Chr	Start	End	Ref	Alt	Func.refGene	Gene.refGene	GeneDetail.refGene	ExonicFunc.refGene	AAChange.refGene	Xref.refGene	NC_fgh	WT_fgh	HZ_fgh	HH_fgh	Other_fgh	FGH_1522	FGH_MAF	dbscSNV_ADA_SCORE	dbscSNV_RF_SCORE	Maybe_Pathogenic	CLNALLELEID	CLNDN	CLNDISDB	CLNREVSTAT	CLNSIG	ONCDN	ONCDISDB	ONCREVSTAT	ONC	SCIDN	SCIDISDB	SCIREVSTAT	SCI	REVEL	MCAP	esp6500siv2_all	1000g2015aug_all	ExAC_ALL	ExAC_AFR	ExAC_AMR	ExAC_EAS	ExAC_FIN	ExAC_NFE	ExAC_OTH	ExAC_SAS	Kaviar_AF	Kaviar_AC	Kaviar_AN	avsnp151	gnomad41_exome_AF	gnomad41_exome_AF_raw	gnomad41_exome_AF_XX	gnomad41_exome_AF_XY	gnomad41_exome_AF_grpmax	gnomad41_exome_faf95	gnomad41_exome_faf99	gnomad41_exome_fafmax_faf95_max	gnomad41_exome_fafmax_faf99_max	gnomad41_exome_AF_afr	gnomad41_exome_AF_amr	gnomad41_exome_AF_asj	gnomad41_exome_AF_eas	gnomad41_exome_AF_fin	gnomad41_exome_AF_mid	gnomad41_exome_AF_nfe	gnomad41_exome_AF_remaining	gnomad41_exome_AF_sas	gnomad41_genome_AF	gnomad41_genome_AF_raw	gnomad41_genome_AF_XX	gnomad41_genome_AF_XY	gnomad41_genome_AF_grpmax	gnomad41_genome_faf95	gnomad41_genome_faf99	gnomad41_genome_fafmax_faf95_max	gnomad41_genome_fafmax_faf99_max	gnomad41_genome_AF_afr	gnomad41_genome_AF_ami	gnomad41_genome_AF_amr	gnomad41_genome_AF_asj	gnomad41_genome_AF_eas	gnomad41_genome_AF_fin	gnomad41_genome_AF_mid	gnomad41_genome_AF_nfe	gnomad41_genome_AF_remaining	gnomad41_genome_AF_sas	SIFT_score	SIFT_converted_rankscore	SIFT_pred	SIFT4G_score	SIFT4G_converted_rankscore	SIFT4G_pred	Polyphen2_HDIV_score	Polyphen2_HDIV_rankscore	Polyphen2_HDIV_pred	Polyphen2_HVAR_score	Polyphen2_HVAR_rankscore	Polyphen2_HVAR_pred	LRT_score	LRT_converted_rankscore	LRT_pred	LRT_Omega	MutationTaster_score	MutationTaster_converted_rankscore	MutationTaster_pred	MutationAssessor_score	MutationAssessor_rankscore	MutationAssessor_pred	FATHMM_score	FATHMM_converted_rankscore	FATHMM_pred	PROVEAN_score	PROVEAN_converted_rankscore	PROVEAN_pred	VEST4_score	VEST4_rankscore	MetaSVM_score	MetaSVM_rankscore	MetaSVM_pred	MetaLR_score	MetaLR_rankscore	MetaLR_pred	Reliability_index	MetaRNN_score	MetaRNN_rankscore	MetaRNN_pred	M-CAP_score	M-CAP_rankscore	M-CAP_pred	REVEL_score	REVEL_rankscore	MutPred_score	MutPred_rankscore	MVP_score	MVP_rankscore	gMVP_score	gMVP_rankscore	MPC_score	MPC_rankscore	PrimateAI_score	PrimateAI_rankscore	PrimateAI_pred	DEOGEN2_score	DEOGEN2_rankscore	DEOGEN2_pred	BayesDel_addAF_score	BayesDel_addAF_rankscore	BayesDel_addAF_pred	BayesDel_noAF_score	BayesDel_noAF_rankscore	BayesDel_noAF_pred	ClinPred_score	ClinPred_rankscore	ClinPred_pred	LIST-S2_score	LIST-S2_rankscore	LIST-S2_pred	VARITY_R_score	VARITY_R_rankscore	VARITY_ER_score	VARITY_ER_rankscore	VARITY_R_LOO_score	VARITY_R_LOO_rankscore	VARITY_ER_LOO_score	VARITY_ER_LOO_rankscore	ESM1b_score	ESM1b_rankscore	ESM1b_pred	EVE_score	EVE_rankscore	AlphaMissense_score	AlphaMissense_rankscore	AlphaMissense_pred	Aloft_pred	Aloft_Confidence	CADD_raw	CADD_raw_rankscore	CADD_phred	DANN_score	DANN_rankscore	fathmm-MKL_coding_score	fathmm-MKL_coding_rankscore	fathmm-MKL_coding_pred	fathmm-MKL_coding_group	fathmm-XF_coding_score	fathmm-XF_coding_rankscore	fathmm-XF_coding_pred	Eigen-raw_coding	Eigen-raw_coding_rankscore	Eigen-phred_coding	Eigen-PC-raw_coding	Eigen-PC-raw_coding_rankscore	Eigen-PC-phred_coding	GenoCanyon_score	GenoCanyon_rankscore	integrated_fitCons_score	integrated_fitCons_rankscore	integrated_confidence_value	GM12878_fitCons_score	GM12878_fitCons_rankscore	GM12878_confidence_value	H1-hESC_fitCons_score	H1-hESC_fitCons_rankscore	H1-hESC_confidence_value	HUVEC_fitCons_score	HUVEC_fitCons_rankscore	HUVEC_confidence_value	LINSIGHT	LINSIGHT_rankscore	GERP++_NR	GERP++_RS	GERP++_RS_rankscore	phyloP100way_vertebrate	phyloP100way_vertebrate_rankscore	phyloP470way_mammalian	phyloP470way_mammalian_rankscore	phyloP17way_primate	phyloP17way_primate_rankscore	phastCons100way_vertebrate	phastCons100way_vertebrate_rankscore	phastCons470way_mammalian	phastCons470way_mammalian_rankscore	phastCons17way_primate	phastCons17way_primate_rankscore	SiPhy_29way_pi	SiPhy_29way_logOdds	SiPhy_29way_logOdds_rankscore	bStatistic	bStatistic_converted_rankscore	Interpro_domain	GTEx_V8_eQTL_gene	GTEx_V8_eQTL_tissue	GTEx_V8_sQTL_gene	GTEx_V8_sQTL_tissue	eQTLGen_snp_id	InterVar_automated	PVS1	PS1	PS2	PS3	PS4	PM1	PM2	PM3	PM4	PM5	PM6	PP1	PP2	PP3	PP4	PP5	BA1	BS1	BS2	BS3	BS4	BP1	BP2	BP3	BP4	BP5	BP6	BP7	GME_AF	GME_NWA	GME_NEA	GME_AP	GME_Israel	GME_SD	GME_TP	GME_CA	Otherinfo1	Otherinfo2	Otherinfo3	Otherinfo4	Otherinfo5	Otherinfo6	Otherinfo7	Otherinfo8	Otherinfo9	Otherinfo10	Otherinfo11	Otherinfo12	NSWES351	WT	HH	HZ	NC
chr1	930248	930248	G	A	exonic	SAMD11	.	nonsynonymous SNV	SAMD11:NM_001385640:exon3:c.G703A:p.G235S,SAMD11:NM_001385641:exon3:c.G703A:p.G235S,SAMD11:NM_152486:exon3:c.G166A:p.G56S	.	405	1091	25	1	0	27	0.0122227	.	.	.	707587	not_provided|SAMD11-related_disorder	MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.086	.	0.0035	0.00279553	0.0062	0.0014	0.0056	0	0.0065	0.0089	0.0106	0.0033	0.0031242	483	154602	rs41285790	0.0046	0.0046	0.0046	0.0046	0.0153	0.0045	0.0044	0.0127	0.0118	0.0008	0.0029	0.0020	0	0.0024	0.0153	0.0052	0.0045	0.0023	0.0036	0.0036	0.0038	0.0033	0.0054	0.0033	0.0032	0.0050	0.0048	0.0009	0	0.0050	0.0017	0.0002	0.0023	0.0272	0.0054	0.0047	0.0025	0.0	0.91255	D	0.124	0.52060	T	0.051	0.22415	B	0.014	0.16862	B	0.002037	0.37411	N	0.000000	0.989169	0.24328	N	2.015	0.55033	M	.	.	.	-3.66	0.70067	D	0.261	0.49602	-1.0342	0.19109	T	0.042	0.18035	T	9	0.008108735	0.00184	T	.	.	.	0.086	0.25016	.	.	0.181679512989	0.17746	0.10996691564054328	0.10925	0.00828984788232	0.00747	0.54737830162	0.45488	T	0.026762	0.23282	T	-0.428358	0.01517	T	-0.384358	0.35212	T	0.034906782148642	0.02792	T	0.905509	0.67324	D	0.24164094	0.47082	0.2990164	0.55935	0.24164094	0.47082	0.2990164	0.55935	-1.689	0.02200	T	.	.	0.093	0.41738	B	.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.	2.365661	0.30352	18.41	0.98576011050970014	0.43180	0.88396	0.48305	D	AEFBI	0.307974	0.41469	N	-0.463727063074097	0.23277	1.248835	-0.364106624471428	0.26076	1.438027	0.143156849761485	0.17310	0.59774	0.34471	0	0.59043	0.45803	0	0.596491	0.31596	0	0.562822	0.20929	0	.	.	4.13	2.22	0.27116	2.486000	0.44917	.	.	0.652000	0.53365	1.000000	0.71638	1.000000	0.68203	0.108000	0.18652	0.1931:0.0:0.8069:0.0	8.724	0.33621	940	0.13648	.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.017821	0.015957	0.020436	0.023669	0.050000	0.008621	0.015528	0.011450	0.08333	1428.83	33	chr1	930248	.	G	A	1428.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.046;DP=279;ExcessHet=0;FS=1.614;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.01;ReadPosRankSum=1.22;SOR=0.764	GT:AD:DP:GQ:PL	0/1:44,58:102:99:1439,0,1148	5	0	1	0
chr1	939398	939398	-	CCTCCCCAGCCACGGTGAGGACCCACCCTGGCATGATCCCCCTCATCA	exonic	SAMD11	.	nonframeshift insertion	SAMD11:NM_001385640:exon7:c.1184_1185insCCTCCCCAGCCACGGTGAGGACCCACCCTGGCATGATCCCCCTCATCA:p.H399_D400insGEDPPWHDPPHHLPSH,SAMD11:NM_001385641:exon7:c.1181_1182insCCTCCCCAGCCACGGTGAGGACCCACCCTGGCATGATCCCCCTCATCA:p.H398_D399insGEDPPWHDPPHHLPSH,SAMD11:NM_152486:exon7:c.644_645insCCTCCCCAGCCACGGTGAGGACCCACCCTGGCATGATCCCCCTCATCA:p.H235_D236insGEDPPWHDPPHHLPSH	.	.	.	.	.	.	.	.	.	.	.	1153717	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0015	0.0015	0.0014	0.0015	0.0116	0.0014	0.0014	0.0106	0.0102	0.0116	0.0012	0.0042	0.0018	0.0036	0.0023	0.0011	0.0027	0.0004	0.0026	0.0079	0.0025	0.0026	0.0089	0.0023	0.0023	0.0080	0.0076	0.0089	0.0055	0.0010	0.0006	0.0006	0.0006	0.0071	0.0008	0.0031	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	1584.73	34	chr1	939398	.	G	GCCTCCCCAGCCACGGTGAGGACCCACCCTGGCATGATCCCCCTCATCA	1584.73	.	AC=2;AF=0.2;AN=10;BaseQRankSum=0.326;DP=614;ExcessHet=0.4139;FS=6.587;MLEAC=2;MLEAF=0.2;MQ=59.77;MQRankSum=-1.077;QD=16.68;ReadPosRankSum=-1.173;SOR=0.308	GT:AD:DP:GQ:PL	0/1:26,26:52:99:902,0,992	3	0	2	1
chr1	941225	941225	C	T	exonic	SAMD11	.	nonsynonymous SNV	SAMD11:NM_001385640:exon8:c.C1280T:p.T427M,SAMD11:NM_001385641:exon8:c.C1277T:p.T426M,SAMD11:NM_152486:exon8:c.C788T:p.T263M	.	428	1093	1	0	0	1	0.000457247	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.034	0.129232395047	.	.	1.687e-05	0	0	0	0	0	0	9.073e-05	6.5e-06	1	154602	rs771437009	3.45e-06	6.841e-06	4.114e-06	2.778e-06	7.664e-05	1.01e-06	7.4e-07	2.032e-05	1.063e-05	0	0	0	7.664e-05	0	0	9.036e-07	0	1.184e-05	6.568e-06	6.561e-06	0	1.344e-05	0.0002	0	0	.	.	0	0	0	0	0.0002	0	0	0	0	0	0.21	0.19639	T	0.021	0.61642	D	0.606	0.39465	P	0.201	0.36881	B	0.110248	0.19450	N	0.522894	0.999858	0.20048	N	1.04	0.26193	L	.	.	.	-1.93	0.44852	N	0.262	0.37923	-1.0744	0.08472	T	0.064	0.26562	T	9	0.17081559	0.31766	T	0.129232	0.81126	D	0.137	0.36984	0.145	0.04843	0.36076525451	0.35686	0.23963901106015126	0.23877	0.0254876186551	0.02602	0.776508450508	0.78402	T	0.010266	0.24264	T	-0.0749876	0.40528	T	-0.345491	0.39720	T	0.261455953121185	0.23378	T	0.883312	0.60567	D	0.054973535	0.10621	0.091657765	0.21561	0.054973535	0.10621	0.091657765	0.21561	-4.338	0.28706	T	.	.	0.142	0.45099	B	.;.;.;.	.;.;.;.	3.485187	0.48688	22.7	0.99396363145870226	0.62565	0.39973	0.26333	N	AEFDGBCI	0.214345	0.33982	N	-0.334371951219307	0.27851	1.531364	-0.367229716858319	0.25982	1.432187	0.999999994728456	0.74766	0.59774	0.34471	0	0.596491	0.49125	0	0.608004	0.38603	0	0.63947	0.58350	0	.	.	4.22	3.3	0.36912	1.467000	0.34930	.	.	0.454000	0.21428	0.739000	0.29016	0.159000	0.23246	0.037000	0.13953	0.0:0.7977:0.0:0.2023	7.598	0.27226	940	0.13648	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1667	1109.06	40	chr1	941225	.	C	T	1109.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=1.45;DP=229;ExcessHet=0.4139;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=13.69;ReadPosRankSum=0.751;SOR=0.716	GT:AD:DP:GQ:PL	0/1:16,26:42:99:638,0,295	4	0	2	0
chr1	1286109	1286110	AA	-	exonic	SCNN1D	.	frameshift deletion	SCNN1D:NM_001130413:exon7:c.742_743del:p.K248Dfs*24	.	18	1492	11	1	0	13	0.00433767	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0006	0.00219649	0.0020	0	0.0007	0	0	0.0007	0.0054	0.0098	0.0001153	3	26028	rs555847974	0.0006	0.0006	0.0004	0.0008	0.0060	0.0006	0.0006	0.0056	0.0054	5.977e-05	0.0003	0.0006	0	0.0001	0.0024	0.0003	0.0010	0.0060	0.0005	0.0005	0.0004	0.0006	0.0052	0.0004	0.0004	0.0036	0.0031	7.216e-05	0	0.0010	0.0003	0	0.0003	0	0.0004	0.0014	0.0052	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002020	0.000000	0.002725	0.000000	0.000000	0.000000	0.000000	0.003788	0.08333	2940.79	36	chr1	1286108	.	CAA	C	2940.79	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.181;DP=327;ExcessHet=0;FS=2.051;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=19.74;ReadPosRankSum=-0.744;SOR=0.523	GT:AD:DP:GQ:PL	0/1:73,76:149:99:2951,0,2836	5	0	1	0
chr1	1332964	1332964	T	A	exonic	TAS1R3	.	nonsynonymous SNV	TAS1R3:NM_152228:exon4:c.T1319A:p.L440Q	.	418	1090	13	1	0	15	0.00683371	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.382	.	0.0005	0.00219649	0.0018	0	0.0004	0	0	0.0005	0.0059	0.0102	0.0014683	227	154602	rs142484921	0.0008	0.0008	0.0005	0.0010	0.0086	0.0007	0.0007	0.0081	0.0079	5.977e-05	0.0002	0.0006	0	0.0001	0.0023	0.0003	0.0010	0.0086	0.0005	0.0005	0.0003	0.0008	0.0079	0.0004	0.0004	0.0059	0.0052	7.215e-05	0	0.0007	0.0003	0	0.0003	0	0.0004	0.0014	0.0079	0.543	0.06735	T	0.426	0.13872	T	0.008	0.14655	B	0.018	0.18489	B	0.649774	0.10524	N	0.842053	1	0.08975	N	0.93	0.23535	L	-2.01	0.85468	D	0.27	0.04306	N	0.301	0.34012	-0.8457	0.52263	T	0.316	0.68558	T	10	0.0041508377	0.00082	T	.	.	.	0.382	0.69946	.	.	0.173771789658	0.16945	0.2936477550611099	0.29277	.	.	0.326515614986	0.14407	T	0.045863	0.27251	T	-0.321166	0.06803	T	-0.226433	0.52115	T	0.0116710130665213	0.00178	T	0.589541	0.21661	T	0.06947239	0.15223	0.06586882	0.13410	0.06947239	0.15223	0.06586882	0.13410	-2.55	0.06132	T	.	.	0.089	0.12132	B	.	.	0.117180	0.05153	1.675	0.58548748073998602	0.06018	0.07140	0.13165	N	AEFDBHCI	0.039746	0.05816	N	-1.03287501319859	0.07928	0.3699718	-1.03306780746201	0.09063	0.4488601	0.999999679210477	0.74766	0.679555	0.55442	0	0.550933	0.16991	0	0.600882	0.32295	2	0.664235	0.64389	0	.	.	4.8	2.36	0.28258	0.540000	0.22900	0.297000	0.16936	-0.230000	0.07744	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.3665:0.0834:0.141:0.4091	1.550	0.02418	774	0.48577	Receptor, ligand binding region	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002016	0.000000	0.002725	0.000000	0.000000	0.000000	0.000000	0.003788	0.08333	2274.83	67	chr1	1332964	.	T	A	2274.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.04;DP=535;ExcessHet=0;FS=1.841;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.71;ReadPosRankSum=-0.362;SOR=0.551	GT:AD:DP:GQ:PL	0/1:89,90:179:99:2285,0,2293	5	0	1	0
chr1	9720138	9720138	A	G	exonic	PIK3CD	.	nonsynonymous SNV	PIK3CD:NM_001350235:exon10:c.A1279G:p.T427A,PIK3CD:NM_001350234:exon11:c.A1366G:p.T456A,PIK3CD:NM_005026:exon11:c.A1366G:p.T456A	Immunodeficiency 14, Autosomal dominant	413	1101	6	2	0	10	0.0045208	.	.	.	448268	not_provided|Immunodeficiency_14|not_specified|PIK3CD-related_disorder	MedGen:C3661900|MONDO:MONDO:0014222,MedGen:C3714976,OMIM:615513,Orphanet:397596|MedGen:CN169374|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.128	.	7.7e-05	0.00778754	0.0071	0.0002	0.0147	0.0415	0.0206	0.0017	0.0112	0.0041	0.0061642	953	154602	rs28730674	0.0031	0.0032	0.0031	0.0032	0.0477	0.0031	0.0030	0.0459	0.0452	0.0002	0.0118	0.0012	0.0477	0.0210	0.0010	0.0004	0.0037	0.0038	0.0039	0.0039	0.0030	0.0048	0.0424	0.0037	0.0036	0.0378	0.0360	4.813e-05	0	0.0039	0.0023	0.0424	0.0222	0.0034	0.0007	0.0009	0.0046	0.257	0.17821	T	0.08	0.41913	T	0.0	0.02946	B	0.001	0.04355	B	0.003652	0.34662	N	0.356599	0.999583	0.20930	N	-0.55	0.02420	N	-1.01	0.76168	T	-0.5	0.15782	N	0.262	0.29659	-1.0275	0.21266	T	0.054	0.22693	T	10	0.007569164	0.00172	T	.	.	.	0.128	0.35103	.	.	0.672937485663	0.67017	0.6524903277073791	0.65185	0.916383258125	0.71252	0.250218421221	0.03790	T	0.004055	0.49814	T	-0.495001	0.00610	T	-0.440554	0.28745	T	0.00846418338586233	0.00103	T	0.453455	0.12891	T	0.0540683	0.10323	0.03286777	0.02089	0.07687313	0.17412	0.029144252	0.01220	-3.881	0.22018	T	0.1749568650262596	0.22246	0.057	0.02458	B	.;.;.;.;.	.;.;.;.;.	0.133547	0.05285	1.783	0.68167734259125845	0.08576	0.73221	0.35819	D	AEFBCI	0.197800	0.32470	N	-0.800355971764361	0.13301	0.6542867	-0.745771673343951	0.15826	0.8342714	0.999657426556877	0.41424	0.706298	0.61202	0	0.702456	0.74545	0	0.709663	0.75317	0	0.592323	0.36904	0	.	.	5.54	-0.546	0.11248	1.021000	0.29642	1.565000	0.27381	-0.054000	0.16847	0.919000	0.31930	0.001000	0.17328	0.177000	0.21203	0.5476:0.0:0.1832:0.2692	3.713	0.07955	835	0.38313	Phosphatidylinositol 3-kinase, C2 domain;Phosphatidylinositol 3-kinase, C2 domain;Phosphatidylinositol 3-kinase, C2 domain;Phosphatidylinositol 3-kinase, C2 domain;Phosphatidylinositol 3-kinase, C2 domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.002016	0.000000	0.001362	0.000000	0.000000	0.000000	0.006098	0.003817	0.1667	3309.04	43	chr1	9720138	.	A	G	3309.04	.	AC=2;AF=0.167;AN=12;DP=291;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;QD=30.93;SOR=1.211	GT:AD:DP:GQ:PL	1/1:0,107:107:99:3329,321,0	5	1	0	0
chr1	9773277	9773277	A	T	exonic	CLSTN1	.	nonsynonymous SNV	CLSTN1:NM_001009566:exon2:c.T209A:p.F70Y,CLSTN1:NM_001302883:exon2:c.T209A:p.F70Y,CLSTN1:NM_014944:exon2:c.T209A:p.F70Y	.	432	1083	6	1	0	8	0.00367985	.	.	.	707613	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.130	.	0.0002	0.00778754	0.0075	0.0002	0.0149	0.0424	0.0223	0.0023	0.0155	0.0028	0.0064423	996	154602	rs1129358	0.0033	0.0033	0.0033	0.0033	0.0482	0.0032	0.0032	0.0464	0.0457	0.0002	0.0119	0.0002	0.0482	0.0234	0.0010	0.0005	0.0042	0.0033	0.0042	0.0042	0.0032	0.0052	0.0428	0.0039	0.0038	0.0382	0.0364	4.811e-05	0	0.0038	0.0003	0.0428	0.0251	0.0034	0.0009	0.0009	0.0050	1.0	0.00964	T	1.0	0.01155	T	0.001	0.07471	B	0.003	0.12133	B	0.000003	0.62929	D	0.106619	1	0.81001	D	-1.32	0.00691	N	0.18	0.60361	T	0.72	0.02195	N	0.419	0.49146	-0.9747	0.36191	T	0.010	0.03719	T	10	0.0062605143	0.00141	T	.	.	.	0.130	0.35528	.	.	0.351146185902	0.34720	0.4699316485721241	0.46912	0.311417268243	0.33444	0.659449219704	0.61331	T	0.019658	0.15622	T	-0.482567	0.00715	T	-0.42116	0.30942	T	0.0195774938082214	0.00660	T	0.741926	0.36121	T	0.0550333	0.10641	0.040724423	0.04466	0.0550333	0.10641	0.040724423	0.04466	-5.469	0.41578	T	.	.	0.140	0.30660	B	.;.	.;.	1.765504	0.22456	15.63	0.4078652552326828	0.02901	0.83427	0.42545	D	AEFBI	0.136611	0.25734	N	-0.747156413870075	0.14711	0.7351077	-0.478326074215113	0.22752	1.237327	0.988180822299889	0.31438	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.59	4.4	0.52402	3.520000	0.53221	8.931000	0.78410	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.138000	0.19872	0.7597:0.0:0.0:0.2402	10.030	0.41267	635	0.64580	Cadherin-like;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.002024	0.000000	0.001359	0.000000	0.000000	0.000000	0.009317	0.003817	0.1667	995.04	33	chr1	9773277	.	A	T	995.04	.	AC=2;AF=0.167;AN=12;DP=206;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;QD=28.43;SOR=0.869	GT:AD:DP:GQ:PL	1/1:0,35:35:99:1015,105,0	5	1	0	0
chr1	10326244	10326244	G	C	exonic	KIF1B	.	nonsynonymous SNV	KIF1B:NM_015074:exon25:c.G2671C:p.E891Q,KIF1B:NM_001365951:exon27:c.G2809C:p.E937Q,KIF1B:NM_001365952:exon27:c.G2809C:p.E937Q	Pheochromocytoma, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.290	0.0482880192528	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	6.841e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.067	0.37326	T	0.212	0.26549	T	0.989	0.62824	D	0.969	0.72001	D	0.000000	0.84330	D	0.000000	1	0.81001	D	1.765	0.45800	L	-0.82	0.75001	T	-1.39	0.36787	N	0.734	0.75009	-0.1696	0.78438	T	0.498	0.81014	T	10	0.6018709	0.66958	D	0.048288	0.63305	D	0.290	0.60924	0.219	0.14078	0.749556767029	0.74729	0.6982153262634863	0.69762	1.23630627734	0.81476	0.814065039158	0.84115	D	0.345935	0.71426	T	0.119299	0.66301	D	-0.0664114	0.65882	T	0.84802782535553	0.49996	D	0.984102	0.94582	D	0.2858203	0.51601	0.27822828	0.53781	0.2858203	0.51601	0.27822828	0.53780	-10.724	0.78968	D	.	.	0.374	0.62311	A	.;.;.;.;.	.;.;.;.;.	5.279577	0.88650	29.7	0.99699751426161221	0.80522	0.99370	0.95141	D	AEFGBI	0.891753	0.82802	D	0.588017507858634	0.72425	5.803883	0.669916851634812	0.80102	7.224664	0.999999999999494	0.74766	0.562547	0.31514	0	0.546412	0.12157	0	0.608884	0.39905	0	0.491896	0.07777	0	.	.	5.6	5.6	0.84997	9.602000	0.97623	11.794000	0.96459	0.674000	0.70861	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:1.0:0.0	19.620	0.95646	229	0.91079	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.25	1750.23	207	chr1	10326244	.	G	C	1750.23	.	AC=3;AF=0.25;AN=12;BaseQRankSum=-5.566;DP=810;ExcessHet=3.1439;FS=242.254;MLEAC=3;MLEAF=0.25;MQ=60;MQRankSum=0;QD=2.75;ReadPosRankSum=1.34;SOR=10.087	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:108,40:148:99:0|1:10326244_G_C:499,0,3868:10326244	3	0	3	0
chr1	11027215	11027215	T	G	exonic	MASP2	.	nonsynonymous SNV	MASP2:NM_006610:exon11:c.A1731C:p.Q577H	MASP2 deficiency, Autosomal recessive	0	1521	1	0	0	1	0.000328623	.	.	.	276141	not_provided|Immunodeficiency_due_to_MASP-2_deficiency	MedGen:C3661900|MONDO:MONDO:0013423,MedGen:C3151085,OMIM:613791,Orphanet:331187	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.187	.	0.0002	0.0071885	0.0041	0.0007	0.0068	0.0438	0	2.998e-05	0.0077	0.0012	0.0035899	555	154602	rs144471433	0.0017	0.0017	0.0018	0.0017	0.0514	0.0017	0.0016	0.0496	0.0488	0.0004	0.0048	0	0.0514	0	0.0003	4.317e-05	0.0017	0.0012	0.0018	0.0018	0.0015	0.0020	0.0389	0.0016	0.0015	0.0345	0.0328	0.0006	0	0.0012	0	0.0389	0	0	0.0001	0.0028	0.0015	0.1	0.30515	T	0.068	0.44106	T	0.016	0.17332	B	0.038	0.23361	B	0.003088	0.35449	N	0.269013	0.999883	0.19853	N	0.355	0.11969	N	-2.4	0.88455	D	-0.45	0.14782	N	0.162	0.17002	-0.7311	0.58908	T	0.136	0.45087	T	10	0.00299263	0.00049	T	.	.	.	0.187	0.46274	0.447	0.50629	0.837985424677	0.83644	0.49211991111733683	0.49132	0.0381200310596	0.04051	0.286368876696	0.08395	T	0.155896	0.49784	T	-0.364198	0.03898	T	-0.248026	0.50012	T	0.00401165311852288	0.00043	T	0.60264	0.22576	T	0.29097435	0.52083	0.11917779	0.28766	0.29097435	0.52083	0.11917779	0.28765	-6.29	0.48642	T	0.3092479349957325	0.40706	0.212	0.43975	B	.	.	1.195029	0.15865	12.16	0.99308448925002069	0.58906	0.51162	0.28832	D	AEFBHCI	0.073905	0.14797	N	-0.56009593087014	0.20168	1.06123	-0.470159980366795	0.22981	1.250917	0.999163343520851	0.38622	0.631515	0.41029	0	0.697927	0.68747	0	0.696353	0.63694	0	0.636168	0.56350	0	.	.	5.05	0.139	0.14095	0.049000	0.13983	-2.679000	0.03475	0.665000	0.62972	0.606000	0.27796	0.000000	0.08366	0.955000	0.50612	0.0:0.591:0.0:0.409	10.871	0.46092	840	0.37365	Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.08333	2295.83	34	chr1	11027215	.	T	G	2295.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.8;DP=343;ExcessHet=0;FS=6.605;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.58;ReadPosRankSum=-0.973;SOR=0.68	GT:AD:DP:GQ:PL	0/1:80,89:169:99:2306,0,1897	5	0	1	0
chr1	11834535	11834535	G	A	exonic	CLCN6	.	nonsynonymous SNV	CLCN6:NM_001256959:exon16:c.G1672A:p.V558M,CLCN6:NM_001286:exon17:c.G1738A:p.V580M	.	432	1078	12	0	0	12	0.00553506	.	.	.	696022	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.408	0.12413760199	0.0019	0.00159744	0.0027	0.0002	0.0005	0	0.0011	0.0035	0.0022	0.0044	0.0025355	392	154602	rs150830522	0.0024	0.0024	0.0022	0.0025	0.0062	0.0023	0.0023	0.0046	0.0041	0.0003	0.0007	0.0032	0	0.0015	0.0062	0.0024	0.0021	0.0046	0.0021	0.0021	0.0022	0.0020	0.0036	0.0019	0.0018	0.0032	0.0031	0.0004	0	0.0007	0.0037	0.0004	0.0013	0.0068	0.0036	0.0019	0.0025	0.001	0.78490	D	0.002	0.79402	D	0.293	0.32367	B	0.029	0.21540	B	0.000031	0.55875	D	0.123949	0.986941	0.81001	D	0.69	0.16971	N	-3.17	0.93054	D	-1.74	0.42191	N	0.668	0.67650	-0.0073	0.82105	T	0.484	0.80340	T	10	0.014210612	0.00299	T	0.124138	0.80543	D	0.408	0.72022	.	.	0.852511191194	0.85109	0.5966351083214423	0.59593	0.744080946356	0.63420	0.686736822128	0.65237	T	0.36824	0.73317	T	-0.179703	0.23780	T	-0.0305037	0.68336	D	0.0624264771606103	0.07545	T	0.977202	0.94447	D	0.121195085	0.28504	0.19802806	0.43615	0.121195085	0.28503	0.19802806	0.43614	-7.871	0.63585	D	.	.	0.454	0.62406	A	.;.;.	.;.;.	3.817845	0.55106	23.6	0.99604815872946917	0.74456	0.95102	0.63445	D	AEFDBI	0.357379	0.44843	N	-0.0901217765202134	0.37824	2.20625	0.0387388537483152	0.41531	2.496658	0.999888893331987	0.44867	0.706548	0.73137	0	0.577304	0.33150	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	5.45	4.52	0.54797	4.881000	0.62806	6.568000	0.55959	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.872000	0.41544	0.0818:0.0:0.9182:0.0	12.429	0.54901	662	0.61715	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.004532	0.000000	0.001359	0.011696	0.000000	0.000000	0.003049	0.015152	0.08333	1331.83	40	chr1	11834535	.	G	A	1331.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.428;DP=271;ExcessHet=0;FS=1.925;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.96;ReadPosRankSum=1.03;SOR=0.951	GT:AD:DP:GQ:PL	0/1:39,50:89:99:1342,0,974	5	0	1	0
chr1	15774723	15774723	G	A	exonic	FBLIM1	.	nonsynonymous SNV	FBLIM1:NM_001024216:exon5:c.G526A:p.A176T,FBLIM1:NM_001024215:exon6:c.G817A:p.A273T,FBLIM1:NM_017556:exon7:c.G817A:p.A273T,FBLIM1:NM_001350151:exon8:c.G817A:p.A273T	.	.	.	.	.	.	.	.	.	.	.	3442347	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.176	0.112076679042	.	.	0.0001	9.623e-05	8.639e-05	0	0	0.0002	0	0	1.94e-05	3	154602	rs199815548	0.0001	0.0001	9.257e-05	0.0001	0.0001	8.915e-05	8.399e-05	0.0001	0.0001	5.974e-05	8.944e-05	0	0	0	0	0.0001	6.623e-05	1.159e-05	0.0001	0.0001	0.0002	8.071e-05	0.0002	7.578e-05	6.282e-05	0.0001	9.896e-05	2.412e-05	0	6.552e-05	0	0.0002	0	0	0.0002	0.0005	0	0.56	0.23721	T	0.53	0.44106	T	0.604	0.57599	P	0.207	0.39801	B	0.192233	0.16816	N	0.611535	0.999981	0.18198	N	1.34	0.33385	L	-2.2	0.87352	D	-1.15	0.32791	N	0.224	0.25130	-0.5928	0.65109	T	0.403	0.75388	T	10	0.13462776	0.25620	T	0.112077	0.79009	D	0.176	0.44373	.	.	0.850876626233	0.84944	0.30320613368485094	0.30233	0.297358880734	0.32117	0.361086308956	0.19544	T	0.162235	0.50681	T	-0.301507	0.08518	T	-0.39657	0.33784	T	0.0503077790833321	0.05555	T	0.887511	0.64352	D	0.03068455	0.02774	0.04782239	0.06973	0.03068455	0.02774	0.04782239	0.06972	-8.751	0.68734	D	.	.	0.078	0.12276	B	.;.;.;.	.;.;.;.	1.581973	0.20241	14.66	0.99310930871668357	0.59017	0.16309	0.19329	N	AEFBCI	0.060968	0.11623	N	-0.44847412373405	0.23791	1.280166	-0.460375785595454	0.23255	1.267241	0.00227156832066716	0.09286	0.67177	0.52595	0	0.573888	0.26702	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.1	1.81	0.24139	0.283000	0.18605	4.666000	0.44258	-1.086000	0.01550	0.025000	0.20085	1.000000	0.68203	0.901000	0.43729	0.187:0.0:0.6554:0.1576	6.089	0.19206	725	0.54935	Zinc finger, LIM-type|Zinc finger, LIM-type|Zinc finger, LIM-type;Zinc finger, LIM-type|Zinc finger, LIM-type|Zinc finger, LIM-type;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	566.83	37	chr1	15774723	.	G	A	566.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.7;DP=227;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.57;ReadPosRankSum=0.885;SOR=0.798	GT:AD:DP:GQ:PL	0/1:29,20:49:99:577,0,762	5	0	1	0
chr1	16563946	16563946	C	T	exonic	NBPF1	.	unknown	UNKNOWN	.	400	294	827	1	0	829	0.585039	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1105	.	0.2789	0.2174	0.2967	0.1361	0.3057	0.2989	0.2631	0.2918	0.0008473	131	154602	rs3863779	0.0001	0.0001	0.0003	0	0.0012	0	0	.	.	0	0	0	.	0	0	0	0	0.0012	0	0.0026	0	0	.	0	0	.	.	0	.	0	0	.	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0.336496	0.271084	0.351499	0.376068	0.277778	0.344828	0.297297	0.384000	0.25	3686.12	541	chr1	16563946	.	C	T	3686.12	.	AC=3;AF=0.25;AN=12;BaseQRankSum=-1.933;DP=3724;ExcessHet=1.383;FS=0;MLEAC=3;MLEAF=0.25;MQ=59.54;MQRankSum=-8.143;QD=2.36;ReadPosRankSum=0.349;SOR=0.825	GT:AD:DP:GQ:PL	0/1:420,121:541:99:2219,0,12311	3	0	3	0
chr1	16563989	16563989	G	C	exonic	NBPF1	.	unknown	UNKNOWN	.	391	314	816	1	0	818	0.565698	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3891	0.2879	0.4120	0.2492	0.4146	0.4143	0.3885	0.3951	0.0044437	687	154602	rs12117084	0	0.0002	0	0	.	0	0	.	.	0	0	0	.	0	0	0	0	0	0.0016	0.0027	0.0029	0	0.0030	0	0	.	.	0	.	0	0	.	0	0	0.0030	0	0	.	.	.	0.03	0.54159	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.353	0.39457	.	.	.	.	.	.	.	0.0024681687	0.00037	T	.	.	.	.	.	.	.	.	.	0.02352237282194909	0.02304	.	.	0.575379014015	0.49435	T	.	.	.	-0.455599	0.01046	T	-0.892213	0.00559	T	.	.	.	0.687031	0.29593	T	.	.	.	.	.	.	.	.	-3.451	0.15752	T	.	.	0.172	0.37820	B	.	.	0.069283	0.04780	1.396	0.1972110124842818	0.00678	0.00975	0.03723	N	AEFDBCIJ	0.029075	0.02679	N	.	.	.	.	.	.	7.36511087105358E-4	0.07723	0.383005	0.05895	0	0.332388	0.05802	1	0.457825	0.06646	0	0.467017	0.07116	0	.	.	0.566	0.566	0.16501	-0.694000	0.05217	-10.261000	0.00721	-1.511000	0.01016	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	497	0.76227	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.358989	0.280488	0.387978	0.366379	0.277778	0.379310	0.324138	0.412000	0.25	5064.03	698	chr1	16563989	.	G	C	5064.03	.	AC=3;AF=0.25;AN=12;BaseQRankSum=-0.551;DP=4498;ExcessHet=1.383;FS=0;MLEAC=3;MLEAF=0.25;MQ=59.84;MQRankSum=-4.067;QD=2.43;ReadPosRankSum=-0.537;SOR=0.817	GT:AD:DP:GQ:PL	0/1:581,168:749:99:3096,0,16470	3	0	3	0
chr1	16564107	16564107	T	G	exonic	NBPF1	.	unknown	UNKNOWN	.	383	318	815	6	0	827	0.565277	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4042	0.4090	0.4331	0.2091	0.4092	0.4156	0.4105	0.4299	0.0114492	298	26028	rs2990551	0	0.0008	0	0	.	0	0	.	.	0	0	0	.	0	0	0	0	0	0	0.0042	0	0	.	0	0	.	.	0	.	0	0	.	0	.	0	0	0	.	.	.	0.218	0.26066	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.168	0.17828	.	.	.	.	.	.	.	0.005626291	0.00125	T	.	.	.	.	.	.	.	.	.	0.015489301517433041	0.01504	.	.	0.533775627613	0.43567	T	.	.	.	-0.499041	0.00579	T	-0.954615	0.00248	T	.	.	.	0.465553	0.17787	T	.	.	.	.	.	.	.	.	-2.062	0.03424	T	.	.	0.177	0.38676	B	.;.	.;.	-0.174163	0.03224	0.539	0.25431419136250621	0.01172	0.01395	0.04735	N	AEFDBHCI	0.031569	0.03403	N	.	.	.	.	.	.	7.84172557205885E-4	0.07810	0.383005	0.05895	0	2.97E-4	0.00021	3	0.155693	0.03940	1	0.393	0.06807	0	.	.	0.566	-0.849	0.10181	-0.576000	0.05947	-14.342000	0.00409	-0.599000	0.04621	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	497	0.76227	.;Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.364819	0.306250	0.372283	0.388889	0.187500	0.405172	0.335714	0.360000	0.3333	27548.0	710	chr1	16564107	.	T	G	27548.0	.	AC=4;AF=0.333;AN=12;BaseQRankSum=-0.125;DP=4528;ExcessHet=3.1439;FS=1.2;MLEAC=4;MLEAF=0.333;MQ=55.43;MQRankSum=10.37;QD=9.21;ReadPosRankSum=-0.193;SOR=0.834	GT:AD:DP:GQ:PL	0/1:487,327:814:99:9620,0,15882	2	0	4	0
chr1	16564112	16564112	G	A	exonic	NBPF1	.	unknown	UNKNOWN	.	382	776	360	4	0	368	0.191667	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0308	.	0.2106	0.0561	0.2861	0.0502	0.2065	0.2398	0.2097	0.2357	0.0002305	6	26028	rs200783506	0	0.0002	0	0	.	0	0	.	.	0	0	0	.	0	0	0	0	0	0	0.0008	0	0	.	0	0	.	.	0	.	0	0	.	0	.	0	0	0	.	.	.	0.031	0.54934	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	0.28264	.	.	.	.	.	.	.	0.0030666888	0.00051	T	.	.	.	.	.	.	.	.	.	0.05765086588271105	0.05706	.	.	0.524779081345	0.42300	T	.	.	.	-0.62494	0.00103	T	-0.595706	0.13176	T	.	.	.	0.79772	0.47570	T	.	.	.	.	.	.	.	.	-5.516	0.42017	T	.	.	0.264	0.49845	B	.;.	.;.	0.535560	0.09040	5.825	0.31427375372166372	0.01770	0.01195	0.04267	N	AEFDBHCI	0.026313	0.01952	N	.	.	.	.	.	.	5.56753264327555E-4	0.07304	0.383005	0.05895	0	2.97E-4	0.00021	3	0.155693	0.03940	1	0.393	0.06807	0	.	.	0.566	0.566	0.16501	-1.612000	0.02163	-12.383000	0.00529	-0.617000	0.04568	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	497	0.76227	.;Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.122310	0.050633	0.116848	0.149573	0.000000	0.129310	0.113475	0.169355	0.25	6034.03	550	chr1	16564112	.	G	A	6034.03	.	AC=3;AF=0.25;AN=12;BaseQRankSum=1.6;DP=4304;ExcessHet=1.383;FS=1.499;MLEAC=3;MLEAF=0.25;MQ=54.9;MQRankSum=6.08;QD=2.7;ReadPosRankSum=-0.91;SOR=0.806	GT:AD:DP:GQ:PL	0/1:643,140:783:99:2229,0,23933	3	0	3	0
chr1	16564144	16564144	C	T	exonic	NBPF1	.	unknown	UNKNOWN	.	396	90	1031	5	0	1041	0.85258	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4583	0.3425	0.4588	0.4722	0.4820	0.4666	0.4640	0.4780	0.0474489	1235	26028	rs1043750	0.0010	0.0018	0.0014	0.0006	0.0011	0.0005	0.0004	0.0006	0.0004	0	0	0	.	0.0027	0	0.0011	0.0016	0	0	0.0038	0	0	.	0	0	.	.	.	.	0	.	.	0	.	0	.	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.428814	0.400000	0.425272	0.420168	0.375000	0.439655	0.440559	0.455645	0.5	31748.6	546	chr1	16564144	.	C	T	31748.6	.	AC=6;AF=0.5;AN=12;BaseQRankSum=-3.623;DP=3888;ExcessHet=11.5949;FS=1.946;MLEAC=6;MLEAF=0.5;MQ=54.06;MQRankSum=-16.19;QD=8.4;ReadPosRankSum=0.566;SOR=0.858	GT:AD:DP:GQ:PL	0/1:293,295:588:99:10709,0,11185	0	0	6	0
chr1	16564149	16564149	C	T	exonic	NBPF1	.	unknown	UNKNOWN	.	397	86	1030	9	0	1048	0.859016	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4934	0.4863	0.4979	0.4883	0.4979	0.4937	0.49	0.4947	0.0530967	1382	26028	rs2992339	0.0004	0.0011	0.0002	0.0006	0.0006	0.0001	8.492e-05	0.0002	0.0001	0	0	0	.	0	0	0.0006	0	0	0	0.0048	0	0	.	0	0	.	.	.	.	0	.	.	.	.	0	.	0	.	.	.	0.027	0.57587	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.142	0.14196	.	.	.	.	.	.	.	0.0017973781	0.00024	T	.	.	.	.	.	.	.	.	.	0.0179163774864188	0.01745	.	.	0.506860494614	0.39783	T	.	.	.	-0.443409	0.01235	T	-0.874703	0.00699	T	.	.	.	0.69743	0.33655	T	.	.	.	.	.	.	.	.	-6.206	0.47972	T	.	.	0.161	0.35519	B	.;.	.;.	1.213019	0.16064	12.29	0.62062331923232983	0.06867	0.00721	0.03037	N	AEFBCI	0.018716	0.00589	N	.	.	.	.	.	.	7.30078675238498E-5	0.04552	0.109238	0.02860	1	0.063085	0.00849	2	0.155693	0.03940	1	0.195052	0.04227	1	.	.	0.566	-0.824	0.10266	0.108000	0.15232	-3.220000	0.02960	0.312000	0.19173	0.030000	0.20431	0.000000	0.08366	0.016000	0.10718	.	.	.	497	0.76227	.;Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.483089	0.444444	0.491848	0.487395	0.375000	0.500000	0.478873	0.492000	0.5	33316.6	523	chr1	16564149	.	C	T	33316.6	.	AC=6;AF=0.5;AN=12;BaseQRankSum=-2.191;DP=3774;ExcessHet=11.5949;FS=0;MLEAC=6;MLEAF=0.5;MQ=53.96;MQRankSum=6.79;QD=9;ReadPosRankSum=0.001;SOR=0.685	GT:AD:DP:GQ:PL	0/1:301,286:587:99:10991,0,11575	0	0	6	0
chr1	16579293	16579293	A	G	exonic	NBPF1	.	unknown	UNKNOWN	.	529	584	394	15	0	424	0.266332	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4770	0.4924	0.4777	0.4566	0.4691	0.4789	0.4718	0.4739	0.0008837	23	26028	rs4127114	2.64e-05	4.277e-05	2.622e-05	2.658e-05	0.0002	1.812e-05	1.531e-05	0.0001	7.808e-05	0.0002	0	4.461e-05	0.0002	0	0	1.524e-05	2.313e-05	0	0.0002	0.0007	0.0002	0.0002	0.0007	0.0001	0.0001	0.0002	0.0001	0.0003	0	7.295e-05	0	0.0002	0	0	0.0001	0	0.0007	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.201754	0.190909	0.213499	0.135000	0.071429	0.254386	0.230469	0.197479	0.3333	1202.22	52	chr1	16579293	.	A	G	1202.22	.	AC=4;AF=0.333;AN=12;BaseQRankSum=3.45;DP=312;ExcessHet=3.1439;FS=110.908;MLEAC=4;MLEAF=0.333;MQ=36.11;MQRankSum=1.78;QD=8.29;ReadPosRankSum=-0.469;SOR=7.276	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:27,7:34:99:0|1:16579293_A_G:213,0,1113:16579293	2	0	4	0
chr1	16579294	16579294	T	C	exonic	NBPF1	.	unknown	UNKNOWN	.	528	581	397	16	0	429	0.269642	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4727	0.4891	0.4739	0.4729	0.4642	0.4729	0.4624	0.4674	0.0008837	23	26028	rs4127115	2.497e-05	6.823e-05	2.58e-05	2.42e-05	0.0003	1.689e-05	1.419e-05	0.0001	0.0001	0.0002	0	8.871e-05	0.0003	0	0	8.967e-06	2.286e-05	0	0.0002	0.0010	0.0002	0.0002	0.0004	0.0001	0.0001	0.0001	0.0001	0.0003	0	0.0001	0	0.0004	0.0002	0	0.0001	0	0.0002	.	.	.	0.626	0.11263	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.023	0.00407	.	.	.	.	.	.	.	0.0016256273	0.00019	T	.	.	.	.	.	.	.	.	.	0.015250635719149447	0.01481	.	.	0.530770659447	0.43143	T	.	.	.	-0.622413	0.00106	T	-1.13183	0.00013	T	.	.	.	0.49745	0.15470	T	.	.	.	.	.	.	.	.	-6.053	0.46720	T	.	.	0.064	0.01738	B	.;.	.;.	-0.476506	0.01943	0.166	0.24072861881687246	0.01047	0.00011	0.00159	N	AEFI	0.015935	0.00328	N	.	.	.	.	.	.	6.49849957978273E-4	0.07527	0.163922	0.03765	0	0.096583	0.02683	0	0.083675	0.02720	0	0.24341	0.04801	0	.	.	.	.	.	-0.898000	0.04213	-20.000000	0.00162	-1.466000	0.01076	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	445	0.79730	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.180503	0.190909	0.186464	0.120000	0.071429	0.254386	0.206349	0.176471	0.3333	1200.96	52	chr1	16579294	.	T	C	1200.96	.	AC=4;AF=0.333;AN=12;BaseQRankSum=-4.25;DP=313;ExcessHet=3.1439;FS=110.908;MLEAC=4;MLEAF=0.333;MQ=36.11;MQRankSum=1.78;QD=8.28;ReadPosRankSum=-0.363;SOR=7.276	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:27,7:34:99:0|1:16579293_A_G:213,0,1113:16579293	2	0	4	0
chr1	16579305	16579305	G	A	exonic	NBPF1	.	unknown	UNKNOWN	.	547	597	363	15	0	393	0.247637	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4396	0.4635	0.4334	0.4429	0.4244	0.4403	0.4359	0.4340	0.0011142	29	26028	rs10907245	0.0016	0.0023	0.0015	0.0017	0.0061	0.0015	0.0015	0.0053	0.0050	0.0061	0.0009	0.0028	0.0005	0.0002	0.0027	0.0016	0.0013	0.0019	0.0040	0.0094	0.0041	0.0039	0.0113	0.0037	0.0036	0.0105	0.0101	0.0113	0	0.0013	0.0026	0.0004	9.697e-05	0	0.0016	0.0049	0.0015	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.062183	0.039216	0.051247	0.070000	0.000000	0.098214	0.070866	0.060345	0.3333	515.95	52	chr1	16579305	.	G	A	515.95	.	AC=4;AF=0.333;AN=12;BaseQRankSum=1.93;DP=292;ExcessHet=3.1439;FS=79.332;MLEAC=4;MLEAF=0.333;MQ=35.81;MQRankSum=0.073;QD=3.94;ReadPosRankSum=0.406;SOR=6.183	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:26,6:32:99:.:.:154,0,797:.	2	0	4	0
chr1	16579308	16579308	G	C	exonic	NBPF1	.	unknown	UNKNOWN	.	536	678	298	10	0	318	0.189964	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4169	0.4635	0.4098	0.4442	0.3977	0.4141	0.4226	0.4033	0.0009605	25	26028	rs10796417	2.988e-06	0.0001	2.05e-06	3.875e-06	1.313e-05	8e-07	2.2e-07	.	.	0	0	4.366e-05	0	0	0	1.416e-06	0	1.313e-05	4.685e-05	0.0005	7.844e-05	1.371e-05	7.453e-05	2.144e-05	1.549e-05	2.876e-05	1.88e-05	0	0	6.652e-05	0.0003	0	0	0	7.453e-05	0	0	.	.	.	0.114	0.36765	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.085	0.06190	.	.	.	.	.	.	.	0.0018868446	0.00026	T	.	.	.	.	.	.	.	.	.	0.03536828552245914	0.03483	.	.	0.579951882362	0.50079	T	.	.	.	-0.382433	0.03007	T	-0.787115	0.02245	T	.	.	.	0.920308	0.71149	D	.	.	.	.	.	.	.	.	-9.586	0.71394	D	.	.	0.175	0.38372	B	.;.	.;.	1.521589	0.19533	14.31	0.3543343570932736	0.02223	0.00520	0.02423	N	AEFI	0.030698	0.03141	N	.	.	.	.	.	.	6.38433801032419E-4	0.07505	0.183328	0.03972	0	0.096583	0.02683	0	0.083675	0.02720	0	0.185264	0.04187	1	.	.	.	.	.	0.649000	0.24529	-0.171000	0.11226	0.423000	0.20817	0.003000	0.16062	0.000000	0.08366	0.001000	0.02609	.	.	.	445	0.79730	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.063613	0.029412	0.062500	0.055000	0.000000	0.098214	0.070866	0.068376	0.3333	385.95	52	chr1	16579308	.	G	C	385.95	.	AC=4;AF=0.333;AN=12;BaseQRankSum=1.18;DP=294;ExcessHet=3.1439;FS=66.33;MLEAC=4;MLEAF=0.333;MQ=35.87;MQRankSum=0.073;QD=2.9;ReadPosRankSum=0.078;SOR=5.89	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:30,3:33:27:.:.:27,0,1217:.	2	0	4	0
chr1	16757526	16757526	C	G	exonic	MST1L	.	nonsynonymous SNV	MST1L:NM_001271733:exon14:c.G1900C:p.A634P	.	384	766	370	1	1	373	0.195378	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.404	.	.	.	0.1053	0.0655	0.1365	0.0133	0.1064	0.1147	0.0930	0.1251	0.0830326	12837	154602	rs2446543	6.846e-06	7.593e-05	8.174e-06	5.505e-06	3.482e-05	3.46e-06	2.52e-06	9.25e-06	4.56e-06	2.99e-05	0	0	0	0	0	5.4e-06	0	3.482e-05	2.629e-05	0.0002	3.858e-05	1.344e-05	6.547e-05	8.14e-06	5.14e-06	1.172e-05	6.25e-06	0	0	6.547e-05	0	0	0	0	4.416e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1667	865.06	442	chr1	16757526	.	C	G	865.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-0.467;DP=2553;ExcessHet=0.4139;FS=3.119;MLEAC=2;MLEAF=0.167;MQ=41.01;MQRankSum=0.705;QD=1.1;ReadPosRankSum=1.59;SOR=0.391	GT:AD:DP:GQ:PL	0/1:406,63:469:99:506,0,11473	4	0	2	0
chr1	16759590	16759590	-	C	exonic	MST1L	.	frameshift insertion	MST1L:NM_001271733:exon7:c.811dupG:p.A271Gfs*26	.	687	520	144	171	0	486	0.31848	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0010	0.0027	0.0007	0.0003	0	0.0010	0	0.0007	0.0097587	254	26028	rs200532237	0.0004	0.0070	0.0004	0.0004	0.0030	0.0003	0.0003	0.0023	0.0021	0.0030	0.0007	0.0005	0.0006	9.298e-05	0.0004	0.0002	0.0007	0.0008	0.0020	0.0100	0.0019	0.0021	0.0059	0.0016	0.0015	0.0045	0.0039	0.0059	0.0022	0.0010	0.0037	0.0009	0.0016	0	0.0008	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6667	5012.6	87	chr1	16759590	.	G	GC	5012.6	.	AC=8;AF=0.667;AN=12;BaseQRankSum=4.48;DP=512;ExcessHet=3.1439;FS=24.644;MLEAC=8;MLEAF=0.667;MQ=44.92;MQRankSum=-1.979;QD=10.92;ReadPosRankSum=-3.688;SOR=1.288	GT:AD:DP:GQ:PL	1/1:0,41:41:99:1445,123,0	0	2	4	0
chr1	21978396	21978396	G	A	exonic	CELA3B	.	nonsynonymous SNV	CELA3B:NM_007352:exon2:c.G71A:p.R24H	.	421	1091	10	0	0	10	0.00456204	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.319	0.0371692555097	7.7e-05	.	0.0002	9.612e-05	0	0	0.0008	0.0003	0	6.069e-05	0.000207	32	154602	rs141038744	0.0016	0.0024	0.0015	0.0017	0.0022	0.0016	0.0016	0.0019	0.0018	0.0004	0.0009	0.0011	0.0004	0.0034	0.0016	0.0016	0.0018	0.0022	0.0036	0.0049	0.0037	0.0034	0.0059	0.0033	0.0032	0.0054	0.0052	0.0008	0	0.0016	0.0023	0.0006	0.0044	0	0.0059	0.0033	0.0035	0.358	0.11994	T	0.229	0.25210	T	0.0	0.02946	B	0.0	0.01387	B	0.007306	0.01163	N	2.529540	1	0.08975	N	1.255	0.31814	L	-2.41	0.88533	D	0.6	0.02518	N	0.154	0.15888	-0.6321	0.63481	T	0.420	0.76556	T	10	0.039126813	0.02379	T	0.037169	0.57449	D	0.319	0.64112	.	.	0.0954503805726	0.09146	0.4556730093205391	0.45485	0.205366021206	0.22955	0.253240227699	0.04116	T	0.00303	0.02432	T	-0.0689393	0.41495	T	-0.336803	0.40707	T	0.0574381133510097	0.06760	T	0.0687931	0.00503	T	0.018113418	0.00333	0.022597525	0.00281	0.018113418	0.00333	0.022597525	0.00281	-5.191	0.38850	T	.	.	0.101	0.17615	B	.	.	0.472177	0.08418	5.173	0.87910613318515318	0.17573	0.00578	0.02610	N	AEFBI	0.085482	0.17329	N	-1.81953427079195	0.00499	0.02148352	-1.92661621036719	0.00433	0.01917433	0.994071141636979	0.33476	0.497415	0.19182	0	0.59043	0.45803	0	0.468601	0.07175	0	0.491896	0.07777	0	.	.	5.1	-10.2	0.00305	-0.243000	0.08933	-1.140000	0.06212	-0.942000	0.02081	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1653:0.2878:0.5469:0.0	12.317	0.54285	798	0.45050	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.08333	192.83	34	chr1	21978396	.	G	A	192.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.74;DP=335;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=56.75;MQRankSum=-7.086;QD=1.99;ReadPosRankSum=-2.934;SOR=0.758	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:86,11:97:99:0|1:21978396_G_A:203,0,3551:21978396	5	0	1	0
chr1	21978398	21978398	C	T	exonic	CELA3B	.	nonsynonymous SNV	CELA3B:NM_007352:exon2:c.C73T:p.P25S	.	417	1095	10	0	0	10	0.00454545	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.094	0.0100996723404	.	.	0.0002	0	0	0	0.0008	0.0002	0	6.068e-05	3.84e-05	1	26028	rs769262423	0.0014	0.0022	0.0013	0.0015	0.0021	0.0013	0.0013	0.0019	0.0018	0.0003	0.0009	0.0011	0.0003	0.0033	0.0016	0.0013	0.0017	0.0021	0.0035	0.0048	0.0036	0.0033	0.0057	0.0032	0.0031	0.0052	0.0051	0.0008	0	0.0015	0.0023	0.0006	0.0045	0	0.0057	0.0033	0.0038	0.052	0.39097	T	0.036	0.52060	D	0.001	0.07471	B	0.002	0.06944	B	0.000056	0.53742	D	0.127744	0.991764	0.23986	N	1.565	0.39561	L	2.31	0.16794	T	-5.7	0.87380	D	0.28	0.31702	-1.0466	0.15361	T	0.038	0.16548	T	10	0.08696371	0.14835	T	0.010	0.26235	T	0.094	0.27141	.	.	0.0611884634855	0.05136	0.7483825438036639	0.74784	0.166043844648	0.18736	0.356677532196	0.18901	T	0.028613	0.20688	T	-0.224454	0.17389	T	-0.560189	0.16359	T	0.120394064784545	0.14468	T	0.257074	0.04045	T	0.14659725	0.33551	0.17140582	0.39321	0.14659725	0.33551	0.17140582	0.39320	-5.632	0.43084	T	.	.	0.123	0.25850	B	.	.	1.775219	0.22574	15.68	0.97385492898801918	0.33696	0.28659	0.23614	N	AEFBI	0.252745	0.37236	N	-0.68952758415734	0.16319	0.8303565	-0.69475238898778	0.17090	0.90722	0.365341940087057	0.19817	0.497415	0.19182	0	0.59043	0.45803	0	0.468601	0.07175	0	0.491896	0.07777	0	.	.	5.1	4.17	0.48303	1.431000	0.34534	1.016000	0.23368	0.524000	0.24156	0.007000	0.17678	0.000000	0.08366	0.001000	0.02609	0.0:0.8383:0.1617:0.0	13.200	0.59185	798	0.45050	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	192.83	34	chr1	21978398	.	C	T	192.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.6;DP=335;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=56.75;MQRankSum=-7.086;QD=1.99;ReadPosRankSum=-2.896;SOR=0.758	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:86,11:97:99:0|1:21978396_G_A:203,0,3551:21978396	5	0	1	0
chr1	23798628	23798628	C	T	exonic	GALE	.	nonsynonymous SNV	GALE:NM_001127621:exon3:c.G224A:p.R75H,GALE:NM_000403:exon4:c.G224A:p.R75H,GALE:NM_001008216:exon4:c.G224A:p.R75H	Galactose epimerase deficiency, Autosomal recessive	1	1520	1	0	0	1	0.000328839	.	.	.	2047591	UDPglucose-4-epimerase_deficiency	MONDO:MONDO:0009257,MedGen:C0751161,OMIM:230350,Orphanet:352,Orphanet:79238	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.275	0.046517305952	.	.	7.458e-05	0	0	0.0001	0	4.52e-05	0	0.0003	5.82e-05	9	154602	rs779150200	3.422e-05	3.489e-05	1.362e-05	5.503e-05	0.0004	2.633e-05	2.376e-05	0.0003	0.0003	5.977e-05	0	0	0.0001	3.755e-05	0	6.299e-06	0	0.0004	1.315e-05	1.314e-05	2.57e-05	0	0.0002	2.19e-06	8.2e-07	.	.	0	0	0	0	0	0	0	1.47e-05	0	0.0002	0.083	0.33091	T	0.074	0.43159	T	0.0	0.02946	B	0.001	0.04355	B	0.129281	0.18701	N	0.555420	0.999962	0.18878	N	2.095	0.58118	M	-3.4	0.94260	D	-0.51	0.21215	N	0.145	0.14622	-0.1988	0.77702	T	0.658	0.88114	D	10	0.13247564	0.25215	T	0.046517	0.62494	D	0.275	0.59130	0.508	0.60386	0.756011584421	0.75379	0.28371950022271897	0.28284	0.171411341593	0.19308	0.272012114525	0.06406	T	0.705028	0.91539	D	-0.123491	0.32554	T	-0.104644	0.63036	T	0.0370834791155096	0.03170	T	0.717928	0.45757	T	0.101221815	0.23908	0.0826161	0.18871	0.101221815	0.23908	0.0826161	0.18870	-4.989	0.36720	T	0.12457358213334273	0.12243	0.068	0.03698	B	.;.;.;.;.;.	.;.;.;.;.;.	2.642549	0.34385	19.61	0.98940497784822834	0.48921	0.05991	0.11953	N	AEFBHCI	0.090879	0.18412	N	-0.710816093654013	0.15716	0.794533	-0.733148208325508	0.16138	0.8522473	0.999999932076589	0.74766	0.712529	0.81865	0	0.697927	0.68747	0	0.635938	0.45252	0	0.711	0.71501	0	.	.	3.52	0.037	0.13513	0.606000	0.23891	-0.271000	0.10347	0.526000	0.24426	0.192000	0.24212	0.000000	0.08366	0.923000	0.45890	0.0:0.2917:0.0:0.7083	8.173	0.30425	510	0.75209	NAD(P)-binding domain;NAD(P)-binding domain;NAD-dependent epimerase/dehydratase;NAD-dependent epimerase/dehydratase;NAD(P)-binding domain;NAD(P)-binding domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.000000	0.08333	629.83	35	chr1	23798628	.	C	T	629.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.19;DP=235;ExcessHet=0;FS=1.025;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.68;ReadPosRankSum=0.535;SOR=0.892	GT:AD:DP:GQ:PL	0/1:33,26:59:99:640,0,792	5	0	1	0
chr1	26282357	26282367	CTGGGGCCGGG	0	exonic	UBXN11	.	.	.	.	386	373	210	27	526	790	0.261386	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	333.15	37	chr1	26282357	.	CTGGGGCCGGG	*	333.15	.	AC=6;AF=0.5;AN=12;BaseQRankSum=0.744;DP=163;ExcessHet=6.1542;FS=1.486;MLEAC=6;MLEAF=0.5;MQ=60;MQRankSum=0;QD=2.27;ReadPosRankSum=1.63;SOR=0.854	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:7,14:23:99:1|0:26282320_TCCAGGACAGGGACTGGGGCCGGGACCGGGACCGGGACTGGGGCCGGGACCGGGACCGGGACTGGGGCCGGGACCGGGA_T:547,0,245:26282320	1	1	4	0
chr1	26344655	26344655	G	A	exonic	CRYBG2	.	nonsynonymous SNV	CRYBG2:NM_001039775:exon2:c.C2003T:p.P668L	.	419	1101	2	0	0	2	0.000907441	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1169200627	1.735e-05	1.984e-05	8.564e-06	2.638e-05	0.0004	1.174e-05	9.87e-06	6.165e-05	3.629e-05	0	0	0	0	0	0.0004	9.273e-06	6.912e-05	0.0001	6.572e-06	6.567e-06	0	1.345e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	.	.	.	0.141	0.33442	T	.	.	.	.	.	.	.	.	.	.	0.999999	0.08975	N	.	.	.	.	.	.	.	.	.	0.069	0.04188	.	.	.	.	.	.	.	0.088163584	0.15155	T	.	.	.	.	.	.	.	0.642454921559	0.63950	0.08909451675140305	0.08842	.	.	0.233006820083	0.02198	T	.	.	.	-0.227997	0.16913	T	-0.565278	0.15884	T	.	.	.	0.514149	0.16548	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.095	0.16973	B	.;.;.	.;.;.	0.474435	0.08439	5.197	0.57098761017264343	0.05695	0.02631	0.07223	N	AEFDGBI	.	.	.	.	.	.	.	.	.	0.321509830730173	0.19389	0.162113	0.03585	0	0.059962	0.00310	0	0.175069	0.04249	0	0.062806	0.01542	0	0.0844594	0.19282	4.26	1.23	0.20358	0.064000	0.14310	0.755000	0.21268	-0.678000	0.04252	0.001000	0.13787	0.000000	0.08366	0.026000	0.12556	0.3979:0.0:0.6021:0.0	6.923	0.23577	355	0.85216	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1852.83	139	chr1	26344655	.	G	A	1852.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.404;DP=781;ExcessHet=0;FS=2.032;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.52;ReadPosRankSum=-2.44;SOR=0.598	GT:AD:DP:GQ:PL	0/1:73,75:148:99:1863,0,2018	5	0	1	0
chr1	27412656	27412656	G	A	exonic	WASF2	.	nonsynonymous SNV	WASF2:NM_001201404:exon7:c.C740T:p.P247L,WASF2:NM_006990:exon7:c.C740T:p.P247L	.	426	1082	13	1	0	15	0.00688389	.	.	.	732366	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.046	0.00477985411267	0.0018	0.000798722	0.0024	0.0002	0.0004	0	0.0002	0.0031	0.0066	0.0042	0.0021216	328	154602	rs149705388	0.0014	0.0014	0.0013	0.0015	0.0055	0.0013	0.0013	0.0040	0.0035	0.0001	0.0003	0.0055	2.519e-05	0.0006	0.0055	0.0013	0.0018	0.0033	0.0011	0.0011	0.0011	0.0010	0.0033	0.0009	0.0009	0.0021	0.0017	0.0002	0	0.0004	0.0078	0	0.0008	0.0068	0.0014	0.0009	0.0033	0.204	0.20078	T	0.111	0.41742	T	0.006	0.13644	B	0.002	0.06944	B	0.051012	0.23020	N	0.495011	0.999941	0.58761	D	1.14	0.29013	L	.	.	.	-2.94	0.61435	D	0.351	0.39659	-1.0010	0.29631	T	0.107	0.39051	T	10	0.0081346035	0.00185	T	0.00478	0.11941	T	0.046	0.12618	.	.	0.0675242888579	0.06100	0.79114945530188	0.79066	.	.	0.474490821362	0.35298	T	0.398265	0.75641	T	-0.429642	0.01490	T	-0.391084	0.34425	T	0.0168502223364049	0.00438	T	0.847115	0.57909	T	0.03825706	0.05063	0.06537467	0.13239	0.03825706	0.05063	0.06537467	0.13239	-6.18	0.47761	T	.	.	0.061	0.02488	B	.;.	.;.	3.975189	0.58395	24.0	0.97364026160656747	0.33588	0.74514	0.36453	D	AEFBI	0.202812	0.32938	N	-0.171247790523299	0.34335	1.958566	-0.0407529198331377	0.37894	2.224925	0.997095575458704	0.35269	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.711	0.71501	0	.	.	5.39	3.49	0.39065	2.774000	0.47379	7.527000	0.59855	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.978000	0.57271	0.2254:0.0:0.7746:0.0	9.335	0.37207	541	0.72942	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.004028	0.000000	0.001359	0.002924	0.000000	0.000000	0.009146	0.011364	0.08333	688.83	33	chr1	27412656	.	G	A	688.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.79;DP=231;ExcessHet=0;FS=3.468;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.11;ReadPosRankSum=-2.196;SOR=1.066	GT:AD:DP:GQ:PL	0/1:35,27:62:99:699,0,847	5	0	1	0
chr1	27955748	27955748	G	A	exonic	SMPDL3B	.	nonsynonymous SNV	SMPDL3B:NM_001009568:exon6:c.G755A:p.R252Q,SMPDL3B:NM_001304579:exon6:c.G137A:p.R46Q,SMPDL3B:NM_014474:exon6:c.G755A:p.R252Q	.	423	1094	5	0	0	5	0.00227998	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.426	0.0557122219142	0.0012	0.00179712	0.0024	9.614e-05	0	0.0003	0.0029	0.0024	0.0044	0.0067	0.0021798	337	154602	rs144208397	0.0019	0.0019	0.0017	0.0021	0.0064	0.0018	0.0018	0.0059	0.0057	0.0002	0.0001	0.0126	2.519e-05	0.0036	0.0033	0.0014	0.0020	0.0064	0.0015	0.0015	0.0013	0.0018	0.0064	0.0014	0.0013	0.0047	0.0040	0.0002	0	0.0002	0.0132	0.0008	0.0039	0	0.0014	0.0019	0.0064	0.032	0.44694	D	0.158	0.31629	T	1.0	0.90584	D	0.99	0.78936	D	0.000014	0.62929	D	0.106889	0.720989	0.33617	D	2.605	0.76211	M	-2.42	0.88611	D	-3.0	0.62343	D	0.233	0.31253	0.669	0.92788	D	0.794	0.93004	D	10	0.008205473	0.00186	T	0.055712	0.66336	D	0.426	0.73372	.	.	0.977243864315	0.97699	0.7132078790257588	0.71263	0.336874840187	0.35684	0.217526227236	0.01172	T	0.359239	0.72567	T	-0.309199	0.07818	T	-0.213891	0.53323	T	0.0824133426847049	0.10294	T	0.772623	0.40374	T	0.19201049	0.40852	0.16235138	0.37716	0.19201049	0.40852	0.16235138	0.37715	-6.834	0.53639	T	.	.	0.127	0.26917	B	.;.;.	.;.;.	3.086337	0.41541	21.4	0.99600632141617196	0.74160	0.90098	0.51013	D	AEFDBI	0.457220	0.50875	N	-0.149063258425961	0.35274	2.024037	-0.240162934899754	0.30111	1.692654	0.982420893175803	0.30397	0.634777	0.41761	0	0.588066	0.40923	0	0.643519	0.47002	0	0.542086	0.14980	0	.	.	5.34	3.45	0.38602	4.313000	0.58952	5.092000	0.47362	-0.104000	0.15758	1.000000	0.71638	1.000000	0.68203	0.017000	0.10941	0.1337:0.0:0.8663:0.0	14.689	0.68681	504	0.75712	Calcineurin-like phosphoesterase domain, ApaH type;.;Calcineurin-like phosphoesterase domain, ApaH type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.001359	0.002924	0.000000	0.000000	0.000000	0.000000	0.08333	1368.83	33	chr1	27955748	.	G	A	1368.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.29;DP=276;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.04;ReadPosRankSum=-0.754;SOR=0.771	GT:AD:DP:GQ:PL	0/1:50,55:105:99:1379,0,1073	5	0	1	0
chr1	29275715	29275715	G	T	exonic	PTPRU	.	nonsynonymous SNV	PTPRU:NM_001195001:exon8:c.G1412T:p.R471L,PTPRU:NM_005704:exon8:c.G1412T:p.R471L,PTPRU:NM_133177:exon8:c.G1412T:p.R471L,PTPRU:NM_133178:exon8:c.G1412T:p.R471L	.	433	1052	36	1	0	38	0.0177404	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.192	.	0.0052	0.00638978	0.0095	0.0008	0.0170	0.0013	0.0120	0.0086	0.0067	0.0172	0.0086092	1331	154602	rs35745442	0.0071	0.0071	0.0067	0.0074	0.0244	0.0069	0.0069	0.0212	0.0199	0.0010	0.0165	0.0105	0.0012	0.0125	0.0244	0.0057	0.0092	0.0177	0.0061	0.0061	0.0056	0.0067	0.0176	0.0058	0.0057	0.0146	0.0135	0.0009	0	0.0110	0.0098	0.0015	0.0133	0.0068	0.0065	0.0066	0.0176	0.166	0.24564	T	0.009	0.67890	D	0.912	0.53479	P	0.219	0.44178	B	0.000031	0.55875	D	0.069695	0.999525	0.47407	D	2.275	0.64647	M	0.64	0.52867	T	-4.39	0.77225	D	0.647	0.65844	-0.8413	0.52560	T	0.127	0.43380	T	9	0.009268105	0.00209	T	.	.	.	0.192	0.47115	.	.	0.24933006939	0.24537	0.6364288534790301	0.63576	0.72036751428	0.62177	0.577766299248	0.49771	T	0.327914	0.69838	T	-0.369222	0.03633	T	-0.289512	0.45823	T	0.0330116464804545	0.02473	T	0.987868	0.95886	D	0.38455072	0.59643	0.32482594	0.58403	0.38998896	0.60031	0.32482594	0.58402	-8.927	0.67704	D	.	.	0.231	0.46779	B	.;.;.;.	.;.;.;.	4.957788	0.81954	27.7	0.99732887324895736	0.82904	0.97459	0.74885	D	AEFBI	0.933729	0.92606	D	0.571116940105998	0.71377	5.641609	0.620875087269441	0.76457	6.494692	0.999927777652176	0.46280	0.706298	0.61202	0	0.59043	0.45803	0	0.709663	0.75317	0	0.579976	0.35079	0	.	.	5.4	5.4	0.77957	7.238000	0.77628	7.637000	0.63009	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:0.0:1.0:0.0	18.531	0.90944	371	0.84287	Fibronectin type III|Fibronectin type III|Fibronectin type III;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.013595	0.015152	0.006793	0.023392	0.050000	0.008621	0.018293	0.015152	0.08333	601.83	36	chr1	29275715	.	G	T	601.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.532;DP=237;ExcessHet=0;FS=1.139;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.38;ReadPosRankSum=-2.191;SOR=0.456	GT:AD:DP:GQ:PL	0/1:32,26:58:99:612,0,908	5	0	1	0
chr1	30739047	30739047	G	A	exonic	LAPTM5	.	nonsynonymous SNV	LAPTM5:NM_006762:exon5:c.C403T:p.P135S	.	423	1086	13	0	0	13	0.00594966	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.508	.	0.0068	0.00379393	0.0123	0.0018	0.0084	0	0.0716	0.0162	0.0242	0.0009	0.0067852	1049	154602	rs34101571	0.0092	0.0092	0.0093	0.0090	0.0093	0.0090	0.0090	0.0092	0.0091	0.0015	0.0057	0.0133	0	0.0325	0.0089	0.0093	0.0085	0.0012	0.0081	0.0081	0.0071	0.0093	0.0087	0.0078	0.0076	0.0082	0.0079	0.0019	0	0.0069	0.0121	0	0.0360	0.0306	0.0087	0.0085	0.0014	0.182	0.21801	T	0.231	0.25061	T	1.0	0.90584	D	1.0	0.97372	D	0.000014	0.62929	D	0.071834	0.912274	0.36443	D	2.82	0.82106	M	-0.04	0.63240	T	-3.14	0.64019	D	0.442	0.48042	-0.2830	0.75458	T	0.253	0.62281	T	10	0.0086191	0.00195	T	.	.	.	0.508	0.78848	.	.	0.713346928536	0.71084	0.7722297890996368	0.77172	0.451262029509	0.44877	0.497715383768	0.38509	T	0.376112	0.73957	T	-0.131729	0.31217	T	0.0459654	0.73317	D	0.0293732744053332	0.01894	T	0.752425	0.37456	T	0.15051475	0.34262	0.17167628	0.39367	0.15051475	0.34261	0.17167628	0.39366	-2.585	0.06390	T	.	.	0.200	0.42404	B	.	.	3.249846	0.44396	21.9	0.99629821214065184	0.75959	0.79126	0.39151	D	AEFGBHCI	0.502431	0.53485	D	0.297796703602127	0.56036	3.767906	0.219991395826243	0.50956	3.282586	0.999999987528689	0.74766	0.722319	0.85440	0	0.698795	0.70079	0	0.565031	0.19037	0	0.714379	0.83352	0	.	.	5.73	4.81	0.61401	4.314000	0.58957	6.720000	0.56427	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.607000	0.31564	0.0:0.1653:0.8347:0.0	12.726	0.56545	958	0.09170	.	.	.	.	.	rs34101571	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.008065	0.010101	0.009537	0.000000	0.050000	0.017241	0.009202	0.011364	0.08333	405.83	34	chr1	30739047	.	G	A	405.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.99;DP=207;ExcessHet=0;FS=19.688;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.94;ReadPosRankSum=-0.195;SOR=3.763	GT:AD:DP:GQ:PL	0/1:21,13:34:99:416,0,568	5	0	1	0
chr1	32470994	32470994	A	G	exonic	ZBTB8B	.	nonsynonymous SNV	ZBTB8B:NM_001145720:exon2:c.A370G:p.I124V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.139	0.00134643491295	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.286e-06	4.104e-06	2.819e-06	5.793e-06	0.0004	1.54e-06	1.01e-06	6.159e-05	2.546e-05	0	0	0	0	0	0.0004	9.267e-07	1.72e-05	2.524e-05	6.571e-06	6.567e-06	1.285e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	.	.	.	0.058	0.46182	T	0.994	0.66517	D	0.987	0.77487	D	0.000000	0.84330	D	0.000000	0.999632	0.47961	D	1.445	0.36358	L	.	.	.	.	.	.	0.271	0.30687	-1.1097	0.03096	T	0.063	0.26172	T	10	0.29566574	0.47134	T	0.001346	0.01910	T	.	.	0.337	0.32654	0.0846915920261	0.08053	0.40783824697154986	0.40699	0.0989216507095	0.11174	0.8647762537	0.91814	D	0.064272	0.32390	T	0.0124478	0.53358	T	-0.219896	0.52747	T	0.932237207889557	0.59814	D	0.873013	0.58094	D	0.15337496	0.34770	0.14278111	0.33955	0.15337496	0.34769	0.14278111	0.33954	-9.464	0.70635	D	.	.	0.496	0.64421	A	.	.	3.669002	0.52162	23.2	0.99851908097937025	0.93102	0.93968	0.59717	D	AEFDBCI	0.748197	0.69002	D	0.4960875757821	0.66861	5.005253	0.518596173012303	0.69241	5.332589	0.999853959832266	0.44174	0.646311	0.45356	0	0.610034	0.51514	0	0.645312	0.48771	0	0.530356	0.10902	0	.	.	5.22	5.22	0.72285	6.215000	0.72150	11.267000	0.91274	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.020000	0.11549	1.0:0.0:0.0:0.0	14.990	0.71040	270	0.89404	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1133.83	36	chr1	32470994	.	A	G	1133.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.765;DP=277;ExcessHet=0;FS=5.5;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.03;ReadPosRankSum=0.65;SOR=0.314	GT:AD:DP:GQ:PL	0/1:43,44:87:99:1144,0,1180	5	0	1	0
chr1	33493612	33493612	A	G	exonic	ZSCAN20	.	nonsynonymous SNV	ZSCAN20:NM_001377378:exon5:c.A1708G:p.M570V,ZSCAN20:NM_001377379:exon6:c.A916G:p.M306V,ZSCAN20:NM_001377376:exon7:c.A1870G:p.M624V,ZSCAN20:NM_001377377:exon7:c.A1867G:p.M623V,ZSCAN20:NM_145238:exon7:c.A1870G:p.M624V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.043	0.00370673709938	.	0.000599042	0.0004	0.0001	0	0.0055	0	1.577e-05	0	9.439e-05	0.0003363	52	154602	rs187017447	0.0001	0.0001	0.0002	0.0001	0.0048	0.0001	0.0001	0.0042	0.0040	0	2.462e-05	0	0.0048	0	0.0002	1.011e-05	5.133e-05	0.0001	0.0002	0.0002	0.0002	0.0002	0.0058	0.0001	0.0001	0.0042	0.0036	0	0	0	0	0.0058	0	0	1.47e-05	0	0	.	.	.	0.594	0.08106	T	0.0	0.02946	B	0.0	0.01387	B	0.681464	0.06094	N	1.182760	1	0.08975	N	0.895	0.22405	L	3.41	0.05574	T	.	.	.	0.149	0.15187	-1.0098	0.26981	T	0.029	0.12322	T	9	0.0073409677	0.00167	T	0.003707	0.08589	T	0.043	0.11576	.	.	0.184867976434	0.18130	0.3441181281539628	0.34325	0.211509764548	0.23653	0.223565071821	0.01525	T	0.011109	0.09952	T	-0.686812	0.00044	T	-0.757553	0.03201	T	0.00687624322253959	0.00078	T	0.654634	0.26482	T	0.06609247	0.14189	0.059430644	0.11153	0.06609247	0.14189	0.059430644	0.11153	-2.403	0.05151	T	.	.	0.078	0.06942	B	.	.	0.786851	0.11572	8.164	0.26445235583182997	0.01267	0.18362	0.20229	N	AEFDBI	0.044691	0.07222	N	-1.0086050475514	0.08424	0.3949537	-0.96940811456387	0.10476	0.5278841	0.00362449457990378	0.10207	0.651	0.46895	0	0.653731	0.59785	0	0.65145	0.50148	0	0.491896	0.07777	0	.	.	4.08	1.72	0.23498	2.222000	0.42568	0.599000	0.19904	0.756000	0.94297	0.701000	0.28635	0.000000	0.08366	0.312000	0.24784	0.6558:0.2247:0.1195:0.0	3.730	0.08016	398	0.82839	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	457.83	36	chr1	33493612	.	A	G	457.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.506;DP=216;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.45;ReadPosRankSum=-0.515;SOR=0.56	GT:AD:DP:GQ:PL	0/1:21,19:40:99:468,0,561	5	0	1	0
chr1	42738514	42738514	C	T	exonic	CLDN19	.	nonsynonymous SNV	CLDN19:NM_001123395:exon2:c.G295A:p.V99I,CLDN19:NM_001185117:exon2:c.G295A:p.V99I,CLDN19:NM_148960:exon2:c.G295A:p.V99I	Hypomagnesemia 5, renal, with ocular involvement, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.458	0.0577691955165	.	.	7.488e-05	0	0	0	0.0002	0.0001	0	0	5.82e-05	9	154602	rs752926836	2.326e-05	2.326e-05	3.131e-05	1.513e-05	2.518e-05	1.674e-05	1.477e-05	1.746e-05	1.503e-05	0	0	0	0	0.0001	0	2.518e-05	0	0	2.628e-05	2.626e-05	3.853e-05	1.345e-05	4.825e-05	8.14e-06	5.14e-06	8e-06	2.99e-06	4.825e-05	0	0	0	0	9.413e-05	0	0	0.0005	0	0.285	0.16628	T	0.565	0.23097	T	0.979	0.59044	D	0.701	0.54186	P	0.000000	0.84330	D	0.000000	1	0.81001	D	0.775	0.19437	N	-2.51	0.89293	D	-0.33	0.13035	N	0.324	0.37093	-0.0142	0.81960	T	0.593	0.85456	D	10	0.30832154	0.48328	T	0.057769	0.67084	D	0.458	0.75619	0.501	0.59304	0.792991935701	0.79106	0.44643663879565365	0.44561	0.722490668574	0.62282	0.655031621456	0.60700	T	0.293274	0.66598	T	-0.0577867	0.43252	T	-0.12314	0.61543	T	0.204735174775124	0.20674	T	0.814619	0.46941	T	0.17563458	0.38432	0.16240235	0.37727	0.17563458	0.38432	0.16240235	0.37726	-3.261	0.13239	T	0.1309966575369276	0.13834	0.121	0.24967	B	.;.;.	.;.;.	3.695560	0.52675	23.3	0.99780562508736903	0.86780	0.94165	0.60310	D	AEFDBI	0.730957	0.67819	D	0.134825852912223	0.48094	3.026129	0.169875839404158	0.48204	3.039577	0.99999999999998	0.74766	0.695654	0.57023	0	0.588066	0.40923	0	0.723109	0.80598	0	0.613276	0.41899	0	.	.	4.89	4.89	0.63387	6.167000	0.71757	5.893000	0.50786	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.366000	0.26021	0.0:1.0:0.0:0.0	15.548	0.75864	507	0.75469	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1581.83	34	chr1	42738514	.	C	T	1581.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.853;DP=334;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.21;ReadPosRankSum=-0.61;SOR=0.689	GT:AD:DP:GQ:PL	0/1:85,70:155:99:1592,0,1942	5	0	1	0
chr1	52237497	52237497	T	C	exonic	ZFYVE9	.	nonsynonymous SNV	ZFYVE9:NM_004799:exon4:c.T80C:p.V27A,ZFYVE9:NM_007324:exon4:c.T80C:p.V27A	.	441	1070	10	1	0	12	0.00557621	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.022	.	0.0022	0.0185703	0.0102	0.0008	0.0013	0.0312	0.0003	0.0033	0.0081	0.0461	0.0091655	1417	154602	rs41309181	0.0059	0.0059	0.0048	0.0069	0.0388	0.0058	0.0057	0.0377	0.0373	0.0006	0.0014	0.0011	0.0336	0.0004	0.0019	0.0031	0.0064	0.0388	0.0039	0.0039	0.0034	0.0045	0.0436	0.0037	0.0036	0.0388	0.0369	0.0008	0	0.0009	0.0017	0.0293	0	0	0.0026	0.0019	0.0436	0.099	0.30656	T	0.388	0.15602	T	0.002	0.11197	B	0.003	0.12133	B	0.034062	0.24817	N	0.279500	0.802651	0.29096	N	1.67	0.42885	L	1.0	0.42888	T	-1.23	0.31170	N	0.135	0.14054	-1.0461	0.15505	T	0.034	0.14683	T	10	0.0015945137	0.00018	T	.	.	.	0.022	0.04323	.	.	0.117191471859	0.11215	0.16088784943896667	0.16009	0.127045522355	0.14318	0.340613037348	0.16529	T	0.007779	0.07165	T	-0.5898	0.00168	T	-0.589997	0.13666	T	0.0138006016687131	0.00261	T	0.721628	0.34690	T	0.0861392	0.20009	0.11345984	0.27383	0.0861392	0.20009	0.11345984	0.27383	-3.842	0.22993	T	.	.	0.086	0.38227	B	.;.;.	.;.;.	2.646606	0.34451	19.63	0.99385756913505308	0.62113	0.83820	0.42915	D	AEFGBHCI	0.540365	0.55696	D	-0.0179780369878319	0.41043	2.447912	0.185387592604715	0.49044	3.112605	0.999999999988578	0.74766	0.50712	0.20391	0	0.588015	0.36545	0	0.658983	0.55881	0	0.635259	0.50027	0	.	.	5.77	5.77	0.91077	3.954000	0.56414	5.111000	0.47513	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0694:0.0:0.9306	11.976	0.52383	335	0.86220	.;.;.	.	.	.	.	rs41309181	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.008056	0.000000	0.006793	0.005848	0.000000	0.000000	0.003049	0.018939	0.08333	1383.83	33	chr1	52237497	.	T	C	1383.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.39;DP=279;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.81;ReadPosRankSum=0.043;SOR=0.684	GT:AD:DP:GQ:PL	0/1:53,55:108:99:1394,0,1254	5	0	1	0
chr1	52357874	52357874	C	G	exonic	CC2D1B	.	nonsynonymous SNV	CC2D1B:NM_001330585:exon14:c.G1486C:p.V496L,CC2D1B:NM_032449:exon14:c.G1504C:p.V502L	.	405	1103	14	0	0	14	0.00630631	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.020	.	0.0022	0.0179712	0.0090	0.0008	0.0012	0.0306	0.0003	0.0034	0.0063	0.0485	0.0086609	1339	154602	rs76320728	0.0058	0.0059	0.0048	0.0068	0.0383	0.0057	0.0056	0.0372	0.0367	0.0006	0.0014	0.0011	0.0334	0.0004	0.0021	0.0031	0.0064	0.0383	0.0039	0.0039	0.0034	0.0045	0.0437	0.0036	0.0035	0.0389	0.0370	0.0008	0	0.0009	0.0017	0.0285	0	0	0.0026	0.0019	0.0437	0.451	0.10083	T	0.396	0.16425	T	0.001	0.07471	B	0.003	0.12133	B	0.691515	0.10171	N	0.862354	1	0.81001	D	1.625	0.41611	L	1.88	0.23884	T	-0.74	0.30346	N	0.237	0.26717	-1.0990	0.04214	T	0.017	0.06807	T	10	0.0022404194	0.00033	T	.	.	.	0.045	0.12272	0.128	0.03331	0.299770980665	0.29595	0.17482901126203462	0.17401	0.0278988715158	0.02864	0.533581197262	0.43540	T	0.004456	0.03857	T	-0.52691	0.00401	T	-0.498946	0.22457	T	0.00713622488867955	0.00081	T	0.521748	0.28920	T	0.03847287	0.05131	0.0529158	0.08811	0.03847287	0.05130	0.0529158	0.08810	-4.194	0.29421	T	.	.	0.095	0.19478	B	.;.	.;.	1.934552	0.24574	16.45	0.97520929957154756	0.34405	0.93193	0.57568	D	AEFDBCI	0.219895	0.34472	N	-0.298952073596878	0.29188	1.616482	-0.113732369924845	0.34835	2.00837	0.425103727706271	0.20324	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.37	4.43	0.52967	2.053000	0.40951	2.161000	0.30982	0.599000	0.40250	1.000000	0.71638	0.502000	0.25210	0.777000	0.36790	0.1937:0.8063:0.0:0.0	10.956	0.46573	355	0.85216	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.007553	0.000000	0.005435	0.005848	0.000000	0.000000	0.003049	0.018939	0.08333	797.83	33	chr1	52357874	.	C	G	797.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.704;DP=257;ExcessHet=0;FS=0.847;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=9.85;ReadPosRankSum=0.46;SOR=0.775	GT:AD:DP:GQ:PL	0/1:47,34:81:99:808,0,1278	5	0	1	0
chr1	54700342	54700342	C	T	exonic	MROH7	.	nonsynonymous SNV	MROH7:NM_001291332:exon16:c.C1540T:p.R514C,MROH7:NM_001039464:exon18:c.C2986T:p.R996C	.	427	1083	12	0	0	12	0.00550964	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.160	0.0230320514409	0.0016	0.00179712	0.0024	0.0005	0.0058	0.0001	0.0005	0.0018	0.0058	0.0057	0.0020569	318	154602	rs139827199	0.0017	0.0017	0.0016	0.0018	0.0049	0.0017	0.0016	0.0045	0.0044	0.0004	0.0027	0.0009	2.519e-05	0.0004	0.0038	0.0016	0.0015	0.0049	0.0012	0.0012	0.0014	0.0011	0.0041	0.0011	0.0010	0.0027	0.0023	0.0004	0	0.0010	0.0003	0.0002	0.0003	0.0034	0.0018	0.0024	0.0041	0.003	0.68238	D	0.001	0.83351	D	1.0	0.90584	D	0.917	0.65306	D	0.303897	0.14550	N	0.610623	0.997959	0.49512	D	2.16	0.60381	M	4.72	0.02121	T	-3.93	0.73267	D	0.683	0.69913	-1.0772	0.07901	T	0.085	0.33014	T	10	0.013888657	0.00293	T	0.023032	0.45967	T	0.160	0.41473	.	.	0.186928172975	0.18263	0.21068615473690672	0.20984	0.473772204967	0.46581	0.597358465195	0.52532	T	0.132132	0.46203	T	-0.38034	0.03101	T	-0.318018	0.42791	T	0.0268653159448051	0.01525	T	0.876412	0.58869	D	0.20939183	0.43205	0.21668613	0.46305	0.20939183	0.43205	0.21668613	0.46304	-6.247	0.48301	T	.	.	0.332	0.55390	B	.;.	.;.	4.189719	0.63134	24.5	0.9992411981508893	0.98980	0.45925	0.27646	N	AEFBI	0.116902	0.22923	N	0.392515429573369	0.61017	4.297238	0.309431187916425	0.56094	3.77228	8.28159807578539E-5	0.04703	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.586402	0.36253	0	.	.	5.5	3.47	0.38831	1.035000	0.29824	0.394000	0.17923	0.599000	0.40250	0.954000	0.33273	0.065000	0.22112	0.993000	0.69303	0.3821:0.6179:0.0:0.0	10.283	0.42730	802	0.44336	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.005040	0.000000	0.002717	0.000000	0.000000	0.008621	0.018293	0.007576	0.08333	992.83	35	chr1	54700342	.	C	T	992.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.125;DP=260;ExcessHet=0;FS=0.856;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.26;ReadPosRankSum=-0.165;SOR=0.862	GT:AD:DP:GQ:PL	0/1:41,40:81:99:1003,0,1048	5	0	1	0
chr1	56511976	56511976	T	C	exonic	PLPP3	.	nonsynonymous SNV	PLPP3:NM_003713:exon5:c.A810G:p.I270M	.	427	1094	1	0	0	1	0.00045683	0.0507	0.368	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.321	0.0696274306782	.	.	8.238e-06	0	0	0	0	0	0	6.056e-05	6.5e-06	1	154602	rs759898320	5.475e-06	5.472e-06	4.085e-06	6.878e-06	0.0003	2.36e-06	1.7e-06	6.094e-05	2.522e-05	0	0	0	0	0	0.0003	0	1.656e-05	5.806e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.042	0.41637	D	0.031	0.53788	D	0.146	0.27821	B	0.369	0.43514	B	0.000507	0.43753	D	0.256920	0.999999	0.58761	D	.	.	.	-0.95	0.75438	T	-1.48	0.36189	N	0.474	0.50958	-0.7432	0.58288	T	0.294	0.66564	T	9	0.26385334	0.43867	T	0.069627	0.70782	D	0.321	0.64318	0.425	0.47021	0.494013581214	0.49034	0.5672986322911534	0.56657	1.47327362475	0.86575	0.534450471401	0.43660	T	0.588503	0.86633	D	-0.123209	0.32599	T	-0.211158	0.53585	T	0.413005832332737	0.29430	T	0.820318	0.47908	T	0.102521986	0.24226	0.14456643	0.34317	0.102521986	0.24226	0.14456643	0.34317	-6.481	0.50140	T	.	.	0.214	0.44332	B	.	.	2.708843	0.35399	19.89	0.99685513712955909	0.79574	0.88553	0.48534	D	AEFBI	0.487032	0.52595	N	-0.0493787954628986	0.39629	2.340165	0.0667689791203222	0.42890	2.602256	0.998499665981663	0.37071	0.722319	0.85440	0	0.610034	0.51514	0	0.698795	0.65105	0	0.714379	0.83352	0	.	.	5.93	3.61	0.40494	1.609000	0.36469	2.320000	0.32129	-0.123000	0.13640	1.000000	0.71638	1.000000	0.68203	0.786000	0.37147	0.1605:0.1297:0.0:0.7098	4.563	0.11565	830	0.39242	Phosphatidic acid phosphatase type 2/haloperoxidase|Phosphatidic acid phosphatase type 2/haloperoxidase	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	2249.83	34	chr1	56511976	.	T	C	2249.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.847;DP=338;ExcessHet=0;FS=0.586;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.89;ReadPosRankSum=-1.884;SOR=0.732	GT:AD:DP:GQ:PL	0/1:69,93:162:99:2260,0,1728	5	0	1	0
chr1	56940892	56940892	C	T	exonic	C8B	.	stopgain	C8B:NM_000066:exon9:c.G1355A:p.W452X,C8B:NM_001278543:exon10:c.G1199A:p.W400X,C8B:NM_001278544:exon10:c.G1169A:p.W390X	C8 deficiency, type II, Autosomal recessive	.	.	.	.	.	.	.	.	.	YES	1351333	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Pathogenic	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs200077558	1.3e-05	1.3e-05	1.225e-05	1.375e-05	1.709e-05	8.31e-06	6.7e-06	1.093e-05	8.81e-06	0	0	0	0	0	0	1.709e-05	0	0	1.315e-05	1.313e-05	1.285e-05	1.347e-05	2.416e-05	2.19e-06	8.2e-07	.	.	2.416e-05	0	0	0	0	0	0	1.471e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	0.000000	0.84330	D	0.000000	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.702	0.71587	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.614224	0.98017	D	0.66	0.99401	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive;.;.	High;.;.	9.750943	0.99279	43	0.99731189590051472	0.82761	0.98924	0.88695	D	AEFI	0.105271	0.21038	N	0.900365014889063	0.91778	11.059	0.779733292651363	0.88349	9.549396	0.999999955263291	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.657636	0.52715	0	0.564101	0.26826	0	.	.	5.25	5.25	0.73169	5.517000	0.66777	4.594000	0.43970	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:1.0:0.0:0.0	19.208	0.93730	867	0.32089	.;Membrane attack complex component/perforin (MACPF) domain|Membrane attack complex component/perforin (MACPF) domain|Membrane attack complex component/perforin (MACPF) domain;Membrane attack complex component/perforin (MACPF) domain|Membrane attack complex component/perforin (MACPF) domain|Membrane attack complex component/perforin (MACPF) domain	.	.	.	.	.	Pathogenic	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	888.83	37	chr1	56940892	.	C	T	888.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.22;DP=247;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.7;ReadPosRankSum=1.14;SOR=0.718	GT:AD:DP:GQ:PL	0/1:36,34:70:99:899,0,900	5	0	1	0
chr1	64673166	64673166	T	C	exonic	CACHD1	.	nonsynonymous SNV	CACHD1:NM_001293274:exon17:c.T1631C:p.I544T,CACHD1:NM_020925:exon18:c.T2519C:p.I840T	.	433	1081	7	1	0	9	0.00414556	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.605	.	.	0.00259585	0.0011	0.0002	0.0002	0	0	0.0002	0.0011	0.0071	0.001022	158	154602	rs554868581	0.0006	0.0006	0.0003	0.0008	0.0077	0.0005	0.0005	0.0072	0.0070	5.978e-05	6.708e-05	0	2.519e-05	0	0.0017	8.724e-05	0.0006	0.0077	0.0004	0.0004	0.0003	0.0005	0.0089	0.0003	0.0003	0.0067	0.0060	2.438e-05	0	0.0001	0	0	0	0	0.0001	0.0005	0.0089	0.003	0.68238	D	0.007	0.69154	D	.	.	.	.	.	.	0.000000	0.84330	D	0.000000	1	0.81001	D	.	.	.	1.54	0.30133	T	-3.66	0.70067	D	0.965	0.97535	-0.9659	0.38033	T	0.118	0.41473	T	10	0.011742651	0.00255	T	.	.	.	0.605	0.84452	.	.	0.386522206555	0.38262	0.8364693926502832	0.83606	0.660444123774	0.58870	0.890380740166	0.95307	D	.	.	.	-0.0883598	0.38348	T	0.105428	0.77268	D	0.0737399200489912	0.09167	T	0.942106	0.78341	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.972	0.89681	P	.;.	.;.	4.690585	0.75159	26.3	0.99847436902836806	0.92750	0.97863	0.77695	D	AEFBI	0.841213	0.75842	D	0.721523553504972	0.81043	7.430808	0.732699645171508	0.84861	8.411538	0.999997010215579	0.74766	0.67177	0.52595	0	0.573888	0.26702	0	0.702456	0.68683	0	0.635551	0.53088	0	.	.	5.75	5.75	0.90390	7.565000	0.81337	7.769000	0.68436	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.986000	0.61781	0.0:0.0:0.0:1.0	16.059	0.80632	766	0.49742	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002518	0.000000	0.000000	0.000000	0.000000	0.008621	0.006098	0.007576	0.08333	818.83	44	chr1	64673166	.	T	C	818.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.94;DP=250;ExcessHet=0;FS=2.46;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.88;ReadPosRankSum=0.986;SOR=0.399	GT:AD:DP:GQ:PL	0/1:30,29:59:99:829,0,795	5	0	1	0
chr1	65596511	65596511	C	T	exonic	LEPR	.	nonsynonymous SNV	LEPR:NM_001198687:exon6:c.C767T:p.S256F,LEPR:NM_001198688:exon6:c.C767T:p.S256F,LEPR:NM_001198689:exon6:c.C767T:p.S256F,LEPR:NM_001003679:exon7:c.C767T:p.S256F,LEPR:NM_001003680:exon7:c.C767T:p.S256F,LEPR:NM_002303:exon7:c.C767T:p.S256F	Obesity, morbid, due to leptin receptor deficiency	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.233	0.0245852610272	.	.	8.301e-06	0	0	0	0	1.508e-05	0	0	6.5e-06	1	154602	rs761468512	6.846e-07	6.84e-07	0	1.376e-06	8.999e-07	0	0	.	.	0	0	0	0	0	0	8.999e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.368	0.30097	T	0.153	0.32783	T	0.686	0.41548	P	0.26	0.39460	B	0.004179	0.34034	N	0.333921	0.989729	0.81001	D	2.85	0.82803	M	0.35	0.58029	T	-2.07	0.47344	N	0.47	0.56145	-0.8846	0.49390	T	0.108	0.39295	T	10	0.51285356	0.62198	D	0.024585	0.47577	T	0.233	0.53499	0.583	0.70990	0.817944786137	0.81623	0.44141066566068343	0.44058	0.204006883498	0.22813	0.477008908987	0.35645	T	0.247229	0.61683	T	0.129404	0.67302	D	-0.0518965	0.66893	D	0.601150453090668	0.36446	D	0.865513	0.59649	D	0.12119071	0.28504	0.13115053	0.31498	0.12119071	0.28503	0.13115053	0.31497	-7.066	0.54631	T	0.6227416462637241	0.69128	0.143	0.31381	B	.;.;.;.;.;.	.;.;.;.;.;.	3.385483	0.46848	22.4	0.95077099875205917	0.26123	0.71544	0.35059	D	AEFBI	0.401891	0.47619	N	0.126591049945753	0.47705	2.992563	0.195990004238428	0.49625	3.163603	0.00339399510987734	0.10093	0.638212	0.43195	0	0.588015	0.36545	0	0.618467	0.43123	0	0.668105	0.65232	0	.	.	5.51	5.51	0.81769	2.016000	0.40591	2.716000	0.34274	0.545000	0.25583	0.999000	0.42656	0.997000	0.33255	0.542000	0.29985	0.0:0.7671:0.1552:0.0777	9.525	0.38322	900	0.24599	.;.;Fibronectin type III|Fibronectin type III|Fibronectin type III;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1029.83	35	chr1	65596511	.	C	T	1029.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.339;DP=279;ExcessHet=0;FS=1.634;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.62;ReadPosRankSum=-0.119;SOR=0.522	GT:AD:DP:GQ:PL	0/1:51,46:97:99:1040,0,1144	5	0	1	0
chr1	78650467	78650467	A	T	exonic	IFI44	.	nonsynonymous SNV	IFI44:NM_006417:exon2:c.A272T:p.K91I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.038	0.00269518398719	.	.	8.248e-06	0	0	0	0	0	0.0011	0	6.5e-06	1	154602	rs766905483	6.157e-06	6.156e-06	4.084e-06	8.251e-06	0.0003	2.9e-06	2.1e-06	6.094e-05	2.522e-05	0	0	0	0	0	0.0003	0	6.624e-05	3.478e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.19	0.21144	T	0.163	0.31125	T	0.64	0.40395	P	0.245	0.38823	B	0.335149	0.04154	N	1.460970	1	0.08975	N	1.59	0.40313	L	3.08	0.08460	T	-1.49	0.36385	N	0.239	0.26957	-0.9583	0.39497	T	0.005	0.01833	T	10	0.12330383	0.23405	T	0.002695	0.05521	T	0.038	0.09825	0.497	0.58678	0.290590437066	0.28656	0.37665674151490136	0.37579	0.0164037096902	0.01580	0.274735867977	0.06769	T	0.060245	0.31333	T	-0.268509	0.11924	T	-0.623471	0.10915	T	0.0868102833628654	0.10836	T	0.365963	0.08520	T	0.09800298	0.23109	0.051908627	0.08447	0.09800298	0.23109	0.051908627	0.08446	-4.779	0.34345	T	.	.	0.202	0.42650	B	.	.	0.863208	0.12354	8.895	0.89001380245015072	0.18429	0.06323	0.12319	N	AEFDGBCI	0.053238	0.09575	N	-0.794250917708757	0.13459	0.6631716	-0.920361417890202	0.11614	0.592765	0.999908933597722	0.45458	0.627647	0.40530	0	0.672317	0.65289	0	0.547309	0.15389	0	0.638787	0.57140	0	.	.	3.27	0.789	0.17750	0.557000	0.23159	0.846000	0.22090	0.550000	0.28109	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.5379:0.2462:0.0:0.2159	3.592	0.07540	594	0.68584	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	1389.83	33	chr1	78650467	.	A	T	1389.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.465;DP=294;ExcessHet=0;FS=0.684;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.58;ReadPosRankSum=1.59;SOR=0.6	GT:AD:DP:GQ:PL	0/1:64,56:120:99:1400,0,1771	5	0	1	0
chr1	81943154	81943154	A	G	exonic	ADGRL2	.	nonsynonymous SNV	ADGRL2:NM_001297705:exon5:c.A583G:p.S195G,ADGRL2:NM_001297706:exon5:c.A583G:p.S195G,ADGRL2:NM_001330645:exon5:c.A583G:p.S195G,ADGRL2:NM_001350699:exon5:c.A583G:p.S195G,ADGRL2:NM_001366009:exon5:c.A583G:p.S195G,ADGRL2:NM_012302:exon5:c.A583G:p.S195G,ADGRL2:NM_001297704:exon6:c.A583G:p.S195G,ADGRL2:NM_001350698:exon6:c.A595G:p.S199G,ADGRL2:NM_001366002:exon6:c.A583G:p.S195G,ADGRL2:NM_001366005:exon6:c.A595G:p.S199G,ADGRL2:NM_001366006:exon6:c.A595G:p.S199G,ADGRL2:NM_001366007:exon6:c.A595G:p.S199G,ADGRL2:NM_001366008:exon9:c.A595G:p.S199G,ADGRL2:NM_001366003:exon11:c.A595G:p.S199G,ADGRL2:NM_001366004:exon11:c.A595G:p.S199G	.	432	1089	1	0	0	1	0.000458926	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.081	0.0161847713272	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.000125	0.49741	D	0.178663	0.824014	0.34818	D	.	.	.	-2.39	0.88377	D	1.33	0.00936	N	0.177	0.22357	-0.8688	0.50619	T	0.118	0.41385	T	10	0.085921854	0.14554	T	0.016185	0.37323	T	0.244	0.55061	0.369	0.37850	0.110392049598	0.10638	0.7411071961284224	0.74056	0.639625809269	0.57622	0.659765481949	0.61376	T	0.221054	0.68515	T	-0.0430209	0.45500	T	-0.299573	0.44769	T	0.833146810531616	0.48776	D	0.878012	0.59262	D	0.061853215	0.12856	0.061190788	0.11776	0.061853215	0.12855	0.061190788	0.11775	-2.413	0.06139	T	.	.	0.056	0.01179	B	.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.	2.866185	0.37883	20.6	0.28635036703791977	0.01480	0.78705	0.38871	D	AEFBI	0.227283	0.35111	N	-0.462554681930954	0.23315	1.251235	-0.138169821425411	0.33867	1.941849	0.985778308761653	0.30946	0.706298	0.61202	0	0.573888	0.26702	0	0.702456	0.68683	0	0.613276	0.41899	0	.	.	5.9	5.9	0.94952	4.184000	0.58121	11.314000	0.92500	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.8106:0.0:0.1894:0.0	6.299	0.20311	950	0.11238	Olfactomedin-like domain|Olfactomedin-like domain|Olfactomedin-like domain;Olfactomedin-like domain|Olfactomedin-like domain|Olfactomedin-like domain;.;.;Olfactomedin-like domain|Olfactomedin-like domain|Olfactomedin-like domain;.;.;.;.;.;Olfactomedin-like domain|Olfactomedin-like domain|Olfactomedin-like domain;Olfactomedin-like domain|Olfactomedin-like domain|Olfactomedin-like domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1195.83	35	chr1	81943154	.	A	G	1195.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.468;DP=313;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.31;ReadPosRankSum=1.61;SOR=0.66	GT:AD:DP:GQ:PL	0/1:64,52:116:99:1206,0,1613	5	0	1	0
chr1	86440317	86440317	G	A	exonic	CLCA2	.	nonsynonymous SNV	CLCA2:NM_006536:exon8:c.G1373A:p.R458H	.	431	1084	6	1	0	8	0.00367647	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.012	0.00218721796947	0.0002	.	0.0002	0	0	0.0001	0	0.0003	0	0.0001	0.0001358	21	154602	rs150391383	0.0001	0.0001	0.0001	0.0002	0.0009	0.0001	0.0001	0.0003	0.0002	2.993e-05	0.0001	0	5.041e-05	0	0.0009	0.0001	0.0002	6.983e-05	6.575e-05	6.568e-05	6.427e-05	6.729e-05	0.0002	3.519e-05	2.618e-05	4.766e-05	3.34e-05	2.415e-05	0	0	0	0	0	0	0.0001	0.0005	0.0002	0.248	0.17239	T	0.167	0.30729	T	0.0	0.02946	B	0.001	0.04355	B	0.684293	0.10231	N	0.863935	1	0.08975	N	-0.56	0.02328	N	2.5	0.14408	T	0.36	0.03700	N	0.113	0.10056	-0.9196	0.45608	T	0.004	0.01470	T	10	0.033088803	0.01476	T	0.002187	0.04124	T	0.012	0.01476	.	.	0.0297737177859	0.01360	0.1356224354718933	0.13486	0.0792440916424	0.08917	0.208227068186	0.00738	T	0.054813	0.29830	T	-0.660967	0.00062	T	-0.897066	0.00523	T	0.0111651357844082	0.00163	T	0.345165	0.07572	T	0.025076851	0.01405	0.03016771	0.01440	0.025076851	0.01404	0.03016771	0.01440	-3.329	0.14113	T	.	.	0.051	0.00191	B	.	.	-0.202555	0.03078	0.482	0.74443209500855789	0.10697	0.00321	0.01686	N	AEFBI	0.034798	0.04373	N	-1.34622649766614	0.03164	0.1408965	-1.34377283163789	0.03880	0.18189	0.0151610566519318	0.12681	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	5.77	-3.16	0.04897	-0.290000	0.08390	-1.277000	0.05837	-0.102000	0.15922	0.000000	0.06391	0.000000	0.08366	0.008000	0.08271	0.5495:0.1008:0.2585:0.0912	3.780	0.08197	733	0.53988	von Willebrand factor, type A|von Willebrand factor, type A	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001007	0.000000	0.000000	0.000000	0.000000	0.000000	0.006098	0.000000	0.08333	632.83	43	chr1	86440317	.	G	A	632.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.619;DP=231;ExcessHet=0;FS=1.117;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.51;ReadPosRankSum=0.152;SOR=0.935	GT:AD:DP:GQ:PL	0/1:30,25:55:99:643,0,773	5	0	1	0
chr1	99884396	99884396	T	C	exonic	AGL	.	nonsynonymous SNV	AGL:NM_000028:exon19:c.T2491C:p.Y831H,AGL:NM_000642:exon19:c.T2491C:p.Y831H,AGL:NM_000643:exon19:c.T2491C:p.Y831H,AGL:NM_000644:exon19:c.T2491C:p.Y831H,AGL:NM_000646:exon19:c.T2443C:p.Y815H	Glycogen storage disease IIIa, Autosomal recessive;Glycogen storage disease IIIb, Autosomal recessive	.	.	.	.	.	.	.	.	.	YES	1488844	Glycogen_storage_disease_type_III	MONDO:MONDO:0009291,MedGen:C0017922,OMIM:232400,Orphanet:366	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.081	0.00911862377621	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.401e-06	7.43e-05	1.397e-06	1.405e-06	1.848e-06	2.3e-07	9e-08	3.1e-07	1.2e-07	0	0	0	0	0	0	1.848e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.052	0.39097	T	0.473	0.12142	T	0.517	0.50474	P	0.109	0.47728	B	0.002293	0.36846	N	0.305907	0.99907	0.46009	D	2.045	0.56016	M	1.57	0.29342	T	-0.65	0.18877	N	0.272	0.33250	-1.1132	0.02809	T	0.049	0.20711	T	10	0.27782464	0.45351	T	0.009119	0.23988	T	0.081	0.23632	0.336	0.32491	0.479744053436	0.47606	0.606268470227836	0.60557	0.11555191635	0.13036	0.707347929478	0.68209	T	0.099441	0.40426	T	-0.125642	0.32204	T	-0.418252	0.31276	T	0.677078485488892	0.39656	D	0.937306	0.76420	D	0.20774648	0.42990	0.14135508	0.33665	0.20774648	0.42990	0.14135508	0.33664	-6.617	0.51183	T	0.20745740101029875	0.27728	0.195	0.49038	B	.;.;.;.;.	.;.;.;.;.	3.365396	0.46485	22.3	0.99621718597315734	0.75473	0.99680	0.98609	D	AEBI	0.860591	0.77848	D	0.379094507883598	0.60291	4.216405	0.481746564574198	0.66782	4.996979	0.999723963512748	0.42220	0.651	0.46895	0	0.708844	0.79440	0	0.65145	0.50148	0	0.683762	0.67416	0	.	.	5.8	5.8	0.92081	7.619000	0.82253	7.878000	0.72341	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:0.0:0.0:1.0	16.134	0.81276	855	0.34697	Glycogen debranching enzyme, central domain;Glycogen debranching enzyme, central domain;Glycogen debranching enzyme, central domain;Glycogen debranching enzyme, central domain;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3333	1091.96	47	chr1	99884396	.	T	C	1091.96	.	AC=4;AF=0.333;AN=12;BaseQRankSum=-2.345;DP=458;ExcessHet=3.1439;FS=166.15;MLEAC=4;MLEAF=0.333;MQ=60;MQRankSum=0;QD=3.53;ReadPosRankSum=0.591;SOR=9.087	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:55,24:79:99:0|1:99884396_T_C:463,0,1224:99884396	2	0	4	0
chr1	99884400	99884400	T	C	exonic	AGL	.	nonsynonymous SNV	AGL:NM_000028:exon19:c.T2495C:p.I832T,AGL:NM_000642:exon19:c.T2495C:p.I832T,AGL:NM_000643:exon19:c.T2495C:p.I832T,AGL:NM_000644:exon19:c.T2495C:p.I832T,AGL:NM_000646:exon19:c.T2447C:p.I816T	Glycogen storage disease IIIa, Autosomal recessive;Glycogen storage disease IIIb, Autosomal recessive	.	.	.	.	.	.	.	.	.	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	0.153	0.0122640309764	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.38e-06	6.716e-05	1.374e-06	1.386e-06	9.081e-07	2.3e-07	9e-08	.	.	0	0	0	0	0	0	9.081e-07	1.668e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.124	0.27426	T	0.026	0.56640	D	0.0	0.21573	B	0.001	0.24526	B	0.000055	0.53742	D	0.164392	0.996604	0.43303	D	0.75	0.19020	N	1.65	0.27650	T	-0.36	0.13035	N	0.436	0.50327	-1.0535	0.13440	T	0.016	0.06711	T	10	0.188252	0.34372	T	0.012264	0.30673	T	0.153	0.40148	0.481	0.56142	0.347438807231	0.34349	0.6957915828848406	0.69520	0.0479730424621	0.05229	0.57926928997	0.49983	T	0.024605	0.18561	T	-0.114689	0.33995	T	-0.402519	0.33091	T	0.689807772636414	0.40239	D	0.921208	0.71446	D	0.15030582	0.34224	0.15235546	0.35850	0.15030582	0.34224	0.15235546	0.35849	-7.468	0.57385	T	0.12742211284755814	0.13043	0.196	0.46493	B	.;.;.;.;.	.;.;.;.;.	3.585879	0.50577	23.0	0.98956683015017666	0.49246	0.98949	0.89045	D	AEFBI	0.617707	0.60379	D	-0.259290584713923	0.30734	1.716485	0.0117534508968653	0.40260	2.399848	0.999723963512748	0.42220	0.651	0.46895	0	0.708844	0.79440	0	0.670488	0.60580	0	0.683762	0.67416	0	.	.	5.8	5.8	0.92081	5.882000	0.69458	7.878000	0.72341	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:0.0:0.0:1.0	16.134	0.81276	855	0.34697	Glycogen debranching enzyme, central domain;Glycogen debranching enzyme, central domain;Glycogen debranching enzyme, central domain;Glycogen debranching enzyme, central domain;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.25	482.03	48	chr1	99884400	.	T	C	482.03	.	AC=3;AF=0.25;AN=12;BaseQRankSum=-3.255;DP=427;ExcessHet=1.383;FS=229.354;MLEAC=3;MLEAF=0.25;MQ=60;MQRankSum=0;QD=2.06;ReadPosRankSum=0.338;SOR=8.222	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:62,19:81:99:0|1:99884396_T_C:277,0,2390:99884396	3	0	3	0
chr1	100484348	100484348	G	A	exonic	CDC14A	.	nonsynonymous SNV	CDC14A:NM_001319212:exon10:c.G155A:p.R52Q,CDC14A:NM_001319210:exon11:c.G1034A:p.R345Q,CDC14A:NM_001319211:exon11:c.G860A:p.R287Q,CDC14A:NM_003672:exon11:c.G1034A:p.R345Q,CDC14A:NM_033312:exon11:c.G1034A:p.R345Q,CDC14A:NM_033313:exon11:c.G1034A:p.R345Q	Deafness, autosomal recessive 105, Autosomal recessive	438	1058	26	0	0	26	0.0121382	.	.	YES	655019	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.067	.	0.0010	0.00279553	0.0024	0.0002	0.0004	0	0.0002	0.0019	0.0034	0.0089	0.0020828	322	154602	rs28364897	0.0014	0.0015	0.0012	0.0017	0.0112	0.0014	0.0014	0.0090	0.0082	0.0003	0.0005	0.0178	7.699e-05	7.535e-05	0.0112	0.0006	0.0032	0.0079	0.0013	0.0013	0.0013	0.0012	0.0079	0.0011	0.0011	0.0059	0.0052	9.638e-05	0	0.0003	0.0199	0	9.463e-05	0.0034	0.0010	0.0024	0.0079	0.588	0.05844	T	0.764	0.11691	T	0.007	0.14655	B	0.011	0.15521	B	0.012910	0.29014	N	0.417620	0.799534	0.81001	D	0.495	0.13372	N	2.99	0.09262	T	0.31	0.04022	N	0.086	0.06322	-1.0075	0.27696	T	0.006	0.02093	T	10	0.0040360093	0.00078	T	.	.	.	0.067	0.19503	.	.	0.610390267789	0.60725	0.3191335331216652	0.31826	0.172812368073	0.19455	0.393316864967	0.24136	T	0.012179	0.10748	T	-0.514471	0.00473	T	-0.507354	0.21588	T	0.0158800411563387	0.00374	T	0.929307	0.73951	D	0.0688873	0.15046	0.04700738	0.06676	0.07052366	0.15541	0.05272089	0.08742	-6.47	0.52410	T	0.08458565177691202	0.04682	0.089	0.11989	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	3.299508	0.45283	22.1	0.81189413631035934	0.13563	0.84773	0.43862	D	AEFBI	0.221071	0.34575	N	-0.281820392719237	0.29850	1.659077	-0.0366804278245337	0.38073	2.237921	0.988745731712769	0.31614	0.638212	0.43195	0	0.670034	0.63936	0	0.658983	0.55881	0	0.655142	0.61905	0	.	.	5.77	5.77	0.91077	2.919000	0.48534	6.661000	0.56247	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.743000	0.35541	0.0851:0.0:0.9148:0.0	10.909	0.46307	248	0.90287	.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.006048	0.000000	0.004076	0.011765	0.050000	0.000000	0.006098	0.003788	0.08333	644.83	35	chr1	100484348	.	G	A	644.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.475;DP=242;ExcessHet=0;FS=3.67;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.93;ReadPosRankSum=2.3;SOR=0.328	GT:AD:DP:GQ:PL	0/1:29,30:59:99:655,0,680	5	0	1	0
chr1	109281881	109281881	G	A	exonic	PSRC1	.	nonsynonymous SNV	PSRC1:NM_001350237:exon3:c.C257T:p.A86V,PSRC1:NM_001005290:exon4:c.C257T:p.A86V,PSRC1:NM_001032291:exon4:c.C257T:p.A86V,PSRC1:NM_001350238:exon4:c.C257T:p.A86V,PSRC1:NM_001350239:exon4:c.C257T:p.A86V,PSRC1:NM_001350240:exon4:c.C257T:p.A86V,PSRC1:NM_001350241:exon4:c.C257T:p.A86V,PSRC1:NM_001350242:exon4:c.C257T:p.A86V,PSRC1:NM_001363309:exon4:c.C257T:p.A86V,PSRC1:NM_032636:exon4:c.C257T:p.A86V	.	434	1063	23	2	0	27	0.0125406	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.133	.	0.0018	0.00159744	0.0033	0.0007	0.0009	0	0.0023	0.0029	0.0023	0.0104	0.0030271	468	154602	rs116496512	0.0032	0.0032	0.0029	0.0034	0.0132	0.0031	0.0031	0.0108	0.0099	0.0007	0.0014	0.0035	0	0.0022	0.0132	0.0030	0.0029	0.0096	0.0022	0.0022	0.0021	0.0023	0.0064	0.0020	0.0019	0.0046	0.0040	0.0004	0.0011	0.0014	0.0043	0	0.0024	0.0171	0.0031	0.0028	0.0064	0.006	0.63226	D	0.0	0.92824	D	0.01	0.15535	B	0.027	0.21085	B	0.027528	0.25742	N	0.397080	1	0.08975	N	2.075	0.57047	M	0.18	0.60361	T	-2.26	0.50502	N	0.229	0.28498	-1.0019	0.29372	T	0.080	0.31586	T	10	0.0059845746	0.00134	T	.	.	.	0.133	0.36157	.	.	0.650309897564	0.64740	0.2293252498829944	0.22847	0.20603035663	0.23027	0.357421278954	0.19009	T	0.066274	0.39161	T	-0.361159	0.04065	T	-0.283595	0.46435	T	0.0356868979356617	0.02925	T	0.675332	0.28377	T	0.15835074	0.35630	0.1507517	0.35539	0.15835074	0.35630	0.1507517	0.35539	-7.069	0.54537	T	.	.	0.139	0.30370	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	2.896661	0.38380	20.7	0.99884311473574006	0.95970	0.20971	0.21235	N	AEFDBHI	0.297057	0.40674	N	-0.540945000539414	0.20769	1.097295	-0.513461371108263	0.21788	1.180281	0.999999834253446	0.74766	0.72623	0.87236	0	0.627608	0.54475	0	0.594344	0.31042	0	0.605231	0.38476	0	.	.	6.03	5.12	0.69459	2.337000	0.43605	6.645000	0.56196	0.676000	0.76740	0.060000	0.21767	0.998000	0.33993	0.447000	0.27828	0.0826:0.0:0.9174:0.0	11.417	0.49198	650	0.62973	.;G2 and S phase-expressed protein 1, N-terminal;G2 and S phase-expressed protein 1, N-terminal;G2 and S phase-expressed protein 1, N-terminal;G2 and S phase-expressed protein 1, N-terminal;G2 and S phase-expressed protein 1, N-terminal;G2 and S phase-expressed protein 1, N-terminal;G2 and S phase-expressed protein 1, N-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.004532	0.000000	0.006793	0.002924	0.000000	0.008621	0.003049	0.003788	0.08333	757.83	34	chr1	109281881	.	G	A	757.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.933;DP=241;ExcessHet=0;FS=6.652;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.48;ReadPosRankSum=1.71;SOR=0.98	GT:AD:DP:GQ:PL	0/1:36,30:66:99:768,0,1078	5	0	1	0
chr1	109367478	109367478	T	C	exonic	SORT1	.	nonsynonymous SNV	SORT1:NM_002959:exon3:c.A370G:p.I124V	.	428	1080	12	2	0	16	0.00735294	.	.	.	2809059	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.020	.	0.0043	0.00219649	0.0031	0.0009	0.0027	0	0	0.0043	0.0077	0.0025	0.0030142	466	154602	rs61797119	0.0038	0.0040	0.0038	0.0039	0.0252	0.0038	0.0037	0.0218	0.0206	0.0010	0.0032	0.0167	0	0.0006	0.0252	0.0039	0.0049	0.0021	0.0033	0.0034	0.0035	0.0031	0.0065	0.0031	0.0030	0.0055	0.0051	0.0011	0	0.0065	0.0184	0	0.0007	0.0306	0.0039	0.0052	0.0010	0.156	0.24090	T	0.16	0.31427	T	0.242	0.30930	B	0.071	0.27960	B	0.000073	0.52346	D	0.128203	0.994734	0.81001	D	1.32	0.33002	L	1.14	0.38397	T	-0.65	0.18877	N	0.144	0.14480	-1.0891	0.05684	T	0.030	0.12717	T	10	0.010013223	0.00224	T	.	.	.	0.020	0.03691	.	.	0.441323511866	0.43749	0.4379122996076935	0.43708	1.75258816871	0.91011	0.548451066017	0.45639	T	0.180169	0.53142	T	-0.494548	0.00613	T	-0.483168	0.24111	T	0.00511788713177906	0.00055	T	0.808919	0.45897	T	0.09460486	0.22247	0.056598093	0.10141	0.09460486	0.22246	0.056598093	0.10140	-5.427	0.41178	T	.	.	0.142	0.31304	B	.	.	2.412754	0.31014	18.61	0.99502179040847538	0.68089	0.75384	0.36907	D	AEFBI	0.200022	0.32678	N	-0.152309713924512	0.35136	2.014404	-0.0114272979051385	0.39198	2.320491	0.999592207771268	0.40745	0.706548	0.73137	0	0.588066	0.40923	0	0.724815	0.87919	0	0.579976	0.35079	0	.	.	5.41	4.29	0.50359	2.432000	0.44442	6.202000	0.54905	0.658000	0.54486	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0919:0.0:0.9081	8.027	0.29605	809	0.43032	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.021652	0.040404	0.019022	0.055556	0.000000	0.017241	0.000000	0.003788	0.08333	822.83	34	chr1	109367478	.	T	C	822.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.11;DP=261;ExcessHet=0;FS=5.046;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.66;ReadPosRankSum=-1.774;SOR=1.336	GT:AD:DP:GQ:PL	0/1:31,34:65:99:833,0,690	5	0	1	0
chr1	113590590	113590590	G	C	exonic	MAGI3	.	nonsynonymous SNV	MAGI3:NM_001142782:exon5:c.G870C:p.E290D,MAGI3:NM_152900:exon5:c.G870C:p.E290D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.122	0.00487564636394	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0.0045	0.0002	0.0002	0.0002	0.0002	0.0002	0.0002	0.0002	0.0002	2.242e-05	0	5.08e-05	0	0	0.0002	0.0002	7.081e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.03085	T	1.0	0.04079	T	0.069	0.23796	B	0.051	0.25434	B	0.000007	0.62929	D	0.142947	0.643051	0.32894	D	1.54	0.38927	L	2.69	0.14783	T	1.32	0.01107	N	0.162	0.19995	-1.0079	0.27572	T	0.007	0.02399	T	10	0.03753224	0.02113	T	0.004876	0.12224	T	0.122	0.33800	0.268	0.21576	0.143184338766	0.13958	0.2702843826030742	0.26941	0.165123761365	0.18624	0.563049614429	0.47698	T	0.039485	0.25206	T	-0.238336	0.15562	T	-0.580129	0.14534	T	0.164513646206508	0.18199	T	0.848015	0.52922	T	0.07584618	0.17116	0.059709318	0.11252	0.07584618	0.17115	0.059709318	0.11251	-8.114	0.61845	D	.	.	0.077	0.06205	B	.;.;.;.	.;.;.;.	2.279428	0.29141	18.03	0.061631012715648595	0.00020	0.49120	0.28361	N	AEFDI	0.108624	0.21602	N	-0.944723580309123	0.09811	0.4660299	-0.857016727595564	0.13119	0.6788146	4.96757964133831E-4	0.07150	0.638212	0.43195	0	0.573888	0.26702	0	0.653264	0.51672	0	0.655142	0.61905	0	.	.	5.9	-0.268	0.12295	-0.048000	0.11898	1.843000	0.29202	-0.796000	0.03208	0.834000	0.30193	1.000000	0.68203	0.976000	0.56436	0.5848:0.0:0.4152:0.0	11.346	0.48798	538	0.73119	.;Guanylate kinase/L-type calcium channel beta subunit;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	157.05	41	chr1	113590590	.	G	C	157.05	.	AC=1;AF=0.5;AN=2;BaseQRankSum=-1.69;DP=225;ExcessHet=0;FS=81.711;MLEAC=2;MLEAF=1;MQ=60;MQRankSum=0;QD=2.57;ReadPosRankSum=-0.086;SOR=5.992	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:42,19:61:99:0|1:113590590_G_C:161,0,1093:113590590	0	0	1	5
chr1	114732648	114732648	C	G	exonic	CSDE1	.	nonsynonymous SNV	CSDE1:NM_001242893:exon8:c.G913C:p.V305L,CSDE1:NM_001242892:exon9:c.G1006C:p.V336L,CSDE1:NM_007158:exon9:c.G913C:p.V305L,CSDE1:NM_001007553:exon10:c.G1006C:p.V336L,CSDE1:NM_001130523:exon10:c.G1051C:p.V351L,CSDE1:NM_001242891:exon11:c.G1144C:p.V382L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.141	0.00302580783907	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.572e-05	0.0005	3.966e-05	3.175e-05	4.338e-05	2.774e-05	2.512e-05	3.36e-05	2.971e-05	0	0	3.834e-05	0	0	0	4.338e-05	3.322e-05	1.161e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	1.0	0.01155	T	0.019	0.17989	B	0.007	0.12992	B	0.000054	0.53742	D	0.166893	0.995854	0.46032	D	-1.005	0.01165	N	.	.	.	1.46	0.00775	N	0.49	0.52651	-0.9514	0.40730	T	0.015	0.06186	T	9	0.1688331	0.31457	T	0.003026	0.06487	T	0.141	0.37795	0.283	0.23961	0.438345833192	0.43453	0.47999988597583465	0.47919	0.664778676347	0.59103	0.696112155914	0.66584	T	0.116941	0.43665	T	-0.00863497	0.50457	T	-0.25018	0.49799	T	0.698000967502594	0.40624	D	0.917108	0.76468	D	0.059146494	0.11985	0.09358893	0.22112	0.059146494	0.11985	0.09358893	0.22111	-6.727	0.59015	T	.	.	0.240	0.47513	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	4.228914	0.64023	24.7	0.79526294004721843	0.12782	0.91046	0.52754	D	AEFBCI	0.679294	0.64337	D	-0.4128236221243	0.25018	1.355104	-0.0758002100467609	0.36392	2.117378	0.809094888011598	0.24323	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.89	5.89	0.94758	4.456000	0.59820	7.732000	0.67763	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.980000	0.58198	0.1424:0.8576:0.0:0.0	15.011	0.71206	854	0.34840	.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4	589.38	89	chr1	114732648	.	C	G	589.38	.	AC=4;AF=0.4;AN=10;BaseQRankSum=-1.279;DP=588;ExcessHet=3.1439;FS=460.937;MLEAC=4;MLEAF=0.4;MQ=60;MQRankSum=0;QD=1.71;ReadPosRankSum=2.38;SOR=10.1	GT:AD:DP:GQ:PL	0/1:59,28:87:99:206,0,1022	1	0	4	1
chr1	116579663	116579663	-	TCCTCC	exonic	IGSF3	.	nonframeshift insertion	IGSF3:NM_001007237:exon10:c.3062_3063insGGAGGA:p.D1020_D1021insEE,IGSF3:NM_001542:exon11:c.3122_3123insGGAGGA:p.D1040_D1041insEE	.	129	864	1	0	528	529	0.000578369	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0010	0.0005	0.0006	0	0	0.0013	0.0013	0.0015	0.0010284	159	154602	rs576658823	0.0022	0.0027	0.0023	0.0021	0.0025	0.0021	0.0021	0.0024	0.0024	0.0006	0.0006	0.0024	0.0002	0.0003	0.0005	0.0025	0.0024	0.0014	0.0017	0.0017	0.0019	0.0015	0.0030	0.0015	0.0014	0.0027	0.0026	0.0005	0	0.0005	0.0026	0.0004	0	0	0.0030	0.0019	0.0006	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	4997.75	42	chr1	116579663	.	G	GTCCTCC	4997.75	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.359;DP=369;ExcessHet=2.3007;FS=1.639;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=21;ReadPosRankSum=3.44;SOR=0.577	GT:AD:DP:GQ:PL	0/1:33,34:67:99:1260,0,1243	5	0	1	0
chr1	119514359	119514359	G	A	exonic	HSD3B1	.	nonsynonymous SNV	HSD3B1:NM_000862:exon4:c.G836A:p.R279H,HSD3B1:NM_001328615:exon4:c.G836A:p.R279H	.	0	1500	1	0	21	22	0.000333222	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.175	0.0138853439636	0.0008	0.000798722	0.0015	0.0003	0.0014	0	0.0002	0.0014	0.0022	0.0039	0.0013325	206	154602	rs144711345	0.0009	0.0009	0.0008	0.0010	0.0047	0.0009	0.0009	0.0033	0.0032	0.0002	0.0015	0.0028	0	5.616e-05	0.0047	0.0007	0.0014	0.0037	0.0011	0.0011	0.0010	0.0012	0.0035	0.0009	0.0009	0.0022	0.0018	0.0006	0	0.0025	0.0035	0	9.425e-05	0.0068	0.0010	0.0019	0.0035	0.497	0.07821	T	0.296	0.20615	T	0.002	0.09854	B	0.004	0.10090	B	0.570158	0.11246	N	0.826084	0.999999	0.08975	N	1.805	0.47535	L	-2.38	0.88298	D	-1.05	0.27463	N	0.05	0.02179	-0.7049	0.60203	T	0.331	0.69860	T	10	0.00701949	0.00160	T	0.013885	0.33612	T	0.175	0.44197	.	.	0.575045364607	0.57173	0.2424975473099069	0.24163	0.0294092290554	0.03026	0.184644564986	0.00144	T	0.460938	0.79791	T	-0.49525	0.00608	T	-0.484689	0.23949	T	0.00835563811659382	0.00101	T	0.189081	0.01998	T	0.033841386	0.03683	0.027723305	0.00946	0.033841386	0.03683	0.027723305	0.00946	-2.785	0.08046	T	.	.	0.079	0.07272	B	.;.	.;.	0.070102	0.04788	1.401	0.38819267600058671	0.02641	0.06738	0.12760	N	AEFBI	0.108253	0.21541	N	-1.14973415321105	0.05784	0.2645855	-1.24184497062397	0.05253	0.2498497	1.32551340192565E-5	0.02871	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	3.26	-1.12	0.09306	0.555000	0.23129	-3.092000	0.03068	-0.549000	0.04906	0.000000	0.06391	0.000000	0.08366	0.194000	0.21720	0.3148:0.1618:0.5234:0.0	4.922	0.13225	631	0.64944	3-beta hydroxysteroid dehydrogenase/isomerase;3-beta hydroxysteroid dehydrogenase/isomerase	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.004228	0.005051	0.004076	0.000000	0.000000	0.000000	0.018293	0.003788	0.08333	2504.83	35	chr1	119514359	.	G	A	2504.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.257;DP=368;ExcessHet=0;FS=2.56;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.47;ReadPosRankSum=-0.023;SOR=0.53	GT:AD:DP:GQ:PL	0/1:86,100:186:99:2515,0,2209	5	0	1	0
chr1	119844402	119844402	C	T	exonic	NBPF7	.	nonsynonymous SNV	NBPF7:NM_001047980:exon1:c.G134A:p.R45H	.	434	1087	1	0	0	1	0.00045977	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0006	0.0002	0.0008	0.0002	0	0.0008	0	0	0.0004981	77	154602	rs200625495	0.0004	0.0004	0.0004	0.0004	0.0027	0.0004	0.0003	0.0017	0.0014	9.13e-05	0.0014	0.0086	0.0002	8.131e-05	0.0027	0.0002	0.0007	4.654e-05	0.0005	0.0005	0.0005	0.0005	0.0008	0.0004	0.0004	0.0005	0.0004	0.0002	0	0.0008	0.0081	0	0	0.0032	0.0003	0.0019	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002220	0.000000	0.005479	0.000000	0.000000	0.000000	0.000000	0.000000	0.08333	1157.83	39	chr1	119844402	.	C	T	1157.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.02;DP=275;ExcessHet=0;FS=1.617;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.58;ReadPosRankSum=0.311;SOR=0.651	GT:AD:DP:GQ:PL	0/1:52,48:100:99:1168,0,1193	5	0	1	0
chr1	120449255	120449255	A	G	exonic	NBPF8	.	nonsynonymous SNV	NBPF8:NM_001037501:exon9:c.A841G:p.S281G	.	415	1104	3	0	0	3	0.00135685	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs782435187	6.094e-05	0.0002	5.67e-05	6.515e-05	0.0007	5.008e-05	4.602e-05	0.0002	9.576e-05	0	4.488e-05	0	0.0002	3.749e-05	0.0007	5.261e-05	0	0.0002	0.0002	0.0003	0.0001	0.0003	0.0012	0.0002	0.0001	0.0008	0.0006	4.838e-05	0	0.0012	0	0	0	0	0.0002	0	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	123.83	47	chr1	120449255	.	A	G	123.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.41;DP=511;ExcessHet=0;FS=0.75;MLEAC=1;MLEAF=0.083;MQ=40.26;MQRankSum=0.391;QD=0.55;ReadPosRankSum=-2.053;SOR=0.599	GT:AD:DP:GQ:PL	0/1:197,28:225:99:134,0,4767	5	0	1	0
chr1	120452245	120452245	C	T	exonic	NBPF8	.	nonsynonymous SNV	NBPF8:NM_001037501:exon11:c.C1220T:p.P407L	.	461	1052	9	0	0	9	0.00425935	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs782202726	0.0036	0.0034	0.0038	0.0034	0.0354	0.0035	0.0035	0.0339	0.0333	0.0087	0.0354	0	0.0002	0.0079	0.0034	0.0017	0.0029	0.0049	0.0063	0.0069	0.0060	0.0066	0.0205	0.0060	0.0058	0.0185	0.0178	0.0104	0	0.0205	0	0.0010	0.0081	0.0034	0.0016	0.0047	0.0064	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	153.83	19	chr1	120452245	.	C	T	153.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.68;DP=146;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=34.21;MQRankSum=-0.257;QD=10.26;ReadPosRankSum=0.286;SOR=1.23	GT:AD:DP:GQ:PL	0/1:9,6:15:99:164,0,249	5	0	1	0
chr1	120890093	120890093	G	T	exonic	PPIAL4A	.	nonsynonymous SNV	PPIAL4A:NM_001143883:exon1:c.G273T:p.K91N	.	431	1078	13	0	0	13	0.00599355	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1176793547	0.0006	0.0006	0.0005	0.0008	0.0072	0.0006	0.0006	0.0067	0.0065	7.797e-05	4.657e-05	0	0	0	0.0039	0.0002	0.0008	0.0072	0.0005	0.0005	0.0005	0.0005	0.0097	0.0004	0.0004	0.0073	0.0065	0	0	0	0	0	0	0.0037	0.0004	0.0011	0.0097	.	.	.	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.204	0.22614	.	.	.	.	.	.	.	0.031648606	0.01303	T	.	.	.	.	.	.	.	0.0762999501168	0.06990	0.2611384602325437	0.26026	.	.	0.585979402065	0.50927	T	0.024531	0.18515	T	-0.15127	0.28113	T	-0.455065	0.27139	T	.	.	.	0.825817	0.48860	T	0.09435018	0.22180	0.22018726	0.46785	0.09435018	0.22180	0.22018726	0.46784	-6.49	0.50209	T	.	.	0.299	0.52921	B	.	.	2.347029	0.30085	18.33	0.75911070113055878	0.11259	0.24721	0.22481	N	AEFI	0.071229	0.14172	N	.	.	.	.	.	.	1.22850741234168E-6	0.01202	0.074636	0.01641	0	0.084543	0.02171	0	0.063197	0.01477	0	0.057018	0.00518	0	0.119718	0.24596	0.386	-0.772	0.10444	3.709000	0.54582	0.189000	0.15722	0.394000	0.20511	1.000000	0.71638	0.576000	0.25597	0.493000	0.28859	0.3197:0.0:0.6803:0.0	4.495	0.11245	964	0.07719	Cyclophilin-type peptidyl-prolyl cis-trans isomerase domain|Cyclophilin-type peptidyl-prolyl cis-trans isomerase domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1106.83	38	chr1	120890093	.	G	T	1106.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-3.127;DP=301;ExcessHet=0;FS=0.744;MLEAC=1;MLEAF=0.083;MQ=57.2;MQRankSum=0.662;QD=10.85;ReadPosRankSum=-0.08;SOR=0.567	GT:AD:DP:GQ:PL	0/1:54,48:102:99:1117,0,1497	5	0	1	0
chr1	149075685	149075685	C	A	exonic	NBPF9	.	nonsynonymous SNV	NBPF9:NM_001037675:exon7:c.G958T:p.G320C,NBPF9:NM_001277444:exon7:c.G958T:p.G320C	.	409	361	749	3	0	755	0.511171	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.049	.	.	.	5.909e-05	0	0	0	0	0	0	0.0004	3.84e-05	1	26028	rs1385733241	9.61e-06	5.749e-05	1.23e-05	6.897e-06	2.519e-05	5.58e-06	4.36e-06	4.56e-06	3.33e-06	0	0	3.836e-05	2.519e-05	0	0	9.021e-06	3.323e-05	0	1.317e-05	3.942e-05	2.575e-05	0	2.946e-05	2.19e-06	8.2e-07	4.89e-06	1.83e-06	0	0	0	0	0	0	0	2.946e-05	0	0	.	.	.	0.365	0.36765	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.196	0.21580	.	.	.	.	.	.	.	0.12383446	0.23512	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.811819	0.46320	T	.	.	.	.	.	.	.	.	-4.7	0.44930	T	.	.	0.071	0.39220	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	0.560151	0.09286	6.069	.	.	.	.	.	.	0.017031	0.00420	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.056000	0.11744	0.032000	0.13746	-1.437000	0.01108	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	.	.	.	889	0.27310	.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	8202.55	266	chr1	149075685	.	C	A	8202.55	.	AC=6;AF=0.5;AN=12;BaseQRankSum=1.61;DP=2144;ExcessHet=11.5949;FS=8.173;MLEAC=6;MLEAF=0.5;MQ=46.31;MQRankSum=-4.83;QD=3.87;ReadPosRankSum=-0.703;SOR=1.392	GT:AD:DP:GQ:PL	0/1:260,85:345:99:1466,0,6722	0	0	6	0
chr1	151767199	151767199	G	A	exonic	OAZ3	.	unknown	UNKNOWN	.	426	1093	3	0	0	3	0.00137049	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000199681	0.0002	0	0.0005	0	0	0.0002	0	6.056e-05	0.0001423	22	154602	rs537747674	0.0002	0.0002	0.0002	0.0002	0.0017	0.0002	0.0002	0.0009	0.0007	0	0.0002	0.0007	0	0	0.0017	0.0002	0.0002	2.319e-05	9.85e-05	9.843e-05	7.71e-05	0.0001	0.0002	6.003e-05	4.877e-05	7.909e-05	5.994e-05	0	0	0.0002	0.0006	0	0	0	0.0001	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002014	0.000000	0.001359	0.002924	0.000000	0.000000	0.003049	0.003788	0.08333	756.83	39	chr1	151767199	.	G	A	756.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.641;DP=237;ExcessHet=0;FS=1.145;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=15.45;ReadPosRankSum=-0.144;SOR=1.017	GT:AD:DP:GQ:PL	0/1:19,30:49:99:767,0,481	5	0	1	0
chr1	152214827	152214827	A	0	exonic	HRNR	.	.	.	.	441	898	8	0	175	183	0.00443459	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4167	285.01	227	chr1	152214827	.	A	*	285.01	.	AC=5;AF=0.417;AN=12;BaseQRankSum=6;DP=2005;ExcessHet=11.5949;FS=42.868;MLEAC=5;MLEAF=0.417;MQ=27.08;MQRankSum=1.49;QD=0.14;ReadPosRankSum=-4.79;SOR=9.915	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:297,37:334:99:0|1:152214821_T_A:572,0,12262:152214821	1	0	5	0
chr1	152214830	152214830	C	0	exonic	HRNR	.	.	.	.	441	924	156	0	1	157	0.0778443	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4167	237.97	217	chr1	152214830	.	C	*	237.97	.	AC=5;AF=0.417;AN=12;BaseQRankSum=-0.353;DP=1996;ExcessHet=11.5949;FS=43.009;MLEAC=5;MLEAF=0.417;MQ=26.78;MQRankSum=1.21;QD=0.12;ReadPosRankSum=-4.939;SOR=9.909	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:297,37:334:99:0|1:152214821_T_A:572,0,12262:152214821	1	0	5	0
chr1	152218397	152218397	G	A	exonic	HRNR	.	stopgain	HRNR:NM_001009931:exon3:c.C3232T:p.Q1078X	.	429	1071	21	1	0	23	0.0106236	.	.	.	2809283	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	.	.	0.0033	0.00159744	0.0036	0.0005	0.0007	0	0.0005	0.0047	0.0033	0.0060	0.0014984	39	26028	rs141950802	0.0034	0.0034	0.0031	0.0037	0.0094	0.0033	0.0033	0.0074	0.0067	0.0004	0.0008	0.0036	0	0.0014	0.0094	0.0035	0.0032	0.0071	0.0026	0.0026	0.0026	0.0026	0.0054	0.0024	0.0023	0.0039	0.0038	0.0004	0	0.0018	0.0029	0	0.0012	0.0034	0.0043	0.0024	0.0054	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.067	0.03956	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.06482	0.42151	T	0.137282	0.79368	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerant	High	5.101786	0.85249	28.5	0.99385951462662214	0.62113	0.08462	0.14388	N	AEFBI	0.044918	0.07286	N	-0.0410974056872576	0.40002	2.368183	-0.404991771498519	0.24850	1.363145	1.5712663776471E-5	0.02871	0.554377	0.28877	0	0.588066	0.40923	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.68	1.55	0.22356	-0.097000	0.11010	.	.	0.542000	0.25261	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.1134:0.0:0.5093:0.3772	4.480	0.11177	569	0.70546	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.005814	0.005051	0.001359	0.008197	0.000000	0.000000	0.015244	0.007576	0.08333	3431.83	110	chr1	152218397	.	G	A	3431.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.354;DP=1013;ExcessHet=0;FS=2.571;MLEAC=1;MLEAF=0.083;MQ=42.51;MQRankSum=-2.489;QD=7.09;ReadPosRankSum=-0.65;SOR=0.669	GT:AD:DP:GQ:PL	0/1:318,166:484:99:3442,0,7545	5	0	1	0
chr1	153458940	153458940	T	C	exonic	S100A7	.	nonsynonymous SNV	S100A7:NM_002963:exon2:c.A74G:p.D25G	.	430	1056	36	0	0	36	0.0167598	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.122	0.00104842260736	.	.	5.766e-05	9.61e-05	0	0	0	5.994e-05	0	0.0001	3.84e-05	1	26028	rs200222470	9.523e-05	0.0007	9.948e-05	9.094e-05	0.0001	8.214e-05	7.729e-05	9.616e-05	8.962e-05	0	2.237e-05	0	0	0	0	0.0001	4.978e-05	0.0001	6.568e-05	0.0002	7.711e-05	5.373e-05	0.0001	3.515e-05	2.615e-05	4.766e-05	3.34e-05	7.216e-05	0	0	0	0	0	0	0.0001	0	0	0.547	0.06648	T	0.761	0.04619	T	0.014	0.16867	B	0.005	0.11217	B	.	.	.	.	1	0.08975	N	1.82	0.47800	L	4.09	0.02973	T	-2.82	0.59545	D	0.445	0.48319	-0.9359	0.43257	T	0.001	0.00467	T	9	0.12721223	0.24191	T	0.001048	0.01191	T	0.122	0.33800	.	.	0.565115492228	0.56175	0.307548140851132	0.30667	0.0456341534263	0.04953	0.420483767986	0.27902	T	0.047801	0.27830	T	-0.197443	0.21174	T	-0.521389	0.20154	T	0.041849633338652	0.04028	T	0.478952	0.14445	T	0.24368249	0.47310	0.21830884	0.46528	0.24368249	0.47310	0.21830884	0.46527	-5.071	0.37600	T	.	.	0.286	0.51857	B	.;.	.;.	0.942744	0.13185	9.686	0.41886843889963349	0.03051	0.04561	0.10203	N	AEFGBI	0.044703	0.07225	N	-1.08958457410564	0.06833	0.3157342	-1.07134982475866	0.08268	0.4057803	0.00148203934282373	0.08576	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	1.89	1.89	0.24700	2.005000	0.40484	1.125000	0.24277	0.573000	0.29008	0.010000	0.18352	0.031000	0.21272	0.004000	0.06068	0.0:0.0:0.0:1.0	5.858	0.17980	840	0.37365	S100/CaBP-9k-type, calcium binding, subdomain|S100/CaBP-9k-type, calcium binding, subdomain|S-100;S100/CaBP-9k-type, calcium binding, subdomain|S100/CaBP-9k-type, calcium binding, subdomain|S-100	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	266.83	40	chr1	153458940	.	T	C	266.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.11;DP=543;ExcessHet=0;FS=10.38;MLEAC=1;MLEAF=0.083;MQ=59.25;MQRankSum=-12.5;QD=0.97;ReadPosRankSum=-2.517;SOR=1.582	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:249,25:274:99:0|1:153458940_T_C:277,0,10263:153458940	5	0	1	0
chr1	153458950	153458950	T	C	exonic	S100A7	.	nonsynonymous SNV	S100A7:NM_002963:exon2:c.A64G:p.R22G	.	432	1060	30	0	0	30	0.0139535	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.033	0.000901198766048	.	.	6.589e-05	9.61e-05	0	0	0	7.492e-05	0	0.0001	0.0001537	4	26028	rs767181668	0.0001	0.0008	0.0001	0.0001	0.0002	0.0001	0.0001	0.0001	0.0001	0	8.951e-05	7.701e-05	0.0001	1.872e-05	0.0002	0.0001	8.299e-05	0.0002	8.535e-05	0.0002	8.995e-05	8.055e-05	0.0001	4.954e-05	3.96e-05	4.765e-05	3.339e-05	7.214e-05	0	0.0001	0	0	0	0	0.0001	0.0005	0	0.799	0.03125	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	-0.935	0.01286	N	3.47	0.05188	T	1.37	0.00867	N	0.127	0.12055	-0.9194	0.45635	T	0.002	0.00615	T	9	0.037575006	0.02121	T	9.01E-4	0.00844	T	0.033	0.08068	.	.	0.189391138174	0.18552	0.15141194554062642	0.15063	0.0424292274101	0.04572	0.248501554132	0.03612	T	0.020751	0.16281	T	-0.370412	0.03573	T	-0.769848	0.02773	T	0.0242991661709093	0.01183	T	0.325967	0.06723	T	0.50602496	0.67447	0.18495949	0.41580	0.50602496	0.67448	0.18495949	0.41579	-0.779	0.00785	T	.	.	0.048	0.00092	B	.;.	.;.	-0.868767	0.00979	0.039	0.59949935095651319	0.06346	0.00050	0.00389	N	AEFGBI	0.017255	0.00440	N	-1.41683731003344	0.02490	0.1100542	-1.43723077082879	0.02888	0.1336867	9.90027875794148E-4	0.08091	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	1.89	-2.49	0.06034	-0.898000	0.04213	-1.288000	0.05808	-0.488000	0.05050	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.3898:0.0:0.6102	5.685	0.17069	840	0.37365	S100/CaBP-9k-type, calcium binding, subdomain|S100/CaBP-9k-type, calcium binding, subdomain|S-100;S100/CaBP-9k-type, calcium binding, subdomain|S100/CaBP-9k-type, calcium binding, subdomain|S-100	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	232.83	40	chr1	153458950	.	T	C	232.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.143;DP=546;ExcessHet=0;FS=10.659;MLEAC=1;MLEAF=0.083;MQ=59.26;MQRankSum=-12.86;QD=0.84;ReadPosRankSum=-3.976;SOR=1.737	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:253,24:277:99:0|1:153458940_T_C:243,0,10171:153458940	5	0	1	0
chr1	159304153	159304153	G	A	exonic	FCER1A	.	nonsynonymous SNV	FCER1A:NM_002001:exon4:c.G302A:p.S101N	.	431	1070	19	2	0	23	0.0106334	.	.	.	706768	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.162	.	0.0008	0.0181709	0.0063	0.0002	0.0003	0.0714	0.0005	0.0010	0.0055	0.0040	0.0059055	913	154602	rs2298805	0.0034	0.0034	0.0034	0.0034	0.0850	0.0033	0.0033	0.0826	0.0816	0.0001	0.0006	0.0024	0.0850	0.0013	0.0040	0.0006	0.0054	0.0046	0.0036	0.0036	0.0032	0.0041	0.0773	0.0034	0.0033	0.0711	0.0686	0.0002	0	0.0006	0.0035	0.0773	0.0022	0.0068	0.0008	0.0066	0.0064	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	.	.	.	.	1	0.08975	P	3.995	0.96723	H	2.12	0.19726	T	-2.79	0.59059	D	0.483	0.51761	-0.5511	0.66745	T	0.159	0.49212	T	8	0.0032084882	0.00054	T	.	.	.	0.162	0.41843	.	.	0.557365556891	0.55396	0.6099697937867461	0.60928	0.197323763495	0.22113	0.436360627413	0.30080	T	0.735165	0.92619	D	-0.473276	0.00811	T	-0.365752	0.37384	T	0.148157181154454	0.16956	T	0.449655	0.12671	T	0.5811307	0.71670	0.4919939	0.70614	0.5811307	0.71671	0.4919939	0.70614	-10.147	0.74787	D	.	.	0.694	0.78211	P	.;.	.;.	3.454008	0.48109	22.6	0.98360627124908862	0.40638	0.85134	0.44242	D	AEFI	0.425901	0.49048	N	0.443070018720451	0.63811	4.622162	0.197259700354554	0.49697	3.169788	0.00160229383295625	0.08694	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.7	3.78	0.42629	2.577000	0.45707	9.805000	0.81716	0.676000	0.76740	0.730000	0.28923	1.000000	0.68203	0.005000	0.06747	0.0:0.1909:0.8091:0.0	10.812	0.45754	785	0.46916	Immunoglobulin-like domain|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin-like domain|Immunoglobulin subtype	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.002518	0.000000	0.001359	0.002924	0.000000	0.017241	0.003049	0.000000	0.08333	847.83	33	chr1	159304153	.	G	A	847.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.302;DP=242;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.29;ReadPosRankSum=0.624;SOR=0.741	GT:AD:DP:GQ:PL	0/1:34,35:69:99:858,0,815	5	0	1	0
chr1	160094051	160094051	G	A	exonic	IGSF8	.	nonsynonymous SNV	IGSF8:NM_001320247:exon3:c.C563T:p.A188V,IGSF8:NM_052868:exon3:c.C563T:p.A188V,IGSF8:NM_001206665:exon4:c.C563T:p.A188V	.	415	1106	1	0	0	1	0.000451875	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.272	0.00761742822142	.	.	1.651e-05	9.634e-05	0	0	0	1.503e-05	0	0	1.29e-05	2	154602	rs767443984	1.574e-05	1.71e-05	1.362e-05	1.788e-05	8.961e-05	1.048e-05	8.75e-06	2.995e-05	2.038e-05	8.961e-05	0	0	0	0	0	8.993e-06	6.623e-05	6.956e-05	2.627e-05	2.627e-05	2.568e-05	2.689e-05	9.645e-05	8.14e-06	5.14e-06	3.248e-05	1.914e-05	9.645e-05	0	0	0	0	0	0	0	0	0	0.171	0.22746	T	0.0	0.92824	D	1.0	0.90584	D	0.977	0.73820	D	0.000005	0.62929	D	0.000000	1	0.81001	D	0.805	0.20218	L	2.06	0.20523	T	0.16	0.05217	N	0.226	0.25499	-1.0938	0.04929	T	0.034	0.14509	T	10	0.16236228	0.30431	T	0.007617	0.20219	T	0.272	0.58758	0.416	0.45544	0.316494231283	0.31262	0.49754623576622437	0.49675	0.615720585361	0.56053	0.591475963593	0.51702	T	0.039835	0.25325	T	-0.0923752	0.37684	T	-0.370467	0.36834	T	0.632005453109741	0.37701	D	0.814619	0.46840	T	0.065367885	0.13964	0.095473014	0.22645	0.065367885	0.13964	0.095473014	0.22644	-4.984	0.36666	T	.	.	0.169	0.37312	B	.;.;.;.	.;.;.;.	4.037497	0.59751	24.1	0.99931295368527584	0.99387	0.94308	0.60753	D	AEFDGBI	0.611837	0.60014	D	0.220615030587148	0.52199	3.395598	0.23088606773756	0.51570	3.338331	0.999999999984941	0.74766	0.719381	0.83141	0	0.723133	0.82719	0	0.643519	0.47002	0	0.655142	0.61905	0	.	.	3.88	3.88	0.43959	4.393000	0.59427	9.910000	0.82419	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.842000	0.39752	0.0:0.0:1.0:0.0	15.132	0.72211	754	0.51307	Immunoglobulin subtype;Immunoglobulin subtype;Immunoglobulin subtype;Immunoglobulin subtype	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.003788	0.08333	1363.83	35	chr1	160094051	.	G	A	1363.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.18;DP=330;ExcessHet=0;FS=0.655;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=9.15;ReadPosRankSum=-0.108;SOR=0.803	GT:AD:DP:GQ:PL	0/1:94,55:149:99:1374,0,2514	5	0	1	0
chr1	160685160	160685160	C	T	exonic	CD48	.	nonsynonymous SNV	CD48:NM_001256030:exon2:c.G112A:p.G38S,CD48:NM_001778:exon2:c.G112A:p.G38S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.520	0.144337937614	.	.	.	.	.	.	.	.	.	.	.	.	.	rs933227640	3.359e-05	3.42e-05	3.68e-05	3.034e-05	7.575e-05	2.571e-05	2.317e-05	2.717e-05	2.392e-05	0	0	0	7.575e-05	0	0	3.605e-05	1.659e-05	5.802e-05	1.315e-05	1.313e-05	2.571e-05	0	2.415e-05	2.18e-06	8.2e-07	.	.	2.415e-05	0	0	0	0	0	0	1.47e-05	0	0	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000038	0.55875	D	0.160788	0.614454	0.32650	D	2.98	0.85499	M	-1.45	0.80899	T	-4.79	0.85323	D	0.595	0.61426	0.109	0.84340	D	0.560	0.83970	D	10	0.89006305	0.88345	D	0.144338	0.82661	D	0.520	0.79583	.	.	0.897545324515	0.89653	0.7138897104841061	0.71331	0.275022774377	0.29986	0.369179010391	0.20714	T	0.839743	0.96252	D	-0.0447717	0.45238	T	-0.0763861	0.65167	T	0.97918438911438	0.72702	D	0.667533	0.27667	T	0.9301858	0.94255	0.7680527	0.86302	0.9301858	0.94256	0.7680527	0.86303	-8.715	0.65844	D	.	.	0.257	0.52360	B	.;.;.	.;.;.	2.933932	0.38987	20.9	0.99806983235987856	0.89085	0.58404	0.30633	D	AEFDGBCI	0.224411	0.34864	N	0.366127031027256	0.59596	4.140312	0.215708111286482	0.50719	3.260992	0.99999998653387	0.74766	0.722319	0.85440	0	0.698795	0.70079	0	0.602189	0.34648	0	0.542086	0.14980	0	.	.	3.6	3.6	0.40374	2.803000	0.47620	1.805000	0.28914	-0.810000	0.03076	0.711000	0.28732	0.618000	0.25802	0.000000	0.00833	0.0:1.0:0.0:0.0	11.030	0.46984	873	0.30802	Immunoglobulin V-set domain|Immunoglobulin subtype;Immunoglobulin V-set domain|Immunoglobulin subtype;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	888.83	43	chr1	160685160	.	C	T	888.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.74;DP=235;ExcessHet=0;FS=1.069;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=15.32;ReadPosRankSum=-0.117;SOR=0.461	GT:AD:DP:GQ:PL	0/1:26,32:58:99:899,0,617	5	0	1	0
chr1	167094866	167094867	AC	-	exonic	STYXL2	.	frameshift deletion	STYXL2:NM_001080426:exon2:c.17_18del:p.T7Rfs*29	.	429	1092	1	0	0	1	0.000457666	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.971e-05	0	0.0001	0	0	0.0001	0	0.0002	6.47e-05	10	154602	rs769678635	2.395e-05	2.394e-05	1.634e-05	3.165e-05	0.0002	1.739e-05	1.539e-05	0.0001	9.478e-05	0	4.48e-05	0	0	0	0	1.259e-05	4.97e-05	0.0002	6.572e-06	6.567e-06	1.285e-05	0	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	1029.79	33	chr1	167094865	.	GAC	G	1029.79	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.552;DP=225;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=20.19;ReadPosRankSum=1.38;SOR=0.748	GT:AD:DP:GQ:PL	0/1:24,27:51:99:1040,0,910	5	0	1	0
chr1	170167735	170167735	T	C	exonic	METTL11B	.	nonsynonymous SNV	METTL11B:NM_001136107:exon4:c.T830C:p.L277P	.	433	1037	50	2	0	54	0.0253759	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.620	.	0.0096	0.00379393	0.0122	0.0009	0.005	0	0.0021	0.0130	0.0112	0.0171	0.0027425	424	154602	rs144066772	0.0089	0.0085	0.0084	0.0094	0.0178	0.0088	0.0087	0.0150	0.0145	0.0015	0.0048	0.0126	2.798e-05	0.0011	0.0178	0.0093	0.0080	0.0155	0.0067	0.0067	0.0065	0.0069	0.0133	0.0064	0.0062	0.0107	0.0097	0.0015	0	0.0080	0.0130	0.0002	0.0009	0.0136	0.0102	0.0090	0.0133	0.001	0.78490	D	0.002	0.79402	D	0.999	0.77913	D	0.961	0.70482	D	0.000014	0.62929	D	0.145209	1	0.81001	D	2.92	0.84325	M	0.96	0.42888	T	-5.62	0.86758	D	0.847	0.84298	-0.4702	0.69718	T	0.241	0.60869	T	10	0.012806088	0.00274	T	.	.	.	0.620	0.85249	.	.	0.202086224978	0.19791	0.9918532488059894	0.99180	.	.	0.498373031616	0.38601	T	0.172237	0.52065	T	-0.0719823	0.41007	T	0.13615	0.79294	D	0.0186801547117924	0.00581	T	0.568143	0.20156	T	0.9848461	0.99457	0.94898534	0.98338	0.9848461	0.99457	0.94898534	0.98338	-12.908	0.88980	D	.	.	0.914	0.83719	P	.	.	4.620278	0.73354	26.0	0.99861864283003476	0.94002	0.99628	0.98136	D	AEFDBI	0.925043	0.90398	D	0.701806787569926	0.79750	7.144214	0.606312696634307	0.75399	6.30337	0.999999998258667	0.74766	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	5.56	5.56	0.83678	7.346000	0.78586	7.909000	0.73932	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.131000	0.19607	0.0:0.0:0.0:1.0	15.384	0.74403	748	0.52143	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.014286	0.000000	0.007246	0.008850	0.000000	0.000000	0.022472	0.024390	0.1667	3489.06	151	chr1	170167735	.	T	C	3489.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-1.735;DP=420;ExcessHet=0.4139;FS=0.939;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=13.12;ReadPosRankSum=-1.549;SOR=0.617	GT:AD:DP:GQ:PL	0/1:55,60:115:99:1525,0,1491	4	0	2	0
chr1	175098538	175098538	G	T	exonic	TNN	.	nonsynonymous SNV	TNN:NM_022093:exon9:c.G2062T:p.V688L	.	409	1099	11	3	0	17	0.00767494	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.330	.	0.0002	0.0129792	0.0069	9.612e-05	0.0003	0.0013	0	0.0002	0.0022	0.0487	0.0060478	935	154602	rs149504279	0.0029	0.0029	0.0016	0.0042	0.0452	0.0028	0.0028	0.0441	0.0436	0.0001	8.944e-05	0	0.0014	0	0.0024	7.824e-05	0.0033	0.0452	0.0017	0.0017	0.0011	0.0024	0.0508	0.0016	0.0015	0.0456	0.0436	7.219e-05	0	0	0	0.0015	0	0	0.0001	0	0.0508	0.175	0.22400	T	0.207	0.26969	T	0.975	0.58077	D	0.942	0.67772	D	0.000327	0.45700	D	0.199290	0.990747	0.41226	D	1.41	0.35535	L	-0.64	0.72125	T	-0.54	0.16598	N	0.537	0.56489	-0.5629	0.66293	T	0.357	0.71975	T	10	0.008049369	0.00183	T	.	.	.	0.330	0.65226	0.743	0.87486	0.862604737212	0.86127	0.31124368057556756	0.31037	0.260701197531	0.28632	0.43714928627	0.30187	T	0.003354	0.02758	T	-0.385104	0.02892	T	-0.291644	0.45600	T	0.0292466898942131	0.01874	T	0.845715	0.52486	T	0.07294253	0.16263	0.102985725	0.24697	0.07294253	0.16263	0.102985725	0.24697	-8.221	0.62566	D	.	.	0.382	0.58540	A	.	.	3.700298	0.52769	23.3	0.99735804925074412	0.83119	0.58488	0.30655	D	AEFDBI	0.187410	0.31470	N	0.0911687269453933	0.46052	2.851595	0.0926605778240921	0.44179	2.704688	0.0327117578301848	0.14068	0.554377	0.28877	0	0.563428	0.19063	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	5.15	4.17	0.48303	1.006000	0.29449	11.688000	0.94314	0.618000	0.50648	0.672000	0.28366	1.000000	0.68203	0.914000	0.44937	0.0:0.2162:0.6316:0.1522	8.431	0.31919	665	0.61472	Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.005814	0.000000	0.002717	0.004098	0.000000	0.000000	0.000000	0.015152	0.08333	2510.83	36	chr1	175098538	.	G	T	2510.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.11;DP=358;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.11;ReadPosRankSum=0.551;SOR=0.722	GT:AD:DP:GQ:PL	0/1:85,93:178:99:2521,0,2229	5	0	1	0
chr1	175160810	175160810	C	0	exonic	KIAA0040	.	.	.	.	430	141	484	211	256	1162	0.762626	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	4922.72	72	chr1	175160810	.	C	*	4922.72	.	AC=3;AF=0.25;AN=12;BaseQRankSum=-1.618;DP=357;ExcessHet=1.383;FS=6.122;MLEAC=3;MLEAF=0.25;MQ=60;MQRankSum=0;QD=14.35;ReadPosRankSum=-0.966;SOR=0.942	GT:AD:DP:GQ:PGT:PID:PL:PS	1|0:0,19:46:99:1|0:175160809_TC_T:1582,823,1109:175160809	3	0	3	0
chr1	180196268	180196268	C	A	exonic	QSOX1	.	nonsynonymous SNV	QSOX1:NM_001004128:exon12:c.C1475A:p.P492H,QSOX1:NM_002826:exon12:c.C1475A:p.P492H	.	436	1085	1	0	0	1	0.000460617	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.093	0.0960057475869	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1396624860	6.173e-06	6.156e-06	6.817e-06	5.52e-06	0.0005	2.9e-06	2.1e-06	0.0001	7.56e-05	0	0	0	0	0	0.0005	4.508e-06	0	1.162e-05	1.315e-05	1.313e-05	0	2.691e-05	2.415e-05	2.18e-06	8.2e-07	.	.	2.415e-05	0	0	0	0	0	0	1.47e-05	0	0	0.033	0.48186	D	0.055	0.46862	T	0.988	0.64070	D	0.886	0.62898	P	0.065121	0.21904	N	0.489979	0.611856	0.30853	N	2.615	0.76484	M	0.56	0.54540	T	-3.86	0.72471	D	0.158	0.23884	-0.3750	0.72808	T	0.291	0.66307	T	10	0.2832623	0.45906	T	0.096006	0.76528	D	0.093	0.26882	0.452	0.51448	0.649647786155	0.64673	0.24672952391082617	0.24586	0.501882001943	0.48560	0.326102793217	0.14345	T	0.197334	0.55397	T	-0.146266	0.28899	T	-0.432392	0.29663	T	0.916359901428223	0.57375	D	0.765923	0.40874	T	0.3379546	0.56116	0.31646436	0.57627	0.3379546	0.56116	0.31646436	0.57626	-6.25	0.53507	T	.	.	0.149	0.45323	B	.;.	.;.	3.646891	0.51738	23.1	0.99467314044365296	0.66154	0.51000	0.28794	D	AEFDBI	0.366492	0.45429	N	0.241379457677685	0.53214	3.491348	0.151521341702396	0.47223	2.955784	0.999913610726803	0.45857	0.706548	0.73137	0	0.653731	0.59785	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.46	4.53	0.55009	1.799000	0.38459	2.144000	0.30864	0.580000	0.29708	0.272000	0.25065	1.000000	0.68203	0.894000	0.43146	0.0:0.9151:0.0:0.0849	12.277	0.54057	791	0.46100	ERV/ALR sulfhydryl oxidase domain|ERV/ALR sulfhydryl oxidase domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1383.83	33	chr1	180196268	.	C	A	1383.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.545;DP=283;ExcessHet=0;FS=2.616;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.44;ReadPosRankSum=-0.089;SOR=0.462	GT:AD:DP:GQ:PL	0/1:47,56:103:99:1394,0,1229	5	0	1	0
chr1	180941064	180941064	A	G	exonic	KIAA1614	.	nonsynonymous SNV	KIAA1614:NM_020950:exon7:c.A2938G:p.T980A	.	19	1476	24	3	0	30	0.0100604	.	.	.	2806212	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.045	.	0.0076	0.0061901	0.0086	0.0034	0.0106	0	0.0063	0.0108	0.0080	0.0065	0.0075678	1170	154602	rs201945338	0.0117	0.0097	0.0119	0.0115	0.0219	0.0116	0.0115	0.0182	0.0168	0.0033	0.0139	0.0044	0	0.0080	0.0219	0.0128	0.0142	0.0047	0.0086	0.0084	0.0087	0.0084	0.0189	0.0082	0.0080	0.0168	0.0160	0.0029	0.0012	0.0189	0.0039	0.0005	0.0041	0.0303	0.0111	0.0156	0.0046	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.835255	0.09075	N	0.922088	1	0.08975	N	-2.215	0.00119	N	2.66	0.20255	T	1.27	0.00985	N	0.059	0.04188	-0.9400	0.42616	T	0.004	0.01125	T	9	0.0034906864	0.00062	T	.	.	.	0.045	0.12272	.	.	0.0138822411134	0.00435	0.0973136760446218	0.09662	0.205534111344	0.22973	0.315716296434	0.12772	T	3.09E-4	0.00078	T	-0.738076	0.00021	T	-0.822584	0.01401	T	0.00654906188324048	0.00073	T	0.275872	0.04729	T	0.02216447	0.00861	0.02993354	0.01387	0.02216447	0.00861	0.02993354	0.01387	-2.429	0.05314	T	.	.	0.073	0.06849	B	.;.	.;.	-0.218727	0.02997	0.451	0.3080931036934022	0.01704	0.00135	0.00831	N	AEFDB	0.018074	0.00520	N	-1.55839277211883	0.01486	0.06487531	-1.44364132447668	0.02828	0.130815	0.953078564946542	0.28053	0.580535	0.33130	0	0.578056	0.33634	0	0.576033	0.28219	0	0.604944	0.38103	0	.	.	5.21	0.672	0.17103	-0.150000	0.10174	0.372000	0.17687	-1.035000	0.01680	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2073:0.2481:0.3843:0.1603	1.150	0.01674	785	0.46916	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.019697	0.040404	0.019074	0.011765	0.000000	0.034483	0.012270	0.007576	0.08333	315.83	27	chr1	180941064	.	A	G	315.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.541;DP=198;ExcessHet=0;FS=1.488;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=8.54;ReadPosRankSum=-0.549;SOR=1.096	GT:AD:DP:GQ:PL	0/1:23,14:37:99:326,0,558	5	0	1	0
chr1	182806516	182806516	G	A	exonic	NPL	.	nonsynonymous SNV	NPL:NM_001200050:exon3:c.G158A:p.R53H	.	424	1097	1	0	0	1	0.000455581	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.172	0.0132737795624	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1254260382	5.781e-06	5.472e-06	4.279e-06	7.322e-06	0.0002	2.49e-06	1.8e-06	7.4e-07	2.1e-07	0	2.801e-05	0	2.798e-05	0	0.0002	2.781e-06	1.726e-05	1.262e-05	1.314e-05	1.313e-05	0	2.69e-05	6.545e-05	2.18e-06	8.2e-07	.	.	0	0	6.545e-05	0	0	0	0	1.47e-05	0	0	0.019	0.50132	D	0.338	0.18125	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	.	.	.	-1.77	0.83660	D	-0.97	0.25770	N	0.09	0.06854	-0.7074	0.60080	T	0.345	0.71052	T	9	0.122164816	0.23171	T	0.013274	0.32542	T	0.172	0.43662	0.668	0.80602	0.247872288689	0.24386	.	.	.	.	.	.	.	.	.	.	-0.270218	0.11732	T	-0.503382	0.21998	T	0.027473084891702	0.01612	T	0.39816	0.10064	T	.	.	.	.	.	.	.	.	-4.117	0.25540	T	.	.	0.109	0.20896	B	.	.	0.408088	0.07791	4.480	0.57817247662865101	0.05853	0.06800	0.12824	N	AEFDGBHCI	0.048270	0.08220	N	-1.10916631223774	0.06479	0.2983818	-1.17311538342287	0.06361	0.3059989	0.878503990320674	0.25567	0.495158	0.18159	0	0.61073	0.52368	0	0.535252	0.11790	0	0.564101	0.26826	0	.	.	3.87	-0.136	0.12815	0.144000	0.15956	1.200000	0.24830	-0.735000	0.03699	0.000000	0.06391	0.001000	0.17328	0.000000	0.00833	0.4592:0.0:0.5408:0.0	6.209	0.19831	406	0.82375	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	1217.83	34	chr1	182806516	.	G	A	1217.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.305;DP=270;ExcessHet=0;FS=2.664;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.82;ReadPosRankSum=-0.347;SOR=0.981	GT:AD:DP:GQ:PL	0/1:44,51:95:99:1228,0,996	5	0	1	0
chr1	197101269	197101269	A	C	exonic	ASPM	.	nonsynonymous SNV	ASPM:NM_018136:exon18:c.T7982G:p.L2661R	Microcephaly 5, primary, autosomal recessive, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	192035	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.152	0.0241668418978	.	.	8.328e-06	0	0	0	0	1.512e-05	0	0	6.5e-06	1	154602	rs752132953	1.438e-05	1.505e-05	1.772e-05	1.101e-05	2.994e-05	9.24e-06	7.84e-06	1.175e-05	9.55e-06	2.994e-05	0	0	0	0	0	1.8e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.349	0.12345	T	0.356	0.17166	T	0.404	0.34945	B	0.118	0.32088	B	0.034664	0.01790	N	2.339110	1	0.08975	N	0.995	0.25082	L	-0.59	0.71543	T	-1.27	0.31981	N	0.494	0.52740	-0.9292	0.44256	T	0.198	0.55272	T	10	0.18222862	0.33492	T	0.024167	0.47155	T	0.152	0.39956	0.545	0.65873	0.274366138417	0.27033	0.010232815036581513	0.00985	.	.	0.260709106922	0.04976	T	0.032199	0.22383	T	-0.123565	0.32542	T	-0.415269	0.31618	T	0.126948704488158	0.15097	T	0.721628	0.33490	T	0.09374014	0.22025	0.08644684	0.20027	0.09374014	0.22024	0.08644684	0.20027	-7.302	0.56210	T	.	.	0.095	0.14979	B	.	.	-0.369329	0.02329	0.250	0.95133313389912211	0.26247	0.04385	0.09965	N	AEFBI	0.087671	0.17775	N	-1.06009589394265	0.07391	0.3431973	-1.15665281267164	0.06649	0.3207685	0.976600012788709	0.29740	0.706298	0.61202	0	0.709663	0.81188	0	0.643519	0.47002	0	0.613276	0.41899	0	.	.	4.87	-4.98	0.02794	-0.056000	0.11744	0.002000	0.13306	-0.092000	0.16129	0.000000	0.06391	0.000000	0.08366	0.297000	0.24428	0.2856:0.4663:0.1349:0.1132	3.787	0.08222	177	0.93145	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	912.83	33	chr1	197101269	.	A	C	912.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.195;DP=242;ExcessHet=0;FS=1.954;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.86;ReadPosRankSum=-0.657;SOR=0.583	GT:AD:DP:GQ:PL	0/1:38,33:71:99:923,0,1068	5	0	1	0
chr1	201047218	201047218	T	C	exonic	CACNA1S	.	nonsynonymous SNV	CACNA1S:NM_000069:exon38:c.A4565G:p.K1522R	Hypokalemic periodic paralysis, type 1, Autosomal dominant	0	1521	1	0	0	1	0.000328623	.	.	.	1883413	Hypokalemic_periodic_paralysis,_type_1|Malignant_hyperthermia,_susceptibility_to,_5|not_provided	MONDO:MONDO:0042979,MedGen:C3714580,OMIM:170400,Orphanet:681|MONDO:MONDO:0011163,MedGen:C1866077,OMIM:601887,Orphanet:423|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.838	0.100838529506	.	.	9.063e-05	0	0	0	0	0	0	0.0007	7.12e-05	11	154602	rs763242241	3.215e-05	3.215e-05	1.497e-05	4.95e-05	0.0005	2.478e-05	2.22e-05	0.0003	0.0003	2.987e-05	0	0	0	0	0	2.698e-06	4.967e-05	0.0005	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	0.56456	D	0.003	0.76473	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.087615	0.999983	0.54805	D	2.05	0.56469	M	-3.28	0.93691	D	-2.79	0.59059	D	0.781	0.77789	0.958	0.96517	D	0.879	0.95979	D	10	0.7276459	0.74081	D	0.100839	0.77336	D	0.838	0.94914	0.676	0.81398	0.946230323446	0.94566	0.7378603442488704	0.73731	0.481987173226	0.47167	0.753767728806	0.75002	T	0.095516	0.85839	T	0.0716689	0.61052	D	0.181327	0.82069	D	0.704487502574921	0.40933	D	0.950005	0.80823	D	0.9330398	0.94542	0.8856247	0.93957	0.9330398	0.94542	0.8856247	0.93957	-13.343	0.90727	D	0.6932864312922904	0.77130	0.463	0.62864	A	.;.	.;.	5.255758	0.88249	29.5	0.99905462899083231	0.97651	0.98177	0.80270	D	AEFGBI	0.929301	0.91485	D	0.766695333961177	0.83987	8.163737	0.725903102116991	0.84346	8.266315	0.999992696715675	0.74766	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.07	5.07	0.68106	7.667000	0.82852	7.881000	0.72509	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.977000	0.56843	0.0:0.0:0.0:1.0	15.109	0.72014	900	0.24599	Voltage-dependent calcium channel, alpha-1 subunit, IQ domain|Voltage-dependent calcium channel, alpha-1 subunit, IQ domain;Voltage-dependent calcium channel, alpha-1 subunit, IQ domain|Voltage-dependent calcium channel, alpha-1 subunit, IQ domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1336.83	36	chr1	201047218	.	T	C	1336.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.807;DP=283;ExcessHet=0;FS=6.427;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.5;ReadPosRankSum=-0.591;SOR=0.735	GT:AD:DP:GQ:PL	0/1:45,54:99:99:1347,0,1142	5	0	1	0
chr1	201212928	201212928	G	A	exonic	IGFN1	.	nonsynonymous SNV	IGFN1:NM_001164586:exon12:c.G8035A:p.G2679S	.	409	1092	21	0	0	21	0.00952381	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.087	0.124958243734	.	0.000798722	0.0029	0.0006	0.0025	0	0	0.0001	0	0.0064	0.0004269	66	154602	rs182559666	0.0007	0.0006	0.0005	0.0009	0.0065	0.0006	0.0006	0.0060	0.0058	6.33e-05	0.0005	0.0005	0	0	0.0063	0.0003	0.0008	0.0065	0.0006	0.0006	0.0004	0.0008	0.0089	0.0005	0.0004	0.0068	0.0060	0.0002	0	0.0005	0.0003	0	0	0.0068	0.0004	0.0009	0.0089	0.001	0.78490	D	0.008	0.67890	D	.	.	.	.	.	.	.	.	.	.	1	0.19781	N	.	.	.	-0.7	0.72785	T	-0.97	0.25770	N	0.102	0.08506	-1.0375	0.18078	T	0.041	0.17827	T	7	0.0079502165	0.00181	T	0.124958	0.80639	D	0.096	0.27654	.	.	0.356690202451	0.35275	0.3098377268120361	0.30896	.	.	0.302698194981	0.10803	T	.	.	.	-0.432643	0.01429	T	-0.390792	0.34458	T	0.0728294545753524	0.09043	T	0.50265	0.15781	T	.	.	.	.	.	.	.	.	-4.063	0.24743	T	.	.	0.154	0.34071	B	.	.	2.861956	0.37813	20.6	0.98888428553666308	0.47948	0.11089	0.16400	N	AEFDGBI	0.093735	0.18961	N	-0.532946349627233	0.21022	1.112559	-0.610896047065675	0.19213	1.029839	2.89720902270597E-4	0.06355	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	3.01	3.01	0.33872	0.837000	0.27212	4.012000	0.41171	0.608000	0.46601	0.001000	0.13787	0.965000	0.29475	0.013000	0.09966	0.1488:0.0:0.8512:0.0	5.820	0.17776	917	0.20147	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.008721	0.000000	0.008197	0.012712	0.000000	0.000000	0.000000	0.035714	0.08333	1084.83	38	chr1	201212928	.	G	A	1084.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.559;DP=273;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.91;ReadPosRankSum=0.735;SOR=0.631	GT:AD:DP:GQ:PL	0/1:44,40:84:99:1095,0,1173	5	0	1	0
chr1	201224820	201224820	C	-	exonic	IGFN1	.	stopgain	IGFN1:NM_001164586:exon21:c.10432delC:p.L3478*,IGFN1:NM_001367841:exon22:c.3061delC:p.L1021*	.	422	1098	2	0	0	2	0.000909918	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0	8.709e-05	0	0	1.514e-05	0	0.0011	0.0001294	20	154602	rs781022031	8.278e-05	8.277e-05	3.131e-05	0.0001	0.0014	7.069e-05	6.618e-05	0.0012	0.0011	0	0	0	0	0	0	1.799e-06	3.311e-05	0.0014	5.909e-05	5.905e-05	1.285e-05	0.0001	0.0019	3.075e-05	2.208e-05	0.0010	0.0007	0	0	0	0	0	0	0	0	0	0.0019	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	1214.79	38	chr1	201224819	.	GC	G	1214.79	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.982;DP=246;ExcessHet=0;FS=1.032;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=19.28;ReadPosRankSum=0.54;SOR=0.874	GT:AD:DP:GQ:PL	0/1:28,35:63:99:1225,0,941	5	0	1	0
chr1	203712128	203712128	G	A	exonic	ATP2B4	.	nonsynonymous SNV	ATP2B4:NM_001001396:exon13:c.G2200A:p.E734K,ATP2B4:NM_001365783:exon13:c.G2200A:p.E734K,ATP2B4:NM_001365784:exon13:c.G2200A:p.E734K,ATP2B4:NM_001684:exon13:c.G2200A:p.E734K	.	392	1122	7	1	0	9	0.00399467	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.719	0.15961621119	.	.	1.662e-05	0	0	0	0	3.018e-05	0	0	1.29e-05	2	154602	rs767252454	1.505e-05	1.505e-05	1.498e-05	1.513e-05	0.0005	9.85e-06	8.42e-06	0.0001	7.578e-05	0	0	0	2.519e-05	0	0.0005	1.529e-05	1.656e-05	0	3.942e-05	3.94e-05	2.569e-05	5.379e-05	8.819e-05	1.715e-05	1.129e-05	3.761e-05	2.575e-05	0	0	0	0	0	0	0	8.819e-05	0	0	0.123	0.27544	T	0.172	0.30241	T	0.522	0.37544	P	0.23	0.38212	B	0.000068	0.52346	D	0.000000	1	0.81001	D	1.1	0.28011	L	-4.37	0.97343	D	-2.55	0.55181	D	0.677	0.68429	1.000	0.97188	D	0.889	0.96308	D	10	0.6508374	0.69593	D	0.159616	0.83978	D	0.719	0.90056	0.506	0.60078	0.728539117464	0.72613	0.6630601337283123	0.66243	1.09264733632	0.77486	0.723170399666	0.70508	T	.	.	.	0.299337	0.82915	D	0.255847	0.85896	D	0.846108078956604	0.49833	D	0.959604	0.84807	D	.	.	.	.	.	.	.	.	-8.212	0.62633	D	.	.	0.208	0.43435	B	.;.;.	.;.;.	4.960152	0.82006	27.7	0.99923866938744876	0.98917	0.99593	0.97790	D	AEFDBI	0.880162	0.80662	D	0.533246543680304	0.69067	5.304861	0.630452243532627	0.77161	6.626581	0.999999999999856	0.74766	0.719381	0.83141	0	0.593476	0.48661	0	0.724815	0.87919	0	0.733575	0.97253	0	.	.	5.51	5.51	0.81769	9.875000	0.98483	11.786000	0.96242	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.988000	0.63387	0.0:0.0:1.0:0.0	19.031	0.92939	598	0.68232	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	977.83	41	chr1	203712128	.	G	A	977.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.504;DP=232;ExcessHet=0;FS=6.218;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=18.11;ReadPosRankSum=0.046;SOR=1.616	GT:AD:DP:GQ:PL	0/1:18,36:54:99:988,0,417	5	0	1	0
chr1	203772073	203772073	C	T	exonic	LAX1	.	nonsynonymous SNV	LAX1:NM_001136190:exon4:c.C268T:p.H90Y,LAX1:NM_001282878:exon4:c.C88T:p.H30Y,LAX1:NM_017773:exon4:c.C316T:p.H106Y	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.046	0.00275016132125	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.844e-07	6.841e-07	0	1.376e-06	.	0	0	.	.	0	0	0	0	0	0	0	1.657e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.055	0.40068	T	0.242	0.24334	T	0.965	0.56013	D	0.466	0.46637	P	0.782499	0.06663	N	1.109350	0.988882	0.24360	N	1.495	0.37439	L	.	.	.	-3.31	0.65972	D	0.325	0.36569	-1.0176	0.24495	T	0.108	0.39221	T	9	0.20462683	0.36661	T	0.00275	0.05694	T	0.046	0.12618	0.268	0.21576	0.605049500696	0.60188	0.024654007578971442	0.02416	0.196763213255	0.22047	0.333337843418	0.15438	T	0.610397	0.87644	D	-0.151841	0.28022	T	-0.455885	0.27049	T	0.606053292751312	0.36642	D	0.673433	0.28201	T	0.14101975	0.32512	0.20251477	0.44284	0.14101975	0.32512	0.20251477	0.44283	-3.943	0.22948	T	.	.	0.120	0.28664	B	.;.	.;.	2.070044	0.26324	17.08	0.99165217897944913	0.54212	0.25479	0.22711	N	AEFDGBIJ	0.074237	0.14873	N	0.0128197722892784	0.42438	2.556956	-0.0485570388563663	0.37552	2.20032	0.999938819406304	0.46732	0.615465	0.37627	0	0.633656	0.55848	0	0.573078	0.19857	0	0.542086	0.14980	0	.	.	5.16	3.25	0.36363	0.755000	0.26070	2.657000	0.33854	0.599000	0.40250	0.514000	0.27064	0.968000	0.29604	0.925000	0.46118	0.0:0.8181:0.0:0.1819	8.684	0.33389	472	0.77968	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	620.83	35	chr1	203772073	.	C	T	620.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.938;DP=241;ExcessHet=0;FS=2.155;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.01;ReadPosRankSum=0.621;SOR=0.409	GT:AD:DP:GQ:PL	0/1:33,29:62:99:631,0,786	5	0	1	0
chr1	204444146	204444146	C	G	exonic	PIK3C2B	.	nonsynonymous SNV	PIK3C2B:NM_001377334:exon18:c.G2789C:p.C930S,PIK3C2B:NM_002646:exon20:c.G2789C:p.C930S,PIK3C2B:NM_001377335:exon21:c.G2705C:p.C902S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.313	0.0237418535776	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.031	0.45039	D	0.081	0.42794	T	0.997	0.70673	D	0.962	0.70672	D	0.000000	0.84330	D	0.000000	0.995401	0.42676	D	0.325	0.10370	N	0.09	0.61443	T	-3.79	0.71639	D	0.832	0.82761	-0.8769	0.50005	T	0.203	0.56087	T	10	0.61663824	0.67743	D	0.023742	0.46713	T	0.313	0.63482	0.353	0.35246	0.690363084289	0.68770	0.2959275635875451	0.29505	1.13746954477	0.78817	0.827165842056	0.86128	D	0.582301	0.86341	D	0.259438	0.79477	D	0.134888	0.79212	D	0.790150687056041	0.45699	D	0.820118	0.51656	T	0.39687213	0.60515	0.4581177	0.68513	0.39687213	0.60516	0.4581177	0.68514	-5.9	0.45435	T	.	.	0.412	0.72319	A	.;.	.;.	4.568797	0.72067	25.8	0.97379865545043809	0.33666	0.90571	0.51857	D	ALL	0.672735	0.63903	D	0.166364408756116	0.49590	3.15765	0.322092539868483	0.56840	3.848078	1.0	0.98316	0.706548	0.73137	0	0.724815	0.89359	0	0.608884	0.39905	0	0.674467	0.66132	0	.	.	5.98	5.98	0.97147	2.703000	0.46778	7.616000	0.62106	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.967000	0.53440	0.144:0.856:0.0:0.0	14.830	0.69772	648	0.63242	Phosphoinositide 3-kinase, accessory (PIK) domain|Phosphoinositide 3-kinase, accessory (PIK) domain|Phosphoinositide 3-kinase, accessory (PIK) domain;Phosphoinositide 3-kinase, accessory (PIK) domain|Phosphoinositide 3-kinase, accessory (PIK) domain|Phosphoinositide 3-kinase, accessory (PIK) domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	804.23	124	chr1	204444146	.	C	G	804.23	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-4.728;DP=580;ExcessHet=3.1439;FS=238.355;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=1.71;ReadPosRankSum=0.03;SOR=9.472	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:80,21:101:49:0|1:204444146_C_G:49,0,2282:204444146	5	0	1	0
chr1	204444147	204444147	A	G	exonic	PIK3C2B	.	nonsynonymous SNV	PIK3C2B:NM_001377334:exon18:c.T2788C:p.C930R,PIK3C2B:NM_002646:exon20:c.T2788C:p.C930R,PIK3C2B:NM_001377335:exon21:c.T2704C:p.C902R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.372	0.0699442069728	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	0.55530	D	0.034	0.53788	D	0.999	0.77913	D	0.985	0.76457	D	0.000000	0.84330	D	0.000000	1	0.81001	D	0.83	0.20963	L	0.14	0.60854	T	-5.22	0.83830	D	0.861	0.86191	-0.7225	0.59339	T	0.246	0.61530	T	10	0.6625425	0.70238	D	0.069944	0.70868	D	0.372	0.69102	0.335	0.32329	0.796189045978	0.79428	0.5671153260514122	0.56639	1.38482303822	0.84866	0.874912202358	0.93263	D	0.60522	0.87406	D	0.279203	0.81249	D	0.163279	0.81006	D	0.975287973880768	0.70867	D	0.739426	0.52772	T	0.74623775	0.80650	0.7226829	0.83623	0.74623775	0.80652	0.7226829	0.83624	-7.62	0.58450	D	.	.	0.819	0.87226	P	.;.	.;.	4.639661	0.73847	26.1	0.99796849897327999	0.88194	0.90532	0.51786	D	ALL	0.673803	0.63974	D	0.263763222116594	0.54323	3.598145	0.384514743775906	0.60611	4.250483	1.0	0.98316	0.706548	0.73137	0	0.724815	0.89359	0	0.608884	0.39905	0	0.674467	0.66132	0	.	.	5.98	5.98	0.97147	3.831000	0.55477	11.132000	0.86827	0.691000	0.84096	1.000000	0.71638	1.000000	0.68203	0.961000	0.51904	0.9272:0.0:0.0728:0.0	10.472	0.43830	648	0.63242	Phosphoinositide 3-kinase, accessory (PIK) domain|Phosphoinositide 3-kinase, accessory (PIK) domain|Phosphoinositide 3-kinase, accessory (PIK) domain;Phosphoinositide 3-kinase, accessory (PIK) domain|Phosphoinositide 3-kinase, accessory (PIK) domain|Phosphoinositide 3-kinase, accessory (PIK) domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1667	299.06	124	chr1	204444147	.	A	G	299.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-3.023;DP=497;ExcessHet=0.4139;FS=229.318;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=1.33;ReadPosRankSum=1.95;SOR=7.7	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:80,21:101:49:0|1:204444146_C_G:49,0,2282:204444146	4	0	2	0
chr1	210623556	210623556	C	T	exonic	HHAT	.	stopgain	HHAT:NM_001170564:exon9:c.C865T:p.R289X,HHAT:NM_001170587:exon10:c.C1279T:p.R427X,HHAT:NM_001170588:exon10:c.C1081T:p.R361X,HHAT:NM_001122834:exon11:c.C1276T:p.R426X,HHAT:NM_001170580:exon11:c.C1276T:p.R426X,HHAT:NM_018194:exon11:c.C1276T:p.R426X	.	440	1081	1	0	0	1	0.000462321	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.577e-06	9.577e-06	8.168e-06	1.1e-05	2.319e-05	5.56e-06	4.35e-06	5.31e-06	3.88e-06	0	2.236e-05	0	0	0	0	9.892e-06	0	2.319e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000029	0.55875	D	0.070853	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.846	0.86833	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.574913	0.96804	D	0.588046	0.96750	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.;.;.;.;.	.;.;.;.;.;.;.	7.632052	0.96710	36	0.9954390283487633	0.70711	0.95672	0.65668	D	AEFBI	0.070531	0.14005	N	0.292551448220101	0.55772	3.741154	0.073394036066982	0.43216	2.627969	0.968170256174918	0.29033	0.638212	0.43195	0	0.670034	0.63936	0	0.618467	0.43123	0	0.668105	0.65232	0	.	.	5.87	4.96	0.65153	3.159000	0.50430	3.283000	0.37246	-0.218000	0.08083	0.992000	0.37556	0.998000	0.33993	0.003000	0.05239	0.1541:0.8458:0.0:0.0	13.742	0.62335	929	0.16858	.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1201.83	33	chr1	210623556	.	C	T	1201.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.156;DP=289;ExcessHet=0;FS=2.707;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.34;ReadPosRankSum=-0.728;SOR=1.059	GT:AD:DP:GQ:PL	0/1:59,47:106:99:1212,0,1506	5	0	1	0
chr1	212100360	212100360	A	G	exonic	DTL	.	nonsynonymous SNV	DTL:NM_001286229:exon12:c.A557G:p.D186G,DTL:NM_001286230:exon13:c.A1244G:p.D415G,DTL:NM_016448:exon14:c.A1370G:p.D457G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.526	0.0705558454721	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.851e-05	0.0028	0.0001	7.4e-05	0.0004	7.568e-05	7.088e-05	8.625e-05	8.04e-05	0.0002	0	7.808e-05	0	0	0.0004	0.0001	8.675e-05	2.365e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.008	0.58626	D	0.106	0.39340	T	1.0	0.90584	D	0.998	0.88582	D	0.000003	0.62929	D	0.058592	0.999257	0.46462	D	2.25	0.63811	M	-0.7	0.72785	T	-1.67	0.40468	N	0.749	0.74826	-0.3539	0.73441	T	0.438	0.77695	T	10	0.75805414	0.76133	D	0.070556	0.71033	D	0.526	0.79947	0.319	0.29741	0.808314291208	0.80651	0.3264893862643791	0.32561	0.86120817891	0.68970	0.44428807497	0.31164	T	0.329649	0.69993	T	0.19523	0.73447	D	0.0426576	0.73102	D	0.955969452857971	0.64639	D	0.89741	0.64114	D	0.3560679	0.57536	0.23249285	0.48411	0.3560679	0.57536	0.23249285	0.48410	-2.972	0.09882	T	.	.	0.269	0.50334	B	.;.	.;.	4.309799	0.65871	24.9	0.99831915659102677	0.91370	0.96274	0.68342	D	AEFGBI	0.726655	0.67525	D	0.474501222025507	0.65606	4.843659	0.455932996682415	0.65097	4.781064	0.999162801006358	0.38622	0.736574	0.97449	0	0.724815	0.89359	0	0.732669	0.93749	0	0.613276	0.41899	0	.	.	5.41	4.24	0.49486	5.910000	0.69668	9.238000	0.79403	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.8598:0.1402:0.0:0.0	12.458	0.55050	665	0.61472	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3333	173.87	91	chr1	212100360	.	A	G	173.87	.	AC=4;AF=0.333;AN=12;BaseQRankSum=-2.325;DP=527;ExcessHet=3.1439;FS=175.263;MLEAC=4;MLEAF=0.333;MQ=60;MQRankSum=0;QD=0.5;ReadPosRankSum=1.86;SOR=8.051	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:42,10:52:21:.:.:21,0,1548:.	2	0	4	0
chr1	212100361	212100361	C	G	exonic	DTL	.	nonsynonymous SNV	DTL:NM_001286229:exon12:c.C558G:p.D186E,DTL:NM_001286230:exon13:c.C1245G:p.D415E,DTL:NM_016448:exon14:c.C1371G:p.D457E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.311	0.0329555447533	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.37e-05	0.0014	5.667e-05	3.064e-05	5.487e-05	3.491e-05	3.173e-05	4.337e-05	3.902e-05	3.026e-05	0	3.843e-05	0	0	0	5.487e-05	1.673e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.65419	D	0.171	0.31936	T	1.0	0.90584	D	0.996	0.84481	D	0.000003	0.62929	D	0.058592	0.989147	0.40895	D	2.25	0.63811	M	-0.6	0.71662	T	-0.8	0.22294	N	0.349	0.39052	-0.3807	0.72629	T	0.393	0.74685	T	10	0.3230481	0.49647	T	0.032956	0.54641	D	0.311	0.63269	0.299	0.26522	0.740948349148	0.73862	0.17433452095652613	0.17352	0.336806597811	0.35678	0.457547277212	0.32974	T	0.149432	0.48844	T	0.025508	0.55121	T	-0.201136	0.54540	T	0.753782212734222	0.43497	D	0.759324	0.38363	T	0.3453272	0.56701	0.20157085	0.44143	0.3453272	0.56701	0.20157085	0.44142	-3.559	0.17267	T	.	.	0.298	0.52841	B	.;.	.;.	3.620151	0.51223	23.1	0.99649687588057234	0.77192	0.89840	0.50569	D	AEFGBI	0.335728	0.43407	N	0.202993589347586	0.51343	3.316385	0.188628048828177	0.49223	3.128123	0.997589750058845	0.35786	0.736574	0.97449	0	0.724815	0.89359	0	0.732669	0.93749	0	0.613276	0.41899	0	.	.	5.41	3.55	0.39770	1.268000	0.32665	1.684000	0.28029	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.8588:0.0:0.1412	11.901	0.51966	665	0.61472	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	363.17	83	chr1	212100361	.	C	G	363.17	.	AC=4;AF=0.5;AN=8;BaseQRankSum=-3.042;DP=504;ExcessHet=3.1439;FS=183.176;MLEAC=5;MLEAF=0.625;MQ=60;MQRankSum=0;QD=1.06;ReadPosRankSum=1.97;SOR=8.121	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:39,12:51:99:0|1:212100361_C_G:203,0,1417:212100361	0	0	4	2
chr1	212100362	212100362	C	G	exonic	DTL	.	nonsynonymous SNV	DTL:NM_001286229:exon12:c.C559G:p.L187V,DTL:NM_001286230:exon13:c.C1246G:p.L416V,DTL:NM_016448:exon14:c.C1372G:p.L458V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.250	0.0545165954567	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.847e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	0.55530	D	0.438	0.13595	T	1.0	0.90584	D	0.998	0.88582	D	0.000000	0.84330	D	0.000000	0.999999	0.58761	D	2.25	0.63811	M	-0.81	0.73949	T	-0.71	0.20358	N	0.513	0.54409	-0.1746	0.78316	T	0.536	0.82849	D	10	0.37823913	0.53996	T	0.054517	0.65885	D	0.250	0.55888	0.198	0.11110	0.766922051636	0.76479	0.22416353566131936	0.22331	1.04972523653	0.76107	0.472474902868	0.35021	T	0.11718	0.43707	T	0.00178878	0.51901	T	-0.235207	0.51265	T	0.933079659938812	0.59956	D	0.891311	0.62583	D	0.38030902	0.59339	0.26082087	0.51851	0.38030902	0.59339	0.26082087	0.51850	-4.02	0.24102	T	.	.	0.169	0.37235	B	.;.	.;.	4.139380	0.62006	24.4	0.99826959884761401	0.90939	0.96985	0.72028	D	AEFGBI	0.698434	0.65611	D	0.646827706149991	0.76162	6.436104	0.648942237263915	0.78531	6.895201	0.9999999853233	0.74766	0.736574	0.97449	0	0.724815	0.89359	0	0.732669	0.93749	0	0.613276	0.41899	0	.	.	5.41	5.41	0.78313	5.006000	0.63731	5.980000	0.52153	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:1.0:0.0:0.0	19.553	0.95324	665	0.61472	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3333	355.89	85	chr1	212100362	.	C	G	355.89	.	AC=4;AF=0.333;AN=12;BaseQRankSum=-4.123;DP=516;ExcessHet=3.1439;FS=183.176;MLEAC=4;MLEAF=0.333;MQ=60;MQRankSum=0;QD=1.03;ReadPosRankSum=2.19;SOR=8.121	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:39,12:51:99:0|1:212100361_C_G:203,0,1417:212100361	2	0	4	0
chr1	219958851	219958851	A	-	exonic	SLC30A10	.	frameshift deletion	SLC30A10:NM_001376929:exon1:c.168delT:p.F56Lfs*3	Hypermanganesemia with dystonia 1, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	46.63	.	chr1	219958850	.	CA	C	46.63	.	AC=1;AF=0.167;AN=6;BaseQRankSum=-0.967;DP=8;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.167;MQ=60;MQRankSum=0;QD=15.54;ReadPosRankSum=-0.967;SOR=0.223	GT:AD:DP:GQ:PL	0/1:1,2:3:22:53,0,22	2	0	1	3
chr1	220880258	220880258	-	GCAGCAACAGCCGCC	exonic	HLX	.	nonframeshift insertion	HLX:NM_021958:exon1:c.401_402insGCAGCAACAGCCGCC:p.P139_P140insQQQPP	.	413	1093	16	0	0	16	0.00726612	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0107	0.0005	0.0045	0.0364	0.0007	0.0014	0.0083	0.0472	0.00011	17	154602	rs752844857	0.0045	0.0045	0.0032	0.0058	0.0472	0.0044	0.0044	0.0460	0.0455	0.0006	0.0052	0.0038	0.0300	0.0011	0.0068	0.0005	0.0055	0.0472	0.0036	0.0036	0.0027	0.0045	0.0487	0.0033	0.0032	0.0436	0.0416	0.0004	0	0.0029	0.0035	0.0302	0.0008	0.0034	0.0010	0.0038	0.0487	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	1204.79	34	chr1	220880258	.	A	AGCAGCAACAGCCGCC	1204.79	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.55;DP=266;ExcessHet=0;FS=2.012;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=17.21;ReadPosRankSum=0.012;SOR=0.997	GT:AD:DP:GQ:PL	0/1:37,33:70:99:1215,0,1344	5	0	1	0
chr1	220881305	220881305	C	T	exonic	HLX	.	nonsynonymous SNV	HLX:NM_021958:exon2:c.C704T:p.A235V	.	418	1091	12	1	0	14	0.00637523	.	.	.	707106	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.310	.	.	0.0133786	0.0067	0.0002	0.0041	0.0010	0	0.0001	0.0055	0.0451	0.0058473	904	154602	rs140376930	0.0030	0.0030	0.0018	0.0042	0.0444	0.0029	0.0029	0.0433	0.0428	0.0004	0.0049	0	0.0003	0	0.0038	3.688e-05	0.0038	0.0444	0.0018	0.0019	0.0012	0.0026	0.0439	0.0017	0.0016	0.0390	0.0372	0.0003	0	0.0027	0	0.0010	0	0	0.0001	0.0009	0.0439	0.012	0.54683	D	0.225	0.25514	T	0.179	0.28995	B	0.052	0.25551	B	0.011027	0.29689	N	0.226724	0.995187	0.81001	D	0.345	0.11182	N	-2.67	0.90332	D	-1.36	0.33798	N	0.296	0.33469	-0.2178	0.77209	T	0.512	0.81681	D	10	0.004606515	0.00096	T	.	.	.	0.310	0.63162	.	.	0.675180841049	0.67242	0.579454902795363	0.57874	0.571372605285	0.53262	0.606326580048	0.53798	T	0.209853	0.57018	T	-0.297712	0.08876	T	-0.167562	0.57666	T	0.0255895648151636	0.01351	T	0.79652	0.44001	T	0.194075	0.41142	0.25753677	0.51472	0.194075	0.41142	0.25753677	0.51471	-5.279	0.39734	T	.	.	0.130	0.27791	B	.	.	4.439918	0.68930	25.3	0.99893942322566454	0.96742	0.98543	0.83909	D	ALL	0.863356	0.78188	D	-0.0089209747296953	0.41451	2.47957	0.20907126839686	0.50351	3.228009	0.99999999999546	0.74766	0.764865	0.99124	0	0.609123	0.50646	0	0.731555	0.93304	0	0.603991	0.37454	0	.	.	5.82	4.86	0.62624	5.828000	0.68999	6.066000	0.53214	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.8708:0.1292:0.0	18.227	0.89857	787	0.46738	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.006546	0.000000	0.002717	0.000000	0.000000	0.000000	0.000000	0.022727	0.08333	1635.83	34	chr1	220881305	.	C	T	1635.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.174;DP=280;ExcessHet=0;FS=8.083;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=17.04;ReadPosRankSum=0.321;SOR=1.08	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:53,43:96:99:0|1:220881305_C_T:1646,0,2096:220881305	5	0	1	0
chr1	247451343	247451343	G	A	exonic	OR2B11	.	nonsynonymous SNV	OR2B11:NM_001004492:exon1:c.C640T:p.P214S	.	428	1080	13	1	0	15	0.00689655	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.228	0.00159758455877	0.0003	0.000798722	0.0009	0	0.0002	0	0	0.0003	0.0022	0.0053	0.0007762	120	154602	rs138984792	0.0005	0.0005	0.0003	0.0007	0.0057	0.0005	0.0005	0.0053	0.0051	5.974e-05	8.944e-05	3.826e-05	2.519e-05	0	0.0031	0.0001	0.0008	0.0057	0.0002	0.0002	0.0002	0.0003	0.0042	0.0002	0.0002	0.0028	0.0023	4.812e-05	0	0	0	0	0	0	0.0002	0.0009	0.0042	0.001	0.78490	D	0.046	0.49120	D	0.905	0.49920	P	0.67	0.53116	P	0.000055	0.53742	D	0.000000	0.999988	0.18198	N	2.055	0.56616	M	0.49	0.55775	T	-7.81	0.95950	D	0.163	0.17140	-0.8278	0.53442	T	0.192	0.54418	T	10	0.011331111	0.00248	T	0.001598	0.02574	T	0.228	0.52768	.	.	0.733297738924	0.73092	0.6814191260334163	0.68080	0.471533087748	0.46419	0.311129689217	0.12077	T	0.015044	0.12694	T	-0.431299	0.01456	T	-0.391079	0.34425	T	0.197809443021719	0.20295	T	0.884811	0.60904	D	0.6751833	0.76711	0.5152324	0.71990	0.6751833	0.76712	0.5152324	0.71990	-8.221	0.62566	D	.	.	0.314	0.54071	B	.;.;.	.;.;.	3.072263	0.41302	21.3	0.99886544990139148	0.96126	0.08358	0.14298	N	AEFDGBI	0.071030	0.14123	N	0.0823687519785962	0.45642	2.817287	-0.00217118200658055	0.39618	2.35174	0.992921110383956	0.33019	0.487112	0.14033	0	0.547309	0.14657	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.09	5.09	0.68647	0.043000	0.13855	.	.	-0.131000	0.13161	0.000000	0.06391	0.999000	0.35428	0.006000	0.07323	0.092:0.0:0.908:0.0	9.714	0.39427	851	0.35303	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003021	0.000000	0.000000	0.005848	0.000000	0.008621	0.000000	0.011364	0.08333	1531.83	122	chr1	247451343	.	G	A	1531.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.197;DP=443;ExcessHet=0;FS=4.519;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.32;ReadPosRankSum=0.129;SOR=0.791	GT:AD:DP:GQ:PL	0/1:57,58:115:99:1542,0,1414	5	0	1	0
chr1	247841812	247841812	C	A	exonic	OR11L1	.	nonsynonymous SNV	OR11L1:NM_001001959:exon1:c.G85T:p.V29F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.027	0.000817092348505	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.32	0.13566	T	0.385	0.15746	T	0.009	0.15093	B	0.006	0.12133	B	0.807199	0.09279	U	0.862887	1	0.08975	N	0.87	0.21467	L	7.25	0.00428	T	-1.89	0.44094	N	0.139	0.13769	-0.9421	0.42282	T	0.001	0.00287	T	10	0.042234004	0.02953	T	8.17E-4	0.00670	T	0.027	0.05988	0.405	0.43738	0.354396617058	0.35051	0.1556322029912174	0.15484	0.0397869265571	0.04249	0.219152480364	0.01262	T	0.030666	0.21682	T	-0.293763	0.09262	T	-0.659747	0.08284	T	0.0588801167905331	0.06991	T	0.0724927	0.00530	T	0.07245021	0.16118	0.09013196	0.21117	0.07245021	0.16118	0.09013196	0.21116	-5.532	0.42166	T	.	.	0.084	0.09627	B	.	.	0.773909	0.11441	8.046	0.92764003248883453	0.22274	0.02678	0.07307	N	AEFDBI	0.030420	0.03061	N	-0.940465421774266	0.09908	0.4710711	-0.946974924739065	0.10993	0.5573292	1.97799550812837E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.2	1.25	0.20475	-2.355000	0.01168	.	.	0.542000	0.25261	0.000000	0.06391	0.000000	0.08366	0.084000	0.17470	0.1489:0.4526:0.145:0.2536	1.503	0.02332	964	0.07719	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	586.83	39	chr1	247841812	.	C	A	586.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.629;DP=252;ExcessHet=0;FS=3.526;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=8.89;ReadPosRankSum=-0.972;SOR=0.368	GT:AD:DP:GQ:PL	0/1:40,26:66:99:597,0,1120	5	0	1	0
chr1	247896487	247896487	C	A	exonic	OR2W3	.	nonsynonymous SNV	OR2W3:NM_001001957:exon1:c.C901A:p.L301M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.220	0.00249526948336	.	.	8.38e-05	0	0	0	0	0	0	0.0006	6.47e-05	10	154602	rs780525144	2.806e-05	2.805e-05	6.808e-06	4.952e-05	0.0005	2.087e-05	1.879e-05	0.0004	0.0003	0	0	0	0	0	0	0	0	0.0005	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.214	0.19361	T	0.203	0.27325	T	1.0	0.90584	D	0.992	0.80445	D	0.000229	0.47286	D	0.000000	1	0.08975	N	1.08	0.27187	L	0.87	0.46412	T	-1.06	0.27669	N	0.281	0.31814	-0.9310	0.43992	T	0.202	0.55836	T	10	0.13607836	0.25892	T	0.002495	0.04953	T	0.220	0.51569	0.536	0.64585	0.308278614506	0.30437	0.16233420741761348	0.16153	.	.	0.279312282801	0.07396	T	0.007757	0.07145	T	-0.342709	0.05203	T	-0.393795	0.34107	T	0.103865139186382	0.12776	T	0.732927	0.34859	T	0.09771456	0.23037	0.08905937	0.20804	0.09771456	0.23037	0.08905937	0.20804	-5.231	0.39255	T	.	.	0.123	0.25753	B	.	.	0.522955	0.08917	5.698	0.65512603293005778	0.07794	0.08548	0.14462	N	AEFBI	0.058004	0.10850	N	-0.160545818934672	0.34789	1.98993	-0.384631754188764	0.25455	1.399936	3.83575852005089E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.19	2.28	0.27583	-0.211000	0.09336	.	.	0.542000	0.25261	0.000000	0.06391	0.000000	0.08366	0.161000	0.20682	0.0:0.7688:0.0:0.2312	9.970	0.40916	958	0.09170	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	676.83	38	chr1	247896487	.	C	A	676.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.201;DP=241;ExcessHet=0;FS=2.692;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.54;ReadPosRankSum=0.981;SOR=1.341	GT:AD:DP:GQ:PL	0/1:25,25:50:99:687,0,688	5	0	1	0
chr1	248441330	248441330	A	G	exonic	OR2T7	.	nonsynonymous SNV	OR2T7:NM_001355223:exon1:c.A214G:p.I72V	.	436	1085	1	0	0	1	0.000460617	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0027691331276	.	.	.	.	.	.	.	.	.	.	.	.	.	rs781331568	6.843e-07	1.368e-06	0	1.376e-06	1.16e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.16e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	841.83	75	chr1	248441330	.	A	G	841.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.329;DP=314;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=49.15;MQRankSum=0.678;QD=8.33;ReadPosRankSum=-0.345;SOR=0.653	GT:AD:DP:GQ:PL	0/1:62,39:101:99:852,0,1749	5	0	1	0
chr2	1638926	1638926	G	A	exonic	PXDN	.	nonsynonymous SNV	PXDN:NM_012293:exon21:c.C4126T:p.R1376C	Anterior segment dysgenesis 7, with sclerocornea, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	366027	Inborn_genetic_diseases|not_provided|Anterior_segment_dysgenesis_7	MeSH:D030342,MedGen:C0950123|MedGen:C3661900|MONDO:MONDO:0010015,MedGen:C3151617,OMIM:269400,Orphanet:289499	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.135	0.0414906527345	0.0004	.	0.0002	0	0	0	0	0.0004	0	0	0.0002523	39	154602	rs202081704	0.0004	0.0004	0.0004	0.0004	0.0005	0.0004	0.0004	0.0005	0.0004	0.0001	4.472e-05	0	2.519e-05	1.873e-05	0.0002	0.0005	0.0002	4.637e-05	0.0003	0.0003	0.0003	0.0002	0.0005	0.0002	0.0002	0.0003	0.0003	7.24e-05	0	0.0003	0	0	0	0	0.0005	0	0	0.08	0.33585	T	0.053	0.47336	T	0.001	0.07471	B	0.001	0.04355	B	0.187772	0.16929	N	0.635120	0.999331	0.21346	N	1.39	0.34934	L	0.12	0.61089	T	-2.33	0.51646	N	0.163	0.17140	-1.0298	0.20519	T	0.103	0.38019	T	10	0.06985924	0.10084	T	0.041491	0.59953	D	0.135	0.36572	.	.	0.400468435593	0.39662	0.4580767984702474	0.45725	0.765822542623	0.64496	0.197311609983	0.00383	T	0.025743	0.19191	T	-0.393523	0.02552	T	-0.464653	0.26095	T	0.0686833657113886	0.08465	T	0.660434	0.26965	T	0.10524921	0.24885	0.056732856	0.10190	0.10524921	0.24884	0.056732856	0.10189	-5.602	0.42810	T	0.15143793752019005	0.17866	0.092	0.13409	B	.	.	2.624591	0.34115	19.54	0.97905938700492445	0.36780	0.56812	0.30213	D	AEFBCI	0.306597	0.41370	N	-0.570796702540349	0.19837	1.041282	-0.462617855517965	0.23191	1.263476	0.999960554841578	0.48965	0.706548	0.73137	0	0.573888	0.26702	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.43	5.43	0.79006	2.565000	0.45602	7.086000	0.57489	0.675000	0.71128	0.372000	0.25940	1.000000	0.68203	0.002000	0.04165	0.0:0.0:0.8443:0.1556	13.518	0.61010	840	0.37365	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1116.83	54	chr2	1638926	.	G	A	1116.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.174;DP=309;ExcessHet=0;FS=1.66;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.63;ReadPosRankSum=-0.484;SOR=0.485	GT:AD:DP:GQ:PL	0/1:49,47:96:99:1127,0,1201	5	0	1	0
chr2	10607266	10607266	T	A	exonic	NOL10	.	nonsynonymous SNV	NOL10:NM_001261392:exon13:c.A994T:p.T332S,NOL10:NM_001261394:exon13:c.A922T:p.T308S,NOL10:NM_024894:exon14:c.A1072T:p.T358S	.	427	1092	2	1	0	4	0.00182815	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.417	0.0759572217758	.	0.000599042	0.0004	0	0.0005	0	0	0.0002	0	0.0015	0.000304	47	154602	rs201230711	0.0002	0.0002	0.0001	0.0002	0.0026	0.0002	0.0001	0.0016	0.0013	0	0.0003	0	0	0	0.0026	8.2e-05	0.0002	0.0014	0.0001	0.0001	0.0001	9.402e-05	0.0010	6.508e-05	5.32e-05	0.0004	0.0003	0	0	6.537e-05	0	0	0	0	0.0001	0.0005	0.0010	0.006	0.61437	D	0.01	0.66756	D	0.961	0.64738	D	0.756	0.64641	P	0.000000	0.84330	D	0.089964	1	0.81001	D	3.325	0.90780	M	0.19	0.60236	T	-3.8	0.71762	D	0.827	0.84194	0.159	0.85206	D	0.473	0.79753	T	10	0.33092368	0.50322	T	0.075957	0.72416	D	0.417	0.72705	0.583	0.70990	0.754972118733	0.75275	0.6673765405415261	0.66675	0.48814725497	0.47630	0.815976858139	0.84411	D	0.339444	0.70859	T	-0.0849957	0.38900	T	0.0697549	0.74894	D	0.323579698801041	0.25966	T	0.979702	0.93041	D	0.56198484	0.70619	0.516831	0.72083	0.56198484	0.70620	0.516831	0.72084	-10.058	0.76927	D	.	.	0.941	0.85964	P	.;.;.	.;.;.	4.533240	0.71188	25.6	0.99701072762543375	0.80660	0.98737	0.86207	D	AEFDGBI	0.909026	0.86512	D	0.874418292964773	0.90452	10.41015	0.82187109512684	0.91272	10.803	0.999999998924122	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	5.76	5.76	0.90726	7.795000	0.84442	7.722000	0.67351	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.979000	0.57723	0.0:0.0:0.0:1.0	16.064	0.80667	940	0.13648	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003021	0.000000	0.004076	0.000000	0.000000	0.000000	0.009146	0.000000	0.08333	704.83	41	chr2	10607266	.	T	A	704.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.656;DP=239;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.3;ReadPosRankSum=-0.036;SOR=0.584	GT:AD:DP:GQ:PL	0/1:24,29:53:99:715,0,605	5	0	1	0
chr2	23864893	23864893	T	C	exonic	ATAD2B	.	nonsynonymous SNV	ATAD2B:NM_001242338:exon11:c.A1220G:p.H407R,ATAD2B:NM_017552:exon11:c.A1220G:p.H407R,ATAD2B:NM_001354107:exon12:c.A1262G:p.H421R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.084	0.0116478170939	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.077e-06	4.105e-06	4.129e-06	0	2.717e-06	5.5e-07	1.5e-07	7.2e-07	2e-07	0	0	0	0	0	0	2.717e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.448	0.09048	T	0.527	0.10209	T	.	.	.	.	.	.	.	.	.	.	0.955574	0.37932	D	.	.	.	-3.53	0.94764	D	-1.58	0.38151	N	0.19	0.20793	-0.8923	0.48731	T	0.148	0.47344	T	9	0.17789313	0.32846	T	0.011648	0.29486	T	0.219	0.51417	0.331	0.31681	0.672754582956	0.66998	0.6648068104265349	0.66417	0.60285670828	0.55282	0.627035319805	0.56724	T	.	.	.	0.0664316	0.60411	T	-0.142352	0.59914	T	0.361597471305519	0.27471	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.088	0.11845	B	.	.	3.381871	0.46779	22.4	0.96857722296242954	0.31369	0.92978	0.57018	D	AEFBI	0.378817	0.46207	N	0.214845505970457	0.51920	3.369515	0.360670962237465	0.59152	4.090821	0.916302595852516	0.26509	0.651	0.46895	0	0.708844	0.79440	0	0.658983	0.55881	0	0.683762	0.67416	0	.	.	5.84	5.84	0.93373	4.206000	0.58271	6.222000	0.55136	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:0.0:1.0	16.532	0.84210	788	0.46569	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3	140.5	30	chr2	23864893	.	T	C	140.5	.	AC=3;AF=0.3;AN=10;BaseQRankSum=-1.338;DP=175;ExcessHet=1.7609;FS=115.489;MLEAC=3;MLEAF=0.3;MQ=60;MQRankSum=0;QD=1.33;ReadPosRankSum=0.798;SOR=7.378	GT:AD:DP:GQ:PL	0/1:23,13:36:63:63,0,254	2	0	3	1
chr2	26477826	26477826	A	C	exonic	OTOF	.	nonsynonymous SNV	OTOF:NM_194322:exon1:c.T68G:p.I23S	Auditory neuropathy, autosomal recessive, 1, Autosomal recessive;Deafness, autosomal recessive 9, Autosomal recessive	1	1503	18	0	0	18	0.00595238	.	.	.	57354	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.124	0.0158535464936	0.0039	0.00199681	0.0045	0.0011	0.0062	0	0.0008	0.0073	0.0038	0.0008	0.0036222	560	154602	rs76130130	0.0054	0.0053	0.0055	0.0052	0.0060	0.0053	0.0052	0.0059	0.0059	0.0009	0.0054	0.0156	0	0.0003	0.0047	0.0060	0.0052	0.0008	0.0034	0.0034	0.0036	0.0032	0.0049	0.0032	0.0031	0.0044	0.0043	0.0012	0	0.0035	0.0159	0	0.0006	0.0102	0.0049	0.0081	0.0006	.	.	.	.	.	.	0.001	0.07471	B	0.004	0.10090	B	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	.	.	.	.	.	-0.9881	0.33077	T	0.147	0.47237	T	7	0.004008025	0.00077	T	0.015854	0.36807	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.397047	0.02421	T	-0.339381	0.40414	T	0.0601066224668528	0.07185	T	0.340666	0.07366	T	.	.	.	.	.	.	.	.	-2.104	0.03601	T	.	.	0.116	0.23290	B	.	.	-0.009762	0.04217	1.032	0.94350857168412938	0.24700	0.01430	0.04814	N	AEFDGBI	.	.	.	-1.13911661019701	0.05961	0.2731642	-1.27474123502912	0.04774	0.2260218	0.999998944519784	0.74766	0.403107	0.06075	0	0.547309	0.14657	0	0.578056	0.29568	0	0.562822	0.20929	0	.	.	3.6	-4.45	0.03298	-0.168000	0.09914	-0.301000	0.10115	0.751000	0.87719	0.000000	0.06391	0.000000	0.08366	0.035000	0.13729	0.2124:0.5562:0.2314:0.0	6.536	0.21552	423	0.81269	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.008065	0.000000	0.006812	0.000000	0.000000	0.017241	0.018293	0.011364	0.1667	2902.04	36	chr2	26477826	.	A	C	2902.04	.	AC=2;AF=0.167;AN=12;DP=355;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;QD=30.23;SOR=1.313	GT:AD:DP:GQ:PL	1/1:0,96:96:99:2922,287,0	5	1	0	0
chr2	30787266	30787266	G	T	exonic	CAPN13	.	nonsynonymous SNV	CAPN13:NM_144575:exon2:c.C60A:p.D20E	.	423	1072	24	3	0	30	0.0137994	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.286	.	0.0008	0.00159744	0.0020	0.0002	0.0005	0.0001	0	0.0009	0.0013	0.0108	0.0014877	230	154602	rs186665118	0.0012	0.0012	0.0009	0.0015	0.0099	0.0012	0.0011	0.0094	0.0091	0.0001	0.0004	0.0038	0	0.0001	0.0057	0.0006	0.0013	0.0099	0.0008	0.0008	0.0007	0.0010	0.0064	0.0007	0.0007	0.0046	0.0040	0.0001	0	0.0008	0.0023	0.0002	9.409e-05	0.0102	0.0009	0.0019	0.0064	0.0	0.91255	D	0.009	0.66756	D	0.999	0.77913	D	0.997	0.86255	D	0.000000	0.84330	D	0.000000	0.992115	0.41558	D	2.8	0.81625	M	2.27	0.17431	T	-3.52	0.68412	D	0.389	0.43029	-0.9605	0.39087	T	0.123	0.42462	T	10	0.01113826	0.00245	T	.	.	.	0.286	0.60456	0.488	0.57257	0.433600339574	0.42977	0.13155275051212412	0.13080	0.371328992948	0.38632	0.471630513668	0.34905	T	0.137041	0.46976	T	-0.391703	0.02623	T	-0.328181	0.41672	T	0.0686771185556789	0.08464	T	0.665633	0.27494	T	0.68386453	0.77178	0.5323688	0.72979	0.68386453	0.77179	0.5323688	0.72980	-7.263	0.55932	T	.	.	0.51	0.65033	A	.	.	2.903207	0.38485	20.7	0.99652407849805069	0.77380	0.91318	0.53292	D	AEFBI	0.382236	0.46420	N	0.609953128654248	0.73804	6.026306	0.505260276834116	0.68344	5.207073	0.863488335061286	0.25272	0.638212	0.43195	0	0.59043	0.45803	0	0.653264	0.51672	0	0.564101	0.26826	0	.	.	5.91	4.09	0.47038	1.732000	0.37769	2.946000	0.35689	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.033000	0.13494	0.1434:0.0:0.8566:0.0	8.962	0.35013	814	0.42100	Peptidase C2, calpain, catalytic domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.006042	0.000000	0.002717	0.002924	0.000000	0.025862	0.006098	0.011364	0.08333	1448.83	33	chr2	30787266	.	G	T	1448.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.007;DP=291;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.38;ReadPosRankSum=-0.361;SOR=0.659	GT:AD:DP:GQ:PL	0/1:55,62:117:99:1459,0,1252	5	0	1	0
chr2	32820870	32820870	A	G	exonic	TTC27	.	nonsynonymous SNV	TTC27:NM_001193509:exon20:c.A2314G:p.I772V,TTC27:NM_017735:exon20:c.A2464G:p.I822V	.	435	1086	1	0	0	1	0.000460193	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.042	0.0048702711384	.	.	.	.	.	.	.	.	.	.	.	.	.	rs907617872	5.025e-06	5.473e-06	2.833e-06	7.278e-06	2.555e-05	2.09e-06	1.34e-06	4.24e-06	1.59e-06	0	0	0	0	0	0	2.792e-06	3.469e-05	2.555e-05	1.314e-05	1.313e-05	0	2.689e-05	4.825e-05	2.18e-06	8.2e-07	8e-06	2.99e-06	4.825e-05	0	0	0	0	0	0	0	0	0	0.696	0.04226	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.237566	0.15783	N	0.644413	1	0.08975	N	-0.555	0.02337	N	0.41	0.57100	T	0.22	0.04694	N	0.07	0.04307	-1.0253	0.21985	T	0.043	0.18368	T	10	0.04165733	0.02841	T	0.00487	0.12224	T	0.042	0.11227	0.351	0.34922	0.287603790349	0.28378	0.06873827000498209	0.06811	0.0358619067927	0.03783	0.311696350574	0.12163	T	0.06547	0.32696	T	-0.392491	0.02592	T	-0.673784	0.07368	T	0.0161702943356739	0.00392	T	0.568943	0.20238	T	0.017560966	0.00283	0.023974497	0.00412	0.017560966	0.00283	0.023974497	0.00412	-3.747	0.20015	T	.	.	0.060	0.00904	B	.	.	-0.080119	0.03761	0.784	0.65438051038591916	0.07772	0.02488	0.06964	N	AEFBHI	0.031463	0.03370	N	-1.23187684563576	0.04544	0.2053041	-1.18790537786683	0.06111	0.2931584	0.974136940653799	0.29516	0.706298	0.61202	0	0.709663	0.81188	0	0.659464	0.59346	0	0.613276	0.41899	0	.	.	4.99	-1.61	0.07951	0.107000	0.15212	0.233000	0.16214	-0.109000	0.15193	0.002000	0.15269	0.000000	0.08366	0.761000	0.36181	0.4704:0.1669:0.3627:0.0	4.932	0.13271	211	0.91797	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	436.83	38	chr2	32820870	.	A	G	436.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.354;DP=260;ExcessHet=0;FS=0.964;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=6.24;ReadPosRankSum=-1.127;SOR=0.945	GT:AD:DP:GQ:PL	0/1:46,24:70:99:447,0,1045	5	0	1	0
chr2	38931156	38931156	C	G	exonic	ARHGEF33	.	nonsynonymous SNV	ARHGEF33:NM_001145451:exon7:c.C410G:p.A137G,ARHGEF33:NM_001367623:exon7:c.C410G:p.A137G	.	433	1070	18	1	0	20	0.00925926	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.065	0.00493584759959	0.0044	0.00279553	0.0062	0.0028	0.0024	0	0.0025	0.0051	0.0042	0.0097	0.0018176	281	154602	rs199921991	0.0067	0.0064	0.0064	0.0069	0.0098	0.0066	0.0065	0.0093	0.0090	0.0010	0.0019	0.0017	0	0.0031	0.0060	0.0073	0.0061	0.0098	0.0044	0.0044	0.0044	0.0043	0.0087	0.0041	0.0040	0.0066	0.0063	0.0011	0	0.0032	0.0017	0.0002	0.0031	0.0136	0.0070	0.0047	0.0087	0.035	0.43708	D	0.122	0.35710	T	.	.	.	.	.	.	0.913594	0.07431	U	1.052340	1	0.08975	N	0.345	0.11182	N	0.86	0.46777	T	-0.83	0.22727	N	0.095	0.13769	-1.0834	0.06702	T	0.047	0.20116	T	10	0.0042744577	0.00086	T	0.004936	0.12411	T	0.065	0.18881	.	.	0.0884992946249	0.08302	0.29298477614894286	0.29211	.	.	0.408736348152	0.26282	T	.	.	.	-0.550632	0.00289	T	-0.552045	0.17130	T	0.00857455049892436	0.00105	T	0.775222	0.40690	T	.	.	.	.	.	.	.	.	-3.601	0.17871	T	.	.	0.089	0.12276	B	.;.	.;.	1.962825	0.24933	16.58	0.98561748407481908	0.42986	0.08240	0.14194	N	AEFI	0.094228	0.19055	N	-0.624829131922255	0.18200	0.943026	-0.522077609026466	0.21554	1.166563	0.594906135044483	0.21677	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	5.66	4.78	0.60666	1.387000	0.34037	3.918000	0.40452	0.594000	0.32500	0.012000	0.18695	0.835000	0.27248	0.942000	0.48361	0.0:0.8082:0.0:0.1918	6.345	0.20548	636	0.64483	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002500	0.005319	0.000000	0.000000	0.083333	0.000000	0.005882	0.000000	0.08333	424.83	34	chr2	38931156	.	C	G	424.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.141;DP=243;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=6.16;ReadPosRankSum=0.098;SOR=0.784	GT:AD:DP:GQ:PL	0/1:48,21:69:99:435,0,1287	5	0	1	0
chr2	43224930	43224930	-	GGGCGGCGGCGGCGTGCGCGACGTGGGGCTGTC	exonic	ZFP36L2	.	nonframeshift insertion	ZFP36L2:NM_006887:exon2:c.873_874insGACAGCCCCACGTCGCGCACGCCGCCGCCGCCC:p.P291_S292insDSPTSRTPPPP	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	222.8	34	chr2	43224930	.	A	AGGGCGGCGGCGGCGTGCGCGACGTGGGGCTGTC	222.8	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.431;DP=109;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=18.57;ReadPosRankSum=-0.55;SOR=1.329	GT:AD:DP:GQ:PL	0/1:6,6:12:99:233,0,235	5	0	1	0
chr2	43795896	43795896	G	A	exonic	DYNC2LI1	.	nonsynonymous SNV	DYNC2LI1:NM_001193464:exon7:c.G517A:p.E173K,DYNC2LI1:NM_001348912:exon7:c.G514A:p.E172K,DYNC2LI1:NM_001348913:exon7:c.G517A:p.E173K,DYNC2LI1:NM_016008:exon7:c.G514A:p.E172K	Short-rib throacic dysplasia 15 with polydactyly, Autosomal recessive	437	1082	2	1	0	4	0.00184502	.	.	.	719877	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.191	.	7.7e-05	0.00459265	0.0018	0.0002	0.0003	0.0001	0	1.501e-05	0.0011	0.0129	0.0016429	254	154602	rs115831320	0.0008	0.0008	0.0004	0.0011	0.0123	0.0007	0.0007	0.0117	0.0114	0.0001	0	0	2.523e-05	0	0.0005	9.908e-06	0.0009	0.0123	0.0005	0.0005	0.0003	0.0008	0.0154	0.0004	0.0004	0.0126	0.0115	7.219e-05	0	0	0	0.0002	0	0	0	0	0.0154	0.151	0.24564	T	0.196	0.30241	T	0.362	0.33945	B	0.11	0.31460	B	0.000000	0.84330	D	0.045171	0.999999	0.58761	D	2.765	0.80766	M	1.42	0.33189	T	-1.76	0.41618	N	0.711	0.71498	-0.4705	0.69708	T	0.360	0.72186	T	10	0.0066876113	0.00152	T	.	.	.	0.191	0.46948	.	.	0.297718772494	0.29385	0.5874629934433626	0.58676	0.0499660560402	0.05486	0.620398163795	0.55786	T	0.105077	0.41522	T	-0.128932	0.31669	T	0.0530528	0.73784	D	0.0853788571851265	0.10661	T	0.962704	0.86724	D	0.3747504	0.58934	0.27989653	0.53961	0.35726592	0.57628	0.26108697	0.51880	-4.761	0.34133	T	0.3441454435672304	0.44173	0.129	0.27553	B	.;.	.;.	4.586861	0.72512	25.8	0.99792004079429042	0.87750	0.98645	0.85080	D	AEFBI	0.920819	0.89335	D	0.514517959036952	0.67946	5.150218	0.585100380583896	0.73873	6.041922	0.99995998830196	0.48110	0.615465	0.37627	0	0.633656	0.55848	0	0.658983	0.55881	0	0.655142	0.61905	0	.	.	5.24	5.24	0.72863	7.641000	0.82513	11.815000	0.97057	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:1.0:0.0	19.001	0.92811	617	0.66297	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.08333	1272.83	46	chr2	43795896	.	G	A	1272.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.704;DP=324;ExcessHet=0;FS=3.441;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.17;ReadPosRankSum=0.845;SOR=0.477	GT:AD:DP:GQ:PL	0/1:57,57:114:99:1283,0,1396	5	0	1	0
chr2	43819997	43819997	T	C	exonic	ABCG5	.	nonsynonymous SNV	ABCG5:NM_022436:exon11:c.A1567G:p.I523V	Sitosterolemia, Autosomal recessive	0	1517	5	0	0	5	0.00164528	.	.	.	494188	ABCG5-related_disorder|Sitosterolemia_1|Cardiovascular_phenotype|Sitosterolemia|not_provided|not_specified	.|MONDO:MONDO:0020747,MedGen:C2749759,OMIM:210250|MedGen:CN230736|MONDO:MONDO:0008863,MedGen:C0342907,OMIM:PS210250,Orphanet:2882|MedGen:C3661900|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.036	0.0347197100427	0.0018	0.000399361	0.0017	0.0006	0.0003	0	0.0065	0.0020	0.0055	0.0009	0.0016623	257	154602	rs140899003	0.0019	0.0019	0.0019	0.0019	0.0020	0.0018	0.0018	0.0020	0.0019	0.0007	0.0003	0	2.519e-05	0.0056	0.0009	0.0020	0.0017	0.0009	0.0018	0.0018	0.0018	0.0018	0.0024	0.0016	0.0016	0.0021	0.0020	0.0009	0	0.0002	0	0	0.0064	0	0.0024	0	0.0012	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.002	0.06944	B	0.406145	0.04564	N	1.318130	1	0.08975	N	-0.64	0.02118	N	-0.57	0.71307	T	-0.12	0.08809	N	0.016	0.00203	-1.0460	0.15534	T	0.092	0.35228	T	10	0.011789948	0.00256	T	0.03472	0.55864	D	0.036	0.09122	.	.	0.388010793773	0.38412	0.3166676916906652	0.31579	0.0597340386739	0.06639	0.323835611343	0.14001	T	0.254714	0.62541	T	-0.592306	0.00162	T	-0.627887	0.10576	T	0.0029333322053172	0.00031	T	0.615039	0.23503	T	0.087925084	0.20493	0.04810037	0.07073	0.14205359	0.32707	0.047568806	0.06879	-3.241	0.12988	T	.	.	0.061	0.01126	B	.;.	.;.	-0.175130	0.03221	0.537	0.19121318880610083	0.00631	0.04139	0.09622	N	AEFBI	0.182952	0.31027	N	-1.42977902297355	0.02381	0.1050568	-1.39006962966123	0.03357	0.1564242	1.79854495195864E-4	0.05786	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	4.79	-2.43	0.06145	0.337000	0.19582	-0.870000	0.07107	-0.133000	0.13014	0.031000	0.20493	0.000000	0.08366	0.281000	0.24041	0.1329:0.3059:0.12:0.4411	1.990	0.03235	663	0.61610	ABC-2 type transporter;ABC-2 type transporter	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.000000	0.08333	692.83	34	chr2	43819997	.	T	C	692.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.41;DP=253;ExcessHet=0;FS=2.064;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.34;ReadPosRankSum=0.677;SOR=1.071	GT:AD:DP:GQ:PL	0/1:38,29:67:99:703,0,911	5	0	1	0
chr2	68866476	68866476	C	T	exonic	BMP10	.	nonsynonymous SNV	BMP10:NM_014482:exon2:c.G430A:p.E144K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.828	0.165851480792	.	.	1.654e-05	0	0	0	0	0	0	0.0001	1.29e-05	2	154602	rs750438622	3.421e-06	3.42e-06	2.723e-06	4.125e-06	5.797e-05	1e-06	7.3e-07	2.194e-05	1.43e-05	0	0	0	0	0	0	0	0	5.797e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.006	0.70582	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.52	0.73523	M	-0.73	0.73100	T	-3.25	0.65283	D	0.955	0.96416	0.227	0.86371	D	0.586	0.85149	D	10	0.96778953	0.96299	D	0.165851	0.84461	D	0.828	0.94541	0.837	0.94418	0.848838842824	0.84739	0.9377685575499655	0.93756	1.0664861996	0.76637	0.62247210741	0.56078	T	0.880769	0.97499	D	0.237348	0.77410	D	0.284685	0.87372	D	0.79102804609368	0.45757	D	0.939806	0.77272	D	0.8191248	0.85161	0.74604064	0.84989	0.8191248	0.85162	0.74604064	0.84990	-7.75	0.59354	D	.	.	0.668	0.71640	P	.	.	4.707895	0.75603	26.4	0.99932470607961787	0.99439	0.99657	0.98405	D	AEFBI	0.942832	0.94791	D	0.897757908978927	0.91649	10.99188	0.871631397603469	0.94212	12.58918	0.999999999999918	0.74766	0.516011	0.20929	0	0.610034	0.51514	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	5.83	5.83	0.93059	7.715000	0.83682	7.682000	0.65344	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.967000	0.53440	0.0:1.0:0.0:0.0	19.108	0.93286	829	0.39537	TGF-beta, propeptide	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	875.83	41	chr2	68866476	.	C	T	875.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.528;DP=300;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=7.82;ReadPosRankSum=-0.698;SOR=0.726	GT:AD:DP:GQ:PL	0/1:74,38:112:99:886,0,1909	5	0	1	0
chr2	70921265	70921265	C	A	exonic	VAX2	.	nonsynonymous SNV	VAX2:NM_012476:exon2:c.C415A:p.L139M	.	10	1450	61	1	0	63	0.0212622	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.843	.	0.0018	0.00599042	0.0045	0.0006	0.0012	0.0001	0.0005	0.0023	0.0080	0.0223	0.0040168	621	154602	rs56075602	0.0034	0.0034	0.0028	0.0040	0.0218	0.0033	0.0033	0.0209	0.0206	0.0003	0.0007	0.0008	2.528e-05	0.0005	0.0073	0.0024	0.0038	0.0218	0.0019	0.0019	0.0015	0.0022	0.0199	0.0017	0.0016	0.0167	0.0155	0.0005	0	0.0010	0.0009	0	0.0008	0.0102	0.0020	0.0009	0.0199	0.0	0.91255	D	0.005	0.72224	D	1.0	0.90584	D	1.0	0.97372	D	0.000001	0.62929	D	0.000000	0.999999	0.58761	D	3.28	0.90206	M	-4.79	0.98155	D	-1.87	0.43717	N	0.835	0.83066	1.084	0.99011	D	0.963	0.98797	D	10	0.012894422	0.00275	T	.	.	.	0.843	0.95101	.	.	0.994496113608	0.99443	0.48373213927814934	0.48293	0.291920001814	0.31603	0.739147901535	0.72847	T	0.708417	0.91663	D	0.072921	0.61203	D	0.349555	0.90297	D	0.0772881118984215	0.09637	T	0.910909	0.68443	D	0.5141345	0.67921	0.46391258	0.68881	0.5141345	0.67922	0.46391258	0.68881	-8.698	0.65733	D	.	.	0.829	0.78671	P	.	.	3.820018	0.55149	23.6	0.99643519408860837	0.76819	0.93748	0.59079	D	AEFBI	0.639393	0.61746	D	0.61188462827725	0.73923	6.046364	0.513243209958108	0.68880	5.281514	0.999775004554386	0.42865	0.554377	0.28877	0	0.547309	0.14657	0	0.547309	0.15389	0	0.567892	0.33627	0	.	.	5.43	3.63	0.40741	3.127000	0.50178	2.656000	0.33848	-0.172000	0.11096	1.000000	0.71638	1.000000	0.68203	0.875000	0.41745	0.0:0.8331:0.0:0.1669	9.833	0.40121	723	0.55174	Homeobox domain|Homeobox domain, metazoa|Helix-turn-helix motif|Homeobox, conserved site|Homeobox domain|Homeobox domain|Homeobox domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.006067	0.000000	0.005435	0.002924	0.000000	0.008621	0.006211	0.015152	0.08333	542.83	39	chr2	70921265	.	C	A	542.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.654;DP=270;ExcessHet=0;FS=1.014;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=8.22;ReadPosRankSum=0.907;SOR=0.522	GT:AD:DP:GQ:PL	0/1:42,24:66:99:553,0,1254	5	0	1	0
chr2	94876618	94876618	C	G	exonic	TEKT4	.	nonsynonymous SNV	TEKT4:NM_001286559:exon6:c.C611G:p.A204G,TEKT4:NM_144705:exon6:c.C1157G:p.A386G	.	432	224	865	0	1	866	0.658797	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.223	0.00662812679854	.	.	.	.	.	.	.	.	.	.	0.0002781	43	154602	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	0.55530	D	0.026	0.55759	D	0.986	0.61523	D	0.919	0.65474	D	0.000066	0.52346	D	0.125962	0.999996	0.58761	D	3.695	0.94570	H	3.93	0.03435	T	-2.62	0.56301	D	0.22	0.24634	-1.1093	0.03130	T	0.045	0.19478	T	10	0.34525645	0.51502	T	0.006628	0.17501	T	0.223	0.52023	0.627	0.76254	0.325533332567	0.32158	0.46843450301837664	0.46762	0.206080854031	0.23033	0.606577515602	0.53832	T	0.278563	0.65122	T	-0.0817015	0.39437	T	-0.355135	0.38615	T	0.993828952312469	0.84790	D	0.723528	0.33695	T	0.19832417	0.41730	0.4733884	0.69475	0.19832417	0.41730	0.4733884	0.69476	-7.747	0.59334	D	.	.	0.123	0.25656	B	.	.	3.340079	0.46023	22.2	0.99465032145053101	0.65996	0.46731	0.27825	N	AEFDGBI	0.300572	0.40933	N	0.291003033652373	0.55691	3.733242	0.0724350553839575	0.43168	2.624199	0.878548229655452	0.25568	0.517182	0.21443	0	0.588066	0.40923	0	0.478664	0.07449	1	0.604944	0.38103	0	.	.	2.43	2.43	0.28797	3.467000	0.52842	4.098000	0.41847	0.302000	0.18967	0.053000	0.21524	0.999000	0.35428	0.607000	0.31564	0.0:1.0:0.0:0.0	10.548	0.44261	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	5181.55	272	chr2	94876618	.	C	G	5181.55	.	AC=6;AF=0.5;AN=12;BaseQRankSum=0.193;DP=1614;ExcessHet=11.5949;FS=2.864;MLEAC=6;MLEAF=0.5;MQ=57.84;MQRankSum=-15.73;QD=3.22;ReadPosRankSum=-1.665;SOR=1.048	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:201,21:222:99:0|1:94876601_A_G:277,0,8377:94876601	0	0	6	0
chr2	94876632	94876632	C	T	exonic	TEKT4	.	nonsynonymous SNV	TEKT4:NM_001286559:exon6:c.C625T:p.R209C,TEKT4:NM_144705:exon6:c.C1171T:p.R391C	.	431	192	898	1	0	900	0.700935	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.180	0.00282003103799	.	.	0.0020	0.0044	0.0012	0.0058	0	0.0016	0.0025	0.0012	0.00073	19	26028	rs72817671	5.478e-06	9.577e-06	5.451e-06	5.507e-06	7.196e-06	2.36e-06	1.7e-06	3.1e-06	2.24e-06	0	0	0	0	0	0	7.196e-06	0	0	2.629e-05	2.627e-05	1.285e-05	4.036e-05	0.0002	8.14e-06	5.14e-06	4.88e-06	1.83e-06	2.414e-05	0	0	0	0	0	0	2.94e-05	0	0.0002	0.078	0.33923	T	0.094	0.39645	T	0.048	0.22112	B	0.017	0.18140	B	0.104906	0.19681	N	0.502966	0.998961	0.45775	D	2.51	0.73131	M	4.19	0.02716	T	-4.17	0.75456	D	0.327	0.36779	-0.9567	0.39789	T	0.009	0.03315	T	10	0.010076523	0.00226	T	0.00282	0.05898	T	0.180	0.45073	.	.	0.280181792013	0.27631	0.3283832477789456	0.32751	0.0418521914883	0.04503	0.566292226315	0.48154	T	0.161975	0.50645	T	-0.0952065	0.37216	T	-0.374534	0.36360	T	0.0299758459612643	0.01985	T	0.763824	0.39073	T	0.11296644	0.26684	0.099358894	0.23720	0.11296644	0.26684	0.099358894	0.23719	-7.259	0.55903	T	.	.	0.087	0.11414	B	.	.	2.884469	0.38179	20.7	0.9739629417086707	0.33750	0.03769	0.09084	N	AEFDGBI	0.024782	0.01590	N	-0.521150392773251	0.21396	1.135229	-0.512733045882346	0.21807	1.181449	3.92921537291663E-4	0.06820	0.517182	0.21443	0	0.588066	0.40923	0	0.478664	0.07449	1	0.604944	0.38103	0	.	.	2.43	1.05	0.19280	0.158000	0.16239	-0.300000	0.10122	0.302000	0.18967	0.046000	0.21249	0.000000	0.08366	0.706000	0.34326	0.5496:0.4504:0.0:0.0	6.095	0.19238	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.015609	0.035354	0.004076	0.005848	0.000000	0.008621	0.033537	0.018939	0.5	7558.55	298	chr2	94876632	.	C	T	7558.55	.	AC=6;AF=0.5;AN=12;BaseQRankSum=-3.508;DP=1828;ExcessHet=11.5949;FS=0.73;MLEAC=6;MLEAF=0.5;MQ=57.29;MQRankSum=-16.62;QD=4.26;ReadPosRankSum=-0.764;SOR=0.636	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:216,27:243:99:0|1:94876601_A_G:463,0,8958:94876601	0	0	6	0
chr2	94876671	94876671	A	G	exonic	TEKT4	.	nonsynonymous SNV	TEKT4:NM_001286559:exon6:c.A664G:p.I222V,TEKT4:NM_144705:exon6:c.A1210G:p.I404V	.	425	183	912	2	0	916	0.714509	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.186	0.00380674609401	.	.	.	.	.	.	.	.	.	.	0.000461	12	26028	rs142133592	3.422e-06	3.42e-06	4.086e-06	2.751e-06	3.597e-06	1e-06	7.3e-07	8.4e-07	5.7e-07	0	0	0	0	0	0	3.597e-06	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	0.53172	D	0.044	0.49663	D	0.967	0.56408	D	0.77	0.56828	P	0.000003	0.62929	D	0.059094	0.999993	0.58761	D	2.465	0.71551	M	3.8	0.03781	T	-0.93	0.24898	N	0.355	0.39659	-1.1543	0.00903	T	0.035	0.15030	T	10	0.2894683	0.46528	T	0.003807	0.08899	T	0.186	0.46104	.	.	0.0716867268079	0.06686	0.38576410498893454	0.38491	0.041304716601	0.04434	0.519737362862	0.41590	T	0.070106	0.33877	T	-0.102007	0.36092	T	-0.384302	0.35219	T	0.773092746734619	0.44626	D	0.518148	0.16784	T	0.11624111	0.27419	0.19920714	0.43791	0.11624111	0.27418	0.19920714	0.43790	-6.086	0.46993	T	.	.	0.080	0.07650	B	.	.	2.197892	0.28028	17.66	0.99758744490040718	0.84851	0.77619	0.38185	D	AEFDGBI	0.245424	0.36636	N	0.178097147237031	0.50149	3.207675	0.0117110839863197	0.40257	2.399706	0.274437957628434	0.18925	0.646311	0.45356	0	0.626922	0.53725	0	0.478664	0.07449	1	0.699875	0.68795	0	.	.	2.43	2.43	0.28797	2.475000	0.44821	2.894000	0.35409	0.373000	0.20310	0.967000	0.34061	1.000000	0.68203	0.500000	0.29017	1.0:0.0:0.0:0.0	8.354	0.31480	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	9541.55	352	chr2	94876671	.	A	G	9541.55	.	AC=6;AF=0.5;AN=12;BaseQRankSum=-4.803;DP=2062;ExcessHet=11.5949;FS=2.415;MLEAC=6;MLEAF=0.5;MQ=57.09;MQRankSum=-16.99;QD=4.66;ReadPosRankSum=3.98;SOR=0.556	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:257,34:291:99:0|1:94876671_A_G:654,0,10643:94876671	0	0	6	0
chr2	94876674	94876674	G	A	exonic	TEKT4	.	nonsynonymous SNV	TEKT4:NM_001286559:exon6:c.G667A:p.A223T,TEKT4:NM_144705:exon6:c.G1213A:p.A405T	.	426	179	915	2	0	919	0.719655	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.156	.	.	0.0115815	0.0037	0.0032	0.0047	0.0156	0.0008	0.0021	0.0047	0.0045	0.0058783	153	26028	rs75603622	0	2.052e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.101	0.30375	T	0.267	0.22561	T	0.003	0.11197	B	0.013	0.16460	B	0.039834	0.24126	N	0.433987	0.997095	0.22793	N	3.49	0.92661	M	4.15	0.02815	T	-1.68	0.40082	N	0.141	0.14054	-0.9396	0.42679	T	0.013	0.04985	T	10	0.0041491687	0.00082	T	.	.	.	0.156	0.40720	.	.	0.117506650769	0.11410	0.2704892680538193	0.26961	0.0299475133996	0.03088	0.393358677626	0.24142	T	0.056124	0.30199	T	-0.161562	0.26520	T	-0.469849	0.25532	T	0.0468978844343634	0.04948	T	0.689731	0.29897	T	0.042698704	0.06523	0.104346365	0.25059	0.042698704	0.06523	0.104346365	0.25058	-4.749	0.33991	T	.	.	0.081	0.08129	B	.	.	1.062693	0.14447	11.02	0.91920144370954304	0.21243	0.00957	0.03676	N	AEFDGBI	0.022506	0.01133	N	-1.17567910300973	0.05369	0.2445992	-1.31751710428587	0.04204	0.1977864	0.0017749666691999	0.08872	0.646311	0.45356	0	0.626922	0.53725	0	0.478664	0.07449	1	0.699875	0.68795	0	.	.	2.43	-2.21	0.06581	0.036000	0.13706	2.580000	0.33410	-0.673000	0.04287	0.001000	0.13787	0.571000	0.25572	0.394000	0.26647	0.1368:0.0:0.6998:0.1633	6.926	0.23596	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.012588	0.025253	0.002717	0.011696	0.000000	0.000000	0.021341	0.018939	0.5	10610.5	352	chr2	94876674	.	G	A	10610.5	.	AC=6;AF=0.5;AN=12;BaseQRankSum=-5.835;DP=2088;ExcessHet=11.5949;FS=2.361;MLEAC=6;MLEAF=0.5;MQ=57.13;MQRankSum=-18.24;QD=5.17;ReadPosRankSum=4.44;SOR=0.599	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:261,34:295:99:0|1:94876671_A_G:642,0,10757:94876671	0	0	6	0
chr2	95855390	95855390	T	C	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon84:c.A5969G:p.N1990S	.	445	446	628	3	0	634	0.415465	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.055	.	.	.	0.4725	0.4791	0.4803	0.4672	0.4880	0.4733	0.4644	0.4563	0.0898263	2338	26028	rs5005871	6.166e-06	8.414e-05	8.18e-06	4.132e-06	1.162e-05	2.9e-06	2.1e-06	.	.	0	0	0	0	0.0002	0	0	0	1.162e-05	8.21e-05	0.0014	8.013e-05	8.417e-05	0.0001	4.669e-05	3.648e-05	4.891e-05	3.155e-05	0.0001	0	0.0001	0	0	0.0003	0	3.041e-05	0	0	0.015	0.52492	D	0.034	0.52727	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	2.56	0.13673	T	-1.08	0.28084	N	0.033	0.00882	-0.9453	0.41764	T	0.020	0.08266	T	7	0.002589792	0.00039	T	.	.	.	0.055	0.15663	.	.	.	.	0.012446412429317067	0.01203	.	.	.	.	.	0.01031	0.09320	T	-0.355653	0.04382	T	-0.748648	0.03539	T	0.0108537478151246	0.00155	T	0.411359	0.10665	T	0.03944852	0.05450	0.041137557	0.04607	0.03944852	0.05449	0.041137557	0.04607	-4.418	0.29800	T	.	.	0.294	0.52491	B	.	.	0.798647	0.11694	8.273	0.5612225942636786	0.05485	0.02449	0.06892	N	AEFI	0.055298	0.10127	N	-1.21497369849486	0.04782	0.2165626	-1.43546346583335	0.02904	0.1344849	0.00116623651718095	0.08293	0.656854	0.48797	0	0.653731	0.59785	0	0.565031	0.19037	0	0.699908	0.69081	0	.	.	2.64	-5.28	0.02543	0.547000	0.23007	-2.563000	0.03605	-0.638000	0.04459	0.451000	0.26573	0.000000	0.08366	0.008000	0.08271	0.3266:0.1273:0.3289:0.2173	0.771	0.00959	256	0.89942	CCDC144C-like, coiled-coil domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	5188.55	176	chr2	95855390	.	T	C	5188.55	.	AC=6;AF=0.5;AN=12;BaseQRankSum=3.46;DP=1041;ExcessHet=11.5949;FS=19.931;MLEAC=6;MLEAF=0.5;MQ=55.8;MQRankSum=-9.318;QD=5.13;ReadPosRankSum=-4.855;SOR=1.975	GT:AD:DP:GQ:PL	0/1:117,36:153:99:793,0,3084	0	0	6	0
chr2	95855549	95855549	T	C	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon84:c.A5810G:p.N1937S	.	442	278	792	10	0	812	0.593567	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.027	.	.	.	0.4955	0.4792	0.5	0.4994	0.4998	0.4950	0.4987	0.4997	0.0874443	2276	26028	rs5005869	0	2.736e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	6.573e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.296	0.14694	T	0.507	0.10930	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	2.62	0.12988	T	-0.23	0.10656	N	0.021	0.00339	-0.9299	0.44153	T	0.011	0.04088	T	7	0.0016410053	0.00020	T	.	.	.	0.027	0.05988	.	.	.	.	0.0144060030913769	0.01397	.	.	.	.	.	0.002	0.01223	T	-0.411715	0.01936	T	-0.829176	0.01277	T	0.00502627076001595	0.00054	T	0.545645	0.18668	T	0.016608926	0.00209	0.02213417	0.00245	0.016608926	0.00209	0.02213417	0.00245	-4.21	0.26896	T	.	.	0.100	0.17060	B	.	.	-0.269215	0.02755	0.369	0.23312518342213173	0.00979	0.00866	0.03436	N	AEFI	0.023348	0.01289	N	-1.09098549269488	0.06808	0.3144812	-1.2104876692623	0.05741	0.2743807	9.86009276359309E-6	0.01202	0.706548	0.73137	0	0.724815	0.89359	0	0.565031	0.19037	0	0.636168	0.56350	0	.	.	2.11	-0.838	0.10218	0.492000	0.22144	-6.933000	0.01270	0.312000	0.19173	0.073000	0.22155	0.000000	0.08366	0.002000	0.04165	0.0:0.3513:0.0:0.6487	6.069	0.19105	256	0.89942	CCDC144C-like, coiled-coil domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	11748.5	251	chr2	95855549	.	T	C	11748.5	.	AC=6;AF=0.5;AN=12;BaseQRankSum=-1.045;DP=1322;ExcessHet=11.5949;FS=17.003;MLEAC=6;MLEAF=0.5;MQ=44.42;MQRankSum=-8.676;QD=9.11;ReadPosRankSum=-0.118;SOR=1.519	GT:AD:DP:GQ:PL	0/1:100,67:167:99:1574,0,2736	0	0	6	0
chr2	95855576	95855576	A	G	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon84:c.T5783C:p.I1928T	.	453	483	584	2	0	588	0.378378	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.016	.	.	.	0.0351	0.0714	0.0215	0.0369	0.0035	0.0411	0.0420	0.0134	0.0472952	1231	26028	rs5005868	0.0003	0.0003	0.0003	0.0003	0.0004	0.0003	0.0002	0.0003	0.0003	8.988e-05	0	0	0	0	0	0.0004	0.0001	0	0.0001	0.0001	0.0002	8.079e-05	0.0002	8.674e-05	7.264e-05	0.0001	9.902e-05	0.0001	0	0	0	0	0	0	0.0002	0	0	0.061	0.37118	T	0.076	0.42614	T	.	.	.	.	.	.	.	.	.	.	0.999854	0.20048	N	.	.	.	2.41	0.15492	T	-2.88	0.60507	D	0.111	0.09772	-1.0255	0.21919	T	0.039	0.16634	T	7	0.0018533468	0.00025	T	.	.	.	0.016	0.02506	.	.	.	.	0.019306205368593718	0.01884	.	.	.	.	.	0.00751	0.06912	T	-0.24663	0.14515	T	-0.592043	0.13489	T	0.0121704833066968	0.00195	T	0.355564	0.08068	T	0.13378952	0.31107	0.17544822	0.40011	0.13378952	0.31107	0.17544822	0.40010	-5.456	0.41455	T	.	.	0.137	0.29914	B	.	.	2.390189	0.30693	18.52	0.99376893328488414	0.61715	0.31313	0.24306	N	AEFI	0.047864	0.08107	N	-0.41657885139222	0.24888	1.347055	-0.520845466279587	0.21587	1.168515	1.17212494177188E-4	0.05269	0.706548	0.73137	0	0.724815	0.89359	0	0.565031	0.19037	0	0.636168	0.56350	0	.	.	2.11	2.11	0.26299	1.107000	0.30724	-0.057000	0.12472	0.351000	0.19951	0.797000	0.29682	0.000000	0.08366	0.192000	0.21661	1.0:0.0:0.0:0.0	8.115	0.30096	256	0.89942	CCDC144C-like, coiled-coil domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	8268.55	217	chr2	95855576	.	A	G	8268.55	.	AC=6;AF=0.5;AN=12;BaseQRankSum=-2.158;DP=1152;ExcessHet=11.5949;FS=28.673;MLEAC=6;MLEAF=0.5;MQ=46.51;MQRankSum=-8.188;QD=7.42;ReadPosRankSum=-2.232;SOR=2.278	GT:AD:DP:GQ:PL	0/1:110,39:149:99:943,0,3115	0	0	6	0
chr2	95855586	95855586	T	C	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon84:c.A5773G:p.M1925V	.	447	884	189	2	0	193	0.0984192	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.035	0.000861707961223	.	.	0.0008	0.0001	0.0009	0.0002	0.0002	0.0014	0	0.0001	3.84e-05	1	26028	rs201192250	0	6.84e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.149	0.24758	T	0.137	0.33894	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	2.59	0.13317	T	-2.2	0.49519	N	0.124	0.11626	-0.9610	0.38993	T	0.019	0.07800	T	7	0.011997491	0.00260	T	8.62E-4	0.00755	T	0.035	0.08770	.	.	0.0806252709748	0.07271	0.015437605054057783	0.01499	.	.	.	.	.	0.004928	0.04354	T	-0.342361	0.05226	T	-0.729554	0.04347	T	0.0291781713714631	0.01865	T	0.515548	0.16619	T	0.11939599	0.28113	0.13833767	0.33041	0.11939599	0.28113	0.13833767	0.33040	-3.711	0.19481	T	.	.	0.227	0.45954	B	.	.	0.618436	0.09867	6.630	0.39056500088029883	0.02672	0.17497	0.19862	N	AEFI	0.042474	0.06596	N	-0.697976344310311	0.16079	0.8160669	-0.828039099870389	0.13816	0.7187932	1.99158050687805E-5	0.02871	0.706548	0.73137	0	0.724815	0.89359	0	0.565031	0.19037	0	0.636168	0.56350	0	.	.	2.11	-2.48	0.06052	0.550000	0.23052	-0.005000	0.13145	0.312000	0.19173	0.994000	0.38300	0.000000	0.08366	0.117000	0.19042	0.3728:0.0:0.19:0.4372	3.442	0.07037	256	0.89942	CCDC144C-like, coiled-coil domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.4167	1047.61	209	chr2	95855586	.	T	C	1047.61	.	AC=5;AF=0.417;AN=12;BaseQRankSum=2.15;DP=1111;ExcessHet=6.1542;FS=21.641;MLEAC=5;MLEAF=0.417;MQ=47.41;MQRankSum=-5.213;QD=1.15;ReadPosRankSum=-1.6;SOR=2.589	GT:AD:DP:GQ:PL	0/1:129,15:144:95:95,0,5141	1	0	5	0
chr2	95855588	95855588	T	C	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon84:c.A5771G:p.Q1924R	.	449	591	480	2	0	484	0.290516	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.035	.	.	.	0.0306	0.0658	0.0188	0.0337	0.0028	0.0359	0.0324	0.0111	0.0379591	988	26028	rs5005867	0	6.84e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.17	0.22833	T	0.311	0.19660	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	2.4	0.15608	T	-2.4	0.52776	N	0.054	0.02559	-0.9776	0.35548	T	0.023	0.09968	T	7	0.004524857	0.00093	T	.	.	.	0.035	0.08770	.	.	.	.	0.014319341971499302	0.01388	.	.	.	.	.	0.034191	0.23222	T	-0.342862	0.05192	T	-0.730274	0.04316	T	0.0218009842485075	0.00887	T	0.374863	0.08927	T	0.052712794	0.09870	0.11261669	0.27173	0.052712794	0.09870	0.11261669	0.27172	-5.986	0.46163	T	.	.	0.14	0.30686	B	.	.	1.453026	0.18743	13.90	0.88078949201552847	0.17700	0.32438	0.24585	N	AEFI	0.045481	0.07443	N	-0.542064366665841	0.20732	1.095167	-0.636773118221108	0.18551	0.9915041	9.62839158373236E-6	0.01202	0.706548	0.73137	0	0.724815	0.89359	0	0.565031	0.19037	0	0.636168	0.56350	0	.	.	2.11	0.82	0.17932	2.106000	0.41459	0.119000	0.14890	-0.667000	0.04321	1.000000	0.71638	0.000000	0.08366	0.084000	0.17470	0.0:0.1714:0.2923:0.5363	2.541	0.04438	256	0.89942	CCDC144C-like, coiled-coil domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	6207.55	208	chr2	95855588	.	T	C	6207.55	.	AC=6;AF=0.5;AN=12;BaseQRankSum=-2.403;DP=1106;ExcessHet=11.5949;FS=38.206;MLEAC=6;MLEAF=0.5;MQ=47.77;MQRankSum=-7.427;QD=5.73;ReadPosRankSum=-2.553;SOR=2.683	GT:AD:DP:GQ:PL	0/1:111,31:142:99:727,0,3126	0	0	6	0
chr2	95859895	95859895	T	C	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon82:c.A4960G:p.T1654A	.	951	467	84	20	0	124	0.117202	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.035	.	.	.	0.4444	0.4790	0.4373	0.4517	0.4253	0.4197	0.4345	0.4715	0.0150223	391	26028	rs75198192	4.293e-06	9.85e-05	5.648e-06	2.901e-06	2.806e-05	1.54e-06	1.02e-06	.	.	0	2.806e-05	0	0	4.058e-05	0	0	5.178e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.071	0.35165	T	0.222	0.25748	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	0.999981	0.18198	N	.	.	.	2.33	0.16492	T	-0.27	0.11366	N	0.03	0.00717	-0.9918	0.32141	T	0.020	0.08593	T	9	0.0021876395	0.00032	T	.	.	.	0.035	0.08770	.	.	.	.	0.004573925157677656	0.00430	.	.	0.524144649506	0.42211	T	0.007589	0.06987	T	-0.275691	0.11129	T	-0.633787	0.10130	T	0.00243692789656227	0.00025	T	0.119888	0.00926	T	0.026656736	0.01750	0.04326469	0.05342	0.026656736	0.01750	0.04326469	0.05342	-4.496	0.30836	T	.	.	0.118	0.24260	B	.	.	1.595165	0.20400	14.73	0.67616785214816144	0.08408	0.26935	0.23135	N	AEFI	0.048105	0.08173	N	-0.927352117069161	0.10206	0.4865986	-0.909991846583639	0.11858	0.6066753	7.95608252575671E-5	0.04552	0.632932	0.41330	0	0.666794	0.63253	0	0.657636	0.52715	0	0.755437	0.99637	0	.	.	1.85	1.85	0.24418	0.945000	0.28654	2.286000	0.31928	-0.387000	0.05364	0.808000	0.29825	0.078000	0.22336	0.001000	0.02609	0.0:0.0:0.0:1.0	7.648	0.27501	256	0.89942	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.3333	3009.96	69	chr2	95859895	.	T	C	3009.96	.	AC=4;AF=0.333;AN=12;BaseQRankSum=0.169;DP=479;ExcessHet=3.1439;FS=13.078;MLEAC=4;MLEAF=0.333;MQ=57.21;MQRankSum=-0.682;QD=9.84;ReadPosRankSum=-0.057;SOR=0.307	GT:AD:DP:GQ:PL	0/1:45,44:89:99:1692,0,1717	2	0	4	0
chr2	95859969	95859969	-	T	exonic	ANKRD36C	.	frameshift insertion	ANKRD36C:NM_001310154:exon82:c.4885_4886insA:p.L1629Hfs*4	.	952	362	155	53	0	261	0.264975	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4228	0.4631	0.4656	0.4778	0.3159	0.4147	0.4099	0.4349	0.0494083	1286	26028	rs111957693	5.008e-06	5.814e-05	5.648e-06	4.351e-06	.	2.08e-06	1.34e-06	.	.	0	0	0	0	0.0001	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	8297.51	109	chr2	95859969	.	A	AT	8297.51	.	AC=6;AF=0.5;AN=12;BaseQRankSum=-0.864;DP=746;ExcessHet=11.5949;FS=3.529;MLEAC=6;MLEAF=0.5;MQ=58.67;MQRankSum=-7.716;QD=11.24;ReadPosRankSum=0.225;SOR=0.849	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:81,64:145:99:0|1:95859969_A_AT:2435,0,3188:95859969	0	0	6	0
chr2	95859970	95859970	G	T	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon82:c.C4885A:p.L1629M	.	957	355	157	53	0	263	0.270298	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.028	.	.	.	0.4545	0.4802	0.4743	0.4840	0.3659	0.4484	0.4515	0.4666	0.0009221	24	26028	rs77057279	9.318e-06	0.0001	7.073e-06	1.162e-05	.	5.2e-06	4.01e-06	.	.	0	0	0	0	0.0003	0	0	0	0	0	2.631e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.911	0.02361	T	0.243	0.24193	T	0.053	0.22573	B	0.021	0.19346	B	.	.	.	.	0.994063	0.23594	N	.	.	.	2.42	0.15376	T	1.44	0.00794	N	0.079	0.05414	-0.9807	0.34840	T	0.008	0.02801	T	9	0.0015536547	0.00018	T	.	.	.	0.028	0.06331	.	.	.	.	0.0034729447233706272	0.00324	.	.	0.598522663116	0.52695	T	0.002815	0.02207	T	-0.296982	0.08946	T	-0.664371	0.07975	T	0.000298728606434334	0.00002	T	0.227477	0.03026	T	0.060971648	0.12573	0.043196924	0.05321	0.060971648	0.12573	0.043196924	0.05321	-3.51	0.16572	T	.	.	0.079	0.07224	B	.	.	-0.617261	0.01525	0.098	0.057558437599456599	0.00015	0.02138	0.06301	N	AEFI	0.027961	0.02376	N	-1.81372414748207	0.00512	0.02205084	-1.77419214230889	0.00845	0.0377715	9.60209616443048E-5	0.04910	0.632932	0.41330	0	0.666794	0.63253	0	0.565031	0.19037	0	0.755437	0.99637	0	.	.	1.85	-3.7	0.04150	-1.387000	0.02641	-5.763000	0.01604	-0.394000	0.05329	0.245000	0.24799	0.000000	0.08366	0.008000	0.08271	0.2827:0.0:0.3453:0.372	3.712	0.07953	256	0.89942	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	8294.55	109	chr2	95859970	.	G	T	8294.55	.	AC=6;AF=0.5;AN=12;BaseQRankSum=-1.035;DP=742;ExcessHet=11.5949;FS=3.529;MLEAC=6;MLEAF=0.5;MQ=58.67;MQRankSum=-7.716;QD=11.22;ReadPosRankSum=0.118;SOR=0.852	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:81,64:145:99:0|1:95859969_A_AT:2435,0,3188:95859969	0	0	6	0
chr2	95859975	95859975	C	T	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon82:c.G4880A:p.R1627Q	.	957	354	158	53	0	264	0.271605	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.036	.	.	.	0.4301	0.4670	0.4743	0.4733	0.3036	0.4236	0.4062	0.4476	0.00073	19	26028	rs77757712	2.22e-05	6.841e-05	2.827e-05	1.597e-05	8.413e-05	1.591e-05	1.386e-05	2.23e-05	1.218e-05	3.172e-05	8.413e-05	0	0	6.31e-05	0	1.855e-05	1.726e-05	3.789e-05	1.316e-05	1.971e-05	1.286e-05	1.348e-05	6.563e-05	2.19e-06	8.2e-07	.	.	0	0	6.563e-05	0	0	0	0	1.471e-05	0	0	0.162	0.23541	T	0.485	0.11725	T	0.055	0.22733	B	0.007	0.12992	B	.	.	.	.	0.999977	0.18612	N	.	.	.	2.42	0.15376	T	-0.1	0.08495	N	0.04	0.01347	-0.9474	0.41414	T	0.010	0.03492	T	9	0.0016048849	0.00019	T	.	.	.	0.036	0.09122	.	.	.	.	0.007547077727271438	0.00720	.	.	0.508793115616	0.40052	T	0.002443	0.01836	T	-0.329346	0.06161	T	-0.710859	0.05250	T	0.00527709899755481	0.00057	T	0.480052	0.14488	T	0.032344773	0.03241	0.03586384	0.02919	0.032344773	0.03241	0.03586384	0.02918	-4.415	0.29759	T	.	.	0.069	0.03231	B	.	.	0.983069	0.13607	10.14	0.66913885358475289	0.08199	0.01513	0.05000	N	AEFI	0.023495	0.01318	N	-1.4910599935179	0.01913	0.08394092	-1.36789013472358	0.03599	0.1682304	1.02737162787131E-5	0.01202	0.632932	0.41330	0	0.666794	0.63253	0	0.565031	0.19037	0	0.755437	0.99637	0	.	.	1.85	0.634	0.16889	0.827000	0.27075	-0.579000	0.08386	-0.398000	0.05312	0.991000	0.37257	0.000000	0.08366	0.005000	0.06747	0.0:0.1617:0.0:0.8383	5.605	0.16657	256	0.89942	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	8252.55	108	chr2	95859975	.	C	T	8252.55	.	AC=6;AF=0.5;AN=12;BaseQRankSum=-1.016;DP=744;ExcessHet=11.5949;FS=2.673;MLEAC=6;MLEAF=0.5;MQ=58.65;MQRankSum=-7.931;QD=11.18;ReadPosRankSum=-0.019;SOR=0.881	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:82,63:145:99:0|1:95859969_A_AT:2399,0,3213:95859969	0	0	6	0
chr2	95859988	95859988	T	C	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon82:c.A4867G:p.R1623G	.	946	377	143	56	0	255	0.252725	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.031	.	.	.	0.3985	0.4181	0.4615	0.4624	0.2601	0.3839	0.3829	0.4293	0.0005763	15	26028	rs78585559	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.034	0.44029	D	0.037	0.51737	D	0.618	0.39878	P	0.296	0.40883	B	.	.	.	.	1	0.08975	P	.	.	.	2.35	0.16217	T	-2.17	0.49018	N	0.036	0.01068	-1.0403	0.17223	T	0.022	0.09284	T	8	0.0021658242	0.00031	T	.	.	.	0.031	0.07369	.	.	.	.	0.01648333609809802	0.01603	.	.	0.464800566435	0.33968	T	0.014368	0.12243	T	-0.283116	0.10340	T	-0.644453	0.09348	T	0.0103390599998185	0.00141	T	0.690331	0.29972	T	0.11867667	0.27957	0.10622412	0.25550	0.11867667	0.27957	0.10622412	0.25549	-4.221	0.27055	T	.	.	0.167	0.36712	B	.	.	1.395340	0.18086	13.54	0.66348352263891242	0.08032	0.01091	0.04015	N	AEFI	0.037962	0.05300	N	-0.829849498643622	0.12552	0.6125249	-0.95288899799542	0.10856	0.5494909	1.69149918813486E-5	0.02871	0.632932	0.41330	0	0.666794	0.63253	0	0.565031	0.19037	0	0.755437	0.99637	0	.	.	1.85	1.85	0.24418	-0.401000	0.07293	-0.372000	0.09600	0.443000	0.21123	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.2013:0.0:0.7987	3.593	0.07545	256	0.89942	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	7445.55	104	chr2	95859988	.	T	C	7445.55	.	AC=6;AF=0.5;AN=12;BaseQRankSum=-0.378;DP=747;ExcessHet=11.5949;FS=1.934;MLEAC=6;MLEAF=0.5;MQ=58.63;MQRankSum=-8.029;QD=10.06;ReadPosRankSum=0.4;SOR=0.896	GT:AD:DP:GQ:PL	0/1:87,59:146:99:2075,0,2159	0	0	6	0
chr2	95860002	95860002	T	A	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon82:c.A4853T:p.H1618L	.	945	422	104	51	0	206	0.19619	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.098	.	.	.	0.2918	0.3574	0.4353	0.4062	0.1258	0.3207	0.2719	0.2565	0.0003842	10	26028	rs76379993	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.73	0.05165	T	0.898	0.49442	P	0.775	0.57058	P	.	.	.	.	1	0.08975	P	.	.	.	2.2	0.18570	T	-7.35	0.94620	D	0.157	0.16308	-0.9983	0.30395	T	0.066	0.27087	T	8	0.0024163425	0.00036	T	.	.	.	0.098	0.28162	.	.	.	.	0.011885642134936694	0.01148	.	.	0.603820681572	0.53443	T	0.17093	0.51885	T	-0.130986	0.31337	T	-0.425929	0.30399	T	0.0896707485037565	0.11179	T	0.667933	0.27701	T	0.5114563	0.67764	0.4059057	0.64978	0.5114563	0.67765	0.4059057	0.64978	-5.063	0.37516	T	.	.	0.223	0.45409	B	.	.	1.545032	0.19810	14.45	0.68803435199818186	0.08772	0.02181	0.06385	N	AEFI	0.047683	0.08056	N	-0.541266882709805	0.20758	1.096673	-0.816850501380551	0.14087	0.7342697	9.81280304122205E-6	0.01202	0.632932	0.41330	0	0.666794	0.63253	0	0.565031	0.19037	0	0.755437	0.99637	0	.	.	1.85	-0.873	0.10096	1.014000	0.29553	0.760000	0.21307	0.443000	0.21123	0.026000	0.20160	0.002000	0.18203	0.026000	0.12556	0.2602:0.3442:0.0:0.3955	2.065	0.03383	256	0.89942	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	5634.55	98	chr2	95860002	.	T	A	5634.55	.	AC=6;AF=0.5;AN=12;BaseQRankSum=0.934;DP=709;ExcessHet=11.5949;FS=2.843;MLEAC=6;MLEAF=0.5;MQ=58.62;MQRankSum=-7.188;QD=8.07;ReadPosRankSum=-0.426;SOR=0.958	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:97,43:140:99:.:.:841,0,3750:.	0	0	6	0
chr2	95860007	95860007	A	T	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon82:c.T4848A:p.D1616E	.	965	351	153	53	0	259	0.269511	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.058	.	.	.	0.3716	0.3968	0.4638	0.4468	0.1996	0.3624	0.3348	0.3997	0.000461	12	26028	rs77658288	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	0.42199	D	0.887	0.03161	T	0.886	0.48745	P	0.685	0.53610	P	.	.	.	.	1	0.08975	P	.	.	.	2.36	0.16089	T	0.87	0.01688	N	0.018	0.00252	-1.0311	0.20099	T	0.037	0.16116	T	8	0.0017204583	0.00022	T	.	.	.	0.058	0.16647	0.102	0.01589	.	.	0.0016336715894167176	0.00151	.	.	0.627778291702	0.56830	T	0.00182	0.01242	T	-0.339353	0.05432	T	-0.725233	0.04547	T	0.0127801602154166	0.00217	T	0.50325	0.15827	T	0.05346143	0.10121	0.066788726	0.13731	0.05346143	0.10121	0.066788726	0.13730	-4.052	0.24579	T	.	.	0.276	0.50970	B	.	.	0.679021	0.10477	7.192	0.92075444711269228	0.21422	0.00300	0.01598	N	AEFI	0.017840	0.00496	N	-0.631580650889932	0.18000	0.9310604	-0.811362641984672	0.14221	0.7419123	9.14715249298931E-6	0.01202	0.632932	0.41330	0	0.666794	0.63253	0	0.565031	0.19037	0	0.755437	0.99637	0	.	.	1.85	0.608	0.16746	-0.101000	0.10943	-4.154000	0.02312	0.333000	0.19617	0.036000	0.20778	0.000000	0.08366	0.028000	0.12845	0.5619:0.0:0.0:0.4381	4.768	0.12514	256	0.89942	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	6525.55	97	chr2	95860007	.	A	T	6525.55	.	AC=6;AF=0.5;AN=12;BaseQRankSum=1.02;DP=689;ExcessHet=11.5949;FS=2.838;MLEAC=6;MLEAF=0.5;MQ=58.55;MQRankSum=-7.349;QD=9.51;ReadPosRankSum=-0.529;SOR=0.935	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:85,51:136:99:0|1:95860007_A_T:1843,0,3416:95860007	0	0	6	0
chr2	95860020	95860020	G	A	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon82:c.C4835T:p.T1612I	.	975	346	149	52	0	253	0.267725	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.071	.	.	.	0.3429	0.4093	0.4357	0.4212	0.1584	0.3445	0.2982	0.3516	0.0003842	10	26028	rs78780931	7.168e-07	5.473e-06	1.415e-06	0	9.285e-07	0	0	.	.	0	0	0	0	0	0	9.285e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	0.999979	0.18612	P	.	.	.	2.38	0.15843	T	3.02	0.00138	N	0.054	0.02559	-0.9370	0.43088	T	0.010	0.03627	T	8	0.0017494261	0.00022	T	.	.	.	0.071	0.20720	.	.	.	.	0.0033875092255602627	0.00316	.	.	0.597990691662	0.52621	T	2.31E-4	0.00048	T	-0.282657	0.10387	T	-0.643793	0.09394	T	0.00465201252591891	0.00050	T	0.257674	0.04066	T	0.036191136	0.04406	0.044979855	0.05950	0.036191136	0.04405	0.044979855	0.05949	-0.577	0.00632	T	.	.	0.124	0.26042	B	.	.	0.379084	0.07510	4.156	0.096937678722497284	0.00105	0.00352	0.01813	N	AEFI	0.013252	0.00170	N	-1.41969246255212	0.02466	0.1089284	-1.29164163050699	0.04543	0.2145151	1.02751695127801E-5	0.01202	0.632932	0.41330	0	0.666794	0.63253	0	0.565031	0.19037	0	0.755437	0.99637	0	.	.	1.85	0.635	0.16895	2.080000	0.41211	-0.435000	0.09196	-1.105000	0.01501	0.995000	0.38783	0.000000	0.08366	0.000000	0.00833	0.8383:0.0:0.1617:0.0	5.605	0.16657	256	0.89942	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	5563.55	84	chr2	95860020	.	G	A	5563.55	.	AC=6;AF=0.5;AN=12;BaseQRankSum=0.329;DP=643;ExcessHet=11.5949;FS=2.962;MLEAC=6;MLEAF=0.5;MQ=58.6;MQRankSum=-7.104;QD=8.82;ReadPosRankSum=-0.538;SOR=1.001	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:81,42:123:99:0|1:95860020_G_A:1520,0,3256:95860020	0	0	6	0
chr2	95860023	95860023	A	C	exonic	ANKRD36C	.	stopgain	ANKRD36C:NM_001310154:exon82:c.T4832G:p.L1611X	.	975	348	147	52	0	251	0.265048	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3459	0.4102	0.4378	0.4239	0.1587	0.3478	0.2957	0.3558	0.0004226	11	26028	rs74941794	0	6.841e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.64576e-15	0.58761	P	.	.	.	.	.	.	.	.	.	0.039	0.01274	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.464733	0.93127	D	0.429781	0.93041	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive	High	5.440231	0.90928	32	0.96148246009950666	0.28859	0.36954	0.25651	N	AEFI	0.088588	0.17958	N	-0.131946649004641	0.36007	2.075519	-0.471627380579264	0.22940	1.248476	9.52799824835323E-6	0.01202	0.632932	0.41330	0	0.666794	0.63253	0	0.565031	0.19037	0	0.755437	0.99637	0	.	.	1.85	-0.698	0.10713	0.445000	0.21392	-0.434000	0.09203	-1.250000	0.01303	0.993000	0.37899	0.000000	0.08366	0.002000	0.04165	0.6458:0.0:0.3542:0.0	5.748	0.17400	256	0.89942	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	5356.55	83	chr2	95860023	.	A	C	5356.55	.	AC=6;AF=0.5;AN=12;BaseQRankSum=2.07;DP=627;ExcessHet=11.5949;FS=3.964;MLEAC=6;MLEAF=0.5;MQ=58.57;MQRankSum=-7.249;QD=8.57;ReadPosRankSum=-0.327;SOR=1.08	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:81,41:122:99:0|1:95860020_G_A:1478,0,3259:95860020	0	0	6	0
chr2	95860046	95860046	C	A	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon82:c.G4809T:p.K1603N	.	996	348	132	46	0	224	0.243478	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.027	.	.	.	0.2995	0.4068	0.4155	0.3993	0.0859	0.3214	0.2411	0.2818	0.0869064	2262	26028	rs79908880	2.159e-06	4.789e-06	1.421e-06	2.916e-06	3.19e-05	5.8e-07	1.6e-07	3.1e-07	1.2e-07	3.19e-05	0	0	0	0	0	1.863e-06	0	0	1.972e-05	1.97e-05	2.57e-05	1.346e-05	2.94e-05	5.24e-06	2.45e-06	4.88e-06	1.83e-06	2.414e-05	0	0	0	0	0	0	2.94e-05	0	0	0.767	0.03412	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	P	.	.	.	2.33	0.16492	T	1.87	0.00472	N	0.043	0.01577	-0.9644	0.38330	T	0.008	0.02842	T	8	0.0017981231	0.00024	T	.	.	.	0.027	0.05988	0.388	0.40951	.	.	0.009782736317217211	0.00940	.	.	0.538346886635	0.44213	T	0.002324	0.01720	T	-0.380822	0.03079	T	-0.784801	0.02311	T	0.00124196999210505	0.00012	T	0.263374	0.04265	T	0.04313465	0.06669	0.036235157	0.03030	0.04313465	0.06669	0.036235157	0.03030	-0.766	0.00774	T	.	.	0.068	0.02639	B	.	.	-0.084979	0.03731	0.770	0.10447506845337422	0.00132	0.00336	0.01748	N	AEFI	0.012014	0.00120	N	-2.28437407882715	0.00049	0.002118662	-2.21407410585182	0.00104	0.004576006	2.08611004689468E-5	0.02871	0.632932	0.41330	0	0.666794	0.63253	0	0.657636	0.52715	0	0.755437	0.99637	0	.	.	1.85	-2.51	0.05996	1.202000	0.31878	0.062000	0.14145	-1.184000	0.01383	0.735000	0.28974	0.000000	0.08366	0.000000	0.00833	0.4851:0.195:0.1314:0.1885	0.839	0.01073	256	0.89942	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	3318.55	67	chr2	95860046	.	C	A	3318.55	.	AC=6;AF=0.5;AN=12;BaseQRankSum=-0.515;DP=493;ExcessHet=11.5949;FS=6.844;MLEAC=6;MLEAF=0.5;MQ=58.18;MQRankSum=-7.747;QD=6.87;ReadPosRankSum=-1.292;SOR=1.31	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:60,24:84:99:0|1:95860007_A_T:827,0,2427:95860007	0	0	6	0
chr2	95927222	95927222	-	AT	exonic	ANKRD36C	.	frameshift insertion	ANKRD36C:NM_001310154:exon28:c.1930_1931insAT:p.S644Yfs*24	.	585	748	183	6	0	195	0.115316	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0012	0.0015	0.0011	0.0019	0.0005	0.0013	0	0.0007	0.0009605	25	26028	rs745741068	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	3049.51	101	chr2	95927222	.	G	GAT	3049.51	.	AC=6;AF=0.5;AN=12;BaseQRankSum=2.34;DP=575;ExcessHet=11.5949;FS=33.996;MLEAC=6;MLEAF=0.5;MQ=54.76;MQRankSum=-7.373;QD=5.36;ReadPosRankSum=-3.339;SOR=3.709	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:66,20:86:99:0|1:95927222_G_GAT:641,0,2710:95927222	0	0	6	0
chr2	95927227	95927228	TT	-	exonic	ANKRD36C	.	frameshift deletion	ANKRD36C:NM_001310154:exon28:c.1925_1926del:p.Q642Pfs*18	.	630	694	193	5	0	203	0.127593	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0012	0.0015	0.0011	0.0019	0.0005	0.0013	0	0.0007	0.0009605	25	26028	rs772059065	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	4621.51	108	chr2	95927226	.	GTT	G	4621.51	.	AC=6;AF=0.5;AN=12;BaseQRankSum=2.93;DP=631;ExcessHet=11.5949;FS=10.097;MLEAC=6;MLEAF=0.5;MQ=54.39;MQRankSum=-8.138;QD=7.34;ReadPosRankSum=-3.294;SOR=1.508	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:69,31:100:99:0|1:95927222_G_GAT:1094,0,2803:95927222	0	0	6	0
chr2	95927234	95927234	T	C	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon28:c.A1919G:p.E640G	.	638	673	206	5	0	216	0.138284	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.149	0.00618498349042	.	.	0.0012	0.0016	0.0011	0.0019	0.0005	0.0013	0	0.0007	3.84e-05	1	26028	rs758839836	6.856e-07	6.84e-07	1.364e-06	0	9.007e-07	0	0	.	.	0	0	0	0	0	0	9.007e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.114	0.36765	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	-1.11	0.77466	T	-0.39	0.13611	N	0.176	0.18920	-0.5261	0.67688	T	0.427	0.77022	T	6	0.03557104	0.01812	T	0.006185	0.16200	T	0.149	0.39377	.	.	0.42989457901	0.42608	0.007308549639332476	0.00696	.	.	.	.	.	0.003258	0.02667	T	-0.0875605	0.38480	T	-0.363551	0.37640	T	0.0366356248361039	0.03091	T	0.168983	0.05631	T	0.062684655	0.13118	0.16541363	0.38267	0.062684655	0.13117	0.16541363	0.38267	-4.184	0.26519	T	.	.	0.130	0.27998	B	.;.	.;.	2.279132	0.29141	18.03	0.9497533031407277	0.25908	0.01715	0.05438	N	AEFBI	0.033788	0.04074	N	-0.603271583609637	0.18846	0.9816864	-0.856632057968517	0.13128	0.6793434	1.06943366512053E-5	0.01202	0.475973	0.10046	0	0.601575	0.49859	0	0.547309	0.15389	0	0.491896	0.07777	0	.	.	0.578	0.578	0.16575	1.624000	0.36629	-0.363000	0.09661	0.319000	0.19345	0.008000	0.17931	0.000000	0.08366	0.003000	0.05239	.	.	.	253	0.90069	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	6313.55	116	chr2	95927234	.	T	C	6313.55	.	AC=6;AF=0.5;AN=12;BaseQRankSum=-1.561;DP=697;ExcessHet=11.5949;FS=6.255;MLEAC=6;MLEAF=0.5;MQ=54.19;MQRankSum=-8.821;QD=9.07;ReadPosRankSum=-4.26;SOR=1.25	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:75,43:118:99:0|1:95927222_G_GAT:1580,0,3020:95927222	0	0	6	0
chr2	95927252	95927252	A	G	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon28:c.T1901C:p.I634T	.	674	623	216	9	0	234	0.158108	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.194	.	.	.	0.0825	0.1113	0.0839	0.1182	0.1114	0.0793	0.0608	0.0544	3.84e-05	1	26028	rs111976783	2.057e-06	2.052e-06	2.729e-06	1.378e-06	6.728e-05	5.5e-07	1.5e-07	1.784e-05	8.95e-06	0	6.728e-05	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.126	0.27194	T	0.194	0.28120	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	-1.08	0.77078	T	-0.99	0.26200	N	0.069	0.17278	-0.8026	0.54991	T	0.326	0.69410	T	6	0.0039491355	0.00076	T	.	.	.	0.194	0.47447	.	.	.	.	0.0049901546743311475	0.00471	.	.	.	.	.	0.003965	0.03373	T	-0.0895306	0.38154	T	-0.366381	0.37311	T	0.00782888568937778	0.00092	T	0.441356	0.12522	T	0.056561366	0.11145	0.12979923	0.31201	0.056561366	0.11144	0.12979923	0.31200	-5.925	0.50163	T	.	.	0.180	0.48715	B	.;.	.;.	1.251398	0.16483	12.57	0.92565402419728915	0.22018	0.00377	0.01912	N	AEFBI	0.031745	0.03455	N	-0.892394221719867	0.11022	0.5297326	-1.14952198102138	0.06776	0.3273419	1.22801436175958E-5	0.02871	0.475973	0.10046	0	0.601575	0.49859	0	0.547309	0.15389	0	0.491896	0.07777	0	.	.	0.578	-1.16	0.09181	0.550000	0.23052	-1.428000	0.05463	0.359000	0.20063	0.011000	0.18532	0.000000	0.08366	0.036000	0.13842	.	.	.	253	0.90069	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	12404.5	149	chr2	95927252	.	A	G	12404.5	.	AC=6;AF=0.5;AN=12;BaseQRankSum=0.577;DP=930;ExcessHet=11.5949;FS=0.557;MLEAC=6;MLEAF=0.5;MQ=53.25;MQRankSum=-10.9;QD=13.35;ReadPosRankSum=-3.866;SOR=0.74	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:84,77:161:99:0|1:95927222_G_GAT:2980,0,3295:95927222	0	0	6	0
chr2	95927268	95927268	C	A	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon28:c.G1885T:p.D629Y	.	676	613	224	9	0	242	0.16485	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.333	.	.	.	0.0990	0.1443	0.0896	0.1297	0.1231	0.0957	0.0823	0.0698	0.0779227	12047	154602	rs79307257	0	6.84e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	6.596e-06	6.571e-06	0	1.351e-05	1.477e-05	0	0	.	.	0	0	0	0	0	0	0	1.477e-05	0	0	0.001	0.78490	D	0.026	0.72224	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	-1.1	0.77336	T	-1.9	0.44284	N	0.173	0.51315	-0.4874	0.69100	T	0.446	0.78240	T	6	0.0048143566	0.00102	T	.	.	.	0.333	0.65522	.	.	.	.	0.012629181598714094	0.01221	.	.	.	.	.	0.007056	0.06479	T	-0.00641558	0.50765	T	-0.246992	0.50114	T	0.852545201778412	0.50387	D	0.59994	0.27277	T	0.11685397	0.27556	0.18900135	0.42222	0.11685397	0.27555	0.18900135	0.42221	-8.156	0.62848	D	.	.	0.178	0.50389	B	.;.	.;.	2.735108	0.35810	20.0	0.94629422228171811	0.25216	0.01477	0.04919	N	AEFBI	0.029319	0.02744	N	-0.591855003156469	0.19190	1.00245	-0.847697327138236	0.13343	0.6916549	1.13024900829832E-5	0.02871	0.475973	0.10046	0	0.601575	0.49859	0	0.547309	0.15389	0	0.491896	0.07777	0	.	.	0.578	0.578	0.16575	0.534000	0.22807	0.568000	0.19578	0.291000	0.18778	0.021000	0.19753	0.000000	0.08366	0.005000	0.06747	.	.	.	253	0.90069	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	16199.5	176	chr2	95927268	.	C	A	16199.5	.	AC=6;AF=0.5;AN=12;BaseQRankSum=-4.67;DP=1066;ExcessHet=11.5949;FS=1.787;MLEAC=6;MLEAF=0.5;MQ=52.63;MQRankSum=-11.62;QD=15.21;ReadPosRankSum=-3.648;SOR=0.548	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:89,95:184:99:0|1:95927222_G_GAT:3690,0,3451:95927222	0	0	6	0
chr2	95927277	95927277	C	T	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon28:c.G1876A:p.D626N	.	672	616	225	9	0	243	0.164746	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.172	.	.	.	0.0982	0.1425	0.0884	0.1290	0.1219	0.0951	0.0815	0.0693	0.0779679	12054	154602	rs75189823	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009	0.57480	D	0.023	0.57104	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	P	.	.	.	-1.07	0.76948	T	-0.32	0.12283	N	0.045	0.10626	-0.0304	0.81622	T	0.463	0.79190	T	5	0.0036658943	0.00067	T	.	.	.	0.172	0.43662	.	.	.	.	0.0029834670744068	0.00278	.	.	.	.	.	0.001745	0.01167	T	-0.214699	0.18721	T	-0.546177	0.17695	T	0.0182863330978625	0.00547	T	0.726827	0.34112	T	0.056939475	0.11268	0.071558535	0.15336	0.056939475	0.11268	0.071558535	0.15336	-7.104	0.55237	T	.	.	0.131	0.35560	B	.;.	.;.	2.171628	0.27671	17.54	0.99663125085786775	0.78074	0.02072	0.06171	N	AEFBI	0.036161	0.04774	N	-0.595262529696858	0.19088	0.996275	-0.85090525598683	0.13266	0.6872205	1.13024900829832E-5	0.02871	0.475973	0.10046	0	0.601575	0.49859	0	0.547309	0.15389	0	0.491896	0.07777	0	.	.	0.578	0.578	0.16575	0.528000	0.22711	-1.180000	0.06099	0.291000	0.18778	0.002000	0.15269	0.000000	0.08366	0.003000	0.05239	.	.	.	253	0.90069	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	16366.5	184	chr2	95927277	.	C	T	16366.5	.	AC=6;AF=0.5;AN=12;BaseQRankSum=-4.677;DP=1111;ExcessHet=11.5949;FS=2.488;MLEAC=6;MLEAF=0.5;MQ=52.6;MQRankSum=-11.77;QD=14.95;ReadPosRankSum=-1.646;SOR=0.53	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:89,95:184:99:0|1:95927222_G_GAT:3690,0,3400:95927222	0	0	6	0
chr2	95929092	95929092	T	C	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon26:c.A1817G:p.E606G	.	442	885	194	1	0	196	0.0996948	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.197	.	.	.	0.0459	0.0589	0.0223	0.0330	0.0459	0.0434	0.0437	0.0722	0.0179806	468	26028	rs76434426	0	1.368e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.68238	D	0.12	0.48855	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	P	.	.	.	-1.41	0.80560	T	-0.78	0.21644	N	0.056	0.10626	-0.3240	0.74310	T	0.401	0.75223	T	5	0.0049548745	0.00106	T	.	.	.	0.197	0.47942	.	.	.	.	0.0054717690626164255	0.00517	.	.	.	.	.	0.005311	0.04761	T	-0.0584766	0.43144	T	-0.321774	0.42379	T	0.00563426744630397	0.00061	T	0.377662	0.09460	T	0.056738406	0.11204	0.0661094	0.13496	0.056738406	0.11203	0.0661094	0.13496	-3.88	0.22002	T	.	.	0.122	0.31279	B	.;.	.;.	2.425270	0.31191	18.67	0.9961510765788425	0.75052	0.01924	0.05874	N	AEFI	0.033909	0.04109	N	-0.600821869982756	0.18921	0.9861679	-0.827596025984616	0.13828	0.7194133	1.26041081260552E-5	0.02871	0.651	0.46895	0	0.546412	0.12157	0	0.565031	0.19037	0	0.683762	0.67416	0	.	.	0.871	0.871	0.18244	1.761000	0.38070	0.132000	0.15059	0.312000	0.19173	0.010000	0.18352	0.001000	0.17328	0.012000	0.09680	0.0:0.0:0.0:1.0	3.983	0.08994	253	0.90069	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	8094.55	110	chr2	95929092	.	T	C	8094.55	.	AC=6;AF=0.5;AN=12;BaseQRankSum=1.2;DP=771;ExcessHet=11.5949;FS=4.912;MLEAC=6;MLEAF=0.5;MQ=47.62;MQRankSum=-7.583;QD=10.62;ReadPosRankSum=-2.964;SOR=1.103	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:80,29:109:99:0|1:95929092_T_C:955,0,3239:95929092	0	0	6	0
chr2	95929110	95929110	A	G	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon26:c.T1799C:p.I600T	.	444	879	199	0	0	199	0.101686	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.230	.	.	.	0.0502	0.0563	0.0250	0.0339	0.0515	0.0474	0.0455	0.0855	0.0009221	24	26028	rs80159651	0	6.84e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.056	0.38185	T	0.013	0.63109	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	-1.17	0.78199	T	-0.21	0.10308	N	0.064	0.13911	-0.7459	0.58149	T	0.297	0.66886	T	6	0.0053180456	0.00117	T	.	.	.	0.230	0.53062	.	.	.	.	0.00358464158390252	0.00335	.	.	.	.	.	5.76E-4	0.00232	T	-0.102964	0.35934	T	-0.385677	0.35058	T	0.00148509498065692	0.00015	T	0.430857	0.15541	T	0.03336381	0.03541	0.041758195	0.04819	0.03336381	0.03540	0.041758195	0.04819	-5.849	0.49914	T	.	.	0.141	0.47448	B	.;.	.;.	1.598186	0.20432	14.75	0.94716897870735495	0.25385	0.00401	0.02002	N	AEFI	0.028900	0.02629	N	-0.753193177697584	0.14546	0.7255317	-1.00196959350196	0.09742	0.4864572	9.46784315172941E-6	0.01202	0.651	0.46895	0	0.546412	0.12157	0	0.565031	0.19037	0	0.683762	0.67416	0	.	.	0.871	-0.637	0.10926	0.215000	0.17352	-1.249000	0.05911	0.351000	0.19951	0.001000	0.13787	0.000000	0.08366	0.003000	0.05239	0.4587:0.0:0.0:0.5413	2.815	0.05119	253	0.90069	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	10660.5	124	chr2	95929110	.	A	G	10660.5	.	AC=6;AF=0.5;AN=12;BaseQRankSum=8.51;DP=896;ExcessHet=11.5949;FS=8.404;MLEAC=6;MLEAF=0.5;MQ=45.67;MQRankSum=-7.949;QD=11.9;ReadPosRankSum=-2.216;SOR=1.3	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:88,39:127:99:0|1:95929092_T_C:1373,0,3578:95929092	0	0	6	0
chr2	95929126	95929126	C	A	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon26:c.G1783T:p.D595Y	.	442	865	215	0	0	215	0.11054	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.242	.	.	.	0.0287	0.0327	0.0149	0.0205	0.0260	0.0277	0.0293	0.0461	0.0009221	24	26028	rs79434735	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.005	0.72224	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	-0.96	0.75553	T	-1.05	0.27463	N	0.094	0.37717	-0.7052	0.60188	T	0.302	0.67344	T	6	0.007255286	0.00165	T	.	.	.	0.242	0.54781	.	.	.	.	0.01955586045237903	0.01909	.	.	.	.	.	0.003986	0.03393	T	-0.0187037	0.49039	T	-0.264643	0.48358	T	0.00831936897839858	0.00100	T	0.876612	0.58915	D	0.08026257	0.18380	0.06422837	0.12840	0.08026257	0.18380	0.06422837	0.12840	-7.935	0.60626	D	.	.	0.193	0.50147	B	.;.	.;.	1.372804	0.17831	13.39	0.93504610952685097	0.23313	0.02178	0.06379	N	AEFI	0.025243	0.01698	N	-0.59865468081622	0.18985	0.9901359	-0.821302082525131	0.13979	0.7281023	1.38702267383256E-5	0.02871	0.651	0.46895	0	0.546412	0.12157	0	0.565031	0.19037	0	0.683762	0.67416	0	.	.	0.871	0.871	0.18244	-0.066000	0.11556	0.673000	0.20610	0.284000	0.18682	0.001000	0.13787	0.001000	0.17328	0.010000	0.09038	0.0:1.0:0.0:0.0	5.051	0.13847	253	0.90069	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	14540.5	150	chr2	95929126	.	C	A	14540.5	.	AC=6;AF=0.5;AN=12;BaseQRankSum=2.89;DP=1057;ExcessHet=11.5949;FS=15.195;MLEAC=6;MLEAF=0.5;MQ=44.37;MQRankSum=-8.825;QD=13.76;ReadPosRankSum=-2.151;SOR=1.653	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:98,59:157:99:0|1:95929092_T_C:2182,0,3937:95929092	0	0	6	0
chr2	95929130	95929130	G	C	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon26:c.C1779G:p.D593E	.	442	863	217	0	0	217	0.111683	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.082	.	.	.	0.0281	0.0314	0.0152	0.0199	0.0259	0.0271	0.0289	0.0443	0.0009221	24	26028	rs375866621	5.512e-06	6.156e-06	6.857e-06	4.153e-06	7.204e-06	2.37e-06	1.71e-06	3.1e-06	2.24e-06	0	0	0	0	0	0	7.204e-06	0	0	6.603e-06	6.573e-06	1.29e-05	0	1.478e-05	0	0	.	.	0	0	0	0	0	0	0	1.478e-05	0	0	1.0	0.00964	T	0.215	0.26306	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	-0.99	0.75911	T	-0.17	0.09627	N	0.012	0.01274	-0.9830	0.34305	T	0.120	0.41886	T	6	0.0062747	0.00142	T	.	.	.	0.082	0.23913	0.088	0.00943	.	.	0.0012585486106362017	0.00115	.	.	.	.	.	6.61E-4	0.00291	T	-0.22299	0.17588	T	-0.558086	0.16556	T	0.0056942431256175	0.00062	T	0.361264	0.08382	T	0.030476715	0.02717	0.028199261	0.01033	0.030476715	0.02717	0.028199261	0.01033	1.103	0.00153	T	.	.	0.184	0.39898	B	.;.	.;.	-0.102250	0.03628	0.719	0.82362292130898662	0.14152	0.00009	0.00143	N	AEFI	0.011962	0.00118	N	-1.12759496650573	0.06156	0.2826552	-1.32800364383948	0.04072	0.1913117	8.82048009805059E-6	0.01202	0.651	0.46895	0	0.546412	0.12157	0	0.565031	0.19037	0	0.683762	0.67416	0	.	.	0.871	-0.0539	0.13146	0.175000	0.16577	-0.796000	0.07394	-0.724000	0.03774	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.0:0.5966:0.4034:0.0	4.774	0.12542	253	0.90069	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	15558.5	155	chr2	95929130	.	G	C	15558.5	.	AC=6;AF=0.5;AN=12;BaseQRankSum=4.1;DP=1091;ExcessHet=11.5949;FS=15.27;MLEAC=6;MLEAF=0.5;MQ=44;MQRankSum=-8.641;QD=14.26;ReadPosRankSum=-1.702;SOR=1.703	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:105,63:168:99:0|1:95929092_T_C:2324,0,4219:95929092	0	0	6	0
chr2	95929135	95929135	C	T	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon26:c.G1774A:p.D592N	.	440	860	222	0	0	222	0.114315	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.061	.	.	.	0.0258	0.0286	0.0139	0.0184	0.0245	0.0251	0.0266	0.0399	0.0009221	24	26028	rs111462973	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	0.56456	D	0.31	0.26306	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	-1.0	0.76037	T	-0.29	0.11728	N	0.04	0.12341	-0.9745	0.36235	T	0.178	0.52334	T	6	0.0032269955	0.00055	T	.	.	.	0.061	0.17616	.	.	.	.	0.004280505726367948	0.00402	.	.	.	.	.	0.002625	0.02014	T	-0.209791	0.19408	T	-0.539127	0.18382	T	0.0104211887073546	0.00143	T	0.69513	0.30474	T	0.054424945	0.10441	0.04548125	0.06130	0.054424945	0.10440	0.04548125	0.06129	-6.736	0.52081	T	.	.	0.134	0.35352	B	.;.	.;.	2.140902	0.27259	17.40	0.99632098778018607	0.76081	0.00615	0.02724	N	AEFI	0.027355	0.02221	N	-0.807133128301253	0.13128	0.6445496	-1.03707422889346	0.08978	0.4441984	8.83579175512005E-6	0.01202	0.651	0.46895	0	0.653731	0.59785	0	0.565031	0.19037	0	0.683762	0.67416	0	.	.	0.871	-0.0868	0.13014	0.656000	0.24632	0.771000	0.21396	0.284000	0.18682	0.006000	0.17386	0.005000	0.19230	0.009000	0.08673	0.0:0.6672:0.0:0.3328	3.151	0.06100	253	0.90069	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	15783.5	159	chr2	95929135	.	C	T	15783.5	.	AC=6;AF=0.5;AN=12;BaseQRankSum=3.75;DP=1140;ExcessHet=11.5949;FS=16.95;MLEAC=6;MLEAF=0.5;MQ=43.55;MQRankSum=-8.589;QD=14.26;ReadPosRankSum=-1.773;SOR=1.685	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:107,67:174:99:0|1:95929092_T_C:2420,0,4243:95929092	0	0	6	0
chr2	97185337	97185337	C	-	exonic	ANKRD36	.	frameshift deletion	ANKRD36:NM_001354587:exon29:c.1961delC:p.S655Qfs*12	.	498	735	288	1	0	290	0.164773	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1402796432	0	1.368e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4167	766.45	93	chr2	97185336	.	GC	G	766.45	.	AC=5;AF=0.417;AN=12;BaseQRankSum=0.258;DP=590;ExcessHet=6.1542;FS=0.964;MLEAC=5;MLEAF=0.417;MQ=47.56;MQRankSum=-4.107;QD=1.48;ReadPosRankSum=0.998;SOR=0.545	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:90,7:97:23:0|1:97185336_GC_G:23,0,3758:97185336	1	0	5	0
chr2	97185340	97185340	C	G	exonic	ANKRD36	.	stopgain	ANKRD36:NM_001354587:exon29:c.C1964G:p.S655X	.	497	736	288	1	0	290	0.164586	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs961387199	6.861e-07	2.052e-06	1.365e-06	0	2.527e-05	0	0	.	.	0	0	0	2.527e-05	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.055	0.02658	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.289078	0.09729	T	-0.653017	0.08744	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerant;Tolerant	High;High	2.985359	0.39833	21.0	0.68029575050880731	0.08533	0.00253	0.01392	N	AEFI	0.017170	0.00433	N	-0.957463532196475	0.09526	0.4512341	-1.36962598911469	0.03580	0.1672776	1.88742451027402E-5	0.02871	0.651	0.46895	0	0.633656	0.55848	0	0.670488	0.60580	0	0.683762	0.67416	0	.	.	1.06	-2.12	0.06766	-0.027000	0.12319	-1.673000	0.04942	-4.347000	0.00032	0.001000	0.13787	0.000000	0.08366	0.000000	0.00833	0.3106:0.2305:0.0:0.4589	1.483	0.02294	216	0.91608	.;.	.	.	.	.	.	Uncertain significance	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4167	730.37	96	chr2	97185340	.	C	G	730.37	.	AC=5;AF=0.417;AN=12;BaseQRankSum=0.81;DP=599;ExcessHet=6.1542;FS=0.957;MLEAC=5;MLEAF=0.417;MQ=47.3;MQRankSum=-4.03;QD=1.38;ReadPosRankSum=1.34;SOR=0.567	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:92,7:99:17:0|1:97185336_GC_G:17,0,3842:97185336	1	0	5	0
chr2	97185341	97185341	-	G	exonic	ANKRD36	.	frameshift insertion	ANKRD36:NM_001354587:exon29:c.1965_1966insG:p.K656Efs*5	.	498	735	288	1	0	290	0.164773	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1297719451	0	1.368e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4167	727.31	96	chr2	97185341	.	A	AG	727.31	.	AC=5;AF=0.417;AN=12;BaseQRankSum=-0.116;DP=602;ExcessHet=6.1542;FS=0;MLEAC=5;MLEAF=0.417;MQ=47.2;MQRankSum=-3.997;QD=1.37;ReadPosRankSum=1.51;SOR=0.585	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:92,7:99:17:0|1:97185336_GC_G:17,0,3842:97185336	1	0	5	0
chr2	97513220	97513220	G	A	exonic	ANKRD36B	.	nonsynonymous SNV	ANKRD36B:NM_025190:exon38:c.C2765T:p.A922V	.	613	640	247	22	0	291	0.185232	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0963	0.0850	0.0216	0.0100	0.3296	0.0294	0.1310	0.0097	0.0001921	5	26028	rs80135902	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.01155	T	0.01	0.15535	B	0.002	0.06944	B	.	.	.	.	.	.	.	0	0.06538	N	.	.	.	.	.	.	0.031	0.15888	.	.	.	.	.	.	.	0.0024380386	0.00036	T	.	.	.	.	.	.	.	.	.	0.0030564260149934064	0.00284	.	.	0.613379478455	0.54794	T	0.007581	0.06977	T	-0.0927998	0.37613	T	-0.371077	0.36763	T	.	.	.	0.352565	0.07917	T	0.017845605	0.00308	0.067346	0.13920	0.017845605	0.00308	0.067346	0.13919	-1.943	0.02973	T	.	.	0.108	0.23709	B	.;.;.	.;.;.	0.756607	0.11265	7.891	0.24358559582250291	0.01073	0.00023	0.00238	N	AEFI	.	.	.	.	.	.	.	.	.	1.16123222590643E-6	0.01202	0.294411	0.05044	0	0.332522	0.05826	0	0.183335	0.04453	0	0.223356	0.04673	0	0.0495094	0.09020	1.25	-0.477	0.11493	0.374000	0.20232	-0.021000	0.12925	-0.716000	0.03877	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.7908:0.0:0.2092:0.0	4.611	0.11791	243	0.90483	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.242358	0.041667	0.256579	0.288889	0.375000	0.340426	0.247788	0.262376	0.5	9810.55	118	chr2	97513220	.	G	A	9810.55	.	AC=6;AF=0.5;AN=12;BaseQRankSum=-0.994;DP=745;ExcessHet=11.5949;FS=2.663;MLEAC=6;MLEAF=0.5;MQ=35.14;MQRankSum=-2.353;QD=13.17;ReadPosRankSum=-0.246;SOR=0.92	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:156,28:184:99:0|1:97513219_T_C:706,0,6466:97513219	0	0	6	0
chr2	97513227	97513227	T	C	exonic	ANKRD36B	.	nonsynonymous SNV	ANKRD36B:NM_025190:exon38:c.A2758G:p.K920E	.	611	640	249	22	0	293	0.186268	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0214	0.0529	0.0036	0	0.0702	0.0066	0.0682	0.0028	3.84e-05	1	26028	rs79390266	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.05707	T	0.544	0.37968	P	0.044	0.24394	B	.	.	.	.	.	.	.	1.445	0.36358	L	.	.	.	.	.	.	0.12	0.33250	.	.	.	.	.	.	.	0.0055945516	0.00124	T	.	.	.	.	.	.	.	0.168933306366	0.16529	0.003989330973675759	0.00373	.	.	0.735671639442	0.72336	T	0.033889	0.23100	T	-0.112291	0.34391	T	-0.399074	0.33492	T	.	.	.	0.369363	0.08678	T	0.05957855	0.12126	0.07929396	0.17837	0.05957855	0.12126	0.07929396	0.17837	-5.258	0.39526	T	.	.	0.142	0.33086	B	.;.;.	.;.;.	1.364301	0.17734	13.34	0.46228864402172176	0.03687	0.02246	0.06510	N	AEFI	.	.	.	.	.	.	.	.	.	4.68263816856013E-6	0.01202	0.294411	0.05044	0	0.332522	0.05826	0	0.183335	0.04453	0	0.223356	0.04673	0	0.103977	0.22772	1.25	1.25	0.20475	-0.034000	0.12176	-6.769000	0.01311	0.334000	0.19664	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.0:0.0:0.0:1.0	6.615	0.21965	243	0.90483	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.049467	0.010417	0.061189	0.058140	0.000000	0.104651	0.038462	0.040000	0.5	10342.5	125	chr2	97513227	.	T	C	10342.5	.	AC=6;AF=0.5;AN=12;BaseQRankSum=-0.043;DP=792;ExcessHet=11.5949;FS=2.655;MLEAC=6;MLEAF=0.5;MQ=35.39;MQRankSum=-2.431;QD=13.28;ReadPosRankSum=0.888;SOR=0.924	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:161,31:192:99:0|1:97513219_T_C:776,0,6667:97513219	0	0	6	0
chr2	97513244	97513244	G	T	exonic	ANKRD36B	.	nonsynonymous SNV	ANKRD36B:NM_025190:exon38:c.C2741A:p.P914Q	.	595	624	272	31	0	334	0.211125	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0023	0.0143	0	0	0	0.0016	0	0	3.84e-05	1	26028	rs79527710	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.569	0.10391	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	.	.	.	-1.445	0.00556	N	.	.	.	.	.	.	0.188	0.27435	.	.	.	.	.	.	.	0.0063654184	0.00144	T	.	.	.	.	.	.	.	0.320256813643	0.31633	0.004245720093313631	0.00398	.	.	0.703683018684	0.67677	T	0.006209	0.05647	T	-0.125373	0.32247	T	-0.417866	0.31321	T	.	.	.	0.315568	0.06252	T	0.023773897	0.01146	0.07268516	0.15708	0.023773897	0.01146	0.07268516	0.15708	0.674	0.00180	T	.	.	0.102	0.17827	B	.;.;.	.;.;.	-0.119120	0.03530	0.672	0.19522481671669692	0.00662	0.00471	0.02257	N	AEFI	.	.	.	.	.	.	.	.	.	1.11447686844719E-6	0.01202	0.294411	0.05044	0	0.332522	0.05826	0	0.183335	0.04453	0	0.347871	0.05795	0	0.0495094	0.09020	1.25	-0.0318	0.13235	0.839000	0.27239	1.716000	0.28228	-0.610000	0.04588	0.997000	0.40164	0.949000	0.28973	0.001000	0.02609	0.2806:0.0:0.2874:0.432	2.311	0.03930	243	0.90483	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	12318.5	148	chr2	97513244	.	G	T	12318.5	.	AC=6;AF=0.5;AN=12;BaseQRankSum=-0.163;DP=888;ExcessHet=11.5949;FS=3.359;MLEAC=6;MLEAF=0.5;MQ=35.84;MQRankSum=-2.194;QD=13.95;ReadPosRankSum=0.469;SOR=0.945	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:174,39:213:99:0|1:97513244_G_T:1114,0,7169:97513244	0	0	6	0
chr2	97513253	97513253	A	G	exonic	ANKRD36B	.	nonsynonymous SNV	ANKRD36B:NM_025190:exon38:c.T2732C:p.V911A	.	594	617	279	32	0	343	0.217502	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0010	0.0083	0	0	0	0.0008	0	0	3.84e-05	1	26028	rs80295552	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.424	0.23914	T	0.008	0.14655	B	0.002	0.06944	B	.	.	.	.	.	.	.	0.69	0.16971	N	.	.	.	.	.	.	0.109	0.12627	.	.	.	.	.	.	.	0.00813821	0.00185	T	.	.	.	.	.	.	.	0.216624796971	0.21254	0.003043674037080383	0.00283	.	.	0.697517633438	0.66786	T	0.028597	0.20678	T	-0.148518	0.28543	T	-0.451112	0.27575	T	.	.	.	0.321068	0.06505	T	0.015220522	0.00128	0.050442122	0.07918	0.015220522	0.00128	0.050442122	0.07917	-2.994	0.10116	T	.	.	0.23	0.46273	B	.;.;.	.;.;.	0.168625	0.05582	2.036	0.46468697738120324	0.03724	0.00493	0.02333	N	AEFI	.	.	.	.	.	.	.	.	.	1.09581247054722E-6	0.01202	0.294411	0.05044	0	0.332522	0.05826	0	0.183335	0.04453	0	0.347871	0.05795	0	0.0502799	0.09584	1.25	0.037	0.13512	-0.176000	0.09802	-1.469000	0.05369	-0.632000	0.04510	0.008000	0.17931	0.000000	0.08366	0.002000	0.04165	0.5217:0.0:0.4783:0.0	4.080	0.09400	243	0.90483	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000639	0.000000	0.002857	0.004630	0.000000	0.000000	0.000000	0.000000	0.5	12785.5	154	chr2	97513253	.	A	G	12785.5	.	AC=6;AF=0.5;AN=12;BaseQRankSum=-0.503;DP=917;ExcessHet=11.5949;FS=4.21;MLEAC=6;MLEAF=0.5;MQ=36.04;MQRankSum=-2.041;QD=14.11;ReadPosRankSum=0.963;SOR=0.999	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:181,44:225:99:0|1:97513244_G_T:1282,0,7447:97513244	0	0	6	0
chr2	97513254	97513254	C	T	exonic	ANKRD36B	.	nonsynonymous SNV	ANKRD36B:NM_025190:exon38:c.G2731A:p.V911M	.	594	616	280	32	0	344	0.218274	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0011	0.0076	0	0	0	0.0011	0	0	7.68e-05	2	26028	rs74341509	0.0001	0.0001	0.0001	0.0002	0.0002	0.0001	0.0001	0.0002	0.0001	0	0	0	0	0	0	0.0002	0.0002	0	8.256e-05	9.122e-05	7.317e-05	9.244e-05	0.0002	4.621e-05	3.529e-05	9.276e-05	7.178e-05	0	0	0	0	0	0	0	0.0002	0	0	.	.	.	0.098	0.39040	T	0.053	0.22573	B	0.004	0.10090	B	.	.	.	.	.	.	.	0.345	0.11182	N	.	.	.	.	.	.	0.115	0.14480	.	.	.	.	.	.	.	0.008039981	0.00183	T	.	.	.	.	.	.	.	0.201204373187	0.19734	0.004376723944163083	0.00411	.	.	0.681571960449	0.64493	T	0.010384	0.09385	T	-0.177895	0.24050	T	-0.493311	0.23044	T	.	.	.	0.538946	0.18179	T	0.01859633	0.00382	0.05722728	0.10366	0.01859633	0.00382	0.05722728	0.10366	-3.253	0.13139	T	.	.	0.167	0.37746	B	.;.;.	.;.;.	0.527632	0.08965	5.745	0.40177876468154022	0.02819	0.00378	0.01916	N	AEFI	.	.	.	.	.	.	.	.	.	1.15642168101809E-6	0.01202	0.294411	0.05044	0	0.332522	0.05826	0	0.183335	0.04453	0	0.347871	0.05795	0	0.0502799	0.09584	1.25	-0.662	0.10840	-0.590000	0.05854	-9.274000	0.00843	0.304000	0.19002	0.004000	0.16614	0.000000	0.08366	0.002000	0.04165	0.0:0.6788:0.0:0.3212	5.565	0.16451	243	0.90483	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.006345	0.000000	0.005682	0.000000	0.000000	0.000000	0.008264	0.008696	0.5	12794.5	151	chr2	97513254	.	C	T	12794.5	.	AC=6;AF=0.5;AN=12;BaseQRankSum=-1.061;DP=916;ExcessHet=11.5949;FS=4.21;MLEAC=6;MLEAF=0.5;MQ=36.03;MQRankSum=-2.041;QD=14.17;ReadPosRankSum=0.806;SOR=1.003	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:181,44:225:99:0|1:97513244_G_T:1282,0,7447:97513244	0	0	6	0
chr2	97513268	97513268	C	T	exonic	ANKRD36B	.	nonsynonymous SNV	ANKRD36B:NM_025190:exon38:c.G2717A:p.R906K	.	591	591	298	42	0	382	0.244246	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2502	0.2966	0.2791	0.2632	0.3769	0.2470	0.2431	0.1747	0.0004995	13	26028	rs144131603	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.274	0.27235	T	0.119	0.26641	B	0.008	0.13708	B	.	.	.	.	.	.	.	1.495	0.37439	L	.	.	.	.	.	.	0.042	0.16028	.	.	.	.	.	.	.	0.002357304	0.00035	T	.	.	.	.	.	.	.	.	.	0.005747616653950952	0.00544	.	.	0.613570392132	0.54820	T	0.017136	0.14032	T	-0.187866	0.22573	T	-0.507633	0.21559	T	.	.	.	0.572743	0.20478	T	0.03131732	0.02950	0.0672792	0.13896	0.03131732	0.02950	0.0672792	0.13896	-3.791	0.20670	T	.	.	0.137	0.29968	B	.;.;.	.;.;.	-1.310648	0.00429	0.009	0.36842002943516644	0.02393	0.00779	0.03201	N	AEFI	.	.	.	.	.	.	.	.	.	1.25854079706441E-6	0.01202	0.294411	0.05044	0	0.332522	0.05826	0	0.078618	0.02440	0	0.347871	0.05795	0	0.0933222	0.21027	1.25	0.308	0.15062	-1.265000	0.02953	-5.898000	0.01560	-1.898000	0.00526	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.7823:0.0:0.2177	5.370	0.15434	243	0.90483	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.308701	0.315385	0.320055	0.309735	0.250000	0.263158	0.341912	0.338843	0.5	14088.5	157	chr2	97513268	.	C	T	14088.5	.	AC=6;AF=0.5;AN=12;BaseQRankSum=-0.1;DP=942;ExcessHet=11.5949;FS=3.264;MLEAC=6;MLEAF=0.5;MQ=36.45;MQRankSum=-2.206;QD=15.02;ReadPosRankSum=1.17;SOR=0.946	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:186,54:240:99:0|1:97513268_C_T:1708,0,7648:97513268	0	0	6	0
chr2	97513270	97513270	A	C	exonic	ANKRD36B	.	stopgain	ANKRD36B:NM_025190:exon38:c.T2715G:p.Y905X	.	591	592	298	41	0	380	0.242967	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2438	0.2932	0.2713	0.2615	0.3746	0.2394	0.2372	0.1697	0.0005763	15	26028	rs879468063	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.13	0.16586	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.361473	0.04047	T	-0.757008	0.03221	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.	.;.;.	3.385426	0.46848	22.4	0.44838944251633817	0.03476	0.03038	0.07927	N	AEFI	.	.	.	.	.	.	.	.	.	1.13426159498125E-6	0.01202	0.294411	0.05044	0	0.332522	0.05826	0	0.078618	0.02440	0	0.347871	0.05795	0	0.166916	0.28634	1.25	0.017	0.13431	-0.091000	0.11111	-1.488000	0.05326	0.375000	0.20354	0.013000	0.18845	0.000000	0.08366	0.003000	0.05239	0.7855:0.0:0.2145:0.0	4.462	0.11093	243	0.90483	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.323424	0.318182	0.331044	0.327434	0.333333	0.307018	0.349265	0.347107	0.5	14249.5	157	chr2	97513270	.	A	C	14249.5	.	AC=6;AF=0.5;AN=12;BaseQRankSum=0.475;DP=947;ExcessHet=11.5949;FS=3.291;MLEAC=6;MLEAF=0.5;MQ=36.52;MQRankSum=-2.055;QD=15.05;ReadPosRankSum=1.31;SOR=0.944	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:186,57:243:99:0|1:97513268_C_T:1813,0,7639:97513268	0	0	6	0
chr2	97513271	97513271	T	C	exonic	ANKRD36B	.	nonsynonymous SNV	ANKRD36B:NM_025190:exon38:c.A2714G:p.Y905C	.	591	590	299	42	0	383	0.245042	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2908	0.3387	0.3276	0.3085	0.4114	0.2887	0.2821	0.2034	0.0006531	17	26028	rs146893214	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.128	0.56640	T	0.022	0.18677	B	0.002	0.06944	B	.	.	.	.	.	.	.	1.14	0.29013	L	.	.	.	.	.	.	0.149	0.51315	.	.	.	.	.	.	.	0.0020657778	0.00029	T	.	.	.	.	.	.	.	.	.	0.004479552258500605	0.00420	.	.	0.829705476761	0.86516	D	0.127676	0.45486	T	0.00706366	0.52624	T	-0.22763	0.52001	T	.	.	.	0.424058	0.11326	T	0.08367851	0.19332	0.12435671	0.29977	0.08367851	0.19332	0.12435671	0.29976	-3.342	0.14285	T	.	.	0.228	0.46049	B	.;.;.	.;.;.	2.163208	0.27562	17.50	0.45197924751744767	0.03530	0.10868	0.16248	N	AEFI	.	.	.	.	.	.	.	.	.	1.47313282737101E-6	0.01202	0.294411	0.05044	0	0.332522	0.05826	0	0.078618	0.02440	0	0.347871	0.05795	0	0.0933222	0.21027	1.25	1.25	0.20475	2.350000	0.43718	-0.293000	0.10176	0.334000	0.19664	0.983000	0.35670	0.000000	0.08366	0.004000	0.06068	0.0:0.2551:0.0:0.7449	3.086	0.05898	243	0.90483	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.421021	0.365672	0.435440	0.398230	0.416667	0.385965	0.470588	0.438017	0.5	14309.5	157	chr2	97513271	.	T	C	14309.5	.	AC=6;AF=0.5;AN=12;BaseQRankSum=-0.436;DP=952;ExcessHet=11.5949;FS=3.291;MLEAC=6;MLEAF=0.5;MQ=36.56;MQRankSum=-2.055;QD=15.03;ReadPosRankSum=1.29;SOR=0.935	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:187,59:246:99:0|1:97513268_C_T:1854,0,7669:97513268	0	0	6	0
chr2	97513281	97513281	C	T	exonic	ANKRD36B	.	nonsynonymous SNV	ANKRD36B:NM_025190:exon38:c.G2704A:p.E902K	.	587	587	303	45	0	393	0.250798	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4801	0.5496	0.4874	0.4823	0.5076	0.4642	0.4639	0.4735	0.0017529	271	154602	rs5011473	3.077e-05	0.0002	3.34e-05	2.81e-05	0.0001	2.332e-05	2.077e-05	3.145e-05	1.671e-05	0.0001	0	0	0	0.0007	0	2.729e-06	0	0	0	9.135e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	0.094	0.41573	T	0.98	0.59353	D	0.855	0.60933	P	.	.	.	.	.	.	.	1.765	0.45800	L	.	.	.	.	.	.	0.208	0.65758	.	.	.	.	.	.	.	0.002158165	0.00031	T	.	.	.	.	.	.	.	.	.	0.03228563945784759	0.03176	.	.	0.789947628975	0.80434	T	0.190084	0.54451	T	0.0749938	0.61451	D	-0.130053	0.60967	T	.	.	.	0.733627	0.34942	T	0.02507305	0.01405	0.09507035	0.22531	0.02507305	0.01404	0.09507035	0.22530	-6.657	0.51486	T	.	.	0.139	0.30476	B	.;.;.	.;.;.	2.117809	0.26958	17.30	0.4037492673049709	0.02845	0.56632	0.30167	D	AEFI	.	.	.	.	.	.	.	.	.	1.05171682619281E-5	0.01202	0.294411	0.05044	0	0.332522	0.05826	0	0.078618	0.02440	0	0.347871	0.05795	0	0.167599	0.28683	1.4	1.4	0.21393	3.749000	0.54867	0.048000	0.13961	-0.659000	0.04360	1.000000	0.71638	0.001000	0.17328	0.002000	0.04165	0.0:1.0:0.0:0.0	8.752	0.33786	243	0.90483	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.529548	0.601351	0.515110	0.508696	0.416667	0.517241	0.552448	0.516393	0.5	14586.5	162	chr2	97513281	.	C	T	14586.5	.	AC=6;AF=0.5;AN=12;BaseQRankSum=-0.802;DP=963;ExcessHet=11.5949;FS=3.276;MLEAC=6;MLEAF=0.5;MQ=36.9;MQRankSum=-2.365;QD=15.27;ReadPosRankSum=-0.166;SOR=0.939	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:182,60:242:99:0|1:97513268_C_T:1891,0,7375:97513268	0	0	6	0
chr2	97513354	97513354	T	C	exonic	ANKRD36B	.	nonsynonymous SNV	ANKRD36B:NM_025190:exon38:c.A2631G:p.I877M	.	663	628	207	24	0	255	0.168762	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4962	0.4838	0.4975	0.4959	0.5008	0.4970	0.4959	0.4971	0.0692716	1803	26028	rs879259208	1.426e-06	2.057e-06	1.417e-06	1.436e-06	9.218e-07	2.4e-07	9e-08	.	.	0	0	0	0	0	0	9.218e-07	1.742e-05	0	3.782e-05	4.181e-05	5.896e-05	1.554e-05	0.0004	1.406e-05	9.03e-06	0.0001	9.02e-05	0	0	0.0004	0	0	0	0	0	0	0	.	.	.	0.093	0.39799	T	0.563	0.38396	P	0.061	0.26820	B	.	.	.	.	.	.	.	0.69	0.16971	N	.	.	.	.	.	.	0.086	0.34120	.	.	.	.	.	.	.	0.00250566	0.00038	T	.	.	.	.	.	.	.	.	.	0.005410322706841144	0.00512	.	.	0.634645044804	0.57804	T	0.046049	0.27308	T	-0.0562864	0.43486	T	-0.318628	0.42725	T	.	.	.	0.682432	0.29103	T	0.06877274	0.15009	0.14055093	0.33500	0.06877274	0.15009	0.14055093	0.33499	-5.398	0.40900	T	.	.	0.175	0.41387	B	.;.;.	.;.;.	2.260359	0.28881	17.94	0.78590890435183058	0.12367	0.19138	0.20543	N	AEFI	.	.	.	.	.	.	.	.	.	1.43761767599795E-6	0.01202	0.294411	0.05044	0	0.332522	0.05826	0	0.078618	0.02440	0	0.223356	0.04673	0	0.0910582	0.20564	1.4	1.4	0.21393	0.366000	0.20099	-0.250000	0.10515	0.334000	0.19664	0.995000	0.38783	0.000000	0.08366	0.026000	0.12556	0.3508:0.0:0.0:0.6492	3.561	0.07435	243	0.90483	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.493015	0.474026	0.484848	0.500000	0.500000	0.517241	0.503597	0.495868	0.5	4293.55	98	chr2	97513354	.	T	C	4293.55	.	AC=6;AF=0.5;AN=12;BaseQRankSum=2.73;DP=555;ExcessHet=11.5949;FS=0;MLEAC=6;MLEAF=0.5;MQ=39.07;MQRankSum=-2.623;QD=7.95;ReadPosRankSum=0.805;SOR=0.714	GT:AD:DP:GQ:PL	0/1:97,40:137:99:708,0,2348	0	0	6	0
chr2	100576452	100576452	C	T	exonic	PDCL3	.	nonsynonymous SNV	PDCL3:NM_024065:exon6:c.C676T:p.R226C	.	435	1086	1	0	0	1	0.000460193	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.036	0.00661481219972	.	0.000399361	0.0004	0	0	0.0021	0	0	0.0011	0.0018	0.0003234	50	154602	rs199536229	0.0002	0.0002	0.0002	0.0002	0.0050	0.0002	0.0001	0.0044	0.0042	0	0.0001	0	0.0050	1.872e-05	0.0003	2.699e-06	8.286e-05	0.0004	8.535e-05	9.186e-05	1.285e-05	0.0002	0.0017	4.953e-05	3.96e-05	0.0009	0.0007	0	0	6.538e-05	0	0.0017	0	0	1.47e-05	0	0.0004	0.246	0.17353	T	0.107	0.37730	T	0.0	0.02946	B	0.001	0.04355	B	0.911619	0.08549	N	0.963610	1	0.08975	N	-0.85	0.01485	N	1.48	0.31731	T	-1.25	0.31576	N	0.069	0.04188	-1.0184	0.24236	T	0.021	0.09101	T	10	0.0043221414	0.00087	T	0.006615	0.17444	T	0.036	0.09122	.	.	0.18274738541	0.17906	0.3992335675685308	0.39838	0.159598447306	0.18012	0.213638156652	0.00975	T	0.017654	0.14364	T	-0.657822	0.00065	T	-0.721996	0.04700	T	0.0269353623672509	0.01535	T	0.189981	0.02023	T	0.03469971	0.03943	0.022228397	0.00252	0.03469971	0.03943	0.022228397	0.00252	-3.7	0.19318	T	.	.	0.103	0.18289	B	.	.	1.224700	0.16187	12.38	0.8261602701598505	0.14284	0.01141	0.04137	N	AEFGBI	0.054004	0.09782	N	-1.85120092290579	0.00432	0.01856085	-1.93097398459547	0.00425	0.01878151	0.999998392004992	0.74766	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	4.95	-9.9	0.00382	-0.755000	0.04887	-0.620000	0.08178	-0.994000	0.01837	0.000000	0.06391	0.000000	0.08366	0.006000	0.07323	0.2384:0.1855:0.4022:0.1738	1.990	0.03236	657	0.62240	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	45.83	33	chr2	100576452	.	C	T	45.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-3.59;DP=309;ExcessHet=0;FS=108.402;MLEAC=1;MLEAF=0.083;MQ=59.9;MQRankSum=0.536;QD=0.39;ReadPosRankSum=0.76;SOR=6.516	GT:AD:DP:GQ:PL	0/1:94,25:119:56:56,0,2123	5	0	1	0
chr2	106413119	106413119	A	G	exonic	RGPD3	.	nonsynonymous SNV	RGPD3:NM_001144013:exon22:c.T5231C:p.L1744P	.	574	909	32	7	0	46	0.0246781	.	.	.	2348696	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.151	0.00426816041692	.	.	.	.	.	.	.	.	.	.	0.0084524	220	26028	rs1200568186	0.0025	0.0050	0.0020	0.0030	0.0187	0.0024	0.0024	0.0153	0.0143	0.0009	0.0024	0.0082	0.0134	0.0008	0.0187	0.0010	0.0033	0.0153	0.0026	0.0052	0.0025	0.0027	0.0136	0.0024	0.0023	0.0108	0.0099	0.0010	0.0022	0.0019	0.0089	0.0122	9.475e-05	0.0326	0.0023	0.0044	0.0136	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	0.996073	0.43003	D	-2.725	0.00030	N	1.55	0.29866	T	1.13	0.01182	N	0.329	0.36989	-0.9554	0.40024	T	0.010	0.03811	T	9	0.0046307743	0.00097	T	0.004268	0.10341	T	0.151	0.39764	0.437	0.48993	0.0716867268079	0.06686	0.14579829350993453	0.14502	.	.	0.737386345863	0.72588	T	0.003952	0.03363	T	-0.573631	0.00211	T	-0.587363	0.13895	T	0.0109880224044707	0.00158	T	0.217878	0.02755	T	0.09037789	0.21146	0.12882335	0.30987	0.09037789	0.21146	0.12882335	0.30986	-1.181	0.01224	T	.	.	0.067	0.12655	B	.;.	.;.	2.755214	0.36121	20.2	0.058904364898830178	0.00016	0.01272	0.04451	N	AEFI	0.034858	0.04391	N	-1.52334207294121	0.01697	0.07427024	-1.31612094021418	0.04221	0.1986636	3.28424657957892E-5	0.03775	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.12	1.12	0.19700	5.667000	0.67736	9.785000	0.81617	-0.720000	0.03816	1.000000	0.71638	1.000000	0.68203	0.900000	0.43643	0.2062:0.0:0.7938:0.0	5.721	0.17255	915	0.20917	GRIP domain|GRIP domain|GRIP domain;GRIP domain|GRIP domain|GRIP domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.25	280.98	34	chr2	106413119	.	A	G	280.98	.	AC=3;AF=0.25;AN=12;BaseQRankSum=2.57;DP=178;ExcessHet=0;FS=14.49;MLEAC=3;MLEAF=0.25;MQ=43.44;MQRankSum=-2.944;QD=7.39;ReadPosRankSum=-2.107;SOR=3.973	GT:AD:DP:GQ:PL	1/1:0,8:8:24:265,24,0	4	1	1	0
chr2	111862567	111862567	A	C	exonic	ANAPC1	.	nonsynonymous SNV	ANAPC1:NM_022662:exon10:c.T1084G:p.S362A	.	551	954	17	0	0	17	0.00883117	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.151	.	.	.	0.0047	0.0180	0.0025	0.0059	0.0003	0.0014	0.0013	0.0139	3.84e-05	1	26028	rs753622705	0.0004	0.0044	0.0003	0.0005	0.0047	0.0004	0.0004	0.0041	0.0038	0.0047	0.0015	0.0003	0.0010	9.409e-05	0.0012	0.0001	0.0004	0.0027	6.61e-05	0.0004	3.878e-05	9.47e-05	0.0002	3.536e-05	2.631e-05	9.701e-05	7.061e-05	0.0002	0	0	0	0	0	0	1.472e-05	0	0.0002	0.17	0.22833	T	0.404	0.14818	T	0.841	0.46518	P	0.746	0.55899	P	0.079948	0.20953	U	0.221037	0.999023	0.45899	D	2.215	0.62545	M	.	.	.	-0.97	0.25770	N	0.542	0.56919	-0.7187	0.59527	T	0.275	0.64681	T	9	0.009175271	0.00207	T	.	.	.	0.151	0.39764	.	.	0.300784259202	0.29686	0.5780039866043089	0.57729	.	.	0.76539003849	0.76733	T	0.006937	0.06364	T	0.0593238	0.59528	T	-0.152562	0.59015	T	0.0335864095914406	0.02568	T	0.675932	0.28448	T	0.07947044	0.18158	0.08809113	0.20519	0.07947044	0.18158	0.08809113	0.20518	-5.076	0.37653	T	.	.	0.082	0.08560	B	.	.	3.524964	0.49431	22.8	0.99124367532288282	0.53089	0.97830	0.77447	D	AEFBI	0.838031	0.75559	D	0.557662716379584	0.70549	5.517996	0.601730172591018	0.75064	6.245122	0.972534829490776	0.29379	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.64	5.64	0.86480	7.397000	0.79162	11.183000	0.88385	0.743000	0.86499	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	1.0:0.0:0.0:0.0	14.415	0.66717	779	0.47767	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.011585	0.000000	0.016484	0.008850	0.000000	0.008929	0.007937	0.004237	0.08333	163.83	34	chr2	111862567	.	A	C	163.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.741;DP=227;ExcessHet=0;FS=7.911;MLEAC=1;MLEAF=0.083;MQ=48.79;MQRankSum=-4.908;QD=3.34;ReadPosRankSum=-0.683;SOR=2.312	GT:AD:DP:GQ:PL	0/1:38,11:49:99:174,0,970	5	0	1	0
chr2	132784614	132784614	T	C	exonic	NCKAP5	.	nonsynonymous SNV	NCKAP5:NM_207363:exon14:c.A2197G:p.K733E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.019	0.00361199838757	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.471	0.08458	T	0.829	0.03728	T	0.018	0.17786	B	0.011	0.15521	B	0.431185	0.12746	U	0.624448	1	0.08975	N	1.7	0.43825	L	1.01	0.41058	T	-0.93	0.24898	N	0.082	0.08646	-1.0207	0.23486	T	0.056	0.23715	T	10	0.04424566	0.03361	T	0.003612	0.08278	T	0.019	0.03383	0.198	0.11110	0.147330786459	0.14319	0.11503444975752376	0.11431	0.0516791353722	0.05686	0.322222530842	0.13757	T	0.005166	0.04603	T	-0.191201	0.22081	T	-0.512424	0.21066	T	0.051692031441021	0.05795	T	0.622938	0.23989	T	0.103632785	0.24496	0.08225675	0.18758	0.103632785	0.24496	0.08225675	0.18758	-4.014	0.24013	T	.	.	0.101	0.17488	B	.;.	.;.	0.433077	0.08032	4.754	0.97276644908955556	0.33163	0.03937	0.09332	N	AEBI	0.057944	0.10835	N	-0.810703354843103	0.13036	0.6394501	-0.747366538738084	0.15786	0.83203	2.77513070548194E-4	0.06300	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.620846	0.47308	0	.	.	5.2	2.77	0.31614	0.865000	0.27595	.	.	0.661000	0.55757	0.123000	0.23227	0.001000	0.17328	0.905000	0.44082	0.0:0.2652:0.1661:0.5687	4.311	0.10415	976	0.04745	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1233.83	119	chr2	132784614	.	T	C	1233.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.37;DP=440;ExcessHet=0;FS=0.864;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=15.82;ReadPosRankSum=0.438;SOR=0.688	GT:AD:DP:GQ:PL	0/1:34,44:78:99:1244,0,813	5	0	1	0
chr2	157799450	157799450	G	C	exonic	ACVR1	.	nonsynonymous SNV	ACVR1:NM_001105:exon3:c.C44G:p.A15G,ACVR1:NM_001111067:exon3:c.C44G:p.A15G,ACVR1:NM_001347663:exon3:c.C44G:p.A15G,ACVR1:NM_001347664:exon4:c.C44G:p.A15G,ACVR1:NM_001347665:exon4:c.C44G:p.A15G,ACVR1:NM_001347666:exon4:c.C44G:p.A15G,ACVR1:NM_001347667:exon4:c.C44G:p.A15G	Fibrodysplasia ossificans progressiva, Autosomal dominant	6	1446	65	5	0	75	0.0252781	.	.	.	250305	not_provided|not_specified|Progressive_myositis_ossificans	MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0007606,MedGen:C0016037,OMIM:135100,Orphanet:337	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.254	.	0.0062	0.00738818	0.0110	0.0006	0.0033	0	0.0054	0.0083	0.0231	0.0410	0.0100128	1548	154602	rs13406336	0.0088	0.0089	0.0076	0.0099	0.0404	0.0086	0.0086	0.0393	0.0389	0.0010	0.0036	0.0081	0.0001	0.0051	0.0207	0.0072	0.0090	0.0404	0.0067	0.0067	0.0064	0.0071	0.0320	0.0064	0.0062	0.0279	0.0263	0.0014	0	0.0076	0.0061	0.0002	0.0066	0.0345	0.0086	0.0048	0.0320	0.019	0.50132	D	0.134	0.34241	T	0.016	0.17332	B	0.007	0.12992	B	0.219181	0.16180	N	0.624103	0.908305	0.36344	D	0.55	0.14455	N	-2.99	0.92108	D	-0.77	0.74051	N	0.154	0.15888	-0.0828	0.80492	T	0.528	0.82472	D	10	0.004531741	0.00094	T	.	.	.	0.254	0.56428	.	.	.	.	0.3766281390763211	0.37576	0.692663828589	0.60675	0.430657148361	0.29298	T	0.487568	0.81357	T	-0.282024	0.10454	T	-0.147897	0.59429	T	0.0101925086234487	0.00138	T	0.719828	0.35417	T	0.067496	0.14622	0.0723129	0.15587	0.06910109	0.15112	0.10094586	0.24151	-4.456	0.30309	T	.	.	0.107	0.21840	B	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	2.674691	0.34877	19.75	0.99349011443502289	0.60493	0.90826	0.52333	D	AEFDBI	0.400668	0.47546	N	-0.0936229972742416	0.37671	2.195113	0.108813149421597	0.44998	2.770949	0.99999999925213	0.74766	0.706548	0.73137	0	0.573888	0.26702	0	0.659464	0.59346	0	0.714379	0.83352	0	.	.	5.84	5.84	0.93373	4.289000	0.58806	7.669000	0.64672	-0.109000	0.15193	1.000000	0.71638	1.000000	0.68203	0.907000	0.44265	0.0:0.0:1.0:0.0	17.649	0.88060	811	0.42639	.;.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.020141	0.000000	0.009511	0.008772	0.000000	0.025862	0.021341	0.075758	0.08333	760.83	37	chr2	157799450	.	G	C	760.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.672;DP=276;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=8.85;ReadPosRankSum=0.473;SOR=0.784	GT:AD:DP:GQ:PL	0/1:50,36:86:99:771,0,1211	5	0	1	0
chr2	158680478	158680478	A	T	exonic	PKP4	.	nonsynonymous SNV	PKP4:NM_001005476:exon21:c.A3251T:p.D1084V,PKP4:NM_001377225:exon21:c.A3251T:p.D1084V,PKP4:NM_001377226:exon21:c.A3248T:p.D1083V,PKP4:NM_001304969:exon22:c.A3377T:p.D1126V,PKP4:NM_001304970:exon22:c.A2351T:p.D784V,PKP4:NM_001377218:exon22:c.A3380T:p.D1127V,PKP4:NM_001377219:exon22:c.A3377T:p.D1126V,PKP4:NM_001377222:exon22:c.A3374T:p.D1125V,PKP4:NM_001377223:exon22:c.A3374T:p.D1125V,PKP4:NM_001377224:exon22:c.A3371T:p.D1124V,PKP4:NM_003628:exon22:c.A3380T:p.D1127V,PKP4:NM_001377220:exon23:c.A3377T:p.D1126V,PKP4:NM_001377221:exon23:c.A3377T:p.D1126V	.	455	1052	11	4	0	19	0.0089496	.	.	.	719333	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.646	0.106998707454	0.0036	0.00159744	0.0032	0.0005	0.0013	0	0.0003	0.0053	0	0.0010	0.0033311	515	154602	rs148782148	0.0043	0.0043	0.0044	0.0042	0.0057	0.0042	0.0042	0.0050	0.0049	0.0008	0.0025	0.0033	0	0.0011	0.0057	0.0051	0.0039	0.0010	0.0033	0.0033	0.0032	0.0035	0.0059	0.0031	0.0030	0.0050	0.0046	0.0008	0.0318	0.0059	0.0017	0	0.0005	0.0408	0.0047	0.0024	0.0004	0.001	0.78490	D	0.006	0.70582	D	0.999	0.90584	D	0.952	0.71741	D	0.027796	0.25702	N	0.416960	1	0.81001	D	1.59	0.40313	L	-1.1	0.77336	T	-2.49	0.60665	N	0.83	0.82559	-0.0623	0.80944	T	0.387	0.74246	T	10	0.009985596	0.00224	T	0.106999	0.78287	D	0.646	0.86586	.	.	0.93031684865	0.92960	0.7301227855729024	0.72957	0.845700684657	0.68286	0.654403448105	0.60611	T	0.207492	0.83003	T	0.0278741	0.55439	T	0.27057	0.86605	D	0.0291081936171927	0.01854	T	0.986301	0.95349	D	0.30877057	0.53680	0.3825057	0.63235	0.30877057	0.53680	0.3825057	0.63235	-6.845	0.52893	T	.	.	0.672	0.74816	P	.;.;.	.;.;.	4.566385	0.72000	25.8	0.99465783778614858	0.66049	0.99041	0.90363	D	AEFGBI	0.924285	0.90208	D	0.656005042019324	0.76759	6.545936	0.700162305018979	0.82392	7.755	0.999999484586198	0.74766	0.706298	0.61202	0	0.709663	0.81188	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.49	5.49	0.81022	8.867000	0.91934	.	.	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	1.0:0.0:0.0:0.0	15.889	0.79069	851	0.35303	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.010081	0.020408	0.006793	0.000000	0.000000	0.017241	0.018293	0.003788	0.08333	1428.83	33	chr2	158680478	.	A	T	1428.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.979;DP=303;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.16;ReadPosRankSum=-0.837;SOR=0.737	GT:AD:DP:GQ:PL	0/1:74,54:128:99:1439,0,2013	5	0	1	0
chr2	162047005	162047005	A	T	exonic	DPP4	.	nonsynonymous SNV	DPP4:NM_001379604:exon4:c.T192A:p.D64E,DPP4:NM_001379605:exon4:c.T189A:p.D63E,DPP4:NM_001379606:exon4:c.T195A:p.D65E,DPP4:NM_001935:exon4:c.T195A:p.D65E	.	508	1006	8	0	0	8	0.0039604	0.0002	0.016	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.395	0.0779797569933	.	0.000399361	0.0005	0	0	0	0	3.224e-05	0	0.0036	0.0003816	59	154602	rs200443496	0.0003	0.0003	0.0001	0.0004	0.0038	0.0003	0.0002	0.0035	0.0034	3.234e-05	0.0007	0	0	0	0.0017	2.205e-05	0.0003	0.0038	0.0005	0.0005	0.0002	0.0008	0.0036	0.0004	0.0004	0.0028	0.0026	0	0	0.0036	0	0	0	0	5.879e-05	0.0005	0.0033	0.428	0.09600	T	0.345	0.92824	T	0.0	0.02946	B	0.001	0.04355	B	0.000004	0.62929	D	0.108531	0.656902	0.33015	D	2.125	0.59049	M	-4.55	0.97753	D	-2.27	0.50666	N	0.39	0.44090	0.279	0.87222	D	0.810	0.93586	D	10	0.014040172	0.00296	T	0.07798	0.72898	D	0.395	0.71004	0.468	0.54052	0.903976142794	0.90302	0.7722326810168741	0.77173	0.128479209888	0.14485	0.516181826591	0.41089	T	0.745203	0.92975	D	-0.208964	0.19524	T	-0.0750442	0.65264	T	0.0267940643931501	0.01515	T	0.686731	0.31637	T	0.33033878	0.55499	0.12150165	0.29316	0.33033878	0.55499	0.12150165	0.29316	-4.887	0.35589	T	.	.	0.382	0.60275	A	.;.	.;.	1.893076	0.24047	16.25	0.98428285072011756	0.41364	0.36582	0.25566	N	AEFBI	0.090964	0.18430	N	-0.360333057197436	0.26896	1.471381	-0.241347461093422	0.30071	1.689988	0.742560789817965	0.23235	0.651	0.46895	0	0.708844	0.79440	0	0.547309	0.15389	0	0.668105	0.65232	0	.	.	6.04	0.676	0.17125	0.938000	0.28562	5.314000	0.48272	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.5675:0.0:0.2771:0.1554	3.651	0.07740	490	0.76723	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002022	0.005102	0.000000	0.002941	0.000000	0.000000	0.003067	0.003788	0.08333	467.83	36	chr2	162047005	.	A	T	467.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.61;DP=227;ExcessHet=0;FS=6.937;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=9.17;ReadPosRankSum=-0.651;SOR=1.885	GT:AD:DP:GQ:PL	0/1:33,18:51:99:478,0,868	5	0	1	0
chr2	178112843	178112843	C	G	exonic	RBM45	.	nonsynonymous SNV	RBM45:NM_001365578:exon1:c.C297G:p.I99M,RBM45:NM_001365579:exon1:c.C297G:p.I99M,RBM45:NM_152945:exon1:c.C297G:p.I99M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.607	0.418342681459	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.005	0.63226	D	0.017	0.60337	D	0.514	0.37393	P	0.262	0.39564	B	0.000014	0.62929	D	0.110395	0.999997	0.58761	D	1.735	0.44892	L	-2.01	0.85468	D	-1.74	0.41239	N	0.509	0.60071	-0.1693	0.78445	T	0.514	0.81797	D	10	0.56852406	0.65187	D	0.418343	0.93741	D	0.607	0.84559	0.588	0.71623	0.793670465417	0.79175	0.3486881836509563	0.34782	1.15342620932	0.79294	0.565043926239	0.47978	T	0.073126	0.34621	T	0.116315	0.66001	D	-0.0706974	0.65576	T	0.957663774490356	0.65069	D	0.89601	0.63722	D	0.14579736	0.33405	0.2661218	0.52453	0.14579736	0.33405	0.2661218	0.52452	-6.552	0.50709	T	.	.	0.371	0.57884	A	.;.	.;.	2.380663	0.30556	18.47	0.99165730184520595	0.54241	0.29734	0.23900	N	AEFDGBHCI	0.244318	0.36544	N	-0.244276019323509	0.31333	1.755817	-0.228196455916849	0.30530	1.719799	0.999999901225285	0.74766	0.441713	0.08003	0	0.484254	0.07192	0	0.52208	0.10781	0	0.372554	0.06265	0	.	.	4.81	1.91	0.24841	0.175000	0.16577	.	.	-0.233000	0.07663	0.847000	0.30396	1.000000	0.68203	0.981000	0.58702	0.1394:0.5919:0.2687:0.0	10.683	0.45024	468	0.78227	RNA recognition motif domain|RNA recognition motif domain|RBM45, RNA recognition motif 1;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	753.83	38	chr2	178112843	.	C	G	753.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.973;DP=238;ExcessHet=0;FS=16.457;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=16.04;ReadPosRankSum=-1.917;SOR=3.493	GT:AD:DP:GQ:PL	0/1:23,24:47:99:764,0,655	5	0	1	0
chr2	178537539	178537539	C	T	exonic	TTN	.	nonsynonymous SNV	TTN:NM_003319:exon183:c.G72473A:p.R24158H,TTN:NM_133432:exon184:c.G72848A:p.R24283H,TTN:NM_133437:exon184:c.G73049A:p.R24350H,TTN:NM_133378:exon304:c.G91964A:p.R30655H,TTN:NM_001256850:exon305:c.G94745A:p.R31582H,TTN:NM_001267550:exon355:c.G99668A:p.R33223H	Cardiomyopathy, dilated, 1G;Cardiomyopathy, familial hypertrophic, 9;Muscular dystrophy, limb-girdle, type 2J, Autosomal recessive;Myopathy, early-onset, with fatal cardiomyopathy, Autosomal recessive;Myopathy, proximal, with early respiratory muscle involvement;Tibial muscular dystrophy, tardive, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	56782	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.465	0.0496650999619	8.4e-05	.	7.49e-05	0.0002	0	0.0008	0	0	0	0	5.82e-05	9	154602	rs369081242	4.037e-05	4.036e-05	5.038e-05	3.026e-05	0.0003	3.179e-05	2.911e-05	0.0002	0.0001	0.0003	6.711e-05	0	5.041e-05	0	0	2.878e-05	0.0002	2.319e-05	7.884e-05	7.875e-05	7.712e-05	8.063e-05	0.0003	4.496e-05	3.512e-05	0.0001	0.0001	0.0003	0	0	0	0	0	0	1.47e-05	0	0	0.029	0.45756	D	.	.	.	1.0	0.90584	D	1.0	0.97372	D	.	.	.	.	1	0.81001	D	1.5	0.37844	L	-0.26	0.67187	T	-3.62	0.70920	D	0.437	0.68429	-0.1778	0.78236	T	0.443	0.78008	T	9	0.20046318	0.36094	T	0.049665	0.63910	D	0.465	0.76089	.	.	0.445811967706	0.44203	.	.	0.516134083605	0.49506	0.606586694717	0.53834	T	.	.	.	-0.222043	0.17715	T	-0.200349	0.54614	T	0.222239719542583	0.21575	T	0.967203	0.88094	D	.	.	.	.	.	.	.	.	-4.914	0.35892	T	.	.	0.291	0.52285	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	3.592552	0.50700	23.0	0.94683432080247365	0.25320	0.98525	0.83712	D	AEFBI	0.926771	0.90840	D	0.80803291286198	0.86608	8.939585	0.828646489481749	0.91708	11.02671	1.0	0.98316	0.562547	0.31514	0	0.653731	0.59785	0	0.463624	0.06942	0	0.664235	0.64389	0	.	.	5.89	5.89	0.94758	7.905000	0.86479	.	.	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:1.0:0.0:0.0	20.256	0.98423	384	0.83545	.;.;Immunoglobulin I-set|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin I-set|Immunoglobulin subtype 2|Immunoglobulin subtype;.;Immunoglobulin I-set|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin I-set|Immunoglobulin subtype 2|Immunoglobulin subtype	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1298.83	37	chr2	178537539	.	C	T	1298.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.846;DP=264;ExcessHet=0;FS=1.742;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.93;ReadPosRankSum=1.06;SOR=0.826	GT:AD:DP:GQ:PL	0/1:39,48:87:99:1309,0,980	5	0	1	0
chr2	182838511	182838511	C	T	exonic	FRZB	.	nonsynonymous SNV	FRZB:NM_001463:exon4:c.G695A:p.R232Q	.	406	1110	6	0	0	6	0.00269542	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.143	0.0305214079491	0.0035	0.000599042	0.0029	0.0009	0.0013	0	0.0041	0.0042	0	0.0012	0.0028784	445	154602	rs112797950	0.0038	0.0038	0.0039	0.0036	0.0044	0.0037	0.0036	0.0043	0.0043	0.0005	0.0014	7.668e-05	5.04e-05	0.0031	0.0007	0.0044	0.0038	0.0013	0.0026	0.0026	0.0025	0.0027	0.0036	0.0024	0.0023	0.0032	0.0031	0.0011	0	0.0036	0	0	0.0041	0	0.0036	0.0024	0.0010	0.051	0.39334	T	0.255	0.23365	T	0.251	0.31212	B	0.064	0.27215	B	0.000003	0.62929	D	0.104089	0.757069	0.33995	D	1.355	0.33814	L	1.96	0.22270	T	-0.54	0.16598	N	0.777	0.77413	-1.0469	0.15274	T	0.026	0.10998	T	10	0.03897211	0.02353	T	0.030521	0.52811	D	0.143	0.38195	.	.	0.551426384634	0.54799	0.3677574032874709	0.36689	0.864415573168	0.69143	0.271767169237	0.06373	T	0.21636	0.57849	T	-0.333663	0.05839	T	-0.249449	0.49871	T	0.00927267611988974	0.00118	T	0.90061	0.65471	D	0.070112444	0.15415	0.07648145	0.16945	0.070112444	0.15415	0.07648145	0.16944	-5.195	0.38891	T	.	.	0.101	0.17742	B	.	.	4.401843	0.68021	25.2	0.99703923718043208	0.80867	0.69529	0.34224	D	AEFDBI	0.221322	0.34597	N	-0.148305550714185	0.35306	2.026313	-0.0237421297206478	0.38644	2.279797	0.00542371452313988	0.10934	0.706298	0.61202	0	0.588015	0.36545	0	0.709663	0.75317	0	0.530356	0.10902	0	.	.	5.39	3.59	0.40253	1.296000	0.32994	0.395000	0.17934	0.599000	0.40250	0.998000	0.41325	0.002000	0.18203	0.992000	0.67800	0.0:0.6853:0.0:0.3147	7.598	0.27226	592	0.68746	Netrin module, non-TIMP type|Netrin domain|Netrin module, non-TIMP type|Secreted frizzled-related protein 3, NTR domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.008621	0.000000	0.000000	0.08333	552.83	33	chr2	182838511	.	C	T	552.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.335;DP=221;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.48;ReadPosRankSum=0.197;SOR=0.776	GT:AD:DP:GQ:PL	0/1:18,23:41:99:563,0,413	5	0	1	0
chr2	197523648	197523648	T	C	exonic	HSPE1-MOB4;MOB4	.	nonsynonymous SNV	MOB4:NM_015387:exon2:c.T85C:p.S29P,HSPE1-MOB4:NM_001202485:exon3:c.T193C:p.S65P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.267	0.00959765325218	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.265e-05	0.0013	8.89e-05	9.642e-05	0.0001	7.932e-05	7.455e-05	9.055e-05	8.505e-05	3.135e-05	0	0.0001	0	0	0	0.0001	8.651e-05	8.389e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	0.579	0.08535	T	0.0	0.02946	B	0.001	0.04355	B	0.000000	0.84330	D	0.053972	0.999993	0.81001	D	-1.795	0.00292	N	.	.	.	1.18	0.01107	N	0.438	0.48042	-0.9766	0.35772	T	0.034	0.14813	T	9	0.10651526	0.19742	T	0.009598	0.25107	T	0.267	0.58126	0.341	0.33302	0.043077524339	0.03247	0.669975451478545	0.66935	1.34794577022	0.84014	0.778468906879	0.78697	T	0.055673	0.30073	T	0.0500577	0.58352	T	-0.165872	0.57820	T	0.811242938041687	0.47136	D	0.892711	0.63097	D	0.20700711	0.42893	0.20881961	0.45200	0.20700711	0.42893	0.20881961	0.45199	-0.876	0.00872	T	.	.	0.084	0.09820	B	.;.	.;.	3.297964	0.45264	22.1	0.8980768734361223	0.19119	0.98559	0.84088	D	AEFBI	0.838587	0.75609	D	-0.516315308048682	0.21553	1.144632	-0.200201322439165	0.31530	1.785231	0.986724794269661	0.31114	0.732398	0.92422	0	0.724815	0.89359	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	5.02	5.02	0.66742	5.652000	0.67632	7.608000	0.61804	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:0.0:1.0	14.399	0.66596	474	0.77851	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	186.71	43	chr2	197523648	.	T	C	186.71	.	AC=2;AF=0.5;AN=4;BaseQRankSum=-0.62;DP=213;ExcessHet=0.5115;FS=135.166;MLEAC=3;MLEAF=0.75;MQ=60;MQRankSum=0;QD=2.12;ReadPosRankSum=1.34;SOR=6.516	GT:AD:DP:GQ:PL	0/1:31,14:45:99:110,0,503	0	0	2	4
chr2	202918042	202918042	A	C	exonic	CARF	.	nonsynonymous SNV	CARF:NM_001282912:exon2:c.A41C:p.K14T,CARF:NM_001322429:exon2:c.A41C:p.K14T	.	436	1084	2	0	0	2	0.000921659	0.6988	0.672	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.047	0.00421114013075	.	0.000798722	0.0048	0	0	0	.	0	0.0085	0.0067	0.0003558	55	154602	rs559310200	0.0014	0.0007	0.0006	0.0020	0.0071	0.0013	0.0013	0.0065	0.0063	0	0	0	0	0	0.0004	0	0.0007	0.0071	0.0002	0.0002	7.71e-05	0.0003	0.0052	0.0001	0.0001	0.0036	0.0031	0	0	0	0	0	0	0	1.47e-05	0	0.0052	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	134.83	13	chr2	202918042	.	A	C	134.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.054;DP=97;ExcessHet=0;FS=1.83;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=7.1;ReadPosRankSum=-0.931;SOR=1.179	GT:AD:DP:GQ:PL	0/1:12,7:19:99:145,0,343	5	0	1	0
chr2	206306587	206306587	C	T	exonic	ZDBF2	.	nonsynonymous SNV	ZDBF2:NM_020923:exon5:c.C2059T:p.R687C,ZDBF2:NM_001369654:exon6:c.C2059T:p.R687C,ZDBF2:NM_001285549:exon7:c.C2053T:p.R685C	.	426	1086	10	0	0	10	0.00458295	.	.	.	697264	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.072	.	0.0035	0.00379393	0.0040	0.0009	0.0015	0.0002	0.0006	0.0040	0.0068	0.0107	0.0039844	616	154602	rs192597586	0.0047	0.0047	0.0045	0.0049	0.0095	0.0046	0.0046	0.0090	0.0088	0.0005	0.0021	0.0026	5.039e-05	0.0004	0.0033	0.0050	0.0041	0.0095	0.0030	0.0030	0.0032	0.0027	0.0077	0.0027	0.0026	0.0057	0.0050	0.0007	0.0044	0.0028	0.0040	0	0.0004	0	0.0046	0.0014	0.0077	0.072	0.34982	T	0.03	0.54159	D	0.143	0.27649	B	0.005	0.11217	B	0.204098	0.16527	N	0.460073	1	0.08975	N	0	0.06538	N	0.88	0.46028	T	-0.02	0.07299	N	0.073	0.04668	-1.0676	0.09948	T	0.027	0.11751	T	10	0.004863441	0.00104	T	.	.	.	0.072	0.21020	.	.	0.18995819373	0.18626	0.05791993812508963	0.05732	0.0862770978425	0.09741	0.234137713909	0.02288	T	0.00349	0.09129	T	-0.655254	0.00067	T	-0.706042	0.05501	T	0.0121225805317121	0.00193	T	.	.	.	0.05399236	0.10297	0.033078384	0.02143	0.05399236	0.10296	0.033078384	0.02143	-5.108	0.37991	T	.	.	0.101	0.17742	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	0.946820	0.13229	9.728	0.92072997945247037	0.21420	0.02386	0.06774	N	AEFBI	0.038963	0.05590	N	-1.07273575931547	0.07149	0.3312424	-1.09082094671271	0.07880	0.3851052	0.117035133085202	0.16792	0.651	0.46895	0	0.708844	0.79440	0	0.65145	0.50148	0	0.586402	0.36253	0	.	.	4.51	0.754	0.17558	-1.458000	0.02478	-1.114000	0.06289	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.1723:0.473:0.1669:0.1877	1.523	0.02367	875	0.30485	.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.003788	0.08333	1747.83	87	chr2	206306587	.	C	T	1747.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.387;DP=420;ExcessHet=0;FS=0.704;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=15.2;ReadPosRankSum=0.139;SOR=0.602	GT:AD:DP:GQ:PL	0/1:48,67:115:99:1758,0,1108	5	0	1	0
chr2	209976964	209976964	A	G	exonic	UNC80	.	nonsynonymous SNV	UNC80:NM_032504:exon57:c.A8626G:p.I2876V,UNC80:NM_182587:exon57:c.A8611G:p.I2871V,UNC80:NM_001371986:exon58:c.A8824G:p.I2942V	Hypotonia, infantile, with psychomotor retardation and characteristic facies 2, Autosomal recessive	425	1092	5	0	0	5	0.00228415	.	.	.	1570094	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.221	.	.	0.00678914	0.0102	0	0.0025	0	0	0.0003	0.0042	0.0274	0.0016817	260	154602	rs545874590	0.0016	0.0015	0.0009	0.0024	0.0262	0.0016	0.0015	0.0253	0.0249	0	0.0001	0	2.844e-05	0.0002	0.0039	3.951e-05	0.0015	0.0262	0.0009	0.0009	0.0004	0.0013	0.0255	0.0007	0.0007	0.0219	0.0205	4.81e-05	0	0	0	0.0004	0.0002	0	1.47e-05	0	0.0255	0.122	0.34621	T	0.0	0.92824	D	0.65	0.40644	P	0.743	0.55802	P	.	.	.	.	0.999096	0.46054	D	0.425	0.12573	N	1.36	0.34452	T	-0.74	0.22508	N	0.387	0.45237	-0.8597	0.51284	T	0.112	0.40052	T	9	0.0047326684	0.00100	T	.	.	.	0.221	0.51721	0.239	0.17065	0.239305524855	0.23518	0.8829710913211554	0.88265	0.804979276587	0.66421	0.70993578434	0.68584	T	0.055776	0.30101	T	-0.416372	0.01805	T	-0.351269	0.39060	T	0.0768926563031052	0.09585	T	0.916408	0.73679	D	0.13228373	0.30807	0.16224541	0.37698	0.095843606	0.22563	0.16652462	0.38465	-3.463	0.16572	T	0.17081618414334662	0.21499	0.168	0.36947	B	.;.;.	.;.;.	3.609684	0.51028	23.0	0.99864573978875915	0.94276	0.97193	0.73238	D	AEHCI	0.913492	0.87556	D	0.261402319133583	0.54206	3.586733	0.29892841644106	0.55475	3.710705	0.999893821480129	0.45129	0.594549	0.33734	0	0.573888	0.26702	0	0.597571	0.31856	0	0.542086	0.14980	0	.	.	5.39	5.39	0.77615	7.280000	0.77977	9.379000	0.80502	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.911000	0.44643	1.0:0.0:0.0:0.0	15.411	0.74646	748	0.52143	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.001256	0.000000	0.000000	0.000000	0.000000	0.000000	0.005952	0.013158	0.08333	1761.83	33	chr2	209976964	.	A	G	1761.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.8;DP=335;ExcessHet=0;FS=1.996;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.08;ReadPosRankSum=0.611;SOR=0.759	GT:AD:DP:GQ:PL	0/1:91,68:159:99:1772,0,2363	5	0	1	0
chr2	210017836	210017836	C	A	exonic	RPE	.	nonsynonymous SNV	RPE:NM_001318927:exon6:c.C611A:p.A204D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.051	0.000684127869841	.	.	.	.	.	.	.	.	.	.	.	.	.	rs934212512	0	1.57e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.152	0.45039	T	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	0.91	0.44856	T	-1.51	0.36787	N	0.108	0.09914	-1.0056	0.28277	T	0.079	0.31284	T	4	0.12419018	0.23585	T	6.84E-4	0.00400	T	0.051	0.14325	0.394	0.41935	0.223146558224	0.21909	.	.	.	.	.	.	.	0.30414	0.67646	T	-0.304193	0.08269	T	-0.674729	0.07309	T	0.0388248983945665	0.03479	T	0.947605	0.79780	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.112	0.22644	B	.;.	.;.	0.356660	0.07293	3.903	0.32738567776136618	0.01913	0.01614	0.05222	N	AEFBI	0.033356	0.03938	N	-0.740981915825071	0.14879	0.7450317	-0.985858281129147	0.10103	0.5067107	0.0387554127150278	0.14362	0.562547	0.31514	0	0.653731	0.59785	0	0.608884	0.39905	0	0.491896	0.07777	0	.	.	0.225	0.225	0.14598	0.483000	0.22001	-0.637000	0.08096	0.327000	0.19478	0.001000	0.13787	0.000000	0.08366	0.004000	0.06068	.	.	.	734	0.53889	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	30.01	4	chr2	210017836	.	C	A	30.01	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.967;DP=36;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10;ReadPosRankSum=0.967;SOR=0.223	GT:AD:DP:GQ:PL	0/1:1,2:3:32:40,0,32	5	0	1	0
chr2	217895047	217895047	G	C	exonic	TNS1	.	nonsynonymous SNV	TNS1:NM_001308022:exon6:c.C178G:p.L60V,TNS1:NM_001308023:exon7:c.C178G:p.L60V,TNS1:NM_022648:exon7:c.C178G:p.L60V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.767	0.233134763588	.	0.000199681	4.096e-05	0	0	0	0	0	0	0.0003	4.53e-05	7	154602	rs550206581	2.192e-05	2.394e-05	9.538e-06	3.445e-05	0.0004	1.587e-05	1.358e-05	0.0003	0.0002	0	0	0	0	0	0	0	0	0.0004	2.626e-05	2.625e-05	1.285e-05	4.028e-05	0.0008	8.14e-06	5.14e-06	0.0003	0.0002	0	0	0	0	0	0	0	0	0	0.0008	0.032	0.72154	D	0.0	0.92824	D	0.998	0.77913	D	0.996	0.84481	D	0.374294	0.13481	U	0.281534	1	0.81001	D	2.47	0.71715	M	-5.25	0.98917	D	-2.72	0.60188	D	0.719	0.87590	1.011	0.97373	D	0.954	0.98511	D	10	0.57177246	0.65359	D	0.233135	0.88353	D	0.767	0.92129	0.65	0.78753	0.938642112973	0.93800	0.6245673244254387	0.62389	0.427907159633	0.43126	0.613863825798	0.54861	T	0.429	0.77821	T	0.249073	0.78516	D	0.452064	0.93627	D	0.504784641520107	0.32805	D	0.979435	0.93314	D	0.27956825	0.51007	0.17998526	0.40768	0.27956825	0.51007	0.17998526	0.40767	-6.611	0.51138	T	.	.	0.402	0.61161	A	.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.	4.863025	0.79599	27.1	0.99798521126835948	0.88372	0.99381	0.95289	D	AEFBI	0.909330	0.86581	D	0.712569490652993	0.80457	7.298306	0.719816133312373	0.83884	8.140192	0.99999999996402	0.74766	0.651	0.46895	0	0.610034	0.51514	0	0.602189	0.34648	0	0.683762	0.67416	0	.	.	5.41	5.41	0.78313	6.552000	0.73813	9.813000	0.81759	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0773:0.0:0.9227:0.0	12.341	0.54423	931	0.16308	Tensin-type phosphatase domain;Tensin-type phosphatase domain;Tensin-type phosphatase domain;Tensin-type phosphatase domain;Tensin-type phosphatase domain;Tensin-type phosphatase domain;Tensin-type phosphatase domain;.;Tensin-type phosphatase domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	839.83	35	chr2	217895047	.	G	C	839.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.337;DP=265;ExcessHet=0;FS=4.289;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.37;ReadPosRankSum=0.568;SOR=1.152	GT:AD:DP:GQ:PL	0/1:43,38:81:99:850,0,1092	5	0	1	0
chr2	219299786	219299786	C	A	exonic	PTPRN	.	nonsynonymous SNV	PTPRN:NM_001199764:exon10:c.G1167T:p.K389N,PTPRN:NM_002846:exon10:c.G1437T:p.K479N	.	.	.	.	.	.	.	.	0.5728	0.724	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.024	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.064e-06	7.525e-06	2.734e-06	1.385e-06	2.711e-06	5.5e-07	1.5e-07	7.2e-07	2e-07	0	0	0	0	0	0	2.711e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.152	0.24468	T	0.341	0.19246	T	0.018	0.17786	B	0.043	0.24256	B	0.000639	0.42799	D	0.150121	0.996115	0.81001	D	1.265	0.31966	L	3.78	0.03836	T	0.11	0.05706	N	0.455	0.59053	-0.9336	0.43605	T	0.011	0.03996	T	10	0.19189817	0.34895	T	0.010957	0.28083	T	0.024	0.04979	0.361	0.36548	0.347659731818	0.34379	0.3499602003332976	0.34910	0.177862269628	0.20012	0.684518575668	0.64918	T	0.14313	0.47908	T	-0.283494	0.10301	T	-0.644996	0.09309	T	0.609578549861908	0.36784	D	0.845515	0.52437	T	0.3312488	0.55573	0.16523191	0.38235	0.3312488	0.55573	0.16523191	0.38234	-5.246	0.39406	T	.	.	0.353	0.59381	A	.;.	.;.	3.637174	0.51552	23.1	0.99314868292525238	0.59166	0.80218	0.39914	D	AEFBI	0.396817	0.47314	N	-0.3740078765234	0.26399	1.440433	-0.192071604120603	0.31826	1.804843	0.990364766742167	0.32128	0.676563	0.55306	0	0.627178	0.54094	0	0.673471	0.61138	0	0.63947	0.58350	0	.	.	5.48	3.66	0.41111	2.166000	0.42032	2.195000	0.31239	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.7744:0.0:0.2256	9.586	0.38682	142	0.94345	Protein-tyrosine phosphatase receptor IA-2 ectodomain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	540.83	37	chr2	219299786	.	C	A	540.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-3.548;DP=214;ExcessHet=0;FS=10.793;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=15.02;ReadPosRankSum=-0.032;SOR=0.411	GT:AD:DP:GQ:PL	0/1:14,22:36:99:551,0,422	5	0	1	0
chr2	219329210	219329210	C	T	exonic	RESP18	.	nonsynonymous SNV	RESP18:NM_001007089:exon5:c.G508A:p.E170K	.	415	1102	4	0	1	5	0.00181159	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.058	.	.	0.00439297	0.0081	0	0	0	0	0.0001	0	0.0226	0.0013519	209	154602	rs183914238	0.0014	0.0013	0.0008	0.0020	0.0219	0.0014	0.0013	0.0211	0.0207	0.0001	2.801e-05	0	2.798e-05	0	0.0011	0.0001	0.0015	0.0219	0.0007	0.0008	0.0004	0.0011	0.0216	0.0006	0.0006	0.0182	0.0170	4.815e-05	0	6.542e-05	0	0	0	0	5.88e-05	0	0.0216	1.0	0.00964	T	1.0	0.01155	T	.	.	.	.	.	.	0.224205	0.16067	N	0.522054	1	0.08975	N	.	.	.	.	.	.	2.81	0.01297	N	0.091	0.11054	-0.9736	0.36431	T	0.011	0.03996	T	9	0.0026642084	0.00041	T	.	.	.	0.058	0.16647	0.314	0.28935	0.0138822411134	0.00435	0.0434148248986803	0.04286	.	.	0.286160767078	0.08366	T	.	.	.	-0.581014	0.00190	T	-0.590443	0.13627	T	0.00505000751167185	0.00054	T	0.383762	0.09387	T	0.03423236	0.03801	0.04557807	0.06165	0.03423236	0.03800	0.04557807	0.06165	-3.366	0.15490	T	.	.	0.056	0.00505	B	.;.	.;.	0.972154	0.13494	10.01	0.09849512384144897	0.00110	0.00483	0.02300	N	AEFBI	0.025444	0.01743	N	-1.26428118227562	0.04114	0.1850644	-1.04109978934019	0.08893	0.4395568	0.00500837972676864	0.10793	0.497415	0.19182	0	0.59043	0.45803	0	0.59043	0.30614	0	0.542086	0.14980	0	.	.	4.65	3.49	0.39065	1.205000	0.31914	0.574000	0.19636	-0.117000	0.14459	0.782000	0.29497	0.006000	0.19429	0.360000	0.25886	0.0:0.1005:0.0:0.8995	7.299	0.25581	99	0.95913	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001116	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.011364	0.08333	739.83	35	chr2	219329210	.	C	T	739.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.774;DP=242;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.88;ReadPosRankSum=-1.025;SOR=0.593	GT:AD:DP:GQ:PL	0/1:35,33:68:99:750,0,904	5	0	1	0
chr2	219571114	219571114	G	C	exonic	OBSL1	.	nonsynonymous SNV	OBSL1:NM_001173408:exon1:c.C119G:p.P40R,OBSL1:NM_001173431:exon1:c.C119G:p.P40R,OBSL1:NM_015311:exon1:c.C119G:p.P40R	3-M syndrome 2	2	1516	4	0	0	4	0.00131752	.	.	.	190545	not_provided|not_specified	MedGen:C3661900|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.136	.	0.0062	0.00898562	0.0061	0.1283	0.0062	0	0	0.0007	0	0.0002	0.0015588	241	154602	rs191256186	0.0009	0.0009	0.0010	0.0008	0.0334	0.0008	0.0008	0.0316	0.0308	0.0334	0.0014	0	0	0	0.0037	3.912e-05	0.0026	0.0002	0.0089	0.0088	0.0088	0.0090	0.0304	0.0085	0.0083	0.0291	0.0285	0.0304	0	0.0037	0	0	0	0.0034	8.839e-05	0.0085	0	1.0	0.02981	T	0.939	0.03921	T	0.998	0.73220	D	0.951	0.68939	D	.	.	.	.	1	0.20991	N	0.095	0.08423	N	-0.25	0.67011	T	0.58	0.02598	N	0.375	0.41656	-1.0080	0.27541	T	0.071	0.28936	T	8	0.006937504	0.00158	T	.	.	.	0.136	0.36778	.	.	0.735208223782	0.73285	0.19937589396391597	0.19854	1.38266898386	0.84814	0.902172088623	0.96678	D	0.012941	0.11287	T	-0.414454	0.01857	T	-0.345799	0.39685	T	0.019541290595098	0.00658	T	0.80002	0.45098	T	0.08974253	0.20977	0.07846849	0.17579	0.10704748	0.25313	0.08851186	0.20641	-4.451	0.30744	T	.	.	0.097	0.35705	B	.;.;.;.	.;.;.;.	2.023078	0.25711	16.86	0.66209961794661421	0.07992	0.05771	0.11703	N	ALL	0.050392	0.08802	N	-0.505460899654113	0.21903	1.165792	-0.518417543898421	0.21654	1.172381	0.999999934977854	0.74766	0.733237	0.96898	0	0.59043	0.45803	0	0.600757	0.32118	0	0.603991	0.37454	0	.	.	3.63	2.74	0.31352	1.132000	0.31031	6.139000	0.54026	0.551000	0.28136	0.043000	0.21118	1.000000	0.68203	0.009000	0.08673	0.108:0.2693:0.4542:0.1685	2.589	0.04544	116	0.95299	Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.007150	0.005319	0.015027	0.005952	0.000000	0.000000	0.000000	0.000000	0.08333	957.83	37	chr2	219571114	.	G	C	957.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.86;DP=278;ExcessHet=0;FS=2.897;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.54;ReadPosRankSum=0.068;SOR=1.041	GT:AD:DP:GQ:PL	0/1:39,44:83:99:968,0,767	5	0	1	0
chr2	221455601	221455601	G	A	exonic	EPHA4	.	nonsynonymous SNV	EPHA4:NM_001304537:exon7:c.C1508T:p.S503L,EPHA4:NM_001363748:exon8:c.C1661T:p.S554L,EPHA4:NM_004438:exon8:c.C1661T:p.S554L,EPHA4:NM_001304536:exon9:c.C1661T:p.S554L	.	.	.	.	.	.	.	.	.	.	.	1926831	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.098	0.00761668283233	.	.	9.95e-05	0	0	0	0	0.0002	0	0	7.76e-05	12	154602	rs768964879	9.373e-05	9.371e-05	9.666e-05	9.077e-05	8.946e-05	8.093e-05	7.585e-05	2.985e-05	1.804e-05	5.976e-05	8.946e-05	0.0031	0	0	0	2.878e-05	0.0003	0	9.858e-05	0.0001	6.424e-05	0.0001	0.0003	6.007e-05	4.881e-05	8.881e-05	5.389e-05	0	0	0.0003	0.0017	0	0	0	5.879e-05	0.0005	0	0.044	0.41096	D	0.28	0.21678	T	0.007	0.14184	B	0.005	0.11217	B	0.001205	0.39820	N	0.246616	0.99608	0.43008	D	0.78	0.19475	N	3.0	0.09167	T	-1.31	0.34198	N	0.469	0.50508	-0.9726	0.36648	T	0.022	0.09193	T	10	0.033327162	0.01506	T	0.007617	0.20219	T	0.098	0.28162	.	.	0.250512400709	0.24649	0.585248858980283	0.58454	0.516649995381	0.49549	0.711780011654	0.68851	T	0.074854	0.35037	T	-0.253728	0.13645	T	-0.426393	0.30345	T	0.079867363218681	0.09969	T	0.909809	0.68064	D	0.15245137	0.34607	0.12777475	0.30753	0.15245137	0.34606	0.12777475	0.30752	-2.944	0.09590	T	0.12536536274283147	0.12455	0.117	0.28863	B	.;.;.	.;.;.	4.312865	0.65945	24.9	0.99798649920601745	0.88372	0.91443	0.53544	D	AEFBCI	0.760673	0.69862	D	0.00550585904806425	0.42104	2.530729	0.249199446670954	0.52603	3.434171	0.999995182709147	0.74766	0.653281	0.48532	0	0.573888	0.26702	0	0.675528	0.61593	0	0.635551	0.53088	0	.	.	5.93	5.93	0.95888	7.254000	0.77751	11.840000	0.97786	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.977000	0.56843	0.0:0.0:1.0:0.0	20.354	0.98826	900	0.24599	Ephrin receptor, transmembrane domain;Ephrin receptor, transmembrane domain;Ephrin receptor, transmembrane domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.08333	2519.83	33	chr2	221455601	.	G	A	2519.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.421;DP=391;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.06;ReadPosRankSum=1.55;SOR=0.674	GT:AD:DP:GQ:PL	0/1:101,108:209:99:2530,0,2186	5	0	1	0
chr2	227332589	227332589	G	A	splicing	MFF	NM_001277062:exon4:c.351+1G>A;NM_001277061:exon5:c.429+1G>A;NM_001277063:exon4:c.351+1G>A;NM_001277066:exon3:c.351+1G>A;NM_001277065:exon4:c.351+1G>A;NM_001277064:exon4:c.351+1G>A;NM_020194:exon5:c.429+1G>A;NM_001277068:exon3:c.351+1G>A;NM_001277067:exon4:c.201+1G>A	.	.	Encephalopathy due to defective mitochondrial and peroxisomal fission 2, Autosomal recessive	423	1090	7	0	2	9	0.00320073	1.0000	0.936	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs866884233	0.0007	0.0016	0.0006	0.0008	0.0039	0.0007	0.0006	0.0033	0.0031	0.0039	0.0007	0.0022	0.0004	0.0008	0.0017	0.0005	0.0011	0.0017	0.0001	0.0022	0.0001	0.0001	0.0003	6.563e-05	5.32e-05	0.0002	0.0001	0.0003	0	0.0001	0	0	0	0	3.069e-05	0.0005	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.625005	0.99412	D	0.66	0.99401	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	6.971035	0.95980	35	0.99542279205671724	0.70586	0.99758	0.99249	D	AEFBI	.	.	.	1.15380122733624	0.99012	20.26834	0.989360123344271	0.98410	18.20422	0.999999999885004	0.74766	0.295142	0.05270	0	0.30413	0.05452	0	0.137589	0.03823	0	0.109871	0.03346	0	0.982612	0.88967	4.78	4.78	0.60666	7.139000	0.76905	9.911000	0.82427	0.672000	0.70159	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:0.0:1.0:0.0	18.164	0.89650	926	0.17793	.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1	164.7	35	chr2	227332589	.	G	A	164.7	.	AC=1;AF=0.1;AN=10;BaseQRankSum=0.841;DP=273;ExcessHet=0;FS=8.425;MLEAC=1;MLEAF=0.1;MQ=58.62;MQRankSum=-4.996;QD=2.61;ReadPosRankSum=-3.194;SOR=2.249	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:54,9:63:99:0|1:227332589_G_A:174,0,2218:227332589	4	0	1	1
chr2	227332590	227332590	-	CCG	splicing	MFF	NM_001277062:exon4:c.351+2->CCG;NM_001277061:exon5:c.429+2->CCG;NM_001277063:exon4:c.351+2->CCG;NM_001277066:exon3:c.351+2->CCG;NM_001277065:exon4:c.351+2->CCG;NM_001277064:exon4:c.351+2->CCG;NM_020194:exon5:c.429+2->CCG;NM_001277068:exon3:c.351+2->CCG;NM_001277067:exon4:c.201+2->CCG	.	.	Encephalopathy due to defective mitochondrial and peroxisomal fission 2, Autosomal recessive	421	1091	6	0	4	10	0.00274223	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0006	0.0016	0.0006	0.0007	0.0033	0.0006	0.0006	0.0028	0.0026	0.0033	0.0007	0.0020	0.0004	0.0007	0.0016	0.0004	0.0009	0.0015	7.93e-05	0.0020	7.757e-05	8.11e-05	0.0002	4.52e-05	3.531e-05	0.0001	8.539e-05	0.0002	0	6.559e-05	0	0	0	0	1.474e-05	0.0005	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	163.79	35	chr2	227332590	.	T	TCCG	163.79	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.76;DP=272;ExcessHet=0;FS=8.425;MLEAC=1;MLEAF=0.083;MQ=58.62;MQRankSum=-4.996;QD=2.6;ReadPosRankSum=-2.502;SOR=2.249	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:54,9:63:99:0|1:227332589_G_A:174,0,2218:227332589	5	0	1	0
chr2	227533602	227533602	A	C	exonic	AGFG1	.	nonsynonymous SNV	AGFG1:NM_001135189:exon6:c.A748C:p.K250Q,AGFG1:NM_001135188:exon7:c.A868C:p.K290Q,AGFG1:NM_004504:exon7:c.A868C:p.K290Q,AGFG1:NM_001135187:exon8:c.A940C:p.K314Q	.	.	.	.	.	.	.	.	.	.	.	3431545	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.200	0.0492670643805	.	0.000199681	6.606e-05	0	0	0	0	0	0	0.0005	5.82e-05	9	154602	rs564585540	1.642e-05	1.642e-05	1.362e-05	1.926e-05	0.0002	1.111e-05	9.34e-06	0.0002	0.0001	0	0	0	0	0	0	0	4.969e-05	0.0002	6.566e-06	6.562e-06	1.285e-05	0	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.1	0.55530	T	0.589	0.19480	T	0.99	0.73220	D	0.723	0.65999	P	0.000000	0.84330	D	0.000000	0.999979	0.58761	D	2.215	0.62545	M	1.75	0.26152	T	-1.23	0.32185	N	0.55	0.58458	-1.0394	0.17495	T	0.118	0.41473	T	10	0.12129569	0.22992	T	0.049267	0.63737	D	0.200	0.48430	0.179	0.08626	0.389052329274	0.38518	0.6664323571056183	0.66581	0.604580935756	0.55391	0.625494122505	0.56506	T	0.369262	0.73401	T	-0.198307	0.21050	T	-0.194671	0.55151	T	0.205484867095947	0.20715	T	0.909809	0.93712	D	0.43427932	0.63031	0.23411755	0.48620	0.43427932	0.63032	0.23411755	0.48619	-2.421	0.05263	T	.	.	0.400	0.65994	A	.;.;.;.;.;.	.;.;.;.;.;.	4.794133	0.77832	26.8	0.99338434746208149	0.60091	0.98712	0.85893	D	AEFGBI	0.918514	0.88768	D	0.548767258174107	0.70008	5.438716	0.5685179038714	0.72696	5.850607	0.999999979383592	0.74766	0.722319	0.85440	0	0.698795	0.70079	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.14	5.14	0.70008	8.327000	0.89925	11.260000	0.91045	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	1.0:0.0:0.0:0.0	14.953	0.70738	946	0.12043	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	885.83	35	chr2	227533602	.	A	C	885.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.185;DP=250;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.21;ReadPosRankSum=-1.212;SOR=0.674	GT:AD:DP:GQ:PL	0/1:41,38:79:99:896,0,1052	5	0	1	0
chr2	230212800	230212800	G	A	exonic	SP110	.	nonsynonymous SNV	SP110:NM_001378443:exon4:c.C544T:p.P182S,SP110:NM_001378447:exon4:c.C544T:p.P182S,SP110:NM_004509:exon4:c.C544T:p.P182S,SP110:NM_004510:exon4:c.C544T:p.P182S,SP110:NM_080424:exon4:c.C544T:p.P182S,SP110:NM_001185015:exon5:c.C562T:p.P188S,SP110:NM_001378442:exon5:c.C562T:p.P188S,SP110:NM_001378444:exon5:c.C562T:p.P188S,SP110:NM_001378445:exon5:c.C562T:p.P188S,SP110:NM_001378446:exon5:c.C562T:p.P188S	Hepatic venoocclusive disease with immunodeficiency, Autosomal recessive	0	1519	3	0	0	3	0.000986518	.	.	.	629535	Hepatic_veno-occlusive_disease-immunodeficiency_syndrome	MONDO:MONDO:0009338,MedGen:C1856128,OMIM:235550,Orphanet:79124	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.058	0.00310872859958	7.7e-05	0.000199681	0.0004	0	8.637e-05	0	0	0.0002	0.0011	0.0018	0.0002846	44	154602	rs199978387	0.0001	0.0001	9.529e-05	0.0002	0.0033	0.0001	0.0001	0.0022	0.0018	0	0	0.0006	2.519e-05	0	0.0033	3.237e-05	0.0002	0.0013	0.0001	0.0001	5.14e-05	0.0002	0.0012	6.507e-05	5.319e-05	0.0005	0.0004	0	0	6.539e-05	0.0012	0	0	0.0068	4.41e-05	0	0.0012	0.224	0.41364	T	0.914	0.31833	T	0.079	0.24468	B	0.032	0.22131	B	0.778992	0.09486	N	0.866119	1	0.08975	N	0.665	0.16292	N	3.07	0.08547	T	-1.25	0.36787	N	0.083	0.05929	-0.9192	0.45662	T	0.015	0.05994	T	10	0.012287229	0.00265	T	0.003109	0.06756	T	0.058	0.16647	.	.	0.410734915765	0.40690	0.1577991028060879	0.15700	0.485768874065	0.47451	0.231344670057	0.02069	T	0.00167	0.11459	T	-0.543108	0.00321	T	-0.577541	0.14766	T	0.00799211539779245	0.00094	T	0.608739	0.24174	T	0.038789034	0.05234	0.04558744	0.06169	0.038789034	0.05234	0.04558744	0.06168	-3.503	0.16741	T	.	.	0.105	0.19438	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	0.325301	0.06995	3.551	0.6920890838902336	0.08899	0.03313	0.08377	N	AEFDBCI	0.036317	0.04819	N	-1.1927765130691	0.05109	0.2321141	-1.2551623546001	0.05054	0.2399631	0.980831820881429	0.30182	0.67177	0.52595	0	0.702456	0.74545	0	0.653264	0.51672	0	0.635551	0.53088	0	.	.	3.97	-0.00827	0.13329	-0.884000	0.04273	-0.301000	0.10115	-0.135000	0.12811	0.000000	0.06391	0.000000	0.08366	0.024000	0.12247	0.261:0.2509:0.3384:0.1497	0.900	0.01192	859	0.33891	.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	0.000504	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.003788	0.08333	1113.83	34	chr2	230212800	.	G	A	1113.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.205;DP=245;ExcessHet=0;FS=2.195;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=15.91;ReadPosRankSum=-0.827;SOR=1.067	GT:AD:DP:GQ:PL	0/1:28,42:70:99:1124,0,694	5	0	1	0
chr2	231085055	231085055	G	T	exonic	PSMD1	.	nonsynonymous SNV	PSMD1:NM_001191037:exon15:c.G1759T:p.A587S,PSMD1:NM_002807:exon15:c.G1759T:p.A587S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.375	0.0223409710435	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.046	0.40832	D	0.104	0.47828	T	0.101	0.25775	B	0.187	0.36167	B	0.000000	0.84330	D	0.044822	1	0.81001	D	2.5	0.72771	M	1.56	0.29602	T	-2.15	0.48687	N	0.67	0.70439	0.090	0.83989	D	0.555	0.83761	D	10	0.7331447	0.74437	D	0.022341	0.45218	T	0.375	0.69358	0.724	0.85850	0.544022383524	0.54055	0.6450851880323211	0.64443	0.936043945633	0.72019	0.837375223637	0.87694	D	0.196941	0.55347	T	-0.0312758	0.47232	T	-0.282702	0.46526	T	0.790459967418065	0.45720	D	0.981102	0.93484	D	0.5161713	0.68039	0.2970641	0.55739	0.5161713	0.68040	0.2970641	0.55739	-7.479	0.58262	T	.	.	0.193	0.41249	B	.;.;.;.	.;.;.;.	3.986201	0.58638	24.0	0.99770727788100033	0.85918	0.99633	0.98183	D	AEFBI	0.953675	0.97017	D	0.724494557147827	0.81237	7.475573	0.784650224722388	0.88707	9.683898	0.999999999999927	0.74766	0.719381	0.83141	0	0.724815	0.89359	0	0.723133	0.82415	0	0.714379	0.83352	0	.	.	6.06	6.06	0.98340	10.003000	0.99689	11.892000	0.99120	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:1.0:0.0	20.640	0.99540	940	0.13648	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1107.83	38	chr2	231085055	.	G	T	1107.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.854;DP=264;ExcessHet=0;FS=1.766;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.88;ReadPosRankSum=1.24;SOR=0.894	GT:AD:DP:GQ:PL	0/1:41,45:86:99:1118,0,983	5	0	1	0
chr2	231798936	231798936	A	G	exonic	COPS7B	.	nonsynonymous SNV	COPS7B:NM_001282951:exon4:c.A443G:p.N148S,COPS7B:NM_001282949:exon5:c.A506G:p.N169S,COPS7B:NM_001282952:exon5:c.A287G:p.N96S,COPS7B:NM_001282950:exon6:c.A608G:p.N203S,COPS7B:NM_001308381:exon6:c.A608G:p.N203S,COPS7B:NM_001369483:exon6:c.A608G:p.N203S,COPS7B:NM_022730:exon6:c.A608G:p.N203S	.	425	1077	19	1	0	21	0.00965517	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.079	.	0.0015	0.00419329	0.0052	0.0005	0.0009	0.0001	0.0281	0.0033	0.0045	0.0119	0.0045278	700	154602	rs138197524	0.0035	0.0036	0.0032	0.0039	0.0119	0.0035	0.0034	0.0113	0.0111	0.0005	0.0006	0.0025	5.038e-05	0.0230	0.0043	0.0023	0.0032	0.0119	0.0039	0.0039	0.0027	0.0051	0.0112	0.0036	0.0035	0.0088	0.0079	0.0006	0	0.0005	0.0023	0	0.0294	0.0034	0.0025	0.0028	0.0112	0.218	0.21144	T	0.276	0.36901	T	0.0	0.02946	B	0.0	0.04355	B	0.112538	0.19353	N	0.548535	0.999931	0.20771	N	1.04	0.26193	L	1.23	0.41392	T	0.62	0.03521	N	0.058	0.05799	-1.0558	0.12829	T	0.028	0.12014	T	10	0.0056744814	0.00126	T	.	.	.	0.079	0.23065	.	.	0.216624796971	0.21254	0.0970219366795166	0.09633	0.27085037371	0.29608	0.277084738016	0.07089	T	0.008562	0.07851	T	-0.672686	0.00053	T	-0.728655	0.04389	T	0.0169025834154632	0.00442	T	0.864914	0.59457	D	0.03438851	0.03849	0.051251248	0.08211	0.03438851	0.03849	0.051251248	0.08210	-2.854	0.11434	T	.	.	0.053	0.04041	B	.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.	1.993137	0.25321	16.72	0.96975170381876774	0.31835	0.78073	0.38466	D	AEFDBI	0.145010	0.26812	N	-0.594315532602198	0.19115	0.9979814	-0.429625710218201	0.24133	1.319808	0.0712516298131447	0.15560	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.1	0.204	0.14476	1.726000	0.37706	5.378000	0.48447	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.353:0.2855:0.2202:0.1412	0.973	0.01330	917	0.20147	.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.003021	0.000000	0.001359	0.000000	0.000000	0.000000	0.006098	0.007576	0.1667	2355.04	37	chr2	231798936	.	A	G	2355.04	.	AC=2;AF=0.167;AN=12;DP=256;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;QD=31.82;SOR=0.927	GT:AD:DP:GQ:PL	1/1:0,74:74:99:2375,222,0	5	1	0	0
chr2	232407357	232407357	A	T	exonic	ALPG	.	nonsynonymous SNV	ALPG:NM_031313:exon3:c.A256T:p.T86S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.306	0.0194058491518	.	.	0.0003	0	0.0028	0	0	0	0	0	0.000207	32	154602	rs760980285	6.431e-05	6.43e-05	6.943e-05	5.913e-05	0.0021	5.362e-05	4.976e-05	0.0018	0.0016	0	0.0021	0	0	0	0	0	0	0	1.316e-05	1.314e-05	2.572e-05	0	0.0001	2.19e-06	8.2e-07	2.267e-05	9.09e-06	0	0	0.0001	0	0	0	0	0	0	0	0.146	0.25055	T	0.25	0.23707	T	0.051	0.22415	B	0.098	0.30479	B	0.000400	0.44960	D	0.222920	0.71484	0.29979	N	1.48	0.37141	L	-3.8	0.95696	D	-2.07	0.47344	N	0.199	0.21969	0.362	0.88530	D	0.740	0.91130	D	10	0.015602946	0.00327	T	0.019406	0.41765	T	0.306	0.62729	0.429	0.47680	0.732683959159	0.73030	0.5500666201334231	0.54932	0.167204392652	0.18855	0.366324901581	0.20303	T	0.591798	0.86788	D	-0.264471	0.12381	T	-0.158219	0.58511	T	0.0731720276074563	0.09089	T	0.740726	0.35986	T	0.081600964	0.18757	0.08633852	0.19995	0.081600964	0.18757	0.08633852	0.19994	-4.068	0.24817	T	.	.	0.099	0.16626	B	.	.	1.502229	0.19308	14.20	0.89081685667655475	0.18495	0.34776	0.25147	N	AEFDGBCI	0.188858	0.31612	N	-0.692005393918636	0.16249	0.8261458	-0.723561652352175	0.16375	0.8659189	0.999747862794924	0.42466	0.660377	0.49826	0	0.59043	0.45803	0	0.696353	0.63694	0	0.613276	0.41899	0	.	.	1.98	1.98	0.25351	2.498000	0.45023	5.615000	0.49067	0.513000	0.23382	0.959000	0.33545	1.000000	0.68203	0.010000	0.09038	1.0:0.0:0.0:0.0	10.336	0.43034	840	0.37365	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1435.83	140	chr2	232407357	.	A	T	1435.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.823;DP=613;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=8.81;ReadPosRankSum=-1.575;SOR=0.723	GT:AD:DP:GQ:PL	0/1:98,65:163:99:1446,0,2533	5	0	1	0
chr2	232844373	232844373	C	G	exonic	GIGYF2	.	nonsynonymous SNV	GIGYF2:NM_001103148:exon24:c.C3086G:p.S1029C,GIGYF2:NM_001103146:exon25:c.C3104G:p.S1035C,GIGYF2:NM_001103147:exon27:c.C3167G:p.S1056C,GIGYF2:NM_015575:exon27:c.C3104G:p.S1035C	.	.	.	.	.	.	.	.	.	.	.	2843847	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.251	0.0431093114872	0.0012	.	0.0008	0.0003	0.0003	0	0.0002	0.0012	0	0.0002	0.0009056	140	154602	rs144086186	0.0018	0.0018	0.0018	0.0017	0.0021	0.0017	0.0017	0.0021	0.0020	0.0002	0.0003	3.826e-05	0	9.362e-05	0.0002	0.0021	0.0024	0.0004	0.0012	0.0012	0.0013	0.0011	0.0023	0.0010	0.0010	0.0020	0.0019	0.0002	0	0.0005	0	0	0.0004	0	0.0023	0.0019	0.0004	0.041	0.63226	D	0.015	0.65728	D	0.997	0.70673	D	0.841	0.60228	P	0.004318	0.33881	N	0.354898	0.999996	0.81001	D	.	.	.	-0.83	0.74159	T	-1.09	0.46842	N	0.685	0.69125	-0.1312	0.79373	T	0.456	0.78802	T	10	0.038464576	0.02267	T	0.043109	0.60812	D	0.251	0.56024	.	.	0.720597071289	0.71813	0.631911003973687	0.63125	0.295410810981	0.31946	0.589522242546	0.51427	T	0.106176	0.41729	T	-0.134348	0.30795	T	0.0365764	0.72705	D	0.0204190339231819	0.00742	T	0.815918	0.47811	T	0.07771122	0.17656	0.091011286	0.21373	0.06918007	0.15133	0.11172769	0.26951	-10.173	0.75000	D	.	.	0.111	0.24363	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	4.643364	0.73943	26.1	0.99035744729284292	0.50895	0.96832	0.71180	D	AEFBI	0.573018	0.57637	D	0.555275701806744	0.70405	5.496528	0.580415662388747	0.73538	5.986643	0.999999965286414	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.63	5.63	0.86108	3.875000	0.55821	7.703000	0.66393	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:1.0:0.0:0.0	19.691	0.95998	764	0.49969	.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1284.83	33	chr2	232844373	.	C	G	1284.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.023;DP=292;ExcessHet=0;FS=0.757;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.25;ReadPosRankSum=2.38;SOR=0.818	GT:AD:DP:GQ:PL	0/1:48,49:97:99:1295,0,1296	5	0	1	0
chr2	232847516	232847519	CACA	0	exonic	GIGYF2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	8612.91	33	chr2	232847516	.	CACA	*	8612.91	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-2.776;DP=508;ExcessHet=0.095;FS=0.621;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=20.85;ReadPosRankSum=0.27;SOR=0.837	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:48,39:87:99:.:.:1497,0,1895:.	4	0	2	0
chr2	237368796	237368796	A	C	exonic	COL6A3	.	nonsynonymous SNV	COL6A3:NM_057166:exon7:c.T2846G:p.V949G,COL6A3:NM_057167:exon9:c.T4049G:p.V1350G,COL6A3:NM_004369:exon10:c.T4667G:p.V1556G	Bethlem myopathy 1, Autosomal recessive, Autosomal dominant;Dystonia 27, Autosomal recessive;Ullrich congenital muscular dystrophy 1, Autosomal recessive, Autosomal dominant	0	1521	1	0	0	1	0.000328623	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.642	0.326293072267	7.7e-05	.	8.237e-06	0	0	0	0	1.498e-05	0	0	6.5e-06	1	154602	rs375207869	6.84e-07	6.84e-07	0	1.375e-06	8.993e-07	0	0	.	.	0	0	0	0	0	0	8.993e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	0.969	0.56768	D	0.755	0.56206	P	0.024992	0.26166	N	0.261981	1	0.81001	D	3.925	0.96283	H	-1.37	0.80214	T	-5.65	0.87911	D	0.332	0.51405	0.524	0.90875	D	0.710	0.90035	D	10	0.5297289	0.63114	D	0.326293	0.91622	D	0.642	0.86384	.	.	0.929830039807	0.92911	0.7963900224668918	0.79592	0.734343058358	0.62892	0.264051198959	0.05382	T	0.586435	0.86536	D	0.196446	0.73560	D	0.0444048	0.73216	D	0.658129353991266	0.38814	D	0.762724	0.38847	T	0.841444	0.86711	0.74156857	0.84724	0.841444	0.86713	0.74156857	0.84725	-6.817	0.52685	T	0.6254892606870966	0.69431	0.401	0.67077	A	.;.;.;.;.	.;.;.;.;.	3.176585	0.43098	21.7	0.94944570985029741	0.25843	0.98139	0.79933	D	AEFBI	0.838745	0.75623	D	0.343412705170158	0.58391	4.011201	0.160406906363571	0.47695	2.995973	0.999979472256532	0.50053	0.638212	0.43195	0	0.59043	0.45803	0	0.653264	0.51672	0	0.613276	0.41899	0	.	.	5.36	4.2	0.48814	6.305000	0.72774	9.306000	0.79917	0.756000	0.94297	0.864000	0.30684	0.991000	0.31484	0.293000	0.24333	0.9277:0.0:0.0723:0.0	11.200	0.47967	944	0.12746	.;von Willebrand factor, type A|von Willebrand factor, type A|von Willebrand factor, type A;.;von Willebrand factor, type A|von Willebrand factor, type A|von Willebrand factor, type A;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	2397.83	37	chr2	237368796	.	A	C	2397.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.923;DP=383;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.93;ReadPosRankSum=-1.532;SOR=0.723	GT:AD:DP:GQ:PL	0/1:105,96:201:99:2408,0,2852	5	0	1	0
chr2	240868891	240868891	C	A	exonic	AGXT	.	nonsynonymous SNV	AGXT:NM_000030:exon1:c.C26A:p.T9N	Hyperoxaluria, primary, type 1, Autosomal recessive	4	1474	42	2	0	46	0.0153641	.	.	YES	200420	Primary_hyperoxaluria,_type_I|not_provided|not_specified	MONDO:MONDO:0009823,MedGen:C0268164,OMIM:259900,Orphanet:416,Orphanet:93598|MedGen:C3661900|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.259	.	0.0067	0.00379393	0.0112	0.0018	0.0109	0	0.0156	0.0146	0.0197	0.0072	0.0082858	1281	154602	rs115014558	0.0091	0.0091	0.0090	0.0091	0.0146	0.0089	0.0089	0.0121	0.0111	0.0013	0.0062	0.0129	0	0.0133	0.0146	0.0096	0.0088	0.0067	0.0071	0.0071	0.0074	0.0068	0.0105	0.0067	0.0066	0.0098	0.0096	0.0019	0	0.0045	0.0176	0.0004	0.0119	0.0068	0.0105	0.0043	0.0044	0.045	0.40832	D	0.178	0.29639	T	0.001	0.07471	B	0.013	0.16460	B	0.290800	0.14772	N	0.690471	1	0.08975	N	0.55	0.14455	N	-2.5	0.89219	D	-1.03	0.27052	N	0.695	0.70000	-0.5564	0.66541	T	0.408	0.75699	T	10	0.007460147	0.00169	T	.	.	.	0.259	0.57090	.	.	0.462200489575	0.45844	0.7253533254968803	0.72479	0.0363000679413	0.03840	0.289268434048	0.08816	T	0.184053	0.53658	T	-0.459166	0.00995	T	-0.421949	0.30852	T	0.00124116546586736	0.00012	T	0.322368	0.06563	T	0.10993986	0.25990	0.09802004	0.23354	0.18965824	0.40516	0.10583506	0.25449	-5.319	0.40131	T	.	.	0.081	0.08176	B	.	.	0.442226	0.08122	4.854	0.83825151180814905	0.14941	0.18979	0.20479	N	AEFGBHCI	0.634145	0.61413	D	-1.3091462423902	0.03569	0.159694	-1.32216890523672	0.04145	0.194878	0.999999007721818	0.74766	0.497415	0.19182	0	0.59043	0.45803	0	0.578056	0.29568	0	0.613276	0.41899	0	.	.	4.42	1.4	0.21393	0.775000	0.26351	-0.315000	0.10009	-1.117000	0.01478	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.2787:0.5869:0.1344:0.0	9.964	0.40883	982	0.03397	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.012085	0.000000	0.008174	0.014620	0.000000	0.008621	0.018293	0.018939	0.08333	483.83	33	chr2	240868891	.	C	A	483.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.16;DP=249;ExcessHet=0;FS=1.158;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=8.06;ReadPosRankSum=-0.344;SOR=1.022	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:40,20:60:99:0|1:240868891_C_A:494,0,1524:240868891	5	0	1	0
chr3	3845708	3845708	C	T	exonic	LRRN1	.	nonsynonymous SNV	LRRN1:NM_020873:exon2:c.C1067T:p.T356I,LRRN1:NM_001324188:exon3:c.C1067T:p.T356I,LRRN1:NM_001324189:exon3:c.C1067T:p.T356I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.136	0.0169594253799	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1441426868	2.052e-06	2.052e-06	0	4.125e-06	2.987e-05	5.5e-07	1.5e-07	.	.	2.987e-05	0	0	0	0	0	8.993e-07	0	1.159e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.272	0.15930	T	0.372	0.16376	T	0.013	0.16609	B	0.008	0.13708	B	0.000000	0.84330	D	0.046483	1	0.81001	D	1.39	0.34934	L	0.41	0.57100	T	-1.2	0.30555	N	0.704	0.70790	-0.9346	0.43455	T	0.171	0.51261	T	10	0.4003954	0.55526	T	0.016959	0.38457	T	0.136	0.36778	0.391	0.41443	0.110392049598	0.10638	0.730475172573784	0.72992	0.205702266564	0.22994	0.772989571095	0.77872	T	0.037047	0.24331	T	-0.0050316	0.50959	T	-0.245004	0.50309	T	0.519604491929757	0.33351	D	0.950805	0.81197	D	0.22968371	0.45710	0.20609692	0.44808	0.22968371	0.45710	0.20609692	0.44807	-5.753	0.44163	T	.	.	0.366	0.57591	A	.	.	3.217065	0.43812	21.8	0.99599261164921282	0.74101	0.98796	0.86965	D	AEFDBI	0.940393	0.94228	D	0.188297592435973	0.50637	3.251825	0.365149748615435	0.59426	4.120226	0.999999999997852	0.74766	0.631515	0.41029	0	0.573888	0.26702	0	0.697927	0.64325	0	0.564101	0.26826	0	.	.	5.54	5.54	0.82907	7.839000	0.85040	7.708000	0.66649	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:1.0:0.0:0.0	19.473	0.94963	941	0.13089	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1911.83	83	chr3	3845708	.	C	T	1911.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.785;DP=521;ExcessHet=0;FS=0.632;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.95;ReadPosRankSum=1.14;SOR=0.608	GT:AD:DP:GQ:PL	0/1:67,70:137:99:1922,0,1827	5	0	1	0
chr3	14819877	14819877	C	T	exonic	FGD5	.	nonsynonymous SNV	FGD5:NM_001320276:exon1:c.C806T:p.T269I,FGD5:NM_152536:exon1:c.C806T:p.T269I	.	410	1111	1	0	0	1	0.000449843	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.171	0.00774495904826	.	.	9.008e-06	0.0001	0	0	0	0	0	0	6.5e-06	1	154602	rs750921795	1.369e-06	1.368e-06	1.362e-06	1.376e-06	2.987e-05	2.3e-07	9e-08	.	.	2.987e-05	0	0	0	0	0	0	0	1.16e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.176	0.22312	T	0.186	0.28860	T	0.0	0.02946	B	0.0	0.01387	B	0.115861	0.02681	N	1.862450	1	0.08975	N	0.6	0.15550	N	-0.91	0.75001	T	-1.01	0.27669	N	0.038	0.05287	-0.9383	0.42885	T	0.137	0.45432	T	10	0.07198587	0.10686	T	0.007745	0.20536	T	0.171	0.43483	0.134	0.03833	0.287411543184	0.28351	0.026819447664188808	0.02631	0.166320250168	0.18766	0.21464625001	0.01024	T	0.013606	0.11736	T	-0.395818	0.02466	T	-0.624194	0.10859	T	0.383595377206802	0.28321	T	0.357364	0.10763	T	0.023901274	0.01171	0.024554877	0.00478	0.023901274	0.01170	0.024554877	0.00478	-5.552	0.42351	T	.	.	0.145	0.31906	B	.;.;.	.;.;.	-1.370391	0.00382	0.007	0.33317343898379814	0.01978	0.00409	0.02034	N	AEFDBI	0.066212	0.12955	N	-1.95670766578747	0.00262	0.01122089	-2.0709647240247	0.00215	0.009494225	0.999999908732951	0.74766	0.706298	0.61202	0	0.563428	0.19063	0	0.709663	0.75317	0	0.711	0.71501	0	.	.	5.25	-10.5	0.00234	-2.747000	0.00865	-1.384000	0.05566	-1.780000	0.00653	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.245:0.1829:0.2608:0.3113	0.393	0.00385	923	0.18507	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	1092.83	37	chr3	14819877	.	C	T	1092.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.46;DP=284;ExcessHet=0;FS=4.507;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.63;ReadPosRankSum=0.418;SOR=1.236	GT:AD:DP:GQ:PL	0/1:52,42:94:99:1103,0,1322	5	0	1	0
chr3	38587413	38587413	C	T	exonic	SCN5A	.	nonsynonymous SNV	SCN5A:NM_000335:exon15:c.G2423A:p.R808H,SCN5A:NM_001099404:exon15:c.G2423A:p.R808H,SCN5A:NM_001099405:exon15:c.G2423A:p.R808H,SCN5A:NM_001160160:exon15:c.G2423A:p.R808H,SCN5A:NM_001160161:exon15:c.G2423A:p.R808H,SCN5A:NM_001354701:exon15:c.G2423A:p.R808H,SCN5A:NM_198056:exon15:c.G2423A:p.R808H	Atrial fibrillation, familial, 10, Autosomal dominant;Brugada syndrome 1, Autosomal dominant;Cardiomyopathy, dilated, 1E, Autosomal dominant;Heart block, nonprogressive, Autosomal dominant;Heart block, progressive, type IA, Autosomal dominant;Long QT syndrome-3, Autosomal dominant;Sick sinus syndrome 1, Autosomal recessive;Ventricular fibrillation, familial, 1	.	.	.	.	.	.	.	.	.	YES	189214	Cardiac_arrhythmia|not_provided|Long_QT_syndrome|Brugada_syndrome_1	EFO:EFO_0004269,Human_Phenotype_Ontology:HP:0001656,Human_Phenotype_Ontology:HP:0001661,Human_Phenotype_Ontology:HP:0001665,Human_Phenotype_Ontology:HP:0001666,Human_Phenotype_Ontology:HP:0001687,Human_Phenotype_Ontology:HP:0001721,Human_Phenotype_Ontology:HP:0004351,Human_Phenotype_Ontology:HP:0005158,Human_Phenotype_Ontology:HP:0011675,MONDO:MONDO:0007263,MedGen:C0003811|MedGen:C3661900|MONDO:MONDO:0002442,MeSH:D008133,MedGen:C0023976|MONDO:MONDO:0011001,MedGen:C4551804,OMIM:601144,Orphanet:130	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.961	0.912283223832	.	.	1.777e-05	0	0	0	0.0002	1.573e-05	0	0	1.94e-05	3	154602	rs199473160	3.424e-06	3.42e-06	5.449e-06	1.377e-06	2.52e-05	1e-06	7.3e-07	7.2e-07	2e-07	0	0	0	2.52e-05	1.874e-05	0	2.7e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.008	0.70582	D	0.99	0.77913	D	0.621	0.63489	P	0.000000	0.84330	D	0.000000	0.999999	0.58761	D	4.31	0.98302	H	-5.03	0.98578	D	-4.95	0.81910	D	0.993	0.99863	1.012	0.97389	D	0.984	0.99498	D	10	0.9790485	0.97809	D	0.912283	0.99347	D	0.961	0.99405	0.848	0.95084	0.99336309932	0.99328	0.9669681357266546	0.96684	1.12857777397	0.78526	0.835788011551	0.87451	D	0.984752	0.99899	D	0.573955	0.96679	D	0.58667	0.96624	D	0.99966561794281	0.98390	D	0.963604	0.87317	D	0.9025011	0.91608	0.81818014	0.89422	0.9025011	0.91609	0.81818014	0.89423	-8.93	0.67717	D	0.7652141902624314	0.84669	0.670	0.76938	P	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	5.416506	0.90641	31	0.99948957596769383	0.99931	0.99709	0.98858	D	AEFDBI	0.974083	0.99536	D	0.92768053365571	0.93048	11.78913	0.807495206150772	0.90312	10.34937	0.99999999999829	0.74766	0.626454	0.40138	0	0.59043	0.45803	0	0.80507	0.99327	0	0.655142	0.61905	0	.	.	4.29	4.29	0.50359	7.905000	0.86479	7.533000	0.59948	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:1.0:0.0:0.0	17.258	0.86949	563	0.71062	Ion transport domain;.;Ion transport domain;Ion transport domain;Ion transport domain;Ion transport domain;Ion transport domain;Ion transport domain;Ion transport domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1052.83	33	chr3	38587413	.	C	T	1052.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.121;DP=262;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.24;ReadPosRankSum=-1.599;SOR=0.789	GT:AD:DP:GQ:PL	0/1:43,43:86:99:1063,0,1045	5	0	1	0
chr3	45595726	45595726	G	A	exonic	LIMD1	.	nonsynonymous SNV	LIMD1:NM_014240:exon1:c.G847A:p.G283R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.105	0.0436449696286	.	.	8.263e-06	0	0	0	0	1.505e-05	0	0	6.5e-06	1	154602	rs749761214	1.3e-05	1.3e-05	1.77e-05	8.251e-06	1.529e-05	8.31e-06	6.7e-06	9.31e-06	7.61e-06	0	0	0	0	1.876e-05	0	1.529e-05	1.656e-05	0	1.314e-05	1.313e-05	1.284e-05	1.345e-05	2.939e-05	2.18e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.939e-05	0	0	0.004	0.65419	D	0.306	0.23776	T	0.89	0.48942	P	0.207	0.37187	B	0.486624	0.05012	N	1.306860	0.99912	0.21598	N	1.845	0.48678	L	0.35	0.58029	T	-2.56	0.55339	D	0.346	0.48596	-0.8646	0.50930	T	0.128	0.43544	T	10	0.2468836	0.41960	T	0.043645	0.61090	D	0.105	0.29889	0.297	0.26202	0.636843794314	0.63386	0.20095916356719698	0.20012	0.609113261058	0.55654	0.436773687601	0.30137	T	0.23239	0.59894	T	-0.0901516	0.38052	T	-0.351787	0.39000	T	0.830394268035889	0.48561	D	0.622538	0.23960	T	0.15543929	0.35131	0.19518156	0.43180	0.15543929	0.35131	0.19518156	0.43179	-3.228	0.12826	T	.	.	0.243	0.47762	B	.;.	.;.	4.354279	0.66909	25.0	0.99896007940269582	0.96895	0.69734	0.34306	D	AEFDGBCI	0.274572	0.38973	N	0.112380482910732	0.47040	2.935346	0.162499085963009	0.47808	3.005531	0.999999998997676	0.74766	0.733237	0.96898	0	0.600757	0.49542	0	0.851219	0.99655	0	0.638787	0.57140	0	.	.	4.92	4.92	0.64147	3.484000	0.52965	8.549000	0.77521	0.676000	0.76740	0.588000	0.27650	1.000000	0.68203	0.063000	0.16184	0.0:0.0:1.0:0.0	16.340	0.82912	607	0.67291	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1365.83	37	chr3	45595726	.	G	A	1365.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.09;DP=330;ExcessHet=0;FS=2.576;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.52;ReadPosRankSum=-0.554;SOR=0.769	GT:AD:DP:GQ:PL	0/1:51,50:101:99:1376,0,1265	5	0	1	0
chr3	46676321	46676321	C	T	exonic	ALS2CL	.	nonsynonymous SNV	ALS2CL:NM_001190707:exon19:c.G2110A:p.G704R,ALS2CL:NM_147129:exon19:c.G2110A:p.G704R	.	422	1099	1	0	0	1	0.000454752	.	.	.	2337404	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.347	0.0467636966519	.	0.000399361	0.0002	0	8.642e-05	0	0	3.001e-05	0	0.0013	0.0001746	27	154602	rs565114772	0.0001	0.0001	6.535e-05	0.0002	0.0013	9.941e-05	9.35e-05	0.0011	0.0010	0	2.236e-05	0	0	0	0.0007	3.417e-05	0.0002	0.0013	9.859e-05	0.0001	8.998e-05	0.0001	0.0019	6.008e-05	4.881e-05	0.0010	0.0007	4.82e-05	0	6.539e-05	0	0.0002	0	0	2.942e-05	0	0.0019	0.098	0.30800	T	0.0	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.000006	0.62929	D	0.000000	0.999983	0.58761	D	2.7	0.79018	M	1.57	0.29342	T	-4.7	0.79829	D	0.885	0.88577	-0.8167	0.54140	T	0.182	0.52965	T	10	0.2534304	0.42710	T	0.046764	0.62611	D	0.347	0.66863	0.489	0.57415	0.317667799068	0.31381	0.5775521865056367	0.57684	0.607010650221	0.55521	0.64257389307	0.58930	T	0.319884	0.69112	T	-0.0770493	0.40192	T	0.0760144	0.75311	D	0.440874129533768	0.30461	T	0.939106	0.77081	D	0.38150588	0.59425	0.34192067	0.59925	0.38150588	0.59425	0.34192067	0.59924	-9.256	0.69330	D	.	.	0.313	0.54761	B	.;.	.;.	4.770825	0.77233	26.7	0.99932549043374774	0.99439	0.98397	0.82359	D	AEFDBI	0.783796	0.71467	D	0.629178828234893	0.75027	6.234048	0.555565600921466	0.71786	5.708141	0.999999999995891	0.74766	0.706298	0.61202	0	0.59043	0.45803	0	0.709663	0.75317	0	0.655142	0.61905	0	.	.	4.85	4.85	0.62375	6.638000	0.74166	7.605000	0.61698	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.312000	0.24784	0.0:1.0:0.0:0.0	15.499	0.75417	317	0.87119	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	908.83	41	chr3	46676321	.	C	T	908.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.52;DP=268;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.65;ReadPosRankSum=0.3;SOR=0.617	GT:AD:DP:GQ:PL	0/1:41,37:78:99:919,0,924	5	0	1	0
chr3	46858411	46858411	C	T	exonic	MYL3	.	nonsynonymous SNV	MYL3:NM_000258:exon5:c.G532A:p.D178N	Cardiomyopathy, hypertrophic, 8	0	1520	2	0	0	2	0.000657462	.	.	.	52298	Cardiovascular_phenotype|Hypertrophic_cardiomyopathy_8|Hypertrophic_cardiomyopathy|Cardiomyopathy|not_specified|not_provided	MedGen:CN230736|MONDO:MONDO:0012111,MedGen:C1837471,OMIM:608751|Human_Phenotype_Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194,Orphanet:217569|Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848|MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.709	0.2201771311	7.7e-05	0.000399361	0.0003	0	8.643e-05	0	0	8.997e-05	0	0.0015	0.0002264	35	154602	rs145520567	0.0001	0.0001	5.99e-05	0.0002	0.0016	0.0001	0.0001	0.0013	0.0013	0	0	0	0	0	0.0005	2.518e-05	0.0002	0.0016	8.537e-05	8.531e-05	7.711e-05	9.4e-05	0.0021	4.954e-05	3.96e-05	0.0011	0.0009	2.407e-05	0	0	0	0	0	0	2.941e-05	0	0.0021	0.011	0.55530	D	0.051	0.47828	T	0.983	0.60381	D	0.483	0.47159	P	0.000001	0.62929	D	0.000000	1	0.81001	D	2.57	0.75187	M	-1.52	0.81478	D	-4.26	0.76174	D	0.853	0.84922	0.261	0.86929	D	0.533	0.82714	D	10	0.3612776	0.52752	T	0.220177	0.87744	D	0.709	0.89605	.	.	0.869866588769	0.86860	0.6067735504588467	0.60608	0.924009153585	0.71568	0.776091217995	0.78339	T	0.74897	0.93106	D	-0.252559	0.13787	T	-0.170938	0.57358	T	0.431182354688644	0.30104	T	0.951105	0.81346	D	0.6151212	0.73502	0.4172226	0.65783	0.6151212	0.73503	0.4172226	0.65783	-11.386	0.81732	D	0.5976635823013203	0.66457	0.763	0.75617	P	.;.	.;.	4.909294	0.80764	27.4	0.99914874074217275	0.98309	0.98825	0.87349	D	AEFBI	0.975985	0.99649	D	0.612990837167797	0.73993	6.058093	0.560821823494333	0.72152	5.765209	0.999999999750409	0.74766	0.516011	0.20929	0	0.573888	0.26702	0	0.577349	0.28860	0	0.530356	0.10902	0	.	.	3.77	3.77	0.42499	7.722000	0.83741	7.549000	0.60236	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.0:1.0:0.0:0.0	13.478	0.60772	140	0.94439	EF-hand domain|EF-hand domain;EF-hand domain|EF-hand domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1260.83	38	chr3	46858411	.	C	T	1260.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.843;DP=292;ExcessHet=0;FS=2.602;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.01;ReadPosRankSum=-0.536;SOR=0.968	GT:AD:DP:GQ:PL	0/1:51,54:105:99:1271,0,1350	5	0	1	0
chr3	47005029	47005029	G	A	exonic	NBEAL2	.	nonsynonymous SNV	NBEAL2:NM_001365116:exon38:c.G6250A:p.V2084I,NBEAL2:NM_015175:exon39:c.G6352A:p.V2118I	Gray platelet syndrome, Autosomal recessive	0	1521	1	0	0	1	0.000328623	.	.	.	889207	Inborn_genetic_diseases|NBEAL2-related_disorder|Gray_platelet_syndrome|not_specified	MeSH:D030342,MedGen:C0950123|.|MONDO:MONDO:0007686,MedGen:C0272302,OMIM:139090,Orphanet:721|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.207	0.0201190071842	0.0008	0.000199681	0.0011	0	0.0002	0	0.0015	0.0017	0.0014	7.107e-05	0.0009314	144	154602	rs146270553	0.0010	0.0010	0.0010	0.0009	0.0012	0.0009	0.0009	0.0011	0.0011	0.0002	0.0003	3.831e-05	2.521e-05	0.0012	0.0010	0.0012	0.0005	8.135e-05	0.0005	0.0005	0.0006	0.0005	0.0009	0.0004	0.0004	0.0007	0.0007	0.0002	0	0.0004	0	0	0.0005	0.0034	0.0009	0	0	0.175	0.22400	T	.	.	.	0.781	0.44300	P	0.459	0.46380	P	0.000004	0.62929	D	0.060664	0.99759	0.46701	D	1.02	0.25474	L	-1.32	0.79761	T	-0.77	0.21429	N	0.387	0.42834	-0.4884	0.69065	T	0.339	0.70559	T	10	0.05044812	0.04778	T	0.020119	0.42647	T	0.283	0.60100	.	.	0.554306714541	0.55088	0.574916575761773	0.57420	0.850350720984	0.68505	0.527846336365	0.42731	T	0.128739	0.45659	T	-0.312182	0.07558	T	-0.245832	0.50227	T	0.0174905266044585	0.00485	T	0.866813	0.56740	D	0.16182034	0.36217	0.13756381	0.32877	0.11685371	0.27555	0.13773769	0.32913	-5.596	0.42755	T	0.2169247539664994	0.29188	0.087	0.10979	B	.	.	4.501679	0.70410	25.5	0.99816543332672536	0.89973	0.93218	0.57633	D	AEFDBCI	0.497687	0.53210	N	0.218762956111477	0.52108	3.387207	0.327621687687157	0.57169	3.881747	0.999999999800572	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.86	4.86	0.62624	5.846000	0.69165	7.602000	0.61596	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:0.0:1.0:0.0	16.729	0.85289	25	0.98345	BEACH domain|BEACH domain|BEACH domain|BEACH domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1461.83	34	chr3	47005029	.	G	A	1461.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.476;DP=284;ExcessHet=0;FS=1.584;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.41;ReadPosRankSum=0.928;SOR=0.523	GT:AD:DP:GQ:PL	0/1:50,59:109:99:1472,0,1234	5	0	1	0
chr3	48581328	48581328	G	A	exonic	COL7A1	.	nonsynonymous SNV	COL7A1:NM_000094:exon52:c.C4831T:p.P1611S	EBD inversa, Autosomal recessive;EBD, Bart type, Autosomal dominant;EBD, localisata variant (3);Epidermolysis bullosa dystrophica, AD, Autosomal dominant;Epidermolysis bullosa dystrophica, AR, Autosomal recessive;Epidermolysis bullosa pruriginosa, Autosomal recessive, Autosomal dominant;Epidermolysis bullosa, pretibial, Autosomal recessive, Autosomal dominant;Toenail dystrophy, isolated, Autosomal dominant;Transient bullous of the newborn, Autosomal recessive, Autosomal dominant	.	.	.	.	.	.	.	.	.	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	0.302	0.145966549664	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.842e-07	6.84e-07	1.362e-06	0	.	0	0	.	.	0	0	0	0	0	0	0	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.401	0.10447	T	0.259	0.23097	T	0.951	0.53992	P	0.812	0.58704	P	0.089555	0.20421	N	0.364518	0.863996	0.28312	N	1.415	0.35607	L	-4.13	0.96745	D	-0.48	0.15379	N	0.385	0.42639	0.367	0.88604	D	0.839	0.94603	D	10	0.46036363	0.59247	T	0.145967	0.82812	D	0.302	0.62290	0.346	0.34112	0.912956154227	0.91208	0.8222853786344548	0.82185	0.252204158462	0.27787	0.311387419701	0.12117	T	0.278755	0.65142	T	0.0569874	0.59235	T	-0.155918	0.58717	T	0.394808441400528	0.28746	T	0.916008	0.70013	D	0.047421176	0.08101	0.06583355	0.13400	0.047421176	0.08101	0.06583355	0.13400	-4.425	0.29894	T	0.11297636452283985	0.09835	0.070	0.03301	B	.	.	3.539150	0.49694	22.8	0.99271734512534859	0.57593	0.84257	0.43339	D	AEFDBCI	0.273582	0.38896	N	-0.0924722583024896	0.37721	2.198757	-0.104723058192488	0.35200	2.03363	0.754736207631128	0.23415	0.615465	0.37627	0	0.588066	0.40923	0	0.658983	0.55881	0	0.613276	0.41899	0	.	.	5.41	0.978	0.18859	1.431000	0.34534	1.167000	0.24596	0.665000	0.62972	0.968000	0.34134	0.727000	0.26391	0.997000	0.79791	0.0849:0.4704:0.4447:0.0	10.420	0.43531	11	0.98996	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	2213.83	34	chr3	48581328	.	G	A	2213.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-3.518;DP=335;ExcessHet=0;FS=2.238;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=16.04;ReadPosRankSum=-0.694;SOR=0.925	GT:AD:DP:GQ:PL	0/1:57,81:138:99:2224,0,1552	5	0	1	0
chr3	48592791	48592791	G	A	exonic	COL7A1	.	nonsynonymous SNV	COL7A1:NM_000094:exon7:c.C830T:p.P277L	EBD inversa, Autosomal recessive;EBD, Bart type, Autosomal dominant;EBD, localisata variant (3);Epidermolysis bullosa dystrophica, AD, Autosomal dominant;Epidermolysis bullosa dystrophica, AR, Autosomal recessive;Epidermolysis bullosa pruriginosa, Autosomal recessive, Autosomal dominant;Epidermolysis bullosa, pretibial, Autosomal recessive, Autosomal dominant;Toenail dystrophy, isolated, Autosomal dominant;Transient bullous of the newborn, Autosomal recessive, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	1898440	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.243	0.0788558309332	7.7e-05	0.000199681	4.184e-05	0.0002	0	0.0002	0	1.526e-05	0	0	3.88e-05	6	154602	rs188978813	7.527e-06	7.524e-06	4.085e-06	1.1e-05	0.0002	4.04e-06	2.95e-06	9.75e-05	6.95e-05	0.0002	0	0	0	1.889e-05	0	2.698e-06	0	0	0.0001	0.0001	0.0001	0.0001	0.0004	8.16e-05	6.718e-05	0.0002	0.0002	0.0004	0	6.532e-05	0	0.0002	0	0	1.47e-05	0	0	0.004	0.65419	D	0.004	0.74150	D	0.064	0.23455	B	0.039	0.23607	B	0.377912	0.13431	N	0.607542	0.999992	0.08975	N	1.04	0.26193	L	-2.08	0.86010	D	-1.79	0.42191	N	0.337	0.37820	-0.4731	0.69616	T	0.419	0.76463	T	10	0.08758402	0.15000	T	0.078856	0.73102	D	0.243	0.54921	.	.	0.793483180297	0.79156	0.3533453271698957	0.35248	0.254748099088	0.28049	0.290389180183	0.08978	T	0.180727	0.53217	T	-0.295102	0.09129	T	-0.329606	0.41512	T	0.0610123223275934	0.07327	T	0.69823	0.30825	T	0.07500179	0.16870	0.09313241	0.21983	0.07500179	0.16870	0.09313241	0.21982	-3.713	0.19510	T	.	.	0.092	0.13644	B	.	.	2.783834	0.36570	20.3	0.82932753562831252	0.14452	0.38355	0.25969	N	AEFDGBHCI	0.347065	0.44167	N	-0.602219057191103	0.18877	0.9836134	-0.550953750292146	0.20781	1.121195	0.999999981561066	0.74766	0.646311	0.45356	0	0.59043	0.45803	0	0.645312	0.48771	0	0.586402	0.36253	0	.	.	4.31	4.31	0.50718	3.223000	0.50932	7.300000	0.58086	0.672000	0.70159	0.269000	0.25036	1.000000	0.68203	0.045000	0.14751	0.0:0.1479:0.8521:0.0	14.436	0.66857	10	0.99061	Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.08333	1424.83	35	chr3	48592791	.	G	A	1424.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.22;DP=318;ExcessHet=0;FS=0.646;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.25;ReadPosRankSum=0.215;SOR=0.598	GT:AD:DP:GQ:PL	0/1:83,56:139:99:1435,0,2105	5	0	1	0
chr3	49125080	49125080	C	T	exonic	LAMB2	.	nonsynonymous SNV	LAMB2:NM_002292:exon20:c.G2810A:p.R937Q	Nephrotic syndrome, type 5, with or without ocular abnormalities;Pierson syndrome, Autosomal recessive	.	.	.	.	.	.	.	.	.	YES	295412	LAMB2-related_infantile-onset_nephrotic_syndrome|Pierson_syndrome	MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199,Orphanet:306507|MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049,Orphanet:2670	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.062	0.0202250521129	.	.	0.0001	0	0.0009	0	0	3.028e-05	0	0.0002	9.7e-05	15	154602	rs201235061	4.447e-05	4.446e-05	3.812e-05	5.089e-05	0.0004	3.575e-05	3.258e-05	0.0002	0.0002	2.987e-05	0.0004	0	2.519e-05	0	0.0002	2.158e-05	3.312e-05	0.0002	2.628e-05	2.626e-05	3.853e-05	1.345e-05	0.0002	8.14e-06	5.14e-06	.	.	0	0	6.542e-05	0	0.0002	0	0	1.47e-05	0	0.0002	0.035	0.43708	D	0.128	0.34959	T	0.17	0.28703	B	0.072	0.28043	B	0.000001	0.62929	N	0.057793	1	0.81001	D	1.76	0.45711	L	1.35	0.34648	T	-2.24	0.50175	N	0.445	0.48319	-1.0782	0.07701	T	0.083	0.32556	T	10	0.08733466	0.14933	T	0.020225	0.42781	T	0.062	0.17934	.	.	0.318252033908	0.31440	0.3217208901607694	0.32085	0.257780808339	0.28339	0.436760723591	0.30134	T	0.11697	0.43670	T	-0.320869	0.06827	T	-0.364533	0.37527	T	0.0985562551909436	0.12197	T	0.927007	0.73102	D	0.3991974	0.60677	0.26060244	0.51825	0.29137164	0.52120	0.25119102	0.50724	-5.556	0.42388	T	.	.	0.101	0.17530	B	.;.	.;.	3.541846	0.49744	22.8	0.99932193157553584	0.99439	0.98640	0.85021	D	AEFDBI	0.876664	0.80080	D	-0.0256491778689821	0.40698	2.421272	0.142671249408913	0.46755	2.916371	0.999999987948204	0.74766	0.706548	0.73137	0	0.588066	0.40923	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.98	5.12	0.69459	3.958000	0.56444	1.432000	0.26455	0.549000	0.26987	0.999000	0.42656	0.473000	0.25062	0.974000	0.55675	0.0:0.9329:0.0:0.0671	15.258	0.73301	0	0.99858	Laminin EGF domain|Laminin EGF domain|Laminin EGF domain|EGF-like domain;Laminin EGF domain|Laminin EGF domain|Laminin EGF domain|EGF-like domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1294.83	37	chr3	49125080	.	C	T	1294.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.35;DP=311;ExcessHet=0;FS=3.596;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.99;ReadPosRankSum=-0.806;SOR=1.09	GT:AD:DP:GQ:PL	0/1:61,47:108:99:1305,0,1764	5	0	1	0
chr3	51993945	51993945	C	T	exonic	RPL29	.	nonsynonymous SNV	RPL29:NM_000992:exon4:c.G284A:p.R95Q	.	.	.	.	.	.	.	.	.	.	.	3906350	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.156	0.00886467795599	.	.	5.262e-05	0	0.0005	0	0	0	0	0	6.5e-06	1	154602	rs180851912	1.316e-05	1.368e-05	9.65e-06	1.669e-05	0.0003	8.41e-06	6.78e-06	0.0002	0.0001	0	0.0003	0	0	0	0	4.497e-06	0	2.321e-05	6.569e-06	6.566e-06	1.284e-05	0	6.544e-05	0	0	.	.	0	0	6.544e-05	0	0	0	0	0	0	0	0.267	0.16198	T	0.417	0.14241	T	0.022	0.18677	B	0.004	0.10090	B	0.133689	0.18542	N	0.305787	1	0.08975	N	0.885	0.21608	L	1.02	0.40749	T	-1.01	0.26639	N	0.559	0.59732	-1.0826	0.06852	T	0.075	0.30272	T	10	0.11516181	0.21689	T	0.008865	0.23366	T	0.156	0.40720	0.341	0.33302	0.975556286999	0.97529	0.0817274815287049	0.08107	1.2475492963	0.81724	0.425787031651	0.28632	T	0.309574	0.68159	T	-0.219195	0.18103	T	-0.242116	0.50591	T	0.0477381549998835	0.05097	T	0.70223	0.31206	T	0.09554531	0.22487	0.06965871	0.14704	0.09554531	0.22487	0.06965871	0.14704	-9.368	0.70035	D	.	.	0.221	0.45186	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	3.293756	0.45186	22.1	0.97994705266085347	0.37431	0.28303	0.23517	N	AEFBCI	0.446985	0.50282	N	-0.492736959629844	0.22318	1.190891	-0.446132979984836	0.23658	1.291356	0.999958964268817	0.48110	0.722319	0.85440	0	0.685571	0.66316	0	0.702456	0.68683	0	0.735409	0.98432	0	.	.	4.59	3.64	0.40864	1.941000	0.39861	4.056000	0.41548	0.598000	0.34611	0.786000	0.29545	0.999000	0.35428	0.199000	0.21867	0.2127:0.7873:0.0:0.0	9.382	0.37483	175	0.93230	.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	537.83	39	chr3	51993945	.	C	T	537.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.152;DP=238;ExcessHet=0;FS=1.133;MLEAC=1;MLEAF=0.083;MQ=51.53;MQRankSum=-1.224;QD=11.2;ReadPosRankSum=0.186;SOR=0.46	GT:AD:DP:GQ:PL	0/1:26,22:48:99:548,0,643	5	0	1	0
chr3	52149876	52149876	G	A	exonic	POC1A	.	nonsynonymous SNV	POC1A:NM_001161580:exon3:c.C215T:p.S72L,POC1A:NM_001161581:exon3:c.C101T:p.S34L,POC1A:NM_015426:exon3:c.C215T:p.S72L	Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	734183	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.611	0.153096010206	.	.	0.0002	0	0	0.0029	0	0	0	0	0.0001617	25	154602	rs746676896	7.252e-05	7.251e-05	7.488e-05	7.014e-05	0.0019	6.115e-05	5.7e-05	0.0015	0.0014	0	0	0	0.0019	0	0	1.169e-05	0.0003	1.159e-05	0.0001	0.0001	0.0001	0.0001	0.0025	6.505e-05	5.317e-05	0.0015	0.0012	0	0	6.533e-05	0	0.0025	0	0	2.939e-05	0	0	0.103	0.33585	T	0.296	0.22494	T	1.0	0.90584	D	0.991	0.79672	D	0.000000	0.84330	D	0.000000	1	0.81001	D	1.425	0.35738	L	-1.57	0.81900	D	-4.68	0.83092	D	0.805	0.82358	0.274	0.87134	D	0.661	0.88242	D	10	0.08442715	0.14149	T	0.153096	0.83441	D	0.611	0.84773	0.516	0.61611	0.909470274544	0.90856	0.26553720406081366	0.26466	0.990172672015	0.74033	0.586426138878	0.50990	T	0.081475	0.36606	T	-0.0755526	0.40434	T	0.11869	0.78149	D	0.164146562089824	0.18172	T	0.864914	0.56300	D	0.46570715	0.65026	0.4065069	0.65022	0.45454106	0.64330	0.43163687	0.66775	-9.908	0.75448	D	0.4378701640559314	0.52390	0.188	0.40538	B	.;.;.	.;.;.	5.657480	0.92851	33	0.99905480669315827	0.97651	0.97997	0.78742	D	AEFBI	0.600725	0.59324	D	0.584925202344489	0.72234	5.77363	0.584593334878432	0.73834	6.035919	0.999999999968474	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.21	5.21	0.72005	6.724000	0.74556	11.784000	0.96188	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.985000	0.61073	0.0:0.0:1.0:0.0	18.367	0.90337	217	0.91564	WD40-repeat-containing domain;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.08333	1154.83	39	chr3	52149876	.	G	A	1154.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.44;DP=277;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.55;ReadPosRankSum=0.111;SOR=0.635	GT:AD:DP:GQ:PL	0/1:54,46:100:99:1165,0,1267	5	0	1	0
chr3	52488109	52488109	G	A	exonic	NISCH	.	nonsynonymous SNV	NISCH:NM_007184:exon16:c.G2617A:p.G873R	.	.	.	.	.	.	.	.	.	.	.	3556182	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.105	0.0059423537355	.	.	1.713e-05	0	0	0	0	1.57e-05	0	6.112e-05	1.29e-05	2	154602	rs770301540	2.807e-05	2.805e-05	2.861e-05	2.752e-05	3.478e-05	2.088e-05	1.88e-05	2.37e-05	2.103e-05	0	2.237e-05	0	2.519e-05	0	0	3.238e-05	0	3.478e-05	1.314e-05	1.313e-05	2.57e-05	0	2.94e-05	2.18e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.94e-05	0	0	0.002	0.72154	D	0.002	0.79402	D	0.995	0.67487	D	0.662	0.52860	P	0.002568	0.36316	N	0.267717	0.995009	0.42504	D	0.805	0.20218	L	3.09	0.08371	T	-1.99	0.45949	N	0.402	0.44666	-1.0846	0.06480	T	0.021	0.08917	T	10	0.2373397	0.40832	T	0.005942	0.15490	T	0.105	0.29889	0.35	0.34760	0.23524818089	0.23142	0.47909427520745856	0.47829	0.550900486598	0.51946	0.761237084866	0.76113	T	0.089572	0.38400	T	-0.146774	0.28819	T	-0.267079	0.48116	T	0.201812628388945	0.20515	T	0.851815	0.53646	D	0.093423	0.21942	0.12641914	0.30446	0.093423	0.21942	0.12641914	0.30445	-3.892	0.22182	T	.	.	0.504	0.65145	A	.;.	.;.	4.526931	0.71028	25.6	0.99875980712678125	0.95328	0.51496	0.28909	D	AEFBCI	0.099930	0.20106	N	0.241238919638776	0.53208	3.490698	0.249570930169503	0.52625	3.436114	0.317108952508057	0.19346	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	4.8	3.86	0.43689	2.134000	0.41725	8.175000	0.76766	0.672000	0.70159	0.974000	0.34632	1.000000	0.68203	0.271000	0.23793	0.122:0.0:0.7028:0.1752	6.822	0.23048	75	0.96833	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1608.83	46	chr3	52488109	.	G	A	1608.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.11;DP=341;ExcessHet=0;FS=3.267;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.38;ReadPosRankSum=0.441;SOR=0.43	GT:AD:DP:GQ:PL	0/1:70,60:130:99:1619,0,1802	5	0	1	0
chr3	54880835	54880835	C	G	exonic	CACNA2D3	.	nonsynonymous SNV	CACNA2D3:NM_018398:exon21:c.C1884G:p.F628L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.031	0.011478289355	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.727	0.03846	T	0.548	0.09489	T	0.049	0.22227	B	0.01	0.14941	B	0.000000	0.84330	D	0.052854	0.994353	0.43297	D	1.245	0.31408	L	1.61	0.28391	T	-0.38	0.17834	N	0.819	0.82057	-0.8813	0.49657	T	0.200	0.55612	T	10	0.6355337	0.68759	D	0.011478	0.29147	T	0.166	0.42578	0.43	0.47843	0.628157176678	0.62512	0.6551678712511836	0.65452	0.379407620271	0.39337	0.8851583004	0.94644	D	0.114189	0.43181	T	0.0117907	0.53270	T	-0.22084	0.52656	T	0.468753695487976	0.31485	T	0.821218	0.48050	T	0.16823985	0.37270	0.17865661	0.40549	0.16823985	0.37269	0.17865661	0.40548	-4.417	0.35678	T	.	.	0.644	0.71035	P	.;.;.;.	.;.;.;.	2.570744	0.33311	19.30	0.97702380821812995	0.35442	0.95036	0.63205	D	AEFBI	0.542936	0.55847	D	0.0950568647394044	0.46233	2.866767	0.161635245308988	0.47762	3.001579	0.999997395079233	0.74766	0.554377	0.28877	0	0.59043	0.45803	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	5.88	4.11	0.47350	1.467000	0.34930	2.202000	0.31296	0.589000	0.31548	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:0.8557:0.0:0.1443	10.716	0.45210	821	0.40814	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1681.83	33	chr3	54880835	.	C	G	1681.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.042;DP=305;ExcessHet=0;FS=0.642;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.55;ReadPosRankSum=0.562;SOR=0.691	GT:AD:DP:GQ:PL	0/1:62,72:134:99:1692,0,1494	5	0	1	0
chr3	56729274	56729274	A	G	exonic	ARHGEF3	.	nonsynonymous SNV	ARHGEF3:NM_001128616:exon10:c.T1595C:p.V532A,ARHGEF3:NM_019555:exon10:c.T1577C:p.V526A,ARHGEF3:NM_001289698:exon11:c.T1595C:p.V532A,ARHGEF3:NM_001377411:exon12:c.T1580C:p.V527A,ARHGEF3:NM_001377412:exon12:c.T1580C:p.V527A,ARHGEF3:NM_001128615:exon13:c.T1673C:p.V558A,ARHGEF3:NM_001377407:exon13:c.T1673C:p.V558A,ARHGEF3:NM_001377410:exon13:c.T1613C:p.V538A,ARHGEF3:NM_001377409:exon14:c.T1613C:p.V538A,ARHGEF3:NM_001377408:exon15:c.T1613C:p.V538A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.059	0.0148333833362	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.86e-07	6.841e-07	0	1.38e-06	1.169e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.169e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.005	0.65419	D	0.013	0.63918	D	0.0	0.07471	B	0.001	0.10090	B	0.001347	0.39310	N	0.111526	0.875162	0.35639	D	0.895	0.22405	L	1.73	0.29342	T	-0.77	0.21429	N	0.352	0.49146	-1.0694	0.09545	T	0.070	0.28577	T	10	0.13107926	0.24947	T	0.014833	0.35199	T	0.059	0.16972	0.216	0.13643	0.236619781664	0.23270	0.2788461101496022	0.27797	0.145477071591	0.16437	0.677927732468	0.63971	T	0.03586	0.23881	T	-0.189182	0.22377	T	-0.509523	0.21363	T	0.590241134166718	0.36016	D	0.860114	0.55285	D	0.073734075	0.16497	0.08979573	0.21019	0.073734075	0.16497	0.08979573	0.21018	-7.239	0.56693	T	.	.	0.097	0.32202	B	.;.;.;.;.	.;.;.;.;.	2.597349	0.33703	19.42	0.98271513732365534	0.39768	0.94514	0.61411	D	AEFGBI	0.381394	0.46367	N	-0.112173054150492	0.36863	2.136539	0.051074141658476	0.42125	2.542452	0.999586113387944	0.40607	0.706548	0.73137	0	0.724815	0.89359	0	0.67347	0.61138	0	0.714379	0.83352	0	.	.	5.94	5.94	0.96165	3.395000	0.52301	8.032000	0.76277	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.175000	0.21139	1.0:0.0:0.0:0.0	16.398	0.83459	384	0.83545	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1191.83	37	chr3	56729274	.	A	G	1191.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.878;DP=331;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.41;ReadPosRankSum=0.183;SOR=0.729	GT:AD:DP:GQ:PL	0/1:49,47:96:99:1202,0,1274	5	0	1	0
chr3	63912809	63912809	T	G	exonic	ATXN7	.	nonsynonymous SNV	ATXN7:NM_001177387:exon2:c.T211G:p.S71A,ATXN7:NM_001377406:exon2:c.T211G:p.S71A,ATXN7:NM_000333:exon3:c.T211G:p.S71A,ATXN7:NM_001377405:exon3:c.T211G:p.S71A	Spinocerebellar ataxia 7, Autosomal dominant	1	1517	4	0	0	4	0.00131666	.	.	.	205437	not_provided|Abnormality_of_neuronal_migration	MedGen:C3661900|Human_Phenotype_Ontology:HP:0002269,Human_Phenotype_Ontology:HP:0007317,MedGen:C1837249	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.045	0.0172955138425	0.0007	.	0.0006	0.0001	0	0	0	0.0010	0.0013	0	0.0004269	66	154602	rs201561286	0.0004	0.0004	0.0004	0.0004	0.0007	0.0003	0.0003	0.0002	0.0002	0.0001	0	0.0125	0	0	0.0007	0.0001	0.0012	2.431e-05	0.0005	0.0005	0.0005	0.0004	6.568e-05	0.0004	0.0003	1.981e-05	1.13e-05	4.84e-05	0	6.568e-05	0.0177	0	0	0	5.919e-05	0.0014	0	0.429	0.10980	T	0.114	0.38891	T	0.001	0.07471	B	0.001	0.06944	B	0.279070	0.14979	N	0.598130	0.965872	0.25919	N	0.695	0.17993	N	1.41	0.33412	T	-0.14	0.09135	N	0.174	0.19325	-0.9756	0.35993	T	0.034	0.14596	T	10	0.006044239	0.00136	T	0.017296	0.38942	T	0.045	0.12272	.	.	0.322284741503	0.31843	0.12574496820860298	0.14106	.	.	0.87267267704	0.92949	D	0.069252	0.33663	T	-0.314994	0.07315	T	-0.398095	0.33606	T	0.0604210256057831	0.07235	T	0.30037	0.05618	T	0.09729778	0.22933	0.08364016	0.19182	0.13301006	0.30952	0.093548566	0.22100	-2.814	0.08313	T	.	.	0.067	0.04041	B	.;.;.;.;.	.;.;.;.;.	2.103695	0.26765	17.23	0.96918329780256729	0.31605	0.56856	0.30225	D	AEFDGBHCI	0.084157	0.17054	N	-0.723406012256135	0.15364	0.7736977	-0.594490526011373	0.19635	1.054423	0.999999620142603	0.74766	0.024636	0.00146	3	0.218748	0.04544	0	0.239995	0.05000	1	0.56214	0.19341	0	.	.	3.79	1.14	0.19817	0.954000	0.28772	4.183000	0.42351	0.596000	0.33519	1.000000	0.71638	1.000000	0.68203	0.986000	0.61781	0.218:0.0:0.2852:0.4968	5.221	0.14687	459	0.78817	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	0.000521	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.08333	611.83	42	chr3	63912809	.	T	G	611.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.313;DP=240;ExcessHet=0;FS=0.998;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.2;ReadPosRankSum=0.111;SOR=0.471	GT:AD:DP:GQ:PL	0/1:30,30:60:99:622,0,650	5	0	1	0
chr3	75730451	75730451	T	G	exonic	ZNF717	.	stoploss	ZNF717:NM_001324027:exon7:c.A2396C:p.X799S	.	432	314	768	8	0	784	0.555241	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000461	12	26028	rs75952318	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	13019.5	77	chr3	75730451	.	T	G	13019.5	.	AC=6;AF=0.5;AN=12;BaseQRankSum=-1.837;DP=693;ExcessHet=11.5949;FS=10.929;MLEAC=6;MLEAF=0.5;MQ=54.36;MQRankSum=-6.149;QD=19.06;ReadPosRankSum=0.458;SOR=0.276	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:42,108:150:99:0|1:75730450_C_T:4357,0,1429:75730450	0	0	6	0
chr3	75730611	75730611	G	T	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001324027:exon7:c.C2236A:p.L746I	.	434	899	189	0	0	189	0.0951183	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0330413	860	26028	rs73841587	5.455e-06	4.771e-06	3.964e-06	6.718e-06	9.364e-05	1.45e-06	4e-07	2.481e-05	1.287e-05	0	0	0	9.364e-05	0	0	0	0	0	6.571e-06	6.567e-06	0	1.345e-05	.	0	0	.	.	0	0	0	0	0	9.418e-05	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	102.52	52	chr3	75730611	.	G	T	102.52	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.28;DP=336;ExcessHet=0;FS=17.96;MLEAC=1;MLEAF=0.083;MQ=56.91;MQRankSum=-4.443;QD=1.74;ReadPosRankSum=-0.445;SOR=3.794	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:52,7:59:99:0|1:75730591_G_A:112,0,2162:75730591	5	0	1	0
chr3	75736884	75736884	-	A	exonic	ZNF717	.	stoploss	ZNF717:NM_001128223:exon5:c.2738dupT:p.*915delinsLNTQPTPLWLLLQISPCSV*,ZNF717:NM_001290208:exon5:c.2738dupT:p.*915delinsLNTQPTPLWLLLQISPCSV*,ZNF717:NM_001290209:exon5:c.2588dupT:p.*865delinsLNTQPTPLWLLLQISPCSV*	.	408	790	324	0	0	324	0.170168	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0673505	1753	26028	rs149076283	2.008e-05	1.984e-05	1.697e-05	2.328e-05	2.801e-05	1.393e-05	1.199e-05	1.594e-05	1.347e-05	0	0	0	2.801e-05	0	0	2.322e-05	1.729e-05	1.281e-05	1.313e-05	1.312e-05	2.569e-05	0	2.939e-05	2.18e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.939e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4167	4036.48	106	chr3	75736884	.	G	GA	4036.48	.	AC=5;AF=0.417;AN=12;BaseQRankSum=-0.401;DP=744;ExcessHet=6.1542;FS=0.598;MLEAC=5;MLEAF=0.417;MQ=56.86;MQRankSum=-7.488;QD=6.61;ReadPosRankSum=0.624;SOR=0.631	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:122,43:165:99:.:.:744,0,4465:.	1	0	5	0
chr3	75736891	75736891	G	A	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.C2732T:p.S911F,ZNF717:NM_001290208:exon5:c.C2732T:p.S911F,ZNF717:NM_001290209:exon5:c.C2582T:p.S861F	.	413	564	544	0	1	545	0.325359	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.061	0.00165921998894	.	.	.	.	.	.	.	.	.	.	0.0107192	279	26028	rs77747132	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.038	0.42783	D	0.001	0.83351	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	3.22	0.07024	T	-1.16	0.29727	N	0.094	0.07398	-0.9320	0.43844	T	0.010	0.03856	T	9	0.06138295	0.07688	T	0.001659	0.02728	T	0.061	0.17616	.	.	0.0138822411134	0.00435	0.004917126878572224	0.00463	.	.	0.422835052013	0.28227	T	.	.	.	-0.173524	0.24704	T	-0.487032	0.23703	T	0.330072145045039	0.26228	T	0.353565	0.07967	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.167	0.36732	B	.	.	1.343956	0.17510	13.20	0.99194171637765427	0.55083	0.00118	0.00744	N	AEFDBCI	0.022343	0.01105	N	-1.23987897260233	0.04434	0.2001198	-1.31939943106607	0.04180	0.1966005	0.999947639461096	0.47345	0.562547	0.31514	0	0.653731	0.59785	0	0.517114	0.09559	2	0.264475	0.05362	3	.	.	1.54	-0.734	0.10579	-0.650000	0.05477	.	.	0.542000	0.25261	0.000000	0.06391	0.000000	0.08366	0.005000	0.06747	0.3382:0.0:0.6618:0.0	5.509	0.16158	987	0.02648	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	8233.55	110	chr3	75736891	.	G	A	8233.55	.	AC=6;AF=0.5;AN=12;BaseQRankSum=-1.281;DP=746;ExcessHet=11.5949;FS=0;MLEAC=6;MLEAF=0.5;MQ=56.82;MQRankSum=-7.424;QD=11.17;ReadPosRankSum=0.579;SOR=0.684	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:92,80:172:99:.:.:2578,0,3597:.	0	0	6	0
chr3	75736920	75736920	C	A	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.G2703T:p.E901D,ZNF717:NM_001290208:exon5:c.G2703T:p.E901D,ZNF717:NM_001290209:exon5:c.G2553T:p.E851D	.	404	577	541	0	0	541	0.319174	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.103	0.00110452594305	.	.	.	.	.	.	.	.	.	.	0.071231	1854	26028	rs111230396	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3	0.14497	T	0.062	0.45318	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	3.23	0.06931	T	-1.02	0.26843	N	0.085	0.06190	-0.9483	0.41263	T	0.010	0.03627	T	9	0.058318764	0.06838	T	0.001105	0.01312	T	0.103	0.29403	.	.	0.0138822411134	0.00435	0.0015786287646668746	0.00145	.	.	0.445909142494	0.31386	T	.	.	.	-0.17615	0.24310	T	-0.490804	0.23306	T	0.0638085464059829	0.07754	T	0.121888	0.00944	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.116	0.23500	B	.	.	0.610910	0.09792	6.559	0.89825184067637265	0.19134	0.00196	0.01131	N	AEFDBCI	0.022523	0.01136	N	-1.22540343885655	0.04634	0.2095599	-1.32633955667091	0.04093	0.1923357	0.999959091878699	0.48110	0.562547	0.31514	0	0.653731	0.59785	0	0.634913	0.45138	1	0.264475	0.05362	3	.	.	0.741	-0.249	0.12368	1.331000	0.33398	.	.	0.482000	0.22156	0.001000	0.13787	0.000000	0.08366	0.002000	0.04165	0.0:0.6566:0.0:0.3434	3.115	0.05989	987	0.02648	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	8377.55	114	chr3	75736920	.	C	A	8377.55	.	AC=6;AF=0.5;AN=12;BaseQRankSum=-1.446;DP=776;ExcessHet=11.5949;FS=1.202;MLEAC=6;MLEAF=0.5;MQ=55.33;MQRankSum=-6.069;QD=10.84;ReadPosRankSum=0.12;SOR=0.654	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:98,78:176:99:0|1:75736920_C_A:2980,0,3880:75736920	0	0	6	0
chr3	75736928	75736928	C	T	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.G2695A:p.V899I,ZNF717:NM_001290208:exon5:c.G2695A:p.V899I,ZNF717:NM_001290209:exon5:c.G2545A:p.V849I	.	411	571	539	1	0	541	0.32145	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.112	0.00121036639884	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs74593105	0.0001	0.0002	0.0001	0.0001	0.0026	0.0001	0.0001	0.0016	0.0013	0.0008	8.267e-05	0	8.274e-05	0	0.0026	8.845e-05	0.0003	0.0004	0.0003	0.0003	0.0002	0.0003	0.0006	0.0002	0.0002	0.0004	0.0004	0.0006	0	0	0	0	0	0	0.0001	0	0.0006	0.38	0.11191	T	0.025	0.56192	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	3.32	0.06214	T	0.07	0.06138	N	0.026	0.00527	-0.9474	0.41414	T	0.008	0.02926	T	9	0.09491852	0.16914	T	0.00121	0.01583	T	0.112	0.31546	.	.	0.0138822411134	0.00435	7.206520044993825E-4	0.00066	.	.	0.389449685812	0.23592	T	.	.	.	-0.217344	0.18358	T	-0.549976	0.17329	T	0.104380803558879	0.12832	T	0.0709929	0.00518	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.082	0.08948	B	.	.	0.653467	0.10217	6.957	0.91771767316116259	0.21074	0.00105	0.00673	N	AEFDBCI	0.020476	0.00813	N	-1.22446334774296	0.04648	0.2101895	-1.31163951798627	0.04279	0.2014874	0.999941810098761	0.47345	0.562547	0.31514	0	0.653731	0.59785	0	0.634913	0.45138	1	0.264475	0.05362	3	.	.	1.29	0.364	0.15359	-0.265000	0.08671	.	.	0.482000	0.22156	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.7401:0.0:0.2599	3.729	0.08012	987	0.02648	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	8051.55	115	chr3	75736928	.	C	T	8051.55	.	AC=6;AF=0.5;AN=12;BaseQRankSum=1.94;DP=759;ExcessHet=11.5949;FS=1.205;MLEAC=6;MLEAF=0.5;MQ=54.84;MQRankSum=-7.061;QD=10.61;ReadPosRankSum=0;SOR=0.693	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:96,72:168:99:0|1:75736920_C_A:2734,0,3814:75736920	0	0	6	0
chr3	75736981	75736981	T	C	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.A2642G:p.Q881R,ZNF717:NM_001290208:exon5:c.A2642G:p.Q881R,ZNF717:NM_001290209:exon5:c.A2492G:p.Q831R	.	394	765	361	2	0	365	0.192612	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.100	0.000733824032747	.	.	.	.	.	.	.	.	.	.	0.0486399	1266	26028	rs75085872	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.534	0.06935	T	0.328	0.18675	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	5.46	0.00959	T	-0.86	0.23372	N	0.037	0.01135	-0.9235	0.45070	T	0.002	0.00526	T	9	0.048223555	0.04243	T	7.34E-4	0.00491	T	0.100	0.28662	.	.	0.0138822411134	0.00435	5.567766943860148E-4	0.00051	.	.	0.401793837547	0.25319	T	.	.	.	-0.241342	0.15177	T	-0.584447	0.14150	T	0.043195366142589	0.04273	T	0.0990901	0.00735	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.225	0.45665	B	.	.	0.535899	0.09045	5.828	0.71875029535553825	0.09778	0.00552	0.02527	N	AEFDBHCI	0.039909	0.05861	N	-1.49109708187503	0.01912	0.08392857	-1.53516138275096	0.02080	0.09511815	0.999952974710247	0.48110	0.562547	0.31514	0	0.653731	0.59785	0	0.0	0.00061	3	0.264475	0.05362	3	.	.	1.92	-0.78	0.10416	-4.136000	0.00326	.	.	-1.203000	0.01359	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.2929:0.1901:0.0:0.5171	1.651	0.02605	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.4	4768.39	116	chr3	75736981	.	T	C	4768.39	.	AC=4;AF=0.4;AN=10;BaseQRankSum=-0.623;DP=764;ExcessHet=3.1439;FS=0;MLEAC=4;MLEAF=0.4;MQ=51.73;MQRankSum=-7.808;QD=9.28;ReadPosRankSum=-0.63;SOR=0.71	GT:AD:DP:GQ:PL	0/1:75,59:134:99:1607,0,2315	1	0	4	1
chr3	75737012	75737012	C	T	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.G2611A:p.E871K,ZNF717:NM_001290208:exon5:c.G2611A:p.E871K,ZNF717:NM_001290209:exon5:c.G2461A:p.E821K	.	386	662	466	8	0	482	0.266888	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.117	0.0010545400782	.	.	.	.	.	.	.	.	.	.	0.0444521	1157	26028	rs75096310	0	6.841e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.934	0.02228	T	0.289	0.21078	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	2.16	0.19166	T	-0.66	0.19085	N	0.072	0.04547	-0.9570	0.39735	T	0.015	0.05946	T	9	0.029257268	0.01053	T	0.001055	0.01191	T	0.117	0.32689	.	.	0.0138822411134	0.00435	0.0019455304358727955	0.00180	.	.	0.341237813234	0.16623	T	.	.	.	-0.238107	0.15590	T	-0.5798	0.14563	T	0.0632113878371354	0.07664	T	0.059894	0.00434	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.124	0.26200	B	.	.	1.575632	0.20165	14.62	0.84215655419281732	0.15163	0.00232	0.01297	N	AEFDBHCI	0.027833	0.02344	N	-1.41055986614139	0.02545	0.1125291	-1.43935631045541	0.02868	0.1327212	0.999943869570154	0.47345	0.562547	0.31514	0	0.653731	0.59785	0	0.517114	0.09559	2	0.756233	0.99697	0	.	.	1.92	-0.00832	0.13329	-3.006000	0.00714	.	.	-1.281000	0.01268	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2577:0.4021:0.0:0.3403	2.041	0.03335	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.4167	7373.61	117	chr3	75737012	.	C	T	7373.61	.	AC=5;AF=0.417;AN=12;BaseQRankSum=-2.452;DP=824;ExcessHet=6.1542;FS=0;MLEAC=5;MLEAF=0.417;MQ=53.1;MQRankSum=-5.8;QD=10.84;ReadPosRankSum=-0.019;SOR=0.712	GT:AD:DP:GQ:PL	0/1:60,85:145:99:2231,0,1941	1	0	5	0
chr3	75737060	75737060	A	G	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.T2563C:p.S855P,ZNF717:NM_001290208:exon5:c.T2563C:p.S855P,ZNF717:NM_001290209:exon5:c.T2413C:p.S805P	.	379	596	534	13	0	560	0.319635	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.160	0.000628152010991	.	.	.	.	.	.	.	.	.	.	0.0548256	1427	26028	rs77715040	8.282e-06	8.895e-06	4.114e-06	1.25e-05	1.183e-05	4.42e-06	3.49e-06	5.34e-06	3.9e-06	0	0	0	0	0	0	9.948e-06	0	1.183e-05	1.314e-05	1.313e-05	1.284e-05	1.345e-05	2.939e-05	2.18e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.939e-05	0	0	0.013	0.53900	D	0.003	0.76473	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	3.15	0.07820	T	-3.1	0.63554	D	0.116	0.10483	-1.0427	0.16503	T	0.033	0.14029	T	9	0.09637886	0.17284	T	6.28E-4	0.00319	T	0.160	0.41473	.	.	0.0138822411134	0.00435	0.009052444588593512	0.00868	.	.	0.566062688828	0.48122	T	.	.	.	-0.167764	0.25573	T	-0.478758	0.24578	T	0.297621607780457	0.24905	T	0.79872	0.44372	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.550	0.66781	A	.	.	2.370076	0.30412	18.43	0.98191942080542327	0.39045	0.00784	0.03216	N	AEFDBHCI	0.085768	0.17389	N	-0.771083796564405	0.14068	0.6978022	-0.955324100233036	0.10800	0.5462925	0.999957637849619	0.48110	0.69289	0.55638	0	0.78372	0.99691	0	0.517114	0.09559	2	0.264475	0.05362	3	.	.	1.59	1.59	0.22622	-2.936000	0.00751	.	.	0.610000	0.48991	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	1.0:0.0:0.0:0.0	7.316	0.25675	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	10091.9	126	chr3	75737060	.	A	G	10091.9	.	AC=5;AF=0.5;AN=10;BaseQRankSum=-1.234;DP=933;ExcessHet=6.1542;FS=1.729;MLEAC=5;MLEAF=0.5;MQ=53.3;MQRankSum=-6.147;QD=12.74;ReadPosRankSum=0.642;SOR=0.829	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:82,101:183:99:.:.:2294,0,2837:.	0	0	5	1
chr3	75737092	75737092	C	T	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.G2531A:p.C844Y,ZNF717:NM_001290208:exon5:c.G2531A:p.C844Y,ZNF717:NM_001290209:exon5:c.G2381A:p.C794Y	.	382	490	638	12	0	662	0.403167	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.402	0.00342039862449	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs139633377	6.975e-07	1.369e-06	1.383e-06	0	9.107e-07	0	0	.	.	0	0	0	0	0	0	9.107e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.015	0.61642	D	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	-1.94	0.84919	D	-7.52	0.95102	D	0.208	0.23125	-0.0500	0.81206	T	0.770	0.92171	D	9	0.30394778	0.47923	T	0.00342	0.07694	T	0.402	0.71558	.	.	0.578941962908	0.57563	0.02342305612139971	0.02294	.	.	0.721298933029	0.70236	T	.	.	.	0.128852	0.67249	D	-0.0526902	0.66838	D	0.914417432390081	0.57105	D	0.80432	0.45191	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.889	0.82003	P	.	.	2.732693	0.35776	19.99	0.91222742361264963	0.20479	0.19094	0.20525	N	AEFDBHCI	0.116885	0.22922	N	0.127215796981728	0.47735	2.995096	-0.201159305983142	0.31494	1.782947	0.999998666164745	0.74766	0.69289	0.55638	0	0.78372	0.99691	0	0.517114	0.09559	2	0.264475	0.05362	3	.	.	1.46	0.518	0.16228	4.030000	0.56971	.	.	0.487000	0.22268	0.993000	0.37899	0.000000	0.08366	0.025000	0.12405	0.0:0.7965:0.0:0.2035	5.69	0.17097	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	14603.5	144	chr3	75737092	.	C	T	14603.5	.	AC=6;AF=0.5;AN=12;BaseQRankSum=-2.748;DP=978;ExcessHet=11.5949;FS=4.135;MLEAC=6;MLEAF=0.5;MQ=55.3;MQRankSum=-7.283;QD=15.1;ReadPosRankSum=1.16;SOR=0.971	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:105,99:204:99:0|1:75737092_C_T:3841,0,4090:75737092	0	0	6	0
chr3	75737094	75737094	T	A	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.A2529T:p.R843S,ZNF717:NM_001290208:exon5:c.A2529T:p.R843S,ZNF717:NM_001290209:exon5:c.A2379T:p.R793S	.	386	488	636	12	0	660	0.403423	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.187	0.00139168871644	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs149660902	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.487	0.08067	T	0.021	0.58089	D	.	.	.	.	.	.	.	.	.	.	1	0.29002	N	.	.	.	2.5	0.14408	T	0.12	0.05604	N	0.171	0.18239	-0.9656	0.38092	T	0.015	0.05849	T	9	0.041348934	0.02782	T	0.001392	0.02037	T	0.187	0.46274	.	.	0.0138822411134	0.00435	0.003970010212323737	0.00371	.	.	0.350422680378	0.17984	T	.	.	.	-0.230087	0.16639	T	-0.568281	0.15607	T	0.0363333960522166	0.03039	T	0.50295	0.15803	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.364	0.57473	A	.	.	0.927565	0.13027	9.531	0.78772853777929608	0.12446	0.00288	0.01547	N	AEFDBHCI	0.032938	0.03815	N	-1.56864543804847	0.01428	0.06230873	-1.65490256639135	0.01351	0.06097677	0.999968767302643	0.48965	0.69289	0.55638	0	0.78372	0.99691	0	0.517114	0.09559	2	0.264475	0.05362	3	.	.	1.46	-1.65	0.07849	-1.617000	0.02154	.	.	-1.209000	0.01353	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.2432:0.1819:0.2457:0.3291	0.098	0.00042	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	14688.5	146	chr3	75737094	.	T	A	14688.5	.	AC=6;AF=0.5;AN=12;BaseQRankSum=-2.276;DP=982;ExcessHet=11.5949;FS=4.135;MLEAC=6;MLEAF=0.5;MQ=55.38;MQRankSum=-7.608;QD=15.03;ReadPosRankSum=0.959;SOR=0.991	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:105,100:205:99:0|1:75737092_C_T:3883,0,4087:75737092	0	0	6	0
chr3	75737105	75737105	T	A	exonic	ZNF717	.	stopgain	ZNF717:NM_001128223:exon5:c.A2518T:p.K840X,ZNF717:NM_001290208:exon5:c.A2518T:p.K840X,ZNF717:NM_001290209:exon5:c.A2368T:p.K790X	.	386	483	643	10	0	663	0.406998	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0502536	1308	26028	rs113251431	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.032	0.00825	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.493707	0.94111	D	0.471	0.94033	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.648710	0.92795	33	0.9890268774789388	0.48217	0.46426	0.27757	N	AEFDBHCI	0.042646	0.06644	N	0.188175099212538	0.50632	3.251287	-0.154561253355241	0.33234	1.898897	0.999999961661622	0.74766	0.69289	0.55638	0	0.78372	0.99691	0	0.517114	0.09559	2	0.264475	0.05362	3	.	.	1.59	1.59	0.22622	3.121000	0.50131	.	.	0.539000	0.25131	1.000000	0.71638	0.000000	0.08366	0.011000	0.09372	0.0:0.0:0.0:1.0	7.316	0.25675	987	0.02648	Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	14221.5	141	chr3	75737105	.	T	A	14221.5	.	AC=6;AF=0.5;AN=12;BaseQRankSum=-2.488;DP=959;ExcessHet=11.5949;FS=6.075;MLEAC=6;MLEAF=0.5;MQ=55.85;MQRankSum=-8.077;QD=14.91;ReadPosRankSum=0.522;SOR=1.107	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:108,99:207:99:0|1:75737092_C_T:3832,0,4237:75737092	0	0	6	0
chr3	75737127	75737127	A	C	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.T2496G:p.H832Q,ZNF717:NM_001290208:exon5:c.T2496G:p.H832Q,ZNF717:NM_001290209:exon5:c.T2346G:p.H782Q	.	384	545	585	8	0	601	0.355411	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.462	0.0028455442474	.	.	.	.	.	.	.	.	.	.	0.064008	1666	26028	rs79811623	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	-2.18	0.86722	D	-5.94	0.89093	D	0.203	0.22486	0.069	0.83596	D	0.747	0.91362	D	9	0.25438643	0.42818	T	0.002846	0.05956	T	0.462	0.75889	.	.	0.358340041657	0.35441	0.0053718602075851244	0.00508	.	.	0.740122795105	0.72990	T	.	.	.	0.0996688	0.64257	D	-0.0946091	0.63811	T	0.721620917320251	0.41781	D	0.784422	0.42203	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.946	0.86443	P	.	.	1.863242	0.23667	16.11	0.75650377613460507	0.11157	0.04138	0.09621	N	AEFDBHCI	0.080253	0.16223	N	-0.306900910275906	0.28885	1.597038	-0.631394962146373	0.18688	0.9994579	0.99995045990878	0.48110	0.632932	0.41330	0	0.666794	0.63253	0	0.002978	0.00130	3	0.756233	0.99697	0	.	.	1.59	0.372	0.15405	0.061000	0.14242	.	.	0.575000	0.29119	0.037000	0.20830	0.000000	0.08366	0.001000	0.02609	0.8077:0.0:0.1923:0.0	4.797	0.12647	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	12533.5	142	chr3	75737127	.	A	C	12533.5	.	AC=6;AF=0.5;AN=12;BaseQRankSum=0.717;DP=908;ExcessHet=11.5949;FS=9.645;MLEAC=6;MLEAF=0.5;MQ=56.36;MQRankSum=-9.402;QD=13.9;ReadPosRankSum=0.942;SOR=1.291	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:108,88:196:99:0|1:75737092_C_T:3370,0,4270:75737092	0	0	6	0
chr3	75737164	75737172	CTACATTCT	-	exonic	ZNF717	.	nonframeshift deletion	ZNF717:NM_001128223:exon5:c.2451_2459del:p.E818_R820del,ZNF717:NM_001290208:exon5:c.2451_2459del:p.E818_R820del,ZNF717:NM_001290209:exon5:c.2301_2309del:p.E768_R770del	.	392	660	463	7	0	477	0.265442	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.012256	319	26028	rs66703079	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	6966.51	126	chr3	75737163	.	CCTACATTCT	C	6966.51	.	AC=6;AF=0.5;AN=12;BaseQRankSum=1.84;DP=751;ExcessHet=11.5949;FS=19.854;MLEAC=6;MLEAF=0.5;MQ=56.8;MQRankSum=-9.984;QD=9.4;ReadPosRankSum=0.438;SOR=1.835	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:102,45:147:99:0|1:75737092_C_T:1583,0,4138:75737092	0	0	6	0
chr3	75737228	75737228	T	C	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.A2395G:p.T799A,ZNF717:NM_001290208:exon5:c.A2395G:p.T799A,ZNF717:NM_001290209:exon5:c.A2245G:p.T749A	.	388	1009	125	0	0	125	0.0583294	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.015	0.00065624303644	.	.	.	.	.	.	.	.	.	.	0.161595	4206	26028	rs80170761	1.428e-06	1.368e-06	1.409e-06	1.447e-06	1.852e-06	2.4e-07	9e-08	3.1e-07	1.2e-07	0	0	0	0	0	0	1.852e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.475	0.08359	T	0.182	0.29249	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	2.5	0.14408	T	-0.37	0.13226	N	0.031	0.00770	-0.9782	0.35413	T	0.017	0.07092	T	9	0.04005146	0.02542	T	6.56E-4	0.00350	T	0.015	0.02232	.	.	0.0138822411134	0.00435	0.0025070030530107983	0.00232	.	.	0.570732712746	0.48781	T	.	.	.	-0.29288	0.09349	T	-0.658479	0.08369	T	0.0214846075820914	0.00852	T	0.448455	0.12604	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.100	0.17189	B	.	.	0.201526	0.05865	2.303	0.46300880358559965	0.03698	0.00280	0.01512	N	AEFDBHCI	0.025509	0.01757	N	-1.44896954151032	0.02225	0.09801469	-1.50829558445683	0.02280	0.1046078	0.999662543695307	0.41534	0.69289	0.55638	0	0.78372	0.99691	0	0.517114	0.09559	2	0.264475	0.05362	3	.	.	1.79	0.509	0.16177	-3.477000	0.00510	.	.	-0.233000	0.07663	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.4406:0.0:0.0:0.5593	4.801	0.12662	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.25	585.32	92	chr3	75737228	.	T	C	585.32	.	AC=3;AF=0.25;AN=12;BaseQRankSum=4.33;DP=570;ExcessHet=1.383;FS=51.057;MLEAC=3;MLEAF=0.25;MQ=57.87;MQRankSum=-8.441;QD=1.98;ReadPosRankSum=-1.548;SOR=5.33	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:90,8:98:65:0|1:75737228_T_C:65,0,3716:75737228	3	0	3	0
chr3	75737519	75737519	G	A	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.C2104T:p.P702S,ZNF717:NM_001290208:exon5:c.C2104T:p.P702S,ZNF717:NM_001290209:exon5:c.C1954T:p.P652S,ZNF717:NM_001324027:exon5:c.C2104T:p.P702S	.	378	414	722	8	0	738	0.471264	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.231	0.0020371222204	.	.	.	.	.	.	.	.	.	.	0.0847549	2206	26028	rs80089603	0.0009	0.0009	0.0010	0.0008	0.0241	0.0009	0.0009	0.0227	0.0221	0.0241	0.0014	0.0065	0.0009	0	0.0016	6.293e-05	0.0031	0.0001	0.0071	0.0074	0.0072	0.0070	0.0235	0.0067	0.0066	0.0223	0.0218	0.0235	0	0.0024	0.0084	0.0025	0	0.0034	4.409e-05	0.0071	0.0006	0.014	0.53172	D	0.014	0.62352	D	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	3.28	0.06523	T	-2.65	0.56787	D	0.082	0.05799	-0.9616	0.38877	T	0.011	0.04274	T	9	0.0059270263	0.00133	T	0.002037	0.03721	T	0.231	0.53208	.	.	0.0297737177859	0.01360	0.030845822720570865	0.03033	.	.	0.227284103632	0.01773	T	.	.	.	-0.138909	0.30065	T	-0.437309	0.29111	T	0.612736403942108	0.36911	D	0.140186	0.01129	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.121	0.25166	B	.	.	2.134754	0.27180	17.37	0.9793642767632269	0.36999	0.50764	0.28739	D	AEFDBHCI	0.281183	0.39482	N	-0.656716686745216	0.17265	0.8869353	-0.759493038371137	0.15489	0.8148735	0.999998040796218	0.74766	0.460665	0.09802	0	0.601575	0.49859	0	0.575934	0.27490	0	0.756233	0.99697	0	.	.	1.27	0.281	0.14938	5.209000	0.65041	.	.	0.560000	0.28382	1.000000	0.71638	0.000000	0.08366	0.002000	0.04165	0.0:0.0:0.7085:0.2915	6.406	0.20867	987	0.02648	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	18140.6	125	chr3	75737519	.	G	A	18140.6	.	AC=6;AF=0.5;AN=12;BaseQRankSum=-0.512;DP=968;ExcessHet=11.5949;FS=2.432;MLEAC=6;MLEAF=0.5;MQ=56.18;MQRankSum=-5.291;QD=19.83;ReadPosRankSum=0.906;SOR=0.703	GT:AD:DP:GQ:PL	0/1:67,122:189:99:4620,0,2154	0	0	6	0
chr3	75737590	75737590	A	G	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.T2033C:p.M678T,ZNF717:NM_001290208:exon5:c.T2033C:p.M678T,ZNF717:NM_001290209:exon5:c.T1883C:p.M628T,ZNF717:NM_001324027:exon5:c.T2033C:p.M678T	.	380	344	789	9	0	807	0.539799	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.064	0.000918803670254	.	.	.	.	.	.	.	.	.	.	0.0043031	112	26028	rs79103664	2.155e-06	3.424e-06	1.417e-06	2.914e-06	1.862e-06	5.7e-07	1.6e-07	3.1e-07	1.2e-07	0	0	0	0	0	0	1.862e-06	1.736e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.577	0.06049	T	0.136	0.34009	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	3.17	0.07599	T	0.82	0.01813	N	0.035	0.01004	-0.9135	0.46415	T	0.010	0.03492	T	9	0.047419846	0.04058	T	9.19E-4	0.00889	T	0.064	0.18567	.	.	0.0138822411134	0.00435	0.020703910282481648	0.02023	.	.	0.269451141357	0.06069	T	.	.	.	-0.256687	0.13292	T	-0.606489	0.12271	T	0.0260274478999564	0.01409	T	0.0606939	0.00442	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.140	0.30634	B	.	.	-0.571595	0.01651	0.116	0.41969334367691202	0.03062	0.00342	0.01773	N	AEFDBHCI	0.055927	0.10297	N	-1.5270329997039	0.01674	0.07322606	-1.61933844482173	0.01542	0.06986147	0.999968620109732	0.48965	0.475973	0.10046	0	0.601575	0.49859	0	0.486962	0.07600	0	0.264475	0.05362	3	.	.	1.57	-2.35	0.06302	-4.932000	0.00197	.	.	-1.902000	0.00523	0.000000	0.06391	0.000000	0.08366	0.008000	0.08271	0.5391:0.0:0.0:0.4609	5.111	0.14145	987	0.02648	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	18889.6	138	chr3	75737590	.	A	G	18889.6	.	AC=6;AF=0.5;AN=12;BaseQRankSum=-1.33;DP=1024;ExcessHet=11.5949;FS=0.518;MLEAC=6;MLEAF=0.5;MQ=53.24;MQRankSum=-9.909;QD=18.83;ReadPosRankSum=0.183;SOR=0.638	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:89,127:216:99:0|1:75737590_A_G:5040,0,3355:75737590	0	0	6	0
chr3	75737608	75737608	T	C	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.A2015G:p.K672R,ZNF717:NM_001290208:exon5:c.A2015G:p.K672R,ZNF717:NM_001290209:exon5:c.A1865G:p.K622R,ZNF717:NM_001324027:exon5:c.A2015G:p.K672R	.	399	323	791	9	0	809	0.556014	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.059	0.003971670348	.	.	.	.	.	.	.	.	.	.	0.0466805	1215	26028	rs75759940	4.311e-06	4.109e-06	2.835e-06	5.828e-06	5.588e-06	1.55e-06	1.02e-06	2.01e-06	1.32e-06	0	0	0	0	0	0	5.588e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.027	0.46513	D	0.001	0.83351	D	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	3.16	0.07711	T	-0.9	0.24244	N	0.034	0.00942	-0.9500	0.40972	T	0.008	0.02926	T	9	0.049818516	0.04624	T	0.003972	0.09400	T	0.059	0.16972	.	.	0.0138822411134	0.00435	0.005655336952012324	0.00535	.	.	0.307848095894	0.11582	T	.	.	.	-0.255831	0.13391	T	-0.60526	0.12373	T	0.0589383841193725	0.07000	T	0.19898	0.02226	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.091	0.13268	B	.	.	1.223152	0.16170	12.37	0.86139736186920213	0.16339	0.00629	0.02767	N	AEDBHCI	0.051131	0.09005	N	-1.64554763938136	0.01054	0.04572823	-1.67922087383407	0.01232	0.05551315	0.99998526063166	0.51787	0.475973	0.10046	0	0.601575	0.49859	0	0.486962	0.07600	0	0.264475	0.05362	3	.	.	1.57	-3.14	0.04928	-0.248000	0.08872	.	.	-1.039000	0.01670	0.792000	0.29619	0.000000	0.08366	0.001000	0.02609	0.0:0.4304:0.3244:0.2451	4.750	0.12430	987	0.02648	Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	19771.6	132	chr3	75737608	.	T	C	19771.6	.	AC=6;AF=0.5;AN=12;BaseQRankSum=1.15;DP=1043;ExcessHet=11.5949;FS=0;MLEAC=6;MLEAF=0.5;MQ=52.93;MQRankSum=-11.35;QD=19.03;ReadPosRankSum=-0.024;SOR=0.67	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:93,133:226:99:0|1:75737590_A_G:5305,0,3505:75737590	0	0	6	0
chr3	75737622	75737622	T	A	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.A2001T:p.R667S,ZNF717:NM_001290208:exon5:c.A2001T:p.R667S,ZNF717:NM_001290209:exon5:c.A1851T:p.R617S,ZNF717:NM_001324027:exon5:c.A2001T:p.R667S	.	390	339	783	10	0	803	0.542201	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.148	0.00187641351265	.	.	.	.	.	.	.	.	.	.	0.0503688	1311	26028	rs76175438	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	0.49613	D	0.042	0.50226	D	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	2.96	0.09542	T	-3.88	0.72710	D	0.189	0.20660	-1.0544	0.13198	T	0.045	0.19478	T	9	0.11718443	0.22126	T	0.001876	0.03272	T	0.148	0.39182	.	.	0.0138822411134	0.00435	0.02830632002622666	0.02780	.	.	0.34867143631	0.17727	T	.	.	.	-0.180088	0.23722	T	-0.496461	0.22715	T	0.343506299687112	0.26762	T	0.413359	0.10763	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.582	0.68127	P	.	.	2.295364	0.29365	18.10	0.84579906210778943	0.15375	0.01716	0.05441	N	AEFDBHCI	0.093535	0.18923	N	-0.671626443351997	0.16833	0.8611102	-0.960126716317775	0.10688	0.5399544	0.999967844770143	0.48965	0.475973	0.10046	0	0.601575	0.49859	0	0.486962	0.07600	0	0.264475	0.05362	3	.	.	1.71	0.405	0.15579	-1.876000	0.01725	.	.	0.551000	0.28136	0.000000	0.06391	0.000000	0.08366	0.008000	0.08271	0.2583:0.0:0.0:0.7417	5.213	0.14647	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	20599.6	137	chr3	75737622	.	T	A	20599.6	.	AC=6;AF=0.5;AN=12;BaseQRankSum=-2.019;DP=1067;ExcessHet=11.5949;FS=0.521;MLEAC=6;MLEAF=0.5;MQ=53.44;MQRankSum=-10.56;QD=19.38;ReadPosRankSum=-0.787;SOR=0.625	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:90,133:223:99:0|1:75737590_A_G:5314,0,3379:75737590	0	0	6	0
chr3	75737651	75737651	G	A	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.C1972T:p.R658C,ZNF717:NM_001290208:exon5:c.C1972T:p.R658C,ZNF717:NM_001290209:exon5:c.C1822T:p.R608C,ZNF717:NM_001324027:exon5:c.C1972T:p.R658C	.	400	343	772	7	0	786	0.533967	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.133	0.00153184105349	.	.	.	.	.	.	.	.	.	.	0.0285462	743	26028	rs77826574	6.031e-05	7.327e-05	6.658e-05	5.386e-05	0.0004	4.978e-05	4.582e-05	9.298e-05	6.561e-05	3.182e-05	0.0002	0	5.661e-05	0	0.0004	5.584e-05	0.0001	7.603e-05	5.383e-05	7.906e-05	6.569e-05	4.138e-05	0.0002	2.611e-05	1.869e-05	1.982e-05	1.131e-05	5.043e-05	0	6.658e-05	0	0	0	0	5.922e-05	0	0.0002	0.067	0.35918	T	0.169	0.30534	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	5.42	0.00999	T	-3.07	0.63207	D	0.105	0.08925	-0.8711	0.50446	T	0.003	0.01026	T	9	0.085398704	0.14414	T	0.001532	0.02394	T	0.133	0.36157	.	.	0.0482279557977	0.04254	0.024591376914232316	0.02410	.	.	0.41199272871	0.26732	T	.	.	.	-0.203544	0.20296	T	-0.530154	0.19270	T	0.177544683043135	0.19078	T	0.0464954	0.00331	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.238	0.47195	B	.	.	1.962068	0.24926	16.58	0.86866792728357911	0.16827	0.00357	0.01833	N	AEFDBHCI	0.053804	0.09728	N	-0.680381306712077	0.16582	0.8460908	-0.915126681668579	0.11737	0.5997874	0.999961843561367	0.48965	0.460665	0.09802	0	0.546412	0.12157	0	0.575934	0.27490	0	0.756233	0.99697	0	.	.	1.71	0.774	0.17665	-0.426000	0.07076	.	.	-0.244000	0.07312	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.185:0.0:0.5297:0.2853	2.500	0.04348	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	20953.6	128	chr3	75737651	.	G	A	20953.6	.	AC=6;AF=0.5;AN=12;BaseQRankSum=1.58;DP=1070;ExcessHet=11.5949;FS=1.1;MLEAC=6;MLEAF=0.5;MQ=54.4;MQRankSum=-9.631;QD=19.67;ReadPosRankSum=-1.06;SOR=0.733	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:89,139:228:99:0|1:75737590_A_G:5569,0,3319:75737590	0	0	6	0
chr3	75737676	75737676	A	T	exonic	ZNF717	.	stopgain	ZNF717:NM_001128223:exon5:c.T1947A:p.C649X,ZNF717:NM_001290208:exon5:c.T1947A:p.C649X,ZNF717:NM_001290209:exon5:c.T1797A:p.C599X,ZNF717:NM_001324027:exon5:c.T1947A:p.C649X	.	512	238	765	7	0	779	0.620717	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0560934	1460	26028	rs79635065	0	6.854e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.025	0.00485	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.356406	0.86974	D	0.274176	0.86805	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.913720	0.80871	27.4	0.97584058415749686	0.34753	0.02032	0.06091	N	AEFDBHCI	0.117194	0.22969	N	-0.0787027714682291	0.38328	2.243117	-0.47253526279424	0.22914	1.246949	0.999961225158915	0.48965	0.460665	0.09802	0	0.546412	0.12157	0	0.575934	0.27490	0	0.756233	0.99697	0	.	.	1.71	1.71	0.23429	0.625000	0.24171	.	.	0.517000	0.23534	0.432000	0.26424	0.000000	0.08366	0.002000	0.04165	0.6786:0.0:0.0:0.3214	3.984	0.08997	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	20224.6	113	chr3	75737676	.	A	T	20224.6	.	AC=6;AF=0.5;AN=12;BaseQRankSum=1.82;DP=1046;ExcessHet=11.5949;FS=1.101;MLEAC=6;MLEAF=0.5;MQ=55.24;MQRankSum=-7.284;QD=19.48;ReadPosRankSum=0.094;SOR=0.591	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:86,148:234:99:0|1:75737590_A_G:5956,0,3166:75737590	0	0	6	0
chr3	75737840	75737840	C	T	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.G1783A:p.E595K,ZNF717:NM_001290208:exon5:c.G1783A:p.E595K,ZNF717:NM_001290209:exon5:c.G1633A:p.E545K,ZNF717:NM_001324027:exon5:c.G1783A:p.E595K	.	370	419	727	6	0	739	0.468611	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.063	0.000881827712362	.	.	.	.	.	.	.	.	.	.	0.0177117	461	26028	rs76496075	2.859e-06	4.104e-06	4.231e-06	1.449e-06	3.707e-06	6.7e-07	4.5e-07	8.7e-07	5.9e-07	0	0	0	0	0	0	3.707e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.099	0.30656	T	0.022	0.57587	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	3.2	0.07236	T	-2.3	0.51157	N	0.164	0.17278	-1.0162	0.24948	T	0.024	0.10058	T	9	0.10873449	0.20253	T	8.82E-4	0.00800	T	0.063	0.18251	.	.	0.0138822411134	0.00435	0.00774685412423065	0.00739	.	.	0.43924510479	0.30473	T	.	.	.	-0.112376	0.34376	T	-0.399197	0.33477	T	0.387678323599846	0.28476	T	0.0947905	0.00704	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.193	0.41357	B	.	.	1.271536	0.16702	12.71	0.99193801633277179	0.55053	0.00456	0.02204	N	AEFDBHCI	0.032518	0.03688	N	-0.56728006039535	0.19945	1.047804	-0.791629829841235	0.14701	0.7694518	0.999948745414493	0.47345	0.0	0.00013	3	0.636889	0.57051	0	0.473483	0.07196	2	0.0	0.00009	3	.	.	1.9	0.993	0.18943	-0.240000	0.08970	.	.	0.415000	0.20742	0.000000	0.06391	0.000000	0.08366	0.023000	0.12082	0.0:0.8279:0.0:0.1721	6.443	0.21064	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	8497.8	130	chr3	75737840	.	C	T	8497.8	.	AC=5;AF=0.5;AN=10;BaseQRankSum=-1.906;DP=1033;ExcessHet=6.1542;FS=10.627;MLEAC=5;MLEAF=0.5;MQ=59.07;MQRankSum=-4.792;QD=10.04;ReadPosRankSum=-0.081;SOR=0.907	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:122,108:230:99:1|0:75737791_C_A:4013,0,4514:75737791	0	0	5	1
chr3	75737881	75737881	T	C	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.A1742G:p.H581R,ZNF717:NM_001290208:exon5:c.A1742G:p.H581R,ZNF717:NM_001290209:exon5:c.A1592G:p.H531R,ZNF717:NM_001324027:exon5:c.A1742G:p.H581R	.	356	594	572	0	0	572	0.325	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.389	0.00618583320825	.	.	.	.	.	.	.	.	.	.	0.0154833	403	26028	rs76729736	5.018e-06	5.475e-06	2.829e-06	7.267e-06	8.44e-05	2.09e-06	1.34e-06	2.237e-05	1.22e-05	3.194e-05	0	0	8.44e-05	0	0	0	0	3.792e-05	1.313e-05	1.312e-05	1.284e-05	1.342e-05	0.0002	2.18e-06	8.2e-07	.	.	2.405e-05	0	0	0	0.0002	0	0	0	0	0	0.031	0.45039	D	0.023	0.57104	D	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	-2.18	0.86722	D	-7.28	0.94430	D	0.235	0.26475	0.078	0.83778	D	0.691	0.89323	D	9	0.15374556	0.29014	T	0.006186	0.16200	T	0.389	0.70521	.	.	0.26547132957	0.26150	0.029317279208247043	0.02880	.	.	0.705122470856	0.67885	T	.	.	.	0.0863372	0.62775	D	-0.113759	0.62311	T	0.349910879008873	0.27015	T	0.751425	0.37327	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.804	0.77471	P	.	.	1.529838	0.19634	14.36	0.57541806715571575	0.05792	0.27383	0.23262	N	AEFDBHCIJ	0.135649	0.25605	N	-0.602165132605538	0.18879	0.9837148	-0.767266515667793	0.15298	0.8039007	0.999994431577383	0.74766	0.566229	0.32551	0	0.615513	0.52658	0	0.486962	0.07600	0	0.264475	0.05362	3	.	.	1.76	0.513	0.16200	2.229000	0.42634	.	.	-0.220000	0.07995	1.000000	0.71638	0.067000	0.22148	0.002000	0.04165	0.0:0.1678:0.0:0.8322	5.415	0.15671	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4167	4782.52	124	chr3	75737881	.	T	C	4782.52	.	AC=5;AF=0.417;AN=12;BaseQRankSum=-0.545;DP=905;ExcessHet=6.1542;FS=26.886;MLEAC=5;MLEAF=0.417;MQ=58.38;MQRankSum=-7.065;QD=6.38;ReadPosRankSum=-4.483;SOR=1.569	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:136,60:196:99:0|1:75737881_T_C:1854,0,5432:75737881	1	0	5	0
chr3	75737891	75737891	-	AAAT	exonic	ZNF717	.	frameshift insertion	ZNF717:NM_001128223:exon5:c.1731_1732insATTT:p.L578Ifs*16,ZNF717:NM_001290208:exon5:c.1731_1732insATTT:p.L578Ifs*16,ZNF717:NM_001290209:exon5:c.1581_1582insATTT:p.L528Ifs*16,ZNF717:NM_001324027:exon5:c.1731_1732insATTT:p.L578Ifs*16	.	353	691	477	1	0	479	0.257389	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0004995	13	26028	rs369928577	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4167	3573.48	124	chr3	75737891	.	G	GAAAT	3573.48	.	AC=5;AF=0.417;AN=12;BaseQRankSum=0.247;DP=867;ExcessHet=6.1542;FS=28.355;MLEAC=5;MLEAF=0.417;MQ=58.29;MQRankSum=-7.54;QD=4.86;ReadPosRankSum=-3.515;SOR=1.902	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:141,49:190:99:0|1:75737881_T_C:1520,0,5733:75737881	1	0	5	0
chr3	75737893	75737893	-	CTT	exonic	ZNF717	.	stopgain	ZNF717:NM_001128223:exon5:c.1729_1730insAAG:p.F577_P914del,ZNF717:NM_001290208:exon5:c.1729_1730insAAG:p.F577_P914del,ZNF717:NM_001290209:exon5:c.1579_1580insAAG:p.F527_P864del,ZNF717:NM_001324027:exon5:c.1729_1730insAAG:p.F577_N798del	.	356	680	485	1	0	487	0.263671	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0023052	60	26028	rs373780316	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4167	3214.48	124	chr3	75737893	.	A	ACTT	3214.48	.	AC=5;AF=0.417;AN=12;BaseQRankSum=0.202;DP=857;ExcessHet=6.1542;FS=30.899;MLEAC=5;MLEAF=0.417;MQ=58.25;MQRankSum=-7.518;QD=4.43;ReadPosRankSum=-2.586;SOR=2.094	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:143,45:188:99:0|1:75737881_T_C:1418,0,5806:75737881	1	0	5	0
chr3	75738008	75738008	C	T	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.G1615A:p.E539K,ZNF717:NM_001290208:exon5:c.G1615A:p.E539K,ZNF717:NM_001290209:exon5:c.G1465A:p.E489K,ZNF717:NM_001324027:exon5:c.G1615A:p.E539K	.	374	899	248	1	0	250	0.12207	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.040	0.00103100052401	.	.	0.0035	0	0	0	0	0.0041	0	0.0070	0.0381512	993	26028	rs77322475	0.0003	0.0005	0.0003	0.0004	0.0006	0.0003	0.0003	0.0005	0.0004	0.0002	3.974e-05	0.0002	0	2.459e-05	0	0.0004	0.0002	0.0006	0.0003	0.0004	0.0003	0.0004	0.0054	0.0003	0.0002	0.0038	0.0032	0.0001	0	0	0.0003	0	9.43e-05	0	0.0002	0.0009	0.0054	0.057	0.37966	T	0.059	0.45961	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	3.2	0.07236	T	-2.57	0.55501	D	0.164	0.17278	-0.9770	0.35683	T	0.011	0.04042	T	9	0.006899923	0.00157	T	0.001031	0.01144	T	0.040	0.10527	.	.	0.0138822411134	0.00435	0.004688527706481307	0.00441	.	.	0.455887436867	0.32748	T	.	.	.	-0.247215	0.14443	T	-0.592883	0.13417	T	0.0202189277908029	0.00722	T	0.157184	0.01392	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.163	0.35931	B	.	.	0.663217	0.10314	7.047	0.74861509555931272	0.10855	0.00293	0.01568	N	AEFDBHCIJ	0.019046	0.00627	N	-1.65826808888533	0.01001	0.04337943	-1.78840371790065	0.00797	0.0355687	0.999985886557565	0.51787	0.566229	0.32551	0	0.615513	0.52658	0	0.575934	0.27490	0	0.264475	0.05362	3	.	.	1.8	-3.59	0.04290	-1.723000	0.01966	.	.	-1.085000	0.01553	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.1742:0.3948:0.172:0.259	0.971	0.01326	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2	2081.77	144	chr3	75738008	.	C	T	2081.77	.	AC=2;AF=0.2;AN=10;BaseQRankSum=-0.935;DP=890;ExcessHet=0.4139;FS=14.74;MLEAC=2;MLEAF=0.2;MQ=55.71;MQRankSum=-10.49;QD=5.82;ReadPosRankSum=3.31;SOR=1.338	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:152,41:193:99:0|1:75737994_T_C:1253,0,6228:75737994	3	0	2	1
chr3	75738053	75738053	C	A	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.G1570T:p.V524F,ZNF717:NM_001290208:exon5:c.G1570T:p.V524F,ZNF717:NM_001290209:exon5:c.G1420T:p.V474F,ZNF717:NM_001324027:exon5:c.G1570T:p.V524F	.	359	1071	92	0	0	92	0.0411817	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.074	0.00104650146877	.	.	.	.	.	.	.	.	.	.	.	.	.	rs75063165	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.049	0.39820	D	0.157	0.31730	T	.	.	.	.	.	.	.	.	.	.	1	0.19072	N	.	.	.	3.18	0.07478	T	-2.6	0.55983	D	0.148	0.15046	-1.0173	0.24592	T	0.014	0.05753	T	9	0.11586878	0.21842	T	0.001047	0.01191	T	0.074	0.21613	.	.	0.0138822411134	0.00435	0.0034182461744823667	0.00319	.	.	0.563414692879	0.47750	T	.	.	.	-0.246862	0.14487	T	-0.592376	0.13461	T	0.28954122460075	0.24571	T	0.0661934	0.00482	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.411	0.60172	A	.	.	0.533719	0.09024	5.806	0.95230003730299473	0.26460	0.00215	0.01220	N	AEFDBHCIJ	0.026943	0.02113	N	-1.1142521379857	0.06388	0.2939498	-1.36117125995018	0.03676	0.1719606	0.99999365082094	0.74766	0.566229	0.32551	0	0.615513	0.52658	0	0.575934	0.27490	0	0.264475	0.05362	3	.	.	1.79	-3.58	0.04303	-3.170000	0.00633	.	.	-2.136000	0.00379	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.2892:0.3399:0.3708	4.138	0.09647	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2	1648.77	169	chr3	75738053	.	C	A	1648.77	.	AC=2;AF=0.2;AN=10;BaseQRankSum=-2.819;DP=962;ExcessHet=0.4139;FS=3.216;MLEAC=2;MLEAF=0.2;MQ=56.12;MQRankSum=-9.771;QD=4.78;ReadPosRankSum=-1.188;SOR=0.955	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:150,36:186:99:0|1:75737994_T_C:1060,0,6190:75737994	3	0	2	1
chr3	75738071	75738071	A	G	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.T1552C:p.C518R,ZNF717:NM_001290208:exon5:c.T1552C:p.C518R,ZNF717:NM_001290209:exon5:c.T1402C:p.C468R,ZNF717:NM_001324027:exon5:c.T1552C:p.C518R	.	356	1145	20	0	1	21	0.00865801	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.031	0.000738598015433	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs78680336	1.676e-06	1.383e-06	1.643e-06	1.712e-06	2.128e-06	2.8e-07	1e-07	3.5e-07	1.3e-07	0	0	0	0	0	0	2.128e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.38	0.11191	T	0.621	0.07419	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	3.21	0.07125	T	2.23	0.00314	N	0.019	0.00279	-0.9149	0.46233	T	0.007	0.02360	T	9	0.046755195	0.03906	T	7.39E-4	0.00510	T	0.031	0.07369	.	.	0.0138822411134	0.00435	0.002225550650649705	0.00206	.	.	0.525679767132	0.42426	T	.	.	.	-0.29785	0.08864	T	-0.665617	0.07892	T	0.0535102972529573	0.06106	T	0.0253975	0.00153	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.304	0.53324	B	.	.	-1.114804	0.00623	0.016	0.37644118236720736	0.02493	0.00136	0.00836	N	AEFDBHCIJ	0.016194	0.00350	N	-1.60520409349473	0.01239	0.05388159	-1.61920287810212	0.01543	0.06989911	0.999942708847049	0.47345	0.566229	0.32551	0	0.615513	0.52658	0	0.575934	0.27490	0	0.264475	0.05362	3	.	.	1.79	-0.593	0.11083	-1.649000	0.02095	.	.	-2.516000	0.00258	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.17:0.0:0.3549:0.4751	2.786	0.05043	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2	824.77	172	chr3	75738071	.	A	G	824.77	.	AC=2;AF=0.2;AN=10;BaseQRankSum=-1.113;DP=928;ExcessHet=0.4139;FS=9.115;MLEAC=2;MLEAF=0.2;MQ=56.88;MQRankSum=-8.496;QD=2.7;ReadPosRankSum=-1.786;SOR=1.179	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:135,24:159:99:0|1:75737994_T_C:601,0,5596:75737994	3	0	2	1
chr3	75738074	75738074	G	A	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.C1549T:p.R517C,ZNF717:NM_001290208:exon5:c.C1549T:p.R517C,ZNF717:NM_001290209:exon5:c.C1399T:p.R467C,ZNF717:NM_001324027:exon5:c.C1549T:p.R517C	.	352	1156	14	0	0	14	0.00601892	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.059	0.00168171448549	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs370022573	2.178e-05	2.351e-05	2.299e-05	2.052e-05	7.637e-05	1.515e-05	1.287e-05	2.05e-05	1.277e-05	7.382e-05	0	0	7.637e-05	0	0	1.914e-05	0	6.214e-05	1.314e-05	2.625e-05	0	2.686e-05	0.0002	2.18e-06	8.2e-07	.	.	0	0	0	0	0	0	0	1.47e-05	0	0.0002	0.159	0.23813	T	0.3	0.20357	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	3.11	0.08194	T	-0.06	0.07882	N	0.048	0.01999	-0.9892	0.32803	T	0.016	0.06569	T	9	0.03303978	0.01470	T	0.001682	0.02779	T	0.059	0.16972	.	.	0.0138822411134	0.00435	0.002613494462515561	0.00242	.	.	0.5004529953	0.38892	T	.	.	.	-0.277008	0.10988	T	-0.635679	0.09988	T	0.0130366375576749	0.00227	T	0.0907909	0.00672	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.224	0.45520	B	.	.	0.194387	0.05799	2.242	0.73132658542385853	0.10218	0.00363	0.01856	N	AEFDBHCIJ	0.023887	0.01396	N	-1.62321359239289	0.01153	0.05010462	-1.76099622892232	0.00892	0.03989968	0.999989264977476	0.51787	0.460665	0.09802	0	0.636889	0.57051	0	0.575934	0.27490	0	0.264475	0.05362	3	.	.	1.79	-3.58	0.04303	-2.248000	0.01271	.	.	-5.905000	0.00006	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.629:0.1528:0.2182:0.0	5.171	0.14438	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2	761.76	169	chr3	75738074	.	G	A	761.76	.	AC=2;AF=0.2;AN=10;BaseQRankSum=0.443;DP=917;ExcessHet=0.4139;FS=11.871;MLEAC=2;MLEAF=0.2;MQ=56.91;MQRankSum=-8.196;QD=2.57;ReadPosRankSum=-2.016;SOR=1.494	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:131,23:154:99:0|1:75737994_T_C:571,0,5431:75737994	3	0	2	1
chr3	75738077	75738077	A	C	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.T1546G:p.F516V,ZNF717:NM_001290208:exon5:c.T1546G:p.F516V,ZNF717:NM_001290209:exon5:c.T1396G:p.F466V,ZNF717:NM_001324027:exon5:c.T1546G:p.F516V	.	351	1158	13	0	0	13	0.00558179	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.273	0.00436624551321	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs78763958	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	0.99	0.41750	T	-6.9	0.93293	D	0.254	0.28732	-0.7956	0.55403	T	0.314	0.68424	T	9	0.37955025	0.54090	T	0.004366	0.10624	T	0.273	0.58883	.	.	0.134241683229	0.13084	0.004951265273006765	0.00467	.	.	0.695522069931	0.66498	T	.	.	.	-0.0135903	0.49761	T	-0.257298	0.49093	T	0.969250798225403	0.68526	D	0.390061	0.09662	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.758	0.75417	P	.	.	2.832235	0.37339	20.5	0.96884311371509557	0.31473	0.34734	0.25137	N	AEFDBHCIJ	0.282251	0.39563	N	0.258654387862171	0.54069	3.573403	-0.0427249932617247	0.37806	2.218651	0.999999981817215	0.74766	0.460665	0.09802	0	0.636889	0.57051	0	0.575934	0.27490	0	0.264475	0.05362	3	.	.	1.91	1.91	0.24841	4.720000	0.61636	.	.	0.610000	0.48991	0.993000	0.37899	0.919000	0.28284	0.003000	0.05239	1.0:0.0:0.0:0.0	7.900	0.28894	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2	692.77	169	chr3	75738077	.	A	C	692.77	.	AC=2;AF=0.2;AN=10;BaseQRankSum=-2.044;DP=897;ExcessHet=0.4139;FS=17.077;MLEAC=2;MLEAF=0.2;MQ=57.01;MQRankSum=-8.228;QD=2.4;ReadPosRankSum=-2.38;SOR=1.638	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:129,22:151:99:0|1:75737994_T_C:535,0,5350:75737994	3	0	2	1
chr3	75738100	75738100	T	C	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.A1523G:p.E508G,ZNF717:NM_001290208:exon5:c.A1523G:p.E508G,ZNF717:NM_001290209:exon5:c.A1373G:p.E458G,ZNF717:NM_001324027:exon5:c.A1523G:p.E508G	.	348	1167	7	0	0	7	0.00299018	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.056	0.00108464547182	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.383e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	7.222e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.021	0.49117	D	0.034	0.52727	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	3.17	0.07599	T	-4.64	0.79316	D	0.093	0.07262	-0.9647	0.38270	T	0.018	0.07518	T	9	0.0837622	0.13969	T	0.001085	0.01263	T	0.056	0.15993	.	.	0.0297737177859	0.01360	0.0024874068709695107	0.00230	.	.	0.391209244728	0.23840	T	.	.	.	-0.207823	0.19686	T	-0.5363	0.18662	T	0.836542546749115	0.49048	D	0.0133987	0.00072	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.210	0.43721	B	.	.	1.912526	0.24293	16.34	0.99674252685792053	0.78782	0.00841	0.03370	N	AEFDBHCIJ	0.042616	0.06635	N	-0.890987982149614	0.11055	0.5315283	-0.985280104525926	0.10115	0.5074318	0.999965122713944	0.48965	0.566229	0.32551	0	0.615513	0.52658	0	0.575934	0.27490	0	0.264475	0.05362	3	.	.	1.9	-1.16	0.09181	-0.659000	0.05423	.	.	0.539000	0.25131	0.000000	0.06391	0.000000	0.08366	0.005000	0.06747	0.4643:0.1624:0.0:0.3733	2.211	0.03707	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1	95.13	159	chr3	75738100	.	T	C	95.13	.	AC=1;AF=0.1;AN=10;BaseQRankSum=1.11;DP=837;ExcessHet=0;FS=11.818;MLEAC=1;MLEAF=0.1;MQ=57.85;MQRankSum=-7.213;QD=0.73;ReadPosRankSum=-3.129;SOR=1.694	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:119,11:130:99:0|1:75737994_T_C:104,0,4964:75737994	4	0	1	1
chr3	75739165	75739165	C	T	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.G458A:p.G153E,ZNF717:NM_001290208:exon5:c.G458A:p.G153E,ZNF717:NM_001290209:exon5:c.G308A:p.G103E,ZNF717:NM_001324027:exon5:c.G458A:p.G153E	.	426	716	379	1	0	381	0.210149	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.131	0.00294703274024	.	.	.	.	.	.	.	.	.	.	0.0484862	1262	26028	rs79165653	3.574e-06	3.42e-06	1.411e-06	5.798e-06	0.0001	1.05e-06	7.6e-07	5.451e-05	3.56e-05	0	0	0	0.0001	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.197	0.20607	T	0.074	0.42976	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.0	0.41392	T	-2.66	0.56945	D	0.098	0.07949	-1.0050	0.28457	T	0.128	0.43625	T	9	0.097314626	0.17517	T	0.002947	0.06280	T	0.131	0.35738	.	.	0.0401082797425	0.02173	0.0035025799895356665	0.00327	.	.	0.341039121151	0.16594	T	.	.	.	-0.112133	0.34416	T	-0.398848	0.33517	T	0.425942718982697	0.29910	T	0.179282	0.01775	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.205	0.43032	B	.	.	0.873037	0.12461	8.992	0.65778472644257657	0.07869	0.01043	0.03895	N	AEFDBCI	.	.	.	-0.639186145779198	0.17776	0.9175853	-0.902737289243841	0.12029	0.6164352	0.999962026466227	0.48965	0.69289	0.55638	0	0.636889	0.57051	0	0.517114	0.09559	2	0.264475	0.05362	3	.	.	2.07	0.059	0.13643	0.766000	0.26225	.	.	0.439000	0.21057	0.011000	0.18532	0.000000	0.08366	0.002000	0.04165	0.0:0.638:0.2172:0.1447	5.008	0.13643	987	0.02648	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.4167	1997.52	70	chr3	75739165	.	C	T	1997.52	.	AC=5;AF=0.417;AN=12;BaseQRankSum=-1.495;DP=533;ExcessHet=6.1542;FS=31.345;MLEAC=5;MLEAF=0.417;MQ=54.48;MQRankSum=-8.249;QD=4.42;ReadPosRankSum=-0.837;SOR=1.728	GT:AD:DP:GQ:PL	0/1:85,46:131:99:1045,0,2471	1	0	5	0
chr3	75739283	75739283	G	T	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.C340A:p.Q114K,ZNF717:NM_001290208:exon5:c.C340A:p.Q114K,ZNF717:NM_001290209:exon5:c.C190A:p.Q64K,ZNF717:NM_001324027:exon5:c.C340A:p.Q114K	.	430	419	666	7	0	680	0.447958	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.115	0.00164498502106	.	.	.	.	.	.	.	.	.	.	0.0684647	1782	26028	rs4011155	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.979	0.02012	T	0.602	0.07894	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	0.91	0.44856	T	-0.17	0.09627	N	0.04	0.01347	-1.0394	0.17495	T	0.052	0.22269	T	9	0.04538721	0.03603	T	0.001645	0.02676	T	0.115	0.32236	.	.	0.0138822411134	0.00435	0.01612756142273845	0.01568	.	.	0.421879798174	0.28096	T	.	.	.	-0.0408301	0.45825	T	-0.296426	0.45101	T	0.177929786236283	0.19104	T	0.340666	0.07366	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.205	0.43102	B	.	.	0.246741	0.06266	2.719	0.63846773733670814	0.07333	0.00471	0.02257	N	AEFDBCI	.	.	.	-0.990502388475167	0.08805	0.414299	-1.12680793005723	0.07191	0.3488778	0.99994075275372	0.47345	0.0	0.00013	3	0.636889	0.57051	0	0.002978	0.00130	3	0.264475	0.05362	3	.	.	2.13	-0.13	0.12839	0.783000	0.26463	.	.	0.493000	0.22426	0.008000	0.17931	0.055000	0.21918	0.006000	0.07323	0.0:0.4319:0.5681:0.0	8.996	0.35214	987	0.02648	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	4007.55	43	chr3	75739283	.	G	T	4007.55	.	AC=6;AF=0.5;AN=12;BaseQRankSum=-2.04;DP=498;ExcessHet=11.5949;FS=1.149;MLEAC=6;MLEAF=0.5;MQ=52.51;MQRankSum=-4.23;QD=8.47;ReadPosRankSum=1.94;SOR=0.837	GT:AD:DP:GQ:PL	0/1:59,69:128:99:1664,0,1394	0	0	6	0
chr3	97959173	97959173	T	G	exonic	RIOX2	.	nonsynonymous SNV	RIOX2:NM_001042533:exon4:c.A559C:p.I187L,RIOX2:NM_001261829:exon4:c.A559C:p.I187L,RIOX2:NM_032778:exon4:c.A559C:p.I187L,RIOX2:NM_153182:exon4:c.A559C:p.I187L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.124	0.015598348583	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	0.56456	D	0.017	0.60972	D	0.805	0.45210	P	0.442	0.45773	B	0.000000	0.84330	D	0.052356	0.999988	0.54805	D	.	.	.	2.32	0.16640	T	-1.91	0.46146	N	0.616	0.63374	-1.0980	0.04341	T	0.041	0.17615	T	10	0.4291323	0.57374	T	0.015598	0.36422	T	0.124	0.34239	0.58	0.70604	0.290962096972	0.28708	0.537502561756686	0.53675	0.318217532371	0.34054	0.698686242104	0.66954	T	0.060343	0.31361	T	-0.0904001	0.38012	T	-0.36763	0.37167	T	0.86592423915863	0.51601	D	0.90351	0.79334	D	0.9123338	0.92514	0.5686965	0.75030	0.9123338	0.92515	0.5686965	0.75030	-8.978	0.68102	D	.	.	0.398	0.59443	A	.;.;.;.	.;.;.;.	3.563634	0.50160	22.9	0.98831842871779352	0.46969	0.95490	0.64928	D	AEFBI	0.515347	0.54234	D	0.11616824163914	0.47217	2.950515	0.193618112241123	0.49497	3.152111	0.99995516701345	0.48110	0.719381	0.83141	0	0.724815	0.89359	0	0.709663	0.75317	0	0.733575	0.97253	0	.	.	5.71	4.56	0.55644	3.619000	0.53937	0.279000	0.16745	0.665000	0.62972	1.000000	0.71638	0.997000	0.33255	0.996000	0.76049	0.0:0.071:0.0:0.929	11.227	0.48118	798	0.45050	JmjC domain|JmjC domain;JmjC domain|JmjC domain;.;JmjC domain|JmjC domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	227.83	34	chr3	97959173	.	T	G	227.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.11;DP=163;ExcessHet=0;FS=1.808;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.85;ReadPosRankSum=1.1;SOR=1.162	GT:AD:DP:GQ:PL	0/1:12,9:21:99:238,0,322	5	0	1	0
chr3	105702383	105702383	G	A	exonic	CBLB	.	nonsynonymous SNV	CBLB:NM_001321796:exon11:c.C1523T:p.P508L,CBLB:NM_001321799:exon11:c.C1523T:p.P508L,CBLB:NM_001321806:exon11:c.C890T:p.P297L,CBLB:NM_001321811:exon11:c.C890T:p.P297L,CBLB:NM_001321816:exon11:c.C890T:p.P297L,CBLB:NM_001321786:exon12:c.C1754T:p.P585L,CBLB:NM_001321788:exon12:c.C1670T:p.P557L,CBLB:NM_001321789:exon12:c.C1754T:p.P585L,CBLB:NM_001321790:exon12:c.C1736T:p.P579L,CBLB:NM_001321791:exon12:c.C1670T:p.P557L,CBLB:NM_001321793:exon12:c.C1670T:p.P557L,CBLB:NM_001321794:exon12:c.C1670T:p.P557L,CBLB:NM_001321795:exon12:c.C1670T:p.P557L,CBLB:NM_001321797:exon12:c.C1670T:p.P557L,CBLB:NM_001321798:exon12:c.C1670T:p.P557L,CBLB:NM_170662:exon12:c.C1670T:p.P557L,CBLB:NM_001321807:exon13:c.C890T:p.P297L,CBLB:NM_001321808:exon13:c.C890T:p.P297L,CBLB:NM_001321813:exon13:c.C890T:p.P297L,CBLB:NM_001321822:exon13:c.C341T:p.P114L,CBLB:NM_001321820:exon14:c.C482T:p.P161L	.	428	1093	1	0	0	1	0.000457247	.	.	.	137561	not_specified	MedGen:CN169374	no_classification_provided	not_provided	.	.	.	.	.	.	.	.	0.467	0.089863802	0.0002	.	7.421e-05	0	0	0	0	0.0001	0	6.061e-05	7.76e-05	12	154602	rs148064625	0.0001	0.0001	0.0001	0.0001	0.0002	0.0001	0.0001	0.0001	0.0001	5.977e-05	0.0002	0	0	0	0.0002	0.0001	9.946e-05	1.159e-05	0.0002	0.0002	0.0003	0.0001	0.0009	0.0001	0.0001	0.0006	0.0004	2.44e-05	0	0.0009	0	0	0	0	0.0002	0	0	0.001	0.78490	D	0.007	0.72224	D	0.943	0.56202	P	0.414	0.48285	B	0.000000	0.84330	D	0.000000	1	0.81001	D	2.395	0.69210	M	-2.06	0.86077	D	-3.35	0.66436	D	0.449	0.51048	0.186	0.85665	D	0.600	0.85753	D	9	0.457577	0.59085	T	0.089864	0.75407	D	0.467	0.76222	.	.	0.780490870179	0.77847	.	.	0.0561674096798	0.06201	0.656067252159	0.60848	T	0.737165	0.92690	D	-0.0806336	0.39611	T	-0.105292	0.62985	T	0.466509610414505	0.31403	T	0.884012	0.60664	D	0.37194782	0.58729	0.3622462	0.61634	0.37194782	0.58729	0.3622462	0.61633	-8.511	0.64502	D	.	.	0.158	0.44656	B	.;.;.;.	.;.;.;.	3.045504	0.40845	21.2	0.99798877608622738	0.88372	0.93877	0.59450	D	AEFBCI	0.521404	0.54585	D	0.323352785731551	0.57349	3.902	0.342944861508341	0.58085	3.976974	0.99999277017517	0.74766	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	4.99	4.99	0.65942	5.244000	0.65222	8.599000	0.77719	0.585000	0.30472	1.000000	0.71638	1.000000	0.68203	0.491000	0.28814	0.0:0.0:1.0:0.0	16.440	0.83736	953	0.10115	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1007.83	40	chr3	105702383	.	G	A	1007.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.068;DP=257;ExcessHet=0;FS=2.131;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.82;ReadPosRankSum=-0.434;SOR=0.441	GT:AD:DP:GQ:PL	0/1:29,39:68:99:1018,0,727	5	0	1	0
chr3	112063631	112063631	C	A	exonic	TMPRSS7	.	stopgain	TMPRSS7:NM_001042575:exon10:c.C1176A:p.C392X,TMPRSS7:NM_001366279:exon10:c.C1143A:p.C381X	.	.	.	.	.	.	.	.	0.0001	0.228	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.657e-05	0	0	0	0	2.997e-05	0	0	1.94e-05	3	154602	rs150107555	1.233e-05	1.368e-05	1.226e-05	1.239e-05	2.52e-05	7.7e-06	6.36e-06	9.32e-06	7.62e-06	0	0	0	2.52e-05	0	0	1.531e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000000	0.84330	D	0.000000	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.229	0.32591	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.554516	0.95935	D	0.558747	0.95874	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive;.;.	High;.;.	6.028269	0.94381	34	0.98758857114864473	0.45785	0.55165	0.29796	D	AEFBI	0.378822	0.46207	N	-0.0292014983077653	0.40537	2.408992	-0.225303873261245	0.30631	1.726418	8.76885404583739E-5	0.04703	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.79	0.892	0.18364	0.799000	0.26688	0.891000	0.22473	-1.676000	0.00793	1.000000	0.71638	1.000000	0.68203	0.366000	0.26021	0.0:0.2421:0.0:0.7579	9.069	0.35645	706	0.57215	Low-density lipoprotein (LDL) receptor class A, conserved site;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1084.83	34	chr3	112063631	.	C	A	1084.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.587;DP=253;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.56;ReadPosRankSum=0.849;SOR=0.645	GT:AD:DP:GQ:PL	0/1:37,43:80:99:1095,0,948	5	0	1	0
chr3	112123595	112123595	T	C	exonic	GCSAM	.	nonsynonymous SNV	GCSAM:NM_001190260:exon5:c.A352G:p.M118V,GCSAM:NM_001190259:exon6:c.A403G:p.M135V,GCSAM:NM_152785:exon6:c.A397G:p.M133V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.120	0.00147303915255	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1214137173	1.368e-06	1.368e-06	0	2.75e-06	2.236e-05	2.3e-07	9e-08	.	.	0	2.236e-05	0	0	0	0	8.993e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.338330	0.14003	N	0.591337	1	0.08975	N	-0.49	0.02651	N	.	.	.	0.98	0.01866	N	0.032	0.01577	-0.9787	0.35299	T	0.021	0.08686	T	9	0.020571321	0.00476	T	0.001473	0.02241	T	0.120	0.33359	0.131	0.03577	0.0846915920261	0.08053	0.05377365867163555	0.05319	0.130843865944	0.14763	0.312973231077	0.12357	T	0.104069	0.41330	T	-0.157253	0.27185	T	-0.46366	0.26202	T	0.029550542592686	0.01921	T	.	.	.	0.018070228	0.00329	0.02635879	0.00721	0.018070228	0.00329	0.02635879	0.00720	-3.172	0.12432	T	0.03935427311866683	0.00318	0.068	0.04436	B	.;.;.;.	.;.;.;.	-0.422505	0.02130	0.203	0.5601762545830854	0.05463	0.00781	0.03206	N	AEFDGBHCI	0.028004	0.02388	N	-1.46942710061961	0.02069	0.09095755	-1.42550566238279	0.02999	0.1390712	0.999999727332724	0.74766	0.714207	0.82060	0	0.648423	0.57943	0	0.658983	0.55881	0	0.620846	0.47308	0	.	.	3.94	0.754	0.17558	0.487000	0.22064	-0.101000	0.11941	-0.728000	0.03745	0.019000	0.19563	0.000000	0.08366	0.001000	0.02609	0.2124:0.611:0.0:0.1766	3.727	0.08007	830	0.39242	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	1278.83	37	chr3	112123595	.	T	C	1278.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.83;DP=344;ExcessHet=0;FS=0.708;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.42;ReadPosRankSum=1.05;SOR=0.644	GT:AD:DP:GQ:PL	0/1:61,51:112:99:1289,0,1499	5	0	1	0
chr3	119212554	119212554	C	A	exonic	B4GALT4	.	nonsynonymous SNV	B4GALT4:NM_003778:exon8:c.G1030T:p.A344S,B4GALT4:NM_212543:exon9:c.G1030T:p.A344S	.	428	1066	26	2	0	30	0.013876	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.037	.	0.0045	0.00559105	0.0054	0.0017	0.0016	0	0.0005	0.0051	0.0045	0.0175	0.0053363	825	154602	rs150344141	0.0056	0.0057	0.0053	0.0060	0.0145	0.0055	0.0055	0.0138	0.0135	0.0006	0.0018	0.0104	2.527e-05	0.0007	0.0102	0.0056	0.0054	0.0145	0.0041	0.0041	0.0043	0.0038	0.0141	0.0038	0.0037	0.0114	0.0104	0.0011	0.0307	0.0035	0.0115	0.0002	0.0003	0.0068	0.0054	0.0057	0.0141	0.016	0.51853	D	0.0	0.92824	D	0.008	0.14655	B	0.002	0.06944	B	0.091581	0.20319	N	0.490179	1	0.08975	N	2.125	0.59049	M	0.74	0.50459	T	0.67	0.02263	N	0.035	0.01004	-1.0663	0.10246	T	0.048	0.20553	T	10	0.0042735934	0.00086	T	.	.	.	0.037	0.09474	.	.	0.516547797517	0.51297	0.37309424375441586	0.37223	0.505640415308	0.48796	0.285128474236	0.08217	T	0.007383	0.06790	T	-0.608182	0.00130	T	-0.633414	0.10157	T	0.00560085237811389	0.00061	T	0.445455	0.12454	T	0.029506277	0.02456	0.040866252	0.04516	0.029506277	0.02455	0.040866252	0.04515	-2.63	0.06734	T	.	.	0.058	0.00647	B	.;.;.	.;.;.	1.063926	0.14459	11.03	0.98636572047382098	0.43987	0.05468	0.11349	N	AEFGBI	0.036856	0.04976	N	-0.812161497254291	0.12999	0.6373827	-0.767717183410447	0.15287	0.8032646	0.999924729108521	0.46280	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	5.38	2.43	0.28797	0.076000	0.14570	2.901000	0.35450	-0.177000	0.10537	0.001000	0.13787	0.577000	0.25602	0.450000	0.27895	0.1075:0.6205:0.1734:0.0986	6.103	0.19279	392	0.83172	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.011581	0.005051	0.006793	0.011696	0.000000	0.034483	0.015244	0.011364	0.08333	316.83	44	chr3	119212554	.	C	A	316.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.653;DP=254;ExcessHet=0;FS=2.79;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=7.37;ReadPosRankSum=-1.232;SOR=0.317	GT:AD:DP:GQ:PL	0/1:27,16:43:99:327,0,795	5	0	1	0
chr3	121415935	121415935	G	T	exonic	STXBP5L	.	stopgain	STXBP5L:NM_001308330:exon25:c.G3193T:p.G1065X,STXBP5L:NM_001348344:exon25:c.G3193T:p.G1065X,STXBP5L:NM_001348345:exon25:c.G3193T:p.G1065X,STXBP5L:NM_001348343:exon26:c.G3265T:p.G1089X,STXBP5L:NM_014980:exon26:c.G3265T:p.G1089X	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000000	0.84330	D	0.000000	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.538	0.56576	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.622132	0.98769	D	0.655873	0.98747	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive;.;.	High;.;.	9.577266	0.99092	42	0.99155819016829128	0.53959	0.99230	0.93150	D	AEFI	0.378140	0.46165	N	1.22195496931302	0.99726	25.852	1.07708222516889	0.99640	24.66283	0.999998425984378	0.74766	0.615465	0.37627	0	0.573888	0.26702	0	0.658983	0.55881	0	0.613276	0.41899	0	.	.	5.35	5.35	0.76297	9.940000	0.98890	11.789000	0.96319	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.975000	0.56047	0.0:0.0:1.0:0.0	19.087	0.93189	131	0.94738	.;.;.	.	.	.	.	.	Uncertain significance	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	227.83	33	chr3	121415935	.	G	T	227.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.613;DP=247;ExcessHet=0;FS=58.935;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=3.16;ReadPosRankSum=1.59;SOR=5.993	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:53,19:72:99:0|1:121415935_G_T:238,0,1211:121415935	5	0	1	0
chr3	124796649	124796649	C	T	exonic	ITGB5	.	nonsynonymous SNV	ITGB5:NM_001354766:exon9:c.G973A:p.G325R,ITGB5:NM_001354764:exon10:c.G1108A:p.G370R,ITGB5:NM_001354765:exon10:c.G1108A:p.G370R,ITGB5:NM_002213:exon10:c.G1432A:p.G478R	.	422	1085	15	0	0	15	0.00686499	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.118	.	0.0022	0.00519169	0.0049	0.0013	0.0049	0.0002	0.0017	0.0037	0.0078	0.0154	0.0045148	698	154602	rs61736433	0.0036	0.0036	0.0031	0.0040	0.0137	0.0035	0.0035	0.0131	0.0128	0.0004	0.0033	0.0090	0.0001	0.0044	0.0037	0.0028	0.0041	0.0137	0.0029	0.0029	0.0028	0.0030	0.0141	0.0027	0.0026	0.0114	0.0104	0.0006	0.0044	0.0037	0.0104	0.0002	0.0039	0	0.0029	0.0052	0.0141	0.0	0.91255	D	0.005	0.72224	D	0.944	0.53183	P	0.253	0.39112	B	0.002152	0.37138	N	0.306558	0.999579	0.47641	D	1.935	0.51832	L	-2.86	0.91421	D	-4.93	0.81755	D	0.407	0.44761	-0.2440	0.76521	T	0.399	0.75088	T	10	0.0063564777	0.00144	T	.	.	.	0.483	0.77271	0.472	0.54699	0.98084292595	0.98063	0.706664902505345	0.70608	0.27803205231	0.30289	0.472408592701	0.35011	T	0.787822	0.94458	D	-0.210753	0.19274	T	-0.0638318	0.66062	T	0.0529384029627064	0.06009	T	0.785921	0.42389	T	0.3422035	0.56454	0.4849886	0.70189	0.3422035	0.56454	0.4849886	0.70190	-8.399	0.63758	D	.	.	0.126	0.33039	B	.;.	.;.	2.014779	0.25599	16.82	0.9966241162176005	0.78011	0.42617	0.26917	N	AEFDBHCI	0.220960	0.34564	N	-0.178181209886047	0.34045	1.938495	-0.306123564589296	0.27901	1.551533	0.999999920259977	0.74766	0.706548	0.73137	0	0.59043	0.45803	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.26	3.48	0.38946	1.066000	0.30215	0.385000	0.17824	0.599000	0.40250	0.493000	0.26902	0.003000	0.18671	0.017000	0.10941	0.0:0.8558:0.0:0.1442	11.520	0.49794	878	0.29785	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.004028	0.000000	0.002717	0.000000	0.000000	0.000000	0.009146	0.007576	0.08333	985.83	65	chr3	124796649	.	C	T	985.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.125;DP=444;ExcessHet=0;FS=0.783;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.83;ReadPosRankSum=-0.582;SOR=0.591	GT:AD:DP:GQ:PL	0/1:50,41:91:99:996,0,1284	5	0	1	0
chr3	125933674	125933674	T	C	exonic	ALG1L	.	startloss	ALG1L:NM_001015050:exon2:c.A1G:p.M1?,ALG1L:NM_001385067:exon2:c.A1G:p.M1?,ALG1L:NM_001385068:exon2:c.A1G:p.M1?,ALG1L:NM_001195223:exon3:c.A61G:p.M21V,ALG1L:NM_001385064:exon3:c.A61G:p.M21V,ALG1L:NM_001385066:exon3:c.A61G:p.M21V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.255	.	.	.	7.834e-05	0	0	0	0	1.593e-05	0	0.0005	5.82e-05	9	154602	rs767940254	2.807e-05	2.805e-05	1.363e-05	4.266e-05	0.0004	2.088e-05	1.88e-05	0.0003	0.0002	0	2.237e-05	0.0001	0	0	0.0004	8.995e-07	1.658e-05	0.0004	6.572e-06	6.567e-06	0	1.345e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.317	0.13699	T	0.493	0.11443	T	0.0	0.02946	B	0.0	0.01387	B	0.126606	0.02772	N	1.603170	0.70777	0.33487	D	.	.	.	-0.35	0.68616	T	-0.06	0.07882	N	0.111	0.09772	-0.8744	0.50196	T	0.148	0.47362	T	9	0.3986923	0.59800	T	0.007281	0.19307	T	0.255	0.56562	0.948	0.99368	0.104622674875	0.10061	0.352967849344222	0.35210	.	.	.	.	.	0.00168	0.01111	T	-0.451223	0.01111	T	-0.579951	0.14549	T	0.0753070414066315	0.09376	T	0.119188	0.65058	T	0.04980763	0.08902	0.04507626	0.05985	0.04980763	0.08902	0.04507626	0.05985	-6.262	0.48421	T	.	.	0.062	0.01252	B	.;.	.;.	0.160417	0.05509	1.974	0.46521274443205812	0.03732	0.00969	0.03707	N	AEFDBI	0.022064	0.01057	N	-1.0532885806067	0.07523	0.3497645	-1.14279240724524	0.06898	0.3336323	0.253754211965251	0.18708	0.615465	0.37627	0	0.588066	0.40923	0	0.658983	0.55881	0	0.542086	0.14980	0	.	.	2.11	0.674	0.17114	-0.455000	0.06837	.	.	0.306000	0.19039	0.000000	0.06391	0.000000	0.08366	0.157000	0.20547	0.2512:0.0:0.0:0.7488	5.361	0.15391	934	0.15400	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000579	0.000000	0.000000	0.000000	0.000000	0.008772	0.000000	0.000000	0.08333	1335.83	46	chr3	125933674	.	T	C	1335.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.699;DP=308;ExcessHet=0;FS=0.697;MLEAC=1;MLEAF=0.083;MQ=59.96;MQRankSum=0.976;QD=11.23;ReadPosRankSum=-1.171;SOR=0.835	GT:AD:DP:GQ:PL	0/1:62,57:119:99:1346,0,1455	5	0	1	0
chr3	126056501	126056501	G	A	exonic	SLC41A3	.	stopgain	SLC41A3:NM_001008487:exon1:c.C52T:p.R18X	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.307e-05	0	0	0	0	3.018e-05	0	0.0005	6.47e-05	10	154602	rs752352667	4.652e-05	4.652e-05	2.995e-05	6.326e-05	0.0005	3.727e-05	3.411e-05	0.0004	0.0004	0	2.236e-05	0.0001	0	0	0.0003	1.439e-05	1.656e-05	0.0005	6.572e-06	6.567e-06	0	1.345e-05	2.413e-05	0	0	.	.	2.413e-05	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.24	0.27077	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.317236	0.07126	T	-0.388917	0.34678	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.	.;.	2.010198	0.25543	16.80	0.99777034723676394	0.86433	0.46199	0.27707	N	AEFGBCI	0.514638	0.54193	D	-0.133822087013655	0.35924	2.069815	-0.0827057193206265	0.36105	2.096967	0.999978467010098	0.50053	0.428477	0.06694	0	0.547309	0.14657	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	5.2	3.19	0.35720	0.688000	0.25103	1.939000	0.29818	-0.196000	0.09079	0.977000	0.34929	0.026000	0.21063	0.992000	0.67800	0.1144:0.0:0.4042:0.4813	5.464	0.15929	855	0.34697	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.008621	0.000000	0.000000	0.08333	1060.83	55	chr3	126056501	.	G	A	1060.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.869;DP=344;ExcessHet=0;FS=2.516;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=9.91;ReadPosRankSum=-1.585;SOR=1.007	GT:AD:DP:GQ:PL	0/1:58,49:107:99:1071,0,1264	5	0	1	0
chr3	126988711	126988711	C	G	exonic	PLXNA1	.	nonsynonymous SNV	PLXNA1:NM_032242:exon1:c.C118G:p.P40A	.	420	1098	4	0	0	4	0.00181818	.	.	.	3207030	PLXNA1-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.055	0.00428102546057	0.0002	0.00139776	0.0008	0.0001	8.843e-05	0	0	0	0	0.0082	0.0007697	119	154602	rs372314843	0.0004	0.0004	0.0002	0.0006	0.0073	0.0004	0.0004	0.0068	0.0066	0	0	0	0	0	0.0007	3.673e-06	0.0004	0.0073	0.0002	0.0002	0.0001	0.0004	0.0070	0.0002	0.0002	0.0052	0.0045	7.217e-05	0	0	0	0	0	0	0	0	0.0070	0.303	0.14352	T	0.403	0.14865	T	0.0	0.02946	B	0.0	0.01387	B	0.599590	0.05638	N	1.299200	1	0.08975	N	1.905	0.50856	L	2.99	0.09262	T	-0.61	0.18042	N	0.071	0.04426	-0.9607	0.39050	T	0.025	0.10733	T	10	0.0051888525	0.00113	T	0.004281	0.10373	T	0.055	0.15663	.	.	0.138757226776	0.13463	0.38034052077590524	0.37949	0.409882801041	0.41793	0.37333458662	0.21309	T	0.16068	0.50462	T	-0.679731	0.00048	T	-0.746274	0.03633	T	0.0264546568078447	0.01468	T	0.214479	0.02649	T	0.017260943	0.00258	0.019887466	0.00108	0.017260943	0.00258	0.019887466	0.00108	-2.929	0.09436	T	.	.	0.050	0.00136	B	.	.	-0.756008	0.01197	0.059	0.42526470373872266	0.03141	0.07777	0.13775	N	AEFBCI	0.041360	0.06278	N	-1.10121637534329	0.06622	0.3053551	-1.2325817681478	0.05394	0.256904	0.999954829086511	0.48110	0.718356	0.82227	0	0.708844	0.79440	0	0.570548	0.19454	0	0.655142	0.61905	0	.	.	3.56	-4.4	0.03349	-0.074000	0.11410	-1.499000	0.05301	-0.305000	0.06155	0.000000	0.06391	0.000000	0.08366	0.013000	0.09966	0.2224:0.4526:0.2342:0.0908	3.927	0.08767	946	0.12043	Sema domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.08333	1249.83	53	chr3	126988711	.	C	G	1249.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-3.343;DP=297;ExcessHet=0;FS=3.935;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.16;ReadPosRankSum=1.03;SOR=0.384	GT:AD:DP:GQ:PL	0/1:41,54:95:99:1260,0,1098	5	0	1	0
chr3	129586630	129586630	G	C	exonic	PLXND1	.	nonsynonymous SNV	PLXND1:NM_015103:exon3:c.C1578G:p.D526E	.	419	1101	2	0	0	2	0.000907441	.	.	.	2824912	PLXND1-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.207	0.0386893778334	0.0008	0.000399361	0.0015	0.0005	0.0010	0	0	0.0024	0	0.0010	0.0006274	97	154602	rs142772519	0.0019	0.0019	0.0019	0.0018	0.0023	0.0018	0.0018	0.0022	0.0022	6.047e-05	0.0004	3.949e-05	0	5.891e-05	0.0005	0.0023	0.0010	0.0008	0.0009	0.0009	0.0010	0.0009	0.0016	0.0008	0.0008	0.0013	0.0013	0.0002	0	0.0013	0	0.0002	0	0	0.0016	0.0009	0.0004	0.002	0.72154	D	0.031	0.53788	D	0.999	0.77913	D	0.961	0.70482	D	0.000000	0.84330	D	0.000000	0.999988	0.54805	D	2.31	0.66127	M	3.63	0.04353	T	-2.65	0.64826	D	0.589	0.60918	-1.1565	0.00844	T	0.033	0.13986	T	10	0.028432906	0.00975	T	0.038689	0.58371	D	0.207	0.49555	0.39	0.41279	0.639857600353	0.63688	0.8155507093143118	0.81511	0.944256503279	0.72345	0.578715741634	0.49905	T	0.700177	0.91360	D	-0.306123	0.08094	T	-0.217116	0.53014	T	0.0757888182997704	0.09440	T	0.80302	0.45008	T	0.44613156	0.63796	0.45053798	0.68025	0.44613156	0.63796	0.45053798	0.68025	-8.158	0.62141	D	.	.	0.785	0.83001	P	.;.	.;.	3.956459	0.57992	23.9	0.99696368639599975	0.80316	0.89422	0.49877	D	AEFGBHCI	0.413991	0.48344	N	0.328904914058956	0.57636	3.931835	0.250780281641342	0.52693	3.442532	0.999999999895008	0.74766	0.67177	0.52595	0	0.588066	0.40923	0	0.723109	0.80598	0	0.711	0.71501	0	.	.	4.36	2.53	0.29594	1.961000	0.40056	5.022000	0.46754	0.654000	0.53741	1.000000	0.71638	1.000000	0.68203	0.976000	0.56436	0.338:0.0:0.662:0.0	7.697	0.27764	548	0.72362	Sema domain|Sema domain;Sema domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.08333	794.83	44	chr3	129586630	.	G	C	794.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.29;DP=280;ExcessHet=0;FS=4.116;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=8.55;ReadPosRankSum=-0.486;SOR=1.179	GT:AD:DP:GQ:PL	0/1:60,33:93:99:805,0,1489	5	0	1	0
chr3	130384836	130384836	T	C	exonic	COL6A5	.	nonsynonymous SNV	COL6A5:NM_001278298:exon5:c.T1333C:p.F445L,COL6A5:NM_153264:exon5:c.T1333C:p.F445L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.584	0.033496901402	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.157e-07	2.052e-06	0	1.451e-06	9.277e-07	0	0	.	.	0	0	0	0	0	0	9.277e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.434	0.09430	T	0.491	0.11515	T	.	.	.	.	.	.	.	.	.	.	0.999003	0.45857	D	.	.	.	-1.79	0.83815	D	-3.67	0.70191	D	0.518	0.54845	0.131	0.84719	D	0.586	0.85158	D	9	0.7736105	0.77280	D	0.033497	0.55023	D	0.584	0.83305	0.822	0.93461	0.695080635467	0.69245	0.25299334779163424	0.25213	0.0466241647424	0.05070	0.599980771542	0.52901	T	0.334865	0.70455	T	0.0753022	0.61486	D	-0.12961	0.61005	T	0.323202004951066	0.25951	T	0.369563	0.08694	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.932	0.85202	P	.	.	2.621112	0.34067	19.52	0.91552691467780734	0.20830	0.93838	0.59337	D	AEFBHCI	0.723258	0.67293	D	0.292992626821066	0.55794	3.743386	0.299700073977007	0.55523	3.715174	0.999999999908205	0.74766	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	5.82	5.82	0.92740	4.242000	0.58509	1.899000	0.29569	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.710000	0.34452	0.0:0.0:0.0:1.0	15.181	0.72644	402	0.82617	von Willebrand factor, type A|von Willebrand factor, type A|von Willebrand factor, type A	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	677.83	36	chr3	130384836	.	T	C	677.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.19;DP=228;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.3;ReadPosRankSum=-2.074;SOR=0.66	GT:AD:DP:GQ:PL	0/1:33,27:60:99:688,0,862	5	0	1	0
chr3	146110405	146110405	T	C	exonic	PLOD2	.	nonsynonymous SNV	PLOD2:NM_000935:exon4:c.A382G:p.K128E,PLOD2:NM_182943:exon4:c.A382G:p.K128E	Bruck syndrome 2, Autosomal recessive	1	1510	10	1	0	12	0.00395778	.	.	.	289796	Bruck_syndrome_2|not_provided|Osteogenesis_imperfecta	MONDO:MONDO:0012217,MedGen:C1836602,OMIM:609220,Orphanet:2771|MedGen:C3661900|MONDO:MONDO:0019019,MeSH:D010013,MedGen:C0029434,OMIM:PS166200,Orphanet:666	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.439	0.0724579956003	0.0008	0.000199681	0.0007	0	0.0002	0	0	0.0010	0.0011	0.0006	0.0006533	101	154602	rs200569129	0.0008	0.0008	0.0008	0.0009	0.0030	0.0008	0.0008	0.0019	0.0015	0.0001	0.0002	7.656e-05	0	9.38e-05	0.0030	0.0010	0.0008	0.0009	0.0006	0.0006	0.0005	0.0007	0.0012	0.0005	0.0005	0.0009	0.0009	4.81e-05	0	0.0002	0	0	0	0	0.0011	0.0014	0.0012	0.069	0.45393	T	0.03	0.54159	D	1.0	0.90584	D	0.996	0.88582	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.855	0.82945	M	0.96	0.42888	T	-3.73	0.73893	D	0.899	0.95491	-0.3899	0.72345	T	0.296	0.66745	T	10	0.11814535	0.22330	T	0.072458	0.71538	D	0.439	0.74306	.	.	0.742228756361	0.73991	0.8876072477835727	0.88729	0.47591324617	0.46746	0.500730097294	0.38930	T	0.321	0.69205	T	-0.0527041	0.44034	T	0.105966	0.77304	D	0.174262121319771	0.18865	T	0.967253	0.88939	D	0.6632286	0.76071	0.5563473	0.74339	0.6632286	0.76072	0.5563473	0.74340	-10.906	0.79140	D	0.6609716982728082	0.73445	0.602	0.70994	P	.;.;.;.	.;.;.;.	4.749043	0.76661	26.6	0.99885943331872762	0.96126	0.92648	0.56208	D	AEDBHCIJ	0.861428	0.77949	D	0.749329277470971	0.82862	7.868594	0.69277056459754	0.81830	7.619207	0.999999999981119	0.74766	0.732398	0.92422	0	0.588015	0.36545	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	5.16	5.16	0.70563	5.822000	0.68949	7.785000	0.68758	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:0.0:1.0	15.000	0.71123	934	0.15400	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.004028	0.000000	0.006793	0.000000	0.000000	0.000000	0.009146	0.000000	0.08333	1410.83	33	chr3	146110405	.	T	C	1410.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=3.07;DP=259;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=17;ReadPosRankSum=-0.881;SOR=0.781	GT:AD:DP:GQ:PL	0/1:35,48:83:99:1421,0,854	5	0	1	0
chr3	147396245	147396245	C	G	exonic	ZIC4	.	nonsynonymous SNV	ZIC4:NM_001168378:exon3:c.G445C:p.G149R,ZIC4:NM_001168379:exon3:c.G409C:p.G137R,ZIC4:NM_032153:exon3:c.G295C:p.G99R	.	134	1355	33	0	0	33	0.0120306	.	.	.	2113997	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.269	.	0.0059	0.00519169	0.0071	0.0017	0.0040	0.0001	0.0157	0.0087	0.0084	0.0065	0.0067787	1048	154602	rs34676558	0.0081	0.0081	0.0080	0.0082	0.0113	0.0080	0.0079	0.0091	0.0083	0.0014	0.0042	0.0109	0	0.0149	0.0113	0.0085	0.0077	0.0068	0.0067	0.0067	0.0066	0.0069	0.0093	0.0064	0.0063	0.0087	0.0085	0.0020	0	0.0048	0.0112	0	0.0142	0	0.0093	0.0061	0.0070	0.007	0.78490	D	0.184	0.37872	T	0.994	0.66517	D	0.923	0.65830	D	0.000258	0.46924	D	0.000000	.	.	.	2.28	0.64929	M	0.97	0.42502	T	-3.96	0.74661	D	0.707	0.76203	-0.8022	0.55015	T	0.147	0.47129	T	10	0.0103960335	0.00232	T	.	.	.	0.269	0.58381	0.628	0.76366	0.799349794875	0.79747	0.6008591114934073	0.60016	1.56576822731	0.88110	0.708737492561	0.68410	T	0.577982	0.86135	D	-0.266311	0.12170	T	-0.145919	0.59604	T	0.0226727302625135	0.00985	T	0.967253	0.88140	D	0.3260748	0.55147	0.40053952	0.64588	0.3260748	0.55147	0.40053952	0.64588	-12.54	0.87381	D	.	.	0.627	0.70621	P	.;.;.;.;.;.	.;.;.;.;.;.	3.880911	0.56402	23.7	0.9988786241018941	0.96281	0.96824	0.71137	D	AEFDBHCI	0.809104	0.73270	D	0.604603678742957	0.73464	5.970528	0.573160142656645	0.73021	5.902948	0.999999943667802	0.74766	0.59774	0.34471	0	0.59043	0.45803	0	0.606814	0.37721	0	0.63947	0.58350	0	.	.	4.98	4.98	0.65679	3.034000	0.49441	2.192000	0.31216	0.599000	0.40250	1.000000	0.71638	0.800000	0.26941	0.990000	0.65344	0.1613:0.7572:0.0:0.0816	7.852	0.28624	921	0.19240	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.015609	0.025253	0.009511	0.023392	0.000000	0.008621	0.021341	0.003788	0.1667	2674.06	39	chr3	147396245	.	C	G	2674.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=2.9;DP=350;ExcessHet=0.4139;FS=7.449;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=14;ReadPosRankSum=0.889;SOR=1.209	GT:AD:DP:GQ:PL	0/1:58,46:104:99:1156,0,1287	4	0	2	0
chr3	155853645	155853645	G	A	exonic	SLC33A1	.	nonsynonymous SNV	SLC33A1:NM_001190992:exon1:c.C353T:p.P118L,SLC33A1:NM_001363883:exon1:c.C353T:p.P118L,SLC33A1:NM_004733:exon1:c.C353T:p.P118L	Congenital cataracts, hearing loss, and neurodegeneration, Autosomal recessive;Spastic paraplegia 42, autosomal dominant, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	2825036	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.916	0.180330631785	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.048477	1	0.81001	D	4.29	0.98219	H	-1.41	0.80560	T	-9.7	0.98602	D	0.933	0.93841	0.779	0.94149	D	0.787	0.92761	D	10	0.9592407	0.95314	D	0.180331	0.85482	D	0.916	0.97814	0.831	0.94042	0.971361032142	0.97104	0.9490389787202539	0.94886	2.26454559714	0.96209	0.848731040955	0.89423	D	0.814515	0.95400	D	0.434457	0.91756	D	0.386291	0.91653	D	0.999908089637756	0.99629	D	0.999721	0.99933	D	0.9729656	0.98529	0.93255115	0.97270	0.9729656	0.98529	0.93255115	0.97270	-13.696	0.92027	D	0.9927983798285628	0.99830	0.978	0.91951	P	.;.;.;.	.;.;.;.	5.608546	0.92513	32	0.9991421996857478	0.98309	0.83916	0.43007	D	AEFDBCI	.	.	.	1.03282578913964	0.96667	14.98475	0.957979052715463	0.97636	16.478	1.0	0.98316	0.542737	0.22433	0	0.52208	0.09955	0	0.685571	0.62057	0	0.56214	0.19341	0	.	.	5.57	5.57	0.84021	7.744000	0.83944	11.860000	0.98299	0.675000	0.71128	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.0:0.0:1.0:0.0	19.982	0.97333	839	0.37672	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.25	406.71	101	chr3	155853645	.	G	A	406.71	.	AC=2;AF=0.25;AN=8;BaseQRankSum=-3.691;DP=499;ExcessHet=0.4139;FS=320.33;MLEAC=2;MLEAF=0.25;MQ=60;MQRankSum=0;QD=1.86;ReadPosRankSum=2.57;SOR=8.553	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:77,41:118:99:0|1:155853644_G_C:178,0,1936:155853644	2	0	2	2
chr3	184373566	184373566	T	C	exonic	THPO	.	nonsynonymous SNV	THPO:NM_000460:exon5:c.A245G:p.Q82R,THPO:NM_001177597:exon5:c.A245G:p.Q82R,THPO:NM_001177598:exon5:c.A245G:p.Q82R,THPO:NM_001289997:exon5:c.A245G:p.Q82R,THPO:NM_001290028:exon5:c.A245G:p.Q82R,THPO:NM_001289998:exon6:c.A245G:p.Q82R,THPO:NM_001290003:exon6:c.A665G:p.Q222R,THPO:NM_001290022:exon6:c.A245G:p.Q82R,THPO:NM_001290026:exon6:c.A245G:p.Q82R,THPO:NM_001290027:exon6:c.A245G:p.Q82R	Thrombocythemia 1, Autosomal dominant	.	.	.	.	.	.	.	.	.	YES	3747135	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.230	0.0204917984351	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1038963770	2.052e-06	2.052e-06	2.722e-06	1.375e-06	2.319e-05	5.5e-07	1.5e-07	3.85e-06	1.44e-06	0	0	0	0	0	0	0	1.656e-05	2.319e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.13	0.26740	T	0.0	0.92824	D	0.996	0.68779	D	0.994	0.82059	D	0.011396	0.29550	N	0.159467	0.621535	0.81001	D	2.015	0.55033	M	0.87	0.46412	T	-2.7	0.57599	D	0.304	0.34336	-0.9503	0.40920	T	0.136	0.45145	T	10	0.79611075	0.79085	D	0.020492	0.43095	T	0.230	0.53062	0.853	0.95376	0.727570700033	0.72515	0.4950103823960129	0.49422	0.362069930752	0.37861	0.507831692696	0.39919	T	0.279351	0.65203	T	-0.163696	0.26194	T	-0.376061	0.36182	T	0.753995656967163	0.43509	D	0.741926	0.36121	T	0.5855984	0.71913	0.5287169	0.72770	0.5855984	0.71914	0.5287169	0.72771	-3.319	0.13984	T	0.6183747465141616	0.68652	0.115	0.24566	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	3.471242	0.48428	22.6	0.99783272448623628	0.86955	0.58846	0.30753	D	AEFDGBCI	0.358444	0.44912	N	0.16101229853096	0.49335	3.135028	0.217168036540244	0.50800	3.268277	0.999999984682268	0.74766	0.623552	0.39893	0	0.563428	0.19063	0	0.667671	0.60360	0	0.530356	0.10902	0	.	.	4.92	4.92	0.64147	1.694000	0.37371	5.025000	0.46778	0.607000	0.46521	1.000000	0.71638	1.000000	0.68203	0.988000	0.63387	0.0:0.0:0.0:1.0	10.980	0.46702	881	0.29269	.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1462.83	38	chr3	184373566	.	T	C	1462.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.439;DP=328;ExcessHet=0;FS=1.449;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.43;ReadPosRankSum=0.558;SOR=0.903	GT:AD:DP:GQ:PL	0/1:64,64:128:99:1473,0,1639	5	0	1	0
chr3	185192984	185192984	C	T	exonic	EHHADH	.	nonsynonymous SNV	EHHADH:NM_001166415:exon7:c.G1126A:p.V376I,EHHADH:NM_001966:exon7:c.G1414A:p.V472I	.	.	.	.	.	.	.	.	.	.	.	584826	not_specified|EHHADH-related_disorder|not_provided	MedGen:CN169374|.|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.339	0.0117326521973	0.0002	0.000199681	0.0001	9.625e-05	0	0.0001	0	7.493e-05	0	0.0004	0.0001035	16	154602	rs138187022	0.0002	0.0002	0.0002	0.0002	0.0012	0.0002	0.0002	0.0009	0.0008	0.0006	0	0	0.0012	1.872e-05	0.0005	0.0001	6.623e-05	0.0003	0.0002	0.0002	0.0002	0.0002	0.0004	0.0001	0.0001	0.0002	0.0002	0.0003	0	6.538e-05	0	0.0004	0	0	0.0001	0	0	0.009	0.57480	D	0.087	0.40747	T	0.991	0.64070	D	0.696	0.54017	P	0.000003	0.62929	D	0.060524	0.987856	0.40661	D	1.625	0.41611	L	-1.16	0.78082	T	-0.08	0.08187	N	0.232	0.29544	-0.0709	0.80760	T	0.477	0.79971	T	10	0.15416059	0.29085	T	0.011733	0.29644	T	0.339	0.66106	.	.	0.45349784317	0.44971	0.4450167487452453	0.44419	0.353594807961	0.37155	0.401955962181	0.25341	T	0.200003	0.55745	T	-0.227924	0.16923	T	-0.207689	0.53915	T	0.0367794597645217	0.03118	T	0.964304	0.86758	D	0.103788204	0.24531	0.09484508	0.22467	0.103788204	0.24531	0.09484508	0.22466	-6.62	0.53807	T	0.4061130640625613	0.49718	0.119	0.24599	B	.;.	.;.	3.555306	0.49998	22.9	0.99780814250822381	0.86780	0.95065	0.63310	D	AEFBI	0.661896	0.63195	D	0.557239246128965	0.70522	5.514159	0.582698630936299	0.73698	6.013556	0.999454180936676	0.39788	0.638212	0.43195	0	0.670034	0.63936	0	0.658983	0.55881	0	0.620846	0.47308	0	.	.	5.91	5.91	0.95240	2.851000	0.48001	5.773000	0.49755	0.599000	0.40250	0.989000	0.36753	1.000000	0.68203	0.855000	0.40485	0.0:0.8643:0.1357:0.0	15.742	0.77670	670	0.60992	3-hydroxyacyl-CoA dehydrogenase, NAD binding;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	2189.83	33	chr3	185192984	.	C	T	2189.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=4.62;DP=421;ExcessHet=0;FS=0.577;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.35;ReadPosRankSum=-0.56;SOR=0.761	GT:AD:DP:GQ:PL	0/1:85,79:164:99:2200,0,2035	5	0	1	0
chr3	194397564	194397564	C	T	exonic	GP5	.	nonsynonymous SNV	GP5:NM_004488:exon2:c.G719A:p.R240Q	.	.	.	.	.	.	.	.	.	.	.	2351821	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.019	0.0116028375857	7.7e-05	.	9.988e-05	0	0	0	0	0.0002	0	6.057e-05	0.0001035	16	154602	rs145481862	0.0001	0.0001	0.0001	0.0001	0.0002	0.0001	0.0001	0.0001	0.0001	0	0	0	0	5.617e-05	0.0002	0.0001	9.934e-05	0.0001	9.864e-05	9.852e-05	6.427e-05	0.0001	0.0006	6.011e-05	4.884e-05	0.0002	9.033e-05	0	0	6.547e-05	0	0	0	0	0.0001	0.0005	0.0006	0.111	0.29029	T	0.561	0.09083	T	0.119	0.26641	B	0.015	0.17295	B	0.168238	0.03090	N	1.955270	1	0.08975	N	0.285	0.10073	N	0.45	0.56446	T	-0.19	0.09965	N	0.019	0.00279	-1.0092	0.27167	T	0.084	0.32900	T	10	0.07880819	0.12605	T	0.011603	0.29387	T	0.019	0.03383	.	.	0.1749357433	0.17121	0.21771615766214986	0.21687	.	.	0.196921691298	0.00373	T	0.066112	0.32863	T	-0.537905	0.00345	T	-0.716952	0.04944	T	0.024039405065951	0.01150	T	0.423358	0.11306	T	0.017463181	0.00275	0.042869482	0.05203	0.017463181	0.00275	0.042869482	0.05203	-4.105	0.25364	T	.	.	0.079	0.07507	B	.	.	-1.250417	0.00482	0.010	0.93925280299957536	0.23970	0.01755	0.05524	N	AEFDBI	0.078871	0.15921	N	-1.5101440957934	0.01782	0.07809959	-1.58966240113395	0.01718	0.07809019	0.999998518561902	0.74766	0.764865	0.99124	0	0.628146	0.54582	0	0.666236	0.60216	0	0.603991	0.37454	0	.	.	4.33	-4.18	0.03584	-5.166000	0.00171	-7.441000	0.01156	-1.032000	0.01689	0.000000	0.06391	0.000000	0.08366	0.017000	0.10941	0.0:0.217:0.2464:0.5365	8.666	0.33285	784	0.47045	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	1679.83	55	chr3	194397564	.	C	T	1679.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.09;DP=343;ExcessHet=0;FS=4.507;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.36;ReadPosRankSum=0.475;SOR=0.447	GT:AD:DP:GQ:PL	0/1:56,61:117:99:1690,0,1335	5	0	1	0
chr3	195778964	195778964	C	0	exonic	MUC4	.	.	.	.	456	799	118	0	149	267	0.0687646	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	480.27	395	chr3	195778964	.	C	*	480.27	.	AC=2;AF=0.167;AN=12;BaseQRankSum=2.02;DP=1742;ExcessHet=1.383;FS=0.714;MLEAC=2;MLEAF=0.167;MQ=56.73;MQRankSum=-3.027;QD=0.36;ReadPosRankSum=-3.167;SOR=0.776	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:403,114:517:99:0|1:195778917_G_C:2625,0,15532:195778917	4	0	2	0
chr3	195778967	195778967	G	0	exonic	MUC4	.	.	.	.	444	848	112	0	118	230	0.0619469	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	346.27	398	chr3	195778967	.	G	*	346.27	.	AC=2;AF=0.167;AN=12;BaseQRankSum=1.67;DP=1745;ExcessHet=1.383;FS=0.714;MLEAC=2;MLEAF=0.167;MQ=56.67;MQRankSum=-3.453;QD=0.26;ReadPosRankSum=-3.161;SOR=0.785	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:403,114:517:99:0|1:195778917_G_C:2625,0,15532:195778917	4	0	2	0
chr3	195780095	195780095	C	T	exonic	MUC4	.	nonsynonymous SNV	MUC4:NM_018406:exon2:c.G11485A:p.D3829N,MUC4:NM_001322468:exon15:c.G10045A:p.D3349N	.	511	588	3	0	420	423	0.00254453	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.036	.	.	0.0155751	0.0002	0	0	0	0	0.0003	0	0.0003	0.0005369	83	154602	rs1173910146	0.0020	0.0033	0.0020	0.0020	0.0394	0.0019	0.0019	0.0350	0.0333	0.0018	0.0018	0.0118	0.0394	0.0032	0.0022	0.0014	0.0036	0.0022	0.0010	0.0055	0.0009	0.0011	0.0039	0.0007	0.0007	0.0015	0.0010	0.0013	0	0.0009	0	0.0012	0.0021	0	0.0006	0.0024	0.0039	0.026	0.47320	D	0.21	0.26883	T	.	.	.	.	.	.	.	.	.	.	0.990967	0.41276	D	.	.	.	1.51	0.31987	T	-0.12	0.11547	N	0.068	0.04072	-1.0144	0.25529	T	0.031	0.13418	T	7	0.004147202	0.00082	T	.	.	.	0.036	0.09122	.	.	0.0138822411134	0.00435	5.697214667815245E-4	0.00051	.	.	0.524782061577	0.42300	T	.	.	.	-0.351734	0.04618	T	-0.743018	0.03765	T	0.00236744835235249	0.00024	T	0.709529	0.32034	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.118	0.24123	B	.;.	.;.	1.461153	0.18836	13.95	0.86985028898371375	0.16908	0.00129	0.00800	N	AEFBI	0.039885	0.05856	N	-1.24603621511788	0.04352	0.1962529	-1.36546139236397	0.03627	0.1695683	2.2643471635804E-5	0.03498	0.615465	0.37627	0	0.547309	0.14657	0	0.658983	0.55881	0	0.613276	0.41899	0	.	.	.	.	.	1.135000	0.31067	-3.711000	0.02588	0.084000	0.17577	0.016000	0.19238	0.000000	0.08366	0.005000	0.06747	2.0E-4:0.5013:0.4982:2.0E-4	3.599	0.07562	601	0.67921	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.136743	0.246154	0.141026	0.145833	0.000000	0.083333	0.122093	0.072581	0.1	716.96	261	chr3	195780095	.	C	T	716.96	.	AC=1;AF=0.1;AN=10;DP=1308;ExcessHet=0.5115;FS=0.66;MLEAC=1;MLEAF=0.1;MQ=56.28;QD=1.45;SOR=0.78	GT:AD:DP:GQ:PL	0/1:188,46:234:99:726,0,7723	4	0	1	1
chr3	195781628	195781628	C	0	exonic	MUC4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	22851.7	348	chr3	195781628	.	C	*	22851.7	.	AC=3;AF=0.25;AN=12;BaseQRankSum=2.53;DP=1844;ExcessHet=0.1336;FS=0;MLEAC=3;MLEAF=0.25;MQ=57.05;MQRankSum=-0.65;QD=14.91;ReadPosRankSum=0.437;SOR=0.609	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:190,120:361:99:1|0:195781570_GCTGAGGAAGGGCTGGTGACATGAAGAGGGGTGGCGTGACCTGTGGATGCTGAGGAAGCGTCGGTGACAAGAAGAGGAGTGGCGTGACCTGTGGATA_G:4672,0,7144:195781570	3	0	3	0
chr3	195782558	195782558	A	0	exonic	MUC4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	1662.49	263	chr3	195782558	.	A	*	1662.49	.	AC=3;AF=0.25;AN=12;BaseQRankSum=1.37;DP=1656;ExcessHet=0.1336;FS=0;MLEAC=3;MLEAF=0.25;MQ=55.11;MQRankSum=-5.684;QD=1.7;ReadPosRankSum=2.21;SOR=0.663	GT:AD:DP:GQ:PL	0/1:171,128:445:99:5264,0,7746	3	0	3	0
chr3	195783068	195783068	G	0	exonic	MUC4	.	.	.	.	442	900	103	29	48	209	0.082101	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	4719.08	465	chr3	195783068	.	G	*	4719.08	.	AC=2;AF=0.25;AN=8;BaseQRankSum=1.73;DP=1594;ExcessHet=0.2119;FS=5.987;MLEAC=2;MLEAF=0.25;MQ=44.17;MQRankSum=-0.606;QD=5.33;ReadPosRankSum=1.57;SOR=0.939	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:285,47:332:99:0|1:195783015_G_C:1609,0,11734:195783015	2	0	2	2
chr3	195783070	195783070	A	0	exonic	MUC4	.	.	.	.	2	173	30	8	13	59	0.117347	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	4719.08	342	chr3	195783070	.	A	*	4719.08	.	AC=2;AF=0.25;AN=8;BaseQRankSum=-1.428;DP=1389;ExcessHet=0.2119;FS=4.902;MLEAC=2;MLEAF=0.25;MQ=53.48;MQRankSum=-0.606;QD=6.03;ReadPosRankSum=-0.244;SOR=0.888	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:285,47:332:99:0|1:195783015_G_C:1609,0,11734:195783015	2	0	2	2
chr3	195784007	195784007	C	A	exonic	MUC4	.	nonsynonymous SNV	MUC4:NM_018406:exon2:c.G7573T:p.D2525Y,MUC4:NM_001322468:exon7:c.G7525T:p.D2509Y	.	415	1096	9	0	2	11	0.00408905	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.012	0.00516102249211	.	.	0.0043	0.0034	0.0021	0	0	0.0068	0.0038	0.0028	0.0009056	140	154602	rs387559	0.0044	0.0050	0.0044	0.0044	0.0050	0.0043	0.0043	0.0049	0.0049	0.0010	0.0021	0.0055	0	0.0006	0.0048	0.0050	0.0040	0.0019	0.0061	0.0060	0.0062	0.0059	0.0097	0.0056	0.0054	0.0088	0.0085	0.0019	0.0117	0.0049	0.0129	0	0.0003	0.0071	0.0097	0.0038	0.0050	0.015	0.52492	D	0.035	0.52727	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.43	0.34452	T	-0.22	0.11008	N	0.138	0.13911	-1.0218	0.23129	T	0.041	0.17657	T	7	0.005071461	0.00110	T	0.005161	0.13125	T	0.012	0.01476	.	.	0.0884992946249	0.08302	4.3880024213885317E-4	0.00039	.	.	0.5548787117	0.46545	T	.	.	.	-0.308393	0.07891	T	-0.680762	0.06937	T	0.00367973852416161	0.00039	T	0.877812	0.59215	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.214	0.44345	B	.;.	.;.	1.960027	0.24899	16.57	0.78850073219890093	0.12480	0.00207	0.01180	N	AEFBCI	0.032984	0.03829	N	-1.44003932090389	0.02296	0.1012303	-1.56808164265488	0.01854	0.08450574	3.31428487897563E-5	0.03775	0.554377	0.28877	0	0.657636	0.61667	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	.	.	.	-1.793000	0.01851	-5.710000	0.01622	0.055000	0.17525	0.000000	0.06391	0.000000	0.08366	0.086000	0.17578	0.2464:0.2841:0.4695:0.0	2.999	0.05642	601	0.67921	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.004648	0.017647	0.003663	0.000000	0.000000	0.000000	0.007194	0.000000	0.08333	2993.83	613	chr3	195784007	.	C	A	2993.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.404;DP=1992;ExcessHet=0;FS=2.623;MLEAC=1;MLEAF=0.083;MQ=59.04;MQRankSum=0.456;QD=6.58;ReadPosRankSum=1;SOR=0.919	GT:AD:DP:GQ:PL	0/1:305,150:455:99:3004,0,8096	5	0	1	0
chr3	195784041	195784041	-	GGTGTGACCTGTGGATACTGAGGAAGCATCGGTGACATGA	exonic	MUC4	.	frameshift insertion	MUC4:NM_018406:exon2:c.7538_7539insTCATGTCACCGATGCTTCCTCAGTATCCACAGGTCACACC:p.P2514Hfs*25,MUC4:NM_001322468:exon7:c.7490_7491insTCATGTCACCGATGCTTCCTCAGTATCCACAGGTCACACC:p.A2498Hfs*50	.	420	1073	7	0	22	29	0.00325128	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1256446582	5.133e-05	0.0009	5.072e-05	5.194e-05	0.0001	4.02e-05	3.601e-05	3.966e-05	3.524e-05	4.372e-05	0	0.0002	0.0001	0	0	5.265e-05	9.338e-05	0	0.0003	0.0024	0.0002	0.0003	0.0003	0.0002	0.0001	0.0001	0.0001	0.0002	0	0.0002	0	0	0.0007	0	0.0003	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	1395.65	659	chr3	195784041	.	T	TGGTGTGACCTGTGGATACTGAGGAAGCATCGGTGACATGA	1395.65	.	AC=1;AF=0.1;AN=10;BaseQRankSum=1.63;DP=2146;ExcessHet=0;FS=2.661;MLEAC=1;MLEAF=0.1;MQ=58.75;MQRankSum=-8.725;QD=2.81;ReadPosRankSum=-10.36;SOR=0.975	GT:AD:DP:GQ:PL	0/1:427,70:501:99:1405,0,19209	4	0	1	1
chr3	195784081	195784081	G	C	exonic	MUC4	.	nonsynonymous SNV	MUC4:NM_018406:exon2:c.C7499G:p.T2500S,MUC4:NM_001322468:exon7:c.C7451G:p.T2484S	.	411	1104	4	1	2	8	0.00271003	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.019	0.00754800449239	.	0.000399361	0.0002	0.0004	0	0	0	0.0003	0	0	3.88e-05	6	154602	rs531196753	0.0001	0.0002	0.0001	0.0002	0.0007	0.0001	0.0001	0.0002	9.878e-05	7.114e-05	2.844e-05	0.0027	0	0	0.0007	8.034e-05	0.0003	0.0001	0.0001	0.0002	0.0002	0.0001	0.0001	9.552e-05	7.961e-05	6.812e-05	5.094e-05	0	0	6.609e-05	0.0032	0	0	0	0.0001	0	0	0.198	0.33091	T	1.0	0.01155	T	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	1.3	0.35590	T	-0.25	0.11008	N	0.049	0.02088	-1.0199	0.23747	T	0.045	0.19397	T	7	0.0077854693	0.00177	T	0.007548	0.20033	T	0.019	0.03383	0.121	0.02793	0.0138822411134	0.00435	1.184308963844507E-5	0.00001	.	.	0.513383388519	0.40695	T	.	.	.	-0.277227	0.10964	T	-0.635994	0.09963	T	0.014570536452003	0.00299	T	0.763224	0.38939	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.150	0.33179	B	.;.	.;.	0.596820	0.09652	6.425	0.60475253937085882	0.06472	0.12666	0.17407	N	AEFBHCI	0.128785	0.24669	N	-1.00858928855411	0.08424	0.394969	-1.07191762672318	0.08257	0.4051598	1.61870465292538E-5	0.02871	0.615465	0.37627	0	0.657636	0.61667	0	0.658983	0.55881	0	0.613276	0.41899	0	.	.	.	.	.	-2.641000	0.00937	-3.867000	0.02485	0.061000	0.17545	0.000000	0.06391	0.000000	0.08366	0.011000	0.09372	0.0:0.0:0.6087:0.3913	4.270	0.10228	601	0.67921	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	3273.83	668	chr3	195784081	.	G	C	3273.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.01;DP=2146;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=59.07;MQRankSum=3.38;QD=6.53;ReadPosRankSum=-1.433;SOR=0.73	GT:AD:DP:GQ:PL	0/1:353,148:501:99:3284,0,10828	5	0	1	0
chr3	195785726	195785726	-	GGTGGTGTGACCTAAGGATGCTGAGGAAGGGATGGTGACAGGAAGAGAGGTGGCGTGACCTGTGGACACTGAGGAAGCGTCGGTGACAGGAAGAGA	exonic	MUC4	.	nonframeshift insertion	MUC4:NM_018406:exon2:c.5853_5854insTCTCTTCCTGTCACCGACGCTTCCTCAGTGTCCACAGGTCACGCCACCTCTCTTCCTGTCACCATCCCTTCCTCAGCATCCTTAGGTCACACCACC:p.T1951_P1952insSLPVTDASSVSTGHATSLPVTIPSSASLGHTT,MUC4:NM_001322468:exon6:c.5853_5854insTCTCTTCCTGTCACCGACGCTTCCTCAGTGTCCACAGGTCACGCCACCTCTCTTCCTGTCACCATCCCTTCCTCAGCATCCTTAGGTCACACCACC:p.S1953_A4615delinsLPVTDASSVSTGHATSLPVTIPSSASLGHTTSSASTGHATSLPVTDTSSVSTGHATPLHVTSPSSASTGDTTPLPVTDTYSASTGQATPLPVTDTSSASTGDTTPLPVTDTSSASTGHATPLPVTNTSSVSTGHATPLHVTSPSSASTGHTTPLPVTDASSVSTGHATSLPVTDASSVFTGHATSLPVTIPSSASSGHTTPLPVTDASSVSTGHATSLPVTDASSVSTGHATPLPVTDASSVSTGHATPLPVTDTSSVSTGHATPLPLTSLSSVSTGDTTPLPVTDTSSASTGQATPLPVTSLSSVSTGDTTPLPVTDTSSASTGHATSLPVTDTSSASTGHATPLPDTDTSSASTGHATPLPVTDTSSASTGHATLLPVTDTSSASIGHATPLPVTDTSSISTGHATPLHVTSPSSASTGHATPLPVTDTSSASTGHANPLHVTSPSSASTGHATPLPVTDTSSASTGHATPLPVTSLSSVSTGDTTPLPVTSPSSASTGHTTPLPVTDTSSASTGQATALPVTSTSSASTGDTTPLPVTDTSSASTGQATPLPVTSLSSVSTGDTTPLPVTSPSSASTGHATPLLVTDASSASTGQATPLPVTDTSSAYTGDTTSLPVTDTSSSSTGDTTPLLVTETSSASTGHATPLHVTSPSSASTGDTTPVPVTDTSSVSTGHATPLPVTGLSSASTGDTTRLPVTDISSASTGQATPLPVTNTSSASTGHATPLPVTGLSSASTGDTTRLPVTDISSASTGQATPLPVTNTSSVSTGDTMPLPVTSPSSASTGHATPLPVTSTSSASTGHATPVPVTSTSSASTGHTTPLPVTDTSSASTGDTTPLPVTSPSSASTGHTTPLHVTIPSSASTGDTSTLPVTGASSASTGHATPLPVTDTSSVSTGHATPLPVTSFSSVSTGDTTPLPVTDTSSVSTGHATPLPVTSFSSVSTGDTTPLPVTDASSASTGHATPLPVTDTSSVSTGHATPLPLTSLSSVSTGDTTTLPVTDTSSVSTGHATPLPVTSFSSVSTGDTTPLPVTDASSASTGHATPLPVTDTSSVSTGHATPLPVTSLSSVSTGDTTPLPVTDASSASTGQATPLPVTSLSSVSTGDTTPLPVTIPSSASSGHTTSLPVTDTSSASTGQATPLPVTSLSSVSTGDTTPLLVTDASSVSTGHATPLPVTDTSSASTGDTTRLPVTDTSSASTGQATPLPVTSLSSVSTGDTTPLLVTNTSSVSRGHATSLPVTIPSSSSSGHTTPLPVTSTSSVSTGHVTPLPVTSTSSASTGHATSLPVTDTSSVSTGHATSLPVTDTSSVSTGHATPLPVTDASSVSTGHATPLPVTDASSASTGDTTPLPVTNTSSASTGQATPLPVTSLSSVSTGDTMPLPVTSPSSASTGHATPLPVTGLSSASTGDTTPLPVTDTSSASTGHVTPLPVTSLSSASTGDSTPLPVTDTSSASTGHVTPLPVTSLSSASTGDTTPLPVTDTSSASTGHATPLHVTDASSASTGQATLLPVTSLSSVSTGDTTPLPVTSPSSASTGHATPLLVTDTSSASTGHATPLPVTDASSVSTGHATSLPVTIRSSGSTGHTTPLPVTDTSSASTGQATSLLVTDTSSVSTGDTTPLPVTSTSSASTGHVTPLHVTSPSSASTGHATPLPVTSLSSASTGDTMPLPVTSPSSASTGDTTPLPVTDASSVSTGHTTPLPVTSPSSASTGHTTPLPVTDTTSASKGDTTPLPVTSPSSASTGHTTPLPVTDTSSASTGDTTPLPVTSPSSASTGHATPLPVTNASSLSTGHATPLHVTSPSSASTGHATPLPVTSTSSASTGHATSLPVTSTSSASTGHATPLPVTDNSSVSTGHATPLPVTGLSSATTDDTTRLPVTDVSSASTGQATPLPVTSLSSVSTGDTTPLPVTSPSSASTGHASPLLVTDASSASTGQATPLPVTDTSSVSTAHATPLPVTGLSSASTDDTTRLPVTDVSSASTGQAIPLPVTSPSSASTGDTTPLPVTDASSASTGDTTSLPVTIPSSASSGHTTSLPVTDASSVSTGHATSLLVTDASSVSTGDTTPLPVTDTNSASTGDTTPLHVTDASSVSTGHATSLPVTSLSSASTGDTTPLPVTSPSSASSGDTTPLPVTDTSSASTGHATHLPVTGLSSASTGDTTRLPVTNVSSASTGHATPLPVTSTSSASTGDTTPLPGTDTSSVSTGHTTPLLVTDASSVSTGDTTRLPVTSPSSASTGHTTPLHVTDASSVSTGHTTPLPVTDTSSASTGQATSLLVTDTSSVSTGDTTPLPVTSTSSASTGHVTPLHVTSPSSASTGHATPLPVTSLSSASTGDTTPLPVTDTSSVSTGHTTPLPVTSPSSASTGHTTPLPVTDTSSASKGDTTPLPVTSPSSASTGHTTPLPVTDTSSASTGDTTPLPVTNASSLSTGHATPLHVTSPSSASTGHATPLPVTSTSSASTGHATPLPVTSTSSASTGHATPLPVTDNSSVSTGHATPLPVTGLSSATTDDTTRLPVTDVSSASTGQATPLPVTSLSSVSTGDTTPLPVTSPSSASTGHASPLLVTDASSASTGQATPLPVTDTSSVSTAHATPLPVTGLSSASTDDTTRLPVTDVSSASTGQAIPLPVTSPSSASTGDTTPLPVTDASSASTGDTTSLPVTIPSSASSGHTTSLPVTDASSVSTGHATSLLVTDASSVSTGDTTPLPVTDTNSASTGDTTPLHVTDASSVSTGHATSLPVTSLSSASTGDTTPLPVTSPSSASSGHTTSLPVTDASSVSTGHATSLPVTIPSSASSGHTTPLPVTDASSVPTGHATSLPVTDASSVSTGHATPLPVTDASSVSTGHATPLPVTDTSSVSTGQATPLPVTSLSSASSTGDTTPLPVTDTSSASTGQDTPLPVTSLFSVSTGDTTPLPVTSPSSASTGHATHLLVTDASSVSTGHATSLLVTDASSVSTGHATALHVTDASSLSTGDTTPLPVTSPSSASTGDTTPLPVTDTSSVSTGHATSLPVTDTSSASTGHATSLPVTDTSSASTGQATPLPVTSPSSASTGHAIPLLVTDTSSASTGQATPLPVTSLSSASTGDTTPLPVTDASSVSTGHATSLPVTSLSSVSTGDTTPLPVTSPSSASTGHATPLHVTSPSSASTGHATPLPVTSLSSASTGDTTPLPVTSPSSASTGHATPLHVTDASSVSTGDTTPLPVTSPSSASSGHTTPLPVTDASSASTGDTTPLPVTDTSSASTGHATHLPVTGLSSASTGDTTRLPVTDVSSASTGHATPLPVTSTSSASTGDTTPLPGTDTSSVSTGHTTPLLVTDASSVSTGDTTRLPVTSPSSASTGHTTPLPVTDTPSASTGDTTPLPVTNASSLSTRHATSLHVTSPSSASTGHATPLPVTDTSAASTGHATPLPVTSTSSASTGDTTPLPVTDTSSASTGHATPLPVTNTSSVSTGHATPLHVTSPSSASTGHTTPLPVTDASSVSTGHATSLPVTDASSVSTGHATPLPVTDASSVSTGHATPLPLTSLSSVSTGDTTPLPVTDTSSASTGQATPLPVTSLSSVSTGDTTPLPVTDTSSASTGHATSLPVTDTSSASTGHATPLPVTDTSSISTGHATPLHVTSPSSASTGHATPLPVTDTSSASTGHATPLPVTSLSSVSTGDTTPLPVTSPSSASTGHATPLLVTDASSASTGQATPLPVTSLSSVSTGDTTPLPVTSPSSASTGHATSLPVTDTSSASTGDTTSLPVTDTSSAYTGDTTSLPVTDTSSSSTGDTTPLLVTETSSASTGDTTPVPVTDTSSVSTGHATPLPVTGLSSASTGDTTRLPVTDISSASTGQATPLPVTNTSSVSTGDTMPLPVTSPSSASTGHATPLPVTSTSSASTGHATPVPVTSTSLASTGHTTPLPVTSPSSASTGHTTPLPVTDTSSASTGDTTPLPVTNASSLSTGHTTPLHVTIPSSASTGDTSTLPVTGASSASTGHATPLPVTDTSSVSTGHATPLPVTSFSSVSTGDTTPLPVTDASSASTGHATPLPVTDTSSASTGDTTPLPVTDASSASTGQATPLPVTSLSSVSTGDTTPLPVTIPSSASSGHTTSLPVSDTSSASTGQATPLPVTSLSSVSTGDTTPLLVTDASSVSTGHATPLPVTDTSSASTGDTTRLPVTDTSSASTGQATPLPVTSLSSVSTGDTTPLLVTNTSSVSTGHATSLPVTIPSSSSSGHTTPLPVTSTSSVSTGHVTPLHVTSPSSSSTGQATPLPVTSTSSVSTGHVTPLHVTSPSSASTGHATPLPVTSTSSASTGHATPLPVTDASSVSTGHATPLPVTDTSSASTGDTTPLPVTDTSSASTGQATPLPVTSLSSVSTGHATPLAVSSATSASTVSSDSPLKMETSGMTTPSLKTDGGRRTATSPPPTTSQTIISTIPSTAMHTRSTAAPIPILPERGVSLFPYGADAGDLEFVRRTVDFTSPLFKPATGFPLGSSLRDSLYFTDNGQIIFPESDYQIFSYPNPLPTGFTGRDPVALVAPFWDDADFSTGRGTTFYQEYETFYGEHSLLVQQAESWIRKMTNNGGYKARWALKVTWVNAHAYPAQWTLGSNTYQAILSTDGSRSYALFLYQSGGMQWDVAQRSGNPVLMGFSSGDGYFENSPLMSQPVWERYRPDRFLNSNSGLQGLQFYRLHREERPNYRLECLQWLKSQPRWPSWGWNQVSCPCSWQQGRRDLRFQPVSIGRWGLGSRQLCSFTSWRGGVCCSYGPWGEFREGWHVQRPWQLAQELEPQSWCCRWNDKPYLCALYQQRRPHVGCATYRPPQPAWMFGDPHITTLDGVSYTFNGLGDFLLVGAQDGNSSFLLQGRTAQTGSAQATNFIAFAAQYRSSSLGPVTVQWLLEPHDAIRVLLDNQTVTFQPDHEDGGGQETFNATGVLLSRNGSEVSASFDGWATVSVIALSNILHASASLPPEYQNRTEGLLGVWNNNPEDDFRMPNGSTIPPGSPEEMLFHFGMTWQINGTGLLGKRNDQLPSNFTPVFYSQLQKNSSWAEHLISNCDGDSSCIYDTLALRNASIGLHTREVSKNYEQANATLNQYPPSINGGRVIEAYKGQTTLIQYTSNAEDANFTLRDSCTDLELFENGTLLWTPKSLEPFTLEILARSAKIGLASALQPRTVVCHCNAESQCLYNQTSRVGNSSLEVAGCKCDGGTFGRYCEGSEDACEEPCFPSVHCVPGKGCEACPPNLTGDGRHCAALGSSFLCQNQSCPVNYCYNQGHCYISQTLGCQPMCTCPPAFTDSRCFLAGNNFSPTVNLELPLRVIQLLLSEEENASMAEVNASVAYRLGTLDMRAFLRNSQVERIDSAAPASGSPIQHWMVISEFQYRPRGPVIDFLNNQLLAAVVEAFLYHVPRRSEEPRNDVVFQPISGEDVRDVTALNVSTLKAYFRCDGYKGYDLVYSPQSGFTCVSPCSRGYCDHGGQCQHLPSGPRCSCVSFSIYTAWGEHCEHLSMKLDAFFGIFFGALGGLLLLGVGTFVVLRFWGCSGARFSYFLNSAEALP*	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.113e-06	5.821e-05	0	8.267e-06	5.417e-06	1.1e-06	3e-07	1.44e-06	4e-07	0	0	0	0	0	0	5.417e-06	0	0	1.642e-05	2.98e-05	0	3.324e-05	3.379e-05	0	0	.	.	0	0	0	0	0	0	0	3.379e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	5872.71	812	chr3	195785726	.	G	GGGTGGTGTGACCTAAGGATGCTGAGGAAGGGATGGTGACAGGAAGAGAGGTGGCGTGACCTGTGGACACTGAGGAAGCGTCGGTGACAGGAAGAGA	5872.71	.	AC=1;AF=0.1;AN=10;BaseQRankSum=0.943;DP=2828;ExcessHet=0.4139;FS=2.423;MLEAC=1;MLEAF=0.1;MQ=57.61;MQRankSum=-9.117;QD=7.14;ReadPosRankSum=-2.468;SOR=0.836	GT:AD:DP:GQ:PL	0/1:416,132:548:99:3412,0,14991	4	0	1	1
chr3	195785855	195785855	C	T	exonic	MUC4	.	nonsynonymous SNV	MUC4:NM_018406:exon2:c.G5725A:p.D1909N,MUC4:NM_001322468:exon6:c.G5725A:p.D1909N	.	408	1105	7	0	2	9	0.00315742	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.055	0.00134860183168	.	.	0.0041	0.0030	0.0019	0.0012	0	0.0063	0.0038	0.0029	0.0009444	146	154602	rs3103962	0.0022	0.0047	0.0022	0.0022	0.0042	0.0021	0.0021	0.0027	0.0023	0.0007	0.0012	0.0025	8.935e-05	0.0002	0.0042	0.0025	0.0021	0.0014	0.0019	0.0035	0.0020	0.0018	0.0030	0.0017	0.0016	0.0026	0.0025	0.0008	0.0011	0.0015	0.0023	0.0004	0.0002	0.0036	0.0030	0.0019	0.0017	0.1	0.30515	T	0.36	0.17064	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.36	0.34452	T	-0.33	0.12472	N	0.037	0.02366	-1.0345	0.19014	T	0.031	0.13461	T	8	0.0053756535	0.00118	T	0.001349	0.01936	T	0.055	0.15663	.	.	0.0138822411134	0.00435	3.717077622336155E-4	0.00034	.	.	0.584268033504	0.50686	T	.	.	.	-0.359028	0.04185	T	-0.753495	0.03352	T	0.00180360728884325	0.00018	T	0.712229	0.32360	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.129	0.27493	B	.;.	.;.	2.061221	0.26211	17.04	0.97409865315967703	0.33820	0.02871	0.07644	N	AEFDGBCI	0.055460	0.10173	N	-0.949747703426852	0.09699	0.4601384	-1.13421185370058	0.07055	0.3417515	5.15302862961625E-5	0.04171	0.554377	0.28877	0	0.546412	0.12157	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	1.13	-0.522	0.11332	0.646000	0.24486	-2.628000	0.03532	0.055000	0.17525	0.020000	0.19661	0.000000	0.08366	0.004000	0.06068	0.2848:0.4686:0.0:0.2466	2.296	0.03896	604	0.67577	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.003628	0.010417	0.001661	0.000000	0.000000	0.000000	0.006897	0.000000	0.08333	3016.83	569	chr3	195785855	.	C	T	3016.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.71;DP=2510;ExcessHet=0;FS=2.947;MLEAC=1;MLEAF=0.083;MQ=58.87;MQRankSum=-0.939;QD=4.37;ReadPosRankSum=-0.471;SOR=0.807	GT:AD:DP:GQ:PL	0/1:523,167:690:99:3027,0,13520	5	0	1	0
chr3	195787858	195787858	G	A	exonic	MUC4	.	nonsynonymous SNV	MUC4:NM_018406:exon2:c.C3722T:p.A1241V,MUC4:NM_001322468:exon4:c.C3722T:p.A1241V	.	754	726	24	4	14	46	0.0215633	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.057	0.00310099407166	.	.	0.0027	0.0060	0	0	0	0.0019	0	0.0043	2.59e-05	4	154602	rs200470030	0.0005	0.0029	0.0005	0.0004	0.0012	0.0004	0.0004	0.0005	0.0004	0.0006	0.0004	0.0005	0.0007	0.0004	0.0012	0.0004	0.0006	0.0004	0.0003	0.0014	0.0004	0.0002	0.0015	7.729e-05	4.082e-05	0.0003	0.0001	0	0	0.0015	0	0	0	0	0.0002	0	0	0.011	0.55530	D	0.075	0.42976	T	.	.	.	.	.	.	.	.	.	.	1	0.19694	N	.	.	.	1.56	0.29866	T	-0.13	0.08971	N	0.1	0.08227	-1.0627	0.11093	T	0.045	0.19152	T	7	0.004917234	0.00105	T	0.003101	0.06726	T	0.057	0.16321	0.128	0.03331	0.0138822411134	0.00435	5.679174612668311E-5	0.00004	.	.	0.449930310249	0.31934	T	.	.	.	-0.280489	0.10615	T	-0.64068	0.09619	T	0.0155058956420158	0.00350	T	0.634936	0.24909	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.098	0.16099	B	.;.	.;.	-0.403259	0.02200	0.219	0.97017531814541358	0.32010	0.00104	0.00666	N	AEFI	0.027497	0.02257	N	-1.45731490531687	0.02160	0.09506899	-1.67235334149452	0.01265	0.05701407	1.15719927465646E-5	0.02871	0.554377	0.28877	0	0.588066	0.40923	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	.	.	.	-1.222000	0.03074	-10.294000	0.00717	-1.958000	0.00478	0.001000	0.13787	0.000000	0.08366	0.003000	0.05239	0.2757:0.0:0.7243:0.0	5.179	0.14479	604	0.67577	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.025000	0.111111	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.08333	48.1	19	chr3	195787858	.	G	A	48.1	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.645;DP=84;ExcessHet=0.4139;FS=0;MLEAC=1;MLEAF=0.083;MQ=37.3;MQRankSum=0.712;QD=1.85;ReadPosRankSum=-0.524;SOR=0.593	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:5,2:7:58:0|1:195787858_G_A:58,0,178:195787858	5	0	1	0
chr3	196806643	196806643	C	T	exonic	PAK2	.	nonsynonymous SNV	PAK2:NM_002577:exon6:c.C533T:p.T178I	.	.	.	.	.	.	.	.	.	.	.	2266853	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.045	0.00661831038004	.	.	8.257e-06	0	0	0	0	1.502e-05	0	0	6.5e-06	1	154602	rs777079011	1.232e-05	1.231e-05	9.537e-06	1.514e-05	1.53e-05	7.7e-06	6.36e-06	9.32e-06	7.62e-06	0	0	0	0	0	0	1.53e-05	1.656e-05	0	6.571e-06	6.567e-06	0	1.345e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.211	0.19569	T	0.208	0.26883	T	0.008	0.14655	B	0.017	0.18140	B	0.000620	0.42945	D	0.265864	0.580908	0.31100	N	1.955	0.52871	M	-0.33	0.68329	T	-1.3	0.32590	N	0.206	0.22870	-0.7202	0.59453	T	0.206	0.56417	T	10	0.11467379	0.21583	T	0.006618	0.17472	T	0.045	0.12272	0.241	0.17371	0.529089648961	0.52556	0.12980837357665687	0.12905	0.813689088623	0.66843	0.372522711754	0.21193	T	0.203981	0.56262	T	-0.189754	0.22295	T	-0.379894	0.35736	T	0.40575510263443	0.29159	T	0.788921	0.42853	T	0.13661517	0.31663	0.088323615	0.20586	0.13661517	0.31663	0.088323615	0.20586	-5.161	0.38543	T	.	.	0.090	0.12560	B	.	.	3.674601	0.52266	23.2	0.99427856935034475	0.64130	0.96534	0.69620	D	AEFDGBI	0.446148	0.50233	N	0.000579522223717807	0.41880	2.513171	0.192499734662539	0.49434	3.146727	0.999999355711699	0.74766	0.744818	0.98587	0	0.724815	0.89359	0	0.732433	0.93434	0	0.714379	0.83352	0	.	.	5.69	5.69	0.88346	3.616000	0.53915	5.978000	0.52118	0.599000	0.40250	0.954000	0.33273	1.000000	0.68203	0.998000	0.85391	0.0:0.9278:0.0:0.0722	14.026	0.64105	643	0.63827	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1393.83	34	chr3	196806643	.	C	T	1393.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.405;DP=286;ExcessHet=0;FS=2.348;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.02;ReadPosRankSum=0.196;SOR=0.509	GT:AD:DP:GQ:PL	0/1:57,59:116:99:1404,0,1328	5	0	1	0
chr4	271406	271418	AAAAAGGCTTTGC	-	exonic	ZNF732	.	frameshift deletion	ZNF732:NM_001137608:exon4:c.1439_1451del:p.G480Dfs*6	.	400	1113	8	1	0	10	0.00447227	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0003	0.0001	0	0	0	9.753e-05	0	0.0015	.	.	.	rs781970318	0.0004	0.0004	0.0003	0.0005	0.0027	0.0004	0.0004	0.0024	0.0023	0.0001	0.0002	0.0030	2.557e-05	3.778e-05	0.0019	0.0002	0.0005	0.0027	0.0005	0.0005	0.0005	0.0004	0.0037	0.0004	0.0003	0.0024	0.0020	7.233e-05	0	0.0002	0.0035	0	0	0.0068	0.0005	0	0.0037	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	2169.01	37	chr4	271405	.	TAAAAAGGCTTTGC	T	2169.01	.	AC=2;AF=0.167;AN=12;DP=247;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.167;MQ=59.67;QD=32.49;SOR=0.73	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,53:53:99:1|1:271405_TAAAAAGGCTTTGC_T:2189,156,0:271405	5	1	0	0
chr4	271421	271575	CACTCTTCACATCTATAAGGTTTCTCTCCAGTATGAATTTTCTTATGTTTACTCAGGTATGCAGACCATCCAAAGGCTTTGCCACACTCTTCACATTTGTAAGGTTTCTCTCCAGTATGAATTATCTTATGTTTATTCAGGTCTGTGGACCATCC	-	exonic	ZNF732	.	frameshift deletion	ZNF732:NM_001137608:exon4:c.1282_1436del:p.G428Wfs*12	.	401	1112	8	1	0	10	0.00447628	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.681e-05	0	0	0	0	2.352e-05	0	0.0004	.	.	.	.	0.0004	0.0004	0.0003	0.0005	0.0027	0.0004	0.0004	0.0024	0.0023	0.0001	0.0002	0.0030	2.549e-05	3.774e-05	0.0017	0.0002	0.0005	0.0027	0.0004	0.0005	0.0004	0.0004	0.0033	0.0004	0.0003	0.0021	0.0017	7.221e-05	0	0.0002	0.0035	0	0	0.0068	0.0005	0	0.0033	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	2163.01	37	chr4	271420	.	ACACTCTTCACATCTATAAGGTTTCTCTCCAGTATGAATTTTCTTATGTTTACTCAGGTATGCAGACCATCCAAAGGCTTTGCCACACTCTTCACATTTGTAAGGTTTCTCTCCAGTATGAATTATCTTATGTTTATTCAGGTCTGTGGACCATCC	A	2163.01	.	AC=2;AF=0.167;AN=12;DP=245;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.167;MQ=59.66;QD=24.85;SOR=0.732	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,51:51:99:1|1:271405_TAAAAAGGCTTTGC_T:2183,153,0:271405	5	1	0	0
chr4	883327	883327	C	A	exonic	GAK	.	nonsynonymous SNV	GAK:NM_001318134:exon10:c.G1155T:p.R385S,GAK:NM_005255:exon13:c.G1392T:p.R464S	.	.	.	.	.	.	.	.	.	.	.	2356230	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.477	0.413048852797	0.0002	.	0.0003	0.0002	0.0003	0	0	0.0003	0	0.0003	0.0002005	31	154602	rs144499981	0.0002	0.0002	0.0001	0.0002	0.0004	0.0002	0.0001	0.0003	0.0003	0.0002	0.0004	0.0038	0.0002	0	0	6.295e-05	0.0003	0.0004	0.0002	0.0002	0.0002	0.0001	0.0006	0.0001	8.71e-05	0.0002	8.992e-05	0.0001	0	0	0.0032	0	0	0	5.879e-05	0	0.0006	0.017	0.58626	D	0.016	0.63109	D	0.474	0.36620	P	0.271	0.39904	B	0.000120	0.50451	D	0.169845	0.99641	0.44237	D	1.32	0.33002	L	-5.09	0.98684	D	-3.15	0.64132	D	0.417	0.45709	0.743	0.93710	D	0.860	0.95342	D	10	0.038375884	0.02252	T	0.413049	0.93638	D	0.477	0.76881	.	.	0.674739086745	0.67198	0.672210641853319	0.67159	0.263747075775	0.28933	0.357754290104	0.19058	T	0.378168	0.74120	T	-0.102432	0.36020	T	-0.0743942	0.65311	T	0.0741640605524506	0.09224	T	0.960504	0.85148	D	0.22763444	0.45468	0.17955123	0.40696	0.22763444	0.45468	0.17955123	0.40696	-14.767	0.95282	D	.	.	0.902	0.82904	P	.;.	.;.	2.773625	0.36418	20.2	0.99233073321773568	0.56278	0.75771	0.37116	D	AEFDBCI	0.408921	0.48040	N	-0.117211494846717	0.36644	2.120836	-0.0803744643829238	0.36201	2.103837	0.58261671976044	0.21583	0.706548	0.73137	0	0.702456	0.74545	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	5.66	3.68	0.41359	-0.067000	0.11538	.	.	-0.237000	0.07570	0.640000	0.28085	0.069000	0.22184	0.439000	0.27649	0.0:0.7556:0.0:0.2444	7.638	0.27443	774	0.48577	Tensin-type phosphatase domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001008	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.003788	0.1667	1835.04	33	chr4	883327	.	C	A	1835.04	.	AC=2;AF=0.167;AN=12;DP=235;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;QD=29.6;SOR=1.143	GT:AD:DP:GQ:PL	1/1:0,62:62:99:1855,186,0	5	1	0	0
chr4	1081428	1081428	G	C	exonic	RNF212	.	nonsynonymous SNV	RNF212:NM_001131034:exon7:c.C455G:p.A152G,RNF212:NM_001366918:exon7:c.C455G:p.A152G,RNF212:NM_001366919:exon7:c.C455G:p.A152G,RNF212:NM_194439:exon7:c.C455G:p.A152G	Recombination rate QTL 1	28	1449	43	2	0	47	0.0159593	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.023	.	0.0008	0.00379393	0.0033	9.614e-05	0.0006	0	0	0.0011	0.0044	0.0187	0.0028978	448	154602	rs149485506	0.0018	0.0018	0.0012	0.0023	0.0182	0.0017	0.0017	0.0175	0.0172	0.0001	0.0010	0.0028	2.519e-05	0	0.0080	0.0006	0.0021	0.0182	0.0011	0.0011	0.0009	0.0014	0.0135	0.0010	0.0010	0.0109	0.0099	7.218e-05	0	0.0017	0.0032	0	0	0.0034	0.0009	0.0024	0.0135	0.108	0.38633	T	0.419	0.14158	T	0.13	0.27095	B	0.034	0.25278	B	.	.	.	.	1	0.08975	N	0.46	0.12951	N	0.79	0.49068	T	-1.15	0.29525	N	0.098	0.07949	-1.0234	0.22606	T	0.076	0.30397	T	9	0.003075391	0.00051	T	.	.	.	0.023	0.04649	.	.	0.43912465853	0.43530	0.032708534155181324	0.03218	0.140165736158	0.15799	0.294128298759	0.09529	T	0.010434	0.09426	T	-0.669486	0.00055	T	-0.720167	0.04788	T	0.00264690105387411	0.00028	T	0.155984	0.01369	T	0.040004596	0.05631	0.03641426	0.03083	0.040004596	0.05631	0.03641426	0.03083	-3.383	0.14829	T	.	.	0.101	0.22208	B	.;.	.;.	0.524532	0.08933	5.714	0.48703724421198052	0.04086	0.12890	0.17541	N	ALL	0.067024	0.13154	N	-1.10675219334992	0.06522	0.3004596	-1.15003070414155	0.06767	0.3268699	0.99999999999825	0.74766	0.646311	0.45356	0	0.59043	0.45803	0	0.645312	0.48771	0	0.586402	0.36253	0	.	.	4.07	1.28	0.20656	0.240000	0.17822	3.753000	0.39691	-0.126000	0.13398	0.000000	0.06391	0.984000	0.30665	0.000000	0.00833	0.2406:0.0:0.545:0.2144	3.029	0.05732	883	0.28872	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	0.002530	0.000000	0.004087	0.005848	0.000000	0.008621	0.000000	0.000000	0.3333	1894.94	34	chr4	1081428	.	G	C	1894.94	.	AC=4;AF=0.333;AN=12;BaseQRankSum=2.08;DP=187;ExcessHet=0.1336;FS=4.375;MLEAC=4;MLEAF=0.333;MQ=60;MQRankSum=0;QD=18.58;ReadPosRankSum=0.325;SOR=1.22	GT:AD:DP:GQ:PL	1/1:0,27:27:81:942,81,0	3	1	2	0
chr4	3220271	3220271	A	T	exonic	HTT	.	nonsynonymous SNV	HTT:NM_002111:exon53:c.A7332T:p.E2444D	Huntington disease, Autosomal dominant	0	1520	2	0	0	2	0.000657462	.	.	.	1548358	not_provided|not_specified	MedGen:C3661900|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.250	0.011105136864	0.0026	0.00139776	0.0018	0.0004	0.0003	0	0.0006	0.0022	0	0.0034	0.0017335	268	154602	rs201702168	0.0021	0.0021	0.0020	0.0021	0.0035	0.0020	0.0020	0.0031	0.0030	0.0003	0.0005	7.652e-05	0	0.0004	0.0002	0.0023	0.0015	0.0035	0.0013	0.0013	0.0014	0.0012	0.0039	0.0012	0.0011	0.0026	0.0021	0.0005	0	0.0010	0	0	0.0003	0.0068	0.0020	0.0014	0.0039	0.501	0.07720	T	0.276	0.21947	T	0.012	0.16265	B	0.007	0.12992	B	0.000001	0.62929	D	0.056285	0.885099	0.35831	D	-0.13	0.04535	N	4.01	0.03208	T	0.07	0.06138	N	0.136	0.13341	-0.8858	0.49290	T	0.006	0.02055	T	10	0.008853495	0.00200	T	0.011105	0.28373	T	0.250	0.55888	0.259	0.20159	0.56863543693	0.56528	0.1769626540286762	0.17615	0.356238940611	0.37372	0.480992972851	0.36193	T	0.090963	0.38697	T	-0.496792	0.00596	T	-0.490062	0.23384	T	0.00159497845904096	0.00016	T	0.882812	0.60417	D	0.103378475	0.24434	0.07995095	0.18044	0.103378475	0.24434	0.07995095	0.18044	-3.113	0.11446	T	0.0707818067983506	0.02763	0.144	0.31758	B	.	.	1.157291	0.15458	11.87	0.85482163761259233	0.15920	0.64683	0.32487	D	AEFBCI	0.105593	0.21093	N	-1.03181025479411	0.07949	0.3710426	-0.894077986312481	0.12234	0.6280933	0.712998349709967	0.22842	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.21	-1.12	0.09306	0.130000	0.15676	0.601000	0.19925	-0.056000	0.16711	0.964000	0.33853	0.982000	0.30508	0.768000	0.36443	0.4236:0.0:0.5764:0.0	13.945	0.63589	450	0.79359	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.1667	1722.04	34	chr4	3220271	.	A	T	1722.04	.	AC=2;AF=0.167;AN=12;DP=231;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;QD=32.49;SOR=0.73	GT:AD:DP:GQ:PL	1/1:0,53:53:99:1742,159,0	5	1	0	0
chr4	6862306	6862306	T	C	exonic	KIAA0232	.	nonsynonymous SNV	KIAA0232:NM_001100590:exon6:c.T1924C:p.S642P,KIAA0232:NM_014743:exon7:c.T1924C:p.S642P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.057	0.00517274981781	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1049661710	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.571e-06	6.567e-06	0	1.345e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.005	0.63226	D	0.024	0.56640	D	0.01	0.15535	B	0.01	0.14941	B	0.002610	0.36243	N	0.335799	0.997385	0.43845	D	1.845	0.48678	L	.	.	.	-1.21	0.30762	N	0.255	0.28849	-0.8699	0.50537	T	0.178	0.52350	T	9	0.10915744	0.20352	T	0.005173	0.13156	T	0.057	0.16321	0.471	0.54537	0.0675242888579	0.06100	0.46100661359438516	0.46018	0.236252140533	0.26164	0.507156848907	0.39825	T	0.032907	0.22691	T	-0.0647136	0.42169	T	-0.330733	0.41388	T	0.740678250789642	0.42773	D	0.785921	0.42389	T	0.33447877	0.55835	0.22762217	0.47778	0.33447877	0.55835	0.22762217	0.47777	-4.395	0.29489	T	.	.	0.096	0.18950	B	.;.	.;.	2.849310	0.37614	20.5	0.99790826753695638	0.87661	0.97746	0.76833	D	AEFBI	0.619401	0.60485	D	-0.157216252661344	0.34928	1.999906	-0.0453646344165534	0.37692	2.210343	0.99990703318278	0.45458	0.651	0.46895	0	0.653731	0.59785	0	0.65145	0.50148	0	0.635551	0.53088	0	.	.	5.73	1.7	0.23359	2.683000	0.46609	0.685000	0.20714	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0737:0.2877:0.6386	6.857	0.23230	682	0.59757	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	1003.86	111	chr4	6862306	.	T	C	1003.86	.	AC=5;AF=0.5;AN=10;BaseQRankSum=-3.38;DP=673;ExcessHet=6.1542;FS=211.761;MLEAC=5;MLEAF=0.5;MQ=60;MQRankSum=0;QD=1.8;ReadPosRankSum=0.542;SOR=10.035	GT:AD:DP:GQ:PL	0/1:82,29:111:99:177,0,1874	0	0	5	1
chr4	8227681	8227681	G	C	exonic	SH3TC1	.	nonsynonymous SNV	SH3TC1:NM_001318480:exon12:c.G1759C:p.A587P,SH3TC1:NM_018986:exon12:c.G1987C:p.A663P	.	427	1091	1	0	3	4	0.000458085	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.636	0.504845256666	.	0.00119808	0.0005	0	0	0	0	0.0002	0	0.0036	0.0003946	61	154602	rs556574724	0.0003	0.0003	0.0002	0.0005	0.0047	0.0003	0.0003	0.0043	0.0041	0	5.431e-05	0	0	0	0.0009	8.357e-05	0.0003	0.0047	0.0002	0.0002	0.0002	0.0003	0.0054	0.0002	0.0001	0.0038	0.0032	0	0	6.534e-05	0	0	0	0	8.824e-05	0.0009	0.0054	0.193	0.20912	T	0.088	0.40586	T	0.999	0.77913	D	0.983	0.75793	D	0.000000	0.84330	D	0.000000	0.989085	0.41501	D	2.65	0.77586	M	-1.43	0.80730	T	-3.28	0.65627	D	0.708	0.71143	0.110	0.84362	D	0.584	0.85065	D	10	0.031876594	0.01328	T	0.504845	0.95210	D	0.636	0.86078	0.5	0.59147	0.83412164292	0.83254	0.7442134319750696	0.74367	0.233966516908	0.25932	0.64973962307	0.59950	T	0.028684	0.20722	T	-0.133651	0.30906	T	0.0347237	0.72585	D	0.210489658799428	0.20979	T	0.874613	0.58533	D	0.77549344	0.82378	0.67564005	0.80954	0.77549344	0.82380	0.67564005	0.80955	-11.056	0.79964	D	.	.	0.696	0.72811	P	.	.	4.719222	0.75895	26.4	0.99702866465668027	0.80729	0.92503	0.55864	D	AEFDBCI	0.811709	0.73462	D	0.577132960037135	0.71750	5.698445	0.53506118390118	0.70366	5.494483	0.999999999336693	0.74766	0.722319	0.85440	0	0.698795	0.70079	0	0.578056	0.29568	0	0.662433	0.64102	0	.	.	4.46	4.46	0.53567	4.156000	0.57917	11.469000	0.92852	0.588000	0.31329	0.998000	0.41325	1.000000	0.68203	0.956000	0.50813	0.0884:0.0:0.9116:0.0	10.816	0.45779	988	0.01987	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003027	0.000000	0.000000	0.002941	0.000000	0.000000	0.000000	0.007576	0.1667	1758.04	64	chr4	8227681	.	G	C	1758.04	.	AC=2;AF=0.167;AN=12;DP=280;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;QD=34.47;SOR=0.813	GT:AD:DP:GQ:PL	1/1:0,51:51:99:1778,153,0	5	1	0	0
chr4	9268709	9268709	G	A	exonic	USP17L20;USP17L22	.	nonsynonymous SNV	USP17L20:NM_001256861:exon1:c.G1091A:p.S364N,USP17L22:NM_001256863:exon1:c.G1091A:p.S364N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.043	0.00723463084694	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1460789286	0.0012	0.0021	0.0012	0.0013	0.0128	0.0011	0.0011	0.0104	0.0095	0.0128	0.0007	0.0002	0.0004	0.0015	0.0008	0.0013	0.0009	0.0003	0.0005	0.0014	0.0004	0.0007	0.0021	0.0002	0.0001	0.0004	0.0002	0.0021	0	0	0	0	0.0016	0	0.0002	0	0	0.676	0.04482	T	1.0	0.01155	T	0.018	0.17786	B	0.034	0.22546	B	0.028604	0.25577	N	0.364420	0.998951	0.21765	N	0.78	0.19475	N	1.47	0.31987	T	0.06	0.06253	N	0.074	0.04913	-0.9921	0.32063	T	0.035	0.15074	T	9	0.051680446	0.05086	T	0.007235	0.19171	T	0.043	0.11576	0.464	0.53404	0.0806252709748	0.07271	0.008370571817142807	0.00801	.	.	0.590677976608	0.51590	T	0.003401	0.02809	T	-0.371603	0.03514	T	-0.771558	0.02717	T	0.0729970623782887	0.09065	T	0.280472	0.04884	T	0.08599369	0.19972	0.09672608	0.22994	0.08599369	0.19972	0.09672608	0.22994	-1.941	0.02966	T	.	.	0.114	0.22825	B	.;.	.;.	1.081240	0.14642	11.20	0.87434924989059604	0.17225	0.03001	0.07865	N	AEFI	0.036354	0.04831	N	-1.05018183717855	0.07584	0.3527977	-1.06525833149353	0.08392	0.4124188	1.2986059717826E-6	0.01202	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.337	0.337	0.15206	0.091000	0.14885	.	.	-0.659000	0.04360	0.997000	0.40164	0.000000	0.08366	0.046000	0.14843	.	.	.	.	.	Peptidase C19, ubiquitin carboxyl-terminal hydrolase|Ubiquitin specific protease domain;Peptidase C19, ubiquitin carboxyl-terminal hydrolase|Ubiquitin specific protease domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	39.41	6	chr4	9268709	.	G	A	39.41	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.812;DP=32;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=20.34;MQRankSum=1.18;QD=4.38;ReadPosRankSum=1.51;SOR=0.283	GT:AD:DP:GQ:PL	0/1:6,3:9:49:49,0,122	5	0	1	0
chr4	36229139	36229139	G	C	exonic	ARAP2	.	nonsynonymous SNV	ARAP2:NM_015230:exon2:c.C348G:p.S116R	.	430	1045	44	3	0	50	0.0233645	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.086	.	0.0031	0.00399361	0.0063	0.0010	0.0010	0	0.0074	0.0058	0.0154	0.0179	0.0058925	911	154602	rs34482185	0.0060	0.0060	0.0054	0.0067	0.0184	0.0059	0.0059	0.0176	0.0173	0.0008	0.0016	0.0134	2.519e-05	0.0095	0.0092	0.0053	0.0064	0.0184	0.0046	0.0046	0.0044	0.0048	0.0156	0.0043	0.0042	0.0127	0.0117	0.0007	0	0.0014	0.0161	0	0.0128	0.0034	0.0055	0.0047	0.0156	0.016	0.51853	D	0.29	0.21011	T	0.475	0.36638	P	0.188	0.36237	B	0.152104	0.17933	N	0.570963	1	0.08975	N	2.125	0.59049	M	-0.16	0.65378	T	-0.85	0.23156	N	0.199	0.21969	-0.9897	0.32677	T	0.104	0.38243	T	10	0.0038110316	0.00072	T	.	.	.	0.086	0.25016	0.116	0.02439	0.388495093706	0.38465	0.2546789361809776	0.25381	0.0264438352101	0.02702	0.278621405363	0.07301	T	0.010713	0.09649	T	-0.50069	0.00567	T	-0.477046	0.24761	T	0.00423517355016059	0.00045	T	0.608739	0.23025	T	0.09569906	0.22528	0.13272984	0.31843	0.09569906	0.22527	0.13272984	0.31842	-5.549	0.42324	T	.	.	0.140	0.30765	B	.	.	0.661489	0.10298	7.031	0.97686457425309436	0.35346	0.14229	0.18292	N	AEFGBI	0.059383	0.11212	N	-0.491741756843137	0.22351	1.192846	-0.539032563047357	0.21097	1.139682	0.999906336411245	0.45458	0.562547	0.31514	0	0.653731	0.59785	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	5.6	3.86	0.43689	0.504000	0.22335	0.387000	0.17845	0.672000	0.70159	0.007000	0.17678	0.000000	0.08366	0.018000	0.11154	0.1604:0.0:0.8396:0.0	9.748	0.39629	726	0.54788	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.011581	0.000000	0.002717	0.008772	0.000000	0.008621	0.015244	0.045455	0.08333	1094.83	35	chr4	36229139	.	G	C	1094.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.555;DP=265;ExcessHet=0;FS=1.793;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.03;ReadPosRankSum=1.12;SOR=0.465	GT:AD:DP:GQ:PL	0/1:44,40:84:99:1105,0,1277	5	0	1	0
chr4	39103467	39103467	C	T	exonic	KLHL5	.	nonsynonymous SNV	KLHL5:NM_199039:exon6:c.C1298T:p.T433I,KLHL5:NM_001171654:exon7:c.C1058T:p.T353I,KLHL5:NM_015990:exon7:c.C1481T:p.T494I,KLHL5:NM_001007075:exon8:c.C1481T:p.T494I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.391	0.0171060478813	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.461	0.18956	T	0.302	0.27414	T	0.099	0.25639	B	0.034	0.25434	B	0.000004	0.62929	D	0.139015	0.999995	0.58761	D	1.845	0.48678	L	-1.17	0.78199	T	-2.01	0.46337	N	0.493	0.54584	-0.4495	0.70417	T	0.407	0.75635	T	10	0.4312203	0.57503	T	0.017106	0.38673	T	0.391	0.70684	0.491	0.57732	0.820100026833	0.81840	0.3631764824442859	0.36231	1.03285227811	0.75478	0.845786809921	0.88977	D	0.391451	0.75137	T	0.125139	0.66884	D	-0.0580228	0.66470	T	0.713013164387373	0.41348	D	0.583442	0.38541	T	0.1350033	0.31347	0.20949835	0.45297	0.1350033	0.31347	0.20949835	0.45296	-6.397	0.49486	T	.	.	0.128	0.31906	B	.;.;.;.;.	.;.;.;.;.	3.265757	0.44684	22.0	0.97563225588543845	0.34637	0.86498	0.45790	D	AEFDGBHCI	0.595444	0.58999	D	0.112146592274767	0.47030	2.934403	0.269017039635714	0.53740	3.541396	0.999999945661135	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.711	0.71501	0	.	.	5.42	5.42	0.78666	3.951000	0.56392	7.621000	0.62310	0.599000	0.40250	0.999000	0.42656	1.000000	0.68203	0.998000	0.85391	0.0:1.0:0.0:0.0	19.600	0.95551	512	0.75040	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	588.83	33	chr4	39103467	.	C	T	588.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-3.061;DP=238;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=9.06;ReadPosRankSum=-0.839;SOR=0.779	GT:AD:DP:GQ:PL	0/1:43,22:65:99:599,0,1433	5	0	1	0
chr4	48491008	48491010	CGA	-	exonic	ZAR1	.	nonframeshift deletion	ZAR1:NM_175619:exon1:c.717_719del:p.D242del	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.246e-07	1.163e-05	0	1.695e-06	1.004e-06	0	0	.	.	0	0	0	0	0	0	1.004e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	40.79	25	chr4	48491007	.	CCGA	C	40.79	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.051;DP=105;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=3.14;ReadPosRankSum=1.69;SOR=0.18	GT:AD:DP:GQ:PL	0/1:11,2:13:51:51,0,456	5	0	1	0
chr4	54738513	54738513	A	G	exonic	KIT	.	nonsynonymous SNV	KIT:NM_000222:exon21:c.A2887G:p.T963A,KIT:NM_001093772:exon21:c.A2875G:p.T959A,KIT:NM_001385284:exon21:c.A2890G:p.T964A,KIT:NM_001385285:exon21:c.A2884G:p.T962A,KIT:NM_001385286:exon21:c.A2872G:p.T958A,KIT:NM_001385288:exon21:c.A2878G:p.T960A,KIT:NM_001385290:exon21:c.A2887G:p.T963A,KIT:NM_001385292:exon21:c.A2875G:p.T959A	Gastrointestinal stromal tumor, familial, Autosomal dominant, Isolated cases;Germ cell tumors, Somatic mutation;Leukemia, acute myeloid, Autosomal dominant;Mast cell disease, Autosomal dominant;Piebaldism, Autosomal dominant	0	1519	3	0	0	3	0.000986518	.	.	.	394339	Hereditary_cancer-predisposing_syndrome|not_provided|Piebaldism|Malignant_tumor_of_testis|Gastrointestinal_stromal_tumor|Mastocytosis|Acute_myeloid_leukemia	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MedGen:C3661900|Human_Phenotype_Ontology:HP:0001044,Human_Phenotype_Ontology:HP:0007544,MONDO:MONDO:0008244,MedGen:C0080024,OMIM:172800,Orphanet:2884|MONDO:MONDO:0005447,MedGen:C0153594|Human_Phenotype_Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764,Orphanet:44890|Human_Phenotype_Ontology:HP:0100495,MONDO:MONDO:0007950,MedGen:C0024899,Orphanet:98292|Human_Phenotype_Ontology:HP:0001914,Human_Phenotype_Ontology:HP:0004808,Human_Phenotype_Ontology:HP:0004843,Human_Phenotype_Ontology:HP:0005516,Human_Phenotype_Ontology:HP:0006724,Human_Phenotype_Ontology:HP:0006728,MONDO:MONDO:0018874,MeSH:D015470,MedGen:C0023467,OMIM:601626,Orphanet:519	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.327	0.0354633582667	.	.	1.648e-05	0	0	0	0	2.998e-05	0	0	1.29e-05	2	154602	rs773709702	1.231e-05	1.231e-05	1.361e-05	1.1e-05	0.0010	7.7e-06	6.35e-06	0.0005	0.0003	2.987e-05	4.472e-05	0	0	0	0.0010	4.496e-06	6.624e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.036	0.44694	D	0.075	0.43344	T	0.002	0.13644	B	0.015	0.17295	B	0.000030	0.55875	D	0.075634	0.996268	0.24273	N	0.695	0.17993	N	-1.05	0.76690	T	-0.41	0.14000	N	0.074	0.04790	-0.7816	0.56212	T	0.237	0.60379	T	10	0.1251162	0.23772	T	0.035463	0.56363	D	0.327	0.64926	0.081	0.00694	0.735296232879	0.73292	0.34952301130219093	0.34866	0.4403143847	0.44044	0.360971271992	0.19527	T	0.240127	0.60839	T	-0.167561	0.25604	T	-0.41482	0.31671	T	0.42531755566597	0.29887	T	0.876412	0.58869	D	0.054195482	0.10366	0.077825055	0.17375	0.054195482	0.10365	0.077825055	0.17375	-3.623	0.18818	T	.	.	0.065	0.01960	B	.;.	.;.	3.530734	0.49532	22.8	0.98891169780776234	0.48001	0.97957	0.78421	D	AEFBI	0.842887	0.75996	D	-0.179405413022095	0.33993	1.934995	0.0310938148432786	0.41166	2.468729	0.998000412220913	0.36301	0.732398	0.92422	0	0.573888	0.26702	0	0.743671	0.96076	0	0.631631	0.49550	0	.	.	5.72	5.72	0.89380	6.125000	0.71359	11.239000	0.90365	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.277000	0.23942	1.0:0.0:0.0:0.0	14.251	0.65566	896	0.25515	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001511	0.000000	0.005435	0.000000	0.000000	0.000000	0.000000	0.000000	0.08333	537.83	33	chr4	54738513	.	A	G	537.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.75;DP=256;ExcessHet=0;FS=3.285;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=6.64;ReadPosRankSum=0.496;SOR=1.161	GT:AD:DP:GQ:PL	0/1:56,25:81:99:548,0,1398	5	0	1	0
chr4	65669679	65669679	G	T	exonic	EPHA5	.	nonsynonymous SNV	EPHA5:NM_001281765:exon1:c.C64A:p.P22T,EPHA5:NM_001281766:exon1:c.C64A:p.P22T,EPHA5:NM_001281767:exon1:c.C64A:p.P22T,EPHA5:NM_004439:exon1:c.C64A:p.P22T,EPHA5:NM_182472:exon1:c.C64A:p.P22T	.	415	1106	0	1	0	2	0.000903342	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.074	0.0370798578078	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.026e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.008	0.58626	D	0.331	0.21478	T	0.001	0.07471	B	0.003	0.10090	B	0.091205	0.20337	N	0.360102	1	0.08975	N	0	0.06538	N	-0.57	0.71895	T	-0.94	0.25118	N	0.347	0.38848	-1.0406	0.17132	T	0.131	0.44188	T	10	0.10370302	0.19079	T	0.03708	0.57392	D	0.074	0.21613	0.117	0.02508	0.695720267042	0.69309	0.25924828935521343	0.25838	0.630853255338	0.57057	0.782312273979	0.79277	T	0.07654	0.35442	T	-0.114624	0.34007	T	-0.402426	0.33103	T	0.0906344254905335	0.11293	T	0.839416	0.51368	T	0.05260058	0.09834	0.050977416	0.08110	0.05260058	0.09834	0.050977416	0.08110	-4.454	0.30876	T	.	.	0.070	0.03811	B	.;.;.;.;.;.	.;.;.;.;.;.	2.602130	0.33775	19.44	0.99326252581676788	0.59584	0.25272	0.22649	N	AEFDBCI	0.039155	0.05648	N	-0.929881315016334	0.10148	0.483578	-0.916849936584017	0.11697	0.597485	0.999528622668903	0.40175	0.455138	0.09556	0	0.59043	0.45803	0	0.608004	0.38603	0	0.56751	0.32155	0	.	.	4.83	-0.156	0.12736	0.863000	0.27567	-0.141000	0.11517	0.672000	0.70159	0.341000	0.25683	0.000000	0.08366	0.403000	0.26849	0.2829:0.316:0.4011:0.0	4.293	0.10333	935	0.14827	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	378.83	34	chr4	65669679	.	G	T	378.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.462;DP=176;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=15.15;ReadPosRankSum=-0.472;SOR=0.892	GT:AD:DP:GQ:PL	0/1:10,15:25:99:389,0,234	5	0	1	0
chr4	70336207	70336207	C	A	exonic	CABS1	.	nonsynonymous SNV	CABS1:NM_033122:exon1:c.C1168A:p.P390T	.	423	1097	2	0	0	2	0.000910747	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.197	0.0235958021861	.	.	8.409e-06	0	0	0	0	1.521e-05	0	0	6.5e-06	1	154602	rs745910463	8.913e-06	9.577e-06	6.821e-06	1.103e-05	0.0003	4.97e-06	3.83e-06	6.123e-05	2.533e-05	0	0	0	0	0	0.0003	7.204e-06	1.662e-05	2.33e-05	6.581e-06	6.568e-06	0	1.347e-05	1.471e-05	0	0	.	.	0	0	0	0	0	0	0	1.471e-05	0	0	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.99	0.78936	D	0.000901	0.41231	D	0.000000	0.645674	0.30577	N	1.04	0.26193	L	0.82	0.48142	T	-7.2	0.94223	D	0.58	0.60156	-0.7864	0.55938	T	0.175	0.51864	T	10	0.6219182	0.68026	D	0.023596	0.46567	T	0.197	0.47942	0.409	0.44395	0.778042865873	0.77599	0.07058010455134617	0.06995	0.314766253581	0.33761	0.405301183462	0.25806	T	0.034845	0.23485	T	0.0241734	0.54942	T	-0.102423	0.63211	T	0.795338548116297	0.46040	D	0.578142	0.20837	T	0.71109295	0.78667	0.46367738	0.68867	0.71109295	0.78669	0.46367738	0.68867	-2.095	0.03562	T	.	.	0.214	0.44240	B	.	.	3.566476	0.50211	22.9	0.9969527795281885	0.80248	0.67795	0.33563	D	AEFHCI	0.083754	0.16970	N	0.450083581857994	0.64208	4.670218	0.418425386189829	0.62713	4.491434	3.67324175988266E-4	0.06707	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.69	3.84	0.43422	1.911000	0.39567	3.570000	0.39120	0.599000	0.40250	0.997000	0.40164	0.984000	0.30665	0.895000	0.43227	0.0:0.8928:0.0:0.1072	8.068	0.29833	929	0.16858	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	933.83	82	chr4	70336207	.	C	A	933.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.187;DP=437;ExcessHet=0;FS=5.927;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=9.53;ReadPosRankSum=-0.372;SOR=1.451	GT:AD:DP:GQ:PL	0/1:62,36:98:99:944,0,1783	5	0	1	0
chr4	87423002	87423002	C	A	exonic	NUDT9	.	nonsynonymous SNV	NUDT9:NM_001248011:exon1:c.C97A:p.Q33K,NUDT9:NM_024047:exon1:c.C97A:p.Q33K	.	432	1065	23	2	0	27	0.0125174	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.058	0.0157474442518	0.0028	0.00219649	0.0030	0.0008	0.0014	0	0.0006	0.0039	0.0044	0.0043	0.0029172	451	154602	rs146952902	0.0030	0.0030	0.0029	0.0032	0.0210	0.0030	0.0029	0.0179	0.0168	0.0007	0.0017	0.0063	0	0.0006	0.0210	0.0031	0.0037	0.0044	0.0024	0.0024	0.0023	0.0025	0.0035	0.0022	0.0021	0.0031	0.0030	0.0006	0.0318	0.0016	0.0052	0	0.0003	0.0102	0.0035	0.0071	0.0023	0.299	0.14595	T	0.732	0.06448	T	0.0	0.02946	B	0.001	0.04355	B	0.159179	0.17718	N	0.536650	1	0.21117	N	0	0.06538	N	-0.95	0.75438	T	-0.03	0.07444	N	0.102	0.08506	-0.9309	0.44006	T	0.130	0.43907	T	10	0.0036392808	0.00066	T	0.015747	0.36654	T	0.058	0.16647	.	.	0.751563266754	0.74931	0.6665438887137366	0.66592	0.447342404213	0.44593	0.320701599121	0.13528	T	0.044926	0.32375	T	-0.444816	0.01211	T	-0.411458	0.32056	T	0.00758554600725381	0.00088	T	0.232977	0.03672	T	0.0655083	0.14007	0.060480315	0.11525	0.0655083	0.14007	0.060480315	0.11524	-3.956	0.23143	T	.	.	0.073	0.08033	B	.;.	.;.	0.312258	0.06872	3.407	0.75623271815446069	0.11147	0.08455	0.14382	N	ALL	0.072755	0.14531	N	-0.952301312095	0.09641	0.4571769	-0.95089995723086	0.10901	0.5520998	0.999999992765565	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	3.56	2.71	0.31092	0.616000	0.24038	0.513000	0.19097	0.549000	0.26987	0.004000	0.16614	0.001000	0.17328	0.004000	0.06068	0.0:0.7534:0.2466:0.0	9.128	0.35987	558	0.71484	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.016616	0.015152	0.009511	0.029240	0.000000	0.025862	0.015244	0.022727	0.08333	771.83	36	chr4	87423002	.	C	A	771.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.987;DP=259;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=8.77;ReadPosRankSum=0.41;SOR=0.707	GT:AD:DP:GQ:PL	0/1:51,37:88:99:782,0,1103	5	0	1	0
chr4	87615730	87615733	ATAG	0	exonic	DSPP	.	.	.	Deafness, autosomal dominant 39, with dentinogenesis, Autosomal dominant;Dentin dysplasia, type II, Autosomal dominant;Dentinogenesis imperfecta, Shields type II, Autosomal dominant;Dentinogenesis imperfecta, Shields type III, Autosomal dominant	983	222	100	33	184	350	0.272131	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6667	775.23	20	chr4	87615730	.	ATAG	*	775.23	.	AC=8;AF=0.667;AN=12;BaseQRankSum=-0.524;DP=195;ExcessHet=0;FS=3.182;MLEAC=8;MLEAF=0.667;MQ=57.92;MQRankSum=1.78;QD=5.46;ReadPosRankSum=1.74;SOR=0.614	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,23:23:70:.:.:973,70,0:.	1	3	2	0
chr4	87615734	87615767	CAGTGACAGCAGCAACAGCAGTGACAGCAGCGAT	0	exonic	DSPP	.	.	.	Deafness, autosomal dominant 39, with dentinogenesis, Autosomal dominant;Dentin dysplasia, type II, Autosomal dominant;Dentinogenesis imperfecta, Shields type II, Autosomal dominant;Dentinogenesis imperfecta, Shields type III, Autosomal dominant	1008	200	99	33	182	347	0.292035	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6667	828.83	20	chr4	87615734	.	CAGTGACAGCAGCAACAGCAGTGACAGCAGCGAT	*	828.83	.	AC=8;AF=0.667;AN=12;BaseQRankSum=1.04;DP=204;ExcessHet=0;FS=3.182;MLEAC=8;MLEAF=0.667;MQ=57.76;MQRankSum=1.78;QD=5.84;ReadPosRankSum=1.74;SOR=0.614	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,23:23:70:.:.:973,70,0:.	1	3	2	0
chr4	87615936	87615936	A	0	exonic	DSPP	.	.	.	Deafness, autosomal dominant 39, with dentinogenesis, Autosomal dominant;Dentin dysplasia, type II, Autosomal dominant;Dentinogenesis imperfecta, Shields type II, Autosomal dominant;Dentinogenesis imperfecta, Shields type III, Autosomal dominant	1110	191	63	131	27	352	0.459689	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4	1217.02	35	chr4	87615936	.	A	*	1217.02	.	AC=4;AF=0.4;AN=10;BaseQRankSum=3;DP=144;ExcessHet=0;FS=0;MLEAC=4;MLEAF=0.4;MQ=58.23;MQRankSum=-1.876;QD=9.22;ReadPosRankSum=-1.614;SOR=0.69	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,25:25:67:1|1:87615920_TAGCAGTGACAGCAGCAATAGCAGTGACAGCAGCGATAGCAGCGACAGCAGCGAC_T:946,67,0:87615920	3	2	0	1
chr4	87615952	87615955	GCGA	0	exonic	DSPP	.	.	.	Deafness, autosomal dominant 39, with dentinogenesis, Autosomal dominant;Dentin dysplasia, type II, Autosomal dominant;Dentinogenesis imperfecta, Shields type II, Autosomal dominant;Dentinogenesis imperfecta, Shields type III, Autosomal dominant	1179	318	11	12	2	37	0.052161	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	605.62	35	chr4	87615952	.	GCGA	*	605.62	.	AC=4;AF=0.5;AN=8;BaseQRankSum=-1.586;DP=113;ExcessHet=0;FS=4.195;MLEAC=5;MLEAF=0.625;MQ=58.82;MQRankSum=-0.31;QD=6.66;ReadPosRankSum=-0.755;SOR=0.283	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,25:25:67:1|1:87615920_TAGCAGTGACAGCAGCAATAGCAGTGACAGCAGCGATAGCAGCGACAGCAGCGAC_T:946,67,0:87615920	2	2	0	2
chr4	87615956	87615962	TAGCAGC	0	exonic	DSPP	.	.	.	Deafness, autosomal dominant 39, with dentinogenesis, Autosomal dominant;Dentin dysplasia, type II, Autosomal dominant;Dentinogenesis imperfecta, Shields type II, Autosomal dominant;Dentinogenesis imperfecta, Shields type III, Autosomal dominant	1160	197	41	98	26	263	0.375594	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4	1186.42	35	chr4	87615956	.	TAGCAGC	*	1186.42	.	AC=4;AF=0.4;AN=10;BaseQRankSum=1.38;DP=110;ExcessHet=0;FS=0;MLEAC=4;MLEAF=0.4;MQ=57.61;MQRankSum=1.38;QD=11.19;ReadPosRankSum=0.21;SOR=0.61	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,25:25:67:1|1:87615920_TAGCAGTGACAGCAGCAATAGCAGTGACAGCAGCGATAGCAGCGACAGCAGCGAC_T:946,67,0:87615920	3	2	0	1
chr4	87615962	87615962	C	0	exonic	DSPP	.	.	.	Deafness, autosomal dominant 39, with dentinogenesis, Autosomal dominant;Dentin dysplasia, type II, Autosomal dominant;Dentinogenesis imperfecta, Shields type II, Autosomal dominant;Dentinogenesis imperfecta, Shields type III, Autosomal dominant	1185	208	24	81	24	210	0.30897	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	433.66	35	chr4	87615962	.	C	*	433.66	.	AC=5;AF=0.5;AN=10;DP=109;ExcessHet=0;FS=0;MLEAC=6;MLEAF=0.6;MQ=54.4;MQRankSum=1.47;QD=4.21;SOR=0.593	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,25:25:67:1|1:87615920_TAGCAGTGACAGCAGCAATAGCAGTGACAGCAGCGATAGCAGCGACAGCAGCGAC_T:946,67,0:87615920	2	2	1	1
chr4	87615971	87615971	C	0	exonic	DSPP	.	.	.	Deafness, autosomal dominant 39, with dentinogenesis, Autosomal dominant;Dentin dysplasia, type II, Autosomal dominant;Dentinogenesis imperfecta, Shields type II, Autosomal dominant;Dentinogenesis imperfecta, Shields type III, Autosomal dominant	1193	243	20	43	23	129	0.179054	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	211.81	35	chr4	87615971	.	C	*	211.81	.	AC=4;AF=0.5;AN=8;DP=96;ExcessHet=0;FS=0;MLEAC=5;MLEAF=0.625;MQ=58.89;QD=3.21;SOR=0.957	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,25:25:67:1|1:87615920_TAGCAGTGACAGCAGCAATAGCAGTGACAGCAGCGATAGCAGCGACAGCAGCGAC_T:946,67,0:87615920	2	2	0	2
chr4	89113762	89113762	G	A	exonic	TIGD2	.	nonsynonymous SNV	TIGD2:NM_001382380:exon2:c.G788A:p.R263K,TIGD2:NM_145715:exon2:c.G788A:p.R263K	.	429	1089	4	0	0	4	0.00183318	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.044	0.00177332286756	.	.	8.243e-06	0	0	0	0	0	0	6.059e-05	6.5e-06	1	154602	rs754436347	4.788e-06	4.788e-06	2.722e-06	6.875e-06	0.0007	1.99e-06	1.28e-06	0.0002	0.0001	0	0	0	0	0	0.0007	8.993e-07	0	2.319e-05	1.314e-05	1.313e-05	1.284e-05	1.345e-05	2.939e-05	2.18e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.939e-05	0	0	0.952	0.02136	T	0.933	0.02750	T	0.002	0.09854	B	0.003	0.08700	B	0.028369	0.25612	N	0.274240	0.999376	0.21289	N	-0.49	0.02651	N	1.01	0.41058	T	0.27	0.04306	N	0.17	0.18103	-1.0217	0.23162	T	0.045	0.19478	T	10	0.06915411	0.09882	T	0.001773	0.03012	T	0.044	0.11924	0.607	0.73945	0.264547087235	0.26054	0.1901371961342062	0.18931	0.140382735121	0.15837	0.48381587863	0.36582	T	0.009036	0.08254	T	-0.304276	0.08262	T	-0.577994	0.14725	T	0.0245531642926208	0.01215	T	0.665633	0.27494	T	0.054865055	0.10585	0.04751043	0.06858	0.054865055	0.10585	0.04751043	0.06858	-2.452	0.05462	T	.	.	0.091	0.16407	B	.;.	.;.	1.375064	0.17855	13.41	0.75720848729712609	0.11185	0.42486	0.26888	N	AEFGBHCI	0.068684	0.13561	N	-0.536468681587165	0.20910	1.105796	-0.349870514362063	0.26513	1.464932	0.999996216934634	0.74766	0.740787	0.97801	0	0.696367	0.67918	0	0.709663	0.75317	0	0.655142	0.61905	0	.	.	4.49	2.67	0.30756	0.479000	0.21938	2.868000	0.35247	0.676000	0.76740	0.555000	0.27385	1.000000	0.68203	1.000000	0.97212	0.3265:0.0:0.6735:0.0	6.239	0.19987	862	0.33134	DDE superfamily endonuclease domain;DDE superfamily endonuclease domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.08333	795.83	33	chr4	89113762	.	G	A	795.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.668;DP=254;ExcessHet=0;FS=1.929;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.61;ReadPosRankSum=1.72;SOR=0.924	GT:AD:DP:GQ:PL	0/1:43,32:75:99:806,0,1080	5	0	1	0
chr4	89953020	89953020	T	C	exonic	MMRN1	.	nonsynonymous SNV	MMRN1:NM_007351:exon8:c.T3289C:p.Y1097H,MMRN1:NM_001371403:exon9:c.T3289C:p.Y1097H	.	433	1086	3	0	0	3	0.00137931	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.349	0.0400902348327	7.7e-05	0.000399361	0.0001	9.844e-05	0	0	0	0.0001	0	0.0003	0.0001035	16	154602	rs199716183	7.624e-05	7.661e-05	6.145e-05	9.12e-05	0.0014	6.449e-05	6.028e-05	0.0007	0.0005	9.044e-05	2.272e-05	0.0004	0	0	0.0014	3.606e-05	0.0002	0.0004	0.0001	0.0001	0.0001	0.0001	0.0006	9.736e-05	8.251e-05	0.0002	9.003e-05	0.0002	0	0.0002	0.0003	0	0	0.0034	7.351e-05	0	0.0006	0.031	0.72154	D	0.0	0.92824	D	1.0	0.90584	D	0.997	0.86255	D	0.000010	0.62929	D	0.000000	0.972161	0.38925	D	1.39	0.34934	L	0.11	0.66474	T	-0.69	0.27259	N	0.656	0.71321	-0.2831	0.75456	T	0.388	0.74305	T	10	0.194527	0.35267	T	0.04009	0.59179	D	0.349	0.67049	.	.	0.710252556725	0.70772	0.4291670179428041	0.42833	0.0868715534287	0.09797	0.732777237892	0.71913	T	0.115045	0.45217	T	-0.0785767	0.39944	T	-0.0306368	0.68326	D	0.0925420665866641	0.11516	T	0.872513	0.57956	D	0.10982175	0.25962	0.105853744	0.25455	0.10982175	0.25962	0.105853744	0.25454	-3.366	0.14602	T	.	.	0.734	0.78581	P	.;.;.	.;.;.	4.528004	0.71055	25.6	0.99857060259026864	0.93548	0.92722	0.56386	D	AEFBI	0.698648	0.65625	D	0.525458370543049	0.68600	5.239589	0.488205813613256	0.67208	5.053234	0.947861424996864	0.27773	0.706548	0.73137	0	0.588015	0.36545	0	0.547309	0.15389	0	0.714379	0.83352	0	.	.	4.53	4.53	0.55009	5.028000	0.63895	7.265000	0.57972	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.0:0.0:0.0:1.0	13.122	0.58750	871	0.31377	C1q domain|C1q domain;C1q domain|C1q domain;C1q domain|C1q domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001511	0.000000	0.004076	0.000000	0.000000	0.000000	0.000000	0.000000	0.08333	601.83	42	chr4	89953020	.	T	C	601.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=3.36;DP=225;ExcessHet=0;FS=1.202;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.8;ReadPosRankSum=0.557;SOR=0.96	GT:AD:DP:GQ:PL	0/1:26,21:47:99:612,0,599	5	0	1	0
chr4	95129947	95129947	G	A	exonic	BMPR1B	.	nonsynonymous SNV	BMPR1B:NM_001256792:exon7:c.G671A:p.R224H,BMPR1B:NM_001256793:exon7:c.G761A:p.R254H,BMPR1B:NM_001256794:exon7:c.G671A:p.R224H,BMPR1B:NM_001203:exon9:c.G671A:p.R224H	Acromesomelic dysplasia, Demirhan type, Autosomal recessive;Brachydactyly, type A1, D, Autosomal dominant;Brachydactyly, type A2, Autosomal dominant	0	1521	1	0	0	1	0.000328623	.	.	.	299982	BMPR1B-related_disorder|Acromesomelic_dysplasia_3|Type_A2_brachydactyly|not_provided|Brachydactyly	.|MONDO:MONDO:0012274,MedGen:C4225404,OMIM:609441|Human_Phenotype_Ontology:HP:0009372,MONDO:MONDO:0007216,MedGen:C1832702,OMIM:112600,Orphanet:93396|MedGen:C3661900|Human_Phenotype_Ontology:HP:0001156,Human_Phenotype_Ontology:HP:0001189,Human_Phenotype_Ontology:HP:0001201,Human_Phenotype_Ontology:HP:0005630,Human_Phenotype_Ontology:HP:0005657,Human_Phenotype_Ontology:HP:0005727,Human_Phenotype_Ontology:HP:0006017,Human_Phenotype_Ontology:HP:0006128,Human_Phenotype_Ontology:HP:0100667,MONDO:MONDO:0021004,MedGen:C0221357	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.523	0.0639030800321	0.0008	0.000599042	0.0011	0.0005	0.0003	0.0003	0.0015	0.0016	0	0.0003	0.0009638	149	154602	rs35973133	0.0007	0.0007	0.0007	0.0007	0.0008	0.0007	0.0007	0.0007	0.0007	0.0003	0.0002	0.0016	0.0002	0.0008	0.0005	0.0008	0.0007	0.0004	0.0008	0.0008	0.0008	0.0008	0.0013	0.0007	0.0006	0.0011	0.0010	0.0003	0	0.0003	0.0014	0.0004	0.0007	0	0.0013	0	0.0006	0.036	0.44358	D	0.242	0.34241	T	0.416	0.35222	B	0.108	0.31289	B	0.000000	0.84330	D	0.000000	1	0.81001	D	1.56	0.39490	L	-3.23	0.93414	D	-4.37	0.77308	D	0.744	0.85027	0.300	0.87557	D	0.710	0.90032	D	10	0.084184706	0.14083	T	0.063903	0.69112	D	0.523	0.79765	.	.	0.922724566945	0.92193	0.6915159658757071	0.69091	0.302866738118	0.32613	0.81956243515	0.84961	D	0.783911	0.94320	D	0.0302997	0.55764	T	0.264271	0.86296	D	0.0510502388134741	0.05684	T	0.80292	0.44963	T	0.29100126	0.52086	0.44137716	0.67423	0.41382685	0.61679	0.4285253	0.66563	-9.281	0.69732	D	.	.	0.766	0.75767	P	.;.;.;.;.	.;.;.;.;.	5.259087	0.88304	29.5	0.99807747905466526	0.89174	0.97074	0.72538	D	AEFGBHCIJ	0.915435	0.88023	D	0.376162852939217	0.60132	4.198973	0.538904422784041	0.70631	5.533387	1.0	0.98316	0.50284	0.20314	0	0.573888	0.26702	0	0.618467	0.43123	0	0.654926	0.60358	0	.	.	5.9	5.9	0.94952	10.003000	0.99689	11.892000	0.99120	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:1.0:0.0	20.336	0.98737	565	0.70868	Serine-threonine/tyrosine-protein kinase, catalytic domain|Protein kinase, ATP binding site|Protein kinase domain|Protein kinase domain;Serine-threonine/tyrosine-protein kinase, catalytic domain|Protein kinase, ATP binding site|Protein kinase domain|Protein kinase domain;.;Serine-threonine/tyrosine-protein kinase, catalytic domain|Protein kinase, ATP binding site|Protein kinase domain|Protein kinase domain;Serine-threonine/tyrosine-protein kinase, catalytic domain|Protein kinase, ATP binding site|Protein kinase domain|Protein kinase domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	705.83	34	chr4	95129947	.	G	A	705.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.5;DP=244;ExcessHet=0;FS=0.989;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.76;ReadPosRankSum=-0.052;SOR=0.841	GT:AD:DP:GQ:PL	0/1:29,31:60:99:716,0,690	5	0	1	0
chr4	99347057	99347057	C	G	exonic	ADH1C	.	nonsynonymous SNV	ADH1C:NM_000669:exon3:c.G208C:p.A70P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.79402	D	0.987	0.61912	D	0.964	0.71005	D	.	.	.	.	.	.	.	1.585	0.39878	L	.	.	.	.	.	.	0.553	0.57860	.	.	.	.	.	.	.	0.45086047	0.58689	T	.	.	.	.	.	.	.	0.456647468687	0.45291	0.8867280223172282	0.88641	.	.	0.398606598377	0.24874	T	0.025436	0.35537	T	0.163225	0.70500	D	-0.00331565	0.70121	D	.	.	.	0.937806	0.78939	D	0.76270866	0.81614	0.69800264	0.82213	0.76270866	0.81615	0.69800264	0.82214	-9.592	0.71430	D	.	.	0.950	0.86857	P	.;.;.	.;.;.	3.454651	0.48119	22.6	0.99707451619795451	0.81074	0.77981	0.38408	D	AEFI	0.799589	0.72581	D	.	.	.	.	.	.	2.3174768173114E-5	0.03498	0.053691	0.00478	0	0.063388	0.01293	0	0.060301	0.00762	0	0.057018	0.00518	0	.	.	3.71	2.86	0.32427	2.765000	0.47304	4.616000	0.44056	0.549000	0.26987	0.378000	0.25989	0.437000	0.24884	0.144000	0.20092	0.0:0.9091:0.0:0.0909	11.418	0.49207	625	0.65529	Alcohol dehydrogenase, N-terminal|Alcohol dehydrogenase, zinc-type, conserved site|Polyketide synthase, enoylreductase domain;Alcohol dehydrogenase, N-terminal|Alcohol dehydrogenase, zinc-type, conserved site;Alcohol dehydrogenase, N-terminal|Alcohol dehydrogenase, zinc-type, conserved site	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3333	34.31	78	chr4	99347057	.	C	G	34.31	.	AC=2;AF=0.333;AN=6;BaseQRankSum=-2.26;DP=490;ExcessHet=0.4139;FS=372.026;MLEAC=3;MLEAF=0.5;MQ=60;MQRankSum=0;QD=0.19;ReadPosRankSum=-0.689;SOR=8.581	GT:AD:DP:GQ:PL	0/1:62,28:90:25:25,0,991	1	0	2	3
chr4	112145690	112145690	C	A	exonic	FAM241A	.	nonsynonymous SNV	FAM241A:NM_152400:exon1:c.C110A:p.A37E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.032	0.143194135475	.	.	0	0	0	0	0	0	0	0	3.84e-05	1	26028	rs748059133	0	1.3e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025	0.47320	D	0.358	0.17064	T	0.004	0.12183	B	0.015	0.17295	B	0.812075	0.09243	U	0.896444	0.954157	0.26379	N	.	.	.	0.66	0.52416	T	-0.27	0.11366	N	0.153	0.15749	-0.9880	0.33102	T	0.096	0.36029	T	10	0.058886558	0.06994	T	0.143194	0.82553	D	0.032	0.07718	0.194	0.10571	0.352048277211	0.34822	0.22163397565385767	0.22078	0.707681733285	0.61507	.	.	.	0.010899	0.09789	T	-0.231402	0.16463	T	-0.57017	0.15434	T	0.186231952032212	0.19620	T	0.49705	0.15447	T	0.067554034	0.14640	0.11685191	0.28208	0.067554034	0.14640	0.11685191	0.28208	-4.4	0.29557	T	.	.	0.086	0.10545	B	.	.	1.820424	0.23134	15.90	0.9869173927802678	0.44766	0.08455	0.14382	N	ALL	0.056908	0.10558	N	-0.67063253532118	0.16862	0.8628127	-0.658042762301028	0.18013	0.9604431	0.999999995928025	0.74766	0.652421	0.48094	0	0.52208	0.09955	0	0.64067	0.45733	0	0.56214	0.19341	0	.	.	3.18	1.33	0.20958	0.343000	0.19686	0.597000	0.19884	0.442000	0.21104	0.007000	0.17678	0.694000	0.26193	0.034000	0.13613	0.2659:0.5956:0.0:0.1385	3.643	0.07715	888	0.27761	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	30.69	5	chr4	112145690	.	C	A	30.69	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.967;DP=21;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.23;ReadPosRankSum=-0.967;SOR=0.223	GT:AD:DP:GQ:PL	0/1:1,2:3:19:40,0,19	5	0	1	0
chr4	112619651	112619651	T	C	exonic	ZGRF1	.	nonsynonymous SNV	ZGRF1:NM_001350397:exon6:c.A391G:p.I131V,ZGRF1:NM_018392:exon6:c.A391G:p.I131V	.	438	1083	1	0	0	1	0.000461467	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.021	0.0236754945227	.	.	8.364e-06	0	8.643e-05	0	0	0	0	0	6.5e-06	1	154602	rs771587143	6.85e-07	6.84e-07	1.363e-06	0	2.259e-05	0	0	.	.	0	2.259e-05	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.539	0.06824	T	0.315	0.19421	T	0.01	0.15535	B	0.013	0.16460	B	0.216707	0.16235	N	0.560041	1	0.08975	N	0.895	0.22405	L	-1.59	0.82076	D	0.06	0.06253	N	0.039	0.01347	-0.8053	0.54831	T	0.366	0.72620	T	10	0.049389124	0.04521	T	0.023675	0.46651	T	0.021	0.04004	0.228	0.15406	0.339074221408	0.33521	0.06189869294429757	0.06129	0.0580188796904	0.06425	.	.	.	0.006302	0.08010	T	-0.171645	0.24985	T	-0.401468	0.33213	T	0.0196208041161299	0.00665	T	0.541546	0.18382	T	0.025969198	0.01596	0.035193373	0.02724	0.025969198	0.01595	0.035193373	0.02724	-3.728	0.19732	T	.	.	0.092	0.13409	B	.;.;.;.	.;.;.;.	-0.185703	0.03164	0.515	0.64018881073498268	0.07379	0.03843	0.09194	N	AEFBI	0.066097	0.12926	N	-0.869746744368732	0.11567	0.5589079	-0.88563653739419	0.12434	0.6395533	1.16508041526477E-5	0.02871	0.706298	0.61202	0	0.601575	0.49859	0	0.709663	0.75317	0	0.655142	0.61905	0	.	.	5.43	1.59	0.22622	-0.199000	0.09493	-1.780000	0.04740	0.609000	0.47794	0.000000	0.06391	0.000000	0.08366	0.730000	0.35099	0.0:0.2735:0.1269:0.5995	5.965	0.18553	831	0.39019	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	349.83	38	chr4	112619651	.	T	C	349.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.42;DP=168;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=16.66;ReadPosRankSum=-0.987;SOR=0.818	GT:AD:DP:GQ:PL	0/1:10,11:21:99:360,0,267	5	0	1	0
chr4	122827093	122827093	-	GGCCGG	exonic	FGF2	.	nonframeshift insertion	FGF2:NM_002006:exon1:c.318_319insGGCCGG:p.G113_T114insRG	.	398	1121	2	1	0	4	0.00178094	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1258501021	0.0002	0.0001	0.0002	0.0002	0.0014	0.0001	0.0001	0.0010	0.0009	0.0002	0	0	9.011e-05	0	0.0004	0.0001	0.0003	0.0014	0.0003	0.0003	0.0003	0.0003	0.0032	0.0002	0.0002	0.0020	0.0016	0.0002	0	0.0003	0	0.0004	0	0.0109	0.0002	0.0005	0.0032	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	64.82	19	chr4	122827093	.	A	AGGCCGG	64.82	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.28;DP=55;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.96;ReadPosRankSum=1.65;SOR=1.609	GT:AD:DP:GQ:PL	0/1:3,2:5:75:75,0,120	5	0	1	0
chr4	123256160	123256160	G	T	exonic	SPATA5	.	nonsynonymous SNV	SPATA5:NM_001345856:exon15:c.G2482T:p.D828Y,SPATA5:NM_145207:exon15:c.G2485T:p.D829Y	Epilepsy, hearing loss, and mental retardation syndrome, Autosomal recessive	434	1061	26	1	0	28	0.0130233	.	.	.	428275	not_provided|not_specified|Microcephaly-intellectual_disability-sensorineural_hearing_loss-epilepsy-abnormal_muscle_tone_syndrome	MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0014698,MedGen:C4225276,OMIM:616577,Orphanet:457351	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.512	.	0.0042	0.0071885	0.0102	0.0021	0.0492	0.0030	0.0023	0.0069	0.0066	0.0086	0.0094759	1465	154602	rs35206443	0.0078	0.0078	0.0080	0.0077	0.0420	0.0077	0.0077	0.0404	0.0397	0.0019	0.0420	0.0084	0.0025	0.0029	0.0198	0.0069	0.0080	0.0091	0.0063	0.0063	0.0065	0.0061	0.0186	0.0060	0.0059	0.0168	0.0161	0.0024	0	0.0186	0.0072	0.0042	0.0027	0.0442	0.0062	0.0118	0.0083	0.001	0.78490	D	0.003	0.76473	D	0.489	0.36925	P	0.313	0.41496	B	0.002152	0.37138	N	0.163302	0.783887	0.29302	N	.	.	.	-3.57	0.94904	D	-5.03	0.82575	D	0.665	0.67391	0.242	0.86605	D	0.638	0.87336	D	10	0.0061918497	0.00139	T	.	.	.	0.512	0.79094	.	.	.	.	0.5655072548150628	0.56477	0.347071527529	0.36602	0.335899531841	0.15823	T	0.229589	0.59544	T	-0.155933	0.27387	T	0.0360934	0.72673	D	0.0574242337123736	0.06757	T	0.956304	0.83415	D	0.71545744	0.78909	0.61800754	0.77756	0.71545744	0.78911	0.61800754	0.77757	-8.504	0.64456	D	0.38576921051272656	0.47959	0.115	0.23005	B	.	.	2.707522	0.35383	19.88	0.81853234395700014	0.13893	0.69723	0.34301	D	AEFDBI	0.118458	0.23162	N	-0.283515088858939	0.29784	1.654859	-0.341584590906976	0.26770	1.480833	0.444252778732634	0.20480	0.693126	0.56070	0	0.633656	0.55848	0	0.659464	0.59346	0	0.655142	0.61905	0	.	.	4.87	3.08	0.34576	1.284000	0.32855	6.572000	0.55971	0.676000	0.76740	0.930000	0.32276	1.000000	0.68203	0.064000	0.16252	0.0:0.4705:0.5295:0.0	15.582	0.76195	127	0.94899	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.014602	0.025253	0.020380	0.011696	0.000000	0.008621	0.003049	0.011364	0.08333	2881.83	34	chr4	123256160	.	G	T	2881.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.74;DP=418;ExcessHet=0;FS=4.552;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.26;ReadPosRankSum=0.193;SOR=1.003	GT:AD:DP:GQ:PL	0/1:119,116:235:99:2892,0,3022	5	0	1	0
chr4	123401734	123401734	G	A	exonic	SPRY1	.	nonsynonymous SNV	SPRY1:NM_001258039:exon2:c.G143A:p.R48K,SPRY1:NM_005841:exon2:c.G143A:p.R48K,SPRY1:NM_199327:exon2:c.G143A:p.R48K,SPRY1:NM_001258038:exon3:c.G143A:p.R48K,SPRY1:NM_001375410:exon3:c.G143A:p.R48K	.	.	.	.	.	.	.	.	.	.	.	2246897	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.209	0.0166781239835	.	0.000199681	4.942e-05	0	0	0	0	1.498e-05	0	0.0003	4.53e-05	7	154602	rs537774102	1.779e-05	1.779e-05	1.77e-05	1.788e-05	0.0003	1.237e-05	1.051e-05	0.0002	0.0001	0	0	0	0	0	0	8.993e-07	4.967e-05	0.0003	1.313e-05	1.312e-05	1.285e-05	1.343e-05	0.0004	2.18e-06	8.2e-07	7.301e-05	3.033e-05	0	0	0	0	0	0	0	0	0	0.0004	0.0	0.91255	D	0.0	0.92824	D	0.956	0.54666	P	0.931	0.66596	D	0.000000	0.84330	D	0.000000	0.999892	0.50595	D	2.885	0.83555	M	0.38	0.57575	T	-3.0	0.62343	D	0.539	0.56662	-0.3388	0.73879	T	0.325	0.69367	T	10	0.3157511	0.49003	T	0.016678	0.38050	T	0.209	0.49871	0.455	0.51938	0.757419263624	0.75521	0.6278242704732523	0.62715	0.0429839041337	0.04634	0.756880640984	0.75465	T	0.261013	0.77552	T	-0.193902	0.21688	T	-0.194337	0.55182	T	0.589395954306395	0.35982	D	0.932107	0.84151	D	0.45846146	0.64575	0.31892696	0.57857	0.45846146	0.64576	0.31892696	0.57856	-3.49	0.16292	T	.	.	0.598	0.68784	P	.;.;.;.;.;.	.;.;.;.;.;.	4.663984	0.74467	26.2	0.99565423209019688	0.72075	0.94194	0.60398	D	AEFDGBCI	0.780006	0.71203	D	0.646648287264665	0.76152	6.434004	0.58766467170754	0.74054	6.072326	0.999999997703445	0.74766	0.67177	0.52595	0	0.588066	0.40923	0	0.702456	0.68683	0	0.636168	0.56350	0	.	.	4.78	3.94	0.44807	6.187000	0.71962	10.803000	0.83796	0.590000	0.31872	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:0.8496:0.1504	14.213	0.65321	240	0.90628	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1024.83	37	chr4	123401734	.	G	A	1024.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.825;DP=273;ExcessHet=0;FS=0.786;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.26;ReadPosRankSum=-0.008;SOR=0.753	GT:AD:DP:GQ:PL	0/1:49,42:91:99:1035,0,1426	5	0	1	0
chr4	124672523	124672523	T	C	exonic	ANKRD50	.	nonsynonymous SNV	ANKRD50:NM_001167882:exon3:c.A217G:p.I73V,ANKRD50:NM_020337:exon4:c.A754G:p.I252V	.	.	.	.	.	.	.	.	.	.	.	3450734	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.146	0.0317257864326	.	0.000199681	0.0002	0	0	0	0	0	0	0.0009	8.41e-05	13	154602	rs551945003	4.328e-05	4.652e-05	1.94e-05	6.75e-05	0.0007	3.445e-05	3.127e-05	0.0006	0.0005	0	0	0	0	0	0	9.087e-07	3.379e-05	0.0007	3.287e-05	3.282e-05	1.286e-05	5.38e-05	0.0010	1.261e-05	7.98e-06	0.0004	0.0003	0	0	0	0	0	0	0	0	0	0.0010	0.118	0.28148	T	0.029	0.54541	D	0.473	0.36591	P	0.112	0.31615	B	0.000000	0.84330	D	0.000000	0.999996	0.58761	D	1.735	0.44892	L	-0.55	0.71307	T	-0.43	0.14390	N	0.415	0.45520	-0.5703	0.66003	T	0.258	0.62811	T	10	0.08559653	0.14465	T	0.031726	0.53738	D	0.146	0.38789	0.361	0.36548	0.557458292061	0.55406	0.22764843364260415	0.22679	0.493726229399	0.47964	0.843168735504	0.88577	D	0.033267	0.22843	T	-0.253542	0.13667	T	-0.230887	0.51686	T	0.126077327896809	0.15015	T	0.941706	0.78979	D	0.09059215	0.21204	0.09292059	0.21923	0.09059215	0.21204	0.09292059	0.21923	-5.556	0.45698	T	.	.	0.283	0.51609	B	.;.	.;.	3.137010	0.42413	21.5	0.98332551494680087	0.40358	0.98561	0.84110	D	AEBI	0.630145	0.61159	D	0.209382027575017	0.51653	3.344926	0.328453274089944	0.57217	3.886761	0.999999997306627	0.74766	0.706298	0.61202	0	0.588015	0.36545	0	0.709663	0.75317	0	0.711	0.71501	0	.	.	5.49	5.49	0.81022	5.561000	0.67042	6.154000	0.54239	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.980000	0.58198	0.0:0.0:0.0:1.0	15.760	0.77839	933	0.16026	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	509.83	30	chr4	124672523	.	T	C	509.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.202;DP=181;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=15.93;ReadPosRankSum=-0.384;SOR=0.602	GT:AD:DP:GQ:PL	0/1:13,19:32:99:520,0,367	5	0	1	0
chr4	140563137	140563137	C	G	exonic	UCP1	.	nonsynonymous SNV	UCP1:NM_021833:exon4:c.G601C:p.A201P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.377	0.0293953235492	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.759e-05	0.0002	3.296e-05	2.218e-05	3.267e-05	2.08e-05	1.831e-05	2.392e-05	2.122e-05	3.018e-05	0	0	0	0	0	3.267e-05	1.667e-05	2.335e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.176	0.22312	T	0.203	0.27325	T	0.949	0.53761	P	0.761	0.56482	P	0.008935	0.30598	N	0.367111	1	0.08975	N	3.205	0.89189	M	-1.23	0.78860	T	-2.05	0.47008	N	0.643	0.65501	-0.4766	0.69490	T	0.493	0.80757	T	10	0.76555115	0.76675	D	0.029395	0.51914	D	0.377	0.69527	0.425	0.47021	0.867737003841	0.86645	0.8997779227898309	0.89949	0.733378337434	0.62839	0.275326251984	0.06849	T	0.503659	0.82306	D	0.0583213	0.59402	T	-0.154002	0.58889	T	0.917825281620026	0.57582	D	0.40366	0.10339	T	0.28733265	0.51744	0.26873308	0.52745	0.28733265	0.51744	0.26873308	0.52744	-7.449	0.57250	T	.	.	0.826	0.78531	P	.	.	2.363669	0.30321	18.40	0.99216242249267406	0.55747	0.70984	0.34819	D	AEFBI	0.260905	0.37897	N	-0.150634784784455	0.35206	2.019386	-0.344403961495631	0.26682	1.475416	0.680793574183654	0.22476	0.615465	0.37627	0	0.547309	0.14657	0	0.658983	0.55881	0	0.542086	0.14980	0	.	.	5.22	0.338	0.15214	1.750000	0.37956	-0.150000	0.11428	-0.176000	0.10722	0.930000	0.32276	0.000000	0.08366	0.270000	0.23768	0.1804:0.289:0.0:0.5306	3.693	0.07887	940	0.13648	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	934.55	65	chr4	140563137	.	C	G	934.55	.	AC=6;AF=0.5;AN=12;BaseQRankSum=-2.76;DP=431;ExcessHet=11.5949;FS=323.709;MLEAC=6;MLEAF=0.5;MQ=60;MQRankSum=0;QD=2.43;ReadPosRankSum=-0.33;SOR=8.104	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:34,15:51:99:.:.:181,0,1042:.	0	0	6	0
chr4	140563138	140563138	C	G	exonic	UCP1	.	nonsynonymous SNV	UCP1:NM_021833:exon4:c.G600C:p.E200D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.090	0.0146202776725	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.847e-07	2.052e-06	1.362e-06	0	8.997e-07	0	0	.	.	0	0	0	0	0	0	8.997e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.631	0.05137	T	0.791	0.04181	T	0.004	0.12183	B	0.007	0.12992	B	0.003241	0.35241	N	0.324932	0.999999	0.08975	N	0.56	0.15190	N	-1.27	0.79277	T	-0.52	0.16187	N	0.133	0.12913	-1.0108	0.26666	T	0.158	0.49027	T	10	0.05424103	0.05744	T	0.01462	0.34856	T	0.090	0.26093	0.368	0.37687	0.494433119893	0.49078	0.5936266468194845	0.59292	0.149167586053	0.16817	0.271067947149	0.06281	T	0.121596	0.44467	T	-0.194226	0.21639	T	-0.516769	0.20622	T	0.0746878460049629	0.09294	T	0.60264	0.22576	T	0.06687306	0.14429	0.04191142	0.04870	0.06687306	0.14429	0.04191142	0.04870	-4.395	0.29489	T	.	.	0.106	0.19720	B	.	.	0.547365	0.09157	5.942	0.36715842428115708	0.02377	0.06566	0.12580	N	AEFBI	0.061408	0.11738	N	-1.30471918549485	0.03621	0.1620578	-1.29537821251235	0.04493	0.2120394	0.729658486604041	0.23029	0.554377	0.28877	0	0.547309	0.14657	0	0.602189	0.34648	0	0.542086	0.14980	0	.	.	5.22	-1.38	0.08554	-1.260000	0.02967	-2.964000	0.03187	-0.218000	0.08083	0.004000	0.16614	0.000000	0.08366	0.312000	0.24784	0.2442:0.2523:0.3582:0.1453	2.216	0.03717	940	0.13648	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	969.55	63	chr4	140563138	.	C	G	969.55	.	AC=6;AF=0.5;AN=12;BaseQRankSum=-1.563;DP=431;ExcessHet=11.5949;FS=374.425;MLEAC=6;MLEAF=0.5;MQ=60;MQRankSum=0;QD=2.57;ReadPosRankSum=-0.184;SOR=9.608	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:37,15:52:99:.:.:181,0,1091:.	0	0	6	0
chr4	143187879	143187879	C	T	exonic	USP38	.	nonsynonymous SNV	USP38:NM_001290325:exon2:c.C736T:p.L246F,USP38:NM_032557:exon2:c.C736T:p.L246F	.	429	1092	1	0	0	1	0.000457666	.	.	.	4094049	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.061	0.0224088172508	.	.	.	.	.	.	.	.	.	.	.	.	.	rs866210305	4.79e-06	4.788e-06	2.723e-06	6.877e-06	2.988e-05	1.99e-06	1.28e-06	8.4e-07	5.7e-07	2.988e-05	0	0	0	1.873e-05	0	3.598e-06	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.022	0.48642	D	0.044	0.63918	D	0.992	0.64738	D	0.839	0.60107	P	0.000292	0.46274	D	0.085998	0.999878	0.50225	D	2.045	0.56016	M	0.96	0.42888	T	-1.86	0.45404	N	0.612	0.62866	-0.8257	0.53575	T	0.176	0.51974	T	10	0.37747425	0.53942	T	0.022409	0.45296	T	0.061	0.17616	0.22	0.14224	0.500488203797	0.49686	0.3439566903169494	0.34309	0.546934130114	0.51673	0.686873555183	0.65256	T	0.094569	0.39443	T	-0.0994531	0.36516	T	-0.380634	0.35647	T	0.889133751392365	0.53981	D	0.907509	0.67274	D	0.36581692	0.58274	0.19834225	0.43661	0.36581692	0.58274	0.19834225	0.43660	-5.996	0.46313	T	.	.	0.355	0.56869	A	.;.	.;.	5.547942	0.92026	32	0.99896275182867555	0.96895	0.77735	0.38256	D	AEFDGBI	0.195049	0.32210	N	0.526762337247954	0.68678	5.250319	0.514711539352014	0.68979	5.295355	0.999995595108857	0.74766	0.627647	0.40530	0	0.672317	0.65289	0	0.731467	0.93227	0	0.657601	0.63696	0	.	.	5.2	4.35	0.51454	2.235000	0.42690	4.870000	0.45558	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.719:0.0:0.281	7.025	0.24113	803	0.44167	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1667	1424.06	38	chr4	143187879	.	C	T	1424.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=1.37;DP=338;ExcessHet=0.4139;FS=3.388;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=7.23;ReadPosRankSum=0.783;SOR=0.725	GT:AD:DP:GQ:PL	0/1:73,34:107:99:613,0,1857	4	0	2	0
chr4	146639305	146639305	-	GGCGGC	exonic	POU4F2	.	nonframeshift insertion	POU4F2:NM_004575:exon1:c.165_166insGGCGGC:p.G68_R69insGG	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001921	5	26028	rs530695040	0.0051	0.0045	0.0051	0.0051	0.0084	0.0050	0.0050	0.0078	0.0075	0.0019	0.0022	0.0018	0.0041	0.0017	0.0055	0.0052	0.0061	0.0084	0.0040	0.0041	0.0041	0.0040	0.0122	0.0038	0.0037	0.0096	0.0087	0.0020	0.0281	0.0051	0.0026	0.0050	0.0006	0	0.0047	0.0025	0.0122	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	8349.33	49	chr4	146639305	.	T	TGGCGGC	8349.33	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.648;DP=288;ExcessHet=0;FS=1.939;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=28.39;ReadPosRankSum=0.816;SOR=1.385	GT:AD:DP:GQ:PL	0/1:3,13:28:99:994,377,434	5	0	1	0
chr4	154270010	154270010	G	A	exonic	DCHS2	.	nonsynonymous SNV	DCHS2:NM_001358235:exon14:c.C6467T:p.T2156I	.	13	1476	33	0	0	33	0.0110553	.	.	.	3210773	DCHS2-related_disorder	.	no_assertion_criteria_provided	Benign	.	.	.	.	.	.	.	.	0.239	.	0.0018	0.0071885	0.0061	0.0004	0.0012	0.0005	0.0005	0.0022	0.0112	0.0337	0.0053557	828	154602	rs146032523	0.0040	0.0040	0.0031	0.0048	0.0352	0.0039	0.0038	0.0342	0.0337	0.0004	0.0017	0.0003	0.0002	0.0008	0.0091	0.0021	0.0042	0.0352	0.0025	0.0025	0.0021	0.0028	0.0357	0.0023	0.0022	0.0313	0.0296	0.0003	0.0208	0.0013	0	0.0004	9.468e-05	0	0.0021	0.0033	0.0357	.	.	.	.	.	.	.	.	.	.	.	.	0.000110	0.50451	D	0.080919	0.951162	0.37727	D	.	.	.	.	.	.	.	.	.	.	.	-0.6460	0.62887	T	0.226	0.59007	T	10	0.006926775	0.00157	T	.	.	.	0.239	0.54358	.	.	.	.	0.4371462445025686	0.43631	0.421972331622	0.42701	0.428028941154	0.28939	T	.	.	.	-0.315099	0.07307	T	-0.198234	0.54814	T	0.051825111248953	0.05817	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.171	0.37577	B	.	.	3.602285	0.50884	23.0	0.99540912594671249	0.70523	0.75788	0.37126	D	AEFI	0.170320	0.29722	N	0.240908584627223	0.53192	3.489131	0.180325613610028	0.48768	3.088515	1.91105380058075E-4	0.05898	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	5.55	3.78	0.42629	2.683000	0.46609	6.501000	0.55783	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.819000	0.38590	0.0806:0.1454:0.774:0.0	9.152	0.36131	683	0.59664	Cadherin-like	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.007553	0.000000	0.004076	0.023392	0.050000	0.000000	0.006098	0.007576	0.08333	459.83	33	chr4	154270010	.	G	A	459.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.677;DP=222;ExcessHet=0;FS=4.307;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.22;ReadPosRankSum=0.322;SOR=1.387	GT:AD:DP:GQ:PL	0/1:26,19:45:99:470,0,614	5	0	1	0
chr4	176162121	176162121	G	A	exonic	WDR17	.	nonsynonymous SNV	WDR17:NM_001378105:exon20:c.G2632A:p.D878N,WDR17:NM_001378106:exon20:c.G2632A:p.D878N,WDR17:NM_001378104:exon21:c.G2797A:p.D933N,WDR17:NM_181265:exon21:c.G2797A:p.D933N,WDR17:NM_001350727:exon22:c.G2869A:p.D957N,WDR17:NM_001378103:exon22:c.G2869A:p.D957N,WDR17:NM_170710:exon22:c.G2869A:p.D957N	.	432	1086	4	0	0	4	0.00183824	.	.	.	2820282	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.121	0.0157253066431	0.0035	0.00159744	0.0028	0.0006	0.0009	0	0.0021	0.0043	0	0.0015	0.0027749	429	154602	rs148579014	0.0043	0.0044	0.0045	0.0042	0.0050	0.0043	0.0042	0.0049	0.0049	0.0004	0.0007	0.0035	0	0.0030	0.0005	0.0050	0.0046	0.0021	0.0026	0.0026	0.0026	0.0027	0.0044	0.0024	0.0023	0.0040	0.0038	0.0008	0	0.0007	0.0040	0	0.0025	0	0.0044	0.0005	0.0033	0.123	0.28271	T	0.26	0.23638	T	0.77	0.43887	P	0.411	0.44827	B	0.000021	0.55875	D	0.112987	0.999999	0.58761	D	2.175	0.60977	M	0.38	0.58176	T	-0.72	0.22078	N	0.534	0.56231	-0.5886	0.65276	T	0.282	0.65369	T	10	0.012596369	0.00270	T	0.015725	0.36624	T	0.159	0.41286	.	.	0.922754311206	0.92196	0.4543130370410806	0.45349	0.169914134058	0.19155	0.486896038055	0.37008	T	0.011125	0.09967	T	-0.407081	0.02079	T	-0.357527	0.38338	T	0.0411153845724279	0.03892	T	0.917608	0.70392	D	0.09502753	0.22355	0.08986318	0.21039	0.09502753	0.22355	0.08986318	0.21039	-7.734	0.59244	D	.	.	0.120	0.24867	B	.;.;.	.;.;.	3.803540	0.54822	23.5	0.99894746160900372	0.96819	0.98798	0.86991	D	AEFGI	0.891130	0.82680	D	0.540976914631386	0.69535	5.37067	0.624344427918629	0.76712	6.541862	0.999999999935801	0.74766	0.638212	0.43195	0	0.573888	0.26702	0	0.653264	0.51672	0	0.564101	0.26826	0	.	.	5.72	5.72	0.89380	8.974000	0.93007	9.757000	0.81495	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.611000	0.31665	0.0:0.0:1.0:0.0	19.862	0.96784	970	0.06235	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.1667	975.06	50	chr4	176162121	.	G	A	975.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=0.759;DP=264;ExcessHet=0.4139;FS=1.537;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=8.26;ReadPosRankSum=-0.212;SOR=0.54	GT:AD:DP:GQ:PL	0/1:41,27:68:99:616,0,1035	4	0	2	0
chr4	185431981	185431981	G	T	splicing	C4orf47	NM_001114357:exon2:c.101-1G>T	.	.	.	435	1085	2	0	0	2	0.00092081	1.0000	0.946	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0015	0	0	0	0.0043	0.0023	0	0.0005	0.0004981	77	154602	rs199811696	0.0022	0.0021	0.0022	0.0022	0.0024	0.0021	0.0021	0.0023	0.0023	0.0004	0.0004	0	0	0.0051	0.0007	0.0024	0.0015	0.0006	0.0020	0.0021	0.0022	0.0019	0.0033	0.0019	0.0018	0.0030	0.0028	0.0004	0	0.0008	0	0	0.0051	0	0.0033	0.0009	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0384784	0.56847	T	0.283036	0.87288	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.	.;.;.	5.325442	0.89380	30	0.99551436579381158	0.71148	0.97667	0.76276	D	AEFI	.	.	.	1.14232583742614	0.98844	19.58968	0.986511874353867	0.98349	18.03835	0.999999991350419	0.74766	0.162113	0.03585	0	0.18701	0.04157	0	0.078618	0.02440	0	0.057018	0.00518	0	0.986797	0.95047	5.27	5.27	0.73797	7.668000	0.82869	9.770000	0.81549	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.990000	0.65344	0.0:0.0:1.0:0.0	18.483	0.90769	932	0.16191	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	372.83	20	chr4	185431981	.	G	T	372.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.211;DP=148;ExcessHet=0;FS=1.293;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=9.81;ReadPosRankSum=-0.503;SOR=0.446	GT:AD:DP:GQ:PL	0/1:22,16:38:99:383,0,561	5	0	1	0
chr4	185458801	185458801	G	T	exonic	CCDC110	.	nonsynonymous SNV	CCDC110:NM_001145411:exon5:c.C1675A:p.L559I,CCDC110:NM_152775:exon6:c.C1786A:p.L596I	.	870	651	1	0	0	1	0.00076746	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.082	0.0101978936003	0.0017	.	0.0019	0.0002	0.0003	0	0.0055	0.0028	0.0011	0.0004	0.0018046	279	154602	rs34739951	0.0017	0.0017	0.0017	0.0017	0.0019	0.0017	0.0016	0.0018	0.0018	0.0003	0.0004	0	0	0.0048	0.0007	0.0019	0.0014	0.0004	0.0016	0.0016	0.0017	0.0015	0.0023	0.0014	0.0014	0.0020	0.0019	0.0004	0	0.0009	0	0	0.0051	0.0103	0.0023	0.0014	0	0.088	0.34269	T	0.196	0.27943	T	0.973	0.57599	D	0.73	0.55268	P	0.097662	0.20016	N	0.359994	1	0.08975	N	2.595	0.75868	M	1.42	0.33189	T	-0.52	0.16799	N	0.355	0.39659	-1.0478	0.15016	T	0.089	0.34216	T	10	0.006053984	0.00136	T	0.010198	0.26456	T	0.082	0.23913	.	.	0.173771789658	0.16945	0.07411402741532032	0.07348	0.45845590994	0.45458	0.414809584618	0.27122	T	0.005224	0.15260	T	-0.530908	0.00379	T	-0.539067	0.18389	T	0.0277346997257988	0.01649	T	0.776122	0.40827	T	0.048422784	0.08436	0.04904962	0.07414	0.048422784	0.08435	0.04904962	0.07414	-3.989	0.23639	T	.	.	0.088	0.13362	B	.;.;.	.;.;.	1.622276	0.20720	14.88	0.98725095905510241	0.45259	0.03545	0.08742	N	AEFI	0.045571	0.07468	N	-0.0286496072383525	0.40562	2.410871	-0.148985467089346	0.33447	1.913366	0.992643380137893	0.32916	0.554377	0.28877	0	0.541556	0.11502	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	5.55	1.59	0.22622	0.063000	0.14285	2.471000	0.32897	0.676000	0.76740	0.052000	0.21487	1.000000	0.68203	0.828000	0.39026	0.1604:0.2481:0.4092:0.1823	1.839	0.02955	944	0.12746	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	791.83	42	chr4	185458801	.	G	T	791.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-3.733;DP=250;ExcessHet=0;FS=3.951;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=15.23;ReadPosRankSum=0.686;SOR=0.307	GT:AD:DP:GQ:PL	0/1:22,30:52:99:802,0,659	5	0	1	0
chr4	189957425	189957425	A	G	exonic	FRG1	.	nonsynonymous SNV	FRG1:NM_004477:exon6:c.A460G:p.S154G	.	1	846	675	0	0	675	0.285171	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.185	0.011311376018	.	.	.	.	.	.	.	.	.	.	.	.	.	rs189762674	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.05061	T	1.0	0.03232	T	0.047	0.21998	B	0.081	0.28987	B	0.000000	0.84330	D	0.000000	0.999996	0.58761	D	.	.	.	2.6	0.41750	T	0.43	0.08971	N	0.459	0.49602	-1.0801	0.07330	T	0.058	0.24391	T	10	0.2421839	0.41410	T	0.011311	0.28804	T	0.185	0.45933	0.71	0.84601	0.556105722742	0.55269	0.4529120959340938	0.45209	0.26085393997	0.28643	0.762159407139	0.76251	T	0.040046	0.25396	T	0.00380976	0.52179	T	-0.232304	0.51549	T	0.277109354734421	0.24049	T	.	.	.	0.28638732	0.51655	0.3411275	0.59856	0.28638732	0.51655	0.3411275	0.59855	-6.244	0.48277	T	.	.	0.080	0.07937	B	.;.;.	.;.;.	3.090452	0.41606	21.4	0.25288622774737562	0.01159	0.90585	0.51883	D	AEDGBI	0.513229	0.54111	D	-0.436064510326238	0.24215	1.305949	-0.265167819402356	0.29255	1.637516	0.999920515020144	0.46280	0.706548	0.73137	0	0.724815	0.89359	0	0.644132	0.48003	0	0.683672	0.66515	0	.	.	4.19	4.19	0.48645	5.243000	0.65217	7.387000	0.58489	-0.212000	0.08331	1.000000	0.71638	1.000000	0.68203	0.404000	0.26872	1.0:0.0:0.0:0.0	11.575	0.50111	991	0.01385	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.25	306.08	90	chr4	189957425	.	A	G	306.08	.	AC=3;AF=0.25;AN=12;BaseQRankSum=-0.484;DP=465;ExcessHet=1.383;FS=2.032;MLEAC=3;MLEAF=0.25;MQ=47.23;MQRankSum=-0.269;QD=1.24;ReadPosRankSum=-0.094;SOR=0.908	GT:AD:DP:GQ:PL	0/1:78,17:95:99:156,0,2280	3	0	3	0
chr5	840546	840546	A	G	exonic	ZDHHC11	.	nonsynonymous SNV	ZDHHC11:NM_024786:exon5:c.T733C:p.F245L	.	396	1053	73	0	0	73	0.0335016	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.099	0.00104621411682	.	.	0.0014	0.0052	0.0006	0.0024	0	0.0009	0.0033	0.0016	1.29e-05	2	154602	rs201008730	0.0002	0.0040	0.0002	0.0002	0.0021	0.0002	0.0002	0.0012	0.0010	0.0003	0.0004	3.833e-05	0.0005	1.883e-05	0.0021	0.0002	0.0004	0.0005	0.0008	0.0098	0.0009	0.0007	0.0031	0.0007	0.0006	0.0019	0.0015	0.0017	0	0.0005	0	0.0031	0	0	0.0003	0.0020	0.0008	1.0	0.10802	T	1.0	0.01155	T	0.0	0.02946	B	0.002	0.06944	B	.	.	.	.	1	0.08975	N	0.09	0.08384	N	1.96	0.38556	T	1.6	0.33197	N	0.112	0.09914	-1.0577	0.12337	T	0.035	0.15074	T	9	0.0083985925	0.00191	T	0.001046	0.01167	T	0.099	0.28413	0.536	0.64585	0.149567049428	0.14543	0.32164779350983813	0.32077	0.066022613777	0.07365	0.213868185878	0.00987	T	0.002805	0.02196	T	-0.181055	0.23578	T	-0.49785	0.22571	T	0.00374376377463194	0.00040	T	0.242976	0.05020	T	0.03805676	0.04996	0.03860824	0.03767	0.03805676	0.04996	0.03860824	0.03767	-0.686	0.01569	T	.	.	0.157	0.42678	B	.;.;.	.;.;.	-1.027763	0.00732	0.022	0.082392823127223083	0.00061	0.00186	0.01083	N	AEFDGBI	0.019948	0.00741	N	-2.1408184491181	0.00104	0.004452357	-2.2138367864308	0.00104	0.004581189	0.998039345530398	0.36340	0.695654	0.57023	0	0.588066	0.40923	0	0.723109	0.80598	0	0.604944	0.38103	0	.	.	2.74	-5.47	0.02396	-0.923000	0.04109	-7.847000	0.01075	-0.595000	0.04637	0.000000	0.06391	0.000000	0.08366	0.065000	0.16320	0.0968:0.231:0.1463:0.5259	3.145	0.06079	946	0.12043	Palmitoyltransferase, DHHC domain;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.013904	0.043210	0.009537	0.004202	0.000000	0.008621	0.023649	0.004065	0.1667	86.06	43	chr5	840546	.	A	G	86.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=1.14;DP=882;ExcessHet=0.4139;FS=8.623;MLEAC=2;MLEAF=0.167;MQ=58.52;MQRankSum=-13.13;QD=0.12;ReadPosRankSum=-1.758;SOR=1.961	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:487,38:525:40:0|1:840529_G_C:40,0,19826:840529	4	0	2	0
chr5	37226756	37226756	T	G	exonic	CPLANE1	.	nonsynonymous SNV	CPLANE1:NM_001384732:exon12:c.A1839C:p.K613N,CPLANE1:NM_023073:exon12:c.A1839C:p.K613N	.	9	1512	1	0	0	1	0.000330579	.	.	.	264270	Joubert_syndrome_17|Orofaciodigital_syndrome_type_6|not_specified|not_provided	MONDO:MONDO:0013824,MedGen:C3553264,OMIM:614615,Orphanet:475|MONDO:MONDO:0010176,MedGen:C2745997,OMIM:277170,Orphanet:2754|MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.480	0.189315097722	.	0.000399361	4.723e-05	0	0	0	0	0.0001	0	0	1.94e-05	3	154602	rs533310477	6.615e-05	6.499e-05	5.67e-05	7.589e-05	0.0103	5.495e-05	5.093e-05	0.0082	0.0074	9.662e-05	0.0001	0	0	0	0.0103	1.581e-05	0.0001	1.293e-05	7.221e-05	7.217e-05	5.139e-05	9.397e-05	7.351e-05	3.968e-05	3.125e-05	2.847e-05	1.858e-05	0	0	0	0	0	0	0.0136	7.351e-05	0.0009	0	0.007	0.59928	D	0.017	0.60337	D	.	.	.	.	.	.	0.007455	0.31390	U	0.269718	1	0.81001	D	.	.	.	-5.05	0.98611	D	-2.32	0.51478	N	0.167	0.20262	0.931	0.96120	D	0.943	0.98119	D	10	0.09267226	0.16338	T	0.189315	0.86055	D	0.480	0.77077	0.435	0.48664	0.651281849334	0.64838	0.09473945657239558	0.09405	0.202201291181	0.22641	.	.	.	0.038421	0.24832	T	-0.145554	0.29010	T	-0.177555	0.56748	T	0.241197556257248	0.22475	T	0.574643	0.20620	T	0.18983264	0.40542	0.15193936	0.35768	0.18983264	0.40542	0.15193936	0.35768	-3.447	0.15697	T	0.5699935962261324	0.63722	0.203	0.42735	B	.;.	.;.	2.528626	0.32689	19.12	0.99775170740127506	0.86260	0.72603	0.35531	D	AEFGBCI	0.239636	0.36156	N	0.176771883269741	0.50086	3.201991	0.0688169945198818	0.42992	2.610201	0.302255793433614	0.19201	0.554377	0.28877	0	0.588066	0.40923	0	0.573888	0.23631	0	0.528226	0.09195	0	.	.	5.26	1.51	0.22094	0.107000	0.15212	-0.071000	0.12298	0.609000	0.47794	0.995000	0.38783	0.880000	0.27694	0.928000	0.46473	0.1335:0.2206:0.0:0.6458	4.427	0.10935	153	0.93993	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1405.83	34	chr5	37226756	.	T	G	1405.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.02;DP=274;ExcessHet=0;FS=0.768;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.8;ReadPosRankSum=0.745;SOR=0.808	GT:AD:DP:GQ:PL	0/1:46,49:95:99:1416,0,1168	5	0	1	0
chr5	41018729	41018729	C	T	exonic	MROH2B	.	nonsynonymous SNV	MROH2B:NM_173489:exon26:c.G2635A:p.D879N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.062	0.00473605389177	.	.	.	.	.	.	.	.	.	.	.	.	.	rs866059852	6.842e-07	6.84e-07	0	1.375e-06	2.237e-05	0	0	.	.	0	2.237e-05	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.72	0.09101	T	0.086	0.42086	T	0.047	0.21998	B	0.027	0.21085	B	0.044500	0.23633	N	0.406160	0.880347	0.28060	N	1.735	0.44892	L	3.58	0.04594	T	0.83	0.01787	N	0.332	0.38027	-1.0315	0.19970	T	0.014	0.05369	T	10	0.11627835	0.21931	T	0.004736	0.11784	T	0.062	0.17934	0.3	0.26683	0.0138822411134	0.00435	0.23352709546050793	0.23267	0.0215625781638	0.02143	0.424171298742	0.28411	T	0.012406	0.10910	T	-0.440778	0.01280	T	-0.788058	0.02218	T	0.200092896819115	0.20421	T	0.679032	0.28770	T	0.057842333	0.11563	0.042497877	0.05076	0.057842333	0.11562	0.042497877	0.05076	-3.18	0.12238	T	.	.	0.075	0.05756	B	.;.	.;.	1.940528	0.24650	16.47	0.93316983407349552	0.23036	0.47991	0.28107	N	AEFI	0.052238	0.09307	N	-0.223084903933514	0.32188	1.812611	-0.0774773868188066	0.36324	2.112405	0.113339460276674	0.16706	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	5.96	3.86	0.43689	0.652000	0.24573	0.792000	0.21577	0.599000	0.40250	0.986000	0.36153	0.996000	0.32793	0.737000	0.35335	0.0:0.809:0.0:0.191	9.098	0.35815	493	0.76500	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	636.83	36	chr5	41018729	.	C	T	636.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.23;DP=244;ExcessHet=0;FS=3.741;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.44;ReadPosRankSum=-1.329;SOR=1.238	GT:AD:DP:GQ:PL	0/1:37,24:61:99:647,0,975	5	0	1	0
chr5	42808319	42808319	C	A	exonic	SELENOP	.	unknown	UNKNOWN	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.248	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.674e-07	3.42e-06	0	1.552e-06	9.662e-07	0	0	.	.	0	0	0	0	0	0	9.662e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.012	0.63918	D	.	.	.	.	.	.	0.008705	0.30705	U	0.145102	0.997898	0.44295	D	2.255	0.64187	M	2.15	0.51228	T	-2.08	0.60029	N	0.336	0.37717	-0.5404	0.67148	T	0.267	0.63844	T	8	0.69742894	0.72232	D	.	.	.	0.248	0.55615	0.84	0.94602	0.521917627825	0.51837	.	.	0.376880899856	0.39126	0.73501265049	0.72239	T	0.42424	0.77474	T	-0.0388432	0.46122	T	-0.293572	0.45399	T	0.976471185684204	0.71396	D	0.688631	0.29780	T	0.5600027	0.70510	0.49249065	0.70643	0.5600027	0.70512	0.49249065	0.70644	.	.	.	.	.	.	.	.	.;.;.;.;.;.	.;.;.;.;.;.	4.786642	0.77637	26.7	0.9907507968977789	0.51810	0.94049	0.59959	D	AEFDGBHCI	.	.	.	0.425111135305392	0.62807	4.502823	0.473323609690473	0.66227	4.924803	0.999999999999999	0.74766	0.743674	0.98306	0	0.588066	0.40923	0	0.630245	0.45026	0	0.564101	0.26826	0	.	.	5.29	5.29	0.74430	3.756000	0.54917	7.605000	0.61698	0.594000	0.32500	1.000000	0.71638	1.000000	0.68203	0.921000	0.45669	0.0:1.0:0.0:0.0	18.571	0.91088	445	0.79730	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.25	69.49	63	chr5	42808319	.	C	A	69.49	.	AC=1;AF=0.25;AN=4;BaseQRankSum=-0.598;DP=231;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.93;ReadPosRankSum=0.598;SOR=0.446	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:4,3:7:75:0|1:42808319_C_A:75,0,116:42808319	1	0	1	4
chr5	42808325	42808325	G	C	exonic	SELENOP	.	unknown	UNKNOWN	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.148	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.68238	D	0.025	0.56192	D	.	.	.	.	.	.	0.021720	0.26779	U	0.175689	0.740556	0.33817	D	2.215	0.62545	M	2.19	0.51474	T	-1.5	0.39119	N	0.308	0.34767	-0.4169	0.71491	T	0.225	0.58919	T	8	0.35128468	0.51982	T	.	.	.	0.148	0.39182	0.637	0.77361	0.382087116544	0.37822	.	.	0.274342641253	0.29928	0.550754189491	0.45964	T	0.146814	0.48460	T	-0.0411036	0.45786	T	-0.296819	0.45059	T	0.964690029621124	0.67033	D	0.728327	0.34315	T	0.1908938	0.40694	0.19818673	0.43639	0.1908938	0.40694	0.19818673	0.43638	.	.	.	.	.	.	.	.	.;.;.;.;.;.	.;.;.;.;.;.	4.427682	0.68635	25.3	0.99778525753233382	0.86519	0.93884	0.59470	D	AEFDGBHCI	.	.	.	0.440220700409987	0.63651	4.602932	0.493578302580959	0.67562	5.100875	0.999999999998734	0.74766	0.743674	0.98306	0	0.588066	0.40923	0	0.630245	0.45026	0	0.564101	0.26826	0	.	.	5.29	5.29	0.74430	3.908000	0.56068	7.428000	0.58769	0.671000	0.69459	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.0778:0.0:0.9222:0.0	13.303	0.59770	445	0.79730	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	58.73	60	chr5	42808325	.	G	C	58.73	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.842;DP=125;ExcessHet=0;FS=9.901;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=9.79;ReadPosRankSum=1.83;SOR=3.611	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:4,2:6:68:0|1:42808319_C_A:68,0,119:42808319	5	0	1	0
chr5	50428224	50428224	G	A	exonic	EMB	.	nonsynonymous SNV	EMB:NM_198449:exon2:c.C116T:p.S39L	.	436	1080	5	1	0	7	0.00323027	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.069	.	0.0035	0.00159744	0.0038	0.0009	0.0030	0	0.0147	0.0045	0.0011	0.0008	0.0038486	595	154602	rs147510643	0.0045	0.0046	0.0045	0.0045	0.0049	0.0044	0.0044	0.0048	0.0048	0.0009	0.0027	0.0006	0	0.0131	0.0016	0.0049	0.0033	0.0009	0.0045	0.0045	0.0038	0.0053	0.0055	0.0042	0.0041	0.0050	0.0048	0.0013	0	0.0029	0	0	0.0186	0	0.0055	0.0052	0.0008	0.163	0.23450	T	0.026	0.55759	D	0.052	0.22494	B	0.003	0.08700	B	0.786531	0.09430	N	0.882556	1	0.24881	N	0.345	0.11182	N	0.76	0.57100	T	-0.61	0.18042	N	0.266	0.32591	-1.0417	0.16800	T	0.074	0.29992	T	9	0.0028268099	0.00045	T	.	.	.	0.069	0.20116	.	.	0.332386209738	0.32853	0.5027389072733729	0.50195	0.281622849585	0.30635	0.441197484732	0.30740	T	0.050916	0.28731	T	-0.55164	0.00285	T	-0.559055	0.16465	T	0.0139289766706949	0.00266	T	0.50265	0.15781	T	0.03727929	0.04748	0.06745644	0.13957	0.03727929	0.04748	0.06745644	0.13956	-3.493	0.16334	T	.	.	0.090	0.18828	B	.;.	.;.	1.364660	0.17740	13.34	0.88639469207132471	0.18136	0.10194	0.15768	N	AEFDBI	0.086520	0.17542	N	-1.05553689277862	0.07479	0.3475867	-1.01151927232117	0.09531	0.4747319	0.99998990671297	0.51787	0.706298	0.61202	0	0.633656	0.55848	0	0.709663	0.75317	0	0.564101	0.26826	0	.	.	4.75	3.87	0.43823	1.828000	0.38750	2.209000	0.31352	-0.104000	0.15758	0.073000	0.22155	0.503000	0.25215	0.933000	0.47100	0.0902:0.0:0.9098:0.0	12.105	0.53108	786	0.46839	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003021	0.000000	0.004076	0.002924	0.000000	0.000000	0.003049	0.003788	0.1667	1480.04	35	chr5	50428224	.	G	A	1480.04	.	AC=2;AF=0.167;AN=12;DP=221;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;QD=31.49;SOR=1.659	GT:AD:DP:GQ:PL	1/1:0,47:47:99:1500,141,0	5	1	0	0
chr5	55124931	55124931	A	G	exonic	CDC20B	.	nonsynonymous SNV	CDC20B:NM_001145734:exon9:c.T1087C:p.W363R,CDC20B:NM_001170402:exon9:c.T1087C:p.W363R,CDC20B:NM_152623:exon9:c.T1087C:p.W363R	.	437	1081	4	0	0	4	0.00184672	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.682	0.0950543439666	.	.	3.295e-05	0	0	0	0	1.498e-05	0	0.0002	2.59e-05	4	154602	rs759894199	2.531e-05	2.531e-05	1.906e-05	3.163e-05	0.0005	1.868e-05	1.631e-05	0.0001	0.0001	0	0	0	0	0	0.0005	1.079e-05	8.279e-05	0.0002	6.565e-06	6.562e-06	0	1.342e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.97372	D	0.001254	0.39669	N	0.000000	0.999847	0.81001	D	3.45	0.92227	M	-0.23	0.66652	T	-13.65	0.99959	D	0.912	0.91391	0.371	0.88663	D	0.573	0.84563	D	10	0.94262266	0.93587	D	0.095054	0.76362	D	0.682	0.88348	0.792	0.91365	0.882004212119	0.88085	0.790413600075333	0.78993	1.06838228443	0.76714	0.768895030022	0.77259	T	0.178844	0.52963	T	0.22166	0.75932	D	0.317291	0.88977	D	0.998541116714478	0.94448	D	0.79622	0.51177	T	0.93190217	0.94427	0.8189046	0.89468	0.93190217	0.94428	0.8189046	0.89469	-12.985	0.89302	D	.	.	0.986	0.95110	P	.;.;.	.;.;.	4.974868	0.82356	27.8	0.99658043998604184	0.77757	0.97602	0.75831	D	AEFDBI	0.831913	0.75038	D	0.861231354659377	0.89738	10.09677	0.764511598445775	0.87236	9.153369	0.999211844000006	0.38775	0.65861	0.49226	0	0.573888	0.26702	0	0.725225	0.93170	0	0.564101	0.26826	0	.	.	4.66	4.66	0.57857	7.499000	0.80410	9.027000	0.78584	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	1.0:0.0:0.0:0.0	13.932	0.63508	487	0.76954	.;WD40-repeat-containing domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1424.83	35	chr5	55124931	.	A	G	1424.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.03;DP=253;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=17.81;ReadPosRankSum=-0.185;SOR=0.743	GT:AD:DP:GQ:PL	0/1:29,51:80:99:1435,0,648	5	0	1	0
chr5	61332327	61332329	GGC	-	exonic	ZSWIM6	.	nonframeshift deletion	ZSWIM6:NM_020928:exon1:c.55_57del:p.G26del	Acromelic frontonasal dysostosis, Autosomal dominant	354	755	241	48	124	461	0.182458	.	.	.	1644033	ZSWIM6-related_disorder|not_specified|not_provided	.|MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	.	.	0.0276	.	.	.	.	.	.	.	.	.	.	.	.	rs1472713066	0.0011	0.0084	0.0009	0.0013	0.0059	0.0010	0.0010	0.0050	0.0047	0.0013	0.0045	0.0029	0.0059	0.0061	0.0019	0.0008	0.0018	0.0005	9.451e-05	0.0002	9.224e-05	9.69e-05	0.0002	5.673e-05	4.479e-05	4.775e-05	3.077e-05	0.0001	0	6.727e-05	0	0	0	0	9.004e-05	0.0005	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	1124.01	34	chr5	61332326	.	GGGC	G	1124.01	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.733;DP=144;ExcessHet=0.4139;FS=5.598;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=34.06;ReadPosRankSum=0.459;SOR=0.096	GT:AD:DP:GQ:PL	0/1:2,12:14:47:457,0,47	5	0	1	0
chr5	64717968	64717968	T	A	exonic	SHISAL2B	.	nonsynonymous SNV	SHISAL2B:NM_001164442:exon3:c.T429A:p.D143E	.	444	1073	4	1	0	6	0.0027881	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.010	0.00475912972066	0.0018	0.00159744	0.0015	0.0006	0	0	0.0013	0.0019	0	0.0015	0.0004657	72	154602	rs61742841	0.0016	0.0015	0.0015	0.0017	0.0034	0.0015	0.0015	0.0022	0.0018	0.0002	0.0006	0.0011	2.844e-05	0.0017	0.0034	0.0017	0.0016	0.0022	0.0017	0.0017	0.0018	0.0016	0.0031	0.0015	0.0015	0.0028	0.0026	0.0002	0	0.0006	0.0014	0	0.0011	0	0.0031	0	0.0031	0.332	0.13045	T	0.017	0.60337	D	.	.	.	.	.	.	0.006145	0.32237	N	0.252268	0.889003	0.27916	N	.	.	.	1.02	0.40749	T	-0.33	0.12472	N	0.081	0.05670	-1.0671	0.10062	T	0.046	0.19559	T	8	0.0047412515	0.00100	T	0.004759	0.11879	T	0.010	0.01040	0.352	0.35084	0.0138822411134	0.00435	0.225949625060176	0.22509	0.0952022656778	0.10748	0.392815589905	0.24066	T	0.00146	0.00916	T	-0.566266	0.00233	T	-0.583983	0.14190	T	0.0298218527406055	0.01962	T	0.433257	0.11819	T	0.044917043	0.07262	0.033415914	0.02234	0.044917043	0.07262	0.033415914	0.02234	-2.927	0.09416	T	.	.	0.089	0.12323	B	.	.	1.240719	0.16364	12.49	0.98568215702694106	0.43076	0.51133	0.28825	D	AEFDGI	0.156950	0.28238	N	-0.160288099176436	0.34798	1.990682	-0.107163080339621	0.35101	2.02675	0.913652699013321	0.26430	0.615465	0.37627	0	0.573888	0.26702	0	0.658983	0.55881	0	0.564101	0.26826	0	.	.	5.64	1.77	0.23848	-0.212000	0.09323	-0.566000	0.08452	0.665000	0.62972	0.978000	0.35038	0.072000	0.22236	0.998000	0.85391	0.1579:0.0881:0.1646:0.5894	2.147	0.03559	595	0.68488	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002513	0.000000	0.008475	0.008850	0.000000	0.000000	0.000000	0.000000	0.08333	722.83	40	chr5	64717968	.	T	A	722.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.38;DP=268;ExcessHet=0;FS=1.812;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=8.5;ReadPosRankSum=1.52;SOR=0.631	GT:AD:DP:GQ:PL	0/1:54,31:85:99:733,0,1435	5	0	1	0
chr5	75147405	75147405	G	T	exonic	ANKRD31	.	nonsynonymous SNV	ANKRD31:NM_001164443:exon14:c.C2006A:p.A669E,ANKRD31:NM_001372053:exon14:c.C2006A:p.A669E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.092	0.0109425829493	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.435287	0.12697	N	0.641607	1	0.08975	N	-0.695	0.01866	N	0.83	0.56609	T	2.31	0.00668	N	0.362	0.40364	-0.9885	0.32978	T	0.040	0.17106	T	10	0.030340731	0.01160	T	0.010943	0.28041	T	0.092	0.26621	0.536	0.64585	0.0138822411134	0.00435	0.07624892334609808	0.07560	.	.	0.293622672558	0.09453	T	5.4E-4	0.00213	T	-0.190674	0.22160	T	-0.511667	0.21143	T	0.0483075817821566	0.05198	T	0.114689	0.00872	T	0.041764557	0.06212	0.07908235	0.17772	0.041764557	0.06211	0.07908235	0.17772	-2.277	0.04430	T	.	.	0.063	0.01491	B	.;.	.;.	-0.181556	0.03186	0.524	0.23991360613992066	0.01040	0.00253	0.01392	N	AEFI	0.021844	0.01021	N	-1.32508634113015	0.03390	0.1513651	-1.22697144878004	0.05481	0.2612383	6.04685270051114E-5	0.04171	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.16	1.29	0.20717	0.466000	0.21731	-0.482000	0.08913	-0.110000	0.15115	0.156000	0.23741	0.000000	0.08366	0.382000	0.26379	0.176:0.0956:0.1856:0.5427	1.501	0.02327	850	0.35610	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	183.83	18	chr5	75147405	.	G	T	183.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.071;DP=185;ExcessHet=0;FS=1.685;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=7.66;ReadPosRankSum=0.149;SOR=1.23	GT:AD:DP:GQ:PL	0/1:15,9:24:99:194,0,367	5	0	1	0
chr5	79730516	79730516	A	C	exonic	CMYA5	.	nonsynonymous SNV	CMYA5:NM_153610:exon2:c.A1751C:p.E584A	.	424	1069	29	0	0	29	0.0133826	.	.	.	735218	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.088	.	0.0021	0.00299521	0.0038	0.0008	0.0010	0	0.0009	0.0029	0.0067	0.0145	0.0034476	533	154602	rs200387533	0.0027	0.0027	0.0022	0.0032	0.0155	0.0026	0.0026	0.0148	0.0145	0.0004	0.0006	0.0171	0	0.0010	0.0081	0.0016	0.0037	0.0155	0.0021	0.0021	0.0018	0.0024	0.0139	0.0019	0.0019	0.0112	0.0102	0.0003	0.0121	0.0005	0.0193	0	0.0018	0.0068	0.0020	0.0014	0.0139	0.47	0.08483	T	0.105	0.38016	T	0.953	0.54283	P	0.556	0.49411	P	0.046976	0.23388	N	0.365645	0.997561	0.22606	N	2.6	0.76081	M	0.64	0.52867	T	-2.95	0.61580	D	0.349	0.39052	-0.9154	0.46168	T	0.132	0.44307	T	10	0.0025447905	0.00039	T	.	.	.	0.088	0.25558	.	.	0.544738774389	0.54127	0.2969565352826435	0.29608	0.290506961512	0.31456	0.32499268651	0.14178	T	0.107114	0.41905	T	-0.438145	0.01326	T	-0.389818	0.34572	T	0.0364199132738606	0.03054	T	0.738226	0.35599	T	0.19137003	0.40761	0.20814788	0.45104	0.19137003	0.40761	0.20814788	0.45103	-5.679	0.43506	T	.	.	0.213	0.44161	B	.	.	3.764044	0.54020	23.4	0.99478722548153919	0.66741	0.93621	0.58720	D	AEFBI	0.130246	0.24872	N	0.395398827813312	0.61171	4.314794	0.453194173799013	0.64922	4.758969	0.999988312945074	0.51787	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.69	5.69	0.88346	3.545000	0.53401	8.102000	0.76560	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.8435:0.1564:0.0:0.0	10.939	0.46474	422	0.81333	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.007049	0.000000	0.005435	0.008772	0.000000	0.008621	0.006098	0.018939	0.08333	2401.83	33	chr5	79730516	.	A	C	2401.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.91;DP=407;ExcessHet=0;FS=2.967;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=16.34;ReadPosRankSum=-0.022;SOR=0.558	GT:AD:DP:GQ:PL	0/1:63,84:147:99:2412,0,1618	5	0	1	0
chr5	79734800	79734800	C	T	exonic	CMYA5	.	nonsynonymous SNV	CMYA5:NM_153610:exon2:c.C6035T:p.S2012F	.	430	1062	30	0	0	30	0.0139276	.	.	.	735224	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.226	.	0.0022	0.00299521	0.0038	0.0008	0.0011	0	0.0009	0.0028	0.0067	0.0144	0.0034346	531	154602	rs201032060	0.0027	0.0027	0.0022	0.0031	0.0154	0.0026	0.0026	0.0148	0.0145	0.0004	0.0006	0.0171	0	0.0010	0.0080	0.0016	0.0037	0.0154	0.0021	0.0021	0.0019	0.0024	0.0139	0.0019	0.0018	0.0112	0.0102	0.0003	0.0121	0.0005	0.0193	0	0.0018	0.0068	0.0019	0.0014	0.0139	0.001	0.78490	D	0.016	0.60972	D	0.994	0.66517	D	0.862	0.61339	P	0.039534	0.24160	N	0.210202	0.999995	0.08975	N	1.01	0.25309	L	0.7	0.51474	T	-2.87	0.60348	D	0.329	0.36989	-0.9838	0.34116	T	0.134	0.44817	T	10	0.004062146	0.00079	T	.	.	.	0.226	0.52472	.	.	0.510054698054	0.50647	0.21170296660857402	0.21086	0.242559149835	0.26761	0.298259317875	0.10143	T	0.027042	0.19889	T	-0.188899	0.22422	T	-0.0317921	0.68248	D	0.0461429816485544	0.04810	T	0.517048	0.16713	T	0.22967087	0.45709	0.24030852	0.49401	0.22967087	0.45709	0.24030852	0.49400	-5.613	0.42911	T	.	.	0.169	0.37235	B	.	.	1.986486	0.25238	16.69	0.84427426053933818	0.15285	0.13837	0.18079	N	AEFBI	0.090196	0.18279	N	-0.00724785906571376	0.41528	2.485462	-0.0779092449499073	0.36306	2.111129	0.648451535963223	0.22135	0.553676	0.25195	0	0.563428	0.19063	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	5.65	4.77	0.60425	1.641000	0.36812	2.104000	0.30620	0.599000	0.40250	0.018000	0.19461	0.027000	0.21108	0.127000	0.19450	0.0:0.9111:0.0:0.0889	11.002	0.46824	419	0.81524	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.006042	0.000000	0.002717	0.008772	0.000000	0.008621	0.006098	0.018939	0.08333	885.83	33	chr5	79734800	.	C	T	885.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.731;DP=257;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.76;ReadPosRankSum=-0.242;SOR=0.599	GT:AD:DP:GQ:PL	0/1:24,36:60:99:896,0,632	5	0	1	0
chr5	83519829	83519829	T	A	exonic	VCAN	.	nonsynonymous SNV	VCAN:NM_001164098:exon7:c.T1523A:p.I508N,VCAN:NM_004385:exon7:c.T1523A:p.I508N	Wagner syndrome 1, Autosomal dominant	0	1509	13	0	0	13	0.00428901	.	.	.	298232	Vitreoretinopathy|not_provided|Wagner_syndrome	Human_Phenotype_Ontology:HP:0000655,Human_Phenotype_Ontology:HP:0007773,MONDO:MONDO:0020248,MedGen:C0344290|MedGen:C3661900|Human_Phenotype_Ontology:HP:0030673,MONDO:MONDO:0007740,MedGen:C1840452,OMIM:143200,Orphanet:898	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.173	0.0877976089908	0.0033	0.00139776	0.0029	0.0007	0.0010	0	0.0009	0.0049	0.0033	0.0001	0.0030271	468	154602	rs143368552	0.0034	0.0034	0.0035	0.0034	0.0042	0.0034	0.0033	0.0041	0.0041	0.0006	0.0014	0.0002	0	0.0010	0.0040	0.0042	0.0029	0.0003	0.0027	0.0027	0.0031	0.0022	0.0049	0.0024	0.0024	0.0045	0.0043	0.0007	0	0.0013	0.0012	0	0.0006	0.0102	0.0049	0.0024	0	0.005	0.68238	D	0.225	0.48336	T	0.454	0.36182	P	0.107	0.37837	B	0.957349	0.08247	N	0.979057	1	0.08975	N	1.5	0.37844	L	-1.88	0.85247	D	-0.67	0.23156	N	0.206	0.32812	-0.6632	0.62135	T	0.350	0.71431	T	10	0.0040870905	0.00080	T	0.087798	0.75008	D	0.173	0.43840	.	.	0.292942362817	0.28906	0.1050022236089348	0.10430	0.208469342554	0.23317	0.247759476304	0.03535	T	0.158387	0.50138	T	-0.389671	0.02704	T	-0.3299	0.41479	T	0.00356590559748034	0.00038	T	0.734827	0.35112	T	0.121883705	0.28653	0.064520426	0.12944	0.14654644	0.33541	0.06524507	0.13195	-5.446	0.42692	T	.	.	0.084	0.09868	B	.;.;.	.;.;.	1.072521	0.14550	11.12	0.87688088677568676	0.17409	0.05503	0.11390	N	AEFBI	0.063346	0.12235	N	-0.932756194504601	0.10083	0.4801477	-1.05516256854361	0.08600	0.4236068	0.999768823490462	0.42728	0.67177	0.52595	0	0.573888	0.26702	0	0.702456	0.68683	0	0.616125	0.45549	0	.	.	5.77	-2.17	0.06663	-0.077000	0.11356	0.047000	0.13948	-0.201000	0.08892	0.000000	0.06391	0.000000	0.08366	0.755000	0.35964	0.1152:0.3432:0.2289:0.3127	1.692	0.02680	956	0.09877	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.003525	0.000000	0.002717	0.005848	0.000000	0.000000	0.006098	0.003788	0.08333	1907.83	34	chr5	83519829	.	T	A	1907.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.588;DP=340;ExcessHet=0;FS=1.288;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.8;ReadPosRankSum=-0.46;SOR=0.566	GT:AD:DP:GQ:PL	0/1:73,76:149:99:1918,0,1883	5	0	1	0
chr5	90811174	90811174	A	G	exonic	ADGRV1	.	nonsynonymous SNV	ADGRV1:NM_032119:exon74:c.A15914G:p.D5305G	Usher syndrome, type 2C, Autosomal recessive, Digenic dominant;Usher syndrome, type 2C, GPR98/PDZD7 digenic, Autosomal recessive, Digenic dominant	.	.	.	.	.	.	.	.	.	YES	1508356	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.115	0.00925634705501	.	.	4.249e-05	0	0	0	0	7.672e-05	0	0	3.23e-05	5	154602	rs752282559	8.895e-06	8.893e-06	5.446e-06	1.238e-05	1.079e-05	4.96e-06	3.82e-06	5.76e-06	4.55e-06	0	0	0	0	0	0	1.079e-05	1.656e-05	0	2.628e-05	2.626e-05	1.284e-05	4.034e-05	5.879e-05	8.14e-06	5.14e-06	1.972e-05	1.124e-05	0	0	0	0	0	0	0	5.879e-05	0	0	0.065	0.36310	T	0.064	0.44905	T	0.379	0.34321	B	0.272	0.39956	B	0.010070	0.30079	N	0.389540	0.990954	0.41274	D	.	.	.	1.51	0.30937	T	-2.65	0.56787	D	0.342	0.38335	-1.0187	0.24139	T	0.107	0.38931	T	9	0.25447017	0.42827	T	0.009256	0.24319	T	0.115	0.32236	.	.	0.585961050355	0.58270	0.6358285190026367	0.63516	0.340541529389	0.35994	0.307649701834	0.11552	T	0.167395	0.51400	T	-0.228825	0.16804	T	-0.436016	0.29256	T	0.834755659103394	0.48905	D	0.732627	0.34815	T	0.16322127	0.36449	0.22528839	0.47469	0.16322127	0.36449	0.22528839	0.47468	-7.402	0.56919	T	.	.	0.145	0.36475	B	.;.;.	.;.;.	3.916883	0.57157	23.8	0.98992653850997359	0.49983	0.98909	0.88484	D	AEFBI	0.701410	0.65811	D	0.0660099452193247	0.44882	2.754291	0.165609774432466	0.47975	3.019852	0.19580573067223	0.18057	0.706548	0.73137	0	0.588015	0.36545	0	0.724815	0.87919	0	0.564101	0.26826	0	.	.	5.36	5.36	0.76624	5.217000	0.65084	7.917000	0.74325	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.913000	0.44837	1.0:0.0:0.0:0.0	15.345	0.74036	769	0.49307	.;.;Na-Ca exchanger/integrin-beta4	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.1667	3877.04	33	chr5	90811174	.	A	G	3877.04	.	AC=2;AF=0.167;AN=12;DP=348;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;QD=31.78;SOR=0.906	GT:AD:DP:GQ:PL	1/1:0,122:122:99:3897,366,0	5	1	0	0
chr5	96880181	96880181	A	G	exonic	ERAP2	.	nonsynonymous SNV	ERAP2:NM_001130140:exon2:c.A496G:p.M166V,ERAP2:NM_001329229:exon2:c.A496G:p.M166V,ERAP2:NM_001329233:exon2:c.A496G:p.M166V,ERAP2:NM_022350:exon2:c.A496G:p.M166V	.	418	1103	1	0	0	1	0.000453104	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.074	0.00420034407726	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.841e-07	6.84e-07	0	1.375e-06	0.0002	0	0	.	.	0	0	0	0	0	0.0002	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.005	0.63226	D	0.095	0.41742	T	0.0	0.02946	B	0.0	0.01387	B	0.004318	0.33881	N	0.237437	0.999968	0.18878	N	-0.33	0.03531	N	4.41	0.03239	T	0.0	0.07590	N	0.235	0.27910	-0.9361	0.43226	T	0.006	0.01944	T	10	0.13595927	0.25870	T	0.004	0.10121	T	0.074	0.21613	0.532	0.64002	0.137902524267	0.13322	0.4005938978948853	0.39974	0.0480841758058	0.05242	0.356558382511	0.18884	T	0.004826	0.04238	T	-0.255661	0.13414	T	-0.605016	0.12394	T	0.443686276674271	0.30565	T	0.425957	0.14488	T	0.3642179	0.58155	0.18565701	0.41691	0.3642179	0.58155	0.18565701	0.41690	-6.281	0.48571	T	.	.	0.075	0.21913	B	.;.;.;.	.;.;.;.	2.140780	0.27259	17.40	0.92515658505232523	0.21955	0.80632	0.40219	D	AEFDGBCI	0.195656	0.32268	N	-0.515785677470007	0.21569	1.14566	-0.36140343089793	0.26158	1.443047	0.999993503182072	0.74766	0.553676	0.25195	0	0.516746	0.08562	0	0.618467	0.43123	0	0.466023	0.07079	0	.	.	4.55	3.38	0.37806	2.956000	0.48822	1.222000	0.24983	0.567000	0.28720	0.988000	0.36536	0.003000	0.18671	0.938000	0.47775	0.9069:0.0:0.0931:0.0	8.831	0.34246	904	0.23766	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1648.83	39	chr5	96880181	.	A	G	1648.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.02;DP=296;ExcessHet=0;FS=1.519;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.86;ReadPosRankSum=0.12;SOR=0.868	GT:AD:DP:GQ:PL	0/1:55,64:119:99:1659,0,1325	5	0	1	0
chr5	102296244	102296244	T	A	exonic	SLCO4C1	.	nonsynonymous SNV	SLCO4C1:NM_180991:exon1:c.A19T:p.I7F	.	414	1107	1	0	0	1	0.000451467	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.063	0.024389223275	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.15e-07	6.84e-07	0	1.45e-06	9.239e-07	0	0	.	.	0	0	0	0	0	0	9.239e-07	0	0	6.571e-06	6.567e-06	0	1.345e-05	.	0	0	.	.	0	0	0	0	0	0	0	0	0.0005	0	0.004	0.65419	D	0.0	0.92824	D	0.006	0.13644	B	0.003	0.08700	B	0.055470	0.02073	N	2.384480	1	0.08975	N	1.04	0.26193	L	0.91	0.44856	T	-1.19	0.30346	N	0.286	0.32370	-1.0166	0.24819	T	0.099	0.36907	T	10	0.089298695	0.15457	T	0.024389	0.47377	T	0.063	0.18251	0.384	0.40298	0.117506650769	0.11410	0.4594230961124838	0.45860	0.0577436462115	0.06399	0.606148898602	0.53773	T	0.013449	0.11628	T	-0.164787	0.26025	T	-0.474482	0.25035	T	0.3049276471138	0.25206	T	0.725627	0.33984	T	0.11301921	0.26695	0.078866005	0.17704	0.11301921	0.26695	0.078866005	0.17703	-2.907	0.09213	T	.	.	0.070	0.03336	B	.	.	1.608163	0.20553	14.80	0.86414388003736164	0.16520	0.49913	0.28542	N	ALL	0.045576	0.07471	N	-0.996578957448715	0.08677	0.4077298	-1.06418366971145	0.08414	0.4135977	0.999999999584498	0.74766	0.652421	0.48094	0	0.552344	0.17405	0	0.64067	0.45733	0	0.554799	0.18163	0	.	.	4.11	-1.63	0.07900	0.193000	0.16921	-0.780000	0.07458	-0.186000	0.09761	0.654000	0.28207	0.010000	0.20010	0.012000	0.09680	0.1596:0.2879:0.0:0.5525	3.615	0.07617	347	0.85595	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	680.83	40	chr5	102296244	.	T	A	680.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.888;DP=232;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=17.02;ReadPosRankSum=-0.755;SOR=0.527	GT:AD:DP:GQ:PL	0/1:15,25:40:99:691,0,370	5	0	1	0
chr5	102498660	102498660	C	T	exonic	SLCO6A1	.	nonsynonymous SNV	SLCO6A1:NM_001289002:exon1:c.G185A:p.G62D,SLCO6A1:NM_001289004:exon1:c.G185A:p.G62D,SLCO6A1:NM_001308014:exon1:c.G185A:p.G62D,SLCO6A1:NM_173488:exon1:c.G185A:p.G62D	.	423	1090	9	0	0	9	0.00411147	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.119	0.00473244710884	0.0002	0.000998403	0.0010	0	0.0002	0	0	5.994e-05	0	0.0070	0.0008215	127	154602	rs139540296	0.0005	0.0005	0.0003	0.0007	0.0073	0.0005	0.0004	0.0068	0.0066	2.987e-05	0.0001	0	7.557e-05	0	0.0012	4.317e-05	0.0003	0.0073	0.0002	0.0002	0.0001	0.0004	0.0058	0.0002	0.0002	0.0041	0.0036	2.404e-05	0	0.0001	0	0	0	0.0068	5.88e-05	0	0.0058	0.178	0.29158	T	0.334	0.26467	T	0.94	0.60036	P	0.403	0.53442	B	0.000007	0.00162	N	7.138780	1	0.08975	N	0.805	0.20218	L	0.97	0.44856	T	-2.4	0.56630	N	0.085	0.19459	-1.0017	0.29430	T	0.093	0.35471	T	10	0.004949361	0.00106	T	0.004732	0.11784	T	0.119	0.33137	.	.	0.226586394389	0.22295	0.269533062504825	0.26866	0.281082333658	0.30582	0.273463100195	0.06597	T	0.121128	0.44386	T	-0.621164	0.00108	T	-0.660751	0.08215	T	0.0913392641420458	0.11376	T	0.59564	0.22108	T	0.088346764	0.20607	0.09878061	0.23563	0.088346764	0.20606	0.09878061	0.23562	-4.459	0.30348	T	.	.	0.225	0.60090	B	.;.;.;.	.;.;.;.	-0.695142	0.01332	0.073	0.982774921477231	0.39823	0.01833	0.05688	N	AEFBHCI	0.025238	0.01695	N	-0.855745855062781	0.11910	0.5774244	-1.06440168268425	0.08410	0.4133661	2.34430011323553E-4	0.06095	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	3.38	-2.27	0.06458	-2.998000	0.00718	-6.480000	0.01387	-0.257000	0.07002	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.2442:0.3875:0.3683	4.850	0.12895	238	0.90711	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.08333	1909.83	39	chr5	102498660	.	C	T	1909.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-3.249;DP=330;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.08;ReadPosRankSum=-0.184;SOR=0.742	GT:AD:DP:GQ:PL	0/1:69,77:146:99:1920,0,1860	5	0	1	0
chr5	121852467	121852467	G	C	exonic	FTMT	.	nonsynonymous SNV	FTMT:NM_177478:exon1:c.G504C:p.K168N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.376	0.026800048425	.	0.000199681	0.0001	0	0	0	0	0	0.0011	0.0008	9.7e-05	15	154602	rs568437715	3.762e-05	3.762e-05	1.225e-05	6.325e-05	0.0006	2.959e-05	2.655e-05	0.0005	0.0004	0	0	0	0	0	0	0	1.656e-05	0.0006	1.314e-05	1.313e-05	1.286e-05	1.344e-05	0.0004	2.18e-06	8.2e-07	7.301e-05	3.033e-05	0	0	0	0	0	0	0	0	0	0.0004	0.0	0.91255	D	0.001	0.83351	D	0.995	0.67487	D	0.965	0.71173	D	0.000000	0.84330	D	0.000000	0.99981	0.49394	D	3.52	0.92970	H	-0.66	0.72348	T	-4.44	0.77637	D	0.749	0.74826	-0.2322	0.76829	T	0.488	0.80535	T	10	0.6368638	0.68831	D	0.027	0.49675	D	0.376	0.69443	0.635	0.77142	0.838530319807	0.83698	0.7169558175363272	0.71638	0.744139049839	0.63423	0.550722956657	0.45959	T	0.728204	0.92372	D	-0.233166	0.16233	T	-0.223272	0.52421	T	0.958125233650208	0.65187	D	0.908709	0.67605	D	0.9406303	0.95311	0.75918907	0.85771	0.9406303	0.95312	0.75918907	0.85772	-9.628	0.71653	D	.	.	0.917	0.83961	P	.	.	3.818019	0.55117	23.6	0.99615060252181054	0.75052	0.96388	0.68895	D	AEFDI	0.233538	0.35645	N	0.222665488484597	0.52300	3.404941	-0.0101376230133818	0.39255	2.324821	4.25303447376215E-5	0.03989	0.487112	0.14033	0	0.573888	0.26702	0	0.48864	0.07692	0	0.564101	0.26826	0	.	.	3.36	-0.048	0.13170	2.067000	0.41087	2.347000	0.32290	0.676000	0.76740	1.000000	0.71638	0.993000	0.31925	0.990000	0.65344	0.2388:0.1715:0.5896:0.0	5.037	0.13781	904	0.23766	Ferritin/DPS protein domain|Ferritin-like diiron domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	1301.83	40	chr5	121852467	.	G	C	1301.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.47;DP=300;ExcessHet=0;FS=3.565;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.17;ReadPosRankSum=-1.245;SOR=1.044	GT:AD:DP:GQ:PL	0/1:58,49:107:99:1312,0,1492	5	0	1	0
chr5	132331810	132331810	C	T	exonic	SLC22A4	.	nonsynonymous SNV	SLC22A4:NM_003059:exon6:c.C1006T:p.R336W	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.101	0.0157627003353	.	0.000199681	1.648e-05	0	0	0.0001	0	0	0	6.056e-05	1.94e-05	3	154602	rs76343123	4.106e-06	4.104e-06	1.362e-06	6.877e-06	4.472e-05	1.48e-06	9.7e-07	7.41e-06	2.77e-06	0	4.472e-05	3.827e-05	0	0	0	8.996e-07	0	2.319e-05	1.314e-05	1.313e-05	2.571e-05	0	0.0002	2.18e-06	8.2e-07	.	.	0	0	6.544e-05	0	0.0002	0	0	0	0	0	0.222	0.18823	T	0.224	0.25591	T	0.008	0.14655	B	0.013	0.16460	B	0.824339	0.06902	N	1.079370	0.999999	0.08975	N	1.565	0.39561	L	0.05	0.61923	T	-2.78	0.58896	D	0.15	0.15328	-0.9979	0.30507	T	0.161	0.49565	T	10	0.051735163	0.05099	T	0.015763	0.36670	T	0.101	0.28911	.	.	0.505765104075	0.50213	0.337021377024676	0.33615	0.24306292398	0.26809	0.182675361633	0.00121	T	0.242633	0.61141	T	-0.317792	0.07079	T	-0.518416	0.20456	T	0.0659653916954994	0.08072	T	0.152485	0.01303	T	0.15987031	0.35889	0.12082873	0.29156	0.15987031	0.35889	0.12082873	0.29155	-6.112	0.47207	T	.	.	0.120	0.24700	B	.	.	0.611053	0.09797	6.560	0.42904691606559392	0.03194	0.04068	0.09521	N	AEFBI	0.108384	0.21563	N	-1.62547350296698	0.01143	0.04964798	-1.68105996328787	0.01223	0.05510952	0.898710015571999	0.26033	0.651	0.46895	0	0.573888	0.26702	0	0.618467	0.43123	0	0.683762	0.67416	0	.	.	5.86	-2.87	0.05359	-0.190000	0.09612	-0.822000	0.07291	-1.088000	0.01543	0.018000	0.19461	0.000000	0.08366	0.017000	0.10941	0.1845:0.4307:0.1786:0.2062	2.155	0.03577	452	0.79239	Major facilitator superfamily domain|Major facilitator superfamily domain	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	658.83	35	chr5	132331810	.	C	T	658.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.529;DP=252;ExcessHet=0;FS=1.967;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=8.67;ReadPosRankSum=-0.417;SOR=0.945	GT:AD:DP:GQ:PL	0/1:47,29:76:99:669,0,1177	5	0	1	0
chr5	141400463	141400463	A	G	exonic	PCDHGB5	.	nonsynonymous SNV	PCDHGB5:NM_018925:exon1:c.A2336G:p.D779G,PCDHGB5:NM_032099:exon1:c.A2336G:p.D779G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.065e-06	5.274e-05	1.371e-06	2.765e-06	2.718e-06	5.5e-07	1.5e-07	7.2e-07	2e-07	0	0	0	0	0	0	2.718e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.067	0.44302	T	0.009	0.15093	B	0.029	0.21540	B	.	.	.	.	1	0.81001	D	1.51	0.38214	L	.	.	.	.	.	.	0.241	0.34659	.	.	.	.	.	.	.	0.20647642	0.36910	T	.	.	.	.	.	.	.	0.567858160113	0.56450	0.27775437007942005	0.27688	.	.	.	.	.	0.07356	0.34727	T	0.118978	0.66270	D	-0.0668731	0.65849	T	.	.	.	0.475152	0.14192	T	0.18996084	0.40560	0.40470845	0.64891	0.18996084	0.40560	0.40470845	0.64891	-4.16	0.26766	T	.	.	0.089	0.12323	B	.;.	.;.	3.615017	0.51130	23.0	0.70790902653605781	0.09412	0.84947	0.44044	D	AEFDBHCI	.	.	.	.	.	.	.	.	.	0.999600704005591	0.40866	0.090766	0.02384	0	0.097471	0.02872	0	0.129117	0.03641	0	0.023427	0.00073	3	0.343073	0.36021	5.25	5.25	0.73169	2.964000	0.48885	.	.	0.751000	0.87719	1.000000	0.71638	0.999000	0.35428	0.831000	0.39176	0.9146:0.0:0.0854:0.0	9.287	0.36925	809	0.43032	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1667	221.05	214	chr5	141400463	.	A	G	221.05	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-7.073;DP=825;ExcessHet=0.4139;FS=224.311;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=0.56;ReadPosRankSum=1.18;SOR=7.978	GT:AD:DP:GQ:PL	0/1:128,55:183:99:213,0,2220	4	0	2	0
chr5	141405191	141405191	C	G	exonic	PCDHGA9	.	nonsynonymous SNV	PCDHGA9:NM_018921:exon1:c.C2239G:p.R747G,PCDHGA9:NM_032089:exon1:c.C2239G:p.R747G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00755293554058	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.491	0.11515	T	0.981	0.59675	D	0.838	0.60045	P	.	.	.	.	1	0.08975	N	1.195	0.30194	L	0.94	0.43672	T	.	.	.	0.078	0.05287	.	.	.	.	.	.	.	0.08160728	0.13379	T	0.007553	0.20033	T	.	.	.	.	0.733364837216	0.73099	0.20954687705575722	0.20870	0.339956898807	0.35944	.	.	.	0.026187	0.19430	T	-0.173644	0.24684	T	-0.487204	0.23684	T	.	.	.	0.613939	0.23413	T	0.16020595	0.35946	0.13587603	0.32522	0.16020595	0.35946	0.13587603	0.32521	-7.489	0.57533	T	.	.	0.119	0.24464	B	.;.	.;.	2.114189	0.26909	17.28	0.67628583049424507	0.08411	0.10204	0.15775	N	AEFBI	0.148575	0.27249	N	.	.	.	.	.	.	0.913604298804113	0.26428	0.554377	0.28877	0	0.588066	0.40923	0	0.603688	0.36954	0	0.530356	0.10902	0	.	.	5.48	3.64	0.40864	0.544000	0.22960	.	.	-0.165000	0.11486	0.000000	0.06391	0.000000	0.08366	0.085000	0.17524	0.3652:0.5679:0.0:0.0669	9.999	0.41092	809	0.43032	.;Cadherin, cytoplasmic C-terminal domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	2055.83	47	chr5	141405191	.	C	G	2055.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.19;DP=441;ExcessHet=0;FS=5.434;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.95;ReadPosRankSum=2.15;SOR=1.001	GT:AD:DP:GQ:PL	0/1:92,80:172:99:2066,0,2373	5	0	1	0
chr5	146286009	146286009	G	C	exonic	RBM27	.	nonsynonymous SNV	RBM27:NM_018989:exon21:c.G3162C:p.E1054D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.401	0.126694259352	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	0.984	0.60733	D	0.935	0.67021	D	0.000001	0.62929	D	0.000000	0.99994	0.51968	D	2.57	0.75187	M	-1.2	0.78537	T	-2.43	0.53258	N	0.604	0.62188	-0.0768	0.80625	T	0.530	0.82549	D	10	0.56155825	0.64816	D	0.126694	0.80839	D	0.401	0.71479	0.107	0.01868	0.710301815084	0.70777	0.0974803881878346	0.09679	0.986908435057	0.73940	0.789129674435	0.80310	T	0.342279	0.71108	T	0.0376074	0.56730	T	-0.183756	0.56173	T	0.978155314922333	0.72188	D	0.924008	0.72230	D	0.5375406	0.69258	0.40438652	0.64867	0.5375406	0.69260	0.40438652	0.64868	-4.2	0.26751	T	.	.	0.635	0.70325	P	.	.	3.296734	0.45235	22.1	0.99785765923896841	0.87219	0.89146	0.49438	D	AEFGBI	0.237189	0.35951	N	0.309027367486255	0.56610	3.826061	0.216695905855177	0.50773	3.265896	0.999903693258869	0.45458	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.32	0.414	0.15624	1.641000	0.36812	2.352000	0.32320	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.6152:0.0:0.3848:0.0	8.777	0.33924	839	0.37672	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1	49.01	54	chr5	146286009	.	G	C	49.01	.	AC=1;AF=0.1;AN=10;BaseQRankSum=-1.75;DP=318;ExcessHet=0;FS=127.075;MLEAC=1;MLEAF=0.1;MQ=60;MQRankSum=0;QD=0.98;ReadPosRankSum=0.152;SOR=7.569	GT:AD:DP:GQ:PL	0/1:37,13:50:58:58,0,675	4	0	1	1
chr5	148827923	148827923	T	G	exonic	ADRB2	.	nonsynonymous SNV	ADRB2:NM_000024:exon1:c.T1092G:p.S364R	Beta-2-adrenoreceptor agonist, reduced response to (3)	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.089	0.021067232605	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.842e-07	6.84e-07	0	1.375e-06	.	0	0	.	.	0	0	0	0	0	0	0	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.112	0.28900	T	0.228	0.25286	T	0.09	0.25173	B	0.015	0.17295	B	0.092812	0.20255	N	0.548503	1	0.08975	N	2.015	0.55033	M	-0.17	0.65563	T	-1.13	0.29114	N	0.138	0.13626	-0.9519	0.40643	T	0.153	0.48239	T	10	0.11876723	0.22460	T	0.021067	0.43780	T	0.089	0.25827	0.238	0.16912	0.546435761033	0.54298	0.4266952136538815	0.42586	0.623133050017	0.56546	0.338880956173	0.16270	T	0.122483	0.44619	T	-0.117682	0.33503	T	-0.406818	0.32592	T	0.44919091463089	0.30767	T	0.649735	0.26051	T	0.057457346	0.11437	0.09083816	0.21325	0.057457346	0.11436	0.09083816	0.21325	-3.669	0.18861	T	.	.	0.133	0.28693	B	.	.	0.923357	0.12983	9.489	0.94280125257512204	0.24574	0.56032	0.30014	D	AEFDBHCIJ	0.244207	0.36535	N	-0.761470134859917	0.14323	0.7125693	-0.788919497241997	0.14766	0.7732987	0.999999935096498	0.74766	0.549168	0.22868	0	0.541556	0.11502	0	0.590023	0.30420	0	0.665054	0.64577	0	.	.	5.83	-3.78	0.04049	-0.108000	0.10827	-0.780000	0.07458	-0.716000	0.03877	0.902000	0.31475	0.010000	0.20010	0.004000	0.06068	0.0:0.5579:0.1174:0.3247	10.583	0.44455	783	0.47268	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	1018.83	55	chr5	148827923	.	T	G	1018.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.05;DP=324;ExcessHet=0;FS=0.878;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.58;ReadPosRankSum=-1.533;SOR=0.829	GT:AD:DP:GQ:PL	0/1:36,39:75:99:1029,0,864	5	0	1	0
chr5	150117736	150117736	C	T	exonic	PDGFRB	.	nonsynonymous SNV	PDGFRB:NM_001355016:exon21:c.G2827A:p.V943I,PDGFRB:NM_001355017:exon22:c.G2536A:p.V846I,PDGFRB:NM_002609:exon22:c.G3019A:p.V1007I	Basal ganglia calcification, idiopathic, 4, Autosomal dominant;Kosaki overgrowth syndrome, Autosomal dominant;Myeloproliferative disorder with eosinophilia, Autosomal dominant;Myofibromatosis, infantile, 1, Autosomal dominant;Premature aging syndrome, Penttinen type, Autosomal dominant	8	1512	2	0	0	2	0.000660939	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.110	0.0169677010642	0.0002	0.000199681	4.131e-05	0	0	0	0	6.01e-05	0	6.056e-05	3.88e-05	6	154602	rs142762235	4.585e-05	4.652e-05	4.902e-05	4.264e-05	0.0003	3.663e-05	3.348e-05	6.094e-05	3.372e-05	2.988e-05	4.472e-05	3.826e-05	2.519e-05	1.872e-05	0.0003	4.768e-05	4.969e-05	3.478e-05	3.286e-05	3.281e-05	3.858e-05	2.688e-05	0.0002	1.261e-05	7.98e-06	7.99e-06	2.99e-06	4.819e-05	0	0	0	0	0	0	2.941e-05	0	0.0002	0.425	0.09687	T	0.523	0.10354	T	0.528	0.37661	P	0.082	0.29098	B	0.000355	0.45440	D	0.000000	0.971177	0.25667	N	1.525	0.38595	L	-0.94	0.75325	T	-0.42	0.14193	N	0.056	0.02759	-0.8554	0.51592	T	0.189	0.54079	T	10	0.07033679	0.10219	T	0.016968	0.38471	T	0.110	0.31079	.	.	0.441126933838	0.43733	0.39630007557819136	0.39545	0.319898815271	0.34186	0.560918092728	0.47397	T	0.233898	0.60081	T	-0.274129	0.11301	T	-0.4339	0.29492	T	0.0827091187238693	0.10331	T	0.79972	0.44511	T	0.04556853	0.07481	0.040436573	0.04369	0.04556853	0.07481	0.040436573	0.04369	-4.319	0.28442	T	0.10945678240200538	0.09141	0.070	0.03372	B	.	.	2.693739	0.35167	19.83	0.98380749320250993	0.40853	0.54542	0.29641	D	AEFBI	0.182805	0.31013	N	-0.125296788854871	0.36292	2.095892	0.00804625694106651	0.40088	2.38689	0.999960574383137	0.48965	0.700653	0.57754	0	0.670034	0.63936	0	0.717052	0.78885	0	0.631631	0.49550	0	.	.	5.26	5.26	0.73479	2.287000	0.43166	3.292000	0.37313	0.599000	0.40250	0.157000	0.23755	0.998000	0.33993	0.990000	0.65344	0.0:0.8431:0.0:0.1569	9.632	0.38947	563	0.71062	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1121.83	41	chr5	150117736	.	C	T	1121.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.17;DP=300;ExcessHet=0;FS=0.747;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.33;ReadPosRankSum=2.18;SOR=0.608	GT:AD:DP:GQ:PL	0/1:55,44:99:99:1132,0,1405	5	0	1	0
chr5	176889690	176889690	C	T	exonic	HK3	.	nonsynonymous SNV	HK3:NM_002115:exon7:c.G685A:p.G229S	.	402	1115	5	0	0	5	0.00223714	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.336	0.139327893959	0.0002	0.000998403	0.0005	0.0003	8.642e-05	0	0.0002	0.0005	0	0.0016	0.0004657	72	154602	rs150811542	0.0006	0.0006	0.0005	0.0006	0.0029	0.0005	0.0005	0.0019	0.0018	8.961e-05	8.944e-05	0	0	0.0002	0.0029	0.0005	0.0007	0.0021	0.0003	0.0003	0.0003	0.0004	0.0017	0.0003	0.0002	0.0008	0.0006	0.0001	0	0.0001	0	0	0.0002	0	0.0005	0.0005	0.0017	1.0	0.00964	T	0.38	0.15988	T	0.014	0.16867	B	0.015	0.17295	B	0.000767	0.41888	D	0.108055	0.964984	0.38440	D	-1.305	0.00708	N	-5.12	0.98731	D	1.14	0.01166	N	0.152	0.15609	0.093	0.84040	D	0.615	0.86376	D	10	0.016960025	0.00360	T	0.139328	0.82181	D	0.336	0.65816	.	.	0.911562725633	0.91067	0.5657865727070821	0.56506	0.120693345613	0.13590	0.442217677832	0.30881	T	0.115625	0.43436	T	-0.266717	0.12126	T	-0.16316	0.58067	T	0.0158107012569474	0.00369	T	0.884712	0.60854	D	0.047398232	0.08094	0.08003579	0.18069	0.047398232	0.08094	0.08003579	0.18069	0.88	0.00148	T	.	.	0.102	0.17869	B	.	.	3.325488	0.45760	22.2	0.49007671872478631	0.04137	0.55554	0.29893	D	AEFGBI	0.180607	0.30792	N	-0.54841216727069	0.20534	1.083148	-0.281971400128015	0.28692	1.60171	0.99971189219022	0.42101	0.516011	0.20929	0	0.610034	0.51514	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.71	3.7	0.41607	4.612000	0.60873	2.699000	0.34147	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.940000	0.48062	0.0:0.5606:0.0:0.4394	4.404	0.10830	551	0.72115	Hexokinase, N-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003021	0.000000	0.001359	0.005848	0.000000	0.000000	0.003049	0.007576	0.08333	1858.83	36	chr5	176889690	.	C	T	1858.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.787;DP=325;ExcessHet=0;FS=0.648;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.67;ReadPosRankSum=0.024;SOR=0.778	GT:AD:DP:GQ:PL	0/1:65,71:136:99:1869,0,1667	5	0	1	0
chr5	180280488	180280488	C	T	exonic	MAPK9	.	nonsynonymous SNV	MAPK9:NM_001308244:exon1:c.G74A:p.R25H,MAPK9:NM_001135044:exon2:c.G74A:p.R25H,MAPK9:NM_002752:exon2:c.G74A:p.R25H,MAPK9:NM_139068:exon2:c.G74A:p.R25H,MAPK9:NM_139069:exon2:c.G74A:p.R25H,MAPK9:NM_139070:exon2:c.G74A:p.R25H,MAPK9:NM_001364607:exon3:c.G74A:p.R25H,MAPK9:NM_001364608:exon3:c.G74A:p.R25H,MAPK9:NM_001364609:exon3:c.G74A:p.R25H,MAPK9:NM_001364610:exon3:c.G74A:p.R25H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.656	0.109446218766	0.0002	.	2.471e-05	0	0	0	0	4.496e-05	0	0	2.59e-05	4	154602	rs372942401	2.463e-05	2.531e-05	2.586e-05	2.338e-05	3.147e-05	1.803e-05	1.6e-05	2.285e-05	2.022e-05	0	0	0	0	0	0	3.147e-05	1.656e-05	0	2.628e-05	2.627e-05	1.284e-05	4.035e-05	4.41e-05	8.14e-06	5.14e-06	1.171e-05	6.25e-06	2.413e-05	0	0	0	0	0	0	4.41e-05	0	0	0.0	0.91255	D	0.022	0.92824	D	0.99	0.90584	D	0.624	0.97372	P	0.000000	0.84330	D	0.000000	1	0.81001	D	1.905	0.50856	L	-1.8	0.83893	D	-4.57	0.82341	D	0.838	0.90590	0.261	0.86923	D	0.647	0.87676	D	9	0.8281787	0.81989	D	0.109446	0.78642	D	0.656	0.87085	.	.	0.976749809739	0.97650	0.4954562196367625	0.49466	1.6529612223	0.89572	0.864002943039	0.91700	D	0.851919	0.96638	D	0.30795	0.83589	D	0.31223	0.88754	D	0.974454343318939	0.70515	D	0.918208	0.74900	D	0.75297374	0.81041	0.49433094	0.70754	0.75297374	0.81042	0.49433094	0.70754	-10.556	0.80344	D	.	.	0.888	0.81977	P	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	4.562949	0.71921	25.7	0.99947569987169804	0.99913	0.97469	0.74950	D	AEFBI	0.676231	0.64134	D	0.661813352908955	0.77136	6.616859	0.652015032999308	0.78762	6.941761	0.999999996333639	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	5.33	4.46	0.53567	6.067000	0.70831	4.886000	0.45715	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:0.9278:0.0:0.0722	14.381	0.66476	958	0.09170	.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	914.83	35	chr5	180280488	.	C	T	914.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.042;DP=249;ExcessHet=0;FS=3.185;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.88;ReadPosRankSum=0.168;SOR=0.98	GT:AD:DP:GQ:PL	0/1:31,40:71:99:925,0,663	5	0	1	0
chr6	16327660	16327660	-	TGCTGATGCTGATGCTGA	exonic	ATXN1	.	nonframeshift insertion	ATXN1:NM_001128164:exon7:c.650_651insTCAGCATCAGCATCAGCA:p.Q216_Q217insHQHQHQ,ATXN1:NM_000332:exon8:c.650_651insTCAGCATCAGCATCAGCA:p.Q216_Q217insHQHQHQ	Spinocerebellar ataxia 1, Autosomal dominant	5	1492	14	0	11	25	0.00466978	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.056e-07	1.379e-06	0	1.421e-06	1.21e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.21e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	707.0	83	chr6	16327660	.	C	CTGCTGATGCTGATGCTGA	707.0	.	AC=2;AF=0.167;AN=12;BaseQRankSum=1.53;DP=363;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=26.16;ReadPosRankSum=1.37;SOR=0.622	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:1,18:19:28:1|1:16327633_GTGCTGC_G:727,28,0:16327633	5	1	0	0
chr6	25770982	25770982	A	G	exonic	SLC17A4	.	nonsynonymous SNV	SLC17A4:NM_005495:exon6:c.A676G:p.I226V,SLC17A4:NM_001286121:exon7:c.A514G:p.I172V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.131	0.00325108154751	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1377303426	6.842e-07	6.84e-07	0	1.375e-06	8.994e-07	0	0	.	.	0	0	0	0	0	0	8.994e-07	0	0	6.572e-06	6.567e-06	0	1.345e-05	0.0002	0	0	.	.	0	0	0	0	0.0002	0	0	0	0	0	0.025	0.47320	D	0.03	0.54159	D	0.001	0.07471	B	0.008	0.13708	B	0.526459	0.05232	N	1.283730	1	0.08975	N	0.685	0.16464	N	0.39	0.57419	T	-0.7	0.19933	N	0.173	0.18512	-1.0741	0.08535	T	0.022	0.09238	T	10	0.10363278	0.19062	T	0.003251	0.07177	T	0.131	0.35738	0.703	0.83962	0.211220785272	0.20719	0.20255652093873397	0.20172	0.064403949288	0.07180	0.257238537073	0.04567	T	0.065067	0.32594	T	-0.294487	0.09190	T	-0.660787	0.08214	T	0.0691507777275334	0.08532	T	0.215678	0.04576	T	0.10299597	0.24342	0.08127449	0.18457	0.10299597	0.24342	0.08127449	0.18457	-3.885	0.22077	T	.	.	0.073	0.04517	B	.;.	.;.	0.797823	0.11683	8.266	0.94008719930506524	0.24108	0.02786	0.07497	N	AEFBI	0.115808	0.22755	N	-1.33021435656782	0.03335	0.1487774	-1.40067729938232	0.03246	0.1510136	0.999504365187641	0.40062	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	5.69	-11.4	0.00070	-0.515000	0.06375	-2.264000	0.03979	0.756000	0.94297	0.000000	0.06391	0.000000	0.08366	0.970000	0.54328	0.1484:0.4544:0.2118:0.1854	3.228	0.06338	593	0.68665	.;Major facilitator superfamily domain|Major facilitator superfamily domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1667	2262.04	33	chr6	25770982	.	A	G	2262.04	.	AC=2;AF=0.167;AN=12;DP=251;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;QD=28.28;SOR=0.85	GT:AD:DP:GQ:PL	1/1:0,80:80:99:2282,240,0	5	1	0	0
chr6	31028378	31028407	GAGACCACCACAGCCTCTACTGAAGGCTCC	-	exonic	MUC22	.	nonframeshift deletion	MUC22:NM_001198815:exon3:c.2947_2976del:p.T996_T1005del,MUC22:NM_001318484:exon3:c.2956_2985del:p.T999_T1008del,MUC22:NM_001322469:exon3:c.2956_2985del:p.T999_G1777delinsSASTTGSETTTASTTSSETTMASIMGSETTMASTIGSETTKVSTASSKMTTVFTENSETTIASTTASETTTVSTAGSETIPASTAGSETTTTTSTEGSETTTASTEGSETTTASTESSETTTATTIGSETTTASTEGSETTTTSTEGSETTTASTEGSEITTVSTTGSETTTASTEGSETTTASTEGSELTTVSTTGSETITVSAEGSETTTVTTMGSETTTASTAGSETTTVSTAGSETTTASIEGSETTTVSSTGSETTTVSTTGTETTITSTEGSETTTVTTAGSETTAVYTTGSETTTTSTEGSETTTVSTTGSETTTASTADLETTTVSTSGSGTTTASTAGSETTTVYITGSKTTTASTEGSEATTVSTTSSETTTASTTGSEMTTVFTTVSETTTVSTIGSEATTSSAAGSEATTTSTEGSETTTASTAGSETTTASTAGSETTTASTAGSETTTASTSGSETNTACTTGSETSTPSSAGSETNTAFIIGSETTIASTASLEPTATSLTGSETTTVSITASGATAASTTVSSTTFVLTKATDVSIQPITNTPMSGTRTTGTRLTASSSVTMAPGMDFTASAASHTVPGIVLNTSGLGTSTMGASSTTSAHGVRTTTGSTREPTSSTFQETGPVSMGTNTVSMSHTPTNVIKPSGYLQPWAIILISLAAVVAAVGLSVGLSFCLRNLFFPLRYCGIYYPHGHSHSLGLDLNLGLGSGTFHSLGNALVHGGELEMGHGGTHGFGYGVGHGLSHIHGDGYGVNHGGHYGHGGGH*	.	421	1076	24	0	1	25	0.0110294	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0151	0.0106	0.0217	0.0746	.	0	0	0.0197	0.0001153	3	26028	rs200838925	0.0052	0.0050	0.0041	0.0062	0.0383	0.0051	0.0050	0.0371	0.0367	0.0188	0.0020	0.0004	0.0362	0.0027	0.0141	0.0014	0.0075	0.0383	0.0091	0.0098	0.0082	0.0100	0.0543	0.0087	0.0085	0.0490	0.0470	0.0173	0.0044	0.0036	0	0.0543	0.0018	0.0141	0.0018	0.0086	0.0348	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	10450.0	372	chr6	31028377	.	TGAGACCACCACAGCCTCTACTGAAGGCTCC	T	10450.0	.	AC=2;AF=0.167;AN=12;BaseQRankSum=1.19;DP=2926;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.167;MQ=59.88;MQRankSum=-0.161;QD=28.95;ReadPosRankSum=1.75;SOR=0.58	GT:AD:DP:GQ:PL	1/1:11,350:361:99:10470,1009,0	5	1	0	0
chr6	31271103	31271103	C	T	exonic	HLA-C	.	nonsynonymous SNV	HLA-C:NM_001243042:exon3:c.G589A:p.E197K,HLA-C:NM_002117:exon3:c.G589A:p.E197K	.	0	1403	119	0	0	119	0.0406838	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.156	.	.	.	0.1110	0.0746	0.0941	0.2012	0.1819	0.1147	0.0891	0.0572	0.0917647	14187	154602	rs1050357	0.0006	0.0078	0.0006	0.0006	0.0026	0.0005	0.0005	0.0020	0.0018	0.0003	0.0009	0.0002	0.0026	0.0004	0	0.0005	0.0004	0.0012	0.0003	0.0092	0.0002	0.0003	0.0004	0.0002	0.0001	0.0002	0.0002	0.0001	0	0	0	0	0.0002	0	0.0004	0	0	0.093	0.31532	T	0.02	0.59159	D	0.002	0.09854	B	0.006	0.12133	B	0.789762	0.09406	U	0.857122	0.426676	0.32312	P	.	.	.	5.6	0.00825	T	-3.04	0.63782	D	0.031	0.01004	-0.3665	0.73068	T	0.302	0.67297	T	9	0.0043652654	0.00089	T	.	.	.	0.227	0.52620	.	.	.	.	0.223966816434011	0.22311	0.55958892267	0.52497	0.365928024054	0.20246	T	0.015762	0.13159	T	-0.5327	0.00370	T	-0.394143	0.34067	T	0.0614167510250327	0.07389	T	0.586841	0.21439	T	.	.	.	.	.	.	.	.	-6.911	0.53380	T	.	.	0.143	0.35225	B	.;.;.	.;.;.	2.220269	0.28336	17.76	0.92642286042257171	0.22116	0.17864	0.20020	N	AEFBHCI	0.275676	0.39058	N	-0.179300595314162	0.33997	1.935281	-0.334977477670174	0.26977	1.493829	0.99999999125913	0.74766	0.766844	0.99359	0	0.672317	0.65289	0	0.851219	0.99655	0	0.638787	0.57140	0	.	.	2.71	2.71	0.31092	-0.711000	0.05121	.	.	-1.944000	0.00489	0.000000	0.06391	0.000000	0.08366	0.013000	0.09966	0.0:1.0:0.0:0.0	11.543	0.49932	934	0.15400	MHC class I-like antigen recognition-like|MHC class I alpha chain, alpha1 alpha2 domains;MHC class I-like antigen recognition-like|MHC class I alpha chain, alpha1 alpha2 domains;MHC class I-like antigen recognition-like|MHC class I alpha chain, alpha1 alpha2 domains	.	.	.	.	rs145793920	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.026998	0.005051	0.021739	0.024272	0.000000	0.043103	0.045732	0.041667	0.1667	2533.06	104	chr6	31271103	.	C	T	2533.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-0.696;DP=578;ExcessHet=0.4139;FS=3.583;MLEAC=2;MLEAF=0.167;MQ=53.16;MQRankSum=1.64;QD=14.07;ReadPosRankSum=1.19;SOR=0.458	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:59,49:108:99:0|1:31271098_G_A:1880,0,2235:31271098	4	0	2	0
chr6	31355338	31355338	T	C	exonic	HLA-B	.	nonsynonymous SNV	HLA-B:NM_005514:exon4:c.A874G:p.K292E	.	1	1059	462	0	0	462	0.17907	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.023	.	.	.	0.1873	0.2102	0.1521	0.2285	0.1750	0.1708	0.2005	0.2469	0.0006531	17	26028	rs41541515	1.925e-05	0.0003	1.916e-05	1.935e-05	6.078e-05	1.335e-05	1.149e-05	1.006e-05	3.76e-06	6.078e-05	0	0.0005	0	0	0	9.027e-06	3.34e-05	2.33e-05	6.22e-05	0.0011	8.537e-05	3.706e-05	7.636e-05	2.881e-05	2.058e-05	1.414e-05	6.92e-06	7.636e-05	0	0	0.0003	0	0.0001	0	5.327e-05	0	0	0.277	0.15665	T	1.0	0.01155	T	0.0	0.02946	B	0.002	0.06944	B	0.026571	0.25897	N	0.181463	0.999999	0.08975	N	.	.	.	2.69	0.12268	T	1.44	0.00794	N	0.014	0.00160	-0.9487	0.41194	T	0.003	0.00800	T	10	0.0029622018	0.00048	T	.	.	.	0.023	0.04649	.	.	.	.	0.09070377229671633	0.09003	0.307519446834	0.33047	.	.	.	0.030329	0.21526	T	-0.267069	0.12086	T	-0.621403	0.11076	T	0.00635520461095454	0.00071	T	0.121988	0.02209	T	0.23476017	0.46301	0.11296048	0.27259	0.23476017	0.46301	0.11296048	0.27258	2.737	0.00027	T	.	.	0.051	0.01328	B	.;.;.;.	.;.;.;.	-0.115766	0.03549	0.681	0.33208941956949856	0.01966	0.00329	0.01719	N	AEFDBHCI	0.042199	0.06517	N	-1.61921237088875	0.01172	0.05092742	-1.59245928361148	0.01701	0.07728939	0.99999239206602	0.74766	0.634777	0.41761	0	0.672317	0.65289	0	0.643519	0.47002	0	0.530356	0.10902	0	.	.	3.16	-1.11	0.09336	-2.713000	0.00887	.	.	-1.064000	0.01611	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.0:0.5345:0.1577:0.3077	4.780	0.12569	934	0.15400	.;Immunoglobulin-like domain|Immunoglobulin C1-set;Immunoglobulin-like domain|Immunoglobulin C1-set;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.220557	0.202020	0.191576	0.234234	0.150000	0.250000	0.253049	0.268939	0.1667	1332.09	139	chr6	31355338	.	T	C	1332.09	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-0.36;DP=752;ExcessHet=0.4139;FS=0.922;MLEAC=2;MLEAF=0.167;MQ=57.59;MQRankSum=-8.593;QD=4.72;ReadPosRankSum=1.97;SOR=0.626	GT:AD:DP:GQ:PL	0/1:90,32:122:99:611,0,2510	4	0	2	0
chr6	31355425	31355425	T	C	exonic	HLA-B	.	nonsynonymous SNV	HLA-B:NM_005514:exon4:c.A787G:p.R263G	.	0	927	595	0	0	595	0.242956	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.070	.	.	.	0.2427	0.2221	0.2151	0.2593	0.1977	0.2427	0.2413	0.2835	3.84e-05	1	26028	rs41545916	6.978e-05	0.0017	7.287e-05	6.665e-05	0.0004	5.837e-05	5.445e-05	6.35e-05	2.683e-05	6.07e-05	6.798e-05	0.0015	0	0	0.0004	3.628e-05	0.0001	8.195e-05	0.0003	0.0048	0.0004	0.0002	0.0003	0.0002	0.0002	0.0002	0.0002	0.0003	0	0.0003	0.0011	0.0003	0	0	0.0003	0.0007	0	1.0	0.00964	T	1.0	0.01155	T	0.001	0.07471	B	0.001	0.04355	B	0.017476	0.27716	N	0.165679	0.986046	0.24654	N	.	.	.	4.34	0.02341	T	3.3	0.00105	N	0.051	0.02272	-1.0151	0.25304	T	0.000	0.00114	T	10	0.0015430152	0.00017	T	.	.	.	0.070	0.20419	.	.	.	.	0.3942460569328166	0.39339	0.283348990526	0.30779	.	.	.	0.019855	0.15737	T	-0.268638	0.11909	T	-0.623656	0.10901	T	0.00166754910760778	0.00017	T	0.446155	0.12501	T	0.3324303	0.55668	0.11348576	0.27388	0.3324303	0.55669	0.11348576	0.27388	2.773	0.00026	T	.	.	0.034	0.00010	B	.;.	.;.	0.246319	0.06261	2.715	0.81034162823799205	0.13487	0.00542	0.02495	N	AEFDBHCI	0.071522	0.14241	N	-1.65128738568244	0.01029	0.04464861	-1.46518231632646	0.02636	0.1215648	0.999996036317984	0.74766	0.634777	0.41761	0	0.672317	0.65289	0	0.643519	0.47002	0	0.663205	0.64265	0	.	.	3.16	1.33	0.20958	1.006000	0.29449	.	.	-1.096000	0.01523	0.050000	0.21411	0.000000	0.08366	0.043000	0.14563	0.0:0.778:0.0:0.222	7.857	0.28649	934	0.15400	Immunoglobulin C1-set|Immunoglobulin-like domain|Immunoglobulin C1-set;Immunoglobulin C1-set|Immunoglobulin-like domain|Immunoglobulin C1-set	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.260000	0.227273	0.254076	0.257426	0.150000	0.267241	0.246951	0.265152	0.4167	1815.52	187	chr6	31355425	.	T	C	1815.52	.	AC=5;AF=0.417;AN=12;BaseQRankSum=-0.604;DP=951;ExcessHet=6.1542;FS=15.436;MLEAC=5;MLEAF=0.417;MQ=57.47;MQRankSum=-12.39;QD=2.26;ReadPosRankSum=-0.065;SOR=1.218	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:109,24:133:99:.:.:316,0,3390:.	1	0	5	0
chr6	31355485	31355485	G	A	exonic	HLA-B	.	nonsynonymous SNV	HLA-B:NM_005514:exon4:c.C727T:p.R243W	.	2	1475	45	0	0	45	0.015025	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.081	.	.	.	0.0756	0.0608	0.0649	0.1536	0.1036	0.0744	0.0567	0.0477	0.0612476	9469	154602	rs77665001	3.623e-05	0.0006	3.746e-05	3.498e-05	6.167e-05	2.813e-05	2.547e-05	2.757e-05	2.427e-05	6.167e-05	2.273e-05	0	5.218e-05	9.623e-05	0	3.658e-05	3.402e-05	0	2.113e-05	0.0007	0	4.407e-05	4.608e-05	3.51e-06	1.31e-06	.	.	4.608e-05	0	0	0	0	0	0	2.056e-05	0	0	0.01	0.56456	D	0.028	0.54934	D	0.087	0.24971	B	0.01	0.14941	B	0.072641	0.21396	U	0.232653	0.998462	0.22137	N	.	.	.	4.02	0.03178	T	-4.6	0.78976	D	0.091	0.06990	-0.9745	0.36235	T	0.005	0.01761	T	10	0.0033483803	0.00058	T	.	.	.	0.081	0.23632	.	.	.	.	0.4886347790284662	0.48783	0.845847542206	0.68292	.	.	.	0.049552	0.28339	T	-0.171938	0.24943	T	-0.484754	0.23942	T	0.0577189491966582	0.06805	T	0.156384	0.01374	T	0.33154765	0.55598	0.21594661	0.46203	0.33154765	0.55598	0.21594661	0.46202	-11.025	0.79796	D	.	.	0.138	0.30049	B	.;.	.;.	3.074374	0.41339	21.3	0.99498701463246364	0.67916	0.07090	0.13116	N	AEFDBHCI	0.280251	0.39411	N	-0.58319343736692	0.19454	1.018365	-0.652664211715875	0.18149	0.9682657	0.999991412378256	0.74766	0.634777	0.41761	0	0.672317	0.65289	0	0.643519	0.47002	0	0.530356	0.10902	0	.	.	3.16	-0.095	0.12979	0.423000	0.21032	.	.	-0.218000	0.08083	0.005000	0.17040	0.000000	0.08366	0.484000	0.28656	0.2793:0.0:0.3821:0.3386	2.536	0.04428	934	0.15400	Immunoglobulin C1-set|Immunoglobulin-like domain|Immunoglobulin C1-set;Immunoglobulin C1-set|Immunoglobulin-like domain|Immunoglobulin C1-set	.	.	.	.	chr6:31323262	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.038961	0.025253	0.024457	0.025000	0.050000	0.060345	0.064024	0.068182	0.08333	343.83	183	chr6	31355485	.	G	A	343.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.988;DP=990;ExcessHet=0;FS=22.36;MLEAC=1;MLEAF=0.083;MQ=58.07;MQRankSum=-11.22;QD=2.22;ReadPosRankSum=-0.561;SOR=2.382	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:136,19:155:99:0|1:31355477_G_C:354,0,5442:31355477	5	0	1	0
chr6	31356197	31356197	C	T	exonic	HLA-B	.	nonsynonymous SNV	HLA-B:NM_005514:exon3:c.G589A:p.E197K	.	8	1465	49	0	0	49	0.0164485	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.165	.	.	.	0.0189	0.0129	0.0199	0.0348	0.0234	0.0147	0.0177	0.0294	3.84e-05	1	26028	rs41545114	0.0004	0.0031	0.0003	0.0004	0.0014	0.0003	0.0003	0.0011	0.0010	0.0002	0.0014	0.0001	0.0013	0.0011	0.0003	0.0003	0.0003	0.0004	0.0004	0.0059	0.0004	0.0004	0.0007	0.0003	0.0002	0.0002	0.0001	0.0004	0	0.0007	0	0	0.0008	0	0.0003	0.0016	0	0.012	0.65419	D	0.021	0.58089	D	0.632	0.40232	P	0.417	0.44992	B	0.805050	0.09294	U	0.866418	0.896629	0.27782	N	.	.	.	5.6	0.00825	T	-3.0	0.62343	D	0.082	0.05799	-1.0564	0.12672	T	0.010	0.03492	T	10	0.0079647	0.00181	T	.	.	.	0.165	0.42395	.	.	.	.	0.2591834140118568	0.25832	0.873438287621	0.69479	.	.	.	0.016952	0.13915	T	-0.0549219	0.43696	T	-0.316668	0.42939	T	0.0505667294951351	0.05598	T	0.630337	0.25361	T	0.36580047	0.58273	0.28238165	0.54226	0.36580047	0.58274	0.28238165	0.54225	-7.553	0.57982	D	.	.	0.117	0.42433	B	.;.;.	.;.;.	3.080477	0.41440	21.4	0.94945969232258332	0.25847	0.16475	0.19406	N	AEFDBHCI	0.108565	0.21592	N	-0.152863992918151	0.35113	2.012754	-0.417645654591778	0.24479	1.340699	0.999995060563035	0.74766	0.766844	0.99359	0	0.672317	0.65289	0	0.851219	0.99655	0	0.554799	0.18163	0	.	.	3.18	1.3	0.20778	-0.350000	0.07769	.	.	0.452000	0.21348	0.000000	0.06391	0.000000	0.08366	0.060000	0.15972	0.0:0.7684:0.0:0.2316	7.479	0.26562	934	0.15400	MHC class I-like antigen recognition-like|MHC class I alpha chain, alpha1 alpha2 domains;MHC class I-like antigen recognition-like|MHC class I alpha chain, alpha1 alpha2 domains;MHC class I-like antigen recognition-like|MHC class I alpha chain, alpha1 alpha2 domains	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.004956	0.000000	0.001401	0.004673	0.000000	0.000000	0.006329	0.007692	0.08333	82.83	91	chr6	31356197	.	C	T	82.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.296;DP=391;ExcessHet=0;FS=5.552;MLEAC=1;MLEAF=0.083;MQ=47.18;MQRankSum=-1.209;QD=2.86;ReadPosRankSum=0.728;SOR=1.469	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:25,4:29:93:0|1:31356192_G_A:93,0,1036:31356192	5	0	1	0
chr6	31356716	31356717	CA	0	exonic	HLA-B	.	.	.	.	0	89	17	5	115	142	0.131707	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5833	911.56	68	chr6	31356716	.	CA	*	911.56	.	AC=7;AF=0.583;AN=12;BaseQRankSum=-2.317;DP=301;ExcessHet=3.1439;FS=8.639;MLEAC=7;MLEAF=0.583;MQ=57.29;MQRankSum=-5.189;QD=3.03;ReadPosRankSum=0.379;SOR=1.131	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,11:11:33:1|1:31356711_C_CGGAG:495,33,0:31356711	1	2	3	0
chr6	31356719	31356720	GT	0	exonic	HLA-B	.	.	.	.	10	742	10	2	758	772	0.00934579	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5833	959.56	67	chr6	31356719	.	GT	*	959.56	.	AC=7;AF=0.583;AN=12;BaseQRankSum=-1.85;DP=306;ExcessHet=3.1439;FS=9.668;MLEAC=7;MLEAF=0.583;MQ=57.16;MQRankSum=-5.204;QD=3.14;ReadPosRankSum=0.145;SOR=1.179	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,11:11:33:1|1:31356711_C_CGGAG:495,33,0:31356711	1	2	3	0
chr6	31356827	31356827	T	0	exonic	HLA-B	.	.	.	.	73	133	388	93	835	1409	0.683333	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.75	4040.99	132	chr6	31356827	.	T	*	4040.99	.	AC=9;AF=0.75;AN=12;DP=671;ExcessHet=0;FS=3.165;MLEAC=9;MLEAF=0.75;MQ=54.87;QD=6.07;SOR=0.783	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,78:78:99:1|1:31356809_C_T:3505,235,0:31356809	0	3	3	0
chr6	31625601	31625601	T	C	exonic	PRRC2A	.	nonsynonymous SNV	PRRC2A:NM_004638:exon7:c.T749C:p.M250T,PRRC2A:NM_080686:exon7:c.T749C:p.M250T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.142	0.0178076993305	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.022e-07	6.841e-07	0	1.42e-06	9.161e-07	0	0	.	.	0	0	0	0	0	0	9.161e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.16	0.31427	T	0.985	0.61118	D	0.637	0.51992	P	0.000005	0.62929	D	0.000000	0.995498	0.42717	D	2.105	0.58435	M	4.53	0.01980	T	-4.28	0.76334	D	0.586	0.61680	-0.8368	0.52858	T	0.008	0.02720	T	10	0.43278176	0.57599	T	0.017808	0.39652	T	0.142	0.37995	0.195	0.10705	0.128874641272	0.12493	0.5487022548939708	0.54796	0.180877748463	0.20346	0.868078529835	0.92292	D	0.045246	0.27062	T	-0.000470291	0.51590	T	-0.238452	0.50949	T	0.941546738147736	0.61490	D	0.757724	0.38135	T	0.6803623	0.76989	0.726591	0.83849	0.6803623	0.76990	0.726591	0.83850	-10.319	0.75799	D	.	.	0.987	0.96107	P	.;.	.;.	3.901954	0.56841	23.8	0.93194787374129984	0.22862	0.76208	0.37359	D	AEFDBCI	0.190166	0.31740	N	0.457200889062192	0.64613	4.719805	0.475887910268732	0.66395	4.94659	0.999999757296763	0.74766	0.706548	0.73137	0	0.697927	0.68747	0	0.697927	0.64325	0	0.714379	0.83352	0	.	.	5.06	5.06	0.67838	3.242000	0.51082	.	.	0.639000	0.52094	1.000000	0.71638	1.000000	0.68203	0.982000	0.59238	0.0:0.0:0.0:1.0	13.917	0.63410	878	0.29785	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	2026.55	105	chr6	31625601	.	T	C	2026.55	.	AC=6;AF=0.5;AN=12;BaseQRankSum=-2.14;DP=643;ExcessHet=11.5949;FS=279.671;MLEAC=6;MLEAF=0.5;MQ=60;MQRankSum=0;QD=3.37;ReadPosRankSum=1.33;SOR=9.869	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:78,23:101:99:0|1:31625601_T_C:367,0,2727:31625601	0	0	6	0
chr6	31625602	31625602	G	A	exonic	PRRC2A	.	nonsynonymous SNV	PRRC2A:NM_004638:exon7:c.G750A:p.M250I,PRRC2A:NM_080686:exon7:c.G750A:p.M250I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.179	0.0251130273271	7.7e-05	.	1.784e-05	0.0002	0	0	0	0	0	0	1.29e-05	2	154602	rs145609055	3.51e-06	4.788e-06	5.554e-06	1.42e-06	0.0001	1.03e-06	7.5e-07	4.163e-05	2.527e-05	0.0001	0	0	0	0	0	9.159e-07	0	0	6.577e-06	6.567e-06	1.286e-05	0	2.417e-05	0	0	.	.	2.417e-05	0	0	0	0	0	0	0	0	0	0.123	0.27544	T	0.045	0.49390	D	0.817	0.45613	P	0.292	0.40739	B	0.000005	0.62929	D	0.000000	0.999301	0.46608	D	2.105	0.58435	M	4.62	0.01834	T	-1.88	0.43906	N	0.361	0.40565	-0.6283	0.63643	T	0.004	0.01400	T	10	0.19789547	0.35739	T	0.025113	0.48090	D	0.179	0.44899	0.192	0.10304	0.19168177325	0.18762	0.40434125802200627	0.40350	0.17321795193	0.19509	0.804894983768	0.82710	D	0.021964	0.17018	T	-0.199437	0.20885	T	-0.287586	0.46022	T	0.45686399936676	0.31050	T	0.867413	0.56831	D	0.274247	0.50490	0.26731342	0.52588	0.274247	0.50490	0.26731342	0.52587	-5.343	0.40366	T	.	.	0.916	0.88221	P	.;.	.;.	4.189641	0.63134	24.5	0.9887765022119781	0.47771	0.95609	0.65407	D	AEFDBCI	0.573860	0.57688	D	0.38079905834961	0.60382	4.226512	0.455960616804997	0.65101	4.781292	0.999999999999631	0.74766	0.706548	0.73137	0	0.697927	0.68747	0	0.697927	0.64325	0	0.714379	0.83352	0	.	.	5.06	5.06	0.67838	3.736000	0.54774	.	.	0.650000	0.52971	1.000000	0.71638	1.000000	0.68203	0.970000	0.54328	0.0:0.0:1.0:0.0	17.348	0.87202	878	0.29785	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	2340.55	105	chr6	31625602	.	G	A	2340.55	.	AC=6;AF=0.5;AN=12;BaseQRankSum=-3.649;DP=645;ExcessHet=11.5949;FS=309.606;MLEAC=6;MLEAF=0.5;MQ=60;MQRankSum=0;QD=3.89;ReadPosRankSum=1.19;SOR=8.622	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:78,23:101:99:0|1:31625601_T_C:367,0,2727:31625601	0	0	6	0
chr6	32181363	32181363	C	T	exonic	AGER	.	nonsynonymous SNV	AGER:NM_001136:exon10:c.G1106A:p.R369Q,AGER:NM_001206929:exon10:c.G1154A:p.R385Q,AGER:NM_001206932:exon10:c.G1064A:p.R355Q	.	415	1020	79	8	0	95	0.0444965	.	.	.	699532	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.039	.	0.0024	0.00958466	0.0074	0.0015	0.0288	0.0080	0	0.0020	0.0067	0.0201	0.0068628	1061	154602	rs3176931	0.0035	0.0035	0.0029	0.0040	0.0236	0.0034	0.0034	0.0224	0.0219	0.0007	0.0236	7.677e-05	0.0061	0.0002	0.0167	0.0012	0.0085	0.0204	0.0034	0.0034	0.0036	0.0032	0.0184	0.0032	0.0031	0.0153	0.0142	0.0012	0	0.0113	0	0.0110	9.407e-05	0.0102	0.0019	0.0080	0.0184	0.532	0.91255	T	0.704	0.09052	T	0.007	0.14184	B	0.003	0.08700	B	0.375220	0.04386	N	1.379500	1	0.08975	N	.	.	.	1.19	0.37910	T	-0.47	0.52128	N	0.096	0.07811	-1.0536	0.13413	T	0.017	0.06902	T	10	0.002130419	0.00031	T	.	.	.	0.039	0.10176	.	.	0.0716867268079	0.06686	0.17818856528763435	0.17737	0.176059839668	0.19819	0.226081043482	0.01691	T	0.005723	0.24916	T	-0.636222	0.00088	T	-0.668412	0.07711	T	0.00302830581673903	0.00032	T	0.408059	0.10511	T	0.016678704	0.00214	0.035600707	0.02844	0.016678704	0.00214	0.035600707	0.02843	-4.933	0.37548	T	.	.	0.069	0.06024	B	.;.;.;.;.	.;.;.;.;.	-0.020336	0.04144	0.990	0.811079802221224	0.13523	0.01926	0.05878	N	AEFBCI	0.022353	0.01107	N	-2.21518179078559	0.00071	0.003031937	-2.27190542192637	0.00077	0.003372642	0.999999999933849	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.636168	0.56350	0	.	.	5.29	-8.51	0.00804	-2.400000	0.01127	.	.	-1.756000	0.00682	0.000000	0.06391	0.000000	0.08366	0.052000	0.15357	0.0:0.6835:0.1041:0.2124	14.712	0.68856	929	0.16858	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.013072	0.005051	0.002717	0.047872	0.000000	0.000000	0.003049	0.045455	0.1667	3679.04	37	chr6	32181363	.	C	T	3679.04	.	AC=2;AF=0.167;AN=12;DP=306;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;QD=31.99;SOR=0.941	GT:AD:DP:GQ:PL	1/1:0,115:115:99:3699,345,0	5	1	0	0
chr6	32521981	32521981	T	0	exonic	HLA-DRB5	.	.	.	.	195	584	309	195	239	938	0.374397	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4	6769.44	219	chr6	32521981	.	T	*	6769.44	.	AC=4;AF=0.4;AN=10;BaseQRankSum=0.806;DP=1195;ExcessHet=0.7136;FS=5.046;MLEAC=4;MLEAF=0.4;MQ=51.87;MQRankSum=-7.363;QD=7.31;ReadPosRankSum=-4.572;SOR=0.671	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:224,68:292:99:0|1:32521930_A_C:2084,0,9201:32521930	1	0	4	1
chr6	32589652	32589652	C	T	exonic	HLA-DRB1	.	nonsynonymous SNV	HLA-DRB1:NM_002124:exon1:c.G91A:p.D31N	.	1	1468	50	3	0	56	0.0187166	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.089	0.00201232087945	0.0001	0.000199681	0.0005	0.0001	0.0004	0.0004	0	9.232e-05	0	0.0026	0.0003687	57	154602	rs372634318	0.0004	0.0003	0.0002	0.0005	0.0166	0.0003	0.0003	0.0126	0.0112	0	0.0001	0	0.0004	2.422e-05	0.0166	2.577e-05	0.0005	0.0045	0.0001	0.0001	1.844e-05	0.0002	0.0037	7.345e-05	5.846e-05	0.0020	0.0015	0	0	0	0	0.0003	0	0	4.035e-05	0	0.0037	0.0	0.91255	D	0.071	0.43531	T	0.987	0.61912	D	0.914	0.64984	D	0.396439	0.04508	N	1.376800	1	0.08975	N	.	.	.	8.35	0.00252	T	-1.93	0.44852	N	0.438	0.47672	-0.8790	0.49840	T	0.001	0.00255	T	10	0.017746776	0.00381	T	0.002012	0.03642	T	0.089	0.25827	.	.	0.447901950027	0.44410	0.15851251124645957	0.15772	0.75651630784	0.64033	.	.	.	0.012023	0.10639	T	-0.46956	0.00855	T	-0.451571	0.27523	T	0.173749442671835	0.18832	T	0.757524	0.38090	T	0.31595802	0.54297	0.2519697	0.50818	0.31595802	0.54297	0.2519697	0.50817	-7.629	0.58513	D	.	.	0.100	0.16929	B	.	.	3.743977	0.53625	23.4	0.99823868945339478	0.90677	0.07660	0.13666	N	ALL	0.253131	0.37268	N	0.00761355807847777	0.42201	2.538276	-0.200087543572262	0.31534	1.785499	0.999999814549714	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.584781	0.30282	0	0.687789	0.68303	1	.	.	4.4	2.53	0.29594	0.909000	0.28180	.	.	0.595000	0.32841	0.785000	0.29533	0.000000	0.08366	0.010000	0.09038	0.0:0.7072:0.1881:0.1047	6.172	0.19638	934	0.15400	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.005371	0.000000	0.000000	0.031250	0.000000	0.000000	0.000000	0.011450	0.1667	6300.04	174	chr6	32589652	.	C	T	6300.04	.	AC=2;AF=0.167;AN=12;DP=953;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.167;MQ=59.94;QD=34.53;SOR=1.048	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,142:142:99:1|1:32589652_C_T:6320,427,0:32589652	5	1	0	0
chr6	33772728	33772728	T	C	exonic	LEMD2	.	nonsynonymous SNV	LEMD2:NM_001143944:exon8:c.A506G:p.N169S,LEMD2:NM_001348709:exon9:c.A506G:p.N169S,LEMD2:NM_001348710:exon9:c.A1013G:p.N338S,LEMD2:NM_181336:exon9:c.A1412G:p.N471S	Cataract 46, juvenile-onset, Autosomal recessive	429	1092	1	0	0	1	0.000457666	.	.	.	4163405	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.211	0.00861643987822	.	.	0.0001	0	0	0	0	0.0002	0	6.149e-05	0.0001035	16	154602	rs754334541	6.568e-05	6.635e-05	6.126e-05	7.014e-05	0.0003	5.495e-05	5.107e-05	6.092e-05	4.484e-05	0	0	0.0004	2.519e-05	3.754e-05	0.0003	6.115e-05	9.935e-05	6.957e-05	5.255e-05	5.253e-05	5.138e-05	5.378e-05	0.0004	2.556e-05	1.83e-05	7.279e-05	3.025e-05	2.412e-05	0	0	0.0006	0	0	0	4.41e-05	0	0.0004	0.217	0.46910	T	0.0	0.92824	D	0.705	0.41986	P	0.355	0.42984	B	0.000130	0.49741	D	0.085235	0.999242	0.52935	D	2.445	0.70938	M	.	.	.	-4.71	0.79915	D	0.405	0.44570	-0.8988	0.48115	T	0.124	0.42757	T	9	0.32252622	0.49601	T	0.008616	0.22779	T	0.211	0.50185	0.754	0.88402	0.538561335957	0.53506	0.8008757854619355	0.80041	1.36812693153	0.84473	0.563203692436	0.47720	T	0.414051	0.83820	T	-0.300596	0.08604	T	-0.409882	0.32238	T	0.278540700674057	0.24110	T	0.90391	0.66280	D	0.10133952	0.23937	0.13030757	0.31314	0.10133952	0.23937	0.13030757	0.31313	-11.86	0.84162	D	.	.	0.124	0.60751	B	.;.;.;.	.;.;.;.	3.200518	0.43526	21.7	0.99775713687680323	0.86346	0.84600	0.43683	D	ALL	0.521944	0.54616	D	0.0941739997124988	0.46190	2.863317	0.17775129481006	0.48630	3.076392	0.99999999993761	0.74766	0.730579	0.87903	0	0.702456	0.74545	0	0.698795	0.65105	0	0.648885	0.59868	0	.	.	5.35	4.18	0.48473	4.308000	0.58922	2.377000	0.32464	0.665000	0.62972	1.000000	0.71638	0.999000	0.35428	0.777000	0.36790	0.0:0.0726:0.0:0.9274	11.136	0.47600	704	0.57414	Man1-Src1p-C-terminal domain;Man1-Src1p-C-terminal domain;Man1-Src1p-C-terminal domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1667	2586.04	58	chr6	33772728	.	T	C	2586.04	.	AC=2;AF=0.167;AN=12;DP=346;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;QD=30.42;SOR=0.979	GT:AD:DP:GQ:PL	1/1:0,85:85:99:2606,255,0	5	1	0	0
chr6	38815553	38815553	A	G	exonic	DNAH8	.	nonsynonymous SNV	DNAH8:NM_001371:exon25:c.A2768G:p.H923R,DNAH8:NM_001206927:exon26:c.A3419G:p.H1140R	.	425	1094	3	0	0	3	0.00136924	.	.	.	239913	Primary_ciliary_dyskinesia	Human_Phenotype_Ontology:HP:0012265,MONDO:MONDO:0016575,MedGen:C0008780,OMIM:PS244400,Orphanet:244	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.128	.	.	0.00798722	0.0041	0	0.0004	0	0	3.002e-05	0.0011	0.0298	0.0035963	556	154602	rs377516809	0.0017	0.0017	0.0009	0.0025	0.0281	0.0017	0.0016	0.0272	0.0268	8.962e-05	0	0	2.52e-05	0	0.0007	1.169e-05	0.0013	0.0281	0.0009	0.0009	0.0006	0.0012	0.0278	0.0008	0.0007	0.0240	0.0225	0	0	0	0	0.0002	0	0	2.94e-05	0.0009	0.0278	0.422	0.09776	T	.	.	.	0.017	0.17573	B	0.003	0.08700	B	0.000081	0.52346	D	0.130506	0.662714	0.33067	D	1.21	0.30464	L	0.35	0.58029	T	-0.73	0.23372	N	0.449	0.48689	-1.1100	0.03070	T	0.037	0.15899	T	10	0.008993506	0.00203	T	.	.	.	0.128	0.35103	.	.	0.717392553567	0.71491	0.3847445113683057	0.38389	0.150328258347	0.16959	0.497708946466	0.38508	T	0.002196	0.01594	T	-0.389989	0.02691	T	-0.312019	0.43441	T	0.0345090785547442	0.02725	T	0.727427	0.34191	T	0.1872681	0.40174	0.1703512	0.39137	0.18060398	0.39190	0.16675694	0.38506	-2.182	0.03954	T	.	.	0.209	0.50025	B	.;.;.	.;.;.	2.791086	0.36690	20.3	0.95934945667142713	0.28225	0.95366	0.64440	D	AEFBI	0.735864	0.68155	D	-0.210741246795145	0.32693	1.846498	0.0459148333360851	0.41875	2.523123	0.999861014243844	0.44398	0.623552	0.39893	0	0.610034	0.51514	0	0.573888	0.23631	0	0.579976	0.35079	0	.	.	5.74	5.74	0.90070	6.425000	0.73295	8.048000	0.76344	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	1.0:0.0:0.0:0.0	14.28	0.65756	490	0.76723	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.005035	0.000000	0.000000	0.005848	0.000000	0.008621	0.003049	0.018939	0.1667	2023.04	36	chr6	38815553	.	A	G	2023.04	.	AC=2;AF=0.167;AN=12;DP=250;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;QD=28.49;SOR=0.779	GT:AD:DP:GQ:PL	1/1:0,71:71:99:2043,213,0	5	1	0	0
chr6	39012311	39012311	C	T	exonic	DNAH8	.	nonsynonymous SNV	DNAH8:NM_001371:exon89:c.C12817T:p.R4273C,DNAH8:NM_001206927:exon90:c.C13468T:p.R4490C	.	434	1083	5	0	0	5	0.00230309	.	.	.	239935	Primary_ciliary_dyskinesia	Human_Phenotype_Ontology:HP:0012265,MONDO:MONDO:0016575,MedGen:C0008780,OMIM:PS244400,Orphanet:244	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.414	.	7.7e-05	0.0115815	0.0050	0.0003	0.0008	0.0116	0.0002	0.0002	0.0022	0.0293	0.0044631	690	154602	rs78849281	0.0028	0.0028	0.0020	0.0035	0.0339	0.0027	0.0027	0.0323	0.0317	0.0002	6.71e-05	0	0.0339	9.365e-05	0.0007	8.281e-05	0.0021	0.0285	0.0016	0.0016	0.0012	0.0020	0.0294	0.0014	0.0014	0.0255	0.0240	0.0001	0	0.0002	0	0.0158	0.0003	0	8.821e-05	0.0009	0.0294	0.001	0.78490	D	.	.	.	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.715	0.94732	H	2.84	0.10674	T	-7.43	0.94843	D	0.808	0.83371	-0.7568	0.57578	T	0.119	0.41799	T	10	0.0075264275	0.00171	T	.	.	.	0.414	0.72479	.	.	0.617481672061	0.61438	0.7577948668358869	0.75727	0.673258825652	0.59583	0.602618634701	0.53275	T	0.255742	0.62657	T	-0.187723	0.22592	T	-0.000691574	0.70290	D	0.143817794314389	0.16600	T	0.957104	0.83854	D	0.7857521	0.83009	0.6811706	0.81264	0.8037435	0.84147	0.5543644	0.74227	-10.566	0.77225	D	.	.	0.405	0.66854	A	.;.	.;.	3.699783	0.52758	23.3	0.99846909662126826	0.92663	0.96428	0.69091	D	AEFBI	0.425123	0.49002	N	0.904629227555576	0.91984	11.17057	0.810583749138536	0.90519	10.44474	0.0613127230988003	0.15227	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	6.16	5.27	0.73797	1.399000	0.34175	3.267000	0.37132	0.599000	0.40250	0.998000	0.41325	0.998000	0.33993	0.984000	0.60418	0.2627:0.7373:0.0:0.0	14.579	0.67871	703	0.57489	Dynein heavy chain domain;Dynein heavy chain domain	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.004028	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.022727	0.1667	3594.04	40	chr6	39012311	.	C	T	3594.04	.	AC=2;AF=0.167;AN=12;DP=301;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;QD=32.97;SOR=1.308	GT:AD:DP:GQ:PL	1/1:0,109:109:99:3614,327,0	5	1	0	0
chr6	39086015	39086015	G	C	exonic	GLP1R	.	nonsynonymous SNV	GLP1R:NM_002062:exon13:c.G1334C:p.S445T	.	412	1106	4	0	0	4	0.00180505	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.097	.	.	0.00319489	0.0020	0	0.0003	0	0	3.002e-05	0.0011	0.0147	0.0017917	277	154602	rs201672448	0.0009	0.0009	0.0005	0.0014	0.0150	0.0009	0.0009	0.0143	0.0140	0	2.236e-05	0	7.557e-05	0	0.0005	5.396e-06	0.0009	0.0150	0.0005	0.0005	0.0004	0.0006	0.0147	0.0004	0.0004	0.0120	0.0110	0	0	0	0	0	0	0	2.941e-05	0.0005	0.0147	0.207	0.19854	T	0.125	0.35330	T	0.022	0.18677	B	0.004	0.10090	B	0.000017	0.62929	D	0.072732	0.999056	0.45965	D	2.78	0.81115	M	0.7	0.51474	T	-1.04	0.27259	N	0.089	0.06720	-1.0108	0.26666	T	0.097	0.36522	T	10	0.0060991645	0.00137	T	.	.	.	0.097	0.27909	.	.	0.742283290031	0.73996	0.4908779703742634	0.49007	0.649209194799	0.58240	0.331426739693	0.15150	T	0.289449	0.66224	T	-0.43353	0.01412	T	-0.383188	0.35348	T	0.0655294104330482	0.08010	T	0.630737	0.24588	T	0.1698624	0.37527	0.27198887	0.53105	0.1698624	0.37527	0.27198887	0.53104	-3.526	0.16798	T	.	.	0.068	0.02894	B	.	.	2.328705	0.29829	18.25	0.95904166326164608	0.28139	0.94453	0.61214	D	AEFDBI	0.638283	0.61675	D	0.0388317285984963	0.43630	2.652185	0.188912085073855	0.49238	3.129465	0.999999161915244	0.74766	0.59774	0.34471	0	0.596491	0.49125	0	0.616094	0.41390	0	0.542086	0.14980	0	.	.	5.63	5.63	0.86108	5.695000	0.67940	9.268000	0.79613	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.611000	0.31665	0.0:0.0:1.0:0.0	19.710	0.96085	824	0.40336	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003528	0.000000	0.000000	0.008772	0.000000	0.000000	0.003049	0.015152	0.1667	2677.04	36	chr6	39086015	.	G	C	2677.04	.	AC=2;AF=0.167;AN=12;DP=264;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;QD=31.87;SOR=1.013	GT:AD:DP:GQ:PL	1/1:0,84:84:99:2697,252,0	5	1	0	0
chr6	43348445	43348445	A	T	exonic	ZNF318	.	nonsynonymous SNV	ZNF318:NM_014345:exon6:c.T2951A:p.I984N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.129	.	.	0.00219649	0.0009	9.612e-05	8.637e-05	0	0	1.498e-05	0	0.0068	0.0008215	127	154602	rs200879474	0.0004	0.0004	0.0002	0.0006	0.0071	0.0004	0.0004	0.0066	0.0064	0	2.236e-05	0	0	0	0.0005	1.799e-06	0.0005	0.0071	0.0003	0.0003	0.0002	0.0005	0.0098	0.0003	0.0002	0.0075	0.0068	7.222e-05	0	0	0	0	0	0	0	0	0.0098	0.001	0.78490	D	0.043	0.49942	D	0.988	0.62325	D	0.837	0.59984	P	0.000525	0.43581	D	0.239316	0.603643	0.34850	D	2.3	0.65703	M	2.33	0.16492	T	-2.0	0.46146	N	0.582	0.60325	-1.0346	0.18983	T	0.063	0.26172	T	10	0.004310578	0.00087	T	.	.	.	0.129	0.35316	0.189	0.09907	0.533325340949	0.52981	0.2491202305777943	0.24826	0.477027003376	0.46822	0.525344610214	0.42379	T	0.183588	0.53598	T	-0.396855	0.02428	T	-0.339385	0.40414	T	0.123587241737642	0.14778	T	0.89791	0.64303	D	0.39195234	0.60170	0.37551263	0.62694	0.39195234	0.60171	0.37551263	0.62693	-9.636	0.71703	D	.	.	0.621	0.69730	P	.	.	4.556541	0.71761	25.7	0.99410894136725292	0.63263	0.96034	0.67234	D	AEFGBI	0.467509	0.51471	N	0.497183944019686	0.66925	5.013714	0.567742900786107	0.72642	5.841954	0.999996838982928	0.74766	0.722319	0.85440	0	0.698795	0.70079	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	6.03	6.03	0.97798	4.750000	0.61857	11.092000	0.85948	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.9301:0.0:0.0699:0.0	10.827	0.45844	177	0.93145	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1667	3529.04	37	chr6	43348445	.	A	T	3529.04	.	AC=2;AF=0.167;AN=12;DP=306;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;QD=30.96;SOR=0.965	GT:AD:DP:GQ:PL	1/1:0,114:114:99:3549,342,0	5	1	0	0
chr6	56616981	56616981	T	C	exonic	DST	.	nonsynonymous SNV	DST:NM_001723:exon24:c.A6486G:p.I2162M	Epidermolysis bullosa simplex, autosomal recessive 2, Autosomal recessive	1	1520	1	0	0	1	0.000328839	.	.	.	832090	Hereditary_sensory_and_autonomic_neuropathy_type_6|Epidermolysis_bullosa_simplex_3,_localized_or_generalized_intermediate,_with_BP230_deficiency	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653,Orphanet:314381|MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425,Orphanet:412181	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.259	0.0116632090588	.	.	.	.	.	.	.	.	.	.	.	.	.	rs966512494	8.933e-06	8.893e-06	8.195e-06	9.681e-06	1.173e-05	4.99e-06	3.84e-06	6.54e-06	5.04e-06	0	0	0	0	0	0	1.173e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.005	0.72224	D	0.996	0.68779	D	0.944	0.68059	D	.	.	.	.	.	.	.	.	.	.	-0.75	0.73311	T	-0.47	0.15178	N	0.394	0.43514	-0.6368	0.63282	T	0.328	0.69614	T	7	0.35558313	0.52317	T	0.011663	0.29506	T	0.259	0.57090	0.388	0.40951	0.651532293328	0.64863	.	.	.	.	.	.	.	.	.	.	-0.00855004	0.50468	T	-0.250058	0.49812	T	0.487777709960938	0.32183	T	0.476352	0.14285	T	.	.	.	.	.	.	.	.	-3.542	0.17025	T	.	.	0.150	0.33063	B	.	.	1.530727	0.19640	14.36	0.99449277969234728	0.65172	0.44123	0.27249	N	AEFBCI	0.187305	0.31460	N	0.0313893060405965	0.43287	2.624616	-0.0609323942096347	0.37021	2.162069	0.104289083369882	0.16470	0.460665	0.09802	0	0.546412	0.12157	0	0.575934	0.27490	0	0.491896	0.07777	0	.	.	5.77	0.272	0.14899	-0.651000	0.05471	1.030000	0.23473	0.665000	0.62972	0.078000	0.22289	1.000000	0.68203	0.991000	0.66497	0.4386:0.0:0.2269:0.3345	7.153	0.24798	294	0.88270	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	952.83	35	chr6	56616981	.	T	C	952.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.91;DP=257;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.08;ReadPosRankSum=-0.097;SOR=0.779	GT:AD:DP:GQ:PL	0/1:51,35:86:99:963,0,1403	5	0	1	0
chr6	80007990	80007990	G	C	exonic	TTK	.	nonsynonymous SNV	TTK:NM_001166691:exon3:c.G321C:p.E107D,TTK:NM_003318:exon3:c.G321C:p.E107D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.607	0.126467273608	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	8.893e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.035	0.92824	D	0.999	0.77913	D	0.993	0.81110	D	0.000000	0.84330	D	0.000000	0.938546	0.37229	D	2.62	0.76659	M	-2.54	0.89496	D	-1.53	0.56787	N	0.406	0.46649	0.480	0.90261	D	0.698	0.89595	D	10	0.39968592	0.55478	T	0.126467	0.80813	D	0.607	0.84559	0.377	0.39156	0.756102065754	0.75388	0.29326060996924297	0.29239	0.586303879314	0.54233	0.593461692333	0.51983	T	0.093775	0.51827	T	0.153432	0.69590	D	-0.0173821	0.69202	D	0.93341064453125	0.60015	D	0.887811	0.64303	D	0.7694828	0.82017	0.34171048	0.59907	0.7694828	0.82018	0.34171048	0.59906	-9.025	0.67858	D	.	.	0.446	0.62023	A	.;.;.;.;.;.	.;.;.;.;.;.	4.273798	0.65043	24.8	0.99838627551170323	0.91972	0.91788	0.54264	D	AEFBI	0.340775	0.43748	N	0.324956302953043	0.57431	3.910505	0.282171109977361	0.54497	3.614648	0.999919670358034	0.45857	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.613276	0.41899	0	.	.	5.66	2.91	0.32903	2.081000	0.41220	5.042000	0.46920	-0.106000	0.15538	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.2117:0.0:0.7883:0.0	11.092	0.47344	827	0.39843	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.25	528.25	25	chr6	80007990	.	G	C	528.25	.	AC=1;AF=0.25;AN=4;BaseQRankSum=-2.218;DP=160;ExcessHet=0;FS=37.347;MLEAC=2;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.09;ReadPosRankSum=0.65;SOR=5.547	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:20,15:35:99:0|1:80007990_G_C:534,0,743:80007990	1	0	1	4
chr6	80007992	80007996	GTTTT	-	exonic	TTK	.	stopgain	TTK:NM_001166691:exon3:c.323_327del:p.F109*,TTK:NM_003318:exon3:c.323_327del:p.F109*	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0004	0.0020	0.0005	0.0004	0.0005	0.0004	0.0004	0.0005	0.0005	0.0004	2.242e-05	0.0001	0.0001	0	0	0.0005	0.0004	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	558.79	34	chr6	80007991	.	AGTTTT	A	558.79	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.749;DP=232;ExcessHet=0;FS=37.648;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=15.52;ReadPosRankSum=-0.05;SOR=5.668	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:20,16:36:99:0|1:80007990_G_C:569,0,740:80007990	5	0	1	0
chr6	80007996	80007996	-	CCCCC	exonic	TTK	.	frameshift insertion	TTK:NM_001166691:exon3:c.327_328insCCCCC:p.A110Pfs*7,TTK:NM_003318:exon3:c.327_328insCCCCC:p.A110Pfs*7	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.125	567.68	26	chr6	80007996	.	T	TCCCCC	567.68	.	AC=1;AF=0.125;AN=8;BaseQRankSum=-0.626;DP=160;ExcessHet=0;FS=34.037;MLEAC=1;MLEAF=0.125;MQ=60;MQRankSum=0;QD=16.7;ReadPosRankSum=-0.81;SOR=5.669	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:18,16:34:99:0|1:80007990_G_C:575,0,691:80007990	3	0	1	2
chr6	84174900	84174900	T	C	exonic	CEP162	.	nonsynonymous SNV	CEP162:NM_001286206:exon15:c.A1624G:p.R542G,CEP162:NM_014895:exon15:c.A1852G:p.R618G	.	436	1074	11	1	0	13	0.00601573	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.203	0.0121738565628	0.0004	0.000599042	0.0008	0.0001	0.0011	0	0.0002	0.0009	0.0069	0.0008	0.0005692	88	154602	rs140360717	0.0004	0.0004	0.0004	0.0004	0.0132	0.0003	0.0003	0.0108	0.0099	0.0002	0.0006	0.0029	0	0.0002	0.0132	0.0002	0.0011	0.0005	0.0004	0.0004	0.0004	0.0004	0.0009	0.0003	0.0003	0.0005	0.0004	7.218e-05	0	0.0009	0.0020	0	9.452e-05	0.0068	0.0004	0.0033	0.0002	0.13	0.26740	T	0.017	0.61642	D	1.0	0.90584	D	0.964	0.71005	D	0.000001	0.84330	D	0.000000	0.521363	0.31566	N	2.19	0.61577	M	1.97	0.22067	T	-2.33	0.54702	N	0.747	0.74644	-1.0255	0.21919	T	0.082	0.32382	T	10	0.107449144	0.19958	T	0.012174	0.30502	T	0.203	0.48915	.	.	0.326616659874	0.32268	0.33754705872324386	0.33667	0.119698809295	0.13485	0.422764241695	0.28217	T	0.046626	0.27482	T	-0.137308	0.30318	T	-0.0730992	0.65404	T	0.104118660092354	0.12804	T	0.780422	0.41514	T	0.28570518	0.51590	0.3011004	0.56143	0.28570518	0.51590	0.3011004	0.56142	-5.618	0.43889	T	.	.	0.208	0.43626	B	.;.;.	.;.;.	4.324894	0.66219	24.9	0.99832337733852972	0.91370	0.89659	0.50266	D	AEFBI	0.395647	0.47242	N	0.57858598521035	0.71838	5.712337	0.543782914216686	0.70965	5.583586	0.00659323984989058	0.11259	0.615465	0.37627	0	0.588066	0.40923	0	0.658983	0.55881	0	0.655142	0.61905	0	.	.	5.6	5.6	0.84997	2.278000	0.43085	7.882000	0.72565	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.829000	0.39076	0.0:0.0:0.1454:0.8546	12.791	0.56916	589	0.68969	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.012588	0.020202	0.009511	0.040936	0.000000	0.008621	0.003049	0.000000	0.08333	583.83	37	chr6	84174900	.	T	C	583.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.2;DP=252;ExcessHet=0;FS=0.9;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=7.49;ReadPosRankSum=1.02;SOR=0.846	GT:AD:DP:GQ:PL	0/1:52,26:78:99:594,0,1309	5	0	1	0
chr6	87015797	87015797	A	G	exonic	HTR1E	.	nonsynonymous SNV	HTR1E:NM_000865:exon2:c.A463G:p.M155V	.	424	1093	4	1	0	6	0.00273723	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.105	0.0045810794442	.	0.000798722	0.0008	9.623e-05	8.645e-05	0	0	0.0002	0.0011	0.0056	0.0006921	107	154602	rs200173714	0.0004	0.0004	0.0002	0.0006	0.0050	0.0004	0.0004	0.0046	0.0045	0	6.729e-05	0	0	0	0.0019	9.454e-05	0.0004	0.0050	0.0002	0.0002	0.0001	0.0003	0.0048	0.0002	0.0002	0.0033	0.0028	2.412e-05	0	0	0	0	0	0.0034	0.0001	0.0005	0.0048	0.202	0.20230	T	0.268	0.22494	T	0.009	0.15093	B	0.019	0.18783	B	0.000052	0.53742	U	0.070424	0.700584	0.33417	D	0.28	0.10031	N	-0.47	0.70133	T	0.48	0.03041	N	0.205	0.22742	-0.9663	0.37954	T	0.119	0.41648	T	10	0.014768332	0.00310	T	0.004581	0.11315	T	0.105	0.29889	.	.	0.774502914159	0.77242	0.590750607584926	0.59005	0.4856727274	0.47436	0.551840364933	0.46117	T	0.01096	0.09835	T	-0.405017	0.02146	T	-0.35374	0.38778	T	0.030551076709668	0.02075	T	0.889011	0.61998	D	0.22975582	0.45718	0.20875467	0.45191	0.22975582	0.45718	0.20875467	0.45190	-3.521	0.16727	T	.	.	0.086	0.10931	B	.	.	2.286124	0.29238	18.06	0.95782050085847315	0.27807	0.80492	0.40115	D	AEFDBI	0.224091	0.34836	N	-0.234001619813048	0.31746	1.78326	-0.0715122328824879	0.36572	2.130154	0.00204022641655854	0.09104	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	4.26	4.26	0.49832	3.600000	0.53805	6.071000	0.53257	0.540000	0.25189	0.999000	0.42656	1.000000	0.68203	0.969000	0.54022	1.0:0.0:0.0:0.0	13.360	0.60092	809	0.43032	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002014	0.000000	0.000000	0.005848	0.000000	0.000000	0.006098	0.000000	0.08333	2157.83	33	chr6	87015797	.	A	G	2157.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.086;DP=350;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.55;ReadPosRankSum=1.52;SOR=0.67	GT:AD:DP:GQ:PL	0/1:81,91:172:99:2168,0,2073	5	0	1	0
chr6	89675563	89675563	T	C	exonic	MDN1	.	nonsynonymous SNV	MDN1:NM_014611:exon78:c.A12662G:p.N4221S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.020	0.00659718585141	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.052e-06	2.052e-06	1.361e-06	2.751e-06	2.319e-05	5.5e-07	1.5e-07	3.85e-06	1.44e-06	0	0	0	0	0	0	8.993e-07	0	2.319e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.249	0.17183	T	.	.	.	0.001	0.07471	B	0.002	0.06944	B	0.390998	0.13255	N	0.737152	1	0.08975	N	0.175	0.09039	N	3.94	0.03408	T	-2.33	0.51646	N	0.135	0.13198	-0.9129	0.46492	T	0.002	0.00615	T	10	0.07681984	0.12049	T	0.006597	0.17415	T	0.020	0.03691	0.356	0.35734	0.236619781664	0.23270	0.19851706339961175	0.19768	0.12052743132	0.13571	0.298070251942	0.10114	T	0.005897	0.05345	T	-0.41026	0.01979	T	-0.827087	0.01315	T	0.030404167510259	0.02052	T	0.738226	0.35599	T	0.022925146	0.00991	0.03891409	0.03866	0.022925146	0.00991	0.03891409	0.03865	-1.713	0.02263	T	.	.	0.061	0.01092	B	.;.	.;.	0.522976	0.08917	5.698	0.51537924081685249	0.04581	0.11708	0.16810	N	AEFGBI	0.056834	0.10537	N	-1.36224938127224	0.03000	0.133324	-1.39695940027391	0.03284	0.1528932	0.840393185283307	0.24856	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.84	-5.22	0.02592	0.138000	0.15838	0.078000	0.14353	-0.703000	0.04025	0.015000	0.19116	0.006000	0.19429	0.012000	0.09680	0.116:0.464:0.2157:0.2043	4.493	0.11234	798	0.45050	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	1291.83	34	chr6	89675563	.	T	C	1291.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.48;DP=265;ExcessHet=0;FS=0.846;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.51;ReadPosRankSum=-0.062;SOR=0.552	GT:AD:DP:GQ:PL	0/1:41,48:89:99:1302,0,1058	5	0	1	0
chr6	106519303	106519303	C	G	exonic	CRYBG1	.	nonsynonymous SNV	CRYBG1:NM_001624:exon2:c.C871G:p.R291G,CRYBG1:NM_001371242:exon4:c.C2095G:p.R699G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.278	0.0287369737943	.	0.000399361	0.0004	0	0	0	0	3.002e-05	0	0.0026	0.0003105	48	154602	rs558701608	0.0002	0.0002	0.0001	0.0002	0.0024	0.0001	0.0001	0.0021	0.0020	0	0	0	0	0	0.0007	1.799e-06	0.0004	0.0024	5.255e-05	5.25e-05	2.57e-05	8.061e-05	0.0012	2.556e-05	1.83e-05	0.0005	0.0004	0	0	0	0	0	0	0	0	0.0009	0.0012	0.006	0.61437	D	0.093	0.39799	T	0.983	0.60381	D	0.76	0.56425	P	0.060695	0.22229	N	0.232228	1	0.08975	N	.	.	.	-0.73	0.73100	T	-1.86	0.43524	N	0.778	0.77507	-0.5542	0.66626	T	0.291	0.66259	T	10	0.019755095	0.00445	T	0.028737	0.51367	D	0.278	0.59497	0.248	0.18447	0.821884243264	0.82020	0.2077915796899606	0.20695	0.515464313229	0.49457	0.356641471386	0.18895	T	0.050341	0.28566	T	-0.199312	0.20904	T	-0.0643124	0.66029	T	0.110824388270236	0.13508	T	0.767123	0.39533	T	0.13626035	0.31593	0.1022942	0.24512	0.13626035	0.31593	0.1022942	0.24511	-3.361	0.14537	T	.	.	0.274	0.50754	B	.;.	.;.	2.585702	0.33535	19.37	0.99696412280448465	0.80316	0.64504	0.32428	D	AEFDGBCI	0.264595	0.38191	N	0.34693955430204	0.58579	4.03088	0.278205534858612	0.54271	3.592429	0.99999999904061	0.74766	0.651	0.46895	0	0.52208	0.09955	0	0.658983	0.55881	0	0.683762	0.67416	0	.	.	5.73	5.73	0.89730	2.676000	0.46550	4.085000	0.41766	0.599000	0.40250	0.974000	0.34632	0.999000	0.35428	0.676000	0.33425	0.0:0.8515:0.0:0.1485	10.438	0.43634	865	0.32612	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1053.83	34	chr6	106519303	.	C	G	1053.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.49;DP=266;ExcessHet=0;FS=1.772;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.11;ReadPosRankSum=0.645;SOR=0.993	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:48,39:87:99:0|1:106519303_C_G:1064,0,1868:106519303	5	0	1	0
chr6	138868138	138868138	A	G	exonic	ECT2L	.	nonsynonymous SNV	ECT2L:NM_001195037:exon12:c.A1510G:p.I504V,ECT2L:NM_001077706:exon13:c.A1510G:p.I504V	.	436	1083	3	0	0	3	0.00138313	.	.	.	137727	not_specified	MedGen:CN169374	no_classification_provided	not_provided	.	.	.	.	.	.	.	.	0.049	.	.	0.0071885	0.0034	0.0001	0.0002	0.0001	0	1.499e-05	0.0022	0.0245	0.0030271	468	154602	rs201270230	0.0014	0.0014	0.0008	0.0020	0.0221	0.0014	0.0013	0.0213	0.0210	0	2.239e-05	0	2.52e-05	0	0.0021	3.329e-05	0.0017	0.0221	0.0009	0.0009	0.0005	0.0013	0.0263	0.0007	0.0007	0.0226	0.0212	0	0	6.532e-05	0	0.0002	0	0	2.94e-05	0.0005	0.0263	0.518	0.07307	T	0.485	0.11725	T	0.001	0.07471	B	0.001	0.04355	B	0.450261	0.12516	U	0.594563	1	0.08975	N	1.485	0.37223	L	0.2	0.60111	T	-0.26	0.11185	N	0.152	0.15609	-1.0225	0.22899	T	0.102	0.37618	T	10	0.0031599104	0.00053	T	.	.	.	0.049	0.13647	0.286	0.24440	0.199424873507	0.19547	0.11954962768218094	0.11881	0.073059882837	0.08188	0.381543070078	0.22476	T	0.003241	0.02647	T	-0.636404	0.00087	T	-0.668673	0.07693	T	0.0125056030265524	0.00207	T	0.466353	0.13696	T	0.025491936	0.01493	0.026908303	0.00808	0.025491936	0.01493	0.026908303	0.00808	-3.678	0.18994	T	.	.	0.090	0.12655	B	.;.;.	.;.;.	0.378351	0.07505	4.148	0.24379084119541247	0.01075	0.02747	0.07428	N	AEFBI	0.040144	0.05930	N	-0.994580911778222	0.08719	0.4098915	-0.959224902642287	0.10710	0.5411385	0.483726189192506	0.20807	0.497415	0.19182	0	0.491513	0.07743	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.77	3.41	0.38145	0.283000	0.18605	0.732000	0.21094	-0.067000	0.16409	0.038000	0.20882	0.001000	0.17328	0.005000	0.06747	0.6851:0.0:0.3149:0.0	4.868	0.12978	902	0.24074	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001511	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.007576	0.08333	1055.83	40	chr6	138868138	.	A	G	1055.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.515;DP=293;ExcessHet=0;FS=1.633;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.66;ReadPosRankSum=-2.063;SOR=0.924	GT:AD:DP:GQ:PL	0/1:51,48:99:99:1066,0,1112	5	0	1	0
chr6	139135442	139135442	G	A	exonic	HECA	.	nonsynonymous SNV	HECA:NM_016217:exon1:c.G46A:p.A16T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.079	0.227013455088	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.641e-06	4.652e-05	3.238e-06	0	2.057e-06	2.7e-07	1e-07	3.4e-07	1.3e-07	0	0	0	0	0	0	2.057e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.507	0.07570	T	0.421	0.14075	T	0.013	0.16609	B	0.0	0.01387	B	0.034033	0.24822	U	0.148584	0.948603	0.26564	N	-0.345	0.03330	N	.	.	.	0.11	0.05706	N	0.141	0.14054	-0.9853	0.33760	T	0.020	0.08313	T	9	0.04212889	0.02932	T	0.227013	0.88071	D	0.079	0.23065	0.082	0.00727	0.215109475489	0.21095	0.08861890653414378	0.08794	0.742544029749	0.63343	0.923138439655	0.98553	D	0.060637	0.31441	T	-0.0618885	0.42612	T	-0.326675	0.41839	T	0.429150760173798	0.30029	T	0.537046	0.18049	T	0.10066679	0.23771	0.09718788	0.23124	0.10066679	0.23771	0.09718788	0.23123	-4.503	0.30928	T	.	.	0.075	0.05360	B	.	.	2.445462	0.31484	18.75	0.98408789919814099	0.41148	0.21163	0.21304	N	AEFDBHCIJ	0.062203	0.11943	N	-0.549607583882103	0.20496	1.080879	-0.43080854072497	0.24098	1.317752	0.999989013333796	0.51787	0.242642	0.04205	2	0.56911	0.20461	1	0.391439	0.06340	0	0.249971	0.05119	0	.	.	1.98	1.98	0.25351	3.872000	0.55798	10.052000	0.83193	0.462000	0.21616	1.000000	0.71638	1.000000	0.68203	0.988000	0.63387	0.0:0.0:1.0:0.0	8.915	0.34738	825	0.40060	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	31.85	21	chr6	139135442	.	G	A	31.85	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.189;DP=62;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=5.31;ReadPosRankSum=-1.15;SOR=0.693	GT:AD:DP:GQ:PL	0/1:3,3:6:42:42,0,58	5	0	1	0
chr6	150389354	150389354	G	A	exonic	IYD	.	startloss	IYD:NM_001164694:exon2:c.G181A:p.A61T,IYD:NM_001164695:exon2:c.G181A:p.A61T,IYD:NM_001318495:exon2:c.G3A:p.M1?,IYD:NM_203395:exon2:c.G181A:p.A61T	Thyroid dyshormonogenesis 4, Autosomal recessive	3	1479	38	2	0	42	0.014	.	.	.	721796	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.136	.	0.0012	0.00159744	0.0029	0.0002	0.0005	0.0002	0.0035	0.0016	0.0078	0.0122	0.0025161	389	154602	rs144193430	0.0021	0.0021	0.0017	0.0024	0.0127	0.0020	0.0020	0.0120	0.0118	0.0002	0.0007	0.0049	5.042e-05	0.0034	0.0085	0.0012	0.0025	0.0127	0.0018	0.0018	0.0014	0.0021	0.0158	0.0016	0.0015	0.0129	0.0119	0.0002	0	0.0014	0.0046	0.0004	0.0020	0.0137	0.0016	0.0028	0.0158	0.579	0.06049	T	0.584	0.08565	T	0.001	0.09854	B	0.001	0.06944	B	0.721854	0.09928	N	0.886530	0.997163	0.27117	N	1.59	0.40313	L	-2.13	0.86349	D	-0.02	0.07299	N	0.186	0.20395	-0.7583	0.57498	T	0.327	0.69538	T	10	0.0052779317	0.00139	T	.	.	.	0.136	0.36778	.	.	0.884877235316	0.88374	0.23092399812901218	0.23007	0.0592055756265	0.06579	0.238015964627	0.02614	T	0.022231	0.17174	T	-0.480227	0.00737	T	-0.451558	0.27525	T	0.0129155964144352	0.00222	T	0.520648	0.43505	T	0.040515486	0.05797	0.053523004	0.09033	0.040266983	0.05716	0.05825627	0.10733	-3.433	0.17125	T	.	.	0.070	0.05668	B	.;.;.;.;.;.	.;.;.;.;.;.	2.071575	0.26345	17.08	0.97923179626212065	0.36900	0.90815	0.52313	D	AEFBI	0.415524	0.48435	N	-0.237494783975278	0.31607	1.773902	-0.0906866889505324	0.35774	2.073705	0.00127860248535379	0.08400	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	5.4	4.53	0.55009	2.713000	0.46862	2.504000	0.33042	-0.106000	0.15538	0.997000	0.40164	0.535000	0.25384	0.942000	0.48361	0.1459:0.0:0.8541:0.0	10.780	0.45569	917	0.20147	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.005035	0.000000	0.004076	0.000000	0.000000	0.000000	0.003049	0.015152	0.1667	750.04	36	chr6	150389354	.	G	A	750.04	.	AC=2;AF=0.167;AN=12;DP=175;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;QD=26.79;SOR=0.997	GT:AD:DP:GQ:PL	1/1:0,28:28:83:770,83,0	5	1	0	0
chr6	151351264	151351264	G	T	exonic	AKAP12	.	nonsynonymous SNV	AKAP12:NM_001370346:exon2:c.G2558T:p.R853I,AKAP12:NM_144497:exon2:c.G2579T:p.R860I,AKAP12:NM_005100:exon4:c.G2873T:p.R958I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	0.0099620581271	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.016	0.52492	D	0.106	0.37872	T	0.196	0.32457	B	0.036	0.28749	B	0.377456	0.04399	N	1.454200	1	0.08975	N	1.15	0.29295	L	3.16	0.07711	T	-3.09	0.63438	D	0.124	0.14054	-0.9263	0.44673	T	0.005	0.01578	T	10	0.076340884	0.11912	T	0.009962	0.25923	T	0.014	0.01968	0.207	0.12356	0.28492961333	0.28089	0.13486757621778703	0.13410	0.46476200693	0.45935	0.174578428268	0.00054	T	0.272215	0.64459	T	-0.290656	0.09570	T	-0.655283	0.08587	T	0.199819579720497	0.20406	T	0.835216	0.50504	T	0.09325174	0.21896	0.08079742	0.18306	0.09325174	0.21896	0.08079742	0.18306	-3.513	0.16614	T	.	.	0.137	0.32226	B	.;.;.;.	.;.;.;.	1.219109	0.16129	12.34	0.9562673292356928	0.27403	0.09480	0.15226	N	AEFDBCI	0.048784	0.08360	N	-0.913624971222943	0.10523	0.5032529	-0.963857872835306	0.10603	0.535073	0.998375421432123	0.36850	0.706298	0.61202	0	0.573888	0.26702	0	0.709663	0.75317	0	0.711	0.71501	0	.	.	5.06	0.21	0.14507	1.358000	0.33706	-0.059000	0.12448	0.676000	0.76740	0.818000	0.29961	0.000000	0.08366	0.184000	0.21420	0.52:0.1565:0.19:0.1335	1.524	0.02369	928	0.17405	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1667	2688.04	75	chr6	151351264	.	G	T	2688.04	.	AC=2;AF=0.167;AN=12;BaseQRankSum=1.87;DP=415;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=29.87;ReadPosRankSum=0.655;SOR=0.232	GT:AD:DP:GQ:PL	1/1:1,89:90:99:2708,259,0	5	1	0	0
chr6	152331115	152331115	C	G	exonic	SYNE1	.	nonsynonymous SNV	SYNE1:NM_033071:exon77:c.G13357C:p.V4453L,SYNE1:NM_182961:exon78:c.G13570C:p.V4524L	Emery-Dreifuss muscular dystrophy 4, autosomal dominant, Autosomal dominant;Spinocerebellar ataxia, autosomal recessive 8, Autosomal recessive	.	.	.	.	.	.	.	.	.	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	0.031	0.00754825800838	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	0.034	0.53072	D	0.003	0.11197	B	0.004	0.10090	B	0.325020	0.14208	N	0.660669	1	0.81001	D	0.69	0.16971	N	1.38	0.34050	T	-0.86	0.23372	N	0.117	0.11340	-0.9824	0.34445	T	0.014	0.05513	T	10	0.042183667	0.02943	T	0.007548	0.20033	T	0.031	0.07369	0.323	0.30387	0.170165803431	0.16609	0.20548542717459714	0.20465	0.130822632684	0.14758	0.293257117271	0.09399	T	0.127862	0.45515	T	-0.311759	0.07593	T	-0.685596	0.06647	T	0.025374189688588	0.01322	T	0.79652	0.44001	T	0.047435828	0.08107	0.051205635	0.08193	0.047435828	0.08107	0.051205635	0.08192	-0.288	0.00468	T	.	.	0.131	0.28145	B	.;.	.;.	0.577523	0.09458	6.239	0.69415960505877994	0.08965	0.95287	0.64137	D	AEFDBI	0.517551	0.54362	D	-0.98190325063367	0.08989	0.4236828	-0.848130851139563	0.13332	0.6910612	0.0729640935166664	0.15619	0.554377	0.28877	0	0.573888	0.26702	0	0.573888	0.23631	0	0.567892	0.33627	0	.	.	6.03	0.886	0.18329	1.409000	0.34288	-0.077000	0.12225	-0.313000	0.06017	1.000000	0.71638	0.000000	0.08366	0.599000	0.31363	0.0:0.5304:0.1169:0.3527	6.318	0.20409	847	0.35998	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1	96.87	46	chr6	152331115	.	C	G	96.87	.	AC=1;AF=0.1;AN=10;BaseQRankSum=-3.751;DP=656;ExcessHet=0;FS=331.703;MLEAC=1;MLEAF=0.1;MQ=60;MQRankSum=0;QD=0.75;ReadPosRankSum=2.49;SOR=8.739	GT:AD:DP:GQ:PL	0/1:94,36:130:99:106,0,1959	4	0	1	1
chr6	167004287	167004287	G	T	exonic	CEP43	.	nonsynonymous SNV	CEP43:NM_001278690:exon5:c.G324T:p.E108D,CEP43:NM_007045:exon5:c.G324T:p.E108D,CEP43:NM_194429:exon5:c.G324T:p.E108D	.	437	1065	20	0	0	20	0.00930233	.	.	.	3296927	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.088	0.00482829371378	0.0008	0.000199681	0.0012	0	0.0003	0	0.0012	0.0015	0.0022	0.0021	0.0011449	177	154602	rs150980464	0.0011	0.0011	0.0010	0.0012	0.0061	0.0011	0.0010	0.0045	0.0040	0.0001	0.0007	0.0003	0	0.0012	0.0061	0.0011	0.0011	0.0020	0.0010	0.0010	0.0009	0.0011	0.0021	0.0008	0.0008	0.0012	0.0010	0.0003	0	0.0017	0.0003	0	0.0012	0.0068	0.0012	0.0014	0.0021	0.219	0.19500	T	0.475	0.17531	T	0.117	0.28404	B	0.145	0.33871	B	0.000007	0.62929	D	0.106388	0.99169	0.41451	D	0.82	0.20857	L	1.44	0.32722	T	-0.42	0.14193	N	0.378	0.48504	-1.0231	0.22704	T	0.015	0.06042	T	10	0.017407238	0.00371	T	0.004828	0.12098	T	0.088	0.25558	0.447	0.50629	0.412434490787	0.40856	0.1967041617966551	0.19587	0.0856515615091	0.09678	0.744154751301	0.73584	T	0.046112	0.27325	T	-0.446358	0.01186	T	-0.420723	0.30994	T	0.0222868833948933	0.00941	T	0.755524	0.41060	T	0.18760195	0.40221	0.10838155	0.26108	0.18760195	0.40221	0.10838155	0.26107	-5.456	0.42370	T	.	.	0.175	0.39168	B	.;.;.	.;.;.	2.502051	0.32303	19.00	0.99222417532008056	0.55932	0.80276	0.39957	D	AEFBI	0.206456	0.33271	N	-0.59114217793133	0.19212	1.003751	-0.413885063937899	0.24589	1.347357	0.999934020635687	0.46732	0.732398	0.92422	0	0.581341	0.33841	0	0.743671	0.96076	0	0.727631	0.95156	0	.	.	5.34	3.58	0.40133	2.117000	0.41563	3.672000	0.39440	-0.795000	0.03215	1.000000	0.71638	1.000000	0.68203	0.935000	0.47363	0.2715:0.0:0.7285:0.0	7.668	0.27611	994	0.00715	FGFR1 oncogene partner (FOP), N-terminal dimerisation domain;FGFR1 oncogene partner (FOP), N-terminal dimerisation domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.005040	0.000000	0.005435	0.002924	0.000000	0.008621	0.009146	0.007576	0.08333	1100.83	35	chr6	167004287	.	G	T	1100.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.443;DP=243;ExcessHet=0;FS=0.997;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=15.73;ReadPosRankSum=-0.751;SOR=0.51	GT:AD:DP:GQ:PL	0/1:23,47:70:99:1111,0,534	5	0	1	0
chr6	167340931	167340931	A	C	exonic	TTLL2	.	nonsynonymous SNV	TTLL2:NM_031949:exon3:c.A1031C:p.K344T	.	432	1069	19	2	0	23	0.0106432	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.072	0.00154577874248	0.0005	0.000998403	0.0013	9.61e-05	0.0002	0	0	0.0004	0.0022	0.0078	0.0010543	163	154602	rs146295287	0.0007	0.0007	0.0005	0.0010	0.0082	0.0007	0.0007	0.0077	0.0075	0	0.0001	0	2.519e-05	0	0.0076	0.0002	0.0010	0.0082	0.0004	0.0004	0.0003	0.0005	0.0060	0.0003	0.0003	0.0043	0.0037	4.817e-05	0	0.0002	0	0	0	0	0.0004	0	0.0060	0.007	0.59928	D	0.009	0.66756	D	1.0	0.90584	D	0.985	0.76457	D	0.002034	0.37411	N	0.159801	0.987245	0.24536	N	2.43	0.70455	M	3.38	0.05778	T	-4.11	0.74980	D	0.397	0.43803	-1.1011	0.03961	T	0.025	0.10643	T	10	0.010228634	0.00228	T	0.001546	0.02420	T	0.072	0.21020	.	.	0.262662153117	0.25859	0.6282461185719669	0.62757	0.565748960011	0.52901	0.371026456356	0.20979	T	0.01456	0.12376	T	-0.475804	0.00783	T	-0.45153	0.27528	T	0.0616771880338444	0.07429	T	0.714629	0.32694	T	0.3679429	0.58432	0.31032136	0.57043	0.3679429	0.58432	0.31032136	0.57043	-6.996	0.54005	T	.	.	0.220	0.45074	B	.;.	.;.	2.550494	0.33007	19.21	0.99630248474974281	0.76020	0.32261	0.24541	N	AEFBHCI	0.145505	0.26872	N	0.044515280591658	0.43891	2.673259	-0.167817901167994	0.32728	1.865	0.947404356873519	0.27751	0.487112	0.14033	0	0.59043	0.45803	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	3.75	1.37	0.21200	0.779000	0.26407	1.966000	0.29963	0.587000	0.30956	0.923000	0.32050	0.003000	0.18671	0.692000	0.33898	0.8004:0.0:0.1996:0.0	7.627	0.27383	988	0.01987	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.008056	0.000000	0.008152	0.008772	0.000000	0.017241	0.012195	0.007576	0.08333	2437.83	154	chr6	167340931	.	A	C	2437.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.43;DP=639;ExcessHet=0;FS=6.095;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.9;ReadPosRankSum=1.62;SOR=0.535	GT:AD:DP:GQ:PL	0/1:98,91:189:99:2448,0,2579	5	0	1	0
chr6	170561964	170561964	G	0	exonic	TBP	.	.	.	Spinocerebellar ataxia 17, Autosomal dominant	68	560	433	93	368	987	0.355952	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	2681.43	64	chr6	170561964	.	G	*	2681.43	.	AC=5;AF=0.5;AN=10;BaseQRankSum=-2.577;DP=819;ExcessHet=0.1336;FS=3.859;MLEAC=5;MLEAF=0.5;MQ=60;MQRankSum=0;QD=6.77;ReadPosRankSum=1.92;SOR=0.91	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,75:75:99:1|1:170561949_GCAA_G:3278,229,0:170561949	1	1	3	1
chr7	290725	290725	C	G	exonic	FOXL3	.	nonsynonymous SNV	FOXL3:NM_001374838:exon2:c.C180G:p.D60E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1401769274	1.508e-05	0.0005	1.932e-05	1.072e-05	3.51e-05	9.85e-06	8.01e-06	1.156e-05	9.32e-06	3.51e-05	0	0	0	0	0	1.808e-05	0	0	6.573e-06	6.567e-06	0	1.345e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.29690653	0.47254	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.909409	0.67928	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.248	0.48230	B	.	.	2.606792	0.33848	19.46	0.92665126009978027	0.22145	0.72915	0.35675	D	AEFDBI	.	.	.	.	.	.	.	.	.	0.999996798729429	0.74766	0.11394	0.02926	0	0.063388	0.01293	0	0.125351	0.03401	0	0.109499	0.03221	0	0.842344	0.50902	4.4	4.4	0.52402	1.910000	0.39557	1.324000	0.25623	0.445000	0.21165	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:1.0:0.0:0.0	16.969	0.86166	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3	131.58	14	chr7	290725	.	C	G	131.58	.	AC=3;AF=0.3;AN=10;BaseQRankSum=-0.359;DP=125;ExcessHet=1.383;FS=83.886;MLEAC=3;MLEAF=0.3;MQ=60;MQRankSum=0;QD=2.39;ReadPosRankSum=-0.568;SOR=6.665	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:8,7:15:27:.:.:27,0,86:.	2	0	3	1
chr7	2646946	2646946	C	T	exonic	TTYH3	.	nonsynonymous SNV	TTYH3:NM_025250:exon2:c.C217T:p.R73C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.236	0.0764809837884	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1324679621	3.453e-06	1.915e-05	2.749e-06	4.164e-06	0.0002	1.01e-06	7.4e-07	1.594e-05	9.37e-06	0	0	0	0	0	0.0002	0	0	4.687e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.022	0.63226	D	0.002	0.83351	D	1.0	0.90584	D	0.959	0.70163	D	0.000131	0.49741	D	0.171092	0.999983	0.54805	D	2.64	0.77224	M	2.55	0.13795	T	-2.43	0.63323	N	0.634	0.65930	-1.0716	0.09065	T	0.092	0.35174	T	10	0.4432236	0.58234	T	0.076481	0.72541	D	0.236	0.53931	0.502	0.59460	0.143184338766	0.13958	0.6211951010481327	0.62052	0.388535252049	0.40113	0.751979410648	0.74738	T	0.278326	0.65098	T	-0.0848433	0.38924	T	-0.359648	0.38094	T	0.84624719619751	0.49845	D	0.972403	0.89999	D	0.103265755	0.24407	0.095759876	0.22725	0.103265755	0.24407	0.095759876	0.22724	-9.169	0.68778	D	.	.	0.139	0.48551	B	.;.;.	.;.;.	5.118959	0.85616	28.7	0.99905579275119227	0.97651	0.96808	0.71050	D	ALL	0.661771	0.63188	D	0.476204980437262	0.65704	4.856049	0.416011669079748	0.62563	4.473676	0.99999999999545	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.648423	0.49468	0	0.711	0.71501	0	.	.	4.96	4.05	0.46415	1.838000	0.38851	4.818000	0.45095	0.524000	0.24156	0.985000	0.35982	1.000000	0.68203	0.997000	0.79791	0.1558:0.8442:0.0:0.0	14.175	0.65071	940	0.13648	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	834.83	36	chr7	2646946	.	C	T	834.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.972;DP=258;ExcessHet=0;FS=1.91;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.28;ReadPosRankSum=-0.833;SOR=0.945	GT:AD:DP:GQ:PL	0/1:38,36:74:99:845,0,838	5	0	1	0
chr7	12380643	12380643	G	C	exonic	VWDE	.	nonsynonymous SNV	VWDE:NM_001135924:exon5:c.C632G:p.S211C,VWDE:NM_001346972:exon5:c.C632G:p.S211C,VWDE:NM_001346973:exon5:c.C167G:p.S56C	.	439	1041	40	2	0	44	0.0206961	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.317	.	0.0002	0.00299521	0.0071	0.0004	0.0024	0	0.0012	0.0005	0	0.0191	0.0012484	193	154602	rs201430222	0.0014	0.0013	0.0008	0.0019	0.0163	0.0013	0.0013	0.0155	0.0152	6.33e-05	0.0004	0.0004	2.798e-05	0.0002	0.0102	0.0004	0.0017	0.0163	0.0009	0.0009	0.0007	0.0012	0.0147	0.0008	0.0008	0.0120	0.0110	4.812e-05	0	0.0007	0.0006	0	0.0003	0.0136	0.0007	0.0019	0.0147	0.019	0.50132	D	0.015	0.61642	D	0.761	0.43566	P	0.338	0.42306	B	.	.	.	.	0.965048	0.25955	N	1.495	0.37439	L	-1.67	0.82806	D	-2.2	0.49519	N	0.162	0.17002	-0.4008	0.72001	T	0.416	0.76279	T	9	0.008293569	0.00188	T	.	.	.	0.317	0.63904	.	.	0.343334270461	0.33943	0.20029899394606046	0.19946	.	.	0.376162022352	0.21712	T	0.039527	0.25219	T	-0.420008	0.01710	T	-0.361152	0.37918	T	0.024809887274748	0.01248	T	0.578142	0.20837	T	0.16607872	0.36921	0.15976596	0.37245	0.16607872	0.36920	0.15976596	0.37244	-11.404	0.81827	D	.	.	0.167	0.36712	B	.	.	3.624016	0.51305	23.1	0.98969845649481181	0.49501	0.95695	0.65763	D	AEFBI	0.631091	0.61219	D	0.196351805118652	0.51024	3.287046	0.249341905279831	0.52612	3.434912	0.999978700190465	0.50053	0.615465	0.37627	0	0.573888	0.26702	0	0.658983	0.55881	0	0.613276	0.41899	0	.	.	4.98	4.98	0.65679	2.332000	0.43561	5.528000	0.48839	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.775000	0.36711	0.0:0.0:0.843:0.157	13.417	0.60423	837	0.37933	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003589	0.000000	0.000000	0.013043	0.000000	0.000000	0.005618	0.012195	0.08333	900.83	41	chr7	12380643	.	G	C	900.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.03;DP=269;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.34;ReadPosRankSum=0.022;SOR=0.651	GT:AD:DP:GQ:PL	0/1:37,36:73:99:911,0,964	5	0	1	0
chr7	27095698	27095706	TGGTGGTGG	-	exonic	HOXA1	.	nonframeshift deletion	HOXA1:NM_005522:exon1:c.207_215del:p.H70_H72del,HOXA1:NM_153620:exon1:c.207_215del:p.H70_H72del	Athabaskan brainstem dysgenesis syndrome;Bosley-Salih-Alorainy syndrome	0	195	5	0	26	31	0.0126582	.	.	.	579318	Inborn_genetic_diseases|not_provided	MeSH:D030342,MedGen:C0950123|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	.	.	.	.	0.0046	0.0008	0.0014	0	0	0.0026	0.0059	0.0253	0.0005763	15	26028	rs747464910	0.0035	0.0025	0.0029	0.0043	0.0485	0.0034	0.0034	0.0463	0.0454	0.0009	0.0052	0.0268	0	9.787e-05	0.0200	0.0014	0.0063	0.0485	0.0018	0.0018	0.0014	0.0022	0.0134	0.0016	0.0016	0.0106	0.0096	0.0004	0	0.0035	0.0180	0	0	0.0224	0.0010	0.0046	0.0134	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	1762.66	142	chr7	27095697	.	ATGGTGGTGG	A	1762.66	.	AC=1;AF=0.1;AN=10;BaseQRankSum=-0.095;DP=403;ExcessHet=0;FS=0.744;MLEAC=1;MLEAF=0.1;MQ=60;MQRankSum=0;QD=17.28;ReadPosRankSum=0.616;SOR=0.811	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:55,47:102:99:1|0:27095695_C_T:1772,0,2041:27095695	4	0	1	1
chr7	27095700	27095700	G	0	exonic	HOXA1	.	.	.	Athabaskan brainstem dysgenesis syndrome;Bosley-Salih-Alorainy syndrome	10	1349	116	9	38	172	0.0473164	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	2188.04	121	chr7	27095700	.	G	*	2188.04	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.45;DP=408;ExcessHet=0.4139;FS=1.063;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=9.81;ReadPosRankSum=-0.436;SOR=0.777	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:55,47:102:99:1|0:27095695_C_T:1772,0,2041:27095695	5	0	1	0
chr7	27156238	27156238	T	C	exonic	HOXA7	.	nonsynonymous SNV	HOXA7:NM_006896:exon1:c.A308G:p.K103R	.	415	1095	12	0	0	12	0.00544959	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.361	.	0.0056	0.0141773	0.0102	0.0323	0.0193	0	0	0.0040	0.0173	0.0204	0.0060154	930	154602	rs35510017	0.0035	0.0035	0.0032	0.0039	0.0200	0.0034	0.0034	0.0188	0.0183	0.0200	0.0096	0.0050	7.596e-05	0	0.0195	0.0018	0.0066	0.0168	0.0087	0.0087	0.0080	0.0094	0.0200	0.0083	0.0081	0.0189	0.0184	0.0200	0	0.0122	0.0046	0	9.406e-05	0.0578	0.0021	0.0175	0.0184	0.191	0.21066	T	0.421	0.14075	T	0.893	0.49136	P	0.402	0.44547	B	0.000058	0.53742	D	0.123621	0.868877	0.35525	D	1.59	0.40313	L	-2.75	0.90792	D	-0.79	0.21860	N	0.368	0.40963	0.207	0.86025	D	0.426	0.76969	T	10	0.0062873065	0.00142	T	.	.	.	0.361	0.68141	.	.	0.870290592605	0.86902	0.4730644349732166	0.47225	1.07468009698	0.76925	0.681364357471	0.64464	T	0.067694	0.33267	T	-0.394623	0.02510	T	-0.32403	0.42131	T	0.0216822671136913	0.00873	T	0.571443	0.20372	T	0.16014619	0.35936	0.25390467	0.51046	0.16014619	0.35936	0.25390467	0.51045	-4.448	0.30203	T	.	.	0.081	0.08224	B	.	.	3.368921	0.46543	22.3	0.98907069079365495	0.48290	0.93334	0.57939	D	ALL	0.699897	0.65709	D	0.38223975594174	0.60459	4.235092	0.433716534570468	0.63678	4.606424	0.999999999999995	0.74766	0.59774	0.34471	0	0.596491	0.49125	0	0.606814	0.37721	0	0.581474	0.35302	0	.	.	5.59	5.59	0.84677	5.803000	0.68791	6.137000	0.53999	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:0.0:1.0	15.771	0.77938	203	0.92088	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.033941	0.097938	0.036685	0.038012	0.000000	0.017241	0.003125	0.011450	0.08333	873.83	33	chr7	27156238	.	T	C	873.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.27;DP=215;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.81;ReadPosRankSum=-1.119;SOR=0.598	GT:AD:DP:GQ:PL	0/1:24,35:59:99:884,0,499	5	0	1	0
chr7	30446188	30446188	C	G	exonic	NOD1	.	nonsynonymous SNV	NOD1:NM_001354849:exon9:c.G2406C:p.K802N,NOD1:NM_006092:exon9:c.G2406C:p.K802N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.177	0.0689500649545	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0007	0.0043	0.0008	0.0007	0.0008	0.0007	0.0007	0.0008	0.0008	0.0007	4.479e-05	0.0003	2.536e-05	1.874e-05	0.0004	0.0008	0.0007	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.034	0.44029	D	0.018	0.59732	D	0.942	0.52977	P	0.697	0.54061	P	0.000032	0.55875	D	0.190889	0.966891	0.38559	D	1.64	0.41913	L	-0.24	0.66834	T	-2.97	0.61865	D	0.635	0.64818	-0.5186	0.67966	T	0.323	0.69177	T	10	0.7050225	0.72683	D	0.06895	0.70595	D	0.177	0.44549	0.387	0.40788	0.894045435077	0.89299	0.4355661146951452	0.43473	0.617561874547	0.56189	0.462699949741	0.33681	T	0.14665	0.48435	T	-0.138881	0.30068	T	-0.43727	0.29114	T	0.985395491123199	0.76401	D	0.922508	0.71813	D	0.33777446	0.56102	0.20677517	0.44907	0.33777446	0.56102	0.20677517	0.44906	-7.6	0.58311	D	.	.	0.536	0.66190	A	.	.	4.080191	0.60688	24.2	0.99860283607025768	0.93911	0.38904	0.26093	N	AEFGBHCI	0.291813	0.40285	N	0.326417966070398	0.57508	3.918382	0.301145757670786	0.55606	3.724	0.999999999809702	0.74766	0.615465	0.37627	0	0.71359	0.82159	0	0.658983	0.55881	0	0.635551	0.53088	0	.	.	5.38	4.49	0.54177	1.026000	0.29708	1.366000	0.25918	0.599000	0.40250	0.992000	0.37556	0.999000	0.35428	0.998000	0.85391	0.0:0.7718:0.1502:0.078	8.934	0.34846	840	0.37365	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2	203.05	47	chr7	30446188	.	C	G	203.05	.	AC=2;AF=0.2;AN=10;BaseQRankSum=-2.613;DP=446;ExcessHet=0.4139;FS=205.097;MLEAC=2;MLEAF=0.2;MQ=60;MQRankSum=0;QD=1.26;ReadPosRankSum=1.06;SOR=7.475	GT:AD:DP:GQ:PL	0/1:61,21:82:99:149,0,1185	3	0	2	1
chr7	36618320	36618320	G	A	exonic	AOAH	.	nonsynonymous SNV	AOAH:NM_001177507:exon9:c.C632T:p.P211L,AOAH:NM_001177506:exon10:c.C728T:p.P243L,AOAH:NM_001637:exon10:c.C728T:p.P243L	.	427	1065	28	2	0	32	0.0148011	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.376	.	0.0022	0.00878594	0.0093	0.0004	0.0258	0.0334	0.0109	0.0037	0.0143	0.0121	0.0084281	1303	154602	rs80187893	0.0046	0.0048	0.0044	0.0049	0.0327	0.0045	0.0045	0.0313	0.0307	0.0004	0.0235	0.0091	0.0327	0.0090	0.0092	0.0020	0.0057	0.0130	0.0051	0.0051	0.0041	0.0062	0.0278	0.0048	0.0047	0.0241	0.0227	0.0008	0	0.0131	0.0087	0.0278	0.0121	0.0034	0.0025	0.0066	0.0122	.	.	.	0.014	0.66756	D	1.0	0.90584	D	0.997	0.86255	D	0.000001	0.84330	D	0.000000	0.999993	0.58761	D	.	.	.	.	.	.	.	.	.	0.813	0.81957	0.144	0.84958	D	0.472	0.79721	T	9	0.010548472	0.00234	T	.	.	.	.	.	.	.	.	.	0.7680294996490177	0.76751	.	.	0.489249646664	0.37333	T	0.496599	0.81883	T	0.040285	0.57085	T	0.308775	0.88597	D	0.0208232510523532	0.00782	T	0.954605	0.82717	D	0.7881408	0.83157	0.39030266	0.63829	0.7881408	0.83159	0.39030266	0.63829	-11.391	0.81759	D	.	.	0.274	0.52825	B	.;.;.	.;.;.	4.890986	0.80306	27.3	0.99870412119360086	0.94815	0.93504	0.58397	D	AEFBI	0.680081	0.64390	D	0.703733816015559	0.79876	7.171534	0.698820057804056	0.82288	7.730277	0.999991816901572	0.74766	0.553676	0.25195	0	0.588015	0.36545	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	5.23	5.23	0.72570	5.619000	0.67408	11.398000	0.92662	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:1.0:0.0	15.824	0.78459	903	0.23940	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.006546	0.005051	0.005435	0.002924	0.050000	0.008621	0.018293	0.003788	0.08333	2405.83	35	chr7	36618320	.	G	A	2405.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.246;DP=308;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=17.95;ReadPosRankSum=0.84;SOR=0.636	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:67,67:134:99:0|1:36618320_G_A:2416,0,2462:36618320	5	0	1	0
chr7	42023572	42023572	C	G	exonic	GLI3	.	nonsynonymous SNV	GLI3:NM_000168:exon10:c.G1393C:p.G465R	Greig cephalopolysyndactyly syndrome, Autosomal dominant;Pallister-Hall syndrome, Autosomal dominant;Polydactyly, postaxial, types A1 and B, Autosomal dominant;Polydactyly, preaxial, type IV, Autosomal dominant	0	1477	44	1	0	46	0.0153333	.	.	.	252866	Pallister-Hall_syndrome|Greig_cephalopolysyndactyly_syndrome|not_provided|Polydactyly|not_specified	MONDO:MONDO:0007804,MedGen:C0265220,OMIM:146510,Orphanet:672|MONDO:MONDO:0008287,MedGen:C0265306,OMIM:175700,Orphanet:380|MedGen:C3661900|Human_Phenotype_Ontology:HP:0006034,Human_Phenotype_Ontology:HP:0006046,Human_Phenotype_Ontology:HP:0006123,Human_Phenotype_Ontology:HP:0009605,Human_Phenotype_Ontology:HP:0010442,MONDO:MONDO:0021003,MedGen:C0152427,OMIM:603596|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.226	0.0299272507372	0.0038	0.000998403	0.0044	0.0004	0.0029	0	0.0029	0.0068	0.0055	0.0012	0.004062	628	154602	rs35488756	0.0040	0.0040	0.0038	0.0042	0.0229	0.0039	0.0039	0.0197	0.0185	0.0008	0.0028	0.0083	2.519e-05	0.0025	0.0229	0.0043	0.0044	0.0014	0.0033	0.0033	0.0034	0.0032	0.0050	0.0031	0.0030	0.0046	0.0044	0.0004	0	0.0031	0.0072	0.0002	0.0027	0.0377	0.0050	0.0086	0.0021	0.386	0.10980	T	0.079	0.42086	T	0.017	0.17573	B	0.01	0.14941	B	0.000000	0.84330	D	0.043845	1	0.81001	D	1.905	0.50856	L	-0.39	0.69158	T	-1.97	0.45587	N	0.822	0.81758	-0.7588	0.57471	T	0.218	0.58007	T	10	0.00919497	0.00208	T	0.029927	0.52343	D	0.226	0.52472	0.269	0.21735	0.735286814614	0.73292	0.3599121688930344	0.35905	0.631794354057	0.57122	0.860202550888	0.91141	D	0.364331	0.72993	T	-0.169071	0.25376	T	-0.0131616	0.69478	D	0.0198023934957371	0.00682	T	0.944506	0.78979	D	0.23039405	0.45793	0.28803176	0.54817	0.24898969	0.47890	0.29560518	0.55591	-9.105	0.68369	D	0.7767274389200907	0.85711	0.816	0.78032	P	.;.	.;.	4.526654	0.71028	25.6	0.99819326486150983	0.90238	0.98718	0.85968	D	AEFDBI	0.803880	0.72890	D	0.164509815850464	0.49502	3.149775	0.343521531659773	0.58118	3.980624	1.0	0.98316	0.615465	0.37627	0	0.59043	0.45803	0	0.658983	0.55881	0	0.635551	0.53088	0	.	.	5.81	5.81	0.92413	6.058000	0.70754	5.965000	0.51894	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:1.0:0.0:0.0	20.091	0.97819	894	0.26265	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.018127	0.010101	0.021739	0.014620	0.000000	0.034483	0.015244	0.015152	0.08333	1011.83	33	chr7	42023572	.	C	G	1011.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.302;DP=252;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.97;ReadPosRankSum=-0.561;SOR=0.684	GT:AD:DP:GQ:PL	0/1:33,45:78:99:1022,0,812	5	0	1	0
chr7	43624718	43624718	C	G	exonic	STK17A	.	nonsynonymous SNV	STK17A:NM_004760:exon7:c.C1121G:p.T374S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.074	0.0106320113374	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.368e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.332	0.13045	T	0.317	0.19304	T	0.013	0.16609	B	0.006	0.12133	B	0.032718	0.24992	N	0.277746	0.998147	0.22327	N	2.075	0.57047	M	-0.19	0.65931	T	0.48	0.03041	N	0.064	0.03613	-1.0419	0.16741	T	0.109	0.39392	T	10	0.115400106	0.21741	T	0.010632	0.27388	T	0.074	0.21613	0.163	0.06730	0.613747831775	0.61063	0.2658683285844839	0.26499	0.239766953823	0.26521	0.495270937681	0.38170	T	0.009004	0.08229	T	-0.0823907	0.39325	T	-0.356125	0.38501	T	0.750056266784668	0.43288	D	.	.	.	0.12240565	0.28764	0.066225044	0.13534	0.12240565	0.28764	0.066225044	0.13534	-5.001	0.36851	T	.	.	0.181	0.39305	B	.	.	3.389122	0.46917	22.4	0.9659045393350808	0.30369	0.93177	0.57526	D	AEFGBCI	0.709470	0.66354	D	-0.372321133435478	0.26460	1.444228	-0.16957771568949	0.32663	1.86049	0.99999999377476	0.74766	0.732398	0.92422	0	0.698795	0.70079	0	0.743671	0.96076	0	0.723	0.93126	0	.	.	4.61	3.72	0.41857	6.248000	0.72374	4.362000	0.43121	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.9177:0.0:0.0823	12.521	0.55405	774	0.48577	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1667	90.2	105	chr7	43624718	.	C	G	90.2	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-3.563;DP=532;ExcessHet=0.4139;FS=295.659;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=0.65;ReadPosRankSum=1.16;SOR=8.567	GT:AD:DP:GQ:PL	0/1:64,21:85:56:56,0,1301	4	0	2	0
chr7	47915452	47915452	A	G	exonic	PKD1L1	.	nonsynonymous SNV	PKD1L1:NM_138295:exon8:c.T1208C:p.L403P	Heterotaxy, visceral, 8, autosomal, Autosomal recessive	430	1070	20	2	0	24	0.0110906	.	.	.	700117	PKD1L1-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.162	.	0.0105	0.00479233	0.0075	0.0095	0.0057	0	0.0085	0.0095	0.0088	0.0026	0.0073738	1140	154602	rs146750610	0.0084	0.0084	0.0084	0.0083	0.0130	0.0082	0.0081	0.0103	0.0097	0.0094	0.0065	0.0054	0	0.0076	0.0130	0.0100	0.0084	0.0026	0.0092	0.0092	0.0098	0.0086	0.0112	0.0088	0.0087	0.0105	0.0102	0.0088	0	0.0088	0.0066	0	0.0079	0.0170	0.0112	0.0123	0.0015	0.325	0.13349	T	0.345	0.17750	T	0.659	0.40886	P	0.049	0.25116	B	0.000038	0.00348	U	54.428400	1	0.08975	N	-0.345	0.03330	N	1.65	0.27650	T	-1.03	0.27052	N	0.412	0.45237	-1.0398	0.17374	T	0.023	0.09787	T	9	0.0037185848	0.00069	T	.	.	.	0.162	0.41843	.	.	0.305730143919	0.30178	0.20323975704259653	0.20240	0.15169249651	0.17120	0.442275464535	0.30888	T	0.020967	0.16414	T	-0.596252	0.00154	T	-0.622429	0.10995	T	0.00942255087255087	0.00121	T	0.327867	0.06820	T	0.55444974	0.70202	0.3174846	0.57723	0.55444974	0.70204	0.3174846	0.57722	-5.172	0.38656	T	.	.	0.132	0.28464	B	.	.	0.650242	0.10185	6.928	0.79395962093093431	0.12722	0.00522	0.02430	N	AEFDBI	0.058155	0.10890	N	-0.966124456187936	0.09335	0.4413434	-1.09479251839727	0.07801	0.3809623	0.989391670831821	0.31812	0.569682	0.32691	0	0.563428	0.19063	0	0.578056	0.29568	0	0.567339	0.31927	0	.	.	0.633	0.633	0.16883	0.347000	0.19760	-0.905000	0.06976	0.562000	0.28470	0.237000	0.24716	0.000000	0.08366	0.232000	0.22788	.	.	.	929	0.16858	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	0.011399	0.015152	0.012228	0.010490	0.000000	0.008621	0.012195	0.000000	0.08333	330.83	33	chr7	47915452	.	A	G	330.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.536;DP=213;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=8.07;ReadPosRankSum=-1.404;SOR=0.693	GT:AD:DP:GQ:PL	0/1:25,16:41:99:341,0,645	5	0	1	0
chr7	55472872	55472872	C	T	exonic	VOPP1	.	nonsynonymous SNV	VOPP1:NM_001321246:exon4:c.G424A:p.V142I,VOPP1:NM_001321247:exon4:c.G308A:p.G103D,VOPP1:NM_001321248:exon4:c.G313A:p.V105I,VOPP1:NM_001284282:exon5:c.G451A:p.V151I,VOPP1:NM_001284283:exon5:c.G493A:p.V165I,VOPP1:NM_001284284:exon5:c.G475A:p.V159I,VOPP1:NM_001321242:exon5:c.G521A:p.G174D,VOPP1:NM_001321249:exon5:c.G389A:p.G130D,VOPP1:NM_001321250:exon5:c.G389A:p.G130D,VOPP1:NM_001321251:exon5:c.G389A:p.G130D,VOPP1:NM_030796:exon5:c.G502A:p.V168I,VOPP1:NM_001321243:exon6:c.G428A:p.G143D,VOPP1:NM_001321244:exon6:c.G496A:p.V166I	.	348	1164	10	0	0	10	0.00427716	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.117	0.00611534382965	.	.	0.0019	0	0	0	0	0.0027	0	0.0020	0.0001921	5	26028	rs753017721	0.0007	0.0007	0.0006	0.0007	0.0113	0.0006	0.0006	0.0088	0.0079	0.0005	0.0014	0.0006	0	0	0.0113	0.0007	0.0013	0.0005	0.0007	0.0008	0.0008	0.0006	0.0015	0.0006	0.0006	0.0010	0.0008	0.0002	0	0.0015	0	0	0	0.0172	0.0009	0.0021	0.0005	0.11	0.29158	T	0.082	0.43913	T	0.975	0.58077	D	0.761	0.56482	P	.	.	.	.	0.944262	0.37442	D	1.04	0.26193	L	.	.	.	-0.5	0.20791	N	0.421	0.57433	-0.5813	0.65566	T	0.229	0.59434	T	8	0.02328536	0.00605	T	0.006115	0.15993	T	0.117	0.32689	.	.	0.352262096564	0.34836	0.314835483097391	0.31396	0.699190003716	0.61010	0.651013791561	0.60129	T	0.014112	0.12078	T	-0.341102	0.05312	T	-0.270009	0.47818	T	0.0497159107662204	0.05450	T	0.886711	0.61387	D	0.08660421	0.20136	0.1043666	0.25064	0.08660421	0.20136	0.1043666	0.25063	-7.013	0.57793	T	.	.	0.219	0.45726	B	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	4.067616	0.60414	24.2	0.99855892711894434	0.93458	0.95972	0.66957	D	AEFDGBI	0.529795	0.55076	D	0.553094033045629	0.70272	5.477097	0.60525913816113	0.75320	6.289914	0.999999938675794	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	5.48	5.48	0.80675	5.326000	0.65654	7.594000	0.61341	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.986000	0.61781	0.0:1.0:0.0:0.0	16.846	0.85844	805	0.43675	.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.007937	0.000000	0.008596	0.017699	0.000000	0.017857	0.003676	0.004132	0.08333	276.83	34	chr7	55472872	.	C	T	276.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.909;DP=129;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=38.95;MQRankSum=1.33;QD=13.18;ReadPosRankSum=-0.32;SOR=1.329	GT:AD:DP:GQ:PL	0/1:12,9:21:99:287,0,357	5	0	1	0
chr7	64831925	64831925	G	T	exonic	ZNF138	.	nonsynonymous SNV	ZNF138:NM_001271649:exon2:c.G242T:p.C81F,ZNF138:NM_006524:exon3:c.G605T:p.C202F,ZNF138:NM_001271638:exon4:c.G587T:p.C196F,ZNF138:NM_001271639:exon4:c.G683T:p.C228F,ZNF138:NM_001367572:exon5:c.G512T:p.C171F	.	432	1076	14	0	0	14	0.00646353	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.309	0.0031553014196	0.0007	0.000399361	0.0006	0.0001	0.0010	0	0.0003	0.0008	0	0.0002	0.0005821	90	154602	rs138905610	0.0006	0.0006	0.0006	0.0006	0.0148	0.0005	0.0005	0.0123	0.0113	5.978e-05	0.0014	3.828e-05	0	0.0006	0.0148	0.0005	0.0010	0.0004	0.0007	0.0007	0.0005	0.0008	0.0024	0.0006	0.0005	0.0018	0.0016	9.626e-05	0	0.0024	0	0	0.0011	0	0.0006	0.0028	0.0004	0.0	0.91255	D	0.01	0.65728	D	1.0	0.90584	D	0.998	0.88582	D	.	.	.	.	0.873321	0.81001	D	.	.	.	-2.04	0.85703	D	-10.14	0.99082	D	0.249	0.33140	0.552	0.91260	D	0.785	0.92694	D	9	0.07132569	0.10499	T	0.003155	0.06876	T	0.309	0.63055	.	.	0.866239044016	0.86493	0.06289570206840663	0.06228	0.186690442142	0.20978	.	.	.	.	.	.	-0.182952	0.23298	T	-0.0656537	0.65935	T	0.447367429733276	0.30701	T	0.513049	0.17228	T	.	.	.	.	.	.	.	.	-7.824	0.59865	D	.	.	0.187	0.42007	B	.;.;.	.;.;.	2.242103	0.28630	17.86	0.96916147906401995	0.31597	0.95032	0.63190	D	AEFBI	.	.	.	0.127032862278325	0.47725	2.994357	-0.201096264344503	0.31496	1.783101	0.959529343908383	0.28432	0.615465	0.37627	0	0.633656	0.55848	0	0.658983	0.55881	0	0.655142	0.61905	0	.	.	0.85	0.85	0.18119	5.333000	0.65692	.	.	0.338000	0.19717	1.000000	0.71638	0.000000	0.08366	0.008000	0.08271	0.0:0.0:1.0:0.0	6.997	0.23968	769	0.49307	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;.;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.008621	0.005102	0.010870	0.006061	0.000000	0.025862	0.009202	0.000000	0.08333	389.83	37	chr7	64831925	.	G	T	389.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.45;DP=219;ExcessHet=0;FS=3.166;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.81;ReadPosRankSum=-1.194;SOR=1.473	GT:AD:DP:GQ:PL	0/1:18,15:33:99:400,0,542	5	0	1	0
chr7	73328587	73328587	C	T	exonic	FKBP6	.	nonsynonymous SNV	FKBP6:NM_001135211:exon2:c.C55T:p.R19W,FKBP6:NM_001281304:exon2:c.C70T:p.R24W,FKBP6:NM_001362789:exon2:c.C55T:p.R19W,FKBP6:NM_003602:exon2:c.C70T:p.R24W	.	445	1072	5	0	0	5	0.00232666	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.189	0.0561437235279	0.0012	.	0.0052	0	0	0	0	0.0097	0	0.0016	0.0006531	17	26028	rs200050904	0.0011	0.0011	0.0010	0.0012	0.0058	0.0011	0.0010	0.0040	0.0034	0.0003	0.0014	0.0312	0	0.0002	0.0058	0.0004	0.0025	0.0011	0.0012	0.0012	0.0012	0.0012	0.0013	0.0011	0.0010	0.0006	0.0005	7.249e-05	0	0.0010	0.0324	0	0.0002	0.0204	0.0005	0.0014	0.0013	0.002	0.78490	D	0.002	0.79402	D	1.0	0.90584	D	0.953	0.69275	D	0.005443	0.32788	N	0.283385	0.725583	0.37339	D	2.005	0.54552	M	0.96	0.54911	T	-4.42	0.82511	D	0.481	0.56058	-0.6971	0.60577	T	0.212	0.57281	T	10	0.006667465	0.00151	T	0.056144	0.66496	D	0.189	0.46613	.	.	0.679133280349	0.67640	0.58584769241392	0.58514	3.16284728334	0.99441	0.589020073414	0.51356	T	0.453419	0.79336	T	-0.332762	0.05904	T	-0.296318	0.45112	T	0.0818965229481857	0.10228	T	0.871513	0.76258	D	0.33831328	0.56145	0.19547594	0.43226	0.33831328	0.56145	0.19547594	0.43225	-6.761	0.52871	T	.	.	0.163	0.41357	B	.;.;.;.	.;.;.;.	2.506047	0.32358	19.02	0.99823427877770454	0.90590	0.69066	0.34042	D	AEFBI	0.363383	0.45230	N	-0.141046962142459	0.35618	2.048083	-0.290082718162603	0.28425	1.584778	0.0221436412040732	0.13407	0.516011	0.20929	0	0.693144	0.66847	0	0.576033	0.28219	0	0.586402	0.36253	0	.	.	4.66	1.29	0.20717	1.049000	0.30001	1.396000	0.26156	0.469000	0.21855	0.907000	0.31601	0.998000	0.33993	0.154000	0.20445	0.237:0.763:0.0:0.0	13.636	0.61694	899	0.25060	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.005740	0.000000	0.011142	0.004545	0.000000	0.000000	0.000000	0.000000	0.08333	262.05	36	chr7	73328587	.	C	T	262.05	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.544;DP=137;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=36.43;MQRankSum=0.15;QD=10.92;ReadPosRankSum=-0.996;SOR=0.602	GT:AD:DP:GQ:PL	0/1:14,10:24:99:272,0,428	5	0	1	0
chr7	74254319	74254319	G	A	exonic	RFC2	.	nonsynonymous SNV	RFC2:NM_002914:exon1:c.C65T:p.P22L,RFC2:NM_181471:exon1:c.C65T:p.P22L	.	.	.	.	.	.	.	.	.	.	.	2200427	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.041	0.014625254608	.	.	9.568e-06	0	0	0	0	1.725e-05	0	0	6.5e-06	1	154602	rs782571058	1.78e-05	1.779e-05	1.772e-05	1.789e-05	0.0007	1.239e-05	1.052e-05	0.0002	0.0001	0	0	0.0002	0	0	0.0007	1.259e-05	6.638e-05	0	1.314e-05	1.313e-05	1.285e-05	1.345e-05	2.94e-05	2.18e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.94e-05	0	0	0.049	0.42199	D	0.052	0.47581	T	0.062	0.23277	B	0.013	0.16460	B	0.321481	0.14264	N	0.706063	0.999986	0.18198	N	1.24	0.30952	L	2.1	0.19990	T	-0.87	0.28703	N	0.24	0.27792	-1.0793	0.07485	T	0.047	0.19998	T	10	0.12724239	0.24197	T	0.014625	0.34872	T	0.041	0.10877	0.245	0.17984	0.448201132538	0.44443	0.6198663752458715	0.61919	0.525322443723	0.50200	0.64301431179	0.58993	T	0.124776	0.45003	T	-0.180425	0.23672	T	-0.496944	0.22666	T	0.194092303514481	0.20083	T	0.781022	0.41604	T	0.07218538	0.16038	0.13583125	0.32511	0.07218538	0.16038	0.13583125	0.32510	-4.322	0.30902	T	.	.	0.087	0.12655	B	.;.	.;.	2.503856	0.32326	19.01	0.97028354299351527	0.32055	0.19935	0.20852	N	AEFGBHCIJ	0.180711	0.30803	N	-0.498184492165391	0.22141	1.180111	-0.483032789505551	0.22621	1.229555	1.0	0.98316	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	4.89	4.89	0.63387	1.254000	0.32500	5.408000	0.48530	0.676000	0.76740	0.003000	0.16062	0.978000	0.30204	0.011000	0.09372	0.0:0.0:1.0:0.0	15.282	0.73495	894	0.26265	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	745.83	33	chr7	74254319	.	G	A	745.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.563;DP=203;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=18.19;ReadPosRankSum=-1.499;SOR=0.765	GT:AD:DP:GQ:PL	0/1:14,27:41:99:756,0,308	5	0	1	0
chr7	77618562	77618562	G	A	exonic	PTPN12	.	nonsynonymous SNV	PTPN12:NM_001131009:exon11:c.G632A:p.R211H,PTPN12:NM_001131008:exon12:c.G665A:p.R222H,PTPN12:NM_002835:exon12:c.G1022A:p.R341H	Colon cancer, somatic	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.229	0.02820688658	.	.	1.655e-05	0	0	0	0	3.006e-05	0	0	1.94e-05	3	154602	rs751126065	4.16e-05	4.653e-05	3.455e-05	4.871e-05	0.0002	3.289e-05	2.959e-05	3.598e-05	3.252e-05	6.068e-05	0	0	2.536e-05	0	0.0002	4.655e-05	5.023e-05	2.345e-05	2.63e-05	2.627e-05	2.571e-05	2.693e-05	4.412e-05	8.15e-06	5.14e-06	1.171e-05	6.25e-06	2.415e-05	0	0	0	0	0	0	4.412e-05	0	0	0.0	0.91255	D	0.056	0.47097	T	1.0	0.90584	D	0.998	0.88582	D	0.000000	0.84330	D	0.000000	0.999999	0.58761	D	2.565	0.75005	M	1.43	0.32958	T	-1.7	0.42384	N	0.736	0.74553	-0.7544	0.57705	T	0.200	0.55541	T	10	0.56817377	0.65169	D	0.028207	0.50918	D	0.229	0.52916	0.205	0.12076	0.502820412485	0.49921	0.38009217394039396	0.37924	0.146583872415	0.16547	0.797510921955	0.81585	T	0.192666	0.54788	T	-0.0588183	0.43092	T	-0.140737	0.60055	T	0.801505267620087	0.46456	D	0.963104	0.86259	D	0.5095269	0.67652	0.30323717	0.56355	0.5095269	0.67653	0.30323717	0.56354	-3.138	0.19584	T	.	.	0.665	0.76470	P	.;.;.	.;.;.	5.367350	0.89995	31	0.99939823284859497	0.99767	0.99369	0.95128	D	AEFBI	0.908405	0.86369	D	0.795804178112697	0.85841	8.698675	0.774511610079471	0.87970	9.410445	0.99999924064726	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.21	5.21	0.72005	8.281000	0.89833	8.653000	0.77941	0.509000	0.23192	1.000000	0.71638	1.000000	0.68203	0.972000	0.54974	0.0:0.0:1.0:0.0	19.107	0.93282	883	0.28872	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	576.83	36	chr7	77618562	.	G	A	576.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.995;DP=241;ExcessHet=0;FS=0.952;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=9.16;ReadPosRankSum=0.379;SOR=0.547	GT:AD:DP:GQ:PL	0/1:34,29:63:99:587,0,773	5	0	1	0
chr7	83155272	83155272	C	T	exonic	PCLO	.	nonsynonymous SNV	PCLO:NM_014510:exon2:c.G1369A:p.G457R,PCLO:NM_033026:exon2:c.G1369A:p.G457R	.	428	1073	19	2	0	23	0.010604	.	.	.	700246	not_provided|Inborn_genetic_diseases	MedGen:C3661900|MeSH:D030342,MedGen:C0950123	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.042	.	0.0023	0.00239617	0.0041	0.0003	0.0029	0	0.0003	0.0041	0.0022	0.0107	0.0038357	593	154602	rs144574814	0.0046	0.0046	0.0044	0.0048	0.0160	0.0045	0.0044	0.0133	0.0124	0.0006	0.0024	0.0185	0	0.0003	0.0160	0.0042	0.0056	0.0113	0.0031	0.0031	0.0030	0.0032	0.0139	0.0029	0.0028	0.0112	0.0103	0.0009	0	0.0019	0.0196	0	0.0002	0.0170	0.0038	0.0057	0.0139	0.433	0.09458	T	0.025	0.56192	D	0.157	0.28234	B	0.024	0.20255	B	.	.	.	.	1	0.08975	N	.	.	.	2.38	0.15964	T	-1.08	0.28084	N	0.211	0.23506	-1.0117	0.26385	T	0.026	0.10998	T	9	0.0049199164	0.00105	T	.	.	.	0.042	0.11227	0.31	0.28289	0.0675242888579	0.06100	0.0882736804711831	0.08760	0.265799251449	0.29129	0.24127009511	0.02906	T	.	.	.	-0.691899	0.00041	T	-0.75868	0.03160	T	0.00888627188882829	0.00110	T	0.645335	0.25688	T	0.03834431	0.05089	0.057530824	0.10473	0.038431603	0.05118	0.06815152	0.14193	-8.652	0.65431	D	.	.	0.236	0.46927	B	.;.	.;.	1.252155	0.16489	12.57	0.89555626376048347	0.18898	0.11480	0.16662	N	AEFI	0.115531	0.22712	N	-0.914395105151028	0.10505	0.5023057	-0.99146945926259	0.09976	0.4995761	9.88023819527639E-5	0.04910	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	3.77	-0.0247	0.13263	0.751000	0.26013	-2.306000	0.03922	0.598000	0.34611	0.000000	0.06391	0.000000	0.08366	0.007000	0.07825	0.0:0.5446:0.0:0.4554	7.943	0.29131	845	0.36510	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	0.006546	0.000000	0.004076	0.017544	0.050000	0.008621	0.006098	0.011364	0.08333	639.83	36	chr7	83155272	.	C	T	639.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.06;DP=235;ExcessHet=0;FS=2.709;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=15.61;ReadPosRankSum=0.209;SOR=0.512	GT:AD:DP:GQ:PL	0/1:20,21:41:99:650,0,563	5	0	1	0
chr7	95284095	95284095	T	C	exonic	PPP1R9A	.	nonsynonymous SNV	PPP1R9A:NM_001166161:exon15:c.T3254C:p.M1085T,PPP1R9A:NM_001166162:exon15:c.T3308C:p.M1103T,PPP1R9A:NM_001166160:exon17:c.T3374C:p.M1125T	.	429	1091	2	0	0	2	0.000915751	.	.	.	711200	not_provided|PPP1R9A-related_disorder	MedGen:C3661900|.	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.101	0.0144835210125	0.0076	0.00219649	0.0057	0.0015	0.0019	0	0.0036	0.0092	0.0034	0.0013	0.0055239	854	154602	rs117573976	0.0091	0.0091	0.0095	0.0088	0.0109	0.0090	0.0089	0.0108	0.0107	0.0010	0.0031	0.0019	0	0.0049	0.0017	0.0109	0.0081	0.0013	0.0053	0.0053	0.0055	0.0050	0.0088	0.0050	0.0049	0.0082	0.0079	0.0014	0	0.0058	0.0017	0.0002	0.0044	0	0.0088	0.0033	0.0004	0.001	0.78490	D	0.035	0.69154	D	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	2.4	0.15843	T	-2.37	0.54864	N	0.285	0.39760	-1.0493	0.14593	T	0.020	0.08266	T	9	0.007053435	0.00160	T	0.014484	0.34624	T	0.101	0.28911	.	.	0.31291088546	0.30898	0.2968393850924641	0.29596	0.221745772331	0.24710	0.442933440208	0.30979	T	.	.	.	-0.541011	0.00330	T	-0.542795	0.18023	T	0.0287728413600755	0.01803	T	0.554445	0.19192	T	.	.	.	.	.	.	.	.	-0.761	0.01818	T	.	.	0.277	0.58803	B	.;.;.;.	.;.;.;.	3.417908	0.47442	22.5	0.94411546735286067	0.24810	0.97257	0.73623	D	AEFBI	0.651074	0.62495	D	-0.136208238478353	0.35824	2.062627	0.0537676078992911	0.42254	2.552576	0.99812091106589	0.36460	0.562547	0.31514	0	0.573888	0.26702	0	0.608884	0.39905	0	0.620846	0.47308	0	.	.	4.4	4.4	0.52402	4.487000	0.60022	4.003000	0.41092	-0.120000	0.14102	1.000000	0.71638	1.000000	0.68203	0.711000	0.34484	0.0:0.0:0.0:1.0	14.697	0.68742	844	0.36711	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.001007	0.005051	0.001359	0.000000	0.000000	0.000000	0.003049	0.000000	0.08333	1644.83	34	chr7	95284095	.	T	C	1644.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.876;DP=350;ExcessHet=0;FS=5.571;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=9.97;ReadPosRankSum=1.36;SOR=1.047	GT:AD:DP:GQ:PL	0/1:91,74:165:99:1655,0,2344	5	0	1	0
chr7	95592889	95592889	T	C	exonic	PDK4	.	nonsynonymous SNV	PDK4:NM_002612:exon4:c.A400G:p.M134V	.	437	1034	49	2	0	53	0.0249882	.	.	.	722756	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.249	.	0.0033	0.00858626	0.0067	0.0013	0.0035	0.0001	0.0003	0.0069	0.0089	0.0174	0.0065394	1011	154602	rs144262262	0.0051	0.0051	0.0046	0.0056	0.0397	0.0050	0.0050	0.0355	0.0339	0.0015	0.0047	0.0445	0	0.0004	0.0397	0.0035	0.0081	0.0158	0.0049	0.0049	0.0048	0.0050	0.0161	0.0046	0.0045	0.0133	0.0122	0.0008	0.0077	0.0088	0.0450	0.0002	0.0008	0.0308	0.0044	0.0099	0.0161	0.076	0.34269	T	0.135	0.34124	T	0.565	0.38434	P	0.729	0.55225	P	0.000000	0.84330	D	0.033626	1	0.81001	D	2.135	0.59519	M	1.41	0.33412	T	-3.65	0.69950	D	0.838	0.83371	-0.9886	0.32953	T	0.091	0.34847	T	10	0.015191466	0.00319	T	.	.	.	0.249	0.55752	.	.	0.47290127212	0.46918	0.8276107065165884	0.82719	0.475302677234	0.46711	0.502338647842	0.39154	T	0.492506	0.81643	T	-0.218354	0.18219	T	-0.0734536	0.65379	T	0.0402720909980972	0.03740	T	0.962404	0.85901	D	0.7293651	0.79687	0.6762805	0.80990	0.7293651	0.79689	0.6762805	0.80990	-6.626	0.51251	T	.	.	0.178	0.38836	B	.	.	4.667868	0.74577	26.2	0.97712210610986427	0.35501	0.92415	0.55659	D	AEFGBCI	0.911945	0.87192	D	0.518253502972479	0.68171	5.180456	0.563569092563689	0.72348	5.795517	0.999999999249284	0.74766	0.554377	0.28877	0	0.573888	0.26702	0	0.573888	0.23631	0	0.567892	0.33627	0	.	.	5.54	5.54	0.82907	6.221000	0.72188	7.885000	0.72726	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.986000	0.61781	0.0:0.0:0.0:1.0	15.992	0.80010	889	0.27310	Branched-chain alpha-ketoacid dehydrogenase kinase/Pyruvate dehydrogenase kinase, N-terminal	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.025680	0.025253	0.016304	0.070175	0.000000	0.068966	0.009146	0.011364	0.08333	1391.83	33	chr7	95592889	.	T	C	1391.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.614;DP=319;ExcessHet=0;FS=2.234;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.23;ReadPosRankSum=-0.607;SOR=0.943	GT:AD:DP:GQ:PL	0/1:79,57:136:99:1402,0,2147	5	0	1	0
chr7	100175805	100175805	G	C	exonic	GPC2	.	nonsynonymous SNV	GPC2:NM_152742:exon3:c.C415G:p.L139V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.015	0.0084618148058	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	5.746e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.215	0.19293	T	0.264	0.22761	T	0.002	0.09854	B	0.003	0.08700	B	0.011788	0.29400	N	0.319847	0.999984	0.18198	N	1.1	0.28011	L	0.82	0.48142	T	0.09	0.05917	N	0.115	0.10340	-1.0389	0.17648	T	0.045	0.19194	T	10	0.06973243	0.10047	T	0.008462	0.22382	T	0.015	0.02232	0.409	0.44395	0.260249123532	0.25628	0.12418845572528417	0.12344	0.308157786748	0.33120	0.309577137232	0.11843	T	0.086908	0.37827	T	-0.283254	0.10325	T	-0.644651	0.09334	T	0.086081848684672	0.10746	T	0.442656	0.12286	T	0.043123998	0.06666	0.05641909	0.10077	0.043123998	0.06665	0.05641909	0.10077	-4.159	0.26155	T	.	.	0.065	0.01960	B	.	.	1.692672	0.21567	15.25	0.93331368040686369	0.23058	0.23428	0.22073	N	AEFBI	0.121001	0.23544	N	-0.863199556233683	0.11727	0.5675084	-0.716315475991125	0.16555	0.876308	0.999171803000595	0.38651	0.52065	0.21626	1	0.588066	0.40923	0	0.719019	0.79029	0	0.604944	0.38103	0	.	.	5.06	2.18	0.26813	0.676000	0.24927	3.139000	0.36475	-0.186000	0.09761	0.000000	0.06391	1.000000	0.68203	0.968000	0.53726	0.0949:0.3504:0.5547:0.0	7.051	0.24254	285	0.88719	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	2118.86	96	chr7	100175805	.	G	C	2118.86	.	AC=5;AF=0.5;AN=10;BaseQRankSum=-1.196;DP=445;ExcessHet=6.1542;FS=481.35;MLEAC=5;MLEAF=0.5;MQ=60;MQRankSum=0;QD=5.55;ReadPosRankSum=1.46;SOR=9.673	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:40,28:68:99:0|1:100175805_G_C:583,0,1139:100175805	0	0	5	1
chr7	100177184	100177184	G	A	exonic	GPC2	.	nonsynonymous SNV	GPC2:NM_152742:exon1:c.C16T:p.P6S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.042	0.0105524294306	.	.	4.492e-05	0	0	0	0	0	0	0.0003	3.23e-05	5	154602	rs762233816	8.899e-06	8.893e-06	2.724e-06	1.514e-05	0.0001	4.97e-06	3.83e-06	7.134e-05	5.489e-05	0	0	0	0	0	0	8.995e-07	1.658e-05	0.0001	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.427	0.09629	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.275968	0.15036	N	0.632829	0.99898	0.21747	N	0.435	0.12660	N	1.23	0.36872	T	-0.9	0.24244	N	0.062	0.03392	-1.0027	0.29139	T	0.029	0.12365	T	10	0.057523787	0.06621	T	0.010552	0.27217	T	0.042	0.11227	0.259	0.20159	0.130388298395	0.12655	0.4722806840888063	0.47147	0.30379330075	0.32703	0.564588904381	0.47915	T	0.10472	0.41453	T	-0.524219	0.00416	T	-0.731101	0.04278	T	0.0406968318877805	0.03816	T	0.368563	0.08641	T	0.033237256	0.03503	0.039068963	0.03917	0.033237256	0.03502	0.039068963	0.03917	-5.185	0.38789	T	.	.	0.074	0.05274	B	.	.	0.535181	0.09040	5.821	0.83491396327980649	0.14755	0.05086	0.10883	N	ALL	0.055162	0.10093	N	-1.53276491824844	0.01638	0.07162088	-1.43188445853391	0.02938	0.1361169	0.999997678952591	0.74766	0.56387	0.32371	0	0.552344	0.17405	0	0.52208	0.10781	0	0.372554	0.06265	0	.	.	4.29	-0.161	0.12716	-0.007000	0.12747	1.501000	0.26956	-0.973000	0.01932	0.917000	0.31872	0.998000	0.33993	0.060000	0.15972	0.4343:0.0:0.3352:0.2305	2.795	0.05067	287	0.88635	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	229.83	30	chr7	100177184	.	G	A	229.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.277;DP=180;ExcessHet=0;FS=1.619;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=9.19;ReadPosRankSum=2;SOR=1.27	GT:AD:DP:GQ:PL	0/1:14,11:25:99:240,0,336	5	0	1	0
chr7	100773851	100773851	A	0	exonic	ZAN	.	.	.	.	428	140	242	44	668	998	0.540984	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	1519.29	59	chr7	100773851	.	A	*	1519.29	.	AC=6;AF=0.5;AN=12;BaseQRankSum=2.73;DP=392;ExcessHet=0.7136;FS=2.532;MLEAC=6;MLEAF=0.5;MQ=60;MQRankSum=0;QD=4.47;ReadPosRankSum=-1.128;SOR=0.863	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,60:60:99:1|1:100773849_CCAT_C:2692,181,0:100773849	2	2	2	0
chr7	100952945	100952945	C	0	exonic	MUC3A	.	.	.	.	418	423	166	0	515	681	0.164032	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4167	161.04	564	chr7	100952945	.	C	*	161.04	.	AC=5;AF=0.417;AN=12;BaseQRankSum=-2.413;DP=3234;ExcessHet=11.5949;FS=1.131;MLEAC=5;MLEAF=0.417;MQ=57.61;MQRankSum=-6.949;QD=0.05;ReadPosRankSum=2.07;SOR=0.721	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:356,148:636:99:0|1:100952784_C_A:5143,0,14503:100952784	1	0	5	0
chr7	100953156	100953156	C	0	exonic	MUC3A	.	.	.	.	685	537	148	21	131	321	0.150316	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	12083.3	432	chr7	100953156	.	C	*	12083.3	.	AC=6;AF=0.5;AN=12;BaseQRankSum=3.79;DP=2629;ExcessHet=6.1542;FS=9.412;MLEAC=6;MLEAF=0.5;MQ=57.38;MQRankSum=-13.85;QD=4.61;ReadPosRankSum=0.526;SOR=1.238	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:277,87:404:99:0|1:100953112_T_A:2819,0,11369:100953112	0	0	6	0
chr7	100953539	100953539	C	A	exonic	MUC3A	.	nonsynonymous SNV	MUC3A:NM_005960:exon2:c.C1760A:p.P587H	.	784	663	71	3	1	78	0.0548824	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.035e-05	3.18e-05	1.419e-05	6.712e-06	1.076e-05	2.75e-06	7.6e-07	1.79e-06	6.7e-07	0	0	0	0	0	0	1.076e-05	5.308e-05	0	2.547e-05	0.0002	1.665e-05	3.465e-05	8.239e-05	6.77e-06	2.88e-06	6.2e-06	2.32e-06	0	0	8.239e-05	0	0	0	0	3.737e-05	0	0	.	.	.	0.022	0.57587	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.066	0.03841	.	.	.	.	.	.	.	0.09901434	0.17941	T	.	.	.	.	.	.	.	.	.	0.06298223924897405	0.06237	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.234777	0.03226	T	.	.	.	.	.	.	.	.	-7.153	0.55143	T	.	.	0.178	0.38889	B	.;.	.;.	1.495620	0.19233	14.16	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.159000	0.31360	-4.775000	0.01992	0.470000	0.21925	0.002000	0.15269	0.000000	0.08366	0.003000	0.05239	.	.	.	809	0.43032	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	3072.09	698	chr7	100953539	.	C	A	3072.09	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.712;DP=4439;ExcessHet=0.4139;FS=1.725;MLEAC=1;MLEAF=0.083;MQ=56.66;MQRankSum=-2.329;QD=2.23;ReadPosRankSum=-0.527;SOR=0.873	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:560,79:639:99:.:.:724,0,22289:.	5	0	1	0
chr7	100954855	100954855	A	G	exonic	MUC3A	.	nonsynonymous SNV	MUC3A:NM_005960:exon2:c.A3076G:p.T1026A	.	807	709	4	2	0	8	0.0056101	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.536e-06	5.884e-05	7.191e-06	0	.	0	0	.	.	0	0	0	0	4.431e-05	0	0	0	0	2.25e-05	0.0015	0	4.61e-05	0.0002	5.98e-06	2.66e-06	.	.	0	0	7.67e-05	0	0.0002	0.0001	0	0	0	0	.	.	.	0.088	0.40747	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.035	0.01825	.	.	.	.	.	.	.	0.08561024	0.14470	T	.	.	.	.	.	.	.	.	.	0.0396548642750254	0.03911	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.267173	0.04416	T	.	.	.	.	.	.	.	.	-7.48	0.57470	T	.	.	0.126	0.26669	B	.;.	.;.	-0.093702	0.03679	0.743	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.087000	0.11181	-2.695000	0.03458	-0.764000	0.03494	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	809	0.43032	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	184.83	291	chr7	100954855	.	A	G	184.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=5.62;DP=2024;ExcessHet=0;FS=33.676;MLEAC=1;MLEAF=0.083;MQ=58.53;MQRankSum=-14.42;QD=0.57;ReadPosRankSum=-0.132;SOR=3.096	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:298,26:324:99:0|1:100954830_C_A:195,0,12435:100954830	5	0	1	0
chr7	100954858	100954858	A	G	exonic	MUC3A	.	nonsynonymous SNV	MUC3A:NM_005960:exon2:c.A3079G:p.T1027A	.	1002	512	6	2	0	10	0.00967118	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1253536811	2.526e-05	0.0001	2.204e-05	2.837e-05	0.0001	1.149e-05	7.74e-06	4.5e-06	2.25e-06	0.0001	0	0	0	4.49e-05	0	1.693e-05	5.48e-05	0.0001	3.283e-05	0.0029	2.153e-05	4.451e-05	0.0003	8.72e-06	4.42e-06	.	.	0	0	0.0001	0	0.0003	0	0	2.354e-05	0	0	.	.	.	0.063	0.45110	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.031	0.02559	.	.	.	.	.	.	.	0.08334914	0.13855	T	.	.	.	.	.	.	.	.	.	0.04319746289071145	0.04264	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.183182	0.01877	T	.	.	.	.	.	.	.	.	-7.357	0.56600	T	.	.	0.113	0.22208	B	.;.	.;.	-0.076276	0.03784	0.796	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.178000	0.31590	-5.132000	0.01836	-0.764000	0.03494	0.001000	0.13787	0.000000	0.08366	0.000000	0.00833	.	.	.	809	0.43032	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1667	226.9	291	chr7	100954858	.	A	G	226.9	.	AC=1;AF=0.167;AN=6;BaseQRankSum=5.59;DP=2032;ExcessHet=0;FS=33.811;MLEAC=1;MLEAF=0.167;MQ=58.54;MQRankSum=-14.16;QD=0.7;ReadPosRankSum=0.443;SOR=3.178	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:299,27:326:99:0|1:100954830_C_A:234,0,12474:100954830	2	0	1	3
chr7	100954873	100954873	G	A	exonic	MUC3A	.	nonsynonymous SNV	MUC3A:NM_005960:exon2:c.G3094A:p.A1032T	.	771	738	8	5	0	18	0.0120482	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1410727845	0.0001	0.0027	0.0001	0.0001	0.0007	0.0001	8.922e-05	0.0004	0.0003	0	0	0	0	0.0001	0	0.0001	0.0002	0.0007	0.0006	0.0093	0.0005	0.0008	0.0016	0.0005	0.0004	0.0006	0.0005	0.0005	0	0.0013	0.0008	0.0016	0.0005	0	0.0004	0.0013	0.0010	.	.	.	0.727	0.05238	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.018	0.00252	.	.	.	.	.	.	.	0.038853675	0.02333	T	.	.	.	.	.	.	.	.	.	0.013919596383098391	0.01348	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.327667	0.06803	T	.	.	.	.	.	.	.	.	-4.693	0.33319	T	.	.	0.093	0.14015	B	.;.	.;.	-0.940757	0.00860	0.030	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-1.046000	0.03635	-3.144000	0.03024	-1.059000	0.01621	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	.	.	.	809	0.43032	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1667	904.9	291	chr7	100954873	.	G	A	904.9	.	AC=1;AF=0.167;AN=6;BaseQRankSum=-1.092;DP=2116;ExcessHet=0;FS=25.256;MLEAC=1;MLEAF=0.167;MQ=58.58;MQRankSum=-11.98;QD=2.66;ReadPosRankSum=-0.197;SOR=2.146	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:297,43:340:99:0|1:100954830_C_A:912,0,12342:100954830	2	0	1	3
chr7	100956002	100956002	C	A	exonic	MUC3A	.	nonsynonymous SNV	MUC3A:NM_005960:exon2:c.C4223A:p.T1408K	.	737	766	17	2	0	21	0.0135222	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1031611977	8.417e-05	0.0007	8.521e-05	8.322e-05	0.0004	6e-05	5.198e-05	0.0002	0.0001	0	5.954e-05	0	0	7.546e-05	0	8.937e-05	4.724e-05	0.0004	0.0005	0.0088	0.0005	0.0006	0.0019	0.0004	0.0004	0.0010	0.0007	0.0001	0	0.0006	0.0003	0	0.0013	0	0.0006	0.0010	0.0019	.	.	.	0.016	0.60972	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.089	0.06720	.	.	.	.	.	.	.	0.055023044	0.05949	T	.	.	.	.	.	.	.	.	.	0.055842908081126706	0.05525	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.275372	0.05417	T	.	.	.	.	.	.	.	.	-8.63	0.65287	D	.	.	0.197	0.41947	B	.;.	.;.	0.269045	0.06469	2.944	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.126000	0.10539	-6.448000	0.01396	-0.256000	0.07045	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	.	.	.	809	0.43032	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1011.83	644	chr7	100956002	.	C	A	1011.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.625;DP=3618;ExcessHet=0;FS=1.802;MLEAC=1;MLEAF=0.083;MQ=58.29;MQRankSum=-13.23;QD=2.15;ReadPosRankSum=-3.79;SOR=0.905	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:415,55:470:99:0|1:100955991_C_T:1022,0,17260:100955991	5	0	1	0
chr7	101003281	101003281	G	A	exonic	MUC12	.	nonsynonymous SNV	MUC12:NM_001164462:exon2:c.G12718A:p.V4240I	.	413	1106	3	0	0	3	0.0013544	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.00574796016007	.	.	0.0017	0	0	0.0059	0	0.0005	0	0.0038	0.0001153	3	26028	rs762695880	0.0002	0.0007	0.0002	0.0003	0.0013	0.0002	0.0002	0.0011	0.0010	0.0001	0.0001	7.961e-05	0.0003	8.592e-05	0.0004	0.0002	0.0001	0.0013	0.0003	0.0005	0.0002	0.0003	0.0025	0.0002	0.0002	0.0014	0.0011	0.0001	0	0.0001	0.0006	0	0.0001	0	0.0003	0.0005	0.0025	0.528	0.07093	T	0.494	0.11407	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	0.345	0.11182	N	2.76	0.11515	T	0.05	0.07299	N	0.031	0.00825	-0.9657	0.38073	T	0.013	0.05081	T	7	0.006115705	0.00138	T	0.005748	0.14922	T	0.004	0.00165	.	.	0.0138822411134	0.00435	0.0016236875894308192	0.00150	.	.	0.499606072903	0.38773	T	0.003587	0.02990	T	-0.427465	0.01536	T	-0.851801	0.00937	T	0.00589624420234789	0.00065	T	0.183882	0.01946	T	0.020965537	0.00675	0.026132151	0.00686	0.020965537	0.00675	0.026132151	0.00686	-3.812	0.20984	T	.	.	0.085	0.13268	B	.;.	.;.	-0.531976	0.01766	0.134	0.31265973891078286	0.01753	0.00131	0.00809	N	AEFBI	0.031370	0.03344	N	-1.74949833397045	0.00681	0.02937943	-1.90786987961224	0.00472	0.02091665	6.16072488393289E-5	0.04366	0.553676	0.25195	0	0.588015	0.36545	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	0.801	-0.17	0.12681	-3.350000	0.00557	-20.000000	0.00162	-3.460000	0.00083	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.601:0.2209:0.1781	4.486	0.11205	818	0.41518	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	862.83	323	chr7	101003281	.	G	A	862.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=3.34;DP=1133;ExcessHet=0;FS=0.775;MLEAC=1;MLEAF=0.083;MQ=40.01;MQRankSum=-0.968;QD=2.1;ReadPosRankSum=2.47;SOR=0.861	GT:AD:DP:GQ:PL	0/1:339,72:411:99:873,0,8369	5	0	1	0
chr7	102467723	102467723	G	A	exonic	LRWD1	.	nonsynonymous SNV	LRWD1:NM_001317721:exon5:c.G122A:p.R41Q,LRWD1:NM_152892:exon5:c.G578A:p.R193Q	.	417	1086	16	3	0	22	0.0100273	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.094	.	0.0042	0.00279553	0.0073	0.0012	0.0048	0	0	0.0065	0.0155	0.0106	0.0021539	333	154602	rs75691611	0.0063	0.0061	0.0061	0.0065	0.0113	0.0062	0.0062	0.0107	0.0105	0.0013	0.0015	0.0145	2.797e-05	0.0011	0.0035	0.0065	0.0065	0.0113	0.0044	0.0044	0.0048	0.0039	0.0100	0.0041	0.0040	0.0077	0.0069	0.0012	0.0220	0.0022	0.0156	0	0.0011	0	0.0064	0.0033	0.0100	0.143	0.25355	T	0.046	0.49390	D	0.07	0.23866	B	0.003	0.08700	B	0.178910	0.17158	N	0.617387	0.980653	0.25096	N	1.455	0.36767	L	0.2	0.60111	T	-0.24	0.10833	N	0.131	0.12627	-1.0033	0.28963	T	0.100	0.37239	T	10	0.0036244392	0.00066	T	.	.	.	0.094	0.27141	.	.	0.451977122513	0.44822	0.18113014087520377	0.18032	0.0558576121021	0.06173	0.21189725399	0.00894	T	0.002701	0.02096	T	-0.624362	0.00103	T	-0.659242	0.08318	T	0.0122487797161882	0.00198	T	0.810019	0.46084	T	0.035308044	0.04132	0.051805	0.08411	0.035308044	0.04132	0.051805	0.08410	-3.688	0.19141	T	.	.	0.067	0.02342	B	.;.	.;.	1.991604	0.25300	16.71	0.98617556883053192	0.43731	0.07473	0.13489	N	AEFDBCI	0.051330	0.09060	N	-0.918712162103249	0.10404	0.4970483	-0.921791199566853	0.11580	0.5908304	0.998495800390485	0.37071	0.67177	0.52595	0	0.702456	0.74545	0	0.723109	0.80598	0	0.699875	0.68795	0	.	.	5.02	-4.02	0.03764	-1.068000	0.03558	-3.470000	0.02762	-0.734000	0.03706	0.092000	0.22623	0.000000	0.08366	0.090000	0.17789	0.7197:0.0:0.2803:0.0	11.838	0.51615	525	0.74024	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001665	0.005435	0.000000	0.000000	0.000000	0.010000	0.000000	0.004167	0.08333	831.83	36	chr7	102467723	.	G	A	831.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.1;DP=252;ExcessHet=0;FS=2.001;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.06;ReadPosRankSum=-0.337;SOR=0.919	GT:AD:DP:GQ:PL	0/1:37,32:69:99:842,0,792	5	0	1	0
chr7	103561701	103561701	C	T	exonic	RELN	.	nonsynonymous SNV	RELN:NM_005045:exon36:c.G5360A:p.R1787Q,RELN:NM_173054:exon36:c.G5360A:p.R1787Q	Lissencephaly 2 (Norman-Roberts type), Autosomal recessive	0	1517	5	0	0	5	0.00164528	.	.	.	991867	Familial_temporal_lobe_epilepsy_7|Norman-Roberts_syndrome|Inborn_genetic_diseases	MONDO:MONDO:0014639,MedGen:C4225327,OMIM:616436,Orphanet:101046|MONDO:MONDO:0009760,MedGen:C0796089,OMIM:257320,Orphanet:89844|MeSH:D030342,MedGen:C0950123	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.202	0.0171510248389	.	.	4.133e-05	0	0	0	0	3.005e-05	0	0.0002	3.23e-05	5	154602	rs372887562	3.558e-05	3.557e-05	2.587e-05	4.538e-05	0.0005	2.763e-05	2.502e-05	0.0003	0.0003	2.988e-05	2.238e-05	3.827e-05	2.521e-05	0	0	7.195e-06	1.656e-05	0.0005	1.315e-05	1.314e-05	1.285e-05	1.346e-05	1.471e-05	2.19e-06	8.2e-07	.	.	0	0	0	0	0	9.429e-05	0	1.471e-05	0	0	0.227	0.18498	T	0.132	0.34477	T	0.998	0.73220	D	0.963	0.70837	D	0.000001	0.84330	D	0.055160	0.998545	0.45064	D	-0.4	0.02994	N	2.73	0.11839	T	-0.79	0.21860	N	0.462	0.52386	-1.0636	0.10878	T	0.055	0.23375	T	10	0.33844578	0.50949	T	0.017151	0.38730	T	0.202	0.48754	0.444	0.50139	0.451230547186	0.44747	0.3560523682695205	0.35519	0.740407204184	0.63230	0.477631121874	0.35731	T	0.059062	0.31014	T	-0.373927	0.03400	T	-0.478705	0.24583	T	0.226812764900873	0.21799	T	0.884712	0.60854	D	0.19714502	0.41568	0.20930566	0.45269	0.19714502	0.41568	0.20930566	0.45268	-3.823	0.21149	T	0.11026185065582604	0.09299	0.091	0.13080	B	.;.;.	.;.;.	4.098068	0.61082	24.3	0.99941530789399236	0.99797	0.96294	0.68438	D	AEFBI	0.704541	0.66022	D	0.477462838738036	0.65777	4.865245	0.56648780603224	0.72554	5.82791	0.984288560987437	0.30693	0.553676	0.25195	0	0.59043	0.45803	0	0.618467	0.43123	0	0.542086	0.14980	0	.	.	5.86	5.86	0.93936	4.414000	0.59555	4.097000	0.41842	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.866000	0.41154	0.0:1.0:0.0:0.0	20.191	0.98231	897	0.25382	EGF-like domain;.;EGF-like domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.08333	1415.83	34	chr7	103561701	.	C	T	1415.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=3.26;DP=297;ExcessHet=0;FS=0.676;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.24;ReadPosRankSum=-0.188;SOR=0.603	GT:AD:DP:GQ:PL	0/1:73,53:126:99:1426,0,1774	5	0	1	0
chr7	112939695	112939695	G	C	exonic	BMT2	.	nonsynonymous SNV	BMT2:NM_152556:exon1:c.C56G:p.P19R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.021	0.022454820272	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.37e-06	2.052e-06	1.363e-06	1.377e-06	2.988e-05	2.3e-07	9e-08	.	.	2.988e-05	0	0	0	0	0	0	0	1.16e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.111	0.29029	T	0.071	0.43531	T	0.0	0.02946	B	0.0	0.01387	B	0.573257	0.11217	U	0.787148	0.994287	0.23550	N	.	.	.	.	.	.	-0.07	0.08033	N	0.106	0.09066	-1.0196	0.23845	T	0.075	0.30242	T	9	0.058901787	0.06997	T	0.022455	0.45351	T	0.021	0.04004	0.237	0.16760	0.043077524339	0.03247	0.1980681276761079	0.19723	0.822681584721	0.67246	.	.	.	0.017267	0.14114	T	-0.117744	0.33494	T	-0.406908	0.32582	T	0.0837086513638496	0.10455	T	0.407159	0.10452	T	0.06776147	0.14705	0.13338839	0.31987	0.06776147	0.14704	0.13338839	0.31986	-1.926	0.02914	T	.	.	0.063	0.01449	B	.	.	1.715552	0.21842	15.37	0.90666990623394816	0.19918	0.36001	0.25432	N	ALL	0.066794	0.13098	N	-0.817286952491799	0.12868	0.6301022	-0.81664470436992	0.14092	0.7345551	0.999999971300768	0.74766	0.266657	0.04791	1	0.484254	0.07192	0	0.239995	0.05000	1	0.492483	0.08430	1	.	.	5.04	0.973	0.18829	-0.028000	0.12299	.	.	0.586000	0.30580	0.286000	0.25196	0.888000	0.27792	0.736000	0.35301	0.1665:0.3037:0.5297:0.0	6.465	0.21176	861	0.33516	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	384.83	34	chr7	112939695	.	G	C	384.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.46;DP=183;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.83;ReadPosRankSum=2.2;SOR=0.818	GT:AD:DP:GQ:PL	0/1:12,18:30:99:395,0,264	5	0	1	0
chr7	123627256	123627256	C	T	exonic	ASB15	.	stopgain	ASB15:NM_080928:exon7:c.C844T:p.R282X,ASB15:NM_001290258:exon9:c.C844T:p.R282X	.	432	1085	4	1	0	6	0.00275735	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0005	0.00898562	0.0079	0.0007	0.0500	0.0287	0.0082	0.0004	0.0089	0.0017	0.0070762	1094	154602	rs116956332	0.0029	0.0029	0.0031	0.0027	0.0451	0.0028	0.0028	0.0435	0.0428	0.0004	0.0451	0.0002	0.0339	0.0070	0.0005	0.0002	0.0029	0.0015	0.0049	0.0049	0.0041	0.0057	0.0289	0.0046	0.0045	0.0266	0.0258	0.0006	0	0.0289	0	0.0257	0.0110	0	0.0002	0.0038	0.0012	.	.	.	.	.	.	.	.	.	.	.	.	0.004952	0.33236	N	0.139826	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.34	0.38129	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.236669	0.77349	D	0.60222	0.97155	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive;Recessive;Recessive;Recessive;Recessive	High;High;High;High;High	8.129159	0.97211	37	0.99676919507720396	0.78977	0.88769	0.48857	D	AEFI	0.410746	0.48150	N	0.589142947540737	0.72497	5.814979	0.434929938980213	0.63754	4.615722	0.00288669013316398	0.09774	0.487112	0.14033	0	0.573888	0.26702	0	0.657636	0.52715	0	0.613276	0.41899	0	.	.	5.77	3.95	0.44952	1.543000	0.35754	1.414000	0.26305	-0.189000	0.09497	0.906000	0.31575	0.999000	0.35428	0.986000	0.61781	0.5595:0.4405:0.0:0.0	14.089	0.64506	714	0.56256	Ankyrin repeat-containing domain|Ankyrin repeat-containing domain|Ankyrin repeat-containing domain|Ankyrin repeat-containing domain;Ankyrin repeat-containing domain|Ankyrin repeat-containing domain|Ankyrin repeat-containing domain|Ankyrin repeat-containing domain;Ankyrin repeat-containing domain|Ankyrin repeat-containing domain|Ankyrin repeat-containing domain|Ankyrin repeat-containing domain;Ankyrin repeat-containing domain|Ankyrin repeat-containing domain|Ankyrin repeat-containing domain;Ankyrin repeat-containing domain|Ankyrin repeat-containing domain|Ankyrin repeat-containing domain|Ankyrin repeat-containing domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.002717	0.005848	0.000000	0.000000	0.000000	0.000000	0.08333	565.83	35	chr7	123627256	.	C	T	565.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.42;DP=240;ExcessHet=0;FS=1.008;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=8.45;ReadPosRankSum=-1.563;SOR=0.95	GT:AD:DP:GQ:PL	0/1:43,24:67:99:576,0,1003	5	0	1	0
chr7	127584383	127584383	C	T	exonic	GCC1	.	nonsynonymous SNV	GCC1:NM_024523:exon1:c.G800A:p.R267K	.	420	1043	58	1	0	60	0.027959	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.039	.	0.0018	0.00638978	0.0056	0.0004	0.0016	0	0.0005	0.0026	0.0066	0.0291	0.0050517	781	154602	rs138102764	0.0034	0.0034	0.0026	0.0043	0.0279	0.0033	0.0033	0.0270	0.0266	0.0003	0.0023	0.0006	0	0.0004	0.0229	0.0019	0.0038	0.0279	0.0027	0.0027	0.0023	0.0030	0.0303	0.0024	0.0024	0.0263	0.0248	0.0006	0	0.0043	0.0009	0	0.0008	0.0102	0.0022	0.0033	0.0303	0.453	0.08917	T	0.488	0.11621	T	0.001	0.07471	B	0.003	0.08700	B	0.000667	0.42516	D	0.190780	0.999648	0.20796	N	0.485	0.13215	N	1.38	0.34050	T	0.28	0.04233	N	0.041	0.01421	-1.0614	0.11410	T	0.033	0.14247	T	10	0.0024884343	0.00037	T	.	.	.	0.039	0.10176	.	.	0.259272394797	0.25527	0.14846000036410614	0.14767	0.290926297989	0.31498	0.41342741251	0.26931	T	0.003942	0.03353	T	-0.612989	0.00121	T	-0.632343	0.10237	T	0.011415544642949	0.00170	T	0.758424	0.38228	T	0.17335048	0.38077	0.1152832	0.27828	0.17335048	0.38077	0.1152832	0.27828	-3.592	0.17742	T	.	.	0.078	0.06942	B	.	.	1.632260	0.20842	14.93	0.95869824457554875	0.28044	0.15793	0.19084	N	AEFDBCI	0.118305	0.23139	N	-0.647524857567942	0.17533	0.9029837	-0.502813967842771	0.22076	1.197333	0.999998908618464	0.74766	0.627647	0.40530	0	0.685571	0.66316	0	0.672317	0.60874	0	0.657601	0.63696	0	.	.	5.91	4.85	0.62375	1.417000	0.34378	1.721000	0.28260	0.599000	0.40250	0.036000	0.20778	0.929000	0.28499	0.989000	0.64315	0.0:0.9112:0.0:0.0888	13.206	0.59220	0	0.99858	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.014602	0.000000	0.014946	0.017544	0.000000	0.017241	0.015244	0.022727	0.08333	1369.83	42	chr7	127584383	.	C	T	1369.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.112;DP=327;ExcessHet=0;FS=3.32;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.32;ReadPosRankSum=-0.255;SOR=0.927	GT:AD:DP:GQ:PL	0/1:66,55:121:99:1380,0,1715	5	0	1	0
chr7	127598540	127598540	C	T	exonic	FSCN3	.	nonsynonymous SNV	FSCN3:NM_020369:exon4:c.C1066T:p.R356C	.	426	1072	23	1	0	25	0.011526	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.304	.	0.0005	0.00339457	0.0023	9.653e-05	0.0002	0	0	0.0004	0	0.0154	0.0020116	311	154602	rs149091891	0.0011	0.0011	0.0007	0.0015	0.0138	0.0010	0.0010	0.0131	0.0129	2.988e-05	0.0001	0	2.521e-05	1.874e-05	0.0054	0.0002	0.0013	0.0138	0.0007	0.0007	0.0003	0.0011	0.0176	0.0006	0.0005	0.0146	0.0135	9.621e-05	0	6.533e-05	0	0	0	0.0034	0.0002	0.0005	0.0176	0.0	0.91255	D	0.001	0.83351	D	1.0	0.90584	D	0.994	0.82059	D	0.000006	0.62929	D	0.000000	0.999261	0.46490	D	2.62	0.76659	M	1.38	0.34050	T	-4.87	0.81269	D	0.605	0.62273	-0.6915	0.60838	T	0.234	0.60087	T	10	0.020981848	0.00493	T	.	.	.	0.304	0.62510	.	.	0.386395597597	0.38251	0.6168742186487184	0.61619	0.134104846384	0.15106	0.377240300179	0.21864	T	0.064198	0.32372	T	-0.383752	0.02949	T	-0.311686	0.43478	T	0.138950188390139	0.16185	T	0.771723	0.40231	T	0.4420658	0.63536	0.24375392	0.49826	0.4420658	0.63536	0.24375392	0.49825	-5.092	0.37823	T	.	.	0.088	0.11893	B	.	.	3.300056	0.45293	22.1	0.99913687880934432	0.98238	0.71390	0.34992	D	ALL	0.183497	0.31082	N	0.341465775480458	0.58291	4.000429	0.276168532818719	0.54151	3.581018	0.999999999155058	0.74766	0.65861	0.49226	0	0.615948	0.52940	0	0.440796	0.06475	0	0.345915	0.05782	2	.	.	5.94	4.16	0.48138	1.757000	0.38029	1.466000	0.26718	0.599000	0.40250	1.000000	0.71638	0.999000	0.35428	0.117000	0.19042	0.0:0.8346:0.0:0.1654	9.224	0.36554	0	0.99858	Fascin domain|Fascin domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002014	0.000000	0.000000	0.000000	0.000000	0.000000	0.009146	0.003788	0.08333	763.83	33	chr7	127598540	.	C	T	763.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.451;DP=251;ExcessHet=0;FS=0.864;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=9.79;ReadPosRankSum=-0.055;SOR=0.569	GT:AD:DP:GQ:PL	0/1:43,35:78:99:774,0,1023	5	0	1	0
chr7	127615065	127615065	C	G	exonic	PAX4	.	nonsynonymous SNV	PAX4:NM_001366111:exon3:c.G175C:p.G59R,PAX4:NM_001366110:exon5:c.G175C:p.G59R	Diabetes mellitus, type 2, Autosomal dominant;Maturity-onset diabetes of the young, type IX	.	.	.	.	.	.	.	.	.	.	1581365	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.685	0.231792295361	.	0.000199681	0.0001	0	0	0.0020	0	0	0	0	0.0001164	18	154602	rs571619646	1.642e-05	1.642e-05	1.906e-05	1.375e-05	0.0006	1.111e-05	9.33e-06	0.0004	0.0003	0	0	0	0.0006	0	0	0	3.311e-05	0	3.94e-05	3.937e-05	3.855e-05	4.029e-05	0.0012	1.714e-05	1.129e-05	0.0005	0.0003	0	0	0	0	0.0012	0	0	0	0	0	0.028	0.56456	D	0.004	0.74150	D	0.992	0.64738	D	0.845	0.60432	P	0.000894	0.41231	N	0.279604	0.996915	0.43501	D	.	.	.	-5.63	0.99387	D	-5.51	0.86914	D	0.482	0.52740	1.071	0.98620	D	0.963	0.98800	D	10	0.10521129	0.19436	T	0.231792	0.88292	D	0.685	0.88490	0.628	0.76366	0.96858258482	0.96824	0.6063819022387102	0.60569	0.0990137291376	0.11188	0.638192772865	0.58306	T	0.782578	0.94274	D	-0.136992	0.30368	T	0.0270798	0.72088	D	0.315959994105012	0.25658	T	0.952205	0.81731	D	.	.	.	.	.	.	.	.	-8.814	0.66492	D	.	.	0.548	0.66704	A	.;.;.;.;.;.	.;.;.;.;.;.	3.752997	0.53807	23.4	0.99924679417317475	0.98980	0.92324	0.55449	D	AEFDBI	0.601499	0.59372	D	0.37220298986467	0.59921	4.175729	0.357232656089144	0.58944	4.06837	0.998475386310879	0.37033	0.603402	0.35316	0	0.563428	0.19063	0	0.657636	0.52715	0	0.663205	0.64265	0	.	.	5.73	3.93	0.44666	1.291000	0.32936	4.070000	0.41657	0.599000	0.40250	0.990000	0.36992	0.999000	0.35428	0.999000	0.91618	0.0:0.837:0.0:0.163	10.005	0.41125	0	0.99858	.;Paired domain|Paired domain|Paired domain|Paired domain;Paired domain|Paired domain|Paired domain|Paired domain;Paired domain|Paired domain|Paired domain|Paired domain;Paired domain|Paired domain|Paired domain|Paired domain;Paired domain|Paired domain|Paired domain|Paired domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.08333	1927.83	33	chr7	127615065	.	C	G	1927.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.646;DP=363;ExcessHet=0;FS=5.372;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.21;ReadPosRankSum=-2.259;SOR=0.931	GT:AD:DP:GQ:PL	0/1:87,85:172:99:1938,0,2235	5	0	1	0
chr7	131445777	131445777	A	G	exonic	MKLN1	.	nonsynonymous SNV	MKLN1:NM_001321316:exon12:c.A778G:p.N260D,MKLN1:NM_013255:exon12:c.A1399G:p.N467D,MKLN1:NM_001145354:exon13:c.A1330G:p.N444D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.188	0.0158621107532	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1466724898	6.271e-06	7.525e-06	6.927e-06	5.606e-06	0.0004	2.95e-06	2.14e-06	6.268e-05	2.586e-05	0	0	0	0	0	0.0004	6.353e-06	0	0	1.976e-05	1.971e-05	0	4.048e-05	4.413e-05	5.25e-06	2.46e-06	1.172e-05	6.25e-06	0	0	0	0	0	0	0	4.413e-05	0	0	0.511	0.08839	T	0.608	0.07741	T	0.514	0.37393	P	0.216	0.41929	B	0.000000	0.84330	D	0.000000	1	0.81001	D	1.15	0.29295	L	0.09	0.61443	T	-1.46	0.35792	N	0.63	0.66959	-0.9719	0.36798	T	0.137	0.45394	T	10	0.36690748	0.53173	T	0.015862	0.36823	T	0.188	0.46444	0.45	0.51121	0.44851236055	0.44475	0.6535716706465415	0.65293	1.73630748658	0.90807	0.895734012127	0.95953	D	0.021416	0.53182	T	-0.0580923	0.43205	T	-0.321222	0.42441	T	0.934405863285065	0.60186	D	0.945205	0.79148	D	0.27105653	0.50176	0.17111407	0.39269	0.27105653	0.50176	0.17111407	0.39269	-3.649	0.18568	T	.	.	0.307	0.58428	B	.;.	.;.	4.839176	0.78995	27.0	0.99605865065845822	0.74516	0.98789	0.86875	D	AEFGBI	0.893179	0.83086	D	0.0906039314389284	0.46025	2.849387	0.249661564367499	0.52631	3.436599	0.99999999996735	0.74766	0.732398	0.92422	0	0.708844	0.79440	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	5.14	5.14	0.70008	9.239000	0.94505	11.134000	0.86880	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	1.0:0.0:0.0:0.0	14.133	0.64798	875	0.30485	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	781.83	38	chr7	131445777	.	A	G	781.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.259;DP=256;ExcessHet=0;FS=7.093;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.22;ReadPosRankSum=0.965;SOR=0.208	GT:AD:DP:GQ:PL	0/1:29,35:64:99:792,0,778	5	0	1	0
chr7	134947563	134947563	G	A	exonic	CALD1	.	nonsynonymous SNV	CALD1:NM_033140:exon5:c.G805A:p.V269M,CALD1:NM_033139:exon6:c.G883A:p.V295M,CALD1:NM_004342:exon7:c.G823A:p.V275M,CALD1:NM_033138:exon8:c.G1588A:p.V530M,CALD1:NM_033157:exon8:c.G901A:p.V301M	.	420	1096	6	0	0	6	0.00272975	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.165	.	0.0067	0.00359425	0.0124	0.0016	0.0063	0	0.0275	0.0228	0	0.0048	0.0058279	901	154602	rs35067327	0.0099	0.0098	0.0099	0.0098	0.0115	0.0097	0.0097	0.0113	0.0112	0.0014	0.0024	0.0055	0	0.0083	0.0030	0.0115	0.0074	0.0042	0.0067	0.0067	0.0072	0.0062	0.0117	0.0063	0.0062	0.0110	0.0108	0.0016	0.0088	0.0016	0.0075	0	0.0071	0	0.0117	0.0038	0.0029	0.042	0.54683	D	0.138	0.41074	T	0.514	0.61523	P	0.452	0.64260	P	0.018803	0.27398	N	0.169689	0.985209	0.24732	N	2.32	0.66415	M	0.65	0.52642	T	-0.51	0.23156	N	0.29	0.46368	-0.8706	0.50484	T	0.181	0.52889	T	10	0.008723199	0.00198	T	.	.	.	0.165	0.42395	.	.	0.524636165829	0.52109	0.012877679915604491	0.01245	0.146789417381	0.16567	0.558288216591	0.47026	T	0.116245	0.62507	T	-0.43735	0.01340	T	-0.387373	0.34861	T	0.051932320686832	0.05836	T	0.963754	0.87984	D	0.0527335	0.09877	0.07530616	0.16567	0.0527335	0.09876	0.07530616	0.16566	-4.949	0.38117	T	.	.	0.156	0.40392	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	3.798384	0.54714	23.5	0.95788504027778065	0.27823	0.76453	0.37497	D	AEFDBI	0.415837	0.48454	N	-0.118425637966304	0.36591	2.117086	-0.222554232845467	0.30729	1.73274	0.99991753074218	0.45857	0.706548	0.73137	0	0.59043	0.45803	0	0.643519	0.47002	0	0.714379	0.83352	0	.	.	4.94	4.06	0.46572	2.469000	0.44768	10.635000	0.83508	0.590000	0.31872	1.000000	0.71638	1.000000	0.68203	0.065000	0.16320	0.0854:0.153:0.7616:0.0	8.680	0.33367	846	0.36215	.;.;.;.;.;.;.;.	.	.	.	.	rs35067327	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.005285	0.000000	0.005556	0.003546	0.000000	0.000000	0.009494	0.011538	0.08333	457.83	33	chr7	134947563	.	G	A	457.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.951;DP=183;ExcessHet=0;FS=6.291;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.31;ReadPosRankSum=1.08;SOR=0.113	GT:AD:DP:GQ:PL	0/1:14,18:32:99:468,0,427	5	0	1	0
chr7	135034651	135034651	C	T	exonic	AGBL3	.	nonsynonymous SNV	AGBL3:NM_178563:exon7:c.C1060T:p.R354W	.	434	1087	1	0	0	1	0.00045977	.	.	.	2332014	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.269	0.0234119015888	.	.	.	.	.	.	.	.	.	.	.	.	.	rs975006265	2.43e-05	2.326e-05	2.538e-05	2.318e-05	0.0002	1.749e-05	1.543e-05	1.886e-05	1.63e-05	3.165e-05	0	0	0	0	0.0002	2.688e-05	5.172e-05	0	3.287e-05	3.284e-05	5.141e-05	1.346e-05	7.245e-05	1.261e-05	7.98e-06	1.921e-05	1.032e-05	7.245e-05	0	0	0	0	0	0	2.941e-05	0	0	0.0	0.91255	D	0.001	0.83351	D	1.0	0.90584	D	0.982	0.75477	D	0.000004	0.62929	D	0.062511	0.549188	0.31349	N	3.275	0.90144	M	2.68	0.12371	T	-5.17	0.83489	D	0.488	0.52208	-0.7710	0.56803	T	0.110	0.39580	T	10	0.3454477	0.51518	T	0.023412	0.46369	T	0.269	0.58381	0.537	0.64730	0.198526703765	0.19489	0.870581085049	0.87024	.	.	0.45733448863	0.32945	T	.	.	.	-0.0663073	0.41914	T	-0.0963537	0.63680	T	0.88723486661911	0.53772	D	0.921708	0.71584	D	.	.	.	.	.	.	.	.	-11.496	0.82309	D	.	.	0.379	0.58352	A	.;.	.;.	4.356468	0.66959	25.0	0.99904461440484249	0.97576	0.81419	0.40826	D	AEFI	0.364576	0.45307	N	0.417417458289579	0.62378	4.45295	0.27555452054342	0.54116	3.577609	0.366030483351984	0.19823	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.39	3.53	0.39533	1.856000	0.39028	0.772000	0.21405	0.596000	0.33519	0.796000	0.29669	0.936000	0.28664	0.964000	0.52637	0.4647:0.5353:0.0:0.0	11.530	0.49856	803	0.44167	.;Peptidase M14, carboxypeptidase A	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1732.83	33	chr7	135034651	.	C	T	1732.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.62;DP=304;ExcessHet=0;FS=0.64;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.13;ReadPosRankSum=-0.38;SOR=0.631	GT:AD:DP:GQ:PL	0/1:65,67:132:99:1743,0,1527	5	0	1	0
chr7	139080057	139080057	C	T	exonic	ZC3HAV1	.	nonsynonymous SNV	ZC3HAV1:NM_001363491:exon4:c.G884A:p.R295H,ZC3HAV1:NM_020119:exon4:c.G884A:p.R295H,ZC3HAV1:NM_024625:exon4:c.G884A:p.R295H	.	425	1096	1	0	0	1	0.000455996	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.024	0.00216074322508	0.0046	0.00179712	0.0026	0.0010	0.0022	0	0.0005	0.0040	0	0.0004	0.0029236	452	154602	rs138485120	0.0049	0.0049	0.0052	0.0046	0.0059	0.0048	0.0048	0.0057	0.0057	0.0008	0.0037	0.0013	2.519e-05	0.0005	0.0003	0.0059	0.0059	0.0003	0.0032	0.0032	0.0033	0.0030	0.0051	0.0029	0.0028	0.0047	0.0045	0.0012	0	0.0050	0.0009	0	0.0002	0	0.0051	0.0024	0.0002	1.0	0.00964	T	0.925	0.04492	T	0.0	0.02946	B	0.0	0.01387	B	0.941431	0.08351	N	0.971401	1	0.08975	N	-0.975	0.01213	N	1.48	0.31731	T	0.83	0.01787	N	0.016	0.00485	-0.9971	0.30728	T	0.020	0.08266	T	10	0.0058557093	0.00131	T	0.002161	0.04043	T	0.024	0.04979	.	.	0.0138822411134	0.00435	0.17947201192858023	0.17866	0.349746417612	0.36819	0.255286157131	0.04346	T	3.76E-4	0.01461	T	-0.689858	0.00042	T	-0.760681	0.03088	T	0.000426794268518085	0.00003	T	0.266473	0.04381	T	0.0146249235	0.00101	0.020581229	0.00143	0.0146249235	0.00101	0.020581229	0.00143	-4.709	0.33513	T	.	.	0.064	0.05317	B	.;.;.	.;.;.	-0.084376	0.03735	0.771	0.26267169693701076	0.01250	0.00485	0.02305	N	AEFBCI	0.011154	0.00093	N	-1.40222623849382	0.02619	0.115914	-1.34620884646232	0.03851	0.1804661	0.00424872237310791	0.10472	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.41	2.0	0.25495	-0.055000	0.11763	-0.748000	0.07590	-0.114000	0.14653	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.2051:0.0:0.7949	6.232	0.19953	443	0.79878	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.08333	1949.83	34	chr7	139080057	.	C	T	1949.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.983;DP=359;ExcessHet=0;FS=4.392;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.02;ReadPosRankSum=1.49;SOR=0.975	GT:AD:DP:GQ:PL	0/1:98,79:177:99:1960,0,2457	5	0	1	0
chr7	142940391	142940391	C	T	exonic	LLCFC1	.	nonsynonymous SNV	LLCFC1:NM_001382496:exon2:c.C173T:p.S58F	.	425	1078	18	1	0	20	0.00919118	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.162	0.00688694491776	0.0021	0.000399361	0.0018	0.0006	0.0013	0	0.0014	0.0026	0	0.0010	0.0019405	300	154602	rs143475597	0.0029	0.0029	0.0028	0.0029	0.0054	0.0028	0.0028	0.0039	0.0034	0.0004	0.0009	0.0004	0	0.0012	0.0054	0.0034	0.0028	0.0011	0.0021	0.0021	0.0023	0.0020	0.0035	0.0019	0.0019	0.0032	0.0030	0.0006	0	0.0022	0.0003	0	0.0015	0.0034	0.0035	0.0019	0.0010	0.0	0.91255	D	0.003	0.76473	D	.	.	.	.	.	.	0.004720	0.33466	N	0.139105	0.70857	0.33495	D	.	.	.	.	.	.	-5.91	0.88904	D	0.374	0.41557	-0.3731	0.72866	T	0.256	0.62665	T	9	0.01358062	0.00288	T	0.006887	0.18233	T	0.162	0.41843	.	.	0.183819452728	0.17975	0.21092932366345982	0.21008	0.185773801594	0.20887	.	.	.	.	.	.	-0.326534	0.06376	T	-0.241964	0.50606	T	0.0327464138630547	0.02429	T	.	.	.	.	.	.	.	.	.	.	.	-4.499	0.30876	T	.	.	0.623	0.69832	P	.	.	3.954746	0.57957	23.9	0.99783856998318676	0.87043	0.69069	0.34043	D	AEFDBCI	0.298094	0.40750	N	0.4490503240225	0.64149	4.663066	0.393618273009087	0.61171	4.313518	0.99995486208824	0.48110	0.487112	0.14033	0	0.563428	0.19063	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	4.38	4.38	0.52019	2.406000	0.44210	.	.	0.599000	0.40250	0.986000	0.36153	1.000000	0.68203	0.923000	0.45890	0.0:1.0:0.0:0.0	12.634	0.56035	683	0.59664	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.008056	0.000000	0.013587	0.005848	0.000000	0.000000	0.012195	0.003788	0.08333	2144.83	36	chr7	142940391	.	C	T	2144.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.468;DP=340;ExcessHet=0;FS=5.92;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.08;ReadPosRankSum=-0.198;SOR=1.133	GT:AD:DP:GQ:PL	0/1:79,85:164:99:2155,0,1984	5	0	1	0
chr7	152229940	152229940	A	G	exonic	KMT2C	.	nonsynonymous SNV	KMT2C:NM_170606:exon18:c.T2959C:p.Y987H	.	526	320	669	7	0	683	0.516251	.	.	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	0.432	.	.	.	0.4728	0.4914	0.4863	0.4887	0.4732	0.4636	0.4765	0.4809	0.0018057	47	26028	rs77735469	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	.	.	.	1.0	0.90584	D	0.999	0.92359	D	0.001979	0.37549	U	0.000000	0.971252	0.38857	D	2.22	0.62911	M	-2.28	0.87512	D	-4.01	0.75456	D	0.934	0.93959	0.656	0.92620	D	0.754	0.91609	D	10	0.012159407	0.00262	T	.	.	.	0.815	0.94046	.	.	.	.	0.5529033843776924	0.55216	2.65390431601	0.98462	0.900072455406	0.96449	D	0.576893	0.86083	D	0.315486	0.84148	D	0.215397	0.83941	D	0.0127532117779022	0.00216	T	0.984602	0.94707	D	0.6018943	0.72793	0.5814447	0.75738	0.6018943	0.72794	0.5814447	0.75739	-9.256	0.69330	D	0.6635921527459159	0.73748	0.854	0.79986	P	.;.	.;.	4.408107	0.68175	25.2	0.99273378386417865	0.57627	0.99067	0.90742	D	AEFBI	0.864295	0.78306	D	0.740431229350387	0.82279	7.723933	0.698705506977523	0.82280	7.728171	0.999787248307013	0.43007	0.651	0.46895	0	0.708844	0.79440	0	0.602189	0.34648	0	0.683762	0.67416	0	.	.	4.67	4.67	0.58089	9.318000	0.95450	11.148000	0.87267	0.689000	0.82905	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	1.0:0.0:0.0:0.0	14.405	0.66648	929	0.16858	Zinc finger, PHD-finger|Zinc finger, RING-type|Zinc finger, PHD-type;Zinc finger, PHD-finger|Zinc finger, RING-type|Zinc finger, PHD-type	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.454123	0.322785	0.464481	0.464912	0.428571	0.473214	0.474638	0.463115	0.5	3604.55	165	chr7	152229940	.	A	G	3604.55	.	AC=6;AF=0.5;AN=12;BaseQRankSum=-0.209;DP=1278;ExcessHet=11.5949;FS=0;MLEAC=6;MLEAF=0.5;MQ=44.77;MQRankSum=0.622;QD=2.86;ReadPosRankSum=0.458;SOR=0.725	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:183,26:209:87:.:.:87,0,6535:.	0	0	6	0
chr8	246121	246121	G	T	exonic	ZNF596	.	nonsynonymous SNV	ZNF596:NM_001042415:exon6:c.G1274T:p.G425V,ZNF596:NM_001042416:exon6:c.G1274T:p.G425V,ZNF596:NM_001287254:exon6:c.G1274T:p.G425V,ZNF596:NM_001287255:exon6:c.G1274T:p.G425V,ZNF596:NM_001287256:exon6:c.G1274T:p.G425V,ZNF596:NM_001287399:exon6:c.G875T:p.G292V,ZNF596:NM_173539:exon6:c.G1274T:p.G425V	.	406	1115	1	0	0	1	0.000448229	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.205	.	0.0048	0.00359425	0.0049	0.0014	0.0059	0	0.0008	0.0074	0.0044	0.0005	0.0052263	808	154602	rs117305688	0.0080	0.0080	0.0084	0.0077	0.0097	0.0079	0.0079	0.0096	0.0095	0.0013	0.0073	0.0028	2.52e-05	0.0008	0.0014	0.0097	0.0066	0.0005	0.0052	0.0052	0.0055	0.0049	0.0101	0.0049	0.0048	0.0088	0.0083	0.0012	0.0285	0.0101	0.0032	0	0.0008	0	0.0077	0.0076	0.0012	0.001	0.78490	D	0.0	0.92824	D	0.996	0.68779	D	0.925	0.65999	D	.	.	.	.	0.997658	0.44071	D	3.75	0.95014	H	5.44	0.00979	T	-8.09	0.96664	D	0.384	0.42541	-1.1263	0.01967	T	0.016	0.06377	T	9	0.01144582	0.00250	T	.	.	.	0.205	0.49236	.	.	0.575080649919	0.57175	0.07640030832795322	0.07576	0.00501952263468	0.00445	0.521692693233	0.41864	T	0.196272	0.55260	T	-0.40848	0.02035	T	-0.349142	0.39302	T	0.0703050603760631	0.08693	T	0.666133	0.27528	T	0.72208697	0.79277	0.63395107	0.78636	0.72208697	0.79279	0.63395107	0.78637	-8.36	0.63498	D	.	.	0.948	0.86668	P	.;.;.	.;.;.	2.986135	0.39851	21.0	0.9940163902146214	0.62841	0.00398	0.01994	N	AEFDGBHCI	0.272627	0.38821	N	0.457759296229387	0.64645	4.723751	0.197590625957046	0.49716	3.171433	0.256564127472771	0.18741	0.615465	0.37627	0	0.486142	0.07564	0	0.573888	0.23631	0	0.655142	0.61905	0	.	.	2.72	2.72	0.31179	1.845000	0.38920	3.425000	0.38278	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.009000	0.08673	0.0:0.0:1.0:0.0	11.662	0.50611	988	0.01987	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.002717	0.000000	0.000000	0.000000	0.000000	0.000000	0.08333	1002.83	33	chr8	246121	.	G	T	1002.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.293;DP=318;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.02;ReadPosRankSum=-1.494;SOR=0.738	GT:AD:DP:GQ:PL	0/1:37,40:77:99:1013,0,1014	5	0	1	0
chr8	432894	432894	C	T	exonic	FBXO25	.	nonsynonymous SNV	FBXO25:NM_183420:exon4:c.C247T:p.R83C,FBXO25:NM_183421:exon4:c.C247T:p.R83C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.175	0.0234706261596	0.0004	0.000599042	0.0004	0.0003	0	0	0	0.0006	0	0.0007	0.0003428	53	154602	rs142717048	0.0007	0.0007	0.0008	0.0007	0.0008	0.0007	0.0007	0.0008	0.0008	0.0002	3.162e-05	0	0	0	0	0.0008	0.0009	0.0005	0.0004	0.0004	0.0004	0.0004	0.0012	0.0003	0.0003	0.0005	0.0005	0.0001	0	0.0001	0	0	9.466e-05	0	0.0007	0	0.0012	0.021	0.63226	D	0.009	0.66756	D	0.992	0.64738	D	0.785	0.57495	P	0.000487	0.43931	D	0.227432	0.999989	0.81001	D	1.67	0.42885	L	1.96	0.22270	T	-0.02	0.07299	N	0.739	0.76019	-1.1131	0.02817	T	0.082	0.32411	T	10	0.04588279	0.03712	T	0.023471	0.46432	T	0.175	0.44197	.	.	0.33340067248	0.32956	0.35989669025029764	0.35903	.	.	0.530263900757	0.43072	T	0.036501	0.24126	T	-0.312348	0.07543	T	-0.337012	0.40683	T	0.133730471134186	0.15722	T	0.955304	0.83579	D	0.16131417	0.36132	0.10518181	0.25280	0.16131417	0.36131	0.10518181	0.25279	-3.889	0.22438	T	.	.	0.144	0.31683	B	.;.;.	.;.;.	5.651172	0.92809	33	0.99886391900440363	0.96126	0.77564	0.38151	D	AEFI	0.581966	0.58178	D	0.421495752254928	0.62605	4.479205	0.412699401481712	0.62356	4.449553	0.00168053167892084	0.08770	0.706298	0.61202	0	0.709663	0.81188	0	0.65145	0.50148	0	0.669	0.65921	0	.	.	4.36	4.36	0.51643	3.291000	0.51470	7.606000	0.61733	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:1.0:0.0:0.0	14.775	0.69335	940	0.13648	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000616	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.004310	0.08333	147.83	15	chr8	432894	.	C	T	147.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.89;DP=95;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=57.75;MQRankSum=-0.624;QD=7.39;ReadPosRankSum=0.991;SOR=0.787	GT:AD:DP:GQ:PL	0/1:13,7:20:99:158,0,277	5	0	1	0
chr8	1928541	1928541	G	A	exonic	ARHGEF10	.	nonsynonymous SNV	ARHGEF10:NM_001308152:exon23:c.G2698A:p.V900I,ARHGEF10:NM_014629:exon24:c.G2812A:p.V938I,ARHGEF10:NM_001308153:exon25:c.G2884A:p.V962I	.	0	1510	12	0	0	12	0.00395778	.	.	.	512833	Autosomal_dominant_slowed_nerve_conduction_velocity|not_provided|not_specified	MONDO:MONDO:0011998,MedGen:C1842357,OMIM:608236,Orphanet:140481|MedGen:C3661900|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.137	.	0.0080	0.00299521	0.0055	0.0014	0.0050	0	0.0024	0.0082	0.0044	0.0018	0.006009	929	154602	rs61752020	0.0095	0.0095	0.0097	0.0092	0.0116	0.0093	0.0093	0.0114	0.0113	0.0016	0.0042	7.652e-05	0	0.0021	0.0029	0.0116	0.0071	0.0021	0.0060	0.0060	0.0063	0.0057	0.0107	0.0057	0.0055	0.0101	0.0098	0.0021	0	0.0037	0	0.0002	0.0019	0.0034	0.0107	0.0057	0.0015	1.0	0.00964	T	1.0	0.02434	T	0.021	0.18474	B	0.048	0.24975	B	0.029414	0.25458	N	0.444896	1	0.08975	N	-0.495	0.02627	N	-0.15	0.65192	T	-0.03	0.08033	N	0.124	0.17691	-0.9950	0.31299	T	0.048	0.20315	T	10	0.0046761036	0.00098	T	.	.	.	0.137	0.36984	.	.	0.136095386433	0.13204	0.15839481021490168	0.15760	0.0316564953664	0.03281	0.283190727234	0.07941	T	0.038889	0.24998	T	-0.584988	0.00180	T	-0.600747	0.12748	T	0.0011307726358451	0.00011	T	.	.	.	0.013005088	0.00047	0.026686532	0.00771	0.01587026	0.00162	0.025918612	0.00656	-4.673	0.33513	T	.	.	0.063	0.02609	B	.;.;.;.;.	.;.;.;.;.	-0.406263	0.02190	0.216	0.50895661031252371	0.04465	0.34334	0.25043	N	AEFDBI	0.032274	0.03612	N	-1.74925982601287	0.00682	0.02941038	-1.72307545726633	0.01039	0.04662018	0.999975723687318	0.50053	0.706548	0.73137	0	0.588015	0.36545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.54	-8.29	0.00884	1.051000	0.30027	-1.804000	0.04695	-0.560000	0.04857	0.999000	0.42656	0.000000	0.08366	0.025000	0.12405	0.4282:0.0:0.5718:0.0	16.213	0.82004	964	0.07719	.;.;.;.;.	CLN8	Esophagus_Mucosa	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.003021	0.000000	0.000000	0.005848	0.000000	0.008621	0.000000	0.007576	0.08333	1179.83	35	chr8	1928541	.	G	A	1179.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.01;DP=283;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.26;ReadPosRankSum=-0.956;SOR=0.735	GT:AD:DP:GQ:PL	0/1:44,45:89:99:1190,0,976	5	0	1	0
chr8	2003013	2003013	C	G	exonic	KBTBD11	.	nonsynonymous SNV	KBTBD11:NM_014867:exon2:c.C1821G:p.F607L	.	440	1075	4	1	2	8	0.00278293	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.459	0.638155765716	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.855e-07	2.052e-06	0	1.851e-06	.	0	0	.	.	0	0	0	0	0	0	0	2.192e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.021	0.49117	D	0.033	0.53072	D	1.0	0.90584	D	0.998	0.88582	D	0.000000	0.84330	D	0.000000	0.609536	0.30872	N	1.645	0.42016	L	-1.54	0.81640	D	-4.53	0.78388	D	0.567	0.59053	-0.0060	0.82132	T	0.555	0.83757	D	10	0.819705	0.81183	D	0.638156	0.96909	D	0.459	0.75687	0.235	0.16457	0.892755373579	0.89169	0.7410751096181228	0.74053	1.77695890874	0.91349	0.827225208282	0.86138	D	0.119411	0.44091	T	0.113174	0.65678	D	-0.0752105	0.65251	T	0.969058334827423	0.68456	D	.	.	.	0.4101862	0.61431	0.3657635	0.61919	0.4101862	0.61432	0.3657635	0.61919	-5.798	0.44557	T	.	.	0.959	0.87935	P	.	.	1.748856	0.22250	15.54	0.99460639628473835	0.65788	0.76867	0.37735	D	AEFDBCI	0.397468	0.47353	N	-0.200001956555768	0.33134	1.876439	-0.426963067754129	0.24210	1.324453	0.999994975040397	0.74766	0.764865	0.99124	0	0.547309	0.14657	0	0.731555	0.93304	0	0.63947	0.58350	0	.	.	4.76	-1.63	0.07900	-0.025000	0.12361	-1.721000	0.04849	0.578000	0.29377	0.934000	0.32416	0.000000	0.08366	0.007000	0.07825	0.0:0.308:0.0:0.692	12.747	0.56660	964	0.07719	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	105.83	34	chr8	2003013	.	C	G	105.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.047;DP=115;ExcessHet=0;FS=1.721;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=4.23;ReadPosRankSum=-0.667;SOR=0.803	GT:AD:DP:GQ:PL	0/1:18,7:25:99:116,0,406	5	0	1	0
chr8	3187965	3187965	T	A	exonic	CSMD1	.	nonsynonymous SNV	CSMD1:NM_033225:exon36:c.A5524T:p.I1842F	.	.	.	.	.	.	.	.	0.0291	0.296	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.093	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.001	0.83351	D	0.995	0.67487	D	0.99	0.78936	D	0.000027	0.55875	D	0.068565	1	0.81001	D	.	.	.	2.12	0.19726	T	-3.38	0.66780	D	0.876	0.91852	-1.1070	0.03340	T	0.099	0.36932	T	10	0.7300048	0.74233	D	0.007621	0.20219	T	0.180	0.45073	0.744	0.87570	0.246773566709	0.24272	0.6738327182317176	0.67321	.	.	0.656003236771	0.60839	T	0.01905	0.17490	T	-0.0535442	0.43909	T	-0.314689	0.43153	T	0.96508401632309	0.67157	D	0.944805	0.79065	D	0.29645294	0.52585	0.2998911	0.56023	0.29645294	0.52585	0.2998911	0.56022	-7.687	0.58917	D	.	.	0.757	0.75360	P	.;.;.;.;.;.	.;.;.;.;.;.	3.678281	0.52339	23.2	0.98856296556499956	0.47390	0.97659	0.76220	D	AEFBI	0.789548	0.71870	D	0.293107741124996	0.55800	3.743967	0.250550898314702	0.52680	3.441292	0.400415534629407	0.20125	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	5.13	3.83	0.43287	4.897000	0.62918	3.333000	0.37643	0.654000	0.53741	1.000000	0.71638	1.000000	0.68203	0.512000	0.29290	0.0:0.0818:0.0:0.9182	10.759	0.45453	934	0.15400	CUB domain|CUB domain|CUB domain|CUB domain;CUB domain|CUB domain|CUB domain|CUB domain;CUB domain|CUB domain|CUB domain|CUB domain;CUB domain|CUB domain|CUB domain|CUB domain;CUB domain|CUB domain|CUB domain|CUB domain;CUB domain|CUB domain|CUB domain|CUB domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1238.83	35	chr8	3187965	.	T	A	1238.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.11;DP=282;ExcessHet=0;FS=4.045;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.15;ReadPosRankSum=0.312;SOR=1.188	GT:AD:DP:GQ:PL	0/1:53,49:102:99:1249,0,1233	5	0	1	0
chr8	3359292	3359292	C	T	exonic	CSMD1	.	nonsynonymous SNV	CSMD1:NM_033225:exon21:c.G3164A:p.R1055Q	.	433	1086	3	0	0	3	0.00137931	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.247	0.0383411729481	.	.	3.315e-05	0	0	0.0001	0	4.506e-05	0	0	2.59e-05	4	154602	rs754510346	6.978e-05	6.977e-05	6.943e-05	7.014e-05	8.454e-05	5.847e-05	5.458e-05	7.048e-05	6.541e-05	2.987e-05	0	0	2.519e-05	3.745e-05	0	8.454e-05	1.657e-05	3.478e-05	1.316e-05	1.97e-05	1.286e-05	1.347e-05	2.941e-05	2.19e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.941e-05	0	0	0.322	0.14256	T	0.364	0.16815	T	1.0	0.90584	D	0.993	0.81110	D	0.000001	0.62929	D	0.000000	0.957732	0.43861	D	.	.	.	-0.03	0.63077	T	-0.85	0.23156	N	0.62	0.66959	-0.7082	0.60041	T	0.273	0.64474	T	10	0.380939	0.54188	T	0.038341	0.58162	D	0.247	0.55478	0.791	0.91291	0.546044812627	0.54260	0.5372747888466629	0.53652	.	.	0.605168402195	0.53634	T	0.014553	0.12369	T	-0.266311	0.12170	T	-0.394612	0.34011	T	0.299316174706977	0.24975	T	0.909009	0.67793	D	0.19890067	0.41809	0.14395323	0.34193	0.19890067	0.41809	0.14395323	0.34192	-7.892	0.60332	D	.	.	0.094	0.14431	B	.;.;.;.;.;.	.;.;.;.;.;.	4.346271	0.66720	25.0	0.99919419725383885	0.98654	0.86311	0.45566	D	AEFBI	0.308361	0.41497	N	0.131322444879939	0.47929	3.01179	0.126110888433103	0.45890	2.844172	6.0510090525913E-4	0.07437	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	5.24	4.36	0.51643	2.416000	0.44298	1.723000	0.28273	0.597000	0.34315	0.973000	0.34540	0.915000	0.28207	0.835000	0.39381	0.0:0.9264:0.0:0.0736	14.013	0.64023	964	0.07719	Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain;Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain;Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain;Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain;Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain;Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1664.83	33	chr8	3359292	.	C	T	1664.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.177;DP=301;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.11;ReadPosRankSum=2.11;SOR=0.743	GT:AD:DP:GQ:PL	0/1:55,72:127:99:1675,0,1195	5	0	1	0
chr8	7976907	7976907	G	A	exonic	USP17L3	.	nonsynonymous SNV	USP17L3:NM_001256871:exon1:c.C1079T:p.T360I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs906769079	0.0004	0.0035	0.0003	0.0006	0.0018	0.0004	0.0003	0.0010	0.0008	4.814e-05	0	0	0.0018	0	0	0.0004	0.0008	0.0009	0	0.0001	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	0.07	0.43721	T	.	.	.	.	.	.	.	.	.	.	.	.	.	2.255	0.64187	M	.	.	.	.	.	.	0.087	0.06454	.	.	.	.	.	.	.	0.014506668	0.00305	T	.	.	.	.	.	.	.	0.0762999501168	0.06990	0.011766013158553934	0.01136	.	.	0.512685418129	0.40597	T	0.021512	0.16737	T	-0.0518595	0.44165	T	-0.312269	0.43416	T	.	.	.	0.150185	0.01264	T	0.106639884	0.25216	0.22582935	0.47541	0.106639884	0.25216	0.22582935	0.47540	-8.992	0.67646	D	.	.	0.147	0.32420	B	.	.	1.730117	0.22019	15.45	0.66203521282350297	0.07990	0.06499	0.12509	N	AEFI	.	.	.	.	.	.	.	.	.	1.11964626091324E-6	0.01202	0.061011	0.01085	0	0.063388	0.01293	0	0.063197	0.01477	0	0.057018	0.00518	0	0.0823262	0.18828	0.432	0.432	0.15742	-0.381000	0.07475	0.678000	0.20656	-0.330000	0.05784	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	.	.	.	988	0.01987	Peptidase C19, ubiquitin carboxyl-terminal hydrolase|Ubiquitin specific protease domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3333	37.62	.	chr8	7976907	.	G	A	37.62	.	AC=2;AF=0.333;AN=6;DP=74;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.333;MQ=45;QD=18.81;SOR=0.693	GT:AD:DP:GQ:PL	1/1:0,2:2:6:49,6,0	2	1	0	3
chr8	17962121	17962121	A	G	exonic	PCM1	.	nonsynonymous SNV	PCM1:NM_001352647:exon15:c.A2410G:p.S804G,PCM1:NM_001352652:exon15:c.A2410G:p.S804G,PCM1:NM_001315507:exon16:c.A2410G:p.S804G,PCM1:NM_001315508:exon16:c.A2413G:p.S805G,PCM1:NM_001352634:exon16:c.A2410G:p.S804G,PCM1:NM_001352639:exon16:c.A2410G:p.S804G,PCM1:NM_001352640:exon16:c.A2413G:p.S805G,PCM1:NM_001352641:exon16:c.A2410G:p.S804G,PCM1:NM_001352644:exon16:c.A2410G:p.S804G,PCM1:NM_001352646:exon16:c.A2410G:p.S804G,PCM1:NM_001352649:exon16:c.A2413G:p.S805G,PCM1:NM_001352651:exon16:c.A2527G:p.S843G,PCM1:NM_001352654:exon16:c.A2410G:p.S804G,PCM1:NM_001352658:exon16:c.A2410G:p.S804G,PCM1:NM_006197:exon16:c.A2410G:p.S804G,PCM1:NM_001352632:exon17:c.A2527G:p.S843G,PCM1:NM_001352636:exon17:c.A2530G:p.S844G,PCM1:NM_001352637:exon17:c.A2527G:p.S843G,PCM1:NM_001352643:exon17:c.A2527G:p.S843G,PCM1:NM_001352655:exon17:c.A2410G:p.S804G,PCM1:NM_001352635:exon18:c.A2413G:p.S805G,PCM1:NM_001352638:exon18:c.A2527G:p.S843G,PCM1:NM_001352642:exon18:c.A2410G:p.S804G,PCM1:NM_001352645:exon18:c.A2410G:p.S804G,PCM1:NM_001352648:exon18:c.A2413G:p.S805G,PCM1:NM_001352653:exon18:c.A2410G:p.S804G,PCM1:NM_001352656:exon18:c.A2410G:p.S804G,PCM1:NM_001352657:exon18:c.A2410G:p.S804G,PCM1:NM_001352633:exon19:c.A2527G:p.S843G,PCM1:NM_001352650:exon19:c.A2527G:p.S843G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.051	0.00349419692468	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.177	0.25055	T	0.344	0.20745	T	.	.	.	.	.	.	0.123959	0.18899	N	0.615544	1	0.08975	N	.	.	.	3.45	0.33842	T	-1.73	0.41046	N	0.062	0.17278	-1.0570	0.12517	T	0.050	0.21339	T	10	0.070652425	0.10307	T	0.003494	0.07908	T	0.051	0.14325	0.122	0.02867	0.26169431596	0.25797	0.08217163870324999	0.08152	.	.	0.298138737679	0.10125	T	.	.	.	-0.277765	0.10906	T	-0.636767	0.09908	T	0.0455819948381863	0.04708	T	0.681032	0.28992	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.063	0.01387	B	.;.;.;.	.;.;.;.	1.540773	0.19760	14.42	0.97461291883773926	0.34084	0.17449	0.19842	N	AEFDBIJ	0.053138	0.09549	N	-0.743915300584118	0.14800	0.740288	-0.715691337405069	0.16571	0.8771971	0.982556384511255	0.30417	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.31	-0.183	0.12631	1.276000	0.32760	2.164000	0.31003	0.756000	0.94297	0.085000	0.22462	0.001000	0.17328	0.769000	0.36481	0.4603:0.279:0.2607:0.0	4.971	0.13465	895	0.25842	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	1319.83	49	chr8	17962121	.	A	G	1319.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.112;DP=318;ExcessHet=0;FS=1.548;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.11;ReadPosRankSum=-1.581;SOR=0.583	GT:AD:DP:GQ:PL	0/1:48,61:109:99:1330,0,1151	5	0	1	0
chr8	22121201	22121201	G	A	exonic	HR	.	nonsynonymous SNV	HR:NM_005144:exon10:c.C2231T:p.A744V,HR:NM_018411:exon10:c.C2231T:p.A744V	Alopecia universalis, Autosomal recessive;Atrichia with papular lesions, Autosomal recessive;Hypotrichosis 4, Autosomal dominant	0	1521	1	0	0	1	0.000328623	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.176	0.0402640757816	.	.	1.663e-05	0.0002	0	0	0	0	0	0	1.29e-05	2	154602	rs754908515	1.163e-05	1.163e-05	1.225e-05	1.1e-05	0.0003	7.09e-06	5.79e-06	0.0002	0.0001	0.0003	0	0	0	0	0.0002	8.993e-07	4.967e-05	1.159e-05	3.284e-05	3.283e-05	3.853e-05	2.689e-05	0.0001	1.26e-05	7.98e-06	4.735e-05	3.051e-05	0.0001	0	0	0	0	0	0	0	0	0	0.03	0.45393	D	0.016	0.60972	D	0.935	0.61523	P	0.575	0.56253	P	0.052489	0.22889	N	0.367330	0.99999	0.08975	N	2.19	0.61577	M	-0.86	0.74477	T	-0.43	0.14390	N	0.307	0.36779	-0.6438	0.62983	T	0.353	0.71650	T	10	0.2084634	0.37176	T	0.040264	0.59280	D	0.176	0.44373	.	.	0.831611669049	0.83001	0.4075834966050131	0.40674	0.242101679886	0.26724	0.381248891354	0.22433	T	0.050483	0.28609	T	-0.224697	0.17356	T	-0.32387	0.42148	T	0.34761843085289	0.26925	T	0.857114	0.54640	D	0.042235337	0.06368	0.071863666	0.15436	0.042235337	0.06367	0.071863666	0.15436	-4.474	0.30744	T	.	.	0.087	0.12371	B	.;.	.;.	4.015452	0.59269	24.1	0.99922548168545999	0.98852	0.76598	0.37580	D	AEFDBI	0.231163	0.35443	N	0.243639420384801	0.53324	3.501897	0.229139680243535	0.51472	3.329322	0.999998215145229	0.74766	0.497415	0.19182	0	0.59043	0.45803	0	0.578056	0.29568	0	0.562822	0.20929	0	.	.	5.29	4.35	0.51454	2.039000	0.40815	6.948000	0.57014	0.676000	0.76740	0.025000	0.20085	1.000000	0.68203	0.971000	0.54645	0.0:0.2446:0.7553:0.0	10.823	0.45820	598	0.68232	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	555.83	41	chr8	22121201	.	G	A	555.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.73;DP=267;ExcessHet=0;FS=3.221;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=7.04;ReadPosRankSum=-1.567;SOR=1.094	GT:AD:DP:GQ:PL	0/1:52,27:79:99:566,0,1343	5	0	1	0
chr8	23437044	23437044	G	A	exonic	ENTPD4	.	nonsynonymous SNV	ENTPD4:NM_001128930:exon10:c.C1240T:p.H414Y,ENTPD4:NM_004901:exon10:c.C1264T:p.H422Y	.	434	1075	11	2	0	15	0.00692841	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.105	0.00707083531017	0.0003	0.00119808	0.0012	9.61e-05	0.0016	0	0	0.0002	0.0022	0.0069	0.001022	158	154602	rs139657829	0.0006	0.0006	0.0004	0.0008	0.0065	0.0005	0.0005	0.0061	0.0059	2.987e-05	0.0006	0	0	0	0.0031	0.0001	0.0008	0.0065	0.0003	0.0003	0.0002	0.0004	0.0050	0.0002	0.0002	0.0034	0.0029	2.405e-05	0	0.0001	0	0	0	0.0068	0.0001	0.0019	0.0050	0.008	0.58626	D	0.084	0.59732	T	0.829	0.46068	P	0.522	0.48285	P	0.000002	0.62929	D	0.133909	0.953318	0.37824	D	1.525	0.38595	L	2.79	0.11189	T	-2.52	0.54702	D	0.433	0.47672	-1.1105	0.03027	T	0.035	0.14987	T	10	0.011068851	0.00243	T	0.007071	0.18731	T	0.105	0.29889	.	.	0.288727942641	0.28479	0.534895443283127	0.53414	0.213149193583	0.23823	0.496249496937	0.38306	T	0.033946	0.47121	T	-0.535876	0.00355	T	-0.539497	0.18346	T	0.0706206693073606	0.08738	T	0.89551	0.66280	D	0.6849581	0.77237	0.47026655	0.69282	0.6849581	0.77238	0.47026655	0.69282	-4.384	0.30520	T	.	.	0.093	0.14201	B	.;.;.;.	.;.;.;.	3.422278	0.47522	22.5	0.99722947962297981	0.82195	0.94050	0.59962	D	AEFBI	0.474694	0.51884	N	0.247822785739112	0.53531	3.521579	0.306732782256088	0.55935	3.756344	0.999658556169345	0.41424	0.719381	0.83141	0	0.724815	0.89359	0	0.724815	0.87919	0	0.733575	0.97253	0	.	.	5.59	4.69	0.58546	2.750000	0.47177	5.082000	0.47276	-0.153000	0.12021	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:0.8502:0.1498	14.320	0.66036	807	0.43470	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001511	0.000000	0.000000	0.000000	0.050000	0.000000	0.000000	0.007576	0.08333	1278.83	34	chr8	23437044	.	G	A	1278.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.02;DP=308;ExcessHet=0;FS=1.411;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.15;ReadPosRankSum=-0.101;SOR=0.841	GT:AD:DP:GQ:PL	0/1:70,56:126:99:1289,0,1748	5	0	1	0
chr8	28463730	28463730	C	T	exonic	FBXO16	.	nonsynonymous SNV	FBXO16:NM_001258211:exon3:c.G188A:p.R63Q,FBXO16:NM_172366:exon4:c.G224A:p.R75Q	.	426	1091	5	0	0	5	0.00228624	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.032	.	0.0032	0.00798722	0.0053	0.0007	0.0036	0.0292	0.0011	0.0035	0.0055	0.0056	0.0051099	790	154602	rs3735726	0.0048	0.0048	0.0048	0.0048	0.0310	0.0047	0.0047	0.0296	0.0290	0.0007	0.0041	0.0036	0.0310	0.0009	0.0023	0.0042	0.0048	0.0048	0.0037	0.0037	0.0038	0.0036	0.0270	0.0035	0.0034	0.0233	0.0219	0.0010	0	0.0040	0.0035	0.0270	0.0004	0.0034	0.0041	0.0043	0.0039	0.491	0.12032	T	0.49	0.12740	T	0.029	0.19866	B	0.003	0.08700	B	0.611412	0.10863	N	0.750729	0.999665	0.20745	N	0.805	0.20218	L	2.56	0.39990	T	-0.4	0.13805	N	0.151	0.19728	-1.0448	0.15884	T	0.026	0.11220	T	10	0.0026821792	0.00041	T	.	.	.	0.032	0.07718	.	.	0.255777322467	0.25185	0.08502330320680847	0.08436	0.0471141811343	0.05133	0.286356389523	0.08394	T	6.16E-4	0.00258	T	-0.611572	0.00124	T	-0.62826	0.10546	T	0.00453315636866865	0.00048	T	0.813419	0.47426	T	0.033555724	0.03597	0.04583415	0.06253	0.033555724	0.03597	0.04583415	0.06253	-7.056	0.54442	T	.	.	0.063	0.02428	B	.;.;.;.	.;.;.;.	1.784550	0.22686	15.72	0.95745011269057601	0.27708	0.38332	0.25964	N	AEFBI	0.124008	0.23987	N	-0.751000629622611	0.14605	0.728991	-0.552886777216525	0.20729	1.118162	0.227983699836338	0.18432	0.615465	0.37627	0	0.633656	0.55848	0	0.658983	0.55881	0	0.586402	0.36253	0	.	.	5.63	2.88	0.32617	-0.123000	0.10586	-0.496000	0.08830	-0.259000	0.06933	0.253000	0.24879	0.000000	0.08366	0.948000	0.49324	0.0:0.685:0.0:0.315	9.094	0.35789	889	0.27310	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.004036	0.020202	0.000000	0.002959	0.000000	0.000000	0.006135	0.000000	0.08333	1640.83	33	chr8	28463730	.	C	T	1640.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.656;DP=311;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.43;ReadPosRankSum=-0.767;SOR=0.7	GT:AD:DP:GQ:PL	0/1:68,64:132:99:1651,0,1692	5	0	1	0
chr8	30837646	30837646	T	A	exonic	TEX15	.	nonsynonymous SNV	TEX15:NM_001350162:exon10:c.A8638T:p.N2880Y	.	.	.	.	.	.	.	.	.	.	.	2451337	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.075	0.014080887149	.	.	8.252e-05	0	8.657e-05	0	0	0	0	0.0005	6.47e-05	10	154602	rs758605539	4.105e-05	4.104e-05	2.178e-05	6.051e-05	0.0007	3.245e-05	2.919e-05	0.0005	0.0005	0	0	0	0	0	0	0	1.656e-05	0.0007	3.286e-05	3.283e-05	0	6.725e-05	0.0010	1.261e-05	7.98e-06	0.0004	0.0003	0	0	0	0	0	0	0	0	0	0.0010	0.023	0.48186	D	0.049	0.48336	D	0.876	0.48154	P	0.346	0.42645	B	0.266535	0.15210	N	0.618971	0.999017	0.21709	N	0.345	0.11182	N	2.9	0.10101	T	-1.56	0.37759	N	0.184	0.19995	-1.0246	0.22214	T	0.016	0.06664	T	10	0.044591784	0.03433	T	0.014081	0.33954	T	0.075	0.21907	0.226	0.15109	0.334161072951	0.33023	0.04308887828396826	0.04253	0.0942058110094	0.10638	0.258803337812	0.04749	T	0.259835	0.63115	T	-0.567901	0.00228	T	-0.692733	0.06232	T	0.121947096149455	0.14619	T	0.531447	0.17660	T	0.07042078	0.15508	0.0639108	0.12730	0.07042078	0.15508	0.0639108	0.12729	-4.814	0.34754	T	.	.	0.094	0.14523	B	.;.;.	.;.;.	1.393275	0.18062	13.53	0.96665035887225481	0.30643	0.34738	0.25138	N	AEBI	0.061246	0.11695	N	-0.410592579138127	0.25097	1.359888	-0.445601700459416	0.23674	1.292272	0.0347439752323815	0.14168	0.615465	0.37627	0	0.573888	0.26702	0	0.658983	0.55881	0	0.655142	0.61905	0	.	.	5.0	3.8	0.42887	0.927000	0.28418	0.762000	0.21323	-0.120000	0.14102	0.276000	0.25103	0.742000	0.26489	0.005000	0.06747	0.0:0.0:0.185:0.815	9.098	0.35815	744	0.52588	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1109.83	34	chr8	30837646	.	T	A	1109.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.612;DP=312;ExcessHet=0;FS=3.736;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.57;ReadPosRankSum=-2.027;SOR=1.137	GT:AD:DP:GQ:PL	0/1:61,44:105:99:1120,0,1681	5	0	1	0
chr8	47962392	47962392	A	G	exonic	MCM4	.	nonsynonymous SNV	MCM4:NM_005914:exon4:c.A487G:p.K163E,MCM4:NM_182746:exon5:c.A487G:p.K163E	Natural killer cell and glucocorticoid deficiency with DNA repair defect, Autosomal recessive	0	1512	10	0	0	10	0.00329598	.	.	.	314607	Primary_immunodeficiency_with_natural-killer_cell_deficiency_and_adrenal_insufficiency|not_provided	MONDO:MONDO:0012383,MedGen:C1864947,OMIM:609981,Orphanet:75391|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.207	0.0360211033476	0.0008	.	0.0006	0	8.649e-05	0	0.0002	0.0009	0.0011	0.0004	0.0005627	87	154602	rs34206069	0.0005	0.0005	0.0004	0.0005	0.0062	0.0004	0.0004	0.0046	0.0041	0.0001	0.0003	0.0053	0	0.0003	0.0062	0.0003	0.0010	0.0004	0.0005	0.0005	0.0005	0.0005	0.0008	0.0004	0.0004	0.0004	0.0004	4.81e-05	0	0.0003	0.0060	0	0.0004	0.0068	0.0006	0.0009	0.0008	0.175	0.22400	T	0.624	0.07342	T	0.126	0.26920	B	0.06	0.26717	B	0.000000	0.84330	D	0.090253	1	0.81001	D	2.79	0.81396	M	2.72	0.11947	T	-2.11	0.48020	N	0.694	0.69913	-1.1215	0.02239	T	0.047	0.19958	T	9	0.013287008	0.00282	T	0.036021	0.56721	D	0.207	0.49555	.	.	0.220303561663	0.21668	0.6464708432910536	0.64582	0.296881417285	0.32077	0.691836297512	0.65969	T	0.211728	0.57258	T	-0.230912	0.16527	T	-0.117695	0.61990	T	0.0680417964843266	0.08374	T	0.914909	0.71446	D	0.76549876	0.81779	0.65940475	0.80047	0.7058984	0.78382	0.70069766	0.82366	-14.744	0.95224	D	0.35545787551828145	0.45234	0.723	0.76291	P	.;.;.;.;.;.;.	.;.;.;.;.;.;.	3.602358	0.50884	23.0	0.985095756757287	0.42325	0.99156	0.92054	D	AEFDGBCI	0.948456	0.96010	D	0.194967922276197	0.50958	3.280963	0.345863227491561	0.58259	3.995446	0.999999999999242	0.74766	0.660085	0.49399	0	0.685571	0.66316	0	0.685571	0.62057	0	0.651492	0.60203	0	.	.	5.61	5.61	0.85347	8.697000	0.91034	11.227000	0.89965	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.991000	0.66497	1.0:0.0:0.0:0.0	15.803	0.78241	542	0.72843	.;.;MCM N-terminal domain;.;MCM N-terminal domain;MCM N-terminal domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.004532	0.000000	0.005435	0.000000	0.050000	0.008621	0.009146	0.007576	0.08333	781.83	33	chr8	47962392	.	A	G	781.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.85;DP=237;ExcessHet=0;FS=1.086;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.03;ReadPosRankSum=0;SOR=1.027	GT:AD:DP:GQ:PL	0/1:30,30:60:99:792,0,735	5	0	1	0
chr8	49075160	49075160	T	G	exonic	PPDPFL	.	nonsynonymous SNV	PPDPFL:NM_001256596:exon5:c.T242G:p.M81R,PPDPFL:NM_001256597:exon5:c.T242G:p.M81R	.	429	1089	4	0	0	4	0.00183318	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.094	0.000541215822055	0.0031	0.000998403	0.0024	0.0012	0.0014	0	0.0018	0.0035	0.0045	0.0007	0.0023932	370	154602	rs180910379	0.0033	0.0033	0.0033	0.0033	0.0040	0.0033	0.0032	0.0039	0.0039	0.0010	0.0018	0.0001	2.519e-05	0.0013	0.0024	0.0040	0.0026	0.0009	0.0026	0.0026	0.0028	0.0024	0.0041	0.0024	0.0023	0.0037	0.0035	0.0006	0.0099	0.0032	0.0003	0	0.0021	0	0.0041	0.0019	0.0010	0.015	0.52492	D	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	0.19	0.04947	N	0.096	0.07673	-1.0261	0.21723	T	0.027	0.11441	T	4	0.005693257	0.00126	T	5.41E-4	0.00196	T	0.094	0.27141	.	.	0.0138822411134	0.00435	.	.	.	.	.	.	.	.	.	.	-0.605261	0.00135	T	-0.641789	0.09539	T	0.00610738012166533	0.00067	T	0.214779	0.02659	T	.	.	.	.	.	.	.	.	-2.243	0.04254	T	.	.	0.120	0.24867	B	.;.	.;.	0.687930	0.10564	7.273	0.30085421067863383	0.01628	0.01882	0.05788	N	AEFI	0.040430	0.06014	N	-1.07781643229902	0.07054	0.3265441	-1.33318348274486	0.04008	0.1881722	0.088683850081247	0.16066	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.66	-7.23	0.01331	-0.040000	0.12056	-2.989000	0.03163	-0.120000	0.14102	0.000000	0.06391	0.000000	0.08366	0.012000	0.09680	0.1321:0.2911:0.3035:0.2733	1.480	0.02288	700	0.57880	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	1635.83	37	chr8	49075160	.	T	G	1635.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.4;DP=299;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.09;ReadPosRankSum=-0.709;SOR=0.645	GT:AD:DP:GQ:PL	0/1:60,65:125:99:1646,0,1348	5	0	1	0
chr8	53939660	53939660	G	A	exonic	RGS20	.	nonsynonymous SNV	RGS20:NM_001286673:exon2:c.G250A:p.G84R,RGS20:NM_003702:exon2:c.G154A:p.G52R,RGS20:NM_170587:exon3:c.G595A:p.G199R	.	434	1084	3	1	0	5	0.00230097	.	.	.	2677238	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.105	0.0175486056843	0.0002	0.000599042	0.0011	0	0.0032	0	0	0.0013	0.0029	0.0010	0.0005304	82	154602	rs145171609	0.0005	0.0005	0.0004	0.0006	0.0028	0.0005	0.0005	0.0017	0.0014	0.0002	0.0008	0.0014	2.575e-05	0.0001	0.0028	0.0005	0.0007	0.0009	0.0004	0.0004	0.0004	0.0004	0.0008	0.0003	0.0003	0.0005	0.0004	7.214e-05	0	0.0001	0.0009	0	0	0	0.0006	0.0019	0.0008	0.107	0.29554	T	0.068	0.44106	T	0.476	0.36665	P	0.018	0.22546	B	0.000000	0.00162	N	9.434290	0.999945	0.51968	D	0.46	0.12951	N	1.06	0.39781	T	-2.3	0.51157	N	0.219	0.32259	-0.9851	0.33808	T	0.096	0.36185	T	10	0.006878078	0.00156	T	0.017549	0.39293	T	0.105	0.29889	0.19	0.10039	0.640616392243	0.63765	0.3122192068859138	0.31134	0.572173580468	0.53320	0.418564289808	0.27639	T	0.213468	0.57479	T	-0.43418	0.01399	T	-0.441997	0.28586	T	0.0138266653733792	0.00262	T	0.738826	0.35731	T	0.14482066	0.33224	0.13043335	0.31342	0.14482066	0.33224	0.13043335	0.31341	-4.275	0.37399	T	.	.	0.141	0.31048	B	.;.;.	.;.;.	1.904010	0.24183	16.30	0.92103513438150508	0.21455	0.78640	0.38829	D	AEFDBI	0.232933	0.35593	N	-0.496720734237631	0.22187	1.182995	-0.49459559697198	0.22303	1.210674	0.99994026683177	0.47345	0.660377	0.49826	0	0.694456	0.67091	0	0.602189	0.34648	0	0.567892	0.33627	0	.	.	4.81	2.98	0.33575	3.085000	0.49849	2.795000	0.34819	0.676000	0.76740	0.996000	0.39380	0.326000	0.24349	0.013000	0.09966	0.1265:0.0:0.8735:0.0	11.590	0.50195	906	0.23090	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002525	0.000000	0.001362	0.000000	0.000000	0.000000	0.006135	0.003788	0.08333	214.83	33	chr8	53939660	.	G	A	214.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.351;DP=202;ExcessHet=0;FS=1.422;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=6.71;ReadPosRankSum=-0.159;SOR=0.446	GT:AD:DP:GQ:PL	0/1:21,11:32:99:225,0,516	5	0	1	0
chr8	80665069	80665069	A	G	exonic	ZNF704	.	nonsynonymous SNV	ZNF704:NM_001033723:exon6:c.T673C:p.S225P,ZNF704:NM_001367783:exon6:c.T1195C:p.S399P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.409	0.0730362992064	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.281	0.15458	T	0.332	0.18449	T	1.0	0.90584	D	0.997	0.86255	D	0.000001	0.84330	D	0.063358	1	0.81001	D	1.46	0.36832	L	-1.71	0.83157	D	-1.03	0.27052	N	0.643	0.65501	0.062	0.83474	D	0.602	0.85864	D	10	0.59177226	0.66421	D	0.073036	0.71685	D	0.409	0.72099	0.17	0.07536	0.375737878683	0.37188	0.45239820224102656	0.45157	1.78295362445	0.91415	0.689910054207	0.65693	T	0.13371	0.46454	T	0.229536	0.76678	D	0.0919362	0.76375	D	0.83990629264257	0.49320	D	0.544446	0.18591	T	0.35746488	0.57642	0.24827111	0.50374	0.35746488	0.57643	0.24827111	0.50373	-10.879	0.78990	D	.	.	0.272	0.50636	B	.	.	5.505953	0.91635	32	0.99769210717876655	0.85750	0.99250	0.93443	D	AEFI	0.957925	0.97740	D	0.667807111119018	0.77524	6.691571	0.705630887846811	0.82806	7.859298	0.999999233374523	0.74766	0.638212	0.43195	0	0.573888	0.26702	0	0.653264	0.51672	0	0.635551	0.53088	0	.	.	6.07	6.07	0.98675	9.325000	0.96006	11.147000	0.87239	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.958000	0.51230	1.0:0.0:0.0:0.0	16.628	0.84839	848	0.35897	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	977.83	33	chr8	80665069	.	A	G	977.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.973;DP=249;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.04;ReadPosRankSum=-2.051;SOR=0.793	GT:AD:DP:GQ:PL	0/1:38,37:75:99:988,0,1067	5	0	1	0
chr8	85250939	85250939	T	C	splicing	CA13	NM_198584:exon2:c.235+2T>C	.	.	.	.	.	.	.	.	.	.	0.9999	0.898	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.657e-05	0	8.649e-05	0	0	1.502e-05	0	0	1.29e-05	2	154602	rs767376724	2.738e-06	2.736e-06	0	5.504e-06	0.0002	6.4e-07	4.3e-07	3e-07	1.1e-07	0	0	0	0	0	0.0002	1.8e-06	0	1.16e-05	6.587e-06	6.573e-06	1.287e-05	0	6.563e-05	0	0	.	.	0	0	6.563e-05	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.15527	0.69761	D	-0.014742	0.69375	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.736023	0.76327	26.5	0.97819436882980026	0.36181	0.99381	0.95289	D	AEFI	.	.	.	0.860414606237816	0.89692	10.078	0.653495242298954	0.78872	6.964331	0.999974726514976	0.50053	0.053691	0.00478	0	0.060609	0.00678	0	0.063197	0.01477	0	0.057018	0.00518	0	0.826211	0.49445	5.41	4.26	0.49832	4.785000	0.62110	7.794000	0.68965	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.844000	0.39860	0.0:0.0733:0.0:0.9267	10.954	0.46558	782	0.47442	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1015.83	33	chr8	85250939	.	T	C	1015.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.728;DP=266;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.09;ReadPosRankSum=-1.978;SOR=0.629	GT:AD:DP:GQ:PL	0/1:43,41:84:99:1026,0,1181	5	0	1	0
chr8	93734469	93734469	-	T	exonic	RBM12B	.	frameshift insertion	RBM12B:NM_001377964:exon2:c.1941_1942insA:p.E648Rfs*9,RBM12B:NM_001377962:exon3:c.1941_1942insA:p.E648Rfs*9,RBM12B:NM_001377963:exon3:c.1941_1942insA:p.E648Rfs*9,RBM12B:NM_203390:exon3:c.1941_1942insA:p.E648Rfs*9,RBM12B:NM_001377960:exon4:c.1941_1942insA:p.E648Rfs*9,RBM12B:NM_001377961:exon5:c.1941_1942insA:p.E648Rfs*9	.	422	1097	2	0	1	3	0.000910747	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001	0	0	0	0	1.529e-05	0	0.0008	9.7e-05	15	154602	rs765756035	3.714e-05	3.7e-05	2.6e-05	4.839e-05	0.0005	2.909e-05	2.606e-05	0.0004	0.0004	0	0	0	0	0	0.0005	2.71e-06	3.332e-05	0.0005	0	1.317e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	901.79	33	chr8	93734469	.	C	CT	901.79	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.508;DP=232;ExcessHet=0;FS=3.634;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=28.18;ReadPosRankSum=-0.461;SOR=0.666	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:9,23:32:99:0|1:93734469_C_CT:912,0,288:93734469	5	0	1	0
chr8	93734470	93734470	-	GGAGCTGCCTGAAGTCCTCCTCT	exonic	RBM12B	.	frameshift insertion	RBM12B:NM_001377964:exon2:c.1940_1941insAGAGGAGGACTTCAGGCAGCTCC:p.P654Lfs*14,RBM12B:NM_001377962:exon3:c.1940_1941insAGAGGAGGACTTCAGGCAGCTCC:p.P654Lfs*14,RBM12B:NM_001377963:exon3:c.1940_1941insAGAGGAGGACTTCAGGCAGCTCC:p.P654Lfs*14,RBM12B:NM_203390:exon3:c.1940_1941insAGAGGAGGACTTCAGGCAGCTCC:p.P654Lfs*14,RBM12B:NM_001377960:exon4:c.1940_1941insAGAGGAGGACTTCAGGCAGCTCC:p.P654Lfs*14,RBM12B:NM_001377961:exon5:c.1940_1941insAGAGGAGGACTTCAGGCAGCTCC:p.P654Lfs*14	.	435	448	441	196	2	835	0.481781	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001	0	0	0	0	1.521e-05	0	0.0008	3.84e-05	1	26028	rs753234790	3.695e-05	3.695e-05	2.587e-05	4.815e-05	0.0005	2.895e-05	2.593e-05	0.0004	0.0004	0	0	0	0	0	0.0005	2.699e-06	3.313e-05	0.0005	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	4484.79	33	chr8	93734470	.	G	GGGAGCTGCCTGAAGTCCTCCTCT	4484.79	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.09;DP=257;ExcessHet=2.3007;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=21.56;ReadPosRankSum=-0.44;SOR=0.724	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:9,23:32:99:0|1:93734469_C_CT:912,0,288:93734469	5	0	1	0
chr8	94940181	94940186	TCTTCT	-	exonic	TP53INP1	.	nonframeshift deletion	TP53INP1:NM_001135733:exon3:c.147_152del:p.E51_E52del,TP53INP1:NM_033285:exon3:c.147_152del:p.E51_E52del	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.572e-05	0.0001	0	0	0	3.08e-05	0	0	1.94e-05	3	154602	rs767017254	1.51e-05	2.531e-05	1.502e-05	1.517e-05	0.0009	9.88e-06	8.44e-06	0.0003	0.0002	0	0	0	2.521e-05	0	0.0009	1.173e-05	1.662e-05	2.324e-05	1.973e-05	1.971e-05	0	4.041e-05	2.942e-05	5.25e-06	2.46e-06	4.88e-06	1.83e-06	2.416e-05	0	0	0	0	0	0	2.942e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	555.79	37	chr8	94940180	.	CTCTTCT	C	555.79	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.818;DP=232;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.34;ReadPosRankSum=-2.283;SOR=0.874	GT:AD:DP:GQ:PL	0/1:32,17:49:99:566,0,1262	5	0	1	0
chr8	100062621	100062621	G	A	exonic	RGS22	.	nonsynonymous SNV	RGS22:NM_001286693:exon7:c.C941T:p.S314F,RGS22:NM_001286692:exon9:c.C1448T:p.S483F,RGS22:NM_015668:exon9:c.C1484T:p.S495F	.	483	1032	6	1	0	8	0.003861	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.089	0.0587215122403	.	0.00179712	0.0014	0	8.887e-05	0	0	4.59e-05	0	0.0096	0.0011384	176	154602	rs529511396	0.0006	0.0006	0.0003	0.0009	0.0090	0.0005	0.0005	0.0085	0.0082	0	4.572e-05	0	0	0	0.0016	3.166e-05	0.0004	0.0090	0.0004	0.0004	0.0003	0.0005	0.0112	0.0003	0.0003	0.0088	0.0080	2.407e-05	0	0	0	0	0	0	1.471e-05	0	0.0112	0.139	0.25768	T	0.066	0.44501	T	0.479	0.36725	P	0.048	0.24975	B	0.004186	0.01010	N	2.597870	1	0.08975	N	1.245	0.31408	L	-0.08	0.63911	T	-1.77	0.42575	N	0.263	0.31365	-1.0101	0.26886	T	0.107	0.39027	T	10	0.0059093833	0.00132	T	0.058722	0.67417	D	0.089	0.25827	.	.	0.589041309526	0.58578	0.14192842626022797	0.14115	0.0819930394997	0.09240	0.271501690149	0.06338	T	0.008123	0.21325	T	-0.514242	0.00475	T	-0.505617	0.21765	T	0.0233400289596884	0.01064	T	0.593441	0.22486	T	0.06867097	0.14979	0.06928477	0.14578	0.06867097	0.14979	0.06928477	0.14577	-8.74	0.66008	D	.	.	0.119	0.39596	B	.;.;.;.	.;.;.;.	2.368170	0.30382	18.42	0.83613710399087682	0.14823	0.45469	0.27545	N	AEFGBI	0.099228	0.19978	N	-0.943552188207871	0.09838	0.4674005	-0.982841641753276	0.10171	0.510555	0.729618732244386	0.23028	0.497415	0.19182	0	0.475579	0.06741	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.26	-4.9	0.02866	0.893000	0.27970	0.527000	0.19215	-0.106000	0.15538	0.933000	0.32380	0.019000	0.20708	0.900000	0.43643	0.2411:0.394:0.2644:0.1005	3.355	0.06748	0	0.99858	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002518	0.000000	0.000000	0.005848	0.000000	0.000000	0.006098	0.000000	0.08333	779.83	34	chr8	100062621	.	G	A	779.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.548;DP=263;ExcessHet=0;FS=4.486;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=9.4;ReadPosRankSum=2.13;SOR=1.272	GT:AD:DP:GQ:PL	0/1:51,32:83:99:790,0,1373	5	0	1	0
chr8	102560795	102560803	AGCCCCTGC	0	exonic	ODF1	.	.	.	.	430	603	23	0	466	489	0.0187144	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	1512.01	35	chr8	102560795	.	AGCCCCTGC	*	1512.01	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.189;DP=356;ExcessHet=0.4139;FS=1.844;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=8.26;ReadPosRankSum=-0.018;SOR=0.838	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:52,42:96:99:.:.:1644,0,2049:.	5	0	1	0
chr8	102560804	102560814	AACCCGTGCAG	0	exonic	ODF1	.	.	.	.	433	610	23	0	456	479	0.0185036	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	1430.01	35	chr8	102560804	.	AACCCGTGCAG	*	1430.01	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.363;DP=355;ExcessHet=0.4139;FS=1.868;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=7.77;ReadPosRankSum=0.389;SOR=0.859	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:52,42:96:99:.:.:1644,0,2049:.	5	0	1	0
chr8	105802166	105802166	C	T	exonic	ZFPM2	.	nonsynonymous SNV	ZFPM2:NM_001362836:exon7:c.C1925T:p.T642I,ZFPM2:NM_001362837:exon8:c.C1688T:p.T563I,ZFPM2:NM_012082:exon8:c.C2084T:p.T695I	Diaphragmatic hernia 3;Tetralogy of Fallot, Autosomal dominant;46XY sex reversal 9, Autosomal dominant	0	1518	4	0	0	4	0.00131579	.	.	.	2675402	Inborn_genetic_diseases	MeSH:D030342,MedGen:C0950123	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.284	0.023903429405	.	.	8.324e-05	0	0.0002	0	0	1.505e-05	0	0.0004	6.47e-05	10	154602	rs757616386	5.679e-05	5.678e-05	2.723e-05	8.665e-05	0.0008	4.677e-05	4.302e-05	0.0007	0.0006	0	0	0	0	0	0.0005	2.698e-06	6.625e-05	0.0008	1.972e-05	1.97e-05	1.285e-05	2.691e-05	0.0006	5.24e-06	2.45e-06	0.0002	8.992e-05	0	0	0	0	0	0	0	0	0	0.0006	0.096	0.43085	T	0.042	0.51421	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.32	0.66415	M	1.34	0.34841	T	-2.48	0.54059	N	0.797	0.89577	-0.7503	0.57919	T	0.202	0.55836	T	10	0.44877598	0.58565	T	0.023903	0.46878	T	0.284	0.60219	0.374	0.38667	0.542495532069	0.53903	0.5806165859495843	0.57990	0.520921126819	0.49874	0.895971179008	0.95981	D	0.494172	0.81742	T	-0.0453251	0.45156	T	0.0693814	0.74867	D	0.258131721067725	0.23233	T	0.90311	0.66064	D	0.2786056	0.50913	0.22689068	0.47681	0.2786056	0.50913	0.22689068	0.47680	-10.578	0.77294	D	.	.	0.609	0.85176	P	.;.;.	.;.;.	4.556267	0.71761	25.7	0.99849752482150778	0.92925	0.94824	0.62456	D	AEFBCI	0.804423	0.72929	D	0.631061749827587	0.75147	6.255048	0.615277302915503	0.76047	6.419927	0.999381367229861	0.39415	0.706548	0.73137	0	0.588015	0.36545	0	0.602189	0.34648	0	0.714379	0.83352	0	.	.	5.72	4.83	0.61880	6.049000	0.70682	7.738000	0.67953	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.1367:0.8633:0.0:0.0	15.865	0.78838	812	0.42537	Zinc finger CCHC FOG-type|Zinc finger C2H2-type;Zinc finger CCHC FOG-type|Zinc finger C2H2-type;Zinc finger CCHC FOG-type|Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.000000	0.000000	0.000000	0.008621	0.000000	0.007576	0.08333	2188.83	33	chr8	105802166	.	C	T	2188.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.452;DP=386;ExcessHet=0;FS=4.821;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.47;ReadPosRankSum=-1.527;SOR=0.452	GT:AD:DP:GQ:PL	0/1:117,92:209:99:2199,0,3157	5	0	1	0
chr8	112265476	112265476	T	A	exonic	CSMD3	.	nonsynonymous SNV	CSMD3:NM_001363185:exon56:c.A9023T:p.N3008I,CSMD3:NM_052900:exon58:c.A9116T:p.N3039I,CSMD3:NM_198123:exon60:c.A9623T:p.N3208I,CSMD3:NM_198124:exon61:c.A9503T:p.N3168I	.	425	1038	57	2	0	61	0.0285447	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.097	.	0.0030	0.00419329	0.0046	0.0007	0.0016	0	0.0006	0.0050	0.0088	0.0118	0.0044437	687	154602	rs61759499	0.0045	0.0045	0.0042	0.0049	0.0248	0.0044	0.0044	0.0215	0.0202	0.0011	0.0023	0.0094	0.0002	0.0004	0.0248	0.0042	0.0053	0.0122	0.0034	0.0034	0.0037	0.0031	0.0102	0.0032	0.0031	0.0079	0.0071	0.0008	0	0.0020	0.0130	0	0.0003	0.0238	0.0050	0.0052	0.0102	0.259	0.20456	T	0.225	0.25827	T	0.02	0.49385	B	0.018	0.55692	B	0.000977	0.40836	D	0.211612	0.999992	0.58761	D	-1.115	0.00953	N	-0.14	0.65006	T	-3.09	0.63438	D	0.856	0.85238	-0.8346	0.53002	T	0.163	0.49864	T	10	0.0080629885	0.00183	T	.	.	.	0.097	0.27909	.	.	0.255117706274	0.25116	0.2820143294223687	0.28114	0.567525139074	0.53010	0.424648225307	0.28476	T	0.043682	0.26579	T	-0.441398	0.01269	T	-0.395783	0.33875	T	0.0381416662886477	0.03357	T	0.631037	0.32360	T	0.29920405	0.52834	0.23564972	0.48815	0.29920405	0.52833	0.23564972	0.48814	-7.349	0.58611	T	.	.	0.138	0.30022	B	.;.;.;.	.;.;.;.	3.411280	0.47324	22.4	0.97637824020420805	0.35063	0.96486	0.69378	D	AEFGI	0.713844	0.66651	D	0.13987230302269	0.48332	3.046874	0.270081304787182	0.53799	3.547272	0.998598772479356	0.37268	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.44	5.44	0.79348	2.710000	0.46837	5.043000	0.46929	0.609000	0.47794	0.972000	0.34453	1.000000	0.68203	0.887000	0.42601	0.0:0.0:0.0:1.0	15.778	0.78007	865	0.32612	.;Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain;Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.025706	0.010101	0.035326	0.023392	0.000000	0.034483	0.021472	0.011364	0.08333	1002.83	33	chr8	112265476	.	T	A	1002.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.86;DP=245;ExcessHet=0;FS=0.972;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.53;ReadPosRankSum=-2.696;SOR=0.936	GT:AD:DP:GQ:PL	0/1:28,41:69:99:1013,0,605	5	0	1	0
chr8	116938319	116938319	C	G	exonic	AARD	.	nonsynonymous SNV	AARD:NM_001025357:exon1:c.C76G:p.L26V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.170	0.0430937671105	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1248669595	2.054e-06	2.052e-06	1.363e-06	2.753e-06	0.0002	5.5e-07	1.5e-07	.	.	0	0	0	0	0	0.0002	0	3.313e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.019	0.50132	D	0.046	0.49120	D	0.994	0.66517	D	0.841	0.60228	P	0.003083	0.35449	N	0.000000	1	0.08975	N	0.805	0.20218	L	1.24	0.36691	T	-1.61	0.38734	N	0.306	0.34552	-1.0788	0.07582	T	0.094	0.35711	T	10	0.19382668	0.35168	T	0.043094	0.60807	D	0.170	0.43303	0.23	0.15705	0.162503812791	0.15892	0.031445551271447936	0.03093	0.955501152494	0.72796	0.406776368618	0.26010	T	0.013114	0.11404	T	-0.107063	0.35253	T	-0.391565	0.34367	T	0.306455002691576	0.25268	T	0.456654	0.13107	T	0.17311035	0.38040	0.15863143	0.37035	0.17311035	0.38040	0.15863143	0.37035	-3.96	0.23203	T	.	.	0.121	0.25100	B	.	.	2.158264	0.27497	17.48	0.992518307502259	0.56891	0.14826	0.18605	N	ALL	0.044765	0.07242	N	-0.305269036755223	0.28947	1.600998	-0.505266615042067	0.22009	1.193396	0.999999999907316	0.74766	0.59774	0.34471	0	0.596491	0.49125	0	0.47417	0.07244	0	0.56751	0.32155	0	.	.	3.36	2.48	0.29194	1.726000	0.37706	-0.012000	0.13046	0.530000	0.24713	0.003000	0.16062	0.000000	0.08366	0.002000	0.04165	0.0:0.864:0.0:0.136	6.552	0.21638	873	0.30802	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	532.83	36	chr8	116938319	.	C	G	532.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.65;DP=246;ExcessHet=0;FS=0.984;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=8.07;ReadPosRankSum=2.7;SOR=0.909	GT:AD:DP:GQ:PL	0/1:43,23:66:99:543,0,1026	5	0	1	0
chr8	120490555	120490555	T	G	exonic	MTBP	.	nonsynonymous SNV	MTBP:NM_022045:exon13:c.T1432G:p.L478V	.	434	1076	12	0	0	12	0.00554529	.	.	.	2828481	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.019	.	0.0015	0.00399361	0.0027	0.0003	0.0007	0	0.0015	0.0023	0.0056	0.0089	0.002542	393	154602	rs148151530	0.0021	0.0021	0.0019	0.0022	0.0081	0.0020	0.0020	0.0076	0.0074	0.0002	0.0006	0.0047	5.106e-05	0.0023	0.0012	0.0017	0.0021	0.0081	0.0014	0.0014	0.0012	0.0016	0.0075	0.0013	0.0012	0.0055	0.0049	0.0002	0	0.0017	0.0052	0.0002	0.0020	0	0.0015	0.0014	0.0075	0.159	0.23813	T	0.24	0.24406	T	0.054	0.22658	B	0.016	0.17743	B	0.012499	0.29156	N	0.323169	0.99794	0.44345	D	1.545	0.39105	L	.	.	.	-1.78	0.42001	N	0.24	0.27077	-1.0529	0.13601	T	0.088	0.34105	T	9	0.006462723	0.00146	T	.	.	.	0.019	0.03383	.	.	0.250579442822	0.24687	0.4763601740251134	0.47556	0.174194465544	0.19610	0.366567730904	0.20338	T	0.19557	0.55169	T	-0.460437	0.00977	T	-0.428753	0.30077	T	0.00645529215309807	0.00072	T	0.719228	0.33234	T	0.11241137	0.26557	0.10191243	0.24411	0.11241137	0.26557	0.10191243	0.24411	-4.215	0.26968	T	.	.	0.101	0.17657	B	.	.	2.125185	0.27051	17.33	0.97078150097488014	0.32268	0.84831	0.43922	D	AEFDBI	0.223015	0.34742	N	-0.317623983300179	0.28477	1.571127	-0.169863050127608	0.32651	1.85977	0.162222999246146	0.17610	0.651	0.46895	0	0.708844	0.79440	0	0.653264	0.51672	0	0.655142	0.61905	0	.	.	5.87	3.49	0.39065	2.075000	0.41163	0.862000	0.22237	0.609000	0.47794	1.000000	0.71638	0.999000	0.35428	0.877000	0.41881	0.0:0.0681:0.2702:0.6617	7.507	0.26720	703	0.57489	MDM2-binding protein, central domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.003021	0.000000	0.000000	0.008772	0.000000	0.000000	0.000000	0.007576	0.08333	512.83	34	chr8	120490555	.	T	G	512.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.484;DP=222;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.06;ReadPosRankSum=-0.502;SOR=0.84	GT:AD:DP:GQ:PL	0/1:28,23:51:99:523,0,634	5	0	1	0
chr8	123369919	123369927	TCATCATCA	-	exonic	ATAD2	.	nonframeshift deletion	ATAD2:NM_014109:exon7:c.825_833del:p.D275_D277del	.	3	209	5	0	9	14	0.0118203	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0030	0.0009	0.0022	0.0019	0.0011	0.0042	0	0.0021	0.0003458	9	26028	rs751807156	0.0025	0.0026	0.0025	0.0025	0.0032	0.0025	0.0024	0.0027	0.0027	0.0005	0.0032	0.0024	0.0007	0.0012	0.0009	0.0028	0.0023	0.0018	0.0021	0.0021	0.0023	0.0019	0.0035	0.0019	0.0018	0.0027	0.0025	0.0007	0	0.0024	0.0026	0.0017	0.0009	0	0.0030	0.0024	0.0035	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	711.79	34	chr8	123369918	.	TTCATCATCA	T	711.79	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.81;DP=237;ExcessHet=0;FS=4.566;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=16.95;ReadPosRankSum=2.59;SOR=0.423	GT:AD:DP:GQ:PL	0/1:23,19:42:99:722,0,849	5	0	1	0
chr8	123812551	123812551	G	T	exonic	FAM91A1	.	nonsynonymous SNV	FAM91A1:NM_001317917:exon24:c.G1638T:p.E546D,FAM91A1:NM_144963:exon24:c.G2364T:p.E788D	.	437	1077	7	1	0	9	0.00416089	.	.	.	2828487	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.109	.	.	0.00199681	0.0008	0	0	0	0	3.049e-05	0.0023	0.0064	0.0006662	103	154602	rs559570553	0.0004	0.0004	0.0002	0.0005	0.0058	0.0003	0.0003	0.0054	0.0052	3.123e-05	0	0	2.554e-05	0	0.0011	1.176e-05	0.0004	0.0058	0.0002	0.0002	0.0002	0.0003	0.0056	0.0002	0.0001	0.0040	0.0034	0	0	0.0001	0	0	0	0.0034	4.41e-05	0	0.0056	0.813	0.03013	T	0.673	0.06245	T	0.0	0.02946	B	0.004	0.10090	B	0.000000	0.84330	D	0.085531	0.936837	0.37169	D	0	0.06538	N	1.47	0.31987	T	-0.02	0.07299	N	0.057	0.02861	-1.0542	0.13251	T	0.028	0.11971	T	10	0.00415954	0.00082	T	.	.	.	0.109	0.30843	0.21	0.12781	0.043077524339	0.03247	0.2892239892632202	0.28835	0.405078446708	0.41395	0.377963334322	0.21966	T	0.051914	0.29014	T	-0.564537	0.00238	T	-0.581499	0.14411	T	0.0440003081627695	0.04421	T	0.689031	0.29821	T	0.093532726	0.21971	0.08083919	0.18322	0.093532726	0.21970	0.08083919	0.18321	-2.506	0.05822	T	.	.	0.060	0.00979	B	.	.	0.658592	0.10271	7.005	0.95230278743824681	0.26460	0.89888	0.50651	D	AEFBI	0.156875	0.28230	N	-0.64946134204889	0.17476	0.8996107	-0.450031101368281	0.23548	1.284729	0.537883968128475	0.21229	0.706548	0.73137	0	0.724815	0.89359	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	5.89	4.1	0.47196	0.437000	0.21261	3.055000	0.36136	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.080000	0.17246	0.1385:0.0:0.7261:0.1354	8.225	0.30722	940	0.13648	FAM91, C-terminal domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.000611	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.004202	0.08333	458.83	35	chr8	123812551	.	G	T	458.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.56;DP=166;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=59.59;MQRankSum=-0.784;QD=14.8;ReadPosRankSum=-1.903;SOR=0.693	GT:AD:DP:GQ:PL	0/1:13,18:31:99:469,0,316	5	0	1	0
chr8	124553103	124553103	G	T	exonic	MTSS1	.	nonsynonymous SNV	MTSS1:NM_001363300:exon13:c.C1962A:p.D654E,MTSS1:NM_001363301:exon13:c.C1959A:p.D653E,MTSS1:NM_001363302:exon13:c.C1911A:p.D637E,MTSS1:NM_001282974:exon14:c.C2082A:p.D694E,MTSS1:NM_001363294:exon14:c.C2154A:p.D718E,MTSS1:NM_001363295:exon14:c.C2106A:p.D702E,MTSS1:NM_001363298:exon14:c.C2079A:p.D693E,MTSS1:NM_001363299:exon14:c.C1974A:p.D658E,MTSS1:NM_014751:exon14:c.C2157A:p.D719E,MTSS1:NM_001282971:exon15:c.C2169A:p.D723E,MTSS1:NM_001363296:exon15:c.C2094A:p.D698E,MTSS1:NM_001363297:exon15:c.C2091A:p.D697E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.047	0.00476770475096	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.84e-07	6.84e-07	1.361e-06	0	0.0002	0	0	.	.	0	0	0	0	0	0.0002	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.72	0.05992	T	1.0	0.01155	T	0.0	0.12996	B	0.001	0.12133	B	0.062757	0.22075	N	0.500084	0.999824	0.81001	N	1.265	0.31966	L	1.6	0.28604	T	-0.51	0.21215	N	0.034	0.04547	-1.0130	0.25975	T	0.069	0.28180	T	10	0.07856375	0.12535	T	0.004768	0.11910	T	0.063	0.18251	0.052	0.00113	0.587762011895	0.58451	0.06679750434703359	0.06617	0.330764358393	0.35157	0.42318880558	0.28275	T	0.184442	0.53709	T	-0.29714	0.08932	T	-0.664598	0.07959	T	0.0281491260975599	0.01710	T	0.754325	0.38317	T	0.038518023	0.05147	0.0329894	0.02120	0.038518023	0.05146	0.0329894	0.02120	-3.02	0.11239	T	.	.	0.085	0.10352	B	.;.;.;.;.	.;.;.;.;.	1.239312	0.16346	12.48	0.57590919780145378	0.05803	0.90936	0.52543	D	AEFGBCI	0.283399	0.39651	N	-0.416956948475576	0.24875	1.346245	-0.38479944543262	0.25450	1.399631	0.999949559600784	0.47345	0.67177	0.52595	0	0.379588	0.06130	0	0.65145	0.50148	0	0.711	0.71501	0	.	.	6.14	1.13	0.19758	0.229000	0.17614	0.641000	0.20320	-0.106000	0.15538	0.956000	0.33378	0.997000	0.33255	0.685000	0.33688	0.1822:0.4378:0.38:0.0	8.837	0.34276	893	0.26510	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	1783.83	42	chr8	124553103	.	G	T	1783.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.56;DP=318;ExcessHet=0;FS=11.385;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.94;ReadPosRankSum=-0.548;SOR=1.574	GT:AD:DP:GQ:PL	0/1:62,66:128:99:1794,0,1460	5	0	1	0
chr8	142917776	142917776	C	T	exonic	CYP11B2	.	nonsynonymous SNV	CYP11B2:NM_000498:exon1:c.G65A:p.R22Q	Aldosterone to renin ratio raised (3);Hypoaldosteronism, congenital, due to CMO I deficiency, Autosomal recessive;Hypoaldosteronism, congenital, due to CMO II deficiency, Autosomal recessive	.	.	.	.	.	.	.	.	.	YES	1654991	not_specified|not_provided|Corticosterone_18-monooxygenase_deficiency|Corticosterone_methyloxidase_type_2_deficiency	MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0008751,MedGen:C0268293,OMIM:203400,Orphanet:427|MONDO:MONDO:0012524,MedGen:C3463917,OMIM:610600,Orphanet:427	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.119	0.108152280726	7.7e-05	0.000399361	0.0002	0	8.646e-05	0	0	0.0001	0.0011	0.0007	0.0001488	23	154602	rs200559721	8.483e-05	8.482e-05	7.759e-05	9.213e-05	0.0003	7.209e-05	6.796e-05	0.0002	0.0002	0	4.472e-05	0.0004	2.519e-05	0	0	6.475e-05	0.0002	0.0003	5.251e-05	5.249e-05	6.422e-05	4.026e-05	0.0004	2.555e-05	1.828e-05	7.296e-05	3.031e-05	4.809e-05	0	0	0	0	0	0	5.879e-05	0	0.0004	0.205	0.20002	T	0.139	0.33666	T	0.003	0.11197	B	0.002	0.06944	B	.	.	.	.	1	0.08975	N	1.24	0.30952	L	-0.86	0.74477	T	-0.93	0.24898	N	0.107	0.09207	-0.9526	0.40520	T	0.224	0.58818	T	9	0.03333193	0.01506	T	0.108152	0.78456	D	0.119	0.33137	.	.	0.534620942121	0.53112	0.3405581504927841	0.33968	0.264381924964	0.28988	0.523433029652	0.42109	T	0.186415	0.53970	T	-0.403266	0.02204	T	-0.467609	0.25774	T	0.0193289380663056	0.00638	T	0.672833	0.28129	T	0.03064894	0.02764	0.05480187	0.09493	0.03064894	0.02763	0.05480187	0.09493	-5.667	0.43399	T	.	.	0.084	0.09530	B	.	.	0.918778	0.12937	9.444	0.95385842083683514	0.26818	0.01012	0.03817	N	AEFDBI	0.040788	0.06114	N	-1.25815061001114	0.04194	0.1887897	-1.33778116363578	0.03952	0.1854133	8.91282890064773E-5	0.04703	0.446893	0.09132	0	0.563428	0.19063	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	3.48	-0.747	0.10532	-0.285000	0.08444	-0.972000	0.06742	-1.690000	0.00773	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.4827:0.0:0.5173	6.473	0.21220	986	0.02773	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	1853.83	39	chr8	142917776	.	C	T	1853.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=3.21;DP=492;ExcessHet=0;FS=0.567;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.9;ReadPosRankSum=-0.675;SOR=0.642	GT:AD:DP:GQ:PL	0/1:98,72:170:99:1864,0,2357	5	0	1	0
chr8	143726692	143726724	CCTGCGCTCCGGCACGGGGGGCACCGGACTACC	-	exonic	FAM83H	.	nonframeshift deletion	FAM83H:NM_198488:exon5:c.2737_2769del:p.G913_R923del	Amelogenesis imperfecta, type III, Autosomal dominant	0	1512	2	0	8	10	0.000660939	.	.	.	3226619	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	.	.	0.0869	.	0.0008	0	0.0003	0.0002	0	0.0003	0	0.0036	.	.	.	rs782137070	0.0004	0.0004	0.0003	0.0006	0.0034	0.0004	0.0004	0.0031	0.0030	6.046e-05	0.0002	0	7.589e-05	2.144e-05	0.0023	0.0002	0.0006	0.0034	0.0002	0.0002	0.0002	0.0003	0.0021	0.0002	0.0001	0.0011	0.0009	0.0001	0	0.0003	0	0.0002	0	0	0.0002	0.0005	0.0021	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	1648.79	35	chr8	143726691	.	TCCTGCGCTCCGGCACGGGGGGCACCGGACTACC	T	1648.79	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.539;DP=298;ExcessHet=0;FS=5.924;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=20.87;ReadPosRankSum=2.38;SOR=0.36	GT:AD:DP:GQ:PL	0/1:36,43:79:99:1659,0,1325	5	0	1	0
chr8	143728452	143728452	C	T	exonic	FAM83H	.	nonsynonymous SNV	FAM83H:NM_198488:exon5:c.G1009A:p.G337S	Amelogenesis imperfecta, type III, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.111	0.0505205386741	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	3.42e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	6.562e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.325	0.13349	T	0.857	0.03438	T	0.296	0.32457	B	0.041	0.23986	B	0.019704	0.27197	N	0.240338	0.923769	0.36756	D	0.46	0.12951	N	2.41	0.15492	T	-1.37	0.33998	N	0.404	0.44474	-1.0267	0.21527	T	0.018	0.07470	T	10	0.08908826	0.15401	T	0.050521	0.64278	D	0.111	0.31313	0.141	0.04462	0.117191471859	0.11215	0.5518544722246911	0.55111	0.743732488609	0.63405	0.75629734993	0.75379	T	0.011102	0.09952	T	-0.152081	0.27988	T	-0.456231	0.27012	T	0.493790090084076	0.32402	T	.	.	.	0.08012984	0.18344	0.15430199	0.36221	0.08012984	0.18344	0.15430199	0.36220	-4.884	0.35555	T	.	.	0.096	0.15564	B	.	.	2.651308	0.34524	19.65	0.9967646950455632	0.78977	0.55852	0.29968	D	AEFDBCI	0.208385	0.33447	N	-0.295712433790127	0.29314	1.624471	-0.101078084642279	0.35348	2.043917	0.99999318003485	0.74766	0.718356	0.82227	0	0.588066	0.40923	0	0.570548	0.19454	0	0.562822	0.20929	0	.	.	4.85	4.85	0.62375	1.030000	0.29760	.	.	0.585000	0.30472	0.688000	0.28513	1.000000	0.68203	0.977000	0.56843	0.0:0.891:0.0:0.109	8.950	0.34941	884	0.28482	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	301.83	43	chr8	143728452	.	C	T	301.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.678;DP=184;ExcessHet=0;FS=1.398;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=9.74;ReadPosRankSum=0.636;SOR=0.425	GT:AD:DP:GQ:PL	0/1:17,14:31:99:312,0,375	5	0	1	0
chr8	143865396	143865396	C	A	exonic	EPPK1	.	stopgain	EPPK1:NM_031308:exon2:c.G7858T:p.E2620X	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.225e-06	2.661e-05	0	7.669e-06	6.336e-05	0	0	.	.	0	0	0	0	0	0	0	0	6.336e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	0.02179	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.	.;.	4.924011	0.81125	27.5	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.117000	0.10681	.	.	0.504000	0.22967	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	.	.	.	964	0.07719	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1	31.53	.	chr8	143865396	.	C	A	31.53	.	AC=1;AF=0.1;AN=10;BaseQRankSum=-0.967;DP=23;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.1;MQ=52.75;MQRankSum=0.967;QD=10.51;ReadPosRankSum=0.967;SOR=0.223	GT:AD:DP:GQ:PL	0/1:1,2:3:26:40,0,26	4	0	1	1
chr8	144238834	144238834	G	C	exonic	MROH1	.	nonsynonymous SNV	MROH1:NM_001288814:exon14:c.G1417C:p.V473L,MROH1:NM_032450:exon15:c.G1417C:p.V473L	.	420	1101	1	0	0	1	0.000453926	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.057	0.0111449406992	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1009164688	0.0002	0.0002	9.19e-05	0.0002	0.0014	0.0001	0.0001	0.0012	0.0011	0	0	0	0	0	0	8.574e-06	0.0002	0.0014	5.252e-05	5.249e-05	1.285e-05	9.398e-05	0.0014	2.555e-05	1.829e-05	0.0007	0.0005	0	0	6.531e-05	0	0	0	0	0	0	0.0014	0.22	0.20078	T	0.131	0.34596	T	0.595	0.39190	P	0.079	0.28749	B	0.364089	0.13626	U	0.618824	0.936342	0.26920	N	0.945	0.23706	L	3.08	0.08460	T	-0.87	0.23590	N	0.16	0.17828	-0.9222	0.45252	T	0.009	0.03271	T	10	0.059112012	0.07055	T	0.011145	0.28456	T	0.057	0.16321	0.49	0.57573	0.043077524339	0.03247	0.30422064579376284	0.30335	0.211007222213	0.23601	0.559037387371	0.47132	T	0.011113	0.09959	T	-0.293137	0.09323	T	-0.658847	0.08344	T	0.103408798575401	0.12728	T	0.809719	0.46038	T	0.04221302	0.06361	0.05769873	0.10533	0.04221302	0.06361	0.05769873	0.10533	-4.638	0.32646	T	.	.	0.134	0.35267	B	.;.;.	.;.;.	1.081882	0.14648	11.21	0.97872184978455457	0.36540	0.46036	0.27671	N	AEFGI	0.097337	0.19635	N	-0.658586372237387	0.17211	0.8836776	-0.567619615442573	0.20339	1.095405	3.30364058440315E-5	0.03775	0.693126	0.56070	0	0.659464	0.62310	0	0.659464	0.59346	0	0.668105	0.65232	0	.	.	4.2	0.042	0.13533	0.700000	0.25278	2.066000	0.30419	0.604000	0.46097	0.997000	0.40164	1.000000	0.68203	0.903000	0.43903	0.4765:0.2068:0.3166:0.0	3.475	0.07146	940	0.13648	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	1296.83	34	chr8	144238834	.	G	C	1296.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.33;DP=298;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.37;ReadPosRankSum=0.585;SOR=0.702	GT:AD:DP:GQ:PL	0/1:70,55:125:99:1307,0,1721	5	0	1	0
chr8	144506731	144506731	G	C	exonic	GPT	.	nonsynonymous SNV	GPT:NM_005309:exon10:c.G1288C:p.E430Q,GPT:NM_001382664:exon11:c.G1288C:p.E430Q,GPT:NM_001382665:exon11:c.G1288C:p.E430Q	.	361	1159	2	0	0	2	0.000862069	0.9994	0.97	.	722953	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.267	.	0.0016	0.00119808	0.0042	0.0007	0.0005	0	0.0345	0.0045	0.0132	0.0002	0.0033182	513	154602	rs141505249	0.0027	0.0028	0.0028	0.0027	0.0029	0.0027	0.0026	0.0019	0.0019	0.0006	0.0006	0.0018	0	0.0291	0.0029	0.0020	0.0027	0.0004	0.0036	0.0036	0.0025	0.0047	0.0028	0.0033	0.0032	0.0025	0.0024	0.0003	0	0.0005	0.0023	0	0.0299	0.0102	0.0028	0.0024	0	0.217	0.19157	T	0.46	0.12597	T	0.152	0.28062	B	0.063	0.27082	B	0.003142	0.35359	N	0.270337	1	0.81001	D	1.24	0.30952	L	-2.66	0.90272	D	-0.56	0.17003	N	0.369	0.41063	-0.2006	0.77656	T	0.460	0.79055	T	9	0.006096512	0.00137	T	.	.	.	0.267	0.58126	.	.	0.877679714183	0.87648	0.6781288127690981	0.67751	0.0727935299996	0.08157	0.520881891251	0.41750	T	0.256475	0.62739	T	-0.358439	0.04219	T	-0.2907	0.45700	T	0.0107655674039457	0.00152	T	0.771423	0.40183	T	0.12665194	0.29659	0.06899347	0.14481	0.12665194	0.29659	0.06899347	0.14481	-3.157	0.11963	T	.	.	0.068	0.02733	B	.;.	.;.	6.015684	0.94348	34	0.99696113124538155	0.80316	0.91933	0.54578	D	AEFBCI	0.929443	0.91520	D	-0.011478143903325	0.41335	2.470638	0.132137555442886	0.46203	2.870084	0.999999999998892	0.74766	0.660377	0.49826	0	0.694456	0.67091	0	0.576033	0.28219	0	0.562822	0.20929	0	.	.	4.54	4.54	0.55220	1.772000	0.38182	11.444000	0.92776	0.676000	0.76740	0.999000	0.42656	1.000000	0.68203	0.805000	0.37950	0.0:0.0:1.0:0.0	14.779	0.69377	900	0.24599	Aminotransferase, class I/classII;Aminotransferase, class I/classII	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.002020	0.005102	0.002725	0.000000	0.000000	0.000000	0.003067	0.000000	0.08333	798.83	35	chr8	144506731	.	G	C	798.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.211;DP=204;ExcessHet=0;FS=1.488;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=21.59;ReadPosRankSum=0.205;SOR=0.407	GT:AD:DP:GQ:PL	0/1:10,27:37:99:809,0,244	5	0	1	0
chr8	144506797	144506797	G	C	exonic	GPT	.	nonsynonymous SNV	GPT:NM_005309:exon10:c.G1354C:p.V452L,GPT:NM_001382664:exon11:c.G1354C:p.V452L,GPT:NM_001382665:exon11:c.G1354C:p.V452L	.	379	1141	2	0	0	2	0.000875657	.	.	.	722954	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.275	.	0.0016	0.00119808	0.0039	0.0006	0.0004	0	0.0284	0.0040	0.0118	0.0002	0.0034023	526	154602	rs147998249	0.0028	0.0028	0.0028	0.0027	0.0029	0.0027	0.0027	0.0019	0.0019	0.0005	0.0006	0.0018	0	0.0293	0.0029	0.0020	0.0027	0.0004	0.0036	0.0036	0.0025	0.0046	0.0028	0.0033	0.0032	0.0025	0.0024	0.0002	0	0.0005	0.0023	0	0.0297	0.0102	0.0028	0.0024	0	0.002	0.72154	D	0.005	0.72224	D	0.622	0.39964	P	0.208	0.37221	B	0.000000	0.84330	D	0.000000	1	0.81001	D	3.105	0.87672	M	1.87	0.24085	T	-2.5	0.54382	D	0.645	0.65673	-0.7586	0.57482	T	0.089	0.34353	T	10	0.013264388	0.00282	T	.	.	.	0.275	0.59130	0.697	0.83406	0.464870050199	0.46114	0.9530430997849433	0.95288	0.157094954455	0.17741	0.713375151157	0.69082	T	0.650717	0.89398	D	-0.299421	0.08715	T	-0.205925	0.54084	T	0.0380550081823921	0.03341	T	0.978302	0.92360	D	0.5789397	0.71550	0.589173	0.76166	0.5789397	0.71551	0.589173	0.76167	-8.691	0.65687	D	.	.	0.866	0.80700	P	.;.	.;.	3.495789	0.48888	22.7	0.99735468936568328	0.83119	0.94852	0.62553	D	AEFBCI	0.957155	0.97616	D	0.457089573313862	0.64607	4.719015	0.428295564341139	0.63333	4.565122	0.999999999998892	0.74766	0.660377	0.49826	0	0.694456	0.67091	0	0.603688	0.36954	0	0.604944	0.38103	0	.	.	4.54	4.54	0.55220	4.709000	0.61556	9.538000	0.80958	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.576000	0.30797	0.0:0.0:1.0:0.0	14.779	0.69377	900	0.24599	Aminotransferase, class I/classII;Aminotransferase, class I/classII	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.002518	0.010101	0.002725	0.000000	0.000000	0.000000	0.003049	0.000000	0.08333	1337.83	35	chr8	144506797	.	G	C	1337.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.071;DP=252;ExcessHet=0;FS=2.168;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=18.84;ReadPosRankSum=0.591;SOR=0.47	GT:AD:DP:GQ:PL	0/1:22,49:71:99:1348,0,569	5	0	1	0
chr8	144516364	144516364	G	A	exonic	RECQL4	.	nonsynonymous SNV	RECQL4:NM_004260:exon5:c.C755T:p.P252L	Baller-Gerold syndrome, Autosomal recessive;RAPADILINO syndrome, Autosomal recessive;Rothmund-Thomson syndrome, Autosomal recessive	0	1507	15	0	0	15	0.00495213	.	.	YES	138904	Rapadilino_syndrome|Baller-Gerold_syndrome|not_provided|Rothmund-Thomson_syndrome_type_2|not_specified	MONDO:MONDO:0009955,MedGen:C1849453,OMIM:266280,Orphanet:3021|MONDO:MONDO:0009039,MedGen:C0265308,OMIM:218600,Orphanet:1225|MedGen:C3661900|MONDO:MONDO:0016369,MedGen:C5203410,OMIM:268400,Orphanet:221016|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	.	.	.	0.0115815	0.0064	0	0.0002	0.0004	0	4.799e-05	0.0036	0.0452	0.0052781	816	154602	rs199773279	0.0025	0.0025	0.0014	0.0037	0.0400	0.0025	0.0024	0.0389	0.0384	2.987e-05	2.24e-05	0	0.0001	0	0.0017	4.768e-05	0.0032	0.0400	0.0014	0.0014	0.0007	0.0022	0.0435	0.0013	0.0012	0.0387	0.0368	4.81e-05	0	0	0	0.0004	0	0	5.88e-05	0	0.0435	.	.	.	0.281	0.21612	T	0.011	0.15914	B	0.009	0.14300	B	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.191	0.20925	.	.	.	.	.	.	.	0.005003482	0.00108	T	.	.	.	.	.	.	.	0.704728438482	0.70216	0.19770409038007036	0.19687	.	.	0.27358341217	0.06613	T	0.072523	0.34474	T	-0.384026	0.02938	T	-0.293703	0.45386	T	.	.	.	0.50325	0.15827	T	0.028072616	0.02090	0.060437925	0.11511	0.028262425	0.02136	0.058010142	0.10646	-4.036	0.24341	T	0.25009329278623943	0.33853	0.075	0.05404	B	.	.	0.771992	0.11419	8.029	0.73065840257512249	0.10194	0.08486	0.14409	N	AEFBHCI	0.080413	0.16259	N	.	.	.	.	.	.	0.999371142064224	0.39355	0.256867	0.04430	0	0.194	0.04241	0	0.320204	0.05785	0	0.186031	0.04203	0	.	.	5.04	-0.014	0.13306	0.618000	0.24068	1.953000	0.29896	-0.106000	0.15538	0.000000	0.06391	0.013000	0.20296	0.028000	0.12845	0.3206:0.1336:0.5458:0.0	5.574	0.16498	900	0.24599	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.005539	0.000000	0.000000	0.000000	0.000000	0.000000	0.006098	0.015152	0.08333	1556.83	122	chr8	144516364	.	G	A	1556.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.197;DP=560;ExcessHet=0;FS=3.444;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.78;ReadPosRankSum=-1.82;SOR=1.024	GT:AD:DP:GQ:PL	0/1:54,59:113:99:1567,0,1398	5	0	1	0
chr8	144932107	144932107	C	T	exonic	ZNF16	.	nonsynonymous SNV	ZNF16:NM_006958:exon3:c.G680A:p.R227H,ZNF16:NM_001029976:exon4:c.G680A:p.R227H	.	415	1106	1	0	0	1	0.000451875	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.059	.	0.0035	0.00519169	0.0012	0.0107	0.0007	0.0015	0	0.0001	0.0011	0	0.0011513	178	154602	rs3735786	0.0004	0.0004	0.0005	0.0004	0.0084	0.0004	0.0004	0.0076	0.0072	0.0084	0.0005	0	0.0049	1.873e-05	0.0002	6.115e-05	0.0007	8.117e-05	0.0026	0.0027	0.0027	0.0026	0.0088	0.0024	0.0023	0.0081	0.0078	0.0088	0	0.0014	0	0.0021	0	0	2.94e-05	0.0009	0	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	0.999502	0.21084	N	-3.29	0.00006	N	3.6	0.04494	T	5.41	0.00016	N	0.084	0.06059	-0.9599	0.39199	T	0.002	0.00497	T	9	0.0046982765	0.00099	T	.	.	.	0.059	0.16972	.	.	0.136095386433	0.13204	0.05321598686000942	0.05263	0.0904167817641	0.10200	0.494114369154	0.38011	T	0.024913	0.18734	T	-0.703014	0.00035	T	-0.774645	0.02618	T	0.00537902858131219	0.00058	T	0.181182	0.01822	T	0.019252498	0.00453	0.041308478	0.04664	0.019252498	0.00453	0.041308478	0.04664	1.335	0.00096	T	.	.	0.073	0.05017	B	.;.;.	.;.;.	-0.482388	0.01923	0.162	0.11711865641006632	0.00184	0.01639	0.05276	N	AEFDGBHI	0.017661	0.00479	N	-1.52948560234588	0.01658	0.07254862	-1.28783669248074	0.04594	0.2170697	0.79373137816891	0.24060	0.651	0.46895	0	0.653731	0.59785	0	0.65145	0.50148	0	0.674467	0.66132	0	.	.	4.01	2.84	0.32241	0.704000	0.25336	0.093000	0.14542	-1.545000	0.00970	0.032000	0.20554	0.237000	0.23824	0.022000	0.11911	0.0:0.0956:0.0:0.9044	8.634	0.33098	774	0.48577	Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1510.83	37	chr8	144932107	.	C	T	1510.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.336;DP=311;ExcessHet=0;FS=1.436;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.38;ReadPosRankSum=0.228;SOR=0.565	GT:AD:DP:GQ:PL	0/1:60,62:122:99:1521,0,1504	5	0	1	0
chr9	117371	117371	C	0	exonic	FOXD4	.	.	.	.	494	340	430	130	128	818	0.50365	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	576.35	25	chr9	117371	.	C	*	576.35	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.56;DP=160;ExcessHet=0.1336;FS=0.979;MLEAC=1;MLEAF=0.083;MQ=49.09;MQRankSum=-3.153;QD=9.3;ReadPosRankSum=-0.221;SOR=0.626	GT:AD:DP:GQ:PL	0/1:0,8:14:99:542,213,208	5	0	1	0
chr9	32634813	32634813	C	G	exonic	TAF1L	.	nonsynonymous SNV	TAF1L:NM_153809:exon1:c.G767C:p.G256A	.	1	1509	12	0	0	12	0.0039604	.	.	.	2828838	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.092	.	0.0056	0.00339457	0.0068	0.0013	0.0010	0	0.0259	0.0086	0.0132	0.0030	0.0066687	1031	154602	rs55991718	0.0076	0.0076	0.0077	0.0076	0.0080	0.0075	0.0075	0.0079	0.0078	0.0014	0.0015	0.0031	2.519e-05	0.0253	0.0021	0.0080	0.0055	0.0040	0.0068	0.0068	0.0061	0.0076	0.0090	0.0065	0.0063	0.0085	0.0082	0.0015	0	0.0016	0.0063	0	0.0266	0	0.0090	0.0052	0.0042	0.028	0.46129	D	0.037	0.51737	D	0.151	0.28027	B	0.04	0.23831	B	0.000000	0.84330	N	0.052112	0.999667	0.48141	D	2.455	0.71248	M	3.02	0.08986	T	-3.29	0.65742	D	0.29	0.32812	-1.0664	0.10223	T	0.012	0.04747	T	10	0.006072521	0.00136	T	.	.	.	0.092	0.26621	.	.	0.411001663086	0.40716	0.36905587412701624	0.36819	0.173944268882	0.19586	0.420082181692	0.27847	T	0.238464	0.60636	T	-0.556626	0.00266	T	-0.56437	0.15969	T	0.0595602123796396	0.07099	T	0.970703	0.89491	D	0.25123996	0.48131	0.20725717	0.44977	0.25123996	0.48131	0.20725717	0.44976	-11.734	0.83532	D	.	.	0.295	0.52582	B	.	.	3.265755	0.44684	22.0	0.96158345794661948	0.28890	0.74270	0.36330	D	AEFDGBI	0.395272	0.47220	N	-0.291553724954087	0.29472	1.634758	-0.320175729517094	0.27448	1.523109	0.992585134461447	0.32893	0.638212	0.43195	0	0.670034	0.63936	0	0.602189	0.34648	0	0.567892	0.33627	0	.	.	1.04	1.04	0.19220	5.212000	0.65058	7.398000	0.58557	0.243000	0.18268	1.000000	0.71638	1.000000	0.68203	0.925000	0.46118	0.0:1.0:0.0:0.0	7.486	0.26601	834	0.38640	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.001511	0.005051	0.002717	0.000000	0.000000	0.000000	0.000000	0.000000	0.08333	4169.83	34	chr9	32634813	.	C	G	4169.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.07;DP=461;ExcessHet=0;FS=0.451;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=15.85;ReadPosRankSum=-0.271;SOR=0.649	GT:AD:DP:GQ:PL	0/1:119,144:263:99:4180,0,3192	5	0	1	0
chr9	37440831	37440831	C	A	exonic	ZBTB5	.	nonsynonymous SNV	ZBTB5:NM_014872:exon2:c.G1721T:p.G574V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.167	0.00558279631767	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.84e-07	6.84e-07	1.361e-06	0	8.993e-07	0	0	.	.	0	0	0	0	0	0	8.993e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.057	0.46406	T	0.241	0.30888	B	0.172	0.35394	B	0.003741	0.34560	N	0.305954	1	0.81001	D	0.895	0.22405	L	2.83	0.10771	T	-0.62	0.18248	N	0.3	0.33904	-1.0118	0.26353	T	0.024	0.10103	T	10	0.0999479	0.18170	T	0.005583	0.14409	T	0.167	0.42761	0.231	0.15855	0.0675242888579	0.06100	0.47770088062735766	0.47690	0.37845524719	0.39259	0.354770451784	0.18622	T	0.00536	0.04811	T	-0.104952	0.35602	T	-0.388533	0.34724	T	0.441067308187485	0.30469	T	0.843016	0.51993	T	0.26031217	0.49087	0.2181716	0.46511	0.26031217	0.49087	0.2181716	0.46510	-4.444	0.30149	T	.	.	0.204	0.42934	B	.	.	2.540703	0.32863	19.17	0.97427501033974839	0.33911	0.92047	0.54827	D	AEFGBCI	0.335346	0.43382	N	-0.313904277725382	0.28618	1.580056	-0.205184775038109	0.31348	1.773324	0.999999988545353	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.636168	0.56350	0	.	.	5.35	4.43	0.52967	1.658000	0.36992	2.767000	0.34644	0.599000	0.40250	0.491000	0.26886	0.990000	0.31317	0.999000	0.91618	0.0:0.8629:0.1371:0.0	15.723	0.77494	509	0.75304	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1849.83	33	chr9	37440831	.	C	A	1849.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.988;DP=310;ExcessHet=0;FS=1.362;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.8;ReadPosRankSum=0.105;SOR=0.572	GT:AD:DP:GQ:PL	0/1:60,74:134:99:1860,0,1593	5	0	1	0
chr9	38396394	38396394	C	G	exonic	ALDH1B1	.	nonsynonymous SNV	ALDH1B1:NM_000692:exon2:c.C646G:p.L216V	.	416	1105	1	0	0	1	0.000452284	.	.	.	211388	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.620	0.0373720171857	.	0.00159744	0.0011	0	8.655e-05	0	0	0	0	0.0078	0.000912	141	154602	rs200322513	0.0004	0.0004	0.0002	0.0007	0.0068	0.0004	0.0004	0.0064	0.0062	0	0	0	0	0	0.0003	2.248e-05	0.0003	0.0068	0.0003	0.0003	0.0001	0.0004	0.0081	0.0002	0.0002	0.0061	0.0054	0	0	0	0	0	0	0	1.47e-05	0	0.0081	0.001	0.78490	D	0.001	0.83351	D	.	.	.	.	.	.	0.001537	0.38731	N	0.110753	0.999361	0.46798	D	.	.	.	-1.21	0.78645	T	-2.74	0.58248	D	0.561	0.58543	0.324	0.87935	D	0.616	0.86422	D	10	0.048122317	0.04220	T	0.037372	0.57578	D	0.620	0.85249	0.893	0.97460	0.764114882311	0.76196	0.5739929524803189	0.57328	0.15587858973	0.17597	0.421870291233	0.28093	T	.	.	.	-0.262812	0.12574	T	-0.146283	0.59572	T	0.239840816622253	0.22412	T	0.978102	0.92255	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.227	0.45859	B	.	.	2.620403	0.34050	19.52	0.99624037363997231	0.75594	0.84213	0.43296	D	AEFBCI	0.464470	0.51295	N	0.392060159253133	0.60990	4.29445	0.264076115067921	0.53455	3.514284	0.999997637655187	0.74766	0.719381	0.83141	0	0.723133	0.82719	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.51	4.61	0.56724	2.689000	0.46660	0.838000	0.22015	0.599000	0.40250	0.985000	0.35982	0.001000	0.17328	0.325000	0.25087	0.0:0.9168:0.0:0.0832	12.175	0.53488	835	0.38313	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.000000	0.08333	1282.83	115	chr9	38396394	.	C	G	1282.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-3.19;DP=634;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.23;ReadPosRankSum=1.86;SOR=0.63	GT:AD:DP:GQ:PL	0/1:44,53:97:99:1293,0,1196	5	0	1	0
chr9	41127944	41127944	C	A	exonic	FOXD4L6	.	nonsynonymous SNV	FOXD4L6:NM_001085476:exon1:c.G440T:p.R147L	.	918	595	5	4	0	13	0.0108063	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.594	0.0482814857573	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1246870379	0.0035	0.0033	0.0029	0.0042	0.0164	0.0034	0.0034	0.0154	0.0151	0.0003	0.0017	0.0040	3.266e-05	0.0019	0.0118	0.0026	0.0037	0.0164	0.0021	0.0022	0.0015	0.0028	0.0116	0.0016	0.0015	0.0040	0.0024	0.0007	0	0.0018	0.0044	0	0.0032	0	0.0023	0	0.0116	.	.	.	0.011	0.64786	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.319	0.35938	.	.	.	.	.	.	.	0.45334756	0.58837	T	.	.	.	.	.	.	.	.	.	0.09492818859971522	0.09424	.	.	.	.	.	0.648786	0.89317	D	.	.	.	.	.	.	.	.	.	0.948605	0.80233	D	.	.	.	.	.	.	.	.	-5.084	0.37738	T	.	.	0.434	0.61403	A	.	.	4.560097	0.71854	25.7	.	.	.	.	.	.	0.549307	0.56224	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.736000	0.37811	2.496000	0.33006	0.284000	0.18682	1.000000	0.71638	1.000000	0.68203	0.990000	0.65344	.	.	.	994	0.00715	Fork head domain|Fork head domain|Fork head domain|Fork head domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	56.13	6	chr9	41127944	.	C	A	56.13	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.19;DP=30;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=24.51;MQRankSum=-0.842;QD=8.02;ReadPosRankSum=-1.718;SOR=0.495	GT:AD:DP:GQ:PL	0/1:4,3:7:66:66,0,97	5	0	1	0
chr9	81990832	81990832	G	A	exonic	SPATA31D1	.	nonsynonymous SNV	SPATA31D1:NM_001001670:exon4:c.G362A:p.R121H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.186	0.00109414809706	.	.	1.753e-05	0.0001	0	0	0	1.575e-05	0	0	1.29e-05	2	154602	rs267602287	2.874e-05	2.941e-05	3.812e-05	1.926e-05	0.0003	2.152e-05	1.908e-05	6.092e-05	2.521e-05	5.974e-05	2.237e-05	0	2.519e-05	0	0.0003	3.058e-05	1.656e-05	1.16e-05	3.946e-05	3.941e-05	2.57e-05	5.386e-05	7.244e-05	1.716e-05	1.13e-05	1.921e-05	1.032e-05	7.244e-05	0	0	0	0	0	0	4.411e-05	0	0	0.074	0.34621	T	0.122	0.35710	T	0.947	0.53479	P	0.251	0.39041	B	0.275139	0.15052	N	0.558816	1	0.08975	N	0.65	0.16133	N	2.77	0.11407	T	-1.89	0.44094	N	0.158	0.16447	-0.9531	0.40433	T	0.009	0.03403	T	10	0.102504015	0.18792	T	0.001094	0.01287	T	0.186	0.46104	0.46	0.52753	0.216624796971	0.21254	0.029737598722136136	0.02922	.	.	0.514076173306	0.40793	T	0.020793	0.16305	T	-0.410315	0.01978	T	-0.590497	0.13623	T	0.208477631211281	0.20874	T	0.643236	0.25495	T	0.02562927	0.01522	0.03014689	0.01435	0.02562927	0.01522	0.03014689	0.01435	-5.645	0.43201	T	.	.	0.121	0.25166	B	.	.	0.566720	0.09351	6.133	0.99168051504588162	0.54298	0.08985	0.14829	N	AEFI	0.034953	0.04417	N	-0.871296784153834	0.11529	0.5568631	-0.991578917650787	0.09973	0.4994372	1.88131626009975E-5	0.02871	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	2.89	-1.54	0.08130	0.518000	0.22554	-8.847000	0.00904	-0.281000	0.06419	0.086000	0.22486	0.000000	0.08366	0.001000	0.02609	0.3792:0.0:0.4206:0.2002	2.857	0.05232	922	0.19044	Domain of unknown function DUF4599	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	2630.83	101	chr9	81990832	.	G	A	2630.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.32;DP=481;ExcessHet=0;FS=0.497;MLEAC=1;MLEAF=0.083;MQ=59.92;MQRankSum=0.995;QD=12.24;ReadPosRankSum=1.81;SOR=0.641	GT:AD:DP:GQ:PL	0/1:109,106:215:99:2641,0,2599	5	0	1	0
chr9	92080918	92080918	G	C	exonic	SPTLC1	.	nonsynonymous SNV	SPTLC1:NM_001281303:exon4:c.C306G:p.N102K,SPTLC1:NM_006415:exon4:c.C306G:p.N102K,SPTLC1:NM_178324:exon4:c.C306G:p.N102K	Neuropathy, hereditary sensory and autonomic, type IA, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.845	0.399896509883	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0011	0.0068	0.0012	0.0010	0.0013	0.0011	0.0010	0.0013	0.0012	0.0012	4.477e-05	0.0003	0.0002	1.873e-05	0.0009	0.0013	0.0009	0.0003	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.91255	D	0.005	0.92824	D	1.0	0.90584	D	0.997	0.86255	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.83	0.95627	H	-3.73	0.95458	D	-5.47	0.87143	D	0.946	0.96984	1.004	0.97255	D	0.941	0.98064	D	10	0.97626525	0.97408	D	0.399897	0.93374	D	0.845	0.95175	0.798	0.91802	0.945416172085	0.94484	0.9614716476571766	0.96133	1.13632118652	0.78799	0.737543225288	0.72611	T	0.97255	0.99710	D	0.219858	0.75763	D	0.0780339	0.75447	D	0.995089709758759	0.86803	D	0.978602	0.92442	D	0.9519136	0.96460	0.8880654	0.94130	0.9519136	0.96460	0.8880654	0.94130	-14.216	0.93737	D	0.860758186576928	0.92428	0.988	0.93037	P	.;.	.;.	4.020987	0.59386	24.1	0.9926344721683531	0.57289	0.83408	0.42527	D	AEFBI	0.256177	0.37516	N	0.211284656944223	0.51746	3.353416	0.0637648407406021	0.42742	2.59063	0.00398181740670549	0.10368	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.0	2.15	0.26590	1.717000	0.37612	4.300000	0.42938	-0.106000	0.15538	1.000000	0.71638	1.000000	0.68203	0.990000	0.65344	0.3508:0.0:0.6492:0.0	10.600	0.44552	892	0.26670	Aminotransferase, class I/classII;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	3429.55	310	chr9	92080918	.	G	C	3429.55	.	AC=6;AF=0.5;AN=12;BaseQRankSum=-3.955;DP=2102;ExcessHet=11.5949;FS=412.655;MLEAC=6;MLEAF=0.5;MQ=60;MQRankSum=0;QD=1.83;ReadPosRankSum=1.44;SOR=13.596	GT:AD:DP:GQ:PL	0/1:213,132:364:99:675,0,3611	0	0	6	0
chr9	98784846	98784846	T	C	exonic	ANKS6	.	nonsynonymous SNV	ANKS6:NM_173551:exon3:c.A893G:p.H298R	Nephronophthisis 16, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.293	0.0186646968526	.	.	8.311e-06	0	0	0	0	1.502e-05	0	0	6.5e-06	1	154602	rs752544013	3.422e-06	3.42e-06	2.724e-06	4.128e-06	3.598e-06	1e-06	7.3e-07	8.4e-07	5.7e-07	0	0	0	0	0	0	3.598e-06	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.275	0.15770	T	0.021	0.58089	D	0.96	0.55278	D	0.832	0.59730	P	0.000033	0.55875	D	0.192689	0.743718	0.81001	D	-0.575	0.02294	N	-0.09	0.64086	T	-2.77	0.58733	D	0.638	0.65074	-0.6364	0.63299	T	0.209	0.56839	T	10	0.57216805	0.65380	D	0.018665	0.40809	T	0.293	0.61272	0.504	0.59770	0.671516610661	0.66874	0.533078520538107	0.53232	0.144789491549	0.16360	0.670108616352	0.62853	T	0.047107	0.27625	T	0.0960861	0.63867	D	-0.0997555	0.63416	T	0.718621730804443	0.41629	D	0.818618	0.47570	T	0.26143122	0.49202	0.20693853	0.44931	0.26143122	0.49202	0.20693853	0.44930	-11.02	0.79768	D	.	.	0.15	0.33156	B	.	.	3.900689	0.56818	23.8	0.99309330946952967	0.58943	0.91794	0.54277	D	AEFDBI	0.478692	0.52115	N	0.322027162867507	0.57281	3.894841	0.387909125796852	0.60818	4.27388	0.999999879665554	0.74766	0.732398	0.92422	0	0.588015	0.36545	0	0.743671	0.96076	0	0.613276	0.41899	0	.	.	5.14	5.14	0.70008	4.766000	0.61975	7.835000	0.70278	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:0.0:1.0	13.197	0.59169	786	0.46839	Ankyrin repeat-containing domain|Ankyrin repeat-containing domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.002717	0.000000	0.000000	0.000000	0.000000	0.000000	0.08333	856.83	36	chr9	98784846	.	T	C	856.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.535;DP=233;ExcessHet=0;FS=1.01;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.52;ReadPosRankSum=-0.381;SOR=0.736	GT:AD:DP:GQ:PL	0/1:23,36:59:99:867,0,465	5	0	1	0
chr9	99067046	99067046	C	A	exonic	COL15A1	.	nonsynonymous SNV	COL15A1:NM_001855:exon40:c.C3816A:p.S1272R	.	433	1088	1	0	0	1	0.000459348	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.122	0.0115175452105	.	.	1.657e-05	0	0	0	0	3.009e-05	0	0	1.29e-05	2	154602	rs768918828	3.421e-06	3.42e-06	1.362e-06	5.502e-06	0.0002	1e-06	7.3e-07	7.2e-07	2e-07	0	0	0	0	0	0.0002	2.698e-06	0	1.16e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.077	0.34095	T	0.026	0.55759	D	0.914	0.50529	P	0.367	0.43430	B	0.002224	0.36970	N	0.352946	0.965128	0.25952	N	1.43	0.35840	L	0.96	0.42888	T	-2.9	0.60827	D	0.304	0.44474	-0.9527	0.40503	T	0.095	0.35950	T	10	0.22438735	0.39241	T	0.011518	0.29227	T	0.122	0.33800	0.545	0.65873	0.604137120487	0.60097	0.5154898385877771	0.51471	0.194765962238	0.21814	0.350422799587	0.17984	T	0.156458	0.49864	T	-0.155951	0.27384	T	-0.446304	0.28105	T	0.859438061714172	0.51000	D	0.724828	0.33863	T	0.22720607	0.45416	0.2868767	0.54697	0.22720607	0.45416	0.2868767	0.54697	-6.553	0.50694	T	.	.	0.373	0.58029	A	.;.	.;.	3.570538	0.50282	22.9	0.9956031756779915	0.71707	0.58336	0.30615	D	AEFDGBI	0.423279	0.48893	N	0.0993607920470541	0.46431	2.883676	0.11200600240932	0.45162	2.784289	0.999999709708993	0.74766	0.487112	0.14033	0	0.547309	0.14657	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	5.96	5.06	0.67838	0.534000	0.22807	2.757000	0.34577	0.599000	0.40250	0.052000	0.21487	0.999000	0.35428	0.998000	0.85391	0.0:0.7722:0.0:0.2278	8.508	0.32358	824	0.40336	Collagenase NC10/endostatin|Collagenase NC10/endostatin;Collagenase NC10/endostatin|Collagenase NC10/endostatin	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	826.83	33	chr9	99067046	.	C	A	826.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.31;DP=254;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.74;ReadPosRankSum=-0.913;SOR=0.657	GT:AD:DP:GQ:PL	0/1:40,37:77:99:837,0,848	5	0	1	0
chr9	106974250	106974250	T	C	exonic	ZNF462	.	nonsynonymous SNV	ZNF462:NM_001347997:exon9:c.T4214C:p.I1405T,ZNF462:NM_021224:exon9:c.T6809C:p.I2270T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.332	0.0225480179474	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.107	0.29554	T	0.0	0.92824	D	0.998	0.73220	D	0.987	0.77487	D	0.000000	0.84330	D	0.000000	1	0.81001	D	1.575	0.39704	L	3.38	0.05778	T	-0.68	0.36980	N	0.873	0.87049	-1.0740	0.08556	T	0.061	0.25455	T	10	0.3783521	0.54005	T	0.022548	0.45449	T	0.332	0.65424	0.419	0.46036	0.043077524339	0.03247	0.5838881706070325	0.58317	2.02329959298	0.94019	0.924512147903	0.98647	D	0.011805	0.11071	T	0.105501	0.64882	D	-0.0862318	0.64445	T	0.798904538154602	0.46279	D	0.963604	0.86445	D	0.1377539	0.31884	0.16932428	0.38958	0.1377539	0.31884	0.16932428	0.38957	-11.857	0.84147	D	.	.	0.989	0.94382	P	.;.;.	.;.;.	4.830708	0.78774	27.0	0.99799257148110543	0.88461	0.98380	0.82188	D	AEFBI	0.909931	0.86721	D	0.462121070414506	0.64895	4.754563	0.527672054984196	0.69859	5.42084	0.999999998491949	0.74766	0.67177	0.52595	0	0.546412	0.12157	0	0.702456	0.68683	0	0.635551	0.53088	0	.	.	5.66	5.66	0.87293	7.645000	0.82580	6.207000	0.54965	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.988000	0.63387	0.0:0.0:0.0:1.0	15.905	0.79209	677	0.60274	Zinc finger C2H2-type;Zinc finger C2H2-type;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.25	743.02	87	chr9	106974250	.	T	C	743.02	.	AC=3;AF=0.25;AN=12;BaseQRankSum=-3.647;DP=598;ExcessHet=1.383;FS=389.593;MLEAC=3;MLEAF=0.25;MQ=60;MQRankSum=0;QD=1.89;ReadPosRankSum=1.27;SOR=9	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:110,26:136:47:0|1:106974250_T_C:47,0,3554:106974250	3	0	3	0
chr9	106974252	106974252	G	C	exonic	ZNF462	.	nonsynonymous SNV	ZNF462:NM_001347997:exon9:c.G4216C:p.D1406H,ZNF462:NM_021224:exon9:c.G6811C:p.D2271H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.360	0.0471795829052	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	0.53172	D	0.0	0.92824	D	1.0	0.90584	D	0.997	0.86255	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.1	0.58353	M	3.39	0.05710	T	-1.36	0.61580	N	0.875	0.89353	-0.8337	0.53061	T	0.231	0.59645	T	10	0.49586242	0.61262	T	0.04718	0.62801	D	0.360	0.68052	0.394	0.41935	0.147330786459	0.14319	0.7743925162910649	0.77389	1.96447962958	0.93503	0.92381799221	0.98600	D	0.018404	0.22976	T	0.19969	0.73863	D	0.0490645	0.73522	D	0.889481544494629	0.54020	D	0.967503	0.88224	D	0.23358797	0.46165	0.23072106	0.48183	0.23358797	0.46165	0.23072106	0.48182	-14.055	0.93275	D	.	.	0.999	0.98631	P	.;.;.	.;.;.	5.292259	0.88853	29.8	0.99610339763523792	0.74753	0.99345	0.94800	D	AEFBI	0.908733	0.86444	D	0.450547442356911	0.64232	4.673381	0.56578814992134	0.72504	5.820091	0.999999999998965	0.74766	0.67177	0.52595	0	0.546412	0.12157	0	0.702456	0.68683	0	0.635551	0.53088	0	.	.	5.66	5.66	0.87293	9.564000	0.97283	11.869000	0.98523	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.982000	0.59238	0.0:0.0:1.0:0.0	19.759	0.96302	677	0.60274	Zinc finger C2H2-type;Zinc finger C2H2-type;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	734.89	37	chr9	106974252	.	G	C	734.89	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-4.601;DP=532;ExcessHet=1.383;FS=389.593;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=1.87;ReadPosRankSum=1.27;SOR=9	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:110,26:136:47:0|1:106974250_T_C:47,0,3554:106974250	5	0	1	0
chr9	108934490	108934490	G	C	exonic	ABITRAM	.	nonsynonymous SNV	ABITRAM:NM_017832:exon1:c.G4C:p.A2P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.067	0.00549873562115	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.058	0.50676	T	0.088	0.40586	T	0.145	0.27759	B	0.064	0.27215	B	0.324091	0.14222	N	0.700919	0.978351	0.25254	N	0	0.06538	N	.	.	.	-0.43	0.14390	N	0.188	0.26717	-1.0428	0.16473	T	0.050	0.21300	T	9	0.19230625	0.34953	T	0.005499	0.14166	T	0.067	0.19503	0.22	0.14224	0.460795861206	0.45704	0.40657100883816727	0.40573	0.242183988922	0.26734	0.648727655411	0.59806	T	0.03001	0.21373	T	-0.0636714	0.42330	T	-0.329236	0.41554	T	0.162559419870377	0.18058	T	0.556944	0.19352	T	0.14730513	0.33681	0.12140163	0.29291	0.14730513	0.33681	0.12140163	0.29290	-6.802	0.52574	T	.	.	0.161	0.35581	B	.;.	.;.	3.622739	0.51274	23.1	0.9907666533292212	0.51858	0.20279	0.20982	N	ALL	0.188901	0.31617	N	-0.343143748351902	0.27524	1.510842	-0.228814434434539	0.30509	1.718369	0.999999999998808	0.74766	0.468429	0.09910	2	0.504199	0.08210	0	0.504199	0.09095	0	0.372554	0.06265	0	.	.	5.22	0.95	0.18697	0.607000	0.23906	4.723000	0.44515	0.676000	0.76740	0.932000	0.32345	1.000000	0.68203	0.990000	0.65344	0.1744:0.1514:0.5184:0.1558	2.177	0.03629	885	0.28214	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	805.83	36	chr9	108934490	.	G	C	805.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.574;DP=212;ExcessHet=0;FS=1.146;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=15.8;ReadPosRankSum=0.68;SOR=0.529	GT:AD:DP:GQ:PL	0/1:16,35:51:99:816,0,384	5	0	1	0
chr9	109149715	109149715	G	C	exonic	FRRS1L	.	nonsynonymous SNV	FRRS1L:NM_014334:exon2:c.C244G:p.P82A	Epileptic encephalopathy, early infantile, 37, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	2091793	Developmental_and_epileptic_encephalopathy,_37	MONDO:MONDO:0014859,MedGen:C4310770,OMIM:616981	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.303	0.00485802168796	.	.	8.439e-06	0	8.924e-05	0	0	0	0	0	6.5e-06	1	154602	rs761224976	8.924e-06	8.893e-06	1.093e-05	6.895e-06	2.237e-05	4.98e-06	3.84e-06	4.57e-06	3.33e-06	0	2.237e-05	0	0	0	0	9.03e-06	1.661e-05	1.161e-05	6.572e-06	6.567e-06	1.285e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	.	.	.	0.116	0.36497	T	0.999	0.77913	D	0.994	0.82059	D	0.000894	0.41231	U	0.159049	1	0.81001	D	1.845	0.48678	L	.	.	.	.	.	.	0.48	0.51494	-0.5323	0.67454	T	0.274	0.64546	T	9	0.42568034	0.57157	T	0.004858	0.12192	T	.	.	0.411	0.44723	0.721440308683	0.71898	0.5840044807641095	0.58329	0.0826449956307	0.09327	0.904033780098	0.96874	D	0.032282	0.22418	T	0.163474	0.70521	D	0.0799084	0.75572	D	0.532081961631775	0.33811	D	0.776522	0.40874	T	0.12024473	0.28299	0.26876813	0.52750	0.12024473	0.28298	0.26876813	0.52749	-3.907	0.22408	T	.	.	0.213	0.44148	B	.	.	3.803971	0.54833	23.5	0.98874279247962449	0.47702	0.99168	0.92232	D	AEFBI	0.821722	0.74222	D	0.667740078955153	0.77520	6.690721	0.723694364905211	0.84177	8.220144	0.999999999999981	0.74766	0.549168	0.22868	0	0.547309	0.14657	0	0.618467	0.43123	0	0.616125	0.45549	0	.	.	5.79	5.79	0.91751	7.434000	0.79550	9.730000	0.81396	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:1.0:0.0	20.037	0.97560	934	0.15400	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	909.83	35	chr9	109149715	.	G	C	909.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.011;DP=264;ExcessHet=0;FS=0.88;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.37;ReadPosRankSum=0.428;SOR=0.531	GT:AD:DP:GQ:PL	0/1:41,39:80:99:920,0,1013	5	0	1	0
chr9	109320221	109320221	A	C	exonic	EPB41L4B	.	nonsynonymous SNV	EPB41L4B:NM_001385623:exon1:c.T226G:p.S76A,EPB41L4B:NM_018424:exon1:c.T226G:p.S76A,EPB41L4B:NM_019114:exon1:c.T226G:p.S76A	.	.	.	.	.	.	.	.	.	.	.	3242233	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.218	0.931893176239	.	.	0	0	0	0	0	0	0	0	3.84e-05	1	26028	rs763606162	5.632e-05	6.362e-05	4.52e-05	6.784e-05	0.0009	4.552e-05	4.179e-05	0.0004	0.0003	0.0007	5.029e-05	0	0.0001	0	0.0009	3.068e-05	0.0002	5.079e-05	0.0001	0.0001	0.0001	0.0001	0.0001	7.664e-05	6.353e-05	6.962e-05	5.13e-05	0.0001	0	0.0001	0	0	0	0.0034	0.0001	0	0	0.004	0.65419	D	0.02	0.58613	D	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	0.999908	0.19694	N	0.345	0.11182	N	-1.7	0.83157	D	-0.16	0.09460	N	0.178	0.19190	-0.8448	0.52325	T	0.261	0.63197	T	9	0.15308103	0.28903	T	0.931893	0.99508	D	0.218	0.51265	0.446	0.50466	0.128874641272	0.12493	0.1433323694527278	0.14256	1.66441580669	0.89733	0.925073564053	0.98685	D	0.01937	0.15446	T	-0.232003	0.16384	T	-0.355698	0.38551	T	0.0944431409761061	0.11734	T	0.637336	0.30204	T	0.22604382	0.45277	0.099604584	0.23787	0.22604382	0.45277	0.099604584	0.23787	-0.854	0.00851	T	.	.	0.075	0.05491	B	.;.	.;.	3.342548	0.46062	22.2	0.95409948298424962	0.26873	0.48038	0.28117	N	AEFDGBCI	0.096941	0.19561	N	-0.790572863449719	0.13555	0.6685899	-0.743968196055662	0.15871	0.8368371	0.999999978666941	0.74766	0.72623	0.87236	0	0.541168	0.11318	0	0.594344	0.31042	0	0.554799	0.18163	0	.	.	2.94	-1.03	0.09586	3.231000	0.50995	2.446000	0.32792	0.500000	0.22704	1.000000	0.71638	1.000000	0.68203	0.959000	0.51448	0.3492:0.2448:0.406:0.0	3.329	0.06661	867	0.32089	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.003855	0.012500	0.004335	0.000000	0.000000	0.000000	0.003521	0.000000	0.08333	191.83	40	chr9	109320221	.	A	C	191.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.245;DP=145;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.28;ReadPosRankSum=-0.375;SOR=0.446	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:8,9:17:99:0|1:109320221_A_C:202,0,309:109320221	5	0	1	0
chr9	112111717	112111717	C	T	exonic	SUSD1	.	nonsynonymous SNV	SUSD1:NM_001282640:exon8:c.G1108A:p.V370M,SUSD1:NM_001282643:exon8:c.G1108A:p.V370M,SUSD1:NM_022486:exon8:c.G1108A:p.V370M	.	429	1082	11	0	0	11	0.00505747	.	.	.	723248	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.097	0.0372635756711	0.0023	0.000998403	0.0022	0.0002	0.0042	0	0.0002	0.0031	0.0055	0.0001	0.0021798	337	154602	rs146611081	0.0030	0.0030	0.0029	0.0030	0.0068	0.0029	0.0029	0.0051	0.0045	0.0004	0.0035	0.0135	0	7.488e-05	0.0068	0.0032	0.0037	0.0002	0.0019	0.0019	0.0021	0.0016	0.0024	0.0017	0.0016	0.0021	0.0020	0.0006	0	0.0024	0.0132	0	0	0.0068	0.0024	0.0028	0.0002	0.031	0.46129	D	0.007	0.70582	D	0.975	0.58077	D	0.424	0.45210	B	0.021106	0.26899	N	0.185929	1	0.08975	N	2.785	0.81254	M	-0.91	0.75670	T	-1.33	0.33197	N	0.228	0.26475	-0.5208	0.67884	T	0.371	0.73016	T	10	0.0047426224	0.00100	T	0.037264	0.57510	D	0.281	0.59861	.	.	0.506373324096	0.50276	0.568278895837355	0.56755	0.197480517235	0.22124	0.366599887609	0.20343	T	0.059504	0.31133	T	-0.426477	0.01557	T	-0.386219	0.34995	T	0.0231086612748035	0.01037	T	0.750125	0.37153	T	0.028860273	0.02288	0.05759965	0.10497	0.028860273	0.02288	0.05759965	0.10497	-7.218	0.55610	T	.	.	0.138	0.35393	B	.;.;.	.;.;.	0.431667	0.08022	4.739	0.99674541523092997	0.78846	0.04197	0.09704	N	AEFBI	0.067539	0.13282	N	-0.203300905073977	0.32998	1.867243	-0.366909802667865	0.25992	1.432796	0.999965599065644	0.48965	0.706548	0.73137	0	0.659037	0.61890	0	0.616094	0.41390	0	0.714379	0.83352	0	.	.	5.6	3.73	0.41982	-0.367000	0.07607	-2.215000	0.04046	-0.837000	0.02821	0.000000	0.06391	0.000000	0.08366	0.028000	0.12845	0.0:0.8333:0.0:0.1667	9.495	0.38149	825	0.40060	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.005539	0.005051	0.004076	0.008772	0.050000	0.017241	0.006098	0.000000	0.08333	799.83	33	chr9	112111717	.	C	T	799.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.885;DP=241;ExcessHet=0;FS=0.972;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.7;ReadPosRankSum=0.282;SOR=0.518	GT:AD:DP:GQ:PL	0/1:31,32:63:99:810,0,731	5	0	1	0
chr9	113368345	113368345	C	T	exonic	BSPRY	.	nonsynonymous SNV	BSPRY:NM_001317943:exon5:c.C659T:p.T220I,BSPRY:NM_017688:exon5:c.C644T:p.T215I	.	431	1089	2	0	0	2	0.000917431	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.088	0.0041420352037	.	.	6.625e-05	0	0	0	0	1.499e-05	0	0.0004	5.17e-05	8	154602	rs756270735	5.609e-05	5.609e-05	4.22e-05	7.013e-05	0.0005	4.61e-05	4.236e-05	0.0004	0.0004	0	0	0	0	0	0.0005	2.338e-05	9.934e-05	0.0005	6.573e-06	6.567e-06	0	1.346e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.014	0.53172	D	0.095	0.39492	T	0.751	0.43285	P	0.171	0.35348	B	0.000355	0.45440	D	0.258522	0.575366	0.32329	D	1.79	0.46772	L	3.24	0.06845	T	-1.58	0.38151	N	0.386	0.42737	-1.0311	0.20099	T	0.016	0.06473	T	10	0.097669095	0.17606	T	0.004142	0.09931	T	0.088	0.25558	0.406	0.43902	0.219573609325	0.21563	0.44603263795760356	0.44521	0.118472591172	0.13338	0.484208762646	0.36636	T	0.009762	0.08861	T	-0.406158	0.02109	T	-0.471763	0.25328	T	0.0909284431203432	0.11328	T	0.70423	0.31438	T	0.097221375	0.22913	0.104008384	0.24970	0.097221375	0.22912	0.104008384	0.24969	-4.677	0.33125	T	.	.	0.194	0.41526	B	.	.	1.730113	0.22019	15.45	0.99826097167496664	0.90852	0.53318	0.29343	D	AEFDBI	0.147391	0.27106	N	0.0285848286873668	0.43158	2.614286	0.114999761498827	0.45316	2.796852	0.999994745631001	0.74766	0.638212	0.43195	0	0.670034	0.63936	0	0.658983	0.55881	0	0.616125	0.45549	0	.	.	6.07	5.12	0.69459	0.647000	0.24500	3.217000	0.36832	0.599000	0.40250	0.430000	0.26409	0.999000	0.35428	0.587000	0.31065	0.2511:0.6214:0.1275:0.0	9.157	0.36162	864	0.32732	B30.2/SPRY domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001511	0.000000	0.001359	0.002924	0.000000	0.000000	0.000000	0.003788	0.08333	815.83	35	chr9	113368345	.	C	T	815.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.518;DP=245;ExcessHet=0;FS=0.983;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.37;ReadPosRankSum=-0.224;SOR=0.504	GT:AD:DP:GQ:PL	0/1:28,33:61:99:826,0,678	5	0	1	0
chr9	114050117	114050117	A	G	exonic	ZNF618	.	nonsynonymous SNV	ZNF618:NM_001318040:exon14:c.A2716G:p.S906G,ZNF618:NM_001318041:exon14:c.A2719G:p.S907G,ZNF618:NM_133374:exon14:c.A2536G:p.S846G,ZNF618:NM_001318042:exon15:c.A2815G:p.S939G	.	.	.	.	.	.	.	.	.	.	.	3358222	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.165	0.0209570014556	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1197332070	4.165e-06	4.104e-06	5.503e-06	2.802e-06	2.544e-05	1.5e-06	9.8e-07	8.5e-07	5.7e-07	0	0	0	2.544e-05	0	0	3.634e-06	0	1.173e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	0.57480	D	0.006	0.70582	D	0.979	0.59044	D	0.525	0.54779	P	0.000000	0.84330	D	0.042665	0.999975	0.53665	D	0.345	0.11182	N	1.99	0.21666	T	-1.05	0.29114	N	0.377	0.44857	-1.0189	0.24074	T	0.127	0.43360	T	9	0.29363197	0.46937	T	0.020957	0.43652	T	0.165	0.42395	0.491	0.57732	0.0675242888579	0.06100	0.5287370366711356	0.52797	0.828993605942	0.67545	0.636505782604	0.58068	T	0.062331	0.31888	T	-0.105572	0.35500	T	-0.389424	0.34620	T	0.674931475831407	0.39558	D	0.945605	0.79272	D	0.17806925	0.38806	0.18686683	0.41885	0.17806925	0.38806	0.18686683	0.41884	-4.664	0.33295	T	.	.	0.151	0.33389	B	.;.;.	.;.;.	4.418097	0.68405	25.2	0.99802145334172976	0.88639	0.98088	0.79496	D	AEFBI	0.786630	0.71665	D	0.595833425411522	0.72913	5.881307	0.643685640319208	0.78143	6.816989	0.999999998235961	0.74766	0.706548	0.73137	0	0.59043	0.45803	0	0.644132	0.48003	0	0.714379	0.83352	0	.	.	5.93	5.93	0.95888	6.692000	0.74405	11.176000	0.88137	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	1.0:0.0:0.0:0.0	15.564	0.76018	764	0.49969	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	260.83	33	chr9	114050117	.	A	G	260.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.276;DP=233;ExcessHet=0;FS=3.212;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=6.52;ReadPosRankSum=1.2;SOR=1.538	GT:AD:DP:GQ:PL	0/1:28,12:40:99:271,0,762	5	0	1	0
chr9	114504573	114504573	T	A	exonic	WHRN	.	nonsynonymous SNV	WHRN:NM_001173425:exon1:c.A229T:p.T77S,WHRN:NM_015404:exon1:c.A229T:p.T77S	Deafness, autosomal recessive 31, Autosomal recessive;Usher syndrome, type 2D, Autosomal recessive	0	1491	30	1	0	32	0.0106171	.	.	.	54836	Autosomal_recessive_nonsyndromic_hearing_loss_31|not_specified|not_provided|Usher_syndrome_type_2D	MONDO:MONDO:0011767,MedGen:C1846839,OMIM:607084,Orphanet:90636|MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0012662,MedGen:C1568249,OMIM:611383,Orphanet:231178,Orphanet:886	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.129	.	0.0079	0.00698882	0.0078	0.0021	0.0022	0.0001	0.0011	0.0097	0.0060	0.0144	0.0071344	1103	154602	rs56204273	0.0097	0.0097	0.0095	0.0099	0.0135	0.0095	0.0095	0.0129	0.0126	0.0016	0.0035	0.0072	0	0.0016	0.0085	0.0107	0.0094	0.0135	0.0065	0.0065	0.0066	0.0064	0.0164	0.0062	0.0060	0.0135	0.0124	0.0019	0	0.0071	0.0049	0.0004	0.0023	0.0136	0.0098	0.0076	0.0164	0.279	0.20306	T	0.226	0.39645	T	0.129	0.40973	B	0.047	0.35394	B	0.000000	0.84330	D	0.000000	0.999603	0.47795	D	1.32	0.33002	L	3.15	0.17271	T	-0.19	0.23590	N	0.081	0.05670	-1.0032	0.28992	T	0.017	0.06950	T	10	0.006608993	0.00150	T	.	.	.	0.129	0.35316	0.441	0.49648	0.298403945805	0.29456	0.3940285296724342	0.39317	0.793338478549	0.65913	0.856729507446	0.90625	D	0.083708	0.37114	T	-0.535491	0.00356	T	-0.530296	0.19258	T	0.00992235502857127	0.00132	T	0.781022	0.41604	T	0.29710254	0.52643	0.31184223	0.57189	0.21682875	0.44150	0.30620906	0.56646	-7.491	0.57547	T	.	.	0.417	0.60485	A	.;.	.;.	3.444130	0.47929	22.5	0.96962349148796656	0.31783	0.89494	0.49994	D	AEFDBHCIJ	0.573713	0.57679	D	-0.0154655716658005	0.41157	2.456709	0.151065372710964	0.47200	2.953709	0.999999999999996	0.74766	0.72623	0.87236	0	0.851219	0.99844	0	0.594344	0.31042	0	0.603991	0.37454	0	.	.	5.45	5.45	0.79688	1.683000	0.37256	7.867000	0.71756	0.661000	0.55757	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.1373:0.0:0.0:0.8627	11.214	0.48045	720	0.55521	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.013105	0.000000	0.013587	0.014620	0.050000	0.008621	0.006135	0.037879	0.08333	1009.83	35	chr9	114504573	.	T	A	1009.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.072;DP=286;ExcessHet=0;FS=3.99;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.22;ReadPosRankSum=-1.445;SOR=0.858	GT:AD:DP:GQ:PL	0/1:44,46:90:99:1020,0,1035	5	0	1	0
chr9	116396568	116396568	G	C	exonic	PAPPA	.	nonsynonymous SNV	PAPPA:NM_002581:exon22:c.G4836C:p.Q1612H	.	8	1512	2	0	0	2	0.000660939	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.052	0.00346117345202	0.0022	0.000998403	0.0011	0.0004	0.0003	0	0.0006	0.0019	0	6.06e-05	0.0013389	207	154602	rs35109458	0.0015	0.0015	0.0015	0.0015	0.0024	0.0014	0.0014	0.0022	0.0022	0.0005	0.0005	0.0010	0	0.0005	0.0002	0.0024	0.0011	0.0001	0.0016	0.0016	0.0015	0.0016	0.0029	0.0014	0.0013	0.0025	0.0024	0.0006	0	0.0004	0.0020	0	0.0004	0	0.0029	0.0014	0.0002	0.075	0.34444	T	0.123	0.35582	T	0.0	0.02946	B	0.001	0.04355	B	0.005145	0.33053	N	0.363152	0.982269	0.24977	N	0	0.06538	N	4.6	0.01868	T	-0.98	0.25986	N	0.052	0.02366	-0.9523	0.40573	T	0.007	0.02282	T	10	0.0057704747	0.00129	T	0.003461	0.07817	T	0.052	0.14661	0.104	0.01698	0.110392049598	0.10638	0.7013316011942572	0.70074	0.334741658561	0.35486	0.327382385731	0.14539	T	0.174733	0.52407	T	-0.659923	0.00063	T	-0.7225	0.04675	T	0.0124455591136777	0.00204	T	0.647735	0.25884	T	0.06452508	0.13699	0.058799036	0.10928	0.06452508	0.13699	0.058799036	0.10927	-3.744	0.19970	T	.	.	0.118	0.24157	B	.	.	2.009979	0.25536	16.80	0.9380447557866034	0.23776	0.51752	0.28969	D	AEFBCI	0.164907	0.29135	N	-0.691055692196075	0.16275	0.827756	-0.499829023852427	0.22159	1.202204	0.991035929287261	0.32351	0.553676	0.25195	0	0.588015	0.36545	0	0.618467	0.43123	0	0.620846	0.47308	0	.	.	5.71	1.81	0.24139	-0.081000	0.11285	1.250000	0.25164	-0.191000	0.09375	0.946000	0.32893	1.000000	0.68203	0.994000	0.71098	0.1519:0.1405:0.3236:0.384	1.716	0.02727	855	0.34697	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	807.83	40	chr9	116396568	.	G	C	807.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.17;DP=264;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.06;ReadPosRankSum=-0.671;SOR=0.741	GT:AD:DP:GQ:PL	0/1:33,34:67:99:818,0,771	5	0	1	0
chr9	121773247	121773247	C	T	exonic	DAB2IP	.	nonsynonymous SNV	DAB2IP:NM_138709:exon10:c.C2347T:p.R783W,DAB2IP:NM_032552:exon12:c.C2635T:p.R879W	.	382	1138	2	0	0	2	0.000877963	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.248	.	0.0063	0.00299521	0.0049	0.0021	0.0052	0	0.0541	0.0099	0.0159	0.0012	0.0035316	546	154602	rs56200518	0.0089	0.0087	0.0091	0.0086	0.0105	0.0087	0.0087	0.0103	0.0103	0.0013	0.0019	0.0007	0	0.0108	0.0008	0.0105	0.0054	0.0015	0.0059	0.0059	0.0062	0.0057	0.0100	0.0056	0.0055	0.0094	0.0092	0.0019	0.0055	0.0014	0.0003	0.0002	0.0089	0	0.0100	0.0052	0.0012	0.004	0.65419	D	0.017	0.60337	D	1.0	0.90584	D	0.998	0.88582	D	0.000000	0.84330	D	0.000000	0.998793	0.48338	D	3.245	0.89746	M	2.57	0.13552	T	-3.82	0.71997	D	0.773	0.77039	-1.0874	0.05978	T	0.069	0.28147	T	10	0.008497626	0.00192	T	.	.	.	0.248	0.55615	.	.	0.586360121981	0.58309	0.6143580991708928	0.61367	0.676827167386	0.59798	0.919709444046	0.98301	D	0.276945	0.64954	T	-0.270245	0.11730	T	-0.149933	0.59250	T	0.0534955095472123	0.06103	T	0.984002	0.94786	D	0.2588213	0.48933	0.21386802	0.45915	0.2588213	0.48933	0.21386802	0.45914	-6.637	0.51357	T	.	.	0.723	0.73897	P	.;.;.;.;.	.;.;.;.;.	3.712730	0.53010	23.3	0.99870744953052681	0.94815	0.59337	0.30887	D	AEFBI	0.397353	0.47346	N	-0.0127095283675204	0.41281	2.466332	-0.208441860682112	0.31230	1.765591	0.999773461258034	0.42865	0.706548	0.73137	0	0.610034	0.51514	0	0.570548	0.19454	0	0.714379	0.83352	0	.	.	4.67	1.26	0.20534	1.064000	0.30189	1.515000	0.27051	0.549000	0.26987	0.827000	0.30089	0.783000	0.26796	0.933000	0.47100	0.5356:0.4644:0.0:0.0	13.064	0.58433	962	0.08456	.;Domain of unknown function DUF3498;Domain of unknown function DUF3498;.;.	TRAF1	Cells_Cultured_fibroblasts	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002070	0.000000	0.001385	0.005952	0.000000	0.000000	0.003185	0.000000	0.08333	706.83	35	chr9	121773247	.	C	T	706.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.34;DP=251;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=9.96;ReadPosRankSum=2.15;SOR=0.608	GT:AD:DP:GQ:PL	0/1:43,28:71:99:717,0,1072	5	0	1	0
chr9	122724732	122724732	T	C	exonic	OR1L4	.	nonsynonymous SNV	OR1L4:NM_001005235:exon1:c.T743C:p.V248A	.	428	916	178	0	0	178	0.0885572	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.060	0.00143063714583	.	.	6.622e-05	0	0.0002	0.0001	0.0002	6.017e-05	0	0	3.84e-05	1	26028	rs748975619	0.0001	0.0021	7.836e-05	0.0002	0.0008	0.0001	0.0001	0.0003	0.0002	9.132e-05	0.0002	7.963e-05	0.0002	4.349e-05	0.0008	0.0002	0.0003	3.688e-05	0.0002	0.0017	0.0001	0.0002	0.0005	0.0001	8.825e-05	8.643e-05	4.843e-05	0.0001	0	0.0002	0	0.0002	0.0003	0	0.0001	0	0.0005	0.066	0.36113	T	0.063	0.45110	T	0.002	0.09854	B	0.012	0.16012	B	0.119040	0.19091	N	0.433255	1	0.08975	N	2.24	0.63355	M	8.47	0.00218	T	-3.71	0.70674	D	0.163	0.17140	-0.9813	0.34701	T	0.000	0.00152	T	10	0.08632538	0.14663	T	0.001431	0.02139	T	0.060	0.17295	.	.	0.380730819819	0.37686	0.050310918284802233	0.04974	0.137390497862	0.15494	0.204048782587	0.00584	T	0.018055	0.14619	T	-0.26113	0.12768	T	-0.612872	0.11753	T	0.0930222347378731	0.11572	T	0.328467	0.06836	T	0.12669528	0.29668	0.18975647	0.42339	0.12669528	0.29667	0.18975647	0.42339	-5.477	0.41653	T	.	.	0.162	0.35767	B	.	.	1.361823	0.17710	13.32	0.37116804741921844	0.02427	0.22928	0.21909	N	AEFGBI	0.092843	0.18792	N	-1.18873539693136	0.05170	0.2350358	-1.18788360110161	0.06111	0.2931782	0.00732444700759022	0.11439	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.23	3.09	0.34677	0.354000	0.19885	0.254000	0.16463	-1.735000	0.00709	0.000000	0.06391	0.000000	0.08366	0.027000	0.12703	0.0:0.1836:0.0:0.8164	7.537	0.26888	889	0.27310	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.066465	0.232323	0.014946	0.032164	0.150000	0.008621	0.100610	0.034091	0.5	1959.82	287	chr9	122724732	.	T	C	1959.82	.	AC=3;AF=0.5;AN=6;BaseQRankSum=8;DP=1745;ExcessHet=1.383;FS=37.334;MLEAC=4;MLEAF=0.667;MQ=58.6;MQRankSum=-14.14;QD=2.32;ReadPosRankSum=-6.488;SOR=5.145	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:230,33:263:99:0|1:122724732_T_C:641,0,9469:122724732	0	0	3	3
chr9	122724738	122724738	T	C	exonic	OR1L4	.	nonsynonymous SNV	OR1L4:NM_001005235:exon1:c.T749C:p.V250A	.	428	1012	82	0	0	82	0.0389364	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.010	0.00138298223274	.	.	8.242e-06	0	0	0	0	1.499e-05	0	0	3.84e-05	1	26028	rs773750205	4.128e-06	0.0017	4.098e-06	4.158e-06	4.494e-05	1.49e-06	9.8e-07	7.45e-06	2.79e-06	2.995e-05	4.494e-05	0	2.533e-05	0	0	9.039e-07	1.665e-05	0	2.725e-05	0.0009	3.982e-05	1.4e-05	0.0002	8.37e-06	5.29e-06	.	.	2.5e-05	0	0	0	0	0.0002	0	0	0	0.0002	0.56	0.06381	T	0.334	0.18340	T	0.0	0.02946	B	0.003	0.08700	B	0.363490	0.04318	N	1.430160	1	0.08975	N	-0.355	0.03127	N	0.93	0.44065	T	0.28	0.04233	N	0.048	0.01999	-1.0082	0.27479	T	0.042	0.17994	T	10	0.027532607	0.00898	T	0.001383	0.02011	T	0.010	0.01040	.	.	0.146414634003	0.14194	0.029921180382566498	0.02941	0.133905216648	0.15082	0.228572815657	0.01864	T	0.008154	0.07505	T	-0.373075	0.03441	T	-0.773673	0.02649	T	0.0352781535904976	0.02857	T	0.0471953	0.00337	T	0.018524058	0.00374	0.028399432	0.01073	0.018524058	0.00374	0.028399432	0.01073	-3.488	0.16265	T	.	.	0.091	0.13127	B	.	.	-1.366501	0.00385	0.007	0.26517900806360473	0.01274	0.00656	0.02847	N	AEFGBI	0.051091	0.08994	N	-1.92157175688344	0.00310	0.01331125	-1.9879660246432	0.00325	0.01433726	0.679012312914238	0.22457	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.23	-7.85	0.01056	-3.495000	0.00503	-12.828000	0.00498	-1.735000	0.00709	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.2704:0.1842:0.5455	8.760	0.33827	889	0.27310	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.375	1323.54	264	chr9	122724738	.	T	C	1323.54	.	AC=3;AF=0.375;AN=8;BaseQRankSum=5.98;DP=1624;ExcessHet=1.383;FS=29.391;MLEAC=4;MLEAF=0.5;MQ=58.58;MQRankSum=-15.99;QD=1.63;ReadPosRankSum=-6.249;SOR=7.442	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:229,29:258:99:0|1:122724732_T_C:528,0,9520:122724732	1	0	3	2
chr9	125302647	125302647	G	A	exonic	GAPVD1	.	nonsynonymous SNV	GAPVD1:NM_001282681:exon3:c.G850A:p.V284M,GAPVD1:NM_001330778:exon3:c.G850A:p.V284M,GAPVD1:NM_001354294:exon3:c.G850A:p.V284M,GAPVD1:NM_001354298:exon3:c.G850A:p.V284M,GAPVD1:NM_015635:exon3:c.G850A:p.V284M,GAPVD1:NM_001330777:exon4:c.G850A:p.V284M,GAPVD1:NM_001354295:exon4:c.G850A:p.V284M,GAPVD1:NM_001354300:exon4:c.G850A:p.V284M,GAPVD1:NM_001282679:exon5:c.G850A:p.V284M,GAPVD1:NM_001282680:exon5:c.G850A:p.V284M,GAPVD1:NM_001354293:exon5:c.G850A:p.V284M,GAPVD1:NM_001354296:exon5:c.G850A:p.V284M,GAPVD1:NM_001354297:exon5:c.G850A:p.V284M,GAPVD1:NM_001354301:exon5:c.G850A:p.V284M,GAPVD1:NM_001354299:exon6:c.G850A:p.V284M	.	435	1075	12	0	0	12	0.00555042	.	.	.	700797	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.356	0.0493472363448	0.0037	0.00359425	0.0040	0.0010	0.0022	0	0.0020	0.0046	0.0022	0.0079	0.0041526	642	154602	rs55779102	0.0046	0.0046	0.0045	0.0047	0.0078	0.0045	0.0044	0.0073	0.0071	0.0007	0.0028	7.653e-05	5.038e-05	0.0020	0.0043	0.0049	0.0045	0.0078	0.0031	0.0031	0.0031	0.0031	0.0075	0.0028	0.0028	0.0056	0.0049	0.0007	0	0.0035	0.0006	0.0004	0.0014	0.0034	0.0047	0.0043	0.0075	0.001	0.78490	D	0.0	0.92824	D	0.991	0.90584	D	0.883	0.83170	P	0.000000	0.84330	D	0.000000	1	0.81001	D	1.445	0.36358	L	-1.32	0.79761	T	-2.41	0.54217	N	0.715	0.74826	0.156	0.85154	D	0.551	0.83550	D	10	0.013211578	0.00281	T	0.049347	0.63771	D	0.684	0.88443	.	.	0.876937445428	0.87573	0.6580388427450596	0.65740	0.613198805805	0.55896	0.82372969389	0.85600	D	0.39639	0.75503	T	-0.00825578	0.50510	T	0.21993	0.84170	D	0.0236995626025245	0.01108	T	0.927307	0.73215	D	0.5044271	0.67354	0.45495492	0.68310	0.5044271	0.67355	0.45495492	0.68311	-12.889	0.89389	D	.	.	0.168	0.63769	B	.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.	5.108793	0.85399	28.6	0.99895898233659841	0.96895	0.99304	0.94225	D	AEFBI	0.893476	0.83148	D	0.843781982928702	0.88749	9.697589	0.873656879893523	0.94320	12.66926	0.999999999999999	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	6.17	6.17	0.99707	7.878000	0.85659	11.828000	0.97436	0.672000	0.70159	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:0.0:1.0:0.0	19.868	0.96822	814	0.42100	Ras GTPase-activating domain|Ras GTPase-activating domain;Ras GTPase-activating domain|Ras GTPase-activating domain;Ras GTPase-activating domain|Ras GTPase-activating domain;Ras GTPase-activating domain|Ras GTPase-activating domain;Ras GTPase-activating domain|Ras GTPase-activating domain;Ras GTPase-activating domain|Ras GTPase-activating domain;Ras GTPase-activating domain|Ras GTPase-activating domain;Ras GTPase-activating domain|Ras GTPase-activating domain;.;Ras GTPase-activating domain|Ras GTPase-activating domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.003525	0.010101	0.002717	0.000000	0.000000	0.000000	0.000000	0.011364	0.08333	1598.83	36	chr9	125302647	.	G	A	1598.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.722;DP=281;ExcessHet=0;FS=0.763;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=15.99;ReadPosRankSum=0.049;SOR=0.567	GT:AD:DP:GQ:PL	0/1:41,59:100:99:1609,0,1034	5	0	1	0
chr9	127709469	127709469	G	A	exonic	CFAP157	.	nonsynonymous SNV	CFAP157:NM_001012502:exon2:c.G209A:p.R70H	.	422	1098	2	0	0	2	0.000909918	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.031	0.00883925515285	0.0003	0.000399361	0.0002	0	0	0	0	0.0002	0	0.0003	0.0001617	25	154602	rs372321100	0.0002	0.0002	0.0002	0.0002	0.0009	0.0002	0.0002	0.0006	0.0006	0	2.237e-05	0	5.038e-05	1.879e-05	0.0009	0.0002	0.0001	0.0008	0.0001	0.0001	6.424e-05	0.0002	0.0002	7.086e-05	5.743e-05	0.0001	8.876e-05	2.406e-05	0	0	0	0.0002	0	0	0.0002	0.0005	0.0002	0.133	0.26409	T	0.069	0.45961	T	0.516	0.37437	P	0.063	0.27082	B	0.026317	0.25941	N	0.451476	0.998678	0.21993	N	.	.	.	0.92	0.44461	T	-2.15	0.48687	N	0.317	0.35727	-1.0768	0.07983	T	0.065	0.26948	T	10	0.05564767	0.06116	T	0.008839	0.23318	T	0.031	0.07369	.	.	0.519187973786	0.51563	0.25266778676588714	0.25180	0.908210176279	0.70936	.	.	.	0.051506	0.28899	T	-0.434093	0.01401	T	-0.51189	0.21121	T	0.0703867058637956	0.08704	T	0.759724	0.38410	T	0.055521592	0.10801	0.0561324	0.09975	0.055521592	0.10800	0.0561324	0.09974	-6.814	0.57540	T	.	.	0.09	0.12607	B	.;.	.;.	2.818074	0.37116	20.4	0.99607729246223076	0.74634	0.54234	0.29566	D	AEFGBCI	0.120243	0.23432	N	-0.139241537740942	0.35695	2.053498	-0.0551691638916645	0.37267	2.179737	0.999258224189872	0.38906	0.660377	0.49826	0	0.588066	0.40923	0	0.658983	0.55881	0	0.592323	0.36904	0	.	.	5.12	3.22	0.36041	1.303000	0.33075	1.723000	0.28273	0.654000	0.53741	1.000000	0.71638	1.000000	0.68203	0.608000	0.31589	0.1876:0.0:0.8124:0.0	8.615	0.32988	268	0.89479	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	760.83	33	chr9	127709469	.	G	A	760.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.308;DP=251;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.42;ReadPosRankSum=-0.216;SOR=0.806	GT:AD:DP:GQ:PL	0/1:39,34:73:99:771,0,919	5	0	1	0
chr9	127712737	127712737	T	C	exonic	CFAP157	.	nonsynonymous SNV	CFAP157:NM_001012502:exon7:c.T1166C:p.V389A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.029	0.00754967238248	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1481683864	4.788e-06	4.788e-06	4.084e-06	5.5e-06	2.987e-05	1.99e-06	1.28e-06	3.85e-06	1.44e-06	2.987e-05	2.236e-05	0	0	0	0	2.698e-06	0	2.319e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.097	0.30943	T	0.398	0.15109	T	0.075	0.24198	B	0.043	0.24256	B	0.392890	0.13231	N	0.726105	1	0.08975	N	.	.	.	0.86	0.46777	T	-0.63	0.18459	N	0.053	0.02462	-1.0320	0.19809	T	0.061	0.25635	T	10	0.042764872	0.03057	T	0.00755	0.20033	T	0.029	0.06676	0.203	0.11797	0.0846915920261	0.08053	0.06642761436134914	0.06580	0.256219294154	0.28199	.	.	.	0.014782	0.12522	T	-0.276578	0.11034	T	-0.635062	0.10034	T	0.0934884885007722	0.11626	T	0.211579	0.02577	T	0.057788562	0.11543	0.0918108	0.21604	0.057788562	0.11543	0.0918108	0.21603	-2.905	0.09193	T	.	.	0.078	0.06710	B	.	.	0.188658	0.05752	2.195	0.71915589784676004	0.09792	0.04160	0.09652	N	AEFGBI	0.041397	0.06289	N	-0.956103048173258	0.09557	0.4527987	-0.937575101200426	0.11212	0.569826	0.999967049173947	0.48965	0.421363	0.06395	0	0.550933	0.16991	0	0.584781	0.30282	0	0.491896	0.07777	0	.	.	5.26	2.85	0.32333	0.160000	0.16278	-1.206000	0.06027	0.665000	0.62972	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.1663:0.0909:0.0:0.7428	4.689	0.12153	269	0.89438	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1872.83	43	chr9	127712737	.	T	C	1872.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.56;DP=373;ExcessHet=0;FS=3.537;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.02;ReadPosRankSum=0.168;SOR=0.888	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:94,76:170:99:1|0:127712732_T_C:1883,0,3630:127712732	5	0	1	0
chr9	128180734	128180734	C	T	exonic	CIZ1	.	nonsynonymous SNV	CIZ1:NM_001131018:exon5:c.G597A:p.M199I,CIZ1:NM_001257976:exon5:c.G366A:p.M122I,CIZ1:NM_001131015:exon6:c.G669A:p.M223I,CIZ1:NM_001131016:exon6:c.G669A:p.M223I,CIZ1:NM_001131017:exon6:c.G654A:p.M218I,CIZ1:NM_001257975:exon6:c.G759A:p.M253I,CIZ1:NM_012127:exon6:c.G669A:p.M223I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.040	0.00825417011097	.	.	1.659e-05	0	0	0	0	0	0	0.0001	1.29e-05	2	154602	rs750772075	3.436e-06	4.104e-06	1.369e-06	5.521e-06	4.652e-05	1.01e-06	7.3e-07	1.586e-05	9.32e-06	0	0	0	0	0	0	0	1.664e-05	4.652e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	0.57480	D	0.426	0.29153	T	0.622	0.39964	P	0.108	0.31289	B	0.478534	0.04967	N	1.358490	1	0.08975	N	0.895	0.22405	L	0.87	0.46412	T	-1.14	0.49352	N	0.15	0.17691	-1.0448	0.15884	T	0.043	0.18535	T	10	0.064921856	0.08683	T	0.008254	0.21853	T	0.040	0.10527	0.206	0.12216	0.326275561783	0.32232	0.03560397677729866	0.03507	0.30204711606	0.32536	0.265842139721	0.05607	T	0.021635	0.25645	T	-0.360155	0.04121	T	-0.572968	0.15178	T	0.322245866060257	0.25913	T	0.843416	0.55677	T	0.11349467	0.26804	0.061869204	0.12017	0.11349467	0.26804	0.061869204	0.12016	-3.606	0.18161	T	.	.	0.305	0.53394	B	.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.	0.769631	0.11396	8.008	0.69621170196694249	0.09031	0.03371	0.08468	N	AEFBCI	0.048678	0.08332	N	-1.5426959587266	0.01577	0.06892834	-1.68895979470788	0.01187	0.05341876	0.999999530121174	0.74766	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	4.73	-8.47	0.00819	-1.659000	0.02077	-2.256000	0.03990	-0.780000	0.03343	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2709:0.5191:0.1057:0.1043	2.994	0.05627	451	0.79296	.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	523.83	38	chr9	128180734	.	C	T	523.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.175;DP=212;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.97;ReadPosRankSum=1.86;SOR=0.902	GT:AD:DP:GQ:PL	0/1:14,21:35:99:534,0,338	5	0	1	0
chr9	135485382	135485382	A	G	exonic	PPP1R26	.	nonsynonymous SNV	PPP1R26:NM_014811:exon4:c.A872G:p.K291R	.	423	1098	1	0	0	1	0.000455166	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.039	0.00730095657525	.	.	4.212e-05	0	0	0	0	0	0	0.0003	3.23e-05	5	154602	rs774881863	2.465e-05	2.463e-05	2.452e-05	2.477e-05	0.0002	1.804e-05	1.601e-05	0.0001	0.0001	0	0	0	0	0	0	1.259e-05	8.28e-05	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.387	0.10945	T	0.503	0.11078	T	0.015	0.17086	B	0.011	0.15521	B	0.355583	0.13748	N	0.707775	1	0.08975	N	1.655	0.42436	L	2.82	0.10871	T	-1.66	0.39692	N	0.063	0.04426	-0.9609	0.39012	T	0.027	0.11529	T	10	0.0426808	0.03041	T	0.007301	0.19361	T	0.039	0.10176	0.251	0.18912	0.082315109003	0.07666	0.06465228014040837	0.06404	0.127066571743	0.14318	0.321806967258	0.13695	T	0.003638	0.03050	T	-0.525935	0.00406	T	-0.733567	0.04168	T	0.0232565139872016	0.01053	T	0.557944	0.19432	T	0.048647568	0.08512	0.05111106	0.08161	0.048647568	0.08512	0.05111106	0.08160	-4.601	0.32184	T	.	.	0.100	0.17317	B	.;.;.;.;.	.;.;.;.;.	1.532334	0.19659	14.37	0.92194115524981279	0.21562	0.40027	0.26345	N	AEFGBI	0.075570	0.15179	N	-0.869957670721503	0.11561	0.5586308	-0.868289064986755	0.12849	0.6633223	0.999956072833018	0.48110	0.67177	0.52595	0	0.588066	0.40923	0	0.702456	0.68683	0	0.635551	0.53088	0	.	.	5.61	2.06	0.25932	1.892000	0.39382	3.381000	0.38003	-0.613000	0.04580	0.041000	0.21027	0.999000	0.35428	0.013000	0.09966	0.7795:0.0:0.2205:0.0	8.608	0.32944	515	0.74782	Protein phosphatase 1 regulatory subunit 26, N-terminal domain;Protein phosphatase 1 regulatory subunit 26, N-terminal domain;Protein phosphatase 1 regulatory subunit 26, N-terminal domain;Protein phosphatase 1 regulatory subunit 26, N-terminal domain;Protein phosphatase 1 regulatory subunit 26, N-terminal domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1690.83	106	chr9	135485382	.	A	G	1690.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.68;DP=460;ExcessHet=0;FS=0.713;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=15.37;ReadPosRankSum=-0.209;SOR=0.606	GT:AD:DP:GQ:PL	0/1:53,57:110:99:1701,0,1429	5	0	1	0
chr9	136802780	136802915	GGTCAAGGTGAGCTCAGGGCCCAGGGCTGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCTGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGG	-	exonic	CCDC183	.	frameshift deletion	CCDC183:NM_001039374:exon6:c.660_666del:p.V221Gfs*3	.	372	1135	7	0	8	15	0.00307422	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0006	0.0007	0.0006	0.0006	0.0048	0.0006	0.0006	0.0042	0.0040	0.0048	0.0008	0.0014	0.0022	0.0002	0.0023	0.0003	0.0011	0.0014	0.0028	0.0034	0.0031	0.0025	0.0075	0.0026	0.0025	0.0068	0.0065	0.0075	0	0.0015	0.0015	0.0014	0.0003	0	0.0010	0.0024	0.0017	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	181.79	33	chr9	136802779	.	AGGTCAAGGTGAGCTCAGGGCCCAGGGCTGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCTGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGG	A	181.79	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.15;DP=216;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=4.54;ReadPosRankSum=-4.885;SOR=0.693	GT:AD:DP:GQ:PL	0/1:20,20:40:99:192,0,594	5	0	1	0
chr9	136804610	136804610	A	G	exonic	CCDC183	.	nonsynonymous SNV	CCDC183:NM_001039374:exon7:c.A775G:p.S259G	.	411	1108	2	1	0	4	0.0018018	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.045	0.00761442474391	.	0.00159744	0.0012	0	8.664e-05	0	0	0	0.0011	0.0084	0.0009832	152	154602	rs533711576	0.0004	0.0004	0.0002	0.0006	0.0067	0.0004	0.0004	0.0062	0.0060	5.974e-05	0	0	2.519e-05	0	0	7.195e-06	0.0006	0.0067	0.0002	0.0002	0.0001	0.0003	0.0066	0.0002	0.0001	0.0048	0.0042	4.813e-05	0	0	0	0	0	0	0	0	0.0066	0.139	0.25768	T	0.025	0.56192	D	0.041	0.21357	B	0.029	0.21540	B	0.978304	0.08111	U	0.987488	0.963078	0.26040	N	2.085	0.57729	M	2.61	0.13095	T	-2.09	0.47683	N	0.231	0.25989	-1.0588	0.12058	T	0.031	0.13199	T	10	0.004956305	0.00106	T	0.007614	0.20192	T	0.045	0.12272	0.199	0.11247	0.204665344411	0.20097	0.06015780008054954	0.05955	0.217750314826	0.24300	0.320023745298	0.13425	T	0.022614	0.17407	T	-0.568404	0.00226	T	-0.584684	0.14130	T	0.026244528841081	0.01439	T	0.686431	0.29515	T	0.13312235	0.30973	0.116870575	0.28213	0.13312235	0.30973	0.116870575	0.28212	-4.132	0.25760	T	.	.	0.083	0.09045	B	.	.	1.921804	0.24409	16.39	0.98353955066912313	0.40578	0.10944	0.16301	N	AEFDBHCI	0.128337	0.24607	N	-0.543598847448563	0.20684	1.092246	-0.506705920734285	0.21971	1.191093	0.999999999277579	0.74766	0.676563	0.55306	0	0.694456	0.67091	0	0.673471	0.61138	0	0.528226	0.09195	0	.	.	4.24	3.09	0.34677	1.911000	0.39567	6.838000	0.56708	0.756000	0.94297	0.016000	0.19238	1.000000	0.68203	0.616000	0.31793	0.8909:0.0:0.1091:0.0	6.954	0.23742	970	0.06235	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	695.83	39	chr9	136804610	.	A	G	695.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.515;DP=275;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=7.32;ReadPosRankSum=-0.935;SOR=0.606	GT:AD:DP:GQ:PL	0/1:62,33:95:99:706,0,1762	5	0	1	0
chr9	137279855	137279855	C	A	exonic	TOR4A	.	nonsynonymous SNV	TOR4A:NM_017723:exon2:c.C1166A:p.A389D	.	427	1087	7	1	0	9	0.00412277	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.101	.	7.7e-05	0.00579073	0.0083	0	0.0009	0	0	3.945e-05	0	0.0381	0.003454	534	154602	rs199638778	0.0020	0.0020	0.0011	0.0028	0.0324	0.0019	0.0019	0.0313	0.0309	6.024e-05	4.751e-05	0	2.579e-05	0	0.0016	1.63e-05	0.0021	0.0324	0.0011	0.0011	0.0005	0.0017	0.0323	0.0009	0.0009	0.0281	0.0266	0.0001	0	0.0002	0	0	0	0	0	0.0005	0.0323	0.314	0.13834	T	0.271	0.22291	T	0.031	0.20130	B	0.01	0.14941	B	0.053531	0.22801	N	0.486110	0.807614	0.34596	D	1.995	0.54099	M	0.44	0.56609	T	0.71	0.02130	N	0.135	0.13198	-0.9298	0.44168	T	0.121	0.42058	T	10	0.0029107034	0.00047	T	.	.	.	0.101	0.28911	.	.	0.166414681773	0.16258	0.6049456246572906	0.60425	1.69134969673	0.90132	0.676560103893	0.63776	T	0.009468	0.08620	T	-0.430063	0.01481	T	-0.366158	0.37338	T	0.0239424817061536	0.01138	T	0.553245	0.19112	T	0.18322791	0.39580	0.17690974	0.40257	0.18322791	0.39580	0.17690974	0.40257	-4.559	0.31652	T	.	.	0.132	0.28550	B	.	.	1.626469	0.20771	14.90	0.97113217363356841	0.32422	0.14666	0.18523	N	AEFGBCI	0.177914	0.30517	N	-0.575316679759639	0.19696	1.032871	-0.530826938593484	0.21318	1.152666	0.999998741226594	0.74766	0.722319	0.85440	0	0.696144	0.67643	0	0.493711	0.08198	1	0.735409	0.98432	0	.	.	4.68	3.75	0.42236	0.274000	0.18443	1.114000	0.24184	0.583000	0.30283	0.000000	0.06391	0.603000	0.25729	0.024000	0.12247	0.0:0.5763:0.4237:0.0	10.775	0.45548	988	0.01987	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003058	0.000000	0.001362	0.005917	0.000000	0.017544	0.003067	0.003788	0.08333	979.83	35	chr9	137279855	.	C	A	979.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.31;DP=256;ExcessHet=0;FS=0.9;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.8;ReadPosRankSum=0.422;SOR=0.638	GT:AD:DP:GQ:PL	0/1:32,39:71:99:990,0,807	5	0	1	0
chr10	825249	825249	T	C	exonic	LARP4B	.	nonsynonymous SNV	LARP4B:NM_001351277:exon13:c.A1300G:p.S434G,LARP4B:NM_015155:exon13:c.A1300G:p.S434G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.023	0.00390173934956	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.259	0.16628	T	0.094	0.39645	T	0.034	0.20480	B	0.012	0.16012	B	0.000000	0.84330	D	0.124272	0.999909	0.50806	D	1.83	0.48079	L	1.42	0.33189	T	-1.32	0.32991	N	0.378	0.42149	-1.0760	0.08144	T	0.048	0.20553	T	10	0.09752631	0.17572	T	0.003902	0.09180	T	0.023	0.04649	0.235	0.16457	0.189391138174	0.18552	0.5409899109821052	0.54023	0.296725836107	0.32059	0.615102767944	0.55037	T	0.072244	0.34406	T	-0.147588	0.28690	T	-0.449777	0.27720	T	0.606496572494507	0.36659	D	0.835216	0.50504	T	0.1529754	0.34699	0.12790082	0.30779	0.1529754	0.34699	0.12790082	0.30779	-5.445	0.41350	T	.	.	0.098	0.19679	B	.;.	.;.	3.996231	0.58848	24.0	0.98635954636874601	0.43987	0.96367	0.68792	D	AEFDBI	0.396291	0.47282	N	-0.0822847856859552	0.38168	2.231465	0.131294021325016	0.46157	2.866445	0.999198281609489	0.38711	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.57	5.57	0.84021	5.068000	0.64193	7.942000	0.75525	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0743:0.0:0.9257	10.134	0.41870	884	0.28482	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4167	464.42	105	chr10	825249	.	T	C	464.42	.	AC=5;AF=0.417;AN=12;BaseQRankSum=-2.268;DP=485;ExcessHet=6.1542;FS=168.481;MLEAC=5;MLEAF=0.417;MQ=60;MQRankSum=0;QD=1.22;ReadPosRankSum=0.893;SOR=9.735	GT:AD:DP:GQ:PL	0/1:42,19:61:99:132,0,771	1	0	5	0
chr10	7756111	7756111	A	G	exonic	KIN	.	nonsynonymous SNV	KIN:NM_012311:exon13:c.T1151C:p.I384T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.314	0.0039368840257	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.399e-05	0.0003	4.18e-05	2.612e-05	8.079e-05	2.619e-05	2.347e-05	2.855e-05	2.514e-05	6.374e-05	0	4.066e-05	8.079e-05	1.971e-05	0	3.789e-05	0	0	0	1.972e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.006	0.61437	D	0.021	0.58089	D	0.508	0.37280	P	0.363	0.43280	B	0.000000	0.84330	D	0.052984	1	0.81001	D	2.085	0.57729	M	.	.	.	-2.65	0.56787	D	0.722	0.72388	-0.5308	0.67511	T	0.274	0.64546	T	9	0.7252121	0.73927	D	0.003937	0.09305	T	0.314	0.63588	0.537	0.64730	0.741118493395	0.73879	0.7471248489971644	0.74658	0.510940460383	0.49191	0.853174448013	0.90093	D	0.576494	0.86063	D	0.386477	0.89117	D	0.317371	0.88980	D	0.955519378185272	0.64527	D	0.937406	0.76468	D	0.5480004	0.69844	0.38756275	0.63621	0.5480004	0.69845	0.38756275	0.63621	-8.613	0.65175	D	.	.	0.672	0.71831	P	.	.	4.067428	0.60402	24.2	0.99631331253261091	0.76081	0.98487	0.83297	D	AEFBI	0.734415	0.68055	D	0.428576080001684	0.62999	4.525481	0.526030091445756	0.69748	5.404778	0.977746965970882	0.29851	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.683762	0.67416	0	.	.	5.81	5.81	0.92413	7.258000	0.77783	11.135000	0.86907	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	1.0:0.0:0.0:0.0	16.158	0.81492	797	0.45241	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1667	109.06	35	chr10	7756111	.	A	G	109.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=3.23;DP=290;ExcessHet=0.4139;FS=50.627;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=0.94;ReadPosRankSum=0.839;SOR=5.28	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:65,8:73:47:.:.:47,0,1615:.	4	0	2	0
chr10	7965187	7965192	GAAAGA	-	exonic	TAF3	.	nonframeshift deletion	TAF3:NM_031923:exon3:c.1677_1682del:p.E563_K564del	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0007	.	0.0002	0.0007	8.872e-05	0.0008	0	3.16e-05	0	0.0004	0.0001358	21	154602	rs750451523	4.812e-05	4.788e-05	4.103e-05	5.53e-05	0.0004	3.879e-05	3.558e-05	0.0003	0.0002	0.0003	6.972e-05	0	0.0004	0	0	6.305e-06	0.0001	0.0003	0.0002	0.0002	0.0002	0.0002	0.0018	0.0001	0.0001	0.0009	0.0007	0.0004	0	0	0	0.0018	0	0	1.479e-05	0	0.0008	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	1150.79	33	chr10	7965186	.	TGAAAGA	T	1150.79	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.867;DP=229;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=25.02;ReadPosRankSum=0.023;SOR=0.826	GT:AD:DP:GQ:PL	0/1:16,30:46:99:1161,0,561	5	0	1	0
chr10	16920123	16920123	C	T	exonic	CUBN	.	nonsynonymous SNV	CUBN:NM_001081:exon44:c.G6661A:p.V2221I	Megaloblastic anemia-1, Finnish type, Autosomal recessive	0	1501	19	2	0	23	0.00760331	.	.	.	525035	Imerslund-Grasbeck_syndrome_type_1|not_provided|Imerslund-Grasbeck_syndrome|Proteinuria,_chronic_benign	MONDO:MONDO:0100156,MedGen:C4016819,OMIM:261100|MedGen:C3661900|MONDO:MONDO:0009853,MedGen:C4551825,OMIM:PS261100,Orphanet:35858|MONDO:MONDO:0030042,MedGen:C5394384,OMIM:618884	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.113	0.01197038489	0.0003	.	0.0004	0	0.0004	0.0001	0	0.0003	0	0.0013	0.000304	47	154602	rs143291127	0.0003	0.0003	0.0003	0.0003	0.0021	0.0002	0.0002	0.0012	0.0010	5.976e-05	0.0005	0	2.519e-05	0	0.0021	0.0002	0.0005	0.0013	0.0001	0.0001	0.0001	0.0002	0.0006	9.148e-05	7.704e-05	0.0002	0.0001	2.408e-05	0	0.0004	0	0	0	0	0.0001	0.0009	0.0006	1.0	0.00964	T	1.0	0.01155	T	0.003	0.11197	B	0.005	0.11217	B	0.105974	0.19635	N	0.363550	0.999992	0.08975	N	-0.885	0.01428	N	-0.67	0.72458	T	0.67	0.02263	N	0.052	0.02366	-0.9812	0.34724	T	0.077	0.30706	T	10	0.024776965	0.00694	T	0.01197	0.30115	T	0.113	0.31778	.	.	0.281381271821	0.27740	0.10384947785608019	0.10314	0.0663519528093	0.07400	0.228514015675	0.01860	T	0.027638	0.20195	T	-0.531857	0.00375	T	-0.577285	0.14787	T	0.00309759523876235	0.00032	T	0.533547	0.17787	T	0.019803261	0.00519	0.026514784	0.00745	0.019803261	0.00518	0.026514784	0.00745	-2.561	0.06212	T	0.057837205508164215	0.01428	0.056	0.00505	B	.	.	0.167143	0.05568	2.024	0.2080280432727579	0.00764	0.10280	0.15830	N	AEFGBI	0.032417	0.03657	N	-1.25401316700851	0.04247	0.1913003	-1.1040630880277	0.07623	0.3714886	0.272761863830425	0.18909	0.608966	0.35542	0	0.573888	0.26702	0	0.573888	0.23631	0	0.505526	0.08623	0	.	.	4.97	1.05	0.19280	1.942000	0.39870	0.467000	0.18675	-1.013000	0.01759	0.983000	0.35670	0.210000	0.23636	0.108000	0.18652	0.0:0.2334:0.1371:0.6294	5.421	0.15700	808	0.43318	CUB domain|CUB domain|CUB domain|CUB domain	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001511	0.000000	0.001359	0.000000	0.000000	0.000000	0.003049	0.003788	0.08333	975.83	36	chr10	16920123	.	C	T	975.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.932;DP=279;ExcessHet=0;FS=6.699;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.49;ReadPosRankSum=0.343;SOR=0.303	GT:AD:DP:GQ:PL	0/1:49,44:93:99:986,0,1258	5	0	1	0
chr10	24543238	24543238	C	G	exonic	KIAA1217	.	nonsynonymous SNV	KIAA1217:NM_019590:exon19:c.C3968G:p.T1323S	.	416	1097	6	3	0	12	0.00543971	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.019	0.0091393955991	.	0.00119808	0.0005	0	0	0	0.0002	6.039e-05	0	0.0036	0.0004722	73	154602	rs199890594	0.0003	0.0003	0.0001	0.0004	0.0038	0.0002	0.0002	0.0034	0.0033	2.987e-05	0	0	0	0	0.0007	2.788e-05	0.0003	0.0038	0.0002	0.0002	0.0001	0.0002	0.0031	0.0001	8.74e-05	0.0019	0.0016	0	0	0.0001	0	0	0	0	8.827e-05	0	0.0031	0.24	0.17701	T	1.0	0.02348	T	0.006	0.17573	B	0.003	0.16460	B	0.073897	0.02281	N	1.807420	1	0.08975	N	1.905	0.50856	L	2.01	0.28836	T	-0.05	0.10656	N	0.048	0.01999	-1.0775	0.07841	T	0.057	0.24018	T	10	0.004551202	0.00094	T	0.009139	0.24036	T	0.019	0.03383	0.262	0.20631	0.190952846119	0.18690	0.25949108646383606	0.25863	0.109122026774	0.12303	0.221402317286	0.01392	T	0.075827	0.35272	T	-0.660599	0.00062	T	-0.724732	0.04570	T	0.0675783231854439	0.08308	T	0.364964	0.08484	T	0.037136853	0.04704	0.02508658	0.00542	0.037136853	0.04704	0.02508658	0.00542	-2.653	0.07079	T	.	.	0.086	0.13080	B	.;.	.;.	0.299556	0.06756	3.267	0.26786485108634533	0.01299	0.22660	0.21821	N	AEFBCI	0.126577	0.24358	N	-1.36717920388515	0.02951	0.1310809	-1.37797892533313	0.03488	0.1627928	0.987924741475443	0.31374	0.706298	0.61202	0	0.588015	0.36545	0	0.709663	0.75317	0	0.620846	0.47308	0	.	.	5.66	0.466	0.15928	0.302000	0.18947	0.573000	0.19627	-0.174000	0.10959	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.1134:0.4508:0.2256:0.2102	2.814	0.05117	942	0.12992	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	1595.83	76	chr10	24543238	.	C	G	1595.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.023;DP=343;ExcessHet=0;FS=0.693;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.88;ReadPosRankSum=-0.509;SOR=0.79	GT:AD:DP:GQ:PL	0/1:52,63:115:99:1606,0,1344	5	0	1	0
chr10	24984815	24984815	T	C	exonic	ENKUR	.	nonsynonymous SNV	ENKUR:NM_001270383:exon5:c.A499G:p.R167G,ENKUR:NM_145010:exon5:c.A685G:p.R229G	.	430	1091	1	0	0	1	0.000458085	.	.	.	2813049	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.063	0.00300766377726	0.0047	0.000998403	0.0045	0.0015	0.0024	0	0.0082	0.0066	0.0044	0.0002	0.0043466	672	154602	rs33980615	0.0056	0.0056	0.0056	0.0056	0.0063	0.0055	0.0055	0.0062	0.0062	0.0009	0.0038	0.0077	0	0.0080	0.0010	0.0063	0.0049	0.0002	0.0050	0.0050	0.0050	0.0050	0.0066	0.0047	0.0046	0.0061	0.0059	0.0016	0.0571	0.0054	0.0081	0	0.0066	0.0034	0.0066	0.0052	0.0004	0.028	0.46129	D	0.051	0.50809	T	0.772	0.43974	P	0.243	0.45338	B	0.024490	0.26253	N	0.453783	0.852969	0.28469	N	1.15	0.29295	L	.	.	.	-4.28	0.76334	D	0.271	0.30687	-0.9987	0.30283	T	0.076	0.30492	T	9	0.007371098	0.00167	T	0.003008	0.06457	T	0.063	0.18251	.	.	0.167679373172	0.16340	0.5162962841369829	0.51552	0.0930623830389	0.10513	0.360368400812	0.19439	T	0.075543	0.39389	T	-0.480793	0.00731	T	-0.460513	0.26542	T	0.054717674851808	0.06311	T	0.830717	0.49671	T	0.27724168	0.50783	0.28843197	0.54859	0.27724168	0.50783	0.28843197	0.54858	-8.943	0.67329	D	.	.	0.185	0.42022	B	.;.;.	.;.;.	3.715587	0.53073	23.3	0.99604770556135558	0.74456	0.80506	0.40126	D	AEFBI	0.440438	0.49900	N	0.110078104043824	0.46933	2.926148	0.171421204741629	0.48289	3.046753	0.00436624500466336	0.10516	0.487112	0.14033	0	0.547309	0.14657	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	5.25	5.25	0.73169	1.322000	0.33295	7.875000	0.72177	0.665000	0.62972	0.799000	0.29708	1.000000	0.68203	0.881000	0.42162	0.0:0.0:0.1473:0.8527	11.740	0.51055	529	0.73716	Enkurin domain|Enkurin domain;Enkurin domain|Enkurin domain;Enkurin domain|Enkurin domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.001007	0.005051	0.002717	0.000000	0.000000	0.000000	0.000000	0.000000	0.08333	573.83	34	chr10	24984815	.	T	C	573.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.384;DP=231;ExcessHet=0;FS=2.178;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=9.89;ReadPosRankSum=-1.806;SOR=0.898	GT:AD:DP:GQ:PL	0/1:33,25:58:99:584,0,847	5	0	1	0
chr10	26566962	26566962	A	G	exonic	APBB1IP	.	nonsynonymous SNV	APBB1IP:NM_019043:exon15:c.A1475G:p.D492G	.	.	.	.	.	.	.	.	0.0079	0.1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.081	0.0718865945128	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	2.736e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.071	0.35165	T	0.342	0.17910	T	0.255	0.31319	B	0.071	0.27960	B	0.225014	0.16049	N	0.633204	0.995388	0.42667	D	2.295	0.65404	M	1.49	0.31470	T	-0.56	0.17003	N	0.221	0.24758	-1.0604	0.11656	T	0.088	0.34078	T	10	0.12987843	0.24714	T	0.071887	0.71389	D	0.081	0.23632	0.207	0.12356	0.480700223141	0.47699	0.3645293488699613	0.36366	0.703322537923	0.61263	0.431673765182	0.29437	T	0.007506	0.06912	T	-0.114124	0.34087	T	-0.401707	0.33186	T	0.754642367362976	0.43546	D	0.70393	0.31399	T	0.069747575	0.15308	0.06965358	0.14704	0.069747575	0.15307	0.06965358	0.14704	-2.896	0.09103	T	.	.	0.063	0.01387	B	.	.	2.077936	0.26430	17.11	0.98917798551817504	0.48491	0.86937	0.46332	D	AEFDBCI	0.379136	0.46227	N	-0.0400295566127693	0.40049	2.371819	0.0117536341087818	0.40260	2.399848	0.999881507723863	0.44867	0.732398	0.92422	0	0.743671	0.97443	0	0.606814	0.37721	0	0.63947	0.58350	0	.	.	4.77	4.77	0.60425	4.319000	0.58987	3.833000	0.40005	0.676000	0.76740	0.995000	0.38783	0.996000	0.32793	0.090000	0.17789	1.0:0.0:0.0:0.0	10.603	0.44569	638	0.64280	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	254.84	8	chr10	26566962	.	A	G	254.84	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.809;DP=87;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=16.99;ReadPosRankSum=-0.514;SOR=0.582	GT:AD:DP:GQ:PL	0/1:6,9:15:99:265,0,163	5	0	1	0
chr10	43119599	43119599	A	G	exonic	RET	.	nonsynonymous SNV	RET:NM_001355216:exon11:c.A1699G:p.K567E,RET:NM_020630:exon14:c.A2461G:p.K821E,RET:NM_020975:exon14:c.A2461G:p.K821E	Central hypoventilation syndrome, congenital, Autosomal dominant;Medullary thyroid carcinoma, Autosomal dominant;Multiple endocrine neoplasia IIA, Autosomal dominant;Multiple endocrine neoplasia IIB, Autosomal dominant;Pheochromocytoma, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	233787	Hereditary_cancer-predisposing_syndrome|Multiple_endocrine_neoplasia,_type_2|not_provided	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MONDO:MONDO:0019003,MedGen:C4048306,Orphanet:653|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.661	0.231341358346	.	.	8.952e-06	0	0	0	0	1.648e-05	0	0	6.5e-06	1	154602	rs749421642	4.109e-06	4.104e-06	5.451e-06	2.753e-06	5.396e-06	1.48e-06	9.7e-07	1.94e-06	1.28e-06	0	0	0	0	0	0	5.396e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.026	0.49613	D	0.096	0.39340	T	0.998	0.77913	D	0.989	0.80445	D	0.000000	0.84330	D	0.000000	1	0.81001	D	1.15	0.29295	L	-2.46	0.88924	D	-2.4	0.52776	N	0.754	0.77226	0.518	0.90793	D	0.694	0.89455	D	10	0.8548423	0.84676	D	0.231341	0.88271	D	0.661	0.87332	0.476	0.55342	0.927453779205	0.92671	0.806052344858762	0.80560	0.798016623358	0.66119	0.645067751408	0.59284	T	0.759417	0.93470	D	0.28566	0.81794	D	0.172555	0.81561	D	0.883037924766541	0.53318	D	0.89671	0.67517	D	0.78007454	0.82658	0.43577638	0.67053	0.78007454	0.82659	0.43577638	0.67053	-13.257	0.90393	D	0.6889786056512309	0.76642	0.441	0.61775	A	.;.	.;.	4.492685	0.70201	25.5	0.99790103893165871	0.87572	0.99043	0.90392	D	AEFDBI	0.934308	0.92749	D	0.447794120044196	0.64077	4.654427	0.441194699788883	0.64151	4.664081	0.999999999999322	0.74766	0.646311	0.45356	0	0.547309	0.14657	0	0.645312	0.48771	0	0.562822	0.20929	0	.	.	5.36	5.36	0.76624	9.277000	0.94963	11.184000	0.88420	0.691000	0.84096	1.000000	0.71638	1.000000	0.68203	0.844000	0.39860	1.0:0.0:0.0:0.0	15.342	0.74018	856	0.34373	Serine-threonine/tyrosine-protein kinase, catalytic domain|Protein kinase domain|Tyrosine-protein kinase, catalytic domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1071.83	33	chr10	43119599	.	A	G	1071.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.548;DP=275;ExcessHet=0;FS=4.178;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.61;ReadPosRankSum=-0.892;SOR=1.211	GT:AD:DP:GQ:PL	0/1:56,45:101:99:1082,0,1451	5	0	1	0
chr10	47368052	47368052	C	T	exonic	ZNF488	.	nonsynonymous SNV	ZNF488:NM_153034:exon2:c.G778A:p.A260T,ZNF488:NM_001346933:exon3:c.G778A:p.A260T,ZNF488:NM_001346934:exon3:c.G778A:p.A260T,ZNF488:NM_001346935:exon3:c.G778A:p.A260T,ZNF488:NM_001346936:exon3:c.G778A:p.A260T,ZNF488:NM_001346932:exon4:c.G778A:p.A260T	.	406	1110	5	1	0	7	0.00314324	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.067	0.00496418583911	.	.	.	.	.	.	.	.	.	.	.	.	.	rs199586477	0.0003	0.0003	0.0003	0.0003	0.0059	0.0003	0.0003	0.0053	0.0051	0	0.0001	0.0008	0.0059	1.874e-05	0.0005	0.0001	0.0006	0.0003	0.0004	0.0004	0.0004	0.0004	0.0064	0.0003	0.0003	0.0047	0.0041	0	0	0.0003	0.0012	0.0064	0	0	0.0002	0.0005	0	.	.	.	0.626	0.07292	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.29	0.25018	T	.	.	.	0.059	0.03069	.	.	.	.	.	.	.	0.024443477	0.00672	T	.	.	.	.	.	.	.	.	.	0.6311878731829843	0.63052	.	.	.	.	.	0.003922	0.03333	T	.	.	.	.	.	.	.	.	.	0.585741	0.23716	T	.	.	.	.	.	.	.	.	-5.117	0.38086	T	.	.	0.112	0.21803	B	.;.	.;.	1.114283	0.14994	11.50	.	.	.	.	.	.	0.108210	0.21534	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.084000	0.41249	0.972000	0.23065	0.599000	0.40250	1.000000	0.71638	0.991000	0.31484	0.325000	0.25087	.	.	.	976	0.04745	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1200.83	33	chr10	47368052	.	C	T	1200.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.677;DP=273;ExcessHet=0;FS=2.662;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.25;ReadPosRankSum=1.08;SOR=0.431	GT:AD:DP:GQ:PL	0/1:50,48:98:99:1211,0,1329	5	0	1	0
chr10	49664976	49664976	C	T	exonic	CHAT	.	nonsynonymous SNV	CHAT:NM_001142929:exon15:c.C1823T:p.P608L,CHAT:NM_020549:exon15:c.C2177T:p.P726L,CHAT:NM_020984:exon15:c.C1823T:p.P608L,CHAT:NM_020986:exon15:c.C1823T:p.P608L,CHAT:NM_001142933:exon16:c.C1931T:p.P644L,CHAT:NM_001142934:exon16:c.C1823T:p.P608L,CHAT:NM_020985:exon16:c.C1823T:p.P608L	Myasthenic syndrome, congenital, 6, presynaptic, Autosomal recessive	1	1518	3	0	0	3	0.000987167	.	.	.	359962	not_specified|Familial_infantile_myasthenia|not_provided|CHAT-related_disorder	MedGen:CN169374|MONDO:MONDO:0009689,MedGen:C0393929,OMIM:254210,Orphanet:590|MedGen:C3661900|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.187	0.0471522918698	0.0012	0.000199681	0.0011	0	0.0002	0	0.0018	0.0017	0.0011	0.0008	0.0010673	165	154602	rs79414242	0.0011	0.0011	0.0011	0.0012	0.0012	0.0011	0.0011	0.0011	0.0011	0.0002	0.0001	3.826e-05	0	0.0026	0.0003	0.0012	0.0008	0.0011	0.0012	0.0012	0.0012	0.0013	0.0022	0.0011	0.0010	0.0019	0.0018	9.622e-05	0	0.0001	0	0	0.0026	0	0.0022	0	0.0008	0.102	0.33585	T	0.328	0.25748	T	0.001	0.07471	B	0.0	0.01387	B	0.740211	0.06423	N	1.148380	1	0.08975	N	1.125	0.28843	L	-1.84	0.84341	D	-1.45	0.35597	N	0.116	0.10911	-0.7959	0.55386	T	0.322	0.69134	T	10	0.01008305	0.00226	T	0.047152	0.62792	D	0.187	0.46274	.	.	0.569101917167	0.56574	0.17111539016934874	0.17031	0.250849104377	0.27660	0.206684947014	0.00678	T	0.170957	0.51890	T	-0.482588	0.00714	T	-0.463369	0.26232	T	0.00713084886484166	0.00081	T	0.486851	0.14885	T	0.06914246	0.15124	0.04629967	0.06424	0.06914246	0.15124	0.04629967	0.06423	-4.761	0.34204	T	.	.	0.078	0.11027	B	.;.;.;.;.;.	.;.;.;.;.;.	-0.380193	0.02287	0.239	0.48274080512602852	0.04015	0.06859	0.12885	N	AEFDBI	0.129688	0.24796	N	-1.63793166826999	0.01087	0.04717315	-1.7257651848285	0.01028	0.04611638	0.994428037075145	0.33631	0.487112	0.14033	0	0.563428	0.19063	0	0.59043	0.30614	0	0.564101	0.26826	0	.	.	5.76	-8.55	0.00790	-0.668000	0.05369	-0.289000	0.10208	-0.818000	0.02990	0.000000	0.06391	0.000000	0.08366	0.020000	0.11549	0.1879:0.5807:0.0604:0.171	7.912	0.28960	778	0.48011	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	772.83	35	chr10	49664976	.	C	T	772.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.02;DP=215;ExcessHet=0;FS=1.323;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=16.8;ReadPosRankSum=-1.219;SOR=1.015	GT:AD:DP:GQ:PL	0/1:17,29:46:99:783,0,365	5	0	1	0
chr10	60139080	60139080	A	T	exonic	ANK3	.	nonsynonymous SNV	ANK3:NM_001149:exon2:c.T24A:p.D8E,ANK3:NM_001320874:exon24:c.T2622A:p.D874E,ANK3:NM_020987:exon24:c.T2622A:p.D874E,ANK3:NM_001204403:exon25:c.T2604A:p.D868E,ANK3:NM_001204404:exon25:c.T2625A:p.D875E	.	426	1084	12	0	0	12	0.00550459	.	.	.	1656190	ANK3-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.184	.	.	0.00299521	0.0028	0	8.657e-05	0	0	0	0	0.0208	0.0023932	370	154602	rs564078262	0.0013	0.0013	0.0007	0.0018	0.0203	0.0012	0.0012	0.0195	0.0192	2.993e-05	0	0	2.52e-05	0	0.0005	6.297e-06	0.0012	0.0203	0.0008	0.0008	0.0003	0.0012	0.0237	0.0006	0.0006	0.0201	0.0188	0	0	0	0	0	0	0	1.471e-05	0	0.0237	0.055	0.91255	T	0.256	0.92824	T	0.999	0.77913	D	0.991	0.79672	D	0.000548	0.43413	D	0.000000	0.999949	0.51968	D	2.035	0.55589	M	-0.25	0.67011	T	-3.91	0.73042	D	0.702	0.84922	-0.4236	0.71273	T	0.366	0.72628	T	10	0.008994967	0.00203	T	.	.	.	0.184	0.45763	0.23	0.15705	0.833616854505	0.83203	0.38732569898397035	0.38647	1.52304635375	0.87461	0.731369614601	0.71706	T	0.71737	0.91985	D	-0.176091	0.24318	T	-0.00946234	0.69720	D	0.131451412296852	0.15516	T	0.935306	0.80758	D	0.20115554	0.42116	0.25534868	0.51216	0.23102148	0.45867	0.2541328	0.51072	-4.362	0.29585	T	0.7339009400252959	0.81567	0.632	0.80970	P	.;.;.;.;.;.	.;.;.;.;.;.	2.345965	0.30070	18.32	0.99587688601317248	0.73395	0.80688	0.40262	D	AEFGBCI	0.620464	0.60552	D	0.087170156281739	0.45866	2.835983	0.104404969218638	0.44773	2.752652	0.999966195976818	0.48965	0.542737	0.22433	0	0.588066	0.40923	0	0.685571	0.62057	0	0.655142	0.61905	0	.	.	6.02	0.957	0.18736	2.269000	0.43005	0.253000	0.16451	0.756000	0.94297	1.000000	0.71638	0.257000	0.23957	0.996000	0.76049	0.7345:0.0:0.2655:0.0	9.966	0.40898	878	0.29785	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.001511	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.007576	0.08333	1160.83	36	chr10	60139080	.	A	T	1160.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.83;DP=271;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.5;ReadPosRankSum=-0.527;SOR=0.719	GT:AD:DP:GQ:PL	0/1:44,42:86:99:1171,0,1125	5	0	1	0
chr10	69233072	69233072	A	-	exonic	HKDC1	.	frameshift deletion	HKDC1:NM_025130:exon4:c.434delA:p.H145Lfs*8	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	2294.79	85	chr10	69233071	.	CA	C	2294.79	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.263;DP=407;ExcessHet=0;FS=1.393;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=17.79;ReadPosRankSum=0.127;SOR=0.84	GT:AD:DP:GQ:PL	0/1:62,67:129:99:2305,0,2100	5	0	1	0
chr10	70123442	70123442	T	A	exonic	AIFM2	.	nonsynonymous SNV	AIFM2:NM_001198696:exon3:c.A257T:p.D86V,AIFM2:NM_032797:exon3:c.A257T:p.D86V	.	430	1090	2	0	0	2	0.00091659	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.598	0.0684591405726	7.7e-05	0.000199681	0.0003	0	0	0.0001	0	0.0001	0	0.0016	0.0002393	37	154602	rs151032198	0.0002	0.0002	0.0001	0.0002	0.0021	0.0002	0.0002	0.0018	0.0017	0	4.472e-05	0	2.519e-05	1.872e-05	0.0007	5.845e-05	0.0003	0.0021	9.194e-05	9.187e-05	0.0001	8.058e-05	0.0008	5.525e-05	4.362e-05	0.0003	0.0002	0	0	0	0	0	9.425e-05	0	0.0001	0	0.0008	0.002	0.72154	D	0.002	0.79402	D	0.998	0.73220	D	0.971	0.72444	D	0.000006	0.62929	D	0.140285	1	0.81001	D	2.865	0.83145	M	0.54	0.54911	T	-6.43	0.91311	D	0.908	0.91047	-0.4365	0.70846	T	0.305	0.67593	T	10	0.47165102	0.59898	T	0.068459	0.70457	D	0.598	0.84074	.	.	0.770801067495	0.76870	0.8356493000059243	0.83524	0.616023320025	0.56080	0.473914831877	0.35219	T	0.356156	0.72305	T	-0.0124231	0.49926	T	0.202115	0.83245	D	0.544160962104797	0.34259	D	0.844715	0.52235	T	0.89270604	0.90740	0.81104136	0.88966	0.89270604	0.90741	0.81104136	0.88967	-11.831	0.84018	D	.	.	0.642	0.70584	P	.;.;.	.;.;.	4.918971	0.81005	27.4	0.99405312663734824	0.63028	0.95437	0.64717	D	AEFDBCI	0.856139	0.77334	D	0.651649430783787	0.76475	6.493485	0.607231825383903	0.75462	6.315104	0.999999999939606	0.74766	0.706298	0.61202	0	0.724815	0.89359	0	0.645312	0.48771	0	0.613276	0.41899	0	.	.	5.13	5.13	0.69729	7.353000	0.78667	7.795000	0.68990	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.955000	0.50612	0.0:0.0:0.0:1.0	14.934	0.70586	312	0.87382	FAD/NAD(P)-binding domain;FAD/NAD(P)-binding domain;FAD/NAD(P)-binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002518	0.000000	0.001359	0.002924	0.000000	0.000000	0.009146	0.000000	0.08333	994.83	35	chr10	70123442	.	T	A	994.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.075;DP=245;ExcessHet=0;FS=3.213;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.26;ReadPosRankSum=-1.025;SOR=0.386	GT:AD:DP:GQ:PL	0/1:33,42:75:99:1005,0,760	5	0	1	0
chr10	73136763	73136763	T	G	exonic	ECD	.	nonsynonymous SNV	ECD:NM_001135753:exon12:c.A1516C:p.M506L,ECD:NM_007265:exon13:c.A1645C:p.M549L,ECD:NM_001135752:exon14:c.A1744C:p.M582L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.260	0.0143555955946	.	.	8.236e-06	0	0	0	0	1.498e-05	0	0	6.5e-06	1	154602	rs757129776	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	0.932	0.51990	P	0.835	0.59863	P	0.000000	0.84330	D	0.000000	1	0.81001	D	.	.	.	1.88	0.23884	T	-2.92	0.61129	D	0.608	0.63459	-0.9312	0.43963	T	0.144	0.46696	T	10	0.8525817	0.84441	D	0.014356	0.34425	T	0.260	0.57221	0.836	0.94356	0.653256221078	0.65036	0.5431052245018763	0.54236	0.420894402933	0.42607	0.578733921051	0.49907	T	0.238597	0.60653	T	0.0437469	0.57535	T	-0.174937	0.56989	T	0.985818088054657	0.76699	D	0.816918	0.47860	T	0.80798715	0.84421	0.75828904	0.85717	0.80798715	0.84422	0.75828904	0.85718	-8.363	0.63518	D	.	.	0.388	0.62182	A	.;.;.	.;.;.	4.411807	0.68252	25.2	0.98156865626166534	0.38738	0.98188	0.80368	D	AEFDGBI	0.635621	0.61507	D	0.657144464044871	0.76834	6.559746	0.662220618630041	0.79523	7.100576	0.999967277518229	0.48965	0.719381	0.83141	0	0.723133	0.82719	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.55	5.55	0.83298	6.635000	0.74153	7.806000	0.69288	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:0.0:1.0	13.637	0.61698	905	0.23532	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1106.83	43	chr10	73136763	.	T	G	1106.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.31;DP=265;ExcessHet=0;FS=0.854;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.66;ReadPosRankSum=-0.683;SOR=0.536	GT:AD:DP:GQ:PL	0/1:33,48:81:99:1117,0,633	5	0	1	0
chr10	79849996	79849996	C	T	exonic	NUTM2E	.	nonsynonymous SNV	NUTM2E:NM_001355263:exon10:c.C2027T:p.T676M	.	655	797	60	10	0	80	0.0477897	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.00752286326415	.	.	.	.	.	.	.	.	.	.	0.0001153	3	26028	rs1283256334	0.0013	0.0083	0.0011	0.0015	0.0100	0.0012	0.0012	0.0090	0.0087	0.0013	0.0044	0.0013	0.0100	0.0010	0.0015	0.0007	0.0017	0.0018	0.0010	0.0073	0.0010	0.0011	0.0016	0.0008	0.0008	0.0012	0.0011	0.0016	0	0.0009	0.0005	0.0016	0.0002	0	0.0008	0	0.0010	0.906	0.02389	T	0.483	0.11795	T	.	.	.	.	.	.	0.049797	0.02003	N	2.004150	1	0.08975	N	.	.	.	2.81	0.10975	T	0.09	0.05917	N	0.059	0.03069	-0.9915	0.32218	T	0.014	0.05417	T	7	0.053594023	0.05576	T	0.007523	0.19952	T	0.003	0.00094	0.144	0.04746	0.107399877778	0.10242	0.08661387145835503	0.08595	.	.	.	.	.	0.00283	0.02227	T	-0.43608	0.01364	T	-0.864175	0.00799	T	0.0317004563033394	0.02258	T	0.430757	0.11694	T	0.012236715	0.00030	0.025865948	0.00648	0.012236715	0.00030	0.025865948	0.00647	-5.039	0.37261	T	.	.	0.077	0.06479	B	.	.	-0.445032	0.02050	0.187	0.13272315138501015	0.00256	0.00045	0.00362	N	AEFI	0.014412	0.00228	N	-1.34859579757259	0.03140	0.1397655	-1.57937064157927	0.01781	0.08108524	5.67193482380288E-6	0.01202	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.844	-1.69	0.07747	-3.458000	0.00516	-20.000000	0.00162	-1.652000	0.00824	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.3413:0.0:0.6587	5.420	0.15696	729	0.54495	Nuclear Testis  protein, N-terminal	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1	37.75	37	chr10	79849996	.	C	T	37.75	.	AC=1;AF=0.1;AN=10;BaseQRankSum=1.51;DP=192;ExcessHet=0;FS=5.12;MLEAC=1;MLEAF=0.1;MQ=33.96;MQRankSum=-2.434;QD=0.9;ReadPosRankSum=-0.72;SOR=2.212	GT:AD:DP:GQ:PL	0/1:36,6:42:47:47,0,887	4	0	1	1
chr10	93579178	93579178	A	G	exonic	FFAR4	.	nonsynonymous SNV	FFAR4:NM_181745:exon3:c.A716G:p.D239G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.061	0.0137919787355	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1021673956	9.577e-06	9.577e-06	1.089e-05	8.251e-06	0.0005	5.56e-06	4.35e-06	0.0001	7.541e-05	0	0	0	0	0	0.0005	9.893e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.509	0.07521	T	0.253	0.23501	T	0.0	0.02946	B	0.0	0.01387	B	0.015602	0.01421	N	2.957200	1	0.08975	N	-0.69	0.01958	N	-0.6	0.71662	T	0.21	0.04776	N	0.174	0.18649	-1.0483	0.14875	T	0.150	0.47804	T	10	0.051296085	0.04988	T	0.013792	0.33457	T	0.061	0.17616	0.408	0.44230	0.195762928549	0.19159	0.5709901508735257	0.57027	0.689680565843	0.60497	0.306136578321	0.11324	T	0.018028	0.14606	T	-0.210242	0.19345	T	-0.539775	0.18318	T	0.055655882618731	0.06466	T	0.355164	0.08047	T	0.0209105	0.00668	0.033022486	0.02131	0.0209105	0.00668	0.033022486	0.02130	.	.	.	.	.	0.109	0.20663	B	.	.	-0.341394	0.02441	0.278	0.56357177541158499	0.05535	0.01269	0.04444	N	AEFDGBHCI	0.036514	0.04877	N	-1.46947084342636	0.02068	0.09094408	-1.55181083327868	0.01964	0.08965596	0.999999970804544	0.74766	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	3.39	-3.95	0.03844	-0.963000	0.03947	-1.139000	0.06214	-0.677000	0.04263	0.000000	0.06391	0.000000	0.08366	0.006000	0.07323	0.2579:0.3444:0.2286:0.169	0.876	0.01147	237	0.90758	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	951.83	34	chr10	93579178	.	A	G	951.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.959;DP=267;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.35;ReadPosRankSum=1.17;SOR=0.693	GT:AD:DP:GQ:PL	0/1:46,46:92:99:962,0,1100	5	0	1	0
chr10	94357327	94357327	G	C	exonic	NOC3L	.	nonsynonymous SNV	NOC3L:NM_022451:exon4:c.C355G:p.P119A	.	435	1074	12	1	0	14	0.00647549	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.186	0.0293336462056	0.0018	0.000798722	0.0015	0.0006	0.0007	0	0.0006	0.0023	0	0.0009	0.0015459	239	154602	rs45484894	0.0021	0.0021	0.0022	0.0021	0.0025	0.0021	0.0021	0.0024	0.0024	0.0004	0.0013	0.0009	0	0.0004	0.0016	0.0025	0.0022	0.0008	0.0018	0.0018	0.0018	0.0018	0.0035	0.0016	0.0016	0.0027	0.0025	0.0004	0.0241	0.0035	0.0014	0	0.0002	0	0.0026	0.0028	0	0.172	0.22660	T	0.05	0.48080	T	0.997	0.70673	D	0.931	0.66596	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.085	0.57729	M	2.76	0.11515	T	-2.13	0.48354	N	0.464	0.50056	-1.0564	0.12672	T	0.044	0.19111	T	10	0.007900178	0.00179	T	0.029334	0.51865	D	0.186	0.46104	.	.	0.570615151236	0.56727	0.1157346242337762	0.11501	0.381205266977	0.39485	0.527722239494	0.42714	T	0.008842	0.08085	T	-0.408779	0.02025	T	-0.363637	0.37630	T	0.0362242572009563	0.03020	T	0.914509	0.69499	D	0.12627068	0.29579	0.13693327	0.32746	0.12627068	0.29578	0.13693327	0.32745	-4.003	0.23849	T	.	.	0.099	0.16494	B	.	.	3.663444	0.52058	23.2	0.98909315754772842	0.48345	0.99663	0.98459	D	AEFDGBI	0.823444	0.74356	D	0.344724101682489	0.58461	4.018535	0.333513068192767	0.57519	3.918014	0.999999999996242	0.74766	0.732398	0.92422	0	0.688494	0.66719	0	0.65145	0.50148	0	0.727631	0.95156	0	.	.	5.16	5.16	0.70563	7.514000	0.80644	8.584000	0.77658	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.973000	0.55318	0.0:0.0:1.0:0.0	19.023	0.92900	411	0.82069	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002022	0.000000	0.001359	0.008824	0.000000	0.000000	0.000000	0.000000	0.08333	672.83	21	chr10	94357327	.	G	C	672.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.07;DP=166;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=15.29;ReadPosRankSum=0.059;SOR=0.826	GT:AD:DP:GQ:PL	0/1:21,23:44:99:683,0,539	5	0	1	0
chr10	94780535	94780535	C	T	exonic	CYP2C19	.	nonsynonymous SNV	CYP2C19:NM_000769:exon4:c.C518T:p.A173V	Clopidogrel, impaired responsiveness to, Autosomal recessive;Mephenytoin poor metabolizer, Autosomal recessive;Omeprazole poor metabolizer, Autosomal recessive;Proguanil poor metabolizer, Autosomal recessive	4	1503	15	0	0	15	0.00496524	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.157	.	7.7e-05	0.00858626	0.0058	9.614e-05	8.672e-05	0.0001	0	7.493e-05	0.0011	0.0422	0.0049999	773	154602	rs61311738	0.0025	0.0025	0.0014	0.0035	0.0389	0.0024	0.0024	0.0378	0.0374	0.0001	0.0001	0	7.559e-05	0	0.0018	2.788e-05	0.0031	0.0389	0.0012	0.0012	0.0006	0.0019	0.0375	0.0011	0.0010	0.0330	0.0313	2.406e-05	0	0	0	0.0004	0	0	0	0.0005	0.0375	0.093	0.31532	T	0.081	0.41742	T	.	.	.	.	.	.	0.010099	0.30071	U	0.264081	0.919386	0.27329	N	.	.	.	2.69	0.12268	T	-3.0	0.62343	D	0.486	0.52029	-1.0118	0.26353	T	0.047	0.19958	T	10	0.0062849224	0.00142	T	.	.	.	0.157	0.40909	.	.	0.419090007872	0.41522	0.14859636114736183	0.14781	0.00935334602833	0.00849	0.445326000452	0.31305	T	.	.	.	-0.437213	0.01343	T	-0.370816	0.36793	T	0.11159114770153	0.13587	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.460	0.62718	A	.	.	2.425344	0.31191	18.67	0.99728455991350218	0.82549	0.88033	0.47787	D	AEFI	0.753711	0.69381	D	0.406581850665425	0.61784	4.384209	0.379467644466506	0.60300	4.216094	0.00127746037205155	0.08400	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.13	4.13	0.47661	4.085000	0.57380	1.942000	0.29835	0.527000	0.24520	0.998000	0.41325	0.951000	0.29025	0.976000	0.56436	0.0:0.7943:0.2057:0.0	10.092	0.41629	543	0.72751	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.002518	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.007576	0.08333	726.83	34	chr10	94780535	.	C	T	726.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.306;DP=225;ExcessHet=0;FS=1.032;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.75;ReadPosRankSum=-0.936;SOR=0.859	GT:AD:DP:GQ:PL	0/1:27,30:57:99:737,0,615	5	0	1	0
chr10	100329878	100329878	C	A	exonic	PKD2L1	.	nonsynonymous SNV	PKD2L1:NM_001253837:exon1:c.G63T:p.K21N,PKD2L1:NM_016112:exon1:c.G226T:p.G76C	.	371	1121	29	1	0	31	0.0136384	.	.	.	701136	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.024	0.0190395566659	0.0041	0.00319489	0.0048	0.0009	0.0036	0.0001	0.0011	0.0058	0.0046	0.0090	0.0047153	729	154602	rs117403721	0.0054	0.0054	0.0052	0.0055	0.0082	0.0053	0.0052	0.0077	0.0075	0.0009	0.0044	0.0145	0	0.0008	0.0047	0.0055	0.0061	0.0082	0.0036	0.0036	0.0036	0.0036	0.0072	0.0033	0.0033	0.0054	0.0047	0.0007	0	0.0043	0.0153	0	0.0007	0.0034	0.0051	0.0024	0.0072	0.004	0.65419	D	0.026	0.55759	D	0.019	0.17989	B	0.019	0.18783	B	0.385893	0.13323	N	0.731827	1	0.08975	N	2.175	0.60977	M	0.24	0.59583	T	-4.23	0.75935	D	0.216	0.24135	-1.0067	0.27943	T	0.068	0.27811	T	10	0.008423835	0.00191	T	0.01904	0.41292	T	0.108	0.30607	.	.	0.594169782683	0.59095	0.5379647314443091	0.53721	0.0728802315948	0.08163	0.318361461163	0.13173	T	0.244	0.61351	T	-0.374388	0.03378	T	-0.306414	0.44044	T	0.0347109965057643	0.02759	T	0.60444	0.22695	T	0.34537587	0.56705	0.23732647	0.49026	0.34537587	0.56705	0.23732647	0.49025	-6.936	0.53566	T	.	.	0.090	0.12465	B	.	.	0.834622	0.12059	8.616	0.47285426592381663	0.03854	0.10713	0.16140	N	AEFBI	0.091783	0.18588	N	-0.741407035168357	0.14869	0.7443333	-0.88933998396654	0.12346	0.6345305	0.0154833805528523	0.12719	0.446893	0.09132	0	0.563428	0.19063	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	4.95	-0.397	0.11804	0.194000	0.16941	-1.528000	0.05238	-0.176000	0.10722	0.057000	0.21666	0.000000	0.08366	0.022000	0.11911	0.1392:0.5447:0.0:0.316	5.054	0.13859	736	0.53558	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.009567	0.010101	0.012228	0.005848	0.000000	0.000000	0.009146	0.011364	0.08333	307.83	33	chr10	100329878	.	C	A	307.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.618;DP=213;ExcessHet=0;FS=1.256;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=6.55;ReadPosRankSum=-1.071;SOR=0.456	GT:AD:DP:GQ:PL	0/1:33,14:47:99:318,0,846	5	0	1	0
chr10	101011756	101011756	G	A	exonic	PDZD7	.	nonsynonymous SNV	PDZD7:NM_001195263:exon14:c.C1939T:p.P647S	Usher syndrome, type IIC, GPR98/PDZD7 digenic, Autosomal recessive, Digenic dominant	0	1521	1	0	0	1	0.000328623	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.035	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.569e-06	6.566e-06	1.284e-05	0	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	.	.	.	0.757	0.04686	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.123	0.11483	-1.0695	0.09523	T	0.104	0.38218	T	5	0.1710498	0.31802	T	.	.	.	.	.	.	.	0.082315109003	0.07666	0.2317196885003021	0.23086	.	.	0.420015692711	0.27838	T	.	.	.	-0.105417	0.35528	T	-0.389201	0.34645	T	0.823103070259094	0.48004	D	0.756024	0.37907	T	0.060956266	0.12567	0.111249484	0.26834	0.060956266	0.12567	0.111249484	0.26833	0.704	0.00175	T	0.042093098795531234	0.00426	0.088	0.11845	B	.;.	.;.	2.813368	0.37040	20.4	0.781694003484533	0.12185	0.76368	0.37449	D	AEFDGBHCI	.	.	.	-0.208093499306853	0.32801	1.85394	-0.183185047255689	0.32154	1.826514	0.999999999999901	0.74766	0.089122	0.02304	2	0.090787	0.02525	0	0.076361	0.02342	2	0.057841	0.00900	0	0.307577	0.35022	5.3	3.44	0.38486	3.174000	0.50548	8.536000	0.77474	0.672000	0.70159	1.000000	0.71638	1.000000	0.68203	0.722000	0.34836	0.3135:0.0:0.6865:0.0	5.842	0.17892	556	0.71678	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	665.83	34	chr10	101011756	.	G	A	665.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.754;DP=218;ExcessHet=0;FS=2.434;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.32;ReadPosRankSum=-1.34;SOR=1.091	GT:AD:DP:GQ:PL	0/1:25,25:50:99:676,0,696	5	0	1	0
chr10	102416872	102416872	C	T	exonic	PSD	.	nonsynonymous SNV	PSD:NM_002779:exon2:c.G167A:p.R56Q,PSD:NM_001270965:exon3:c.G167A:p.R56Q	.	411	1109	2	0	0	2	0.000900901	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.031	0.0105776259829	7.7e-05	.	9.173e-06	0.0001	0	0	0	0	0	0	6.5e-06	1	154602	rs145555113	4.835e-06	4.788e-06	8.237e-06	1.39e-06	2.523e-05	2.01e-06	1.29e-06	8.5e-07	5.7e-07	0	0	0	2.523e-05	0	0	3.615e-06	1.67e-05	1.183e-05	6.577e-06	6.568e-06	1.286e-05	0	2.416e-05	0	0	.	.	2.416e-05	0	0	0	0	0	0	0	0	0	0.061	0.37118	T	0.334	0.18340	T	0.0	0.02946	B	0.0	0.01387	B	0.058007	0.22436	N	0.299507	1	0.08975	N	0.345	0.11182	N	2.01	0.21291	T	-0.56	0.17003	N	0.07	0.04307	-0.9947	0.31379	T	0.022	0.09513	T	10	0.061458766	0.07708	T	0.010578	0.27281	T	0.031	0.07369	.	.	0.0934897674506	0.08844	0.13521544631936466	0.13445	0.258141226589	0.28371	0.56145632267	0.47473	T	0.026162	0.19419	T	-0.360188	0.04119	T	-0.570518	0.15403	T	0.130159077983956	0.15397	T	0.772323	0.40326	T	0.089858636	0.21009	0.056232598	0.10010	0.089858636	0.21008	0.056232598	0.10010	-4.207	0.26853	T	.	.	0.081	0.08417	B	.;.	.;.	2.670758	0.34820	19.73	0.99808945382714409	0.89264	0.36362	0.25516	N	AEFBI	0.218822	0.34378	N	-0.564126691854034	0.20043	1.053667	-0.398686004644705	0.25036	1.374482	0.0228118147750914	0.13460	0.646311	0.45356	0	0.610034	0.51514	0	0.645312	0.48771	0	0.542086	0.14980	0	.	.	5.08	1.99	0.25423	0.772000	0.26309	1.715000	0.28221	0.524000	0.24156	0.316000	0.25468	1.000000	0.68203	0.997000	0.79791	0.3787:0.5404:0.0:0.0808	7.497	0.26661	750	0.51762	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	794.83	39	chr10	102416872	.	C	T	794.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.11;DP=258;ExcessHet=0;FS=0.876;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.46;ReadPosRankSum=-0.376;SOR=0.559	GT:AD:DP:GQ:PL	0/1:42,34:76:99:805,0,969	5	0	1	0
chr10	104146328	104146328	G	A	exonic	CFAP43	.	nonsynonymous SNV	CFAP43:NM_025145:exon30:c.C3790T:p.R1264W	.	432	1080	10	0	0	10	0.00460829	.	.	.	2809599	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.103	0.00869767822352	0.0025	0.000998403	0.0023	0.0007	0.0003	0	0.0051	0.0031	0.0022	0.0021	0.0021863	338	154602	rs148204337	0.0024	0.0024	0.0024	0.0023	0.0026	0.0023	0.0023	0.0025	0.0025	0.0001	0.0004	7.656e-05	5.043e-05	0.0043	0.0010	0.0026	0.0021	0.0021	0.0020	0.0020	0.0021	0.0020	0.0029	0.0019	0.0018	0.0026	0.0025	0.0007	0	0.0007	0	0.0002	0.0052	0.0170	0.0029	0.0024	0.0019	0.029	0.45756	D	0.067	0.44302	T	0.986	0.61523	D	0.646	0.52296	P	0.334881	0.04153	N	1.482540	0.999984	0.26120	N	.	.	.	2.47	0.14783	T	-2.69	0.57435	D	0.207	0.22998	-1.0394	0.17495	T	0.050	0.21222	T	10	0.005390644	0.00118	T	0.008698	0.22976	T	0.103	0.29403	.	.	0.481246930725	0.47757	0.2218161388977383	0.22096	0.464487243268	0.45918	0.209568366408	0.00793	T	0.060838	0.31495	T	-0.518233	0.00450	T	-0.519918	0.20302	T	0.0178767618346566	0.00514	T	0.845215	0.52386	T	0.09859291	0.23256	0.12702441	0.30585	0.09859291	0.23256	0.12702441	0.30584	-7.168	0.55251	T	.	.	0.101	0.17657	B	.	.	3.838964	0.55534	23.6	0.99644806089669891	0.76881	0.52538	0.29155	D	AEFDBIJ	0.319492	0.42288	N	0.280594172697375	0.55164	3.680835	0.300587460168061	0.55574	3.720345	0.00736178628690586	0.11448	0.603402	0.35316	0	0.59043	0.45803	0	0.547309	0.15389	0	0.663205	0.64265	0	.	.	6.07	5.0	0.66209	1.774000	0.38203	3.832000	0.40000	0.676000	0.76740	0.841000	0.30301	1.000000	0.68203	0.271000	0.23793	0.0847:0.0:0.6587:0.2566	7.726	0.27928	70	0.97015	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.003021	0.005051	0.000000	0.002924	0.000000	0.008621	0.006098	0.000000	0.08333	1011.83	37	chr10	104146328	.	G	A	1011.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=3.51;DP=275;ExcessHet=0;FS=5.1;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.32;ReadPosRankSum=1.15;SOR=1.197	GT:AD:DP:GQ:PL	0/1:58,40:98:99:1022,0,1311	5	0	1	0
chr10	113578074	113578074	C	T	exonic	HABP2	.	nonsynonymous SNV	HABP2:NM_001177660:exon6:c.C419T:p.S140F,HABP2:NM_004132:exon6:c.C497T:p.S166F	.	.	.	.	.	.	.	.	.	.	.	309526	Factor_VII_Marburg_I_Variant_Thrombophilia	MedGen:CN068943	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.039	.	0.0015	0.00219649	0.0012	0.0002	0.0044	0	0	0.0013	0.0033	0	0.0011643	180	154602	rs142936446	0.0014	0.0014	0.0015	0.0014	0.0034	0.0014	0.0014	0.0029	0.0028	0.0002	0.0034	3.826e-05	0	9.36e-05	0.0005	0.0016	0.0016	1.159e-05	0.0013	0.0013	0.0013	0.0012	0.0042	0.0012	0.0011	0.0034	0.0031	0.0003	0	0.0042	0.0003	0	9.422e-05	0	0.0017	0.0024	0	0.705	0.04120	T	0.704	0.05685	T	0.02	0.18235	B	0.017	0.18140	B	0.799929	0.09331	N	0.921364	1	0.08975	N	1.01	0.25309	L	0.52	0.55266	T	-1.81	0.42957	N	0.322	0.36254	-1.0158	0.25078	T	0.050	0.21261	T	10	0.012851387	0.00275	T	.	.	.	0.078	0.22779	.	.	0.430351802785	0.42654	0.48801848392312974	0.48721	0.00964238325982	0.00877	0.270419538021	0.06196	T	0.281899	0.65463	T	-0.50749	0.00519	T	-0.497745	0.22583	T	0.022144407373998	0.00925	T	0.681032	0.28992	T	0.070699215	0.15593	0.0775542	0.17287	0.09281596	0.21785	0.07862842	0.17628	-5.993	0.47117	T	.	.	0.102	0.18122	B	.;.	.;.	1.754809	0.22323	15.57	0.12867999933095539	0.00236	0.02469	0.06929	N	AEFBI	0.401408	0.47591	N	-0.996852897544678	0.08671	0.4074256	-0.954028679916274	0.10830	0.5480017	5.83863823595921E-4	0.07390	0.487112	0.14033	0	0.547309	0.14657	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.42	2.27	0.27501	0.078000	0.14615	2.756000	0.34570	0.599000	0.40250	0.000000	0.06391	0.994000	0.32194	0.344000	0.25523	0.1624:0.4775:0.1188:0.2413	2.155	0.03576	903	0.23940	.;EGF-like domain|EGF-like domain|EGF-like calcium-binding domain|EGF-like domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.000504	0.005051	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.08333	1407.83	37	chr10	113578074	.	C	T	1407.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.615;DP=317;ExcessHet=0;FS=1.348;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.2;ReadPosRankSum=-0.666;SOR=0.717	GT:AD:DP:GQ:PL	0/1:73,65:138:99:1418,0,1748	5	0	1	0
chr10	113614862	113614862	C	T	exonic	NRAP	.	nonsynonymous SNV	NRAP:NM_001322945:exon27:c.G3055A:p.A1019T,NRAP:NM_006175:exon27:c.G3058A:p.A1020T,NRAP:NM_001261463:exon28:c.G3163A:p.A1055T,NRAP:NM_198060:exon28:c.G3163A:p.A1055T	.	425	1085	10	2	0	14	0.00641026	.	.	.	712162	not_specified|not_provided|NRAP-related_disorder	MedGen:CN169374|MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.112	.	0.0050	0.00279553	0.0051	0.0004	0.0072	0.0001	0.0009	0.0073	0.0055	0.0021	0.0051487	796	154602	rs139118719	0.0062	0.0063	0.0061	0.0062	0.0121	0.0061	0.0060	0.0099	0.0090	0.0011	0.0073	0.0079	5.041e-05	0.0005	0.0121	0.0070	0.0062	0.0024	0.0045	0.0045	0.0050	0.0040	0.0074	0.0042	0.0041	0.0064	0.0061	0.0010	0	0.0074	0.0084	0.0002	0.0003	0.0068	0.0069	0.0085	0.0021	0.111	0.51853	T	0.142	0.33894	T	0.018	0.22415	B	0.073	0.35299	B	0.000037	0.55875	D	0.161520	0.99766	0.81001	D	2.335	0.66956	M	0.83	0.47815	T	-1.82	0.65397	N	0.164	0.20925	-0.9606	0.39068	T	0.121	0.42208	T	10	0.009595424	0.00216	T	.	.	.	0.112	0.31546	.	.	0.561829309373	0.55845	0.32912861879030664	0.32825	0.09311429178	0.10522	0.469293773174	0.34583	T	0.045488	0.27138	T	-0.41461	0.01853	T	-0.357947	0.38290	T	0.0260951827841921	0.01419	T	0.888611	0.61875	D	0.14094037	0.32497	0.16774505	0.38681	0.14094037	0.32497	0.16774505	0.38680	-7.538	0.57877	D	.	.	0.111	0.22573	B	.;.;.;.	.;.;.;.	2.798403	0.36809	20.3	0.99786193519641553	0.87219	0.93823	0.59293	D	AEFBI	0.561457	0.56944	D	0.0283614516438598	0.43148	2.61345	0.177607231519528	0.48621	3.075718	0.999984277783332	0.51787	0.497415	0.19182	0	0.563428	0.19063	0	0.491513	0.07944	0	0.542086	0.14980	0	.	.	5.66	4.75	0.59954	2.178000	0.42148	2.232000	0.31540	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.0:0.9303:0.0:0.0697	14.878	0.70144	928	0.17405	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.008056	0.015152	0.009511	0.002924	0.000000	0.000000	0.009146	0.011364	0.08333	1442.83	35	chr10	113614862	.	C	T	1442.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.489;DP=311;ExcessHet=0;FS=2.214;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.53;ReadPosRankSum=-0.683;SOR=0.952	GT:AD:DP:GQ:PL	0/1:78,59:137:99:1453,0,1999	5	0	1	0
chr10	116325076	116325076	G	A	exonic	CCDC172	.	nonsynonymous SNV	CCDC172:NM_198515:exon2:c.G65A:p.R22H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.138	0.0106685487072	.	.	8.258e-06	0	0	0.0001	0	0	0	0	6.5e-06	1	154602	rs748847947	6.841e-06	6.84e-06	2.723e-06	1.1e-05	0.0003	3.46e-06	2.52e-06	8.198e-05	5.784e-05	0	0	0	0.0002	0	0.0003	0	1.656e-05	0	6.573e-06	6.567e-06	1.285e-05	0	2.413e-05	0	0	.	.	2.413e-05	0	0	0	0	0	0	0	0	0	0.011	0.55530	D	0.021	0.58089	D	0.119	0.26641	B	0.047	0.24832	B	0.013958	0.28682	N	0.304896	0.94508	0.26671	N	2.71	0.79292	M	.	.	.	-1.89	0.44094	N	0.158	0.16447	-0.8824	0.49569	T	0.141	0.46165	T	9	0.12031144	0.22786	T	0.010669	0.27473	T	0.138	0.37187	0.402	0.43245	0.499727662827	0.49609	0.22739541842640978	0.22654	0.273329347669	0.29833	0.421858787537	0.28092	T	0.206434	0.56577	T	-0.314422	0.07364	T	-0.424994	0.30505	T	0.525991260918763	0.33586	D	0.759024	0.38317	T	0.09211276	0.21602	0.07256444	0.15669	0.09211276	0.21602	0.07256444	0.15669	-5.016	0.37013	T	.	.	0.133	0.28807	B	.	.	4.055146	0.60141	24.2	0.99902299918929649	0.97350	0.77623	0.38187	D	AEFDBCI	0.277826	0.39225	N	-0.242625919668485	0.31399	1.760195	-0.236793024660004	0.30228	1.700232	0.996671267570115	0.34917	0.487112	0.14033	0	0.573888	0.26702	0	0.587068	0.30358	0	0.564101	0.26826	0	.	.	5.41	4.51	0.54589	1.693000	0.37360	8.438000	0.77188	0.676000	0.76740	0.137000	0.23458	1.000000	0.68203	0.961000	0.51904	0.0918:0.0:0.9082:0.0	10.207	0.42294	868	0.31772	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1653.83	34	chr10	116325076	.	G	A	1653.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.52;DP=368;ExcessHet=0;FS=3.858;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.95;ReadPosRankSum=0.526;SOR=0.452	GT:AD:DP:GQ:PL	0/1:84,67:151:99:1664,0,2065	5	0	1	0
chr10	122951983	122951983	C	T	exonic	C10orf88	.	nonsynonymous SNV	C10orf88:NM_024942:exon3:c.G412A:p.E138K	.	573	945	3	1	0	5	0.00263852	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.106	0.00485322877286	0.0007	0.000599042	0.0015	0	0.0007	0	0	0.0021	0.0038	0.0020	0.0011902	184	154602	rs150582565	0.0010	0.0010	0.0009	0.0011	0.0114	0.0009	0.0009	0.0091	0.0083	3.187e-05	0.0008	0.0076	0	0	0.0114	0.0008	0.0015	0.0020	0.0010	0.0010	0.0011	0.0009	0.0027	0.0009	0.0008	0.0021	0.0019	7.224e-05	0	0.0027	0.0043	0	9.457e-05	0.0034	0.0012	0.0024	0.0010	0.007	0.59928	D	0.009	0.66756	D	0.513	0.37366	P	0.096	0.30313	B	0.032546	0.25014	U	0.271410	0.987171	0.40547	D	1.765	0.45800	L	.	.	.	-3.42	0.67241	D	0.534	0.56231	-0.5133	0.68165	T	0.234	0.60063	T	9	0.006667465	0.00151	T	0.004853	0.12161	T	0.106	0.30130	.	.	0.496957384516	0.49330	0.5614624265725	0.56073	0.148761713675	0.16777	.	.	.	0.340236	0.70928	T	-0.278585	0.10817	T	-0.197572	0.54878	T	0.0409505058151343	0.03863	T	0.757724	0.38135	T	0.35918906	0.57774	0.31503505	0.57492	0.35918906	0.57774	0.31503505	0.57491	-6.238	0.48229	T	.	.	0.210	0.43775	B	.	.	3.332817	0.45886	22.2	0.99777545990360517	0.86433	0.94415	0.61092	D	AEFDBI	0.585688	0.58402	D	0.223032507511305	0.52316	3.406625	0.275391759491298	0.54107	3.576679	0.999999599990043	0.74766	0.643511	0.44296	0	0.627608	0.54475	0	0.658983	0.55881	0	0.631631	0.49550	0	.	.	4.73	4.73	0.59485	4.903000	0.62964	.	.	0.544000	0.25403	1.000000	0.71638	1.000000	0.68203	0.954000	0.50415	0.0:1.0:0.0:0.0	15.472	0.75176	905	0.23532	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.004536	0.000000	0.005435	0.002924	0.050000	0.000000	0.009202	0.000000	0.08333	276.83	26	chr10	122951983	.	C	T	276.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.035;DP=122;ExcessHet=0;FS=1.58;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.65;ReadPosRankSum=1.77;SOR=1.104	GT:AD:DP:GQ:PL	0/1:13,13:26:99:287,0,288	5	0	1	0
chr10	124989543	124989543	T	C	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon9:c.A1517G:p.N506S,CTBP2:NM_022802:exon9:c.A2933G:p.N978S,CTBP2:NM_001321013:exon10:c.A1313G:p.N438S,CTBP2:NM_001083914:exon11:c.A1313G:p.N438S,CTBP2:NM_001290214:exon11:c.A1313G:p.N438S,CTBP2:NM_001290215:exon11:c.A1313G:p.N438S,CTBP2:NM_001321012:exon11:c.A1313G:p.N438S,CTBP2:NM_001321014:exon11:c.A1313G:p.N438S,CTBP2:NM_001329:exon11:c.A1313G:p.N438S	.	430	785	300	7	0	314	0.166667	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.362	0.0412206901109	.	.	.	.	.	.	.	.	.	.	0.0011526	30	26028	rs75839774	4.107e-06	4.104e-06	5.449e-06	2.752e-06	4.497e-06	1.48e-06	9.7e-07	1.32e-06	9.6e-07	0	0	0	0	0	0	4.497e-06	1.658e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.048	0.61437	D	0.553	0.32461	T	0.017	0.35330	B	0.044	0.44683	B	0.040786	0.24019	N	0.433304	0.546531	0.31369	N	1.1	0.28011	L	-1.58	0.82806	D	-0.98	0.25986	N	0.097	0.39153	-0.2662	0.75916	T	0.330	0.69766	T	10	0.12751639	0.24250	T	0.041221	0.59806	D	0.362	0.68230	0.075	0.00517	0.760080849401	0.75790	0.26369227103169535	0.26282	1.68067603589	0.89969	0.448414385319	0.31727	T	0.157679	0.50038	T	0.0363132	0.56560	T	-0.185615	0.55999	T	0.436808287713247	0.30312	T	0.90311	0.67973	D	0.08655811	0.20123	0.08484771	0.19547	0.08655811	0.20122	0.08484771	0.19547	-2.304	0.04577	T	.	.	0.070	0.03588	B	.;.;.;.;.;.	.;.;.;.;.;.	2.477890	0.31950	18.89	0.9913628706847909	0.53410	0.86806	0.46168	D	AEFDGBCI	0.540087	0.55679	D	-0.275999058280499	0.30077	1.67381	-0.0903501737703044	0.35788	2.074695	0.999999280419097	0.74766	0.722319	0.85440	0	0.00446	0.00028	3	0.702456	0.68683	0	0.735409	0.98432	0	.	.	5.12	3.98	0.45383	2.629000	0.46152	0.448000	0.18493	0.665000	0.62972	1.000000	0.71638	0.999000	0.35428	1.000000	0.97212	0.0:0.0728:0.0:0.9272	11.061	0.47165	940	0.13648	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	3886.55	86	chr10	124989543	.	T	C	3886.55	.	AC=6;AF=0.5;AN=12;BaseQRankSum=-2.798;DP=634;ExcessHet=11.5949;FS=16.072;MLEAC=6;MLEAF=0.5;MQ=50.35;MQRankSum=-6.863;QD=6.18;ReadPosRankSum=0.379;SOR=0.178	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:67,34:101:99:0|1:124989533_G_A:1206,0,2610:124989533	0	0	6	0
chr10	124989565	124989565	G	-	exonic	CTBP2	.	frameshift deletion	CTBP2:NM_001363508:exon9:c.1495delC:p.Q499Sfs*36,CTBP2:NM_022802:exon9:c.2911delC:p.Q971Sfs*36,CTBP2:NM_001321013:exon10:c.1291delC:p.Q431Sfs*36,CTBP2:NM_001083914:exon11:c.1291delC:p.Q431Sfs*36,CTBP2:NM_001290214:exon11:c.1291delC:p.Q431Sfs*36,CTBP2:NM_001290215:exon11:c.1291delC:p.Q431Sfs*36,CTBP2:NM_001321012:exon11:c.1291delC:p.Q431Sfs*36,CTBP2:NM_001321014:exon11:c.1291delC:p.Q431Sfs*36,CTBP2:NM_001329:exon11:c.1291delC:p.Q431Sfs*36	.	440	850	230	2	0	234	0.120993	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001537	4	26028	rs146097043	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4167	1855.48	93	chr10	124989564	.	TG	T	1855.48	.	AC=5;AF=0.417;AN=12;BaseQRankSum=-2.937;DP=669;ExcessHet=6.1542;FS=22.753;MLEAC=5;MLEAF=0.417;MQ=52.45;MQRankSum=-6.151;QD=3.55;ReadPosRankSum=-1.825;SOR=0.183	GT:AD:DP:GQ:PL	0/1:73,23:96:99:572,0,2438	1	0	5	0
chr10	124989579	124989579	G	C	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon9:c.C1481G:p.A494G,CTBP2:NM_022802:exon9:c.C2897G:p.A966G,CTBP2:NM_001321013:exon10:c.C1277G:p.A426G,CTBP2:NM_001083914:exon11:c.C1277G:p.A426G,CTBP2:NM_001290214:exon11:c.C1277G:p.A426G,CTBP2:NM_001290215:exon11:c.C1277G:p.A426G,CTBP2:NM_001321012:exon11:c.C1277G:p.A426G,CTBP2:NM_001321014:exon11:c.C1277G:p.A426G,CTBP2:NM_001329:exon11:c.C1277G:p.A426G	.	436	984	100	2	0	104	0.0501931	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.523	0.0686986444289	.	.	.	.	.	.	.	.	.	.	6.47e-05	10	154602	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.017	0.68238	D	0.102	0.48594	T	0.939	0.77913	P	0.656	0.73362	P	0.001392	0.39175	N	0.252302	0.999998	0.58761	D	1.975	0.53506	M	-1.82	0.85003	D	-1.94	0.45042	N	0.486	0.62781	0.438	0.89660	D	0.671	0.88602	D	10	0.37102997	0.53476	T	0.068699	0.70524	D	0.523	0.79765	0.146	0.04941	0.760411053773	0.75822	0.4168685752787953	0.41602	1.88731367476	0.92685	0.701414048672	0.67348	T	0.299078	0.67161	T	0.208989	0.74736	D	0.0624214	0.74406	D	0.93170565366745	0.59725	D	0.741926	0.36245	T	0.23596977	0.46441	0.21558693	0.46153	0.23596977	0.46441	0.21558693	0.46152	-4.06	0.25701	T	.	.	0.324	0.54775	B	.;.;.;.;.;.	.;.;.;.;.;.	5.064118	0.84424	28.3	0.99719618450600933	0.81914	0.96716	0.70558	D	AEFDGBCI	0.937767	0.93600	D	0.680611287748224	0.78361	6.856259	0.718927581574258	0.83819	8.122182	1.0	0.98316	0.722319	0.85440	0	0.00446	0.00028	3	0.702456	0.68683	0	0.735409	0.98432	0	.	.	5.12	5.12	0.69459	9.506000	0.96988	9.922000	0.82512	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.939000	0.47918	0.0:0.0:1.0:0.0	18.759	0.91807	940	0.13648	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1667	567.06	102	chr10	124989579	.	G	C	567.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=1.07;DP=647;ExcessHet=0.4139;FS=32.288;MLEAC=2;MLEAF=0.167;MQ=53.74;MQRankSum=-7.507;QD=2.36;ReadPosRankSum=-3.028;SOR=0.747	GT:AD:DP:GQ:PL	0/1:88,20:108:99:308,0,2351	4	0	2	0
chr10	124994489	124994489	T	G	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon5:c.A964C:p.N322H,CTBP2:NM_022802:exon5:c.A2380C:p.N794H,CTBP2:NM_001321013:exon6:c.A760C:p.N254H,CTBP2:NM_001083914:exon7:c.A760C:p.N254H,CTBP2:NM_001290214:exon7:c.A760C:p.N254H,CTBP2:NM_001290215:exon7:c.A760C:p.N254H,CTBP2:NM_001321012:exon7:c.A760C:p.N254H,CTBP2:NM_001321014:exon7:c.A760C:p.N254H,CTBP2:NM_001329:exon7:c.A760C:p.N254H	.	425	876	218	3	0	224	0.11336	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.855	0.287995004976	.	.	.	.	.	.	.	.	.	.	.	.	.	rs913075834	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.044	0.53900	D	0.014	0.69154	D	1.0	0.90584	D	0.995	0.84481	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.03	0.86425	M	-1.64	0.82533	D	-4.7	0.80510	D	0.955	0.96416	0.598	0.91868	D	0.722	0.90485	D	10	0.93609107	0.92939	D	0.287995	0.90464	D	0.855	0.95544	0.749	0.87988	0.908261012674	0.90733	0.9221523146368497	0.92192	2.0305426451	0.94091	0.826209723949	0.85982	D	0.743281	0.92907	D	0.230793	0.76796	D	0.0937411	0.76494	D	0.996190285808554	0.88852	D	0.970303	0.89317	D	0.91641486	0.92901	0.8315015	0.90282	0.91641486	0.92902	0.8315015	0.90283	-11.706	0.83405	D	.	.	0.818	0.83534	P	.;.;.;.;.;.	.;.;.;.;.;.	4.739043	0.76411	26.5	0.99694374199735813	0.80180	0.94484	0.61314	D	AEFDGBCI	0.936668	0.93334	D	0.798915340390827	0.86037	8.759083	0.761626191030682	0.87022	9.081087	0.999999999999979	0.74766	0.722319	0.85440	0	0.550933	0.16991	0	0.67197	0.60751	0	0.735409	0.98432	0	.	.	5.36	5.36	0.76624	7.674000	0.83146	7.884000	0.72673	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:0.0:1.0	15.357	0.74148	942	0.12992	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;.;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4167	1416.52	147	chr10	124994489	.	T	G	1416.52	.	AC=5;AF=0.417;AN=12;BaseQRankSum=2.95;DP=755;ExcessHet=6.1542;FS=33.012;MLEAC=5;MLEAF=0.417;MQ=58.07;MQRankSum=-8.191;QD=2.09;ReadPosRankSum=-3.293;SOR=3.845	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:124,20:144:99:0|1:124994489_T_G:467,0,5147:124994489	1	0	5	0
chr10	124994501	124994501	G	A	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon5:c.C952T:p.H318Y,CTBP2:NM_022802:exon5:c.C2368T:p.H790Y,CTBP2:NM_001321013:exon6:c.C748T:p.H250Y,CTBP2:NM_001083914:exon7:c.C748T:p.H250Y,CTBP2:NM_001290214:exon7:c.C748T:p.H250Y,CTBP2:NM_001290215:exon7:c.C748T:p.H250Y,CTBP2:NM_001321012:exon7:c.C748T:p.H250Y,CTBP2:NM_001321014:exon7:c.C748T:p.H250Y,CTBP2:NM_001329:exon7:c.C748T:p.H250Y	.	426	821	272	3	0	278	0.144792	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.771	0.0948171006631	.	.	.	.	.	.	.	.	.	.	.	.	.	rs978705792	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.103	0.42487	T	0.297	0.31125	T	0.868	0.47740	P	0.617	0.54186	P	0.000000	0.84330	D	0.000000	1	0.81001	D	0.11	0.08516	N	-1.36	0.80125	T	-5.44	0.85541	D	0.915	0.92084	-0.1289	0.79427	T	0.435	0.77536	T	10	0.7908057	0.78643	D	0.094817	0.76319	D	0.771	0.92294	0.486	0.56939	0.919217431084	0.91840	0.9252807218489828	0.92505	1.25117579951	0.81802	0.887714266777	0.94973	D	0.545829	0.84532	D	0.352326	0.86659	D	0.268315	0.86483	D	0.94890558719635	0.62996	D	0.972303	0.89961	D	0.826035	0.85629	0.7361207	0.84404	0.826035	0.85631	0.7361207	0.84405	-9.649	0.71784	D	.	.	0.781	0.76420	P	.;.;.;.;.;.	.;.;.;.;.;.	4.665783	0.74522	26.2	0.99760421591352766	0.85011	0.95027	0.63172	D	AEFDGBCI	0.931287	0.91988	D	0.465501566800638	0.65087	4.778689	0.565123419115292	0.72454	5.812716	1.0	0.98316	0.722319	0.85440	0	0.550933	0.16991	0	0.67197	0.60751	0	0.735409	0.98432	0	.	.	5.21	5.21	0.72005	7.771000	0.84203	11.823000	0.97298	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	18.767	0.91839	942	0.12992	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;.;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4167	2194.52	159	chr10	124994501	.	G	A	2194.52	.	AC=5;AF=0.417;AN=12;BaseQRankSum=-0.641;DP=861;ExcessHet=6.1542;FS=33.341;MLEAC=5;MLEAF=0.417;MQ=57.59;MQRankSum=-7.95;QD=3.04;ReadPosRankSum=-2.138;SOR=3.668	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:128,30:158:99:0|1:124994489_T_G:864,0,5284:124994489	1	0	5	0
chr10	124994505	124994505	A	T	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon5:c.T948A:p.H316Q,CTBP2:NM_022802:exon5:c.T2364A:p.H788Q,CTBP2:NM_001321013:exon6:c.T744A:p.H248Q,CTBP2:NM_001083914:exon7:c.T744A:p.H248Q,CTBP2:NM_001290214:exon7:c.T744A:p.H248Q,CTBP2:NM_001290215:exon7:c.T744A:p.H248Q,CTBP2:NM_001321012:exon7:c.T744A:p.H248Q,CTBP2:NM_001321014:exon7:c.T744A:p.H248Q,CTBP2:NM_001329:exon7:c.T744A:p.H248Q	.	423	816	278	5	0	288	0.15	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.476	0.0731369313184	.	.	.	.	.	.	.	.	.	.	.	.	.	rs937366751	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	0.46513	D	0.259	0.44702	T	0.682	0.41464	P	0.219	0.43945	B	0.000000	0.84330	D	0.000000	0.999904	0.50806	D	-0.715	0.01801	N	-1.26	0.79176	T	-6.79	0.93135	D	0.687	0.70000	-0.8006	0.55109	T	0.184	0.53255	T	10	0.5356107	0.63429	D	0.073137	0.71713	D	0.476	0.76816	0.447	0.50629	0.947376611969	0.94682	0.8013614072212495	0.80090	0.902566627065	0.70693	0.888023793697	0.95012	D	0.559992	0.85254	D	0.155552	0.69787	D	-0.0143363	0.69401	D	0.887895047664642	0.53844	D	0.743426	0.36288	T	0.90044665	0.91423	0.7164848	0.83265	0.90044665	0.91424	0.7164848	0.83266	-12.552	0.89160	D	.	.	0.886	0.85521	P	.;.;.;.;.;.	.;.;.;.;.;.	3.763339	0.54010	23.4	0.97895156658106663	0.36704	0.72838	0.35639	D	AEFDGBCI	0.464485	0.51296	N	-0.261912955812249	0.30631	1.70973	-0.146100228405978	0.33558	1.920874	0.999999244525417	0.74766	0.722319	0.85440	0	0.550933	0.16991	0	0.67197	0.60751	0	0.735409	0.98432	0	.	.	5.21	1.37	0.21200	1.883000	0.39293	2.678000	0.33996	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.989000	0.64315	0.5559:0.0:0.4441:0.0	8.31	0.31226	942	0.12992	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;.;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.4167	2212.52	159	chr10	124994505	.	A	T	2212.52	.	AC=5;AF=0.417;AN=12;BaseQRankSum=1.83;DP=871;ExcessHet=6.1542;FS=33.335;MLEAC=5;MLEAF=0.417;MQ=57.51;MQRankSum=-7.894;QD=3.09;ReadPosRankSum=-1.23;SOR=3.679	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:126,30:156:99:0|1:124994489_T_G:870,0,5200:124994489	1	0	5	0
chr10	124994530	124994530	G	A	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon5:c.C923T:p.S308F,CTBP2:NM_022802:exon5:c.C2339T:p.S780F,CTBP2:NM_001321013:exon6:c.C719T:p.S240F,CTBP2:NM_001083914:exon7:c.C719T:p.S240F,CTBP2:NM_001290214:exon7:c.C719T:p.S240F,CTBP2:NM_001290215:exon7:c.C719T:p.S240F,CTBP2:NM_001321012:exon7:c.C719T:p.S240F,CTBP2:NM_001321014:exon7:c.C719T:p.S240F,CTBP2:NM_001329:exon7:c.C719T:p.S240F	.	421	688	403	10	0	423	0.235131	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.938	0.47632593724	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs374871777	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.033	0.59928	D	0.001	0.83351	D	1.0	0.90584	D	0.993	0.83170	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.465	0.71551	M	-1.61	0.82254	D	-5.08	0.82896	D	0.976	0.98657	0.694	0.93099	D	0.759	0.91795	D	10	0.9291788	0.92260	D	0.476326	0.94766	D	0.938	0.98636	0.718	0.85319	0.963037453765	0.96263	0.9856555258906051	0.98558	2.08621322631	0.94675	0.860175311565	0.91136	D	0.733508	0.92560	D	0.422049	0.91127	D	0.368468	0.91016	D	0.994980752468109	0.86633	D	0.836416	0.50788	T	0.98504084	0.99469	0.92532665	0.96770	0.98504084	0.99469	0.92532665	0.96771	-14.995	0.96879	D	.	.	0.993	0.95154	P	.;.;.;.;.;.	.;.;.;.;.;.	5.187974	0.87005	29.1	0.99852028210273314	0.93102	0.95134	0.63563	D	AEFDGBCI	0.931287	0.91988	D	0.925236055449727	0.92941	11.72177	0.873600535312142	0.94317	12.66702	1.0	0.98316	0.722319	0.85440	0	0.550933	0.16991	0	0.67197	0.60751	0	0.735409	0.98432	0	.	.	5.21	5.21	0.72005	9.602000	0.97623	11.823000	0.97298	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:1.0:0.0	18.767	0.91839	942	0.12992	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;.;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	3005.55	168	chr10	124994530	.	G	A	3005.55	.	AC=6;AF=0.5;AN=12;BaseQRankSum=-0.746;DP=943;ExcessHet=11.5949;FS=48.068;MLEAC=6;MLEAF=0.5;MQ=56.62;MQRankSum=-6.592;QD=3.63;ReadPosRankSum=2.07;SOR=4.191	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:118,35:153:99:0|1:124994523_G_A:1105,0,4713:124994523	0	0	6	0
chr10	124994542	124994542	C	T	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon5:c.G911A:p.S304N,CTBP2:NM_022802:exon5:c.G2327A:p.S776N,CTBP2:NM_001321013:exon6:c.G707A:p.S236N,CTBP2:NM_001083914:exon7:c.G707A:p.S236N,CTBP2:NM_001290214:exon7:c.G707A:p.S236N,CTBP2:NM_001290215:exon7:c.G707A:p.S236N,CTBP2:NM_001321012:exon7:c.G707A:p.S236N,CTBP2:NM_001321014:exon7:c.G707A:p.S236N,CTBP2:NM_001329:exon7:c.G707A:p.S236N	.	418	797	293	14	0	321	0.167624	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.881	0.520636706354	.	.	.	.	.	.	.	.	.	.	7.68e-05	2	26028	rs78155918	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.91255	D	0.004	0.79402	D	0.994	0.66517	D	0.972	0.72692	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.19	0.88972	M	-1.86	0.84341	D	-2.9	0.61580	D	0.951	0.95956	0.923	0.96008	D	0.835	0.94461	D	10	0.96767014	0.96284	D	0.520637	0.95441	D	0.881	0.96502	0.859	0.95718	0.8508886717	0.84945	0.9945051231415541	0.99447	1.72531923595	0.90642	0.895219087601	0.95893	D	0.849948	0.96576	D	0.195726	0.73494	D	0.04337	0.73148	D	0.993175552752073	0.83871	D	0.98969	0.96662	D	0.9860643	0.99535	0.9414922	0.97865	0.9860643	0.99535	0.9414922	0.97866	-14.163	0.96648	D	.	.	0.990	0.93538	P	.;.;.;.;.;.	.;.;.;.;.;.	4.768549	0.77163	26.6	0.99793032458852304	0.87839	0.92617	0.56134	D	AEFDGBCI	0.921115	0.89410	D	0.951529578297244	0.94047	12.46209	0.869409228877299	0.94098	12.50256	1.0	0.98316	0.722319	0.85440	0	0.550933	0.16991	0	0.67197	0.60751	0	0.735409	0.98432	0	.	.	5.21	5.21	0.72005	7.568000	0.81546	7.667000	0.64568	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.979000	0.57723	0.0:1.0:0.0:0.0	18.767	0.91839	942	0.12992	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;.;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	1629.54	164	chr10	124994542	.	C	T	1629.54	.	AC=6;AF=0.5;AN=12;BaseQRankSum=-1.508;DP=944;ExcessHet=11.5949;FS=56.34;MLEAC=6;MLEAF=0.5;MQ=56.51;MQRankSum=-6.252;QD=2.04;ReadPosRankSum=3.19;SOR=4.285	GT:AD:DP:GQ:PL	0/1:112,35:149:99:512,0,3028	0	0	6	0
chr10	124994563	124994563	A	T	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon5:c.T890A:p.L297Q,CTBP2:NM_022802:exon5:c.T2306A:p.L769Q,CTBP2:NM_001321013:exon6:c.T686A:p.L229Q,CTBP2:NM_001083914:exon7:c.T686A:p.L229Q,CTBP2:NM_001290214:exon7:c.T686A:p.L229Q,CTBP2:NM_001290215:exon7:c.T686A:p.L229Q,CTBP2:NM_001321012:exon7:c.T686A:p.L229Q,CTBP2:NM_001321014:exon7:c.T686A:p.L229Q,CTBP2:NM_001329:exon7:c.T686A:p.L229Q	.	408	769	327	18	0	363	0.190952	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.960	0.547155886187	.	.	.	.	.	.	.	.	.	.	7.68e-05	2	26028	rs150320719	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.017	0.83351	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	0.999999	0.81001	D	2.835	0.82492	M	-1.85	0.84267	D	-5.78	0.88699	D	0.932	0.93841	0.754	0.93845	D	0.782	0.92582	D	10	0.9727028	0.96922	D	0.547156	0.95809	D	0.960	0.99376	0.857	0.95604	0.951774941741	0.95126	0.9701566259621512	0.97004	2.04308220201	0.94282	0.848910570145	0.89450	D	0.853663	0.96692	D	0.45783	0.92829	D	0.419864	0.92740	D	0.999412894248962	0.97310	D	0.830117	0.49576	T	0.9576254	0.97040	0.9405844	0.97806	0.9576254	0.97041	0.9405844	0.97806	-13.719	0.92108	D	.	.	0.992	0.94272	P	.;.;.;.;.;.	.;.;.;.;.;.	5.061375	0.84364	28.3	0.99631799569558666	0.76081	0.94544	0.61510	D	AEFDGBCI	0.948042	0.95924	D	0.879361810884359	0.90712	10.53043	0.831570877214738	0.91895	11.12529	0.999999999999983	0.74766	0.722319	0.85440	0	0.550933	0.16991	0	0.67197	0.60751	0	0.735409	0.98432	0	.	.	5.42	5.42	0.78666	8.947000	0.92735	11.208000	0.89295	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	1.0:0.0:0.0:0.0	15.466	0.75135	942	0.12992	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;.;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3333	1627.61	163	chr10	124994563	.	A	T	1627.61	.	AC=4;AF=0.333;AN=12;BaseQRankSum=-0.781;DP=939;ExcessHet=3.1439;FS=59.81;MLEAC=4;MLEAF=0.333;MQ=56.33;MQRankSum=-6.314;QD=2.9;ReadPosRankSum=3.01;SOR=4.512	GT:AD:DP:GQ:PL	0/1:111,36:147:99:535,0,2928	2	0	4	0
chr10	124994577	124994577	C	A	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon5:c.G876T:p.Q292H,CTBP2:NM_022802:exon5:c.G2292T:p.Q764H,CTBP2:NM_001321013:exon6:c.G672T:p.Q224H,CTBP2:NM_001083914:exon7:c.G672T:p.Q224H,CTBP2:NM_001290214:exon7:c.G672T:p.Q224H,CTBP2:NM_001290215:exon7:c.G672T:p.Q224H,CTBP2:NM_001321012:exon7:c.G672T:p.Q224H,CTBP2:NM_001321014:exon7:c.G672T:p.Q224H,CTBP2:NM_001329:exon7:c.G672T:p.Q224H	.	408	580	516	18	0	552	0.32243	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.696	0.0892909269972	.	.	.	.	.	.	.	.	.	.	0.0001153	3	26028	rs80025996	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	0.63226	D	0.087	0.69154	T	0.964	0.68779	D	0.898	0.69447	P	0.000000	0.84330	D	0.000000	0.999957	0.58761	D	0.49	0.13296	N	-1.71	0.83815	D	-3.39	0.66896	D	0.743	0.76111	0.130	0.84714	D	0.526	0.82375	D	10	0.69303375	0.71973	D	0.089291	0.75298	D	0.696	0.89007	0.404	0.43573	0.949204094444	0.94866	0.8408413105034186	0.84044	1.71814521226	0.90529	0.835075438023	0.87341	D	0.524087	0.83410	D	0.323687	0.84732	D	0.227177	0.84532	D	0.984627544879913	0.75871	D	0.969203	0.88895	D	0.8669297	0.88620	0.72212815	0.83591	0.8669297	0.88622	0.72212815	0.83592	-9.982	0.77738	D	.	.	0.579	0.68002	P	.;.;.;.;.;.	.;.;.;.;.;.	4.008335	0.59116	24.1	0.99735057696966967	0.83047	0.87870	0.47561	D	AEFDGBCI	0.735142	0.68105	D	0.394708730247093	0.61135	4.310599	0.421330055103997	0.62895	4.513037	0.999999999997443	0.74766	0.722319	0.85440	0	0.550933	0.16991	0	0.67197	0.60751	0	0.735409	0.98432	0	.	.	5.42	4.51	0.54589	3.891000	0.55940	4.055000	0.41540	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.9224:0.0:0.0776	13.270	0.59589	942	0.12992	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;.;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	4211.55	168	chr10	124994577	.	C	A	4211.55	.	AC=6;AF=0.5;AN=12;BaseQRankSum=-2.901;DP=938;ExcessHet=11.5949;FS=67.395;MLEAC=6;MLEAF=0.5;MQ=56.29;MQRankSum=-6.279;QD=5.19;ReadPosRankSum=2.52;SOR=4.555	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:103,37:140:99:0|1:124994577_C_A:1244,0,4084:124994577	0	0	6	0
chr10	124994610	124994641	CAAGTAGGGGTCATAAAATATGACGCTGAATC	-	exonic	CTBP2	.	frameshift deletion	CTBP2:NM_001363508:exon5:c.812_843del:p.G271Afs*36,CTBP2:NM_022802:exon5:c.2228_2259del:p.G743Afs*36,CTBP2:NM_001321013:exon6:c.608_639del:p.G203Afs*36,CTBP2:NM_001083914:exon7:c.608_639del:p.G203Afs*36,CTBP2:NM_001290214:exon7:c.608_639del:p.G203Afs*36,CTBP2:NM_001290215:exon7:c.608_639del:p.G203Afs*36,CTBP2:NM_001321012:exon7:c.608_639del:p.G203Afs*36,CTBP2:NM_001321014:exon7:c.608_639del:p.G203Afs*36,CTBP2:NM_001329:exon7:c.608_639del:p.G203Afs*36	.	417	925	176	4	0	184	0.0904621	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	33.79	80	chr10	124994609	.	GCAAGTAGGGGTCATAAAATATGACGCTGAATC	G	33.79	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.981;DP=609;ExcessHet=0;FS=7.371;MLEAC=1;MLEAF=0.083;MQ=56.64;MQRankSum=-7.097;QD=0.28;ReadPosRankSum=-2.17;SOR=1.879	GT:AD:DP:GQ:PL	0/1:111,9:120:44:44,0,4625	5	0	1	0
chr10	124998036	124998036	C	T	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon4:c.G697A:p.V233M,CTBP2:NM_022802:exon4:c.G2113A:p.V705M,CTBP2:NM_001321013:exon5:c.G493A:p.V165M,CTBP2:NM_001083914:exon6:c.G493A:p.V165M,CTBP2:NM_001290214:exon6:c.G493A:p.V165M,CTBP2:NM_001290215:exon6:c.G493A:p.V165M,CTBP2:NM_001321012:exon6:c.G493A:p.V165M,CTBP2:NM_001321014:exon6:c.G493A:p.V165M,CTBP2:NM_001329:exon6:c.G493A:p.V165M	.	409	1100	12	1	0	14	0.0063234	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.608	0.0947644967317	7.7e-05	.	4.331e-05	0	0	0	0	6.263e-05	0	6.248e-05	5.17e-05	8	154602	rs74442958	2.669e-05	2.668e-05	2.724e-05	2.614e-05	8.117e-05	1.999e-05	1.755e-05	3.766e-05	2.662e-05	0	4.475e-05	0	0	0	0	2.608e-05	1.656e-05	8.117e-05	3.941e-05	3.94e-05	3.852e-05	4.034e-05	0.0001	1.715e-05	1.129e-05	2.26e-05	1.124e-05	0	0	0.0001	0	0	0	0	5.878e-05	0	0	0.138	0.48186	T	0.25	0.40426	T	0.363	0.65571	B	0.175	0.55432	B	0.000000	0.84330	D	0.000000	0.999999	0.58761	D	0.715	0.18665	N	-1.75	0.84267	D	-1.83	0.44284	N	0.763	0.80375	0.175	0.85483	D	0.501	0.81144	D	10	0.77381384	0.77295	D	0.094764	0.76310	D	0.608	0.84613	.	.	0.779464580674	0.77742	0.7649687908423062	0.76445	1.99083872869	0.93746	0.807924032211	0.83173	D	0.329296	0.69961	T	0.0588544	0.59470	T	0.0226106	0.71799	D	0.312028567183885	0.25497	T	0.927907	0.73422	D	0.28631294	0.51647	0.24527591	0.50012	0.28631294	0.51647	0.24527591	0.50011	-7.832	0.59920	D	.	.	0.718	0.73683	P	.;.;.;.;.;.	.;.;.;.;.;.	4.904502	0.80643	27.4	0.99718627852449637	0.81843	0.91770	0.54226	D	AEFDGBCI	0.749029	0.69059	D	0.225605343922995	0.52442	3.418394	0.328547364310565	0.57223	3.88734	0.999999999999998	0.74766	0.78354	0.99714	0	0.550933	0.16991	0	0.827368	0.99476	0	0.711	0.71501	0	.	.	4.73	4.73	0.59485	7.565000	0.81337	4.836000	0.45242	-0.176000	0.10722	1.000000	0.71638	1.000000	0.68203	0.051000	0.15275	0.0:1.0:0.0:0.0	18.072	0.89338	928	0.17405	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;.;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1	87.7	111	chr10	124998036	.	C	T	87.7	.	AC=1;AF=0.1;AN=10;BaseQRankSum=-1.402;DP=696;ExcessHet=0;FS=16.447;MLEAC=1;MLEAF=0.1;MQ=58.03;MQRankSum=-5.29;QD=0.67;ReadPosRankSum=-3.448;SOR=2.268	GT:AD:DP:GQ:PL	0/1:116,14:130:97:97,0,4591	4	0	1	1
chr10	124998077	124998077	C	G	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon4:c.G656C:p.W219S,CTBP2:NM_022802:exon4:c.G2072C:p.W691S,CTBP2:NM_001321013:exon5:c.G452C:p.W151S,CTBP2:NM_001083914:exon6:c.G452C:p.W151S,CTBP2:NM_001290214:exon6:c.G452C:p.W151S,CTBP2:NM_001290215:exon6:c.G452C:p.W151S,CTBP2:NM_001321012:exon6:c.G452C:p.W151S,CTBP2:NM_001321014:exon6:c.G452C:p.W151S,CTBP2:NM_001329:exon6:c.G452C:p.W151S	.	411	908	195	8	0	211	0.104095	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.729	0.132665301415	.	.	.	.	.	.	.	.	.	.	.	.	.	rs921417861	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.039	0.49613	D	0.251	0.48855	T	0.932	0.67487	P	0.903	0.72692	P	0.000000	0.84330	D	0.000000	1	0.81001	D	0.73	0.18813	N	-1.24	0.78967	T	-13.16	0.99944	D	0.816	0.82660	0.015	0.82548	D	0.436	0.77612	T	10	0.8384273	0.82996	D	0.132665	0.81500	D	0.729	0.90501	0.42	0.46200	0.916186859433	0.91534	0.939893042578689	0.93970	2.15981024662	0.95367	0.902819037437	0.96746	D	0.566519	0.85577	D	0.361391	0.87361	D	0.281337	0.87198	D	0.999315857887268	0.96929	D	0.787421	0.42665	T	0.9529722	0.96568	0.9167839	0.96171	0.9529722	0.96569	0.9167839	0.96171	-13.048	0.91030	D	.	.	0.987	0.92737	P	.;.;.;.;.;.	.;.;.;.;.;.	5.895887	0.93981	33	0.99155191442297097	0.53931	0.92847	0.56691	D	AEFDGBCI	0.944592	0.95186	D	0.526305507094081	0.68652	5.246556	0.569067646848623	0.72734	5.856765	0.999999999999998	0.74766	0.67177	0.52595	0	0.550933	0.16991	0	0.697927	0.64325	0	0.711	0.71501	0	.	.	4.73	4.73	0.59485	7.565000	0.81337	5.908000	0.50981	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.965000	0.52897	0.0:1.0:0.0:0.0	18.072	0.89338	928	0.17405	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;.;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	1435.82	130	chr10	124998077	.	C	G	1435.82	.	AC=3;AF=0.5;AN=6;BaseQRankSum=-1.906;DP=835;ExcessHet=1.383;FS=18.751;MLEAC=4;MLEAF=0.667;MQ=58.23;MQRankSum=-8.16;QD=3.43;ReadPosRankSum=1.92;SOR=2.215	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:128,27:155:99:0|1:124998077_C_G:748,0,5261:124998077	0	0	3	3
chr10	124998080	124998080	G	C	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon4:c.C653G:p.T218R,CTBP2:NM_022802:exon4:c.C2069G:p.T690R,CTBP2:NM_001321013:exon5:c.C449G:p.T150R,CTBP2:NM_001083914:exon6:c.C449G:p.T150R,CTBP2:NM_001290214:exon6:c.C449G:p.T150R,CTBP2:NM_001290215:exon6:c.C449G:p.T150R,CTBP2:NM_001321012:exon6:c.C449G:p.T150R,CTBP2:NM_001321014:exon6:c.C449G:p.T150R,CTBP2:NM_001329:exon6:c.C449G:p.T150R	.	411	907	195	9	0	213	0.105081	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.679	0.0475041477189	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.297	0.53900	T	0.336	0.34124	T	0.999	0.90584	D	0.989	0.81110	D	0.000000	0.84330	D	0.000000	1	0.81001	D	0.54	0.13725	N	-1.31	0.79666	T	-3.5	0.68298	D	0.928	0.95139	0.036	0.82969	D	0.482	0.80205	T	10	0.8320574	0.82367	D	0.047504	0.62952	D	0.679	0.88205	0.598	0.72862	0.765312620283	0.76316	0.9505245979181556	0.95036	2.12633044952	0.95074	0.794296979904	0.81096	T	0.503085	0.82273	D	0.222721	0.76033	D	0.0821472	0.75720	D	0.938564615564625	0.60928	D	0.79772	0.44184	T	0.9565074	0.96926	0.8445915	0.91143	0.9565074	0.96926	0.8445915	0.91143	-16.429	0.98336	D	.	.	0.949	0.86814	P	.;.;.;.;.;.	.;.;.;.;.;.	5.668071	0.92919	33	0.99401680195169373	0.62841	0.95078	0.63357	D	AEFDGBCI	0.948544	0.96027	D	0.585474125636482	0.72268	5.778968	0.626633119523619	0.76879	6.573287	0.999999999999998	0.74766	0.67177	0.52595	0	0.550933	0.16991	0	0.697927	0.64325	0	0.711	0.71501	0	.	.	4.73	4.73	0.59485	9.597000	0.97445	8.536000	0.77474	0.672000	0.70159	1.000000	0.71638	1.000000	0.68203	0.972000	0.54974	0.0:0.0:1.0:0.0	18.072	0.89338	928	0.17405	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;.;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	1432.82	131	chr10	124998080	.	G	C	1432.82	.	AC=3;AF=0.5;AN=6;BaseQRankSum=-0.443;DP=833;ExcessHet=1.383;FS=18.548;MLEAC=4;MLEAF=0.667;MQ=58.24;MQRankSum=-8.19;QD=3.42;ReadPosRankSum=2.2;SOR=2.22	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:129,27:156:99:0|1:124998077_C_G:745,0,5333:124998077	0	0	3	3
chr10	124998087	124998087	T	C	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon4:c.A646G:p.R216G,CTBP2:NM_022802:exon4:c.A2062G:p.R688G,CTBP2:NM_001321013:exon5:c.A442G:p.R148G,CTBP2:NM_001083914:exon6:c.A442G:p.R148G,CTBP2:NM_001290214:exon6:c.A442G:p.R148G,CTBP2:NM_001290215:exon6:c.A442G:p.R148G,CTBP2:NM_001321012:exon6:c.A442G:p.R148G,CTBP2:NM_001321014:exon6:c.A442G:p.R148G,CTBP2:NM_001329:exon6:c.A442G:p.R148G	.	414	922	177	9	0	195	0.0956351	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.592	0.187163960256	.	.	.	.	.	.	.	.	.	.	.	.	.	rs914098337	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.132	0.46513	T	0.114	0.50226	T	0.889	0.56408	P	0.532	0.59825	P	0.000000	0.84330	D	0.000000	0.999931	0.51612	D	1.53	0.38800	L	-1.44	0.80815	T	-6.41	0.91868	D	0.945	0.95491	-0.1393	0.79182	T	0.443	0.78033	T	10	0.8510742	0.84286	D	0.187164	0.85921	D	0.592	0.83747	0.59	0.71874	0.975786130339	0.97552	0.9668684472081748	0.96674	1.31579442616	0.83326	0.803737461567	0.82533	D	0.582432	0.86347	D	0.299844	0.82957	D	0.192928	0.82736	D	0.96776270866394	0.68017	D	0.831417	0.49863	T	0.8377413	0.86447	0.72207403	0.83588	0.8377413	0.86448	0.72207403	0.83589	-13.47	0.92423	D	.	.	0.990	0.93663	P	.;.;.;.;.;.	.;.;.;.;.;.	3.151647	0.42666	21.6	0.99467938748563089	0.66154	0.20835	0.21186	N	AEFDGBCI	0.404313	0.47765	N	-0.449297695031707	0.23763	1.278434	-0.489554569803757	0.22440	1.218867	0.999987001428746	0.51787	0.67177	0.52595	0	0.550933	0.16991	0	0.697927	0.64325	0	0.711	0.71501	0	.	.	4.73	0.468	0.15943	-0.037000	0.12116	0.229000	0.16167	-0.876000	0.02500	0.022000	0.19841	0.016000	0.20520	0.945000	0.48827	0.0:0.0:0.2754:0.7246	17.140	0.86628	928	0.17405	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;.;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	1441.82	129	chr10	124998087	.	T	C	1441.82	.	AC=3;AF=0.5;AN=6;BaseQRankSum=-0.763;DP=839;ExcessHet=1.383;FS=18.297;MLEAC=4;MLEAF=0.667;MQ=58.22;MQRankSum=-8.13;QD=3.47;ReadPosRankSum=3.18;SOR=2.226	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:127,27:154:99:0|1:124998077_C_G:751,0,5251:124998077	0	0	3	3
chr10	124998090	124998090	G	A	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon4:c.C643T:p.R215W,CTBP2:NM_022802:exon4:c.C2059T:p.R687W,CTBP2:NM_001321013:exon5:c.C439T:p.R147W,CTBP2:NM_001083914:exon6:c.C439T:p.R147W,CTBP2:NM_001290214:exon6:c.C439T:p.R147W,CTBP2:NM_001290215:exon6:c.C439T:p.R147W,CTBP2:NM_001321012:exon6:c.C439T:p.R147W,CTBP2:NM_001321014:exon6:c.C439T:p.R147W,CTBP2:NM_001329:exon6:c.C439T:p.R147W	.	413	929	171	9	0	189	0.0923302	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.874	0.341150234986	.	.	.	.	.	.	.	.	.	.	.	.	.	rs945665113	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.026	0.59928	D	0.005	0.74150	D	1.0	0.90584	D	0.994	0.88582	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.78	0.95251	H	-2.1	0.86146	D	-7.06	0.95511	D	0.966	0.98840	0.927	0.96063	D	0.842	0.94722	D	10	0.9513125	0.94468	D	0.34115	0.92018	D	0.874	0.96243	0.801	0.92017	0.936821863726	0.93617	0.9793425394167631	0.97925	2.04020034352	0.94242	0.869401991367	0.92483	D	0.888608	0.97719	D	0.413835	0.90693	D	0.356669	0.90576	D	0.995111286640167	0.86855	D	0.922308	0.71764	D	0.9076591	0.92078	0.81096756	0.88961	0.9076591	0.92079	0.81096756	0.88962	-12.412	0.89971	D	.	.	0.994	0.94938	P	.;.;.;.;.;.	.;.;.;.;.;.	5.386720	0.90260	31	0.99921174864262352	0.98787	0.83216	0.42352	D	AEFDGBCI	0.811773	0.73467	D	0.762974766057605	0.83747	8.099164	0.668520105960494	0.79996	7.201961	0.999999999894642	0.74766	0.67177	0.52595	0	0.550933	0.16991	0	0.697927	0.64325	0	0.711	0.71501	0	.	.	4.73	4.73	0.59485	2.889000	0.48300	4.484000	0.43545	-0.120000	0.14102	1.000000	0.71638	1.000000	0.68203	0.964000	0.52637	0.0:0.0:1.0:0.0	18.072	0.89338	928	0.17405	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;.;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	1429.82	129	chr10	124998090	.	G	A	1429.82	.	AC=3;AF=0.5;AN=6;BaseQRankSum=-0.079;DP=845;ExcessHet=1.383;FS=18.634;MLEAC=4;MLEAF=0.667;MQ=58.24;MQRankSum=-8.13;QD=3.4;ReadPosRankSum=3.54;SOR=2.219	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:127,27:154:99:0|1:124998077_C_G:751,0,5248:124998077	0	0	3	3
chr10	124998111	124998111	A	C	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon4:c.T622G:p.C208G,CTBP2:NM_022802:exon4:c.T2038G:p.C680G,CTBP2:NM_001321013:exon5:c.T418G:p.C140G,CTBP2:NM_001083914:exon6:c.T418G:p.C140G,CTBP2:NM_001290214:exon6:c.T418G:p.C140G,CTBP2:NM_001290215:exon6:c.T418G:p.C140G,CTBP2:NM_001321012:exon6:c.T418G:p.C140G,CTBP2:NM_001321014:exon6:c.T418G:p.C140G,CTBP2:NM_001329:exon6:c.T418G:p.C140G	.	410	944	157	11	0	179	0.0865989	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.706	0.118222220686	.	.	.	.	.	.	.	.	.	.	.	.	.	rs796159102	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.126	0.28271	T	0.677	0.30045	T	0.792	0.44688	P	0.742	0.55764	P	0.000000	0.84330	D	0.000000	1	0.81001	D	-0.895	0.01383	N	-1.16	0.78082	T	-10.62	0.99118	D	0.915	0.92084	-0.3132	0.74615	T	0.196	0.55013	T	10	0.8713615	0.86403	D	0.118222	0.79821	D	0.706	0.89468	0.702	0.83869	0.912513623049	0.91163	0.9715165431574718	0.97140	1.07786358497	0.77034	0.792436718941	0.80814	T	0.566859	0.85593	D	0.34296	0.86036	D	0.254862	0.85852	D	0.979450762271881	0.72840	D	0.749425	0.37065	T	0.9582798	0.97106	0.86085767	0.92237	0.9582798	0.97106	0.86085767	0.92238	-11.17	0.90895	D	.	.	0.677	0.72022	P	.;.;.;.;.;.	.;.;.;.;.;.	4.908805	0.80750	27.4	0.97552676337226596	0.34577	0.93781	0.59173	D	AEFDGBCI	0.967747	0.99022	D	-0.0331808542601439	0.40357	2.395268	0.177505344340639	0.48618	3.075226	0.999999999998707	0.74766	0.67177	0.52595	0	0.550933	0.16991	0	0.697927	0.64325	0	0.711	0.71501	0	.	.	4.73	4.73	0.59485	8.942000	0.92506	11.101000	0.86122	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.839000	0.39591	1.0:0.0:0.0:0.0	14.522	0.67442	928	0.17405	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;.;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	1435.82	130	chr10	124998111	.	A	C	1435.82	.	AC=3;AF=0.5;AN=6;BaseQRankSum=-1.488;DP=845;ExcessHet=1.383;FS=13.991;MLEAC=4;MLEAF=0.667;MQ=58.27;MQRankSum=-8.308;QD=3.43;ReadPosRankSum=3.85;SOR=1.992	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:133,27:160:99:0|1:124998111_A_C:733,0,5451:124998111	0	0	3	3
chr10	124998113	124998113	A	G	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon4:c.T620C:p.I207T,CTBP2:NM_022802:exon4:c.T2036C:p.I679T,CTBP2:NM_001321013:exon5:c.T416C:p.I139T,CTBP2:NM_001083914:exon6:c.T416C:p.I139T,CTBP2:NM_001290214:exon6:c.T416C:p.I139T,CTBP2:NM_001290215:exon6:c.T416C:p.I139T,CTBP2:NM_001321012:exon6:c.T416C:p.I139T,CTBP2:NM_001321014:exon6:c.T416C:p.I139T,CTBP2:NM_001329:exon6:c.T416C:p.I139T	.	407	952	152	11	0	174	0.0837344	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.345	0.0441406922816	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs376695472	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.029	0.49117	D	0.018	0.63109	D	0.009	0.16609	B	0.245	0.43514	B	0.005992	0.32354	N	0.362203	0.988384	0.40754	D	1.57	0.39626	L	0.83	0.47815	T	-2.71	0.62630	D	0.584	0.63544	-0.4637	0.69944	T	0.283	0.65458	T	10	0.6084408	0.67308	D	0.044141	0.61343	D	0.345	0.66676	0.751	0.88155	0.737279644149	0.73493	0.9229225010523135	0.92269	2.07736266856	0.94533	0.59366941452	0.52011	T	0.642362	0.89048	D	0.0826065	0.62345	D	-0.119118	0.61876	T	0.971555709838867	0.69361	D	0.751225	0.37284	T	0.56677717	0.70883	0.3280792	0.58700	0.56677717	0.70884	0.3280792	0.58699	-8.556	0.67961	D	.	.	0.481	0.69086	A	.;.;.;.;.;.	.;.;.;.;.;.	3.559859	0.50089	22.9	0.99260520779104144	0.57188	0.90885	0.52445	D	AEFDGBCI	0.920892	0.89354	D	0.260421526544683	0.54157	3.581951	0.337703125837148	0.57769	3.944058	0.999999999998707	0.74766	0.67177	0.52595	0	0.550933	0.16991	0	0.697927	0.64325	0	0.711	0.71501	0	.	.	4.73	4.73	0.59485	7.143000	0.76935	7.993000	0.76119	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.563000	0.30483	1.0:0.0:0.0:0.0	14.522	0.67442	928	0.17405	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;.;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	1435.82	130	chr10	124998113	.	A	G	1435.82	.	AC=3;AF=0.5;AN=6;BaseQRankSum=0.104;DP=843;ExcessHet=1.383;FS=13.991;MLEAC=4;MLEAF=0.667;MQ=58.23;MQRankSum=-8.308;QD=3.43;ReadPosRankSum=3.51;SOR=1.992	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:133,27:160:99:0|1:124998111_A_C:733,0,5451:124998111	0	0	3	3
chr10	128104971	128104971	A	G	exonic	MKI67	.	nonsynonymous SNV	MKI67:NM_001145966:exon12:c.T5789C:p.L1930S,MKI67:NM_002417:exon13:c.T6869C:p.L2290S	.	435	1071	15	1	0	17	0.00787402	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.228	.	0.0005	0.00159744	0.0017	0.0005	0.0088	0	0	0.0004	0.0011	0.0047	0.0015977	247	154602	rs142585399	0.0008	0.0008	0.0007	0.0009	0.0083	0.0007	0.0007	0.0076	0.0074	8.961e-05	0.0083	0	0	0	0.0017	0.0002	0.0010	0.0049	0.0008	0.0008	0.0008	0.0009	0.0052	0.0007	0.0007	0.0043	0.0040	0.0004	0	0.0052	0	0	0	0	0.0003	0.0005	0.0029	0.051	0.45039	T	0.052	0.47581	T	1.0	0.90584	D	0.999	0.92359	D	0.042810	0.01910	N	3.759080	1	0.08975	N	2.325	0.66631	M	3.23	0.06931	T	-2.04	0.51157	N	0.354	0.39558	-0.8799	0.49770	T	0.036	0.15683	T	10	0.0048911273	0.00104	T	.	.	.	0.228	0.52768	.	.	0.235664433957	0.23186	0.12604868837369124	0.12530	0.18284391176	0.20557	0.213060647249	0.00948	T	0.019472	0.15507	T	-0.502251	0.00555	T	-0.48483	0.23935	T	0.0580150899496101	0.06852	T	0.306769	0.05902	T	0.04376589	0.06878	0.0493814	0.07536	0.04376589	0.06878	0.0493814	0.07535	-7.497	0.57589	T	.	.	0.186	0.40197	B	.;.	.;.	0.625634	0.09942	6.698	0.98408434888710794	0.41148	0.04019	0.09450	N	AEFBCI	0.032231	0.03598	N	-0.660365436877656	0.17158	0.8805847	-0.928975025558241	0.11412	0.5812225	0.999765059627799	0.42728	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.711	0.71501	0	.	.	3.6	-2.11	0.06787	-1.854000	0.01757	-15.955000	0.00333	-0.944000	0.02069	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.3607:0.1582:0.3251:0.1561	1.041	0.01461	970	0.06235	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002518	0.000000	0.000000	0.000000	0.000000	0.008621	0.006098	0.003788	0.08333	2513.83	176	chr10	128104971	.	A	G	2513.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.882;DP=942;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.65;ReadPosRankSum=0.376;SOR=0.684	GT:AD:DP:GQ:PL	0/1:129,107:236:99:2524,0,3341	5	0	1	0
chr10	128106841	128106841	T	C	exonic	MKI67	.	nonsynonymous SNV	MKI67:NM_001145966:exon12:c.A3919G:p.T1307A,MKI67:NM_002417:exon13:c.A4999G:p.T1667A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.046	0.0034929646171	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	0.553	0.09329	T	0.806	0.45231	P	0.431	0.47059	B	0.010757	0.01285	N	4.636190	1	0.08975	N	-0.69	0.01958	N	4.52	0.01997	T	-0.35	0.13805	N	0.084	0.16447	-0.9628	0.38645	T	0.004	0.01226	T	10	0.045612723	0.03653	T	0.003493	0.07908	T	0.046	0.12618	0.301	0.26843	0.0954503805726	0.09146	0.05080985663444235	0.05022	0.0481426784639	0.05259	0.203610956669	0.00569	T	0.004516	0.03917	T	-0.422716	0.01644	T	-0.844979	0.01027	T	0.0489225909113884	0.05310	T	0.245375	0.03772	T	0.01290455	0.00044	0.018156977	0.00048	0.01290455	0.00044	0.018156977	0.00048	-0.789	0.00794	T	.	.	0.085	0.10304	B	.;.	.;.	-0.550999	0.01710	0.125	0.12780308798300505	0.00232	0.00855	0.03408	N	AEFBCI	0.015078	0.00270	N	-1.63556059930611	0.01097	0.0476318	-1.7161709605766	0.01068	0.04793177	0.99863198146876	0.37351	0.706548	0.73137	0	0.697927	0.68747	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	3.56	-4.27	0.03486	-0.442000	0.06943	-1.897000	0.04533	-0.946000	0.02057	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.2805:0.2642:0.4553	5.378	0.15479	969	0.06854	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	2773.83	149	chr10	128106841	.	T	C	2773.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.3;DP=753;ExcessHet=0;FS=1.699;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.53;ReadPosRankSum=-0.335;SOR=0.82	GT:AD:DP:GQ:PL	0/1:98,107:205:99:2784,0,2469	5	0	1	0
chr10	129837960	129837960	G	A	exonic	EBF3	.	nonsynonymous SNV	EBF3:NM_001375392:exon15:c.C1544T:p.A515V,EBF3:NM_001005463:exon16:c.C1625T:p.A542V,EBF3:NM_001375379:exon16:c.C1760T:p.A587V,EBF3:NM_001375391:exon16:c.C1652T:p.A551V	Hypotonia, ataxia, and delayed development syndrome, Autosomal dominant	422	1098	2	0	0	2	0.000909918	0.9951	0.874	.	3225818	Hypotonia,_ataxia,_and_delayed_development_syndrome	MONDO:MONDO:0015021,MedGen:C4310618,OMIM:617330,Orphanet:658843	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.256	.	7.7e-05	.	2.489e-05	0	0	0	0	1.51e-05	0	0.0001	1.94e-05	3	154602	rs148915750	1.026e-05	1.026e-05	6.807e-06	1.375e-05	0.0002	6.16e-06	4.89e-06	4.579e-05	3.272e-05	0	0	0	2.519e-05	0	0.0002	0	8.28e-05	9.275e-05	1.971e-05	1.97e-05	2.569e-05	1.345e-05	0.0004	5.24e-06	2.45e-06	7.279e-05	3.025e-05	0	0	0	0	0	0	0	0	0.0005	0.0004	0.024	0.47745	D	0.207	0.27591	T	0.002	0.09854	B	0.011	0.15521	B	0.001837	0.37892	N	0.288769	1	0.81001	D	1.395	0.35261	L	0.96	0.42888	T	-1.76	0.41618	N	0.628	0.64223	-1.0636	0.10878	T	0.107	0.38979	T	10	0.29544163	0.47113	T	0.014909	0.35329	T	0.256	0.56694	.	.	0.539293284284	0.53580	0.5777298879343512	0.57701	0.762839780935	0.64358	0.854626119137	0.90311	D	0.275279	0.64782	T	-0.068965	0.41492	T	-0.155312	0.58771	T	0.654025256633759	0.38636	D	0.948305	0.80559	D	0.12000943	0.28247	0.19510686	0.43170	0.12000943	0.28247	0.19510686	0.43169	-5.44	0.41303	T	.	.	0.321	0.65977	B	.;.	.;.	2.239482	0.28593	17.85	0.99444426228745808	0.64921	0.99682	0.98627	D	AEFDBI	0.927997	0.91152	D	0.239979613345284	0.53146	3.484778	0.457369582597003	0.65193	4.792799	0.99999999999946	0.74766	0.553676	0.25195	0	0.573888	0.26702	0	0.578056	0.29568	0	0.620846	0.47308	0	.	.	6.06	6.06	0.98340	9.920000	0.98759	11.735000	0.95074	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.985000	0.61073	0.0:0.0:1.0:0.0	20.624	0.99515	970	0.06235	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	712.83	33	chr10	129837960	.	G	A	712.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.462;DP=245;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=9.63;ReadPosRankSum=0.6;SOR=0.682	GT:AD:DP:GQ:PL	0/1:44,30:74:99:723,0,1069	5	0	1	0
chr10	132850429	132850429	A	G	exonic	CFAP46	.	nonsynonymous SNV	CFAP46:NM_001200049:exon41:c.T5767C:p.W1923R	.	422	990	104	6	0	116	0.0553435	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.399	.	0.0049	0.00698882	0.0251	0.0032	0.0181	0	0.0076	0.0216	0.0670	0.0544	0.0075549	1168	154602	rs151247898	0.0098	0.0098	0.0090	0.0106	0.0394	0.0097	0.0096	0.0352	0.0335	0.0016	0.0064	0.0063	0.0001	0.0023	0.0394	0.0092	0.0105	0.0306	0.0077	0.0077	0.0078	0.0076	0.0319	0.0073	0.0072	0.0278	0.0263	0.0018	0.0242	0.0105	0.0066	0.0002	0.0020	0.0136	0.0101	0.0109	0.0319	0.0	0.91255	D	0.0	0.92824	D	.	.	.	.	.	.	0.000100	0.51296	D	0.000000	0.972875	0.25577	N	.	.	.	0.18	0.60361	T	-6.82	0.92980	D	0.862	0.85872	-0.5380	0.67239	T	0.235	0.60234	T	10	0.008827597	0.00200	T	.	.	.	0.399	0.71321	.	.	0.468420198123	0.46471	0.5736029430132835	0.57289	0.719680404555	0.62146	0.545271277428	0.45189	T	0.201223	0.55904	T	-0.258478	0.13079	T	-0.122432	0.61602	T	0.0439943876900533	0.04419	T	0.339966	0.07337	T	0.86401325	0.88393	0.6436816	0.79174	0.86401325	0.88395	0.6436816	0.79174	-9.648	0.71778	D	.	.	0.911	0.83497	P	.	.	3.258967	0.44559	22.0	0.97795370841995799	0.36027	0.21783	0.21522	N	AEFDBI	0.078318	0.15800	N	0.24639609896864	0.53461	3.514831	0.110938199862891	0.45107	2.779827	0.00201962742530028	0.09087	0.487112	0.14033	0	0.573888	0.26702	0	0.578056	0.29568	0	0.562822	0.20929	0	.	.	4.14	4.14	0.47821	2.663000	0.46440	3.858000	0.40123	0.756000	0.94297	0.983000	0.35670	0.996000	0.32793	0.049000	0.15107	1.0:0.0:0.0:0.0	9.858	0.40267	994	0.00715	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.032760	0.016484	0.031335	0.032847	0.000000	0.034483	0.039735	0.030534	0.08333	667.83	35	chr10	132850429	.	A	G	667.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.293;DP=244;ExcessHet=0;FS=0.962;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.43;ReadPosRankSum=0.867;SOR=0.525	GT:AD:DP:GQ:PL	0/1:36,28:64:99:678,0,902	5	0	1	0
chr10	132922556	132922556	G	T	exonic	CFAP46	.	nonsynonymous SNV	CFAP46:NM_001200049:exon12:c.C1409A:p.T470N	.	416	1065	39	2	0	43	0.0197883	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.029	.	.	0.00978435	0.0177	0.0037	0.0146	0	0	0.0107	0.0195	0.0251	0.0033311	515	154602	rs41301115	0.0105	0.0100	0.0099	0.0111	0.0279	0.0103	0.0103	0.0269	0.0266	0.0013	0.0072	0.0096	5.598e-05	0.0070	0.0101	0.0101	0.0106	0.0279	0.0079	0.0079	0.0072	0.0087	0.0296	0.0076	0.0074	0.0256	0.0241	0.0015	0	0.0092	0.0104	0	0.0090	0.0068	0.0105	0.0066	0.0296	1.0	0.00964	T	1.0	0.01155	T	.	.	.	.	.	.	0.752325	0.09690	N	0.860345	1	0.08975	N	.	.	.	3.04	0.08810	T	1.45	0.00785	N	0.025	0.00485	-1.0095	0.27074	T	0.027	0.11441	T	7	0.0035613477	0.00064	T	.	.	.	0.029	0.06676	.	.	.	.	0.09840789490100733	0.09771	0.124680466888	0.14042	0.364000618458	0.19967	T	0.003978	0.03393	T	-0.770917	0.00013	T	-0.859196	0.00851	T	0.00565307856650111	0.00062	T	0.393561	0.09813	T	0.03946856	0.05456	0.04422583	0.05683	0.03946856	0.05456	0.04422583	0.05683	-4.835	0.34997	T	.	.	0.065	0.02038	B	.	.	-0.983138	0.00795	0.026	0.20066372410375613	0.00705	0.03741	0.09041	N	AEFDBI	0.044977	0.07303	N	-0.843404712010184	0.12212	0.593932	-0.952104417135243	0.10874	0.5505145	0.0965582444146482	0.16256	0.646311	0.45356	0	0.573888	0.26702	0	0.645312	0.48771	0	0.604944	0.38103	0	.	.	3.28	-0.649	0.10885	-0.188000	0.09638	-1.355000	0.05637	-0.854000	0.02687	0.027000	0.20232	0.000000	0.08366	0.001000	0.02609	0.0:0.1079:0.5276:0.3645	6.353	0.20592	994	0.00715	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	636.83	54	chr10	132922556	.	G	T	636.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.942;DP=257;ExcessHet=0;FS=4.388;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.81;ReadPosRankSum=-0.78;SOR=0.742	GT:AD:DP:GQ:PL	0/1:20,23:43:99:647,0,469	5	0	1	0
chr11	308282	308282	G	A	exonic	IFITM2	.	nonsynonymous SNV	IFITM2:NM_006435:exon1:c.G90A:p.M30I	.	403	1117	2	0	0	2	0.000894454	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.093	0.027545754632	8.1e-05	.	2.485e-05	0	0	0	0	1.499e-05	0	0.0001	1.94e-05	3	154602	rs373569657	1.505e-05	1.505e-05	1.089e-05	1.925e-05	0.0005	9.85e-06	8.41e-06	0.0001	7.55e-05	0	0	0	0	1.873e-05	0.0005	3.597e-06	6.624e-05	0.0001	1.971e-05	2.627e-05	2.569e-05	1.345e-05	4.409e-05	5.24e-06	2.45e-06	1.17e-05	6.25e-06	0	0	0	0	0	0	0	4.409e-05	0	0	0.073	0.36709	T	0.178	0.29639	T	0.0	0.02946	B	0.004	0.10090	B	0.123725	0.02749	U	4.824660	1	0.08975	N	0	0.06538	N	-1.12	0.77593	T	0.64	0.02368	N	0.02	0.00407	-0.8924	0.48722	T	0.278	0.64967	T	10	0.05707103	0.06496	T	0.027546	0.50347	D	0.093	0.26882	0.35	0.34760	0.323342291347	0.31936	0.15343894541638417	0.15265	0.305927689878	0.32891	0.287709027529	0.08589	T	0.003747	0.03151	T	-0.369522	0.03618	T	-0.587041	0.13923	T	0.0814915001392365	0.10177	T	0.142386	0.01156	T	0.08879808	0.20726	0.119083226	0.28744	0.08879808	0.20726	0.119083226	0.28744	-4.177	0.26417	T	.	.	0.125	0.26357	B	.;.;.;.	.;.;.;.	-0.293134	0.02648	0.336	0.73400461603619127	0.10314	0.28220	0.23494	N	ALL	0.390512	0.46931	N	-1.11514838245652	0.06373	0.2931929	-1.19620889997644	0.05973	0.2861343	0.999999999993514	0.74766	0.545045	0.22601	0	0.52208	0.09955	0	0.601644	0.32324	0	0.56214	0.19341	0	.	.	2.63	0.567	0.16510	-1.238000	0.03029	-10.227000	0.00725	0.589000	0.31548	0.000000	0.06391	0.000000	0.08366	0.016000	0.10718	0.1598:0.2593:0.5809:0.0	3.705	0.07928	958	0.09170	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.000000	0.08333	1192.83	61	chr11	308282	.	G	A	1192.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-3.306;DP=293;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=56.78;MQRankSum=2.07;QD=17.54;ReadPosRankSum=0.834;SOR=0.693	GT:AD:DP:GQ:PL	0/1:25,43:68:99:1203,0,703	5	0	1	0
chr11	721200	721200	G	A	exonic	EPS8L2	.	nonsynonymous SNV	EPS8L2:NM_022772:exon8:c.G694A:p.E232K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.061	0.0526182111859	.	.	.	.	.	.	.	.	.	.	.	.	.	rs969250415	4.277e-05	4.241e-05	5.144e-05	3.384e-05	5.216e-05	3.368e-05	3.084e-05	4.119e-05	3.702e-05	0	2.922e-05	0	0	0	0	5.216e-05	3.49e-05	0	1.314e-05	1.313e-05	2.57e-05	0	2.94e-05	2.18e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.94e-05	0	0	0.587	0.07163	T	0.387	0.16134	T	0.585	0.38912	P	0.028	0.21332	B	0.255773	0.15415	U	0.566633	0.995155	0.23359	N	1.7	0.43825	L	1.01	0.41058	T	-0.78	0.21644	N	0.115	0.10769	-1.0632	0.10974	T	0.042	0.18118	T	10	0.110101044	0.20565	T	0.052618	0.65141	D	0.061	0.17616	.	.	0.326345978581	0.32251	0.3720341219793615	0.37117	0.118555148815	0.13351	0.724799394608	0.70746	T	0.03942	0.25181	T	-0.272941	0.11430	T	-0.449541	0.27747	T	0.0727227360442566	0.09028	T	0.838016	0.51077	T	0.07886947	0.17985	0.10723837	0.25813	0.07886947	0.17985	0.10723837	0.25813	-4.885	0.37143	T	.	.	0.108	0.20391	B	.;.;.;.;.;.	.;.;.;.;.;.	3.249795	0.44396	21.9	0.99784307410884265	0.87043	0.33780	0.24911	N	AEFDBHCI	0.145926	0.26926	N	-0.481559574477832	0.22685	1.213063	-0.487974568863686	0.22483	1.221434	0.997454573379319	0.35635	0.766844	0.99359	0	0.706955	0.78570	0	0.851219	0.99655	0	0.620976	0.48614	0	.	.	3.46	2.54	0.29674	0.864000	0.27581	7.316000	0.58145	0.583000	0.30283	0.026000	0.20160	1.000000	0.68203	0.161000	0.20682	0.1228:0.0:0.8772:0.0	8.333	0.31356	917	0.20147	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	298.83	35	chr11	721200	.	G	A	298.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.455;DP=169;ExcessHet=0;FS=1.455;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.3;ReadPosRankSum=0;SOR=0.666	GT:AD:DP:GQ:PL	0/1:16,13:29:99:309,0,381	5	0	1	0
chr11	824021	824021	C	T	exonic	PNPLA2	.	nonsynonymous SNV	PNPLA2:NM_020376:exon8:c.C943T:p.P315S	Neutral lipid storage disease with myopathy, Autosomal recessive	0	1517	5	0	0	5	0.00164528	.	.	.	254350	not_provided|Neutral_lipid_storage_myopathy|not_specified	MedGen:C3661900|MONDO:MONDO:0012545,MedGen:C1853136,OMIM:610717,Orphanet:98908|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.209	0.33132841879	0.0007	0.000199681	0.0007	0.0001	0.0001	0	0	0.0009	0.0017	0.0010	0.0004463	69	154602	rs150385364	0.0006	0.0006	0.0006	0.0006	0.0009	0.0006	0.0006	0.0008	0.0007	0.0002	6.734e-05	0	0	0	0.0002	0.0007	0.0008	0.0009	0.0003	0.0003	0.0003	0.0003	0.0005	0.0002	0.0002	0.0004	0.0004	0.0001	0	0	0	0	9.413e-05	0	0.0005	0	0.0004	0.464	0.08634	T	0.54	0.09760	T	0.032	0.20242	B	0.017	0.18140	B	0.000573	0.43250	D	0.136711	0.992137	0.23930	N	2.015	0.55033	M	-1.0	0.76037	T	-0.62	0.18248	N	0.281	0.31814	-0.8476	0.52134	T	0.280	0.65189	T	10	0.059498847	0.07161	T	0.331328	0.91759	D	0.209	0.49871	.	.	0.807158024866	0.80535	0.29495890902339594	0.29408	0.231326964674	0.25683	0.505202770233	0.39553	T	0.217792	0.58033	T	-0.322409	0.06702	T	-0.323841	0.42152	T	0.0366625383861337	0.03096	T	0.867613	0.56877	D	0.047395583	0.08094	0.041475486	0.04721	0.047395583	0.08094	0.041475486	0.04721	-7.992	0.61016	D	0.0972078754124502	0.06811	0.091	0.13127	B	.	.	3.045141	0.40835	21.2	0.98712740158102819	0.45083	0.78240	0.38571	D	AEFBHCI	0.621593	0.60623	D	-0.104107316047763	0.37213	2.161855	-0.000640972728408202	0.39687	2.356946	0.999132142658559	0.38535	0.706548	0.73137	0	0.606735	0.50208	0	0.643519	0.47002	0	0.714379	0.83352	0	.	.	4.18	3.18	0.35615	5.287000	0.65449	5.502000	0.48775	0.450000	0.21304	1.000000	0.71638	1.000000	0.68203	0.647000	0.32611	0.1827:0.6621:0.1553:0.0	8.32	0.31285	878	0.29785	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	469.83	31	chr11	824021	.	C	T	469.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.549;DP=208;ExcessHet=0;FS=4.363;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.93;ReadPosRankSum=0.341;SOR=0.634	GT:AD:DP:GQ:PL	0/1:23,20:43:99:480,0,581	5	0	1	0
chr11	1016991	1016991	T	0	exonic	MUC6	.	.	.	.	358	255	795	7	107	916	0.613343	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	3146.78	518	chr11	1016991	.	T	*	3146.78	.	AC=2;AF=0.2;AN=10;BaseQRankSum=2.12;DP=1882;ExcessHet=3.1439;FS=4.294;MLEAC=2;MLEAF=0.2;MQ=56.2;MQRankSum=-7.766;QD=2.24;ReadPosRankSum=-3.865;SOR=1.047	GT:AD:DP:GQ:PL	0/1:226,28:260:99:483,0,9553	3	0	2	1
chr11	1017579	1017579	C	T	exonic	MUC6	.	nonsynonymous SNV	MUC6:NM_005961:exon31:c.G5222A:p.S1741N	.	379	1037	103	0	3	106	0.0473128	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.020	0.00127213989756	.	.	0.0003	0.0003	8.9e-05	0.0002	0	0.0002	0.0023	0.0009	.	.	.	rs779142565	0.0009	0.0019	0.0010	0.0009	0.0040	0.0009	0.0009	0.0034	0.0032	0.0013	0.0016	0.0027	0.0040	9.574e-05	0.0019	0.0008	0.0016	0.0001	5.083e-05	0.0018	5.681e-05	4.458e-05	7.218e-05	2.31e-05	1.656e-05	1.301e-05	6.61e-06	2.645e-05	0.0012	7.218e-05	0	0	0.0001	0	4.902e-05	0	0	0.005	0.63226	D	0.098	0.39040	T	0.261	0.31520	B	0.365	0.43339	B	.	.	.	.	1	0.08975	N	2.165	0.60562	M	1.74	0.26301	T	-0.53	0.16393	N	0.172	0.18376	-0.9449	0.41830	T	0.069	0.28379	T	9	0.035974413	0.01872	T	0.001272	0.01733	T	0.020	0.03691	.	.	0.297031009988	0.29315	0.1879420106145481	0.18712	0.0825499896549	0.09315	0.215083733201	0.01045	T	0.037822	0.24615	T	-0.214861	0.18700	T	-0.54641	0.17672	T	0.112606115390961	0.13692	T	.	.	.	0.14775811	0.33763	0.22724147	0.47728	0.14775811	0.33763	0.22724147	0.47727	-4.814	0.34754	T	.	.	0.142	0.31304	B	.	.	0.957545	0.13342	9.843	0.86836777181076064	0.16806	0.02741	0.07418	N	AEFDGBCI	0.037637	0.05207	N	-0.913600083990715	0.10524	0.5032836	-1.09392490730971	0.07819	0.3818696	0.9999861933571	0.51787	0.004792	0.00041	3	0.008208	0.00037	3	0.0	0.00061	3	0.387032	0.06801	2	.	.	2.1	-0.0431	0.13190	-1.622000	0.02145	-0.668000	0.07948	0.333000	0.19617	0.000000	0.06391	0.008000	0.19753	0.004000	0.06068	0.218:0.3521:0.4298:0.0	5.328	0.15221	825	0.40060	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1	752.7	451	chr11	1017579	.	C	T	752.7	.	AC=1;AF=0.1;AN=10;BaseQRankSum=-3.112;DP=1584;ExcessHet=0;FS=0.758;MLEAC=1;MLEAF=0.1;MQ=58.7;MQRankSum=-10.89;QD=3.1;ReadPosRankSum=2.8;SOR=0.807	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:172,71:243:99:0|1:1017575_C_T:762,0,6855:1017575	4	0	1	1
chr11	1017633	1017797	GTTCCTGTACTGGTGGGGTTGGGGGTGATGTTGGTGGTAGAAGTTGAGGTGGCTTCAGCATGGTGTGTGGAGGAAGTGTGTGAATGTAGGGATGTAGAGGTTTTGGCTGTGTTTAATGAGCTCAGGGCTTGGCTGGTCCCGCTGGTGGTCAGCGTCATTGTTGGC	-	exonic	MUC6	.	nonframeshift deletion	MUC6:NM_005961:exon31:c.5004_5168del:p.T1670_P1724del	.	398	901	222	0	1	223	0.109684	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.059e-05	0.0002	7.118e-05	7.001e-05	0.0002	5.428e-05	4.898e-05	5.098e-05	3.761e-05	0.0002	0.0002	0.0002	0.0002	0	0	6.029e-05	0.0002	0	0	0.0005	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.125	471.64	450	chr11	1017632	.	GGTTCCTGTACTGGTGGGGTTGGGGGTGATGTTGGTGGTAGAAGTTGAGGTGGCTTCAGCATGGTGTGTGGAGGAAGTGTGTGAATGTAGGGATGTAGAGGTTTTGGCTGTGTTTAATGAGCTCAGGGCTTGGCTGGTCCCGCTGGTGGTCAGCGTCATTGTTGGC	G	471.64	.	AC=1;AF=0.125;AN=8;BaseQRankSum=-2.074;DP=1905;ExcessHet=0;FS=3.61;MLEAC=1;MLEAF=0.125;MQ=58.55;MQRankSum=-15.87;QD=0.78;ReadPosRankSum=-0.589;SOR=0.778	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:516,92:608:99:0|1:1017575_C_T:480,0,20667:1017575	3	0	1	2
chr11	1017655	1017655	G	0	exonic	MUC6	.	.	.	.	390	675	445	0	12	457	0.247911	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	3808.95	515	chr11	1017655	.	G	*	3808.95	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.801;DP=2161;ExcessHet=6.1542;FS=0.686;MLEAC=1;MLEAF=0.083;MQ=59.88;MQRankSum=0.69;QD=2.04;ReadPosRankSum=0.959;SOR=0.618	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:516,92:608:99:0|1:1017575_C_T:480,0,20667:1017575	5	0	1	0
chr11	1018290	1018290	G	A	exonic	MUC6	.	nonsynonymous SNV	MUC6:NM_005961:exon31:c.C4511T:p.P1504L	.	414	746	107	2	253	364	0.0692452	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.00130114034182	.	.	0.0003	0.0006	0.0002	0.0001	0.0005	0.0003	0.0011	0	1.94e-05	3	154602	rs776891354	1.107e-05	3.01e-05	1.651e-05	5.562e-06	2.261e-05	6.55e-06	5.3e-06	8.17e-06	6.48e-06	0	2.261e-05	0	0	0	0	1.361e-05	0	0	0.0001	0.0098	0.0001	9.374e-05	0.0007	5.246e-05	3.934e-05	0.0001	5.226e-05	0.0001	0	0	0	0.0007	0	0	9.554e-05	0	0	0.087	0.32453	T	0.452	0.12884	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	0.805	0.20218	L	2.32	0.16640	T	-0.07	0.08033	N	0.067	0.03956	-1.0134	0.25848	T	0.014	0.05465	T	9	0.022066832	0.00542	T	0.001301	0.01809	T	0.004	0.00165	.	.	0.141422826196	0.13715	0.17699347360380507	0.17618	0.090681263109	0.10232	0.182567775249	0.00120	T	0.011815	0.10487	T	-0.418061	0.01760	T	-0.838292	0.01125	T	0.0714186060218739	0.08849	T	.	.	.	0.023426026	0.01081	0.02954413	0.01305	0.023426026	0.01081	0.02954413	0.01304	-3.396	0.15003	T	.	.	0.071	0.04041	B	.	.	-1.051810	0.00700	0.020	0.59025517677381145	0.06128	0.00427	0.02100	N	AEFDGBI	0.028602	0.02550	N	-2.28884873487817	0.00048	0.002069904	-2.37477325509698	0.00045	0.001973028	0.999941380871367	0.47345	0.69289	0.55638	0	0.550933	0.16991	0	0.517114	0.09559	2	0.508809	0.08732	0	.	.	2.41	-4.82	0.02938	-5.543000	0.00137	-20.000000	0.00162	-5.324000	0.00012	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.3114:0.1979:0.3276:0.1631	0.642	0.00759	825	0.40060	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.25	1655.92	269	chr11	1018290	.	G	A	1655.92	.	AC=3;AF=0.25;AN=12;BaseQRankSum=3.99;DP=909;ExcessHet=6.1542;FS=19.265;MLEAC=3;MLEAF=0.25;MQ=55.23;MQRankSum=-5.755;QD=2.02;ReadPosRankSum=0.586;SOR=1.852	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:129,18:160:99:.:.:368,0,5363:.	3	0	3	0
chr11	1095877	1095879	CAC	-	exonic	MUC2	.	unknown	UNKNOWN	.	561	956	5	0	0	5	0.00260824	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1201642444	0.0007	0.0008	0.0007	0.0007	0.0021	0.0006	0.0006	0.0012	0.0010	0	0.0006	0	0	8.585e-05	0.0021	0.0007	0.0006	0.0008	0.0003	0.0004	0.0003	0.0004	0.0006	0.0002	0.0002	0.0004	0.0003	6.188e-05	0	0.0006	0	0	0	0	0.0005	0	0.0005	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	3768.79	118	chr11	1095876	.	TCAC	T	3768.79	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.408;DP=1060;ExcessHet=0;FS=5.441;MLEAC=1;MLEAF=0.083;MQ=56.23;MQRankSum=1.27;QD=21.66;ReadPosRankSum=0.271;SOR=0.85	GT:AD:DP:GQ:PL	0/1:77,97:174:99:3779,0,2758	5	0	1	0
chr11	1096743	1096743	T	C	exonic	MUC2	.	unknown	UNKNOWN	.	924	586	6	0	6	12	0.00509338	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0025	0.0052	0.0026	0.0024	0.0059	0.0023	0.0023	0.0041	0.0038	0.0056	0.0031	0.0026	0.0059	0.0052	0.0046	0.0020	0.0024	0.0050	0	0.0010	0	0	.	0	0	.	.	0	.	0	0	0	0	.	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2	144.13	17	chr11	1096743	.	T	C	144.13	.	AC=2;AF=0.2;AN=10;BaseQRankSum=3.11;DP=170;ExcessHet=1.383;FS=45.978;MLEAC=2;MLEAF=0.2;MQ=49.86;MQRankSum=-0.637;QD=2.06;ReadPosRankSum=-1.294;SOR=4.971	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:24,5:29:99:0|1:1096735_G_A:138,0,806:1096735	3	0	2	1
chr11	1099733	1099733	T	C	exonic	MUC2	.	unknown	UNKNOWN	.	426	1095	1	0	0	1	0.000456413	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00399361	0.0022	0.0009	0.0020	0	0.0009	0.0016	0	0.0081	0.002238	346	154602	rs9735156	0.0019	0.0021	0.0017	0.0021	0.0073	0.0019	0.0019	0.0069	0.0067	0.0002	0.0020	3.92e-05	0.0002	0.0007	0.0005	0.0018	0.0014	0.0073	0.0016	0.0019	0.0014	0.0018	0.0093	0.0014	0.0014	0.0071	0.0063	0.0007	0	0.0031	0	0.0002	0.0015	0	0.0015	0.0019	0.0093	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.08333	3146.83	38	chr11	1099733	.	T	C	3146.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=4.85;DP=1191;ExcessHet=0;FS=6.951;MLEAC=1;MLEAF=0.083;MQ=57.34;MQRankSum=0.926;QD=10.63;ReadPosRankSum=0.439;SOR=1.091	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:206,90:296:99:0|1:1099733_T_C:3157,0,8022:1099733	5	0	1	0
chr11	1099742	1099742	C	A	exonic	MUC2	.	unknown	UNKNOWN	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0.0001	0	0	0	0.0002	0	0.0007	0.0001811	28	154602	rs781429181	8.902e-06	3.079e-05	1.09e-05	6.884e-06	0.0002	4.97e-06	3.83e-06	7.42e-06	3.32e-06	0	4.476e-05	0	0	0	0.0002	9.001e-06	0	0	1.315e-05	7.222e-05	1.286e-05	1.344e-05	2.41e-05	2.18e-06	8.2e-07	.	.	2.41e-05	0	0	0	0	0	0	1.471e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	3294.83	38	chr11	1099742	.	C	A	3294.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.669;DP=1168;ExcessHet=0;FS=5.124;MLEAC=1;MLEAF=0.083;MQ=58.08;MQRankSum=-0.496;QD=11.64;ReadPosRankSum=2.06;SOR=1.015	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:190,93:283:99:0|1:1099733_T_C:3305,0,7648:1099733	5	0	1	0
chr11	1108182	1108182	C	T	exonic	MUC2	.	unknown	UNKNOWN	.	399	1110	13	0	0	13	0.00582176	.	.	.	2806474	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.043	0.0124149248463	0.0024	0.00179712	0.0020	0.0006	0.0023	0.0002	0.0003	0.0028	0.0034	0.0005	0.001934	299	154602	rs72655352	0.0022	0.0022	0.0022	0.0022	0.0080	0.0022	0.0021	0.0061	0.0055	0.0005	0.0021	0.0054	0	0.0002	0.0080	0.0024	0.0030	0.0008	0.0018	0.0018	0.0020	0.0017	0.0031	0.0017	0.0016	0.0024	0.0021	0.0005	0	0.0031	0.0055	0	9.416e-05	0.0034	0.0026	0.0066	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.008560	0.005051	0.013587	0.005882	0.000000	0.000000	0.006098	0.003788	0.08333	875.83	37	chr11	1108182	.	C	T	875.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.395;DP=250;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.27;ReadPosRankSum=0.167;SOR=0.693	GT:AD:DP:GQ:PL	0/1:31,35:66:99:886,0,755	5	0	1	0
chr11	1242824	1242824	C	G	exonic	MUC5B	.	nonsynonymous SNV	MUC5B:NM_002458:exon31:c.C5944G:p.P1982A	.	405	1100	17	0	0	17	0.00766802	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.007	0.00204751639038	.	.	0.0004	0.0010	0.0002	0.0007	0.0005	0.0003	0	0.0004	3.84e-05	1	26028	rs2943508	0.0003	0.0017	0.0003	0.0003	0.0035	0.0003	0.0003	0.0030	0.0028	0.0035	0.0005	0.0030	0.0002	0.0008	0.0005	0.0001	0.0007	0.0003	0.0010	0.0026	0.0010	0.0009	0.0025	0.0008	0.0008	0.0021	0.0019	0.0025	0	0.0007	0.0020	0.0004	0.0005	0	0.0002	0.0010	0.0004	0.451	0.08969	T	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	-1.31	0.00704	N	2.2	0.18570	T	-0.36	0.13035	N	0.035	0.01004	-0.9975	0.30618	T	0.021	0.08732	T	9	0.011864901	0.00257	T	0.002048	0.03748	T	0.007	0.00512	.	.	0.043077524339	0.03247	0.1337540641421184	0.13299	.	.	0.186318874359	0.00167	T	0.021853	0.16945	T	-0.731628	0.00023	T	-0.864242	0.00798	T	0.00157244652876611	0.00016	T	0.393961	0.09832	T	0.016689507	0.00215	0.03362263	0.02287	0.016689507	0.00215	0.03362263	0.02286	1.354	0.00095	T	.	.	0.048	0.00082	B	.	.	-1.101744	0.00638	0.017	0.5472258365673961	0.05195	0.00061	0.00447	N	AEFI	0.022417	0.01117	N	-1.81075945752716	0.00519	0.02235286	-1.90839802135919	0.00471	0.02086687	0.00724884832373696	0.11420	0.553676	0.25195	0	0.588015	0.36545	0	0.578056	0.29568	0	0.562822	0.20929	0	.	.	2.2	-4.39	0.03360	-4.721000	0.00225	-5.355000	0.01750	-1.493000	0.01042	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.101:0.5607:0.2191:0.1191	5.956	0.18508	970	0.06235	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	41.83	158	chr11	1242824	.	C	G	41.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-3.957;DP=1233;ExcessHet=0;FS=0.824;MLEAC=1;MLEAF=0.083;MQ=55.74;MQRankSum=-9.954;QD=0.08;ReadPosRankSum=0.085;SOR=0.543	GT:AD:DP:GQ:PL	0/1:437,59:496:52:52,0,11913	5	0	1	0
chr11	1243086	1243086	C	T	exonic	MUC5B	.	nonsynonymous SNV	MUC5B:NM_002458:exon31:c.C6206T:p.T2069M	.	426	1094	2	0	0	2	0.000913242	.	.	.	2806528	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.048	0.00106693567636	0.0008	0.000199681	0.0011	0.0001	0	0	0	0.0019	0	0.0004	0.0008926	138	154602	rs200274332	0.0007	0.0007	0.0007	0.0007	0.0005	0.0006	0.0006	0.0004	0.0004	5.978e-05	0.0003	0.0132	0.0001	7.501e-05	0.0002	0.0005	0.0013	0.0003	0.0006	0.0006	0.0007	0.0005	0.0006	0.0005	0.0005	0.0005	0.0004	9.671e-05	0	0.0001	0.0110	0	0	0	0.0006	0.0019	0.0004	0.017	0.51248	D	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	2.25	0.63811	M	2.11	0.19860	T	-0.63	0.18459	N	0.102	0.08506	-1.0517	0.13926	T	0.037	0.15856	T	9	0.005821556	0.00130	T	0.001067	0.01239	T	0.048	0.13305	.	.	0.043077524339	0.03247	0.28043873028528377	0.27956	.	.	0.228497773409	0.01859	T	0.023063	0.17673	T	-0.603127	0.00140	T	-0.70112	0.05764	T	0.0287645255378531	0.01801	T	0.519248	0.16884	T	0.020814711	0.00654	0.033245776	0.02187	0.020814711	0.00654	0.033245776	0.02187	-7.847	0.60022	D	.	.	0.098	0.16099	B	.	.	1.412233	0.18276	13.65	0.26092160421344807	0.01233	0.00332	0.01732	N	AEFI	0.025745	0.01815	N	-0.763962865962158	0.14257	0.7086992	-1.05345838246279	0.08635	0.4255293	2.32517762863591E-5	0.03498	0.553676	0.25195	0	0.588015	0.36545	0	0.578056	0.29568	0	0.613276	0.41899	0	.	.	1.11	-2.16	0.06684	0.746000	0.25942	-0.247000	0.10539	0.439000	0.21057	0.002000	0.15269	0.000000	0.08366	0.003000	0.05239	0.2613:0.5331:0.0:0.2056	3.159	0.06122	970	0.06235	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.08333	241.83	120	chr11	1243086	.	C	T	241.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=4.83;DP=766;ExcessHet=0;FS=1.049;MLEAC=1;MLEAF=0.083;MQ=46.42;MQRankSum=-5.392;QD=1.77;ReadPosRankSum=-1.338;SOR=0.712	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:122,15:137:99:0|1:1243086_C_T:252,0,4906:1243086	5	0	1	0
chr11	1243403	1243455	ACAGTGACTCCCTCCTCTGCCCTAGGGACCACCCACACACCCCCAGTGCCGAA	-	exonic	MUC5B	.	frameshift deletion	MUC5B:NM_002458:exon31:c.6523_6575del:p.T2175Hfs*66	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0	0	0	0	0.0003	0	0.0001	0.0002689	7	26028	.	0.0044	0.0062	0.0046	0.0042	0.0049	0.0043	0.0043	0.0048	0.0047	0.0005	0.0005	0.0038	0	0.0102	0.0008	0.0049	0.0037	0.0009	0.0011	0.0027	0.0011	0.0010	0.0014	0.0009	0.0009	0.0012	0.0011	0.0006	0	0.0004	0.0012	0	0.0024	0	0.0014	0.0021	0.0005	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	70.79	100	chr11	1243402	.	CACAGTGACTCCCTCCTCTGCCCTAGGGACCACCCACACACCCCCAGTGCCGAA	C	70.79	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.462;DP=598;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=38.92;MQRankSum=-1.976;QD=2.15;ReadPosRankSum=-0.885;SOR=0.793	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:29,4:33:81:0|1:1243365_TGACCACCACCGCCACCACACCTGCAGCCACCAG_T:81,0,1206:1243365	5	0	1	0
chr11	1243991	1243991	C	T	exonic	MUC5B	.	nonsynonymous SNV	MUC5B:NM_002458:exon31:c.C7111T:p.R2371W	.	.	.	.	.	.	.	.	.	.	.	3561574	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.103	0.00593006707451	.	.	0.0001	0	0	0.0023	0	0	0	0	3.84e-05	1	26028	rs534201099	0.0001	0.0002	0.0001	9.964e-05	0.0005	9.454e-05	8.933e-05	0.0004	0.0003	0.0001	2.248e-05	0	0.0005	1.901e-05	0	0.0001	0.0001	9.295e-05	7.266e-05	7.23e-05	7.751e-05	6.759e-05	0.0002	3.992e-05	3.142e-05	6.936e-05	5.111e-05	0	0	0	0	0.0002	0	0	0.0001	0	0.0002	0.001	0.78490	D	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	1.24	0.30952	L	2.25	0.17761	T	-2.48	0.54059	N	0.125	0.11769	-0.9614	0.38916	T	0.051	0.21844	T	9	0.023324668	0.00607	T	0.00593	0.15460	T	0.103	0.29403	.	.	0.043077524339	0.03247	0.5390046373407714	0.53825	.	.	0.384903311729	0.22949	T	0.020197	0.15948	T	-0.507232	0.00520	T	-0.64637	0.09211	T	0.141237691044807	0.16382	T	0.773423	0.40508	T	0.0783792	0.17846	0.12713356	0.30609	0.0783792	0.17845	0.12713356	0.30609	-5.238	0.39326	T	.	.	0.142	0.31125	B	.	.	0.028015	0.04481	1.193	0.85601857081855226	0.15995	0.00487	0.02312	N	AEFI	0.129253	0.24735	N	-1.20308313001095	0.04954	0.2247633	-1.52174567042142	0.02177	0.09974736	0.45582337350233	0.20581	0.553676	0.25195	0	0.588015	0.36545	0	0.576033	0.28219	0	0.613276	0.41899	0	.	.	3.54	-7.08	0.01404	-5.077000	0.00181	-20.000000	0.00162	-1.481000	0.01058	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1787:0.577:0.1684:0.0758	8.846	0.34329	970	0.06235	WxxW domain	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	36.83	35	chr11	1243991	.	C	T	36.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.256;DP=256;ExcessHet=0;FS=30.562;MLEAC=1;MLEAF=0.083;MQ=31.25;MQRankSum=-3.221;QD=0.71;ReadPosRankSum=1.37;SOR=2.51	GT:AD:DP:GQ:PL	0/1:45,7:52:47:47,0,1315	5	0	1	0
chr11	1244763	1244763	G	T	exonic	MUC5B	.	nonsynonymous SNV	MUC5B:NM_002458:exon31:c.G7883T:p.R2628L	.	422	1088	12	0	0	12	0.00548446	.	.	.	2393987	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.017	0.000668629977859	.	.	0.0003	0.0003	0.0003	0.0002	0.0002	0.0003	0.0011	0.0002	0.0002846	44	154602	rs201153963	7.285e-05	0.0017	7.796e-05	6.769e-05	0.0002	6.142e-05	5.726e-05	6.437e-05	5.935e-05	8.985e-05	4.497e-05	0	0	0	0.0002	7.767e-05	0.0001	5.809e-05	0.0002	0.0064	0.0002	0.0002	0.0002	0.0001	9.879e-05	0.0001	0.0001	0.0002	0	6.582e-05	0.0003	0	0	0	0.0002	0	0	0.271	0.15984	T	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	1.355	0.33814	L	2.01	0.21291	T	-0.48	0.15379	N	0.086	0.06322	-1.0386	0.17740	T	0.031	0.13155	T	9	0.056725234	0.06404	T	6.69E-4	0.00383	T	0.017	0.02790	.	.	0.043077524339	0.03247	0.2921260695239488	0.29125	.	.	0.186647862196	0.00171	T	0.022851	0.17544	T	-0.473443	0.00809	T	-0.736317	0.04047	T	0.029850899699308	0.01967	T	0.178782	0.01763	T	0.03685515	0.04613	0.05646688	0.10095	0.03685515	0.04612	0.05646688	0.10094	1.452	0.00086	T	.	.	0.114	0.22717	B	.	.	-1.223093	0.00508	0.011	0.52013723781534171	0.04668	0.00708	0.02999	N	AEFI	0.059239	0.11175	N	-1.70259080793403	0.00833	0.03600691	-1.8455150810957	0.00624	0.0277433	1.37673941154237E-4	0.05486	0.553676	0.25195	0	0.588015	0.36545	0	0.578056	0.29568	0	0.562822	0.20929	0	.	.	1.76	-3.52	0.04383	-3.415000	0.00532	-1.264000	0.05871	-5.321000	0.00012	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2069:0.5233:0.2698:0.0	7.567	0.27054	970	0.06235	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	343.83	45	chr11	1244763	.	G	T	343.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.225;DP=661;ExcessHet=0;FS=1.001;MLEAC=1;MLEAF=0.083;MQ=52.65;MQRankSum=-8.239;QD=0.82;ReadPosRankSum=2.68;SOR=1.016	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:383,36:419:99:0|1:1244763_G_T:354,0,15901:1244763	5	0	1	0
chr11	1244777	1244777	T	C	exonic	MUC5B	.	nonsynonymous SNV	MUC5B:NM_002458:exon31:c.T7897C:p.W2633R	.	424	1086	12	0	0	12	0.00549451	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.042	0.000436924540565	.	.	0.0002	0.0001	0.0002	0	0.0002	0.0003	0	6.058e-05	3.84e-05	1	26028	rs774768277	6.185e-06	0.0016	4.103e-06	8.288e-06	7.224e-06	2.91e-06	2.11e-06	3.11e-06	2.25e-06	0	0	0	0	1.906e-05	0	7.224e-06	0	0	0.0001	0.0065	0.0001	9.605e-05	0.0002	6.64e-05	5.427e-05	0.0001	9.179e-05	2.442e-05	0	6.585e-05	0	0	9.964e-05	0	0.0002	0	0	0.0	0.91255	D	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	-0.55	0.02420	N	2.0	0.21473	T	-0.82	0.22508	N	0.039	0.01274	-1.0070	0.27850	T	0.017	0.06950	T	9	0.051469415	0.05033	T	4.37E-4	0.00099	T	0.042	0.11227	.	.	0.043077524339	0.03247	0.3131512029563216	0.31228	.	.	0.183986455202	0.00136	T	0.022518	0.17347	T	-0.355514	0.04390	T	-0.748448	0.03546	T	0.0561389739529774	0.06547	T	0.09979	0.00741	T	0.122071005	0.28693	0.10221244	0.24491	0.122071005	0.28693	0.10221244	0.24490	-5.564	0.42462	T	.	.	0.073	0.04681	B	.	.	0.271837	0.06494	2.973	0.31848576285588981	0.01816	0.00106	0.00678	N	AEFI	0.024663	0.01565	N	-1.89331361441333	0.00354	0.01522118	-1.98516358587488	0.00329	0.01452942	6.91002621139919E-4	0.07622	0.553676	0.25195	0	0.588015	0.36545	0	0.578056	0.29568	0	0.562822	0.20929	0	.	.	1.36	-2.72	0.05616	-0.553000	0.06104	-9.992000	0.00752	-1.543000	0.00974	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1397:0.3105:0.2348:0.315	1.026	0.01433	970	0.06235	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	430.83	45	chr11	1244777	.	T	C	430.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.203;DP=632;ExcessHet=0;FS=3.169;MLEAC=1;MLEAF=0.083;MQ=52.23;MQRankSum=-7.905;QD=1.1;ReadPosRankSum=0.551;SOR=0.982	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:354,36:390:99:0|1:1244763_G_T:441,0,14572:1244763	5	0	1	0
chr11	1245213	1245213	C	T	exonic	MUC5B	.	nonsynonymous SNV	MUC5B:NM_002458:exon31:c.C8333T:p.T2778I	.	613	907	2	0	0	2	0.00110132	.	.	.	3415712	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.023	0.000966906910766	.	.	0.0003	0.0019	0	0.0008	0	0.0002	0	0.0003	0.0002305	6	26028	rs201587515	0.0010	0.0081	0.0010	0.0010	0.0029	0.0010	0.0010	0.0025	0.0023	0.0029	0.0004	0.0008	0.0002	0.0048	0.0002	0.0009	0.0009	0.0004	0.0018	0.0047	0.0019	0.0016	0.0025	0.0016	0.0015	0.0021	0.0020	0.0025	0	0.0004	0.0022	0	0.0022	0	0.0019	0.0005	0.0007	0.008	0.58626	D	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	1.155	0.29575	L	2.13	0.19588	T	-0.79	0.21860	N	0.071	0.04426	-1.0382	0.17863	T	0.037	0.15986	T	9	0.023375303	0.00610	T	9.67E-4	0.01003	T	0.023	0.04649	.	.	0.043077524339	0.03247	0.30675158290467086	0.30588	.	.	0.274089097977	0.06681	T	0.022435	0.17299	T	-0.348367	0.04831	T	-0.738181	0.03968	T	0.0122050581929686	0.00196	T	0.266473	0.04381	T	0.07363307	0.16468	0.0682227	0.14220	0.07363307	0.16467	0.0682227	0.14219	-3.095	0.11239	T	.	.	0.122	0.25462	B	.	.	0.137309	0.05316	1.808	0.59959044339541645	0.06348	0.01338	0.04604	N	AEFI	0.033206	0.03894	N	-0.727413001277045	0.15253	0.7671319	-0.975088836857857	0.10346	0.5205271	7.79414524778878E-6	0.01202	0.553676	0.25195	0	0.588015	0.36545	0	0.578056	0.29568	0	0.613276	0.41899	0	.	.	0.968	-0.087	0.13014	-0.997000	0.03816	0.217000	0.16029	0.394000	0.20511	0.000000	0.06391	0.000000	0.08366	0.006000	0.07323	0.0:0.7768:0.0:0.2232	5.098	0.14079	964	0.07719	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.08333	404.83	19	chr11	1245213	.	C	T	404.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.3;DP=254;ExcessHet=0;FS=4.934;MLEAC=1;MLEAF=0.083;MQ=35.19;MQRankSum=-0.422;QD=8.61;ReadPosRankSum=-3.052;SOR=1.609	GT:AD:DP:GQ:PL	0/1:33,14:47:99:415,0,1298	5	0	1	0
chr11	1246857	1246857	C	T	exonic	MUC5B	.	nonsynonymous SNV	MUC5B:NM_002458:exon31:c.C9977T:p.T3326M	.	434	1086	1	1	0	3	0.00137931	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.130	0.000990411457539	.	0.00119808	0.0005	0	0	0.0081	0	4.636e-05	0.0018	0.0002	0.0002305	6	26028	rs567876934	0.0002	0.0002	0.0002	0.0002	0.0046	0.0002	0.0002	0.0041	0.0039	2.991e-05	0.0001	0	0.0046	1.881e-05	0.0002	3.332e-05	0.0004	0.0004	0.0003	0.0003	0.0003	0.0003	0.0066	0.0002	0.0002	0.0048	0.0042	4.838e-05	0	0	0	0.0066	0	0	2.955e-05	0.0009	0.0006	0.001	0.78490	D	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	2.34	0.67151	M	2.08	0.20255	T	-1.17	0.29933	N	0.088	0.06587	-1.0178	0.24431	T	0.102	0.37618	T	9	0.006779015	0.00154	T	9.9E-4	0.01050	T	0.130	0.35528	.	.	0.043077524339	0.03247	0.2831348234125103	0.28226	.	.	0.265595018864	0.05575	T	0.028268	0.20514	T	-0.650421	0.00072	T	-0.70445	0.05585	T	0.0379257709820799	0.03319	T	0.507849	0.16117	T	0.03527459	0.04120	0.07090993	0.15124	0.03527459	0.04119	0.07090993	0.15123	-8.411	0.63838	D	.	.	0.116	0.23325	B	.	.	1.095303	0.14792	11.33	0.81183498453302272	0.13560	0.03039	0.07929	N	AEFI	0.059769	0.11313	N	-0.377867250243809	0.26258	1.431773	-0.674456688307878	0.17600	0.9366115	2.35663839265529E-5	0.03498	0.553676	0.25195	0	0.588015	0.36545	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	2.43	0.257	0.14830	-1.388000	0.02638	-1.427000	0.05465	-0.410000	0.05266	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.6537:0.3463:0.0	11.095	0.47357	958	0.09170	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	117.83	38	chr11	1246857	.	C	T	117.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.32;DP=823;ExcessHet=0;FS=2.954;MLEAC=1;MLEAF=0.083;MQ=38.13;MQRankSum=-3.948;QD=1.1;ReadPosRankSum=-0.094;SOR=1.39	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:97,10:107:99:0|1:1246857_C_T:128,0,4015:1246857	5	0	1	0
chr11	1247226	1247226	-	C	exonic	MUC5B	.	frameshift insertion	MUC5B:NM_002458:exon31:c.10347dupC:p.T3450Hfs*66	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001921	5	26028	rs1253784146	0.0034	0.0084	0.0036	0.0033	0.0039	0.0033	0.0033	0.0038	0.0038	0.0006	0.0007	0.0028	0	0.0041	0.0006	0.0039	0.0030	0.0009	0.0002	0.0011	0.0002	0.0002	0.0002	0.0001	8.995e-05	0.0001	9.318e-05	0.0001	0	0.0001	0	0	0.0002	0	0.0002	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	48.79	38	chr11	1247226	.	A	AC	48.79	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.85;DP=899;ExcessHet=0;FS=7.921;MLEAC=1;MLEAF=0.083;MQ=52.64;MQRankSum=-5.877;QD=0.3;ReadPosRankSum=-3.905;SOR=1.748	GT:AD:DP:GQ:PL	0/1:154,8:168:59:59,0,6425	5	0	1	0
chr11	1247967	1247967	T	A	exonic	MUC5B	.	nonsynonymous SNV	MUC5B:NM_002458:exon31:c.T11087A:p.L3696Q	.	418	1095	8	1	0	10	0.00454545	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.010	0.00130567419808	.	.	.	.	.	.	.	.	.	.	6.5e-06	1	154602	rs200634059	0.0002	0.0014	0.0002	0.0002	0.0001	0.0002	0.0001	0.0001	0.0001	2.992e-05	2.239e-05	0.0002	0	0.0016	0	0.0001	0.0002	0.0001	0.0003	0.0022	0.0003	0.0003	0.0004	0.0002	0.0002	0.0003	0.0002	0.0001	0	0.0001	0.0006	0	0.0012	0	0.0004	0	0	0.677	0.04469	T	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	1.7	0.43825	L	2.27	0.17431	T	-0.77	0.21429	N	0.153	0.15749	-1.0257	0.21853	T	0.026	0.10954	T	9	0.063252956	0.08211	T	0.001306	0.01809	T	0.010	0.01040	.	.	0.043077524339	0.03247	0.4561208433612859	0.45530	.	.	0.202009737492	0.00517	T	0.017989	0.14581	T	-0.347562	0.04882	T	-0.737025	0.04017	T	0.0346272595397258	0.02744	T	0.470553	0.13922	T	0.08773653	0.20442	0.07224727	0.15564	0.08773653	0.20441	0.07224727	0.15564	-5.376	0.40688	T	.	.	0.085	0.10400	B	.	.	-0.215227	0.03013	0.458	0.55347902546256733	0.05324	0.00552	0.02527	N	AEFI	0.049393	0.08528	N	-1.75707923278808	0.00659	0.02842352	-1.90214830955848	0.00485	0.02147955	8.7084895263696E-4	0.07931	0.553676	0.25195	0	0.588015	0.36545	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	1.98	-3.96	0.03833	-1.606000	0.02175	-1.921000	0.04493	-1.278000	0.01271	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1713:0.2842:0.0:0.5444	3.623	0.07646	958	0.09170	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	100.83	39	chr11	1247967	.	T	A	100.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.045;DP=408;ExcessHet=0;FS=10.792;MLEAC=1;MLEAF=0.083;MQ=54.41;MQRankSum=-5.856;QD=0.7;ReadPosRankSum=-0.207;SOR=1.518	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:131,13:144:99:0|1:1247967_T_A:111,0,5325:1247967	5	0	1	0
chr11	1247975	1247975	A	G	exonic	MUC5B	.	nonsynonymous SNV	MUC5B:NM_002458:exon31:c.A11095G:p.T3699A	.	422	1091	8	1	0	10	0.00456204	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.016	0.00206599972394	.	.	.	.	.	.	.	.	.	.	6.5e-06	1	154602	rs201830673	0.0002	0.0015	0.0002	0.0002	0.0002	0.0002	0.0002	0.0001	0.0001	2.992e-05	2.24e-05	0.0002	0	0.0016	0.0002	0.0001	0.0002	9.315e-05	0.0003	0.0021	0.0003	0.0004	0.0004	0.0002	0.0002	0.0002	0.0002	0.0001	0	0.0001	0.0003	0	0.0012	0	0.0003	0	0.0004	0.076	0.34269	T	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	0.835	0.21042	L	1.97	0.22067	T	-0.05	0.07736	N	0.037	0.01135	-1.0235	0.22573	T	0.027	0.11397	T	9	0.028978825	0.01026	T	0.002066	0.03775	T	0.016	0.02506	.	.	0.043077524339	0.03247	0.3564674410192791	0.35560	.	.	0.209255039692	0.00780	T	0.02129	0.16605	T	-0.356657	0.04322	T	-0.750089	0.03482	T	0.0880673557329466	0.10986	T	0.429357	0.11628	T	0.027399968	0.01926	0.03371914	0.02313	0.027399968	0.01925	0.03371914	0.02313	-5.817	0.44722	T	.	.	0.072	0.04159	B	.	.	-0.596247	0.01582	0.106	0.21294764149883202	0.00805	0.00237	0.01320	N	AEFI	0.043690	0.06936	N	-2.65331805414328	0.00007	0.0003049135	-2.77925892932195	0.00005	0.0002279892	0.949272003443495	0.27839	0.553676	0.25195	0	0.588015	0.36545	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	2.82	-5.64	0.02269	-1.644000	0.02104	-4.482000	0.02134	-0.998000	0.01821	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2353:0.2501:0.3788:0.1357	1.908	0.03082	958	0.09170	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	69.83	39	chr11	1247975	.	A	G	69.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.7;DP=402;ExcessHet=0;FS=15.858;MLEAC=1;MLEAF=0.083;MQ=54.22;MQRankSum=-5.21;QD=0.51;ReadPosRankSum=1.42;SOR=2.466	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:127,11:138:80:0|1:1247967_T_A:80,0,5233:1247967	5	0	1	0
chr11	1247990	1247990	-	CA	exonic	MUC5B	.	frameshift insertion	MUC5B:NM_002458:exon31:c.11110_11111insCA:p.E3704Afs*29	.	421	1092	8	1	0	10	0.00455789	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1280607510	0.0002	0.0015	0.0002	0.0002	0.0001	0.0002	0.0002	0.0001	0.0001	2.992e-05	2.239e-05	0.0002	0	0.0016	0	0.0001	0.0002	0.0001	0.0003	0.0022	0.0003	0.0004	0.0004	0.0003	0.0002	0.0003	0.0003	0.0001	0	0.0001	0.0003	0	0.0011	0	0.0004	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	84.79	39	chr11	1247990	.	G	GCA	84.79	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.924;DP=390;ExcessHet=0;FS=12.47;MLEAC=1;MLEAF=0.083;MQ=52.71;MQRankSum=-4.524;QD=0.64;ReadPosRankSum=2.85;SOR=2.489	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:122,11:133:95:0|1:1247967_T_A:95,0,5090:1247967	5	0	1	0
chr11	1247992	1247993	GT	-	exonic	MUC5B	.	frameshift deletion	MUC5B:NM_002458:exon31:c.11112_11113del:p.E3704Dfs*233	.	424	1089	8	1	0	10	0.00457038	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1250894594	0.0002	0.0018	0.0002	0.0002	0.0001	0.0002	0.0002	0.0001	0.0001	2.999e-05	2.241e-05	0.0002	0	0.0015	0	0.0001	0.0003	0.0001	0.0004	0.0023	0.0003	0.0004	0.0005	0.0003	0.0002	0.0003	0.0003	0.0001	0	0.0001	0.0003	0	0.0012	0	0.0005	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	81.79	39	chr11	1247991	.	AGT	A	81.79	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.773;DP=391;ExcessHet=0;FS=12.237;MLEAC=1;MLEAF=0.083;MQ=52.35;MQRankSum=-4.379;QD=0.61;ReadPosRankSum=3.18;SOR=2.465	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:123,11:134:92:0|1:1247967_T_A:92,0,5081:1247967	5	0	1	0
chr11	1248015	1248015	C	T	exonic	MUC5B	.	nonsynonymous SNV	MUC5B:NM_002458:exon31:c.C11135T:p.P3712L	.	425	1088	8	1	0	10	0.00457457	.	.	.	2806586	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.024	0.00163941383286	.	.	0.0001	0.0001	8.655e-05	0.0009	0	3.045e-05	0	0	6.5e-06	1	154602	rs768796024	0.0004	0.0058	0.0004	0.0003	0.0009	0.0003	0.0003	0.0003	0.0003	9.036e-05	6.747e-05	0.0002	0.0005	0.0025	0.0009	0.0003	0.0003	0.0003	0.0006	0.0031	0.0007	0.0006	0.0008	0.0005	0.0005	0.0006	0.0006	0.0003	0	0.0003	0.0003	0.0006	0.0016	0	0.0008	0	0.0006	0.483	0.08164	T	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	1.415	0.35607	L	2.16	0.19166	T	-1.73	0.41046	N	0.059	0.03069	-1.0216	0.23195	T	0.040	0.17149	T	9	0.025567085	0.00747	T	0.001639	0.02676	T	0.024	0.04979	.	.	0.043077524339	0.03247	0.41931647305188957	0.41847	.	.	0.244248837233	0.03186	T	0.021356	0.16647	T	-0.64035	0.00083	T	-0.766709	0.02878	T	0.0179423793737533	0.00520	T	0.351565	0.07865	T	0.018587694	0.00381	0.036532283	0.03119	0.018587694	0.00381	0.036532283	0.03119	-6.192	0.47858	T	.	.	0.137	0.29860	B	.	.	0.153092	0.05450	1.920	0.81010241590012655	0.13476	0.00591	0.02650	N	AEFI	0.032740	0.03755	N	-0.961840334933017	0.09428	0.4461714	-1.04850934845842	0.08738	0.4311007	1.3978619616351E-5	0.02871	0.553676	0.25195	0	0.588015	0.36545	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	3.27	1.16	0.19936	-4.892000	0.00202	-2.513000	0.03663	-0.385000	0.05372	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.6728:0.0:0.3272	7.448	0.26395	958	0.09170	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.08333	120.83	39	chr11	1248015	.	C	T	120.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.68;DP=378;ExcessHet=0;FS=9.626;MLEAC=1;MLEAF=0.083;MQ=50.03;MQRankSum=-3.61;QD=1;ReadPosRankSum=2.53;SOR=2.299	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:110,11:121:99:0|1:1247967_T_A:131,0,4363:1247967	5	0	1	0
chr11	1248063	1248063	C	T	exonic	MUC5B	.	nonsynonymous SNV	MUC5B:NM_002458:exon31:c.C11183T:p.T3728I	.	428	1088	5	1	0	7	0.0032066	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.022	0.00122992940009	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1470624633	9.68e-05	0.0003	0.0001	9.108e-05	6.962e-05	8.339e-05	7.877e-05	4.911e-05	4.494e-05	2.992e-05	2.238e-05	0	0	0.0011	0	6.129e-05	0.0001	6.962e-05	0.0002	0.0008	0.0002	0.0001	0.0002	0.0001	0.0001	0.0001	0.0001	0.0001	0	0.0002	0	0	0.0003	0	0.0002	0	0	0.081	0.33418	T	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	1.965	0.53209	M	2.08	0.20255	T	-1.16	0.29727	N	0.05	0.02179	-1.0119	0.26322	T	0.042	0.17869	T	9	0.10078734	0.18377	T	0.00123	0.01633	T	0.022	0.04323	.	.	0.043077524339	0.03247	0.3793512509731646	0.37850	.	.	0.32149374485	0.13649	T	0.036303	0.24050	T	-0.479231	0.00747	T	-0.743391	0.03749	T	0.0369545324081952	0.03147	T	0.571443	0.20372	T	0.03850974	0.05144	0.044887517	0.05918	0.03850974	0.05143	0.044887517	0.05917	-5.854	0.45042	T	.	.	0.202	0.42678	B	.	.	1.255567	0.16531	12.60	0.91848487515983446	0.21161	0.00551	0.02524	N	AEFI	0.040960	0.06164	N	-0.900183194118483	0.10838	0.5199271	-1.08075534224448	0.08079	0.3957022	8.89922730734236E-6	0.01202	0.553676	0.25195	0	0.588015	0.36545	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	1.31	-0.879	0.10076	-0.547000	0.06145	-1.619000	0.05048	0.327000	0.19478	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.0:0.4686:0.3109:0.2205	2.662	0.04722	958	0.09170	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	89.83	39	chr11	1248063	.	C	T	89.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.14;DP=352;ExcessHet=0;FS=7.986;MLEAC=1;MLEAF=0.083;MQ=44.1;MQRankSum=-2.074;QD=0.97;ReadPosRankSum=-2.842;SOR=2.133	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:83,10:93:99:0|1:1248063_C_T:100,0,3271:1248063	5	0	1	0
chr11	1248480	1248480	C	G	exonic	MUC5B	.	nonsynonymous SNV	MUC5B:NM_002458:exon31:c.C11600G:p.T3867S	.	413	1104	4	1	0	6	0.00271003	.	.	.	2392311	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.042	0.000647662265824	.	.	9.993e-05	0.0005	0	0	0	0.0001	0	0	3.84e-05	1	26028	rs760255789	0.0004	0.0053	0.0005	0.0004	0.0004	0.0004	0.0004	0.0004	0.0004	0.0003	0.0001	0.0002	0	0.0021	0	0.0004	0.0005	0.0002	0.0009	0.0041	0.0011	0.0007	0.0014	0.0008	0.0008	0.0012	0.0011	0.0004	0	0.0001	0.0012	0	0.0020	0	0.0014	0.0010	0	0.081	0.33418	T	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	1.04	0.26193	L	2.14	0.19450	T	-0.48	0.15379	N	0.212	0.23632	-1.0498	0.14453	T	0.074	0.30023	T	9	0.09746829	0.17557	T	6.48E-4	0.00350	T	0.042	0.11227	.	.	0.043077524339	0.03247	0.1723493437124335	0.17154	.	.	0.269512474537	0.06077	T	0.020581	0.16179	T	-0.339343	0.05434	T	-0.725219	0.04548	T	0.0284981456361258	0.01762	T	0.215678	0.02687	T	0.0470713	0.07985	0.04731589	0.06787	0.0470713	0.07984	0.04731589	0.06786	-8.368	0.63552	D	.	.	0.141	0.31023	B	.	.	-0.178734	0.03201	0.530	0.66509984805745181	0.08080	0.00607	0.02700	N	AEFI	0.028204	0.02443	N	-0.718821208038785	0.15493	0.7812755	-1.05486022119159	0.08606	0.4239504	0.00247832193061608	0.09461	0.553676	0.25195	0	0.588015	0.36545	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	1.93	-3.86	0.03951	-0.124000	0.10571	-2.521000	0.03653	0.292000	0.18798	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.4533:0.2628:0.2839	5.418	0.15683	958	0.09170	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	624.83	132	chr11	1248480	.	C	G	624.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=5.15;DP=1081;ExcessHet=0;FS=48.695;MLEAC=1;MLEAF=0.083;MQ=52.21;MQRankSum=-6.656;QD=3.83;ReadPosRankSum=-4.174;SOR=4.936	GT:AD:DP:GQ:PL	0/1:137,26:163:99:635,0,5635	5	0	1	0
chr11	1248533	1248533	C	A	exonic	MUC5B	.	nonsynonymous SNV	MUC5B:NM_002458:exon31:c.C11653A:p.R3885S	.	413	1093	16	0	0	16	0.00726612	.	.	.	3547444	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.028	.	.	0.00978435	0.0067	0.0065	0.0016	0	0.0103	0.0088	0.0079	0.0040	0.0003169	49	154602	rs200531133	0.0004	0.0049	0.0005	0.0004	0.0044	0.0004	0.0004	0.0038	0.0036	0.0044	0.0002	7.75e-05	0	0.0035	0	0.0002	0.0005	0.0001	0.0019	0.0076	0.0019	0.0019	0.0041	0.0017	0.0017	0.0036	0.0034	0.0041	0	0.0007	0.0021	0	0.0024	0	0.0010	0.0019	0.0006	0.145	0.25154	T	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	0.665	0.16292	N	1.65	0.27650	T	-0.29	0.11728	N	0.038	0.01203	-1.0076	0.27665	T	0.048	0.20513	T	9	0.004948646	0.00106	T	.	.	.	0.028	0.06331	.	.	0.043077524339	0.03247	0.1732607520863186	0.17246	.	.	0.184156805277	0.00138	T	0.019783	0.15694	T	-0.710598	0.00032	T	-0.791721	0.02118	T	0.0021594767596445	0.00022	T	0.178282	0.01754	T	0.07202977	0.15990	0.055887517	0.09886	0.07202977	0.15990	0.055887517	0.09885	-3.01	0.10289	T	.	.	0.144	0.31733	B	.	.	-2.391566	0.00041	0.001	0.55390806864209352	0.05333	0.01295	0.04505	N	AEFI	0.049243	0.08487	N	-1.10216974858904	0.06605	0.3045007	-1.19833447619775	0.05938	0.2843696	8.94112762282216E-6	0.01202	0.553676	0.25195	0	0.588015	0.36545	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	2.76	-0.905	0.09992	-3.514000	0.00496	-13.430000	0.00459	-5.602000	0.00009	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1675:0.5686:0.0:0.2639	4.814	0.12722	958	0.09170	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.004782	0.000000	0.004076	0.012295	0.050000	0.000000	0.006135	0.000000	0.08333	606.83	132	chr11	1248533	.	C	A	606.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.39;DP=1150;ExcessHet=0;FS=3.853;MLEAC=1;MLEAF=0.083;MQ=52.03;MQRankSum=-4.994;QD=2.66;ReadPosRankSum=0.257;SOR=1.121	GT:AD:DP:GQ:PL	0/1:198,30:228:99:617,0,8060	5	0	1	0
chr11	1249171	1249171	G	0	exonic	MUC5B	.	.	.	.	465	977	67	1	12	81	0.0341078	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	263.04	78	chr11	1249171	.	G	*	263.04	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.13;DP=473;ExcessHet=0.4139;FS=5.736;MLEAC=1;MLEAF=0.083;MQ=52.91;MQRankSum=-0.925;QD=1.12;ReadPosRankSum=-0.006;SOR=1.068	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:92,63:156:99:.:.:2295,0,3748:.	5	0	1	0
chr11	1630383	1630413	TTACTGCTGCCAGTCCAGCTGCTGTAAGCCC	0	exonic	KRTAP5-5	.	.	.	.	532	195	381	185	229	980	0.658195	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	23371.7	140	chr11	1630383	.	TTACTGCTGCCAGTCCAGCTGCTGTAAGCCC	*	23371.7	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.19;DP=1001;ExcessHet=0.4139;FS=0;MLEAC=1;MLEAF=0.083;MQ=58.4;MQRankSum=-3.847;QD=28.96;ReadPosRankSum=0.341;SOR=0.702	GT:AD:DP:GQ:PL	0/1:0,47:121:99:4561,2714,3144	5	0	1	0
chr11	1754122	1754122	C	T	exonic	CTSD	.	nonsynonymous SNV	CTSD:NM_001909:exon7:c.G844A:p.G282R	Ceroid lipofuscinosis, neuronal, 10, Autosomal recessive	0	1426	88	8	0	104	0.0351827	.	.	.	134325	Neuronal_ceroid_lipofuscinosis|Inborn_genetic_diseases|not_provided|Neuronal_ceroid_lipofuscinosis_10|not_specified	MONDO:MONDO:0016295,MedGen:C0027877,OMIM:PS256730,Orphanet:216,Orphanet:79263|MeSH:D030342,MedGen:C0950123|MedGen:C3661900|MONDO:MONDO:0012414,MedGen:C1864669,OMIM:610127,Orphanet:228337|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.033	.	0.0045	0.0061901	0.0101	0.0008	0.0024	0.0003	0.0377	0.0087	0.0142	0.0224	0.0080594	1246	154602	rs147278302	0.0068	0.0068	0.0060	0.0076	0.0229	0.0067	0.0066	0.0211	0.0207	0.0006	0.0028	0.0135	0.0001	0.0320	0.0229	0.0048	0.0068	0.0219	0.0070	0.0070	0.0057	0.0084	0.0209	0.0066	0.0065	0.0176	0.0164	0.0008	0	0.0022	0.0136	0.0002	0.0360	0.0204	0.0066	0.0057	0.0209	0.232	0.18626	T	0.43	0.13713	T	0.011	0.15914	B	0.014	0.16862	B	0.432569	0.12729	N	0.767787	0.946974	0.26614	N	1.1	0.28011	L	0.42	0.56937	T	-0.76	0.25986	N	0.291	0.32921	-1.0254	0.21952	T	0.079	0.31405	T	10	0.0025467277	0.00039	T	.	.	.	0.033	0.08068	0.166	0.07071	0.511220899679	0.50763	0.4915701163374237	0.49078	0.63775699092	0.57515	0.327924966812	0.14620	T	0.242323	0.61104	T	-0.454566	0.01061	T	-0.409472	0.32285	T	0.0055011973655921	0.00060	T	0.933807	0.75196	D	0.17140512	0.37772	0.091029905	0.21379	0.17140512	0.37771	0.091029905	0.21379	-10.109	0.74562	D	0.14159384124689586	0.15943	0.272	0.55774	B	.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.	1.713385	0.21816	15.36	0.96623031341708565	0.30488	0.12184	0.17112	N	AEFDBCI	0.269038	0.38540	N	-0.777187391856778	0.13905	0.6885494	-0.763047824866904	0.15402	0.8098793	0.999408125914284	0.39524	0.706548	0.73137	0	0.643519	0.57511	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	4.25	2.13	0.26445	0.777000	0.26379	-0.030000	0.12807	0.599000	0.40250	0.001000	0.13787	0.000000	0.08366	0.770000	0.36519	0.0:0.754:0.149:0.097	8.659	0.33241	982	0.03397	.;.;Peptidase family A1 domain|Peptidase family A1 domain;Peptidase family A1 domain|Peptidase family A1 domain;Peptidase family A1 domain|Peptidase family A1 domain;Peptidase family A1 domain|Peptidase family A1 domain;Peptidase family A1 domain|Peptidase family A1 domain;Peptidase family A1 domain|Peptidase family A1 domain;Peptidase family A1 domain|Peptidase family A1 domain;Peptidase family A1 domain|Peptidase family A1 domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.014691	0.005208	0.004076	0.026316	0.000000	0.017241	0.027607	0.018939	0.08333	822.83	63	chr11	1754122	.	C	T	822.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.567;DP=407;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.16;ReadPosRankSum=-1.307;SOR=0.691	GT:AD:DP:GQ:PL	0/1:45,36:81:99:833,0,1053	5	0	1	0
chr11	5178588	5178588	C	0	exonic	OR52Z1	.	.	.	.	442	140	439	496	5	1436	0.836353	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4167	555.01	40	chr11	5178588	.	C	*	555.01	.	AC=5;AF=0.417;AN=12;BaseQRankSum=-3.439;DP=240;ExcessHet=2.3007;FS=3.529;MLEAC=5;MLEAF=0.417;MQ=60;MQRankSum=0;QD=2.86;ReadPosRankSum=-1.301;SOR=0.425	GT:AD:DP:GQ:PL	0/1:19,28:47:99:907,0,565	2	1	3	0
chr11	5342819	5342819	G	C	exonic	OR51B5	.	nonsynonymous SNV	OR51B5:NM_001005567:exon5:c.C706G:p.L236V	.	436	1059	23	4	0	31	0.0144253	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.130	0.00581998553089	0.0019	0.000599042	0.0025	0.0006	0.0012	0	0.0012	0.0026	0.0033	0.0063	0.002348	363	154602	rs140543559	0.0029	0.0029	0.0028	0.0029	0.0068	0.0028	0.0028	0.0064	0.0062	0.0003	0.0009	0.0007	2.519e-05	0.0012	0.0066	0.0030	0.0027	0.0068	0.0019	0.0019	0.0017	0.0021	0.0068	0.0017	0.0016	0.0050	0.0044	0.0005	0	0.0016	0.0009	0	0.0015	0.0068	0.0027	0.0024	0.0068	0.02	0.49613	D	0.018	0.59732	D	0.997	0.70673	D	0.968	0.71741	D	0.177258	0.17202	N	0.415917	1	0.81001	D	2.785	0.81254	M	8.65	0.00144	T	-2.53	0.54864	D	0.11	0.09631	-0.9521	0.40608	T	0.001	0.00438	T	10	0.005307317	0.00116	T	0.00582	0.15131	T	0.130	0.35528	.	.	0.274366138417	0.27033	0.022311389364349156	0.02183	0.0136984243272	0.01312	0.18676237762	0.00173	T	0.009763	0.08869	T	-0.56003	0.00254	T	-0.573635	0.15117	T	0.0331144742684216	0.02490	T	0.961004	0.85375	D	0.092088416	0.21594	0.17780884	0.40407	0.092088416	0.21594	0.17780884	0.40407	-6.222	0.48101	T	.	.	0.124	0.26010	B	.	.	1.331477	0.17365	13.12	0.99798359245562285	0.88372	0.44720	0.27380	N	AEFGBI	0.307269	0.41419	N	0.166970966708866	0.49619	3.16022	-0.00928002046424085	0.39294	2.327644	0.0308478271183786	0.13968	0.487112	0.14033	0	0.547309	0.14657	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.92	2.06	0.25932	-1.192000	0.03161	.	.	-0.742000	0.03659	0.000000	0.06391	0.000000	0.08366	0.086000	0.17578	0.4306:0.0:0.5694:0.0	7.043	0.24212	870	0.31527	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002014	0.000000	0.001359	0.002924	0.000000	0.008621	0.000000	0.003788	0.08333	1347.83	40	chr11	5342819	.	G	C	1347.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.046;DP=288;ExcessHet=0;FS=0.731;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.48;ReadPosRankSum=0.674;SOR=0.594	GT:AD:DP:GQ:PL	0/1:57,51:108:99:1358,0,1595	5	0	1	0
chr11	6547636	6547636	C	T	exonic	DNHD1	.	nonsynonymous SNV	DNHD1:NM_144666:exon21:c.C6697T:p.R2233C	.	434	1071	15	2	0	19	0.00879223	.	.	.	1670601	not_provided|DNHD1-related_disorder	MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.105	.	0.0064	0.00419329	0.0130	0.0079	0.0029	0	0	0.0066	0.0130	0.0336	0.0023997	371	154602	rs117939157	0.0065	0.0062	0.0061	0.0068	0.0204	0.0063	0.0063	0.0195	0.0192	0.0081	0.0013	0.0067	0.0001	0.0007	0.0036	0.0061	0.0048	0.0204	0.0058	0.0058	0.0057	0.0058	0.0154	0.0054	0.0053	0.0126	0.0115	0.0088	0	0.0017	0.0060	0.0002	0.0007	0.0068	0.0055	0.0024	0.0154	0.164	0.23360	T	0.004	0.74150	D	0.99	0.63424	D	0.53	0.48544	P	0.866569	0.07149	N	1.062860	0.968442	0.25801	N	2.35	0.67516	M	1.63	0.28002	T	-1.64	0.39314	N	0.213	0.23758	-1.0531	0.13547	T	0.053	0.22501	T	10	0.004265189	0.00085	T	.	.	.	0.105	0.29889	.	.	0.398283496042	0.39440	0.16205055164973825	0.16126	0.420025717159	0.42536	0.223574578762	0.01527	T	0.011186	0.10013	T	-0.501908	0.00558	T	-0.478137	0.24643	T	0.0237728193375252	0.01117	T	0.655434	0.26547	T	0.06109274	0.12611	0.042963356	0.05238	0.06109274	0.12611	0.042963356	0.05237	-4.18	0.26461	T	.	.	0.086	0.10642	B	.;.	.;.	2.216652	0.28284	17.75	0.99718684397666835	0.81914	0.47592	0.28017	N	AEFBI	0.114976	0.22625	N	-0.382220235524935	0.26102	1.422027	-0.482424820534155	0.22637	1.23058	0.00615243879697362	0.11143	0.67177	0.52595	0	0.702456	0.74545	0	0.658983	0.55881	0	0.567892	0.33627	0	.	.	6.17	2.92	0.32998	0.765000	0.26211	0.370000	0.17667	-0.218000	0.08083	0.505000	0.26994	0.023000	0.20922	0.001000	0.02609	0.1518:0.6028:0.1464:0.099	4.302	0.10372	473	0.77910	.;.	.	.	.	.	rs117939157	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.003529	0.005319	0.006667	0.000000	0.000000	0.000000	0.000000	0.011905	0.08333	436.83	27	chr11	6547636	.	C	T	436.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.21;DP=182;ExcessHet=0;FS=5.449;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.65;ReadPosRankSum=0.396;SOR=0.595	GT:AD:DP:GQ:PL	0/1:16,16:32:99:447,0,402	5	0	1	0
chr11	6630130	6630130	G	T	exonic	DCHS1	.	nonsynonymous SNV	DCHS1:NM_003737:exon10:c.C4664A:p.P1555Q	Mitral valve prolapse 2, Autosomal dominant;Van Maldergem syndrome 1, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.102	0.0057983207862	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.368e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.277	0.15665	T	0.185	0.28958	T	0.021	0.18474	B	0.026	0.20792	B	0.000393	0.44960	D	0.000000	0.535504	0.32010	D	1.81	0.47622	L	4.67	0.01735	T	-1.3	0.32590	N	0.269	0.30461	-1.1317	0.01703	T	0.010	0.03856	T	10	0.11152524	0.20886	T	0.005798	0.15072	T	0.102	0.29158	0.457	0.52265	0.295226631146	0.29124	0.6586779977676052	0.65804	0.768272729556	0.64638	0.502455472946	0.39170	T	0.132169	0.46209	T	-0.224116	0.17434	T	-0.559704	0.16404	T	0.691428303718567	0.40314	D	0.751525	0.37371	T	0.04905398	0.08650	0.06823634	0.14223	0.04905398	0.08649	0.06823634	0.14223	-5.635	0.43111	T	.	.	0.131	0.28145	B	.	.	4.118113	0.61526	24.3	0.9881281280720281	0.46655	0.43753	0.27168	N	AEFDGBCI	0.162262	0.28842	N	-0.247320425823186	0.31210	1.747782	-0.18580808398558	0.32056	1.820101	0.999999977142135	0.74766	0.706548	0.73137	0	0.547309	0.14657	0	0.64067	0.45733	0	0.714379	0.83352	0	.	.	4.92	4.0	0.45673	1.730000	0.37748	8.446000	0.77207	0.652000	0.53365	0.279000	0.25131	1.000000	0.68203	0.983000	0.59808	0.0787:0.1416:0.7797:0.0	9.87	0.40337	238	0.90711	Cadherin-like	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001008	0.005102	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.08333	534.83	33	chr11	6630130	.	G	T	534.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.906;DP=234;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=8.91;ReadPosRankSum=-0.143;SOR=0.737	GT:AD:DP:GQ:PL	0/1:36,24:60:99:545,0,1071	5	0	1	0
chr11	7648505	7648505	T	A	exonic	PPFIBP2	.	nonsynonymous SNV	PPFIBP2:NM_001256569:exon14:c.T1336A:p.L446I,PPFIBP2:NM_001256568:exon15:c.T1429A:p.L477I,PPFIBP2:NM_001351858:exon16:c.T1534A:p.L512I,PPFIBP2:NM_001351860:exon16:c.T1558A:p.L520I,PPFIBP2:NM_001351861:exon16:c.T1534A:p.L512I,PPFIBP2:NM_001351857:exon17:c.T1567A:p.L523I,PPFIBP2:NM_001351859:exon17:c.T1567A:p.L523I,PPFIBP2:NM_001351854:exon18:c.T1765A:p.L589I,PPFIBP2:NM_001351856:exon18:c.T1771A:p.L591I,PPFIBP2:NM_003621:exon18:c.T1765A:p.L589I,PPFIBP2:NM_001351853:exon19:c.T1798A:p.L600I,PPFIBP2:NM_001351855:exon19:c.T1798A:p.L600I,PPFIBP2:NM_001351862:exon19:c.T1765A:p.L589I	.	430	1058	34	0	0	34	0.015814	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.262	.	0.0016	0.0061901	0.0050	0.0008	0.0048	0.0002	0.0005	0.0024	0.0077	0.0228	0.0045019	696	154602	rs149157151	0.0039	0.0039	0.0032	0.0045	0.0245	0.0038	0.0037	0.0237	0.0233	0.0004	0.0035	0.0001	5.038e-05	0.0004	0.0052	0.0027	0.0043	0.0245	0.0026	0.0026	0.0021	0.0031	0.0262	0.0024	0.0023	0.0225	0.0211	0.0004	0	0.0037	0	0	0.0005	0	0.0026	0.0038	0.0262	0.0	0.91255	D	0.063	0.92824	T	0.985	0.61118	D	0.987	0.77487	D	0.000023	0.55875	D	0.000000	0.788904	0.34361	D	2.79	0.81396	M	0.61	0.53516	T	-1.85	0.43334	N	0.769	0.79118	-0.4659	0.69868	T	0.212	0.57307	T	10	0.0106392205	0.00236	T	.	.	.	0.262	0.57482	.	.	0.574091456918	0.57077	0.49773145617975584	0.49694	0.231808938952	0.25732	0.570495069027	0.48747	T	0.120955	0.44357	T	-0.29851	0.08801	T	-0.183312	0.56215	T	0.0556828833515985	0.06471	T	0.889011	0.61998	D	0.3305879	0.55519	0.30209062	0.56241	0.3305879	0.55519	0.30209062	0.56240	-11.804	0.83883	D	.	.	0.282	0.51497	B	.;.;.;.	.;.;.;.	3.173236	0.43041	21.7	0.99424277596642729	0.63935	0.72408	0.35442	D	AEDBI	0.298969	0.40814	N	0.323836889841474	0.57374	3.904504	0.225831262289025	0.51286	3.312396	0.504164713094992	0.20967	0.706548	0.73137	0	0.724815	0.89359	0	0.658983	0.55881	0	0.567892	0.33627	0	.	.	5.87	0.919	0.18518	1.289000	0.32913	1.482000	0.26828	0.665000	0.62972	0.690000	0.28531	0.951000	0.29025	0.847000	0.40026	0.0:0.3758:0.0:0.6242	8.367	0.31555	770	0.49152	Sterile alpha motif domain|Sterile alpha motif domain|Sterile alpha motif domain|Liprin-beta, SAM domain repeat 1;Sterile alpha motif domain|Sterile alpha motif domain|Sterile alpha motif domain|Liprin-beta, SAM domain repeat 1;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.007560	0.000000	0.002717	0.008772	0.000000	0.008621	0.003049	0.034351	0.08333	641.83	33	chr11	7648505	.	T	A	641.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.723;DP=211;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.93;ReadPosRankSum=-0.456;SOR=0.609	GT:AD:DP:GQ:PL	0/1:18,25:43:99:652,0,513	5	0	1	0
chr11	7928005	7928005	G	A	exonic	OR10A6	.	stopgain	OR10A6:NM_001004461:exon1:c.C658T:p.R220X	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.255e-06	0	0	0	0	1.5e-05	0	0	1.29e-05	2	154602	rs267603211	4.994e-05	4.994e-05	5.718e-05	4.263e-05	8.964e-05	4.059e-05	3.734e-05	4.265e-05	3.837e-05	8.964e-05	2.24e-05	0	0	0	0	5.396e-05	0.0001	1.159e-05	3.945e-05	4.597e-05	3.856e-05	4.038e-05	0.0003	1.716e-05	1.13e-05	8.891e-05	5.395e-05	0	0	0.0003	0	0	0	0	1.47e-05	0.0005	0	.	.	.	.	.	.	.	.	.	.	.	.	0.287139	0.14836	N	0.503989	0.999978	0.53665	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.261863	0.79701	D	0.202017	0.83240	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.	.;.;.	8.081407	0.97159	37	0.91818852933635653	0.21127	0.02338	0.06684	N	AEFGBI	0.047871	0.08110	N	-0.220879592952697	0.32278	1.818621	-0.5762032245944	0.20113	1.082241	3.36458786771513E-4	0.06583	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	4.43	0.33	0.15169	-0.213000	0.09309	-1.581000	0.05125	-0.153000	0.12021	0.000000	0.06391	0.000000	0.08366	0.025000	0.12405	0.2689:0.0:0.3631:0.368	2.687	0.04793	862	0.33134	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	792.83	75	chr11	7928005	.	G	A	792.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.311;DP=391;ExcessHet=0;FS=3.505;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13;ReadPosRankSum=1.65;SOR=0.963	GT:AD:DP:GQ:PL	0/1:30,31:61:99:803,0,736	5	0	1	0
chr11	8621239	8621239	T	C	exonic	TRIM66	.	nonsynonymous SNV	TRIM66:NM_014818:exon15:c.A2810G:p.Q937R	.	423	1098	1	0	0	1	0.000455166	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.128	0.0279840144915	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.65419	D	0.181	0.29346	T	0.761	0.43566	P	0.332	0.42135	B	0.000132	0.49741	D	0.000000	0.963017	0.26042	N	2.47	0.71715	M	0.99	0.41750	T	-1.5	0.36980	N	0.165	0.19728	-1.0052	0.28397	T	0.106	0.38685	T	10	0.13149083	0.25026	T	0.027984	0.50729	D	0.128	0.35103	0.078	0.00601	0.597678041844	0.59447	0.4648957740633748	0.46408	.	.	0.525457262993	0.42395	T	0.005709	0.05159	T	-0.225475	0.17253	T	-0.561656	0.16222	T	0.921543419361115	0.58124	D	0.616838	0.23625	T	0.22723497	0.45420	0.15218635	0.35816	0.22723497	0.45420	0.15218635	0.35815	-3.897	0.22258	T	.	.	0.084	0.26762	B	.;.;.	.;.;.	3.567113	0.50221	22.9	0.9779040921773261	0.35995	0.86879	0.46259	D	AEFDBI	0.142844	0.26539	N	0.135467023779215	0.48123	3.028765	0.179644416757533	0.48733	3.085274	0.0174139578012526	0.12948	0.638212	0.43195	0	0.653731	0.59785	0	0.653264	0.51672	0	0.491896	0.07777	0	.	.	5.15	3.97	0.45241	0.492000	0.22144	3.580000	0.39154	0.654000	0.53741	0.100000	0.22794	1.000000	0.68203	0.784000	0.37066	0.0:0.0:0.1563:0.8437	10.92	0.46369	503	0.75780	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1086.83	36	chr11	8621239	.	T	C	1086.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.363;DP=279;ExcessHet=0;FS=0.79;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.94;ReadPosRankSum=-0.282;SOR=0.563	GT:AD:DP:GQ:PL	0/1:44,47:91:99:1097,0,1115	5	0	1	0
chr11	14968858	14968858	A	T	exonic	CALCA	.	nonsynonymous SNV	CALCA:NM_001033952:exon4:c.T367A:p.S123T,CALCA:NM_001741:exon4:c.T367A:p.S123T,CALCA:NM_001378949:exon5:c.T367A:p.S123T	.	416	1102	4	0	0	4	0.00181159	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.027	.	0.0036	0.00399361	0.0010	0.0084	0.0009	0	0	0.0003	0.0022	6.056e-05	0.0011643	180	154602	rs34414857	0.0005	0.0005	0.0005	0.0005	0.0105	0.0005	0.0005	0.0096	0.0093	0.0105	0.0008	0	0	0	0.0055	0.0002	0.0015	5.797e-05	0.0026	0.0026	0.0028	0.0024	0.0078	0.0024	0.0023	0.0071	0.0068	0.0078	0	0.0022	0	0	0	0.0102	0.0003	0.0033	0.0002	0.598	0.05668	T	0.216	0.26226	T	0.0	0.02946	B	0.001	0.04355	B	0.704043	0.10069	N	0.880307	1	0.08975	N	0	0.06538	N	2.97	0.09450	T	-0.27	0.11366	N	0.044	0.02179	-0.9405	0.42536	T	0.006	0.01944	T	10	0.004636109	0.00097	T	.	.	.	0.027	0.05988	.	.	0.0297737177859	0.01360	0.044982037475777094	0.04442	0.0231228169569	0.02342	0.244679197669	0.03228	T	0.248267	0.61804	T	-0.672689	0.00053	T	-0.733639	0.04165	T	0.00499389227834867	0.00054	T	0.361264	0.08331	T	0.037328105	0.04764	0.06076499	0.11626	0.037328105	0.04764	0.06076499	0.11626	-4.233	0.27226	T	.	.	0.072	0.04080	B	.;.	.;.	0.490042	0.08593	5.360	0.78112370442854595	0.12160	0.07454	0.13471	N	AEFBI	0.130234	0.24871	N	-1.29703603862192	0.03711	0.1662741	-1.3024213559813	0.04399	0.2074041	3.25495954472812E-4	0.06540	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.530356	0.10902	0	.	.	4.61	-1.12	0.09306	0.401000	0.20673	-0.391000	0.09475	-0.150000	0.12128	0.170000	0.23934	0.000000	0.08366	0.101000	0.18331	0.2112:0.3662:0.2709:0.1516	2.023	0.03299	683	0.59664	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.014099	0.010101	0.032609	0.005848	0.000000	0.008621	0.003049	0.000000	0.08333	1164.83	33	chr11	14968858	.	A	T	1164.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.726;DP=290;ExcessHet=0;FS=0.717;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.22;ReadPosRankSum=-0.946;SOR=0.83	GT:AD:DP:GQ:PL	0/1:61,53:114:99:1175,0,1491	5	0	1	0
chr11	14971189	14971189	C	G	exonic	CALCA	.	nonsynonymous SNV	CALCA:NM_001033952:exon2:c.G4C:p.G2R,CALCA:NM_001033953:exon2:c.G4C:p.G2R,CALCA:NM_001378950:exon2:c.G4C:p.G2R,CALCA:NM_001741:exon2:c.G4C:p.G2R,CALCA:NM_001378949:exon3:c.G4C:p.G2R	.	422	1093	6	1	0	8	0.00364631	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.169	.	0.0036	0.00399361	0.0010	0.0084	0.0010	0	0	0.0003	0.0022	6.056e-05	0.0011772	182	154602	rs34587547	0.0005	0.0005	0.0005	0.0005	0.0105	0.0005	0.0005	0.0096	0.0092	0.0105	0.0008	0	0	0	0.0059	0.0002	0.0015	5.798e-05	0.0026	0.0026	0.0028	0.0024	0.0078	0.0024	0.0023	0.0071	0.0069	0.0078	0	0.0023	0	0	0	0.0102	0.0004	0.0033	0.0002	0.027	0.46513	D	0.024	0.58089	D	0.734	0.90584	P	0.833	0.81110	P	0.000988	0.40743	D	0.244383	0.710594	0.81001	D	3.11	0.87757	M	1.85	0.24472	T	-3.93	0.73267	D	0.517	0.57177	-0.7281	0.59059	T	0.085	0.33128	T	10	0.012264252	0.00264	T	.	.	.	0.169	0.43123	.	.	0.439870908748	0.43606	0.0924000607798377	0.09172	0.177302637107	0.19951	0.464631319046	0.33944	T	0.294148	0.79757	T	-0.412528	0.01913	T	-0.359935	0.38061	T	0.0478688150115179	0.05121	T	0.706729	0.31713	T	0.08893046	0.20761	0.16220537	0.37691	0.08893046	0.20760	0.16220537	0.37690	-4.801	0.34603	T	.	.	0.271	0.59199	B	.;.;.;.	.;.;.;.	3.710907	0.52979	23.3	0.9991252069161134	0.98167	0.97191	0.73226	D	AEFDBI	0.535339	0.55400	D	0.490496471437307	0.66534	4.962524	0.413323662105587	0.62393	4.454051	0.999667844218576	0.41534	0.549168	0.22868	0	0.563428	0.19063	0	0.590023	0.30420	0	0.530356	0.10902	0	.	.	4.69	2.8	0.31881	2.509000	0.45120	1.058000	0.23696	-0.171000	0.11205	1.000000	0.71638	0.981000	0.30433	0.976000	0.56436	0.0:0.8316:0.0:0.1684	9.967	0.40905	683	0.59664	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.014127	0.005051	0.033967	0.005882	0.000000	0.008621	0.003067	0.000000	0.08333	503.83	39	chr11	14971189	.	C	G	503.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.772;DP=245;ExcessHet=0;FS=0.976;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=7.63;ReadPosRankSum=-0.413;SOR=0.552	GT:AD:DP:GQ:PL	0/1:42,24:66:99:514,0,1105	5	0	1	0
chr11	40116285	40116285	T	G	exonic	LRRC4C	.	nonsynonymous SNV	LRRC4C:NM_020929:exon5:c.A8C:p.N3T,LRRC4C:NM_001258419:exon7:c.A8C:p.N3T	.	428	1078	16	0	0	16	0.00736648	.	.	.	3212752	LRRC4C-related_disorder	.	no_assertion_criteria_provided	Likely_benign	.	.	.	.	.	.	.	.	0.195	0.0235054350127	0.0024	0.00199681	0.0026	0	0.0014	0	0.0003	0.0038	0.0035	0.0023	0.002652	410	154602	rs144974170	0.0034	0.0034	0.0034	0.0035	0.0071	0.0033	0.0033	0.0053	0.0047	0.0006	0.0018	0.0036	0	0.0004	0.0071	0.0038	0.0041	0.0025	0.0025	0.0025	0.0025	0.0025	0.0037	0.0023	0.0022	0.0033	0.0032	0.0007	0.0230	0.0026	0.0040	0	0.0002	0.0102	0.0037	0.0043	0.0025	0.0	0.91255	D	0.0	0.92824	D	0.947	0.53479	P	0.727	0.55167	P	0.000001	0.84330	D	0.053882	0.999953	0.52396	D	1.39	0.34934	L	0.42	0.56937	T	-0.09	0.89534	N	0.714	0.73015	-0.8007	0.55103	T	0.137	0.45394	T	10	0.008387715	0.00190	T	0.023505	0.46474	T	0.195	0.47612	.	.	0.293707238958	0.28979	0.581826371327186	0.58111	1.70255623673	0.90341	0.789652109146	0.80390	T	0.047222	0.27658	T	-0.319918	0.06905	T	-0.231913	0.51587	T	0.0550466619877694	0.06364	T	0.791221	0.43226	T	0.39905316	0.60666	0.41884845	0.65896	0.39905316	0.60667	0.41884845	0.65896	-2.874	0.08886	T	.	.	0.111	0.48715	B	.;.;.;.;.;.	.;.;.;.;.;.	4.519201	0.70844	25.6	0.99595501067307068	0.73866	0.98159	0.80110	D	AEFBI	0.935509	0.93047	D	0.571494797106875	0.71401	5.645158	0.639552788728443	0.77837	6.756512	0.991222192547175	0.32415	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.76	5.76	0.90726	7.674000	0.83146	7.936000	0.75280	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:0.0:1.0	15.243	0.73179	942	0.12992	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.004541	0.000000	0.001359	0.000000	0.000000	0.008621	0.012195	0.007576	0.08333	1031.83	38	chr11	40116285	.	T	G	1031.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.037;DP=272;ExcessHet=0;FS=8.087;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.33;ReadPosRankSum=-1.23;SOR=0.41	GT:AD:DP:GQ:PL	0/1:32,40:72:99:1042,0,823	5	0	1	0
chr11	47166366	47166366	C	T	exonic	ARFGAP2	.	nonsynonymous SNV	ARFGAP2:NM_001242832:exon14:c.G1363A:p.V455M,ARFGAP2:NM_032389:exon15:c.G1447A:p.V483M	.	420	1100	2	0	0	2	0.000908265	.	.	.	4045864	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.149	0.0145158435906	.	.	5.771e-05	0	8.637e-05	0	0	7.499e-05	0	6.078e-05	4.53e-05	7	154602	rs748232896	4.857e-05	4.857e-05	3.403e-05	6.325e-05	0.0019	3.926e-05	3.605e-05	0.0011	0.0008	0	6.708e-05	0	2.519e-05	0	0.0019	2.878e-05	9.934e-05	0.0002	3.941e-05	3.94e-05	2.568e-05	5.378e-05	0.0002	1.715e-05	1.129e-05	1.972e-05	1.124e-05	0	0	6.539e-05	0	0	0	0	5.878e-05	0	0.0002	0.064	0.36509	T	0.143	0.33219	T	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	0.999999	0.58761	D	1.98	0.53716	M	3.43	0.05440	T	-1.58	0.38151	N	0.739	0.78927	-1.1789	0.00386	T	0.086	0.33326	T	10	0.4970096	0.61325	T	0.014516	0.34691	T	0.149	0.39377	0.363	0.36874	0.407489863969	0.40359	0.4439498103081316	0.44312	0.800887620473	0.66244	0.747701883316	0.74107	T	0.022073	0.17078	T	-0.207445	0.19742	T	-0.243608	0.50445	T	0.151124179363251	0.17192	T	0.913309	0.70674	D	0.22099051	0.44667	0.17812112	0.40460	0.22099051	0.44667	0.17812112	0.40460	-5.305	0.39993	T	.	.	0.197	0.45458	B	.;.;.	.;.;.	4.121667	0.61610	24.4	0.99876278948045782	0.95328	0.96464	0.69269	D	AEFGBCI	0.630975	0.61212	D	0.635591707825521	0.75438	6.306083	0.655408912042853	0.79014	6.993738	0.999999996630405	0.74766	0.67177	0.52595	0	0.697927	0.68747	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.71	5.71	0.89031	5.830000	0.69016	7.701000	0.66289	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.978000	0.57271	0.0:1.0:0.0:0.0	19.877	0.96882	23	0.98420	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.001359	0.000000	0.000000	0.008621	0.000000	0.000000	0.08333	1778.83	34	chr11	47166366	.	C	T	1778.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.47;DP=308;ExcessHet=0;FS=1.388;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.58;ReadPosRankSum=1.37;SOR=0.547	GT:AD:DP:GQ:PL	0/1:63,68:131:99:1789,0,1455	5	0	1	0
chr11	47182475	47182475	C	T	exonic	PACSIN3	.	nonsynonymous SNV	PACSIN3:NM_001184974:exon4:c.G139A:p.A47T,PACSIN3:NM_001184975:exon4:c.G139A:p.A47T,PACSIN3:NM_016223:exon4:c.G139A:p.A47T	.	400	1121	1	0	0	1	0.000445831	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.563	0.0501272211188	0.0002	0.000199681	0.0011	0	0.0093	0	0	0.0003	0	0	0.0008667	134	154602	rs199499148	0.0003	0.0003	0.0003	0.0002	0.0071	0.0002	0.0002	0.0064	0.0062	0	0.0071	0	2.519e-05	2.094e-05	0.0003	4.317e-05	0.0001	5.797e-05	0.0002	0.0002	0.0002	0.0002	0.0017	0.0001	0.0001	0.0012	0.0010	4.812e-05	0	0.0017	0	0.0002	0	0	1.47e-05	0	0	0.001	0.78490	D	0.006	0.76473	D	1.0	0.90584	D	0.995	0.83170	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.845	0.82663	M	1.92	0.23082	T	-3.22	0.72471	D	0.934	0.93959	-0.6232	0.63856	T	0.206	0.56403	T	10	0.016210556	0.00341	T	0.050127	0.64108	D	0.563	0.82118	.	.	0.818875758993	0.81716	0.6838973200823298	0.68328	1.1876170878	0.80188	0.750113368034	0.74463	T	0.299852	0.67237	T	-0.0548886	0.43702	T	0.155629	0.80537	D	0.139587276474815	0.16240	T	0.995817	0.99030	D	0.8648212	0.88456	0.8267118	0.89971	0.8648212	0.88457	0.8267118	0.89972	-8.352	0.63445	D	.	.	0.650	0.72577	P	.;.;.;.;.;.;.	.;.;.;.;.;.;.	5.492840	0.91499	32	0.99924247143143952	0.98980	0.98483	0.83254	D	AEFDGBI	0.935564	0.93062	D	0.860035418151596	0.89671	10.06882	0.800122946946798	0.89801	10.12722	0.999999999999984	0.74766	0.712529	0.81865	0	0.610034	0.51514	0	0.635938	0.45252	0	0.714379	0.83352	0	.	.	5.01	5.01	0.66477	7.905000	0.86479	7.688000	0.65646	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.974000	0.55675	0.0:1.0:0.0:0.0	18.688	0.91530	27	0.98276	FCH domain|F-BAR domain|FCH domain;FCH domain|F-BAR domain|FCH domain;FCH domain|F-BAR domain|FCH domain;FCH domain|F-BAR domain|FCH domain;FCH domain|F-BAR domain|FCH domain;FCH domain|F-BAR domain;FCH domain|F-BAR domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1099.83	39	chr11	47182475	.	C	T	1099.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.011;DP=281;ExcessHet=0;FS=5.855;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.75;ReadPosRankSum=0.742;SOR=0.877	GT:AD:DP:GQ:PL	0/1:35,45:80:99:1110,0,849	5	0	1	0
chr11	56275910	56275910	C	A	exonic	OR5T1	.	nonsynonymous SNV	OR5T1:NM_001004745:exon3:c.C272A:p.P91Q	.	434	1087	1	0	0	1	0.00045977	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.220	0.00602690677601	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.368e-06	1.368e-06	1.361e-06	1.375e-06	0.0003	2.3e-07	9e-08	6.092e-05	2.521e-05	0	0	0	0	0	0.0003	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.998	0.73220	D	0.953	0.69275	D	0.000599	0.43095	D	0.000000	0.934833	0.37101	D	4.145	0.97549	H	.	.	.	.	.	.	.	.	-0.7776	0.56437	T	0.057	0.24018	T	10	0.84029627	0.83185	D	0.006027	0.15757	T	.	.	0.641	0.77795	.	.	0.5542886815895288	0.55355	.	.	0.259781748056	0.04865	T	0.262681	0.63428	T	0.0617457	0.59831	T	-0.149083	0.59324	T	0.999393343925476	0.97233	D	.	.	.	0.8147435	0.84868	0.76634616	0.86199	0.8147435	0.84869	0.76634616	0.86200	-9.955	0.73642	D	.	.	0.413	0.60852	A	.;.	.;.	3.483865	0.48668	22.7	0.98492011249101852	0.42108	0.98176	0.80261	D	AEFI	0.366358	0.45420	N	0.540290801837385	0.69492	5.36472	0.269186189837531	0.53749	3.54233	0.994847771427742	0.33827	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	3.59	3.59	0.40253	4.361000	0.59235	.	.	0.501000	0.22741	0.998000	0.41325	0.015000	0.20450	0.037000	0.13953	0.0:1.0:0.0:0.0	14.381	0.66474	190	0.92594	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	2039.83	33	chr11	56275910	.	C	A	2039.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.566;DP=365;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.57;ReadPosRankSum=1.44;SOR=0.659	GT:AD:DP:GQ:PL	0/1:104,89:193:99:2050,0,2768	5	0	1	0
chr11	56543052	56543052	A	G	exonic	OR5M11	.	nonsynonymous SNV	OR5M11:NM_001005245:exon1:c.T206C:p.V69A	.	426	1095	1	0	0	1	0.000456413	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.089	0.00259741582465	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.368e-06	1.368e-06	1.361e-06	1.375e-06	0.0003	2.3e-07	9e-08	6.092e-05	2.521e-05	0	0	0	0	0	0.0003	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.046	0.40573	D	0.062	0.45318	T	0.969	0.56768	D	0.86	0.61233	P	.	.	.	.	0.999909	0.19694	N	2.015	0.55033	M	4.04	0.03121	T	-3.03	0.62747	D	0.178	0.19190	-1.0430	0.16413	T	0.024	0.10058	T	9	0.23797432	0.40909	T	0.002597	0.05263	T	0.089	0.25827	0.351	0.34922	0.515490261806	0.51192	0.09366363581805302	0.09298	0.0261712101541	0.02673	0.362002849579	0.19678	T	0.009592	0.08721	T	-0.194107	0.21658	T	-0.516598	0.20640	T	0.564979732036591	0.35044	D	0.683432	0.29175	T	0.25053856	0.48056	0.3550056	0.61035	0.25053856	0.48056	0.3550056	0.61035	-5.674	0.43461	T	.	.	0.127	0.26978	B	.	.	3.214014	0.43764	21.8	0.99805817985349943	0.88995	0.24797	0.22504	N	AEFI	0.080227	0.16217	N	0.235296446265931	0.52915	3.462984	0.20279008460267	0.50001	3.196877	3.68792220008112E-4	0.06707	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.1	5.1	0.68917	1.414000	0.34344	.	.	0.591000	0.32079	0.001000	0.13787	0.306000	0.24247	0.007000	0.07825	1.0:0.0:0.0:0.0	13.984	0.63836	296	0.88164	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1704.83	97	chr11	56543052	.	A	G	1704.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.207;DP=396;ExcessHet=0;FS=5.077;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.35;ReadPosRankSum=-0.136;SOR=1.047	GT:AD:DP:GQ:PL	0/1:71,67:138:99:1715,0,1912	5	0	1	0
chr11	57660880	57660880	C	T	exonic	CLP1	.	nonsynonymous SNV	CLP1:NM_001142597:exon3:c.C530T:p.A177V,CLP1:NM_006831:exon3:c.C722T:p.A241V	Pontocerebellar hypoplasia, type 10, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	3829166	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.240	0.00694834014397	.	.	5.766e-05	0	0	0	0	1.499e-05	0	0.0004	5.17e-05	8	154602	rs543506228	1.437e-05	1.436e-05	6.806e-06	2.2e-05	0.0002	9.23e-06	7.84e-06	0.0001	0.0001	0	0	0	0	0	0	8.993e-07	1.656e-05	0.0002	1.314e-05	1.313e-05	2.57e-05	0	0.0002	2.18e-06	8.2e-07	.	.	0	0	0	0	0	0	0	1.47e-05	0	0.0002	0.52	0.07259	T	0.502	0.11115	T	0.346	0.38545	B	0.222	0.39216	B	0.000000	0.84330	D	0.000000	1	0.81001	D	0.805	0.20218	L	1.03	0.44856	T	-0.59	0.19297	N	0.765	0.78927	-1.0928	0.05082	T	0.087	0.33746	T	10	0.4670347	0.59633	T	0.006948	0.18402	T	0.240	0.54500	0.452	0.51448	0.653576734956	0.65069	0.5675665064535337	0.56684	0.639123629112	0.57594	0.810149729252	0.83515	D	0.008674	0.28044	T	-0.0821367	0.39368	T	-0.0554363	0.66649	D	0.199367237232446	0.20381	T	0.957071	0.86318	D	0.22324893	0.44942	0.3664387	0.61973	0.27066767	0.50138	0.31167674	0.57172	-7.492	0.65517	T	0.20585023698622448	0.27473	0.509	0.73297	A	.;.;.;.	.;.;.;.	3.205239	0.43602	21.8	0.98573877800365939	0.43141	0.99748	0.99172	D	AEFBI	0.845336	0.76226	D	0.229163131362397	0.52616	3.434753	0.410668007491799	0.62227	4.434813	0.999999999999352	0.74766	0.706548	0.73137	0	0.653731	0.59785	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.88	5.88	0.94564	7.713000	0.83653	7.636000	0.62963	0.597000	0.34315	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:1.0:0.0:0.0	19.857	0.96760	220	0.91454	Polyribonucleotide 5'-hydroxyl-kinase Clp1, P-loop domain;Polyribonucleotide 5'-hydroxyl-kinase Clp1, P-loop domain;Polyribonucleotide 5'-hydroxyl-kinase Clp1, P-loop domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1661.83	33	chr11	57660880	.	C	T	1661.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.362;DP=277;ExcessHet=0;FS=0.758;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=16.45;ReadPosRankSum=-1.027;SOR=0.815	GT:AD:DP:GQ:PL	0/1:42,59:101:99:1672,0,1137	5	0	1	0
chr11	58203379	58203379	G	A	exonic	OR1S2	.	nonsynonymous SNV	OR1S2:NM_001004459:exon1:c.C803T:p.T268I	.	429	1091	2	0	0	2	0.000915751	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025	0.000628804669975	.	0.00219649	0.0007	0.0022	0.0003	0.0039	0	0.0002	0	0.0004	0.000608	94	154602	rs78572631	0.0005	0.0006	0.0005	0.0005	0.0122	0.0005	0.0005	0.0113	0.0110	0.0022	0.0002	0.0021	0.0122	0	0.0019	6.836e-05	0.0005	0.0003	0.0012	0.0012	0.0011	0.0013	0.0047	0.0010	0.0010	0.0032	0.0028	0.0027	0	0.0003	0.0040	0.0047	0	0.0102	0.0002	0.0005	0.0010	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.004565	0.33608	N	0.133460	1	0.08975	N	-0.88	0.01436	N	8.85	0.00035	T	3.14	0.00122	N	0.067	0.03956	-0.9946	0.31405	T	0.000	0.00039	T	10	0.0044060946	0.00090	T	6.29E-4	0.00319	T	0.025	0.05312	.	.	0.139678290688	0.13603	0.04838762806958768	0.04781	0.00478119465073	0.00421	.	.	.	0.001479	0.00934	T	-0.670046	0.00055	T	-0.738302	0.03963	T	0.00132782427795191	0.00013	T	0.125887	0.00981	T	0.034222506	0.03798	0.050253224	0.07850	0.034222506	0.03797	0.050253224	0.07850	-2.266	0.04373	T	.	.	0.071	0.03849	B	.;.	.;.	0.173094	0.05618	2.070	0.050315689315548313	0.00007	0.00544	0.02501	N	AEFGI	0.021395	0.00948	N	-1.40768060960402	0.02570	0.114	-1.26643677829374	0.04892	0.2318583	1.67829090635976E-5	0.02871	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.75	2.4	0.28568	0.094000	0.14946	1.158000	0.24531	-0.050000	0.17177	0.000000	0.06391	0.000000	0.08366	0.117000	0.19042	0.8239:0.0:0.1761:0.0	7.508	0.26725	360	0.84920	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002518	0.000000	0.005435	0.002924	0.000000	0.000000	0.000000	0.000000	0.08333	2083.83	37	chr11	58203379	.	G	A	2083.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.695;DP=340;ExcessHet=0;FS=1.24;MLEAC=1;MLEAF=0.083;MQ=57.26;MQRankSum=-5.546;QD=13.19;ReadPosRankSum=-0.311;SOR=0.803	GT:AD:DP:GQ:PL	0/1:80,78:158:99:2094,0,2008	5	0	1	0
chr11	61487042	61487042	G	A	exonic	PPP1R32	.	nonsynonymous SNV	PPP1R32:NM_001170753:exon9:c.G869A:p.R290Q,PPP1R32:NM_145017:exon10:c.G929A:p.R310Q	.	418	1092	12	0	0	12	0.00546448	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.101	.	0.0034	0.0115815	0.0047	0.0093	0.0020	0.0046	0	0.0009	0.0055	0.0208	0.0044695	691	154602	rs116129637	0.0024	0.0024	0.0019	0.0029	0.0203	0.0023	0.0023	0.0195	0.0192	0.0101	0.0019	0.0002	0.0025	1.872e-05	0.0109	0.0008	0.0045	0.0203	0.0038	0.0038	0.0031	0.0045	0.0274	0.0035	0.0034	0.0236	0.0222	0.0082	0	0.0016	0	0.0041	0	0.0034	0.0008	0.0024	0.0274	0.16	0.32141	T	0.229	0.52389	T	1.0	0.90584	D	0.947	0.68407	D	0.007634	0.31286	N	0.214708	0.917462	0.27371	N	2.585	0.75554	M	0.82	0.48142	T	-2.3	0.58733	N	0.273	0.30914	-0.8856	0.49307	T	0.159	0.49262	T	10	0.0068198144	0.00155	T	.	.	.	0.101	0.28911	.	.	0.654521474474	0.65164	0.32949659460220065	0.32862	0.226280632967	0.25184	0.350288510323	0.17963	T	0.014635	0.12421	T	-0.529328	0.00387	T	-0.517524	0.20546	T	0.027860775352958	0.01668	T	0.860614	0.56831	D	0.08371939	0.19346	0.09112916	0.21408	0.08371939	0.19346	0.09112916	0.21407	-4.55	0.31538	T	.	.	0.099	0.17742	B	.;.;.;.	.;.;.;.	2.892894	0.38319	20.7	0.9989702944340898	0.96971	0.72623	0.35540	D	AEFDGBI	0.111904	0.22138	N	0.243717286688735	0.53329	3.50225	0.150087799238917	0.47147	2.949307	0.999742528050604	0.42466	0.615465	0.37627	0	0.633656	0.55848	0	0.608524	0.38960	0	0.567892	0.33627	0	.	.	4.69	2.79	0.31792	1.741000	0.37862	0.989000	0.23179	0.654000	0.53741	1.000000	0.71638	0.711000	0.26292	0.710000	0.34452	0.1809:0.0:0.8191:0.0	8.944	0.34905	712	0.56465	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.015106	0.015152	0.023098	0.014620	0.000000	0.000000	0.006098	0.003788	0.1667	4223.04	35	chr11	61487042	.	G	A	4223.04	.	AC=2;AF=0.167;AN=12;DP=315;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;QD=32.48;SOR=1.353	GT:AD:DP:GQ:PL	1/1:0,130:130:99:4243,390,0	5	1	0	0
chr11	61740527	61740527	G	C	exonic	DAGLA	.	nonsynonymous SNV	DAGLA:NM_006133:exon18:c.G1918C:p.V640L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.359	0.0303838687175	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.204	0.20078	T	0.084	0.41239	T	0.984	0.60733	D	0.956	0.69739	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.085	0.57729	M	1.75	0.26152	T	-1.66	0.39692	N	0.801	0.79696	-0.9294	0.44227	T	0.147	0.47183	T	10	0.85639554	0.84838	D	0.030384	0.52709	D	0.359	0.67962	0.717	0.85230	0.332276917938	0.32835	0.6045569509805981	0.60386	1.38609513779	0.84885	0.863340735435	0.91603	D	0.126602	0.45309	T	0.100887	0.64389	D	-0.0928586	0.63945	T	0.953071773052216	0.63941	D	0.949005	0.80370	D	0.34753636	0.56875	0.27692467	0.53642	0.34753636	0.56876	0.27692467	0.53641	-9.454	0.70572	D	.	.	0.932	0.85229	P	.	.	5.079334	0.84758	28.4	0.99721849654714378	0.82125	0.99768	0.99325	D	AEFBI	0.892349	0.82920	D	0.710803035018918	0.80340	7.272851	0.681479095580318	0.80974	7.419648	0.999999999989603	0.74766	0.651	0.46895	0	0.547309	0.14657	0	0.723109	0.80598	0	0.683762	0.67416	0	.	.	4.41	4.41	0.52588	9.852000	0.98385	11.590000	0.93399	0.662000	0.56354	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:1.0:0.0	17.371	0.87267	745	0.52414	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4167	836.45	77	chr11	61740527	.	G	C	836.45	.	AC=5;AF=0.417;AN=12;BaseQRankSum=-2.875;DP=464;ExcessHet=6.1542;FS=405.124;MLEAC=5;MLEAF=0.417;MQ=60;MQRankSum=0;QD=2.33;ReadPosRankSum=0.901;SOR=8.909	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:58,13:71:31:0|1:61740527_G_C:31,0,1571:61740527	1	0	5	0
chr11	61740531	61740531	T	C	exonic	DAGLA	.	nonsynonymous SNV	DAGLA:NM_006133:exon18:c.T1922C:p.I641T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.403	0.0197228382319	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	2.054e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.077	0.34095	T	0.015	0.61642	D	0.948	0.53620	P	0.588	0.50402	P	0.000000	0.84330	D	0.000000	1	0.81001	D	1.7	0.43825	L	1.82	0.25018	T	-2.3	0.51157	N	0.794	0.79022	-1.0707	0.09260	T	0.080	0.31675	T	10	0.8145296	0.80704	D	0.019723	0.42154	T	0.403	0.71636	0.74	0.87232	0.236619781664	0.23270	0.7000053541781993	0.69941	0.918852446908	0.71372	0.869591116905	0.92510	D	0.336126	0.70567	T	0.210662	0.74892	D	0.0648253	0.74565	D	0.952781975269318	0.63873	D	0.952105	0.81652	D	0.31849626	0.54512	0.2169086	0.46336	0.31849626	0.54512	0.2169086	0.46335	-9.563	0.71251	D	.	.	0.611	0.69337	P	.	.	4.584081	0.72443	25.8	0.99816410860115734	0.89973	0.98810	0.87149	D	AEFBI	0.685886	0.64774	D	0.421747977381816	0.62620	4.480836	0.433105891452527	0.63640	4.601745	0.999999987493739	0.74766	0.67177	0.52595	0	0.55458	0.17659	0	0.702456	0.68683	0	0.683762	0.67416	0	.	.	4.41	4.41	0.52588	6.166000	0.71739	6.033000	0.52942	0.651000	0.53179	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:0.0:1.0	13.945	0.63586	745	0.52414	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	2249.55	76	chr11	61740531	.	T	C	2249.55	.	AC=6;AF=0.5;AN=12;BaseQRankSum=-0.876;DP=490;ExcessHet=11.5949;FS=293.869;MLEAC=6;MLEAF=0.5;MQ=60;MQRankSum=0;QD=4.93;ReadPosRankSum=0.58;SOR=10.008	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:50,28:78:99:0|1:61740527_G_C:409,0,1372:61740527	0	0	6	0
chr11	62523343	62523343	A	G	exonic	AHNAK	.	nonsynonymous SNV	AHNAK:NM_001346445:exon5:c.T11074C:p.S3692P,AHNAK:NM_001346446:exon5:c.T11074C:p.S3692P,AHNAK:NM_001620:exon5:c.T11074C:p.S3692P	.	421	1100	1	0	0	1	0.000454339	.	.	.	3961296	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.185	0.0164100229253	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs757953310	8.898e-06	8.893e-06	4.086e-06	1.376e-05	0.0003	4.97e-06	3.83e-06	6.107e-05	2.527e-05	0	0	0	0	0	0.0003	7.196e-06	4.971e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.012	0.54683	D	0.021	0.58089	D	0.979	0.59044	D	0.839	0.60107	P	0.906810	0.08581	N	0.940197	1	0.08975	N	2.83	0.82355	M	4.56	0.01933	T	-2.51	0.54546	D	0.374	0.41557	-1.0280	0.21103	T	0.030	0.12892	T	10	0.27191812	0.44732	T	0.01641	0.37653	T	0.185	0.45933	0.134	0.03833	0.373897652646	0.36997	0.013129249173180205	0.01270	0.211705828522	0.23670	0.348933517933	0.17766	T	0.276943	0.64954	T	-0.103618	0.35826	T	-0.386617	0.34949	T	0.461362903906816	0.31215	T	0.667533	0.27667	T	0.2771566	0.50774	0.29142228	0.55167	0.2771566	0.50774	0.29142228	0.55166	-10.788	0.78482	D	.	.	0.304	0.53293	B	.	.	1.742658	0.22170	15.51	0.94360529945793536	0.24717	0.76688	0.37632	D	AEFBI	.	.	.	-7.52462584216462e-05	0.41853	2.510837	-0.219452678172296	0.30838	1.739877	0.328903048248652	0.19464	0.706298	0.61202	0	0.709663	0.81188	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	5.32	2.89	0.32713	1.395000	0.34129	.	.	0.677000	0.82338	0.885000	0.31090	0.000000	0.08366	0.123000	0.19290	0.5825:0.2821:0.0:0.1354	7.366	0.25948	235	0.90838	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1667	3843.04	33	chr11	62523343	.	A	G	3843.04	.	AC=2;AF=0.167;AN=12;DP=300;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;QD=33.71;SOR=0.881	GT:AD:DP:GQ:PL	1/1:0,114:114:99:3863,342,0	5	1	0	0
chr11	66557741	66557741	C	T	exonic	ACTN3	.	nonsynonymous SNV	ACTN3:NM_001104:exon10:c.C940T:p.R314C,ACTN3:NM_001258371:exon10:c.C1069T:p.R357C	.	61	1446	14	1	0	16	0.00550206	.	.	.	2813380	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	.	.	0.0002	0.00179712	0.0017	0.0001	0.0002	0	0	0.0002	0.0039	0.0114	0.001326	205	154602	rs200574979	0.0007	0.0007	0.0004	0.0010	0.0099	0.0007	0.0006	0.0093	0.0091	0.0002	6.721e-05	0	2.521e-05	0	0.0033	8.995e-05	0.0007	0.0099	0.0004	0.0004	0.0003	0.0005	0.0100	0.0004	0.0003	0.0077	0.0069	0.0002	0	0	0	0	0	0.0034	0.0001	0	0.0100	.	.	.	0.002	0.83351	D	1.0	0.90584	D	0.999	0.92359	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.89	0.88909	.	.	.	.	.	.	.	0.024686664	0.00688	T	.	.	.	.	.	.	.	0.643721901085	0.64077	0.6907061601940923	0.69010	.	.	0.655592679977	0.60780	T	0.510415	0.82680	D	0.0220035	0.54652	T	0.265511	0.86352	D	.	.	.	0.99685	0.98806	D	0.16444573	0.36653	0.24900775	0.50463	0.16444573	0.36653	0.24900775	0.50462	-9.76	0.72462	D	.	.	0.285	0.60378	B	.;.	.;.	4.754785	0.76815	26.6	0.99939431137062129	0.99734	0.93766	0.59130	D	AEFDGBI	0.781326	0.71294	D	.	.	.	.	.	.	0.981173956377792	0.30228	0.295142	0.05270	0	0.097471	0.02872	0	0.343423	0.05949	0	0.109499	0.03221	0	.	.	4.53	4.53	0.55009	3.287000	0.51438	4.932000	0.46138	0.596000	0.33519	1.000000	0.71638	1.000000	0.68203	0.986000	0.61781	0.2028:0.7971:0.0:0.0	9.930	0.40686	59	0.97452	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.003067	0.003788	0.1667	3856.04	33	chr11	66557741	.	C	T	3856.04	.	AC=2;AF=0.167;AN=12;DP=287;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;QD=33.82;SOR=1.149	GT:AD:DP:GQ:PL	1/1:0,114:114:99:3876,342,0	5	1	0	0
chr11	70473434	70473434	G	A	exonic	SHANK2	.	nonsynonymous SNV	SHANK2:NM_133266:exon11:c.C3221T:p.P1074L,SHANK2:NM_001379226:exon16:c.C3848T:p.P1283L,SHANK2:NM_012309:exon26:c.C4985T:p.P1662L	.	.	.	.	.	.	.	.	.	.	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	0.088	0.0026844951943	.	.	8.408e-06	0	0	0	0	1.529e-05	0	0	1.94e-05	3	154602	rs782778740	6.618e-05	6.635e-05	7e-05	6.233e-05	8.544e-05	5.538e-05	5.147e-05	7.136e-05	6.627e-05	0	0	0	0	0	0	8.544e-05	1.658e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.398	0.10553	T	0.427	0.21812	T	0.003	0.11197	B	0.003	0.08700	B	0.254952	0.03671	N	1.434720	0.997879	0.44275	D	.	.	.	2.37	0.15964	T	-0.62	0.18248	N	0.083	0.18784	-1.0261	0.21723	T	0.085	0.33157	T	10	0.091744035	0.16097	T	0.002684	0.05492	T	0.088	0.25558	.	.	0.102598925029	0.09809	0.27047011254488085	0.26960	0.469444348437	0.46252	0.367657244205	0.20495	T	0.021707	0.16859	T	-0.277295	0.10956	T	-0.526033	0.19685	T	0.291696697473526	0.24660	T	0.856614	0.54540	D	.	.	.	.	.	.	.	.	-5.006	0.36905	T	.	.	0.101	0.17573	B	.;.;.;.;.	.;.;.;.;.	3.693572	0.52643	23.3	0.9471031884644675	0.25372	0.88329	0.48207	D	AEFBI	0.511545	0.54013	D	-0.347181007665733	0.27376	1.50148	-0.118058145834324	0.34663	1.996396	0.999838859815929	0.43792	0.706298	0.61202	0	0.547309	0.14657	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	5.91	5.0	0.66209	3.359000	0.52012	8.538000	0.77482	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.968000	0.53726	0.0683:0.0:0.9317:0.0	14.889	0.70237	934	0.15400	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1667	1662.04	34	chr11	70473434	.	G	A	1662.04	.	AC=2;AF=0.167;AN=12;DP=224;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;QD=31.96;SOR=1.244	GT:AD:DP:GQ:PL	1/1:0,52:52:99:1682,156,0	5	1	0	0
chr11	71582755	71582755	C	G	exonic	KRTAP5-11	.	nonsynonymous SNV	KRTAP5-11:NM_001005405:exon1:c.G83C:p.C28S	.	435	1026	56	4	1	65	0.0302457	.	.	.	2343367	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.046	0.00192359318922	0.0003	.	0.0002	0.0001	0	0	0	0.0003	0	0.0002	0.0001552	24	154602	rs202232812	0.0006	0.0006	0.0006	0.0006	0.0007	0.0005	0.0005	0.0006	0.0006	0.0001	0.0002	4.105e-05	0	0.0001	0.0002	0.0007	0.0005	0.0003	0.0003	0.0003	0.0004	0.0003	0.0005	0.0003	0.0002	0.0004	0.0003	0.0003	0	0	0	0	0.0001	0	0.0005	0.0005	0.0002	0.0	0.91255	D	0.055	0.48336	T	0.994	0.66517	D	0.908	0.64494	P	.	.	.	.	0.813758	0.28968	N	1.925	0.51371	L	5.32	0.01079	T	-4.87	0.81269	D	0.311	0.35088	-0.9809	0.34794	T	0.010	0.03719	T	9	0.14116338	0.26825	T	0.001924	0.03404	T	0.046	0.12618	0.269	0.21735	0.198526703765	0.19489	0.02493473011650598	0.02444	0.010741408872	0.00990	.	.	.	0.090791	0.38659	T	-0.444937	0.01210	T	-0.502253	0.22114	T	0.0889019672450013	0.11086	T	0.20198	0.02320	T	0.5776709	0.71481	0.5980566	0.76657	0.5776709	0.71482	0.5980566	0.76658	-4.094	0.25201	T	.	.	0.168	0.36889	B	.;.	.;.	0.880672	0.12539	9.068	0.86472147901816454	0.16558	0.35003	0.25200	N	AEFBI	0.151868	0.27644	N	0.154567787353232	0.49028	3.107897	0.0339024856290828	0.41301	2.478991	0.158577456638518	0.17556	0.497415	0.19182	0	0.59043	0.45803	0	0.578056	0.29568	0	0.562822	0.20929	0	.	.	2.07	2.07	0.26004	-0.245000	0.08908	.	.	0.261000	0.18407	0.000000	0.06391	0.985000	0.30750	0.060000	0.15972	0.0:1.0:0.0:0.0	9.809	0.39978	454	0.79125	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1667	2432.45	38	chr11	71582755	.	C	G	2432.45	.	AC=2;AF=0.167;AN=12;DP=709;ExcessHet=0.7136;FS=4.23;MLEAC=2;MLEAF=0.167;MQ=59.82;QD=5.95;SOR=0.463	GT:AD:DP:GQ:PL	1/1:0,80:80:99:2451,251,0	5	1	0	0
chr11	73968409	73968409	G	A	exonic	DNAJB13	.	nonsynonymous SNV	DNAJB13:NM_153614:exon6:c.G671A:p.R224H,DNAJB13:NM_001377263:exon7:c.G497A:p.R166H	Ciliary dyskinesia, primary, 34, Autosomal recessive	427	1092	3	0	0	3	0.00137174	.	.	.	713160	not_provided|Cough	MedGen:C3661900|Human_Phenotype_Ontology:HP:0012735,MedGen:C0010200	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.204	0.0789219970916	0.0038	0.000599042	0.0032	0.0011	0.0026	0	0.0014	0.0050	0.0022	0.0004	0.0035122	543	154602	rs147921001	0.0049	0.0049	0.0050	0.0047	0.0059	0.0048	0.0047	0.0057	0.0057	0.0010	0.0028	0.0001	2.519e-05	0.0021	0.0021	0.0059	0.0047	0.0003	0.0035	0.0035	0.0038	0.0033	0.0060	0.0033	0.0032	0.0055	0.0053	0.0012	0.0022	0.0026	0	0	0.0027	0.0034	0.0060	0.0043	0.0002	0.034	0.44029	D	0.009	0.66756	D	0.563	0.38396	P	0.081	0.28987	B	0.004046	0.34172	N	0.325774	0.864898	0.29192	N	2.32	0.66415	M	0.83	0.47815	T	-2.71	0.57762	D	0.387	0.42834	-0.7892	0.55776	T	0.088	0.34133	T	10	0.026716858	0.00832	T	0.078922	0.73116	D	0.204	0.49076	.	.	0.588082203375	0.58483	0.3847448005600294	0.38389	0.310688442189	0.33380	0.465925395489	0.34122	T	0.073734	0.34768	T	-0.435007	0.01384	T	-0.393489	0.34142	T	0.025827139741923	0.01382	T	0.921208	0.72041	D	0.116691545	0.27520	0.08889295	0.20755	0.11710543	0.27613	0.08738388	0.20307	-7.448	0.57243	T	0.18673874751455136	0.24320	0.096	0.27553	B	.;.;.	.;.;.	4.113361	0.61430	24.3	0.99858134068463411	0.93639	0.54273	0.29575	D	AEFDBCI	0.245647	0.36654	N	0.2118729314998	0.51773	3.356081	0.294554538480526	0.55220	3.68534	0.99978028436012	0.43007	0.660377	0.49826	0	0.694456	0.67091	0	0.536957	0.11973	0	0.613276	0.41899	0	.	.	5.23	5.23	0.72570	1.918000	0.39636	9.811000	0.81748	0.648000	0.52827	1.000000	0.71638	1.000000	0.68203	0.959000	0.51448	0.1695:0.0:0.8305:0.0	8.210	0.30638	262	0.89730	Chaperone DnaJ, C-terminal;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002518	0.020202	0.002717	0.002924	0.000000	0.000000	0.000000	0.003788	0.1667	5946.04	35	chr11	73968409	.	G	A	5946.04	.	AC=2;AF=0.167;AN=12;DP=371;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;QD=31.97;SOR=1.038	GT:AD:DP:GQ:PL	1/1:0,186:186:99:5966,558,0	5	1	0	0
chr11	74057414	74057414	C	A	exonic	C2CD3	.	nonsynonymous SNV	C2CD3:NM_001286577:exon25:c.G5082T:p.Q1694H,C2CD3:NM_015531:exon25:c.G5082T:p.Q1694H	.	433	1084	5	0	0	5	0.00230097	.	.	.	713165	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.087	0.00600807042247	0.0042	0.000798722	0.0032	0.0010	0.0027	0	0.0014	0.0049	0.0022	0.0003	0.0033829	523	154602	rs142214951	0.0051	0.0051	0.0052	0.0050	0.0061	0.0050	0.0050	0.0060	0.0060	0.0009	0.0034	0.0001	2.519e-05	0.0023	0.0023	0.0061	0.0049	0.0003	0.0037	0.0037	0.0039	0.0035	0.0064	0.0035	0.0034	0.0059	0.0057	0.0013	0.0022	0.0027	0	0	0.0028	0	0.0064	0.0057	0.0002	0.273	0.17881	T	0.443	0.26386	T	0.001	0.07471	B	0.004	0.10090	B	0.000013	0.62929	N	0.120255	0.603407	0.32558	D	0.92	0.23413	L	1.0	0.41392	T	-0.75	0.27463	N	0.292	0.33578	-1.0391	0.17587	T	0.047	0.19998	T	10	0.0043418407	0.00088	T	0.006008	0.15698	T	0.087	0.25287	0.345	0.33950	0.165133752707	0.16062	0.41408200645514487	0.41324	0.0931662067262	0.10528	0.495082676411	0.38143	T	0.107833	0.42037	T	-0.525843	0.00406	T	-0.523969	0.19894	T	0.00221659369988044	0.00023	T	0.732227	0.36599	T	0.06873279	0.14997	0.050011054	0.07760	0.09343637	0.21945	0.043951396	0.05585	-6.887	0.55237	T	0.39549794396042	0.48808	0.166	0.36653	B	.;.;.	.;.;.	1.588183	0.20318	14.69	0.91898239881090904	0.21218	0.45061	0.27455	N	AEFDGBHCI	0.210886	0.33673	N	-0.562385963830552	0.20096	1.056949	-0.4155327824535	0.24542	1.344445	0.999999999897464	0.74766	0.740787	0.97801	0	0.653731	0.59785	0	0.709663	0.75317	0	0.673998	0.66042	0	.	.	5.13	2.15	0.26590	-0.279000	0.08512	-0.442000	0.09154	-0.228000	0.07776	0.644000	0.28119	0.051000	0.21832	0.980000	0.58198	0.0:0.5956:0.2566:0.1478	7.471	0.26519	319	0.87030	C2 domain|C2 domain;.;C2 domain|C2 domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.003021	0.025253	0.002717	0.005848	0.000000	0.000000	0.000000	0.003788	0.1667	3223.04	36	chr11	74057414	.	C	A	3223.04	.	AC=2;AF=0.167;AN=12;DP=281;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;QD=28.78;SOR=0.844	GT:AD:DP:GQ:PL	1/1:0,112:112:99:3243,336,0	5	1	0	0
chr11	85718996	85718996	T	-	exonic	SYTL2	.	frameshift deletion	SYTL2:NM_001365835:exon1:c.44delA:p.K15Rfs*6	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	39.8	18	chr11	85718995	.	CT	C	39.8	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.981;DP=72;ExcessHet=0;FS=5.441;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=5.69;ReadPosRankSum=-1.309;SOR=0.027	GT:AD:DP:GQ:PL	0/1:5,2:7:50:50,0,157	5	0	1	0
chr11	87067703	87067703	A	T	exonic	TMEM135	.	nonsynonymous SNV	TMEM135:NM_001168724:exon2:c.A151T:p.I51F,TMEM135:NM_022918:exon2:c.A151T:p.I51F	.	1	1520	0	1	0	2	0.000657462	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.236	0.031776308826	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.076	0.63226	T	0.017	0.79402	D	0.573	0.38659	P	0.143	0.37000	B	0.000310	0.45977	D	0.189836	0.999062	0.81001	D	2.295	0.65404	M	0.81	0.50459	T	-2.15	0.49187	N	0.817	0.81261	-0.9860	0.33590	T	0.145	0.46932	T	9	0.19759062	0.35696	T	0.031776	0.53776	D	0.236	0.53931	0.522	0.62518	0.293707238958	0.28979	0.8557356895610023	0.85536	0.684027731874	0.60199	0.567782044411	0.48364	T	0.108355	0.42132	T	0.053006	0.58730	T	-0.161637	0.58204	T	0.679380774497986	0.39760	D	0.818018	0.47523	T	0.20769368	0.42983	0.27266556	0.53179	0.20769368	0.42983	0.27266556	0.53178	-5.083	0.39884	T	.	.	0.174	0.40360	B	.;.;.;.	.;.;.;.	3.080621	0.41440	21.4	0.85813182023116685	0.16129	0.85533	0.44675	D	AEFBI	0.290775	0.40207	N	-0.253518188641935	0.30963	1.731535	-0.273926097087287	0.28961	1.618802	1.00536927717452E-4	0.04910	0.706298	0.61202	0	0.659464	0.62310	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	5.29	1.69	0.23290	3.734000	0.54760	3.075000	0.36216	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.6937:0.1476:0.1587:0.0	5.458	0.15896	835	0.38313	.;Transmembrane protein 135, N-terminal domain;Transmembrane protein 135, N-terminal domain;Transmembrane protein 135, N-terminal domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	792.83	35	chr11	87067703	.	A	T	792.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.554;DP=239;ExcessHet=0;FS=0.925;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.33;ReadPosRankSum=-1.123;SOR=0.56	GT:AD:DP:GQ:PL	0/1:34,36:70:99:803,0,879	5	0	1	0
chr11	106010659	106010659	C	T	exonic	MSANTD4	.	nonsynonymous SNV	MSANTD4:NM_001318747:exon2:c.G259A:p.A87T,MSANTD4:NM_001318748:exon2:c.G259A:p.A87T,MSANTD4:NM_001318749:exon2:c.G259A:p.A87T,MSANTD4:NM_001318750:exon2:c.G259A:p.A87T,MSANTD4:NM_032424:exon2:c.G259A:p.A87T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.144	0.0031863420769	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.284	0.25457	T	0.456	0.54934	T	0.002	0.09854	B	0.003	0.08700	B	0.000011	0.62929	D	0.111292	0.991109	0.41309	D	0.55	0.14455	N	.	.	.	-1.05	0.27463	N	0.139	0.13769	-0.8825	0.49561	T	0.177	0.52240	T	9	0.14178061	0.26937	T	0.003186	0.06966	T	0.144	0.38394	0.324	0.30549	0.333651784274	0.32972	0.3745214875372276	0.37366	0.306637953789	0.32968	0.538885176182	0.44288	T	0.040073	0.25406	T	-0.0969372	0.36933	T	-0.37702	0.36071	T	0.432566970586777	0.30156	T	0.762724	0.38847	T	0.054357305	0.10418	0.07319845	0.15878	0.054357305	0.10417	0.07319845	0.15878	-3.821	0.21119	T	.	.	0.078	0.06663	B	.;.;.	.;.;.	3.124977	0.42209	21.5	0.99583064835214086	0.73099	0.90270	0.51314	D	AEFGBI	0.218300	0.34332	N	-0.0132163549372124	0.41258	2.464544	0.177121742542613	0.48595	3.073425	0.999902434550218	0.45458	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.88	5.88	0.94564	1.369000	0.33832	4.008000	0.41136	-0.176000	0.10722	1.000000	0.71638	1.000000	0.68203	0.977000	0.56843	0.145:0.7831:0.0:0.0719	9.319	0.37114	725	0.54935	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3	446.8	129	chr11	106010659	.	C	T	446.8	.	AC=3;AF=0.3;AN=10;BaseQRankSum=-4.161;DP=813;ExcessHet=1.383;FS=238.988;MLEAC=3;MLEAF=0.3;MQ=60;MQRankSum=0;QD=1.29;ReadPosRankSum=1.99;SOR=9.811	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:90,21:125:99:.:.:205,0,2584:.	2	0	3	1
chr11	106010660	106010660	C	G	exonic	MSANTD4	.	nonsynonymous SNV	MSANTD4:NM_001318747:exon2:c.G258C:p.K86N,MSANTD4:NM_001318748:exon2:c.G258C:p.K86N,MSANTD4:NM_001318749:exon2:c.G258C:p.K86N,MSANTD4:NM_001318750:exon2:c.G258C:p.K86N,MSANTD4:NM_032424:exon2:c.G258C:p.K86N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.035	0.00140864098182	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.794e-06	5.338e-05	6.814e-06	2.753e-06	1.16e-05	1.99e-06	1.28e-06	1.32e-06	9.6e-07	0	0	0	0	0	0	4.502e-06	1.657e-05	1.16e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.628	0.09572	T	0.455	0.12776	T	0.001	0.07471	B	0.002	0.06944	B	0.000777	0.41888	D	0.252245	0.672182	0.30354	N	1.1	0.28011	L	.	.	.	-0.42	0.25986	N	0.046	0.01825	-1.0800	0.07349	T	0.039	0.16935	T	9	0.07250753	0.10832	T	0.001409	0.02088	T	0.035	0.08770	0.333	0.32005	0.180583059064	0.17676	0.42697714804244885	0.42614	0.368530488454	0.38403	0.557739257812	0.46948	T	0.028728	0.20742	T	-0.209044	0.19513	T	-0.538054	0.18489	T	0.29334169626236	0.24729	T	0.788921	0.43637	T	0.06988713	0.15349	0.040901218	0.04526	0.06988713	0.15349	0.040901218	0.04526	-4.897	0.35701	T	.	.	0.261	0.51359	B	.;.;.	.;.;.	2.485158	0.32052	18.93	0.96605095872499003	0.30423	0.93307	0.57867	D	AEFGBI	0.282833	0.39607	N	-0.459278369652404	0.23427	1.257956	-0.24408778769958	0.29975	1.683831	0.956715357216671	0.28262	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.88	3.03	0.34070	0.769000	0.26267	2.724000	0.34335	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.986000	0.61781	0.2344:0.4203:0.1184:0.227	1.144	0.01662	725	0.54935	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4	756.44	129	chr11	106010660	.	C	G	756.44	.	AC=4;AF=0.4;AN=10;BaseQRankSum=-3.078;DP=816;ExcessHet=3.1439;FS=243.716;MLEAC=4;MLEAF=0.4;MQ=60;MQRankSum=0;QD=1.42;ReadPosRankSum=1.98;SOR=9.869	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:90,37:127:99:.:.:349,0,2574:.	1	0	4	1
chr11	111753508	111753510	TAG	-	exonic	PPP2R1B	.	nonframeshift deletion	PPP2R1B:NM_001177563:exon7:c.716_718del:p.T239del,PPP2R1B:NM_181700:exon7:c.905_907del:p.T302del,PPP2R1B:NM_002716:exon9:c.1097_1099del:p.T366del,PPP2R1B:NM_181699:exon9:c.1097_1099del:p.T366del	Lung cancer, Autosomal recessive	0	1520	2	0	0	2	0.000657462	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	.	8.246e-06	0	0	0	0	1.5e-05	0	0	6.5e-06	1	154602	rs782415132	2.806e-05	2.805e-05	2.316e-05	3.302e-05	0.0014	2.088e-05	1.879e-05	0.0007	0.0005	5.977e-05	0	0	0	0	0.0014	2.7e-05	1.657e-05	0	1.314e-05	1.313e-05	1.284e-05	1.344e-05	2.94e-05	2.18e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.94e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001007	0.000000	0.001359	0.002924	0.000000	0.000000	0.000000	0.000000	0.1667	3440.01	33	chr11	111753507	.	ATAG	A	3440.01	.	AC=2;AF=0.167;AN=12;DP=245;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;QD=28.94;SOR=0.719	GT:AD:DP:GQ:PL	1/1:0,77:77:99:3460,232,0	5	1	0	0
chr11	113231236	113231236	G	A	exonic	NCAM1	.	nonsynonymous SNV	NCAM1:NM_001242607:exon10:c.G1130A:p.G377E	.	412	1087	23	0	0	23	0.0104688	.	.	.	2809854	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	.	.	.	0.00219649	0.0052	0.0018	0	0	0	0.0143	0.0152	0.0012	0.0014748	228	154602	rs117219783	0.0071	0.0067	0.0071	0.0071	0.0151	0.0070	0.0069	0.0125	0.0116	0.0011	0.0027	0.0191	0	0.0022	0.0151	0.0079	0.0070	0.0018	0.0052	0.0052	0.0059	0.0045	0.0085	0.0049	0.0048	0.0079	0.0077	0.0014	0	0.0027	0.0228	0	0.0018	0.0170	0.0085	0.0052	0.0010	.	.	.	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.222	0.27554	.	.	.	.	.	.	.	0.0048000515	0.00102	T	.	.	.	.	.	.	.	0.72745045299	0.72503	0.22365881347720465	0.22280	.	.	0.300282180309	0.10442	T	0.249375	0.61932	T	-0.414135	0.01866	T	-0.36083	0.37956	T	.	.	.	0.443356	0.12326	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.119	0.24532	B	.;.	.;.	1.011621	0.13907	10.47	0.30373334228533333	0.01658	0.07756	0.13755	N	AEFBI	.	.	.	.	.	.	.	.	.	0.90115533656069	0.26094	0.053691	0.00478	0	0.063388	0.01293	0	0.060301	0.00762	0	0.057018	0.00518	0	0.0841549	0.19180	4.73	2.71	0.31092	2.415000	0.44289	2.579000	0.33405	0.676000	0.76740	0.042000	0.21073	0.089000	0.22506	0.004000	0.06068	0.1047:0.0:0.6904:0.205	5.143	0.14300	645	0.63593	Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.012632	0.017045	0.016667	0.016854	0.142857	0.000000	0.015464	0.000000	0.1667	1539.04	33	chr11	113231236	.	G	A	1539.04	.	AC=2;AF=0.167;AN=12;DP=227;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;QD=28.5;SOR=0.693	GT:AD:DP:GQ:PL	1/1:0,54:54:99:1559,162,0	5	1	0	0
chr11	114698148	114698148	A	G	exonic	NXPE2	.	nonsynonymous SNV	NXPE2:NM_182495:exon3:c.A236G:p.E79G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.082	0.0140472487288	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.841e-07	6.84e-07	0	1.375e-06	.	0	0	.	.	0	0	0	0	0	0	0	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.004	0.74150	D	0.716	0.42206	P	0.367	0.43430	B	0.005186	0.33015	N	0.134755	1	0.08975	N	2.82	0.82106	M	2.56	0.13673	T	-5.29	0.84315	D	0.237	0.26717	-1.0578	0.12311	T	0.057	0.23791	T	10	0.26305705	0.43780	T	0.014047	0.33902	T	0.082	0.23913	0.208	0.12497	0.0482279557977	0.04254	0.37339098200503124	0.37253	0.0192901592951	0.01888	0.311254531145	0.12096	T	0.128604	0.45636	T	-0.196446	0.21319	T	-0.519957	0.20298	T	0.968924224376678	0.68410	D	0.714029	0.32612	T	0.25727212	0.48770	0.33392736	0.59224	0.25727212	0.48770	0.33392736	0.59223	-8.885	0.66953	D	.	.	0.082	0.08754	B	.	.	3.044350	0.40826	21.2	0.99863992268373059	0.94184	0.80620	0.40210	D	AEFGI	0.463787	0.51256	N	0.0191226744751941	0.42725	2.579726	-0.0169127627842439	0.38951	2.302262	0.0078689352989266	0.11561	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.54	4.54	0.55220	3.596000	0.53770	6.114000	0.53700	0.691000	0.84096	0.970000	0.34288	0.860000	0.27479	0.047000	0.14932	1.0:0.0:0.0:0.0	11.862	0.51749	895	0.25842	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1667	3919.04	33	chr11	114698148	.	A	G	3919.04	.	AC=2;AF=0.167;AN=12;DP=292;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;QD=32.39;SOR=0.888	GT:AD:DP:GQ:PL	1/1:0,121:121:99:3939,363,0	5	1	0	0
chr11	118532154	118532154	G	C	exonic	TMEM25	.	nonsynonymous SNV	TMEM25:NM_001144034:exon3:c.G75C:p.W25C,TMEM25:NM_001144035:exon3:c.G75C:p.W25C,TMEM25:NM_001144037:exon3:c.G75C:p.W25C,TMEM25:NM_001144038:exon3:c.G75C:p.W25C,TMEM25:NM_001318755:exon3:c.G75C:p.W25C,TMEM25:NM_001318757:exon3:c.G75C:p.W25C,TMEM25:NM_032780:exon3:c.G75C:p.W25C	.	422	1078	22	0	0	22	0.010101	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.079	.	0.0092	0.00698882	0.0169	0.0281	0.0113	0.0003	0.0053	0.0198	0.0286	0.0084	0.0075484	1167	154602	rs35915434	0.0081	0.0081	0.0081	0.0081	0.0194	0.0080	0.0079	0.0165	0.0153	0.0160	0.0056	0.0157	5.118e-05	0.0036	0.0194	0.0085	0.0075	0.0041	0.0095	0.0095	0.0102	0.0087	0.0146	0.0091	0.0089	0.0136	0.0132	0.0146	0.0493	0.0062	0.0164	0	0.0024	0.0442	0.0085	0.0047	0.0031	0.021	0.53172	D	0.04	0.65728	D	0.0	0.65571	B	0.0	0.51908	B	0.001093	0.40303	N	0.176289	0.997138	0.81001	D	1.87	0.49600	L	2.3	0.30133	T	-2.12	0.91395	N	0.334	0.38848	-1.1085	0.03201	T	0.043	0.18326	T	10	0.006802678	0.00155	T	.	.	.	0.079	0.23065	0.252	0.19067	0.0986583533028	0.09354	0.6947654204807727	0.69417	0.22818053352	0.25372	0.571099042892	0.48834	T	0.078915	0.36005	T	-0.451457	0.01108	T	-0.40829	0.32422	T	0.00937457569547086	0.00120	T	0.765923	0.39354	T	0.2311183	0.45878	0.16963321	0.39011	0.2311183	0.45878	0.16963321	0.39010	-2.912	0.09559	T	.	.	0.277	0.55487	B	.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.	1.764781	0.22442	15.62	0.98477695238953178	0.41931	0.85246	0.44362	D	AEFDBI	0.251787	0.37159	N	-0.39224383228242	0.25744	1.399828	-0.315853451040397	0.27586	1.532	0.999955652262329	0.48110	0.72623	0.87236	0	0.627608	0.54475	0	0.594344	0.31042	0	0.669	0.65921	0	.	.	5.19	1.07	0.19399	0.929000	0.28445	1.009000	0.23318	-0.110000	0.15115	0.983000	0.35670	1.000000	0.68203	0.995000	0.73285	0.0828:0.0:0.4638:0.4534	6.757	0.22705	321	0.86949	.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.014646	0.015306	0.019074	0.017544	0.000000	0.008621	0.015337	0.003788	0.1667	1244.04	35	chr11	118532154	.	G	C	1244.04	.	AC=2;AF=0.167;AN=12;DP=211;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;QD=29.75;SOR=2.303	GT:AD:DP:GQ:PL	1/1:0,34:34:99:1264,102,0	5	1	0	0
chr11	123622558	123622558	C	G	exonic	GRAMD1B	.	nonsynonymous SNV	GRAMD1B:NM_001286564:exon20:c.C2060G:p.T687R,GRAMD1B:NM_001330396:exon20:c.C2048G:p.T683R,GRAMD1B:NM_001367418:exon20:c.C2249G:p.T750R,GRAMD1B:NM_020716:exon20:c.C2180G:p.T727R,GRAMD1B:NM_001286563:exon21:c.C2201G:p.T734R,GRAMD1B:NM_001367419:exon21:c.C2261G:p.T754R,GRAMD1B:NM_001367420:exon21:c.C2333G:p.T778R,GRAMD1B:NM_001367421:exon21:c.C2465G:p.T822R	.	434	1070	18	0	0	18	0.00834106	.	.	.	3216683	GRAMD1B-related_disorder	.	no_assertion_criteria_provided	Likely_benign	.	.	.	.	.	.	.	.	0.042	0.00715918431122	8.1e-05	.	0.0010	0	0	0.0018	0.0006	0.0017	0.0078	0.0001	0.000304	47	154602	rs368223750	0.0004	0.0004	0.0004	0.0005	0.0128	0.0004	0.0004	0.0104	0.0096	0.0002	0.0004	0.0055	0.0007	0.0002	0.0128	0.0002	0.0011	0.0002	0.0005	0.0005	0.0005	0.0004	0.0004	0.0004	0.0003	0.0003	0.0003	4.823e-05	0	0.0004	0.0069	0	9.497e-05	0.0136	0.0004	0.0014	0	0.146	0.25055	T	0.523	0.10354	T	0.028	0.33731	B	0.019	0.36635	B	0.072196	0.21424	N	0.523138	0.94575	0.26652	N	.	.	.	1.9	0.46777	T	-1.99	0.45949	N	0.236	0.33250	-1.0750	0.08348	T	0.052	0.21921	T	10	0.0060343444	0.00135	T	0.007159	0.18979	T	0.042	0.11227	.	.	0.043077524339	0.03247	0.7187856299696048	0.71821	0.464502503357	0.45921	0.30792850256	0.11594	T	0.030102	0.24416	T	-0.397849	0.02392	T	-0.477195	0.24745	T	0.0136201527552237	0.00252	T	0.875612	0.58729	D	0.04573389	0.07538	0.07592025	0.16763	0.04573389	0.07538	0.07592025	0.16763	-4.724	0.33693	T	.	.	0.078	0.12418	B	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	1.990014	0.25279	16.71	0.93829338719390076	0.23815	0.32719	0.24654	N	AEFBCI	0.096920	0.19558	N	-0.482405414601827	0.22658	1.211376	-0.322574506663467	0.27370	1.518314	3.53269803208867E-4	0.06668	0.732398	0.92422	0	0.743671	0.97443	0	0.65145	0.50148	0	0.567892	0.33627	0	.	.	5.33	3.43	0.38372	0.715000	0.25493	1.088000	0.23954	0.599000	0.40250	0.452000	0.26581	0.316000	0.24298	0.999000	0.91618	0.1452:0.456:0.16:0.2388	1.469	0.02266	726	0.54788	.;.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.011579	0.005102	0.015278	0.035211	0.000000	0.008621	0.000000	0.000000	0.08333	745.83	35	chr11	123622558	.	C	G	745.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.341;DP=238;ExcessHet=0;FS=0.933;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.97;ReadPosRankSum=0.399;SOR=0.56	GT:AD:DP:GQ:PL	0/1:33,35:68:99:756,0,678	5	0	1	0
chr11	124265549	124265630	CATCCTTGTCCCCAGCCTGACCATCCTCAGCTCTTACATCTTCATCATTGCCAGCATCCTCCGCATTCGCTACACTGAGGGC	-	exonic	OR8G5	.	frameshift deletion	OR8G5:NM_001005198:exon2:c.618_699del:p.N206Kfs*53	.	436	1084	2	0	0	2	0.000921659	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.311e-05	0	0	0	0	1.498e-05	0	0.0002	.	.	.	.	2.326e-05	2.599e-05	1.77e-05	2.888e-05	0.0002	1.674e-05	1.478e-05	0.0001	8.646e-05	0	0	0	0	0	0.0002	1.169e-05	8.282e-05	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	1294.79	159	chr11	124265548	.	ACATCCTTGTCCCCAGCCTGACCATCCTCAGCTCTTACATCTTCATCATTGCCAGCATCCTCCGCATTCGCTACACTGAGGGC	A	1294.79	.	AC=1;AF=0.083;AN=12;BaseQRankSum=5.02;DP=763;ExcessHet=0;FS=10.177;MLEAC=1;MLEAF=0.083;MQ=59.2;MQRankSum=-3.884;QD=8.41;ReadPosRankSum=-0.865;SOR=1.14	GT:AD:DP:GQ:PL	0/1:115,39:154:99:1305,0,4701	5	0	1	0
chr11	124265585	124265585	C	0	exonic	OR8G5	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	13050.1	161	chr11	124265585	.	C	*	13050.1	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.066;DP=793;ExcessHet=0.7136;FS=1.134;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=17.83;ReadPosRankSum=-0.605;SOR=0.748	GT:AD:DP:GQ:PL	0/1:115,39:154:99:1305,0,4701	5	0	1	0
chr11	124669399	124669399	C	T	exonic	SIAE	.	nonsynonymous SNV	SIAE:NM_170601:exon2:c.G190A:p.G64S,SIAE:NM_001199922:exon4:c.G85A:p.G29S	.	418	1083	21	0	0	21	0.00960219	.	.	.	712681	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.117	.	0.0037	0.0247604	0.0098	0.0120	0.0022	0.0987	0.0047	0.0011	0.0099	0.0042	0.0093272	1442	154602	rs76655561	0.0052	0.0052	0.0051	0.0053	0.1248	0.0051	0.0051	0.1219	0.1207	0.0134	0.0023	0.0101	0.1248	0.0037	0.0045	0.0005	0.0099	0.0058	0.0080	0.0081	0.0069	0.0093	0.0916	0.0077	0.0075	0.0848	0.0821	0.0125	0	0.0039	0.0075	0.0916	0.0043	0.0034	0.0007	0.0057	0.0069	0.503	0.07670	T	0.663	0.13993	T	0.009	0.15093	B	0.006	0.12992	B	0.977181	0.08118	N	0.990483	1	0.08975	N	2.175	0.60977	M	-1.87	0.84415	D	-0.5	0.15782	N	0.095	0.07535	-1.0507	0.14203	T	0.013	0.05225	T	10	0.0014519095	0.00016	T	.	.	.	0.117	0.32689	.	.	0.389439708392	0.38560	0.454492101802207	0.45367	0.134854276219	0.15193	0.250621259212	0.03833	T	0.054768	0.29816	T	-0.583166	0.00184	T	-0.492322	0.23148	T	0.00193267408650194	0.00020	T	0.573543	0.20534	T	0.020574238	0.00621	0.031256612	0.01689	0.02468573	0.01325	0.031256612	0.01689	-5.985	0.48245	T	.	.	0.076	0.11797	B	.;.;.	.;.;.	0.693643	0.10624	7.325	0.93922004140430759	0.23965	0.05889	0.11838	N	AEFDGBHCI	0.064714	0.12583	N	-1.04389303044839	0.07709	0.3589937	-1.02633532765268	0.09207	0.45682	0.999983822415864	0.51787	0.77792	0.99625	0	0.68618	0.66647	0	0.659943	0.59835	0	0.825845	0.99933	0	.	.	5.4	0.239	0.14746	0.328000	0.19425	.	.	-0.173000	0.11020	0.000000	0.06391	0.000000	0.08366	0.891000	0.42908	0.1259:0.5439:0.122:0.2083	2.954	0.05513	817	0.41665	.;.;.	.	.	.	.	rs76655561	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.010070	0.005051	0.013587	0.005848	0.050000	0.017241	0.009146	0.000000	0.08333	1056.83	37	chr11	124669399	.	C	T	1056.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.306;DP=289;ExcessHet=0;FS=1.648;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.9;ReadPosRankSum=-2.386;SOR=0.698	GT:AD:DP:GQ:PL	0/1:55,42:97:99:1067,0,1457	5	0	1	0
chr11	126010479	126010479	G	C	exonic	CDON	.	nonsynonymous SNV	CDON:NM_001243597:exon8:c.C1414G:p.P472A,CDON:NM_001378964:exon8:c.C1414G:p.P472A,CDON:NM_016952:exon8:c.C1414G:p.P472A	Holoprosencephaly 11, Autosomal dominant, Isolated cases	0	1516	6	0	0	6	0.00197498	.	.	.	319329	Holoprosencephaly_11|not_provided|CDON-related_disorder	MONDO:MONDO:0013642,MedGen:C3280215,OMIM:614226,Orphanet:2162|MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.092	0.0106028722216	.	.	0.0004	9.61e-05	8.637e-05	0	0	5.994e-05	0.0011	0.0027	0.0003363	52	154602	rs750020763	0.0002	0.0002	0.0001	0.0003	0.0028	0.0002	0.0002	0.0025	0.0024	0	6.708e-05	0	0	0	0.0003	2.788e-05	0.0003	0.0028	0.0001	0.0001	0.0001	0.0001	0.0012	8.668e-05	7.259e-05	0.0005	0.0004	0	0	0.0004	0.0003	0	0	0	8.819e-05	0.0005	0.0012	0.011	0.55530	D	0.167	0.30729	T	0.364	0.33988	B	0.245	0.38823	B	0.000104	0.50451	D	0.000000	0.530445	0.31971	D	1.185	0.30054	L	1.64	0.27822	T	-1.57	0.37955	N	0.523	0.55280	-0.9302	0.44109	T	0.074	0.29770	T	10	0.02493	0.00704	T	0.010603	0.27324	T	0.101	0.28911	.	.	0.499793596984	0.49617	0.3457944210950435	0.34493	0.356941210766	0.37425	0.375721037388	0.21649	T	0.27243	0.64482	T	-0.419426	0.01725	T	-0.378617	0.35885	T	0.0752454371736955	0.09368	T	0.767423	0.39577	T	0.093708575	0.22014	0.13524885	0.32387	0.10877019	0.25716	0.13014051	0.31276	-4.537	0.31369	T	0.2892237561204022	0.38557	0.182	0.46848	B	.;.	.;.	2.890079	0.38275	20.7	0.98582081111432085	0.43258	0.93541	0.58498	D	AEFBI	0.452713	0.50615	N	0.0331709747973028	0.43370	2.631184	0.133162257327563	0.46254	2.874541	0.833578892570875	0.24736	0.553676	0.25195	0	0.588015	0.36545	0	0.566861	0.19136	0	0.564101	0.26826	0	.	.	5.48	5.48	0.80675	3.858000	0.55690	6.541000	0.55884	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.207000	0.22098	0.0:0.0:0.8452:0.1548	13.723	0.62221	870	0.31527	Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.001511	0.000000	0.001359	0.000000	0.000000	0.017241	0.000000	0.000000	0.08333	1112.83	34	chr11	126010479	.	G	C	1112.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.492;DP=263;ExcessHet=0;FS=10.423;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.65;ReadPosRankSum=-1.408;SOR=1.329	GT:AD:DP:GQ:PL	0/1:46,42:88:99:1123,0,1206	5	0	1	0
chr12	4591261	4591261	G	C	exonic	DYRK4	.	nonsynonymous SNV	DYRK4:NM_003845:exon3:c.G81C:p.K27N,DYRK4:NM_001371301:exon5:c.G426C:p.K142N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.029	0.0114393036777	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.479e-06	0.0002	5.452e-06	5.506e-06	1.16e-05	2.36e-06	1.7e-06	2.62e-06	1.69e-06	0	0	0	0	0	0	6.303e-06	0	1.16e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.314	0.13834	T	0.401	0.14961	T	0.346	0.33564	B	0.084	0.29270	B	0.121393	0.18998	N	0.456574	1	0.08975	N	1.725	0.44537	L	-0.08	0.63911	T	0.73	0.02068	N	0.144	0.14480	-0.9982	0.30423	T	0.134	0.44720	T	10	0.07988778	0.12903	T	0.011439	0.29067	T	0.029	0.06676	0.269	0.21735	0.558735321446	0.55534	0.18653166389102285	0.18571	0.09495456672	0.10722	0.417934507132	0.27553	T	9.22E-4	0.00478	T	-0.259265	0.12987	T	-0.610193	0.11969	T	0.123014807701111	0.14722	T	0.59544	0.22079	T	0.04078166	0.05886	0.040100157	0.04256	0.04078166	0.05886	0.040100157	0.04256	-4.202	0.26780	T	.	.	0.104	0.18869	B	.;.;.	.;.;.	0.165782	0.05554	2.014	0.79475724993608643	0.12759	0.01358	0.04650	N	AEFDBI	0.066344	0.12987	N	-1.06848562840135	0.07230	0.3352268	-1.19599880480459	0.05976	0.2863112	2.00585938924982E-4	0.05898	0.553676	0.25195	0	0.588015	0.36545	0	0.618467	0.43123	0	0.542086	0.14980	0	.	.	4.34	-2.7	0.05651	-0.445000	0.06918	0.067000	0.14209	-0.678000	0.04252	0.001000	0.13787	0.000000	0.08366	0.446000	0.27806	0.499:0.1481:0.3529:0.0	5.450	0.15851	834	0.38640	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.25	457.03	76	chr12	4591261	.	G	C	457.03	.	AC=3;AF=0.25;AN=12;BaseQRankSum=-2.555;DP=428;ExcessHet=1.383;FS=328.029;MLEAC=3;MLEAF=0.25;MQ=60;MQRankSum=0;QD=2.16;ReadPosRankSum=0.671;SOR=8.955	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:45,19:64:99:0|1:4591261_G_C:153,0,758:4591261	3	0	3	0
chr12	7374688	7374688	C	T	exonic	CD163L1	.	nonsynonymous SNV	CD163L1:NM_001297650:exon13:c.G3193A:p.G1065S,CD163L1:NM_174941:exon13:c.G3163A:p.G1055S	.	424	1077	21	0	0	21	0.00965517	.	.	.	2810157	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.197	.	0.0062	0.00239617	0.0065	0.0015	0.0021	0.0001	0.0174	0.0086	0.0055	0.0034	0.0062548	967	154602	rs36206713	0.0071	0.0071	0.0070	0.0072	0.0142	0.0070	0.0070	0.0117	0.0108	0.0012	0.0021	0.0064	2.519e-05	0.0184	0.0142	0.0075	0.0059	0.0034	0.0062	0.0062	0.0059	0.0066	0.0088	0.0059	0.0058	0.0082	0.0080	0.0015	0	0.0024	0.0084	0.0002	0.0186	0	0.0088	0.0066	0.0029	0.005	0.65419	D	0.015	0.61642	D	1.0	0.90584	D	0.99	0.78936	D	0.000106	0.50451	U	0.000000	0.752324	0.33943	D	2.205	0.62170	M	1.31	0.35405	T	-4.77	0.81755	D	0.476	0.51137	-0.2793	0.75560	T	0.201	0.55751	T	10	0.005099505	0.00110	T	.	.	.	0.197	0.47942	.	.	0.627962894866	0.62492	0.760817663984721	0.76029	0.799598274206	0.66178	0.419091641903	0.27712	T	0.028122	0.20444	T	-0.395982	0.02460	T	-0.333616	0.41064	T	0.0351078157136981	0.02827	T	0.958304	0.84304	D	0.5070169	0.67506	0.49410108	0.70740	0.5070169	0.67507	0.49410108	0.70740	-7.192	0.55424	T	.	.	0.122	0.29505	B	.;.	.;.	2.279549	0.29148	18.03	0.99758193766545633	0.84851	0.22721	0.21841	N	ALL	0.300792	0.40949	N	0.157934643261304	0.49189	3.122013	-0.120415441172904	0.34567	1.98988	0.999999999999987	0.74766	0.696267	0.57585	0	0.615948	0.52940	0	0.440839	0.06518	1	0.629945	0.49285	0	.	.	2.52	2.52	0.29514	2.057000	0.40991	0.621000	0.20131	-0.260000	0.06918	0.004000	0.16614	0.008000	0.19753	0.003000	0.05239	0.0:1.0:0.0:0.0	11.120	0.47506	867	0.32089	SRCR domain|SRCR domain|SRCR domain|SRCR domain|SRCR-like domain;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.005035	0.000000	0.005435	0.002924	0.000000	0.008621	0.006098	0.003788	0.08333	1451.83	34	chr12	7374688	.	C	T	1451.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.16;DP=348;ExcessHet=0;FS=1.565;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.7;ReadPosRankSum=-0.133;SOR=0.777	GT:AD:DP:GQ:PL	0/1:50,56:106:99:1462,0,1164	5	0	1	0
chr12	11353413	11353413	G	0	exonic	PRB1	.	.	.	.	776	281	207	230	28	695	0.542718	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	6474.8	95	chr12	11353413	.	G	*	6474.8	.	AC=2;AF=0.2;AN=10;BaseQRankSum=1.87;DP=599;ExcessHet=0.1336;FS=6.282;MLEAC=2;MLEAF=0.2;MQ=47.74;MQRankSum=-1.37;QD=17.55;ReadPosRankSum=1.09;SOR=1.075	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:1,93:94:99:.:.:1806,218,0:.	4	1	0	1
chr12	11353469	11353469	A	0	exonic	PRB1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	3617.43	37	chr12	11353469	.	A	*	3617.43	.	AC=2;AF=0.2;AN=10;BaseQRankSum=3.37;DP=436;ExcessHet=0.1336;FS=9.74;MLEAC=2;MLEAF=0.2;MQ=50.42;MQRankSum=-4.582;QD=15.2;ReadPosRankSum=0.126;SOR=1.341	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:1,93:94:99:.:.:1806,218,0:.	4	1	0	1
chr12	12726053	12726053	G	C	exonic	APOLD1	.	nonsynonymous SNV	APOLD1:NM_001130415:exon1:c.G53C:p.R18P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.044	0.0051435933458	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.439e-06	1.368e-06	1.419e-06	1.461e-06	3.226e-05	2.4e-07	9e-08	.	.	3.226e-05	0	0	0	0	0	0	1.741e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.122	0.27663	T	0.0	0.92824	D	0.0	0.02946	B	0.0	0.01387	B	0.541362	0.05316	U	1.755390	1	0.08975	N	0	0.06538	N	0.87	0.46412	T	-0.28	0.11547	N	0.123	0.11483	-1.0583	0.12184	T	0.042	0.17910	T	10	0.07300547	0.10973	T	0.005144	0.13063	T	0.044	0.11924	0.393	0.41770	0.358134431457	0.35428	0.22418974193990304	0.22333	.	.	0.561641097069	0.47499	T	0.003	0.02299	T	-0.274018	0.11313	T	-0.631385	0.10310	T	0.458283752202988	0.31102	T	0.360464	0.08297	T	0.20973332	0.43249	0.26736677	0.52593	0.20973332	0.43249	0.26736677	0.52592	-3.824	0.21164	T	.	.	0.095	0.15070	B	.	.	2.233519	0.28512	17.82	0.98058200547616214	0.37921	0.14978	0.18683	N	ALL	0.052494	0.09374	N	-1.17712768608242	0.05347	0.243533	-1.17505163409147	0.06329	0.3043049	0.999999999999986	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.239995	0.05000	1	0.372554	0.06265	0	.	.	3.9	-5.68	0.02240	0.146000	0.16000	0.082000	0.14403	0.672000	0.70159	0.917000	0.31872	0.014000	0.20376	0.905000	0.44082	0.2133:0.3244:0.152:0.3103	0.878	0.01150	911	0.21964	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1667	1002.04	34	chr12	12726053	.	G	C	1002.04	.	AC=2;AF=0.167;AN=12;DP=214;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;QD=27.83;SOR=1.371	GT:AD:DP:GQ:PL	1/1:0,36:36:99:1022,108,0	5	1	0	0
chr12	14883027	14883027	T	G	exonic	MGP	.	nonsynonymous SNV	MGP:NM_000900:exon3:c.A115C:p.N39H,MGP:NM_001190839:exon4:c.A190C:p.N64H	Keutel syndrome, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	265911	not_specified|Keutel_syndrome|not_provided|MGP-related_disorder	MedGen:CN169374|MONDO:MONDO:0009495,MedGen:C1855607,OMIM:245150,Orphanet:85202|MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.049	.	0.0028	0.00179712	0.0026	0.0012	0.0054	0	0	0.0036	0	0.0001	0.0027296	422	154602	rs145210821	0.0032	0.0033	0.0033	0.0031	0.0042	0.0031	0.0031	0.0037	0.0035	0.0006	0.0042	0.0188	0	7.491e-05	0.0007	0.0034	0.0039	8.12e-05	0.0026	0.0026	0.0027	0.0025	0.0046	0.0024	0.0023	0.0037	0.0034	0.0008	0	0.0046	0.0196	0	0	0	0.0031	0.0014	0.0004	0.173	0.22573	T	0.163	0.31125	T	0.011	0.15914	B	0.003	0.08700	B	0.004324	0.33859	N	0.310110	0.999994	0.08975	N	2.08	0.57402	M	1.52	0.31470	T	-0.84	0.27259	N	0.189	0.21969	-1.0223	0.22965	T	0.046	0.19919	T	10	0.010787159	0.00239	T	.	.	.	0.049	0.13647	.	.	0.242825505644	0.23883	0.3487584296977536	0.34789	0.225593416189	0.25105	0.437129288912	0.30185	T	0.067021	0.33095	T	-0.552356	0.00282	T	-0.565245	0.15888	T	0.00184389542058699	0.00019	T	0.60234	0.22547	T	0.049345296	0.08747	0.044187997	0.05669	0.074742354	0.16794	0.05331705	0.08957	-4.083	0.26155	T	.	.	0.073	0.07318	B	.;.	.;.	0.857514	0.12299	8.839	0.88072018895376392	0.17695	0.42453	0.26881	N	AEFBI	0.341192	0.43775	N	-0.840292734461166	0.12289	0.5981308	-0.776581755167042	0.15069	0.7907179	0.0810446950174519	0.15863	0.643511	0.44296	0	0.547309	0.14657	0	0.573888	0.23631	0	0.631631	0.49550	0	.	.	5.48	1.77	0.23848	0.399000	0.20641	0.743000	0.21176	-0.671000	0.04298	0.926000	0.32145	1.000000	0.68203	0.307000	0.24666	0.2523:0.0:0.1566:0.5911	6.488	0.21295	692	0.58729	Gamma-carboxyglutamic acid-rich (GLA) domain;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	0.001007	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.1667	1778.04	39	chr12	14883027	.	T	G	1778.04	.	AC=2;AF=0.167;AN=12;DP=235;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;QD=29.15;SOR=1.107	GT:AD:DP:GQ:PL	1/1:0,61:61:99:1798,183,0	5	1	0	0
chr12	31087937	31087937	G	C	splicing	DDX11	NM_152438:exon6:c.639-1G>C;NM_030653:exon6:c.639-1G>C;NM_001257144:exon6:c.639-1G>C;NM_001257145:exon6:c.561-1G>C;NM_004399:exon6:c.639-1G>C	.	.	Warsaw breakage syndrome, Autosomal recessive	2	1519	1	0	0	1	0.000329056	0.9998	0.788	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.774e-05	0.0001	0	0	0	1.635e-05	0	7.121e-05	3.84e-05	1	26028	rs757533407	3.638e-05	3.694e-05	3.412e-05	3.865e-05	0.0001	2.837e-05	2.573e-05	3.36e-05	2.391e-05	2.995e-05	0	0	0.0001	0	0	3.603e-05	3.318e-05	7.049e-05	5.259e-05	5.253e-05	3.855e-05	6.729e-05	0.0002	2.558e-05	1.831e-05	3.251e-05	1.916e-05	9.657e-05	0	0	0	0.0002	0	0	4.41e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.825704	0.28825	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.461053	0.92972	D	0.63	0.97656	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.;.;.;.;.	.;.;.;.;.;.;.	6.256819	0.94891	34	0.94510436291454913	0.24992	0.89439	0.49904	D	AEFBI	.	.	.	0.528312152357673	0.68770	5.263276	0.187832813805461	0.49178	3.124295	3.55579399123242E-4	0.06668	0.256867	0.04430	0	0.271743	0.05004	0	0.17184	0.04098	0	0.117559	0.03655	0	0.093092	0.20959	2.79	1.89	0.24700	4.013000	0.56850	9.021000	0.78571	0.558000	0.28311	0.980000	0.35271	1.000000	0.68203	0.161000	0.20682	0.1558:0.0:0.8442:0.0	5.591	0.16581	976	0.04745	.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1021.83	55	chr12	31087937	.	G	C	1021.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.564;DP=349;ExcessHet=0;FS=1.609;MLEAC=1;MLEAF=0.083;MQ=51.77;MQRankSum=1.72;QD=10.12;ReadPosRankSum=-0.085;SOR=0.919	GT:AD:DP:GQ:PL	0/1:54,47:101:99:1032,0,1256	5	0	1	0
chr12	39764776	39764776	G	C	exonic	SLC2A13	.	nonsynonymous SNV	SLC2A13:NM_052885:exon8:c.C1528G:p.L510V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.252	0.0443433292116	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.747e-06	0.0002	4.1e-06	1.38e-06	3.612e-06	6.4e-07	4.3e-07	8.5e-07	5.7e-07	0	0	0	0	0	0	3.612e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.286	0.15201	T	0.462	0.12526	T	0.374	0.34192	B	0.326	0.41929	B	0.000000	0.84330	D	0.000000	1	0.81001	D	.	.	.	-0.89	0.74793	T	-0.46	0.14978	N	0.564	0.58798	-0.6019	0.64739	T	0.322	0.69134	T	10	0.51726407	0.62438	D	0.044343	0.61442	D	0.252	0.56159	0.421	0.46365	0.695003275107	0.69237	0.8554796860303294	0.85510	0.415926434887	0.42235	0.617287814617	0.55346	T	0.14097	0.47579	T	0.161933	0.70380	D	-0.00517021	0.70000	D	0.952465236186981	0.63797	D	0.912409	0.68863	D	0.25600496	0.48637	0.19588253	0.43288	0.25600496	0.48637	0.19588253	0.43287	-8.267	0.62875	D	.	.	0.147	0.32493	B	.	.	3.372480	0.46612	22.3	0.9975783521054008	0.84772	0.94008	0.59836	D	AEFCI	0.740830	0.68496	D	0.145500679544335	0.48600	3.070197	0.293165215121814	0.55141	3.677321	0.998323112009773	0.36758	0.653281	0.48532	0	0.573888	0.26702	0	0.675528	0.61593	0	0.620846	0.47308	0	.	.	5.39	5.39	0.77615	4.252000	0.58574	11.595000	0.93433	0.671000	0.69459	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:0.0:1.0:0.0	19.172	0.93569	507	0.75469	Major facilitator superfamily domain|Major facilitator superfamily domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4167	582.61	32	chr12	39764776	.	G	C	582.61	.	AC=5;AF=0.417;AN=12;BaseQRankSum=-0.452;DP=279;ExcessHet=6.1542;FS=487.012;MLEAC=5;MLEAF=0.417;MQ=60;MQRankSum=0;QD=2.68;ReadPosRankSum=0.852;SOR=9.49	GT:AD:DP:GQ:PL	0/1:37,34:71:99:307,0,504	1	0	5	0
chr12	40436636	40436636	G	T	exonic	MUC19	.	unknown	UNKNOWN	.	430	1091	1	0	0	1	0.000458085	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.806	0.0341914588969	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	604.83	34	chr12	40436636	.	G	T	604.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.419;DP=251;ExcessHet=0;FS=0.893;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=8.06;ReadPosRankSum=0.032;SOR=0.566	GT:AD:DP:GQ:PL	0/1:44,31:75:99:615,0,1147	5	0	1	0
chr12	40482890	40482890	T	0	exonic	MUC19	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.625	3610.71	725	chr12	40482890	.	T	*	3610.71	.	AC=5;AF=0.625;AN=8;BaseQRankSum=-0.907;DP=5463;ExcessHet=0.095;FS=0;MLEAC=6;MLEAF=0.75;MQ=58.02;MQRankSum=-21.32;QD=1.08;ReadPosRankSum=2.88;SOR=0.67	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:334,465:799:99:.:.:17467,0,11485:.	1	2	1	2
chr12	40487424	40487424	-	CAGGTGTAGTGACAGGGACAACTGGCCC	exonic	MUC19	.	unknown	UNKNOWN	.	531	647	136	0	208	344	0.0951049	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.211e-06	9.603e-06	2.25e-06	0	0.0010	0	0	.	.	0	0.0010	0	0	0	0	0	0	0	0.0003	0.0073	0.0003	0.0004	0.0005	0.0003	0.0002	0.0003	0.0002	0.0002	0	0.0005	0	0.0003	0.0005	0	0.0004	0	0.0003	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4167	14265.8	784	chr12	40487424	.	T	TCAGGTGTAGTGACAGGGACAACTGGCCC	14265.8	.	AC=5;AF=0.417;AN=12;BaseQRankSum=0.854;DP=5239;ExcessHet=11.5949;FS=9.249;MLEAC=5;MLEAF=0.417;MQ=56.7;MQRankSum=-17.81;QD=3.6;ReadPosRankSum=6.38;SOR=2.906	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:620,18:638:99:.:.:387,0,25827:.	1	0	5	0
chr12	40487443	40487443	-	CCTGGAGTGTCAGCTGGGGTGACAGGGACAATTGGATCACCAGCTGGAGTGACAGGG	exonic	MUC19	.	unknown	UNKNOWN	.	536	681	142	0	163	305	0.0944149	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.209e-06	8.913e-06	2.247e-06	0	0.0010	0	0	.	.	0	0.0010	0	0	0	0	0	0	0	0.0009	0.0080	0.0007	0.0011	0.0013	0.0007	0.0007	0.0007	0.0007	0.0006	0	0.0013	0	0.0009	0.0016	0	0.0010	0.0013	0.0003	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4167	12638.8	777	chr12	40487443	.	A	ACCTGGAGTGTCAGCTGGGGTGACAGGGACAATTGGATCACCAGCTGGAGTGACAGGG	12638.8	.	AC=5;AF=0.417;AN=12;BaseQRankSum=-3.656;DP=5154;ExcessHet=11.5949;FS=11.854;MLEAC=5;MLEAF=0.417;MQ=56.84;MQRankSum=-22.75;QD=2.71;ReadPosRankSum=-2.795;SOR=2.598	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:602,14:616:99:.:.:189,0,24607:.	1	0	5	0
chr12	40488212	40488217	GGGGTG	-	exonic	MUC19	.	unknown	UNKNOWN	.	573	874	75	0	0	75	0.041141	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1328022944	0	4.385e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0005	0.0045	0.0004	0.0005	0.0005	0.0004	0.0003	0.0003	0.0003	0.0005	0	0.0005	0.0013	0	0.0004	0	0.0004	0.0010	0.0003	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	171.83	435	chr12	40488211	.	TGGGGTG	T	171.83	.	AC=1;AF=0.1;AN=10;BaseQRankSum=-3.089;DP=4166;ExcessHet=0;FS=12.751;MLEAC=1;MLEAF=0.1;MQ=58.59;MQRankSum=-24.85;QD=0.25;ReadPosRankSum=-1.166;SOR=2.546	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:635,52:687:99:0|1:40488211_TGGGGTG_T:181,0,25546:40488211	4	0	1	1
chr12	45923022	45923022	T	C	exonic	SCAF11	.	nonsynonymous SNV	SCAF11:NM_004719:exon13:c.A4039G:p.K1347E	.	427	1092	3	0	0	3	0.00137174	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.078	0.0140460157348	0.0005	0.000399361	0.0006	0.0007	0.0002	0	0.0002	0.0008	0	0.0003	0.0005886	91	154602	rs146172345	0.0011	0.0011	0.0011	0.0011	0.0013	0.0010	0.0010	0.0013	0.0012	8.961e-05	0.0003	3.826e-05	2.519e-05	1.872e-05	0.0003	0.0013	0.0012	0.0003	0.0006	0.0006	0.0007	0.0006	0.0012	0.0005	0.0005	0.0010	0.0009	0.0003	0	0.0002	0	0	0	0	0.0012	0.0005	0.0002	0.085	0.34982	T	0.183	0.29153	T	0.717	0.42239	P	0.18	0.35854	B	0.002173	0.37095	N	0.236663	0.732442	0.33733	D	1.845	0.48678	L	0.66	0.52416	T	-0.02	0.08653	N	0.202	0.27673	-0.9022	0.47760	T	0.096	0.36238	T	10	0.019759417	0.00446	T	0.014046	0.33902	T	0.078	0.22779	.	.	0.102598925029	0.09809	0.28772282256740944	0.28685	0.0884800177472	0.10002	0.354233920574	0.18543	T	0.086423	0.37720	T	-0.411205	0.01951	T	-0.419792	0.31100	T	0.0170265194643678	0.00451	T	0.871813	0.57812	D	0.07265105	0.16177	0.09037593	0.21189	0.07265105	0.16177	0.09037593	0.21189	-5.414	0.41054	T	.	.	0.142	0.31228	B	.;.;.	.;.;.	3.804134	0.54833	23.5	0.9958651360441354	0.73336	0.92382	0.55582	D	AEFGBI	0.451551	0.50548	N	0.123390694922054	0.47556	2.979629	0.235867578019921	0.51848	3.364023	0.680072360629302	0.22469	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	6.17	5.02	0.66742	3.674000	0.54333	6.696000	0.56356	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:0.1475:0.8525	12.191	0.53582	849	0.35778	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	702.83	37	chr12	45923022	.	T	C	702.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.715;DP=231;ExcessHet=0;FS=1.073;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.52;ReadPosRankSum=-0.245;SOR=0.527	GT:AD:DP:GQ:PL	0/1:20,32:52:99:713,0,458	5	0	1	0
chr12	49326113	49326113	G	T	exonic	TROAP	.	nonsynonymous SNV	TROAP:NM_005480:exon6:c.G671T:p.R224L	.	421	1100	1	0	0	1	0.000454339	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.151	0.0013040679602	.	.	8.236e-06	0	0	0	0	0	0	6.056e-05	6.5e-06	1	154602	rs151075525	6.157e-06	6.156e-06	4.084e-06	8.251e-06	6.957e-05	2.9e-06	2.1e-06	2.995e-05	2.038e-05	0	0	0	2.519e-05	0	0	8.993e-07	1.656e-05	6.957e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.059	0.38633	T	0.146	0.35582	T	0.023	0.18885	B	0.02	0.19048	B	0.104402	0.19705	N	0.469736	1	0.08975	N	1.24	0.30952	L	.	.	.	-3.31	0.81910	D	0.209	0.23632	-1.0671	0.10062	T	0.044	0.18989	T	9	0.06349167	0.08278	T	0.001304	0.01809	T	0.151	0.39764	0.165	0.06955	0.19670166235	0.19296	0.14473839207143158	0.14396	0.234622177888	0.26005	0.32752686739	0.14560	T	0.083459	0.40340	T	-0.183656	0.23193	T	-0.320057	0.42569	T	0.0672936514019966	0.08266	T	0.658334	0.26756	T	0.08636794	0.20071	0.08435004	0.19397	0.08636794	0.20071	0.08435004	0.19397	-2.882	0.08965	T	.	.	0.106	0.27039	B	.;.;.;.	.;.;.;.	1.998393	0.25390	16.74	0.98984365271216301	0.49800	0.17912	0.20040	N	AEFGBCI	0.087488	0.17739	N	-1.03693845515869	0.07846	0.3658817	-1.06409116313896	0.08415	0.4137021	0.998540323730179	0.37167	0.634777	0.41761	0	0.615513	0.52658	0	0.643519	0.47002	0	0.635551	0.53088	0	.	.	4.24	-2.1	0.06809	0.294000	0.18803	-0.423000	0.09272	-0.110000	0.15115	0.652000	0.28189	0.000000	0.08366	0.590000	0.31140	0.3906:0.1503:0.3054:0.1537	1.055	0.01488	211	0.91797	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	853.83	36	chr12	49326113	.	G	T	853.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.73;DP=268;ExcessHet=0;FS=2.876;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=9.81;ReadPosRankSum=-2.289;SOR=0.843	GT:AD:DP:GQ:PL	0/1:51,36:87:99:864,0,1186	5	0	1	0
chr12	49330881	49330881	C	T	exonic	TROAP	.	nonsynonymous SNV	TROAP:NM_005480:exon13:c.C2036T:p.P679L	.	414	1068	39	1	0	41	0.0188333	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.171	.	0.0012	0.00279553	0.0033	9.705e-05	0.0003	0	0	0.0016	0.0077	0.0171	0.0029042	449	154602	rs151202383	0.0023	0.0023	0.0018	0.0027	0.0164	0.0022	0.0022	0.0157	0.0154	0.0002	0.0005	7.66e-05	0	7.651e-05	0.0132	0.0015	0.0024	0.0164	0.0012	0.0012	0.0011	0.0013	0.0112	0.0011	0.0010	0.0088	0.0080	0.0003	0	0.0003	0	0.0002	0	0.0204	0.0015	0.0024	0.0112	0.002	0.72154	D	0.002	0.92824	D	0.993	0.65571	D	0.608	0.51027	P	0.002031	0.37411	N	0.119814	0.792242	0.34401	D	2.255	0.64187	M	.	.	.	-5.07	0.82830	D	0.491	0.57518	-0.6156	0.64172	T	0.171	0.51293	T	9	0.0036646128	0.00067	T	.	.	.	0.171	0.43483	.	.	0.358540694251	0.35469	0.5002058081100541	0.49941	0.724235548467	0.62377	0.354177832603	0.18535	T	0.13271	0.46296	T	-0.302781	0.08399	T	-0.194727	0.55145	T	0.0593209418376601	0.07061	T	0.845915	0.52533	T	0.16959953	0.37486	0.17775902	0.40399	0.16959953	0.37486	0.17775902	0.40398	-4.074	0.24905	T	.	.	0.287	0.51951	B	.;.;.	.;.;.	3.944180	0.57739	23.9	0.99772410723977034	0.86003	0.22307	0.21702	N	AEFDGBCI	0.122227	0.23727	N	0.0927473183184727	0.46124	2.857777	0.0424489785806869	0.41708	2.510312	0.999999947508023	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.67	4.78	0.60666	2.432000	0.44442	3.939000	0.40590	0.599000	0.40250	0.027000	0.20232	0.992000	0.31684	0.990000	0.65344	0.0:0.91:0.0:0.09	10.245	0.42516	201	0.92177	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.007049	0.000000	0.004076	0.005848	0.000000	0.008621	0.015244	0.007576	0.1667	4116.06	36	chr12	49330881	.	C	T	4116.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=0.122;DP=513;ExcessHet=0.4139;FS=5.35;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=11.47;ReadPosRankSum=1.63;SOR=0.692	GT:AD:DP:GQ:PL	0/1:100,91:191:99:2097,0,2393	4	0	2	0
chr12	51342684	51342684	C	T	exonic	CELA1	.	nonsynonymous SNV	CELA1:NM_001971:exon4:c.G217A:p.V73M	.	428	1093	1	0	0	1	0.000457247	.	.	.	3303790	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.893	0.325534727345	0.0002	.	7.421e-05	9.625e-05	8.651e-05	0	0	0.0001	0	0	5.82e-05	9	154602	rs145791288	0.0002	0.0002	0.0002	0.0002	0.0003	0.0002	0.0002	0.0002	0.0002	0	2.236e-05	0	0	0	0.0003	0.0003	4.967e-05	1.159e-05	2.629e-05	2.627e-05	3.855e-05	1.346e-05	4.41e-05	8.14e-06	5.14e-06	1.171e-05	6.25e-06	2.415e-05	0	0	0	0	0	0	4.41e-05	0	0	0.041	0.41915	D	0.016	0.60972	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.06	0.86941	M	-4.05	0.96496	D	-2.94	0.61435	D	0.846	0.84194	1.067	0.98520	D	0.929	0.97655	D	10	0.9299174	0.92333	D	0.325535	0.91601	D	0.893	0.96947	.	.	0.916288729468	0.91545	0.7135993069093439	0.71302	0.591077175418	0.54556	0.565438807011	0.48034	T	0.762551	0.93579	D	0.331359	0.85255	D	0.474866	0.94099	D	0.913032472133636	0.56916	D	0.918808	0.70803	D	0.7423358	0.80426	0.6428985	0.79130	0.7423358	0.80427	0.6428985	0.79131	-9.547	0.71151	D	.	.	0.656	0.71160	P	.	.	4.819463	0.78483	26.9	0.99771218298202502	0.85918	0.98640	0.85021	D	AEFDGBI	0.807879	0.73180	D	0.664872476260137	0.77336	6.654911	0.589770642658605	0.74202	6.097613	0.99999999999871	0.74766	0.428477	0.06694	0	0.491513	0.07743	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	5.15	5.15	0.70287	7.349000	0.78620	7.363000	0.58355	0.596000	0.33519	1.000000	0.71638	1.000000	0.68203	0.373000	0.26178	0.0:1.0:0.0:0.0	17.770	0.88399	303	0.87825	Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1178.83	33	chr12	51342684	.	C	T	1178.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.452;DP=288;ExcessHet=0;FS=0.727;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.72;ReadPosRankSum=0.152;SOR=0.558	GT:AD:DP:GQ:PL	0/1:55,55:110:99:1189,0,1185	5	0	1	0
chr12	52185475	52185475	C	T	exonic	KRT80	.	nonsynonymous SNV	KRT80:NM_001081492:exon2:c.G413A:p.R138Q,KRT80:NM_182507:exon2:c.G413A:p.R138Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.338	0.0167987623252	7.7e-05	.	4.951e-05	0	0.0003	0	0	3.003e-05	0	0	3.88e-05	6	154602	rs140425330	3.489e-05	3.557e-05	3.131e-05	3.851e-05	0.0003	2.697e-05	2.438e-05	0.0002	0.0002	2.987e-05	0.0003	0	2.519e-05	0	0	2.878e-05	1.656e-05	2.319e-05	3.943e-05	3.94e-05	6.424e-05	1.345e-05	0.0001	1.716e-05	1.13e-05	2.261e-05	1.124e-05	0	0	0.0001	0	0	0	0	5.88e-05	0	0	0.048	0.40068	D	0.104	0.44106	T	0.545	0.39325	P	0.071	0.31939	B	0.046231	0.23460	N	0.216774	0.801189	0.34513	D	0.505	0.13445	N	-2.34	0.87989	D	-0.33	0.12472	N	0.171	0.18239	-0.1944	0.77816	T	0.305	0.67603	T	10	0.11524448	0.21706	T	0.016799	0.38225	T	0.338	0.66010	.	.	0.572862713182	0.56953	0.11341934152256358	0.11269	0.130674028925	0.14740	0.305781841278	0.11269	T	0.085918	0.37610	T	-0.303903	0.08296	T	-0.363794	0.37612	T	0.0612341104094052	0.07361	T	0.622038	0.23930	T	0.094941184	0.22334	0.13394745	0.32107	0.094941184	0.22334	0.13394745	0.32107	-4.416	0.29773	T	.	.	0.072	0.09433	B	.;.	.;.	1.609744	0.20572	14.81	0.99763032790064576	0.85254	0.44633	0.27361	N	AEFDGBCI	0.151159	0.27558	N	-0.26940601503668	0.30336	1.690547	-0.122552056054802	0.34482	1.98399	0.999999889772491	0.74766	0.50712	0.20391	0	0.59043	0.45803	0	0.527494	0.11647	0	0.635259	0.50027	0	.	.	4.84	3.95	0.44952	-0.043000	0.11996	.	.	-0.182000	0.10109	0.001000	0.13787	0.000000	0.08366	0.454000	0.27984	0.0:0.9156:0.0:0.0844	11.971	0.52352	337	0.86119	.;Intermediate filament, rod domain|Intermediate filament, rod domain|Intermediate filament, rod domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	688.83	33	chr12	52185475	.	C	T	688.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.189;DP=230;ExcessHet=0;FS=2.219;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.08;ReadPosRankSum=0.216;SOR=0.807	GT:AD:DP:GQ:PL	0/1:28,29:57:99:699,0,641	5	0	1	0
chr12	55321464	55321464	A	C	exonic	OR6C1	.	nonsynonymous SNV	OR6C1:NM_001005182:exon1:c.A865C:p.S289R	.	428	1048	45	1	0	47	0.0219319	.	.	.	2807066	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.219	.	0.0052	0.00139776	0.0054	0.0010	0.0061	0.0001	0.0006	0.0076	0.0110	0.0036	0.0052005	804	154602	rs141094641	0.0051	0.0051	0.0049	0.0052	0.0314	0.0050	0.0049	0.0277	0.0262	0.0014	0.0059	0.0349	2.52e-05	0.0004	0.0314	0.0047	0.0074	0.0040	0.0046	0.0046	0.0048	0.0043	0.0059	0.0043	0.0042	0.0052	0.0050	0.0009	0	0.0059	0.0358	0	0.0005	0.0442	0.0056	0.0076	0.0052	0.0	0.91255	D	0.0	0.92824	D	0.575	0.38708	P	0.382	0.43908	B	0.000052	0.53742	D	0.080364	1	0.08975	N	2.81	0.81869	M	1.09	0.39223	T	-2.14	0.48523	N	0.595	0.61426	-0.7955	0.55409	T	0.144	0.46660	T	10	0.006237328	0.00141	T	.	.	.	0.219	0.51417	0.733	0.86633	0.670434146419	0.66765	0.4117765149494357	0.41093	0.0552029983548	0.06109	0.194632589817	0.00318	T	0.030314	0.21516	T	-0.379325	0.03146	T	-0.315454	0.43071	T	0.0654558882466003	0.07998	T	0.942106	0.78341	D	0.86085105	0.88151	0.85457575	0.91812	0.86085105	0.88153	0.85457575	0.91813	-9.011	0.67769	D	.	.	0.791	0.76883	P	.;.	.;.	2.732240	0.35768	19.98	0.9952301045189802	0.69346	0.26884	0.23121	N	AEFBI	0.104890	0.20974	N	0.076724186239751	0.45379	2.795396	0.0321144469860912	0.41215	2.472428	1.07706437557489E-4	0.05123	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.34	5.34	0.75982	1.185000	0.31675	.	.	0.728000	0.85494	0.038000	0.20882	0.002000	0.18203	0.946000	0.48989	1.0:0.0:0.0:0.0	15.134	0.72222	862	0.33134	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.030211	0.040404	0.032609	0.040936	0.000000	0.034483	0.009146	0.011364	0.08333	946.83	39	chr12	55321464	.	A	C	946.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.714;DP=294;ExcessHet=0;FS=3.958;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=9.76;ReadPosRankSum=-0.957;SOR=1.194	GT:AD:DP:GQ:PL	0/1:58,39:97:99:957,0,1500	5	0	1	0
chr12	55452341	55452341	T	C	exonic	OR6C2	.	nonsynonymous SNV	OR6C2:NM_054105:exon1:c.T128C:p.I43T	.	434	1061	25	2	0	29	0.0134821	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.282	0.0016528426431	0.0015	0.000998403	0.0024	9.615e-05	0.0017	0.0001	0.0005	0.0033	0.0011	0.0024	0.0022121	342	154602	rs145941340	0.0019	0.0019	0.0018	0.0020	0.0125	0.0018	0.0018	0.0102	0.0093	0.0005	0.0021	0.0105	2.52e-05	0.0002	0.0125	0.0017	0.0027	0.0026	0.0018	0.0018	0.0019	0.0017	0.0030	0.0016	0.0015	0.0023	0.0021	0.0002	0	0.0030	0.0112	0	0.0003	0.0272	0.0022	0.0005	0.0029	0.0	0.91255	D	0.0	0.92824	D	0.999	0.77913	D	0.989	0.78396	D	0.000016	0.62929	D	0.000000	0.790344	0.34378	D	2.655	0.77738	M	6.76	0.00492	T	-4.51	0.78222	D	0.344	0.38541	-1.0369	0.18264	T	0.008	0.02679	T	10	0.0125878155	0.00270	T	0.001653	0.02702	T	0.282	0.59981	.	.	0.420073118136	0.41620	0.19720575795594664	0.19637	0.00552308939964	0.00483	0.307860404253	0.11583	T	0.041707	0.25945	T	-0.264687	0.12355	T	-0.157597	0.58567	T	0.0822868449318139	0.10277	T	0.868313	0.57032	D	0.6321535	0.74413	0.54170585	0.73513	0.6321535	0.74414	0.54170585	0.73513	-10.371	0.76103	D	.	.	0.712	0.73446	P	.;.;.	.;.;.	3.067158	0.41210	21.3	0.99425988388501674	0.64032	0.99092	0.91107	D	AEFI	0.676045	0.64122	D	0.625462624378572	0.74788	6.192773	0.47252562369448	0.66174	4.918085	0.0541079763769736	0.14960	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.42	5.42	0.78666	5.926000	0.69791	.	.	0.645000	0.52629	0.993000	0.37899	0.951000	0.29025	0.001000	0.02609	0.0:0.0:0.0:1.0	14.421	0.66755	783	0.47268	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.012085	0.020202	0.012228	0.014620	0.000000	0.008621	0.006098	0.003788	0.08333	1310.83	34	chr12	55452341	.	T	C	1310.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.169;DP=273;ExcessHet=0;FS=0.738;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.73;ReadPosRankSum=1.48;SOR=0.576	GT:AD:DP:GQ:PL	0/1:49,54:103:99:1321,0,1193	5	0	1	0
chr12	55492412	55492412	T	C	exonic	OR6C68	.	nonsynonymous SNV	OR6C68:NM_001005519:exon1:c.T35C:p.L12P	.	429	1063	28	2	0	32	0.0148285	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.203	.	0.0022	0.00339457	0.0025	0.0002	0.0024	0	0.0032	0.0031	0.0033	0.0027	0.0024515	379	154602	rs117985155	0.0026	0.0026	0.0026	0.0027	0.0136	0.0025	0.0025	0.0111	0.0103	0.0004	0.0023	3.836e-05	0	0.0024	0.0136	0.0028	0.0030	0.0021	0.0024	0.0024	0.0023	0.0024	0.0039	0.0022	0.0021	0.0031	0.0028	0.0004	0	0.0039	0	0	0.0046	0.0068	0.0032	0.0052	0.0014	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.993	0.81110	D	0.071944	0.21440	N	0.188860	0.991601	0.24010	N	3.865	0.95877	H	6.57	0.00522	T	-6.21	0.90411	D	0.789	0.78546	-1.0266	0.21560	T	0.010	0.03673	T	10	0.025379002	0.00734	T	.	.	.	0.203	0.48915	.	.	0.177238962908	0.17366	0.38092511495990716	0.38007	0.0215845920009	0.02143	0.269143164158	0.06029	T	0.051137	0.28794	T	-0.20296	0.20379	T	-0.0648343	0.65993	T	0.118353866398319	0.14268	T	0.852615	0.53799	D	0.8558097	0.87768	0.7081278	0.82788	0.8558097	0.87769	0.7081278	0.82789	-12.4	0.86745	D	.	.	0.215	0.44371	B	.	.	3.080598	0.41440	21.4	0.99791937209125881	0.87750	0.80020	0.39772	D	AEFI	0.543391	0.55874	D	0.576986557413594	0.71740	5.697058	0.34508044901819	0.58213	3.990421	0.900635547758469	0.26081	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	4.77	4.77	0.60425	6.322000	0.72847	.	.	0.650000	0.52971	0.772000	0.29380	0.366000	0.24545	0.004000	0.06068	0.0:0.0:0.0:1.0	14.430	0.66817	747	0.52260	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.011078	0.005051	0.020380	0.008772	0.000000	0.017241	0.006098	0.000000	0.08333	990.83	35	chr12	55492412	.	T	C	990.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.321;DP=253;ExcessHet=0;FS=4.427;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.54;ReadPosRankSum=-0.816;SOR=1.297	GT:AD:DP:GQ:PL	0/1:42,37:79:99:1001,0,1095	5	0	1	0
chr12	57546597	57546597	C	T	exonic	DCTN2	.	nonsynonymous SNV	DCTN2:NM_001348065:exon1:c.G64A:p.G22R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs954982075	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.582e-06	6.569e-06	0	1.348e-05	1.471e-05	0	0	.	.	0	0	0	0	0	0	0	1.471e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	551.83	35	chr12	57546597	.	C	T	551.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.579;DP=221;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.26;ReadPosRankSum=-1.724;SOR=0.616	GT:AD:DP:GQ:PL	0/1:23,26:49:99:562,0,506	5	0	1	0
chr12	71577986	71577986	C	G	exonic	LGR5	.	nonsynonymous SNV	LGR5:NM_001277226:exon13:c.C1198G:p.L400V,LGR5:NM_001277227:exon13:c.C1054G:p.L352V,LGR5:NM_003667:exon14:c.C1270G:p.L424V	.	433	1058	26	5	0	36	0.0167286	.	.	.	725271	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.331	.	0.0052	0.0071885	0.0074	0.0011	0.0016	0.0005	0.0065	0.0071	0.0143	0.0202	0.0069533	1075	154602	rs138215571	0.0065	0.0066	0.0059	0.0071	0.0216	0.0064	0.0063	0.0207	0.0204	0.0007	0.0022	0.0010	0.0003	0.0055	0.0132	0.0060	0.0072	0.0216	0.0049	0.0049	0.0046	0.0052	0.0228	0.0046	0.0045	0.0193	0.0180	0.0011	0	0.0039	0.0006	0.0004	0.0051	0.0136	0.0065	0.0118	0.0228	0.003	0.68238	D	0.005	0.72224	D	0.998	0.73220	D	0.98	0.74843	D	0.000287	0.46274	D	0.000000	0.96767	0.38609	D	3.065	0.87014	M	3.5	0.66113	T	-2.43	0.55339	N	0.764	0.81162	-0.0696	0.80789	T	0.386	0.74136	T	10	0.007958859	0.00181	T	.	.	.	0.331	0.65325	.	.	0.935978234382	0.93531	0.7107525724361232	0.71017	0.344829867764	0.36407	0.516217410564	0.41094	T	0.456447	0.79521	T	-0.0760579	0.40353	T	0.134228	0.79166	D	0.0618834212141487	0.07462	T	0.835216	0.84482	T	0.6065306	0.73042	0.33984563	0.59744	0.6065306	0.73043	0.33984563	0.59743	-8.579	0.64950	D	.	.	0.152	0.39999	B	.;.;.	.;.;.	3.077795	0.41394	21.3	0.99826733912632593	0.90939	0.91336	0.53328	D	AEFBCI	0.519773	0.54491	D	0.602347789383223	0.73322	5.94738	0.507271652457146	0.68478	5.225638	0.195574354562646	0.18054	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	5.31	4.39	0.52211	0.971000	0.28993	3.258000	0.37072	0.599000	0.40250	0.936000	0.32490	1.000000	0.68203	0.952000	0.50033	0.0:0.8349:0.0:0.1651	9.556	0.38506	869	0.31655	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.012085	0.010101	0.006793	0.005848	0.000000	0.025862	0.015244	0.015152	0.08333	1129.83	34	chr12	71577986	.	C	G	1129.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-3.121;DP=263;ExcessHet=0;FS=1.846;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.78;ReadPosRankSum=1.87;SOR=0.466	GT:AD:DP:GQ:PL	0/1:36,46:82:99:1140,0,975	5	0	1	0
chr12	71584429	71584429	G	C	exonic	LGR5	.	nonsynonymous SNV	LGR5:NM_001277226:exon17:c.G2347C:p.V783L,LGR5:NM_001277227:exon17:c.G2203C:p.V735L,LGR5:NM_003667:exon18:c.G2419C:p.V807L	.	419	1102	0	1	0	2	0.000906618	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.045	0.00691056198974	.	.	.	.	.	.	.	.	.	.	6.5e-06	1	154602	rs1197841979	6.841e-07	6.84e-07	1.361e-06	0	8.994e-07	0	0	.	.	0	0	0	0	0	0	8.994e-07	0	0	1.973e-05	1.971e-05	1.286e-05	2.694e-05	4.411e-05	5.25e-06	2.46e-06	1.171e-05	6.25e-06	0	0	0	0	0	0	0	4.411e-05	0	0	0.229	0.18956	T	0.406	0.14961	T	0.018	0.17786	B	0.028	0.21332	B	0.004786	0.33389	N	0.207336	0.939625	0.37267	D	0.955	0.23872	L	-0.56	0.71187	T	-0.88	0.25118	N	0.223	0.30347	-0.8205	0.53902	T	0.204	0.56155	T	10	0.22058952	0.38760	T	0.006911	0.18289	T	0.045	0.12272	0.456	0.52102	0.874189278319	0.87295	0.5358408385700676	0.53509	0.0571578602382	0.06324	0.463468670845	0.33785	T	0.093357	0.39194	T	-0.109036	0.34928	T	-0.394399	0.34036	T	0.569681823253632	0.35222	D	0.889511	0.72788	D	0.12282577	0.28855	0.1372447	0.32810	0.12282577	0.28855	0.1372447	0.32809	-6.622	0.52959	T	.	.	0.180	0.42022	B	.;.;.	.;.;.	2.577022	0.33407	19.33	0.98549142193313599	0.42820	0.81674	0.41031	D	AEFBHCI	.	.	.	-0.170340255596332	0.34374	1.961174	0.0389806947868419	0.41542	2.497545	0.929367184938469	0.26965	0.516011	0.20929	0	0.610034	0.51514	0	0.602189	0.34648	0	0.542086	0.14980	0	.	.	6.06	5.16	0.70563	3.572000	0.53593	8.670000	0.78005	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:0.7289:0.2711	14.247	0.65540	880	0.29376	GPCR, rhodopsin-like, 7TM;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1801.83	35	chr12	71584429	.	G	C	1801.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.176;DP=311;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.06;ReadPosRankSum=-1.006;SOR=0.635	GT:AD:DP:GQ:PL	0/1:74,64:138:99:1812,0,2060	5	0	1	0
chr12	80377139	80377139	A	T	exonic	OTOGL	.	nonsynonymous SNV	OTOGL:NM_001378609:exon58:c.A6771T:p.R2257S,OTOGL:NM_173591:exon58:c.A6771T:p.R2257S,OTOGL:NM_001378610:exon61:c.A6771T:p.R2257S,OTOGL:NM_001368062:exon62:c.A6636T:p.R2212S	Deafness, autosomal recessive 84B, Autosomal recessive	22	1497	3	0	0	3	0.001001	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.099	0.0143797368158	.	.	8.337e-06	0	0	0	0	0	0	6.154e-05	6.5e-06	1	154602	rs775109108	8.245e-06	8.209e-06	8.202e-06	8.288e-06	0.0002	4.4e-06	3.47e-06	2.217e-05	1.446e-05	0	0	0	0	0	0.0002	4.511e-06	1.664e-05	5.875e-05	6.575e-06	6.566e-06	0	1.346e-05	1.471e-05	0	0	.	.	0	0	0	0	0	0	0	1.471e-05	0	0	0.003	0.68238	D	0.007	0.69154	D	.	.	.	.	.	.	0.000104	0.50451	D	0.123853	0.744794	0.33862	D	.	.	.	2.44	0.15145	T	-4.27	0.76254	D	0.604	0.62188	-1.0501	0.14369	T	0.043	0.18326	T	10	0.2658444	0.44084	T	0.01438	0.34458	T	0.099	0.28413	.	.	0.0846915920261	0.08053	0.4830935075549134	0.48229	0.167897587978	0.18931	0.435053765774	0.29901	T	.	.	.	-0.266945	0.12099	T	-0.416674	0.31457	T	0.85589462518692	0.50681	D	0.835616	0.50622	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.746	0.77579	P	.;.;.	.;.;.	3.771576	0.54171	23.5	0.99587440405562422	0.73395	0.95616	0.65436	D	AEFBIJ	0.521469	0.54589	D	-0.157422090659677	0.34921	1.999	-0.123766265139654	0.34435	1.980703	1.68914747530022E-6	0.01202	0.638212	0.43195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.668105	0.65232	0	.	.	5.32	0.432	0.15742	1.295000	0.32983	2.289000	0.31947	0.691000	0.84096	0.998000	0.41325	0.995000	0.32472	0.993000	0.69303	0.6261:0.0:0.3739:0.0	9.634	0.38960	778	0.48011	Cystine knot, C-terminal;.;Cystine knot, C-terminal	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	0.000518	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.08333	205.83	24	chr12	80377139	.	A	T	205.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.121;DP=192;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=5.02;ReadPosRankSum=0.618;SOR=0.446	GT:AD:DP:GQ:PL	0/1:30,11:41:99:216,0,838	5	0	1	0
chr12	82896304	82896304	G	A	exonic	TMTC2	.	nonsynonymous SNV	TMTC2:NM_001320321:exon2:c.G406A:p.V136I,TMTC2:NM_001320322:exon3:c.G1141A:p.V381I,TMTC2:NM_152588:exon3:c.G1141A:p.V381I	.	429	1014	75	4	0	83	0.0393179	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.089	.	0.0055	0.0115815	0.0112	0.0010	0.0031	0	0.0056	0.0089	0.0132	0.0408	0.0102715	1588	154602	rs35725509	0.0081	0.0081	0.0070	0.0093	0.0393	0.0080	0.0080	0.0382	0.0378	0.0012	0.0033	0.0130	7.557e-05	0.0046	0.0355	0.0063	0.0085	0.0393	0.0066	0.0066	0.0061	0.0071	0.0455	0.0062	0.0061	0.0405	0.0386	0.0013	0	0.0056	0.0130	0	0.0050	0.0272	0.0076	0.0071	0.0455	0.445	0.09600	T	0.397	0.15157	T	0.0	0.02946	B	0.0	0.04355	B	0.893502	0.07310	N	1.043000	1	0.08975	N	-0.14	0.04484	N	0.77	0.61089	T	-0.11	0.09135	N	0.031	0.03392	-1.0100	0.26917	T	0.067	0.27674	T	10	0.0032096207	0.00054	T	.	.	.	0.089	0.25827	.	.	.	.	0.4571219011695271	0.45630	0.120313219127	0.13549	0.259975850582	0.04888	T	0.001475	0.07715	T	-0.57472	0.00207	T	-0.569046	0.15538	T	0.00167859473731369	0.00017	T	0.385361	0.09439	T	0.029437745	0.02440	0.030641649	0.01546	0.029437745	0.02440	0.030641649	0.01546	-3.77	0.20357	T	.	.	0.063	0.01470	B	.;.;.	.;.;.	0.634495	0.10029	6.781	0.79113060385662604	0.12596	0.32747	0.24661	N	AEFBCI	0.178763	0.30603	N	-0.971895891915682	0.09207	0.434826	-0.862844228796074	0.12979	0.6707715	0.0213079614217698	0.13337	0.638212	0.43195	0	0.588015	0.36545	0	0.653264	0.51672	0	0.655142	0.61905	0	.	.	5.86	4.98	0.65679	1.657000	0.36981	2.077000	0.30474	-0.667000	0.04321	0.023000	0.19925	0.033000	0.21346	0.102000	0.18378	0.1418:0.0:0.7159:0.1423	6.911	0.23515	793	0.45818	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.028701	0.005051	0.024457	0.043860	0.000000	0.068966	0.024390	0.018939	0.08333	1734.83	35	chr12	82896304	.	G	A	1734.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.416;DP=313;ExcessHet=0;FS=0.628;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.39;ReadPosRankSum=0.113;SOR=0.596	GT:AD:DP:GQ:PL	0/1:72,68:140:99:1745,0,1857	5	0	1	0
chr12	85027922	85027922	C	T	exonic	TSPAN19	.	nonsynonymous SNV	TSPAN19:NM_001100917:exon4:c.G241A:p.E81K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.208	0.0649512470713	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1191865318	8.391e-06	1.094e-05	9.705e-06	7.054e-06	0.0001	4.48e-06	3.53e-06	3.501e-05	2.117e-05	3.068e-05	0.0001	3.928e-05	2.578e-05	0	0	2.735e-06	1.688e-05	1.237e-05	2.63e-05	2.627e-05	5.141e-05	0	5.881e-05	8.15e-06	5.14e-06	1.972e-05	1.125e-05	0	0	0	0	0	0	0	5.881e-05	0	0	0.03	0.45393	D	0.193	0.28669	T	0.008	0.14655	B	0.003	0.08700	B	.	.	.	.	1	0.08975	N	2.265	0.64440	M	-1.46	0.80983	T	-3.68	0.70314	D	0.327	0.36779	-0.8159	0.54189	T	0.289	0.66104	T	9	0.3865534	0.54583	T	0.064951	0.69433	D	0.208	0.49714	0.772	0.89846	0.0666544352282	0.05500	0.3709435937602121	0.37008	0.0138822183601	0.01324	0.30561208725	0.11244	T	0.332344	0.70232	T	-0.0986282	0.36653	T	-0.379449	0.35787	T	0.0739902442990522	0.09201	T	0.578142	0.20837	T	0.14972763	0.34121	0.14735267	0.34874	0.14972763	0.34121	0.14735267	0.34873	-4.801	0.34603	T	.	.	0.174	0.38099	B	.;.	.;.	1.340411	0.17468	13.18	0.82526502845506489	0.14238	0.01874	0.05772	N	AEFBI	0.041113	0.06207	N	-1.35854494510219	0.03037	0.1350582	-1.41155050362419	0.03136	0.1456902	0.0269019477866073	0.13741	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	3.99	-1.66	0.07824	0.262000	0.18229	1.248000	0.25151	-0.991000	0.01849	0.166000	0.23880	0.820000	0.27118	0.024000	0.12247	0.0:0.7083:0.1457:0.146	6.565	0.21705	933	0.16026	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	855.83	40	chr12	85027922	.	C	T	855.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.128;DP=235;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.76;ReadPosRankSum=-0.064;SOR=0.788	GT:AD:DP:GQ:PL	0/1:22,36:58:99:866,0,459	5	0	1	0
chr12	101386059	101386059	G	A	exonic	UTP20	.	nonsynonymous SNV	UTP20:NM_014503:exon62:c.G8294A:p.R2765H	.	441	1078	3	0	0	3	0.00138953	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.189	0.0287708176891	0.0035	0.00119808	0.0031	0.0018	0.0006	0	0.0027	0.0045	0.0022	0.0022	0.0030401	470	154602	rs118052100	0.0041	0.0041	0.0041	0.0041	0.0048	0.0040	0.0040	0.0047	0.0047	0.0008	0.0017	3.845e-05	7.562e-05	0.0032	0.0005	0.0048	0.0030	0.0022	0.0033	0.0032	0.0035	0.0030	0.0047	0.0030	0.0029	0.0043	0.0041	0.0011	0.0570	0.0020	0	0	0.0026	0.0034	0.0047	0.0028	0.0023	0.004	0.65419	D	0.0	0.92824	D	1.0	0.90584	D	0.983	0.75793	D	0.000000	0.84330	D	0.000000	0.999996	0.58761	D	2.075	0.57047	M	2.09	0.20122	T	-3.16	0.64246	D	0.589	0.60918	-0.9707	0.37052	T	0.097	0.36522	T	10	0.010420471	0.00232	T	0.028771	0.51392	D	0.189	0.46613	.	.	0.729170019825	0.72676	0.39820750156170415	0.39735	0.610862558418	0.55752	0.648675620556	0.59798	T	0.248321	0.61810	T	-0.379792	0.03125	T	-0.314596	0.43164	T	0.0263633914245369	0.01455	T	0.907809	0.67374	D	0.29453546	0.52410	0.214113	0.45949	0.29453546	0.52410	0.214113	0.45948	-4.252	0.27499	T	.	.	0.241	0.47557	B	.	.	5.180072	0.86850	29.0	0.99922431890203078	0.98852	0.98649	0.85128	D	AEFBI	0.790384	0.71929	D	0.758183376459809	0.83436	8.017291	0.733994438704107	0.84955	8.439397	0.997655431653178	0.35867	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.93	5.04	0.67293	9.268000	0.94851	11.840000	0.97786	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0715:0.0:0.9285:0.0	13.637	0.61696	832	0.38914	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.08333	212.83	33	chr12	101386059	.	G	A	212.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.24;DP=159;ExcessHet=0;FS=1.583;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=7.6;ReadPosRankSum=0.84;SOR=0.967	GT:AD:DP:GQ:PL	0/1:18,10:28:99:223,0,412	5	0	1	0
chr12	106321520	106321520	G	A	exonic	TCP11L2	.	nonsynonymous SNV	TCP11L2:NM_001286262:exon5:c.G449A:p.R150Q,TCP11L2:NM_152772:exon5:c.G449A:p.R150Q	.	425	1090	7	0	0	7	0.00320073	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.271	0.0266167698494	0.0021	0.000399361	0.0014	0.0009	0.0008	0.0002	0.0002	0.0022	0.0023	0.0002	0.0015718	243	154602	rs138066544	0.0025	0.0025	0.0026	0.0024	0.0030	0.0024	0.0024	0.0029	0.0029	0.0005	0.0013	0.0011	2.519e-05	9.36e-05	0.0024	0.0030	0.0028	0.0003	0.0017	0.0017	0.0020	0.0015	0.0028	0.0015	0.0015	0.0025	0.0023	0.0006	0	0.0020	0.0009	0	0.0002	0.0068	0.0028	0.0038	0.0004	0.064	0.68238	T	0.055	0.60972	T	0.996	0.68779	D	0.954	0.69447	D	0.000019	0.62929	D	0.113050	1	0.81001	D	2.725	0.79712	M	2.55	0.13795	T	-3.3	0.67129	D	0.433	0.48689	-1.0902	0.05499	T	0.112	0.40052	T	10	0.022249341	0.00551	T	0.026617	0.49512	D	0.271	0.58633	.	.	0.472982741448	0.46926	0.599964848057429	0.59927	0.13347774739	0.15028	0.351426035166	0.18132	T	0.100132	0.40562	T	-0.396211	0.02451	T	-0.34205	0.40113	T	0.0246036288702697	0.01221	T	0.937406	0.82717	D	0.5663731	0.70860	0.41167554	0.65392	0.5663731	0.70862	0.41167554	0.65392	-8.716	0.65850	D	.	.	0.201	0.42462	B	.;.;.;.	.;.;.;.	5.138356	0.86020	28.8	0.99960205834434734	0.99994	0.98773	0.86667	D	AEFBI	0.798578	0.72508	D	0.772792629799758	0.84378	8.271391	0.800262199471699	0.89812	10.13136	0.999999471590173	0.74766	0.615465	0.37627	0	0.588015	0.36545	0	0.658983	0.55881	0	0.635551	0.53088	0	.	.	5.98	5.98	0.97147	7.714000	0.83668	9.822000	0.81809	0.614000	0.49286	1.000000	0.71638	1.000000	0.68203	0.935000	0.47363	0.0:0.0:1.0:0.0	20.437	0.99095	937	0.14592	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003525	0.000000	0.000000	0.005848	0.000000	0.008621	0.009146	0.003788	0.08333	274.83	34	chr12	106321520	.	G	A	274.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.32;DP=208;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=9.16;ReadPosRankSum=1.16;SOR=0.61	GT:AD:DP:GQ:PL	0/1:19,11:30:99:285,0,520	5	0	1	0
chr12	113197551	113197551	C	T	exonic	IQCD	.	nonsynonymous SNV	IQCD:NM_001330452:exon4:c.G1025A:p.G342D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.079	0.00651252771652	.	.	8.118e-05	0	0	0	0	0	0	0.0001	6.5e-06	1	154602	rs779777850	2.899e-06	4.104e-06	0	5.871e-06	5.053e-05	6.8e-07	4.6e-07	1.679e-05	9.95e-06	0	0	0	0	0	0	0	0	5.053e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.039	0.42487	D	0.228	0.25286	T	.	.	.	.	.	.	.	.	.	.	0.999895	0.50595	D	.	.	.	0.74	0.50459	T	-3.29	0.65742	D	0.286	0.32370	-1.0638	0.10831	T	0.105	0.38341	T	6	0.14026812	0.26664	T	0.006513	0.17157	T	0.079	0.23065	0.123	0.02942	0.585747170787	0.58248	0.5588668069127177	0.55813	.	.	.	.	.	0.199252	0.55647	T	-0.248719	0.14256	T	-0.467265	0.25811	T	0.279787769706349	0.24162	T	0.683432	0.29175	T	0.2293974	0.45676	0.2915383	0.55179	0.2293974	0.45676	0.2915383	0.55178	-9.196	0.68949	D	.	.	0.361	0.57274	A	.	.	2.746271	0.35986	20.1	0.99255341185103285	0.57022	0.21431	0.21399	N	AEFBCI	0.114859	0.22608	N	-0.261805596152856	0.30635	1.710013	-0.300403582902887	0.28086	1.563227	0.999825298979669	0.43622	0.533608	0.22052	0	0.480063	0.06835	0	0.576033	0.28219	0	0.638833	0.57524	0	.	.	5.22	4.32	0.50899	1.274000	0.32736	0.390000	0.17879	0.599000	0.40250	0.004000	0.16614	0.000000	0.08366	0.949000	0.49496	0.1491:0.7698:0.0:0.0811	8.770	0.33887	734	0.53889	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	991.83	35	chr12	113197551	.	C	T	991.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.589;DP=246;ExcessHet=0;FS=0.908;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.22;ReadPosRankSum=0.143;SOR=0.919	GT:AD:DP:GQ:PL	0/1:35,40:75:99:1002,0,810	5	0	1	0
chr12	122582769	122582769	G	T	exonic	KNTC1	.	nonsynonymous SNV	KNTC1:NM_014708:exon34:c.G3047T:p.R1016L	.	419	1101	2	0	0	2	0.000907441	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.036	0.00403834631679	.	0.000399361	0.0006	0	0	0	0	0	0	0.0043	0.0004398	68	154602	rs370881274	0.0002	0.0002	0.0001	0.0003	0.0033	0.0002	0.0002	0.0030	0.0029	0	0	0	0	0	0.0002	8.997e-07	0.0002	0.0033	7.888e-05	7.877e-05	5.144e-05	0.0001	0.0023	4.498e-05	3.514e-05	0.0013	0.0010	0	0	0	0	0	0	0	1.47e-05	0	0.0023	0.455	0.08865	T	0.295	0.20680	T	0.001	0.07471	B	0.001	0.04355	B	0.000900	0.41231	D	0.261765	0.999999	0.20864	N	1.38	0.34346	L	2.61	0.13095	T	-0.62	0.18248	N	0.364	0.40565	-1.0039	0.28785	T	0.024	0.10194	T	10	0.010383517	0.00231	T	0.004038	0.09618	T	0.036	0.09122	0.394	0.41935	0.319970858106	0.31615	0.37870602292442074	0.37785	0.0465891847188	0.05065	0.226485401392	0.01718	T	0.008516	0.07817	T	-0.556231	0.00267	T	-0.573554	0.15125	T	0.0231565928454924	0.01041	T	0.708229	0.31875	T	0.06295052	0.13203	0.052132517	0.08529	0.06295052	0.13202	0.052132517	0.08528	-3.805	0.20879	T	.	.	0.168	0.37044	B	.	.	1.671569	0.21314	15.14	0.21260234765219688	0.00802	0.56430	0.30115	D	AEFBI	0.061145	0.11670	N	-0.608449266771757	0.18689	0.9723336	-0.495862371588307	0.22267	1.208627	0.00327107136552542	0.10023	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	5.91	2.49	0.29274	1.904000	0.39498	2.370000	0.32424	0.676000	0.76740	0.971000	0.34370	0.369000	0.24559	0.860000	0.40782	0.1608:0.0:0.5361:0.3032	6.538	0.21562	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.007576	0.08333	1381.83	38	chr12	122582769	.	G	T	1381.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.971;DP=284;ExcessHet=0;FS=1.606;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.79;ReadPosRankSum=0.904;SOR=0.925	GT:AD:DP:GQ:PL	0/1:53,55:108:99:1392,0,1245	5	0	1	0
chr12	122859081	122859081	G	C	exonic	HIP1R	.	nonsynonymous SNV	HIP1R:NM_003959:exon22:c.G2179C:p.E727Q	.	405	1114	2	1	0	4	0.00179211	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.057	.	.	0.00339457	0.0032	0	0	0	0	0	0	0.0175	0.0016947	262	154602	rs376345720	0.0009	0.0009	0.0005	0.0013	0.0138	0.0008	0.0008	0.0132	0.0129	6.009e-05	4.584e-05	0	5.088e-05	1.94e-05	0.0005	6.314e-06	0.0014	0.0138	0.0006	0.0006	0.0003	0.0009	0.0181	0.0005	0.0005	0.0150	0.0139	4.817e-05	0	0	0	0	0	0	1.471e-05	0	0.0181	1.0	0.00964	T	0.727	0.05221	T	0.012	0.16265	B	0.007	0.12992	B	0.000055	0.53742	D	0.197970	0.998104	0.44513	D	0.765	0.19305	N	2.61	0.13095	T	-0.04	0.07590	N	0.174	0.18649	-1.0729	0.08787	T	0.027	0.11441	T	10	0.010240227	0.00229	T	.	.	.	0.057	0.16321	0.264	0.20946	0.149567049428	0.14543	0.2415942776173896	0.24073	0.0926343724949	0.10456	0.445106774569	0.31276	T	0.062023	0.31806	T	-0.606425	0.00133	T	-0.632187	0.10250	T	0.034111445258388	0.02657	T	0.729427	0.34485	T	0.13527437	0.31401	0.08169845	0.18589	0.13527437	0.31401	0.08169845	0.18588	-3.4	0.15057	T	.	.	0.098	0.16054	B	.	.	2.720462	0.35583	19.94	0.85292725646982259	0.15803	0.96550	0.69701	D	AEFDBI	0.629981	0.61150	D	-0.224162301642529	0.32144	1.810	-0.0191525478594633	0.38851	2.294883	0.999999435049272	0.74766	0.67177	0.52595	0	0.550933	0.16991	0	0.645312	0.48771	0	0.711	0.71501	0	.	.	5.15	5.15	0.70287	3.137000	0.50257	8.234000	0.76841	0.658000	0.54486	1.000000	0.71638	1.000000	0.68203	0.840000	0.39645	0.0:0.0:1.0:0.0	15.537	0.75745	314	0.87270	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002028	0.000000	0.000000	0.002976	0.000000	0.000000	0.000000	0.003788	0.08333	1055.83	37	chr12	122859081	.	G	C	1055.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.435;DP=257;ExcessHet=0;FS=1.021;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=16.76;ReadPosRankSum=-0.255;SOR=0.54	GT:AD:DP:GQ:PL	0/1:21,42:63:99:1066,0,474	5	0	1	0
chr12	123937452	123937452	G	A	exonic	CCDC92	.	nonsynonymous SNV	CCDC92:NM_001304961:exon4:c.C551T:p.T184M,CCDC92:NM_001304957:exon5:c.C602T:p.T201M,CCDC92:NM_001304959:exon5:c.C602T:p.T201M,CCDC92:NM_025140:exon5:c.C602T:p.T201M,CCDC92:NM_001304958:exon6:c.C602T:p.T201M,CCDC92:NM_001304960:exon7:c.C602T:p.T201M	.	.	.	.	.	.	.	.	.	.	.	2213579	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.255	0.0750063105051	0.0003	0.000399361	0.0002	0	0	0	0	0.0002	0	0.0007	0.000207	32	154602	rs150284078	0.0002	0.0002	0.0002	0.0002	0.0005	0.0002	0.0002	0.0004	0.0004	2.987e-05	2.236e-05	0	0.0003	9.465e-05	0	0.0002	0.0001	0.0005	0.0002	0.0002	0.0001	0.0002	0.0015	0.0001	9.7e-05	0.0007	0.0005	7.219e-05	0	6.534e-05	0	0.0002	0.0002	0	0.0002	0	0.0015	0.003	0.68238	D	0.002	0.79402	D	1.0	0.90584	D	0.996	0.84481	D	0.000003	0.62929	D	0.104360	0.999997	0.58761	D	2.16	0.60381	M	1.75	0.26152	T	-2.09	0.47683	N	0.442	0.57348	-0.9948	0.31352	T	0.111	0.39935	T	10	0.06377378	0.08357	T	0.075006	0.72181	D	0.255	0.56562	.	.	0.541692676538	0.53821	0.49065795055664313	0.48985	1.05361816438	0.76248	0.680387675762	0.64324	T	0.042084	0.26068	T	-0.196876	0.21255	T	-0.159781	0.58372	T	0.148719012737274	0.17001	T	.	.	.	0.13207342	0.30765	0.16240856	0.37727	0.13207342	0.30765	0.16240856	0.37726	-5.063	0.37516	T	.	.	0.384	0.58646	A	.;.;.	.;.;.	5.355637	0.89828	31	0.99884527279583468	0.95970	0.97850	0.77597	D	AEFDBI	0.837847	0.75543	D	0.49348334466902	0.66706	4.985214	0.470104944766234	0.66018	4.897743	0.999999990651072	0.74766	0.706298	0.61202	0	0.709663	0.81188	0	0.576033	0.28219	0	0.714379	0.83352	0	.	.	5.56	4.67	0.58089	7.432000	0.79528	11.519000	0.93038	0.590000	0.31872	1.000000	0.71638	1.000000	0.68203	0.705000	0.34296	0.071:0.0:0.929:0.0	14.366	0.66368	754	0.51307	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1207.83	36	chr12	123937452	.	G	A	1207.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.968;DP=279;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.85;ReadPosRankSum=1.66;SOR=0.613	GT:AD:DP:GQ:PL	0/1:47,47:94:99:1218,0,1191	5	0	1	0
chr12	131756617	131756617	A	G	exonic	SFSWAP	.	nonsynonymous SNV	SFSWAP:NM_001261411:exon11:c.A1693G:p.T565A,SFSWAP:NM_004592:exon11:c.A1693G:p.T565A	.	429	1049	43	1	0	45	0.0209986	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009	.	0.0036	0.00658946	0.0081	0.0008	0.0040	0.0001	0.0002	0.0068	0.0097	0.0310	0.0069792	1079	154602	rs145713017	0.0068	0.0067	0.0060	0.0075	0.0267	0.0066	0.0066	0.0257	0.0254	0.0009	0.0035	0.0129	5.067e-05	0.0003	0.0131	0.0059	0.0077	0.0267	0.0043	0.0043	0.0041	0.0045	0.0232	0.0040	0.0039	0.0198	0.0184	0.0010	0	0.0024	0.0147	0	0.0004	0.0102	0.0057	0.0057	0.0232	0.649	0.06779	T	0.784	0.05488	T	0.0	0.02946	B	0.0	0.01387	B	0.543757	0.05329	N	1.222960	1	0.08975	N	0.55	0.14455	N	2.98	0.09356	T	-0.82	0.22508	N	0.057	0.02861	-0.9893	0.32778	T	0.018	0.07565	T	10	0.003207326	0.00054	T	.	.	.	0.009	0.00846	.	.	0.246926113748	0.24311	0.06098012363249152	0.06038	0.433426700291	0.43500	0.341311901808	0.16635	T	0.045552	0.27157	T	-0.663629	0.00060	T	-0.706436	0.05481	T	0.00248593843203346	0.00026	T	0.407159	0.12198	T	0.021300873	0.00725	0.019259317	0.00083	0.021300873	0.00725	0.019259317	0.00083	-2.676	0.07103	T	.	.	0.057	0.01143	B	.;.	.;.	-0.337826	0.02456	0.282	0.50248361701415034	0.04351	0.01620	0.05236	N	AEFDBI	0.018817	0.00600	N	-1.52238196200166	0.01703	0.07453626	-1.55110784914675	0.01968	0.08988614	0.0111596481021623	0.12139	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.34	-3.66	0.04200	-0.421000	0.07118	1.784000	0.28742	-0.057000	0.16691	0.000000	0.06391	0.009000	0.19889	0.008000	0.08271	0.2274:0.0973:0.5789:0.0964	5.562	0.16433	982	0.03397	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.008595	0.000000	0.006793	0.000000	0.000000	0.017241	0.012346	0.019084	0.08333	447.83	36	chr12	131756617	.	A	G	447.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.2;DP=233;ExcessHet=0;FS=4.18;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=8.61;ReadPosRankSum=-0.655;SOR=1.329	GT:AD:DP:GQ:PL	0/1:34,18:52:99:458,0,909	5	0	1	0
chr13	31274581	31274581	G	A	exonic	B3GLCT	.	nonsynonymous SNV	B3GLCT:NM_194318:exon9:c.G733A:p.V245M	Peters-plus syndrome, Autosomal recessive	0	1483	38	1	0	40	0.0133067	.	.	.	102523	Peters_plus_syndrome|not_provided|not_specified	MONDO:MONDO:0009856,MedGen:C0796012,OMIM:261540,Orphanet:709|MedGen:C3661900|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.061	.	0.0053	0.00439297	0.0070	0.0014	0.0029	0	0.0026	0.0091	0.0099	0.0099	0.0068369	1057	154602	rs34830061	0.0070	0.0070	0.0069	0.0071	0.0121	0.0069	0.0068	0.0099	0.0090	0.0012	0.0032	0.0153	7.558e-05	0.0036	0.0121	0.0073	0.0066	0.0092	0.0050	0.0050	0.0051	0.0050	0.0097	0.0047	0.0046	0.0075	0.0067	0.0013	0.0208	0.0027	0.0193	0	0.0028	0.0034	0.0072	0.0071	0.0097	0.136	0.26085	T	0.106	0.37872	T	0.069	0.23796	B	0.009	0.14300	B	0.451778	0.12498	N	0.768332	1	0.08975	N	0.46	0.12951	N	-0.64	0.72125	T	0.14	0.05405	N	0.179	0.19325	-0.9055	0.47389	T	0.170	0.51052	T	10	0.0038720667	0.00073	T	.	.	.	0.061	0.17616	.	.	0.498513350342	0.49487	0.4227196399436346	0.42188	0.222872868779	0.24819	0.271227419376	0.06302	T	0.037088	0.24346	T	-0.501488	0.00561	T	-0.48588	0.23824	T	0.000223777613944911	0.00001	T	0.647135	0.25820	T	0.021001458	0.00681	0.027739998	0.00950	0.021001458	0.00681	0.027739998	0.00950	-4.006	0.23893	T	0.11511323578910222	0.10263	0.071	0.04002	B	.	.	0.603724	0.09722	6.491	0.91156191702256784	0.20411	0.04882	0.10625	N	AEFDBIJ	0.039290	0.05685	N	-0.785131843644018	0.13696	0.6766145	-0.833203669276532	0.13691	0.7116637	0.999959240786618	0.48110	0.732398	0.92422	0	0.588015	0.36545	0	0.653264	0.51672	0	0.727631	0.95156	0	.	.	5.62	1.84	0.24348	-0.220000	0.09220	0.271000	0.16657	0.676000	0.76740	0.000000	0.06391	0.000000	0.08366	0.121000	0.19209	0.0753:0.1312:0.389:0.4045	4.173	0.09798	934	0.15400	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	0.010070	0.010101	0.005435	0.008772	0.000000	0.017241	0.015244	0.015152	0.1667	2567.04	34	chr13	31274581	.	G	A	2567.04	.	AC=2;AF=0.167;AN=12;DP=262;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;QD=27.6;SOR=0.714	GT:AD:DP:GQ:PL	1/1:0,93:93:99:2587,278,0	5	1	0	0
chr13	42303097	42303097	G	C	exonic	AKAP11	.	nonsynonymous SNV	AKAP11:NM_016248:exon8:c.G4351C:p.V1451L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.040	0.00348779331928	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001	0.0058	0.0001	0.0001	0.0004	0.0001	0.0001	0.0001	0.0001	0.0001	2.239e-05	0.0002	0.0001	0	0.0004	0.0002	0.0001	5.842e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.732	0.03787	T	0.652	0.06690	T	0.0	0.02946	B	0.0	0.01387	B	0.384222	0.04439	N	1.329080	1	0.08975	N	-0.695	0.01866	N	1.03	0.40469	T	0.12	0.05604	N	0.01	0.00095	-1.0487	0.14761	T	0.025	0.10553	T	10	0.03053692	0.01181	T	0.003488	0.07908	T	0.040	0.10527	0.282	0.23801	0.174091166621	0.17034	0.08873411500846382	0.08806	0.0437477432083	0.04714	0.247362196445	0.03495	T	0.00156	0.01004	T	-0.357409	0.04279	T	-0.75117	0.03440	T	0.0190869918422606	0.00616	T	0.254375	0.03921	T	0.018132178	0.00335	0.025108913	0.00546	0.018132178	0.00334	0.025108913	0.00545	-2.626	0.06703	T	.	.	0.106	0.19839	B	.	.	-0.851205	0.01010	0.042	0.27875280092314592	0.01405	0.12762	0.17464	N	AEFBCI	0.031390	0.03350	N	-1.67084211627419	0.00950	0.04116467	-1.65714055191059	0.01339	0.06045885	0.999931029354219	0.46732	0.706548	0.73137	0	0.702456	0.74545	0	0.65145	0.50148	0	0.714379	0.83352	0	.	.	5.98	-6.75	0.01575	0.231000	0.17651	-0.238000	0.10617	-0.111000	0.15049	0.000000	0.06391	0.000000	0.08366	0.011000	0.09372	0.2747:0.1624:0.2842:0.2787	0.459	0.00478	675	0.60470	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.4167	1267.52	115	chr13	42303097	.	G	C	1267.52	.	AC=5;AF=0.417;AN=12;BaseQRankSum=-3.834;DP=634;ExcessHet=6.1542;FS=339.863;MLEAC=5;MLEAF=0.417;MQ=60;MQRankSum=0;QD=2.67;ReadPosRankSum=0.639;SOR=10.364	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:66,24:90:99:.:.:155,0,1698:.	1	0	5	0
chr13	44575588	44575588	T	C	exonic	TSC22D1	.	nonsynonymous SNV	TSC22D1:NM_001243799:exon1:c.A487G:p.T163A,TSC22D1:NM_183422:exon1:c.A487G:p.T163A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.104	0.0089068379871	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.368e-06	2.052e-06	0	2.75e-06	0.0003	2.3e-07	9e-08	6.137e-05	2.538e-05	0	0	0	0	0	0.0003	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.006	0.78490	D	0.077	0.51737	T	0.473	0.36591	P	0.091	0.29943	B	0.000032	0.55875	D	0.000000	0.877543	0.35684	D	1.04	0.26193	L	1.89	0.23688	T	-3.12	0.63782	D	0.405	0.50778	-0.9944	0.31459	T	0.057	0.23828	T	10	0.27201664	0.44743	T	0.008907	0.23487	T	0.104	0.29647	0.094	0.01195	0.102598925029	0.09809	0.44049624143025085	0.43966	0.41328724842	0.42041	0.63636803627	0.58048	T	0.580217	0.86242	D	-0.201847	0.20537	T	-0.527716	0.19515	T	0.970675647258759	0.69035	D	0.835216	0.50504	T	0.4204596	0.62122	0.43167654	0.66778	0.4204596	0.62123	0.43167654	0.66778	-9.781	0.72589	D	.	.	0.407	0.59992	A	.;.	.;.	4.531457	0.71134	25.6	0.99645077745843169	0.76943	0.77694	0.38231	D	AEFDBCIJ	0.666138	0.63470	D	0.194900403804477	0.50955	3.280676	0.284035049454627	0.54608	3.625185	0.99999987796852	0.74766	0.627647	0.40530	0	0.706955	0.78570	0	0.685571	0.62057	0	0.657601	0.63696	0	.	.	4.5	4.5	0.54382	6.224000	0.72210	7.884000	0.72673	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:0.0:1.0	12.769	0.56785	920	0.19381	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.1667	2051.04	34	chr13	44575588	.	T	C	2051.04	.	AC=2;AF=0.167;AN=12;DP=232;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;QD=33.62;SOR=1.022	GT:AD:DP:GQ:PL	1/1:0,61:61:99:2071,183,0	5	1	0	0
chr13	48477385	48477385	G	T	exonic	RB1	.	nonsynonymous SNV	RB1:NM_000321:exon26:c.G2694T:p.Q898H	Bladder cancer, somatic;Osteosarcoma, somatic;Retinoblastoma, Autosomal dominant, Somatic mutation;Retinoblastoma, trilateral, Autosomal dominant, Somatic mutation;Small cell cancer of the lung, somatic	2	1519	1	0	0	1	0.000329056	.	.	.	463700	Malignant_tumor_of_urinary_bladder|Retinoblastoma|Hereditary_cancer-predisposing_syndrome	MONDO:MONDO:0001187,MedGen:C0005684,OMIM:109800,Orphanet:157980|Human_Phenotype_Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200,Orphanet:790|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.131	0.0289570853398	.	.	1.749e-05	0	0	0	0	0	0	0.0001	1.29e-05	2	154602	rs757275103	4.807e-06	4.789e-06	2.735e-06	6.899e-06	8.132e-05	2e-06	1.29e-06	3.772e-05	2.666e-05	0	0	0	0	0	0	0	0	8.132e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.16	0.23721	T	0.195	0.28032	T	0.15	0.27995	B	0.134	0.33146	B	0.000722	0.42129	D	0.209202	0.599486	0.30952	N	0.755	0.19153	N	-1.39	0.80387	T	-1.01	0.26639	N	0.209	0.23253	-0.8140	0.54306	T	0.234	0.60075	T	10	0.1258696	0.23923	T	0.028957	0.51551	D	0.131	0.35738	0.444	0.50139	0.7378913793	0.73554	0.2456209694075643	0.24476	0.723459180675	0.62336	0.62892127037	0.56991	T	0.425313	0.77547	T	-0.2138	0.18848	T	-0.363358	0.37662	T	0.106003314256668	0.13005	T	0.80432	0.45191	T	0.05915922	0.11989	0.054509163	0.09390	0.05915922	0.11988	0.054509163	0.09390	-5.312	0.40062	T	.	.	0.429	0.61151	A	.;.	.;.	1.326333	0.17311	13.09	0.95432419462589146	0.26927	0.52540	0.29156	D	AEFDGBHCI	0.409576	0.48080	N	-0.705844961585747	0.15857	0.8028739	-0.605690973366811	0.19346	1.037575	0.99990251090817	0.45458	0.75658	0.98901	0	0.858454	0.99946	0	0.659464	0.59346	0	0.613276	0.41899	0	.	.	5.11	-0.334	0.12038	0.103000	0.15128	0.253000	0.16451	-0.116000	0.14526	0.936000	0.32490	0.284000	0.24125	0.928000	0.46473	0.5119:0.1407:0.3475:0.0	5.657	0.16922	717	0.55835	Retinoblastoma-associated protein, C-terminal|Retinoblastoma-associated protein, C-terminal;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	726.83	32	chr13	48477385	.	G	T	726.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.789;DP=222;ExcessHet=0;FS=1.083;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.25;ReadPosRankSum=-0.986;SOR=0.754	GT:AD:DP:GQ:PL	0/1:21,30:51:99:737,0,487	5	0	1	0
chr13	51816810	51816810	G	T	exonic	TMEM272	.	nonsynonymous SNV	TMEM272:NM_001351006:exon3:c.C307A:p.L103M,TMEM272:NM_001351005:exon4:c.C274A:p.L92M,TMEM272:NM_001351003:exon5:c.C505A:p.L169M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.17271072	0.32059	T	.	.	.	.	.	.	.	.	.	0.051117184810560004	0.05053	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.358964	0.08219	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.132	0.28550	B	.	.	2.288814	0.29275	18.07	0.68002226704289603	0.08525	0.31764	0.24419	N	AEFDBCI	.	.	.	.	.	.	.	.	.	0.999976183753122	0.50053	0.074388	0.01536	0	0.060609	0.00678	0	0.091713	0.02954	0	0.075334	0.01956	0	0.0786194	0.18004	4.25	2.1	0.26226	1.962000	0.40066	3.122000	0.36404	0.596000	0.33519	0.282000	0.25160	0.233000	0.23797	0.231000	0.22761	0.4864:0.0:0.5136:0.0	3.851	0.08463	861	0.33516	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.125	30.11	6	chr13	51816810	.	G	T	30.11	.	AC=1;AF=0.125;AN=8;BaseQRankSum=0;DP=12;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.125;MQ=60;MQRankSum=0;QD=7.53;ReadPosRankSum=-0.674;SOR=0.693	GT:AD:DP:GQ:PL	0/1:2,2:4:37:37,0,37	3	0	1	2
chr13	52030581	52030581	A	T	exonic	UTP14C	.	nonsynonymous SNV	UTP14C:NM_021645:exon2:c.A1777T:p.M593L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.016	0.00116321733576	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.743	0.03663	T	0.738	0.05018	T	0.001	0.07471	B	0.006	0.12133	B	0.009416	0.30373	N	0.417664	0.53421	0.31465	N	0.535	0.13693	N	2.73	0.11839	T	-0.17	0.09627	N	0.25	0.28264	-1.0002	0.29860	T	0.016	0.06521	T	9	0.055054605	0.05957	T	0.001163	0.01459	T	0.016	0.02506	0.454	0.51775	0.223146558224	0.21909	0.22648224736011335	0.22563	0.0719151048525	0.08059	0.363549977541	0.19902	T	0.003077	0.02473	T	-0.216275	0.18504	T	-0.54844	0.17476	T	0.0577853694558144	0.06815	T	0.878412	0.59357	D	0.051552743	0.09483	0.04597765	0.06306	0.051552743	0.09482	0.04597765	0.06306	-3.212	0.12628	T	.	.	0.125	0.26325	B	.	.	1.537712	0.19722	14.41	0.90010348218005121	0.19300	0.36393	0.25523	N	AEFDBCI	0.079605	0.16082	N	-0.589981697328776	0.19248	1.005879	-0.473934389445712	0.22875	1.244648	0.0582973966213139	0.15122	0.732398	0.92422	0	0.653731	0.59785	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	2.9	1.47	0.21832	1.215000	0.32035	1.160000	0.24546	0.665000	0.62972	1.000000	0.71638	0.003000	0.18671	0.980000	0.58198	0.778:0.0:0.222:0.0	5.166	0.14414	593	0.68665	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	1300.83	38	chr13	52030581	.	A	T	1300.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.257;DP=295;ExcessHet=0;FS=0.749;MLEAC=1;MLEAF=0.083;MQ=58.34;MQRankSum=-0.155;QD=13.14;ReadPosRankSum=-2.784;SOR=0.813	GT:AD:DP:GQ:PL	0/1:48,51:99:99:1311,0,1331	5	0	1	0
chr13	77698966	77698966	C	A	exonic	SLAIN1	.	nonsynonymous SNV	SLAIN1:NM_001040153:exon1:c.C43A:p.R15S,SLAIN1:NM_001366665:exon1:c.C43A:p.R15S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	0.00485041082112	.	.	.	.	.	.	.	.	.	.	.	.	.	rs927239856	1.23e-05	1.231e-05	9.998e-06	1.466e-05	0.0002	7.49e-06	6.13e-06	6.24e-05	4.051e-05	0.0002	0	0	0	0	0	2.781e-06	0.0002	0	4.598e-05	4.594e-05	2.57e-05	6.717e-05	0.0002	2.108e-05	1.526e-05	7.876e-05	5.578e-05	0.0002	0	0	0	0	0	0	0	0	0	0.087	0.32453	T	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	-0.3	0.11913	N	0.067	0.03956	-1.0164	0.24884	T	0.068	0.27913	T	7	0.058128625	0.06787	T	0.00485	0.12161	T	0.014	0.01968	0.38	0.39645	0.043077524339	0.03247	.	.	0.446009560045	0.44480	.	.	.	.	.	.	-0.373511	0.03420	T	-0.774299	0.02629	T	0.0579173588349018	0.06836	T	0.332167	0.06971	T	.	.	.	.	.	.	.	.	-2.149	0.03800	T	.	.	0.385	0.58727	A	.	.	0.737949	0.11073	7.724	0.85563134487535208	0.15971	0.02587	0.07144	N	ALL	0.066974	0.13142	N	-1.16971078515615	0.05463	0.2491146	-1.26977585491886	0.04845	0.2295157	0.999999999987094	0.74766	0.56387	0.32371	0	0.374146	0.05931	1	0.449817	0.06638	2	0.618803	0.45993	0	.	.	4.6	-2.86	0.05376	-1.138000	0.03327	-0.981000	0.06712	-0.176000	0.10722	0.000000	0.06391	0.000000	0.08366	0.136000	0.19798	0.0:0.3492:0.1373:0.5135	6.099	0.19262	136	0.94604	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	1059.83	38	chr13	77698966	.	C	A	1059.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.399;DP=264;ExcessHet=0;FS=2.797;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.32;ReadPosRankSum=0.812;SOR=0.456	GT:AD:DP:GQ:PL	0/1:42,44:86:99:1070,0,1019	5	0	1	0
chr13	102738219	102738219	C	G	exonic	CCDC168	.	nonsynonymous SNV	CCDC168:NM_001146197:exon4:c.G12478C:p.V4160L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.167e-05	0.0022	6.326e-05	3.979e-05	6.248e-05	4.177e-05	3.835e-05	5.038e-05	4.595e-05	0	2.807e-05	0	0	0	0	6.248e-05	3.499e-05	2.541e-05	1.334e-05	2.64e-05	1.303e-05	1.368e-05	1.486e-05	2.22e-06	8.3e-07	.	.	0	0	0	0	0	9.686e-05	0	1.486e-05	0	0	.	.	.	0.068	0.44106	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.18	0.19459	.	.	.	.	.	.	.	0.09865704	0.17852	T	.	.	.	.	.	.	.	0.0806252709748	0.07271	0.022759760475440007	0.02227	.	.	0.381038725376	0.22403	T	.	.	.	-0.129836	0.31521	T	-0.424277	0.30586	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.349	0.56507	A	.	.	0.179806	0.05674	2.123	0.42346026630768363	0.03115	0.07449	0.13466	N	AEFBI	.	.	.	.	.	.	.	.	.	0.921212253802681	0.26663	0.06567	0.01388	0	0.059962	0.00310	0	0.063197	0.01477	0	0.075334	0.01956	0	0.0512898	0.10407	3.08	0.322	0.15131	1.882000	0.39283	-0.398000	0.09429	0.454000	0.21428	0.029000	0.20367	0.000000	0.08366	0.017000	0.10941	0.0:0.5804:0.0:0.4196	5.169	0.14429	951	0.11083	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.125	150.7	152	chr13	102738219	.	C	G	150.7	.	AC=1;AF=0.125;AN=8;BaseQRankSum=-5.16;DP=787;ExcessHet=0;FS=431.136;MLEAC=1;MLEAF=0.125;MQ=60;MQRankSum=0;QD=1.04;ReadPosRankSum=2.63;SOR=9.087	GT:AD:DP:GQ:PL	0/1:103,42:151:99:159,0,2572	3	0	1	2
chr13	113799342	113799342	C	G	exonic	TMEM255B	.	nonsynonymous SNV	TMEM255B:NM_001348663:exon5:c.C346G:p.P116A,TMEM255B:NM_182614:exon5:c.C346G:p.P116A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.077	0.00817844347348	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.261	0.16520	T	0.123	0.35582	T	0.204	0.29802	B	0.115	0.31843	B	.	.	.	.	0.997514	0.22627	N	2.4	0.69460	M	0.9	0.45248	T	-2.04	0.46842	N	0.264	0.48042	-1.0099	0.26949	T	0.116	0.40919	T	9	0.08783275	0.15067	T	0.008178	0.21674	T	0.077	0.22490	0.282	0.23801	0.110078149338	0.10416	0.4651065259748013	0.46429	0.243769190968	0.26884	0.359801411629	0.19356	T	0.044351	0.26789	T	-0.12358	0.32538	T	-0.41529	0.31616	T	0.193327065845335	0.20039	T	0.89811	0.64401	D	0.045925796	0.07601	0.07236086	0.15604	0.045925796	0.07601	0.07236086	0.15603	-6.285	0.48603	T	.	.	0.128	0.30476	B	.;.	.;.	0.618465	0.09867	6.630	0.98564149052426309	0.43012	0.29334	0.23794	N	AEFDBI	0.096032	0.19393	N	-0.651081078744022	0.17429	0.8967721	-0.698390219134829	0.17001	0.9019953	0.891160996300393	0.25853	0.706548	0.73137	0	0.573888	0.26702	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	4.35	2.55	0.29757	1.819000	0.38660	1.452000	0.26614	0.515000	0.23462	0.004000	0.16614	0.001000	0.17328	0.045000	0.14751	0.3154:0.6845:0.0:0.0	11.793	0.51352	940	0.13648	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	561.83	35	chr13	113799342	.	C	G	561.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.736;DP=215;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.41;ReadPosRankSum=-0.943;SOR=0.648	GT:AD:DP:GQ:PL	0/1:16,23:39:99:572,0,393	5	0	1	0
chr14	37546951	37546951	A	G	exonic	MIPOL1	.	nonsynonymous SNV	MIPOL1:NM_138731:exon14:c.A1309G:p.T437A,MIPOL1:NM_001195296:exon15:c.A1309G:p.T437A,MIPOL1:NM_001195297:exon15:c.A1309G:p.T437A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.077	0.0188765864035	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1181664065	2.053e-06	2.052e-06	0	4.127e-06	2.699e-06	5.5e-07	1.5e-07	7.2e-07	2e-07	0	0	0	0	0	0	2.699e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	0.56456	D	0.033	0.55759	D	0.264	0.31602	B	0.124	0.32546	B	0.019623	0.27215	N	0.353536	0.997099	0.22793	N	1.79	0.46772	L	0.72	0.50976	T	-1.02	0.26843	N	0.088	0.14054	-0.9888	0.32903	T	0.097	0.36471	T	10	0.14235258	0.27039	T	0.018877	0.41084	T	0.077	0.22490	0.2	0.11384	0.567966986597	0.56460	0.3683352083514824	0.36747	0.140266988848	0.15812	0.365459948778	0.20178	T	0.064191	0.32370	T	-0.0709965	0.41167	T	-0.339758	0.40372	T	0.566728559229715	0.35110	D	0.579642	0.20943	T	0.040852066	0.05909	0.0536786	0.09090	0.040852066	0.05908	0.0536786	0.09089	-6.547	0.50648	T	.	.	0.094	0.14339	B	.;.;.;.	.;.;.;.	3.061257	0.41109	21.3	0.99642561245778771	0.76756	0.59532	0.30941	D	ALL	0.179336	0.30663	N	-0.113712474523953	0.36796	2.131738	-0.013957762809401	0.39083	2.312047	0.999999999999984	0.74766	0.706548	0.73137	0	0.573888	0.26702	0	0.659464	0.59346	0	0.714379	0.83352	0	.	.	5.96	2.24	0.27264	2.730000	0.47007	1.863000	0.29335	0.756000	0.94297	1.000000	0.71638	0.468000	0.25038	0.996000	0.76049	0.6976:0.1224:0.0632:0.1167	4.987	0.13538	664	0.61548	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	753.83	34	chr14	37546951	.	A	G	753.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.45;DP=236;ExcessHet=0;FS=8.463;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=16.04;ReadPosRankSum=0.911;SOR=0.966	GT:AD:DP:GQ:PL	0/1:19,28:47:99:764,0,441	5	0	1	0
chr14	37841589	37841589	T	C	exonic	TTC6	.	nonsynonymous SNV	TTC6:NM_001368142:exon12:c.T1345C:p.W449R,TTC6:NM_001310135:exon32:c.T5491C:p.W1831R	.	439	1073	9	1	0	11	0.00509968	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.398	0.0226382290152	0.0035	0.00259585	0.0025	0.0075	0.0017	0	0.0032	0.0025	0.0034	0.0011	0.0023868	369	154602	rs61740232	0.0015	0.0015	0.0015	0.0015	0.0098	0.0015	0.0014	0.0077	0.0071	0.0082	0.0015	0.0026	0	0.0029	0.0098	0.0012	0.0020	0.0012	0.0033	0.0033	0.0034	0.0032	0.0073	0.0031	0.0030	0.0067	0.0064	0.0073	0	0.0029	0.0046	0	0.0022	0.0102	0.0015	0.0009	0.0012	0.36	0.11919	T	0.015	0.61642	D	0.997	0.70673	D	0.963	0.70837	D	0.000137	0.49741	D	0.078270	.	.	.	0.48	0.13178	N	0.05	0.61923	T	-3.98	0.84457	D	0.856	0.85238	-0.6310	0.63528	T	0.202	0.55933	T	9	0.008994997	0.00203	T	0.022638	0.45547	T	0.398	0.71242	0.608	0.74063	0.79643058766	0.79453	.	.	0.296570310644	0.32047	0.548822760582	0.45691	T	0.086838	0.39135	T	-0.260193	0.12877	T	-0.14182	0.59961	T	0.0297972776879124	0.01957	T	0.725927	0.34027	T	0.51988053	0.68252	0.5044012	0.71353	0.51988053	0.68253	0.5044012	0.71354	-3.335	0.14193	T	.	.	0.701	0.73016	P	.;.;.;.	.;.;.;.	3.694143	0.52654	23.3	0.9777056866550965	0.35869	0.91010	0.52685	D	AEFI	0.691642	0.65157	D	0.398751544099521	0.61355	4.335398	0.42698762271908	0.63251	4.555332	0.999983345540698	0.51787	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.36	5.36	0.76624	5.147000	0.64694	7.820000	0.69717	0.647000	0.52776	1.000000	0.71638	1.000000	0.68203	0.967000	0.53440	0.0:0.0:0.0:1.0	13.889	0.63228	578	0.69858	Tetratricopeptide repeat-containing domain;Tetratricopeptide repeat-containing domain;Tetratricopeptide repeat-containing domain;Tetratricopeptide repeat-containing domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	341.83	33	chr14	37841589	.	T	C	341.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.665;DP=208;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=8.55;ReadPosRankSum=-1.426;SOR=0.773	GT:AD:DP:GQ:PL	0/1:23,17:40:99:352,0,603	5	0	1	0
chr14	52038828	52038828	C	T	exonic	NID2	.	nonsynonymous SNV	NID2:NM_007361:exon9:c.G2176A:p.V726M	.	425	1095	2	0	0	2	0.000912409	.	.	.	2810421	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.080	.	0.0042	0.000998403	0.0043	0.0009	0.0004	0	0.0133	0.0060	0.0077	0.0005	0.0042755	661	154602	rs35147930	0.0051	0.0051	0.0051	0.0051	0.0057	0.0050	0.0049	0.0056	0.0055	0.0006	0.0005	0.0020	0	0.0132	0.0009	0.0057	0.0038	0.0008	0.0042	0.0042	0.0040	0.0045	0.0065	0.0040	0.0039	0.0060	0.0058	0.0008	0.0022	0.0008	0.0032	0.0002	0.0128	0.0034	0.0065	0.0033	0.0004	0.117	0.28271	T	0.173	0.31326	T	1.0	0.90584	D	0.913	0.64886	D	0.000000	0.84330	D	0.050316	0.975929	0.39231	D	2.045	0.56016	M	1.58	0.29085	T	-1.94	0.45042	N	0.271	0.38848	-0.7799	0.56308	T	0.144	0.46750	T	10	0.007125318	0.00162	T	.	.	.	0.172	0.43662	.	.	0.618703310563	0.61561	0.3708556932472328	0.36999	0.451365656779	0.44884	0.610292315483	0.54357	T	0.208649	0.56864	T	-0.302387	0.08436	T	-0.196747	0.54955	T	0.0161752719416806	0.00392	T	0.907309	0.67223	D	0.10030298	0.23683	0.11063015	0.26677	0.10030298	0.23683	0.11063015	0.26676	-8.821	0.66538	D	.	.	0.321	0.54573	B	.;.	.;.	3.208029	0.43659	21.8	0.99815902589045236	0.89885	0.90301	0.51368	D	AEFBI	0.228973	0.35257	N	0.44057203458871	0.63670	4.605323	0.388323099863335	0.60845	4.276747	0.999969143106219	0.48965	0.638212	0.43195	0	0.59043	0.45803	0	0.653264	0.51672	0	0.567892	0.33627	0	.	.	6.17	5.29	0.74430	2.768000	0.47329	4.867000	0.45528	0.594000	0.32500	0.987000	0.36337	0.986000	0.30841	0.531000	0.29730	0.0:0.9331:0.0:0.0669	15.444	0.74935	899	0.25060	G2 nidogen/fibulin G2F|G2 nidogen/fibulin G2F|G2 nidogen/fibulin G2F;G2 nidogen/fibulin G2F|G2 nidogen/fibulin G2F|G2 nidogen/fibulin G2F	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.001511	0.000000	0.002717	0.000000	0.000000	0.000000	0.000000	0.003788	0.1667	2083.04	37	chr14	52038828	.	C	T	2083.04	.	AC=2;AF=0.167;AN=12;DP=245;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;QD=28.53;SOR=0.776	GT:AD:DP:GQ:PL	1/1:0,73:73:99:2103,219,0	5	1	0	0
chr14	58213644	58213644	T	C	exonic	ACTR10	.	nonsynonymous SNV	ACTR10:NM_018477:exon6:c.T464C:p.I155T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.324	0.0362747916202	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0.0026	0.0003	0.0002	0.0003	0.0002	0.0002	0.0003	0.0003	0.0002	0	8.123e-05	7.948e-05	1.955e-05	0	0.0003	0.0002	7.24e-05	6.639e-06	2.641e-05	0	1.359e-05	1.482e-05	0	0	.	.	0	0	0	0	0	0	0	1.482e-05	0	0	0.35	0.12305	T	0.45	0.12957	T	0.0	0.02946	B	0.001	0.04355	B	0.000051	0.53742	D	0.197305	0.974077	0.39075	D	0.06	0.08197	N	-3.44	0.94428	D	-1.31	0.32791	N	0.456	0.49328	0.114	0.84424	D	0.666	0.88403	D	10	0.36079857	0.52715	T	0.036275	0.56887	D	0.324	0.64624	0.434	0.48500	0.993195394259	0.99311	0.5930593215126997	0.59235	0.374889918543	0.38946	0.782578408718	0.79317	T	0.399172	0.75708	T	0.0213512	0.54564	T	-0.207107	0.53971	T	0.59854531288147	0.36343	D	0.833317	0.50212	T	0.060931925	0.12560	0.09373129	0.22154	0.060931925	0.12560	0.09373129	0.22154	-5.421	0.41121	T	.	.	0.486	0.63951	A	.	.	3.186553	0.43278	21.7	0.8580340382623457	0.16122	0.91508	0.53678	D	AEFBI	0.213280	0.33888	N	-0.111420387238393	0.36894	2.138883	0.0755270437198708	0.43321	2.636326	0.9557581108309	0.28208	0.732398	0.92422	0	0.743671	0.97443	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	5.8	5.8	0.92081	4.582000	0.60668	7.707000	0.66598	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.500000	0.29017	0.0:0.0786:0.0:0.9214	9.930	0.40688	881	0.29269	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4167	442.52	21	chr14	58213644	.	T	C	442.52	.	AC=5;AF=0.417;AN=12;BaseQRankSum=-2.935;DP=298;ExcessHet=6.1542;FS=360.341;MLEAC=5;MLEAF=0.417;MQ=60;MQRankSum=0;QD=1.66;ReadPosRankSum=1.36;SOR=9	GT:AD:DP:GQ:PL	0/1:29,18:47:46:46,0,423	1	0	5	0
chr14	60469597	60469597	T	C	exonic	C14orf39	.	nonsynonymous SNV	C14orf39:NM_174978:exon8:c.A611G:p.K204R	.	813	707	2	0	0	2	0.00141243	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.026	.	.	0.00299521	0.0011	0	0	0.0001	0	4.803e-05	0.0012	0.0078	0.0009185	142	154602	rs535593448	0.0004	0.0004	0.0002	0.0005	0.0060	0.0003	0.0003	0.0056	0.0054	0	0	0	2.704e-05	0	0.0017	2.452e-05	0.0004	0.0060	0.0003	0.0003	0.0002	0.0004	0.0093	0.0002	0.0002	0.0072	0.0064	0	0	0	0	0.0002	0	0	1.48e-05	0	0.0093	0.277	0.15665	T	0.61	0.07691	T	.	.	.	.	.	.	0.303803	0.14551	N	0.639362	0.99998	0.18612	N	.	.	.	1.84	0.24656	T	-0.8	0.22078	N	0.147	0.14905	-1.0276	0.21233	T	0.058	0.24204	T	10	0.004374087	0.00089	T	.	.	.	0.026	0.05648	0.218	0.13932	0.0762999501168	0.06990	0.03250415823271137	0.03198	0.0859514511941	0.09713	.	.	.	.	.	.	-0.612222	0.00123	T	-0.648884	0.09033	T	0.0460502777079839	0.04793	T	0.428457	0.11587	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.074	0.05188	B	.	.	1.962774	0.24933	16.58	0.98279435026145434	0.39842	0.45258	0.27498	N	AEFBI	0.084526	0.17131	N	-0.312882700716832	0.28658	1.582536	-0.226818007944013	0.30580	1.722975	1.30623734306304E-5	0.02871	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	4.86	1.02	0.19102	1.340000	0.33501	0.291000	0.16873	0.603000	0.45986	0.986000	0.36153	0.978000	0.30204	0.979000	0.57723	0.0:0.3639:0.0:0.6361	7.649	0.27501	299	0.88026	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	0.001511	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.007576	0.1667	657.04	19	chr14	60469597	.	T	C	657.04	.	AC=2;AF=0.167;AN=12;DP=114;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;QD=23.47;SOR=0.693	GT:AD:DP:GQ:PL	1/1:0,28:28:83:677,83,0	5	1	0	0
chr14	63313076	63313076	C	T	exonic	GPHB5	.	nonsynonymous SNV	GPHB5:NM_145171:exon3:c.G245A:p.R82Q	.	428	1066	26	2	0	30	0.013876	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0023	0.00379393	0.0062	0.0005	0.0004	0.0002	0.0042	0.0036	0.0108	0.0251	0.0036093	558	154602	rs202152731	0.0030	0.0030	0.0024	0.0036	0.0212	0.0029	0.0029	0.0204	0.0200	0.0002	0.0003	7.708e-05	0	0.0012	0.0073	0.0020	0.0033	0.0212	0.0022	0.0022	0.0017	0.0026	0.0193	0.0020	0.0019	0.0162	0.0150	9.637e-05	0	0.0005	0.0003	0	0.0021	0.0034	0.0029	0.0009	0.0193	.	.	.	0.111	0.37173	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.263	0.41261	.	.	.	.	.	.	.	0.008682966	0.00197	T	.	.	.	.	.	.	.	0.246215685461	0.24236	0.6783049580709183	0.67769	.	.	0.426724642515	0.28760	T	0.403791	0.76044	T	-0.294854	0.09153	T	-0.180718	0.56457	T	.	.	.	0.934107	0.75346	D	0.2452297	0.47479	0.48068875	0.69926	0.2452297	0.47479	0.48068875	0.69926	-4.988	0.36709	T	.	.	0.086	0.10835	B	.;.	.;.	3.807114	0.54888	23.5	0.91516162854793026	0.20791	0.95391	0.64536	D	AEFGBI	.	.	.	.	.	.	.	.	.	0.999999999913513	0.74766	0.080785	0.02172	0	0.096583	0.02683	0	0.060301	0.00762	0	0.075334	0.01956	0	0.983985	0.90998	5.85	5.85	0.93663	4.416000	0.59567	1.106000	0.24114	0.599000	0.40250	0.998000	0.41325	0.668000	0.26052	1.000000	0.97212	0.0:1.0:0.0:0.0	20.159	0.98128	834	0.38640	Glycoprotein hormone subunit beta;Glycoprotein hormone subunit beta	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.006048	0.000000	0.004076	0.005848	0.000000	0.000000	0.003067	0.015152	0.1667	3469.04	34	chr14	63313076	.	C	T	3469.04	.	AC=2;AF=0.167;AN=12;DP=290;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;QD=30.43;SOR=1.149	GT:AD:DP:GQ:PL	1/1:0,114:114:99:3489,341,0	5	1	0	0
chr14	63599753	63599753	G	A	exonic	WDR89	.	stopgain	WDR89:NM_001258272:exon3:c.C190T:p.R64X,WDR89:NM_080666:exon3:c.C190T:p.R64X,WDR89:NM_001008726:exon4:c.C190T:p.R64X,WDR89:NM_001382423:exon4:c.C190T:p.R64X,WDR89:NM_001382424:exon4:c.C190T:p.R64X,WDR89:NM_001382425:exon4:c.C190T:p.R64X,WDR89:NM_001382426:exon4:c.C190T:p.R64X,WDR89:NM_001382427:exon4:c.C190T:p.R64X,WDR89:NM_001382428:exon5:c.C190T:p.R64X,WDR89:NM_001382429:exon5:c.C190T:p.R64X	.	430	1077	15	0	0	15	0.00691563	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.655e-05	0	0	0	0	0	0	0.0001	1.29e-05	2	154602	rs200681506	8.895e-06	3.831e-05	1.225e-05	5.502e-06	2.319e-05	4.96e-06	3.83e-06	3.85e-06	1.44e-06	0	0	0	0	0	0	5.396e-06	8.281e-05	2.319e-05	0.0002	0.0074	0.0002	0.0003	0.0004	0.0002	0.0001	0.0002	0.0001	0.0003	0	0.0004	0	0	0.0003	0	0.0001	0.0015	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	0.000463	0.44119	D	0.194702	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.144	0.27435	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.481121	0.93742	D	0.634849	0.97827	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive;.;Recessive;.	High;.;High;.	7.339368	0.96413	36	0.99756467363359924	0.84694	0.94639	0.61825	D	AEFGBI	0.098617	0.19868	N	0.909272293390907	0.92206	11.29225	0.757728745137247	0.86734	8.984897	0.999972014400061	0.50053	0.706548	0.73137	0	0.653731	0.59785	0	0.724815	0.87919	0	0.683762	0.67416	0	.	.	5.63	4.69	0.58546	2.909000	0.48456	5.651000	0.49183	-0.680000	0.04236	1.000000	0.71638	0.992000	0.31684	0.036000	0.13842	0.0:0.0:0.8692:0.1308	16.526	0.84179	854	0.34840	WD40-repeat-containing domain;WD40-repeat-containing domain;WD40-repeat-containing domain;WD40-repeat-containing domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.25	360.03	184	chr14	63599753	.	G	A	360.03	.	AC=3;AF=0.25;AN=12;BaseQRankSum=3.25;DP=771;ExcessHet=1.383;FS=10.169;MLEAC=3;MLEAF=0.25;MQ=58.75;MQRankSum=-9.732;QD=0.76;ReadPosRankSum=-1.642;SOR=1.895	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:140,14:154:99:0|1:63599753_G_A:166,0,5742:63599753	3	0	3	0
chr14	64158707	64158707	T	C	exonic	SYNE2	.	nonsynonymous SNV	SYNE2:NM_015180:exon86:c.T15875C:p.M5292T,SYNE2:NM_182914:exon86:c.T15875C:p.M5292T	Emery-Dreifuss muscular dystrophy 5, autosomal dominant, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.143	0.00538161103081	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1245310548	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.57e-06	6.566e-06	0	1.345e-05	2.412e-05	0	0	.	.	2.412e-05	0	0	0	0	0	0	0	0	0	0.099	0.45039	T	0.026	0.60972	D	0.013	0.16609	B	0.009	0.14300	B	0.041119	0.23984	N	0.401918	0.999988	0.54805	D	1.655	0.42436	L	1.39	0.33842	T	-2.65	0.59710	D	0.474	0.55280	-1.0841	0.06572	T	0.073	0.29675	T	10	0.19718808	0.35641	T	0.005382	0.13801	T	0.143	0.38195	0.536	0.64585	0.319402600006	0.31557	0.3253330187294607	0.32446	0.0539322971594	0.05956	0.529864430428	0.43015	T	0.035396	0.50140	T	-0.123387	0.32572	T	-0.415013	0.31648	T	0.172842237501572	0.18771	T	0.611639	0.23235	T	0.08136348	0.18690	0.15216553	0.35812	0.08136348	0.18690	0.15216553	0.35811	-3.679	0.21014	T	.	.	0.191	0.41000	B	.;.;.;.;.	.;.;.;.;.	1.354212	0.17625	13.27	0.893201424526746	0.18696	0.58238	0.30589	D	AEFGBI	0.052091	0.09265	N	-0.429603788888434	0.24437	1.31946	-0.336983711819935	0.26915	1.489921	0.0805734006329366	0.15850	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.645948	0.59608	0	.	.	5.77	3.35	0.37468	0.797000	0.26660	0.426000	0.18273	0.661000	0.55757	1.000000	0.71638	0.995000	0.32472	1.000000	0.97212	0.0:0.0746:0.1466:0.7788	7.200	0.25051	540	0.73006	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4167	579.42	77	chr14	64158707	.	T	C	579.42	.	AC=5;AF=0.417;AN=12;BaseQRankSum=-2.587;DP=539;ExcessHet=6.1542;FS=180.799;MLEAC=5;MLEAF=0.417;MQ=60;MQRankSum=0;QD=1.33;ReadPosRankSum=1.52;SOR=9.419	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:81,17:98:6:.:.:6,0,1628:.	1	0	5	0
chr14	90900157	90900157	C	T	exonic	RPS6KA5	.	nonsynonymous SNV	RPS6KA5:NM_001322238:exon9:c.G673A:p.V225M,RPS6KA5:NM_001322228:exon10:c.G1222A:p.V408M,RPS6KA5:NM_001322231:exon10:c.G613A:p.V205M,RPS6KA5:NM_001322232:exon10:c.G1111A:p.V371M,RPS6KA5:NM_001322233:exon10:c.G1168A:p.V390M,RPS6KA5:NM_001322236:exon10:c.G1246A:p.V416M,RPS6KA5:NM_001322229:exon11:c.G1330A:p.V444M,RPS6KA5:NM_001322234:exon11:c.G754A:p.V252M,RPS6KA5:NM_001322237:exon11:c.G1093A:p.V365M,RPS6KA5:NM_004755:exon11:c.G1330A:p.V444M,RPS6KA5:NM_182398:exon11:c.G1330A:p.V444M,RPS6KA5:NM_001322227:exon12:c.G487A:p.V163M,RPS6KA5:NM_001322230:exon12:c.G529A:p.V177M,RPS6KA5:NM_001322235:exon12:c.G1093A:p.V365M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.036	0.0123321440245	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1392660268	4.816e-06	5.472e-06	5.475e-06	4.149e-06	0.0003	2e-06	1.29e-06	6.143e-05	2.54e-05	0	0	0	2.552e-05	0	0.0003	2.709e-06	1.669e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.079	0.34621	T	0.235	0.24767	T	0.008	0.23051	B	0.031	0.21939	B	0.051104	0.23011	N	0.507940	1	0.08975	N	1.045	0.26769	L	0.69	0.51714	T	-0.48	0.15379	N	0.149	0.19190	-1.0430	0.16413	T	0.080	0.31586	T	10	0.08655143	0.14722	T	0.012332	0.30806	T	0.036	0.09122	0.563	0.68364	0.341405816201	0.33746	0.4102733101405243	0.40943	.	.	0.314295887947	0.12557	T	0.096636	0.39864	T	-0.25204	0.13848	T	-0.599815	0.12826	T	0.0986009371006709	0.12203	T	0.89621	0.63872	D	0.17648551	0.38564	0.11425107	0.27578	0.17648551	0.38563	0.11425107	0.27578	-8.454	0.64733	D	.	.	0.076	0.06114	B	.;.;.	.;.;.	0.067615	0.04768	1.387	0.82925012548982646	0.14448	0.02240	0.06499	N	AEFBI	0.041577	0.06341	N	-1.20063856096436	0.04992	0.2265228	-1.2857661315231	0.04622	0.2184552	0.116516445800821	0.16780	0.651	0.46895	0	0.588066	0.40923	0	0.658983	0.55881	0	0.683762	0.67416	0	.	.	5.96	-5.97	0.02041	0.173000	0.16538	-1.784000	0.04733	-0.181000	0.10308	0.006000	0.17386	0.000000	0.08366	0.025000	0.12405	0.1492:0.5479:0.0:0.303	9.253	0.36729	923	0.18507	Protein kinase domain|Protein kinase, ATP binding site|Protein kinase domain|Protein kinase domain;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.08333	246.83	26	chr14	90900157	.	C	T	246.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.068;DP=186;ExcessHet=0;FS=2.995;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=6.86;ReadPosRankSum=-0.873;SOR=1.132	GT:AD:DP:GQ:PL	0/1:23,13:36:99:257,0,543	5	0	1	0
chr14	91313666	91313666	C	T	exonic	CCDC88C	.	nonsynonymous SNV	CCDC88C:NM_001080414:exon15:c.G2150A:p.R717H	Hydrocephalus, nonsyndromic, autosomal recessive, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	2761796	Inborn_genetic_diseases	MeSH:D030342,MedGen:C0950123	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.092	0.0174133598722	0.0002	.	6.632e-05	0	0	0	0	0.0001	0	0	7.12e-05	11	154602	rs373146563	9.247e-05	9.235e-05	8.861e-05	9.637e-05	0.0002	7.968e-05	7.441e-05	7.598e-05	7.087e-05	2.987e-05	0	0.0011	0	0	0.0002	9.084e-05	3.314e-05	1.159e-05	3.943e-05	3.94e-05	5.138e-05	2.69e-05	0.0001	1.715e-05	1.129e-05	2.261e-05	9.07e-06	2.412e-05	0	0.0001	0.0009	0	0	0	0	0	0	0.046	0.40573	D	0.071	0.43531	T	0.373	0.34173	B	0.066	0.27432	B	0.000562	0.43250	U	0.000000	0.999723	0.48557	D	2.18	0.61292	M	2.19	0.18724	T	-3.03	0.62747	D	0.249	0.28146	-1.0719	0.09001	T	0.057	0.24130	T	10	0.115352094	0.21730	T	0.017413	0.39097	T	0.092	0.26621	.	.	0.365120060079	0.36123	0.24883405471061232	0.24797	0.205038432444	0.22922	0.390255779028	0.23705	T	0.153735	0.49471	T	-0.334082	0.05808	T	-0.531759	0.19111	T	0.0747057041378851	0.09295	T	0.913209	0.69058	D	0.18005995	0.39108	0.12070737	0.29128	0.18005995	0.39108	0.12070737	0.29127	-8.864	0.66817	D	.	.	0.125	0.26419	B	.	.	3.495812	0.48888	22.7	0.99667059468924057	0.78330	0.81161	0.40624	D	AEFDBCI	0.407943	0.47982	N	-0.0314193305447012	0.40436	2.401324	0.00412719779837898	0.39907	2.373279	0.977307450668598	0.29808	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	5.15	3.27	0.36580	1.987000	0.40309	1.745000	0.28430	0.511000	0.23309	0.998000	0.41325	1.000000	0.68203	0.816000	0.38450	0.0:0.7849:0.0:0.2151	10.491	0.43938	829	0.39537	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1406.83	55	chr14	91313666	.	C	T	1406.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.215;DP=312;ExcessHet=0;FS=1.521;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.56;ReadPosRankSum=-1.243;SOR=0.923	GT:AD:DP:GQ:PL	0/1:56,56:112:99:1417,0,1361	5	0	1	0
chr14	92156612	92156612	A	G	exonic	CPSF2	.	nonsynonymous SNV	CPSF2:NM_001322271:exon11:c.A1117G:p.T373A,CPSF2:NM_001322272:exon12:c.A1576G:p.T526A,CPSF2:NM_017437:exon12:c.A1576G:p.T526A	.	475	1041	5	1	0	7	0.00335089	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.060	0.0164160692548	0.0011	0.00159744	0.0015	0.0006	0.0016	0	0	0.0010	0	0.0055	0.0014165	219	154602	rs140484405	0.0014	0.0014	0.0013	0.0015	0.0056	0.0014	0.0013	0.0052	0.0050	0.0003	0.0015	0.0005	0	7.571e-05	0.0028	0.0013	0.0011	0.0056	0.0009	0.0009	0.0009	0.0009	0.0064	0.0008	0.0007	0.0047	0.0040	0.0002	0	0.0009	0.0003	0	9.411e-05	0.0034	0.0012	0.0014	0.0064	0.732	0.03787	T	0.743	0.04930	T	0.042	0.21471	B	0.071	0.27960	B	0.000091	0.51296	D	0.180091	0.999718	0.48481	D	1.445	0.36358	L	0.86	0.46777	T	-1.34	0.33401	N	0.225	0.25253	-0.9865	0.33469	T	0.125	0.42903	T	10	0.009489924	0.00214	T	0.016416	0.37668	T	0.060	0.17295	.	.	0.68354922304	0.68085	0.3663218693419123	0.36546	0.631682211499	0.57116	0.552666902542	0.46234	T	0.092272	0.38970	T	-0.446774	0.01180	T	-0.41317	0.31860	T	0.0341333464093526	0.02660	T	0.775222	0.40690	T	0.15314405	0.34729	0.09434699	0.22328	0.15314405	0.34728	0.09434699	0.22327	-5.279	0.39734	T	.	.	0.072	0.04238	B	.	.	2.864905	0.37866	20.6	0.49864624935996132	0.04284	0.94122	0.60179	D	AEFBI	0.329354	0.42973	N	-0.157588697956911	0.34914	1.99882	-0.00061409056380992	0.39687	2.35704	0.738654395261433	0.23175	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.727631	0.95156	0	.	.	5.69	5.69	0.88346	4.886000	0.62841	9.437000	0.80819	0.691000	0.84096	1.000000	0.71638	1.000000	0.68203	0.746000	0.35646	1.0:0.0:0.0:0.0	15.959	0.79704	867	0.32089	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.08333	884.83	34	chr14	92156612	.	A	G	884.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.02;DP=250;ExcessHet=0;FS=0.84;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.06;ReadPosRankSum=-0.656;SOR=0.825	GT:AD:DP:GQ:PL	0/1:43,37:80:99:895,0,1041	5	0	1	0
chr14	92941625	92941625	C	T	exonic	ITPK1	.	nonsynonymous SNV	ITPK1:NM_001363707:exon9:c.G824A:p.G275D,ITPK1:NM_001142593:exon11:c.G1181A:p.G394D,ITPK1:NM_014216:exon11:c.G1181A:p.G394D	.	419	1100	3	0	0	3	0.00136178	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.212	0.0515681432945	.	.	0.0051	0	0	0	0	0	0.0081	0.0076	0.0004463	69	154602	rs564328210	0.0005	0.0005	0.0002	0.0007	0.0074	0.0004	0.0004	0.0069	0.0067	0	2.937e-05	0	2.813e-05	0	0.0015	1.858e-05	0.0003	0.0074	0.0001	0.0001	7.706e-05	0.0002	0.0033	7.569e-05	6.275e-05	0.0021	0.0017	0	0	6.531e-05	0	0	0	0	1.47e-05	0	0.0033	0.01	0.56456	D	0.025	0.57587	D	0.013	0.16609	B	0.011	0.15521	B	0.006224	0.32178	N	0.351400	1	0.21520	N	0.345	0.11182	N	.	.	.	-0.81	0.26422	N	0.122	0.14196	-0.9775	0.35571	T	0.101	0.37316	T	9	0.0068935454	0.00157	T	0.051568	0.64713	D	0.212	0.50341	0.354	0.35408	0.043077524339	0.03247	0.4015342942963157	0.40069	0.5848317274	0.54147	0.508045613766	0.39949	T	0.106566	0.41802	T	-0.473915	0.00804	T	-0.450076	0.27690	T	0.0394188475739584	0.03586	T	.	.	.	0.09627992	0.22674	0.14098229	0.33587	0.09627992	0.22673	0.14098229	0.33586	-4.362	0.29037	T	.	.	0.154	0.34138	B	.;.;.	.;.;.	1.270783	0.16697	12.70	0.96703659210830251	0.30784	0.85335	0.44458	D	AEFDBI	0.692251	0.65198	D	-0.584049680350897	0.19429	1.016781	-0.564688505870872	0.20416	1.099875	0.999952982813752	0.48110	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.655142	0.61905	0	.	.	4.79	1.91	0.24841	4.989000	0.63600	2.186000	0.31169	0.599000	0.40250	0.943000	0.32764	0.020000	0.20764	0.001000	0.02609	0.0:0.5978:0.4022:0.0	15.693	0.77227	906	0.23090	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001130	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.004065	0.08333	189.83	35	chr14	92941625	.	C	T	189.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.39;DP=156;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=8.63;ReadPosRankSum=-0.935;SOR=0.791	GT:AD:DP:GQ:PL	0/1:13,9:22:99:200,0,371	5	0	1	0
chr14	104944175	104944175	G	A	exonic	AHNAK2	.	nonsynonymous SNV	AHNAK2:NM_001350929:exon7:c.C10976T:p.A3659V,AHNAK2:NM_138420:exon7:c.C11276T:p.A3759V	.	433	1058	31	0	0	31	0.0144388	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.037	0.024738690492	.	.	4.977e-05	0.0001	0	0	0	0	0	0.0003	3.84e-05	1	26028	rs762470858	3.971e-05	7.868e-05	3.542e-05	4.404e-05	0.0002	3.115e-05	2.849e-05	3.767e-05	2.755e-05	2.992e-05	0	0	0	0	0.0002	4.049e-05	6.632e-05	8.12e-05	4.058e-05	0.0014	5.287e-05	2.77e-05	0.0001	1.757e-05	1.157e-05	4.944e-05	3.19e-05	0.0001	0	0	0	0	0	0	1.489e-05	0	0	0.028	0.46129	D	0.063	0.45110	T	0.012	0.16265	B	0.01	0.14941	B	0.299966	0.03948	U	1.840710	1	0.08975	N	0.205	0.09354	N	5.83	0.00652	T	-2.56	0.55339	D	0.069	0.04188	-0.9045	0.47504	T	0.003	0.00929	T	10	0.06377372	0.08357	T	0.024739	0.47726	T	0.037	0.09474	.	.	0.0138822411134	0.00435	0.004746779182261101	0.00447	.	.	0.167820572853	0.00025	T	0.024804	0.18673	T	-0.539558	0.00337	T	-0.738514	0.03953	T	0.0586531829207644	0.06954	T	0.236476	0.03296	T	0.04050458	0.05794	0.058473505	0.10811	0.04050458	0.05794	0.058473505	0.10811	-1.868	0.02720	T	.	.	0.092	0.13362	B	.	.	-0.717969	0.01279	0.067	0.97329653179763331	0.33418	0.02806	0.07531	N	AEFBI	.	.	.	-1.08578588282399	0.06905	0.319191	-1.17118712972313	0.06395	0.3077083	1.61262701251638E-4	0.05721	0.706548	0.73137	0	0.547309	0.14657	0	0.602189	0.34648	0	0.714379	0.83352	0	.	.	4.13	-1.91	0.07225	-0.804000	0.04641	-20.000000	0.00162	-1.927000	0.00502	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.5597:0.1748:0.2655:0.0	4.779	0.12563	982	0.03397	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	61.83	258	chr14	104944175	.	G	A	61.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.276;DP=1425;ExcessHet=0;FS=31.455;MLEAC=1;MLEAF=0.083;MQ=58.97;MQRankSum=-16.98;QD=0.19;ReadPosRankSum=-1.761;SOR=3.491	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:297,23:320:72:0|1:104944080_G_A:72,0,12402:104944080	5	0	1	0
chr14	104945711	104945711	T	C	exonic	AHNAK2	.	nonsynonymous SNV	AHNAK2:NM_001350929:exon7:c.A9440G:p.D3147G,AHNAK2:NM_138420:exon7:c.A9740G:p.D3247G	.	437	1064	20	1	0	22	0.0102326	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.069	0.00160606406043	.	0.000599042	0.0006	0	0.0009	0	0	0.0004	0.0011	0.0018	0.0005045	78	154602	rs200045846	0.0003	0.0004	0.0002	0.0004	0.0049	0.0003	0.0003	0.0035	0.0030	2.988e-05	0.0005	0	0	0	0.0049	0.0002	0.0007	0.0016	0.0002	0.0003	0.0003	0.0002	0.0012	0.0002	0.0001	0.0005	0.0003	0	0	0.0002	0	0	0	0	0.0004	0.0005	0.0012	0.022	0.48642	D	0.061	0.45530	T	0.999	0.77913	D	0.998	0.88582	D	.	.	.	.	1	0.08975	N	2.795	0.81503	M	4.56	0.01933	T	-3.73	0.70920	D	0.205	0.22742	-1.1040	0.03640	T	0.036	0.15553	T	9	0.017894953	0.00385	T	0.001606	0.02574	T	0.069	0.20116	.	.	0.107399877778	0.10242	0.019300944833428736	0.01884	.	.	0.214619427919	0.01022	T	0.111464	0.42697	T	-0.454045	0.01069	T	-0.432244	0.29680	T	0.155301952476957	0.17518	T	0.668433	0.27736	T	0.11593374	0.27352	0.11815223	0.28522	0.11593374	0.27352	0.11815223	0.28522	-8.936	0.67284	D	.	.	0.179	0.39047	B	.	.	2.686068	0.35051	19.79	0.98138199759592337	0.38580	0.15688	0.19033	N	AEFBI	.	.	.	-0.0467745553855719	0.39747	2.348942	-0.350656538561117	0.26488	1.463424	2.72927506228462E-4	0.06300	0.732398	0.92422	0	0.588066	0.40923	0	0.602189	0.34648	0	0.727631	0.95156	0	.	.	2.95	2.95	0.33285	4.109000	0.57562	-2.102000	0.04210	0.603000	0.45986	0.248000	0.24829	0.000000	0.08366	0.000000	0.00833	0.0:0.0:0.1821:0.8179	9.203	0.36433	982	0.03397	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003755	0.000000	0.005450	0.000000	0.000000	0.000000	0.000000	0.007692	0.08333	360.83	174	chr14	104945711	.	T	C	360.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=3.84;DP=790;ExcessHet=0;FS=16.953;MLEAC=1;MLEAF=0.083;MQ=56;MQRankSum=-8.253;QD=2.58;ReadPosRankSum=1.79;SOR=2.364	GT:AD:DP:GQ:PL	0/1:117,23:140:99:371,0,4313	5	0	1	0
chr14	104946203	104946204	AC	-	exonic	AHNAK2	.	frameshift deletion	AHNAK2:NM_001350929:exon7:c.8947_8948del:p.V2983Qfs*80,AHNAK2:NM_138420:exon7:c.9247_9248del:p.V3083Qfs*80	.	429	1073	19	1	0	21	0.00969082	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0	0.0003	0	0	0.0002	0.0012	0.0007	3.84e-05	1	26028	rs757107721	0.0003	0.0004	0.0002	0.0004	0.0059	0.0003	0.0003	0.0043	0.0038	3.003e-05	0.0005	0	0	0	0.0059	0.0002	0.0007	0.0017	0.0003	0.0004	0.0003	0.0003	0.0011	0.0002	0.0002	0.0004	0.0003	0	0	0.0005	0	0	9.656e-05	0	0.0004	0.0005	0.0011	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	2239.79	257	chr14	104946202	.	GAC	G	2239.79	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.227;DP=1115;ExcessHet=0;FS=6.731;MLEAC=1;MLEAF=0.083;MQ=45.28;MQRankSum=-3.266;QD=13.49;ReadPosRankSum=0.196;SOR=0.368	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:88,78:166:99:0|1:104946202_GAC_G:2250,0,2676:104946202	5	0	1	0
chr14	104946204	104946204	C	0	exonic	AHNAK2	.	.	.	.	438	157	442	479	6	1406	0.816803	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	17240.8	257	chr14	104946204	.	C	*	17240.8	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.928;DP=1192;ExcessHet=3.1439;FS=9.218;MLEAC=1;MLEAF=0.083;MQ=53.26;MQRankSum=-12.71;QD=14.94;ReadPosRankSum=-0.339;SOR=0.367	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:0,78:166:99:1|0:104946202_GAC_G:7043,3112,2676:104946202	5	0	1	0
chr14	104946206	104946206	-	GC	exonic	AHNAK2	.	frameshift insertion	AHNAK2:NM_001350929:exon7:c.8944_8945insGC:p.D2982Gfs*10,AHNAK2:NM_138420:exon7:c.9244_9245insGC:p.D3082Gfs*10	.	430	1071	20	1	0	22	0.0101664	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0	0.0003	0	0	0.0002	0.0012	0.0008	3.84e-05	1	26028	rs745545429	0.0003	0.0004	0.0002	0.0004	0.0060	0.0003	0.0003	0.0044	0.0038	3.011e-05	0.0005	0	0	0	0.0060	0.0002	0.0007	0.0017	0.0003	0.0004	0.0003	0.0003	0.0012	0.0002	0.0002	0.0005	0.0003	0	0	0.0006	0	0	9.779e-05	0	0.0004	0.0005	0.0012	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	2309.79	235	chr14	104946206	.	T	TGC	2309.79	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.942;DP=1075;ExcessHet=0;FS=6.589;MLEAC=1;MLEAF=0.083;MQ=44.36;MQRankSum=-2.943;QD=13.67;ReadPosRankSum=-0.02;SOR=0.383	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:88,81:169:99:0|1:104946202_GAC_G:2320,0,2667:104946202	5	0	1	0
chr14	104949074	104949074	G	C	exonic	AHNAK2	.	nonsynonymous SNV	AHNAK2:NM_001350929:exon7:c.C6077G:p.P2026R,AHNAK2:NM_138420:exon7:c.C6377G:p.P2126R	.	838	683	1	0	0	1	0.000731529	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.098	.	.	0.00399361	0.0347	0.0464	0.0173	0.0541	0.0137	0.0229	0.0459	0.0748	0.0008068	21	26028	rs545833279	0.0007	0.0010	0.0007	0.0008	0.0032	0.0007	0.0007	0.0028	0.0026	0.0016	0.0009	0.0011	0.0029	0.0004	0.0006	0.0003	0.0014	0.0032	0.0005	0.0008	0.0006	0.0004	0.0011	0.0004	0.0003	0.0008	0.0006	0.0011	0.0017	0.0005	0	0.0008	0	0	0.0002	0.0010	0.0011	0.004	0.65419	D	0.017	0.60337	D	0.485	0.36856	P	0.261	0.39516	B	.	.	.	.	1	0.08975	N	1.47	0.36993	L	3.6	0.04494	T	-5.76	0.87835	D	0.094	0.07398	-1.0816	0.07041	T	0.036	0.15509	T	9	0.0035232008	0.00063	T	.	.	.	0.098	0.28162	.	.	.	.	0.009788836885484457	0.00940	.	.	0.221396118402	0.01392	T	0.156222	0.49830	T	-0.235321	0.15950	T	-0.575799	0.14921	T	0.0605766607648034	0.07258	T	0.371363	0.08780	T	0.08241573	0.18984	0.16221161	0.37691	0.08241573	0.18984	0.16221161	0.37690	-7.718	0.59133	D	.	.	0.130	0.27880	B	.	.	1.022998	0.14027	10.59	0.99597670973215935	0.73983	0.75923	0.37200	D	AEFBI	.	.	.	-0.146980122350168	0.35362	2.030258	-0.285692830019549	0.28568	1.593936	6.08133509168249E-4	0.07437	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.727631	0.95156	0	.	.	4.16	3.24	0.36257	1.017000	0.29591	0.261000	0.16544	-2.030000	0.00430	0.718000	0.28801	0.000000	0.08366	0.000000	0.00833	0.0:0.0:0.6085:0.3915	9.245	0.36682	982	0.03397	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.125	757.8	.	chr14	104949074	.	G	C	757.8	.	AC=1;AF=0.125;AN=8;BaseQRankSum=2.71;DP=551;ExcessHet=0;FS=9.745;MLEAC=1;MLEAF=0.125;MQ=58.35;MQRankSum=-11.59;QD=3.91;ReadPosRankSum=-0.141;SOR=0.726	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:164,30:194:99:0|1:104949045_G_C:766,0,6796:104949045	3	0	1	2
chr14	104949094	104949094	C	G	exonic	AHNAK2	.	nonsynonymous SNV	AHNAK2:NM_001350929:exon7:c.G6057C:p.M2019I,AHNAK2:NM_138420:exon7:c.G6357C:p.M2119I	.	826	695	1	0	0	1	0.000718907	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.020	.	.	.	0.0368	0.0484	0.0183	0.0610	0.0142	0.0240	0.0466	0.0793	3.84e-05	1	26028	rs199873247	0.0009	0.0010	0.0008	0.0009	0.0042	0.0008	0.0008	0.0036	0.0034	0.0016	0.0010	0.0010	0.0042	0.0005	0.0006	0.0004	0.0015	0.0034	0.0006	0.0008	0.0007	0.0005	0.0016	0.0005	0.0004	0.0008	0.0006	0.0011	0.0017	0.0005	0	0.0016	0	0	0.0003	0.0010	0.0016	0.208	0.19782	T	0.558	0.09175	T	0.003	0.11197	B	0.01	0.14941	B	.	.	.	.	1	0.21028	N	0.55	0.14455	N	5.89	0.00629	T	0.03	0.06612	N	0.027	0.00571	-0.9084	0.47049	T	0.002	0.00738	T	9	0.0030561388	0.00050	T	.	.	.	0.020	0.03691	0.255	0.19533	.	.	0.005157390116853562	0.00486	.	.	0.178342416883	0.00079	T	0.015128	0.12745	T	-0.376966	0.03256	T	-0.779262	0.02476	T	0.00239159522359801	0.00025	T	0.480552	0.14510	T	0.13128155	0.30606	0.12269506	0.29593	0.13128155	0.30605	0.12269506	0.29592	-5.577	0.42582	T	.	.	0.253	0.48736	B	.	.	0.092124	0.04957	1.523	0.58574301978269405	0.06024	0.02166	0.06356	N	AEFBI	.	.	.	-0.990019499376126	0.08816	0.4148285	-1.00662784791001	0.09639	0.4807123	2.38740922418111E-4	0.06095	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.727631	0.95156	0	.	.	4.31	2.38	0.28415	-2.219000	0.01301	-20.000000	0.00162	0.526000	0.24426	0.000000	0.06391	0.000000	0.08366	0.005000	0.06747	0.205:0.4504:0.2466:0.0979	3.163	0.06135	982	0.03397	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.098684	0.081250	0.122642	0.074468	0.000000	0.074468	0.076577	0.136792	0.125	1129.8	.	chr14	104949094	.	C	G	1129.8	.	AC=1;AF=0.125;AN=8;BaseQRankSum=-0.748;DP=526;ExcessHet=0;FS=10.37;MLEAC=1;MLEAF=0.125;MQ=57.63;MQRankSum=-10.44;QD=6.69;ReadPosRankSum=1.77;SOR=0.446	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:131,38:169:99:0|1:104949045_G_C:1138,0,5387:104949045	3	0	1	2
chr14	104949096	104949096	T	C	exonic	AHNAK2	.	nonsynonymous SNV	AHNAK2:NM_001350929:exon7:c.A6055G:p.M2019V,AHNAK2:NM_138420:exon7:c.A6355G:p.M2119V	.	829	690	1	2	0	5	0.00361011	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.008	.	.	.	0.0393	0.0626	0.0205	0.0640	0.0145	0.0246	0.0502	0.0813	0.0002689	7	26028	rs199970974	0.0016	0.0076	0.0016	0.0016	0.0113	0.0015	0.0015	0.0103	0.0099	0.0113	0.0024	0.0015	0.0050	0.0006	0.0021	0.0006	0.0032	0.0047	0.0055	0.0093	0.0057	0.0052	0.0170	0.0050	0.0049	0.0155	0.0149	0.0170	0.0035	0.0036	0	0.0034	0	0	0.0008	0.0080	0.0035	1.0	0.00964	T	0.444	0.13177	T	0.001	0.07471	B	0.002	0.06944	B	.	.	.	.	1	0.08975	N	-1.005	0.01165	N	5.91	0.00623	T	0.22	0.04694	N	0.017	0.00226	-0.9653	0.38151	T	0.001	0.00348	T	9	0.0026950836	0.00042	T	.	.	.	0.008	0.00669	.	.	.	.	0.005194985040938393	0.00490	.	.	0.186300992966	0.00166	T	0.015031	0.12687	T	-0.454455	0.01063	T	-0.89057	0.00571	T	0.000298728606434334	0.00002	T	0.363264	0.08416	T	0.034015387	0.03734	0.057699602	0.10537	0.034015387	0.03734	0.057699602	0.10536	-1.675	0.02164	T	.	.	0.056	0.00428	B	.	.	-2.264818	0.00055	0.001	0.31825851185022491	0.01813	0.00319	0.01677	N	AEFBI	.	.	.	-2.08229068781637	0.00140	0.00599041	-2.05838207092252	0.00229	0.01010856	3.56203564765778E-4	0.06668	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.727631	0.95156	0	.	.	4.31	-2.8	0.05477	-3.781000	0.00414	-20.000000	0.00162	-3.188000	0.00112	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1064:0.1654:0.2303:0.4979	3.036	0.05753	982	0.03397	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.109354	0.113924	0.130094	0.075269	0.000000	0.076087	0.076577	0.154206	0.125	1129.8	.	chr14	104949096	.	T	C	1129.8	.	AC=1;AF=0.125;AN=8;BaseQRankSum=0.528;DP=528;ExcessHet=0;FS=10.37;MLEAC=1;MLEAF=0.125;MQ=57.38;MQRankSum=-10.44;QD=6.69;ReadPosRankSum=1.2;SOR=0.446	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:131,38:169:99:0|1:104949045_G_C:1138,0,5387:104949045	3	0	1	2
chr14	104949915	104949915	C	G	exonic	AHNAK2	.	nonsynonymous SNV	AHNAK2:NM_001350929:exon7:c.G5236C:p.V1746L,AHNAK2:NM_138420:exon7:c.G5536C:p.V1846L	.	427	1093	2	0	0	2	0.000914077	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	0.00319830884034	0.0004	0.00119808	0.0003	0.0027	0.0004	0.0001	0	3.035e-05	0	0.0002	0.0002975	46	154602	rs372488743	0.0001	0.0002	0.0001	0.0001	0.0026	0.0001	0.0001	0.0022	0.0020	0.0026	0.0003	0	5.039e-05	0	0	6.379e-05	0.0003	7.019e-05	0.0009	0.0009	0.0009	0.0009	0.0028	0.0007	0.0007	0.0024	0.0022	0.0028	0	6.859e-05	0	0.0008	0	0	9.047e-05	0.0015	0.0006	1.0	0.00964	T	0.958	0.02562	T	0.005	0.12996	B	0.003	0.08700	B	.	.	.	.	1	0.08975	N	0.675	0.16386	N	5.44	0.00979	T	0.62	0.02442	N	0.032	0.00825	-0.9251	0.44844	T	0.002	0.00676	T	9	0.0060581565	0.00136	T	0.003198	0.07026	T	0.011	0.01250	0.208	0.12497	0.0138822411134	0.00435	0.005942077431607328	0.00563	.	.	0.232460722327	0.02155	T	0.015697	0.13114	T	-0.696352	0.00038	T	-0.775143	0.02603	T	0.00209278565339374	0.00022	T	0.492651	0.15191	T	0.027752869	0.02013	0.0362239	0.03027	0.027752869	0.02012	0.0362239	0.03027	-8.084	0.61641	D	.	.	0.178	0.38782	B	.	.	-0.943069	0.00856	0.030	0.12012696699281185	0.00197	0.03849	0.09203	N	AEFBI	.	.	.	-1.46246045480056	0.02121	0.0933042	-1.47044462695258	0.02590	0.1193756	9.56943912249564E-5	0.04910	0.67177	0.52595	0	0.588015	0.36545	0	0.658983	0.55881	0	0.711	0.71501	0	.	.	4.12	-0.408	0.11764	-1.409000	0.02589	-13.697000	0.00444	-1.897000	0.00527	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.4046:0.5061:0.0893	9.335	0.37204	982	0.03397	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	2308.83	135	chr14	104949915	.	C	G	2308.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=4.68;DP=1472;ExcessHet=0;FS=37.444;MLEAC=1;MLEAF=0.083;MQ=56.84;MQRankSum=-2.508;QD=7.85;ReadPosRankSum=1.03;SOR=1.196	GT:AD:DP:GQ:PL	0/1:199,95:294:99:2319,0,5154	5	0	1	0
chr14	104950043	104950043	A	G	exonic	AHNAK2	.	nonsynonymous SNV	AHNAK2:NM_001350929:exon7:c.T5108C:p.V1703A,AHNAK2:NM_138420:exon7:c.T5408C:p.V1803A	.	440	1056	25	1	0	27	0.0126227	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	.	.	0.00958466	0.0009	0.0049	0.0005	0.0014	0	0.0003	0.0023	0.0010	0.0012613	195	154602	rs145652874	0.0009	0.0026	0.0009	0.0009	0.0159	0.0009	0.0008	0.0148	0.0143	0.0159	0.0020	0.0002	0.0020	0.0002	0.0032	0.0003	0.0019	0.0015	0.0071	0.0099	0.0075	0.0068	0.0241	0.0068	0.0066	0.0228	0.0222	0.0241	0	0.0037	0	0.0021	0	0.0072	0.0004	0.0082	0.0005	0.823	0.02936	T	0.538	0.09829	T	0.01	0.15535	B	0.001	0.04355	B	.	.	.	.	1	0.08975	N	-1.23	0.00807	N	5.95	0.00612	T	0.83	0.01787	N	0.023	0.00407	-0.9457	0.41698	T	0.000	0.00075	T	9	0.0042342544	0.00085	T	.	.	.	0.014	0.01968	.	.	0.0138822411134	0.00435	0.003104252817684476	0.00289	.	.	0.205832988024	0.00647	T	0.016131	0.13395	T	-0.741744	0.00020	T	-0.819986	0.01452	T	0.0039249460276532	0.00042	T	0.174383	0.01678	T	0.016648958	0.00212	0.028164823	0.01028	0.016648958	0.00212	0.028164823	0.01028	0.606	0.00192	T	.	.	0.074	0.05231	B	.	.	-1.605512	0.00237	0.004	0.24895953066776089	0.01122	0.00079	0.00540	N	AEFBI	.	.	.	-2.08541276212991	0.00138	0.005898899	-2.17211708655396	0.00129	0.005680874	0.00857578015082789	0.11701	0.67177	0.52595	0	0.588015	0.36545	0	0.602189	0.34648	0	0.711	0.71501	0	.	.	2.02	-4.05	0.03730	-5.785000	0.00119	-12.495000	0.00521	-2.579000	0.00240	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.4939:0.1884:0.3176:0.0	3.928	0.08771	982	0.03397	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.010787	0.036082	0.001362	0.008333	0.000000	0.008621	0.013072	0.003846	0.1667	8693.04	135	chr14	104950043	.	A	G	8693.04	.	AC=2;AF=0.167;AN=12;DP=1158;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.167;MQ=56.34;QD=27.91;SOR=0.949	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,199:199:99:1|1:104950030_A_C:8713,599,0:104950030	5	1	0	0
chr14	104950410	104950410	C	G	exonic	AHNAK2	.	nonsynonymous SNV	AHNAK2:NM_001350929:exon7:c.G4741C:p.V1581L,AHNAK2:NM_138420:exon7:c.G5041C:p.V1681L	.	429	1092	1	0	0	1	0.000457666	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.027	0.00973767702888	.	0.000199681	2.521e-05	0.0001	0	0	0	1.517e-05	0	6.125e-05	2.59e-05	4	154602	rs201340294	8.33e-06	1.103e-05	9.673e-06	6.974e-06	6.03e-05	4.44e-06	3.51e-06	1.596e-05	9.39e-06	6.03e-05	0	0	0	0	0	3.647e-06	3.359e-05	4.696e-05	4.092e-05	4.672e-05	6.647e-05	1.4e-05	0.0001	1.769e-05	1.165e-05	3.347e-05	1.98e-05	0.0001	0	6.879e-05	0	0	0	0	0	0.0005	0	1.0	0.00964	T	1.0	0.01155	T	0.006	0.13644	B	0.12	0.32230	B	.	.	.	.	1	0.18198	N	0.245	0.09735	N	4.99	0.01332	T	0.25	0.04456	N	0.038	0.01203	-0.8922	0.48740	T	0.003	0.01026	T	9	0.023446828	0.00613	T	0.009738	0.25427	T	0.027	0.05988	0.16	0.06396	0.0138822411134	0.00435	0.002769478969881453	0.00257	.	.	0.222423136234	0.01454	T	0.015279	0.12850	T	-0.507211	0.00521	T	-0.784203	0.02329	T	0.0432517694809705	0.04284	T	0.516048	0.16641	T	0.03305123	0.03447	0.030471666	0.01508	0.03305123	0.03447	0.030471666	0.01508	-8.401	0.63772	D	.	.	0.142	0.31253	B	.	.	-1.057321	0.00693	0.020	0.14622675033592111	0.00329	0.02512	0.07007	N	AEFBI	.	.	.	-1.64159329193304	0.01071	0.04647693	-1.73696083434686	0.00983	0.04405563	0.00475530842986958	0.10700	0.67177	0.52595	0	0.588015	0.36545	0	0.602189	0.34648	0	0.711	0.71501	0	.	.	3.97	-5.81	0.02148	-2.686000	0.00905	-13.511000	0.00454	-0.946000	0.02057	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1196:0.2724:0.3702:0.2378	2.251	0.03797	982	0.03397	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	1467.83	136	chr14	104950410	.	C	G	1467.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.1;DP=1841;ExcessHet=0;FS=6.587;MLEAC=1;MLEAF=0.083;MQ=58.63;MQRankSum=-8.596;QD=5.13;ReadPosRankSum=-3.225;SOR=1.099	GT:AD:DP:GQ:PL	0/1:214,72:286:99:1478,0,8560	5	0	1	0
chr14	104994748	104994748	G	A	exonic	CLBA1	.	nonsynonymous SNV	CLBA1:NM_174891:exon5:c.G967A:p.D323N	.	411	1096	14	1	0	16	0.00724638	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.051	0.00317260751494	8.3e-05	0.000599042	0.0005	0	0.0006	0	0	0.0004	0	0.0016	0.0004722	73	154602	rs200272722	0.0003	0.0003	0.0002	0.0004	0.0062	0.0003	0.0003	0.0046	0.0040	3.085e-05	0.0005	0	0	0	0.0062	0.0002	0.0007	0.0018	0.0003	0.0003	0.0002	0.0003	0.0025	0.0002	0.0002	0.0014	0.0011	2.406e-05	0	0.0004	0	0	9.416e-05	0	0.0003	0.0009	0.0025	0.507	0.08762	T	0.412	0.14456	T	0.606	0.39465	P	0.031	0.21939	B	0.936976	0.08380	N	0.959023	1	0.08975	N	.	.	.	.	.	.	-1.65	0.47008	N	0.059	0.04188	-1.0289	0.20811	T	0.030	0.12804	T	9	0.006056577	0.00136	T	0.003173	0.06936	T	0.051	0.14325	.	.	0.0297737177859	0.01360	0.24883442652854282	0.24797	0.117908866914	0.13276	.	.	.	0.072555	0.34482	T	-0.591096	0.00165	T	-0.646472	0.09203	T	0.014728854302732	0.00307	T	0.536546	0.19140	T	0.059315845	0.12040	0.034095634	0.02415	0.059315845	0.12039	0.034095634	0.02415	-3.299	0.13724	T	.	.	0.145	0.31980	B	.;.;.	.;.;.	0.204959	0.05893	2.333	0.85221806567649572	0.15760	0.05460	0.11339	N	AEFBCI	0.025915	0.01855	N	-0.998479758405893	0.08637	0.4056948	-1.09236291925277	0.07850	0.3835069	0.999396745369358	0.39470	0.651	0.46895	0	0.588066	0.40923	0	0.645312	0.48771	0	0.683762	0.67416	0	.	.	3.67	-0.564	0.11185	-0.027000	0.12319	0.989000	0.23179	0.596000	0.33519	0.000000	0.06391	0.000000	0.08366	0.022000	0.11911	0.4312:0.0:0.5688:0.0	7.000	0.23982	982	0.03397	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.004028	0.000000	0.005435	0.005848	0.000000	0.000000	0.000000	0.003788	0.08333	759.83	38	chr14	104994748	.	G	A	759.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.73;DP=260;ExcessHet=0;FS=0.917;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.51;ReadPosRankSum=-1.072;SOR=0.826	GT:AD:DP:GQ:PL	0/1:34,32:66:99:770,0,725	5	0	1	0
chr15	20534630	20534756	TCTTCTCCTCCTGCTCCCGTATCTTCTCCTCCTGCTCCCTTATCTTCTCCTCCTGCTTCCACATCTTCTCCTCCTGCTCCTGCCTCTTTTCCTCCTGCTCCCGTATCTTCTCCTCCTGCCTCCACAC	0	exonic	GOLGA6L6	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	46.84	73	chr15	20534630	.	TCTTCTCCTCCTGCTCCCGTATCTTCTCCTCCTGCTCCCTTATCTTCTCCTCCTGCTTCCACATCTTCTCCTCCTGCTCCTGCCTCTTTTCCTCCTGCTCCCGTATCTTCTCCTCCTGCCTCCACAC	*	46.84	.	AC=1;AF=0.1;AN=10;BaseQRankSum=1.56;DP=245;ExcessHet=0.5115;FS=1.601;MLEAC=1;MLEAF=0.1;MQ=52.62;MQRankSum=4.67;QD=0.41;ReadPosRankSum=-5.489;SOR=0.919	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:34,8:42:99:0|1:20534604_TCGTATCTTCTCCTCCTGCTCCCGTATCTTCTCCTCCTGCTCC_T:161,0,1376:20534604	4	0	1	1
chr15	20534664	20534675	CTCCCTTATCTT	0	exonic	GOLGA6L6	.	.	.	.	554	732	222	4	10	240	0.135773	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	241.23	73	chr15	20534664	.	CTCCCTTATCTT	*	241.23	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-0.821;DP=212;ExcessHet=1.383;FS=2.345;MLEAC=2;MLEAF=0.167;MQ=55.17;MQRankSum=0.179;QD=2.04;ReadPosRankSum=-3.735;SOR=0.94	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:14,8:30:99:1|0:20534604_TCGTATCTTCTCCTCCTGCTCCCGTATCTTCTCCTCCTGCTCC_T:281,0,719:20534604	4	0	2	0
chr15	20534680	20534680	T	0	exonic	GOLGA6L6	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	175.27	73	chr15	20534680	.	T	*	175.27	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-0.968;DP=194;ExcessHet=1.383;FS=2.387;MLEAC=2;MLEAF=0.167;MQ=55.12;MQRankSum=0.674;QD=1.51;ReadPosRankSum=-2.588;SOR=0.968	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:14,8:30:99:1|0:20534604_TCGTATCTTCTCCTCCTGCTCCCGTATCTTCTCCTCCTGCTCC_T:281,0,719:20534604	4	0	2	0
chr15	20845872	20845872	T	C	exonic	POTEB;POTEB2	.	nonsynonymous SNV	POTEB2:NM_001277303:exon9:c.A1259G:p.N420S,POTEB:NM_001277304:exon9:c.A1259G:p.N420S	.	436	962	122	2	0	126	0.0614634	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1023	0.1962	0.1486	0.1165	0.0769	0.0872	0.0804	0.0657	0.0592295	9157	154602	rs79335648	8.749e-05	6.598e-05	5.516e-05	0.0001	0.0007	4.714e-05	3.515e-05	0.0001	4.787e-05	0	0.0007	0	0.0004	0	0	8.064e-05	0	0	0	0.0001	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.305	0.14256	T	0.839	0.03621	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	-0.55	0.02420	N	2.32	0.16640	T	-0.63	0.18459	N	0.008	0.00068	.	.	.	.	.	.	.	0.0018360615	0.00025	T	.	.	.	.	.	.	.	.	.	0.006055757321101937	0.00574	1.56174073802	0.88049	0.741252064705	0.73158	T	0.003477	0.02879	T	-0.366787	0.03760	T	-0.76464	0.02949	T	.	.	.	0.39826	0.10085	T	0.023043897	0.01012	0.036473703	0.03101	0.023043897	0.01012	0.036473703	0.03101	-3.291	0.13621	T	.	.	0.079	0.07412	B	.	.	-0.426343	0.02115	0.200	0.31482124279507218	0.01776	0.00335	0.01744	N	AEFI	0.024797	0.01593	N	.	.	.	.	.	.	1.07113283285327E-5	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.4	-2.79	0.05494	-0.085000	0.11215	-10.088000	0.00741	-0.694000	0.04098	0.000000	0.06391	0.000000	0.08366	0.021000	0.11733	0.2288:0.3611:0.0:0.4101	2.473	0.04291	1000	0.00083	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.094329	0.101266	0.100000	0.132479	0.000000	0.052632	0.083942	0.073171	0.3333	2439.96	33	chr15	20845872	.	T	C	2439.96	.	AC=4;AF=0.333;AN=12;BaseQRankSum=1.07;DP=1260;ExcessHet=3.1439;FS=0;MLEAC=4;MLEAF=0.333;MQ=37.37;MQRankSum=-0.44;QD=2.08;ReadPosRankSum=0.277;SOR=0.788	GT:AD:DP:GQ:PL	0/1:189,49:238:99:689,0,4484	2	0	4	0
chr15	22081297	22081297	T	C	exonic	OR4M2	.	nonsynonymous SNV	OR4M2:NM_001004719:exon1:c.T673C:p.F225L	.	540	106	147	729	0	1605	0.883324	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.105	.	.	.	0.9050	0.7710	0.9468	0.9535	0.9317	0.9220	0.9117	0.8549	0.780262	120630	154602	rs491208	0	5.101e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.000844	0.41440	N	0.000000	1	0.08975	P	-2.445	0.00066	N	.	.	.	.	.	.	0.024	0.00445	-0.9717	0.36841	T	0.000	0.00011	T	9	7.2730036e-05	0.00009	T	.	.	.	.	.	0.54	0.65161	.	.	0.19599440268041618	0.19516	.	.	.	.	.	0.00272	0.02115	T	-0.672873	0.00053	T	-0.702807	0.05673	T	0.00771905005910873	0.00090	T	0.142386	0.01156	T	0.07985808	0.18268	0.08259106	0.18862	0.07985808	0.18267	0.08259106	0.18861	0.242	0.00274	T	.	.	0.245	0.47901	B	.	.	1.048175	0.14294	10.87	0.73235698812529659	0.10255	0.01725	0.05460	N	AEFGBCI	.	.	.	-1.86751014071891	0.00400	0.01720119	-1.75517952119794	0.00914	0.04088312	0.944484955208236	0.27617	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	2.5	0.487	0.16050	-0.893000	0.04234	-0.516000	0.08717	-0.757000	0.03535	0.000000	0.06391	0.000000	0.08366	0.008000	0.08271	0.0:0.4472:0.0:0.5528	6.210	0.19834	.	.	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.865792	0.833333	0.845109	0.862573	0.900000	0.887931	0.920732	0.867424	0.75	3065.37	1	chr15	22081297	.	T	C	3065.37	.	AC=6;AF=0.75;AN=8;BaseQRankSum=4.73;DP=636;ExcessHet=0.2119;FS=43.298;MLEAC=7;MLEAF=0.875;MQ=47.14;MQRankSum=-7.298;QD=7.44;ReadPosRankSum=-0.342;SOR=2.907	GT:AD:DP:GQ:PL	0/1:138,24:162:99:222,0,3830	0	2	2	2
chr15	23358978	23358978	C	T	exonic	GOLGA8H	.	unknown	UNKNOWN	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0013500930945	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1356930710	0.0002	0.0003	0.0002	0.0002	0.0014	0.0002	0.0002	0.0007	0.0006	7.413e-05	0.0010	0	0.0003	3.336e-05	0.0014	0.0002	0.0003	0.0002	0.0003	0.0004	0.0003	0.0002	0.0005	0.0002	0.0002	0.0003	0.0002	0.0005	0	0.0004	0	0	0	0	0.0002	0.0008	0	0.294	0.14793	T	0.294	0.20745	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.88	0.23884	T	-0.49	0.15578	N	0.224	0.25130	.	.	.	.	.	.	.	0.086348146	0.14669	T	0.00135	0.01936	T	.	.	.	.	0.436993770938	0.43321	0.45534575445755304	0.45452	1.82565083264	0.92004	.	.	.	.	.	.	-0.361024	0.04072	T	-0.756362	0.03245	T	.	.	.	0.587441	0.21491	T	0.0132728815	0.00054	0.030171681	0.01440	0.0132728815	0.00054	0.030171681	0.01440	-2.363	0.04911	T	.	.	0.084	0.09627	B	.	.	0.194379	0.05799	2.242	0.72634542780843325	0.10042	0.03026	0.07907	N	AEFI	0.040788	0.06114	N	.	.	.	.	.	.	2.3385153619707E-5	0.03498	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.829	0.829	0.17984	0.288000	0.18695	0.551000	0.19421	-3.658000	0.00068	0.015000	0.19116	0.070000	0.22201	0.000000	0.00833	0.0:1.0:0.0:0.0	5.153	0.14350	988	0.01987	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	150.84	26	chr15	23358978	.	C	T	150.84	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.33;DP=84;ExcessHet=0;FS=5.167;MLEAC=1;MLEAF=0.083;MQ=24.85;MQRankSum=1.91;QD=8.87;ReadPosRankSum=-0.293;SOR=2.584	GT:AD:DP:GQ:PL	0/1:10,7:17:99:161,0,233	5	0	1	0
chr15	23440492	23440492	C	0	exonic	GOLGA6L2	.	.	.	.	628	57	798	30	9	867	0.882716	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4167	10281.9	114	chr15	23440492	.	C	*	10281.9	.	AC=5;AF=0.417;AN=12;BaseQRankSum=2.67;DP=681;ExcessHet=0;FS=3.882;MLEAC=5;MLEAF=0.417;MQ=57.6;MQRankSum=1.04;QD=15.51;ReadPosRankSum=0.335;SOR=0.821	GT:AD:DP:GQ:PL	1/0:0,71:129:99:4496,1809,2382	1	0	5	0
chr15	28257189	28257189	T	C	exonic	HERC2	.	nonsynonymous SNV	HERC2:NM_004667:exon17:c.A2389G:p.M797V	Mental retardation, autosomal recessive 38, Autosomal recessive	414	1067	39	2	0	43	0.019752	.	.	.	215493	HERC2-related_disorder|not_specified|not_provided	.|MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.041	.	0.0022	0.00199681	0.0026	0.0018	0.0014	0	0	0.0026	0.0122	0.0057	0.0023738	367	154602	rs150930758	0.0018	0.0018	0.0015	0.0020	0.0318	0.0017	0.0017	0.0280	0.0266	0.0027	0.0026	0.0197	0	1.872e-05	0.0318	0.0008	0.0041	0.0060	0.0022	0.0022	0.0022	0.0022	0.0063	0.0020	0.0019	0.0053	0.0049	0.0017	0	0.0063	0.0185	0	0	0.0136	0.0011	0.0043	0.0044	0.271	0.15984	T	.	.	.	0.007	0.14184	B	0.005	0.11217	B	0.000243	0.46924	N	0.235442	0.714068	0.29986	N	1.265	0.31966	L	1.22	0.37052	T	-0.79	0.21860	N	0.174	0.18649	-1.0669	0.10108	T	0.039	0.16806	T	10	0.009844363	0.00221	T	.	.	.	0.041	0.10877	.	.	0.161926535498	0.15789	0.4378179955636888	0.43698	0.744429683914	0.63434	0.363349378109	0.19873	T	0.080154	0.36297	T	-0.521538	0.00431	T	-0.519456	0.20350	T	0.000318426846013935	0.00003	T	0.666933	0.27600	T	0.050658528	0.09184	0.06506797	0.13133	0.050658528	0.09184	0.06506797	0.13133	-1.262	0.01342	T	0.09886509047827896	0.07116	0.059	0.00730	B	.	.	0.446432	0.08165	4.899	0.68021992218274507	0.08531	0.75345	0.36886	D	AEFDBI	0.095707	0.19332	N	-0.716014050531727	0.15571	0.7859163	-0.621457361082256	0.18943	1.014164	0.0122129500113072	0.12295	0.732398	0.92422	0	0.653731	0.59785	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.56	0.315	0.15097	1.153000	0.31287	-0.412000	0.09340	-1.403000	0.01139	0.820000	0.29989	0.000000	0.08366	0.027000	0.12703	0.1156:0.1966:0.0:0.6878	5.617	0.16720	856	0.34373	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.027615	0.006944	0.027397	0.071429	0.000000	0.026316	0.018657	0.012397	0.1667	2284.06	101	chr15	28257189	.	T	C	2284.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=0.613;DP=330;ExcessHet=0.4139;FS=1.157;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=12.62;ReadPosRankSum=1.84;SOR=0.813	GT:AD:DP:GQ:PL	0/1:43,37:80:99:930,0,1174	4	0	2	0
chr15	30084797	30084797	C	A	exonic	GOLGA8J	.	nonsynonymous SNV	GOLGA8J:NM_001282472:exon2:c.C75A:p.S25R	.	570	947	5	0	0	5	0.00263296	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0096	0	0	0	0	0.0088	0.0294	0.0166	0.0004075	63	154602	rs201313387	0.0006	0.0007	0.0005	0.0007	0.0034	0.0006	0.0006	0.0030	0.0029	0	0.0002	0.0130	2.95e-05	0	0.0029	0.0001	0.0014	0.0034	0.0006	0.0007	0.0006	0.0006	0.0036	0.0005	0.0004	0.0019	0.0014	0	0	0.0002	0.0111	0	0	0	0.0003	0.0008	0.0036	0.132	0.26519	T	0.083	0.41405	T	0.001	0.07471	B	0.004	0.10090	B	.	.	.	.	0.999129	0.46125	D	1.595	0.40691	L	2.51	0.14284	T	-2.69	0.57435	D	0.326	0.36674	.	.	.	.	.	.	.	0.0066145062	0.00150	T	.	.	.	.	.	.	.	0.367229591828	0.36328	0.381946223394327	0.38109	1.45917888074	0.86306	.	.	.	0.070378	0.33944	T	-0.457125	0.01024	T	-0.586988	0.13927	T	.	.	.	.	.	.	0.10323624	0.24400	0.14533953	0.34472	0.10323624	0.24400	0.14533953	0.34471	-7.63	0.58520	D	.	.	0.183	0.39647	B	.	.	-0.080301	0.03761	0.784	0.81275159349733839	0.13605	0.02693	0.07333	N	AEFI	0.035173	0.04481	N	.	.	.	.	.	.	5.07277764287856E-6	0.01202	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	1.49	1.49	0.21966	-0.754000	0.04892	-1.869000	0.04581	0.213000	0.18003	0.001000	0.13787	0.000000	0.08366	0.011000	0.09372	0.0:1.0:0.0:0.0	6.460	0.21148	483	0.77230	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1	649.75	20	chr15	30084797	.	C	A	649.75	.	AC=1;AF=0.1;AN=10;BaseQRankSum=-3.713;DP=142;ExcessHet=0;FS=3.827;MLEAC=1;MLEAF=0.1;MQ=37.42;MQRankSum=-1.139;QD=15.47;ReadPosRankSum=0.479;SOR=0.202	GT:AD:DP:GQ:PL	0/1:20,22:42:99:659,0,634	4	0	1	1
chr15	30922295	30922295	G	A	exonic	FAN1	.	nonsynonymous SNV	FAN1:NM_014967:exon8:c.G2113A:p.G705S	Interstitial nephritis, karyomegalic, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.875	0.321621443744	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	N	0.048871	1	0.81001	D	3.7	0.94612	H	-5.17	0.98809	D	-5.57	0.86372	D	0.904	0.90476	1.085	0.99049	D	0.973	0.99158	D	10	0.8966595	0.89021	D	0.321621	0.91491	D	0.875	0.96280	0.54	0.65161	0.866472051514	0.86517	0.7456934876750481	0.74515	0.497085312296	0.48199	0.755623817444	0.75279	T	0.349066	0.71697	T	0.530163	0.95171	D	0.523766	0.95099	D	0.997688293457031	0.92162	D	0.922708	0.71908	D	0.9262143	0.93859	0.81447786	0.89185	0.9262143	0.93860	0.81447786	0.89186	-13.006	0.89389	D	.	.	0.725	0.73996	P	.	.	5.199537	0.87222	29.2	0.99882222981789615	0.95813	0.97882	0.77839	D	AEFDGBCI	0.898326	0.84149	D	0.894148679686995	0.91470	10.90001	0.830750540504256	0.91843	11.09753	0.999999999999362	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.504199	0.09095	0	0.678554	0.66404	0	.	.	5.7	4.79	0.60909	9.999000	0.99362	9.832000	0.81868	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0696:0.0:0.9304:0.0	14.676	0.68592	830	0.39242	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	852.83	37	chr15	30922295	.	G	A	852.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.57;DP=235;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.7;ReadPosRankSum=1.02;SOR=0.676	GT:AD:DP:GQ:PL	0/1:25,33:58:99:863,0,580	5	0	1	0
chr15	33066576	33066576	A	G	exonic	FMN1	.	nonsynonymous SNV	FMN1:NM_001103184:exon1:c.T1309C:p.S437P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.118	0.0439174776103	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.269e-06	0.0003	8.328e-06	4.195e-06	3.048e-05	2.95e-06	2.14e-06	3.16e-06	2.28e-06	3.048e-05	0	0	0	0	0	7.335e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.65419	D	0.149	0.63918	T	0.999	0.90584	D	0.961	0.73157	D	0.013889	0.28700	N	0.367334	.	.	.	.	.	.	0.86	0.52416	T	-1.05	0.30140	N	0.667	0.67564	-0.3122	0.74643	T	0.279	0.65058	T	8	0.56316704	0.64902	D	0.043917	0.61227	D	0.118	0.32913	0.237	0.16760	0.692833615445	0.69019	.	.	0.0243119155432	0.02469	.	.	.	.	.	.	0.065645	0.60314	T	-0.143482	0.59815	T	0.97686767578125	0.71575	D	.	.	.	.	.	.	.	.	.	.	.	-11.775	0.83737	D	.	.	0.768	0.82694	P	.;.	.;.	1.889637	0.24000	16.23	0.99337903151617613	0.60051	0.70445	0.34593	D	AEFBCI	0.339556	0.43666	N	0.607978743589503	0.73679	6.005621	0.621611519535191	0.76513	6.504682	0.999997974355125	0.74766	0.554377	0.28877	0	0.59043	0.45803	0	0.602189	0.34648	0	0.542086	0.14980	0	.	.	5.96	5.96	0.96695	2.674000	0.46532	7.052000	0.57375	0.756000	0.94297	0.994000	0.38300	1.000000	0.68203	0.859000	0.40722	0.8664:0.0:0.0:0.1336	11.519	0.49792	718	0.55760	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	1176.82	82	chr15	33066576	.	A	G	1176.82	.	AC=3;AF=0.5;AN=6;BaseQRankSum=0.882;DP=456;ExcessHet=1.383;FS=211.078;MLEAC=4;MLEAF=0.667;MQ=60;MQRankSum=0;QD=5.03;ReadPosRankSum=-0.619;SOR=7.824	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:70,29:99:99:0|1:33066574_C_T:787,0,2339:33066574	0	0	3	3
chr15	33066577	33066577	C	G	exonic	FMN1	.	nonsynonymous SNV	FMN1:NM_001103184:exon1:c.G1308C:p.E436D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.121	0.0297600126912	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.862e-07	0.0001	0	1.379e-06	.	0	0	.	.	0	0	0	0	0	0	0	1.662e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.098	0.31834	T	0.298	0.32355	T	0.859	0.61523	P	0.569	0.58136	P	0.000805	0.41658	D	0.269242	.	.	.	.	.	.	0.34	0.59717	T	-1.06	0.27669	N	0.523	0.55280	-0.6555	0.62473	T	0.195	0.54913	T	8	0.3596483	0.52628	T	0.02976	0.52206	D	0.121	0.33580	0.179	0.08626	0.723881056707	0.72144	.	.	0.0215900956345	0.02143	.	.	.	.	.	.	-0.156676	0.27274	T	-0.46283	0.26291	T	0.960661649703979	0.65867	D	.	.	.	.	.	.	.	.	.	.	.	-8.241	0.62700	D	.	.	0.231	0.54353	B	.;.	.;.	0.926501	0.13016	9.521	0.9948329941711106	0.67014	0.72494	0.35481	D	AEFBCI	0.313711	0.41879	N	0.240855582260182	0.53189	3.48888	0.245955025105221	0.52420	3.416909	0.999871332870031	0.44625	0.554377	0.28877	0	0.59043	0.45803	0	0.602189	0.34648	0	0.542086	0.14980	0	.	.	5.96	3.06	0.34374	0.207000	0.17194	0.009000	0.13411	0.599000	0.40250	0.983000	0.35670	0.800000	0.26941	0.903000	0.43903	0.1331:0.5968:0.0:0.2702	5.341	0.15286	718	0.55760	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3333	1149.59	82	chr15	33066577	.	C	G	1149.59	.	AC=2;AF=0.333;AN=6;BaseQRankSum=-0.732;DP=457;ExcessHet=1.383;FS=213.105;MLEAC=3;MLEAF=0.5;MQ=60;MQRankSum=0;QD=4.87;ReadPosRankSum=-0.572;SOR=7.824	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:70,29:99:99:0|1:33066574_C_T:787,0,2339:33066574	1	0	2	3
chr15	33066579	33066579	C	T	exonic	FMN1	.	nonsynonymous SNV	FMN1:NM_001103184:exon1:c.G1306A:p.E436K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.219	0.0640291295364	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.172	0.63918	T	0.999	0.90584	D	0.984	0.76113	D	0.000805	0.41658	D	0.269242	.	.	.	.	.	.	0.21	0.61798	T	-1.7	0.49684	N	0.735	0.73826	-0.3008	0.74963	T	0.421	0.76630	T	8	0.7212701	0.73678	D	0.064029	0.69152	D	0.219	0.51417	0.231	0.15855	0.748136256137	0.74586	.	.	0.0231449100248	0.02349	.	.	.	.	.	.	0.142383	0.68551	D	-0.0332535	0.68153	D	0.952831566333771	0.63885	D	.	.	.	.	.	.	.	.	.	.	.	-12.099	0.85330	D	.	.	0.586	0.71819	P	.;.	.;.	2.594882	0.33671	19.41	0.99883603428231948	0.95892	0.93420	0.58169	D	AEFBCI	0.825608	0.74527	D	0.777670272844729	0.84690	8.359056	0.801274126872763	0.89881	10.16146	0.99999999999998	0.74766	0.554377	0.28877	0	0.59043	0.45803	0	0.602189	0.34648	0	0.542086	0.14980	0	.	.	5.96	5.96	0.96695	6.672000	0.74315	7.690000	0.65738	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.947000	0.49155	0.0:1.0:0.0:0.0	20.422	0.99051	718	0.55760	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2	335.34	82	chr15	33066579	.	C	T	335.34	.	AC=2;AF=0.2;AN=10;BaseQRankSum=-3.962;DP=493;ExcessHet=1.383;FS=169.888;MLEAC=2;MLEAF=0.2;MQ=60;MQRankSum=0;QD=1.41;ReadPosRankSum=-0.494;SOR=7.427	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:77,21:98:99:0|1:33066574_C_T:104,0,2896:33066574	3	0	2	1
chr15	33066580	33066580	C	G	exonic	FMN1	.	nonsynonymous SNV	FMN1:NM_001103184:exon1:c.G1305C:p.K435N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.261	0.097882166908	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.37e-06	3.42e-06	0	2.755e-06	2.52e-05	2.3e-07	9e-08	.	.	0	0	0	2.52e-05	0	0	8.999e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.154	0.70582	T	1.0	0.90584	D	0.999	0.97372	D	0.000001	0.62929	D	0.096983	.	.	.	.	.	.	-0.38	0.72458	T	-2.13	0.59389	N	0.608	0.62526	0.078	0.83767	D	0.453	0.78650	T	8	0.56676614	0.65094	D	0.097882	0.76848	D	0.261	0.57352	0.305	0.27485	0.831138789675	0.82953	.	.	0.0235372491196	0.02386	.	.	.	.	.	.	-0.0593099	0.43016	T	-0.322971	0.42248	T	0.990393579006195	0.80614	D	.	.	.	.	.	.	.	.	.	.	.	-10.821	0.78667	D	.	.	0.891	0.85423	P	.;.	.;.	1.014109	0.13930	10.49	0.99542673395090209	0.70586	0.65955	0.32912	D	AEFBCI	0.401493	0.47596	N	0.357394877581215	0.59132	4.09007	0.32151679407882	0.56807	3.84457	0.999972656303353	0.50053	0.554377	0.28877	0	0.59043	0.45803	0	0.602189	0.34648	0	0.542086	0.14980	0	.	.	5.96	4.1	0.47196	-0.266000	0.08660	-0.170000	0.11235	0.599000	0.40250	0.526000	0.27158	0.290000	0.24159	0.957000	0.51019	0.0:0.7827:0.0:0.2173	10.418	0.43521	718	0.55760	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3333	335.59	84	chr15	33066580	.	C	G	335.59	.	AC=2;AF=0.333;AN=6;BaseQRankSum=-3.206;DP=487;ExcessHet=1.383;FS=166.227;MLEAC=3;MLEAF=0.5;MQ=60;MQRankSum=0;QD=1.42;ReadPosRankSum=-0.414;SOR=7.378	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:76,21:97:99:0|1:33066574_C_T:107,0,2854:33066574	1	0	2	3
chr15	33066583	33066583	C	G	exonic	FMN1	.	nonsynonymous SNV	FMN1:NM_001103184:exon1:c.G1302C:p.E434D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.205	0.0174432321193	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.234	0.18061	T	0.252	0.29056	T	0.724	0.62824	P	0.292	0.58300	B	0.000000	0.84330	D	0.049723	.	.	.	.	.	.	1.03	0.48142	T	-0.87	0.23590	N	0.263	0.29774	-0.6821	0.61275	T	0.170	0.51052	T	8	0.18176183	0.33423	T	0.017443	0.39139	T	0.205	0.49236	0.196	0.10839	0.633120732306	0.63011	.	.	0.0215900956345	0.02143	.	.	.	.	.	.	-0.101551	0.36169	T	-0.383648	0.35295	T	0.987011551856995	0.77596	D	.	.	.	.	.	.	.	.	.	.	.	-7.933	0.60613	D	.	.	0.457	0.69267	A	.;.	.;.	1.631232	0.20829	14.93	0.99234608538238822	0.56342	0.62108	0.31682	D	AEFBCI	0.207444	0.33361	N	0.193011064254835	0.50863	3.272384	0.226642513300989	0.51332	3.316546	0.999944989826091	0.47345	0.554377	0.28877	0	0.59043	0.45803	0	0.602189	0.34648	0	0.542086	0.14980	0	.	.	5.96	4.1	0.47196	0.147000	0.16021	1.800000	0.28874	0.599000	0.40250	0.988000	0.36536	1.000000	0.68203	0.964000	0.52637	0.0:0.7464:0.0:0.2536	10.665	0.44923	718	0.55760	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2	320.34	88	chr15	33066583	.	C	G	320.34	.	AC=2;AF=0.2;AN=10;BaseQRankSum=-2.153;DP=478;ExcessHet=1.383;FS=173.452;MLEAC=2;MLEAF=0.2;MQ=60;MQRankSum=0;QD=1.45;ReadPosRankSum=0.395;SOR=5.992	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:66,21:89:99:.:.:112,0,2809:.	3	0	2	1
chr15	40356190	40356255	CCCCCTGGCCATGGCCCAGGGCCCTGCGGGCCACCCCCCCACCATGGTCCAGGGCCCTGCGGGCCT	-	exonic	PHGR1	.	nonframeshift deletion	PHGR1:NM_001145643:exon3:c.136_201del:p.P53_G74del	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.083e-06	3.482e-06	3.203e-06	4.997e-06	4.051e-05	1.2e-06	8.7e-07	5.08e-06	1.9e-06	0	0	0	4.051e-05	0	0	2.046e-06	0	3.06e-05	2.78e-05	2.161e-05	2.648e-05	2.924e-05	5.903e-05	4.61e-06	1.73e-06	.	.	5.903e-05	0	0	0	0	0.0003	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	714.23	29	chr15	40356189	.	ACCCCCTGGCCATGGCCCAGGGCCCTGCGGGCCACCCCCCCACCATGGTCCAGGGCCCTGCGGGCCT	A	714.23	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.941;DP=341;ExcessHet=1.383;FS=26.684;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=4.36;ReadPosRankSum=2.78;SOR=1.609	GT:AD:DP:GQ:PL	0/1:32,25:57:99:724,0,937	5	0	1	0
chr15	40953794	40953794	C	T	exonic	CHAC1	.	nonsynonymous SNV	CHAC1:NM_001142776:exon1:c.C211T:p.H71Y,CHAC1:NM_024111:exon1:c.C211T:p.H71Y	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.528	0.240142455418	.	0.000798722	0.0006	0.0001	9.078e-05	0	0	0	0	0.0046	0.0004657	72	154602	rs545520387	0.0002	0.0002	0.0001	0.0003	0.0032	0.0002	0.0002	0.0029	0.0027	0	4.511e-05	0	0	0	0	0	0.0003	0.0032	9.847e-05	9.842e-05	3.853e-05	0.0002	0.0031	6.001e-05	4.875e-05	0.0019	0.0016	0	0	0	0	0	0	0	0	0	0.0031	.	.	.	0.014	0.62352	D	.	.	.	.	.	.	0.000000	0.84330	D	0.047110	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.915	0.91736	-0.1558	0.78774	T	0.393	0.74619	T	10	0.029024154	0.01030	T	0.240142	0.88661	D	0.528	0.80067	0.793	0.91438	0.818860324178	0.81715	.	.	1.64318045062	0.89398	0.760634541512	0.76023	T	.	.	.	-0.00431519	0.51058	T	0.219552	0.84153	D	0.187026982081099	0.19668	T	0.850515	0.53399	D	0.5916151	0.72239	0.39177683	0.63939	0.5916151	0.72240	0.39177683	0.63939	-9.426	0.71375	D	.	.	0.523	0.65603	A	.;.;.;.	.;.;.;.	4.773200	0.77289	26.7	0.99796203698855668	0.88106	0.95038	0.63212	D	ALL	0.864628	0.78348	D	0.906820301852215	0.92088	11.22751	0.85805997741909	0.93478	12.06928	1.0	0.98316	0.65757	0.49021	0	0.706955	0.78570	0	0.52208	0.10781	0	0.492483	0.08430	1	.	.	5.42	5.42	0.78666	7.284000	0.78011	7.538000	0.60033	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:1.0:0.0:0.0	19.407	0.94640	150	0.94078	.;Gamma-glutamyl cyclotransferase-like;Gamma-glutamyl cyclotransferase-like;Gamma-glutamyl cyclotransferase-like	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001008	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.000000	0.08333	816.83	40	chr15	40953794	.	C	T	816.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-3.21;DP=236;ExcessHet=0;FS=6.523;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=15.41;ReadPosRankSum=0.524;SOR=0.192	GT:AD:DP:GQ:PL	0/1:22,31:53:99:827,0,664	5	0	1	0
chr15	42685477	42685477	-	ACCCCATT	exonic	STARD9	.	frameshift insertion	STARD9:NM_020759:exon23:c.3899_3900insACCCCATT:p.E1304Pfs*10	.	432	1070	14	0	6	20	0.00649954	.	.	.	703197	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	.	.	.	.	0.0005	0	0	0	0	0.0011	0.0045	0	7.12e-05	11	154602	rs775583719	0.0012	0.0011	0.0011	0.0014	0.0035	0.0012	0.0011	0.0029	0.0028	0.0016	0.0007	0.0012	2.811e-05	0.0004	0.0035	0.0011	0.0019	0.0033	0.0028	0.0029	0.0030	0.0026	0.0046	0.0026	0.0025	0.0035	0.0034	0.0023	0.0022	0.0018	0.0009	0	0.0002	0.0034	0.0039	0.0057	0.0046	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	4643.79	37	chr15	42685477	.	A	AACCCCATT	4643.79	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-3.95;DP=673;ExcessHet=0;FS=0.447;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=17.33;ReadPosRankSum=-0.954;SOR=0.643	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:127,141:268:99:0|1:42685477_A_AACCCCATT:4654,0,4242:42685477	5	0	1	0
chr15	42685478	42685478	-	TGAGCTCCAA	exonic	STARD9	.	stopgain	STARD9:NM_020759:exon23:c.3900_3901insTGAGCTCCAA:p.P1301*	.	450	458	440	156	18	770	0.450839	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0005	0	0	0	0	0.0012	0.0047	0	3.84e-05	1	26028	rs760755023	0.0012	0.0011	0.0010	0.0013	0.0035	0.0011	0.0011	0.0029	0.0028	0.0004	0.0006	0.0012	2.803e-05	0.0004	0.0035	0.0011	0.0018	0.0032	0.0023	0.0024	0.0026	0.0021	0.0046	0.0021	0.0020	0.0035	0.0034	0.0005	0.0022	0.0016	0.0009	0	0.0002	0.0034	0.0039	0.0057	0.0046	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	9139.05	37	chr15	42685478	.	G	GTGAGCTCCAA	9139.05	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.797;DP=763;ExcessHet=0.4139;FS=1.1;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=15.36;ReadPosRankSum=-1.907;SOR=0.611	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:127,141:268:99:0|1:42685477_A_AACCCCATT:4654,0,4243:42685477	5	0	1	0
chr15	43021291	43021291	A	G	exonic	UBR1	.	nonsynonymous SNV	UBR1:NM_174916:exon27:c.T2924C:p.I975T	Johanson-Blizzard syndrome, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.352	0.0568671016026	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1287101894	1.386e-06	1.508e-05	0	2.783e-06	2.329e-05	2.3e-07	9e-08	3.87e-06	1.45e-06	0	0	0	0	0	0	0	0	2.329e-05	6.571e-06	6.567e-06	0	1.345e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.002	0.72154	D	0.003	0.76473	D	0.877	0.48223	P	0.335	0.42239	B	0.000088	0.51296	D	0.168957	0.999825	0.81001	D	1.87	0.49600	L	0.39	0.57419	T	-3.24	0.65171	D	0.897	0.90251	-0.5780	0.65696	T	0.227	0.59208	T	10	0.901292	0.89490	D	0.056867	0.66759	D	0.352	0.67326	0.75	0.88071	0.700849342337	0.69825	0.45486979996443216	0.45404	0.331662542844	0.35236	0.694372951984	0.66333	T	0.758848	0.93451	D	0.0949073	0.63738	D	-0.00459463	0.70038	D	0.908208012580872	0.56272	D	0.962104	0.85685	D	0.3664358	0.58321	0.44078487	0.67385	0.3664358	0.58321	0.44078487	0.67385	-7.526	0.57793	D	0.803226725685942	0.87956	0.531	0.66670	A	.;.	.;.	3.868307	0.56145	23.7	0.99495853286271851	0.67744	0.99753	0.99211	D	AEFBI	0.836665	0.75439	D	0.56937207432988	0.71269	5.625336	0.579739048421578	0.73488	5.978799	0.999853971234939	0.44174	0.706548	0.73137	0	0.653731	0.59785	0	0.65145	0.50148	0	0.714379	0.83352	0	.	.	4.83	4.83	0.61880	8.293000	0.89858	11.232000	0.90136	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	1.0:0.0:0.0:0.0	14.856	0.69969	15	0.98792	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1667	156.08	103	chr15	43021291	.	A	G	156.08	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-3.213;DP=444;ExcessHet=0.4139;FS=114.415;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=0.89;ReadPosRankSum=0.463;SOR=9	GT:AD:DP:GQ:PL	0/1:52,21:73:48:48,0,896	4	0	2	0
chr15	43526584	43526584	G	A	exonic	MAP1A	.	nonsynonymous SNV	MAP1A:NM_002373:exon4:c.G5111A:p.R1704Q	.	0	225	1	0	0	1	0.00221729	.	.	.	2722954	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.070	0.00839327428099	8.1e-05	.	8.308e-05	0	0	0	0	4.512e-05	0	0.0004	7.12e-05	11	154602	rs368929949	3.762e-05	3.762e-05	3.131e-05	4.4e-05	0.0005	2.96e-05	2.656e-05	0.0003	0.0003	0	2.236e-05	0	0	1.873e-05	0	4.496e-06	0.0001	0.0005	2.628e-05	2.627e-05	2.569e-05	2.69e-05	0.0004	8.14e-06	5.14e-06	7.279e-05	3.025e-05	0	0	6.541e-05	0	0	0	0	1.47e-05	0	0.0004	0.0	0.91255	D	0.249	0.24840	T	1.0	0.90584	D	0.951	0.68939	D	.	.	.	.	0.827393	0.28804	N	2.05	0.56469	M	4.61	0.01851	T	-0.94	0.25118	N	0.432	0.47115	-1.0257	0.21853	T	0.015	0.05994	T	9	0.10539845	0.19480	T	0.008393	0.22206	T	0.070	0.20419	.	.	0.376089632046	0.37223	0.20264761633170875	0.20181	0.806184163407	0.66472	0.59560585022	0.52284	T	0.058985	0.30992	T	-0.337757	0.05545	T	-0.400975	0.33271	T	0.216398047653528	0.21283	T	0.844715	0.52235	T	0.2873499	0.51746	0.19588417	0.43290	0.2873499	0.51746	0.19588417	0.43289	-1.608	0.02000	T	.	.	0.110	0.21011	B	.;.	.;.	4.434099	0.68789	25.3	0.99879232730868495	0.95572	0.85238	0.44353	D	AEFDGBI	0.262312	0.38008	N	0.424954393583174	0.62798	4.50179	0.409795425132791	0.62173	4.428534	0.999999898410487	0.74766	0.625279	0.40028	0	0.588066	0.40923	0	0.602189	0.34648	0	0.59522	0.37078	0	.	.	4.42	4.42	0.52775	2.362000	0.43823	7.633000	0.62825	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.984000	0.60418	0.193:0.0:0.807:0.0	6.580	0.21783	19	0.98577	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1331.83	57	chr15	43526584	.	G	A	1331.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=3.6;DP=345;ExcessHet=0;FS=2.609;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.45;ReadPosRankSum=1.42;SOR=0.777	GT:AD:DP:GQ:PL	0/1:51,48:99:99:1342,0,1160	5	0	1	0
chr15	43599215	43599215	G	A	exonic	CKMT1B	.	nonsynonymous SNV	CKMT1B:NM_001375484:exon9:c.G1196A:p.R399H,CKMT1B:NM_020990:exon10:c.G1196A:p.R399H	.	419	1059	43	1	0	45	0.0208044	.	.	.	703223	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.141	.	0.0061	0.0117812	0.0067	0.0052	0.0031	0	0.0005	0.0059	0.0088	0.0195	0.0061836	956	154602	rs149544188	0.0070	0.0070	0.0065	0.0075	0.0190	0.0069	0.0068	0.0183	0.0180	0.0039	0.0029	0.0011	2.519e-05	0.0006	0.0106	0.0070	0.0065	0.0190	0.0059	0.0059	0.0058	0.0060	0.0219	0.0056	0.0054	0.0185	0.0172	0.0050	0.0154	0.0045	0.0017	0.0002	0.0003	0.0068	0.0071	0.0033	0.0219	0.011	0.55530	D	0.048	0.48594	D	.	.	.	.	.	.	0.000043	0.53742	D	0.156324	0.999779	0.81001	D	.	.	.	2.73	0.11839	T	-2.43	0.53258	N	0.456	0.49328	-1.0646	0.10642	T	0.028	0.11795	T	10	0.012996405	0.00277	T	.	.	.	0.141	0.37795	.	.	0.440077040801	0.43627	0.5025941048459912	0.50181	1.05160835918	0.76172	0.5574041605	0.46901	T	.	.	.	-0.426914	0.01548	T	-0.371073	0.36763	T	0.0285378306420102	0.01766	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.	.;.	5.059779	0.84328	28.3	0.99341316789047662	0.60170	0.97026	0.72262	D	AEFGI	0.783221	0.71427	D	0.153610576451665	0.48984	3.103933	0.208122804756733	0.50297	3.223305	0.0384732486356425	0.14349	0.732398	0.92422	0	0.588015	0.36545	0	0.743671	0.96076	0	0.542086	0.14980	0	.	.	4.03	4.03	0.46115	2.516000	0.45181	10.006000	0.83069	0.616000	0.49467	0.999000	0.42656	1.000000	0.68203	0.997000	0.79791	0.0:0.0:1.0:0.0	15.682	0.77130	10	0.99061	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.014099	0.000000	0.006793	0.020468	0.000000	0.008621	0.018293	0.034091	0.08333	1057.83	33	chr15	43599215	.	G	A	1057.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.465;DP=315;ExcessHet=0;FS=2.537;MLEAC=1;MLEAF=0.083;MQ=55.06;MQRankSum=-0.02;QD=9.53;ReadPosRankSum=0.967;SOR=0.445	GT:AD:DP:GQ:PL	0/1:64,47:111:99:1068,0,1657	5	0	1	0
chr15	43600624	43600624	C	A	exonic	STRC	.	nonsynonymous SNV	STRC:NM_153700:exon26:c.G4903T:p.V1635F	Deafness, autosomal recessive 16, Autosomal recessive	2	1494	26	0	0	26	0.00862641	.	.	.	230563	not_specified|STRC-related_disorder|not_provided	MedGen:CN169374|.|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.310	0.68426316111	0.0002	.	0.0011	0.0004	0.0003	0	0.0005	0.0009	0	0.0041	0.0011061	171	154602	rs2915791	0.0003	0.0035	0.0002	0.0003	0.0011	0.0002	0.0002	0.0010	0.0009	0.0003	4.478e-05	0.0001	0	0	0.0004	0.0002	0.0003	0.0011	0.0008	0.0022	0.0009	0.0007	0.0051	0.0007	0.0006	0.0035	0.0030	0.0006	0.0022	0.0002	0	0	0	0	0.0010	0.0009	0.0051	0.11	0.29158	T	0.023	0.57104	D	0.573	0.60036	P	0.165	0.57283	B	0.721024	0.09934	N	0.836584	1	0.81001	D	.	.	.	-1.05	0.76690	T	-0.58	0.17624	N	0.519	0.54932	-0.2102	0.77409	T	0.478	0.80002	T	9	0.11853805	0.22412	T	0.684263	0.97389	D	0.310	0.63162	.	.	0.753645140278	0.75141	0.6565447405899285	0.65590	.	.	0.43855664134	0.30380	T	0.064201	0.32372	T	0.0143853	0.53622	T	-0.217113	0.53014	T	0.281153917312622	0.24220	T	0.590441	0.21717	T	0.11808676	0.27828	0.096214235	0.22852	0.12998167	0.30342	0.11341362	0.27371	-8.815	0.66499	D	0.3956736979913532	0.48823	0.160	0.35288	B	.;.	.;.	3.234298	0.44118	21.9	0.98070163054786075	0.38023	0.85159	0.44268	D	AEFBI	0.398309	0.47404	N	0.105459158857106	0.46716	2.90786	0.133687704735429	0.46282	2.876808	0.00735261414150442	0.11446	0.553676	0.25195	0	0.588015	0.36545	0	0.54472	0.12158	0	0.530356	0.10902	0	.	.	4.75	3.83	0.43287	1.209000	0.31963	2.767000	0.34644	0.547000	0.25779	0.998000	0.41325	0.990000	0.31317	0.984000	0.60418	0.0:0.8996:0.0:0.1004	9.045	0.35505	10	0.99061	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.003021	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.015152	0.08333	48.83	69	chr15	43600624	.	C	A	48.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.25;DP=483;ExcessHet=0;FS=5.714;MLEAC=1;MLEAF=0.083;MQ=58.41;MQRankSum=-9.118;QD=0.52;ReadPosRankSum=-0.163;SOR=1.85	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:86,8:94:59:0|1:43600609_G_A:59,0,3466:43600609	5	0	1	0
chr15	45108074	45108074	C	T	exonic	DUOX2	.	nonsynonymous SNV	DUOX2:NM_001363711:exon13:c.G1547A:p.R516H,DUOX2:NM_014080:exon13:c.G1547A:p.R516H	Thyroid dyshormonogenesis 6, Autosomal recessive	0	1521	1	0	0	1	0.000328623	.	.	YES	1354268	not_specified|not_provided|Thyroid_dyshormonogenesis_6	MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0011792,MedGen:C1846632,OMIM:607200,Orphanet:95716	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.672	0.164244919683	0.0003	0.000599042	0.0001	0.0011	0	0	0	4.5e-05	0	0	0.0001294	20	154602	rs143818717	4.994e-05	4.994e-05	5.99e-05	3.988e-05	0.0012	4.059e-05	3.734e-05	0.0009	0.0008	0.0012	8.944e-05	0	2.519e-05	0	0	2.068e-05	6.623e-05	1.159e-05	0.0003	0.0003	0.0003	0.0002	0.0008	0.0002	0.0002	0.0006	0.0005	0.0008	0	0.0003	0	0	0	0	1.471e-05	0	0	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.725	0.94815	H	-1.21	0.78645	T	-4.53	0.78388	D	0.899	0.91852	0.496	0.90491	D	0.625	0.86796	D	9	0.5373441	0.63523	D	0.164245	0.84340	D	0.672	0.87868	.	.	0.916113025476	0.91527	0.8284642214615898	0.82804	0.410623561839	0.41840	0.734249830246	0.72128	T	0.344819	0.90463	T	0.139235	0.68253	D	0.358402	0.90642	D	0.748047471046448	0.43177	D	0.945705	0.79334	D	0.92579263	0.93817	0.8077276	0.88756	0.92579263	0.93818	0.8077276	0.88757	-8.24	0.62694	D	0.8197985288597882	0.89302	0.339	0.55849	B	.;.	.;.	5.374884	0.90099	31	0.99946602041513988	0.99913	0.98951	0.89073	D	AEFDBI	0.935788	0.93115	D	1.012471904488	0.96115	14.31881	0.932119310237094	0.96826	15.19865	0.999999999999411	0.74766	0.497415	0.19182	0	0.59043	0.45803	0	0.578056	0.29568	0	0.530356	0.10902	0	.	.	5.47	5.47	0.80345	7.708000	0.83603	7.714000	0.66958	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.990000	0.65344	0.0:1.0:0.0:0.0	18.321	0.90178	596	0.68392	Dual oxidase, peroxidase domain;Dual oxidase, peroxidase domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	847.83	33	chr15	45108074	.	C	T	847.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.872;DP=239;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.25;ReadPosRankSum=1.77;SOR=0.641	GT:AD:DP:GQ:PL	0/1:29,35:64:99:858,0,698	5	0	1	0
chr15	60466706	60466706	T	C	exonic	ICE2	.	nonsynonymous SNV	ICE2:NM_001018089:exon5:c.A5G:p.K2R,ICE2:NM_001276385:exon5:c.A416G:p.K139R,ICE2:NM_024611:exon5:c.A416G:p.K139R	.	473	1012	31	6	0	43	0.0208031	.	.	.	247103	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.086	.	0.0034	0.00319489	0.0046	0.0006	0.0050	0	0.0017	0.0053	0.0123	0.0076	0.0042626	659	154602	rs141469235	0.0039	0.0039	0.0036	0.0042	0.0375	0.0038	0.0038	0.0334	0.0318	0.0009	0.0041	0.0116	0	0.0007	0.0375	0.0036	0.0053	0.0071	0.0034	0.0034	0.0034	0.0034	0.0060	0.0032	0.0031	0.0047	0.0043	0.0006	0	0.0056	0.0150	0	0.0003	0.0374	0.0044	0.0076	0.0060	0.132	0.28395	T	0.0	0.92824	D	0.011	0.15914	B	0.039	0.23607	B	0.000010	0.62929	N	0.143624	0.881205	0.28217	N	.	.	.	.	.	.	-1.16	0.38734	N	0.347	0.40565	-1.0173	0.24592	T	0.075	0.30086	T	9	0.0048990846	0.00105	T	.	.	.	0.086	0.25016	.	.	0.286465849087	0.28247	0.4481480065615123	0.44732	0.0322991013755	0.03370	0.416876375675	0.27408	T	0.195622	0.55175	T	-0.426762	0.01551	T	-0.381645	0.35531	T	0.00878286187625186	0.00108	T	0.627737	0.24333	T	0.073002785	0.16280	0.107430704	0.25862	0.073002785	0.16280	0.107430704	0.25861	-4.082	0.25024	T	.	.	0.096	0.16054	B	.;.;.;.	.;.;.;.	2.417906	0.31083	18.64	0.98980303629935873	0.49720	0.86475	0.45763	D	AEGBI	0.271256	0.38715	N	-0.568224593425859	0.19916	1.046035	-0.378723331715035	0.25632	1.41081	0.999987160530296	0.51787	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	6.11	3.82	0.43153	2.645000	0.46287	1.930000	0.29765	-0.118000	0.14412	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:0.1301:0.0:0.8699	11.454	0.49414	923	0.18507	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.030746	0.020408	0.038043	0.035088	0.050000	0.060345	0.021341	0.015152	0.1667	1216.06	33	chr15	60466706	.	T	C	1216.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=1.53;DP=199;ExcessHet=0.4139;FS=2.147;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=17.37;ReadPosRankSum=-0.964;SOR=1.091	GT:AD:DP:GQ:PL	0/1:16,25:41:99:720,0,387	4	0	2	0
chr15	70057655	70057655	G	A	exonic	TLE3	.	nonsynonymous SNV	TLE3:NM_001282982:exon11:c.C860T:p.S287L,TLE3:NM_001105192:exon13:c.C1055T:p.S352L,TLE3:NM_001282979:exon13:c.C1055T:p.S352L,TLE3:NM_001282980:exon13:c.C1064T:p.S355L,TLE3:NM_001282981:exon13:c.C1034T:p.S345L,TLE3:NM_005078:exon13:c.C1064T:p.S355L,TLE3:NM_020908:exon13:c.C1028T:p.S343L	.	.	.	.	.	.	.	.	.	.	.	2731992	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.103	0.0153864122453	.	.	2.806e-05	0	0	0	0	5.257e-05	0	0	3.84e-05	1	26028	rs759781735	1.13e-05	1.231e-05	1.399e-05	8.555e-06	0.0002	6.69e-06	5.41e-06	0.0001	7.464e-05	0	0.0002	0	0	0	0	5.48e-06	1.695e-05	1.227e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.311	0.14694	T	0.297	0.22828	T	0.0	0.30857	B	0.0	0.27321	B	0.798057	0.06752	N	1.133610	0.999894	0.81001	D	0.525	0.13617	N	0.97	0.53088	T	-1.39	0.34397	N	0.525	0.59732	-1.0534	0.13466	T	0.088	0.33913	T	10	0.15640876	0.30235	T	0.015386	0.36094	T	0.103	0.29403	0.44	0.49484	0.151262610727	0.14761	0.4630908183473034	0.46228	0.445921823785	0.44471	0.64677631855	0.59527	T	0.267413	0.63945	T	-0.0468832	0.44919	T	-0.305121	0.44180	T	0.215918451547623	0.21258	T	0.936406	0.80429	D	0.07663365	0.17344	0.10945263	0.26379	0.07663365	0.17343	0.10945263	0.26379	-7.159	0.59375	T	.	.	0.215	0.48675	B	.;.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.;.	5.096652	0.85133	28.5	0.99758415883191331	0.84851	0.98550	0.83987	D	AEFDBCI	0.905510	0.85712	D	-0.142458984624524	0.35557	2.043833	0.0940501732597609	0.44250	2.710306	0.999999999998958	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.39	5.39	0.77615	9.432000	0.96721	11.757000	0.95541	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.928000	0.46473	0.0:0.0:1.0:0.0	19.145	0.93448	964	0.07719	.;.;.;.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	429.83	42	chr15	70057655	.	G	A	429.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.549;DP=144;ExcessHet=0;FS=3.151;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.87;ReadPosRankSum=0.14;SOR=0.317	GT:AD:DP:GQ:PL	0/1:13,18:31:99:440,0,333	5	0	1	0
chr15	71215183	71215183	G	A	exonic	THSD4	.	nonsynonymous SNV	THSD4:NM_024817:exon3:c.G248A:p.R83H	.	428	1093	1	0	0	1	0.000457247	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.051	0.0332311065777	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1283157884	5.769e-06	6.225e-05	1.615e-06	1.01e-05	7.256e-05	2.4e-06	1.54e-06	2.392e-05	1.44e-05	0	0	0	0	0	0	1.006e-06	4.087e-05	7.256e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.093	0.31532	T	0.103	0.49663	T	0.66	0.40908	P	0.152	0.34249	B	0.385880	0.13324	N	0.685718	1	0.08975	N	0.58	0.15352	N	2.23	0.18083	T	-0.32	0.12283	N	0.083	0.05929	-1.0676	0.09948	T	0.035	0.14857	T	10	0.056700736	0.06396	T	0.033231	0.54833	D	0.051	0.14325	0.332	0.31843	0.0884992946249	0.08302	0.25187323939045764	0.25101	0.23243451758	0.25788	0.734321475029	0.72138	T	0.017827	0.14480	T	-0.314331	0.07372	T	-0.689291	0.06430	T	0.0337056588967102	0.02588	T	0.678632	0.28733	T	0.030746661	0.02791	0.048544817	0.07233	0.030746661	0.02790	0.048544817	0.07232	-2.54	0.06061	T	.	.	0.089	0.18247	B	.;.	.;.	2.033037	0.25837	16.91	0.91858826167218555	0.21173	0.08501	0.14422	N	AEFDBHCI	0.070645	0.14031	N	-0.64935839862503	0.17479	0.8997907	-0.709346911430071	0.16728	0.8862845	0.999872130604533	0.44625	0.580535	0.33130	0	0.547309	0.14657	0	0.294263	0.05558	2	0.604944	0.38103	0	.	.	4.34	3.41	0.38145	0.898000	0.28035	3.579000	0.39150	0.357000	0.20036	0.003000	0.16062	0.581000	0.25622	0.935000	0.47363	0.0:0.2039:0.7961:0.0	10.164	0.42044	700	0.57880	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	72.83	35	chr15	71215183	.	G	A	72.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.74;DP=135;ExcessHet=0;FS=2.632;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=6.62;ReadPosRankSum=-0.381;SOR=0.991	GT:AD:DP:GQ:PL	0/1:8,3:11:83:83,0,184	5	0	1	0
chr15	81322461	81322461	C	T	exonic	STARD5	.	nonsynonymous SNV	STARD5:NM_181900:exon3:c.G229A:p.V77M	.	429	1088	5	0	0	5	0.00229253	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.071	0.0597360022304	0.0057	0.00199681	0.0053	0.0015	0.0043	0	0.0080	0.0076	0.0099	0.0008	0.0055239	854	154602	rs138923627	0.0072	0.0072	0.0073	0.0072	0.0085	0.0071	0.0070	0.0083	0.0083	0.0013	0.0019	0.0040	0	0.0083	0.0026	0.0085	0.0059	0.0010	0.0049	0.0049	0.0052	0.0045	0.0084	0.0046	0.0045	0.0078	0.0076	0.0017	0.0022	0.0010	0.0061	0	0.0054	0	0.0084	0.0019	0.0002	0.098	0.30800	T	0.101	0.38596	T	0.444	0.35956	B	0.055	0.25995	B	0.592850	0.11032	N	0.826633	1	0.08975	N	1.385	0.34509	L	-1.78	0.83737	D	-0.4	0.13805	N	0.343	0.38438	-0.7375	0.58581	T	0.273	0.64515	T	10	0.010636598	0.00236	T	0.059736	0.67764	D	0.219	0.51417	.	.	0.69773716983	0.69512	0.27686567014136493	0.27599	0.196326814967	0.21991	0.3354139328	0.15750	T	0.111281	0.42665	T	-0.422162	0.01657	T	-0.368795	0.37030	T	0.00615744866149236	0.00068	T	0.875013	0.58582	D	0.15914816	0.35765	0.10459949	0.25127	0.15914816	0.35765	0.10459949	0.25126	-4.3	0.28177	T	.	.	0.128	0.27343	B	.	.	2.628235	0.34173	19.55	0.98726751472176033	0.45289	0.48765	0.28281	N	AEFDBCI	0.117195	0.22969	N	-0.248072187610428	0.31179	1.745807	-0.212073263361236	0.31101	1.757036	0.999952129943829	0.48110	0.646311	0.45356	0	0.581341	0.33841	0	0.645312	0.48771	0	0.655142	0.61905	0	.	.	5.51	3.18	0.35615	2.587000	0.45793	3.125000	0.36417	0.599000	0.40250	0.969000	0.34210	0.072000	0.22236	0.714000	0.34579	0.0:0.7006:0.169:0.1304	7.949	0.29163	900	0.24599	START domain|START domain|START domain	.	.	.	.	rs138923627	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1342.83	34	chr15	81322461	.	C	T	1342.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.079;DP=321;ExcessHet=0;FS=2.155;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=9.59;ReadPosRankSum=-0.579;SOR=0.633	GT:AD:DP:GQ:PL	0/1:80,60:140:99:1353,0,1943	5	0	1	0
chr15	89776903	89776915	AGGGCAGGGGCAG	0	exonic	MESP2	.	.	.	Spondylocostal dysostosis 2, autosomal recessive	68	42	561	596	255	2008	0.954273	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	4264.94	39	chr15	89776903	.	AGGGCAGGGGCAG	*	4264.94	.	AC=6;AF=0.5;AN=12;DP=215;ExcessHet=0;FS=0;MLEAC=6;MLEAF=0.5;MQ=60;QD=24.8;SOR=0.894	GT:AD:DP:GQ:PGT:PID:PL:PS	1|0:0,8:29:99:1|0:89776889_GAGGGGCAGGGGCAAGGGCAGGGGC_G:1192,838,813:89776889	2	2	2	0
chr15	98649616	98649616	C	T	exonic	IGF1R	.	nonsynonymous SNV	IGF1R:NM_000875:exon1:c.C35T:p.S12L,IGF1R:NM_001291858:exon1:c.C35T:p.S12L	Insulin-like growth factor I, resistance to, Autosomal recessive, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.118	0.150548048912	.	.	8.415e-06	0	0	0.0001	0	0	0	0	6.5e-06	1	154602	rs774479139	3.429e-06	3.42e-06	1.365e-06	5.513e-06	0.0002	1e-06	7.3e-07	1.796e-05	8.98e-06	0	6.771e-05	0	0	0	0.0002	9.004e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.662	0.04802	T	0.936	0.02725	T	0.0	0.02946	B	0.0	0.01387	B	0.379621	0.13408	U	0.606264	0.933158	0.27003	N	-1.1	0.00987	N	-0.78	0.73631	T	1.27	0.00985	N	0.11	0.09631	-0.9819	0.34561	T	0.106	0.38783	T	10	0.075326085	0.11628	T	0.150548	0.83222	D	0.118	0.32913	0.353	0.35246	0.526536621021	0.52300	0.4717715276315944	0.47096	0.546491555766	0.51644	0.715169668198	0.69342	T	0.346743	0.71496	T	-0.206408	0.19887	T	-0.36181	0.37843	T	0.218301504850388	0.21379	T	0.79922	0.44465	T	0.08238223	0.18976	0.08914913	0.20830	0.08238223	0.18975	0.08914913	0.20830	-2.211	0.04094	T	.	.	0.083	0.09094	B	.;.;.;.	.;.;.;.	2.906512	0.38538	20.8	0.95899649801582276	0.28128	0.20005	0.20879	N	AEFDGBHCI	0.073952	0.14808	N	-0.610388372549388	0.18632	0.9688525	-0.390718111576509	0.25272	1.388829	0.999999999336497	0.74766	0.766844	0.99359	0	0.609123	0.50646	0	0.851219	0.99655	0	0.372554	0.06265	0	.	.	3.72	2.78	0.31702	1.371000	0.33855	4.315000	0.42981	0.506000	0.23061	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.7385:0.0:0.2615	4.660	0.12025	981	0.03995	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	566.83	41	chr15	98649616	.	C	T	566.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.79;DP=212;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.88;ReadPosRankSum=-0.261;SOR=0.686	GT:AD:DP:GQ:PL	0/1:19,25:44:99:577,0,348	5	0	1	0
chr16	548057	548057	C	T	exonic	CAPN15	.	nonsynonymous SNV	CAPN15:NM_005632:exon4:c.C1219T:p.R407C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.175	0.160844737568	.	0.000199681	6.231e-05	0	0	0	0	0.0001	0	0	1.94e-05	3	154602	rs561151762	2.076e-05	2.257e-05	2.545e-05	1.596e-05	2.516e-05	1.457e-05	1.26e-05	1.503e-05	1.263e-05	0	0	0	0	0	0	2.222e-05	5.201e-05	2.516e-05	1.969e-05	1.968e-05	2.569e-05	1.343e-05	0.0002	5.24e-06	2.45e-06	.	.	2.406e-05	0	0	0	0	0	0	1.47e-05	0	0.0002	0.132	0.26519	T	0.059	0.45961	T	0.004	0.12183	B	0.001	0.04355	B	0.594435	0.05610	N	1.338600	0.999838	0.20152	N	1.04	0.26193	L	-2.55	0.89561	D	-2.02	0.46503	N	0.197	0.21710	-0.4865	0.69133	T	0.537	0.82868	D	10	0.06366378	0.08326	T	0.160845	0.84076	D	0.175	0.44197	0.406	0.43902	0.0675242888579	0.06100	0.445726204898726	0.44490	.	.	0.523996651173	0.42189	T	0.026005	0.19333	T	-0.388056	0.02768	T	-0.598221	0.12961	T	0.0586680725790068	0.06957	T	0.80172	0.44782	T	0.06986614	0.15343	0.05189354	0.08443	0.06986614	0.15343	0.05189354	0.08443	-5.51	0.41961	T	.	.	0.112	0.21987	B	.	.	1.864209	0.23680	16.11	0.98454114183508112	0.41654	0.17905	0.20037	N	AEFBI	0.109367	0.21725	N	-0.816865916717592	0.12879	0.6307116	-0.826662785797401	0.13850	0.7206791	0.74502589857276	0.23271	0.67177	0.52595	0	0.702456	0.74545	0	0.723109	0.80598	0	0.635551	0.53088	0	.	.	4.61	3.62	0.40616	0.996000	0.29320	1.477000	0.26794	0.535000	0.24933	0.021000	0.19753	0.999000	0.35428	0.028000	0.12845	0.0:0.792:0.0:0.208	7.567	0.27050	798	0.45050	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1261.83	35	chr16	548057	.	C	T	1261.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.049;DP=266;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=15.39;ReadPosRankSum=0.671;SOR=0.602	GT:AD:DP:GQ:PL	0/1:35,47:82:99:1272,0,896	5	0	1	0
chr16	1571518	1571518	A	T	exonic	IFT140	.	nonsynonymous SNV	IFT140:NM_014714:exon14:c.T1541A:p.L514H	Short-rib thoracic dysplasia 9 with or without polydactyly, Autosomal recessive	6	1481	32	3	0	38	0.0126667	.	.	YES	272286	not_specified|Saldino-Mainzer_syndrome|IFT140-related_disorder|not_provided	MedGen:CN169374|MONDO:MONDO:0009964,MedGen:C1849437,OMIM:266920,Orphanet:140969|.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.455	.	0.0017	0.00199681	0.0043	0.0005	0.0008	0	0.0153	0.0049	0.0044	0.0046	0.0037516	580	154602	rs150903791	0.0029	0.0029	0.0029	0.0030	0.0231	0.0029	0.0028	0.0199	0.0187	0.0011	0.0010	0.0031	2.519e-05	0.0150	0.0231	0.0024	0.0030	0.0040	0.0030	0.0030	0.0022	0.0038	0.0044	0.0028	0.0027	0.0029	0.0024	0.0003	0	0.0014	0.0029	0	0.0195	0.0340	0.0025	0.0028	0.0044	0.002	0.72154	D	0.004	0.74150	D	1.0	0.90584	D	0.979	0.74454	D	0.000077	0.52346	D	0.081002	0.999981	0.54805	D	2.505	0.72935	M	0.26	0.59314	T	-2.9	0.60827	D	0.597	0.61596	-0.1682	0.78472	T	0.402	0.75288	T	10	0.011529267	0.00251	T	.	.	.	0.455	0.75415	.	.	0.908992176636	0.90808	0.4920386895560723	0.49124	0.152153152439	0.17166	0.756964325905	0.75478	T	0.179384	0.53035	T	-0.291607	0.09475	T	-0.191383	0.55460	T	0.0393382414440502	0.03572	T	0.817118	0.47377	T	0.58520865	0.71892	0.6023714	0.76894	0.58520865	0.71893	0.6023714	0.76895	-10.822	0.78672	D	0.4651949327611722	0.54666	0.201	0.42520	B	.	.	4.586692	0.72512	25.8	0.98270478578074383	0.39759	0.90525	0.51773	D	AEFBI	0.496167	0.53122	N	0.771636998223519	0.84304	8.250805	0.73884982458984	0.85323	8.545912	0.891748504960808	0.25867	0.706298	0.61202	0	0.633656	0.55848	0	0.709663	0.75317	0	0.683762	0.67416	0	.	.	5.77	5.77	0.91077	5.826000	0.68980	10.948000	0.84382	0.751000	0.87719	1.000000	0.71638	1.000000	0.68203	0.945000	0.48827	1.0:0.0:0.0:0.0	15.749	0.77734	616	0.66398	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.023162	0.005051	0.023098	0.043860	0.050000	0.025862	0.018293	0.011364	0.08333	724.83	33	chr16	1571518	.	A	T	724.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.721;DP=218;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=18.12;ReadPosRankSum=0.858;SOR=0.738	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:21,19:40:99:0|1:1571517_G_T:735,0,804:1571517	5	0	1	0
chr16	2764546	2764546	G	T	exonic	SRRM2	.	nonsynonymous SNV	SRRM2:NM_016333:exon11:c.G4018T:p.G1340C	.	427	1094	1	0	0	1	0.00045683	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.041	0.00565604261989	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.42e-06	3.42e-06	4.084e-06	2.75e-06	0.0005	1e-06	7.3e-07	0.0001	7.541e-05	2.987e-05	0	0	0	0	0.0005	0	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.084	0.41239	T	0.001	0.07471	B	0.001	0.04355	B	0.047189	0.01969	U	2.908340	1	0.08975	N	0	0.06538	N	1.87	0.24085	T	-0.08	0.08187	N	0.181	0.19593	-1.0115	0.26447	T	0.036	0.15334	T	10	0.050860524	0.04881	T	0.005656	0.14621	T	0.041	0.10877	0.159	0.06287	0.124217242631	0.12060	0.112645657264346	0.11193	.	.	0.278019070625	0.07217	T	0.086893	0.37823	T	-0.242562	0.15024	T	-0.5862	0.13997	T	0.0900794294284495	0.11228	T	0.466353	0.13696	T	0.20239106	0.42283	0.05369827	0.09097	0.20239106	0.42282	0.05369827	0.09096	-5.13	0.38221	T	.	.	0.091	0.13268	B	.	.	1.027513	0.14072	10.64	0.93408250283808447	0.23170	0.28348	0.23529	N	AEFGBCI	0.106092	0.21179	N	-1.09487326050926	0.06737	0.3109914	-1.07817687731283	0.08131	0.3984396	0.999906385531297	0.45458	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	6.01	-0.122	0.12871	-0.462000	0.06781	0.957000	0.22964	-0.113000	0.14837	0.000000	0.06391	0.162000	0.23270	0.088000	0.17685	0.2343:0.1218:0.3953:0.2486	1.282	0.01918	784	0.47045	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	1575.83	78	chr16	2764546	.	G	T	1575.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-3.135;DP=441;ExcessHet=0;FS=4.514;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.35;ReadPosRankSum=-0.376;SOR=0.386	GT:AD:DP:GQ:PL	0/1:53,65:118:99:1586,0,1405	5	0	1	0
chr16	2966796	2966796	G	A	splicing	KREMEN2	NM_024507:exon5:c.640+1G>A;NM_001253726:exon5:c.523+1G>A;NM_001253725:exon5:c.523+1G>A;NM_172229:exon5:c.640+1G>A	.	.	.	.	.	.	.	.	.	.	1.0000	0.854	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1445963984	2.761e-06	2.748e-06	1.374e-06	4.161e-06	4.664e-05	6.5e-07	4.4e-07	1.589e-05	9.34e-06	0	0	0	0	0	0	0	0	4.664e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.127134	0.67081	D	-0.0551568	0.66669	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.;.;.;.	.;.;.;.;.;.	5.868233	0.93883	33	0.98910529971911676	0.48363	0.87187	0.46651	D	AEFDBCI	.	.	.	0.970808478804533	0.94775	13.02903	0.778385864154196	0.88251	9.513424	0.999999998892591	0.74766	0.079558	0.02119	0	0.079893	0.02001	0	0.068936	0.01964	0	0.085113	0.02366	1	0.95871	0.64713	4.79	4.79	0.60909	7.350000	0.78633	8.402000	0.77108	0.576000	0.29215	1.000000	0.71638	1.000000	0.68203	0.870000	0.41412	0.0:0.0:1.0:0.0	15.390	0.74451	867	0.32089	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	333.83	39	chr16	2966796	.	G	A	333.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.724;DP=230;ExcessHet=0;FS=2.531;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=7.1;ReadPosRankSum=-0.742;SOR=0.609	GT:AD:DP:GQ:PL	0/1:30,17:47:99:344,0,763	5	0	1	0
chr16	3068238	3068238	C	T	exonic	IL32	.	nonsynonymous SNV	IL32:NM_001012636:exon4:c.C173T:p.P58L,IL32:NM_001012634:exon5:c.C140T:p.P47L,IL32:NM_001012635:exon5:c.C140T:p.P47L,IL32:NM_001308078:exon5:c.C338T:p.P113L,IL32:NM_001369587:exon5:c.C338T:p.P113L,IL32:NM_001369588:exon5:c.C338T:p.P113L,IL32:NM_001369591:exon5:c.C140T:p.P47L,IL32:NM_001369592:exon5:c.C140T:p.P47L,IL32:NM_001369593:exon5:c.C170T:p.P57L,IL32:NM_001369595:exon5:c.C140T:p.P47L,IL32:NM_001369596:exon5:c.C200T:p.P67L,IL32:NM_001012632:exon6:c.C200T:p.P67L,IL32:NM_001012633:exon6:c.C200T:p.P67L,IL32:NM_001012718:exon6:c.C200T:p.P67L,IL32:NM_001376923:exon6:c.C200T:p.P67L,IL32:NM_004221:exon6:c.C200T:p.P67L,IL32:NM_001012631:exon7:c.C200T:p.P67L,IL32:NM_001369589:exon7:c.C200T:p.P67L	.	417	1081	24	0	0	24	0.010979	0.0002	0.042	.	703639	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.089	.	0.0035	0.00299521	0.0060	0.0008	0.0120	0	0.0007	0.0073	0.0182	0.0051	0.0032341	500	154602	rs141583132	0.0036	0.0036	0.0036	0.0036	0.0118	0.0035	0.0035	0.0096	0.0088	0.0011	0.0030	0.0095	0	0.0013	0.0118	0.0037	0.0045	0.0033	0.0029	0.0029	0.0029	0.0029	0.0040	0.0027	0.0026	0.0036	0.0035	0.0012	0.0011	0.0031	0.0069	0	0.0012	0.0034	0.0040	0.0052	0.0037	0.007	0.63226	D	1.0	0.12246	T	0.002	0.14655	B	0.01	0.14941	B	.	.	.	.	1	0.08975	N	0	0.06538	N	-0.75	0.73311	T	-3.69	0.84601	D	0.09	0.20262	-1.0508	0.14175	T	0.096	0.36159	T	9	0.0057647824	0.00137	T	.	.	.	0.089	0.25827	.	.	0.371157983038	0.36729	0.00396477721922768	0.00371	0.110558448003	0.12480	0.552215576172	0.46171	T	0.04808	0.33969	T	-0.45423	0.01066	T	-0.424293	0.30584	T	0.0166208605860135	0.00422	T	0.642236	0.25428	T	0.03586808	0.04304	0.062980935	0.12406	0.03586808	0.04303	0.062980935	0.12406	-4.723	0.39456	T	.	.	0.194	0.56231	B	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	-0.570557	0.01654	0.116	0.36303562391683897	0.02328	0.00216	0.01224	N	AEFBI	0.041015	0.06178	N	-1.77802557302646	0.00601	0.025904	-1.86218700591529	0.00580	0.02575188	0.999983698407311	0.51787	0.706548	0.73137	0	0.581341	0.33841	0	0.602189	0.34648	0	0.714379	0.83352	0	.	.	1.9	-3.8	0.04025	-2.506000	0.01038	.	.	-2.318000	0.00317	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1859:0.3022:0.0:0.5119	3.824	0.08362	748	0.52143	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.009202	0.005495	0.008152	0.011765	0.000000	0.000000	0.015528	0.003846	0.08333	726.83	35	chr16	3068238	.	C	T	726.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.76;DP=262;ExcessHet=0;FS=0.975;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.92;ReadPosRankSum=1.34;SOR=0.518	GT:AD:DP:GQ:PL	0/1:29,32:61:99:737,0,691	5	0	1	0
chr16	3589229	3589229	G	-	exonic	SLX4	.	frameshift deletion	SLX4:NM_032444:exon12:c.4409delC:p.P1470Rfs*37	Fanconi anemia, complementation group P, Autosomal recessive	0	1519	2	0	1	3	0.000657895	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.395e-06	0	0	0	0	0	0	6.458e-05	6.5e-06	1	154602	rs758584521	2.058e-06	2.052e-06	1.363e-06	2.761e-06	0.0003	5.5e-07	1.5e-07	6.115e-05	2.53e-05	0	0	0	0	0	0.0003	0	0	1.161e-05	1.314e-05	1.312e-05	2.571e-05	0	0.0004	2.18e-06	8.2e-07	7.296e-05	3.031e-05	0	0	0	0	0	0	0	0	0	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	838.79	71	chr16	3589228	.	CG	C	838.79	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.12;DP=297;ExcessHet=0;FS=2.228;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.53;ReadPosRankSum=1.79;SOR=1.112	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:39,23:62:99:0|1:3589228_CG_C:849,0,1567:3589228	5	0	1	0
chr16	3589234	3589244	GCGACAGTCAC	-	exonic	SLX4	.	frameshift deletion	SLX4:NM_032444:exon12:c.4394_4404del:p.R1465Lfs*33	Fanconi anemia, complementation group P, Autosomal recessive	0	1520	2	0	0	2	0.000657462	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.424e-06	0	0	0	0	0	0	6.573e-05	3.84e-05	1	26028	rs766416146	2.059e-06	2.052e-06	1.364e-06	2.762e-06	0.0003	5.5e-07	1.5e-07	6.121e-05	2.532e-05	0	0	0	0	0	0.0003	0	0	1.161e-05	1.315e-05	1.313e-05	2.572e-05	0	0.0004	2.18e-06	8.2e-07	7.293e-05	3.03e-05	0	0	0	0	0	0	0	0	0	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	825.79	71	chr16	3589233	.	AGCGACAGTCAC	A	825.79	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.7;DP=295;ExcessHet=0;FS=2.137;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.51;ReadPosRankSum=2.22;SOR=1.002	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:43,23:66:99:0|1:3589228_CG_C:836,0,1725:3589228	5	0	1	0
chr16	3664410	3664410	-	CGG	exonic	TRAP1	.	nonframeshift insertion	TRAP1:NM_001272049:exon12:c.1273_1274insCCG:p.S424_G425insA,TRAP1:NM_016292:exon13:c.1432_1433insCCG:p.S477_G478insA	.	436	1057	29	0	0	29	0.0135324	.	.	.	714907	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	.	.	0.0036	0.00499201	0.0071	0.0008	0.0046	0	0.0007	0.0059	0.0116	0.0222	0.004111	107	26028	rs201472428	0.0061	0.0061	0.0055	0.0066	0.0210	0.0059	0.0059	0.0202	0.0198	0.0009	0.0029	0.0068	0	0.0008	0.0123	0.0056	0.0059	0.0210	0.0041	0.0041	0.0038	0.0045	0.0203	0.0039	0.0037	0.0170	0.0158	0.0009	0.0110	0.0039	0.0055	0	0.0004	0.0034	0.0057	0.0052	0.0203	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.010101	0.000000	0.005450	0.017544	0.000000	0.000000	0.009317	0.026515	0.08333	906.79	33	chr16	3664410	.	C	CCGG	906.79	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.466;DP=205;ExcessHet=0;FS=1.238;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=23.25;ReadPosRankSum=-0.286;SOR=0.963	GT:AD:DP:GQ:PL	0/1:16,23:39:99:917,0,603	5	0	1	0
chr16	4677555	4677555	G	C	exonic	MGRN1	.	nonsynonymous SNV	MGRN1:NM_001142289:exon11:c.G1048C:p.E350Q,MGRN1:NM_001142290:exon11:c.G1048C:p.E350Q,MGRN1:NM_001142291:exon11:c.G1048C:p.E350Q,MGRN1:NM_015246:exon11:c.G1048C:p.E350Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.282	0.0115031022553	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.024	0.49613	D	0.068	0.44106	T	0.127	0.30086	B	0.322	0.41795	B	0.000000	0.84330	D	0.044369	0.985855	0.40344	D	0	0.06538	N	1.48	0.32482	T	-1.04	0.27259	N	0.393	0.44187	-1.0014	0.29516	T	0.065	0.26737	T	10	0.2730443	0.44851	T	0.011503	0.29187	T	0.282	0.59981	0.158	0.06178	0.276065633971	0.27208	0.5331555419338603	0.53240	0.0594457063886	0.06608	0.553624153137	0.46368	T	0.134784	0.46623	T	-0.237569	0.15660	T	-0.579028	0.14632	T	0.768218457698822	0.44332	D	0.962554	0.86020	D	0.18580608	0.39961	0.13805577	0.32981	0.18580608	0.39960	0.13805577	0.32980	-6.941	0.54471	T	.	.	0.133	0.48736	B	.;.;.;.;.;.	.;.;.;.;.;.	4.520609	0.70871	25.6	0.99129935336601926	0.53222	0.97674	0.76325	D	AEFDBCIJ	0.937145	0.93449	D	0.0285498019715362	0.43156	2.614161	0.186652180136518	0.49116	3.118659	0.999999999999616	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	5.39	5.39	0.77615	9.953000	0.98977	11.774000	0.95935	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.469000	0.28319	0.0:0.0:1.0:0.0	17.736	0.88299	693	0.58582	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	652.83	33	chr16	4677555	.	G	C	652.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.329;DP=226;ExcessHet=0;FS=5.785;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.8;ReadPosRankSum=-0.877;SOR=0.517	GT:AD:DP:GQ:PL	0/1:25,26:51:99:663,0,646	5	0	1	0
chr16	8936595	8936595	G	A	exonic	USP7	.	nonsynonymous SNV	USP7:NM_001286457:exon1:c.C19T:p.L7F	.	429	1086	6	1	0	8	0.00366972	.	.	.	1693672	not_provided|USP7-related_disorder	MedGen:C3661900|.	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.089	0.123852680253	.	0.000199681	0.0011	0	0	0	0.0024	0.0017	0.0031	0.0001	0.0006856	106	154602	rs113545079	0.0010	0.0010	0.0009	0.0010	0.0021	0.0009	0.0009	0.0012	0.0010	9.319e-05	0.0001	0	0	0.0024	0.0021	0.0011	0.0008	0.0002	0.0009	0.0009	0.0009	0.0009	0.0013	0.0008	0.0008	0.0011	0.0010	0.0001	0	0.0003	0	0	0.0035	0	0.0013	0.0009	0.0004	0.081	0.33418	T	0.144	0.33109	T	.	.	.	.	.	.	0.001397	0.39175	N	0.242133	1	0.81001	D	.	.	.	3.15	0.07820	T	-0.56	0.17003	N	0.253	0.28616	-0.9606	0.39068	T	0.090	0.34573	T	8	0.013087332	0.00279	T	0.123853	0.80510	D	0.089	0.25827	.	.	0.209943299407	0.20609	.	.	.	.	.	.	.	.	.	.	-0.492927	0.00627	T	-0.50546	0.21783	T	0.0148374833379074	0.00313	T	0.512349	0.16405	T	.	.	.	.	.	.	.	.	-5.226	0.39205	T	.	.	0.083	0.09433	B	.	.	2.211106	0.28211	17.72	0.99674770848886496	0.78846	0.62790	0.31889	D	ALL	0.295405	0.40553	N	0.202237863777064	0.51309	3.31304	0.251641472669942	0.52742	3.447101	0.999999999993702	0.74766	0.693307	0.56506	0	0.020172	0.00044	3	0.658952	0.52864	0	0.636	0.56748	0	.	.	4.24	4.24	0.49486	2.313000	0.43395	7.466000	0.59102	0.672000	0.70159	1.000000	0.71638	0.999000	0.35428	0.825000	0.38878	0.0:0.0:1.0:0.0	12.448	0.54997	851	0.35303	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.08333	703.83	44	chr16	8936595	.	G	A	703.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.425;DP=307;ExcessHet=0;FS=0.813;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=7.73;ReadPosRankSum=-0.234;SOR=0.574	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:57,34:91:99:0|1:8936587_C_G:714,0,1479:8936587	5	0	1	0
chr16	14582206	14582206	G	C	exonic	PARN	.	nonsynonymous SNV	PARN:NM_001242992:exon16:c.C1029G:p.C343W,PARN:NM_001134477:exon17:c.C984G:p.C328W,PARN:NM_002582:exon17:c.C1167G:p.C389W	Dyskeratosis congenita, autosomal recessive 6, Autosomal recessive;Pulmonary fibrosis and/or bone marrow failure, telomere-related, 4, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.641	0.443768951762	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0007	0.0022	0.0008	0.0006	0.0009	0.0007	0.0007	0.0008	0.0008	0.0005	4.476e-05	0.0001	0.0003	0	0.0002	0.0009	0.0006	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.815	0.81989	M	1.91	0.47477	T	-9.08	0.98168	D	0.906	0.93370	-0.6388	0.63197	T	0.257	0.62766	T	10	0.95576084	0.94937	D	0.443769	0.94214	D	0.641	0.86333	0.808	0.92512	0.389283895039	0.38539	0.7594861977466015	0.75896	0.721414007513	0.62234	0.886558771133	0.94825	D	0.366013	0.73134	T	0.23211	0.76920	D	0.0956334	0.76619	D	0.997612833976746	0.91988	D	0.970303	0.89317	D	0.96886563	0.98153	0.88045895	0.93594	0.96886563	0.98153	0.88045895	0.93594	-17.118	0.99008	D	.	.	0.999	0.98765	P	.;.;.;.	.;.;.;.	3.616746	0.51161	23.1	0.9928480025877614	0.58043	0.87022	0.46439	D	AEFBI	0.686411	0.64809	D	0.0378907468480801	0.43587	2.648657	-0.0492109747885764	0.37524	2.19827	0.0661472356186695	0.15384	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.81	0.019	0.13441	0.292000	0.18766	1.715000	0.28221	-0.681000	0.04224	0.982000	0.35529	1.000000	0.68203	0.977000	0.56843	0.4191:0.0:0.5809:0.0	11.520	0.49794	731	0.54177	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.4167	767.5	148	chr16	14582206	.	G	C	767.5	.	AC=5;AF=0.417;AN=12;BaseQRankSum=-2.234;DP=891;ExcessHet=6.1542;FS=400.495;MLEAC=5;MLEAF=0.417;MQ=60;MQRankSum=0;QD=1.22;ReadPosRankSum=0.634;SOR=11.48	GT:AD:DP:GQ:PL	0/1:78,55:133:99:339,0,1166	1	0	5	0
chr16	15094161	15094161	C	T	exonic	RRN3	.	nonsynonymous SNV	RRN3:NM_001301064:exon1:c.G73A:p.G25S,RRN3:NM_018427:exon1:c.G73A:p.G25S	.	427	1083	12	0	0	12	0.00550964	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009	.	0.0003	0.000998403	0.0037	0.0002	0.0007	0	0	0.0005	0.0058	0.0163	0.0014553	225	154602	rs141593500	0.0008	0.0008	0.0005	0.0011	0.0108	0.0008	0.0008	0.0102	0.0100	8.997e-05	0.0002	0.0011	0	0	0.0028	0.0002	0.0011	0.0108	0.0005	0.0005	0.0004	0.0007	0.0079	0.0004	0.0004	0.0059	0.0052	7.211e-05	0.0230	0.0001	0.0009	0.0002	0	0	0.0002	0.0014	0.0079	0.173	0.22573	T	0.328	0.24264	T	0.001	0.07471	B	0.003	0.08700	B	.	.	.	.	0.972784	0.25582	N	0.205	0.09354	N	1.0	0.44856	T	-0.46	0.16598	N	0.178	0.38950	-0.9982	0.30423	T	0.041	0.17785	T	9	0.0033971071	0.00059	T	.	.	.	0.009	0.00846	.	.	0.221019684889	0.21715	0.3631434870457118	0.36228	0.181092240378	0.20367	0.382041484118	0.22546	T	0.036204	0.24016	T	-0.61982	0.00110	T	-0.65371	0.08696	T	0.0177835936647646	0.00507	T	0.739426	0.35812	T	0.03547814	0.04184	0.08590566	0.19868	0.03547814	0.04184	0.08590566	0.19868	-2.377	0.04994	T	.	.	0.109	0.25232	B	.;.;.;.	.;.;.;.	0.696820	0.10657	7.354	0.96784411736367804	0.31087	0.06024	0.11991	N	AEFDBHCIJ	0.051167	0.09013	N	-1.2549101405905	0.04235	0.1907461	-1.25215394002783	0.05099	0.2421701	0.999999946258885	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	3.13	1.07	0.19399	-0.172000	0.09858	-0.314000	0.10017	0.544000	0.25403	0.000000	0.06391	0.000000	0.08366	0.071000	0.16709	0.0:0.6849:0.0:0.3151	4.848	0.12886	584	0.69381	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001761	0.000000	0.001370	0.004464	0.000000	0.000000	0.000000	0.004098	0.08333	381.83	40	chr16	15094161	.	C	T	381.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.962;DP=242;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=7.49;ReadPosRankSum=-0.731;SOR=0.562	GT:AD:DP:GQ:PL	0/1:32,19:51:99:392,0,710	5	0	1	0
chr16	18533147	18533147	C	T	exonic	NOMO2	.	nonsynonymous SNV	NOMO2:NM_001004060:exon12:c.G1253A:p.R418H,NOMO2:NM_173614:exon12:c.G1253A:p.R418H	.	544	965	13	0	0	13	0.00669068	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.074	0.00559288308923	0.0010	0.000998403	0.0013	0.0002	0.0006	0	0	0.0018	0.0022	0.0016	0.0011255	174	154602	rs140359200	0.0017	0.0017	0.0017	0.0018	0.0075	0.0017	0.0017	0.0054	0.0047	0.0003	0.0007	0.0024	2.52e-05	0	0.0075	0.0019	0.0018	0.0020	0.0011	0.0011	0.0012	0.0010	0.0023	0.0010	0.0009	0.0015	0.0014	0.0002	0.0132	0.0003	0.0023	0	0	0	0.0018	0.0010	0.0023	0.211	0.21066	T	0.202	0.39492	T	0.014	0.16867	B	0.005	0.11217	B	0.000002	0.62929	D	0.060274	0.999995	0.58761	D	1.43	0.35840	L	3.68	0.04228	T	-1.19	0.30346	N	0.256	0.32148	-0.9780	0.35458	T	0.012	0.04558	T	10	0.0067940354	0.00154	T	0.005593	0.14439	T	0.074	0.21613	.	.	0.229264304666	0.22521	0.41393095197811686	0.41309	.	.	0.525905013084	0.42458	T	0.013152	0.11431	T	-0.516583	0.00460	T	-0.521288	0.20164	T	0.0300199047512515	0.01993	T	0.919208	0.70896	D	0.07670785	0.17367	0.046924885	0.06647	0.07670785	0.17366	0.046924885	0.06647	-7.14	0.57017	T	.	.	0.071	0.04517	B	.;.;.;.;.	.;.;.;.;.	3.429104	0.47650	22.5	0.98519515028065607	0.42447	0.92172	0.55105	D	AEFI	0.648077	0.62302	D	-0.251513117481904	0.31044	1.736803	-0.156545236330313	0.33157	1.893783	3.23886481115548E-4	0.06540	0.732398	0.92422	0	0.709663	0.81188	0	0.743671	0.96076	0	0.613276	0.41899	0	.	.	2.75	2.75	0.31439	4.178000	0.58079	4.843000	0.45303	0.291000	0.18778	1.000000	0.71638	1.000000	0.68203	0.788000	0.37229	0.0:0.8713:0.0:0.1287	7.249	0.25310	940	0.13648	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003567	0.000000	0.005479	0.004310	0.000000	0.000000	0.000000	0.008264	0.08333	2396.83	40	chr16	18533147	.	C	T	2396.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.58;DP=400;ExcessHet=0;FS=1.047;MLEAC=1;MLEAF=0.083;MQ=56.5;MQRankSum=-1.65;QD=10.94;ReadPosRankSum=-0.644;SOR=0.595	GT:AD:DP:GQ:PL	0/1:117,102:219:99:2407,0,2701	5	0	1	0
chr16	21117270	21117270	T	A	exonic	DNAH3	.	stopgain	DNAH3:NM_001347886:exon12:c.A1567T:p.K523X,DNAH3:NM_017539:exon12:c.A1747T:p.K583X	.	423	1098	1	0	0	1	0.000455166	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.344103	0.13917	N	0.698819	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.171	0.18239	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.433096	0.91686	D	0.384336	0.91583	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive	High	7.346328	0.96421	36	0.99118143281297844	0.52906	0.35656	0.25352	N	AEFBHCI	0.089516	0.18143	N	0.278941667058162	0.55082	3.672592	0.0530209007992241	0.42217	2.549788	0.997817644787445	0.36062	0.554377	0.28877	0	0.588066	0.40923	0	0.527494	0.11647	0	0.503917	0.08554	0	.	.	5.39	1.64	0.22949	1.131000	0.31019	1.411000	0.26280	-0.120000	0.14102	0.972000	0.34453	0.966000	0.29516	0.891000	0.42908	0.2897:0.1754:0.0:0.5349	3.511	0.07268	462	0.78611	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	447.83	34	chr16	21117270	.	T	A	447.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.404;DP=205;ExcessHet=0;FS=6.684;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.92;ReadPosRankSum=-0.887;SOR=1.296	GT:AD:DP:GQ:PL	0/1:21,20:41:99:458,0,470	5	0	1	0
chr16	22133039	22133039	C	A	exonic	VWA3A	.	nonsynonymous SNV	VWA3A:NM_173615:exon20:c.C2012A:p.A671D	.	429	1065	26	2	0	30	0.0138889	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.182	0.0208582834185	0.0002	0.000399361	0.0007	0	0.0002	0	0	0.0003	0.0048	0.0039	0.000608	94	154602	rs374069500	0.0004	0.0004	0.0002	0.0005	0.0049	0.0003	0.0003	0.0034	0.0031	0.0001	2.237e-05	0	5.038e-05	0	0.0049	0.0001	0.0006	0.0036	0.0003	0.0003	0.0002	0.0003	0.0033	0.0002	0.0002	0.0021	0.0017	0	0	0.0001	0	0.0002	0	0.0034	0.0002	0.0009	0.0033	0.016	0.53172	D	0.008	0.70582	D	0.999	0.77913	D	0.949	0.68658	D	0.000011	0.62929	D	0.064588	0.994438	0.81001	D	2.175	0.60977	M	2.08	0.49642	T	-3.36	0.75139	D	0.825	0.82057	-1.1573	0.00823	T	0.066	0.27260	T	10	0.016590983	0.00350	T	0.020858	0.43534	T	0.182	0.45420	.	.	0.381746406553	0.37788	0.7247431860439489	0.72418	0.290425186949	0.31450	0.509783446789	0.40192	T	0.052781	0.29257	T	-0.258757	0.13046	T	-0.146569	0.59547	T	0.101674999832226	0.12540	T	0.737426	0.35417	T	0.45108727	0.64109	0.3964381	0.64285	0.45108727	0.64110	0.3964381	0.64285	-15.395	0.96710	D	.	.	0.394	0.71148	A	.;.;.	.;.;.	3.539854	0.49704	22.8	0.99697703530154058	0.80385	0.77786	0.38287	D	AEFBI	0.238348	0.36049	N	0.42430062302623	0.62761	4.497519	0.415977930283627	0.62559	4.473425	0.00390546245915023	0.10332	0.497415	0.19182	0	0.59043	0.45803	0	0.573078	0.19857	0	0.542086	0.14980	0	.	.	5.49	5.49	0.81022	1.772000	0.38182	4.781000	0.44836	0.594000	0.32500	0.993000	0.37899	1.000000	0.68203	0.075000	0.16954	0.0:0.8375:0.0:0.1625	8.553	0.32621	447	0.79583	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.005539	0.000000	0.004076	0.008772	0.000000	0.017241	0.009146	0.003788	0.08333	404.83	34	chr16	22133039	.	C	A	404.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-3.224;DP=248;ExcessHet=0;FS=2.232;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=6.86;ReadPosRankSum=1.33;SOR=0.62	GT:AD:DP:GQ:PL	0/1:38,21:59:99:415,0,1133	5	0	1	0
chr16	29382896	29382896	G	C	exonic	NPIPB11	.	nonsynonymous SNV	NPIPB11:NM_001310137:exon8:c.C2036G:p.P679R	.	689	831	2	0	0	2	0.00120192	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	0.00338371275204	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs1319138889	0.0026	0.0026	0.0025	0.0026	0.0038	0.0025	0.0024	0.0034	0.0033	0.0013	0.0013	0.0021	0.0023	0.0044	0.0025	0.0024	0.0026	0.0038	0	0.0002	0	0	.	0	0	.	.	0	0	0	0	0	0	.	0	0	0	1.0	0.00964	T	0.722	0.05309	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	-0.975	0.01213	N	2.62	0.12988	T	0.99	0.01428	N	0.092	0.07125	-0.9788	0.35277	T	0.009	0.03315	T	5	0.016945839	0.00359	T	0.003384	0.07572	T	0.014	0.01968	0.225	0.14960	0.0920862733494	0.08535	8.989731297647607E-4	0.00082	.	.	.	.	.	0.002448	0.01836	T	-0.746762	0.00019	T	-0.858678	0.00857	T	0.00483012331644523	0.00052	T	0.392661	0.09777	T	0.13408391	0.31165	0.1301983	0.31290	0.13408391	0.31164	0.1301983	0.31289	-4.69	0.33283	T	.	.	0.113	0.22428	B	.	.	-0.188395	0.03150	0.510	0.36059330440144027	0.02298	0.00081	0.00551	N	AEFI	0.027544	0.02270	N	-1.58447936351063	0.01344	0.0585523	-1.68840555836015	0.01189	0.05353436	3.42973070349647E-5	0.03775	0.722319	0.85440	0	0.698795	0.70079	0	0.618467	0.43123	0	0.491896	0.07777	0	.	.	.	.	.	-1.293000	0.02878	-7.379000	0.01169	-1.143000	0.01438	0.002000	0.15269	0.000000	0.08366	0.002000	0.04165	.	.	.	774	0.48577	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	142.84	21	chr16	29382896	.	G	C	142.84	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.4;DP=141;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=40.91;MQRankSum=-1.902;QD=9.52;ReadPosRankSum=-1.279;SOR=0.368	GT:AD:DP:GQ:PL	0/1:9,6:15:99:153,0,242	5	0	1	0
chr16	29485598	29485598	A	G	exonic	NPIPB12	.	nonsynonymous SNV	NPIPB12:NM_001355401:exon8:c.T878C:p.L293P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.048	0.00150212232846	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1315122740	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.139e-05	9.735e-05	6.099e-05	0	0.0001	5.21e-06	1.95e-06	.	.	0	0	0.0001	0	0	0	0	2.956e-05	0	0	0.061	0.37118	T	0.236	0.24694	T	.	.	.	.	.	.	.	.	.	.	0.999998	0.08975	N	.	.	.	1.84	0.24656	T	-3.8	0.71762	D	0.363	0.40465	-1.0100	0.26917	T	0.053	0.22501	T	4	0.17462781	0.32352	T	0.001502	0.02318	T	0.048	0.13305	0.573	0.69695	0.43965937752	0.43585	.	.	.	.	.	.	.	.	.	.	-0.170465	0.25162	T	-0.482637	0.24166	T	0.208980127064429	0.20900	T	0.478952	0.18591	T	.	.	.	.	.	.	.	.	-8.118	0.61872	D	.	.	0.286	0.51815	B	.;.	.;.	1.249461	0.16459	12.55	0.38213908120439488	0.02564	0.00225	0.01265	N	AEFI	0.064475	0.12523	N	-0.761607943211659	0.14320	0.7123528	-0.999353090598067	0.09799	0.4896926	1.09520797775859E-6	0.01202	0.706298	0.61202	0	0.659464	0.62310	0	0.709663	0.75317	0	0.668105	0.65232	0	.	.	.	.	.	0.127000	0.15617	-5.574000	0.01670	0.145000	0.17680	0.028000	0.20300	0.000000	0.08366	0.028000	0.12845	.	.	.	749	0.51929	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1	249.7	36	chr16	29485598	.	A	G	249.7	.	AC=1;AF=0.1;AN=10;BaseQRankSum=-1.698;DP=456;ExcessHet=0;FS=3.103;MLEAC=1;MLEAF=0.1;MQ=36.57;MQRankSum=-0.117;QD=1.6;ReadPosRankSum=0.195;SOR=1.049	GT:AD:DP:GQ:PL	0/1:129,27:156:99:259,0,3460	4	0	1	1
chr16	29813701	29813701	C	T	exonic	PRRT2	.	nonsynonymous SNV	PRRT2:NM_001256442:exon2:c.C647T:p.P216L,PRRT2:NM_001256443:exon2:c.C647T:p.P216L,PRRT2:NM_145239:exon2:c.C647T:p.P216L	Convulsions, familial infantile, with paroxysmal choreoathetosis, Autosomal dominant;Episodic kinesigenic dyskinesia 1, Autosomal dominant;Seizures, benign familial infantile, 2, Autosomal dominant	0	1502	15	0	5	20	0.00496853	.	.	YES	102388	Seizure|Infantile_convulsions_and_choreoathetosis|Seizures,_benign_familial_infantile,_2|Episodic_kinesigenic_dyskinesia_1|Episodic_kinesigenic_dyskinesia|not_provided|Inborn_genetic_diseases|not_specified	Human_Phenotype_Ontology:HP:0001250,Human_Phenotype_Ontology:HP:0001275,Human_Phenotype_Ontology:HP:0001303,Human_Phenotype_Ontology:HP:0002125,Human_Phenotype_Ontology:HP:0002182,Human_Phenotype_Ontology:HP:0002279,Human_Phenotype_Ontology:HP:0002306,Human_Phenotype_Ontology:HP:0002348,Human_Phenotype_Ontology:HP:0002391,Human_Phenotype_Ontology:HP:0002417,Human_Phenotype_Ontology:HP:0002430,Human_Phenotype_Ontology:HP:0002431,Human_Phenotype_Ontology:HP:0002432,Human_Phenotype_Ontology:HP:0002434,Human_Phenotype_Ontology:HP:0002437,Human_Phenotype_Ontology:HP:0002466,Human_Phenotype_Ontology:HP:0002479,Human_Phenotype_Ontology:HP:0002794,Human_Phenotype_Ontology:HP:0006997,Human_Phenotype_Ontology:HP:0010520,MedGen:C0036572|MONDO:MONDO:0011178,MedGen:C1865926,OMIM:602066,Orphanet:31709|MONDO:MONDO:0011593,MedGen:C1853995,OMIM:605751,Orphanet:306|MONDO:MONDO:0100352,MedGen:C4552000,OMIM:128200,Orphanet:98809|MONDO:MONDO:0044202,MedGen:C1868682,OMIM:PS128200,Orphanet:98809|MedGen:C3661900|MeSH:D030342,MedGen:C0950123|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.341	.	0.0057	0.00239617	0.0077	0.0015	0.0013	0.0001	0.0137	0.0111	0.0043	0.0036	0.006507	1006	154602	rs76335820	0.0096	0.0095	0.0097	0.0095	0.0112	0.0095	0.0094	0.0110	0.0109	0.0011	0.0027	0.0007	0	0.0128	0.0027	0.0112	0.0063	0.0035	0.0063	0.0063	0.0066	0.0060	0.0097	0.0060	0.0059	0.0091	0.0089	0.0017	0	0.0041	0.0012	0	0.0130	0.0034	0.0097	0.0047	0.0039	0.0	0.91255	D	0.015	0.66756	D	0.991	0.67487	D	0.831	0.65474	P	0.007550	0.31331	N	0.303702	0.999938	0.51612	D	0.895	0.22405	L	-2.78	0.92667	D	0.38	0.06612	N	0.323	0.36464	0.402	0.89119	D	0.622	0.86676	D	10	0.008844793	0.00200	T	.	.	.	0.341	0.66297	.	.	0.976547370802	0.97629	0.3560511839605567	0.35519	0.863688015342	0.69086	0.577106118202	0.49677	T	0.021672	0.16835	T	-0.235469	0.15931	T	-0.100624	0.63350	T	0.0210694334475294	0.00809	T	0.838216	0.51127	T	0.22146279	0.44724	0.3419317	0.59926	0.19322316	0.41023	0.3408161	0.59829	-3.693	0.22152	T	0.4533608968774695	0.53679	0.181	0.62888	B	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	4.490871	0.70148	25.5	0.99884238346807741	0.95970	0.74011	0.36201	D	AEFBI	0.507554	0.53780	D	0.233231505349053	0.52814	3.453444	0.190139361039524	0.49306	3.135342	0.999999995407312	0.74766	0.766844	0.99359	0	0.514364	0.08380	0	0.851219	0.99655	0	0.613276	0.41899	0	.	.	3.9	3.9	0.44240	2.276000	0.43067	7.643000	0.63297	0.599000	0.40250	0.144000	0.23566	1.000000	0.68203	0.992000	0.67800	0.0:1.0:0.0:0.0	13.795	0.62654	258	0.89879	.;.;.;.;.;.;.;.;.	.	.	.	.	rs76335820	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.08333	434.83	34	chr16	29813701	.	C	T	434.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.428;DP=206;ExcessHet=0;FS=1.229;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.15;ReadPosRankSum=0.581;SOR=0.489	GT:AD:DP:GQ:PL	0/1:22,17:39:99:445,0,586	5	0	1	0
chr16	50669118	50669118	A	G	exonic	SNX20	.	nonsynonymous SNV	SNX20:NM_153337:exon4:c.T313C:p.Y105H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.056	0.00300890923964	.	.	5.021e-05	0	0	0	0	0	0	0.0001	6.5e-06	1	154602	rs775853805	4.49e-06	8.904e-06	1.484e-06	7.546e-06	6.413e-05	1.62e-06	1.06e-06	2.473e-05	1.56e-05	0	0	0	0	0	0	9.788e-07	0	6.413e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	.	.	.	0.68	0.51952	T	0.26	0.04380	N	0.105	0.08925	-1.0079	0.27572	T	0.075	0.30303	T	8	0.046744525	0.03904	T	0.003009	0.06457	T	0.056	0.15993	0.142	0.04556	0.17258766438	0.16869	.	.	.	.	.	.	.	.	.	.	-0.461988	0.00955	T	-0.705088	0.05552	T	0.0242726447613716	0.01180	T	.	.	.	.	.	.	.	.	.	.	.	-1.936	0.02949	T	.	.	.	.	.	.	.	0.168040	0.05572	2.031	0.21305222156409784	0.00806	0.00181	0.01060	N	AEFBHCI	0.018182	0.00532	N	-1.44978341585961	0.02218	0.09771435	-1.5702585569571	0.01840	0.08383224	0.999813033384949	0.43459	0.615465	0.37627	0	0.633656	0.55848	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	2.38	-2.28	0.06438	-0.030000	0.12257	0.108000	0.14741	-2.084000	0.00402	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.435:0.0:0.3459:0.2191	2.621	0.04619	763	0.50172	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	119.83	153	chr16	50669118	.	A	G	119.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-3.072;DP=498;ExcessHet=0;FS=210.868;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=1.07;ReadPosRankSum=1.08;SOR=7.903	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:97,15:112:99:0|1:50669118_A_G:130,0,3513:50669118	5	0	1	0
chr16	55810997	55810997	T	C	exonic	CES1	.	nonsynonymous SNV	CES1:NM_001025194:exon10:c.A1097G:p.Y366C,CES1:NM_001025195:exon10:c.A1100G:p.Y367C,CES1:NM_001266:exon10:c.A1094G:p.Y365C	Carboxylesterase 1 deficiency (3)	48	1451	22	1	0	24	0.00820232	.	.	.	3293315	not_provided|not_specified	MedGen:C3661900|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.180	0.0610627852147	0.0005	0.000399361	0.0008	0.0001	0.0014	0	0	0.0009	0.0011	0.0014	0.000815	126	154602	rs146595460	0.0006	0.0007	0.0006	0.0007	0.0232	0.0006	0.0006	0.0200	0.0188	0.0002	0.0017	3.83e-05	2.519e-05	1.873e-05	0.0232	0.0005	0.0016	0.0011	0.0007	0.0007	0.0008	0.0007	0.0018	0.0006	0.0006	0.0009	0.0007	0.0002	0	0.0010	0	0.0002	0	0.0216	0.0010	0.0021	0.0018	0.091	0.31834	T	0.139	0.36497	T	0.073	0.25085	B	0.067	0.31460	B	0.020799	0.26966	N	0.263259	1	0.08975	N	2.21	0.62235	M	-0.27	0.67367	T	-4.88	0.81514	D	0.619	0.63459	-0.7866	0.55927	T	0.248	0.61716	T	10	0.067707956	0.09472	T	0.061063	0.68209	D	0.180	0.45073	.	.	0.349647731962	0.34572	0.5888869046358343	0.58818	0.192353595073	0.21563	0.428192168474	0.28962	T	0.438382	0.78406	T	-0.385286	0.02884	T	-0.350841	0.39109	T	0.0287889939344479	0.01806	T	0.314169	0.08250	T	0.41461518	0.61731	0.35702112	0.61203	0.41461518	0.61732	0.35702112	0.61203	-5.588	0.63945	T	0.6357578900828309	0.70576	0.268	0.50232	B	.;.;.	.;.;.	1.116739	0.15023	11.52	0.56484486661834254	0.05562	0.04586	0.10236	N	AEFBI	0.392498	0.47052	N	-0.912229294996226	0.10555	0.504939	-0.968974354935353	0.10486	0.5284446	0.00248345263689058	0.09470	0.487112	0.14033	0	0.59043	0.45803	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	4.54	0.628	0.16854	-0.275000	0.08557	-10.792000	0.00665	-0.178000	0.10482	0.153000	0.23698	0.000000	0.08366	0.065000	0.16320	0.327:0.0:0.1696:0.5034	4.815	0.12728	928	0.17405	.;.;Carboxylesterase, type B	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.015106	0.030303	0.013587	0.023392	0.000000	0.017241	0.006098	0.003788	0.1667	2892.06	35	chr16	55810997	.	T	C	2892.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=1.77;DP=772;ExcessHet=0.4139;FS=0.584;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=5.45;ReadPosRankSum=0.161;SOR=0.75	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:154,84:238:99:0|1:55810997_T_C:1689,0,4829:55810997	4	0	2	0
chr16	55849715	55849715	G	T	exonic	CES5A	.	nonsynonymous SNV	CES5A:NM_001143685:exon11:c.C1332A:p.D444E,CES5A:NM_001190158:exon12:c.C1419A:p.D473E	.	431	1074	15	2	0	19	0.00876788	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.109	0.0267763963323	0.0003	0.000798722	0.0011	0.0004	0.0026	0	0	0.0012	0.0022	0.0011	0.0010543	163	154602	rs181438833	0.0009	0.0009	0.0009	0.0010	0.0376	0.0009	0.0009	0.0335	0.0319	0.0007	0.0039	0.0005	5.038e-05	3.746e-05	0.0376	0.0006	0.0022	0.0009	0.0010	0.0010	0.0009	0.0012	0.0019	0.0009	0.0009	0.0014	0.0012	0.0003	0	0.0019	0.0003	0	0	0.0748	0.0011	0.0057	0.0008	0.125	0.28395	T	0.136	0.42794	T	0.856	0.47190	P	0.492	0.47401	P	0.085412	0.20643	N	0.413513	1	0.08975	N	1.65	0.42232	L	-0.21	0.66294	T	-2.02	0.51157	N	0.268	0.37509	-0.9206	0.45472	T	0.198	0.55272	T	10	0.0059216022	0.00133	T	0.026776	0.49657	D	0.109	0.30843	0.397	0.42426	0.0482279557977	0.04254	0.10762139173764923	0.10691	0.191555154566	0.21486	0.344490289688	0.17107	T	0.100386	0.67485	T	-0.445695	0.01197	T	-0.414143	0.31748	T	0.0392730489088655	0.03559	T	0.564644	0.20837	T	0.05933704	0.12046	0.07330105	0.15914	0.05933704	0.12046	0.07330105	0.15914	-3.494	0.19082	T	.	.	0.167	0.39477	B	.;.;.;.;.	.;.;.;.;.	2.649325	0.34491	19.64	0.99206065601331617	0.55442	0.06738	0.12760	N	AEFDBI	0.075762	0.15222	N	-0.274428242612552	0.30139	1.677769	-0.378485646956165	0.25640	1.411247	3.83341854043478E-4	0.06781	0.487112	0.14033	0	0.563428	0.19063	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.29	3.18	0.35615	0.061000	0.14242	0.595000	0.19862	0.676000	0.76740	0.000000	0.06391	0.060000	0.22018	0.962000	0.52141	0.184:0.0:0.6341:0.1819	4.286	0.10302	929	0.16858	.;.;Carboxylesterase, type B;Carboxylesterase, type B;Carboxylesterase, type B	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.034240	0.050505	0.031250	0.067251	0.000000	0.060345	0.012195	0.003788	0.08333	835.83	34	chr16	55849715	.	G	T	835.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.452;DP=260;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.45;ReadPosRankSum=1.23;SOR=0.74	GT:AD:DP:GQ:PL	0/1:35,38:73:99:846,0,922	5	0	1	0
chr16	55852892	55852892	C	G	exonic	CES5A	.	nonsynonymous SNV	CES5A:NM_001143685:exon10:c.G1262C:p.R421P,CES5A:NM_145024:exon10:c.G1262C:p.R421P,CES5A:NM_001190158:exon11:c.G1349C:p.R450P	.	437	1068	15	1	1	18	0.00789596	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.229	0.00758740576736	0.0007	0.000798722	0.0013	0.0004	0.0025	0	0	0.0015	0.0022	0.0018	0.0012613	195	154602	rs147727760	0.0010	0.0010	0.0010	0.0011	0.0353	0.0010	0.0010	0.0312	0.0297	0.0007	0.0039	0.0041	5.04e-05	3.746e-05	0.0353	0.0007	0.0024	0.0013	0.0011	0.0011	0.0010	0.0013	0.0019	0.0010	0.0009	0.0014	0.0012	0.0003	0	0.0019	0.0043	0	0	0.0685	0.0011	0.0057	0.0010	0.003	0.72154	D	0.008	0.67890	D	0.077	0.49324	B	0.076	0.51788	B	0.978265	0.08111	N	0.985983	0.999995	0.08975	N	3.99	0.96693	H	3.06	0.08634	T	-3.49	0.68056	D	0.468	0.50418	-0.9376	0.42994	T	0.064	0.26597	T	10	0.012463182	0.00268	T	0.007587	0.20139	T	0.229	0.52916	.	.	0.0401082797425	0.02173	0.7536031567397384	0.75307	0.243668225337	0.26869	0.228653237224	0.01870	T	0.444027	0.84784	T	-0.381525	0.03048	T	-0.322284	0.42324	T	0.130970427890295	0.15472	T	0.880912	0.66351	D	0.85855764	0.87977	0.8964487	0.94724	0.85855764	0.87978	0.8964487	0.94725	-11.884	0.84488	D	.	.	0.853	0.84963	P	.;.;.;.;.;.	.;.;.;.;.;.	1.864301	0.23680	16.11	0.95851265854640877	0.27992	0.07361	0.13381	N	AEFBI	0.219557	0.34443	N	-0.833271946106346	0.12465	0.6078047	-1.08622805862246	0.07971	0.3899093	0.00125429439532242	0.08381	0.487112	0.14033	0	0.55458	0.17659	0	0.023989	0.00149	3	0.564101	0.26826	0	.	.	5.41	-6.11	0.01950	-0.441000	0.06951	-2.593000	0.03570	-0.202000	0.08738	0.000000	0.06391	0.000000	0.08366	0.258000	0.23468	0.0:0.7253:0.0:0.2747	15.763	0.77871	929	0.16858	.;.;.;Carboxylesterase, type B;Carboxylesterase, type B;Carboxylesterase, type B	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.033300	0.050505	0.031250	0.067251	0.000000	0.051724	0.009202	0.003817	0.08333	764.83	37	chr16	55852892	.	C	G	764.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.565;DP=253;ExcessHet=0;FS=1.974;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.62;ReadPosRankSum=1.65;SOR=0.475	GT:AD:DP:GQ:PL	0/1:40,32:72:99:775,0,1003	5	0	1	0
chr16	57813723	57813723	T	0	exonic	LOC388282	.	.	.	.	519	727	164	25	87	301	0.128297	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	623.27	34	chr16	57813723	.	T	*	623.27	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-1.512;DP=283;ExcessHet=1.383;FS=3.618;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=3.73;ReadPosRankSum=1.13;SOR=0.453	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:39,28:67:99:0|1:57813722_ATG_A:1048,0,1553:57813722	4	0	2	0
chr16	68296494	68296494	A	G	exonic	SLC7A6	.	nonsynonymous SNV	SLC7A6:NM_003983:exon9:c.A1250G:p.K417R,SLC7A6:NM_001076785:exon10:c.A1250G:p.K417R	.	421	1086	14	1	0	16	0.00731261	.	.	.	726745	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.263	0.0472224451677	0.0012	0.000798722	0.0017	9.61e-05	0.0009	0	0.0003	0.0027	0	0.0011	0.0015977	247	154602	rs79087422	0.0017	0.0017	0.0016	0.0018	0.0054	0.0016	0.0016	0.0039	0.0034	0.0004	0.0012	0.0003	0	0.0009	0.0054	0.0019	0.0019	0.0012	0.0016	0.0016	0.0017	0.0014	0.0027	0.0014	0.0014	0.0024	0.0023	0.0003	0	0.0012	0.0006	0	0.0008	0.0204	0.0027	0.0019	0.0006	0.068	0.35726	T	0.056	0.46632	T	0.0	0.02946	B	0.0	0.01387	B	0.249427	0.15542	N	0.690248	1	0.08975	N	-0.37	0.03087	N	-2.55	0.89561	D	-0.75	0.21003	N	0.137	0.13484	-0.3791	0.72679	T	0.422	0.76677	T	10	0.009230226	0.00209	T	0.047222	0.62824	D	0.263	0.57612	.	.	0.790216378643	0.78827	0.6076084194231848	0.60692	0.367638273831	0.38325	0.33470916748	0.15644	T	0.240374	0.60869	T	-0.385667	0.02868	T	-0.329811	0.41489	T	0.0332240573910453	0.02508	T	0.184382	0.01906	T	0.15999849	0.35911	0.10670322	0.25676	0.15999849	0.35911	0.10670322	0.25675	-4.884	0.35555	T	.	.	0.078	0.06942	B	.;.	.;.	3.084215	0.41504	21.4	0.9536978989334971	0.26779	0.90514	0.51753	D	AEFDBCI	0.778922	0.71127	D	-0.392549536209376	0.25732	1.399149	-0.255442188865537	0.29583	1.658641	0.999999947205826	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.17	5.17	0.70848	7.323000	0.78378	9.341000	0.80216	0.756000	0.94297	0.999000	0.42656	1.000000	0.68203	0.662000	0.33024	1.0:0.0:0.0:0.0	13.239	0.59416	34	0.98095	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.003525	0.000000	0.004076	0.002924	0.000000	0.025862	0.000000	0.000000	0.08333	3143.83	34	chr16	68296494	.	A	G	3143.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.33;DP=429;ExcessHet=0;FS=1.015;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.1;ReadPosRankSum=-1.143;SOR=0.783	GT:AD:DP:GQ:PL	0/1:127,113:240:99:3154,0,3470	5	0	1	0
chr16	83994363	83994363	G	A	exonic	NECAB2	.	nonsynonymous SNV	NECAB2:NM_001329749:exon6:c.G409A:p.A137T,NECAB2:NM_001329748:exon7:c.G658A:p.A220T,NECAB2:NM_019065:exon7:c.G658A:p.A220T	.	7	1511	4	0	0	4	0.00132188	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	.	0.0003	0.00419329	0.0026	0.0010	0.0003	0.0005	0	3.005e-05	0	0.0177	0.0022121	342	154602	rs146128471	0.0013	0.0013	0.0008	0.0019	0.0192	0.0013	0.0013	0.0184	0.0181	0.0016	0.0003	0	5.038e-05	0	0.0010	0.0001	0.0015	0.0192	0.0009	0.0009	0.0005	0.0014	0.0195	0.0008	0.0008	0.0163	0.0151	0.0009	0	0.0004	0	0.0004	0	0	2.94e-05	0	0.0195	0.706	0.04671	T	0.582	0.08746	T	0.186	0.29254	B	0.014	0.16862	B	0.298607	0.14639	N	0.688531	1	0.08975	N	0.69	0.16971	N	2.28	0.22270	T	-0.25	0.11008	N	0.065	0.03726	-0.9882	0.33052	T	0.010	0.03765	T	10	0.0041571558	0.00082	T	.	.	.	0.004	0.00165	.	.	0.0138822411134	0.00435	0.16729902338853214	0.16649	.	.	0.22766110301	0.01799	T	0.007675	0.11099	T	-0.639039	0.00084	T	-0.675117	0.07284	T	0.00118534742772801	0.00012	T	0.252275	0.03843	T	0.023930144	0.01176	0.042053867	0.04922	0.023930144	0.01176	0.042053867	0.04921	-3.955	0.23128	T	.	.	0.067	0.02342	B	.;.;.	.;.;.	0.725774	0.10947	7.615	0.63479345580044644	0.07235	0.05443	0.11319	N	AEFDGBCIJ	0.043950	0.07012	N	-1.35367538960084	0.03087	0.1373539	-1.37439322946947	0.03527	0.164699	0.999999630838242	0.74766	0.706298	0.61202	0	0.59043	0.45803	0	0.709663	0.75317	0	0.562822	0.20929	0	.	.	4.58	-1.51	0.08207	0.491000	0.22128	0.734000	0.21109	-1.774000	0.00661	0.001000	0.13787	0.000000	0.08366	0.000000	0.00833	0.3689:0.2961:0.2496:0.0853	2.796	0.05069	952	0.10565	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001511	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.011364	0.08333	1811.83	37	chr16	83994363	.	G	A	1811.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.074;DP=321;ExcessHet=0;FS=1.358;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.23;ReadPosRankSum=0.283;SOR=0.569	GT:AD:DP:GQ:PL	0/1:62,75:137:99:1822,0,1481	5	0	1	0
chr16	84177770	84177770	G	A	exonic	DNAAF1	.	nonsynonymous SNV	DNAAF1:NM_001318756:exon8:c.G1399A:p.G467R,DNAAF1:NM_178452:exon12:c.G2107A:p.G703R	Ciliary dyskinesia, primary, 13, Autosomal recessive	0	1507	14	1	0	16	0.00528053	.	.	.	255933	Primary_ciliary_dyskinesia|not_specified|Primary_ciliary_dyskinesia_13	Human_Phenotype_Ontology:HP:0012265,MONDO:MONDO:0016575,MedGen:C0008780,OMIM:PS244400,Orphanet:244|MedGen:CN169374|MONDO:MONDO:0013174,MedGen:C2750790,OMIM:613193,Orphanet:244	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.010	.	0.0002	0.00938498	0.0042	9.623e-05	0.0003	0.0010	0	0.0002	0.0067	0.0291	0.0037516	580	154602	rs4150188	0.0018	0.0018	0.0011	0.0025	0.0272	0.0017	0.0017	0.0262	0.0259	0.0002	8.944e-05	0.0001	0.0003	1.875e-05	0.0040	0.0001	0.0020	0.0272	0.0011	0.0011	0.0006	0.0017	0.0311	0.0010	0.0009	0.0270	0.0255	0.0001	0	6.535e-05	0	0.0004	0	0.0034	0.0001	0	0.0311	0.003	0.91255	D	0.05	0.48080	T	0.039	0.21116	B	0.006	0.12133	B	0.301164	0.03956	N	3.781080	1	0.08975	N	0.55	0.14455	N	1.45	0.32482	T	-0.45	0.24460	N	0.153	0.15749	-1.0502	0.14341	T	0.053	0.22384	T	10	0.0025303066	0.00038	T	.	.	.	0.010	0.01040	0.114	0.02306	0.115124310173	0.11017	0.0751827147738109	0.07454	0.169743795167	0.19140	0.248479753733	0.03609	T	0.003804	0.03212	T	-0.600267	0.00145	T	-0.614747	0.11603	T	0.034540676135439	0.02730	T	0.549445	0.18903	T	0.07639843	0.17274	0.116798595	0.28197	0.09556236	0.22492	0.13285275	0.31870	-4.119	0.25569	T	.	.	0.143	0.43074	B	.;.	.;.	0.547376	0.09157	5.942	0.97103890916455893	0.32379	0.00361	0.01848	N	ALL	0.040905	0.06148	N	-1.70614915211622	0.00820	0.03545778	-1.85196348320609	0.00607	0.02695437	0.99999999999999	0.74766	0.421363	0.06395	0	0.379588	0.06130	0	0.536957	0.11973	0	0.322989	0.05693	1	.	.	2.81	-5.62	0.02284	-0.900000	0.04205	-4.635000	0.02058	-0.242000	0.07441	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2573:0.5814:0.1613:0.0	8.903	0.34667	730	0.54327	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.004028	0.000000	0.000000	0.011696	0.000000	0.000000	0.000000	0.011364	0.08333	2085.83	39	chr16	84177770	.	G	A	2085.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.24;DP=384;ExcessHet=0;FS=4.27;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.34;ReadPosRankSum=0.298;SOR=0.767	GT:AD:DP:GQ:PL	0/1:101,83:184:99:2096,0,2419	5	0	1	0
chr16	84195601	84195601	C	T	exonic	ADAD2	.	nonsynonymous SNV	ADAD2:NM_001145400:exon6:c.C956T:p.P319L,ADAD2:NM_139174:exon7:c.C1202T:p.P401L	.	429	1082	10	1	0	12	0.00551471	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.289	.	0.0002	0.00938498	0.0045	0	0.0004	0.0006	0	0.0001	0.0075	0.0364	0.0038421	594	154602	rs138702097	0.0019	0.0019	0.0011	0.0026	0.0278	0.0018	0.0018	0.0268	0.0265	0.0002	0.0014	0	0.0001	0	0.0040	0.0001	0.0020	0.0278	0.0016	0.0016	0.0010	0.0022	0.0310	0.0014	0.0014	0.0270	0.0254	9.659e-05	0	0.0051	0	0.0002	0	0.0034	0.0001	0	0.0310	0.079	0.33753	T	0.007	0.69154	D	0.611	0.39680	P	0.205	0.37080	B	0.071221	0.21488	N	0.506749	0.987869	0.40663	D	2.08	0.57402	M	-3.24	0.93474	D	-3.3	0.65858	D	0.382	0.42345	0.215	0.86167	D	0.683	0.89058	D	10	0.0048357546	0.00103	T	.	.	.	0.289	0.60808	.	.	0.873730468913	0.87250	0.36444147589905096	0.36358	.	.	0.474489361048	0.35298	T	0.340585	0.70959	T	-0.337413	0.05569	T	-0.236497	0.51139	T	0.0452165910714672	0.04641	T	0.748825	0.36981	T	0.12475506	0.29263	0.1409536	0.33583	0.12475506	0.29263	0.1409536	0.33582	-5.852	0.45842	T	.	.	0.088	0.11606	B	.;.	.;.	2.248522	0.28719	17.89	0.99543086491013555	0.70648	0.44137	0.27252	N	AEFDBI	0.114849	0.22607	N	-0.0916943527756573	0.37757	2.201245	-0.0587266269688578	0.37115	2.168842	0.999635300340022	0.41205	0.554377	0.28877	0	0.588066	0.40923	0	0.576033	0.28219	0	0.562822	0.20929	0	.	.	5.22	3.27	0.36580	-0.007000	0.12747	3.205000	0.36771	0.594000	0.32500	0.000000	0.06391	0.986000	0.30841	0.127000	0.19450	0.0:0.8265:0.0:0.1735	8.265	0.30971	754	0.51307	.;Adenosine deaminase/editase|Adenosine deaminase/editase|Adenosine deaminase/editase	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003021	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.015152	0.08333	1912.83	40	chr16	84195601	.	C	T	1912.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.851;DP=334;ExcessHet=0;FS=2.172;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.76;ReadPosRankSum=0.774;SOR=0.882	GT:AD:DP:GQ:PL	0/1:59,80:139:99:1923,0,1417	5	0	1	0
chr16	88533793	88533793	C	T	exonic	ZFPM1	.	nonsynonymous SNV	ZFPM1:NM_153813:exon10:c.C1835T:p.A612V	.	429	1090	3	0	0	3	0.00137426	.	.	.	2676420	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.016	0.0879970833188	9e-05	.	0.0001	0	0.0007	0	0	0.0001	0	0.0002	4.53e-05	7	154602	rs373172156	5.648e-05	6.43e-05	4.037e-05	7.329e-05	0.0014	4.511e-05	4.1e-05	0.0005	0.0003	0	0.0009	0	0	0	0.0014	3.267e-05	0.0002	0.0002	6.173e-05	5.96e-05	4.005e-05	8.463e-05	0.0002	3.199e-05	2.398e-05	2.019e-05	1.156e-05	0	0	6.782e-05	0.0003	0	0	0	6.083e-05	0.0010	0.0002	0.121	0.27783	T	0.26	0.23029	T	0.013	0.16609	B	0.002	0.06944	B	0.000534	0.00629	N	10.709100	1	0.08975	N	0	0.06538	N	3.09	0.08371	T	-1.14	0.29323	N	0.058	0.02964	-0.9860	0.33590	T	0.013	0.05033	T	10	0.02576688	0.00761	T	0.087997	0.75047	D	0.016	0.02506	.	.	0.206339911435	0.20273	0.23171379449755183	0.23086	0.217854078565	0.24320	0.864568352699	0.91783	D	0.18482	0.53759	T	-0.663281	0.00060	T	-0.766067	0.02900	T	0.0472703717707136	0.05014	T	0.446455	0.12522	T	0.0433859	0.06752	0.06693054	0.13778	0.0433859	0.06751	0.06693054	0.13778	-7.671	0.58806	D	.	.	0.084	0.09627	B	.	.	1.581648	0.20241	14.65	0.99160840727990385	0.54099	0.01600	0.05192	N	AEFDGBCIJ	0.079027	0.15956	N	-1.24040970005538	0.04427	0.199786	-1.28298487233095	0.04660	0.220333	0.999909275274477	0.45458	0.600919	0.35232	0	0.596877	0.49441	0	0.166054	0.03999	2	0.56751	0.32155	0	.	.	3.05	-0.768	0.10458	-0.264000	0.08683	-0.281000	0.10269	-0.497000	0.05030	0.000000	0.06391	0.000000	0.08366	0.270000	0.23768	0.1961:0.4002:0.0:0.4037	2.933	0.05451	969	0.06854	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	525.83	46	chr16	88533793	.	C	T	525.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.601;DP=208;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=18.13;ReadPosRankSum=0.318;SOR=0.569	GT:AD:DP:GQ:PL	0/1:5,24:29:46:536,0,46	5	0	1	0
chr17	3127542	3127542	T	C	exonic	OR1G1	.	nonsynonymous SNV	OR1G1:NM_003555:exon1:c.A10G:p.K4E	.	425	1095	1	0	1	2	0.000456413	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.074	0.00296091089631	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.218e-06	8.209e-06	1.226e-05	4.13e-06	2.997e-05	4.38e-06	3.46e-06	4.55e-06	3.32e-06	2.997e-05	0	0	0	0	0	8.999e-06	0	1.161e-05	6.574e-06	6.567e-06	0	1.346e-05	2.415e-05	0	0	.	.	2.415e-05	0	0	0	0	0	0	0	0	0	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	-0.735	0.01762	N	2.14	0.19450	T	0.09	0.05917	N	0.016	0.00203	-0.9688	0.37448	T	0.019	0.07846	T	9	0.06794566	0.09541	T	0.002961	0.06309	T	0.074	0.21613	0.292	0.25400	0.245660935333	0.24156	0.06960105285617728	0.06898	0.0506893168278	0.05566	0.32935577631	0.14837	T	0.002193	0.01594	T	-0.504169	0.00542	T	-0.86135	0.00829	T	0.0174360793438452	0.00480	T	0.0307969	0.00192	T	0.05087139	0.09258	0.050780825	0.08039	0.05087139	0.09257	0.050780825	0.08038	-4.059	0.24683	T	.	.	0.061	0.01075	B	.	.	0.338533	0.07123	3.699	0.19996591231886968	0.00700	0.00125	0.00780	N	AEFBI	0.014117	0.00213	N	-1.10780295871107	0.06504	0.2995574	-1.03811250484216	0.08956	0.4429938	6.64832039697195E-5	0.04366	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	3.98	2.96	0.33383	-0.086000	0.11198	-6.185000	0.01471	0.496000	0.22519	0.000000	0.06391	0.000000	0.08366	0.180000	0.21296	0.0:0.8617:0.0:0.1383	8.132	0.30191	721	0.55360	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	444.83	36	chr17	3127542	.	T	C	444.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.726;DP=212;ExcessHet=0;FS=10.824;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.36;ReadPosRankSum=0.797;SOR=0.078	GT:AD:DP:GQ:PL	0/1:16,20:36:99:455,0,426	5	0	1	0
chr17	4064778	4064778	C	A	exonic	ZZEF1	.	nonsynonymous SNV	ZZEF1:NM_015113:exon29:c.G4301T:p.G1434V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.118	0.0157621168443	.	.	8.545e-06	0	0	0	0	1.563e-05	0	0	6.5e-06	1	154602	rs751595594	6.855e-07	6.84e-07	1.364e-06	0	.	0	0	.	.	0	0	0	0	0	0	0	1.658e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.016	0.60972	D	0.018	0.17786	B	0.014	0.16862	B	0.000142	0.49130	D	0.180058	0.993615	0.41996	D	1.795	0.47270	L	1.89	0.23688	T	-2.9	0.60827	D	0.457	0.49420	-1.0753	0.08287	T	0.066	0.27052	T	10	0.11985704	0.22689	T	0.015762	0.36670	T	0.118	0.32913	0.187	0.09646	0.043077524339	0.03247	0.4065638754423153	0.40572	0.344575074866	0.36389	0.296602487564	0.09896	T	0.046177	0.27347	T	-0.095943	0.37096	T	-0.375592	0.36237	T	0.782978177070618	0.45237	D	0.780422	0.41514	T	0.289278	0.51925	0.2651142	0.52340	0.289278	0.51925	0.2651142	0.52339	-2.139	0.03755	T	.	.	0.116	0.23255	B	.	.	1.674723	0.21346	15.16	0.98007852485871993	0.37529	0.80791	0.40340	D	AEFDBI	0.209957	0.33589	N	-0.452870956550234	0.23642	1.271068	-0.426351353359556	0.24227	1.325523	0.993030585779494	0.33060	0.706548	0.73137	0	0.724815	0.89359	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	5.53	4.56	0.55644	3.375000	0.52140	0.676000	0.20636	0.549000	0.26987	0.387000	0.26063	0.011000	0.20116	0.876000	0.41813	0.0:0.9228:0.0:0.0772	12.540	0.55515	250	0.90192	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	390.83	34	chr17	4064778	.	C	A	390.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.335;DP=208;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.02;ReadPosRankSum=0.666;SOR=0.519	GT:AD:DP:GQ:PL	0/1:22,17:39:99:401,0,600	5	0	1	0
chr17	7823608	7823608	C	T	exonic	DNAH2	.	nonsynonymous SNV	DNAH2:NM_020877:exon74:c.C11309T:p.P3770L	.	.	.	.	.	.	.	.	.	.	.	3392559	Laterality_defects,_autosomal_dominant	MONDO:MONDO:0010991,MedGen:C1832813,OMIM:601086,Orphanet:450	no_assertion_criteria_provided	Uncertain_significance	.	.	.	.	.	.	.	.	0.346	0.0244094706221	.	.	8.256e-06	0	0	0.0001	0	0	0	0	6.5e-06	1	154602	rs764717426	8.209e-06	8.209e-06	6.807e-06	9.626e-06	2.519e-05	4.38e-06	3.46e-06	3.81e-06	2.76e-06	0	0	0	2.519e-05	0	0	8.094e-06	1.656e-05	1.159e-05	6.571e-06	6.567e-06	1.284e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.0	0.91255	D	0.001	0.83351	D	1.0	0.90584	D	0.994	0.82059	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.31	0.90591	M	2.49	0.14531	T	-9.44	0.98408	D	0.817	0.81261	-0.6510	0.62671	T	0.159	0.49245	T	10	0.8990331	0.89262	D	0.024409	0.47398	T	0.346	0.66769	0.746	0.87738	0.404453528171	0.40057	0.8293514478989574	0.82893	0.947446290278	0.72469	0.608575940132	0.54114	T	0.25439	0.62503	T	-0.00420881	0.51073	T	-0.0746939	0.65289	T	0.999903917312622	0.99629	D	0.813719	0.46699	T	0.86776394	0.88686	0.67754245	0.81061	0.86776394	0.88687	0.67754245	0.81062	-9.497	0.70840	D	.	.	0.776	0.84262	P	.;.;.	.;.;.	4.677122	0.74812	26.2	0.99912532767419737	0.98167	0.91677	0.54029	D	AEFDGBCI	0.695221	0.65397	D	0.887463798602489	0.91132	10.73119	0.789334686173814	0.89043	9.815412	0.99999988948215	0.74766	0.615755	0.39536	0	0.547309	0.14657	0	0.618376	0.41669	0	0.562822	0.20929	0	.	.	4.89	4.89	0.63387	6.777000	0.74822	5.889000	0.50737	0.580000	0.29708	1.000000	0.71638	1.000000	0.68203	0.831000	0.39176	0.0:1.0:0.0:0.0	16.979	0.86195	287	0.88635	Dynein heavy chain domain;Dynein heavy chain domain;Dynein heavy chain domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1274.83	38	chr17	7823608	.	C	T	1274.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.76;DP=285;ExcessHet=0;FS=0.789;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.28;ReadPosRankSum=-0.488;SOR=0.831	GT:AD:DP:GQ:PL	0/1:46,50:96:99:1285,0,968	5	0	1	0
chr17	8237397	8237397	G	T	exonic	CTC1	.	nonsynonymous SNV	CTC1:NM_025099:exon5:c.C770A:p.T257N	Cerebroretinal microangiopathy with calcifications and cysts, Autosomal recessive	0	1521	1	0	0	1	0.000328623	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.136	0.0186582822621	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1007776903	1.368e-06	1.368e-06	1.361e-06	1.375e-06	2.319e-05	2.3e-07	9e-08	3.85e-06	1.44e-06	0	0	0	0	0	0	0	0	2.319e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.147	0.24955	T	0.072	0.43344	T	0.0	0.02946	B	0.002	0.06944	B	0.231259	0.15916	N	0.665589	1	0.08975	N	1.355	0.33814	L	-1.64	0.82533	D	-0.45	0.14782	N	0.132	0.12770	-0.7470	0.58092	T	0.322	0.69125	T	10	0.0889543	0.15364	T	0.018658	0.40796	T	0.136	0.36778	0.205	0.12076	0.229264304666	0.22521	0.2063614302188771	0.20553	0.13658647459	0.15408	0.353998124599	0.18508	T	0.226222	0.59118	T	-0.235052	0.15987	T	-0.478559	0.24599	T	0.0237164910415293	0.01109	T	0.534247	0.17838	T	0.030558784	0.02739	0.036482234	0.03104	0.030558784	0.02739	0.036482234	0.03104	-4.167	0.26272	T	.	.	.	.	.	.	.	1.337755	0.17438	13.16	0.75298247451865719	0.11021	0.06299	0.12294	N	AEFDGBHCI	0.024342	0.01490	N	-1.08996778840493	0.06826	0.315381	-1.10388166928855	0.07626	0.3716722	0.998468187114833	0.37014	0.719381	0.83141	0	0.723133	0.82719	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.82	-1.08	0.09428	0.198000	0.17018	-0.590000	0.08327	-1.014000	0.01756	0.630000	0.27999	0.000000	0.08366	0.001000	0.02609	0.0:0.359:0.4615:0.1795	6.314	0.20386	459	0.78817	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	1137.83	34	chr17	8237397	.	G	T	1137.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.516;DP=274;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.37;ReadPosRankSum=1.4;SOR=0.737	GT:AD:DP:GQ:PL	0/1:43,49:92:99:1148,0,1048	5	0	1	0
chr17	16073554	16073554	C	T	exonic	NCOR1	.	nonsynonymous SNV	NCOR1:NM_001190440:exon27:c.G3734A:p.R1245Q,NCOR1:NM_006311:exon28:c.G3686A:p.R1229Q	.	442	1072	8	0	0	8	0.00371747	.	.	.	3202474	NCOR1-related_disorder	.	no_assertion_criteria_provided	Likely_benign	.	.	.	.	.	.	.	.	0.533	0.0974660508779	0.0006	0.000998403	0.0008	0.0003	0.0003	0	0.0002	0.0008	0	0.0022	0.0007568	117	154602	rs139458532	0.0011	0.0011	0.0010	0.0011	0.0031	0.0010	0.0010	0.0020	0.0017	0.0003	0.0003	0	5.093e-05	0.0002	0.0031	0.0011	0.0011	0.0018	0.0007	0.0007	0.0007	0.0007	0.0021	0.0006	0.0005	0.0011	0.0009	0.0002	0	0.0003	0	0	9.434e-05	0.0034	0.0012	0	0.0021	0.009	0.57480	D	0.336	0.49390	T	0.999	0.77913	D	0.978	0.78936	D	0.000000	0.84330	D	0.000000	0.999997	0.81001	D	1.7	0.43825	L	-1.63	0.82440	D	-0.99	0.27669	N	0.738	0.74371	0.276	0.87169	D	0.622	0.86693	D	10	0.08501911	0.14311	T	0.097466	0.76778	D	0.533	0.80367	.	.	0.827632526574	0.82599	0.3888524522618139	0.38800	1.03009341363	0.75405	0.747716069221	0.74109	T	0.557126	0.85109	D	-0.104618	0.35658	T	0.0696838	0.74888	D	0.048041525105693	0.05151	T	0.984502	0.94819	D	0.28056276	0.51103	0.20539178	0.44706	0.28056276	0.51102	0.20539178	0.44705	-3.482	0.18437	T	.	.	0.339	0.57927	B	.;.;.	.;.;.	5.095103	0.85098	28.5	0.99426257125797168	0.64032	0.98028	0.78995	D	AEFBI	0.688063	0.64919	D	0.72523267259875	0.81287	7.486819	0.764476381199915	0.87236	9.152527	0.99999465727442	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.727631	0.95156	0	.	.	5.91	5.91	0.95240	6.428000	0.73308	5.974000	0.52050	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:1.0:0.0:0.0	19.293	0.94099	237	0.90758	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.003788	0.08333	650.83	38	chr17	16073554	.	C	T	650.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.702;DP=233;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.5;ReadPosRankSum=-0.169;SOR=0.716	GT:AD:DP:GQ:PL	0/1:32,30:62:99:661,0,792	5	0	1	0
chr17	21416418	21416418	C	T	exonic	KCNJ12	.	nonsynonymous SNV	KCNJ12:NM_021012:exon3:c.C1076T:p.A359V	.	161	1359	2	0	0	2	0.000735294	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.794	0.268957265768	.	.	0.0002	0	0	0	0	5.995e-05	0	0.0010	.	.	.	rs782285426	8.919e-05	0.0013	5.863e-05	0.0001	0.0014	7.644e-05	7.188e-05	0.0012	0.0011	2.989e-05	0	0	0	0	0.0007	2.698e-06	6.643e-05	0.0014	0.0009	0.0014	0.0005	0.0013	0.0241	0.0007	0.0007	0.0205	0.0191	0.0004	0	6.53e-05	0	0	0	0	0	0.0005	0.0241	0.027	0.46513	D	0.06	0.45744	T	1.0	0.90584	D	0.995	0.83170	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.325	0.90780	M	-3.41	0.94306	D	-3.67	0.70191	D	0.81	0.80572	1.009	0.97336	D	0.921	0.97395	D	10	0.26578802	0.44078	T	0.268957	0.89803	D	0.794	0.93227	0.812	0.92788	0.858849601297	0.85748	0.6967236753524896	0.69613	0.221318415816	0.24671	0.802787721157	0.82388	T	0.478475	0.80828	T	0.309263	0.83690	D	0.206459	0.83478	D	0.92246401309967	0.58262	D	0.961204	0.85427	D	0.35010028	0.57075	0.34781364	0.60430	0.35010028	0.57075	0.34781364	0.60430	-10.019	0.74026	D	.	.	0.555	0.68780	A	.;.	.;.	4.336541	0.66495	25.0	0.99911685862359478	0.98095	0.97678	0.76352	D	AEFDGBI	0.945005	0.95279	D	0.84481498127133	0.88810	9.720894	0.746557245079037	0.85898	8.720346	1.0	0.98316	0.700653	0.57754	0	0.578056	0.33634	0	0.576033	0.28219	0	0.581314	0.35197	2	.	.	5.65	5.65	0.86881	7.763000	0.84121	7.731000	0.67736	0.588000	0.31329	1.000000	0.71638	1.000000	0.68203	0.592000	0.31189	0.0:1.0:0.0:0.0	19.713	0.96098	856	0.34373	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.08333	1059.83	318	chr17	21416418	.	C	T	1059.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.999;DP=1764;ExcessHet=0;FS=0.514;MLEAC=1;MLEAF=0.083;MQ=45.37;MQRankSum=-5.695;QD=3.97;ReadPosRankSum=0.49;SOR=0.626	GT:AD:DP:GQ:PL	0/1:199,68:267:99:1070,0,7204	5	0	1	0
chr17	27647035	27647035	G	T	exonic	LGALS9	.	nonsynonymous SNV	LGALS9:NM_001330163:exon8:c.G579T:p.M193I,LGALS9:NM_002308:exon8:c.G579T:p.M193I,LGALS9:NM_009587:exon9:c.G675T:p.M225I	.	434	1034	53	1	0	55	0.0259067	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025	.	0.0028	0.00858626	0.0070	0.0003	0.0029	0.0001	0.0024	0.0043	0.0077	0.0308	0.00641	991	154602	rs61736863	0.0047	0.0047	0.0036	0.0057	0.0307	0.0046	0.0045	0.0298	0.0294	0.0006	0.0030	0.0015	5.038e-05	0.0026	0.0243	0.0030	0.0052	0.0307	0.0037	0.0037	0.0032	0.0042	0.0338	0.0035	0.0034	0.0296	0.0280	0.0006	0	0.0033	0.0014	0	0.0028	0.0204	0.0041	0.0057	0.0338	1.0	0.03787	T	0.515	0.10643	T	0.0	0.02946	B	0.0	0.01387	B	0.705616	0.10057	N	0.874683	1	0.08975	N	0.805	0.20218	L	2.88	0.10291	T	-0.92	0.30555	N	0.087	0.10198	-0.9379	0.42947	T	0.014	0.05561	T	10	0.007870913	0.00179	T	.	.	.	0.025	0.05312	0.396	0.42262	0.117506650769	0.11410	0.21356275858387824	0.21272	0.428623133953	0.43178	0.377718806267	0.21933	T	0.057428	0.30565	T	-0.608484	0.00129	T	-0.623824	0.10888	T	0.00143451320405818	0.00014	T	0.717128	0.38135	T	0.24168785	0.47088	0.09407839	0.22253	0.24168785	0.47088	0.09407839	0.22252	-3.734	0.19821	T	.	.	0.213	0.49903	B	.;.;.;.;.	.;.;.;.;.	0.027789	0.04477	1.192	0.7052755038938161	0.09325	0.04884	0.10627	N	AEFDBI	0.042672	0.06650	N	-1.07995783123573	0.07013	0.324544	-1.1025804986439	0.07651	0.3729923	0.189229202955983	0.17978	0.67177	0.52595	0	0.702456	0.74545	0	0.602189	0.34648	0	0.683762	0.67416	0	.	.	4.31	-2.32	0.06360	-0.410000	0.07214	-2.454000	0.03734	0.612000	0.49041	0.191000	0.24200	0.000000	0.08366	0.026000	0.12556	0.5182:0.0:0.299:0.1828	3.724	0.07996	253	0.90069	Galectin, carbohydrate recognition domain;Galectin, carbohydrate recognition domain;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.016060	0.005208	0.008152	0.033058	0.062500	0.000000	0.031646	0.026718	0.1667	5454.06	33	chr17	27647035	.	G	T	5454.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-2.144;DP=626;ExcessHet=0.4139;FS=3.222;MLEAC=2;MLEAF=0.167;MQ=59.97;MQRankSum=0;QD=11.46;ReadPosRankSum=0.548;SOR=0.515	GT:AD:DP:GQ:PL	0/1:100,102:202:99:2483,0,2823	4	0	2	0
chr17	28524741	28524741	C	T	exonic	FOXN1	.	nonsynonymous SNV	FOXN1:NM_003593:exon2:c.C362T:p.A121V,FOXN1:NM_001369369:exon3:c.C362T:p.A121V	T-cell immunodeficiency, congenital alopecia, and nail dystrophy, Autosomal recessive	0	1521	1	0	0	1	0.000328623	.	.	.	727081	T-cell_immunodeficiency,_congenital_alopecia,_and_nail_dystrophy|FOXN1-related_disorder	MONDO:MONDO:0011132,MedGen:C1866426,OMIM:601705,Orphanet:169095|.	reviewed_by_expert_panel	Likely_benign	.	.	.	.	.	.	.	.	0.207	0.0240139439974	.	0.000599042	0.0005	0	9.289e-05	0	0	0	0.0013	0.0032	0.0003622	56	154602	rs557541901	0.0002	0.0002	0.0001	0.0003	0.0030	0.0002	0.0002	0.0027	0.0026	0	0	0	0	0	0.0007	7.197e-06	0.0002	0.0030	8.532e-05	8.529e-05	6.423e-05	0.0001	0.0027	4.952e-05	3.958e-05	0.0016	0.0013	0	0	0	0	0	0	0	0	0	0.0027	0.79	0.03201	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.892947	0.07307	N	1.051680	0.999996	0.08975	N	-0.895	0.01383	N	-2.93	0.91800	D	-0.31	0.12099	N	0.04	0.01421	-0.6425	0.63039	T	0.426	0.76930	T	10	0.0043040216	0.00087	T	0.024014	0.47001	T	0.207	0.49555	0.302	0.27003	0.220282294035	0.21616	0.07891657928715783	0.07826	0.142915156258	0.16124	0.293551087379	0.09442	T	0.19183	0.54680	T	-0.420646	0.01694	T	-0.380997	0.35606	T	0.0218604686198882	0.00893	T	0.149985	0.01257	T	0.033854887	0.03686	0.049713943	0.07653	0.03463723	0.03924	0.06498895	0.13105	-4.547	0.31498	T	0.09217786766913112	0.05928	0.059	0.01290	B	.;.	.;.	1.066292	0.14482	11.05	0.84350167853480496	0.15240	0.04033	0.09471	N	AEFGBCI	0.023063	0.01235	N	-1.12426662951459	0.06214	0.2854425	-1.02487346746542	0.09239	0.4585508	0.99996456375352	0.48965	0.428477	0.06694	0	0.547309	0.14657	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	5.49	-2.7	0.05651	0.050000	0.14004	0.581000	0.19707	-0.114000	0.14653	0.405000	0.26210	0.773000	0.26716	0.960000	0.51673	0.1314:0.4546:0.148:0.266	3.613	0.07611	152	0.94023	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.08333	1342.83	42	chr17	28524741	.	C	T	1342.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.328;DP=290;ExcessHet=0;FS=0.807;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=15.26;ReadPosRankSum=-0.076;SOR=0.601	GT:AD:DP:GQ:PL	0/1:37,51:88:99:1353,0,861	5	0	1	0
chr17	28683349	28683349	C	A	exonic	SUPT6H	.	nonsynonymous SNV	SUPT6H:NM_003170:exon16:c.C1960A:p.L654I,SUPT6H:NM_001320755:exon17:c.C1960A:p.L654I	.	427	1079	15	1	0	17	0.00781609	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.254	0.0168656344412	0.0004	0.000798722	0.0007	0.0002	0.0003	0	0	0.0006	0.0011	0.0027	0.0006986	108	154602	rs141330818	0.0005	0.0005	0.0004	0.0006	0.0057	0.0005	0.0005	0.0042	0.0037	8.961e-05	8.944e-05	0.0003	0	5.616e-05	0.0057	0.0003	0.0010	0.0029	0.0006	0.0007	0.0006	0.0007	0.0033	0.0005	0.0005	0.0021	0.0017	9.625e-05	0.0307	0.0003	0.0003	0	0	0	0.0006	0.0009	0.0033	0.218	0.19090	T	0.246	0.23984	T	0.988	0.62325	D	0.695	0.53983	P	0.000000	0.84330	D	0.000000	1	0.81001	D	2.455	0.71248	M	-0.17	0.65563	T	-1.42	0.34992	N	0.85	0.84609	-0.5180	0.67989	T	0.307	0.67795	T	10	0.024487287	0.00675	T	0.016866	0.38326	T	0.254	0.56428	.	.	0.518009022472	0.51444	0.5230107651206027	0.52224	1.61380097712	0.88956	0.765939176083	0.76815	T	0.353115	0.72045	T	-0.172335	0.24881	T	-0.0236881	0.68787	D	0.127058178186417	0.15108	T	0.90061	0.65471	D	0.2382516	0.46701	0.21226041	0.45688	0.2382516	0.46701	0.21226041	0.45687	-10.15	0.74805	D	.	.	0.291	0.52227	B	.;.	.;.	3.760351	0.53956	23.4	0.99350505468094485	0.60574	0.93490	0.58359	D	AEFBCI	0.602556	0.59437	D	0.519913176184342	0.68268	5.193882	0.528584493479893	0.69923	5.429898	0.934179830466613	0.27159	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.21	5.21	0.72005	2.791000	0.47520	5.996000	0.52409	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.981000	0.58702	0.0:1.0:0.0:0.0	18.934	0.92551	252	0.90114	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002014	0.000000	0.001359	0.000000	0.000000	0.017241	0.000000	0.003788	0.08333	1207.83	33	chr17	28683349	.	C	A	1207.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.256;DP=345;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.84;ReadPosRankSum=-0.09;SOR=0.62	GT:AD:DP:GQ:PL	0/1:51,51:102:99:1218,0,1341	5	0	1	0
chr17	37257713	37257713	C	T	exonic	ACACA	.	nonsynonymous SNV	ACACA:NM_198837:exon12:c.G1531A:p.E511K,ACACA:NM_198838:exon13:c.G1471A:p.E491K,ACACA:NM_198834:exon14:c.G1816A:p.E606K,ACACA:NM_198836:exon14:c.G1705A:p.E569K,ACACA:NM_198839:exon18:c.G1705A:p.E569K	Acetyl-CoA carboxylase deficiency, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.692	0.0171503242482	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.439	0.17696	T	0.746	0.44790	P	0.557	0.55725	P	0.000000	0.84330	D	0.000000	1	0.81001	D	1.885	0.50048	L	.	.	.	.	.	.	0.862	0.85872	0.107	0.84300	D	0.637	0.87289	D	10	0.7375028	0.74723	D	0.01715	0.38730	T	.	.	0.467	0.53891	0.877869702975	0.87668	0.9836152231955558	0.98353	.	.	0.872255206108	0.92889	D	0.780159	0.94189	D	0.432308	0.91648	D	0.383204	0.91545	D	0.977236747741699	0.71748	D	.	.	.	0.81459284	0.84857	0.6431959	0.79147	0.81459284	0.84859	0.6431959	0.79148	-9.549	0.74745	D	.	.	0.857	0.80134	P	.;.;.;.	.;.;.;.	5.294357	0.88888	29.8	0.9986442591158583	0.94276	0.98597	0.84519	D	AEFBI	0.820385	0.74119	D	0.627107990343815	0.74894	6.211086	0.69699622420893	0.82148	7.696462	0.999999997971713	0.74766	0.732398	0.92422	0	0.653731	0.59785	0	0.743671	0.96076	0	0.733575	0.97253	0	.	.	5.93	5.93	0.95888	7.905000	0.86479	7.642000	0.63248	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:1.0:0.0:0.0	19.342	0.94335	689	0.59000	.;.;Biotin carboxylase, C-terminal|Biotin carboxylation domain|Biotin carboxylase, C-terminal;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	3282.55	76	chr17	37257713	.	C	T	3282.55	.	AC=6;AF=0.5;AN=12;BaseQRankSum=0.842;DP=421;ExcessHet=11.5949;FS=462.603;MLEAC=6;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.11;ReadPosRankSum=0.71;SOR=10.961	GT:AD:DP:GQ:PL	0/1:22,37:59:99:406,0,251	0	0	6	0
chr17	42850295	42850295	G	A	exonic	AOC2	.	nonsynonymous SNV	AOC2:NM_001158:exon4:c.G2137A:p.D713N,AOC2:NM_009590:exon4:c.G2218A:p.D740N	.	427	1091	4	0	0	4	0.00182983	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.019	0.0055010911542	0.0020	0.00119808	0.0019	0.0020	0.0003	0	0.0067	0.0022	0.0099	0.0004	0.0016106	249	154602	rs114818002	0.0012	0.0012	0.0012	0.0012	0.0022	0.0011	0.0011	0.0018	0.0017	0.0022	0.0003	0.0016	5.041e-05	0.0069	0.0005	0.0010	0.0013	0.0004	0.0024	0.0024	0.0024	0.0024	0.0030	0.0022	0.0021	0.0027	0.0025	0.0022	0	0.0001	0.0012	0	0.0054	0.0102	0.0030	0.0014	0.0002	0.076	0.34982	T	0.102	0.38450	T	0.054	0.25173	B	0.03	0.27321	B	0.119509	0.19071	N	0.532850	1	0.08975	N	0.895	0.22405	L	3.84	0.03675	T	-0.91	0.24460	N	0.079	0.07811	-0.9291	0.44270	T	0.005	0.01688	T	10	0.0035673082	0.00064	T	0.005501	0.14166	T	0.019	0.03383	.	.	0.255777322467	0.25185	0.6343885094708774	0.63372	0.0253377058962	0.02582	0.246080964804	0.03366	T	0.118207	0.43885	T	-0.728508	0.00024	T	-0.814662	0.01563	T	0.00067986825435023	0.00006	T	0.149885	0.01253	T	0.041661363	0.06175	0.038420457	0.03707	0.041661363	0.06174	0.038420457	0.03706	-3.859	0.25848	T	.	.	0.064	0.01909	B	.;.	.;.	1.310177	0.17132	12.98	0.96226656148049883	0.29103	0.03764	0.09076	N	AEFDBI	0.085765	0.17387	N	-1.10786280800513	0.06503	0.2995071	-1.08402154411783	0.08014	0.3922569	0.965442818827192	0.28831	0.626454	0.40138	0	0.588015	0.36545	0	0.80507	0.99327	0	0.616125	0.45549	0	.	.	5.19	0.224	0.14572	-0.113000	0.10745	-0.627000	0.08144	-0.179000	0.10443	0.000000	0.06391	0.000000	0.08366	0.022000	0.11911	0.2246:0.4101:0.3653:0.0	10.896	0.46234	260	0.89800	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	2035.83	36	chr17	42850295	.	G	A	2035.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.941;DP=350;ExcessHet=0;FS=2.696;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.5;ReadPosRankSum=-2.34;SOR=0.489	GT:AD:DP:GQ:PL	0/1:91,86:177:99:2046,0,2196	5	0	1	0
chr17	43209576	43209576	C	T	exonic	NBR1	.	nonsynonymous SNV	NBR1:NM_001291571:exon21:c.C2747T:p.S916L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.099	0.00247799293091	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.892e-06	2.736e-06	0	5.862e-06	5.049e-05	6.8e-07	4.6e-07	1.678e-05	9.94e-06	0	0	0	0	0	0	0	0	5.049e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.02946	B	0.001	0.04355	B	.	.	.	.	1	0.08975	N	.	.	.	0.89	0.45636	T	.	.	.	0.231	0.25989	-1.0011	0.29602	T	0.077	0.30828	T	7	0.083803385	0.13980	T	0.002478	0.04925	T	.	.	0.34	0.33141	0.177238962908	0.17366	.	.	.	.	.	.	.	.	.	.	-0.208605	0.19577	T	-0.537423	0.18551	T	0.0225476848085301	0.00970	T	0.474053	0.14146	T	.	.	.	.	.	.	.	.	-2.953	0.09684	T	.	.	0.104	0.18705	B	.	.	0.197311	0.05827	2.267	0.68196843098406135	0.08585	0.03259	0.08291	N	AEFBI	0.040444	0.06017	N	-0.901074322236357	0.10816	0.5188141	-0.995857017767948	0.09878	0.4940473	4.44860287574638E-4	0.07004	0.475973	0.10046	0	0.601575	0.49859	0	0.463624	0.06942	0	0.221012	0.04332	2	.	.	3.12	0.668	0.17081	-0.683000	0.05280	-0.427000	0.09246	0.530000	0.24713	0.000000	0.06391	0.000000	0.08366	0.146000	0.20164	0.0:0.7932:0.0:0.2068	6.907	0.23497	505	0.75648	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.25	465.72	53	chr17	43209576	.	C	T	465.72	.	AC=2;AF=0.25;AN=8;BaseQRankSum=-1.884;DP=198;ExcessHet=0.6695;FS=147.175;MLEAC=2;MLEAF=0.25;MQ=60;MQRankSum=0;QD=4.75;ReadPosRankSum=0.531;SOR=7.111	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:31,14:45:99:0|1:43209576_C_T:182,0,773:43209576	2	0	2	2
chr17	44805444	44805444	C	T	exonic	GJC1	.	nonsynonymous SNV	GJC1:NM_001080383:exon3:c.G374A:p.R125Q,GJC1:NM_005497:exon3:c.G374A:p.R125Q	.	431	1090	0	1	0	2	0.00091659	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.424	0.0909535775148	.	.	8.239e-06	0	0	0	0	1.499e-05	0	0	6.5e-06	1	154602	rs778423212	1.026e-05	1.026e-05	1.225e-05	8.25e-06	0.0002	6.16e-06	4.89e-06	1.779e-05	8.93e-06	0	6.708e-05	0	0	0	0.0002	8.094e-06	0	2.319e-05	6.573e-06	6.567e-06	0	1.345e-05	2.415e-05	0	0	.	.	2.415e-05	0	0	0	0	0	0	0	0	0	0.114	0.28646	T	0.099	0.38891	T	0.708	0.42036	P	0.124	0.32546	B	0.086802	0.20567	N	0.493202	0.994224	0.42205	D	1.98	0.53716	M	-4.68	0.97989	D	-2.07	0.47344	N	0.366	0.42345	0.392	0.88979	D	0.788	0.92822	D	10	0.32195783	0.49551	T	0.090954	0.75616	D	0.424	0.73226	0.411	0.44723	0.734530527931	0.73216	0.6167419203206294	0.61606	0.688196584197	0.60423	0.663557529449	0.61918	T	0.637217	0.88830	D	-0.0264551	0.47930	T	-0.0788059	0.64992	T	0.441454857587814	0.30483	T	0.856914	0.54589	D	0.08463027	0.19596	0.08923691	0.20857	0.08463027	0.19596	0.08923691	0.20856	-3.218	0.12701	T	.	.	0.230	0.46226	B	.;.;.;.	.;.;.;.	4.416924	0.68379	25.2	0.99676619908655428	0.78977	0.97691	0.76444	D	AEFBI	0.686974	0.64847	D	0.035549766339188	0.43478	2.639968	0.105224342541616	0.44815	2.756037	0.996988728224053	0.35173	0.706548	0.73137	0	0.633656	0.55848	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.09	3.09	0.34677	6.171000	0.71829	7.669000	0.64672	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.975000	0.56047	0.0:0.7607:0.0:0.2393	8.488	0.32242	407	0.82314	Connexin, N-terminal;Connexin, N-terminal;Connexin, N-terminal;Connexin, N-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1748.83	34	chr17	44805444	.	C	T	1748.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.93;DP=306;ExcessHet=0;FS=1.412;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.77;ReadPosRankSum=1.35;SOR=0.847	GT:AD:DP:GQ:PL	0/1:62,65:127:99:1759,0,1509	5	0	1	0
chr17	45121086	45121086	C	A	exonic	PLCD3	.	stopgain	PLCD3:NM_133373:exon3:c.G370T:p.E124X	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs766996087	0	1.163e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000001	0.62929	D	0.055354	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.214	0.23884	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.619807	0.98345	D	0.652534	0.98317	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.	.;.;.	9.277472	0.98712	40	0.99730795366767966	0.82761	0.99462	0.96329	D	AEFBI	0.378492	0.46187	N	0.970431179673013	0.94761	13.01758	0.809170662752954	0.90423	10.40089	0.999999999302589	0.74766	0.646311	0.45356	0	0.588066	0.40923	0	0.645312	0.48771	0	0.699875	0.68795	0	.	.	4.51	4.51	0.54589	7.793000	0.84418	4.814000	0.45064	0.507000	0.23093	1.000000	0.71638	0.999000	0.35428	0.997000	0.79791	0.0:1.0:0.0:0.0	16.000	0.80080	653	0.62661	Pleckstrin homology domain;Pleckstrin homology domain;Pleckstrin homology domain|Pleckstrin homology domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1222.83	34	chr17	45121086	.	C	A	1222.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.846;DP=264;ExcessHet=0;FS=5.3;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.44;ReadPosRankSum=-0.752;SOR=0.342	GT:AD:DP:GQ:PL	0/1:40,51:91:99:1233,0,1038	5	0	1	0
chr17	46872579	46872579	A	G	exonic	WNT9B	.	nonsynonymous SNV	WNT9B:NM_001320458:exon2:c.A140G:p.Q47R,WNT9B:NM_003396:exon2:c.A140G:p.Q47R	.	420	1079	20	3	0	26	0.0119048	.	.	.	1630578	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.128	.	0.0044	0.00339457	0.0075	0.0009	0.0017	0	0.0259	0.0068	0.0136	0.0167	0.0064035	990	154602	rs118185468	0.0065	0.0065	0.0063	0.0067	0.0128	0.0064	0.0063	0.0122	0.0119	0.0005	0.0018	0.0017	2.538e-05	0.0230	0.0079	0.0059	0.0059	0.0128	0.0054	0.0054	0.0048	0.0061	0.0128	0.0051	0.0050	0.0103	0.0093	0.0010	0	0.0011	0.0035	0	0.0231	0	0.0065	0.0038	0.0128	0.134	0.29688	T	0.476	0.30143	T	0.072	0.23997	B	0.023	0.19966	B	0.082512	0.20804	N	0.507715	0.858057	0.28398	N	1.895	0.50365	L	-1.39	0.80387	T	-0.69	0.19720	N	0.141	0.14763	-0.7710	0.56803	T	0.247	0.61635	T	10	0.005423963	0.00119	T	.	.	.	0.128	0.35103	.	.	0.900307032389	0.89931	0.5040463843694573	0.50326	0.299722776496	0.32340	0.550557017326	0.45935	T	0.268256	0.64036	T	-0.399512	0.02332	T	-0.334971	0.40912	T	0.00942075269797112	0.00121	T	.	.	.	0.06629579	0.14250	0.096777566	0.23008	0.06629579	0.14250	0.096777566	0.23008	-3.213	0.12640	T	.	.	0.065	0.01909	B	.;.;.	.;.;.	1.602473	0.20483	14.77	0.91943365196778426	0.21270	0.78732	0.38889	D	AEFDBI	0.143800	0.26660	N	-0.470793134273499	0.23042	1.234558	-0.423063799552568	0.24321	1.331227	0.581956077750406	0.21578	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	4.48	4.48	0.53973	1.500000	0.35290	5.610000	0.49052	0.751000	0.87719	0.054000	0.21560	1.000000	0.68203	0.025000	0.12405	0.8506:0.1494:0.0:0.0	11.516	0.49771	444	0.79803	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.004040	0.000000	0.002717	0.000000	0.000000	0.000000	0.003067	0.026718	0.1667	953.06	33	chr17	46872579	.	A	G	953.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-0.042;DP=224;ExcessHet=0.4139;FS=1.672;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=10.03;ReadPosRankSum=-0.248;SOR=0.941	GT:AD:DP:GQ:PL	0/1:29,25:54:99:532,0,654	4	0	2	0
chr17	50516574	50516574	G	T	exonic	MYCBPAP	.	nonsynonymous SNV	MYCBPAP:NM_001366294:exon2:c.G81T:p.K27N,MYCBPAP:NM_032133:exon2:c.G81T:p.K27N	.	434	1084	4	0	0	4	0.00184162	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.130	0.0234571458418	.	.	1.66e-05	0	0	0	0	1.511e-05	0	6.084e-05	1.29e-05	2	154602	rs776097777	1.505e-05	1.505e-05	1.498e-05	1.513e-05	0.0009	9.86e-06	8.42e-06	0.0003	0.0002	0	0	0	0	0	0.0009	9.893e-06	3.313e-05	4.644e-05	1.971e-05	1.97e-05	1.285e-05	2.689e-05	0.0002	5.24e-06	2.45e-06	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.94e-05	0	0.0002	0.008	0.65419	D	0.035	0.63918	D	.	.	.	.	.	.	0.062530	0.22091	N	0.502042	0.657591	0.33022	D	.	.	.	1.34	0.35405	T	-1.79	0.44657	N	0.165	0.19995	-0.5806	0.65593	T	0.171	0.51261	T	10	0.19212589	0.34927	T	0.023457	0.46421	T	0.130	0.35528	0.162	0.06618	0.607840211571	0.60469	.	.	0.676429234034	0.59765	0.527547240257	0.42689	T	0.111189	0.42649	T	-0.323537	0.06612	T	-0.520987	0.20195	T	0.743231594562531	0.42912	D	0.727427	0.34191	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.414	0.60351	A	.;.;.	.;.;.	4.573448	0.72174	25.8	0.9955122251556171	0.71148	0.94364	0.60930	D	AEFBI	0.750898	0.69187	D	0.61085542719322	0.73858	6.035666	0.579695901923337	0.73484	5.978276	0.981774866263096	0.30309	0.553676	0.25195	0	0.588015	0.36545	0	0.602189	0.34648	0	0.567892	0.33627	0	.	.	5.4	5.4	0.77957	4.786000	0.62117	6.605000	0.56069	0.671000	0.69459	1.000000	0.71638	1.000000	0.68203	0.898000	0.43474	0.0779:0.0:0.9221:0.0	12.523	0.55417	928	0.17405	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	722.83	40	chr17	50516574	.	G	T	722.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.714;DP=223;ExcessHet=0;FS=3.129;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=16.43;ReadPosRankSum=-0.83;SOR=0.283	GT:AD:DP:GQ:PL	0/1:16,28:44:99:733,0,440	5	0	1	0
chr17	51161793	51161793	C	G	exonic	NME1	.	nonsynonymous SNV	NME1:NM_000269:exon5:c.C407G:p.P136R,NME1:NM_198175:exon6:c.C482G:p.P161R	Neuroblastoma, Autosomal dominant, Isolated cases	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.290	0.0247487272517	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.841e-07	6.84e-07	1.361e-06	0	8.994e-07	0	0	.	.	0	0	0	0	0	0	8.994e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.033	0.44358	D	0.031	0.53788	D	0.085	0.24868	B	0.103	0.30945	B	.	.	.	.	0.806169	0.34577	D	2.735	0.79925	M	-1.05	0.76690	T	-4.85	0.82638	D	0.255	0.42639	-0.3746	0.72820	T	0.489	0.80550	T	9	0.1975165	0.35686	T	0.024749	0.47736	T	0.290	0.60924	0.409	0.44395	0.917875564924	0.91704	0.7052591553073305	0.70467	0.449017913786	0.44711	.	.	.	0.359327	0.72575	T	0.0484719	0.58147	T	-0.16815	0.57613	T	0.81770920753479	0.47603	D	0.844016	0.52235	T	0.44900948	0.63978	0.42976063	0.66648	0.44900948	0.63979	0.42976063	0.66648	-9.051	0.68025	D	.	.	0.073	0.08560	B	.;.;.	.;.;.	3.436207	0.47779	22.5	0.98231699406706696	0.39396	0.43043	0.27011	N	AEFDBHCI	0.694703	0.65362	D	-0.00148107297099333	0.41788	2.505864	0.0688717972393935	0.42994	2.610407	0.263400505350585	0.18815	0.719381	0.83141	0	0.723133	0.82719	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.81	5.81	0.92413	1.174000	0.31541	2.671000	0.33948	0.599000	0.40250	0.002000	0.15269	0.969000	0.29651	0.991000	0.66497	0.1409:0.8591:0.0:0.0	15.189	0.72711	874	0.30607	Nucleoside diphosphate kinase-like domain|Nucleoside diphosphate kinase-like domain;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	730.83	35	chr17	51161793	.	C	G	730.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.157;DP=253;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.07;ReadPosRankSum=1.75;SOR=0.619	GT:AD:DP:GQ:PL	0/1:35,31:66:99:741,0,912	5	0	1	0
chr17	53824754	53824754	T	C	exonic	KIF2B	.	nonsynonymous SNV	KIF2B:NM_032559:exon1:c.T1721C:p.M574T	.	429	1089	4	0	0	4	0.00183318	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.071	0.00425060180804	.	0.000399361	0.0005	9.709e-05	0	0	0	0	0	0.0036	0.000401	62	154602	rs573802436	0.0002	0.0002	0.0001	0.0003	0.0037	0.0002	0.0002	0.0033	0.0032	0	2.236e-05	0	0	0	0	2.698e-06	0.0002	0.0037	8.538e-05	8.531e-05	6.428e-05	0.0001	0.0025	4.955e-05	3.961e-05	0.0014	0.0011	2.407e-05	0	0	0	0	0	0	0	0	0.0025	0.612	0.05436	T	0.59	0.08217	T	0.0	0.02946	B	0.002	0.06944	B	0.844780	0.07021	N	1.098620	1	0.08975	N	0.46	0.12951	N	-0.7	0.72785	T	-0.57	0.17210	N	0.038	0.01203	-1.0033	0.28963	T	0.108	0.39099	T	10	0.0048318207	0.00103	T	0.004251	0.10278	T	0.071	0.20720	0.392	0.41606	0.209622950755	0.20551	0.16669700884593416	0.16589	0.112616815812	0.12714	0.281063586473	0.07641	T	0.006055	0.05488	T	-0.494299	0.00615	T	-0.484908	0.23926	T	0.0281798973618682	0.01715	T	0.260774	0.04184	T	0.054527488	0.10474	0.063646875	0.12640	0.054527488	0.10473	0.063646875	0.12640	-2.148	0.03796	T	.	.	0.098	0.16231	B	.	.	0.323355	0.06979	3.530	0.21730297863769654	0.00841	0.15202	0.18794	N	AEFBI	0.056581	0.10471	N	-1.15065923857356	0.05768	0.2638606	-1.10622172686358	0.07581	0.3692998	2.18322008141125E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.98	1.16	0.19936	0.545000	0.22976	-0.199000	0.10963	0.665000	0.62972	0.001000	0.13787	0.000000	0.08366	0.148000	0.20235	0.1925:0.1091:0.1839:0.5145	1.064	0.01507	887	0.27948	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001511	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.007576	0.08333	1375.83	65	chr17	53824754	.	T	C	1375.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.431;DP=423;ExcessHet=0;FS=2.501;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.74;ReadPosRankSum=-0.514;SOR=0.999	GT:AD:DP:GQ:PL	0/1:51,57:108:99:1386,0,1205	5	0	1	0
chr17	56442850	56442850	A	T	exonic	ANKFN1	.	nonsynonymous SNV	ANKFN1:NM_153228:exon9:c.A1025T:p.Q342L,ANKFN1:NM_001365758:exon10:c.A812T:p.Q271L,ANKFN1:NM_001370326:exon10:c.A1016T:p.Q339L	.	432	1088	2	0	0	2	0.000918274	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.155	0.0145775853124	0.0005	0.00179712	0.0015	0.0002	0.0003	0	0	0.0005	0	0.0086	0.0013001	201	154602	rs138097635	0.0009	0.0009	0.0007	0.0012	0.0088	0.0009	0.0009	0.0083	0.0081	2.99e-05	0.0002	0	0	1.872e-05	0.0019	0.0005	0.0010	0.0088	0.0005	0.0005	0.0004	0.0007	0.0091	0.0004	0.0004	0.0070	0.0062	7.214e-05	0	0.0002	0	0	0	0	0.0004	0.0009	0.0091	0.085	0.32769	T	0.749	0.04947	T	0.0	0.02946	B	0.002	0.06944	B	0.614292	0.10837	N	0.843651	0.974027	0.39071	D	0.49	0.13296	N	0.4	0.57261	T	-2.7	0.57599	D	0.481	0.54322	-0.9330	0.43695	T	0.112	0.40075	T	10	0.011397332	0.00249	T	0.014578	0.34790	T	0.155	0.40530	.	.	0.752388196393	0.75015	0.3353151183126032	0.33444	0.133193001457	0.15002	0.335406512022	0.15749	T	0.070273	0.33919	T	-0.440084	0.01292	T	-0.399095	0.33490	T	0.0114340405796002	0.00171	T	0.729627	0.35069	T	0.14905336	0.34000	0.1154978	0.27881	0.14905336	0.34000	0.1154978	0.27881	-4.794	0.34521	T	.	.	0.087	0.19720	B	.;.;.	.;.;.	1.388433	0.18007	13.50	0.97596094857714044	0.34820	0.28391	0.23541	N	AEFBHI	0.111405	0.22057	N	-0.431141043181645	0.24384	1.316241	-0.331122646317336	0.27098	1.501368	2.60303297487455E-4	0.06190	0.553676	0.25195	0	0.563428	0.19063	0	0.547309	0.15389	0	0.620846	0.47308	0	.	.	5.51	3.16	0.35406	0.229000	0.17614	3.396000	0.38099	-0.092000	0.16129	0.490000	0.26879	1.000000	0.68203	0.936000	0.47498	0.4646:0.0:0.2092:0.3262	2.573	0.04507	188	0.92666	Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III;Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III;Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	954.83	38	chr17	56442850	.	A	T	954.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.426;DP=275;ExcessHet=0;FS=0.798;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.73;ReadPosRankSum=0.35;SOR=0.843	GT:AD:DP:GQ:PL	0/1:48,41:89:99:965,0,1148	5	0	1	0
chr17	56457268	56457268	T	C	exonic	ANKFN1	.	nonsynonymous SNV	ANKFN1:NM_153228:exon12:c.T1328C:p.I443T,ANKFN1:NM_001365758:exon13:c.T1115C:p.I372T,ANKFN1:NM_001370326:exon13:c.T1319C:p.I440T	.	508	1007	6	1	0	8	0.00395648	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.155	.	0.0005	0.00199681	0.0014	0	0.0004	0	0	0.0006	0.0035	0.0088	0.0011643	180	154602	rs147516817	0.0008	0.0008	0.0006	0.0010	0.0066	0.0007	0.0007	0.0061	0.0059	0	0.0001	0.0005	2.53e-05	0	0.0043	0.0004	0.0010	0.0066	0.0004	0.0004	0.0002	0.0006	0.0060	0.0003	0.0003	0.0043	0.0037	2.405e-05	0	0.0002	0.0006	0	0	0	0.0004	0	0.0060	0.003	0.68238	D	0.005	0.74150	D	0.309	0.32767	B	0.073	0.28123	B	0.000021	0.62929	D	0.155814	0.999603	0.47795	D	1.39	0.34934	L	1.35	0.34648	T	-2.98	0.62008	D	0.773	0.85132	-1.0759	0.08164	T	0.086	0.33550	T	10	0.010184765	0.00228	T	.	.	.	0.155	0.40530	.	.	0.772936170056	0.77084	0.48792229324740355	0.48712	0.182118499786	0.20472	0.706031322479	0.68017	T	0.078528	0.41666	T	-0.354663	0.04442	T	-0.27822	0.46986	T	0.0907780790626299	0.11311	T	0.964804	0.86967	D	0.34816617	0.56924	0.429917	0.66658	0.34816617	0.56924	0.429917	0.66658	-9.023	0.67845	D	.	.	0.344	0.56895	A	.;.	.;.	3.750474	0.53753	23.4	0.99210097136932018	0.55563	0.99011	0.89930	D	AEFI	0.893892	0.83230	D	0.270854384079616	0.54676	3.63277	0.441030590198428	0.64141	4.66282	0.999957846323922	0.48110	0.553676	0.25195	0	0.573888	0.26702	0	0.547309	0.15389	0	0.620846	0.47308	0	.	.	6.07	6.07	0.98675	8.017000	0.88732	7.895000	0.73253	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:0.0:1.0	16.641	0.84955	128	0.94857	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.008621	0.003049	0.000000	0.08333	1149.83	37	chr17	56457268	.	T	C	1149.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.355;DP=259;ExcessHet=0;FS=0.909;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=15.13;ReadPosRankSum=-1.332;SOR=0.853	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:32,44:76:99:0|1:56457268_T_C:1160,0,757:56457268	5	0	1	0
chr17	56466464	56466464	T	G	exonic	ANKFN1	.	nonsynonymous SNV	ANKFN1:NM_153228:exon14:c.T1675G:p.F559V,ANKFN1:NM_001365758:exon15:c.T1462G:p.F488V,ANKFN1:NM_001370326:exon15:c.T1666G:p.F556V	.	434	1086	2	0	0	2	0.000919963	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.104	0.00780813184887	0.0005	0.00179712	0.0014	0.0002	0.0003	0	0	0.0004	0	0.0083	0.0012031	186	154602	rs145526038	0.0009	0.0009	0.0006	0.0012	0.0087	0.0008	0.0008	0.0082	0.0080	2.987e-05	0.0002	0	0	1.872e-05	0.0017	0.0004	0.0010	0.0087	0.0005	0.0005	0.0004	0.0007	0.0091	0.0004	0.0004	0.0070	0.0062	7.217e-05	0	0.0002	0	0	0	0	0.0004	0.0009	0.0091	1.0	0.00964	T	0.294	0.20745	T	0.013	0.16609	B	0.008	0.13708	B	0.000002	0.62929	D	0.102768	0.999795	0.49177	D	1.32	0.33002	L	2.13	0.26885	T	0.28	0.04233	N	0.405	0.54757	-1.0597	0.11830	T	0.050	0.21261	T	10	0.0090583265	0.00205	T	0.007808	0.20720	T	0.104	0.29647	.	.	0.697657426632	0.69504	0.3863588621963704	0.38550	0.187923718874	0.21122	0.629788041115	0.57115	T	9.9E-4	0.04761	T	-0.486638	0.00678	T	-0.466249	0.25921	T	0.0276417951501543	0.01636	T	0.814619	0.46840	T	0.26043668	0.49100	0.23420899	0.48632	0.26043668	0.49100	0.23420899	0.48631	-10.778	0.78426	D	.	.	0.192	0.41125	B	.;.	.;.	4.066932	0.60390	24.2	0.28089865596662322	0.01426	0.92352	0.55513	D	AEFBI	0.443794	0.50095	N	-0.10873140571671	0.37013	2.147316	0.0883795158569147	0.43961	2.687288	7.23165679038613E-4	0.07704	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.69	5.69	0.88346	4.741000	0.61790	7.911000	0.74030	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:0.0:1.0	15.954	0.79654	114	0.95383	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.008621	0.000000	0.000000	0.08333	601.83	34	chr17	56466464	.	T	G	601.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.415;DP=226;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.36;ReadPosRankSum=0.81;SOR=0.631	GT:AD:DP:GQ:PL	0/1:27,26:53:99:612,0,617	5	0	1	0
chr17	58194081	58194081	C	T	exonic	EPX	.	nonsynonymous SNV	EPX:NM_000502:exon5:c.C583T:p.L195F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.166	0.0344463062991	.	.	5.121e-05	0	0	0	0	0	0	0.0004	3.88e-05	6	154602	rs748539431	3.491e-05	3.489e-05	2.451e-05	4.54e-05	0.0005	2.698e-05	2.439e-05	0.0004	0.0003	0.0001	0	0	0	0	0.0002	8.993e-07	1.656e-05	0.0005	1.97e-05	1.968e-05	1.285e-05	2.686e-05	0.0002	5.24e-06	2.45e-06	7.97e-06	2.98e-06	4.811e-05	0	0	0	0	0	0	0	0	0.0002	0.088	0.32296	T	0.215	0.26306	T	0.459	0.36338	P	0.206	0.37138	B	0.259206	0.15349	N	0.648418	0.936018	0.26928	N	1.2	0.30300	L	-0.45	0.69896	T	-1.67	0.39887	N	0.248	0.28028	-0.7773	0.56453	T	0.208	0.56730	T	10	0.13738492	0.26134	T	0.034446	0.55682	D	0.166	0.42578	0.518	0.61915	0.693749728912	0.69111	0.5778485667093559	0.57713	0.218286694533	0.24365	0.287608653307	0.08575	T	0.30312	0.67549	T	-0.37459	0.03368	T	-0.453883	0.27268	T	0.0331017412245274	0.02488	T	0.516848	0.16688	T	0.1456051	0.33369	0.14158	0.33711	0.1456051	0.33368	0.14158	0.33710	-6.551	0.50678	T	0.18341385258524592	0.23742	0.087	0.11124	B	.	.	1.330388	0.17353	13.11	0.99468514105000461	0.66207	0.36459	0.25538	N	AEFDBHCI	0.235761	0.35831	N	-0.308683225522208	0.28818	1.592693	-0.319290344272944	0.27476	1.524877	0.0947544236299747	0.16212	0.520426	0.21595	0	0.615948	0.52940	0	0.440839	0.06518	1	0.584449	0.35598	0	.	.	3.97	2.9	0.32809	-0.099000	0.10976	-0.123000	0.11700	-0.236000	0.07595	0.000000	0.06391	0.000000	0.08366	0.698000	0.34080	0.1912:0.8088:0.0:0.0	10.685	0.45033	546	0.72524	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	862.83	35	chr17	58194081	.	C	T	862.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-3.342;DP=202;ExcessHet=0;FS=6.398;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=20.07;ReadPosRankSum=0.427;SOR=0.144	GT:AD:DP:GQ:PL	0/1:16,27:43:99:873,0,514	5	0	1	0
chr17	59737489	59737489	A	C	exonic	VMP1	.	nonsynonymous SNV	VMP1:NM_001329394:exon4:c.A249C:p.L83F,VMP1:NM_001329395:exon4:c.A249C:p.L83F,VMP1:NM_001329396:exon4:c.A249C:p.L83F,VMP1:NM_001329397:exon4:c.A249C:p.L83F,VMP1:NM_030938:exon4:c.A249C:p.L83F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.049	0.0141066231821	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.197	0.20607	T	0.191	0.36101	T	0.006	0.13644	B	0.014	0.16862	B	0.000799	0.41772	N	0.212141	0.999944	0.81001	D	1.855	0.49169	L	0.04	0.62051	T	-1.78	0.42001	N	0.357	0.39861	-1.0221	0.23031	T	0.141	0.46091	T	10	0.14252281	0.27069	T	0.014107	0.34004	T	0.049	0.13647	0.353	0.35246	0.0675242888579	0.06100	0.5712040838939131	0.57048	0.91776774061	0.71314	0.544338107109	0.45059	T	0.089455	0.38377	T	-0.0827499	0.39266	T	-0.356641	0.38440	T	0.287641048431396	0.24491	T	0.718628	0.33863	T	0.062745705	0.13140	0.10852297	0.26143	0.062745705	0.13139	0.10852297	0.26142	-5.324	0.40180	T	.	.	0.076	0.19958	B	.;.;.;.	.;.;.;.	2.380794	0.30564	18.47	0.9833404357562634	0.40368	0.85375	0.44501	D	AEBI	0.569707	0.57438	D	-0.333592567050439	0.27880	1.533198	-0.17981141623968	0.32280	1.834908	0.128581799000209	0.17043	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.83	2.31	0.27816	2.188000	0.42243	3.622000	0.39288	0.691000	0.84096	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.7012:0.1125:0.1862:0.0	7.118	0.24604	542	0.72843	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.375	220.57	67	chr17	59737489	.	A	C	220.57	.	AC=3;AF=0.375;AN=8;BaseQRankSum=-0.594;DP=346;ExcessHet=1.383;FS=296.711;MLEAC=4;MLEAF=0.5;MQ=60;MQRankSum=0;QD=1.07;ReadPosRankSum=0.115;SOR=8.189	GT:AD:DP:GQ:PL	0/1:56,21:77:22:22,0,954	1	0	3	2
chr17	74881163	74881163	C	T	exonic	FADS6	.	nonsynonymous SNV	FADS6:NM_178128:exon4:c.G685A:p.V229M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.121	0.0155922668851	.	0.000199681	1.969e-05	0	0	0	0	0	0	0.0001	1.94e-05	3	154602	rs545669904	8.215e-06	8.209e-06	6.811e-06	9.635e-06	5.041e-05	4.38e-06	3.46e-06	8.35e-06	3.12e-06	0	2.242e-05	0	5.041e-05	0	0	4.498e-06	4.975e-05	1.162e-05	6.568e-06	6.561e-06	0	1.343e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	.	.	.	0.005	0.72224	D	.	.	.	.	.	.	0.000110	0.50451	D	0.133539	0.548316	0.31355	N	.	.	.	2.19	0.18724	T	.	.	.	0.182	0.24883	-1.0050	0.28457	T	0.044	0.19070	T	10	0.07244393	0.10815	T	0.015592	0.36407	T	.	.	.	.	0.202086224978	0.19791	.	.	.	.	0.442641526461	0.30939	T	.	.	.	-0.375297	0.03334	T	-0.594718	0.13259	T	0.374731570482254	0.27980	T	0.611339	0.23205	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.145	0.32969	B	.;.;.	.;.;.	1.407918	0.18227	13.62	0.9847918921350437	0.41954	0.20539	0.21078	N	AEFDBI	0.108585	0.21597	N	-0.751851639488302	0.14583	0.727643	-0.837380234609658	0.13591	0.7058842	0.0263347003022002	0.13706	0.57788	0.32782	0	0.59043	0.45803	0	0.608075	0.38828	0	0.542086	0.14980	0	.	.	5.08	2.03	0.25714	0.604000	0.23862	0.717000	0.20982	-1.890000	0.00534	0.086000	0.22486	0.179000	0.23406	0.779000	0.36868	0.0:0.5801:0.1337:0.2862	5.498	0.16106	893	0.26510	Fatty acid desaturase domain;Fatty acid desaturase domain;Fatty acid desaturase domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	898.83	34	chr17	74881163	.	C	T	898.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.375;DP=237;ExcessHet=0;FS=0.971;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.27;ReadPosRankSum=-0.514;SOR=0.507	GT:AD:DP:GQ:PL	0/1:27,36:63:99:909,0,622	5	0	1	0
chr17	74931085	74931085	C	T	exonic	OTOP2	.	nonsynonymous SNV	OTOP2:NM_178160:exon6:c.C1450T:p.P484S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.082	0.00751464351678	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1210880166	2.052e-06	2.052e-06	0	4.126e-06	2.32e-05	5.5e-07	1.5e-07	3.85e-06	1.44e-06	0	0	0	0	1.872e-05	0	0	0	2.32e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	0.425	0.13912	T	0.57	0.38545	P	0.133	0.33073	B	0.495406	0.12010	N	0.765925	0.620569	0.32701	D	1.12	0.28775	L	3.01	0.09075	T	0.15	0.05310	N	0.089	0.07262	-1.0394	0.17495	T	0.014	0.05417	T	10	0.084610164	0.14200	T	0.007515	0.19926	T	0.082	0.23913	0.382	0.39970	0.0611884634855	0.05136	0.3528539628892104	0.35199	0.188836824056	0.21202	0.382409214973	0.22598	T	0.005991	0.05431	T	-0.388954	0.02732	T	-0.695852	0.06055	T	0.0713237078918236	0.08835	T	0.423358	0.11306	T	0.02680129	0.01785	0.05504888	0.09583	0.02680129	0.01784	0.05504888	0.09582	-3.188	0.12334	T	.	.	0.081	0.08272	B	.;.	.;.	1.268098	0.16667	12.69	0.48984956677338404	0.04133	0.79884	0.39675	D	AEFBI	0.234497	0.35725	N	-0.822414885101916	0.12739	0.6228641	-0.778821866394629	0.15014	0.7875259	0.999288450485403	0.39007	0.497415	0.19182	0	0.59043	0.45803	0	0.59043	0.30614	0	0.542086	0.14980	0	.	.	4.96	2.98	0.33575	1.647000	0.36876	2.622000	0.33640	-0.175000	0.10903	0.648000	0.28154	0.288000	0.24148	0.005000	0.06747	0.0:0.8526:0.0:0.1474	11.429	0.49275	923	0.18507	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1170.83	37	chr17	74931085	.	C	T	1170.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-3.173;DP=243;ExcessHet=0;FS=2.899;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=20.19;ReadPosRankSum=-0.141;SOR=0.345	GT:AD:DP:GQ:PL	0/1:19,39:58:99:1181,0,556	5	0	1	0
chr17	75613752	75613752	C	A	exonic	MYO15B	.	nonsynonymous SNV	MYO15B:NM_001309242:exon28:c.C5080A:p.L1694M	.	409	1109	4	0	0	4	0.00180018	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0169728	0.0134	0.0217	0	0.0051	0	0	0	0.0199	0.0017723	274	154602	rs139523993	0.0031	0.0028	0.0023	0.0037	0.0201	0.0030	0.0029	0.0183	0.0176	0.0201	0.0015	0	0.0009	0	0.0015	0.0004	0.0032	0.0170	0.0064	0.0064	0.0063	0.0065	0.0197	0.0061	0.0059	0.0180	0.0176	0.0191	0	0.0028	0	0.0033	0	0	0.0003	0.0033	0.0197	.	.	.	0.066	0.54541	T	0.93	0.51791	P	0.365	0.43339	B	.	.	.	.	0.999997	0.08975	P	.	.	.	.	.	.	.	.	.	0.309	0.34874	.	.	.	.	.	.	.	0.0048088133	0.00102	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02609	0.19376	T	.	.	.	.	.	.	.	.	.	0.735926	0.36642	T	0.07234507	0.16086	0.16689095	0.38532	0.07234507	0.16085	0.16689095	0.38531	-8.746	0.66047	D	.	.	0.189	0.40666	B	.;.;.	.;.;.	0.612993	0.09813	6.579	0.87455459359359344	0.17240	0.18351	0.20225	N	AEFDBCI	.	.	.	.	.	.	.	.	.	0.999528953865247	0.40175	0.262962	0.04601	0	0.304816	0.05638	0	0.117705	0.03188	2	0.24566	0.04862	0	0.206682	0.30772	5.42	-6.25	0.01863	-0.483000	0.06616	-2.720000	0.03431	-0.176000	0.10722	0.001000	0.13787	0.000000	0.08366	0.831000	0.39176	0.092:0.1001:0.0:0.8079	12.267	0.54000	976	0.04745	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	997.83	34	chr17	75613752	.	C	A	997.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.744;DP=268;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.34;ReadPosRankSum=-0.589;SOR=0.608	GT:AD:DP:GQ:PL	0/1:44,44:88:99:1008,0,1110	5	0	1	0
chr17	75749025	75749025	C	G	exonic	ITGB4	.	nonsynonymous SNV	ITGB4:NM_001005619:exon26:c.C3296G:p.T1099S,ITGB4:NM_000213:exon27:c.C3296G:p.T1099S,ITGB4:NM_001005731:exon27:c.C3296G:p.T1099S,ITGB4:NM_001321123:exon27:c.C3296G:p.T1099S	Epidermolysis bullosa of hands and feet, Autosomal dominant;Epidermolysis bullosa, junctional, non-Herlitz type, Autosomal recessive;Epidermolysis bullosa, junctional, with pyloric atresia, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.068	0.0303834520516	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.424e-05	0.0015	9.185e-05	7.66e-05	9.909e-05	7.176e-05	6.712e-05	8.354e-05	7.787e-05	9.227e-05	0	0	0	0	0	9.909e-05	8.496e-05	5.863e-05	3.31e-05	6.589e-05	1.294e-05	5.42e-05	0.0002	1.268e-05	8.03e-06	4.91e-06	1.84e-06	2.421e-05	0	0	0	0	9.634e-05	0	2.956e-05	0	0.0002	0.002	0.72154	D	0.01	0.66756	D	0.902	0.56408	P	0.585	0.56556	P	0.000127	0.49741	D	0.135690	0.99842	0.44899	D	1.7	0.43825	L	1.41	0.33412	T	-1.84	0.43149	N	0.548	0.57433	-1.0563	0.12698	T	0.091	0.34820	T	10	0.48247474	0.60513	T	0.030383	0.52709	D	0.068	0.19811	0.275	0.22687	0.769952734743	0.76784	0.5578496369941545	0.55711	0.292936544315	0.31716	0.440746605396	0.30679	T	0.17119	0.51922	T	-0.14281	0.29444	T	-0.442913	0.28482	T	0.830028891563416	0.48532	D	0.711829	0.32778	T	0.48351398	0.66113	0.23997939	0.49361	0.48351398	0.66113	0.23997939	0.49360	-5.715	0.44338	T	0.5097648672697275	0.58368	0.123	0.25882	B	.;.;.;.	.;.;.;.	3.029679	0.40581	21.2	0.38500852697330945	0.02600	0.97196	0.73256	D	AEFBI	0.571759	0.57561	D	0.0815504541283303	0.45603	2.814062	0.0276339862330141	0.41003	2.45617	0.997117847965658	0.35288	0.615465	0.37627	0	0.547309	0.14657	0	0.658983	0.55881	0	0.562822	0.20929	0	.	.	5.24	4.26	0.49832	3.022000	0.49342	5.871000	0.50535	0.596000	0.33519	0.993000	0.37899	1.000000	0.68203	0.026000	0.12556	0.0:0.7874:0.1385:0.0741	10.148	0.41952	970	0.06235	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1667	147.9	77	chr17	75749025	.	C	G	147.9	.	AC=1;AF=0.167;AN=6;BaseQRankSum=-5.68;DP=514;ExcessHet=0;FS=64.737;MLEAC=1;MLEAF=0.167;MQ=60;MQRankSum=0;QD=1.24;ReadPosRankSum=1.54;SOR=5.89	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:101,18:119:99:0|1:75749025_C_G:155,0,3853:75749025	2	0	1	3
chr17	75749027	75749027	A	G	exonic	ITGB4	.	nonsynonymous SNV	ITGB4:NM_001005619:exon26:c.A3298G:p.I1100V,ITGB4:NM_000213:exon27:c.A3298G:p.I1100V,ITGB4:NM_001005731:exon27:c.A3298G:p.I1100V,ITGB4:NM_001321123:exon27:c.A3298G:p.I1100V	Epidermolysis bullosa of hands and feet, Autosomal dominant;Epidermolysis bullosa, junctional, non-Herlitz type, Autosomal recessive;Epidermolysis bullosa, junctional, with pyloric atresia, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009	0.0093230332651	.	.	8.858e-06	0	0	0	0	0	0	6.332e-05	6.5e-06	1	154602	rs754732749	7.125e-06	0.0003	8.531e-06	5.712e-06	3.103e-05	3.6e-06	2.63e-06	3.9e-06	1.76e-06	3.103e-05	0	0	0	0	0	6.562e-06	0	2.349e-05	0	6.661e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.849	0.02746	T	0.809	0.04181	T	0.0	0.07471	B	0.002	0.11217	B	0.065166	0.21900	N	0.445414	0.999584	0.20930	N	-1.15	0.00907	N	1.86	0.24285	T	-0.03	0.07444	N	0.247	0.30233	-0.9613	0.38936	T	0.021	0.08824	T	10	0.033866435	0.01575	T	0.009323	0.24459	T	0.009	0.00846	0.347	0.34274	0.238705975628	0.23479	0.35367653431977275	0.35281	0.239067160317	0.26460	0.284727245569	0.08161	T	0.053934	0.29583	T	-0.388524	0.02750	T	-0.695234	0.06090	T	0.0165865860176989	0.00419	T	0.564644	0.19916	T	0.041757572	0.06208	0.027220517	0.00859	0.041757572	0.06208	0.027220517	0.00859	-3.025	0.10719	T	0.07366712146606559	0.03127	0.061	0.02285	B	.;.;.;.	.;.;.;.	-0.703055	0.01314	0.071	0.21339881658324758	0.00809	0.01218	0.04323	N	AEFBI	0.107465	0.21410	N	-1.52727890269447	0.01672	0.07316043	-1.46805690100194	0.02610	0.1203548	0.806248547502662	0.24275	0.615465	0.37627	0	0.547309	0.14657	0	0.658983	0.55881	0	0.562822	0.20929	0	.	.	5.24	-1.46	0.08338	0.466000	0.21731	-0.520000	0.08695	-1.306000	0.01239	0.111000	0.23011	0.000000	0.08366	0.026000	0.12556	0.5122:0.0:0.4878:0.0	10.078	0.41546	970	0.06235	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.25	149.25	77	chr17	75749027	.	A	G	149.25	.	AC=1;AF=0.25;AN=4;BaseQRankSum=-2.886;DP=492;ExcessHet=0;FS=64.737;MLEAC=2;MLEAF=0.5;MQ=60;MQRankSum=0;QD=1.25;ReadPosRankSum=1.51;SOR=5.89	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:101,18:119:99:0|1:75749025_C_G:155,0,3853:75749025	1	0	1	4
chr17	76007755	76007755	G	C	exonic	EVPL	.	nonsynonymous SNV	EVPL:NM_001320747:exon22:c.C5516G:p.S1839C,EVPL:NM_001988:exon22:c.C5450G:p.S1817C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.108	0.0629709911113	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009	0.57480	D	0.077	0.45110	T	0.993	0.65571	D	0.72	0.54860	P	0.046725	0.23411	N	0.472008	1	0.08975	N	1.645	0.42016	L	-0.43	0.69657	T	-1.9	0.44284	N	0.228	0.26717	-0.6923	0.60801	T	0.298	0.66942	T	10	0.22776076	0.39664	T	0.062971	0.68822	D	0.108	0.30607	0.375	0.38830	0.709025157765	0.70648	0.3181217063644736	0.31725	0.21898844824	0.24440	0.352479279041	0.18286	T	0.193369	0.54882	T	-0.070111	0.41310	T	-0.338486	0.40516	T	0.424216330051422	0.29846	T	0.673733	0.28234	T	0.14577644	0.33402	0.15694636	0.36721	0.14577644	0.33401	0.15694636	0.36720	-7.225	0.55660	T	.	.	0.073	0.04764	B	.;.	.;.	2.745551	0.35970	20.1	0.90825066418719336	0.20074	0.39012	0.26117	N	AEFGBHCI	0.365960	0.45395	N	-0.182434568784347	0.33867	1.926306	-0.243046490386023	0.30011	1.686156	0.998800898080147	0.37711	0.580535	0.33130	0	0.547309	0.14657	0	0.576033	0.28219	0	0.562822	0.20929	0	.	.	5.25	5.25	0.73169	2.364000	0.43840	3.887000	0.40272	0.665000	0.62972	0.487000	0.26855	1.000000	0.68203	0.183000	0.21389	0.0:0.0:0.807:0.193	13.71	0.62143	706	0.57215	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1174.83	35	chr17	76007755	.	G	C	1174.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.042;DP=316;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.77;ReadPosRankSum=-0.262;SOR=0.619	GT:AD:DP:GQ:PL	0/1:47,45:92:99:1185,0,1334	5	0	1	0
chr17	78131664	78131664	A	T	exonic	TMC8	.	nonsynonymous SNV	TMC8:NM_152468:exon2:c.A76T:p.M26L	Epidermodysplasia verruciformis, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	3620251	Inborn_genetic_diseases	MeSH:D030342,MedGen:C0950123	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.074	0.0436377313524	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1224236608	2.825e-06	2.736e-06	1.397e-06	4.284e-06	3.67e-06	6.6e-07	4.5e-07	8.6e-07	5.8e-07	0	0	0	0	0	0	3.67e-06	0	0	1.314e-05	1.313e-05	2.57e-05	0	2.94e-05	2.18e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.94e-05	0	0	0.654	0.04786	T	0.145	0.36901	T	0.0	0.02946	B	0.0	0.01387	B	0.975995	0.07810	N	1.015750	1	0.81001	D	1.68	0.43186	L	-0.75	0.73311	T	-1.04	0.27259	N	0.238	0.26837	-0.8668	0.50768	T	0.137	0.45260	T	10	0.066233516	0.09054	T	0.043638	0.61084	D	0.074	0.21613	0.368	0.37687	0.311079019809	0.30711	0.5793361551651859	0.57862	1.12626040767	0.78466	0.67870080471	0.64083	T	0.008449	0.07757	T	-0.164481	0.26074	T	-0.474042	0.25082	T	0.0419952609311506	0.04054	T	0.671133	0.28021	T	0.069977865	0.15376	0.057595946	0.10497	0.069977865	0.15376	0.057595946	0.10497	-1.507	0.01778	T	0.09813306485725724	0.06981	0.581	0.68102	P	.;.	.;.	1.456606	0.18786	13.92	0.86652507681483981	0.16681	0.53722	0.29441	D	AEFDBHCI	0.237686	0.35993	N	-0.918827945622379	0.10402	0.4969062	-0.806547885474798	0.14337	0.7486091	0.999998815022834	0.74766	0.525926	0.21836	0	0.52208	0.09955	0	0.503968	0.08637	0	0.584449	0.35598	0	.	.	3.13	-0.645	0.10899	1.213000	0.32011	-0.799000	0.07382	0.658000	0.54486	0.992000	0.37556	0.000000	0.08366	0.859000	0.40722	0.4873:0.2361:0.2766:0.0	2.974	0.05571	856	0.34373	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	132.83	35	chr17	78131664	.	A	T	132.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.489;DP=153;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=9.49;ReadPosRankSum=-0.559;SOR=0.33	GT:AD:DP:GQ:PL	0/1:7,7:14:99:143,0,202	5	0	1	0
chr17	80309105	80309105	G	C	exonic	RNF213	.	nonsynonymous SNV	RNF213:NM_001256071:exon14:c.G2589C:p.K863N,RNF213:NM_020954:exon14:c.G2589C:p.K863N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.042	0.0111126796292	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1407377122	5.472e-06	5.472e-06	6.806e-06	4.125e-06	4.637e-05	2.35e-06	1.7e-06	1.583e-05	9.3e-06	0	0	0	0	0	0	3.597e-06	0	4.637e-05	6.57e-06	6.567e-06	0	1.345e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.469	0.20759	T	0.415	0.40267	T	.	.	.	.	.	.	0.000577	0.00639	N	3.163830	1	0.08975	N	1.04	0.26193	L	2.58	0.13434	T	-1.05	0.37955	N	0.218	0.24385	-1.0222	0.22998	T	0.022	0.09375	T	10	0.10433486	0.19229	T	0.011113	0.28394	T	0.042	0.11227	.	.	0.234412748748	0.23057	.	.	0.426814418102	0.43046	0.308584690094	0.11693	T	0.040417	0.25761	T	-0.378954	0.03163	T	-0.766632	0.02880	T	0.0872386963316469	0.10887	T	0.316668	0.12136	T	.	.	.	.	.	.	.	.	-3.492	0.16320	T	.	.	0.163	0.35951	B	.;.;.	.;.;.	0.579225	0.09474	6.255	0.5854376584505131	0.06017	0.06365	0.12366	N	AEFDGBIJ	0.037098	0.05047	N	-1.03706164962578	0.07843	0.3657616	-1.13938486816717	0.06961	0.3368339	0.00381504973179052	0.10290	0.744818	0.98587	0	0.724815	0.89359	0	0.732433	0.93434	0	0.714379	0.83352	0	.	.	5.38	-2.48	0.06052	0.242000	0.17862	-0.578000	0.08391	-0.148000	0.12190	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.1553:0.3819:0.3326:0.1303	3.172	0.06164	867	0.32089	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	692.83	34	chr17	80309105	.	G	C	692.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.917;DP=241;ExcessHet=0;FS=3.228;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=9.62;ReadPosRankSum=1.38;SOR=0.726	GT:AD:DP:GQ:PL	0/1:41,31:72:99:703,0,1068	5	0	1	0
chr17	81103530	81103530	C	T	exonic	BAIAP2	.	nonsynonymous SNV	BAIAP2:NM_001385150:exon6:c.C437T:p.P146L,BAIAP2:NM_001385151:exon6:c.C437T:p.P146L,BAIAP2:NM_001385152:exon6:c.C437T:p.P146L,BAIAP2:NM_001385153:exon6:c.C437T:p.P146L,BAIAP2:NM_001385154:exon6:c.C437T:p.P146L,BAIAP2:NM_001385155:exon6:c.C437T:p.P146L,BAIAP2:NM_001385156:exon6:c.C437T:p.P146L,BAIAP2:NM_001385147:exon7:c.C497T:p.P166L,BAIAP2:NM_001385149:exon7:c.C497T:p.P166L,BAIAP2:NM_001144888:exon8:c.C671T:p.P224L,BAIAP2:NM_001385127:exon8:c.C671T:p.P224L,BAIAP2:NM_001385128:exon8:c.C671T:p.P224L,BAIAP2:NM_001385131:exon8:c.C671T:p.P224L,BAIAP2:NM_001385138:exon8:c.C671T:p.P224L,BAIAP2:NM_001385139:exon8:c.C671T:p.P224L,BAIAP2:NM_001385140:exon8:c.C671T:p.P224L,BAIAP2:NM_001385141:exon8:c.C671T:p.P224L,BAIAP2:NM_001385144:exon8:c.C665T:p.P222L,BAIAP2:NM_001385145:exon8:c.C671T:p.P224L,BAIAP2:NM_001385146:exon8:c.C671T:p.P224L,BAIAP2:NM_001385148:exon8:c.C497T:p.P166L,BAIAP2:NM_006340:exon8:c.C671T:p.P224L,BAIAP2:NM_017450:exon8:c.C671T:p.P224L,BAIAP2:NM_017451:exon8:c.C671T:p.P224L,BAIAP2:NM_001385129:exon9:c.C770T:p.P257L,BAIAP2:NM_001385130:exon9:c.C770T:p.P257L,BAIAP2:NM_001385132:exon9:c.C770T:p.P257L,BAIAP2:NM_001385133:exon9:c.C770T:p.P257L,BAIAP2:NM_001385134:exon9:c.C770T:p.P257L,BAIAP2:NM_001385135:exon9:c.C770T:p.P257L,BAIAP2:NM_001385136:exon9:c.C770T:p.P257L,BAIAP2:NM_001385137:exon9:c.C746T:p.P249L	.	.	.	.	.	.	.	.	.	.	.	2340156	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.356	0.129281192573	0.0002	.	0.0002	0	0	0	0	0.0002	0	0.0002	6.47e-05	10	154602	rs369167632	3.27e-05	3.899e-05	3.183e-05	3.358e-05	8.277e-05	2.52e-05	2.258e-05	3.832e-05	2.704e-05	6.032e-05	4.627e-05	3.867e-05	0	0	0	2.982e-05	3.346e-05	8.277e-05	3.941e-05	3.94e-05	2.569e-05	5.378e-05	7.349e-05	1.715e-05	1.129e-05	2.846e-05	1.858e-05	0	0	6.54e-05	0	0	0	0	7.349e-05	0	0	0.001	0.78490	D	0.002	0.79402	D	1.0	0.90584	D	0.994	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.1	0.58353	M	1.42	0.34452	T	-6.36	0.92173	D	0.808	0.83576	-0.8230	0.53746	T	0.225	0.58894	T	10	0.7647332	0.76616	D	0.129281	0.81132	D	0.356	0.67691	.	.	0.897369660665	0.89635	0.9045814661761498	0.90431	1.80444484246	0.91712	0.697999536991	0.66856	T	0.69685	0.91235	D	0.133374	0.67688	D	-0.0461936	0.67282	D	0.854862630367279	0.50590	D	0.993034	0.99924	D	0.6802316	0.76981	0.7041763	0.82563	0.6802316	0.76983	0.7041763	0.82564	-12.311	0.86690	D	.	.	0.223	0.63200	B	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	5.443621	0.90965	32	0.99901295364343845	0.97275	0.99636	0.98212	D	AEFDBI	0.950664	0.96451	D	0.754498609006677	0.83197	7.954794	0.74605263143618	0.85862	8.708857	0.999999999996484	0.74766	0.695654	0.57023	0	0.588066	0.40923	0	0.723109	0.80598	0	0.699875	0.68795	0	.	.	5.5	5.5	0.81386	7.440000	0.79607	7.569000	0.60664	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.978000	0.57271	0.0:1.0:0.0:0.0	19.416	0.94691	.	.	.;.;.;IMD/I-BAR domain|IMD/I-BAR domain;.;IMD/I-BAR domain|IMD/I-BAR domain;IMD/I-BAR domain|IMD/I-BAR domain;IMD/I-BAR domain|IMD/I-BAR domain;IMD/I-BAR domain|IMD/I-BAR domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	743.83	33	chr17	81103530	.	C	T	743.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.73;DP=278;ExcessHet=0;FS=2.878;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=8.09;ReadPosRankSum=0.574;SOR=0.432	GT:AD:DP:GQ:PL	0/1:59,33:92:99:754,0,1403	5	0	1	0
chr17	82831587	82831587	G	T	exonic	ZNF750	.	nonsynonymous SNV	ZNF750:NM_024702:exon2:c.C868A:p.P290T	Seborrhea-like dermatitis with psoriasiform elements	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.178	0.0257778068649	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	0.56456	D	0.034	0.52727	D	0.999	0.77913	D	0.951	0.68939	D	0.000124	0.49741	D	0.085250	1	0.81001	D	1.83	0.48079	L	2.61	0.13095	T	-3.62	0.69593	D	0.513	0.54409	-1.0495	0.14537	T	0.094	0.35738	T	9	0.45234627	0.58777	T	0.025778	0.48731	D	0.178	0.44724	0.322	0.30226	0.15499578495	0.15088	0.341381066199208	0.34051	0.570514662331	0.53208	0.434681653976	0.29849	T	0.080468	0.36369	T	-0.0812956	0.39504	T	-0.354552	0.38683	T	0.958997488021851	0.65417	D	0.833117	0.50161	T	0.14138332	0.32580	0.16986768	0.39053	0.14138332	0.32579	0.16986768	0.39052	-3.641	0.18452	T	.	.	0.088	0.11510	B	.	.	2.436807	0.31360	18.72	0.9966369993632288	0.78138	0.95130	0.63548	D	AEFDBI	.	.	.	0.40268191286888	0.61569	4.359877	0.314049879837559	0.56363	3.799684	0.999907269638349	0.45458	0.580535	0.33130	0	0.446627	0.06534	0	0.576033	0.28219	0	0.491896	0.07777	0	.	.	5.34	4.35	0.51454	3.533000	0.53317	3.443000	0.38394	-0.123000	0.13640	1.000000	0.71638	1.000000	0.68203	0.062000	0.16114	0.0:0.1435:0.8565:0.0	14.959	0.70791	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1919.83	75	chr17	82831587	.	G	T	1919.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.601;DP=354;ExcessHet=0;FS=0.652;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.54;ReadPosRankSum=1.75;SOR=0.743	GT:AD:DP:GQ:PL	0/1:57,75:132:99:1930,0,1480	5	0	1	0
chr17	82941437	82941437	G	A	exonic	TBCD	.	nonsynonymous SNV	TBCD:NM_005993:exon38:c.G3518A:p.R1173H	Encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum, Autosomal recessive	430	1086	6	0	0	6	0.00275482	.	.	.	727614	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.031	0.00692511172022	0.0022	0.00159744	0.0046	0.0009	0.0009	0	0.0055	0.0060	0	0.0054	0.0030336	469	154602	rs188081246	0.0038	0.0039	0.0038	0.0039	0.0043	0.0037	0.0037	0.0042	0.0042	0.0006	0.0006	0	0.0001	0.0035	0.0024	0.0043	0.0028	0.0041	0.0025	0.0025	0.0025	0.0025	0.0058	0.0023	0.0022	0.0041	0.0036	0.0010	0	0.0007	0.0003	0	0.0017	0	0.0041	0.0005	0.0058	0.61	0.05468	T	0.316	0.20037	T	0.021	0.18474	B	0.003	0.08700	B	0.003407	0.34985	N	0.250761	0.56329	0.31239	N	1.905	0.50856	L	2.26	0.22678	T	-0.89	0.24026	N	0.078	0.14196	-1.0286	0.20908	T	0.024	0.10058	T	9	0.00836581	0.00190	T	0.006925	0.18317	T	0.031	0.07369	.	.	0.333906830038	0.33007	0.15779743651091782	0.15700	0.360914283252	0.37751	0.278453350067	0.07278	T	0.026801	0.19761	T	-0.568064	0.00227	T	-0.584616	0.14135	T	0.00520182746446725	0.00056	T	0.872413	0.57909	D	0.019906789	0.00533	0.023560254	0.00369	0.02408161	0.01205	0.026416073	0.00730	-5.708	0.43765	T	0.1685342875303827	0.21079	0.066	0.10642	B	.;.;.	.;.;.	1.079337	0.14625	11.18	0.95133648036115215	0.26247	0.26430	0.22990	N	AEFDBI	0.112383	0.22215	N	-0.746140124865356	0.14738	0.7367289	-0.73863587020575	0.16002	0.8444263	0.021787181436635	0.13378	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	4.96	-2.5	0.06015	-0.107000	0.10843	0.218000	0.16040	0.676000	0.76740	0.846000	0.30379	0.004000	0.18990	0.202000	0.21954	0.4168:0.0:0.4492:0.134	5.443	0.15819	.	.	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.003543	0.000000	0.005435	0.008824	0.000000	0.000000	0.000000	0.000000	0.08333	856.83	34	chr17	82941437	.	G	A	856.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.71;DP=254;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.98;ReadPosRankSum=0.237;SOR=0.7	GT:AD:DP:GQ:PL	0/1:33,33:66:99:867,0,771	5	0	1	0
chr18	669146	669146	A	G	exonic	TYMS	.	nonsynonymous SNV	TYMS:NM_001354868:exon2:c.A280G:p.I94V,TYMS:NM_001071:exon4:c.A529G:p.I177V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.609	0.0150012600929	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	4.105e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.68238	D	0.008	0.67890	D	0.487	0.36886	P	0.573	0.49966	P	0.000000	0.84330	D	0.090944	1	0.81001	D	3.18	0.88827	M	.	.	.	-0.67	0.20576	N	0.435	0.47395	0.084	0.83871	D	0.460	0.79061	T	9	0.5036172	0.61691	D	0.015001	0.35474	T	0.609	0.84666	0.642	0.77903	0.340919117937	0.33698	0.57782318669284	0.57711	0.876382934453	0.69585	0.559849262238	0.47247	T	0.352247	0.71971	T	0.0461689	0.57847	T	-0.171458	0.57309	T	0.938693404197693	0.60952	D	0.974802	0.92791	D	0.5951796	0.72431	0.33740193	0.59531	0.5951796	0.72432	0.33740193	0.59530	-10.087	0.74431	D	.	.	0.265	0.52977	B	.;.	.;.	3.839067	0.55545	23.6	0.99873322863001357	0.95076	0.97660	0.76227	D	AEFDBCI	0.737997	0.68302	D	0.471780638985753	0.65449	4.823928	0.424275414619141	0.63080	4.53498	0.999999747572527	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.57	3.02	0.33970	5.743000	0.68292	7.836000	0.70319	0.684000	0.82519	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.7349:0.2651:0.0:0.0	12.411	0.54800	840	0.37365	Thymidylate synthase/dCMP hydroxymethylase domain|Thymidylate synthase/dCMP hydroxymethylase domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2	88.12	43	chr18	669146	.	A	G	88.12	.	AC=2;AF=0.2;AN=10;BaseQRankSum=-1.204;DP=390;ExcessHet=0.4139;FS=154.922;MLEAC=1;MLEAF=0.1;MQ=60;MQRankSum=0;QD=0.46;ReadPosRankSum=-0.219;SOR=7.427	GT:AD:DP:GQ:PL	0/1:80,27:107:95:95,0,1559	3	0	2	1
chr18	9887397	9887397	C	0	exonic	TXNDC2	.	.	.	.	477	317	422	139	167	867	0.524738	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	36132.4	408	chr18	9887397	.	C	*	36132.4	.	AC=2;AF=0.2;AN=10;BaseQRankSum=5.43;DP=2619;ExcessHet=0;FS=0.787;MLEAC=2;MLEAF=0.2;MQ=58.83;MQRankSum=2.47;QD=19.7;ReadPosRankSum=0.022;SOR=0.548	GT:AD:DP:GQ:PL	0/1:185,109:294:99:3815,0,6950	3	0	2	1
chr18	10540396	10540396	G	A	exonic	NAPG	.	nonsynonymous SNV	NAPG:NM_003826:exon8:c.G503A:p.R168H	.	428	1089	5	0	0	5	0.00229043	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.240	0.0696154579722	0.0003	0.000998403	0.0009	0.0002	0.0014	0	0	0.0013	0.0034	0.0002	0.0008344	129	154602	rs143915056	0.0008	0.0008	0.0007	0.0008	0.0066	0.0007	0.0007	0.0049	0.0044	0.0006	0.0011	0.0106	0	5.65e-05	0.0066	0.0006	0.0014	0.0003	0.0006	0.0006	0.0007	0.0004	0.0007	0.0005	0.0004	0.0004	0.0003	0.0001	0	0.0007	0.0089	0	0	0	0.0005	0.0009	0.0004	0.036	0.43393	D	0.106	0.37872	T	0.983	0.60381	D	0.497	0.47562	P	0.000017	0.62929	D	0.187435	0.999999	0.58761	D	1.935	0.51832	L	-1.01	0.76168	T	-1.67	0.39887	N	0.423	0.46274	-0.2243	0.77037	T	0.422	0.76704	T	10	0.010468781	0.00233	T	0.069615	0.70777	D	0.240	0.54500	.	.	0.882464406444	0.88130	0.5444775080861449	0.54373	0.432589321171	0.43428	0.701806128025	0.67405	T	0.045664	0.27191	T	-0.241383	0.15173	T	-0.165058	0.57895	T	0.0822120010852814	0.10268	T	0.948405	0.80130	D	0.05393279	0.10277	0.076638035	0.16992	0.05393279	0.10276	0.076638035	0.16992	-6.379	0.49345	T	.	.	0.086	0.10787	B	.	.	4.296700	0.65572	24.8	0.99949895232128616	0.99938	0.97678	0.76352	D	AEFBI	0.671893	0.63848	D	0.602898797869393	0.73357	5.95301	0.671260098904856	0.80201	7.246884	0.999999952243803	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.96	5.96	0.96695	5.700000	0.67974	7.465000	0.59093	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.911000	0.44643	0.0:0.0:1.0:0.0	20.404	0.99007	849	0.35778	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.004028	0.005051	0.001359	0.020468	0.000000	0.008621	0.006098	0.000000	0.08333	390.83	33	chr18	10540396	.	G	A	390.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.22;DP=233;ExcessHet=0;FS=1.072;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=7.24;ReadPosRankSum=-0.218;SOR=0.532	GT:AD:DP:GQ:PL	0/1:35,19:54:99:401,0,803	5	0	1	0
chr18	10784844	10784844	C	G	exonic	PIEZO2	.	nonsynonymous SNV	PIEZO2:NM_001378183:exon17:c.G2432C:p.R811P,PIEZO2:NM_022068:exon17:c.G2432C:p.R811P	Arthrogryposis, distal, type 3, Autosomal dominant;Arthrogryposis, distal, type 5, Autosomal dominant;Arthrogryposis, distal, with impaired proprioception and touch, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.232	0.012513485835	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.609e-06	3.42e-06	2.85e-06	4.389e-06	4.634e-06	1.06e-06	7.7e-07	1.36e-06	9.9e-07	0	0	0	0	0	0	4.634e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.588	0.05844	T	0.789	0.04260	T	0.991	0.64070	D	0.866	0.61580	P	0.329383	0.14139	U	0.519754	0.977794	0.39400	D	0.835	0.21042	L	3.71	0.04046	T	1.78	0.00525	N	0.349	0.41459	-1.0033	0.28963	T	0.017	0.07140	T	10	0.16513905	0.30876	T	0.012513	0.31146	T	0.232	0.53354	0.568	0.69034	0.138757226776	0.13463	0.7186279240829311	0.71805	0.996775684787	0.74260	0.642878651619	0.58974	T	0.002824	0.03768	T	0.0429338	0.57428	T	-0.176105	0.56882	T	0.601510297826111	0.36460	D	0.851815	0.57574	D	0.09974265	0.23543	0.19582626	0.43281	0.09974265	0.23542	0.19582626	0.43280	-5.517	0.43924	T	0.2620120011300802	0.35365	0.486	0.63923	A	.;.;.;.	.;.;.;.	3.495510	0.48878	22.7	0.96145676161906812	0.28850	0.31683	0.24399	N	AEFBHCI	0.707846	0.66245	D	-0.0074110020009423	0.41520	2.484898	0.0193157378792987	0.40613	2.426527	0.9999899017307	0.51787	0.706548	0.73137	0	0.724815	0.89359	0	0.650271	0.49498	0	0.638833	0.57524	0	.	.	5.35	4.46	0.53567	0.008000	0.13095	-0.459000	0.09050	-0.177000	0.10537	0.002000	0.15269	0.000000	0.08366	0.997000	0.79791	0.0:0.9259:0.0:0.0741	13.784	0.62585	799	0.44747	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	440.83	33	chr18	10784844	.	C	G	440.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.74;DP=219;ExcessHet=0;FS=4.18;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=9.18;ReadPosRankSum=-0.084;SOR=1.258	GT:AD:DP:GQ:PL	0/1:29,19:48:99:451,0,651	5	0	1	0
chr18	13645559	13645559	G	A	exonic	LDLRAD4	.	nonsynonymous SNV	LDLRAD4:NM_001003675:exon3:c.G658A:p.A220T,LDLRAD4:NM_001276251:exon3:c.G529A:p.A177T,LDLRAD4:NM_001003674:exon4:c.G712A:p.A238T,LDLRAD4:NM_001276249:exon4:c.G592A:p.A198T,LDLRAD4:NM_001378098:exon6:c.G823A:p.A275T,LDLRAD4:NM_001378101:exon6:c.G769A:p.A257T,LDLRAD4:NM_181482:exon6:c.G769A:p.A257T,LDLRAD4:NM_001378099:exon7:c.G823A:p.A275T,LDLRAD4:NM_001378100:exon7:c.G823A:p.A275T,LDLRAD4:NM_181481:exon7:c.G823A:p.A275T	.	413	1107	2	0	0	2	0.000902527	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.058	0.00219655202495	0.0003	0.000199681	0.0006	0	0	0	0.0003	0.0004	0	0.0033	0.0004916	76	154602	rs145573407	0.0004	0.0004	0.0004	0.0005	0.0022	0.0004	0.0004	0.0020	0.0019	6.01e-05	0	3.907e-05	2.522e-05	7.534e-05	0.0005	0.0004	0.0005	0.0022	0.0003	0.0003	0.0003	0.0003	0.0025	0.0002	0.0002	0.0014	0.0011	4.811e-05	0	0	0.0003	0	9.422e-05	0	0.0004	0.0005	0.0025	0.366	0.11696	T	0.369	0.18125	T	0.004	0.12996	B	0.001	0.04355	B	0.654604	0.05943	N	1.166650	1	0.08975	N	0.17	0.09006	N	1.72	0.44461	T	-0.66	0.19085	N	0.044	0.15046	-0.9337	0.43590	T	0.034	0.14726	T	10	0.0040359497	0.00078	T	0.002197	0.04151	T	0.058	0.16647	.	.	0.0762999501168	0.06990	0.17128612345462485	0.17048	.	.	0.32985958457	0.14913	T	0.014178	0.12117	T	-0.632869	0.00092	T	-0.688016	0.06504	T	0.00671076003159661	0.00075	T	0.616038	0.25461	T	0.015713913	0.00154	0.034457814	0.02516	0.015713913	0.00153	0.034457814	0.02516	-3.208	0.13932	T	.	.	0.061	0.01577	B	.;.;.;.;.;.	.;.;.;.;.;.	0.024419	0.04454	1.176	0.57962666815720598	0.05885	0.27758	0.23366	N	AEFDBI	0.096934	0.19560	N	-1.53124891716467	0.01647	0.07205335	-1.57269422150639	0.01824	0.08309764	0.999248203937746	0.38873	0.706548	0.73137	0	0.724815	0.89359	0	0.602189	0.34648	0	0.586402	0.36253	0	.	.	4.62	-6.28	0.01844	0.322000	0.19323	-0.501000	0.08802	-0.739000	0.03678	0.061000	0.21800	0.000000	0.08366	0.016000	0.10718	0.5503:0.0:0.3615:0.0882	10.066	0.41479	862	0.33134	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	568.83	35	chr18	13645559	.	G	A	568.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.109;DP=249;ExcessHet=0;FS=6.54;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=7.58;ReadPosRankSum=0.282;SOR=1.522	GT:AD:DP:GQ:PL	0/1:48,27:75:99:579,0,1290	5	0	1	0
chr18	14513679	14513679	T	G	exonic	POTEC	.	nonsynonymous SNV	POTEC:NM_001137671:exon10:c.A1516C:p.K506Q	.	1001	337	183	1	0	185	0.215367	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.021	0.000961216431828	.	.	.	.	.	.	.	.	.	.	8.41e-05	13	154602	rs28606506	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.061	0.37118	T	0.267	0.22561	T	0.455	0.36245	P	0.137	0.33328	B	.	.	.	.	1	0.08975	N	2.35	0.67516	M	1.38	0.34050	T	0.11	0.05706	N	0.36	0.40164	-1.0459	0.15563	T	0.060	0.25273	T	9	0.10279083	0.18859	T	9.61E-4	0.00980	T	0.021	0.04004	0.44	0.49484	0.191931220699	0.18833	0.008575884169956268	0.00821	.	.	0.661467790604	0.61620	T	0.009409	0.08568	T	-0.232587	0.16309	T	-0.571872	0.15279	T	0.115140116944907	0.13948	T	0.559044	0.19511	T	0.0817621	0.18801	0.04864013	0.07268	0.0817621	0.18801	0.04864013	0.07268	-3.826	0.21193	T	.	.	0.126	0.26545	B	.	.	1.424813	0.18423	13.73	0.59010782571540543	0.06124	0.01638	0.05273	N	AEFI	0.034532	0.04293	N	-0.924811265974744	0.10264	0.4896489	-1.10812489953313	0.07544	0.3673648	1.29605380073252E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.53	-0.976	0.09761	1.060000	0.30139	.	.	0.332000	0.19570	0.003000	0.16062	0.000000	0.08366	0.028000	0.12845	0.0:0.4792:0.0:0.5208	4.177	0.09818	940	0.13648	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.25	589.03	33	chr18	14513679	.	T	G	589.03	.	AC=3;AF=0.25;AN=12;BaseQRankSum=2.66;DP=539;ExcessHet=1.383;FS=10.147;MLEAC=3;MLEAF=0.25;MQ=50.73;MQRankSum=-7.677;QD=1.38;ReadPosRankSum=-2.477;SOR=1.638	GT:AD:DP:GQ:PL	0/1:114,27:141:99:425,0,2890	3	0	3	0
chr18	35264312	35264312	T	A	exonic	ZSCAN30	.	nonsynonymous SNV	ZSCAN30:NM_001112734:exon2:c.A41T:p.E14V,ZSCAN30:NM_001166012:exon3:c.A41T:p.E14V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.022	0.00691345299443	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.028	0.46129	D	0.067	0.64786	T	0.039	0.39217	B	0.023	0.33681	B	.	.	.	.	0.995364	0.23308	N	1.665	0.42610	L	3.13	0.10975	T	-2.57	0.55501	D	0.164	0.23884	-0.9962	0.30974	T	0.018	0.07282	T	9	0.10392064	0.19132	T	0.006913	0.18289	T	0.022	0.04323	0.413	0.45052	0.351830644314	0.34792	0.22179318258328798	0.22094	0.0490856577026	0.05365	0.276432394981	0.07000	T	0.033629	0.35358	T	-0.224817	0.17341	T	-0.560711	0.16311	T	0.222402907190136	0.21583	T	0.0529947	0.31518	T	0.17522849	0.38369	0.14234616	0.33866	0.17522849	0.38369	0.14234616	0.33865	-4.486	0.30705	T	.	.	0.140	0.35140	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	1.919651	0.24382	16.38	0.95641261074264039	0.27441	0.20435	0.21040	N	AEFDBI	0.076996	0.15502	N	-0.588743829248812	0.19285	1.008135	-0.625127312728929	0.18848	1.008715	0.988407442614825	0.31505	0.615465	0.37627	0	0.653731	0.59785	0	0.78367	0.99111	0	0.655142	0.61905	0	.	.	4.27	3.11	0.34883	0.468000	0.21763	1.087000	0.23945	0.654000	0.53741	0.001000	0.13787	0.025000	0.21018	0.245000	0.23132	0.0:0.1123:0.0:0.8877	6.377	0.20715	933	0.16026	.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	572.83	33	chr18	35264312	.	T	A	572.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.742;DP=235;ExcessHet=0;FS=3.737;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=9.71;ReadPosRankSum=0.401;SOR=1.275	GT:AD:DP:GQ:PL	0/1:35,24:59:99:583,0,836	5	0	1	0
chr18	48950310	48950310	C	T	exonic	SMAD7	.	nonsynonymous SNV	SMAD7:NM_001190821:exon1:c.G115A:p.G39R,SMAD7:NM_005904:exon1:c.G115A:p.G39R	.	352	1162	8	0	0	8	0.00343053	.	.	.	727740	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.262	.	0.0033	0.00219649	0.0033	0	0.0102	0	0	0.0078	0	0.0017	0.0018176	281	154602	rs144204026	0.0091	0.0087	0.0092	0.0089	0.0107	0.0089	0.0089	0.0105	0.0104	0.0017	0.0065	0.0033	2.956e-05	0.0024	0.0071	0.0107	0.0079	0.0015	0.0069	0.0069	0.0072	0.0065	0.0113	0.0065	0.0064	0.0107	0.0104	0.0019	0.0385	0.0071	0.0032	0	0.0015	0.0138	0.0113	0.0061	0.0017	0.381	0.11156	T	0.737	0.05221	T	0.736	0.42845	P	0.221	0.37837	B	0.033892	0.24840	N	0.199276	0.999221	0.46379	D	0.6	0.15550	N	-0.89	0.74793	T	0.05	0.06369	N	0.162	0.19593	-0.7276	0.59084	T	0.159	0.49195	T	10	0.006189704	0.00139	T	.	.	.	0.262	0.57482	0.223	0.14665	0.778636828197	0.77660	0.2835460402726191	0.28267	2.05838413245	0.94392	0.923187971115	0.98557	D	0.507525	0.82522	D	-0.33135	0.06010	T	-0.23835	0.50960	T	0.0210421096382977	0.00805	T	0.729327	0.34443	T	0.13354963	0.31058	0.12657623	0.30482	0.13354963	0.31058	0.12657623	0.30481	-4.228	0.27412	T	.	.	0.216	0.44592	B	.;.	.;.	2.973784	0.39645	21.0	0.85506414441976486	0.15935	0.59097	0.30821	D	AEFDBHCI	0.493352	0.52960	N	-0.111355608488586	0.36898	2.139092	-0.0868018227623789	0.35934	2.084994	0.999999999638852	0.74766	0.652421	0.48094	0	0.484254	0.07192	0	0.64067	0.45733	0	0.492483	0.08430	1	.	.	3.5	3.5	0.39181	2.630000	0.46160	3.826000	0.39973	0.493000	0.22426	0.996000	0.39380	1.000000	0.68203	0.058000	0.15825	0.0:1.0:0.0:0.0	14.077	0.64422	940	0.13648	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.006904	0.000000	0.011475	0.006211	0.000000	0.000000	0.006944	0.008475	0.08333	429.83	35	chr18	48950310	.	C	T	429.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.745;DP=241;ExcessHet=0;FS=1.09;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=8.27;ReadPosRankSum=1.33;SOR=0.634	GT:AD:DP:GQ:PL	0/1:31,21:52:99:440,0,683	5	0	1	0
chr18	70020730	70020730	C	A	exonic	RTTN	.	nonsynonymous SNV	RTTN:NM_001318520:exon44:c.G3302T:p.C1101F,RTTN:NM_173630:exon45:c.G6038T:p.C2013F	Microcephaly, short stature, and polymicrogyria with seizures, Autosomal recessive	9	1472	39	2	0	43	0.0143957	.	.	.	135637	RTTN-related_disorder|not_provided|not_specified	.|MedGen:C3661900|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.171	.	0.0061	0.00419329	0.0071	0.0015	0.0046	0	0.0008	0.0085	0.0033	0.0128	0.0068563	1060	154602	rs145976466	0.0079	0.0079	0.0078	0.0081	0.0206	0.0078	0.0078	0.0176	0.0165	0.0017	0.0047	0.0046	5.039e-05	0.0019	0.0206	0.0085	0.0067	0.0129	0.0054	0.0054	0.0053	0.0054	0.0084	0.0051	0.0050	0.0078	0.0076	0.0012	0.0197	0.0077	0.0037	0	0.0009	0.0034	0.0084	0.0043	0.0070	0.03	0.45393	D	0.032	0.53426	D	0.989	0.62824	D	0.689	0.53736	P	0.027691	0.25717	N	0.454682	0.544657	0.32083	D	1.95	0.52479	M	0.66	0.52416	T	-1.77	0.41809	N	0.369	0.41063	-0.6193	0.64018	T	0.136	0.45068	T	10	0.005443305	0.00120	T	.	.	.	0.171	0.43483	.	.	0.510230903827	0.50662	0.30996790440081773	0.30909	0.167520044428	0.18895	0.308870136738	0.11737	T	0.139244	0.47317	T	-0.365889	0.03808	T	-0.287319	0.46051	T	0.00781058271793566	0.00092	T	0.835416	0.52437	T	0.12677795	0.29686	0.09754753	0.23223	0.10329817	0.24415	0.11255301	0.27158	-2.083	0.03512	T	0.5437217846477904	0.61307	0.209	0.43640	B	.;.;.	.;.;.	2.770700	0.36367	20.2	0.98568032777208736	0.43063	0.58772	0.30732	D	AEFGBI	0.235831	0.35837	N	0.419131343728332	0.62475	4.463965	0.404103181547507	0.61821	4.387615	0.999810614893077	0.43459	0.719381	0.83141	0	0.723133	0.82719	0	0.709663	0.75317	0	0.683762	0.67416	0	.	.	6.07	6.07	0.98675	1.717000	0.37612	4.040000	0.41416	0.599000	0.40250	0.174000	0.23986	0.999000	0.35428	0.555000	0.30293	0.0:0.8541:0.0:0.1459	10.571	0.44388	981	0.03995	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.013595	0.010101	0.013587	0.032164	0.000000	0.000000	0.000000	0.011364	0.1667	2140.06	94	chr18	70020730	.	C	A	2140.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-0.075;DP=316;ExcessHet=0.4139;FS=5.609;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=12.97;ReadPosRankSum=1.87;SOR=0.406	GT:AD:DP:GQ:PL	0/1:29,42:71:99:1008,0,621	4	0	2	0
chr18	79411164	79411164	G	A	exonic	NFATC1	.	nonsynonymous SNV	NFATC1:NM_001278669:exon2:c.G889A:p.D297N,NFATC1:NM_001278670:exon2:c.G889A:p.D297N,NFATC1:NM_001278672:exon2:c.G850A:p.D284N,NFATC1:NM_001278675:exon2:c.G850A:p.D284N,NFATC1:NM_006162:exon2:c.G889A:p.D297N,NFATC1:NM_172387:exon2:c.G850A:p.D284N,NFATC1:NM_172389:exon2:c.G850A:p.D284N,NFATC1:NM_172390:exon2:c.G889A:p.D297N	.	423	1092	7	0	0	7	0.00319489	.	.	.	727817	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.369	.	0.0006	0.00259585	0.0009	0.0001	0.0008	0.0049	0	0.0007	0.0024	0.0004	0.0008021	124	154602	rs76525142	0.0010	0.0010	0.0010	0.0010	0.0184	0.0010	0.0009	0.0173	0.0168	0.0001	0.0009	0.0004	0.0184	3.864e-05	0.0064	0.0005	0.0011	0.0004	0.0007	0.0007	0.0008	0.0006	0.0083	0.0006	0.0005	0.0064	0.0057	9.621e-05	0	0.0003	0.0006	0.0083	0	0	0.0006	0.0005	0.0012	0.05	0.41637	D	0.085	0.69154	T	0.985	0.61118	D	0.647	0.52336	P	0.000635	0.42799	D	0.262361	0.999981	0.81001	D	2.6	0.76081	M	-1.21	0.78645	T	-2.45	0.56630	N	0.405	0.46835	-0.1092	0.79886	T	0.366	0.72620	T	10	0.010182321	0.00228	T	.	.	.	0.369	0.68844	.	.	0.781335839245	0.77931	0.3314206422243107	0.33055	0.690193461659	0.60522	0.597861468792	0.52602	T	0.113465	0.85550	T	-0.321469	0.06779	T	-0.234552	0.51328	T	0.0697725894504532	0.08619	T	0.962304	0.88413	D	0.11334826	0.26770	0.12698059	0.30574	0.11334826	0.26770	0.12698059	0.30573	-13.719	0.92744	D	.	.	0.164	0.42022	B	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	5.122557	0.85684	28.7	0.99859950430616551	0.93820	0.99463	0.96341	D	AEFDBI	0.869276	0.78973	D	0.590775566515301	0.72599	5.831061	0.539892484194243	0.70698	5.543439	0.99999999999988	0.74766	0.700653	0.57754	0	0.702456	0.74545	0	0.717052	0.78885	0	0.635551	0.53088	0	.	.	4.96	4.96	0.65153	9.605000	0.97771	11.698000	0.94457	0.593000	0.32247	1.000000	0.71638	1.000000	0.68203	0.980000	0.58198	0.0:0.0:1.0:0.0	18.396	0.90443	.	.	.;.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.005544	0.005102	0.000000	0.011696	0.000000	0.000000	0.015244	0.007576	0.08333	1684.83	59	chr18	79411164	.	G	A	1684.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.325;DP=432;ExcessHet=0;FS=0.654;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.96;ReadPosRankSum=0.492;SOR=0.617	GT:AD:DP:GQ:PL	0/1:63,67:130:99:1695,0,1519	5	0	1	0
chr19	1109420	1109420	G	A	exonic	SBNO2	.	nonsynonymous SNV	SBNO2:NM_001100122:exon26:c.C3049T:p.R1017C,SBNO2:NM_014963:exon29:c.C3220T:p.R1074C	.	431	1081	8	1	1	11	0.00460405	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.296	0.0783148442791	.	.	0.0012	0	0.0016	0	0	0.0002	0.0057	0.0025	0.0002005	31	154602	rs775972341	0.0002	0.0002	0.0001	0.0004	0.0033	0.0002	0.0002	0.0023	0.0022	0.0002	5.406e-05	0	0	2.071e-05	0.0033	7.631e-05	0.0004	0.0026	0.0001	0.0001	8.994e-05	0.0001	0.0023	6.507e-05	5.319e-05	0.0013	0.0010	2.405e-05	0	6.533e-05	0	0	0	0	4.411e-05	0	0.0023	0.009	0.57480	D	0.041	0.50514	D	1.0	0.90584	D	0.912	0.72692	D	0.001593	0.38554	N	0.191768	0.999894	0.50595	D	2.94	0.84723	M	.	.	.	-5.19	0.83625	D	0.876	0.90251	-0.1749	0.78308	T	0.420	0.76583	T	9	0.44979727	0.58626	T	0.078315	0.72975	D	0.296	0.61616	0.808	0.92512	0.38225645794	0.37833	0.8383123977345767	0.83791	1.29012888317	0.82767	0.624952733517	0.56430	T	0.454623	0.79410	T	-0.186372	0.22792	T	-0.0444774	0.67398	D	0.171562344448835	0.18686	T	.	.	.	0.1378821	0.31910	0.18632546	0.41798	0.1378821	0.31910	0.18632546	0.41797	-8.795	0.66368	D	.	.	0.574	0.67789	P	.;.;.	.;.;.	4.338824	0.66545	25.0	0.99800878890138678	0.88550	0.77256	0.37965	D	AEFDBHCI	0.369364	0.45612	N	0.254234883506748	0.53848	3.552101	0.0515057502599371	0.42146	2.544077	0.999999988795181	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.643519	0.47002	0	0.711	0.71501	0	.	.	4.71	2.58	0.30011	4.593000	0.60743	7.201000	0.57798	0.590000	0.31872	1.000000	0.71638	1.000000	0.68203	0.018000	0.11154	0.1784:0.0:0.8216:0.0	9.181	0.36302	970	0.06235	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	841.83	42	chr19	1109420	.	G	A	841.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.955;DP=289;ExcessHet=0;FS=1.842;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.66;ReadPosRankSum=-0.054;SOR=0.923	GT:AD:DP:GQ:PL	0/1:44,35:79:99:852,0,1067	5	0	1	0
chr19	1487681	1487681	G	A	exonic	PCSK4	.	nonsynonymous SNV	PCSK4:NM_017573:exon6:c.C604T:p.R202C	.	417	1103	1	1	0	3	0.00135808	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.728	0.426736920972	7.9e-05	.	0.0001	0	0	0	0	0.0002	0	0	1.29e-05	2	154602	rs146775660	1.712e-05	2.052e-05	1.409e-05	2.023e-05	3.135e-05	1.158e-05	9.73e-06	1.35e-06	9.8e-07	3.135e-05	0	0.0006	0	0	0	4.623e-06	3.438e-05	1.256e-05	2.628e-05	2.627e-05	2.569e-05	2.689e-05	0.0002	8.14e-06	5.14e-06	.	.	2.412e-05	0	0	0.0006	0	0	0	0	0	0.0002	0.0	0.91255	D	0.001	0.83351	D	1.0	0.90584	D	0.996	0.84481	D	0.209586	0.16398	U	0.469632	0.999996	0.58761	D	3.7	0.94612	H	-2.35	0.88066	D	-7.31	0.94511	D	0.959	0.96871	0.876	0.95359	D	0.848	0.94943	D	10	0.94398916	0.93723	D	0.426737	0.93902	D	0.728	0.90457	.	.	0.875011096909	0.87379	0.7403572531336196	0.73980	0.871681035601	0.69423	0.705338895321	0.67917	T	0.682612	0.90695	D	0.212452	0.75060	D	0.0782149	0.75458	D	0.989263117313385	0.79511	D	0.972103	0.89869	D	0.78514683	0.82971	0.6486553	0.79449	0.78514683	0.82973	0.6486553	0.79450	-12.046	0.85074	D	.	.	0.513	0.65158	A	.	.	6.111958	0.94587	34	0.99905662908807114	0.97651	0.89625	0.50209	D	AEFBI	0.802996	0.72826	D	0.632391579965624	0.75235	6.270078	0.461971118722644	0.65488	4.830301	0.174942045813336	0.17791	0.646311	0.45356	0	0.588066	0.40923	0	0.645312	0.48771	0	0.567892	0.33627	0	.	.	2.4	2.4	0.28568	7.377000	0.78939	11.575000	0.93308	0.511000	0.23309	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:1.0:0.0	12.420	0.54849	970	0.06235	Peptidase S8/S53 domain|Kexin/furin catalytic domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1009.83	34	chr19	1487681	.	G	A	1009.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.06;DP=252;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.43;ReadPosRankSum=-0.126;SOR=0.693	GT:AD:DP:GQ:PL	0/1:28,42:70:99:1020,0,558	5	0	1	0
chr19	2733014	2733014	C	A	exonic	SLC39A3	.	nonsynonymous SNV	SLC39A3:NM_144564:exon3:c.G682T:p.D228Y	.	410	1110	2	0	0	2	0.00090009	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.111	0.0146639603769	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.595e-06	8.896e-06	2.744e-06	1.251e-05	9.379e-05	4.08e-06	2.98e-06	4.623e-05	3.404e-05	0	0	0	0	0	0	0	5.029e-05	9.379e-05	1.97e-05	1.969e-05	0	4.029e-05	0.0006	5.24e-06	2.45e-06	0.0002	8.992e-05	0	0	0	0	0	0	0	0	0	0.0006	0.107	0.29823	T	0.056	0.46632	T	0.603	0.39389	P	0.157	0.38752	B	0.002367	0.36688	N	0.284641	0.995716	0.42821	D	1.305	0.32671	L	0.84	0.47477	T	-0.74	0.20791	N	0.637	0.64989	-1.1016	0.03903	T	0.077	0.30676	T	10	0.4118432	0.56277	T	0.014664	0.34921	T	0.111	0.31313	0.543	0.65589	0.535102873643	0.53161	0.8003521281054337	0.79989	0.7458566091	0.63515	0.505363881588	0.39575	T	0.037006	0.24316	T	-0.0959403	0.37096	T	-0.375588	0.36237	T	0.587521553039551	0.35909	D	0.839416	0.51368	T	0.2165478	0.44116	0.12767637	0.30731	0.2165478	0.44116	0.12767637	0.30730	-3.81	0.20954	T	.	.	0.214	0.44240	B	.;.	.;.	3.457311	0.48168	22.6	0.98831253265683094	0.46952	0.88804	0.48910	D	AEFDBI	0.261560	0.37948	N	-0.225976282291676	0.32071	1.80482	-0.115088164221438	0.34780	2.004618	0.834638941175654	0.24755	0.67177	0.52595	0	0.702456	0.74545	0	0.723109	0.80598	0	0.635551	0.53088	0	.	.	4.66	3.58	0.40133	2.462000	0.44706	5.972000	0.52016	0.594000	0.32500	0.447000	0.26542	1.000000	0.68203	0.964000	0.52637	0.0:0.8366:0.1634:0.0	13.090	0.58578	994	0.00715	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1307.83	40	chr19	2733014	.	C	A	1307.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.733;DP=375;ExcessHet=0;FS=0.822;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.86;ReadPosRankSum=-0.08;SOR=0.534	GT:AD:DP:GQ:PL	0/1:38,50:88:99:1318,0,1015	5	0	1	0
chr19	2877305	2877305	G	A	exonic	ZNF556	.	nonsynonymous SNV	ZNF556:NM_001300843:exon4:c.G344A:p.S115N,ZNF556:NM_024967:exon4:c.G347A:p.S116N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.041	0.00107148895581	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.221	0.18889	T	0.293	0.23365	T	0.0	0.02946	B	0.001	0.04355	B	.	.	.	.	1	0.08975	N	1.305	0.32671	L	3.44	0.05710	T	-1.54	0.37375	N	0.102	0.08506	-0.9312	0.43963	T	0.011	0.04227	T	9	0.07517427	0.11586	T	0.001071	0.01239	T	0.041	0.10877	0.232	0.16005	0.0806252709748	0.07271	0.01920709523356129	0.01874	0.0555063784113	0.06140	0.328834414482	0.14758	T	0.009702	0.08812	T	-0.451437	0.01108	T	-0.886234	0.00604	T	0.0420879870653152	0.04072	T	0.411359	0.11286	T	0.052162364	0.09688	0.07013381	0.14863	0.052162364	0.09688	0.07013381	0.14863	-7.047	0.54376	T	.	.	0.096	0.22024	B	.;.	.;.	0.614269	0.09830	6.591	0.81189837615518301	0.13563	0.00000	0.00017	N	AEFDBHCI	0.041973	0.06451	N	-1.35614377294062	0.03062	0.1361824	-1.4937739025875	0.02394	0.110067	0.00231386374482801	0.09317	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	1.97	-3.95	0.03844	-0.343000	0.07838	-5.026000	0.01881	-0.309000	0.06099	0.000000	0.06391	0.000000	0.08366	0.007000	0.07825	0.4324:0.177:0.2121:0.1785	0.709	0.00862	994	0.00715	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	1073.83	39	chr19	2877305	.	G	A	1073.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.113;DP=263;ExcessHet=0;FS=1.921;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.1;ReadPosRankSum=0.033;SOR=0.968	GT:AD:DP:GQ:PL	0/1:39,43:82:99:1084,0,1031	5	0	1	0
chr19	4891552	4891552	C	T	exonic	ARRDC5	.	nonsynonymous SNV	ARRDC5:NM_001080523:exon3:c.G481A:p.E161K,ARRDC5:NM_001367189:exon4:c.G547A:p.E183K	.	432	1064	24	2	0	28	0.012987	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.017	0.00410282417331	0.0033	0.00239617	0.0039	0.0011	0.0032	0	0.0003	0.0056	0.0060	0.0027	0.0036287	561	154602	rs117229323	0.0046	0.0046	0.0046	0.0046	0.0107	0.0045	0.0045	0.0086	0.0078	0.0010	0.0044	0.0089	0	0.0005	0.0107	0.0050	0.0052	0.0027	0.0037	0.0037	0.0037	0.0037	0.0069	0.0035	0.0034	0.0059	0.0055	0.0010	0	0.0069	0.0052	0	0.0003	0.0340	0.0055	0.0047	0.0015	0.296	0.14694	T	0.0	0.92824	D	0.003	0.11197	B	0.003	0.08700	B	0.005155	0.33053	N	0.139503	0.999958	0.19072	N	2.255	0.64187	M	2.12	0.19726	T	-1.55	0.37566	N	0.099	0.08088	-1.0063	0.28065	T	0.019	0.08033	T	10	0.004798323	0.00102	T	0.004103	0.09806	T	0.017	0.02790	.	.	0.0297737177859	0.01360	0.30261166566913883	0.30174	0.141106849071	0.15915	0.377224206924	0.21861	T	0.034748	0.23446	T	-0.5912	0.00165	T	-0.618687	0.11289	T	0.00692169043717743	0.00078	T	0.626737	0.24270	T	0.052711822	0.09870	0.05264129	0.08714	0.052711822	0.09870	0.05264129	0.08714	-4.812	0.34731	T	.	.	0.070	0.03588	B	.	.	1.423129	0.18399	13.72	0.9374996075781642	0.23690	0.02154	0.06332	N	AEFGBI	0.046700	0.07783	N	-1.13271059564567	0.06069	0.2784059	-1.13582331712859	0.07025	0.340216	0.0685876650961028	0.15462	0.594549	0.33734	0	0.486142	0.07564	0	0.563428	0.18855	0	0.613276	0.41899	0	.	.	4.92	0.412	0.15614	-0.170000	0.09886	-0.527000	0.08657	-0.202000	0.08738	0.001000	0.13787	0.000000	0.08366	0.007000	0.07825	0.0:0.483:0.1589:0.3581	4.368	0.10668	940	0.13648	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.009615	0.010101	0.008152	0.015060	0.000000	0.017241	0.009146	0.011364	0.08333	1112.83	36	chr19	4891552	.	C	T	1112.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.718;DP=255;ExcessHet=0;FS=0.877;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.91;ReadPosRankSum=-0.5;SOR=0.566	GT:AD:DP:GQ:PL	0/1:35,45:80:99:1123,0,849	5	0	1	0
chr19	6427473	6427473	C	T	exonic	SLC25A41	.	nonsynonymous SNV	SLC25A41:NM_173637:exon5:c.G653A:p.R218Q,SLC25A41:NM_001321298:exon6:c.G239A:p.R80Q	.	420	1093	9	0	0	9	0.00410023	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.154	0.0320289930778	7.7e-05	0.00119808	0.0010	0	0.0024	0	0	0.0008	0.0047	0.0022	0.0005433	84	154602	rs370967882	0.0004	0.0004	0.0003	0.0005	0.0084	0.0004	0.0004	0.0065	0.0058	0.0002	0.0006	0.0027	0.0001	0	0.0084	0.0003	0.0008	0.0010	0.0004	0.0004	0.0003	0.0004	0.0017	0.0003	0.0003	0.0008	0.0006	9.621e-05	0	0.0009	0.0020	0	0	0	0.0003	0.0014	0.0017	0.065	0.36310	T	0.01	0.65728	D	0.581	0.38837	P	0.094	0.30180	B	.	.	.	.	1	0.81001	D	0.61	0.15665	N	-1.16	0.78082	T	-1.84	0.43149	N	0.121	0.11197	-0.8827	0.49545	T	0.208	0.56771	T	9	0.0052732825	0.00115	T	0.032029	0.53962	D	0.154	0.40340	.	.	0.329282125956	0.32538	0.21025020509890177	0.20941	0.0426198176388	0.04596	0.257188558578	0.04561	T	0.055096	0.29909	T	-0.433726	0.01408	T	-0.446235	0.28112	T	0.0350473004095516	0.02815	T	0.889011	0.61998	D	0.079493165	0.18164	0.074608445	0.16339	0.079493165	0.18163	0.074608445	0.16339	-4.404	0.29612	T	.	.	0.075	0.05317	B	.	.	1.307874	0.17108	12.96	0.99471717513587254	0.66365	0.05453	0.11331	N	AEFBI	0.115421	0.22695	N	-0.659157792231801	0.17193	0.8826803	-0.730294490387425	0.16208	0.8563167	0.0271245656806612	0.13754	0.615465	0.37627	0	0.633656	0.55848	0	0.577349	0.28860	0	0.542086	0.14980	0	.	.	4.07	1.82	0.24209	1.316000	0.33226	-0.740000	0.07623	0.599000	0.40250	0.157000	0.23755	0.000000	0.08366	0.046000	0.14843	0.1761:0.6309:0.0:0.1931	4.945	0.13336	806	0.43582	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.011156	0.000000	0.016304	0.014706	0.000000	0.017241	0.003106	0.003788	0.08333	874.83	38	chr19	6427473	.	C	T	874.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.95;DP=274;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.17;ReadPosRankSum=-1.776;SOR=0.714	GT:AD:DP:GQ:PL	0/1:51,35:86:99:885,0,1245	5	0	1	0
chr19	6686267	6686267	G	A	exonic	C3	.	nonsynonymous SNV	C3:NM_000064:exon29:c.C3667T:p.P1223S	C3 deficiency, Autosomal recessive	1	1519	2	0	0	2	0.000657895	.	.	.	1972889	not_provided|Inborn_genetic_diseases	MedGen:C3661900|MeSH:D030342,MedGen:C0950123	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.022	0.019077051668	.	.	8.237e-06	0	0	0	0	1.498e-05	0	0	6.5e-06	1	154602	rs771497419	8.893e-06	8.893e-06	8.168e-06	9.626e-06	0.0002	4.96e-06	3.82e-06	5.75e-06	4.55e-06	0	0	0	0	0	0.0002	1.079e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.026	0.46910	D	0.097	0.39190	T	0.084	0.24799	B	0.03	0.21741	B	0.003977	0.34270	N	0.309092	0.999998	0.08975	N	1.565	0.39561	L	1.52	0.30669	T	-4.22	0.75854	D	0.108	0.09349	-1.0627	0.11093	T	0.061	0.25635	T	10	0.09711033	0.17466	T	0.019077	0.41344	T	0.022	0.04323	0.358	0.36060	0.546400721484	0.54296	0.2807098819538663	0.27983	0.614059306348	0.55946	0.253475129604	0.04143	T	0.335741	0.70532	T	-0.167748	0.25576	T	-0.478735	0.24581	T	0.16635850071907	0.18329	T	0.616038	0.23564	T	0.27846977	0.50901	0.34977898	0.60598	0.27846977	0.50901	0.34977898	0.60597	-5.197	0.38911	T	0.22458159435292704	0.30331	0.088	0.11510	B	.	.	2.093202	0.26629	17.18	0.97732656172489618	0.35628	0.22811	0.21871	N	AEFBHCI	0.452594	0.50608	N	-0.380279633710221	0.26172	1.426388	-0.32616485511408	0.27255	1.511172	0.328979153946802	0.19465	0.615465	0.37627	0	0.480063	0.06835	0	0.658983	0.55881	0	0.564101	0.26826	0	.	.	5.85	2.21	0.27042	1.057000	0.30102	3.029000	0.36034	0.676000	0.76740	0.045000	0.21207	0.275000	0.24072	0.759000	0.36109	0.0739:0.1234:0.5733:0.2294	5.310	0.15133	911	0.21964	Alpha-macroglobulin complement component	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	581.83	42	chr19	6686267	.	G	A	581.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.609;DP=217;ExcessHet=0;FS=1.101;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.41;ReadPosRankSum=-0.519;SOR=0.479	GT:AD:DP:GQ:PL	0/1:25,26:51:99:592,0,609	5	0	1	0
chr19	6755168	6755168	C	T	exonic	SH2D3A	.	nonsynonymous SNV	SH2D3A:NM_005490:exon5:c.G644A:p.R215Q	.	431	1079	12	0	0	12	0.00552995	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.114	0.0130555189363	0.0006	0.000199681	0.0006	0	0.0003	0.0001	0	0.0009	0.0023	0.0006	0.0004657	72	154602	rs139813452	0.0006	0.0006	0.0006	0.0007	0.0058	0.0006	0.0006	0.0042	0.0037	0.0003	0.0002	0.0117	0	0	0.0058	0.0004	0.0015	0.0008	0.0004	0.0004	0.0004	0.0003	0.0004	0.0003	0.0003	0.0002	0.0001	7.235e-05	0	0.0003	0.0075	0	0	0	0.0003	0.0005	0.0004	0.151	0.24564	T	0.0	0.92824	D	1.0	0.90584	D	0.95	0.68788	D	0.003790	0.34487	N	0.000000	0.622903	0.33738	D	2.515	0.73286	M	1.32	0.35219	T	-1.17	0.32387	N	0.238	0.29081	-0.5966	0.64955	T	0.200	0.55625	T	10	0.007838309	0.00178	T	0.013056	0.32163	T	0.114	0.32008	.	.	0.697679765967	0.69506	0.4191840507844904	0.41834	0.948468269422	0.72514	0.386554598808	0.23182	T	0.081848	0.36692	T	-0.307122	0.08005	T	-0.319252	0.42656	T	0.554415106773376	0.34643	D	0.829317	0.49436	T	0.104006454	0.24584	0.064677715	0.12999	0.104006454	0.24584	0.064677715	0.12998	-9.529	0.71039	D	.	.	0.102	0.17785	B	.;.	.;.	3.860392	0.55978	23.7	0.99897786711129255	0.97048	0.97645	0.76123	D	AEFDBHI	0.584879	0.58353	D	0.460673285849471	0.64810	4.744259	0.388358732190324	0.60845	4.276993	0.999999999322786	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.643519	0.47002	0	0.567892	0.33627	0	.	.	4.53	4.53	0.55009	3.683000	0.54396	1.666000	0.27927	0.524000	0.24156	1.000000	0.71638	0.998000	0.33993	0.432000	0.27494	0.0:1.0:0.0:0.0	14.758	0.69208	946	0.12043	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.006042	0.005051	0.006793	0.011696	0.000000	0.008621	0.003049	0.000000	0.08333	952.83	36	chr19	6755168	.	C	T	952.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.97;DP=260;ExcessHet=0;FS=2.046;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.22;ReadPosRankSum=1.73;SOR=0.442	GT:AD:DP:GQ:PL	0/1:33,34:67:99:963,0,758	5	0	1	0
chr19	8888087	8888087	A	G	exonic	MUC16	.	nonsynonymous SNV	MUC16:NM_024690:exon58:c.T40820C:p.I13607T	.	417	1041	64	0	0	64	0.0298229	0.0001	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.040	.	8.4e-05	.	1.843e-05	0.0002	0	0	0	0	0	0	6.5e-06	1	154602	rs375722672	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	0.0002	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	1.0	0.00964	T	1.0	0.01155	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	4.62	0.01834	T	1.51	0.00728	N	0.064	0.03613	-1.0221	0.23031	T	0.007	0.02244	T	7	0.046363264	0.03818	T	0.003776	0.08775	T	0.053	0.14996	.	.	0.0806252709748	0.07271	0.08113719990746966	0.08048	.	.	0.292725682259	0.09321	T	.	.	.	-0.410319	0.01978	T	-0.827171	0.01313	T	0.0205199335667818	0.00752	T	0.121488	0.00940	T	.	.	.	.	.	.	.	.	0.215	0.00281	T	.	.	0.092	0.13503	B	.	.	0.530896	0.08997	5.778	0.92029181334311316	0.21368	0.00015	0.00188	N	AEFBI	0.020964	0.00883	N	-0.812734170393172	0.12984	0.636566	-1.13990611673498	0.06950	0.3363392	1.26604863044529E-5	0.02871	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.949	-0.566	0.11178	-0.613000	0.05705	.	.	-0.251000	0.07141	0.002000	0.15269	0.000000	0.08366	0.069000	0.16583	0.5985:0.0:0.4015:0.0	4.301	0.10367	952	0.10565	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	53.0	80	chr19	8888087	.	A	G	53.0	.	AC=2;AF=0.5;AN=4;BaseQRankSum=3.51;DP=398;ExcessHet=0.4139;FS=5.149;MLEAC=2;MLEAF=0.5;MQ=59.61;MQRankSum=0;QD=0.46;ReadPosRankSum=-0.121;SOR=1.592	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:55,4:59:2:0|1:8888087_A_G:2,0,2297:8888087	0	0	2	4
chr19	8888826	8888826	T	0	exonic	MUC16	.	.	.	.	415	770	176	0	161	337	0.102564	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4167	30.01	327	chr19	8888826	.	T	*	30.01	.	AC=5;AF=0.417;AN=12;BaseQRankSum=2.99;DP=1785;ExcessHet=11.5949;FS=9.468;MLEAC=5;MLEAF=0.417;MQ=57.66;MQRankSum=-5.836;QD=0.02;ReadPosRankSum=1.12;SOR=1.363	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:204,53:286:99:0|1:8888826_T_*:1611,0,8406:8888826	1	0	5	0
chr19	8900017	8900017	C	G	exonic	MUC16	.	nonsynonymous SNV	MUC16:NM_024690:exon38:c.G38968C:p.D12990H	.	419	985	117	1	0	119	0.0569651	.	.	.	3206446	MUC16-related_disorder	.	no_assertion_criteria_provided	Likely_benign	.	.	.	.	.	.	.	.	0.059	0.000862686160426	.	.	.	.	.	.	.	.	.	.	.	.	.	rs796074138	0	8.209e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	5.687e-05	0.0074	4.13e-05	7.351e-05	7.994e-05	2.742e-05	2.063e-05	2.119e-05	1.087e-05	7.994e-05	0	0	0	0	0.0003	0	3.068e-05	0	0	0.039	0.42487	D	0.066	0.44501	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	4.62	0.01834	T	0.49	0.02993	N	0.092	0.07125	-0.9370	0.43088	T	0.005	0.01506	T	8	0.0807575	0.13143	T	8.63E-4	0.00755	T	0.059	0.16972	0.123	0.02942	0.0401082797425	0.02173	0.1591635644427814	0.15837	.	.	0.225260436535	0.01636	T	.	.	.	-0.333606	0.05843	T	-0.716979	0.04943	T	0.120735882775226	0.14502	T	0.155884	0.01367	T	.	.	.	.	.	.	.	.	-5.876	0.45230	T	.	.	0.121	0.25199	B	.	.	-0.654509	0.01430	0.085	0.20142462625377641	0.00711	0.00266	0.01451	N	AEFBI	0.033829	0.04085	N	-1.20853826975404	0.04874	0.2209404	-1.39093098480509	0.03348	0.1559778	2.77626904626202E-5	0.03498	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.16	-2.32	0.06360	-4.258000	0.00301	.	.	-2.147000	0.00375	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.3314:0.4146:0.254:0.0	2.997	0.05636	940	0.13648	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.1667	210.06	206	chr19	8900017	.	C	G	210.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-0.128;DP=536;ExcessHet=0.4139;FS=0;MLEAC=2;MLEAF=0.167;MQ=59.13;MQRankSum=-12.32;QD=0.54;ReadPosRankSum=1.98;SOR=0.721	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:170,13:183:34:0|1:8900009_C_T:34,0,7099:8900009	4	0	2	0
chr19	8906329	8906329	A	G	exonic	MUC16	.	nonsynonymous SNV	MUC16:NM_024690:exon27:c.T37990C:p.W12664R	.	426	1037	58	1	0	60	0.0281162	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.022	0.00123485330843	.	.	1.69e-05	0.0001	8.66e-05	0	0	0	0	0	3.84e-05	1	26028	rs752664873	1.713e-05	7.251e-05	1.909e-05	1.516e-05	2.52e-05	1.176e-05	9.94e-06	1.379e-05	1.152e-05	0	2.246e-05	0	2.52e-05	0	0	2.071e-05	0	0	9.122e-05	0.0074	9.589e-05	8.632e-05	0.0002	5.38e-05	4.211e-05	6.784e-05	4.563e-05	0.0002	0	0	0	0.0002	0.0001	0	7.725e-05	0	0	1.0	0.00964	T	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.56	0.29602	T	1.73	0.00557	N	0.164	0.17278	-1.0123	0.26196	T	0.021	0.08917	T	8	0.05845517	0.06874	T	0.001235	0.01633	T	0.022	0.04323	0.511	0.60846	0.0666544352282	0.05500	0.12290162140986033	0.12216	.	.	0.17153711617	0.00038	T	.	.	.	-0.364945	0.03858	T	-0.761995	0.03041	T	0.0350373052446737	0.02814	T	0.0657934	0.00479	T	.	.	.	.	.	.	.	.	0.629	0.00188	T	.	.	0.081	0.08417	B	.	.	0.120328	0.05179	1.696	0.50828146212189185	0.04453	0.00012	0.00170	N	AEFBI	0.011720	0.00110	N	-2.20480432650005	0.00075	0.003199722	-2.24327977203405	0.00089	0.003930338	8.9415780060643E-4	0.07974	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	1.48	-2.96	0.05212	-1.082000	0.03510	.	.	-6.395000	0.00004	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.5741:0.0:0.2467:0.1792	4.013	0.09120	934	0.15400	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.25	70.64	123	chr19	8906329	.	A	G	70.64	.	AC=3;AF=0.25;AN=12;BaseQRankSum=-0.926;DP=470;ExcessHet=1.383;FS=11.04;MLEAC=2;MLEAF=0.167;MQ=58.83;MQRankSum=-9.356;QD=0.23;ReadPosRankSum=-2.796;SOR=1.219	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:83,6:89:2:0|1:8906329_A_G:2,0,3467:8906329	3	0	3	0
chr19	8908599	8908599	T	C	exonic	MUC16	.	nonsynonymous SNV	MUC16:NM_024690:exon23:c.A37612G:p.T12538A	.	429	1090	3	0	0	3	0.00137426	0	0.03	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.016	0.00112796486292	.	.	.	.	.	.	.	.	.	.	0.00073	19	26028	rs1292275692	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.331e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.257	0.16738	T	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.69	0.27032	T	-0.45	0.14782	N	0.116	0.10483	-0.9581	0.39534	T	0.019	0.07753	T	7	0.071532875	0.10556	T	0.001128	0.01385	T	0.016	0.02506	0.249	0.18602	0.0297737177859	0.01360	0.08480375160435995	0.08414	.	.	0.244860142469	0.03246	T	.	.	.	-0.374715	0.03362	T	-0.776029	0.02575	T	0.0510332249104977	0.05680	T	0.138886	0.01109	T	.	.	.	.	.	.	.	.	-5.524	0.42092	T	.	.	0.069	0.02993	B	.	.	0.253012	0.06321	2.781	0.42206208933571693	0.03095	0.00009	0.00143	N	AEFBI	0.011238	0.00095	N	-1.58080858776645	0.01363	0.05940262	-1.61877208500018	0.01545	0.07001183	9.87328335879298E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.42	-1.03	0.09586	0.325000	0.19374	.	.	-0.528000	0.04966	0.025000	0.20085	0.000000	0.08366	0.002000	0.04165	0.0:0.7516:0.0:0.2484	4.299	0.10357	934	0.15400	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1667	127.22	142	chr19	8908599	.	T	C	127.22	.	AC=1;AF=0.167;AN=6;BaseQRankSum=1.92;DP=721;ExcessHet=0;FS=46.852;MLEAC=1;MLEAF=0.167;MQ=59.35;MQRankSum=-7.648;QD=1.06;ReadPosRankSum=0.039;SOR=5.721	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:109,11:120:99:0|1:8908590_A_G:134,0,4544:8908590	2	0	1	3
chr19	8908602	8908602	C	T	exonic	MUC16	.	nonsynonymous SNV	MUC16:NM_024690:exon23:c.G37609A:p.A12537T	.	431	1089	2	0	0	2	0.000917431	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025	0.00131490758785	.	.	4.182e-05	0.0001	0	0.0001	0	1.508e-05	0	0.0001	0.0001552	24	154602	rs138748436	4.107e-05	4.104e-05	3.95e-05	4.266e-05	0.0004	3.247e-05	2.921e-05	0.0003	0.0002	0.0004	0	0	0.0001	0	0.0002	3.24e-05	3.316e-05	2.32e-05	0.0001	0.0001	0.0002	5.568e-05	0.0003	7.282e-05	6.004e-05	0.0002	0.0002	0.0003	0	6.974e-05	0	0	0	0	4.448e-05	0	0	0.545	0.06691	T	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.39	0.33842	T	0.37	0.03639	N	0.078	0.05287	-1.0434	0.16294	T	0.040	0.17404	T	8	0.03682396	0.02000	T	0.001315	0.01834	T	0.025	0.05312	.	.	0.0297737177859	0.01360	0.061949370351122544	0.06134	.	.	0.279441058636	0.07415	T	.	.	.	-0.624425	0.00103	T	-0.804718	0.01787	T	0.00817964850258335	0.00098	T	0.242476	0.03503	T	.	.	.	.	.	.	.	.	1.346	0.00095	T	.	.	0.065	0.01834	B	.	.	0.570840	0.09394	6.173	0.33756429216317418	0.02028	0.00011	0.00159	N	AEFBI	0.008518	0.00040	N	-1.36706097997437	0.02952	0.131134	-1.41654224597646	0.03086	0.1432886	1.09906045987142E-5	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.42	1.42	0.21524	0.018000	0.13315	.	.	-0.524000	0.04973	0.001000	0.13787	0.000000	0.08366	0.003000	0.05239	0.0:0.238:0.0:0.762	3.410	0.06930	934	0.15400	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.1667	118.22	142	chr19	8908602	.	C	T	118.22	.	AC=1;AF=0.167;AN=6;BaseQRankSum=2.79;DP=726;ExcessHet=0;FS=47.294;MLEAC=1;MLEAF=0.167;MQ=59.42;MQRankSum=-7.24;QD=0.96;ReadPosRankSum=0.452;SOR=5.78	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:112,11:123:99:0|1:8908590_A_G:125,0,4670:8908590	2	0	1	3
chr19	8908604	8908604	G	T	exonic	MUC16	.	nonsynonymous SNV	MUC16:NM_024690:exon23:c.C37607A:p.P12536H	.	427	1092	3	0	0	3	0.00137174	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.052	0.00113280189862	.	.	.	.	.	.	.	.	.	.	.	.	.	rs893065310	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	6.64e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.009	0.57480	D	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	4.57	0.01917	T	-1.42	0.34992	N	0.247	0.27910	-1.0628	0.11069	T	0.019	0.07846	T	8	0.14153516	0.26892	T	0.001133	0.01385	T	0.052	0.14661	0.277	0.23004	0.132336055621	0.12781	0.14758051324810698	0.14680	.	.	0.238620921969	0.02667	T	.	.	.	-0.253738	0.13642	T	-0.602254	0.12622	T	0.173418819904327	0.18810	T	0.154585	0.01346	T	.	.	.	.	.	.	.	.	-9.732	0.72291	D	.	.	0.113	0.22391	B	.	.	1.099813	0.14844	11.37	0.28530878413675936	0.01469	0.04269	0.09804	N	AEFBI	0.025387	0.01729	N	-0.227180045193329	0.32022	1.801572	-0.531142575380632	0.21310	1.152163	2.41537016268443E-5	0.03498	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.42	1.42	0.21524	1.286000	0.32877	.	.	0.360000	0.20082	0.003000	0.16062	0.008000	0.19753	0.008000	0.08271	0.0:0.0:1.0:0.0	6.239	0.19989	934	0.15400	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1667	121.22	142	chr19	8908604	.	G	T	121.22	.	AC=1;AF=0.167;AN=6;BaseQRankSum=1.05;DP=728;ExcessHet=0;FS=47.174;MLEAC=1;MLEAF=0.167;MQ=59.42;MQRankSum=-7.209;QD=0.99;ReadPosRankSum=0.719;SOR=5.761	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:111,11:122:99:0|1:8908590_A_G:128,0,4628:8908590	2	0	1	3
chr19	8908608	8908608	T	C	exonic	MUC16	.	nonsynonymous SNV	MUC16:NM_024690:exon23:c.A37603G:p.S12535G	.	426	1092	4	0	0	4	0.00182815	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.017	0.00136832620583	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1187553949	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.33e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.323	0.13436	T	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	4.44	0.02139	T	-0.63	0.18459	N	0.212	0.23632	-0.9637	0.38468	T	0.006	0.02093	T	8	0.0662958	0.09070	T	0.001368	0.01986	T	0.017	0.02790	0.197	0.10975	0.0138822411134	0.00435	0.09901883307393754	0.09832	.	.	0.25038677454	0.03808	T	.	.	.	-0.353296	0.04524	T	-0.745261	0.03674	T	0.0603211808221808	0.07220	T	0.141186	0.01138	T	.	.	.	.	.	.	.	.	-9.901	0.73316	D	.	.	0.102	0.18037	B	.	.	1.349386	0.17571	13.24	0.28242686615049478	0.01441	0.00851	0.03397	N	AEFBI	0.024256	0.01472	N	-1.2564370111732	0.04215	0.1898217	-1.37586353734191	0.03511	0.163921	1.07308552085878E-5	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.42	-0.938	0.09882	0.886000	0.27878	.	.	0.353000	0.19991	0.001000	0.13787	0.000000	0.08366	0.004000	0.06068	0.0:0.4508:0.0:0.5492	4.293	0.10335	934	0.15400	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.25	82.7	142	chr19	8908608	.	T	C	82.7	.	AC=2;AF=0.25;AN=8;BaseQRankSum=1.17;DP=723;ExcessHet=0.4139;FS=44.315;MLEAC=1;MLEAF=0.125;MQ=59.41;MQRankSum=-7.528;QD=0.37;ReadPosRankSum=1.08;SOR=5.688	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:110,10:120:89:0|1:8908590_A_G:89,0,4589:8908590	2	0	2	2
chr19	8908619	8908619	A	G	exonic	MUC16	.	nonsynonymous SNV	MUC16:NM_024690:exon23:c.T37592C:p.F12531S	.	425	1082	15	0	0	15	0.00688389	.	.	.	3192351	MUC16-related_disorder	.	no_assertion_criteria_provided	Benign	.	.	.	.	.	.	.	.	0.019	0.00202408868933	8.3e-05	.	8.342e-06	0	0	0	0	1.505e-05	0	0	6.5e-06	1	154602	rs377069963	3.422e-06	3.42e-06	1.362e-06	5.503e-06	3.598e-06	1e-06	7.3e-07	8.4e-07	5.7e-07	0	0	0	0	0	0	3.598e-06	1.658e-05	0	1.352e-05	0.0001	1.315e-05	1.391e-05	2.978e-05	2.25e-06	8.4e-07	4.94e-06	1.85e-06	0	0	0	0	0	0	0	2.978e-05	0	0	0.067	0.35918	T	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	4.61	0.01851	T	-0.17	0.09627	N	0.101	0.08366	-0.8956	0.48427	T	0.002	0.00615	T	8	0.04995814	0.04658	T	0.002024	0.03668	T	0.019	0.03383	.	.	0.146414634003	0.14194	0.14281700225897295	0.14204	.	.	0.216673746705	0.01127	T	.	.	.	-0.366936	0.03752	T	-0.764855	0.02941	T	0.0528477553212313	0.05994	T	0.0760924	0.00560	T	.	.	.	.	.	.	.	.	2.702	0.00027	T	.	.	0.052	0.00225	B	.	.	0.670042	0.10384	7.110	0.39831540764915757	0.02773	0.00011	0.00159	N	AEFBI	0.011428	0.00101	N	-1.71979816171027	0.00774	0.03342962	-1.72525038677741	0.01030	0.04621079	2.48205843339707E-5	0.03498	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.42	-2.46	0.06089	-0.340000	0.07868	.	.	-0.516000	0.04988	0.000000	0.06391	0.000000	0.08366	0.009000	0.08673	0.6127:0.0:0.3873:0.0	5.188	0.14517	934	0.15400	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.3333	186.99	173	chr19	8908619	.	A	G	186.99	.	AC=2;AF=0.333;AN=6;BaseQRankSum=1.77;DP=783;ExcessHet=0.4139;FS=45.799;MLEAC=3;MLEAF=0.5;MQ=58.14;MQRankSum=-6.014;QD=0.81;ReadPosRankSum=1.98;SOR=4.614	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:112,12:124:99:0|1:8908590_A_G:165,0,4608:8908590	1	0	2	3
chr19	8908637	8908637	C	G	exonic	MUC16	.	nonsynonymous SNV	MUC16:NM_024690:exon23:c.G37574C:p.G12525A	.	425	921	175	1	0	177	0.0876672	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.092	0.00100971464853	.	.	.	.	.	.	.	.	.	.	.	.	.	rs796118737	0	1.984e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	6.704e-06	0.0012	0	1.379e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.069	0.35537	T	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	4.5	0.02032	T	-1.0	0.26422	N	0.149	0.15187	-1.0489	0.14705	T	0.019	0.07893	T	8	0.14229593	0.27028	T	0.00101	0.01096	T	0.092	0.26621	0.068	0.00352	0.0920862733494	0.08535	0.09297556608109382	0.09229	.	.	0.207300364971	0.00702	T	.	.	.	-0.324618	0.06526	T	-0.704068	0.05606	T	0.128357648849487	0.15229	T	0.250075	0.03765	T	.	.	.	.	.	.	.	.	-9.338	0.69846	D	.	.	0.128	0.27222	B	.	.	0.716944	0.10859	7.536	0.51191884600897364	0.04518	0.02560	0.07095	N	AEFBI	0.024210	0.01462	N	-0.258816728321443	0.30752	1.717725	-0.553394696242798	0.20716	1.117387	2.41537016268443E-5	0.03498	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.42	1.42	0.21524	-0.166000	0.09943	.	.	0.321000	0.19380	0.000000	0.06391	0.000000	0.08366	0.016000	0.10718	0.0:1.0:0.0:0.0	6.239	0.19989	934	0.15400	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1667	533.08	146	chr19	8908637	.	C	G	533.08	.	AC=2;AF=0.167;AN=12;BaseQRankSum=1.04;DP=720;ExcessHet=0.4139;FS=11.146;MLEAC=2;MLEAF=0.167;MQ=58.28;MQRankSum=-8.662;QD=2.05;ReadPosRankSum=-0.389;SOR=1.55	GT:AD:DP:GQ:PL	0/1:109,19:128:99:449,0,4499	4	0	2	0
chr19	8908644	8908644	C	G	exonic	MUC16	.	nonsynonymous SNV	MUC16:NM_024690:exon23:c.G37567C:p.D12523H	.	422	906	191	3	0	197	0.0980587	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.015	0.00120507919294	.	.	.	.	.	.	.	.	.	.	.	.	.	rs796881038	6.844e-07	2.805e-05	0	1.376e-06	8.997e-07	0	0	.	.	0	0	0	0	0	0	8.997e-07	0	0	6.682e-06	0.0013	0	1.372e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.555	0.06482	T	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	4.53	0.01980	T	-0.67	0.19297	N	0.127	0.12055	-0.9652	0.38171	T	0.005	0.01833	T	8	0.059954166	0.07290	T	0.001205	0.01558	T	0.015	0.02232	.	.	0.0401082797425	0.02173	0.17377359918076668	0.17297	.	.	0.218874275684	0.01246	T	.	.	.	-0.367293	0.03734	T	-0.765368	0.02923	T	0.0819785980810491	0.10239	T	0.169583	0.01587	T	.	.	.	.	.	.	.	.	-8.635	0.65320	D	.	.	0.155	0.34383	B	.	.	-0.155485	0.03325	0.581	0.2311562001233356	0.00962	0.00236	0.01316	N	AEFBI	0.021935	0.01036	N	-1.22951270346983	0.04577	0.2068566	-1.43744946049098	0.02886	0.1335886	3.83668398290725E-5	0.03775	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.42	-2.84	0.05408	-3.238000	0.00603	.	.	0.321000	0.19380	0.000000	0.06391	0.000000	0.08366	0.012000	0.09680	0.4784:0.3304:0.0:0.1912	2.526	0.04405	934	0.15400	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1667	558.09	146	chr19	8908644	.	C	G	558.09	.	AC=2;AF=0.167;AN=12;BaseQRankSum=1.34;DP=750;ExcessHet=0.4139;FS=1.985;MLEAC=2;MLEAF=0.167;MQ=57.95;MQRankSum=-7.932;QD=2.15;ReadPosRankSum=1.41;SOR=0.936	GT:AD:DP:GQ:PL	0/1:108,18:127:99:431,0,4400	4	0	2	0
chr19	12112308	12112308	G	A	exonic	ZNF788P	.	nonsynonymous SNV	ZNF788P:NM_001348164:exon2:c.G761A:p.C254Y,ZNF788P:NM_001348165:exon3:c.G761A:p.C254Y,ZNF788P:NM_001348163:exon4:c.G761A:p.C254Y	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.279	0.00201343541003	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.684e-06	6.361e-06	0	1.702e-05	0.0004	2.58e-06	7.2e-07	5.53e-06	2.07e-06	0	0	0	0	0	0.0004	0	0	3.331e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1552.83	38	chr19	12112308	.	G	A	1552.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.602;DP=303;ExcessHet=0;FS=3.477;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.86;ReadPosRankSum=-0.041;SOR=0.947	GT:AD:DP:GQ:PL	0/1:54,58:112:99:1563,0,1364	5	0	1	0
chr19	13918779	13918779	C	T	exonic	CC2D1A	.	nonsynonymous SNV	CC2D1A:NM_017721:exon9:c.C980T:p.S327L	Mental retardation, autosomal recessive 3, Autosomal recessive	3	1438	77	4	0	85	0.0287065	.	.	YES	134073	not_provided|Inborn_genetic_diseases|not_specified|CC2D1A-related_disorder|Intellectual_disability,_autosomal_recessive_3	MedGen:C3661900|MeSH:D030342,MedGen:C0950123|MedGen:CN169374|.|MONDO:MONDO:0012037,MedGen:C1838023,OMIM:608443,Orphanet:88616	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.052	.	0.0055	0.00539137	0.0094	0.0013	0.0074	0.0006	0.0015	0.0109	0.0116	0.0176	0.0089908	1390	154602	rs200121704	0.0088	0.0088	0.0084	0.0093	0.0180	0.0087	0.0086	0.0166	0.0163	0.0011	0.0074	0.0222	0.0001	0.0022	0.0180	0.0087	0.0091	0.0173	0.0069	0.0069	0.0067	0.0071	0.0139	0.0066	0.0064	0.0112	0.0102	0.0016	0.0175	0.0104	0.0196	0	0.0019	0.0204	0.0093	0.0085	0.0139	0.331	0.13088	T	0.625	0.07316	T	0.0	0.02946	B	0.0	0.01387	B	0.810813	0.09252	N	0.915333	1	0.08975	N	-1.39	0.00611	N	1.21	0.37230	T	-0.62	0.18248	N	0.072	0.04547	-1.0167	0.24787	T	0.027	0.11618	T	10	0.004861355	0.00104	T	.	.	.	0.052	0.14661	.	.	0.19670166235	0.19296	0.11669279904069872	0.11597	0.186972255489	0.21008	0.30116713047	0.10575	T	0.039772	0.25304	T	-0.653363	0.00069	T	-0.697661	0.05954	T	0.0041007881650206	0.00044	T	0.284172	0.05010	T	0.024865195	0.01361	0.022541357	0.00277	0.022227304	0.00870	0.023826808	0.00396	-4.605	0.32234	T	.	.	0.065	0.01810	B	.;.	.;.	0.654653	0.10228	6.968	0.85560260078759576	0.15969	0.03524	0.08710	N	AEFBI	0.041663	0.06363	N	-1.08191448286278	0.06976	0.3227283	-1.04708614803974	0.08767	0.4327007	7.93846808118909E-5	0.04552	0.718356	0.82227	0	0.577304	0.33150	0	0.570548	0.19454	0	0.635551	0.53088	0	.	.	5.05	1.51	0.22094	-0.177000	0.09789	-0.366000	0.09640	-0.180000	0.10397	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.6775:0.0:0.3225	6.921	0.23569	934	0.15400	.;.	STX10	Artery_Tibial	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.012085	0.000000	0.012228	0.005848	0.000000	0.008621	0.015244	0.015152	0.08333	580.83	39	chr19	13918779	.	C	T	580.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.376;DP=220;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.89;ReadPosRankSum=0.807;SOR=0.553	GT:AD:DP:GQ:PL	0/1:17,22:39:99:591,0,410	5	0	1	0
chr19	15652903	15652903	C	A	exonic	CYP4F3	.	nonsynonymous SNV	CYP4F3:NM_001369696:exon8:c.C1066A:p.Q356K,CYP4F3:NM_000896:exon9:c.C1066A:p.Q356K,CYP4F3:NM_001199208:exon9:c.C1066A:p.Q356K,CYP4F3:NM_001199209:exon9:c.C1066A:p.Q356K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.067	0.00979601664045	.	.	.	.	.	.	.	.	.	.	.	.	.	rs777021261	6.843e-07	1.368e-06	1.362e-06	0	.	0	0	.	.	0	0	0	0	0	0	0	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.145	0.25154	T	0.218	0.26066	T	0.001	0.07471	B	0.032	0.22131	B	0.326548	0.14184	U	0.619387	0.851153	0.28494	N	1.8	0.47472	L	-0.31	0.68030	T	-2.56	0.55339	D	0.212	0.23632	-0.8906	0.48881	T	0.176	0.51990	T	10	0.27669242	0.45233	T	0.009796	0.25563	T	0.067	0.19503	0.511	0.60846	0.671601973818	0.66882	0.27835149590478353	0.27748	0.0427411458927	0.04614	0.299213290215	0.10284	T	0.013703	0.11803	T	-0.112066	0.34428	T	-0.398751	0.33530	T	0.118696548044682	0.14302	T	0.788521	0.42806	T	0.3974182	0.60553	0.22787549	0.47812	0.3974182	0.60554	0.22787549	0.47811	-7.267	0.56728	T	.	.	0.072	0.04764	B	.;.;.;.	.;.;.;.	2.080083	0.26459	17.12	0.94672275369296444	0.25297	0.15599	0.18990	N	AEFDGBCI	0.375573	0.46005	N	-0.647669658895883	0.17528	0.9027323	-0.604161774518451	0.19386	1.039855	0.00347020439825426	0.10129	0.638212	0.43195	0	0.670034	0.63936	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	3.85	1.41	0.21461	-0.295000	0.08335	.	.	0.549000	0.26987	0.003000	0.16062	0.068000	0.22166	0.343000	0.25501	0.4283:0.3919:0.1797:0.0	5.685	0.17069	940	0.13648	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	2139.83	71	chr19	15652903	.	C	A	2139.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.653;DP=598;ExcessHet=0;FS=1.701;MLEAC=1;MLEAF=0.083;MQ=59.81;MQRankSum=-2.184;QD=10.44;ReadPosRankSum=-1.546;SOR=0.577	GT:AD:DP:GQ:PL	0/1:111,94:205:99:2150,0,2860	5	0	1	0
chr19	17286458	17286458	G	A	exonic	ANKLE1	.	nonsynonymous SNV	ANKLE1:NM_001278444:exon8:c.G1537A:p.A513T,ANKLE1:NM_001278443:exon9:c.G1643A:p.R548H,ANKLE1:NM_001278445:exon9:c.G1634A:p.R545H,ANKLE1:NM_152363:exon9:c.G1754A:p.R585H	.	.	.	.	.	.	.	.	.	.	.	2204288	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.107	0.017292828929	.	.	.	.	.	.	.	.	.	.	.	.	.	rs761566717	8.22e-06	8.893e-06	9.54e-06	6.886e-06	5.974e-05	4.38e-06	3.46e-06	9.89e-06	4.57e-06	5.974e-05	4.481e-05	0	0	0	0	3.599e-06	1.658e-05	3.487e-05	3.942e-05	3.94e-05	2.57e-05	5.379e-05	0.0002	1.715e-05	1.129e-05	1.918e-05	1.032e-05	7.235e-05	0	0	0	0	0	0	2.94e-05	0	0.0002	.	.	.	0.134	0.34241	T	.	.	.	.	.	.	0.006450	0.32025	N	0.305630	0.551371	0.81001	D	.	.	.	.	.	.	.	.	.	0.164	0.29429	-0.2184	0.77193	T	0.408	0.75706	T	10	0.24126422	0.41301	T	0.017293	0.38928	T	0.261	0.57352	.	.	0.479056812784	0.47537	0.28460258157871304	0.28373	0.719982598912	0.62158	0.566581487656	0.48195	T	.	.	.	-0.0475657	0.44818	T	-0.223236	0.52423	T	0.951850295066833	0.63654	D	0.864214	0.56114	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.106	0.19760	B	.;.	.;.	5.168871	0.86628	29.0	0.99954334554824342	0.99963	0.89786	0.50478	D	AEFDGBI	0.250428	0.37048	N	0.566366763725946	0.71084	5.598	0.57412097816838	0.73091	5.913953	0.967492108602789	0.28981	0.615465	0.37627	0	0.653731	0.59785	0	0.658983	0.55881	0	0.567892	0.33627	0	.	.	5.42	5.42	0.78666	5.413000	0.66140	5.694000	0.49349	0.614000	0.49286	1.000000	0.71638	1.000000	0.68203	0.826000	0.38927	0.0:0.0:0.8235:0.1764	11.737	0.51036	846	0.36215	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1262.83	44	chr19	17286458	.	G	A	1262.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.761;DP=285;ExcessHet=0;FS=4.823;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.03;ReadPosRankSum=1.56;SOR=0.505	GT:AD:DP:GQ:PL	0/1:51,54:105:99:1273,0,1276	5	0	1	0
chr19	17286692	17286692	T	0	exonic	ANKLE1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	739.81	42	chr19	17286692	.	T	*	739.81	.	AC=6;AF=0.5;AN=12;BaseQRankSum=0.798;DP=247;ExcessHet=0.1336;FS=3.403;MLEAC=6;MLEAF=0.5;MQ=59.92;MQRankSum=0;QD=5.73;ReadPosRankSum=1.57;SOR=0.382	GT:AD:DP:GQ:PL	0/1:13,10:26:99:592,0,755	1	1	4	0
chr19	18059998	18059998	C	T	exonic	IL12RB1	.	nonsynonymous SNV	IL12RB1:NM_001290023:exon16:c.G1879A:p.E627K,IL12RB1:NM_005535:exon16:c.G1879A:p.E627K,IL12RB1:NM_001290024:exon17:c.G1999A:p.E667K	Immunodeficiency 30, Autosomal recessive	0	1506	16	0	0	16	0.00528402	.	.	YES	349560	Mendelian_susceptibility_to_mycobacterial_diseases_due_to_complete_IL12RB1_deficiency|IL12RB1-related_disorder|not_provided	MONDO:MONDO:0013955,MedGen:C4013949,OMIM:614891,Orphanet:319552|.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.194	0.0502997711593	0.0003	0.000798722	0.0016	0.0002	0.0007	0	0.0008	0.0015	0.0034	0.0042	0.0008797	136	154602	rs143367415	0.0006	0.0006	0.0005	0.0007	0.0026	0.0006	0.0006	0.0022	0.0021	3.016e-05	0.0001	0.0008	2.53e-05	0.0007	0.0026	0.0005	0.0006	0.0025	0.0005	0.0005	0.0004	0.0005	0.0031	0.0004	0.0003	0.0019	0.0015	0	0	6.541e-05	0	0	9.411e-05	0.0034	0.0007	0.0005	0.0031	.	.	.	0.022	0.57587	D	0.886	0.48745	P	0.206	0.37138	B	0.243444	0.15662	N	0.556492	1	0.08975	N	0.83	0.20963	L	-1.69	0.82985	D	.	.	.	0.068	0.04072	-0.7239	0.59269	T	0.336	0.70289	T	10	0.005658984	0.00126	T	0.050	0.64185	D	.	.	.	.	0.837196984627	0.83564	0.11495638176315126	0.11423	0.0998762674502	0.11279	0.269627898932	0.06092	T	0.221584	0.58519	T	-0.422628	0.01646	T	-0.384468	0.35199	T	0.0331579474704862	0.02498	T	0.455954	0.13062	T	0.045579966	0.07485	0.049427263	0.07550	0.042662505	0.06510	0.038296826	0.03668	-4.54	0.31408	T	.	.	0.073	0.04806	B	.;.	.;.	0.730864	0.11002	7.660	0.98659263288509513	0.44303	0.02380	0.06763	N	AEFDGBI	0.048807	0.08368	N	-0.707493968953395	0.15810	0.8001046	-0.829217321851856	0.13788	0.7171667	0.0255451232259495	0.13655	0.651	0.46895	0	0.708844	0.79440	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	3.52	1.35	0.21078	-0.075000	0.11392	-1.364000	0.05615	-1.895000	0.00529	0.000000	0.06391	0.000000	0.08366	0.010000	0.09038	0.0:0.6617:0.2178:0.1205	4.940	0.13314	964	0.07719	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.003525	0.000000	0.001359	0.008772	0.000000	0.000000	0.006098	0.007576	0.08333	1159.83	39	chr19	18059998	.	C	T	1159.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.818;DP=266;ExcessHet=0;FS=0.847;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.32;ReadPosRankSum=-0.761;SOR=0.634	GT:AD:DP:GQ:PL	0/1:34,47:81:99:1170,0,722	5	0	1	0
chr19	19320877	19320888	GGCAGCGGCCCA	-	exonic	MAU2	.	nonframeshift deletion	MAU2:NM_015329:exon1:c.18_29del:p.Q10_A13del	.	417	1099	5	1	0	7	0.0031746	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0151	0.000599042	0.0076	0.0011	0.0180	0	0.0027	0.0092	0.0093	0.0070	0.0001153	3	26028	rs550594758	0.0038	0.0036	0.0039	0.0037	0.0052	0.0037	0.0037	0.0045	0.0043	0.0007	0.0052	0.0002	5.804e-05	8.823e-05	0.0020	0.0043	0.0032	0.0030	0.0025	0.0025	0.0026	0.0024	0.0039	0.0023	0.0022	0.0035	0.0033	0.0010	0	0.0035	0	0	0	0	0.0039	0.0033	0.0027	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	506.79	33	chr19	19320876	.	CGGCAGCGGCCCA	C	506.79	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.29;DP=169;ExcessHet=0;FS=3.251;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=16.35;ReadPosRankSum=-0.097;SOR=1.278	GT:AD:DP:GQ:PL	0/1:17,14:31:99:517,0,662	5	0	1	0
chr19	19544848	19544848	C	G	exonic	CILP2	.	nonsynonymous SNV	CILP2:NM_153221:exon8:c.C2303G:p.A768G	.	415	1074	33	0	0	33	0.0151307	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.026	.	0.0013	0.00279553	0.0042	0.0008	0.0029	0.0001	0.0002	0.0028	0.0054	0.0154	0.0032212	498	154602	rs183579609	0.0025	0.0025	0.0020	0.0031	0.0231	0.0025	0.0024	0.0199	0.0187	0.0009	0.0017	0.0043	5.048e-05	0.0004	0.0231	0.0016	0.0031	0.0156	0.0020	0.0020	0.0018	0.0023	0.0161	0.0018	0.0018	0.0133	0.0122	0.0009	0	0.0015	0.0063	0	9.409e-05	0.0102	0.0020	0.0028	0.0161	0.281	0.15458	T	0.365	0.16766	T	0.67	0.41173	P	0.138	0.33406	B	0.004102	0.34102	N	0.294180	0.973073	0.25567	N	0	0.06538	N	2.92	0.09915	T	-1.73	0.41046	N	0.178	0.20660	-1.0066	0.27973	T	0.012	0.04416	T	10	0.006175101	0.00139	T	.	.	.	0.026	0.05648	.	.	0.221734844693	0.21761	0.48943640471560984	0.48863	0.540324238068	0.51227	0.587623178959	0.51159	T	0.059749	0.31200	T	-0.638053	0.00086	T	-0.676322	0.07210	T	0.00500560574170787	0.00054	T	0.763824	0.39073	T	0.12832758	0.30005	0.07520777	0.16535	0.12832758	0.30005	0.07520777	0.16534	-3.199	0.12468	T	.	.	0.110	0.21239	B	.;.	.;.	2.135784	0.27195	17.38	0.98322670361795883	0.40261	0.14627	0.18502	N	AEFBI	0.097155	0.19600	N	-0.415863986299695	0.24913	1.348598	-0.422221171552598	0.24347	1.332705	0.0472752000595685	0.14724	0.646311	0.45356	0	0.547309	0.14657	0	0.645312	0.48771	0	0.613276	0.41899	0	.	.	4.89	2.7	0.31007	1.369000	0.33832	.	.	0.524000	0.24156	0.011000	0.18532	0.640000	0.25910	0.920000	0.45560	0.0:0.6119:0.1984:0.1897	4.381	0.10728	432	0.80690	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.014113	0.005155	0.012262	0.035088	0.000000	0.017241	0.003049	0.022727	0.08333	951.83	36	chr19	19544848	.	C	G	951.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.23;DP=265;ExcessHet=0;FS=1.832;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.75;ReadPosRankSum=0.768;SOR=0.984	GT:AD:DP:GQ:PL	0/1:44,37:81:99:962,0,1076	5	0	1	0
chr19	19546009	19546009	G	A	exonic	CILP2	.	nonsynonymous SNV	CILP2:NM_153221:exon8:c.G3464A:p.R1155Q	.	.	.	.	.	.	.	.	.	.	.	4120941	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.017	0.0162089660237	.	.	4.951e-05	0	0	0	0	4.623e-05	0	0.0003	1.29e-05	2	154602	rs746840643	2.031e-05	2.394e-05	1.762e-05	2.314e-05	0.0002	1.391e-05	1.192e-05	0.0001	9.375e-05	0	0	0	0.0002	0	0	1.333e-05	0	5.92e-05	1.314e-05	1.313e-05	2.57e-05	0	6.544e-05	2.18e-06	8.2e-07	.	.	0	0	6.544e-05	0	0	0	0	0	0.0005	0	0.217	0.19157	T	0.835	0.03663	T	0.006	0.13644	B	0.001	0.04355	B	0.158109	0.17750	N	0.536654	0.999958	0.19072	N	0.515	0.13537	N	0.63	0.53088	T	-1.04	0.27259	N	0.076	0.05037	-1.0626	0.11118	T	0.056	0.23639	T	10	0.04168898	0.02847	T	0.016209	0.37354	T	0.017	0.02790	0.24	0.17218	0.363944505237	0.36005	0.2603403048460849	0.25948	0.414632045757	0.42137	0.477432101965	0.35703	T	0.031378	0.22016	T	-0.458004	0.01011	T	-0.602181	0.12629	T	0.0122962221503258	0.00199	T	0.560744	0.19617	T	0.044597402	0.07156	0.04413037	0.05648	0.044597402	0.07156	0.04413037	0.05648	-4.264	0.27669	T	.	.	0.069	0.03093	B	.;.	.;.	0.801897	0.11727	8.304	0.94149247972649064	0.24346	0.02707	0.07358	N	AEFDBI	0.046933	0.07849	N	-1.16232842632114	0.05580	0.2547392	-1.1367958248366	0.07007	0.3392831	0.0183506854037963	0.13047	0.695654	0.57023	0	0.588066	0.40923	0	0.723109	0.80598	0	0.604944	0.38103	0	.	.	5.16	0.464	0.15918	-0.362000	0.07655	.	.	-0.272000	0.06708	0.000000	0.06391	0.000000	0.08366	0.783000	0.37026	0.2846:0.1596:0.5558:0.0	4.568	0.11593	432	0.80690	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	1391.83	36	chr19	19546009	.	G	A	1391.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.656;DP=308;ExcessHet=0;FS=4.735;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.54;ReadPosRankSum=0.201;SOR=0.379	GT:AD:DP:GQ:PL	0/1:51,60:111:99:1402,0,1154	5	0	1	0
chr19	19563561	19563561	C	T	exonic	PBX4	.	nonsynonymous SNV	PBX4:NM_025245:exon7:c.G980A:p.R327Q	.	421	1045	53	3	0	59	0.0274546	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.158	.	0.0020	0.00519169	0.0146	0.0017	0.0205	0	0.025	0.0063	0.0215	0.0265	0.002859	442	154602	rs141765874	0.0033	0.0033	0.0026	0.0041	0.0238	0.0032	0.0032	0.0228	0.0224	0.0009	0.0023	0.0074	5.548e-05	0.0004	0.0238	0.0019	0.0045	0.0237	0.0027	0.0027	0.0023	0.0032	0.0259	0.0025	0.0024	0.0222	0.0208	0.0006	0	0.0030	0.0089	0.0002	9.425e-05	0.0272	0.0025	0.0052	0.0259	1.0	0.00964	T	1.0	0.01155	T	0.001	0.07471	B	0.001	0.04355	B	0.029183	0.25490	N	0.374285	0.99985	0.20048	N	-0.835	0.01514	N	-2.43	0.88689	D	0.55	0.02721	N	0.054	0.02559	-0.7570	0.57567	T	0.162	0.49698	T	10	0.00417009	0.00083	T	.	.	.	0.158	0.41098	.	.	0.652033478655	0.64913	0.22012128260220112	0.21928	0.172531800969	0.19429	0.427890986204	0.28921	T	0.015137	0.12752	T	-0.542268	0.00325	T	-0.533453	0.18944	T	0.000349907009447481	0.00003	T	0.428457	0.11587	T	0.017614858	0.00288	0.026358206	0.00721	0.017614858	0.00287	0.026358206	0.00720	-2.182	0.03954	T	.	.	0.064	0.01762	B	.	.	-0.526882	0.01783	0.137	0.20598641616943153	0.00748	0.02920	0.07728	N	AEFDBI	0.025959	0.01868	N	-1.48482500715598	0.01957	0.0859137	-1.39234968934554	0.03333	0.1552553	0.00453885202476798	0.10604	0.696267	0.57585	0	0.577304	0.33150	0	0.691665	0.62940	0	0.613276	0.41899	0	.	.	3.23	-0.5	0.11412	0.432000	0.21180	.	.	-0.927000	0.02165	0.933000	0.32380	0.026000	0.21063	0.011000	0.09372	0.0:0.3662:0.0:0.6338	6.545	0.21597	434	0.80536	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.020697	0.011111	0.014837	0.049689	0.000000	0.019608	0.006667	0.028226	0.08333	648.83	34	chr19	19563561	.	C	T	648.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.175;DP=224;ExcessHet=0;FS=1.102;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.48;ReadPosRankSum=-0.467;SOR=0.467	GT:AD:DP:GQ:PL	0/1:21,31:52:99:659,0,502	5	0	1	0
chr19	21405835	21405835	A	G	exonic	ZNF493	.	nonsynonymous SNV	ZNF493:NM_001076678:exon3:c.A232G:p.S78G,ZNF493:NM_145326:exon3:c.A235G:p.S79G	.	497	1020	5	0	0	5	0.00244499	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	0.00101507814385	0.0005	0.000199681	0.0006	0	0	0.0006	0	0.0008	0	0.0005	0.0005627	87	154602	rs139629271	0.0008	0.0008	0.0008	0.0009	0.0008	0.0008	0.0008	0.0008	0.0008	0	0.0001	0.0049	0.0003	0.0002	0.0005	0.0008	0.0010	0.0005	0.0006	0.0006	0.0006	0.0006	0.0012	0.0005	0.0005	0.0007	0.0006	4.864e-05	0	0.0003	0.0040	0.0012	0	0	0.0009	0.0010	0.0004	0.316	0.41915	T	0.103	0.49663	T	0.001	0.07471	B	0.001	0.04355	B	.	.	.	.	1	0.08975	N	.	.	.	5.58	0.06445	T	-1.67	0.45042	N	0.132	0.14480	-0.9462	0.41615	T	0.008	0.02679	T	9	0.0076075494	0.00173	T	0.001015	0.01096	T	0.014	0.01968	.	.	0.0401082797425	0.02173	0.006762927482861741	0.00643	0.0172856146283	0.01676	0.355219602585	0.18688	T	.	.	.	-0.59519	0.00156	T	-0.730815	0.04291	T	0.00637228007168246	0.00071	T	0.259974	0.22664	T	.	.	.	.	.	.	.	.	0.927	0.00313	T	.	.	0.068	0.02960	B	.;.;.;.	.;.;.;.	0.512869	0.08815	5.595	0.64011227280780336	0.07377	0.00475	0.02270	N	AEFBI	0.026325	0.01955	N	-1.67893687762194	0.00919	0.03979802	-1.75961023268129	0.00897	0.04013182	2.38803004849035E-5	0.03498	0.615465	0.37627	0	0.653731	0.59785	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	1.13	-2.27	0.06458	-1.769000	0.01890	.	.	0.384000	0.20435	0.000000	0.06391	0.000000	0.08366	0.042000	0.14466	0.4509:0.3099:0.2392:0.0	2.256	0.03808	988	0.01987	Krueppel-associated box;.;Krueppel-associated box;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	332.83	43	chr19	21405835	.	A	G	332.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.419;DP=294;ExcessHet=0;FS=1.206;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=7.4;ReadPosRankSum=0.166;SOR=0.893	GT:AD:DP:GQ:PL	0/1:29,16:45:99:343,0,710	5	0	1	0
chr19	22758281	22758281	C	A	exonic	ZNF99	.	nonsynonymous SNV	ZNF99:NM_001080409:exon4:c.G1628T:p.G543V	.	435	1081	6	0	0	6	0.00276753	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.082	0.00207987466933	.	0.00159744	0.0011	0.0001	0.0003	0.0001	0	0.0001	0.0022	0.0070	0.000912	141	154602	rs553302869	0.0005	0.0005	0.0003	0.0007	0.0070	0.0005	0.0005	0.0066	0.0064	2.999e-05	0.0001	0	2.537e-05	1.876e-05	0.0044	6.763e-05	0.0007	0.0070	0.0002	0.0002	0.0001	0.0003	0.0050	0.0001	0.0001	0.0034	0.0029	0	0	0	0	0.0004	0	0	7.358e-05	0	0.0050	0.0	0.91255	D	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	0.99998	0.54805	D	3.32	0.90714	M	4.83	0.01493	T	-8.26	0.96915	D	0.233	0.31478	-1.1351	0.01553	T	0.022	0.09559	T	9	0.0081532	0.00185	T	0.00208	0.03828	T	0.082	0.23913	.	.	0.165133752707	0.16062	0.01136654299084229	0.01096	0.126169370151	0.14220	0.28276348114	0.07881	T	0.279856	0.65255	T	-0.529613	0.00386	T	-0.529943	0.19292	T	0.177378983733454	0.19068	T	0.0136111	0.00570	T	0.07586543	0.17121	0.15553485	0.36453	0.07586543	0.17121	0.15553485	0.36453	-9.509	0.70915	D	.	.	0.659	0.71290	P	.;.	.;.	1.680886	0.21424	15.19	0.98559915324653502	0.42961	0.06676	0.12695	N	AEFBI	0.095074	0.19215	N	-0.217451247973914	0.32416	1.828005	-0.567882460091762	0.20332	1.095	1.56114472654688E-5	0.02871	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.29	-0.0721	0.13074	0.264000	0.18264	.	.	0.303000	0.18983	0.001000	0.13787	0.000000	0.08366	0.065000	0.16320	0.0:0.7372:0.2628:0.0	7.811	0.28393	988	0.01987	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001064	0.000000	0.001359	0.000000	0.000000	0.000000	0.003106	0.000000	0.08333	643.83	35	chr19	22758281	.	C	A	643.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-3.615;DP=321;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=58.52;MQRankSum=1.14;QD=10.73;ReadPosRankSum=0.321;SOR=0.726	GT:AD:DP:GQ:PL	0/1:34,26:60:99:654,0,1026	5	0	1	0
chr19	35527867	35527867	G	A	exonic	SBSN	.	nonsynonymous SNV	SBSN:NM_001166034:exon1:c.C415T:p.H139Y	.	424	1080	17	1	0	19	0.0087196	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.076	.	.	0.00199681	0.0009	0	8.637e-05	0	0	5.996e-05	0.0011	0.0063	0.0008021	124	154602	rs200153005	0.0005	0.0005	0.0002	0.0007	0.0067	0.0004	0.0004	0.0063	0.0061	0	0.0002	3.826e-05	0	0	0.0019	1.978e-05	0.0006	0.0067	0.0003	0.0003	0.0003	0.0004	0.0087	0.0003	0.0002	0.0066	0.0059	4.817e-05	0	0.0001	0.0003	0.0002	0	0	2.94e-05	0.0009	0.0087	0.049	0.39820	D	0.138	0.33780	T	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	1.525	0.38595	L	0.91	0.44856	T	-1.8	0.42384	N	0.422	0.46180	-1.0156	0.25143	T	0.103	0.37844	T	9	0.007532388	0.00171	T	.	.	.	0.076	0.22200	0.382	0.39970	0.447213685739	0.44343	0.030110697358850545	0.02960	0.998181422514	0.74318	0.46839851141	0.34460	T	0.003867	0.03272	T	-0.512556	0.00485	T	-0.50572	0.21757	T	0.0571665815178973	0.06715	T	0.455954	0.13062	T	0.0696542	0.15277	0.11283258	0.27227	0.0696542	0.15277	0.11283258	0.27226	-8.022	0.61220	D	.	.	0.271	0.50518	B	.	.	2.673778	0.34861	19.74	0.99308528184499745	0.58906	0.48877	0.28306	N	AEFDBI	0.134244	0.25418	N	-0.0800715292223179	0.38267	2.238635	-0.180054913390997	0.32270	1.83431	0.0274848590910693	0.13776	0.497415	0.19182	0	0.563428	0.19063	0	0.563428	0.18855	0	0.542086	0.14980	0	.	.	2.75	1.58	0.22557	0.743000	0.25899	2.109000	0.30648	0.658000	0.54486	0.112000	0.23030	0.325000	0.24344	0.398000	0.26737	0.0:0.0:0.5347:0.4653	6.442	0.21058	835	0.38313	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001511	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.003788	0.08333	2898.83	41	chr19	35527867	.	G	A	2898.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.208;DP=430;ExcessHet=0;FS=6.368;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.83;ReadPosRankSum=-0.048;SOR=0.89	GT:AD:DP:GQ:PL	0/1:112,114:226:99:2909,0,2992	5	0	1	0
chr19	35767177	35767177	G	A	exonic	PROSER3	.	nonsynonymous SNV	PROSER3:NM_001367856:exon9:c.G1063A:p.V355M	.	450	1070	2	0	0	2	0.000933707	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.17e-05	8	154602	rs752827340	0.0002	0.0001	0.0002	0.0002	0.0030	0.0002	0.0001	0.0012	0.0008	0.0011	0.0007	0	0	0	0.0030	0.0001	0.0006	4.066e-05	0.0002	0.0002	0.0002	0.0002	0.0010	0.0002	0.0002	0.0007	0.0005	0.0002	0	0.0010	0	0	0	0.0034	0.0001	0.0009	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	310.83	32	chr19	35767177	.	G	A	310.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.208;DP=115;ExcessHet=0;FS=2.808;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=20.72;ReadPosRankSum=-0.737;SOR=0.223	GT:AD:DP:GQ:PL	0/1:5,10:15:99:321,0,123	5	0	1	0
chr19	38410938	38410938	C	T	exonic	RASGRP4	.	nonsynonymous SNV	RASGRP4:NM_001146206:exon13:c.G1346A:p.R449H,RASGRP4:NM_001146207:exon14:c.G1622A:p.R541H,RASGRP4:NM_001146203:exon15:c.G1637A:p.R546H,RASGRP4:NM_001146202:exon16:c.G1871A:p.R624H,RASGRP4:NM_001146204:exon16:c.G1706A:p.R569H,RASGRP4:NM_001146205:exon16:c.G1811A:p.R604H,RASGRP4:NM_170604:exon16:c.G1913A:p.R638H	.	430	1085	7	0	0	7	0.00321543	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.243	.	0.0061	0.0183706	0.0170	0.0013	0.0105	0.1166	0.0034	0.0106	0.0108	0.0068	0.0097347	1505	154602	rs117355762	0.0092	0.0092	0.0094	0.0090	0.0721	0.0091	0.0090	0.0699	0.0690	0.0013	0.0068	0.0009	0.0721	0.0021	0.0050	0.0080	0.0125	0.0043	0.0086	0.0086	0.0083	0.0089	0.0803	0.0082	0.0080	0.0739	0.0714	0.0021	0	0.0108	0.0009	0.0803	0.0018	0.0034	0.0082	0.0095	0.0062	0.107	0.30235	T	0.055	0.49390	T	0.003	0.11197	B	0.002	0.06944	B	0.006313	0.01119	N	3.422580	1	0.08975	N	0.11	0.08516	N	-0.73	0.77719	T	-1.95	0.45222	N	0.155	0.22998	-0.9492	0.41109	T	0.021	0.09009	T	10	0.0014972389	0.00017	T	.	.	.	0.243	0.54921	.	.	.	.	0.2999865209114673	0.29911	0.348401072875	0.36710	0.198486149311	0.00414	T	0.024153	0.18307	T	-0.535956	0.00354	T	-0.480108	0.24434	T	0.0157937189292481	0.00368	T	0.825817	0.48860	T	0.06640329	0.14284	0.046340745	0.06438	0.06640329	0.14284	0.046340745	0.06438	-3.207	0.14629	T	.	.	0.073	0.06990	B	.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.	1.432299	0.18510	13.77	0.96550231822411814	0.30222	0.05640	0.11551	N	AEFBCI	0.133969	0.25382	N	-0.895464487222504	0.10950	0.5258662	-0.900162381250356	0.12090	0.6199015	0.996832537197091	0.35047	0.660377	0.49826	0	0.694456	0.67091	0	0.696353	0.63694	0	0.613276	0.41899	0	.	.	5.79	-3.22	0.04808	-0.507000	0.06434	-0.364000	0.09654	0.545000	0.25583	0.001000	0.13787	0.000000	0.08366	0.996000	0.76049	0.1151:0.3934:0.0:0.4915	6.668	0.22243	602	0.67834	.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.005035	0.010101	0.001359	0.002924	0.000000	0.000000	0.012195	0.003788	0.08333	847.83	34	chr19	38410938	.	C	T	847.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.142;DP=237;ExcessHet=0;FS=3.895;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.67;ReadPosRankSum=-0.042;SOR=0.317	GT:AD:DP:GQ:PL	0/1:30,32:62:99:858,0,850	5	0	1	0
chr19	38930489	38930489	G	A	exonic	SARS2	.	nonsynonymous SNV	SARS2:NM_001145901:exon1:c.C248T:p.S83L,SARS2:NM_017827:exon1:c.C248T:p.S83L	Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis, Autosomal recessive	0	1451	68	3	0	74	0.0248656	.	.	.	142664	Hyperuricemia,_pulmonary_hypertension,_renal_failure,_alkalosis_syndrome|not_specified|not_provided	MONDO:MONDO:0013458,MedGen:C3151209,OMIM:613845,Orphanet:363694|MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.096	.	0.0064	0.0091853	0.0100	0.0020	0.0067	0.0001	0.0046	0.0090	0.0153	0.0273	0.0093725	1449	154602	rs34050897	0.0096	0.0096	0.0091	0.0102	0.0259	0.0095	0.0095	0.0250	0.0246	0.0020	0.0069	0.0027	0.0001	0.0044	0.0141	0.0094	0.0097	0.0259	0.0066	0.0066	0.0066	0.0066	0.0259	0.0063	0.0061	0.0222	0.0208	0.0018	0	0.0059	0.0026	0.0004	0.0030	0.0136	0.0095	0.0099	0.0259	0.327	0.13262	T	0.312	0.19660	T	0.077	0.24313	B	0.004	0.10090	B	0.014799	0.28429	N	0.367956	.	.	.	0.345	0.11182	N	0.49	0.55775	T	-1.17	0.31375	N	0.179	0.29544	-0.7507	0.57899	T	0.096	0.36263	T	9	0.003596574	0.00065	T	.	.	.	0.096	0.27654	.	.	0.701561391093	0.69897	0.2950527999363668	0.29418	0.273909488683	0.29889	0.44043302536	0.30635	T	0.072744	0.34529	T	-0.482439	0.00716	T	-0.44617	0.28119	T	0.0226525112198306	0.00983	T	.	.	.	0.10467068	0.24745	0.14380763	0.34163	0.10447656	0.24699	0.14380763	0.34162	-4.243	0.31805	T	.	.	0.085	0.12750	B	.;.;.	.;.;.	2.975981	0.39681	21.0	0.9621310437656867	0.29063	0.26748	0.23082	N	ALL	0.164522	0.29092	N	-0.237899072677068	0.31589	1.77281	-0.233137074387494	0.30356	1.708518	1.0	0.98316	0.468429	0.09910	2	0.504199	0.08210	0	0.504199	0.09095	0	0.241949	0.04745	2	.	.	5.51	5.51	0.81769	2.031000	0.40737	11.638000	0.93763	0.676000	0.76740	0.048000	0.21332	1.000000	0.68203	0.010000	0.09038	0.0:0.0:1.0:0.0	14.793	0.69479	680	0.59965	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.010617	0.015152	0.004087	0.000000	0.000000	0.000000	0.030488	0.018939	0.08333	704.83	33	chr19	38930489	.	G	A	704.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.51;DP=214;ExcessHet=0;FS=1.457;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=18.55;ReadPosRankSum=-0.424;SOR=0.446	GT:AD:DP:GQ:PL	0/1:14,24:38:99:715,0,359	5	0	1	0
chr19	39734391	39734391	G	C	exonic	CLC	.	nonsynonymous SNV	CLC:NM_001828:exon3:c.C195G:p.N65K	.	432	1068	22	0	0	22	0.0101946	.	.	.	1226484	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.172	.	0.0048	0.0175719	0.0156	0.0016	0.0858	0.0001	0.0212	0.0082	0.0198	0.0108	0.0149545	2312	154602	rs146776010	0.0092	0.0092	0.0095	0.0089	0.0770	0.0091	0.0091	0.0749	0.0740	0.0014	0.0770	0.0080	0.0003	0.0197	0.0064	0.0064	0.0098	0.0114	0.0099	0.0099	0.0089	0.0109	0.0393	0.0095	0.0093	0.0367	0.0357	0.0017	0	0.0393	0.0069	0.0006	0.0275	0	0.0066	0.0104	0.0102	0.015	0.52492	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	.	.	.	.	1	0.08975	N	3.525	0.93020	H	2.08	0.20255	T	-5.65	0.86988	D	0.274	0.31027	-1.0830	0.06776	T	0.049	0.20829	T	9	0.013160795	0.00280	T	.	.	.	0.172	0.43662	0.944	0.99279	.	.	0.7935249587468006	0.79305	0.572193134915	0.53323	0.513832569122	0.40758	T	0.242098	0.61076	T	-0.442899	0.01243	T	-0.350619	0.39134	T	0.117375244126459	0.14170	T	0.774523	0.40643	T	0.8447447	0.86950	0.6914708	0.81843	0.8447447	0.86952	0.6914708	0.81844	-9.506	0.70896	D	.	.	0.793	0.76947	P	.	.	2.256304	0.28829	17.92	0.98271926166454837	0.39768	0.18700	0.20367	N	AEFBI	0.057236	0.10646	N	0.0414603438479702	0.43750	2.661897	-0.295433822146976	0.28248	1.573534	2.66176801233615E-5	0.03498	0.615465	0.37627	0	0.588066	0.40923	0	0.658983	0.55881	0	0.542086	0.14980	0	.	.	1.3	1.3	0.20778	1.593000	0.36297	.	.	0.367000	0.20222	0.660000	0.28260	0.083000	0.22416	0.007000	0.07825	0.0:0.0:1.0:0.0	5.870	0.18043	862	0.33134	Galectin, carbohydrate recognition domain|Galectin, carbohydrate recognition domain|Galectin, carbohydrate recognition domain|Galectin, carbohydrate recognition domain|Galectin, carbohydrate recognition domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.007049	0.000000	0.004076	0.005848	0.000000	0.000000	0.009146	0.022727	0.08333	1587.83	47	chr19	39734391	.	G	C	1587.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.891;DP=412;ExcessHet=0;FS=5.008;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.03;ReadPosRankSum=0.144;SOR=0.739	GT:AD:DP:GQ:PL	0/1:78,66:144:99:1598,0,1909	5	0	1	0
chr19	39785830	39785830	G	A	exonic	LEUTX	.	nonsynonymous SNV	LEUTX:NM_001143832:exon3:c.G202A:p.A68T,LEUTX:NM_001382345:exon3:c.G292A:p.A98T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.160	0.00835715253016	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.429e-06	1.368e-06	1.41e-06	1.449e-06	0.0004	2.4e-07	9e-08	6.161e-05	2.547e-05	0	0	0	0	0	0.0004	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.36	0.11919	T	0.0	0.92824	D	0.59	0.39078	P	0.078	0.28627	B	.	.	.	.	1	0.08975	N	0.805	0.20218	L	-1.76	0.83578	D	0.07	0.06138	N	0.078	0.05287	-0.8697	0.50552	T	0.189	0.54064	T	9	0.10056299	0.18321	T	0.008357	0.22130	T	0.160	0.41473	0.173	0.07894	0.238096912614	0.23440	0.06037249050783251	0.05977	.	.	0.226923644543	0.01748	T	0.007005	0.06432	T	-0.158716	0.26957	T	-0.465761	0.25973	T	0.119533367792517	0.14384	T	.	.	.	0.025153117	0.01421	0.050159402	0.07814	0.025153117	0.01421	0.050159402	0.07814	.	.	.	.	.	0.077	0.06250	B	.;.	.;.	-0.073427	0.03801	0.805	0.99036475114184386	0.50917	0.00842	0.03373	N	AEFBI	0.018852	0.00605	N	-1.05896281763831	0.07412	0.3442785	-1.18013446192634	0.06242	0.2998564	1.47376749906807E-5	0.02871	0.516011	0.20929	0	0.610034	0.51514	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	2.66	-1.38	0.08554	-0.064000	0.11593	.	.	-0.113000	0.14837	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1739:0.2264:0.3692:0.2305	0.750	0.00926	830	0.39242	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	1708.83	37	chr19	39785830	.	G	A	1708.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.081;DP=299;ExcessHet=0;FS=3.31;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.01;ReadPosRankSum=-0.158;SOR=1.011	GT:AD:DP:GQ:PL	0/1:52,70:122:99:1719,0,1285	5	0	1	0
chr19	41201366	41201366	G	A	exonic	CYP2S1	.	nonsynonymous SNV	CYP2S1:NM_030622:exon6:c.G970A:p.V324I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.071	0.00299144910749	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.368e-06	1.368e-06	0	2.751e-06	1.799e-06	2.3e-07	9e-08	3e-07	1.1e-07	0	0	0	0	0	0	1.799e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.278	0.15613	T	0.645	0.32040	T	0.016	0.17332	B	0.056	0.26147	B	0.002913	0.35737	N	0.218297	0.999519	0.21065	N	0.24	0.09707	N	-0.51	0.70597	T	-0.44	0.14588	N	0.118	0.10769	-1.0553	0.12961	T	0.149	0.47593	T	10	0.120156825	0.22754	T	0.002991	0.06398	T	0.071	0.20720	0.689	0.82653	0.198526703765	0.19489	0.5991679320640718	0.59847	0.336124763175	0.35611	0.444583952427	0.31203	T	0.004039	0.08629	T	-0.106639	0.35323	T	-0.390956	0.34440	T	0.126980245113373	0.15100	T	0.568443	0.23656	T	0.05020537	0.09035	0.04346024	0.05411	0.05020537	0.09035	0.04346024	0.05411	-4.567	0.31754	T	.	.	0.088	0.17275	B	.;.	.;.	2.144684	0.27310	17.42	0.97859255854444449	0.36452	0.26169	0.22915	N	AEFBI	0.060685	0.11551	N	-0.60571539057044	0.18771	0.9772639	-0.522708684875871	0.21537	1.165564	0.00592183462212344	0.11080	0.67177	0.52595	0	0.627178	0.54094	0	0.702456	0.68683	0	0.567892	0.33627	0	.	.	5.2	1.72	0.23498	0.604000	0.23862	5.480000	0.48720	0.614000	0.49286	0.075000	0.22209	1.000000	0.68203	0.985000	0.61073	0.2716:0.0:0.546:0.1823	3.473	0.07140	603	0.67726	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	1130.83	34	chr19	41201366	.	G	A	1130.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.872;DP=263;ExcessHet=0;FS=2.92;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.3;ReadPosRankSum=-0.935;SOR=0.395	GT:AD:DP:GQ:PL	0/1:39,46:85:99:1141,0,1008	5	0	1	0
chr19	41809979	41809979	G	A	exonic	CEACAM3	.	nonsynonymous SNV	CEACAM3:NM_001815:exon4:c.G557A:p.R186H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	0.000904760843884	0.0003	.	0.0003	9.992e-05	0	0.0001	0	0.0005	0	0	0.0002393	37	154602	rs200503121	0.0002	0.0002	0.0002	0.0002	6.71e-05	0.0002	0.0002	3.373e-05	3.039e-05	5.974e-05	6.71e-05	0.0086	2.519e-05	0	0	4.407e-05	0.0006	1.159e-05	0.0003	0.0003	0.0003	0.0002	0.0002	0.0002	0.0002	3.764e-05	2.576e-05	7.245e-05	0	6.551e-05	0.0089	0.0002	0	0	8.825e-05	0	0	0.168	0.23007	T	0.368	0.16570	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	0.65	0.16133	N	4.89	0.01430	T	0.54	0.02764	N	0.058	0.02964	-0.9218	0.45307	T	0.003	0.00832	T	9	0.0039978325	0.00077	T	9.05E-4	0.00844	T	0.014	0.01968	.	.	0.132336055621	0.12781	0.11250088237903323	0.11179	0.116934388882	0.13187	0.263997375965	0.05376	T	0.003673	0.03081	T	-0.594209	0.00158	T	-0.865615	0.00785	T	0.0146860286802308	0.00305	T	0.50185	0.15733	T	0.017889794	0.00313	0.028667724	0.01125	0.017889794	0.00312	0.028667724	0.01124	-6.766	0.52306	T	.	.	0.079	0.07272	B	.	.	-0.343898	0.02430	0.275	0.68482300399570317	0.08672	0.00040	0.00335	N	AEFBI	0.022455	0.01124	N	-1.86179266584605	0.00411	0.01766537	-1.95169444900417	0.00386	0.0170453	0.998941214373891	0.38034	0.487112	0.14033	0	0.586423	0.34054	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	2.0	-4.0	0.03787	-2.517000	0.01030	-8.843000	0.00905	-0.904000	0.02305	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.2339:0.3513:0.4149:0.0	5.071	0.13940	460	0.78750	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	3706.83	39	chr19	41809979	.	G	A	3706.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.74;DP=589;ExcessHet=0;FS=2.473;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.19;ReadPosRankSum=0.148;SOR=0.561	GT:AD:DP:GQ:PL	0/1:142,162:304:99:3717,0,3220	5	0	1	0
chr19	41912895	41912895	G	T	exonic	ERFL	.	nonsynonymous SNV	ERFL:NM_001365103:exon2:c.C25A:p.L9I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	4.104e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.22903585	0.39822	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.636336	0.25008	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.105	0.19357	B	.	.	4.447358	0.69097	25.3	0.95611971507018989	0.27366	0.71671	0.35114	D	AEFDBHCI	.	.	.	.	.	.	.	.	.	0.725481214827727	0.22982	0.166803	0.03914	0	0.067947	0.01809	2	0.182457	0.04408	0	0.109499	0.03221	0	0.357734	0.36409	2.28	2.28	0.27583	3.866000	0.55752	9.687000	0.81262	0.512000	0.23348	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:0.7192:0.2808	6.712	0.22473	654	0.62520	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2	36.57	1	chr19	41912895	.	G	T	36.57	.	AC=2;AF=0.2;AN=10;DP=9;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.1;MQ=60;QD=18.28;SOR=0.693	GT:AD:DP:GQ:PL	1/1:0,2:2:6:49,6,0	4	1	0	1
chr19	42764036	42764036	T	C	exonic	PSG8	.	nonsynonymous SNV	PSG8:NM_001130167:exon2:c.A310G:p.N104D,PSG8:NM_182707:exon2:c.A310G:p.N104D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.046	0.000487092193153	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.841e-07	6.841e-07	1.361e-06	0	0.0002	0	0	.	.	0	0	0	0	0	0.0002	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.069	0.44302	T	0.996	0.68779	D	0.988	0.77976	D	.	.	.	.	1	0.19072	N	2.06	0.56677	M	4.7	0.01673	T	-3.86	0.75615	D	0.345	0.38643	-1.0284	0.20973	T	0.019	0.07800	T	9	0.72880024	0.74156	D	4.87E-4	0.00143	T	0.046	0.12618	0.85	0.95202	0.126345400529	0.12197	0.09227949537311145	0.09159	0.0345443991487	0.03633	0.511173129082	0.40387	T	0.031005	0.21841	T	-0.255078	0.13483	T	-0.604178	0.12462	T	0.864223062992096	0.51441	D	0.825917	0.48908	T	0.539289	0.69356	0.65882903	0.80016	0.539289	0.69358	0.65882903	0.80017	-7.488	0.57526	T	.	.	0.145	0.32005	B	.;.;.	.;.;.	1.652791	0.21087	15.04	0.99404878082574011	0.62981	0.01166	0.04198	N	AEFI	0.047718	0.08064	N	-0.224773157259852	0.32120	1.808055	-0.52074439761036	0.21590	1.16868	0.00426328684154434	0.10480	0.428477	0.06694	0	0.547309	0.14657	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	1.35	1.35	0.21078	0.171000	0.16497	-1.295000	0.05789	0.361000	0.20101	0.010000	0.18352	0.000000	0.08366	0.047000	0.14932	0.0:0.0:0.0:1.0	4.884	0.13051	410	0.82135	.;Immunoglobulin V-set domain|Immunoglobulin subtype;Immunoglobulin V-set domain|Immunoglobulin subtype	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	4338.83	35	chr19	42764036	.	T	C	4338.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.4;DP=576;ExcessHet=0;FS=6.683;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.42;ReadPosRankSum=-1.125;SOR=0.995	GT:AD:DP:GQ:PL	0/1:205,175:380:99:4349,0,5237	5	0	1	0
chr19	43966568	43966568	C	T	exonic	ZNF221	.	nonsynonymous SNV	ZNF221:NM_001297588:exon5:c.C1066T:p.H356Y,ZNF221:NM_001297589:exon5:c.C1066T:p.H356Y,ZNF221:NM_013359:exon6:c.C1066T:p.H356Y	.	408	1113	1	0	0	1	0.000449035	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.369	0.000895070584115	.	.	9.06e-05	0	0	0	0	0	0.0011	0.0006	7.12e-05	11	154602	rs779217402	3.215e-05	3.215e-05	1.77e-05	4.675e-05	0.0005	2.478e-05	2.22e-05	0.0004	0.0003	0	0	0	0	0	0	1.799e-06	4.967e-05	0.0005	6.572e-06	6.567e-06	0	1.345e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	.	.	.	.	0.958461	0.26223	N	3.805	0.95442	H	-2.17	0.86624	D	-5.03	0.82575	D	0.266	0.30118	0.116	0.84472	D	0.793	0.92997	D	9	0.7179773	0.73472	D	8.95E-4	0.00822	T	0.369	0.68844	0.736	0.86892	0.919440382184	0.91862	.	.	0.201851073851	0.22596	0.647386729717	0.59615	T	0.383177	0.74509	T	-0.0939833	0.37419	T	-0.0448166	0.67375	D	0.822049558162689	0.47925	D	0.768023	0.39669	T	0.06855224	0.14943	0.13527983	0.32394	0.06855224	0.14943	0.13527983	0.32393	-10.758	0.78314	D	.	.	0.875	0.81188	P	.;.;.;.	.;.;.;.	2.973913	0.39645	21.0	0.99480692047139097	0.66850	0.93586	0.58622	D	AEFBHCI	0.302846	0.41098	N	0.273221896291169	0.54796	3.644342	0.0153288909566957	0.40427	2.412368	0.997720098133445	0.35952	0.562547	0.31514	0	0.546412	0.12157	0	0.608884	0.39905	0	0.491896	0.07777	0	.	.	1.95	1.95	0.25130	5.444000	0.66335	.	.	0.581000	0.30040	0.996000	0.39380	0.000000	0.08366	0.009000	0.08673	0.0:1.0:0.0:0.0	10.857	0.46011	656	0.62345	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	2311.83	132	chr19	43966568	.	C	T	2311.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-3.592;DP=800;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.17;ReadPosRankSum=-2.887;SOR=0.704	GT:AD:DP:GQ:PL	0/1:97,93:190:99:2322,0,2689	5	0	1	0
chr19	44274032	44274032	G	A	exonic	ZNF233	.	nonsynonymous SNV	ZNF233:NM_001207005:exon5:c.G1372A:p.D458N,ZNF233:NM_181756:exon5:c.G1372A:p.D458N	.	393	1123	1	0	5	6	0.000445038	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.061	0.00864142268942	.	.	4.191e-05	0	0	0	0	0	0.0011	0.0002	3.23e-05	5	154602	rs759797775	1.238e-05	1.307e-05	5.48e-06	1.934e-05	0.0002	7.74e-06	6.39e-06	0.0001	0.0001	0	0	0	0	0	0	0	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.016	0.60972	D	0.009	0.15093	B	0.016	0.17743	B	.	.	.	.	0.999146	0.81001	N	0.28	0.10031	N	3.71	0.04046	T	0.43	0.03297	N	0.103	0.08646	-1.0083	0.27448	T	0.036	0.15422	T	9	0.05530867	0.06026	T	0.008641	0.22829	T	0.061	0.17616	0.59	0.71874	0.117506650769	0.11410	0.01881909633755758	0.01835	0.0884735976888	0.10002	0.311774343252	0.12174	T	0.011376	0.10158	T	-0.531624	0.00376	T	-0.727118	0.04460	T	0.122603189217633	0.14682	T	0.933807	0.75196	D	0.0722306	0.16053	0.079002984	0.17747	0.0722306	0.16052	0.079002984	0.17747	-5.468	0.41568	T	.	.	0.129	0.27642	B	.	.	2.703871	0.35325	19.87	0.99799350631477912	0.88461	0.91303	0.53262	D	AEFBI	0.184217	0.31154	N	-0.551326487656375	0.20442	1.077651	-0.554996204476344	0.20673	1.114895	0.00974098780096815	0.11905	0.553676	0.25195	0	0.588015	0.36545	0	0.463624	0.06942	0	0.564101	0.26826	0	.	.	4.29	0.846	0.18094	1.757000	0.38029	.	.	0.656000	0.54149	0.966000	0.33990	0.000000	0.08366	0.009000	0.08673	0.1793:0.1535:0.6673:0.0	6.375	0.20707	817	0.41665	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	1305.83	33	chr19	44274032	.	G	A	1305.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-5.689;DP=262;ExcessHet=0;FS=4.002;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.51;ReadPosRankSum=-0.033;SOR=0.458	GT:AD:DP:GQ:PL	0/1:39,51:90:99:1316,0,1211	5	0	1	0
chr19	44388020	44388020	C	A	exonic	ZNF285	.	nonsynonymous SNV	ZNF285:NM_001291489:exon4:c.G225T:p.Q75H,ZNF285:NM_152354:exon4:c.G225T:p.Q75H,ZNF285:NM_001291488:exon5:c.G246T:p.Q82H	.	433	1088	1	0	0	1	0.000459348	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.022	0.00267539601893	.	.	5.785e-05	0	0	0	0	7.505e-05	0	0.0001	4.53e-05	7	154602	rs763818931	2.257e-05	2.257e-05	1.633e-05	2.888e-05	0.0009	1.61e-05	1.416e-05	0.0003	0.0002	0	0	0	0	0	0.0009	1.169e-05	0.0001	8.115e-05	6.571e-06	6.567e-06	1.285e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	.	.	.	0.091	0.40110	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	3.17	0.07711	T	.	.	.	0.11	0.15469	-0.9649	0.38230	T	0.015	0.05897	T	9	0.04489231	0.03497	T	0.002675	0.05463	T	0.022	0.04323	0.43	0.47843	0.137902524267	0.13322	0.07063518868919941	0.07000	.	.	.	.	.	.	.	.	-0.298443	0.08807	T	-0.666469	0.07835	T	0.0480769297270904	0.05157	T	0.507449	0.16094	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.461	0.62859	A	.;.;.	.;.;.	1.364273	0.17734	13.34	0.98307957363245579	0.40116	0.01846	0.05714	N	AEFDBI	0.044128	0.07061	N	-0.775589954892874	0.13949	0.690945	-0.76962919380966	0.15240	0.8005609	8.66418695952835E-5	0.04703	0.651	0.46895	0	0.573888	0.26702	0	0.653264	0.51672	0	0.683762	0.67416	0	.	.	3.66	-0.0131	0.13310	-0.833000	0.04503	.	.	0.530000	0.24713	0.000000	0.06391	0.000000	0.08366	0.954000	0.50415	0.2063:0.5526:0.0:0.2411	3.197	0.06241	912	0.21483	.;.;Krueppel-associated box	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	865.83	37	chr19	44388020	.	C	A	865.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.282;DP=282;ExcessHet=0;FS=0.908;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.19;ReadPosRankSum=-0.851;SOR=0.536	GT:AD:DP:GQ:PL	0/1:35,36:71:99:876,0,948	5	0	1	0
chr19	45348072	45348072	C	T	exonic	KLC3	.	nonsynonymous SNV	KLC3:NM_177417:exon5:c.C691T:p.R231C	.	418	1102	2	0	0	2	0.000906618	.	.	.	3452338	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.114	0.159609576614	7.7e-05	.	0.0004	0.0006	0	0.0002	0	0.0001	0	0.0014	0.0001552	24	154602	rs375917528	9.309e-05	9.44e-05	7.402e-05	0.0001	0.0006	8.022e-05	7.491e-05	0.0005	0.0004	9.023e-05	2.328e-05	0	7.664e-05	0	0	6.324e-05	0.0001	0.0006	5.913e-05	5.91e-05	7.708e-05	4.035e-05	0.0004	3.077e-05	2.21e-05	7.285e-05	3.027e-05	9.65e-05	0	0.0001	0	0	0	0	1.47e-05	0	0.0004	0.0	0.91255	D	0.002	0.83351	D	0.034	0.20480	B	0.013	0.16460	B	0.000178	0.48594	D	0.081040	0.999863	0.50061	D	1.245	0.31408	L	0.69	0.51714	T	-5.01	0.82450	D	0.556	0.58798	-1.0042	0.28696	T	0.088	0.34023	T	10	0.09420344	0.16730	T	0.15961	0.83978	D	0.114	0.32008	.	.	0.560228584591	0.55684	0.6121561658443477	0.61147	0.0643067780988	0.07168	0.730396389961	0.71564	T	0.525515	0.83485	D	-0.365866	0.03809	T	-0.385047	0.35131	T	0.18724508054785	0.19680	T	0.866613	0.56692	D	0.590508	0.72178	0.37259114	0.62464	0.590508	0.72179	0.37259114	0.62464	-11.369	0.82074	D	.	.	0.424	0.68235	A	.;.;.;.;.	.;.;.;.;.	5.674132	0.92956	33	0.99867812666052769	0.94547	0.77855	0.38330	D	AEFDBCI	0.523696	0.54719	D	-0.274127952107889	0.30151	1.67852	-0.187514263725576	0.31994	1.81596	0.928132412965094	0.26917	0.660377	0.49826	0	0.514364	0.08380	0	0.696353	0.63694	0	0.645665	0.59343	0	.	.	3.24	2.2	0.26966	2.495000	0.44997	1.332000	0.25676	0.580000	0.29708	1.000000	0.71638	0.988000	0.31051	0.978000	0.57271	0.2318:0.6431:0.0:0.1251	4.035	0.09209	917	0.20147	Tetratricopeptide repeat-containing domain;Tetratricopeptide repeat-containing domain;.;Tetratricopeptide repeat-containing domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	724.83	33	chr19	45348072	.	C	T	724.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.89;DP=215;ExcessHet=0;FS=1.298;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=17.26;ReadPosRankSum=0.572;SOR=0.385	GT:AD:DP:GQ:PL	0/1:18,24:42:99:735,0,474	5	0	1	0
chr19	45770512	45770512	G	A	exonic	DMPK	.	nonsynonymous SNV	DMPK:NM_001288765:exon13:c.C1595T:p.A532V,DMPK:NM_001081562:exon15:c.C1847T:p.A616V	Myotonic dystrophy 1, Autosomal dominant	1	1518	3	0	0	3	0.000987167	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.122	0.148396511481	.	0.000998403	0.0022	0	0	0	0	0.0002	0	0.0046	0.0002781	43	154602	rs531756343	0.0003	0.0003	0.0002	0.0004	0.0048	0.0003	0.0003	0.0044	0.0042	0	2.802e-05	0	2.798e-05	0	0.0009	8.343e-06	0.0003	0.0048	0.0002	0.0002	6.422e-05	0.0003	0.0060	0.0001	0.0001	0.0043	0.0037	0	0	0	0	0	0	0	0	0	0.0060	0.0	0.91255	D	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	0.99666	0.43340	D	.	.	.	-0.33	0.68329	T	-0.77	0.21429	N	0.104	0.10769	-1.0542	0.13251	T	0.135	0.44933	T	8	0.005459368	0.00120	T	0.148397	0.83032	D	0.122	0.33800	.	.	0.549249573952	0.54581	.	.	.	.	.	.	.	.	.	.	-0.262024	0.12665	T	-0.148065	0.59414	T	0.0739941283604596	0.09201	T	0.482252	0.14601	T	.	.	.	.	.	.	.	.	-4.563	0.31703	T	.	.	0.080	0.07889	B	.;.;.	.;.;.	0.893882	0.12673	9.198	0.98345346053517269	0.40487	0.12524	0.17321	N	ALL	0.147224	0.27085	N	-0.862451051455916	0.11746	0.5685043	-0.870956801713305	0.12785	0.6596362	0.999999999997198	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	4.06	1.89	0.24700	0.288000	0.18695	2.195000	0.31239	-0.208000	0.08445	0.000000	0.06391	0.978000	0.30204	0.045000	0.14751	0.1101:0.1986:0.6913:0.0	5.650	0.16888	799	0.44747	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	514.83	34	chr19	45770512	.	G	A	514.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.78;DP=178;ExcessHet=0;FS=1.609;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=17.16;ReadPosRankSum=-0.969;SOR=1.207	GT:AD:DP:GQ:PL	0/1:10,20:30:99:525,0,228	5	0	1	0
chr19	48123309	48123309	G	A	exonic	LIG1	.	nonsynonymous SNV	LIG1:NM_001289064:exon20:c.C1810T:p.R604C,LIG1:NM_001289063:exon21:c.C1921T:p.R641C,LIG1:NM_001320971:exon21:c.C1924T:p.R642C,LIG1:NM_000234:exon22:c.C2014T:p.R672C,LIG1:NM_001320970:exon22:c.C2011T:p.R671C	DNA ligase I deficiency (3)	422	1099	1	0	0	1	0.000454752	.	.	.	1347348	not_provided|Immunodeficiency_96	MedGen:C3661900|MONDO:MONDO:0030693,MedGen:C5676930,OMIM:619774	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.598	0.0969984534884	0.0005	0.000199681	0.0002	9.897e-05	0	0	0.0002	0.0003	0	0.0001	0.0001876	29	154602	rs55950593	0.0003	0.0003	0.0003	0.0002	0.0007	0.0002	0.0002	0.0003	0.0003	5.974e-05	2.236e-05	0	5.038e-05	1.894e-05	0.0007	0.0003	0.0002	0.0001	0.0003	0.0003	0.0003	0.0003	0.0004	0.0002	0.0002	0.0003	0.0002	0.0002	0	6.535e-05	0	0	0	0.0034	0.0004	0.0014	0	0.002	0.72154	D	0.01	0.70582	D	0.999	0.90584	D	0.893	0.65739	P	0.000002	0.62929	D	0.060149	1	0.81001	D	3.555	0.93317	H	-1.53	0.81559	D	-5.92	0.88963	D	0.546	0.58629	0.482	0.90296	D	0.679	0.88903	D	10	0.50501317	0.61767	D	0.096998	0.76699	D	0.598	0.84074	.	.	0.846800510397	0.84533	0.3703831264285899	0.36952	1.08646876882	0.77298	0.604157567024	0.53492	T	0.748744	0.93098	D	0.0191525	0.54267	T	0.0986023	0.76816	D	0.913288116455078	0.56950	D	0.977202	0.93576	D	0.7803998	0.82678	0.5671814	0.74945	0.7803998	0.82680	0.5671814	0.74945	-10.951	0.81027	D	.	.	0.124	0.29200	B	.;.;.;.	.;.;.;.	5.628418	0.92656	32	0.99943225451266759	0.99848	0.89343	0.49750	D	AEFBI	0.403335	0.47706	N	0.696412663512058	0.79398	7.069019	0.60249595135458	0.75120	6.254853	0.999978676157658	0.50053	0.730579	0.87903	0	0.702456	0.74545	0	0.743671	0.96076	0	0.648885	0.59868	0	.	.	5.06	5.06	0.67838	3.495000	0.53043	9.619000	0.81102	0.676000	0.76740	0.973000	0.34540	1.000000	0.68203	0.995000	0.73285	0.0:0.0:0.8196:0.1804	11.423	0.49239	846	0.36215	DNA ligase, ATP-dependent, central|DNA ligase, ATP-dependent, central;DNA ligase, ATP-dependent, central|DNA ligase, ATP-dependent, central;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	293.83	34	chr19	48123309	.	G	A	293.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.267;DP=197;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=6.83;ReadPosRankSum=-0.104;SOR=0.746	GT:AD:DP:GQ:PL	0/1:29,14:43:99:304,0,742	5	0	1	0
chr19	49446561	49446561	C	G	exonic	PIH1D1	.	nonsynonymous SNV	PIH1D1:NM_017916:exon8:c.G821C:p.R274P	.	419	1102	1	0	0	1	0.000453515	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.076	0.0223526205838	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.42e-06	3.42e-06	4.084e-06	2.75e-06	0.0005	1e-06	7.3e-07	0.0001	7.541e-05	0	0	0	0	0	0.0005	0	3.312e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.104	0.29959	T	0.046	0.49120	D	0.771	0.43934	P	0.434	0.45506	B	0.722590	0.09922	N	0.862774	1	0.08975	N	1.15	0.29295	L	2.12	0.19726	T	-2.82	0.59545	D	0.537	0.56576	-1.0247	0.22181	T	0.042	0.18035	T	10	0.12529069	0.23807	T	0.022353	0.45230	T	0.076	0.22200	0.569	0.69167	0.146414634003	0.14194	0.6257540570913488	0.62508	1.43342670029	0.85851	0.224201127887	0.01567	T	0.031058	0.21869	T	-0.170346	0.25182	T	-0.482466	0.24184	T	0.694711625576019	0.40467	D	0.70183	0.31167	T	0.8843854	0.90031	0.6486811	0.79451	0.8843854	0.90032	0.6486811	0.79452	-5.319	0.40131	T	.	.	0.266	0.50035	B	.;.;.	.;.;.	2.601198	0.33767	19.44	0.93547023566789456	0.23376	0.05308	0.11156	N	AEFBI	0.283268	0.39641	N	-0.740597128087105	0.14890	0.7456406	-0.898840516367826	0.12121	0.6216744	0.993929941494035	0.33413	0.732398	0.92422	0	0.702456	0.74545	0	0.724815	0.87919	0	0.727631	0.95156	0	.	.	3.88	-2.47	0.06070	-0.043000	0.11996	-2.911000	0.03238	-0.195000	0.09104	0.000000	0.06391	0.000000	0.08366	0.883000	0.42306	0.0:0.4356:0.0:0.5644	7.660	0.27567	809	0.43032	PIH1 domain|PIH1 domain;PIH1 domain|PIH1 domain;PIH1 domain|PIH1 domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	943.83	53	chr19	49446561	.	C	G	943.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.563;DP=333;ExcessHet=0;FS=1.662;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.26;ReadPosRankSum=-0.247;SOR=0.802	GT:AD:DP:GQ:PL	0/1:49,43:92:99:954,0,1217	5	0	1	0
chr19	49596837	49596837	-	CCACCT	exonic	PRR12	.	nonframeshift insertion	PRR12:NM_020719:exon4:c.2502_2503insCCACCT:p.P845_M846insPP	.	370	1149	2	0	1	3	0.000869565	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.112e-05	0	0	0	0	4.436e-05	0	0.0002	3.84e-05	1	26028	rs778541464	8.058e-05	8.218e-05	7.33e-05	8.794e-05	0.0004	6.838e-05	6.364e-05	0.0003	0.0002	0	0	0	0	0	0	7.044e-05	0.0001	0.0004	3.958e-05	3.944e-05	5.156e-05	2.702e-05	0.0004	1.721e-05	1.133e-05	7.327e-05	3.042e-05	0	0	0	0	0	0	0	5.894e-05	0	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	724.79	35	chr19	49596837	.	G	GCCACCT	724.79	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.523;DP=218;ExcessHet=0;FS=3.256;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=23.38;ReadPosRankSum=0.609;SOR=0.85	GT:AD:DP:GQ:PL	0/1:12,19:31:99:735,0,438	5	0	1	0
chr19	49960404	49960404	C	G	exonic	SIGLEC11	.	nonsynonymous SNV	SIGLEC11:NM_001135163:exon3:c.G478C:p.D160H,SIGLEC11:NM_052884:exon3:c.G478C:p.D160H	.	421	1077	24	0	0	24	0.0110193	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.048	.	0.0042	0.00499201	0.0061	0.0016	0.0021	0	0.0136	0.0066	0.0101	0.0091	0.005084	786	154602	rs144427989	0.0043	0.0060	0.0041	0.0045	0.0088	0.0042	0.0042	0.0074	0.0072	0.0016	0.0030	0.0011	5.038e-05	0.0131	0.0088	0.0039	0.0048	0.0079	0.0053	0.0055	0.0048	0.0059	0.0081	0.0050	0.0049	0.0060	0.0054	0.0017	0.0055	0.0058	0.0006	0	0.0135	0.0069	0.0061	0.0040	0.0081	0.055	0.38407	T	0.097	0.43721	T	0.995	0.67487	D	0.968	0.71741	D	0.003498	0.34874	N	0.201199	1	0.08975	N	1.865	0.49290	L	3.97	0.03326	T	-4.74	0.80172	D	0.345	0.38643	-1.0378	0.17985	T	0.017	0.07045	T	10	0.012047231	0.00260	T	.	.	.	0.048	0.13305	.	.	0.295623431141	0.29171	0.36662965196216724	0.36576	2.64688053248	0.98432	0.326464056969	0.14400	T	0.041299	0.25811	T	-0.598975	0.00148	T	-0.627048	0.10640	T	0.0569233820789417	0.06675	T	0.784422	0.42203	T	0.1315014	0.30649	0.15962303	0.37218	0.1315014	0.30649	0.15962303	0.37217	-7.643	0.58611	D	.	.	0.354	0.57853	A	.;.	.;.	1.953549	0.24815	16.54	0.97460583614966334	0.34079	0.02722	0.07384	N	AEFBI	0.042872	0.06705	N	-0.407654010782869	0.25201	1.366258	-0.710024294911404	0.16711	0.8853059	8.44641291639182E-4	0.07902	0.487112	0.14033	0	0.547309	0.14657	0	0.59043	0.30614	0	0.564101	0.26826	0	.	.	3.28	-1.9	0.07248	0.474000	0.21858	-1.144000	0.06200	0.596000	0.33519	0.002000	0.15269	0.000000	0.08366	0.012000	0.09680	0.0:0.3358:0.4057:0.2585	3.862	0.08508	681	0.59854	Immunoglobulin-like domain;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.013815	0.000000	0.029973	0.004032	0.000000	0.000000	0.003067	0.011450	0.1667	4973.06	84	chr19	49960404	.	C	G	4973.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=0.572;DP=671;ExcessHet=0.4139;FS=0;MLEAC=2;MLEAF=0.167;MQ=53.32;MQRankSum=-1.062;QD=10.65;ReadPosRankSum=2.88;SOR=0.689	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:138,76:214:99:0|1:49960404_C_G:2749,0,5463:49960404	4	0	2	0
chr19	50454331	50454331	G	A	exonic	MYBPC2	.	stopgain	MYBPC2:NM_004533:exon18:c.G1976A:p.W659X	.	428	1079	15	0	0	15	0.0069029	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000199681	0.0004	0	0.0002	0	0	0.0004	0	0.0014	0.0003428	53	154602	rs201432361	0.0003	0.0003	0.0002	0.0003	0.0036	0.0003	0.0002	0.0024	0.0021	0	0.0002	0.0007	0	3.746e-05	0.0036	0.0002	0.0006	0.0016	0.0002	0.0002	0.0003	0.0002	0.0017	0.0002	0.0002	0.0008	0.0006	0	0	0.0003	0.0003	0	0	0.0034	0.0003	0.0005	0.0017	.	.	.	.	.	.	.	.	.	.	.	.	0.002862	0.35804	U	0.000000	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.235	0.26475	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.299576	0.82934	D	0.61701	0.97470	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive	High	10.462229	0.99753	47	0.99737816710304616	0.83264	0.99008	0.89887	D	AEFBI	0.239093	0.36112	N	0.779616868943153	0.84816	8.394412	0.599427983177341	0.74899	6.216245	0.462213884776719	0.20634	0.615465	0.37627	0	0.633656	0.55848	0	0.596874	0.31795	0	0.542086	0.14980	0	.	.	3.47	3.47	0.38831	8.949000	0.92922	11.644000	0.93817	0.674000	0.70861	1.000000	0.71638	1.000000	0.68203	0.954000	0.50415	0.0:0.0:1.0:0.0	12.345	0.54442	867	0.32089	Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.001359	0.002924	0.000000	0.000000	0.000000	0.003788	0.08333	1129.83	34	chr19	50454331	.	G	A	1129.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.77;DP=304;ExcessHet=0;FS=1.545;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=9.82;ReadPosRankSum=-2.467;SOR=0.51	GT:AD:DP:GQ:PL	0/1:69,46:115:99:1140,0,1721	5	0	1	0
chr19	51627974	51627974	G	-	exonic	SIGLEC5	.	frameshift deletion	SIGLEC5:NM_001384708:exon5:c.857delC:p.P286Lfs*3,SIGLEC5:NM_001384709:exon5:c.857delC:p.P286Lfs*3,SIGLEC5:NM_003830:exon5:c.857delC:p.P286Lfs*3	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.842e-07	6.84e-07	1.361e-06	0	0.0002	0	0	.	.	0	0	0	0	0	0.0002	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	1338.79	40	chr19	51627973	.	AG	A	1338.79	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.951;DP=308;ExcessHet=0;FS=4.922;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.26;ReadPosRankSum=0.01;SOR=0.368	GT:AD:DP:GQ:PL	0/1:53,48:101:99:1349,0,1473	5	0	1	0
chr19	52366453	52366453	C	A	exonic	ZNF610	.	nonsynonymous SNV	ZNF610:NM_001161427:exon5:c.C946A:p.L316I,ZNF610:NM_001161425:exon6:c.C1075A:p.L359I,ZNF610:NM_001161426:exon6:c.C1075A:p.L359I,ZNF610:NM_173530:exon6:c.C1075A:p.L359I	.	6	1479	36	1	0	38	0.0126836	.	.	.	2818715	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.138	.	0.0022	0.00399361	0.0037	0.0006	0.0028	0.0001	0.0002	0.0032	0.0011	0.0117	0.0034282	530	154602	rs144352698	0.0030	0.0030	0.0027	0.0034	0.0123	0.0030	0.0029	0.0117	0.0114	0.0005	0.0019	0.0036	5.038e-05	0.0005	0.0088	0.0026	0.0029	0.0123	0.0021	0.0022	0.0019	0.0024	0.0108	0.0020	0.0019	0.0084	0.0076	0.0004	0	0.0019	0.0040	0	0.0003	0	0.0030	0.0033	0.0108	0.01	0.56456	D	0.0	0.92824	D	0.998	0.73220	D	0.998	0.88582	D	.	.	.	.	1	0.08975	N	2.405	0.69568	M	0.6	0.53731	T	-1.88	0.43906	N	0.168	0.33469	-0.8260	0.53556	T	0.268	0.63897	T	9	0.006195247	0.00140	T	.	.	.	0.138	0.37187	.	.	0.357313475932	0.35345	0.07897813581120881	0.07832	0.667473376711	0.59254	0.455513358116	0.32697	T	0.124539	0.44965	T	-0.40798	0.02050	T	-0.348423	0.39386	T	0.0223659140996602	0.00950	T	0.788921	0.42853	T	0.12749851	0.29834	0.083505414	0.19142	0.12749851	0.29833	0.083505414	0.19142	-8.607	0.65962	D	.	.	0.516	0.65305	A	.;.;.;.;.;.	.;.;.;.;.;.	2.572912	0.33343	19.31	0.99012663866753703	0.50399	0.11661	0.16780	N	AEFBHCI	0.088810	0.18004	N	-0.141584637305298	0.35594	2.046453	-0.471755429597885	0.22935	1.248259	5.98424221339833E-4	0.07414	0.615465	0.37627	0	0.588066	0.40923	0	0.658983	0.55881	0	0.567892	0.33627	0	.	.	1.69	1.69	0.23290	1.044000	0.29939	.	.	0.502000	0.22824	0.851000	0.30461	0.000000	0.08366	0.014000	0.10232	0.0:0.817:0.0:0.183	5.980	0.18633	988	0.01987	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;.;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;.;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.004532	0.000000	0.002717	0.002924	0.000000	0.000000	0.006098	0.018939	0.08333	1770.83	52	chr19	52366453	.	C	A	1770.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-4.249;DP=407;ExcessHet=0;FS=1.581;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=15.81;ReadPosRankSum=0.813;SOR=0.542	GT:AD:DP:GQ:PL	0/1:39,73:112:99:1781,0,1007	5	0	1	0
chr19	53175481	53175481	C	A	exonic	ZNF665	.	nonsynonymous SNV	ZNF665:NM_001353459:exon3:c.G106T:p.V36F,ZNF665:NM_024733:exon3:c.G106T:p.V36F,ZNF665:NM_001353457:exon4:c.G100T:p.V34F,ZNF665:NM_001353458:exon4:c.G190T:p.V64F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.102	0.002191614004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.0	0.92824	D	1.0	0.90584	D	0.986	0.76916	D	.	.	.	.	0.978168	0.25266	N	.	.	.	3.73	0.03982	T	-4.29	0.76414	D	0.743	0.74280	-1.1268	0.01941	T	0.042	0.18160	T	8	0.91833746	0.91191	D	0.002192	0.04124	T	0.102	0.29158	0.773	0.89924	0.587357208644	0.58409	0.27266286059143896	0.27179	0.240067210854	0.26555	0.415126413107	0.27165	T	.	.	.	-0.168792	0.25418	T	-0.480235	0.24421	T	0.9617342156123	0.66166	D	0.572243	0.20426	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.781	0.76425	P	.	.	2.170676	0.27664	17.54	0.99253817899479113	0.56957	0.41580	0.26689	N	AEFBI	0.099685	0.20061	N	0.00572404316688088	0.42114	2.531507	-0.203545390909617	0.31407	1.77724	9.11325742557965E-5	0.04910	0.615465	0.37627	0	0.588015	0.36545	0	0.658983	0.55881	0	0.567892	0.33627	0	.	.	2.67	2.67	0.30756	0.545000	0.22976	.	.	0.473000	0.21965	0.217000	0.24502	0.000000	0.08366	0.238000	0.22948	0.0:1.0:0.0:0.0	11.073	0.47231	994	0.00715	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1508.83	40	chr19	53175481	.	C	A	1508.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.73;DP=302;ExcessHet=0;FS=4.813;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.51;ReadPosRankSum=-0.029;SOR=0.446	GT:AD:DP:GQ:PL	0/1:49,55:104:99:1519,0,1152	5	0	1	0
chr19	53267316	53267316	G	C	exonic	VN1R4	.	nonsynonymous SNV	VN1R4:NM_173857:exon1:c.C350G:p.A117G	.	429	996	97	0	0	97	0.0464337	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.048	.	0.0745	.	0.0723	0.1661	0.0578	0.1678	0.0343	0.0512	0.0526	0.0748	0.0574507	8882	154602	rs74359534	0.0001	0.0012	0.0001	0.0001	0.0005	0.0001	0.0001	0.0003	0.0002	0.0005	2.243e-05	3.834e-05	0.0003	0.0005	0	8.66e-05	0.0002	0.0002	0.0005	0.0022	0.0004	0.0006	0.0016	0.0004	0.0004	0.0008	0.0007	0.0011	0	0.0002	0.0003	0.0016	0.0002	0	0.0002	0.0005	0.0013	0.022	0.48642	D	0.031	0.53788	D	.	.	.	.	.	.	0.544248	0.05332	N	1.356640	1	0.08975	N	.	.	.	1.22	0.37052	T	-2.67	0.57110	D	0.067	0.03956	-0.9924	0.31985	T	0.002	0.00526	T	10	0.0025487542	0.00039	T	.	.	.	0.048	0.13305	.	.	.	.	0.05313922711391094	0.05255	0.384759530948	0.39774	0.249634504318	0.03729	T	.	.	.	-0.723375	0.00026	T	-0.704733	0.05570	T	0.0342202795027098	0.02675	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.089	0.12084	B	.	.	1.325632	0.17306	13.08	0.87963315563257027	0.17613	0.00907	0.03546	N	AEFGBI	0.029181	0.02709	N	-0.884326474785515	0.11215	0.5400046	-1.06817902281054	0.08332	0.4092313	4.69142761911595E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	2.28	-0.254	0.12350	0.747000	0.25956	.	.	-0.917000	0.02218	0.001000	0.13787	0.000000	0.08366	0.001000	0.02609	0.0:0.4302:0.3517:0.2182	5.387	0.15525	994	0.00715	.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0.090131	0.111111	0.103261	0.064327	0.050000	0.077586	0.091463	0.087121	0.08333	41.84	80	chr19	53267316	.	G	C	41.84	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-3.153;DP=471;ExcessHet=0;FS=3.377;MLEAC=1;MLEAF=0.083;MQ=51.64;MQRankSum=-6.83;QD=0.32;ReadPosRankSum=1.4;SOR=0.427	GT:AD:DP:GQ:PL	0/1:113,18:131:52:52,0,3439	5	0	1	0
chr19	54221344	54221344	-	CGG	exonic	LILRB3	.	nonframeshift insertion	LILRB3:NM_001081450:exon5:c.693_694insCCG:p.G232_A630delinsPGPVLAPGQSLTLQCGSDVGYDRFVLYKEGERDFLQRPGQQPQAGLSQANFTLGPVSRSYGGQYRCYGAHNLSSEWSAPSDPLDILITGQIYDTVSLSAQPGPTVASGENVTLLCQSRGYFDTFLLTKEGAAHPPLRLRSMYGAHKYQAEFPMSPVTSAHAGTYRCYGSRSSNPHLLSFPSEPLELMVSGHSGGSSLPPTGPPSTPGLGRYLEVLIGVSVAFVLLLFLLLFLLLRRQRHSKHRTSDQRKTDFQRPAGAAETEPKDRGLLRRSSPAADVQEENLYAAVKDTQSEDRVELDSQQSPHDEDPQAVTYAPVKHSSPRREMASPPSSLSGEFLDTKDRQVEEDRQMDTEAAASEASQDVTYAQLHSLTLRRKATEPPPSQEGEPPAEPSIYATLAIH*,LILRB3:NM_001320960:exon5:c.693_694insCCG:p.G232delinsPG,LILRB3:NM_006864:exon5:c.693_694insCCG:p.S232_L604delinsPSLLTLQGPVLAPGQSLTLQCGSDVGYDRFVLYKEGERDFLQRPGQQPQAGLSQANFTLGPVSRSYGGQYRCYGAHNLSSEWSAPSDPLDILITGQIYDTVSLSAQPGPTVASGENVTLLCQSRGYFDTFLLTKEGAAHPPLRLRSMYGAHKYQAEFPMSPVTSAHAGTYRCYGSRSSNPHLLSFPSEPLELMVSGHSGGSSLPPTGPPSTPGLGRYLEVLIGVSVAFVLLLFLLLFLLLRRQRHSKHRTSDQRKTDFQRPAGAAETEPKDRGLLRRSSPAADVQEENLYAAVKDTQSEDRVELDSQSPHDEDPQAVTYAPVKHSSPRREMASPPSSLSGEFLDTKDRQVEEDRQMDTEAAASEASQDVTYAQLHSLTLRRKATEPPPSQEGEPPAEPSIYATLAIH*	.	35	1231	253	3	0	259	0.0951856	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001	0.0028	0.0001	0.0001	0.0014	0.0001	0.0001	0.0011	0.0009	0.0009	0.0014	8.203e-05	0.0007	8.106e-05	0.0002	7.586e-05	0.0002	7.712e-05	0.0002	0.0038	0.0002	0.0002	0.0006	0.0001	0.0001	0.0003	0.0003	0.0005	0	0.0002	0	0.0006	0	0	2.989e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	353.99	43	chr19	54221344	.	C	CCGG	353.99	.	AC=3;AF=0.25;AN=12;BaseQRankSum=1.35;DP=278;ExcessHet=1.383;FS=58.304;MLEAC=3;MLEAF=0.25;MQ=32.77;MQRankSum=3.52;QD=3.03;ReadPosRankSum=-1.842;SOR=5.668	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:41,4:45:45:0|1:54221256_T_C:45,0,1710:54221256	3	0	3	0
chr19	54221348	54221348	-	ACTGAG	exonic	LILRB3	.	nonframeshift insertion	LILRB3:NM_001081450:exon5:c.689_690insCTCAGT:p.Q231_A630delinsSVQGPVLAPGQSLTLQCGSDVGYDRFVLYKEGERDFLQRPGQQPQAGLSQANFTLGPVSRSYGGQYRCYGAHNLSSEWSAPSDPLDILITGQIYDTVSLSAQPGPTVASGENVTLLCQSRGYFDTFLLTKEGAAHPPLRLRSMYGAHKYQAEFPMSPVTSAHAGTYRCYGSRSSNPHLLSFPSEPLELMVSGHSGGSSLPPTGPPSTPGLGRYLEVLIGVSVAFVLLLFLLLFLLLRRQRHSKHRTSDQRKTDFQRPAGAAETEPKDRGLLRRSSPAADVQEENLYAAVKDTQSEDRVELDSQQSPHDEDPQAVTYAPVKHSSPRREMASPPSSLSGEFLDTKDRQVEEDRQMDTEAAASEASQDVTYAQLHSLTLRRKATEPPPSQEGEPPAEPSIYATLAIH*,LILRB3:NM_001320960:exon5:c.689_690insCTCAGT:p.L230delinsLSV,LILRB3:NM_006864:exon5:c.689_690insCTCAGT:p.K230_L604delinsNSVPSLLTLQGPVLAPGQSLTLQCGSDVGYDRFVLYKEGERDFLQRPGQQPQAGLSQANFTLGPVSRSYGGQYRCYGAHNLSSEWSAPSDPLDILITGQIYDTVSLSAQPGPTVASGENVTLLCQSRGYFDTFLLTKEGAAHPPLRLRSMYGAHKYQAEFPMSPVTSAHAGTYRCYGSRSSNPHLLSFPSEPLELMVSGHSGGSSLPPTGPPSTPGLGRYLEVLIGVSVAFVLLLFLLLFLLLRRQRHSKHRTSDQRKTDFQRPAGAAETEPKDRGLLRRSSPAADVQEENLYAAVKDTQSEDRVELDSQSPHDEDPQAVTYAPVKHSSPRREMASPPSSLSGEFLDTKDRQVEEDRQMDTEAAASEASQDVTYAQLHSLTLRRKATEPPPSQEGEPPAEPSIYATLAIH*	.	40	1377	86	2	17	107	0.0316456	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.611e-05	0.0006	2.863e-05	2.352e-05	0.0004	1.911e-05	1.696e-05	0.0002	0.0002	0.0003	0.0004	0	8.523e-05	4.043e-05	0	6.539e-06	3.528e-05	2.565e-05	2.706e-05	0.0007	0	5.539e-05	7.634e-05	8.32e-06	5.26e-06	2.024e-05	1.061e-05	7.634e-05	0	0	0	0	0	0	1.488e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	143.66	42	chr19	54221348	.	C	CACTGAG	143.66	.	AC=2;AF=0.167;AN=12;BaseQRankSum=0.938;DP=272;ExcessHet=1.383;FS=41.196;MLEAC=2;MLEAF=0.167;MQ=33.25;MQRankSum=3.07;QD=1.32;ReadPosRankSum=-2.426;SOR=4.973	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:38,3:41:11:0|1:54221256_T_C:11,0,1587:54221256	4	0	2	0
chr19	55231820	55231820	C	T	exonic	PPP6R1	.	nonsynonymous SNV	PPP6R1:NM_014931:exon19:c.G2288A:p.R763H	.	415	1104	3	0	0	3	0.00135685	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009	0.00340228199509	0.0003	.	0.0004	0	0	0	0	0.0005	0	0.0020	0.0001811	28	154602	rs61735026	0.0002	0.0002	0.0001	0.0002	0.0013	0.0001	0.0001	0.0011	0.0010	0	3.745e-05	0.0018	0.0002	0	0.0009	6.52e-05	0.0003	0.0013	0.0001	0.0001	0.0001	0.0001	0.0012	8.176e-05	6.731e-05	0.0005	0.0004	0	0	0	0.0020	0	0	0.0032	2.941e-05	0.0014	0.0012	0.375	0.11370	T	0.132	0.34477	T	0.0	0.02946	B	0.0	0.01387	B	0.000195	0.00507	N	3.509740	1	0.08975	N	-1.04	0.01097	N	0.99	0.41750	T	-0.33	0.12472	N	0.108	0.11340	-1.0234	0.22606	T	0.042	0.18035	T	10	0.0046245456	0.00096	T	0.003402	0.07633	T	0.009	0.00846	.	.	0.102598925029	0.09809	0.1474556375075937	0.14667	0.0647928516065	0.07235	0.378384649754	0.22027	T	0.006338	0.05774	T	-0.706123	0.00034	T	-0.827606	0.01305	T	0.018925175408884	0.00602	T	0.507449	0.16094	T	0.00942339	0.00002	0.018096374	0.00046	0.00942339	0.00002	0.018096374	0.00046	-4.03	0.24251	T	.	.	0.066	0.02200	B	.;.	.;.	-0.563038	0.01676	0.120	0.87641240266480358	0.17374	0.03004	0.07870	N	AEFDGBCI	0.033518	0.03996	N	-1.98989122116413	0.00222	0.0095321	-2.08092177248893	0.00205	0.009027603	0.999999370510179	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	3.91	-7.83	0.01065	-2.645000	0.00934	-2.588000	0.03576	-1.654000	0.00822	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0896:0.2774:0.4145:0.2184	4.094	0.09457	988	0.01987	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.004049	0.005155	0.002732	0.000000	0.000000	0.025862	0.003086	0.007576	0.08333	758.83	38	chr19	55231820	.	C	T	758.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.337;DP=236;ExcessHet=0;FS=5.768;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.8;ReadPosRankSum=1.53;SOR=1.644	GT:AD:DP:GQ:PL	0/1:25,30:55:99:769,0,602	5	0	1	0
chr19	55615134	55615145	GCGGCGGCGGCC	-	exonic	ZNF865	.	nonframeshift deletion	ZNF865:NM_001195605:exon2:c.1516_1527del:p.A509_A512del	.	450	1070	2	0	0	2	0.000933707	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs1177439940	0.0010	0.0008	0.0010	0.0009	0.0027	0.0009	0.0009	0.0017	0.0014	0.0002	0.0027	0.0015	0	0.0001	0.0008	0.0010	0.0011	0.0005	0.0008	0.0008	0.0008	0.0008	0.0028	0.0007	0.0006	0.0021	0.0019	0.0004	0	0.0028	0.0009	0.0004	0.0002	0	0.0008	0.0005	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	206.83	33	chr19	55615133	.	GGCGGCGGCGGCC	G	206.83	.	AC=2;AF=0.2;AN=10;DP=82;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.2;MQ=60;QD=23.65;SOR=1.022	GT:AD:DP:GQ:PL	1/1:0,5:5:15:225,15,0	4	1	0	1
chr19	57701723	57701723	C	T	exonic	ZNF154	.	nonsynonymous SNV	ZNF154:NM_001085384:exon3:c.G1226A:p.G409E	.	424	1092	6	0	0	6	0.00273973	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.085	0.0202073957365	7.7e-05	.	0.0004	0	8.64e-05	0	0.0002	0.0002	0.0011	0.0018	0.0002781	43	154602	rs200045380	0.0003	0.0003	0.0002	0.0003	0.0017	0.0003	0.0002	0.0014	0.0014	5.974e-05	4.472e-05	3.826e-05	0	0.0002	0.0014	0.0002	0.0001	0.0017	0.0002	0.0002	0.0002	0.0003	0.0025	0.0002	0.0001	0.0014	0.0011	2.405e-05	0	6.533e-05	0.0003	0	0	0.0034	0.0003	0.0005	0.0025	0.001	0.78490	D	0.002	0.79402	D	1.0	0.90584	D	0.995	0.83170	D	.	.	.	.	0.740766	0.29737	N	1.975	0.53506	M	4.74	0.01604	T	-7.42	0.94814	D	0.353	0.39457	-1.1466	0.01130	T	0.021	0.08686	T	9	0.05032745	0.04748	T	0.020207	0.42757	T	0.085	0.24743	.	.	0.467501455318	0.46379	0.05458934458496622	0.05400	0.561225617221	0.52626	0.472633779049	0.35043	T	0.051971	0.29028	T	-0.422674	0.01645	T	-0.386702	0.34939	T	0.268547485065674	0.23685	T	.	.	.	0.6805128	0.76997	0.6098999	0.77309	0.6805128	0.76998	0.6098999	0.77310	-9.169	0.68778	D	.	.	0.885	0.81789	P	.	.	2.737218	0.35844	20.0	0.99684453000077045	0.79507	0.73512	0.35958	D	AEFDBHCI	0.323209	0.42547	N	0.375228211808428	0.60081	4.193425	0.240122464517026	0.52091	3.386222	0.100950631539283	0.16366	0.67177	0.52595	0	0.653731	0.59785	0	0.702456	0.68683	0	0.491896	0.07777	0	.	.	2.99	2.99	0.33673	1.546000	0.35787	.	.	0.444000	0.21144	0.001000	0.13787	0.000000	0.08366	0.016000	0.10718	0.0:1.0:0.0:0.0	12.174	0.53482	976	0.04745	Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001511	0.000000	0.000000	0.005848	0.000000	0.000000	0.000000	0.003788	0.08333	1502.83	33	chr19	57701723	.	C	T	1502.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.547;DP=284;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.54;ReadPosRankSum=0.796;SOR=0.655	GT:AD:DP:GQ:PL	0/1:49,62:111:99:1513,0,1231	5	0	1	0
chr19	57874346	57874346	T	G	exonic	ZNF814	.	nonsynonymous SNV	ZNF814:NM_001144989:exon3:c.A1044C:p.E348D	.	428	1091	2	0	1	3	0.000915751	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.019	0.000842017374802	.	.	.	.	.	.	.	.	.	.	0.0001537	4	26028	rs1170651881	1.178e-05	1.71e-05	8.265e-06	1.535e-05	0.0002	7.18e-06	5.87e-06	5.81e-06	4.59e-06	0	2.39e-05	0	2.569e-05	1.907e-05	0.0002	1.089e-05	0	1.19e-05	6.585e-05	0.0001	6.438e-05	6.74e-05	0.0002	3.524e-05	2.622e-05	3.254e-05	1.918e-05	9.671e-05	0	6.558e-05	0	0.0002	0.0002	0	2.943e-05	0	0	0.046	0.40573	D	0.003	0.76473	D	0.013	0.16609	B	0.009	0.14300	B	.	.	.	.	0.999954	0.19072	N	0.99	0.25021	L	2.21	0.18414	T	0.26	0.04380	N	0.091	0.06990	-0.9971	0.30728	T	0.023	0.09923	T	9	0.053892136	0.05653	T	8.42E-4	0.00713	T	0.019	0.03383	0.479	0.55823	0.0482279557977	0.04254	0.004196378476831598	0.00393	0.0281334713111	0.02891	0.329949259758	0.14926	T	0.019974	0.15809	T	-0.383135	0.02976	T	-0.788123	0.02216	T	0.0824611163883359	0.10300	T	0.0463954	0.00329	T	0.056400675	0.11092	0.050185557	0.07825	0.056400675	0.11092	0.050185557	0.07825	-0.6	0.00648	T	.	.	0.322	0.54631	B	.	.	0.931693	0.13072	9.573	0.97490465022443085	0.34240	0.17345	0.19797	N	AEBHCI	0.135837	0.25630	N	-1.1335400649987	0.06055	0.2777207	-1.18340189432112	0.06186	0.2970036	1.52089203290548E-4	0.05650	0.67177	0.52595	0	0.702456	0.74545	0	0.575934	0.27490	0	0.683762	0.67416	0	.	.	2.01	0.932	0.18591	-1.172000	0.03220	.	.	-0.571000	0.04782	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.152:0.0:0.848	5.802	0.17682	982	0.03397	Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	1426.83	54	chr19	57874346	.	T	G	1426.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.771;DP=440;ExcessHet=0;FS=0.542;MLEAC=1;MLEAF=0.083;MQ=51;MQRankSum=2.77;QD=6.93;ReadPosRankSum=4.05;SOR=0.765	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:137,69:206:99:0|1:57874346_T_G:1437,0,3844:57874346	5	0	1	0
chr20	2815563	2815563	C	T	exonic	C20orf141	.	nonsynonymous SNV	C20orf141:NM_080739:exon2:c.C286T:p.R96C,C20orf141:NM_001256538:exon3:c.C286T:p.R96C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.083	0.00195472033125	.	.	7.545e-05	9.806e-05	0	0.0001	0.0002	9.162e-05	0	0	5.82e-05	9	154602	rs201845024	7.664e-05	7.661e-05	7.625e-05	7.703e-05	0.0003	6.492e-05	6.072e-05	6.094e-05	5.026e-05	0.0001	0	0	2.519e-05	0.0004	0.0003	6.746e-05	9.937e-05	3.479e-05	0.0001	0.0001	0.0002	2.69e-05	0.0001	6.512e-05	5.323e-05	6.805e-05	5.088e-05	7.237e-05	0	0	0	0	0.0004	0	0.0001	0	0	0.003	0.68238	D	0.015	0.61642	D	0.566	0.38464	P	0.172	0.35394	B	.	.	.	.	1	0.18878	N	0.345	0.11182	N	.	.	.	-2.93	0.61284	D	0.259	0.29313	-1.0893	0.05650	T	0.035	0.15247	T	8	0.055222303	0.06002	T	0.001955	0.03482	T	0.083	0.24192	0.277	0.23004	0.143124449307	0.13826	0.06171081472111466	0.06111	0.0564058659771	0.06233	.	.	.	0.087335	0.37919	T	-0.294173	0.09221	T	-0.478189	0.24638	T	0.298706293106079	0.24950	T	0.535646	0.17968	T	0.1628475	0.36388	0.14115542	0.33624	0.1628475	0.36388	0.14115542	0.33623	-5.377	0.40697	T	.	.	0.113	0.22609	B	.;.	.;.	3.191656	0.43364	21.7	0.99269752576083869	0.57525	0.02699	0.07344	N	AEFBI	0.078917	0.15932	N	-0.497874854556559	0.22149	1.180717	-0.523094765207833	0.21527	1.164942	0.999962598256242	0.48965	0.497415	0.19182	0	0.59043	0.45803	0	0.578056	0.29568	0	0.613276	0.41899	0	.	.	4.43	3.4	0.38031	2.708000	0.46820	1.486000	0.26855	0.592000	0.32167	0.020000	0.19661	0.005000	0.19230	0.004000	0.06068	0.0:0.8639:0.0:0.1361	6.509	0.21411	516	0.74704	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1667	1663.04	38	chr20	2815563	.	C	T	1663.04	.	AC=2;AF=0.167;AN=12;DP=256;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;QD=31.98;SOR=0.77	GT:AD:DP:GQ:PL	1/1:0,52:52:99:1683,156,0	5	1	0	0
chr20	3165904	3165904	C	T	exonic	LZTS3	.	nonsynonymous SNV	LZTS3:NM_001282533:exon4:c.G916A:p.G306S,LZTS3:NM_001365618:exon4:c.G916A:p.G306S,LZTS3:NM_001367609:exon4:c.G1006A:p.G336S	.	414	1054	49	5	0	59	0.0272266	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.072	.	0.0019	0.00519169	0.0067	0.0006	0.0018	0	0.0007	0.0033	0.0050	0.0314	0.0054333	840	154602	rs140477946	0.0045	0.0044	0.0036	0.0054	0.0297	0.0044	0.0043	0.0288	0.0284	0.0005	0.0014	0.0007	2.52e-05	0.0008	0.0127	0.0030	0.0054	0.0297	0.0025	0.0025	0.0021	0.0030	0.0261	0.0023	0.0022	0.0224	0.0210	0.0006	0	0.0014	0.0009	0	0.0004	0.0034	0.0029	0.0043	0.0261	0.52	0.07259	T	0.373	0.16425	T	0.689	0.44725	P	0.111	0.41090	B	0.004405	0.33773	N	0.288136	0.56611	0.31217	N	1.04	0.26193	L	0.89	0.45636	T	-0.13	0.08971	N	0.349	0.46368	-1.0386	0.17740	T	0.047	0.20156	T	10	0.004008025	0.00077	T	.	.	.	0.072	0.21020	.	.	0.171220215726	0.16700	0.5876594097079127	0.58695	0.678647379448	0.59893	0.486045897007	0.36891	T	0.006359	0.05794	T	-0.470693	0.00841	T	-0.427265	0.30247	T	0.00899952433187727	0.00113	T	0.858514	0.54939	D	0.0542011	0.10366	0.062347006	0.12184	0.0542011	0.10365	0.062347006	0.12183	-4.464	0.30414	T	.	.	0.072	0.10400	B	.;.;.;.	.;.;.;.	3.087624	0.41560	21.4	0.99841557339104448	0.92229	0.96822	0.71126	D	AEFDBI	0.413603	0.48321	N	-0.0781342619656111	0.38352	2.244978	0.0820102447336558	0.43643	2.661935	0.999937307179673	0.46732	0.695654	0.57023	0	0.550933	0.16991	0	0.723109	0.80598	0	0.505526	0.08623	0	.	.	5.44	5.44	0.79348	1.929000	0.39744	7.620000	0.62269	0.589000	0.31548	0.999000	0.42656	1.000000	0.68203	0.931000	0.46843	0.0:0.792:0.0:0.208	7.086	0.24438	670	0.60992	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.011078	0.000000	0.005435	0.011696	0.000000	0.043103	0.003049	0.034091	0.1667	2868.04	34	chr20	3165904	.	C	T	2868.04	.	AC=2;AF=0.167;AN=12;DP=322;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;QD=32.97;SOR=1.664	GT:AD:DP:GQ:PL	1/1:0,87:87:99:2888,261,0	5	1	0	0
chr20	6050863	6050863	T	C	exonic	LRRN4	.	nonsynonymous SNV	LRRN4:NM_152611:exon3:c.A776G:p.D259G	.	431	1088	3	0	0	3	0.00137678	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.405	0.0714724545891	0.0017	0.00279553	0.0011	0.0055	0.0028	0	0	0.0007	0.0011	0.0001	0.0011643	180	154602	rs145098571	0.0009	0.0009	0.0009	0.0008	0.0066	0.0008	0.0008	0.0054	0.0051	0.0060	0.0031	0.0008	0	0	0.0066	0.0007	0.0020	0.0002	0.0022	0.0022	0.0021	0.0023	0.0049	0.0020	0.0019	0.0044	0.0041	0.0049	0	0.0039	0.0009	0	0	0.0204	0.0007	0.0081	0	0.056	0.38185	T	0.031	0.53788	D	0.268	0.31720	B	0.122	0.32387	B	0.029366	0.25464	N	0.372072	0.653074	0.32982	D	2.585	0.75554	M	-0.22	0.66474	T	-3.83	0.72120	D	0.595	0.61426	-0.2880	0.75320	T	0.343	0.70883	T	10	0.014007658	0.00295	T	0.071472	0.71278	D	0.405	0.71791	.	.	0.648932385495	0.64601	0.6471045725260206	0.64645	1.20322019372	0.80603	0.349931061268	0.17912	T	0.072722	0.34524	T	-0.211123	0.19221	T	-0.0737058	0.65360	T	0.0366379060911569	0.03093	T	0.734827	0.35112	T	0.4203781	0.62117	0.41935232	0.65931	0.4203781	0.62117	0.41935232	0.65931	-11.75	0.83612	D	.	.	0.477	0.63509	A	.	.	3.723076	0.53211	23.3	0.99769610005904108	0.85750	0.91288	0.53232	D	AEFDBI	0.377723	0.46139	N	0.158874407413799	0.49233	3.125979	0.200895601896791	0.49896	3.187597	0.986284508473253	0.31037	0.446893	0.09132	0	0.563428	0.19063	0	0.563428	0.18855	0	0.530356	0.10902	0	.	.	5.68	4.58	0.56077	2.506000	0.45093	4.976000	0.46431	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.932000	0.46971	0.0:0.1464:0.0:0.8536	8.644	0.33158	803	0.44167	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.012085	0.035354	0.021739	0.005848	0.000000	0.000000	0.000000	0.007576	0.1667	3414.04	33	chr20	6050863	.	T	C	3414.04	.	AC=2;AF=0.167;AN=12;DP=283;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;QD=31.32;SOR=1.049	GT:AD:DP:GQ:PL	1/1:0,109:109:99:3434,327,0	5	1	0	0
chr20	11923392	11923392	G	C	exonic	BTBD3	.	nonsynonymous SNV	BTBD3:NM_001282552:exon4:c.G842C:p.G281A,BTBD3:NM_001282554:exon4:c.G842C:p.G281A,BTBD3:NM_014962:exon4:c.G1295C:p.G432A,BTBD3:NM_001282550:exon5:c.G1112C:p.G371A,BTBD3:NM_001282551:exon5:c.G1112C:p.G371A,BTBD3:NM_181443:exon5:c.G1424C:p.G475A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.673	0.0725539401352	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.84e-07	6.84e-07	0	1.375e-06	0.0002	0	0	.	.	0	0	0	0	0	0.0002	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.019	0.53172	D	0.005	0.72224	D	0.999	0.77913	D	0.986	0.76916	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.005	0.85968	M	-1.42	0.80730	T	-4.26	0.76740	D	0.705	0.70878	0.584	0.91692	D	0.739	0.91084	D	10	0.81238675	0.80509	D	0.072554	0.71561	D	0.673	0.87917	0.532	0.64002	0.954215541992	0.95373	0.2547248074967749	0.25386	1.39510571996	0.85073	0.79266166687	0.80847	T	0.263993	0.63572	T	0.277526	0.81104	D	0.16087	0.80860	D	0.991437375545502	0.81729	D	0.989968	0.96869	D	0.72450113	0.79413	0.76231015	0.85957	0.72450113	0.79414	0.76231015	0.85958	-9.769	0.74056	D	.	.	0.539	0.66295	A	.;.;.;.;.;.	.;.;.;.;.;.	5.014454	0.83297	28.0	0.99794509294599487	0.88017	0.97841	0.77530	D	AEFGBCI	0.945456	0.95379	D	1.05395129222265	0.97182	15.71386	1.02289973933423	0.99023	20.318	1.0	0.98316	0.706548	0.73137	0	0.588015	0.36545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	6.02	6.02	0.97559	10.003000	0.99689	11.890000	0.99067	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:1.0:0.0	19.529	0.95212	641	0.64016	.;.;PHR;.;PHR;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1948.83	35	chr20	11923392	.	G	C	1948.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.79;DP=302;ExcessHet=0;FS=6.763;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=15.59;ReadPosRankSum=-0.538;SOR=0.513	GT:AD:DP:GQ:PL	0/1:62,63:125:99:1959,0,1661	5	0	1	0
chr20	17943144	17943144	A	G	exonic	SNX5	.	nonsynonymous SNV	SNX5:NM_001282454:exon12:c.T815C:p.I272T,SNX5:NM_014426:exon12:c.T1130C:p.I377T,SNX5:NM_152227:exon13:c.T1130C:p.I377T	.	513	1005	4	0	0	4	0.0019861	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.217	0.0200137926208	.	.	4.946e-05	0	0	0	0	4.498e-05	0	0.0002	3.88e-05	6	154602	rs771957175	1.921e-05	1.984e-05	2.185e-05	1.654e-05	0.0012	1.332e-05	1.147e-05	0.0006	0.0004	0	0	0	0	0	0.0012	1.263e-05	6.64e-05	3.482e-05	2.628e-05	2.627e-05	2.569e-05	2.689e-05	0.0004	8.14e-06	5.14e-06	7.285e-05	3.027e-05	0	0	6.543e-05	0	0	0	0	1.47e-05	0	0.0004	0.2	0.20381	T	0.362	0.16865	T	0.107	0.26081	B	0.069	0.27757	B	0.000001	0.84330	D	0.091445	0.999999	0.58761	D	2.085	0.57729	M	0.31	0.58613	T	-2.35	0.51968	N	0.605	0.62273	-0.9511	0.40782	T	0.154	0.48516	T	10	0.34560132	0.51531	T	0.020014	0.42512	T	0.217	0.51112	0.441	0.49648	0.683458661421	0.68076	0.3136272676177182	0.31275	0.180933347307	0.20352	0.586977005005	0.51069	T	0.167521	0.51418	T	-0.00639306	0.50770	T	-0.0443057	0.67410	D	0.155340721654081	0.17521	T	0.751425	0.37327	T	0.23597948	0.46442	0.3333776	0.59176	0.23597948	0.46442	0.3333776	0.59175	-6.91	0.53373	T	.	.	0.145	0.32005	B	.;.	.;.	4.179204	0.62902	24.5	0.98862331539031822	0.47493	0.98886	0.88171	D	AEFBCI	0.919108	0.88914	D	0.115003308989455	0.47163	2.945848	0.304663916559807	0.55813	3.744159	0.999999999995495	0.74766	0.722319	0.85440	0	0.698795	0.70079	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.49	5.49	0.81022	9.098000	0.93552	9.388000	0.80560	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	1.0:0.0:0.0:0.0	15.889	0.79069	780	0.47616	Sorting nexin Vps5-like, C-terminal;Sorting nexin Vps5-like, C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000529	0.000000	0.000000	0.000000	0.000000	0.000000	0.003247	0.000000	0.08333	1235.83	42	chr20	17943144	.	A	G	1235.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.676;DP=322;ExcessHet=0;FS=1.434;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=9.51;ReadPosRankSum=-0.606;SOR=0.525	GT:AD:DP:GQ:PL	0/1:79,51:130:99:1246,0,2103	5	0	1	0
chr20	34852409	34852409	G	C	exonic	GGT7	.	nonsynonymous SNV	GGT7:NM_001351702:exon11:c.C1449G:p.D483E,GGT7:NM_178026:exon11:c.C1449G:p.D483E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.296	0.0112495980913	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.422e-06	6.02e-05	1.362e-06	5.502e-06	2.988e-05	1e-06	7.3e-07	8.4e-07	5.7e-07	2.988e-05	0	0	0	0	0	3.599e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.089	0.32141	T	0.012	0.63918	D	0.994	0.66517	D	0.926	0.66095	D	0.000000	0.84330	D	0.000000	0.999841	0.49770	D	2.215	0.62545	M	1.98	0.21865	T	-1.73	0.41046	N	0.499	0.53181	-1.0404	0.17192	T	0.128	0.43585	T	10	0.5826987	0.65938	D	0.01125	0.28682	T	0.296	0.61616	0.689	0.82653	0.228066490088	0.22430	0.82941257752094	0.82899	0.68760950996	0.60391	0.738000631332	0.72679	T	0.103498	0.41220	T	0.0708259	0.60949	D	-0.13604	0.60460	T	0.885277701002196	0.53559	D	0.910309	0.68205	D	0.41792053	0.61953	0.41181666	0.65402	0.41792053	0.61953	0.41181666	0.65402	-4.579	0.31907	T	.	.	0.782	0.76474	P	.	.	5.638633	0.92727	33	0.99733629509333355	0.82975	0.97405	0.74540	D	AEFDBI	0.720442	0.67100	D	0.820974805350757	0.87399	9.204616	0.835720227276759	0.92153	11.26631	0.92021159446374	0.26625	0.732398	0.92422	0	0.709663	0.81188	0	0.743671	0.96076	0	0.567892	0.33627	0	.	.	6.17	6.17	0.99707	4.488000	0.60028	9.966000	0.82830	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0685:0.0:0.9315:0.0	13.996	0.63912	522	0.74218	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3333	714.03	118	chr20	34852409	.	G	C	714.03	.	AC=4;AF=0.333;AN=12;BaseQRankSum=-2.086;DP=729;ExcessHet=3.1439;FS=260.158;MLEAC=4;MLEAF=0.333;MQ=60;MQRankSum=0;QD=1.68;ReadPosRankSum=1.58;SOR=9.773	GT:AD:DP:GQ:PL	0/1:53,28:88:99:174,0,657	2	0	4	0
chr20	34942978	34942978	G	A	exonic	GSS	.	nonsynonymous SNV	GSS:NM_000178:exon4:c.C304T:p.R102C,GSS:NM_001322494:exon4:c.C304T:p.R102C,GSS:NM_001322495:exon4:c.C304T:p.R102C	Glutathione synthetase deficiency, Autosomal recessive;Hemolytic anemia due to glutathione synthetase deficiency, Autosomal recessive	1	1520	1	0	0	1	0.000328839	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.702	0.109938617901	7.7e-05	.	9.974e-06	0	0	0	0	1.772e-05	0	0	6.5e-06	1	154602	rs373345937	2.603e-05	2.873e-05	2.181e-05	3.03e-05	3.497e-05	1.935e-05	1.695e-05	2.119e-05	1.864e-05	2.988e-05	0	0	0	0	0	2.971e-05	1.658e-05	3.497e-05	1.971e-05	1.97e-05	1.285e-05	2.689e-05	4.825e-05	5.24e-06	2.45e-06	8e-06	2.99e-06	4.825e-05	0	0	0	0	0	0	1.47e-05	0	0	0.009	0.57480	D	0.055	0.46862	T	0.156	0.28196	B	0.014	0.16862	B	0.000037	0.55875	D	0.190982	1	0.81001	D	3.025	0.86340	M	-3.05	0.92407	D	-4.36	0.76980	D	0.54	0.56748	0.481	0.90279	D	0.744	0.91245	D	10	0.7476995	0.75409	D	0.109939	0.78711	D	0.702	0.89284	.	.	0.936997594517	0.93635	0.7104429307262158	0.70986	0.7935012027	0.65923	0.234681844711	0.02332	T	0.960759	0.99494	D	0.218762	0.75658	D	0.07646	0.75341	D	0.969460487365723	0.68599	D	0.969503	0.90777	D	0.6092957	0.73190	0.3092043	0.56936	0.6092957	0.73191	0.3092043	0.56935	-9.154	0.68683	D	0.8152850573208398	0.88940	0.119	0.25592	B	.;.;.;.;.;.	.;.;.;.;.;.	4.257236	0.64674	24.7	0.99719330286393937	0.81914	0.97177	0.73143	D	AEFDGBI	0.742053	0.68579	D	0.155853080184261	0.49090	3.113277	0.242651192508241	0.52232	3.399471	0.999953036586828	0.48110	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.33	4.37	0.51830	6.331000	0.72885	4.582000	0.43923	0.676000	0.76740	0.963000	0.33788	0.969000	0.29651	0.941000	0.48210	0.0:0.0:0.8481:0.1519	14.060	0.64316	.	.	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	723.83	33	chr20	34942978	.	G	A	723.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.45;DP=239;ExcessHet=0;FS=4.895;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.14;ReadPosRankSum=-1.747;SOR=0.909	GT:AD:DP:GQ:PL	0/1:34,31:65:99:734,0,737	5	0	1	0
chr20	45876767	45876767	C	T	exonic	ZSWIM3	.	nonsynonymous SNV	ZSWIM3:NM_080752:exon2:c.C209T:p.T70M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.007	0.00480321930846	.	0.000599042	0.0006	0	0	0	0	1.502e-05	0	0.0043	0.0004851	75	154602	rs573326472	0.0002	0.0002	0.0001	0.0004	0.0038	0.0002	0.0002	0.0035	0.0033	2.987e-05	0	0	0	1.872e-05	0	1.709e-05	0.0002	0.0038	0.0001	0.0001	6.424e-05	0.0002	0.0041	9.741e-05	8.255e-05	0.0027	0.0023	0	0	0	0	0	0	0	2.94e-05	0	0.0041	0.013	0.53900	D	0.055	0.46862	T	0.865	0.47557	P	0.131	0.32951	B	0.299983	0.14615	N	0.671682	1	0.08975	N	2.08	0.57402	M	1.9	0.23486	T	0.05	0.06369	N	0.24	0.27077	-1.0620	0.11263	T	0.033	0.14247	T	10	0.0035443306	0.00064	T	0.004803	0.12004	T	0.007	0.00512	0.245	0.17984	0.141422826196	0.13715	0.4031961276512099	0.40235	0.367479578391	0.38306	0.363446593285	0.19887	T	0.020088	0.15881	T	-0.538321	0.00343	T	-0.546557	0.17658	T	0.0211275144703937	0.00814	T	0.789321	0.42944	T	0.036704864	0.04566	0.053494483	0.09022	0.036704864	0.04565	0.053494483	0.09021	-4.63	0.32546	T	.	.	0.094	0.14385	B	.	.	2.465282	0.31763	18.84	0.99344700346251558	0.60331	0.05434	0.11308	N	AEFBI	0.042960	0.06730	N	-0.533127670415854	0.21016	1.112209	-0.617984099759298	0.19030	1.019303	0.992284832802798	0.32785	0.615465	0.37627	0	0.546412	0.12157	0	0.658983	0.55881	0	0.491896	0.07777	0	.	.	5.36	2.07	0.26004	0.588000	0.23626	1.369000	0.25941	0.599000	0.40250	0.061000	0.21800	0.325000	0.24344	0.379000	0.26312	0.4467:0.4625:0.0:0.0908	6.316	0.20399	744	0.52588	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.1667	2959.04	35	chr20	45876767	.	C	T	2959.04	.	AC=2;AF=0.167;AN=12;DP=267;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;QD=32.52;SOR=1.46	GT:AD:DP:GQ:PL	1/1:0,91:91:99:2979,273,0	5	1	0	0
chr20	45886756	45886756	G	A	exonic	SPATA25	.	stopgain	SPATA25:NM_080608:exon2:c.C445T:p.Q149X	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000399361	0.0002	0	0	0	0	0	0	0.0017	0.000194	30	154602	rs541634704	8.62e-05	8.619e-05	2.995e-05	0.0001	0.0014	7.354e-05	6.904e-05	0.0012	0.0012	0	0	0	0	0	0	0	3.311e-05	0.0014	4.595e-05	4.593e-05	2.569e-05	6.711e-05	0.0014	2.107e-05	1.526e-05	0.0007	0.0005	0	0	0	0	0	0	0	0	0	0.0014	.	.	.	.	.	.	.	.	.	.	.	.	0.000083	0.51296	D	0.000000	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.235	0.26475	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.201729	0.74054	D	0.481615	0.94238	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive	High	8.672952	0.97867	38	0.99732591896208422	0.82904	0.87940	0.47658	D	AEFDBHCI	0.081015	0.16388	N	1.06441645208058	0.97417	16.09302	0.904351554665136	0.95760	13.93964	0.999999800683877	0.74766	0.660377	0.49826	0	0.550933	0.16991	0	0.696353	0.63694	0	0.711	0.71501	0	.	.	5.12	5.12	0.69459	1.712000	0.37560	8.731000	0.78185	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.968000	0.53726	0.0933:0.0:0.9067:0.0	9.476	0.38037	758	0.50837	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1667	2540.04	33	chr20	45886756	.	G	A	2540.04	.	AC=2;AF=0.167;AN=12;DP=260;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;QD=31.75;SOR=1.096	GT:AD:DP:GQ:PL	1/1:0,80:80:99:2560,240,0	5	1	0	0
chr20	58669310	58669310	G	A	exonic	STX16	.	nonsynonymous SNV	STX16:NM_001134772:exon4:c.G401A:p.R134H,STX16:NM_003763:exon4:c.G350A:p.R117H,STX16:NM_001001433:exon5:c.G413A:p.R138H,STX16:NM_001134773:exon5:c.G362A:p.R121H,STX16:NM_001204868:exon6:c.G254A:p.R85H	Pseudohypoparathyroidism, type IB, Autosomal dominant	5	1515	2	0	0	2	0.000659631	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.323	0.0681031549003	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1334454753	2.056e-06	2.736e-06	2.728e-06	1.377e-06	2.699e-06	5.5e-07	1.5e-07	7.2e-07	2e-07	0	0	0	0	0	0	2.699e-06	0	0	6.574e-06	6.567e-06	1.285e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.008	0.61437	D	0.087	0.55759	T	0.967	0.70673	D	0.445	0.72444	B	0.000001	0.62929	U	0.000000	1	0.81001	D	2.7	0.79018	M	2.24	0.17923	T	-2.99	0.62343	D	0.69	0.69825	-0.8199	0.53940	T	0.160	0.49413	T	10	0.75052375	0.75603	D	0.068103	0.70356	D	0.323	0.64522	0.531	0.63855	0.622170985595	0.61910	0.4253428016723434	0.42451	1.10527459475	0.77874	0.807765185833	0.83149	D	0.282659	0.65540	T	0.0942764	0.63668	D	-0.102355	0.63216	T	0.996785283088684	0.90073	D	0.983802	0.95317	D	0.29934064	0.52845	0.2013817	0.44115	0.29934064	0.52845	0.2013817	0.44114	-7.853	0.62774	D	0.43569592227828735	0.52208	0.159	0.36113	B	.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.	5.387318	0.90267	31	0.99949013850374158	0.99931	0.99042	0.90377	D	AEFDGBCIJ	0.912935	0.87424	D	0.891692914619408	0.91346	10.83759	0.881924674931991	0.94736	12.99932	1.0	0.98316	0.722319	0.85440	0	0.698795	0.70079	0	0.504199	0.09095	0	0.714379	0.83352	0	.	.	5.72	5.72	0.89380	9.519000	0.97069	9.861000	0.82057	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.979000	0.57723	0.0:0.0:1.0:0.0	18.853	0.92209	963	0.08280	.;.;.;Syntaxin, N-terminal domain;.;.;Syntaxin, N-terminal domain;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1371.83	86	chr20	58669310	.	G	A	1371.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.05;DP=407;ExcessHet=0;FS=1.619;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.72;ReadPosRankSum=1.03;SOR=0.488	GT:AD:DP:GQ:PL	0/1:50,50:100:99:1382,0,1284	5	0	1	0
chr20	62326876	62326876	C	T	exonic	LAMA5	.	nonsynonymous SNV	LAMA5:NM_005560:exon39:c.G5203A:p.V1735M	.	414	1102	6	0	0	6	0.00271493	.	.	.	728780	LAMA5-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.422	0.104077176245	0.0067	0.00139776	0.0053	0.0015	0.0056	0	0.0048	0.0073	0.0056	0.0026	0.0052522	812	154602	rs45496002	0.0074	0.0074	0.0074	0.0073	0.0085	0.0072	0.0072	0.0084	0.0083	0.0010	0.0044	0.0041	2.522e-05	0.0054	0.0014	0.0085	0.0068	0.0025	0.0053	0.0053	0.0055	0.0052	0.0092	0.0050	0.0049	0.0086	0.0084	0.0012	0.0011	0.0036	0.0058	0.0002	0.0038	0.0034	0.0092	0.0028	0.0027	0.002	0.72154	D	0.001	0.83351	D	1.0	0.90584	D	0.992	0.80445	D	0.000506	0.43753	D	0.199169	0.99998	0.54805	D	3.91	0.96185	H	0.59	0.53943	T	-2.42	0.53096	N	0.501	0.53357	-0.1358	0.79266	T	0.329	0.69724	T	10	0.014198393	0.00299	T	0.104077	0.77846	D	0.422	0.73078	.	.	0.694235987891	0.69160	0.6043040046195761	0.60361	.	.	0.574169158936	0.49266	T	0.102297	0.40989	T	-0.343552	0.05145	T	-0.254589	0.49363	T	0.108499092748908	0.13268	T	0.920508	0.71260	D	0.5291229	0.68780	0.4694742	0.69231	0.5291229	0.68781	0.4694742	0.69232	-9.666	0.71888	D	.	.	0.36	0.57211	A	.	.	3.777379	0.54290	23.5	0.99853624567196342	0.93279	0.76136	0.37319	D	AEFGBHCI	0.336084	0.43431	N	0.568632276339805	0.71221	5.618392	0.430952153302505	0.63502	4.58528	0.999973373697213	0.50053	0.706548	0.73137	0	0.588066	0.40923	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.12	5.12	0.69459	1.586000	0.36221	4.661000	0.44237	0.599000	0.40250	0.858000	0.30578	1.000000	0.68203	0.147000	0.20199	0.0:0.92:0.0:0.08	12.036	0.52718	779	0.47767	Laminin IV|Laminin IV|Laminin IV	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.001007	0.000000	0.001359	0.000000	0.000000	0.000000	0.003049	0.000000	0.08333	962.83	35	chr20	62326876	.	C	T	962.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.938;DP=266;ExcessHet=0;FS=2.755;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.47;ReadPosRankSum=-1.237;SOR=0.452	GT:AD:DP:GQ:PL	0/1:52,40:92:99:973,0,1407	5	0	1	0
chr21	13610400	13610400	A	G	exonic	POTED	.	nonsynonymous SNV	POTED:NM_174981:exon1:c.A172G:p.R58G	.	422	954	132	14	0	160	0.0773694	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.070	0.00147797239572	.	.	.	.	.	.	.	.	.	.	0.0066851	174	26028	rs200814491	2.492e-05	8.633e-05	1.821e-05	3.157e-05	3.472e-05	1.631e-05	1.393e-05	1.38e-05	1.117e-05	0	0	0	0	5.248e-05	0	2.332e-05	5.701e-05	3.472e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	0.462	0.36386	P	0.152	0.34249	B	.	.	.	.	1	0.08975	N	2.175	0.60977	M	1.03	0.40469	T	-1.15	0.29525	N	0.041	0.03841	-1.0119	0.26322	T	0.093	0.35390	T	7	0.071079314	0.10429	T	0.001478	0.02267	T	0.070	0.20419	0.258	0.20002	0.043077524339	0.03247	0.05236624517845099	0.05178	.	.	0.467012226582	0.34271	T	0.021951	0.17006	T	-0.340339	0.05364	T	-0.423521	0.30672	T	0.131828456292153	0.15550	T	0.684632	0.29972	T	0.15094694	0.34338	0.18774164	0.42023	0.15094694	0.34338	0.18774164	0.42022	-8.467	0.64211	D	.	.	0.120	0.28578	B	.;.	.;.	1.858254	0.23606	16.08	0.93571275912320728	0.23413	0.00040	0.00335	N	AEFI	0.026967	0.02121	N	-0.883970604830688	0.11224	0.5404707	-1.10778252144765	0.07550	0.3677109	1.09839826763181E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	.	.	.	0.019000	0.13337	.	.	0.134000	0.17662	0.261000	0.24959	0.000000	0.08366	0.014000	0.10232	.	.	.	.	.	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	2358.83	38	chr21	13610400	.	A	G	2358.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.064;DP=410;ExcessHet=0;FS=1.618;MLEAC=1;MLEAF=0.083;MQ=57.57;MQRankSum=-0.834;QD=10.39;ReadPosRankSum=0.381;SOR=0.564	GT:AD:DP:GQ:PL	0/1:123,104:227:99:2369,0,3229	5	0	1	0
chr21	13610565	13610565	G	A	exonic	POTED	.	nonsynonymous SNV	POTED:NM_174981:exon1:c.G337A:p.G113S	.	444	172	461	445	0	1351	0.79705	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.029	0.00277741158105	.	.	.	.	.	.	.	.	.	.	0.033169	5128	154602	rs6517869	1.401e-05	6.993e-05	3.992e-06	2.407e-05	6.081e-05	8.13e-06	6.36e-06	1.007e-05	3.77e-06	0	6.081e-05	0	0	5.033e-05	0	8.892e-06	2.573e-05	3.286e-05	0	0.0001	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.153	0.24372	T	0.043	0.49942	D	1.0	0.90584	D	0.937	0.67262	D	.	.	.	.	1	0.08975	N	1.15	0.29295	L	1.66	0.27486	T	-1.24	0.31375	N	0.08	0.05542	-0.9968	0.30810	T	0.095	0.35818	T	8	0.068237185	0.09622	T	0.002777	0.05781	T	0.029	0.06676	0.202	0.11659	0.0934897674506	0.08844	0.04415967261073172	0.04359	.	.	0.431079089642	0.29356	T	0.012796	0.11182	T	-0.31698	0.07148	T	-0.693096	0.06212	T	0.036694748014754	0.03102	T	0.636336	0.25008	T	0.046982475	0.07955	0.08034204	0.18165	0.046982475	0.07954	0.08034204	0.18164	-7.591	0.58248	D	.	.	0.092	0.21163	B	.;.	.;.	1.490668	0.19177	14.13	0.9114633486319289	0.20400	0.00123	0.00769	N	AEFI	0.021764	0.01007	N	-0.750059816202474	0.14632	0.7304896	-1.05968458506513	0.08505	0.4185625	1.33632449358699E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.418	-0.732	0.10585	-1.777000	0.01877	.	.	0.323000	0.19410	0.000000	0.06391	0.000000	0.08366	0.007000	0.07825	.	.	.	.	.	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.3333	11917.9	38	chr21	13610565	.	G	A	11917.9	.	AC=4;AF=0.333;AN=12;BaseQRankSum=3.59;DP=831;ExcessHet=0.1336;FS=1.126;MLEAC=4;MLEAF=0.333;MQ=54.23;MQRankSum=-8.187;QD=17.03;ReadPosRankSum=1.01;SOR=0.811	GT:AD:DP:GQ:PL	1/1:0,218:218:99:6790,654,0	3	1	2	0
chr21	13610631	13610631	A	G	exonic	POTED	.	nonsynonymous SNV	POTED:NM_174981:exon1:c.A403G:p.I135V	.	439	188	453	442	0	1337	0.780502	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.027	0.00179256116657	.	.	.	.	.	.	.	.	.	.	0.175004	4555	26028	rs6517870	0.0002	0.0006	0.0002	0.0002	0.0010	0.0002	0.0002	0.0007	0.0006	0	0.0010	0	0	0.0019	0	0.0001	7.755e-05	3.326e-05	0.0002	0.0008	0.0001	0.0003	0.0011	0.0001	0.0001	0.0006	0.0005	0	0	0.0011	0	0	0.0004	0	8.695e-05	0	0	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	P	0.955	0.23872	L	0.69	0.51714	T	0.21	0.04776	N	0.013	0.00142	-1.0463	0.15447	T	0.001	0.00408	T	8	0.01186794	0.00257	T	0.001793	0.03063	T	0.027	0.05988	.	.	0.043077524339	0.03247	0.057245171207421994	0.05665	.	.	0.60823392868	0.54066	T	0.003659	0.03070	T	-0.325257	0.06477	T	-0.704986	0.05557	T	0.0231726184936854	0.01044	T	0.405359	0.11777	T	0.018582096	0.00380	0.026746769	0.00781	0.018582096	0.00379	0.026746769	0.00780	-2.614	0.06610	T	.	.	0.071	0.06571	B	.;.	.;.	-1.090417	0.00652	0.018	0.18791234627756773	0.00606	0.00044	0.00357	N	AEFI	0.015589	0.00305	N	-2.40962434727351	0.00026	0.001112248	-2.38906535767928	0.00042	0.001829696	4.90101459551143E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.29	-2.58	0.05866	-2.318000	0.01202	.	.	-2.102000	0.00394	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.5692:0.0:0.4308:0.0	5.628	0.16773	.	.	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.012405	0.000000	0.013369	0.016129	0.000000	0.046512	0.000000	0.010417	0.3333	8563.94	38	chr21	13610631	.	A	G	8563.94	.	AC=4;AF=0.333;AN=12;BaseQRankSum=0.751;DP=725;ExcessHet=0.1336;FS=1.118;MLEAC=4;MLEAF=0.333;MQ=50.06;MQRankSum=-12.91;QD=14.42;ReadPosRankSum=1.09;SOR=0.811	GT:AD:DP:GQ:PL	1/1:0,173:173:99:5152,519,0	3	1	2	0
chr21	13641414	13641414	A	G	exonic	POTED	.	nonsynonymous SNV	POTED:NM_174981:exon11:c.A1603G:p.M535V	.	518	268	324	412	0	1148	0.68171	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.056	0.000925184405604	.	.	.	.	.	.	.	.	.	.	0.0332984	5148	154602	rs9980783	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.215	0.19293	T	0.265	0.22694	T	0.053	0.22573	B	0.007	0.12992	B	.	.	.	.	0.999995	0.08975	N	1.295	0.32453	L	2.51	0.14284	T	-0.92	0.24676	N	0.112	0.09914	-0.9460	0.41648	T	0.021	0.08870	T	9	0.058576673	0.06907	T	9.25E-4	0.00889	T	0.056	0.15993	0.204	0.11936	0.0675242888579	0.06100	0.017058676146940573	0.01660	.	.	0.862693071365	0.91508	D	0.009423	0.08576	T	-0.65755	0.00065	T	-0.573482	0.15131	T	0.0619566306163236	0.07473	T	0.571043	0.20346	T	0.060948554	0.12567	0.09257506	0.21825	0.060948554	0.12567	0.09257506	0.21824	-3.238	0.12951	T	.	.	0.097	0.15788	B	.	.	0.712273	0.10810	7.493	0.4975947206577841	0.04266	0.04450	0.10053	N	AEFI	0.042990	0.06739	N	-0.991022779855283	0.08795	0.4137322	-1.03117548479235	0.09104	0.4510756	2.3450725238948E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	2.1	2.1	0.26226	1.579000	0.36145	.	.	0.351000	0.19951	0.307000	0.25387	0.000000	0.08366	0.054000	0.15518	0.8091:0.0:0.1909:0.0	3.884	0.08596	.	.	CCDC144C-like, coiled-coil domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3333	4425.94	38	chr21	13641414	.	A	G	4425.94	.	AC=4;AF=0.333;AN=12;BaseQRankSum=0.306;DP=378;ExcessHet=0.1336;FS=4.391;MLEAC=4;MLEAF=0.333;MQ=57.89;MQRankSum=-0.838;QD=16.7;ReadPosRankSum=0.697;SOR=0.485	GT:AD:DP:GQ:PL	1/1:0,100:100:99:2810,300,0	3	1	2	0
chr21	33252732	33252732	C	G	exonic	IFNAR2	.	nonsynonymous SNV	IFNAR2:NM_000874:exon7:c.C611G:p.T204R,IFNAR2:NM_001289125:exon7:c.C611G:p.T204R,IFNAR2:NM_001289126:exon7:c.C611G:p.T204R,IFNAR2:NM_001289128:exon7:c.C611G:p.T204R,IFNAR2:NM_001385054:exon7:c.C611G:p.T204R,IFNAR2:NM_001385055:exon7:c.C611G:p.T204R,IFNAR2:NM_207584:exon7:c.C611G:p.T204R,IFNAR2:NM_207585:exon7:c.C611G:p.T204R	.	2	1414	97	9	0	115	0.0390758	.	.	.	705659	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.101	.	0.0028	0.00479233	0.0051	0.0009	0.0036	0	0.0003	0.0050	0.0110	0.0136	0.0046701	722	154602	rs147496374	0.0035	0.0035	0.0030	0.0040	0.0392	0.0034	0.0034	0.0350	0.0334	0.0010	0.0036	0.0165	0	0.0002	0.0392	0.0025	0.0057	0.0130	0.0039	0.0039	0.0037	0.0041	0.0149	0.0036	0.0035	0.0121	0.0111	0.0005	0.0482	0.0054	0.0190	0	0.0002	0.0753	0.0039	0.0085	0.0149	0.161	0.78490	T	0.003	0.76473	D	1.0	0.90584	D	0.999	0.92359	D	0.425033	0.12822	N	0.738962	0.97282	0.38976	D	2.08	0.57402	M	1.31	0.35405	T	-3.11	0.73267	D	0.477	0.53884	-0.9382	0.42900	T	0.135	0.44875	T	10	0.010730058	0.00238	T	.	.	.	0.300	0.62068	.	.	0.764019764511	0.76186	0.7268006199058705	0.72624	0.299378326129	0.32306	0.459942519665	0.33302	T	0.265189	0.63704	T	-0.383608	0.02956	T	-0.312772	0.43360	T	0.0354205092465154	0.02880	T	0.816118	0.47523	T	0.28101838	0.51146	0.3051472	0.56542	0.29832277	0.52754	0.2683962	0.52706	-5.982	0.54933	T	.	.	0.147	0.43200	B	.;.;.;.;.;.	.;.;.;.;.;.	3.085038	0.41513	21.4	0.99482664130514209	0.66959	0.67555	0.33475	D	AEFBI	0.133793	0.25357	N	0.350668498744144	0.58776	4.051906	0.277183829879017	0.54211	3.586691	0.962429835307799	0.28622	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	4.13	3.23	0.36150	0.371000	0.20182	2.599000	0.33511	0.599000	0.40250	0.990000	0.36992	0.991000	0.31484	0.983000	0.59808	0.0:0.7603:0.2397:0.0	9.699	0.39341	917	0.20147	.;.;Interferon/interleukin receptor domain;.;Interferon/interleukin receptor domain;Interferon/interleukin receptor domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.040282	0.015152	0.033967	0.061404	0.100000	0.094828	0.033537	0.037879	0.25	3014.03	105	chr21	33252732	.	C	G	3014.03	.	AC=3;AF=0.25;AN=12;BaseQRankSum=1.43;DP=378;ExcessHet=1.383;FS=3.376;MLEAC=3;MLEAF=0.25;MQ=60;MQRankSum=0;QD=11.16;ReadPosRankSum=-0.731;SOR=0.518	GT:AD:DP:GQ:PL	0/1:44,32:76:99:740,0,1006	3	0	3	0
chr21	36135483	36135483	T	-	splicing	CBR3	NM_001236:exon1:c.289+2T>-	.	.	.	417	1104	1	0	0	1	0.000452694	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	877.79	37	chr21	36135482	.	GT	G	877.79	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.8;DP=259;ExcessHet=0;FS=2.665;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=17.21;ReadPosRankSum=2.68;SOR=1.179	GT:AD:DP:GQ:PL	0/1:25,26:51:99:888,0,800	5	0	1	0
chr21	44637708	44637723	TGTCTGCTGTGTGCCC	0	exonic	KRTAP10-10	.	.	.	.	451	251	178	15	627	835	0.292958	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4167	2818.02	35	chr21	44637708	.	TGTCTGCTGTGTGCCC	*	2818.02	.	AC=5;AF=0.417;AN=12;DP=1123;ExcessHet=0.095;FS=2.852;MLEAC=5;MLEAF=0.417;MQ=59.79;QD=3.11;SOR=0.494	GT:AD:DP:GQ:PL	1/0:0,163:268:99:8581,3362,2822	2	1	3	0
chr21	45480826	45480826	C	T	exonic	COL18A1	.	nonsynonymous SNV	COL18A1:NM_030582:exon12:c.C2119T:p.R707C,COL18A1:NM_130444:exon12:c.C2824T:p.R942C,COL18A1:NM_001379500:exon13:c.C1579T:p.R527C	Knobloch syndrome, type 1, Autosomal recessive	2	1519	0	1	0	2	0.000657895	.	.	.	2002421	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.466	0.228344809109	.	.	9.655e-06	0	0	0	0	0	0	6.628e-05	6.5e-06	1	154602	rs771376510	4.111e-06	5.472e-06	5.454e-06	2.755e-06	2.989e-05	1.48e-06	9.7e-07	3.86e-06	1.44e-06	2.989e-05	2.241e-05	0	0	0	0	1.799e-06	0	2.322e-05	6.573e-06	6.567e-06	1.285e-05	0	2.414e-05	0	0	.	.	2.414e-05	0	0	0	0	0	0	0	0	0	0.022	0.48642	D	0.043	0.53426	D	0.998	0.77913	D	0.738	0.61869	P	0.116357	0.19197	N	0.505114	0.991073	0.24085	N	2.92	0.84325	M	-3.24	0.96957	D	-4.58	0.81755	D	0.474	0.51048	0.579	0.91626	D	0.901	0.96711	D	10	0.74888885	0.75490	D	0.228345	0.88134	D	0.466	0.76156	0.643	0.78010	0.947642779615	0.94709	0.38027983182702546	0.37942	0.38608239833	0.39902	0.498706668615	0.38647	T	0.666627	0.90058	D	0.076339	0.61610	D	-0.0274908	0.68535	D	0.982601642608643	0.74592	D	0.979102	0.92705	D	0.13445292	0.31237	0.13820554	0.33012	0.13445292	0.31237	0.13820554	0.33011	-11.718	0.85137	D	0.5981586611703074	0.66510	0.242	0.48938	B	.;.;.	.;.;.	3.251350	0.44425	21.9	0.99862017796668789	0.94002	0.09789	0.15465	N	AEFDBI	0.139713	0.26140	N	-0.145710041299024	0.35416	2.034053	-0.376658765504761	0.25694	1.414608	0.999942785767055	0.47345	0.706548	0.73137	0	0.588066	0.40923	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	4.04	0.596	0.16678	-0.372000	0.07559	0.509000	0.19063	0.578000	0.29377	0.000000	0.06391	0.023000	0.20922	0.445000	0.27784	0.6017:0.3983:0.0:0.0	9.980	0.40977	641	0.64016	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	647.83	35	chr21	45480826	.	C	T	647.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.447;DP=192;ExcessHet=0;FS=1.157;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.78;ReadPosRankSum=-0.111;SOR=0.739	GT:AD:DP:GQ:PL	0/1:17,30:47:99:658,0,324	5	0	1	0
chr22	20405671	20405671	C	A	exonic	ZNF74	.	nonsynonymous SNV	ZNF74:NM_001256525:exon5:c.C425A:p.A142D,ZNF74:NM_003426:exon5:c.C638A:p.A213D,ZNF74:NM_001256524:exon6:c.C638A:p.A213D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.006	0.00180353994409	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1308731607	1.371e-06	2.736e-06	1.364e-06	1.379e-06	1.164e-05	2.3e-07	9e-08	.	.	0	0	0	0	0	0	9.004e-07	0	1.164e-05	6.563e-06	6.561e-06	1.285e-05	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0.0005	0	0.554	0.06502	T	0.215	0.26306	T	0.005	0.12996	B	0.007	0.12992	B	.	.	.	.	1	0.08975	N	1.04	0.26193	L	3.45	0.05642	T	-0.09	0.08340	N	0.083	0.05929	-0.9111	0.46719	T	0.012	0.04510	T	9	0.06568694	0.08898	T	0.001804	0.03089	T	0.006	0.00375	0.365	0.37199	0.0138822411134	0.00435	0.23838048999158398	0.23752	0.685675236918	0.60296	0.311019003391	0.12061	T	0.029605	0.21175	T	-0.391943	0.02613	T	-0.700145	0.05817	T	0.0242145096632015	0.01172	T	0.325267	0.07620	T	0.08391733	0.19401	0.07286576	0.15770	0.08391733	0.19400	0.07286576	0.15770	-4.251	0.27484	T	.	.	0.086	0.21840	B	.;.;.	.;.;.	0.103150	0.05042	1.588	0.60924564474532328	0.06582	0.05188	0.11009	N	AEFDBI	0.050760	0.08902	N	-1.21717595367309	0.04751	0.2150637	-1.26538726210044	0.04906	0.2325872	5.35875566276321E-4	0.07248	0.651	0.46895	0	0.653731	0.59785	0	0.723109	0.80598	0	0.683762	0.67416	0	.	.	3.67	0.201	0.14463	-2.086000	0.01449	-0.784000	0.07442	-0.273000	0.06669	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.2026:0.5209:0.1661:0.1104	2.801	0.05083	982	0.03397	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	382.83	35	chr22	20405671	.	C	A	382.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.183;DP=222;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=8.9;ReadPosRankSum=0.522;SOR=0.804	GT:AD:DP:GQ:PL	0/1:26,17:43:99:393,0,648	5	0	1	0
chr22	21216068	21216068	C	T	exonic	GGT2	.	nonsynonymous SNV	GGT2:NM_001351304:exon10:c.G605A:p.R202Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.066	0.00405196476427	.	.	0.0001	0.0003	0.0003	0.0001	0	0.0001	0	0	3.84e-05	1	26028	rs766010014	2.967e-05	4.493e-05	3.017e-05	2.917e-05	0.0002	2.207e-05	1.987e-05	6.055e-05	3.895e-05	9.134e-05	0.0002	0	0	0.0001	0	2.254e-05	7.001e-05	0	4.328e-05	4.73e-05	5.609e-05	2.971e-05	7.557e-05	1.854e-05	1.22e-05	2.003e-05	1.055e-05	7.557e-05	0	0	0	0	0	0	4.83e-05	0	0	0.528	0.07071	T	0.457	0.12704	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	3.29	0.06445	T	-0.42	0.14193	N	0.1	0.08506	-0.9495	0.41058	T	0.017	0.06807	T	7	0.0622952	0.07942	T	0.004052	0.09650	T	0.066	0.19193	0.49	0.57573	0.043077524339	0.03247	0.4310347007208558	0.43020	1.981204247	0.93645	.	.	.	.	.	.	-0.367635	0.03715	T	-0.765859	0.02906	T	0.0101664577143361	0.00137	T	0.678032	0.28700	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.096	0.15206	B	.;.	.;.	1.660909	0.21183	15.09	0.51857175922842846	0.04639	0.09330	0.15108	N	AEFBI	0.047876	0.08110	N	-0.895697137090923	0.10943	0.5255746	-1.0522501983016	0.08660	0.4268974	7.19681065870471E-5	0.04552	0.553676	0.25195	0	0.588015	0.36545	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	1.97	-1.71	0.07696	0.782000	0.26449	0.326000	0.17235	-0.697000	0.04075	0.995000	0.38783	0.078000	0.22336	0.415000	0.27117	0.0:0.3385:0.2132:0.4483	3.379	0.06826	444	0.79803	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	39.83	11	chr22	21216068	.	C	T	39.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.6;DP=85;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=44.23;MQRankSum=-0.447;QD=3.62;ReadPosRankSum=-0.23;SOR=0.527	GT:AD:DP:GQ:PL	0/1:9,2:11:50:50,0,233	5	0	1	0
chr22	21216084	21216084	C	T	exonic	GGT2	.	nonsynonymous SNV	GGT2:NM_001351304:exon10:c.G589A:p.G197S	.	708	711	85	18	0	121	0.0784187	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025511	664	26028	rs55710139	7.199e-06	1.59e-05	2.859e-06	1.16e-05	2.647e-05	3.64e-06	2.65e-06	2.72e-06	1.75e-06	0	0	0	2.647e-05	0	0	6.546e-06	1.74e-05	1.241e-05	5.682e-05	7.425e-05	5.532e-05	5.84e-05	9.519e-05	2.739e-05	2.062e-05	4.112e-05	2.739e-05	2.491e-05	0	8e-05	0	0	0	0	9.519e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	476.86	15	chr22	21216084	.	C	T	476.86	.	AC=5;AF=0.5;AN=10;BaseQRankSum=2.43;DP=91;ExcessHet=6.1542;FS=2.197;MLEAC=5;MLEAF=0.5;MQ=46.55;MQRankSum=-2.17;QD=6.36;ReadPosRankSum=-0.144;SOR=1.08	GT:AD:DP:GQ:PL	0/1:7,4:11:99:126,0,156	0	0	5	1
chr22	21445988	21445988	G	A	exonic	HIC2	.	nonsynonymous SNV	HIC2:NM_015094:exon3:c.G1093A:p.E365K	.	408	1051	60	3	0	66	0.0304428	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.147	.	.	0.00199681	0.0032	0	0.0004	0	0	0.0020	0.0023	0.0146	0.0020569	318	154602	rs149799345	0.0014	0.0014	0.0011	0.0017	0.0134	0.0013	0.0013	0.0110	0.0101	0.0003	0.0007	0.0179	0	0	0.0134	0.0004	0.0023	0.0106	0.0014	0.0014	0.0013	0.0015	0.0095	0.0012	0.0012	0.0073	0.0066	0.0002	0	0.0005	0.0242	0	0	0.0068	0.0009	0.0019	0.0095	0.045	0.40832	D	0.205	0.27145	T	0.842	0.46562	P	0.321	0.41760	B	0.000087	0.51296	D	0.129540	0.999958	0.52396	D	1.1	0.28011	L	2.87	0.10386	T	-0.61	0.18042	N	0.222	0.25989	-1.0161	0.24980	T	0.021	0.08639	T	10	0.004128903	0.00081	T	.	.	.	0.147	0.38986	.	.	0.221890330934	0.21812	0.18196097492644409	0.18115	0.638735978135	0.57575	0.689908981323	0.65693	T	0.012475	0.10959	T	-0.483591	0.00705	T	-0.458027	0.26816	T	0.0364715312035745	0.03063	T	0.79772	0.44184	T	0.14119413	0.32544	0.14045286	0.33479	0.14119413	0.32544	0.14045286	0.33478	-5.163	0.38563	T	.	.	0.132	0.31456	B	.;.;.	.;.;.	2.863044	0.37831	20.6	0.93165849342801133	0.22820	0.94731	0.62136	D	AEFDBCI	0.391223	0.46975	N	-0.0280916914730184	0.40586	2.412805	0.0229660518386293	0.40784	2.439533	0.999999999996887	0.74766	0.695654	0.57023	0	0.379588	0.06130	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	5.18	5.18	0.71140	1.798000	0.38449	9.871000	0.82128	0.654000	0.53741	0.969000	0.34210	1.000000	0.68203	0.402000	0.26827	0.0:0.0:1.0:0.0	16.225	0.82106	929	0.16858	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.010628	0.000000	0.013661	0.008772	0.050000	0.008772	0.015432	0.007576	0.1667	795.06	42	chr22	21445988	.	G	A	795.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=0.526;DP=192;ExcessHet=0.4139;FS=5.162;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=12.82;ReadPosRankSum=0.731;SOR=0.277	GT:AD:DP:GQ:PL	0/1:16,8:24:99:200,0,427	4	0	2	0
chr22	22514483	22514483	A	G	exonic	ZNF280A	.	nonsynonymous SNV	ZNF280A:NM_080740:exon2:c.T1148C:p.M383T	.	427	1059	36	0	0	36	0.0167131	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.233	0.00594944685631	0.0009	0.00159744	0.0021	0.0003	0.0023	0	0.0002	0.0011	0.0044	0.0091	0.0018628	288	154602	rs143870620	0.0014	0.0014	0.0010	0.0018	0.0172	0.0014	0.0013	0.0144	0.0134	0.0004	0.0015	0.0033	0	5.616e-05	0.0172	0.0007	0.0025	0.0105	0.0010	0.0010	0.0009	0.0010	0.0062	0.0008	0.0008	0.0045	0.0039	0.0002	0	0.0022	0.0035	0	9.411e-05	0.0140	0.0007	0.0038	0.0062	0.001	0.78490	D	0.002	0.79402	D	.	.	.	.	.	.	.	.	.	.	0.642586	0.30603	N	.	.	.	1.57	0.29342	T	-5.76	0.87835	D	0.767	0.76481	-0.8955	0.48437	T	0.091	0.34874	T	9	0.013823152	0.00292	T	0.005949	0.15520	T	0.233	0.53499	.	.	0.575712373409	0.57239	0.10935647322485376	0.10864	0.247428932849	0.27293	0.693308591843	0.66181	T	.	.	.	-0.365541	0.03826	T	-0.288456	0.45933	T	0.0641167087728233	0.07799	T	0.980002	0.93225	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.907	0.83210	P	.	.	4.113507	0.61430	24.3	0.99054096764826915	0.51321	0.94961	0.62935	D	AEFDGBHI	0.548931	0.56202	D	0.389197484443325	0.60836	4.277072	0.29689041017889	0.55357	3.698876	0.999999866200883	0.74766	0.549168	0.22868	0	0.573888	0.26702	0	0.590023	0.30420	0	0.530356	0.10902	0	.	.	3.9	1.75	0.23707	4.041000	0.57051	2.625000	0.33658	0.740000	0.86194	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.7285:0.0:0.0995:0.172	4.528	0.11397	976	0.04745	Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.018127	0.000000	0.014946	0.032164	0.050000	0.025862	0.015244	0.026515	0.25	3745.0	98	chr22	22514483	.	A	G	3745.0	.	AC=3;AF=0.25;AN=12;BaseQRankSum=0.403;DP=451;ExcessHet=0;FS=0.677;MLEAC=3;MLEAF=0.25;MQ=60;MQRankSum=0;QD=22.84;ReadPosRankSum=-0.766;SOR=0.595	GT:AD:DP:GQ:PL	0/1:42,40:82:99:1109,0,1098	4	1	1	0
chr22	23311788	23311788	-	CCGG	exonic	BCR	.	frameshift insertion	BCR:NM_021574:exon18:c.3142_3143insCCGG:p.V1050Rfs*17,BCR:NM_004327:exon19:c.3274_3275insCCGG:p.V1094Rfs*17	Leukemia, acute lymphocytic, somatic;Leukemia, chronic myeloid, somatic	25	583	905	9	0	923	0.441838	.	.	.	1196252	Chronic_myelogenous_leukemia,_BCR-ABL1_positive|not_provided	Human_Phenotype_Ontology:HP:0005506,Human_Phenotype_Ontology:HP:0005544,MONDO:MONDO:0011996,MeSH:D015464,MedGen:C0279543,OMIM:608232,Orphanet:521|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0012679	33	26028	rs372013175	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	1755.92	87	chr22	23311788	.	T	TCCGG	1755.92	.	AC=4;AF=0.333;AN=12;BaseQRankSum=1.75;DP=317;ExcessHet=3.1439;FS=24.364;MLEAC=4;MLEAF=0.333;MQ=54.19;MQRankSum=-4.822;QD=8.02;ReadPosRankSum=0.251;SOR=2.113	GT:AD:DP:GQ:PL	0/1:25,7:32:99:219,0,1029	2	0	4	0
chr22	23311830	23311830	G	A	exonic	BCR	.	nonsynonymous SNV	BCR:NM_021574:exon18:c.G3184A:p.D1062N,BCR:NM_004327:exon19:c.G3316A:p.D1106N	Leukemia, acute lymphocytic, somatic;Leukemia, chronic myeloid, somatic	59	994	464	5	0	474	0.192526	.	.	.	247185	not_provided|not_specified	MedGen:C3661900|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.231	0.0272677260962	.	.	.	.	.	.	.	.	.	.	.	.	.	rs879255379	3.426e-06	6.156e-06	5.454e-06	1.377e-06	2.994e-05	1e-06	7.3e-07	7.2e-07	2e-07	2.994e-05	2.236e-05	0	0	0	0	2.698e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.071	0.35726	T	0.018	0.59732	D	0.976	0.58310	D	0.752	0.56092	P	0.000000	0.84330	D	0.000000	1	0.81001	D	0.765	0.19305	N	2.66	0.12575	T	-3.28	0.65627	D	0.843	0.83885	-1.1463	0.01139	T	0.053	0.22423	T	10	0.81994617	0.81205	D	0.027268	0.50098	D	0.231	0.53208	.	.	0.600008996327	0.59681	0.3965005129848048	0.39565	2.73974519172	0.98685	0.815404891968	0.84322	D	0.308497	0.68058	T	-0.175721	0.24374	T	-0.490187	0.23372	T	0.916451156139374	0.57389	D	0.875712	0.89686	D	0.43747994	0.63240	0.3549618	0.61031	0.43747994	0.63240	0.3549618	0.61031	-6.831	0.53477	T	.	.	0.771	0.75988	P	.;.	.;.	5.927754	0.94089	33	0.99910446622876614	0.98022	0.98481	0.83233	D	AEFBI	0.912634	0.87354	D	0.533033419009816	0.69054	5.303049	0.562786706860508	0.72290	5.786788	0.9999990001556	0.74766	0.706298	0.61202	0	0.702456	0.74545	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	4.49	4.49	0.54177	9.664000	0.97881	6.611000	0.56088	0.671000	0.69459	1.000000	0.71638	1.000000	0.68203	0.953000	0.50222	0.0:0.0:1.0:0.0	16.632	0.84893	940	0.13648	Rho GTPase-activating protein domain|Rho GTPase-activating protein domain|Rho GTPase-activating protein domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.25	350.39	69	chr22	23311830	.	G	A	350.39	.	AC=3;AF=0.25;AN=12;BaseQRankSum=1.79;DP=265;ExcessHet=1.383;FS=32.833;MLEAC=3;MLEAF=0.25;MQ=56.47;MQRankSum=-5.318;QD=3.47;ReadPosRankSum=-2.107;SOR=5.084	GT:AD:DP:GQ:PL	0/1:26,4:30:66:66,0,717	3	0	3	0
chr22	23573471	23573471	G	A	exonic	IGLL1	.	nonsynonymous SNV	IGLL1:NM_001369906:exon3:c.C440T:p.T147M,IGLL1:NM_020070:exon3:c.C437T:p.T146M	Agammaglobulinemia 2, Autosomal recessive	0	1506	16	0	0	16	0.00528402	.	.	.	538496	Agammaglobulinemia_2,_autosomal_recessive|not_provided	MONDO:MONDO:0013287,MedGen:C3150750,OMIM:613500|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.065	0.00468859019553	0.0007	0.00199681	0.0012	0.0004	0.0008	0.0043	0	0.0008	0.0011	0.0022	0.0010802	167	154602	rs112775194	0.0008	0.0019	0.0008	0.0009	0.0031	0.0008	0.0008	0.0027	0.0025	0.0007	0.0004	0.0015	0.0031	0.0001	0.0023	0.0006	0.0010	0.0029	0.0012	0.0023	0.0011	0.0012	0.0050	0.0010	0.0010	0.0035	0.0030	0.0007	0	0.0003	0.0009	0.0050	0	0	0.0014	0.0009	0.0033	0.024	0.91255	D	0.023	0.57104	D	0.842	0.46562	P	0.744	0.55835	P	0.761581	0.09619	N	0.883025	1	0.08975	N	2.26	0.64354	M	4.02	0.03178	T	-3.74	0.78046	D	0.119	0.10911	-1.0513	0.14036	T	0.019	0.08126	T	10	0.016934574	0.00359	T	0.004689	0.11660	T	0.065	0.18881	.	.	0.209622950755	0.20551	0.3573142907836002	0.35645	0.160446265012	0.18105	0.443933844566	0.31114	T	0.272379	0.64476	T	-0.492915	0.00627	T	-0.481096	0.24331	T	0.08163252429545	0.10195	T	0.358264	0.08182	T	0.12560488	0.29439	0.23286574	0.48460	0.09550721	0.22479	0.20060235	0.43998	-7.736	0.59257	D	0.21295265438520086	0.28585	0.073	0.06159	B	.;.	.;.	1.615803	0.20643	14.84	0.97134583456692747	0.32512	0.00769	0.03173	N	AEFGI	0.046750	0.07797	N	-0.920966437021993	0.10352	0.4942933	-1.2079908728977	0.05780	0.276408	7.67661893798426E-5	0.04552	0.446893	0.09132	0	0.563428	0.19063	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	2.45	-1.69	0.07747	0.041000	0.13813	-8.323000	0.00989	-1.619000	0.00871	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2415:0.0:0.5726:0.1859	3.881	0.08584	880	0.29376	Immunoglobulin C1-set|Immunoglobulin-like domain|Immunoglobulin C1-set;Immunoglobulin C1-set|Immunoglobulin-like domain|Immunoglobulin C1-set	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.003784	0.005263	0.002717	0.004132	0.000000	0.000000	0.003145	0.003906	0.08333	1593.83	45	chr22	23573471	.	G	A	1593.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.102;DP=320;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=59.91;MQRankSum=-0.932;QD=12.36;ReadPosRankSum=1.08;SOR=0.662	GT:AD:DP:GQ:PL	0/1:61,68:129:99:1604,0,1593	5	0	1	0
chr22	25040084	25040084	G	A	exonic	KIAA1671	.	nonsynonymous SNV	KIAA1671:NM_001145206:exon3:c.G2954A:p.S985N	.	428	1093	1	0	0	1	0.000457247	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.030	0.00462082826253	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0.0001	6.768e-05	0.0002	0.0025	0.0001	0.0001	0.0022	0.0021	0	0	0	0	0	0.0007	4.634e-06	0.0001	0.0025	4.6e-05	5.253e-05	2.569e-05	6.727e-05	0.0015	2.109e-05	1.527e-05	0.0007	0.0005	0	0	0	0	0	0	0	0	0	0.0015	1.0	0.00964	T	0.727	0.05221	T	0.003	0.11197	B	0.001	0.04355	B	0.313680	0.04031	N	1.491120	1	0.08975	N	0.805	0.20218	L	.	.	.	-0.69	0.19720	N	0.156	0.16447	-1.0363	0.18450	T	0.062	0.25923	T	9	0.030418992	0.01168	T	0.004621	0.11440	T	0.030	0.07022	0.234	0.16305	0.0716867268079	0.06686	0.015119824662782482	0.01467	.	.	0.2558991611	0.04414	T	0.005825	0.05268	T	-0.268353	0.11941	T	-0.623247	0.10933	T	0.0245850720297439	0.01219	T	0.349165	0.07749	T	0.05700391	0.11288	0.06163901	0.11934	0.05700391	0.11288	0.06163901	0.11933	-5.69	0.43605	T	.	.	0.119	0.25232	B	.;.	.;.	1.044918	0.14260	10.83	0.49656687360934504	0.04248	0.03288	0.08337	N	AEFDBI	0.032473	0.03677	N	-0.975913167470298	0.09120	0.4303313	-0.950197230710541	0.10918	0.5530404	0.0270828060156095	0.13752	0.615465	0.37627	0	0.59043	0.45803	0	0.658983	0.55881	0	0.635551	0.53088	0	.	.	4.22	1.98	0.25351	0.424000	0.21049	1.384000	0.26059	0.618000	0.50648	0.001000	0.13787	0.005000	0.19230	0.173000	0.21076	0.3557:0.0:0.6443:0.0	6.234	0.19960	934	0.15400	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	1273.83	34	chr22	25040084	.	G	A	1273.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.283;DP=338;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.11;ReadPosRankSum=-0.174;SOR=0.72	GT:AD:DP:GQ:PL	0/1:75,51:126:99:1284,0,2003	5	0	1	0
chr22	29059146	29059146	G	A	exonic	C22orf31	.	nonsynonymous SNV	C22orf31:NM_015370:exon3:c.C469T:p.R157C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.100	0.00763035627615	.	.	1.667e-05	0	0	0.0001	0	0	0	6.44e-05	1.29e-05	2	154602	rs527877688	2.056e-05	2.052e-05	1.772e-05	2.342e-05	0.0005	1.458e-05	1.266e-05	0.0001	7.56e-05	3e-05	0	0	5.04e-05	0	0.0005	1.35e-05	1.658e-05	9.312e-05	6.567e-06	6.562e-06	1.285e-05	0	2.407e-05	0	0	.	.	2.407e-05	0	0	0	0	0	0	0	0	0	0.107	0.29554	T	0.12	0.35970	T	0.002	0.09854	B	0.003	0.08700	B	0.704831	0.06224	N	1.143940	0.995748	0.23212	N	0	0.06538	N	1.47	0.31987	T	-2.29	0.50992	N	0.074	0.04790	-1.0073	0.27758	T	0.025	0.10464	T	10	0.018617183	0.00407	T	0.00763	0.20246	T	0.100	0.28662	0.306	0.27646	0.0920862733494	0.08535	0.023310560540868948	0.02283	0.023200147612	0.02356	.	.	.	0.030782	0.21738	T	-0.547467	0.00302	T	-0.732026	0.04236	T	0.0459732753338038	0.04779	T	0.661834	0.27067	T	0.07079495	0.15623	0.058837842	0.10942	0.07079495	0.15622	0.058837842	0.10941	-5.34	0.40337	T	.	.	0.084	0.09578	B	.	.	-0.262062	0.02787	0.380	0.80910278116112944	0.13427	0.01643	0.05285	N	AEFDGBCI	0.037971	0.05303	N	-1.45945412050339	0.02143	0.09432615	-1.5373523908034	0.02064	0.09438627	0.999999999961415	0.74766	0.554377	0.28877	0	0.59043	0.45803	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	5.64	-11.3	0.00084	-3.914000	0.00378	-5.854000	0.01574	-0.123000	0.13640	0.000000	0.06391	0.000000	0.08366	0.995000	0.73285	0.402:0.1684:0.1118:0.3177	1.089	0.01557	525	0.74024	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	871.83	38	chr22	29059146	.	G	A	871.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=3.12;DP=247;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.64;ReadPosRankSum=0.285;SOR=0.604	GT:AD:DP:GQ:PL	0/1:39,30:69:99:882,0,997	5	0	1	0
chr22	29225184	29225184	G	A	exonic	EMID1	.	nonsynonymous SNV	EMID1:NM_001267895:exon4:c.G365A:p.R122Q,EMID1:NM_133455:exon4:c.G371A:p.R124Q	.	420	1075	26	1	0	28	0.0128558	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.302	.	0.0031	0.00219649	0.0028	0.0008	0.0023	0.0001	0.0002	0.0041	0.0022	0.0013	0.0029042	449	154602	rs34772704	0.0039	0.0039	0.0039	0.0038	0.0149	0.0038	0.0037	0.0124	0.0114	0.0008	0.0029	0.0064	0.0001	0.0005	0.0149	0.0043	0.0044	0.0012	0.0027	0.0027	0.0029	0.0025	0.0043	0.0025	0.0024	0.0036	0.0035	0.0006	0	0.0043	0.0072	0	0.0002	0.0102	0.0040	0.0076	0.0014	0.0	0.91255	D	0.032	0.92824	D	0.999	0.77913	D	0.99	0.78936	D	0.014239	0.28595	N	0.164651	1	0.08975	N	.	.	.	-2.52	0.89363	D	-1.24	0.37759	N	0.304	0.39254	-0.0769	0.80622	T	0.677	0.88826	D	10	0.009060919	0.00205	T	.	.	.	0.302	0.62290	.	.	0.888450003574	0.88734	0.38114820571821273	0.38029	0.150594837519	0.16984	0.326098054647	0.14344	T	0.039873	0.25338	T	-0.314583	0.07350	T	-0.222042	0.52540	T	0.0506707974209535	0.05618	T	0.931307	0.75551	D	.	.	.	.	.	.	.	.	-8.339	0.63358	D	.	.	0.079	0.10014	B	.;.;.;.	.;.;.;.	3.680872	0.52392	23.2	0.99910428315345046	0.98022	0.54391	0.29604	D	AEFBCI	0.139462	0.26107	N	0.107606616268125	0.46818	2.916375	-0.0761547724000783	0.36379	2.116327	0.999694580982243	0.41870	0.660377	0.49826	0	0.694456	0.67091	0	0.723109	0.80598	0	0.542086	0.14980	0	.	.	4.62	1.41	0.21461	1.763000	0.38090	1.953000	0.29896	0.676000	0.76740	0.178000	0.24038	0.501000	0.25205	0.278000	0.23967	0.2862:0.0:0.7138:0.0	6.755	0.22692	438	0.80235	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.015106	0.010101	0.021739	0.014620	0.000000	0.008621	0.015244	0.003788	0.08333	830.83	34	chr22	29225184	.	G	A	830.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.603;DP=246;ExcessHet=0;FS=1.927;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.93;ReadPosRankSum=-0.287;SOR=0.473	GT:AD:DP:GQ:PL	0/1:41,35:76:99:841,0,990	5	0	1	0
chr22	29311919	29311919	A	G	exonic	GAS2L1	.	nonsynonymous SNV	GAS2L1:NM_001362985:exon6:c.A1468G:p.S490G,GAS2L1:NM_006478:exon6:c.A1468G:p.S490G,GAS2L1:NM_152236:exon6:c.A1468G:p.S490G	.	425	1082	14	1	0	16	0.00733945	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.020	.	0.0055	0.00279553	0.0059	0.0009	0.0030	0	0.0032	0.0092	0.0025	0.0024	0.005802	897	154602	rs34124440	0.0086	0.0085	0.0087	0.0084	0.0103	0.0084	0.0084	0.0101	0.0100	0.0013	0.0027	0.0029	0	0.0038	0.0092	0.0103	0.0060	0.0024	0.0048	0.0048	0.0054	0.0042	0.0087	0.0045	0.0044	0.0081	0.0079	0.0015	0	0.0018	0.0023	0	0.0018	0	0.0087	0.0066	0.0023	.	.	.	0.385	0.15746	T	0.462	0.36386	P	0.084	0.29270	B	0.044205	0.23661	U	0.327933	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.129	0.15888	-1.0523	0.13763	T	0.066	0.27087	T	8	0.005847901	0.00131	T	.	.	.	.	.	.	.	0.690431008816	0.68777	0.2429284842913672	0.24206	.	.	0.545373618603	0.45204	T	0.021971	0.17018	T	-0.331879	0.05970	T	-0.238467	0.50947	T	0.00326365972372707	0.00034	T	0.547645	0.18800	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.082	0.08754	B	.;.;.;.	.;.;.;.	2.810066	0.36988	20.4	0.78222028862419413	0.12207	0.62802	0.31892	D	AEFDBI	0.011544	0.00104	N	-0.143338478756313	0.35520	2.041199	-0.0899376671974836	0.35806	2.075893	0.999991423381804	0.74766	0.722319	0.85440	0	0.578056	0.33634	0	0.723109	0.80598	0	0.735409	0.98432	0	.	.	3.6	2.47	0.29113	1.470000	0.34963	3.919000	0.40458	0.691000	0.84096	0.871000	0.30813	1.000000	0.68203	0.943000	0.48514	0.815:0.185:0.0:0.0	9.041	0.35483	480	0.77422	.;.;.;.	.	.	.	.	rs34124440	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.011078	0.005102	0.010870	0.011696	0.000000	0.017241	0.018293	0.003788	0.08333	1064.83	33	chr22	29311919	.	A	G	1064.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.009;DP=269;ExcessHet=0;FS=0.765;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.21;ReadPosRankSum=0.726;SOR=0.661	GT:AD:DP:GQ:PL	0/1:48,47:95:99:1075,0,1112	5	0	1	0
chr22	31344681	31344681	G	A	exonic	PATZ1	.	nonsynonymous SNV	PATZ1:NM_014323:exon1:c.C922T:p.R308W,PATZ1:NM_032050:exon1:c.C922T:p.R308W,PATZ1:NM_032051:exon1:c.C922T:p.R308W,PATZ1:NM_032052:exon1:c.C922T:p.R308W	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.458	0.111583891232	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.368e-06	1.368e-06	2.723e-06	0	1.799e-06	2.3e-07	9e-08	3e-07	1.1e-07	0	0	0	0	0	0	1.799e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.006	0.72154	D	0.011	0.66756	D	1.0	0.90584	D	0.983	0.80445	D	0.000005	0.62929	D	0.062763	1	0.81001	D	0.695	0.17993	N	-1.19	0.78427	T	-5.65	0.87300	D	0.419	0.52297	0.011	0.82486	D	0.444	0.78124	T	10	0.60692155	0.67227	D	0.111584	0.78942	D	0.458	0.75619	0.366	0.37361	0.686668411934	0.68398	0.5931197625829592	0.59241	2.10714713315	0.94902	0.727696537971	0.71169	T	0.48792	0.81377	T	0.133807	0.67730	D	-0.0455713	0.67325	D	0.992131412029266	0.82542	D	0.990021	0.96919	D	0.56576717	0.70828	0.47209516	0.69395	0.56576717	0.70829	0.47209516	0.69396	-9.394	0.74775	D	.	.	0.672	0.81289	P	.;.;.;.	.;.;.;.	5.781985	0.93528	33	0.99920639938990641	0.98721	0.79019	0.39079	D	AEFDGBHCI	0.864145	0.78287	D	0.490827048252541	0.66553	4.965049	0.518128254692248	0.69212	5.328049	0.999999999999997	0.74766	0.542737	0.22433	0	0.504199	0.08210	0	0.52208	0.10781	0	0.638787	0.57140	0	.	.	4.78	4.78	0.60666	4.916000	0.63061	8.600000	0.77723	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:1.0:0.0	16.809	0.85577	215	0.91651	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	2002.83	33	chr22	31344681	.	G	A	2002.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.71;DP=301;ExcessHet=0;FS=2.287;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=15.9;ReadPosRankSum=-1.801;SOR=0.876	GT:AD:DP:GQ:PL	0/1:55,71:126:99:2013,0,1343	5	0	1	0
chr22	36265782	36265782	G	T	exonic	APOL1	.	stopgain	APOL1:NM_001136541:exon5:c.G892T:p.E298X,APOL1:NM_001362927:exon5:c.G892T:p.E298X,APOL1:NM_001136540:exon6:c.G946T:p.E316X,APOL1:NM_003661:exon6:c.G946T:p.E316X,APOL1:NM_145343:exon7:c.G994T:p.E332X	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.617745	0.05738	N	1.200530	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.79	0.78737	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.299787	0.82950	D	0.192847	0.82730	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.;Tolerant;.	.;.;.;High;.	5.111238	0.85445	28.6	0.94747486642744438	0.25445	0.01550	0.05082	N	AEFDBI	0.051060	0.08984	N	-0.28464942149091	0.29742	1.651984	-0.709861734847565	0.16715	0.8855342	0.64071294737418	0.22051	0.706548	0.73137	0	0.724815	0.89359	0	0.547309	0.15389	0	0.567339	0.31927	0	.	.	3.18	-2.28	0.06438	-1.743000	0.01933	-20.000000	0.00162	-0.266000	0.06809	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.4028:0.0:0.402:0.1951	3.413	0.06937	489	0.76795	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1667	81.06	133	chr22	36265782	.	G	T	81.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-2.59;DP=740;ExcessHet=0.4139;FS=125.08;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=0.33;ReadPosRankSum=2.17;SOR=7.427	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:92,27:119:52:.:.:52,0,2361:.	4	0	2	0
chr22	36501294	36501294	G	A	exonic	FOXRED2	.	nonsynonymous SNV	FOXRED2:NM_001363041:exon4:c.C893T:p.S298L,FOXRED2:NM_001363042:exon4:c.C893T:p.S298L,FOXRED2:NM_001102371:exon5:c.C1163T:p.S388L,FOXRED2:NM_024955:exon5:c.C1163T:p.S388L	.	439	1082	1	0	0	1	0.000461894	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.442	0.0875809009696	0.0002	0.000199681	0.0001	0.0007	8.637e-05	0	0	7.492e-05	0	6.058e-05	9.7e-05	15	154602	rs147376195	0.0001	0.0001	0.0001	9.488e-05	0.0004	8.982e-05	8.465e-05	0.0003	0.0002	0.0004	0.0002	3.826e-05	0	0	0	0.0001	0.0002	6.956e-05	0.0003	0.0003	0.0002	0.0003	0.0011	0.0002	0.0002	0.0007	0.0006	0.0004	0	0.0011	0	0	0	0	5.88e-05	0.0009	0.0002	0.003	0.68238	D	0.032	0.53426	D	1.0	0.90584	D	0.976	0.73562	D	0.000085	0.51296	D	0.175421	1	0.81001	D	3.085	0.87354	M	2.28	0.17271	T	-5.42	0.85247	D	0.914	0.91621	-0.8512	0.51885	T	0.144	0.46732	T	10	0.60257816	0.66995	D	0.087581	0.74964	D	0.442	0.74518	.	.	0.547935346631	0.54449	0.9472681338565482	0.94709	0.562103597048	0.52702	0.766009569168	0.76826	T	0.070004	0.33852	T	0.0170249	0.53978	T	0.11668	0.78014	D	0.726331889629364	0.42021	D	0.969603	0.89085	D	0.49772847	0.66962	0.5353862	0.73152	0.49772847	0.66962	0.5353862	0.73152	-11.824	0.83983	D	.	.	0.307	0.53557	B	.;.;.	.;.;.	5.065860	0.84460	28.3	0.99904241159926555	0.97502	0.98348	0.81871	D	AEFDBI	0.785714	0.71601	D	0.745532479767453	0.82611	7.806178	0.6500669339713	0.78616	6.912119	0.999999241029105	0.74766	0.732398	0.92422	0	0.633656	0.55848	0	0.643519	0.47002	0	0.727631	0.95156	0	.	.	5.56	5.56	0.83678	7.118000	0.76763	9.961000	0.82795	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.861000	0.40843	0.0:0.1415:0.8585:0.0	15.056	0.71581	940	0.13648	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.08333	1363.83	37	chr22	36501294	.	G	A	1363.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.36;DP=267;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.36;ReadPosRankSum=-0.857;SOR=0.749	GT:AD:DP:GQ:PL	0/1:41,54:95:99:1374,0,923	5	0	1	0
chr22	38087167	38087167	-	CATGGAGGTCATGGAGGTCATGGAGGT	exonic	BAIAP2L2	.	nonframeshift insertion	BAIAP2L2:NM_025045:exon11:c.1215_1216insACCTCCATGACCTCCATGACCTCCATG:p.M405_S406insTSMTSMTSM	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.476e-05	1.703e-05	1.615e-05	1.341e-05	9.225e-05	8.23e-06	6.34e-06	2.444e-05	1.277e-05	0	0	0	9.225e-05	0	0	1.259e-05	2.625e-05	1.617e-05	6.49e-05	6.975e-05	4.269e-05	8.771e-05	0.0005	2.728e-05	1.928e-05	9.168e-05	3.751e-05	0	0	0	0	0.0005	0	0	9.927e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	2453.0	94	chr22	38087167	.	A	ACATGGAGGTCATGGAGGTCATGGAGGT	2453.0	.	AC=1;AF=0.167;AN=6;BaseQRankSum=0.835;DP=365;ExcessHet=0.4139;FS=4.97;MLEAC=1;MLEAF=0.167;MQ=60;MQRankSum=0;QD=16.69;ReadPosRankSum=0.725;SOR=0.387	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:29,24:53:99:.:.:850,0,1128:.	2	0	1	3
chr22	39641031	39641031	A	G	exonic	CACNA1I	.	nonsynonymous SNV	CACNA1I:NM_001003406:exon6:c.A905G:p.D302G,CACNA1I:NM_021096:exon6:c.A905G:p.D302G	.	422	1090	10	0	0	10	0.00456621	.	.	.	2840429	not_provided|CACNA1I-related_disorder	MedGen:C3661900|.	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.445	0.0741730547426	0.0013	0.000798722	0.0016	0	0.0011	0	0	0.0019	0.0033	0.0028	0.0014748	228	154602	rs59635914	0.0012	0.0012	0.0011	0.0013	0.0035	0.0012	0.0012	0.0023	0.0021	5.974e-05	0.0008	0.0085	0	0.0004	0.0035	0.0011	0.0015	0.0025	0.0009	0.0009	0.0012	0.0007	0.0017	0.0008	0.0008	0.0010	0.0009	0.0001	0.0022	0.0007	0.0084	0	0.0003	0	0.0012	0.0019	0.0017	0.459	0.12070	T	0.358	0.17064	T	0.392	0.43848	B	0.142	0.36635	B	0.181584	0.17088	U	0.304573	0.965378	0.27254	N	0.595	0.15482	N	-4.07	0.96659	D	-1.24	0.31375	N	0.358	0.39962	0.160	0.85222	D	0.706	0.89889	D	10	0.0074782073	0.00170	T	0.074173	0.71974	D	0.445	0.74727	.	.	0.815950638044	0.81421	0.9392349661547909	0.93904	1.82111781014	0.91949	0.524511218071	0.42261	T	0.328259	0.69869	T	-0.193936	0.21683	T	-0.0562789	0.66591	D	0.0369600851075309	0.03149	T	0.787321	0.42620	T	0.18174887	0.39360	0.19433993	0.43051	0.18174887	0.39360	0.19433993	0.43050	-7.257	0.56806	T	.	.	0.079	0.14477	B	.;.;.;.	.;.;.;.	3.617748	0.51181	23.1	0.99205092223509583	0.55412	0.88657	0.48688	D	AEFBI	0.324618	0.42645	N	-0.0235972397717351	0.40788	2.428355	0.115898142358363	0.45361	2.800664	0.776572382050438	0.23762	0.580535	0.33130	0	0.59043	0.45803	0	0.576033	0.28219	0	0.542086	0.14980	0	.	.	5.21	4.18	0.48473	4.457000	0.59826	5.253000	0.48099	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.936000	0.47498	0.9231:0.0:0.0769:0.0	10.376	0.43265	865	0.32612	.;.;.;Ion transport domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.001511	0.000000	0.000000	0.000000	0.050000	0.000000	0.003049	0.003788	0.08333	1721.83	33	chr22	39641031	.	A	G	1721.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.322;DP=306;ExcessHet=0;FS=0.636;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.66;ReadPosRankSum=0.66;SOR=0.752	GT:AD:DP:GQ:PL	0/1:65,71:136:99:1732,0,1583	5	0	1	0
chr22	45359935	45359935	T	C	exonic	SMC1B	.	nonsynonymous SNV	SMC1B:NM_001291501:exon18:c.A2732G:p.E911G,SMC1B:NM_148674:exon18:c.A2732G:p.E911G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.393	0.0536218060464	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1282513472	1.369e-06	1.369e-06	0	2.752e-06	0.0002	2.3e-07	9e-08	.	.	0	0	0	0	0	0.0002	0	1.658e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.008	0.59928	D	0.082	0.57587	T	.	.	.	.	.	.	0.336357	0.14032	N	0.630017	0.99995	0.52396	D	.	.	.	-1.47	0.81067	T	-4.23	0.78135	D	0.63	0.64903	-0.2127	0.77343	T	0.479	0.80083	T	10	0.57892776	0.65738	D	0.053622	0.65542	D	0.393	0.70844	0.427	0.47350	0.500467616859	0.49682	0.4699314695486761	0.46912	0.786590578851	0.65551	0.314804792404	0.12633	T	.	.	.	0.0372238	0.56681	T	-0.184307	0.56123	T	0.666100263595581	0.39164	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.125	0.33365	B	.;.	.;.	2.759563	0.36189	20.2	0.99696730273154244	0.80316	0.97349	0.74188	D	AEFBI	0.724471	0.67376	D	-0.0992791781030918	0.37423	2.17709	-0.147445537837665	0.33508	1.917374	0.602115321806297	0.21735	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.530356	0.10902	0	.	.	5.25	4.2	0.48814	6.107000	0.71183	6.102000	0.53564	0.661000	0.55757	1.000000	0.71638	1.000000	0.68203	0.565000	0.30531	0.0:0.0729:0.0:0.9271	11.152	0.47687	981	0.03995	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1199.83	38	chr22	45359935	.	T	C	1199.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.414;DP=290;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.12;ReadPosRankSum=-1.968;SOR=0.631	GT:AD:DP:GQ:PL	0/1:37,48:85:99:1210,0,897	5	0	1	0
chr22	50220728	50220728	G	A	exonic	TUBGCP6	.	nonsynonymous SNV	TUBGCP6:NM_020461:exon16:c.C3631T:p.R1211W	Microcephaly and chorioretinopathy, autosomal recessive, 1, Autosomal recessive	0	1520	1	1	0	3	0.000985869	.	.	.	849416	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.070	0.0393968462326	0.0003	0.000199681	0.0002	0.0007	8.642e-05	0	0	0.0001	0	0.0002	0.0001423	22	154602	rs138250830	0.0002	0.0002	0.0002	0.0002	0.0004	0.0001	0.0001	0.0003	0.0002	0.0004	6.864e-05	0	5.066e-05	3.758e-05	0	0.0002	0.0002	3.486e-05	0.0003	0.0003	0.0004	0.0002	0.0006	0.0002	0.0002	0.0004	0.0004	0.0006	0	0	0	0	9.515e-05	0	0.0002	0	0.0004	0.029	0.47320	D	0.006	0.74150	D	1.0	0.90584	D	0.997	0.86255	D	0.442597	0.04769	N	1.411480	0.999995	0.08975	N	1.245	0.31408	L	2.9	0.13552	T	-2.85	0.60029	D	0.302	0.34120	-1.0415	0.16860	T	0.075	0.30117	T	10	0.047585577	0.04095	T	0.039397	0.58785	D	0.070	0.20419	.	.	0.410204130746	0.40637	0.3958763959318932	0.39502	0.539597992946	0.51187	0.379036664963	0.22120	T	0.128262	0.45580	T	-0.471367	0.00833	T	-0.526568	0.19630	T	0.0734473105240133	0.09126	T	0.515548	0.36163	T	0.054872636	0.10589	0.06614208	0.13507	0.054872636	0.10588	0.06614208	0.13506	-7.966	0.60838	D	.	.	0.207	0.43407	B	.;.	.;.	2.563138	0.33199	19.27	0.99536610025122318	0.70212	0.27651	0.23337	N	AEFGBCI	0.204484	0.33091	N	-0.471862578027912	0.23006	1.232416	-0.483887936059013	0.22596	1.228144	0.998610181815659	0.37309	0.706548	0.73137	0	0.702456	0.74545	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	4.54	2.31	0.27816	0.158000	0.16239	1.038000	0.23534	-0.920000	0.02202	0.000000	0.06391	0.000000	0.08366	0.015000	0.10482	0.0765:0.0:0.5274:0.3961	7.665	0.27593	684	0.59539	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1667	8099.04	41	chr22	50220728	.	G	A	8099.04	.	AC=2;AF=0.167;AN=12;BaseQRankSum=3.61;DP=489;ExcessHet=0;FS=1.645;MLEAC=2;MLEAF=0.167;MQ=59.47;MQRankSum=-0.416;QD=29.03;ReadPosRankSum=1.03;SOR=0.327	GT:AD:DP:GQ:PL	1/1:6,273:279:99:8119,756,0	5	1	0	0
chrX	6533921	6533921	-	GCTCTCCTGACTCAGTGGTTCTTCCACCTC	exonic	VCX3A	.	nonframeshift insertion	VCX3A:NM_016379:exon3:c.384_385insGAGGTGGAAGAACCACTGAGTCAGGAGAGC:p.S128_Q129insEVEEPLSQES	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001	0	0	0	0	0.0002	0	0.0001	7.68e-05	2	26028	rs1363855103	0.0009	0.0032	0.0013	1.523e-05	0.0019	0.0009	0.0008	0.0009	0.0009	0.0002	0.0005	0.0020	6.911e-05	0.0009	0.0019	0.0010	0.0017	5.985e-05	0.0012	0.0018	0.0016	5.244e-05	0.0016	0.0010	0.0010	0.0013	0.0012	0.0005	0.0220	0.0016	0.0014	0.0004	0.0002	0	0.0016	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	539.66	42	chrX	6533921	.	G	GGCTCTCCTGACTCAGTGGTTCTTCCACCTC	539.66	.	AC=1;AF=0.1;AN=10;BaseQRankSum=-2.582;DP=513;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.1;MQ=47.37;MQRankSum=0.654;QD=13.49;ReadPosRankSum=-2.781;SOR=0.425	GT:AD:DP:GQ:PL	0/1:23,17:40:99:549,0,925	4	0	1	1
chrX	7843210	7843210	C	T	exonic	VCX	.	nonsynonymous SNV	VCX:NM_013452:exon2:c.C7T:p.P3S	.	523	993	6	0	0	6	0.00301205	.	.	.	3185614	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.021	0.00175172759685	0.0041	.	0.0027	0.0006	0.0022	0	0.0008	0.0042	0.0025	0.0007	6.5e-06	1	154602	rs146106202	0.0043	0.0087	0.0064	0.0001	0.0052	0.0042	0.0042	0.0051	0.0051	0.0006	0.0020	0.0013	3.32e-05	0.0012	0.0028	0.0052	0.0037	0.0004	0.0025	0.0047	0.0034	0	0.0057	0.0023	0.0022	0.0045	0.0041	0.0004	0	0.0057	0.0013	0	0.0007	0	0.0037	0.0016	0	0.0	0.91255	D	0.014	0.92824	D	0.988	0.62325	D	0.932	0.66722	D	.	.	.	.	1	0.08975	N	2.32	0.66415	M	2.07	0.20387	T	-0.55	0.17210	N	0.111	0.14622	-1.0687	0.09701	T	0.059	0.24760	T	8	0.008450568	0.00192	T	0.001752	0.02960	T	0.021	0.04004	.	.	0.043077524339	0.03247	0.007890761434372222	0.00754	0.356536374075	0.37394	0.487867742777	0.37144	T	0.013509	0.11669	T	-0.354899	0.04427	T	-0.747564	0.03581	T	0.0195837778994257	0.00661	T	0.648535	0.26183	T	0.14411506	0.33093	0.28355885	0.54350	0.14411506	0.33092	0.28355885	0.54349	-3.547	0.17096	T	.	.	0.103	0.45421	B	.;.;.	.;.;.	1.199366	0.15912	12.19	0.94897439868957556	0.25745	0.40024	0.26344	N	AEFHCI	.	.	.	.	.	.	.	.	.	1.1996878503602E-5	0.02871	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.167	0.167	0.14292	0.090000	0.14865	-6.367000	0.01418	0.296000	0.18849	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	.	.	.	1000	0.00083	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0.005046	0.010526	0.005917	0.000000	0.000000	0.000000	0.005682	0.006061	0.08333	76.83	52	chrX	7843210	.	C	T	76.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-3.072;DP=212;ExcessHet=0;FS=5.441;MLEAC=1;MLEAF=0.083;MQ=30.01;MQRankSum=0.318;QD=5.49;ReadPosRankSum=-0.283;SOR=0.033	GT:AD:DP:GQ:PL	0/1:10,4:14:87:87,0,282	5	0	1	0
chrX	8466006	8466035	GAACCACTGAGTCAGGAGAGCCAGGTGGAG	-	exonic	VCX3B	.	nonframeshift deletion	VCX3B:NM_001001888:exon3:c.364_393del:p.Q129_S138del	.	621	857	9	1	34	45	0.00637681	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001	0	0	0	0	8.236e-05	0	0.0009	0.0001617	25	154602	rs768996666	0.0024	0.0022	0.0028	0.0012	0.0042	0.0023	0.0023	0.0023	0.0021	0.0005	0.0029	0.0044	0.0007	0.0042	0.0042	0.0023	0.0040	0.0021	0.0006	0.0010	0.0007	0	0.0007	0.0004	0.0004	0.0005	0.0004	5.67e-05	0.0081	0.0004	0.0018	0.0007	0.0021	0	0.0007	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	970.02	39	chrX	8466005	.	AGAACCACTGAGTCAGGAGAGCCAGGTGGAG	A	970.02	.	AC=2;AF=0.167;AN=12;BaseQRankSum=1.32;DP=151;ExcessHet=0;FS=9.243;MLEAC=2;MLEAF=0.167;MQ=41.4;MQRankSum=1.04;QD=34.64;ReadPosRankSum=-0.67;SOR=1.519	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:2,26:28:19:1|1:8466005_AGAACCACTGAGTCAGGAGAGCCAGGTGGAG_A:990,19,0:8466005	5	1	0	0
chrX	27822288	27822288	G	A	exonic	MAGEB10	.	nonsynonymous SNV	MAGEB10:NM_182506:exon3:c.G982A:p.V328I	.	431	1057	19	15	0	49	0.0226537	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.024	.	0.0024	0.00741722	0.0064	0.0008	0.0008	0.0002	0.0046	0.0045	0.0174	0.0311	0.0060931	942	154602	rs146965052	0.0050	0.0050	0.0045	0.0062	0.0317	0.0049	0.0049	0.0304	0.0299	0.0006	0.0005	0.0050	6.622e-05	0.0052	0.0191	0.0037	0.0049	0.0317	0.0034	0.0035	0.0034	0.0034	0.0260	0.0031	0.0030	0.0211	0.0194	0.0006	0	0.0005	0.0057	0.0006	0.0051	0.0229	0.0043	0.0026	0.0260	0.572	0.06145	T	0.157	0.31730	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	-0.64	0.02118	N	4.7	0.01673	T	-0.36	0.13035	N	0.027	0.00571	-0.9027	0.47705	T	0.002	0.00676	T	9	0.002999872	0.00049	T	.	.	.	0.024	0.04979	.	.	0.043077524339	0.03247	0.30905830003244733	0.30818	0.274155545098	0.29911	0.38194924593	0.22533	T	0.003	0.01994	T	-0.97411	0.00000	T	-1.14902	0.00008	T	0.00272581046394871	0.00028	T	0.119788	0.00924	T	0.028556041	0.02212	0.043278653	0.05349	0.028556041	0.02211	0.043278653	0.05349	-4.851	0.35179	T	.	.	0.078	0.07697	B	.;.	.;.	-0.436274	0.02080	0.193	0.44550226678641525	0.03433	0.00020	0.00220	N	AEFI	.	.	.	.	.	.	.	.	.	0.845199729666652	0.24940	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.79	-3.16	0.04897	0.067000	0.14378	-0.627000	0.08144	-0.901000	0.02322	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.2507:0.0:0.7493:0.0	11.516	0.49773	924	0.18029	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.015862	0.000000	0.009276	0.011858	0.000000	0.047059	0.008850	0.047368	0.1667	1320.04	37	chrX	27822288	.	G	A	1320.04	.	AC=2;AF=0.167;AN=12;DP=229;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;QD=33;SOR=1.788	GT:AD:DP:GQ:PL	1/1:0,40:40:99:1340,120,0	5	1	0	0
chrX	49176001	49176001	G	T	exonic	PRICKLE3	.	nonsynonymous SNV	PRICKLE3:NM_001307979:exon9:c.C1316A:p.A439D,PRICKLE3:NM_006150:exon9:c.C1520A:p.A507D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.038	0.0122797194099	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.623	0.07368	T	0.019	0.17989	B	0.007	0.12992	B	0.869780	0.08833	N	0.918912	1	0.08975	N	0.895	0.22405	L	-0.35	0.68616	T	.	.	.	0.183	0.19861	-1.0050	0.28457	T	0.140	0.45960	T	10	0.08375749	0.13966	T	0.01228	0.30711	T	.	.	0.305	0.27485	0.425499470309	0.42167	0.319565020944504	0.31869	.	.	0.599554419518	0.52841	T	0.020185	0.15936	T	-0.198001	0.21093	T	-0.522191	0.20073	T	0.0397062115371227	0.03637	T	0.416058	0.11714	T	0.101587206	0.23998	0.18720521	0.41938	0.101587206	0.23997	0.18720521	0.41937	-4.932	0.36093	T	.	.	0.139	0.30423	B	.;.	.;.	1.528362	0.19615	14.35	0.98545553647874773	0.42783	0.17398	0.19820	N	AEFBCI	.	.	.	.	.	.	.	.	.	0.99998874717304	0.51787	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.15	1.17	0.19998	0.367000	0.20116	0.476000	0.18759	0.669000	0.69127	0.037000	0.20830	0.031000	0.21272	0.826000	0.38927	0.1206:0.406:0.4734:0.0	5.611	0.16684	32	0.98147	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1667	1168.04	33	chrX	49176001	.	G	T	1168.04	.	AC=2;AF=0.167;AN=12;DP=219;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;QD=29.2;SOR=1.445	GT:AD:DP:GQ:PL	1/1:0,40:40:99:1188,120,0	5	1	0	0
chrX	55146104	55146104	G	A	exonic	FAM104B	.	stopgain	FAM104B:NM_001166700:exon3:c.C331T:p.R111X,FAM104B:NM_001166701:exon3:c.C328T:p.R110X,FAM104B:NM_001166702:exon3:c.C319T:p.R107X,FAM104B:NM_001166703:exon3:c.C325T:p.R109X	.	438	7	893	184	0	1261	0.98902	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0005	0.0042	0	0	0.0002	7.025e-05	0	0.0001	0.0310669	4803	154602	rs1047054	7.297e-06	9.106e-06	9.533e-06	2.762e-06	3.791e-05	3.14e-06	2.27e-06	6.14e-06	2.3e-06	3.791e-05	0	0	0	0	0	5.942e-06	0	3.701e-05	1.802e-05	1.746e-05	1.286e-05	3.013e-05	0.0004	2.99e-06	1.12e-06	.	.	3.282e-05	0	0	0	0	0	0	0	0	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.984587	0.24787	N	.	.	.	.	.	.	.	.	.	0.121	0.18512	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.334032	0.85436	D	0.242037	0.85245	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.	.;.;.	4.503254	0.70449	25.5	0.92570320911590998	0.22025	0.23489	0.22092	N	AEFDGBIJ	.	.	.	.	.	.	.	.	.	0.999986651300857	0.51787	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.59	0.637	0.16907	1.269000	0.32677	-0.938000	0.06858	0.596000	0.33519	1.000000	0.71638	0.000000	0.08366	0.291000	0.24285	0.0:0.0:0.6198:0.3802	4.504	0.11285	314	0.87270	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.069015	0.068027	0.074212	0.055556	0.000000	0.094118	0.048673	0.068421	0.5	65345.6	579	chrX	55146104	.	G	A	65345.6	.	AC=6;AF=0.5;AN=12;BaseQRankSum=1.82;DP=2997;ExcessHet=11.5949;FS=0;MLEAC=6;MLEAF=0.5;MQ=60;MQRankSum=0;QD=22.62;ReadPosRankSum=0.944;SOR=0.738	GT:AD:DP:GQ:PL	0/1:59,369:428:99:9568,0,495	0	0	6	0
chrX	55146139	55146139	G	A	exonic	FAM104B	.	nonsynonymous SNV	FAM104B:NM_001166700:exon3:c.C296T:p.T99I,FAM104B:NM_001166701:exon3:c.C293T:p.T98I,FAM104B:NM_001166702:exon3:c.C284T:p.T95I,FAM104B:NM_001166703:exon3:c.C290T:p.T97I	.	392	597	530	3	0	536	0.309827	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.027	0.00183666452811	.	.	1.173e-05	0	0	0	0	2.144e-05	0	0	0.0003842	10	26028	rs111573608	0	2.735e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	8.719e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	.	.	.	1.2	0.37405	T	1.24	0.01024	N	0.218	0.30461	-0.9951	0.31272	T	0.031	0.13330	T	9	0.02422443	0.00659	T	0.001837	0.03193	T	0.027	0.05988	.	.	0.107399877778	0.10242	0.2636019881297539	0.26273	0.0855686498455	0.09666	.	.	.	.	.	.	-0.525263	0.00410	T	-0.99228	0.00154	T	0.0269564041948217	0.01537	T	0.618838	0.26722	T	.	.	.	.	.	.	.	.	-2.987	0.10042	T	.	.	0.077	0.10159	B	.;.;.	.;.;.	-0.509590	0.01836	0.146	0.55558757236298129	0.05367	0.01261	0.04425	N	AEFDGBIJ	.	.	.	.	.	.	.	.	.	0.999998720991634	0.74766	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.6	-3.2	0.04838	0.118000	0.15436	-7.508000	0.01142	-0.947000	0.02050	0.987000	0.36337	0.000000	0.08366	0.919000	0.45453	0.5556:0.0:0.4444:0.0	6.324	0.20437	314	0.87270	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.018776	0.006803	0.014842	0.027668	0.000000	0.023529	0.022124	0.021053	0.3	13620.6	581	chrX	55146139	.	G	A	13620.6	.	AC=3;AF=0.3;AN=10;BaseQRankSum=-0.573;DP=2951;ExcessHet=1.383;FS=1.119;MLEAC=3;MLEAF=0.3;MQ=60;MQRankSum=0;QD=9.33;ReadPosRankSum=0.753;SOR=0.666	GT:AD:DP:GQ:PL	0/1:190,259:449:99:6407,0,4346	2	0	3	1
chrX	55146173	55146173	G	A	exonic	FAM104B	.	nonsynonymous SNV	FAM104B:NM_001166700:exon3:c.C262T:p.P88S,FAM104B:NM_001166701:exon3:c.C259T:p.P87S,FAM104B:NM_001166702:exon3:c.C250T:p.P84S,FAM104B:NM_001166703:exon3:c.C256T:p.P86S	.	395	510	614	3	0	620	0.378049	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.021	0.00397070644289	.	.	0	0	0	0	0	0	0	0	0.0018057	47	26028	rs113745415	0	9.135e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	8.72e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.1	0.44029	T	0.019	0.59159	D	0.137	0.27402	B	0.013	0.16460	B	.	.	.	.	1	0.08975	N	.	.	.	1.03	0.40469	T	-0.15	0.09297	N	0.133	0.30461	-1.0449	0.15854	T	0.046	0.19680	T	9	0.10664967	0.19773	T	0.003971	0.09400	T	0.021	0.04004	.	.	0.0986583533028	0.09354	0.17703511721202211	0.17622	0.085900391515	0.09707	.	.	.	.	.	.	-0.47977	0.00741	T	-0.926933	0.00345	T	0.15306082367897	0.17345	T	0.714029	0.35027	T	.	.	.	.	.	.	.	.	-2.918	0.09324	T	.	.	0.099	0.18247	B	.;.;.	.;.;.	1.416818	0.18331	13.68	0.99268186498303135	0.57457	0.22113	0.21636	N	AEFDGBIJ	.	.	.	.	.	.	.	.	.	0.999986653019121	0.51787	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.6	0.635	0.16895	0.918000	0.28299	0.017000	0.13531	0.596000	0.33519	0.999000	0.42656	0.000000	0.08366	0.033000	0.13494	0.0:0.0:0.6213:0.3787	4.527	0.11390	314	0.87270	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.011073	0.020408	0.009276	0.003953	0.000000	0.035294	0.013274	0.005263	0.25	12864.0	505	chrX	55146173	.	G	A	12864.0	.	AC=3;AF=0.25;AN=12;BaseQRankSum=-1.369;DP=2600;ExcessHet=1.383;FS=0.534;MLEAC=3;MLEAF=0.25;MQ=60;MQRankSum=0;QD=9.54;ReadPosRankSum=0.439;SOR=0.623	GT:AD:DP:GQ:PL	0/1:178,228:406:99:5765,0,5322	3	0	3	0
chrX	55146197	55146197	G	A	exonic	FAM104B	.	stopgain	FAM104B:NM_001166699:exon3:c.C238T:p.Q80X,FAM104B:NM_001166700:exon3:c.C238T:p.Q80X,FAM104B:NM_001166701:exon3:c.C235T:p.Q79X,FAM104B:NM_001166702:exon3:c.C226T:p.Q76X,FAM104B:NM_001166703:exon3:c.C232T:p.Q78X,FAM104B:NM_138362:exon3:c.C235T:p.Q79X	.	397	483	637	5	0	647	0.401116	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0009	0.0037	0.0002	0.0034	0.0004	0.0003	0	0.0012	0.0033426	87	26028	rs113263757	2.052e-05	0.0007	3.012e-05	0	0.0002	1.343e-05	1.147e-05	5.37e-05	3.17e-05	0.0002	0	0	0.0001	0	0	1.458e-05	4.432e-05	1.939e-05	0	5.238e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	0.066869	0.21780	U	0.325359	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.281	0.36359	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.166988	0.70845	D	0.00208969	0.70471	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerant;.;Tolerant;.;.	High;.;High;.;.	5.479427	0.91365	32	0.96222129513840093	0.29091	0.25851	0.22822	N	AEFDGBIJ	.	.	.	.	.	.	.	.	.	0.999994922950989	0.74766	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.6	1.6	0.22686	1.881000	0.39273	1.530000	0.27153	0.596000	0.33519	0.820000	0.29989	0.004000	0.18990	0.022000	0.11911	0.0:0.0:1.0:0.0	6.091	0.19219	314	0.87270	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.038244	0.034014	0.051948	0.011858	0.000000	0.058824	0.026549	0.036842	0.25	11401.0	500	chrX	55146197	.	G	A	11401.0	.	AC=3;AF=0.25;AN=12;BaseQRankSum=1.09;DP=2440;ExcessHet=1.383;FS=0;MLEAC=3;MLEAF=0.25;MQ=60;MQRankSum=0;QD=9.65;ReadPosRankSum=0.782;SOR=0.686	GT:AD:DP:GQ:PL	0/1:164,197:361:99:5083,0,5056	3	0	3	0
chrX	55146212	55146212	C	T	exonic	FAM104B	.	nonsynonymous SNV	FAM104B:NM_001166699:exon3:c.G223A:p.D75N,FAM104B:NM_001166700:exon3:c.G223A:p.D75N,FAM104B:NM_001166701:exon3:c.G220A:p.D74N,FAM104B:NM_001166702:exon3:c.G211A:p.D71N,FAM104B:NM_001166703:exon3:c.G217A:p.D73N,FAM104B:NM_138362:exon3:c.G220A:p.D74N	.	432	10	1015	52	13	1132	0.982441	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.012	0.00302221843962	.	0.0013245	0.0001	0.0014	0	0	0	2.118e-05	0	0	0.0081067	211	26028	rs1047042	4.61e-06	4.563e-06	5.457e-06	2.843e-06	3.873e-05	1.35e-06	9.8e-07	6.25e-06	2.34e-06	3.873e-05	0	5.196e-05	0	0	0	1.202e-06	0	3.766e-05	9.039e-06	8.741e-06	1.287e-05	0	9.612e-05	0	0	.	.	0	0	9.612e-05	0	0	0	0	0	0	0	0.675	0.04495	T	1.0	0.06345	T	0.003	0.11197	B	0.0	0.04355	B	0.171170	0.17370	N	0.505297	1	0.08975	P	-0.49	0.02651	N	1.04	0.40218	T	0.87	0.01688	N	0.132	0.13626	-1.0454	0.15709	T	0.035	0.15160	T	9	0.0060353875	0.00136	T	0.003022	0.06487	T	0.012	0.01476	0.247	0.18293	0.0806252709748	0.07271	0.0651596601341745	0.06454	0.0775316632676	0.08717	0.25642067194	0.04473	T	0.008956	0.08187	T	-0.596363	0.00153	T	-1.09441	0.00031	T	0.0048729239977625	0.00052	T	0.519848	0.16911	T	0.03745953	0.04805	0.041539483	0.04745	0.03745953	0.04805	0.041539483	0.04745	-3.393	0.14963	T	.	.	0.058	0.00614	B	.;.;.;.;.	.;.;.;.;.	-0.711233	0.01295	0.069	0.1342819324597182	0.00264	0.00118	0.00744	N	AEFDGBIJ	.	.	.	.	.	.	.	.	.	0.999988775956904	0.51787	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.59	-1.04	0.09555	0.059000	0.14199	-2.996000	0.03156	-0.242000	0.07441	0.003000	0.16062	0.000000	0.08366	0.015000	0.10482	0.0:0.4679:0.0:0.5321	4.225	0.10030	314	0.87270	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	53661.6	433	chrX	55146212	.	C	T	53661.6	.	AC=6;AF=0.5;AN=12;BaseQRankSum=1.92;DP=2327;ExcessHet=11.5949;FS=3.075;MLEAC=6;MLEAF=0.5;MQ=60;MQRankSum=0;QD=24.65;ReadPosRankSum=1.95;SOR=0.466	GT:AD:DP:GQ:PL	0/1:67,257:324:99:7655,0,1022	0	0	6	0
chrX	55146214	55146214	G	A	exonic	FAM104B	.	nonsynonymous SNV	FAM104B:NM_001166699:exon3:c.C221T:p.P74L,FAM104B:NM_001166700:exon3:c.C221T:p.P74L,FAM104B:NM_001166701:exon3:c.C218T:p.P73L,FAM104B:NM_001166702:exon3:c.C209T:p.P70L,FAM104B:NM_001166703:exon3:c.C215T:p.P72L,FAM104B:NM_138362:exon3:c.C218T:p.P73L	.	380	1100	41	1	0	43	0.0191708	.	.	.	2333934	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.035	0.00876998388438	.	.	.	.	.	.	.	.	.	.	.	.	.	rs866839768	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.315	0.13789	T	0.12	0.67890	T	0.945	0.53279	P	0.851	0.71530	P	0.873191	0.07189	N	1.077440	1	0.08975	N	1.04	0.26193	L	1.07	0.39586	T	-0.45	0.14782	N	0.139	0.13769	-0.9995	0.30058	T	0.112	0.40029	T	10	0.054038584	0.05690	T	0.00877	0.23147	T	0.035	0.08770	0.339	0.32979	0.0920862733494	0.08535	0.15662812420360386	0.15583	0.455486312176	0.45221	0.226637601852	0.01728	T	0.01433	0.12223	T	-0.410012	0.01987	T	-0.826731	0.01321	T	0.0581960721379313	0.06881	T	0.710329	0.32115	T	0.04068161	0.05853	0.05239224	0.08621	0.04068161	0.05853	0.05239224	0.08621	-2.044	0.03351	T	.	.	0.102	0.18122	B	.;.;.;.;.	.;.;.;.;.	0.045960	0.04608	1.277	0.77836609989061178	0.12043	0.01031	0.03865	N	AEFDGBIJ	.	.	.	.	.	.	.	.	.	0.999987030541589	0.51787	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.6	-0.4	0.11793	0.840000	0.27253	-1.999000	0.04367	0.596000	0.33519	0.027000	0.20232	0.000000	0.08366	0.112000	0.18829	0.2252:0.0:0.4531:0.3218	1.897	0.03062	314	0.87270	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	530.83	287	chrX	55146214	.	G	A	530.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.081;DP=1770;ExcessHet=0;FS=1.929;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=1.65;ReadPosRankSum=0.256;SOR=0.858	GT:AD:DP:GQ:PL	0/1:273,48:321:99:541,0,9146	5	0	1	0
chrX	55146247	55146247	G	C	exonic	FAM104B	.	nonsynonymous SNV	FAM104B:NM_001166699:exon3:c.C188G:p.P63R,FAM104B:NM_001166700:exon3:c.C188G:p.P63R,FAM104B:NM_001166701:exon3:c.C185G:p.P62R,FAM104B:NM_001166702:exon3:c.C176G:p.P59R,FAM104B:NM_001166703:exon3:c.C182G:p.P61R,FAM104B:NM_138362:exon3:c.C185G:p.P62R	.	398	590	530	4	0	538	0.313155	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.133	0.0130273709953	.	.	.	.	.	.	.	.	.	.	0.0032657	85	26028	rs111638770	9.115e-07	9.107e-07	1.361e-06	0	1.848e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.848e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.006	0.72224	D	0.752	0.77913	P	0.071	0.79672	B	0.181519	0.17089	U	0.482281	1	0.18198	N	1.79	0.46772	L	0.49	0.55775	T	-6.46	0.91956	D	0.329	0.36989	-0.9561	0.39898	T	0.213	0.57334	T	10	0.25765532	0.43183	T	0.013027	0.32109	T	0.133	0.36157	0.439	0.49321	0.176091768786	0.17195	0.15725273701375614	0.15646	0.462644719079	0.45794	0.299729704857	0.10360	T	0.09323	0.39168	T	-0.104812	0.35627	T	-0.388332	0.34746	T	0.953682541847229	0.64085	D	0.80372	0.51656	T	0.38991144	0.60026	0.48550862	0.70220	0.38991144	0.60026	0.48550862	0.70221	-3.385	0.15177	T	.	.	0.146	0.32275	B	.;.;.;.;.	.;.;.;.;.	2.836954	0.37416	20.5	0.99573153193770736	0.72501	0.41324	0.26632	N	AEFDGBI	.	.	.	.	.	.	.	.	.	0.999994922950989	0.74766	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.6	1.6	0.22686	2.239000	0.42728	2.405000	0.32612	0.596000	0.33519	0.999000	0.42656	0.987000	0.30940	0.973000	0.55318	0.0:0.0:1.0:0.0	6.091	0.19219	314	0.87270	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.013879	0.020408	0.018553	0.003953	0.000000	0.023529	0.013274	0.005263	0.25	9842.03	287	chrX	55146247	.	G	C	9842.03	.	AC=3;AF=0.25;AN=12;BaseQRankSum=-2.304;DP=1610;ExcessHet=1.383;FS=0;MLEAC=3;MLEAF=0.25;MQ=60;MQRankSum=0;QD=12.3;ReadPosRankSum=-0.989;SOR=0.68	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:134,116:250:99:0|1:55146247_G_C:4333,0,5207:55146247	3	0	3	0
chrX	55146252	55146252	-	T	exonic	FAM104B	.	frameshift insertion	FAM104B:NM_001166699:exon3:c.182_183insA:p.S61Rfs*13,FAM104B:NM_001166700:exon3:c.182_183insA:p.S61Rfs*13,FAM104B:NM_001166701:exon3:c.179_180insA:p.S60Rfs*13,FAM104B:NM_001166702:exon3:c.170_171insA:p.S57Rfs*13,FAM104B:NM_001166703:exon3:c.176_177insA:p.S59Rfs*13,FAM104B:NM_138362:exon3:c.179_180insA:p.S60Rfs*13	.	390	569	526	3	34	566	0.318563	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	9457.99	287	chrX	55146252	.	A	AT	9457.99	.	AC=3;AF=0.25;AN=12;BaseQRankSum=1.01;DP=1561;ExcessHet=1.383;FS=1.167;MLEAC=3;MLEAF=0.25;MQ=60;MQRankSum=0;QD=12.36;ReadPosRankSum=-1.072;SOR=0.577	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:133,111:244:99:0|1:55146247_G_C:4174,0,5221:55146247	3	0	3	0
chrX	55146254	55146254	T	C	exonic	FAM104B	.	nonsynonymous SNV	FAM104B:NM_001166699:exon3:c.A181G:p.S61G,FAM104B:NM_001166700:exon3:c.A181G:p.S61G,FAM104B:NM_001166701:exon3:c.A178G:p.S60G,FAM104B:NM_001166702:exon3:c.A169G:p.S57G,FAM104B:NM_001166703:exon3:c.A175G:p.S59G,FAM104B:NM_138362:exon3:c.A178G:p.S60G	.	431	15	1050	26	0	1102	0.973498	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.075	0.0041360361776	.	.	0	0	0	0	0	0	0	0	0.0095666	249	26028	rs1047037	9.142e-07	4.651e-05	1.362e-06	0	1.191e-06	0	0	.	.	0	0	0	0	0	0	1.191e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	0.53172	D	0.115	0.36630	T	0.18	0.29046	B	0.013	0.26930	B	0.022656	0.26593	N	0.266251	1	0.08975	N	1.125	0.28843	L	0.62	0.53302	T	-3.25	0.65972	D	0.165	0.17691	-1.0460	0.15534	T	0.083	0.32556	T	10	0.08577216	0.14513	T	0.004136	0.09900	T	0.075	0.21907	0.066	0.00312	0.141422826196	0.13715	0.08695167493373998	0.08629	0.0811463258042	0.09130	0.299347400665	0.10303	T	0.051814	0.28986	T	-0.403148	0.02207	T	-0.816871	0.01517	T	0.062755441338216	0.07595	T	0.529347	0.19916	T	0.15294263	0.34692	0.18436645	0.41484	0.15294263	0.34692	0.18436645	0.41484	-4.147	0.26024	T	.	.	0.074	0.04932	B	.;.;.;.;.	.;.;.;.;.	0.505601	0.08746	5.521	0.88816084291515585	0.18278	0.01111	0.04064	N	AEFDGBI	.	.	.	.	.	.	.	.	.	0.999988486351367	0.51787	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.59	-0.917	0.09952	0.342000	0.19669	0.018000	0.13546	0.587000	0.30956	0.001000	0.13787	0.000000	0.08366	0.925000	0.46118	0.0:0.4736:0.0:0.5264	4.198	0.09911	314	0.87270	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	24838.6	282	chrX	55146254	.	T	C	24838.6	.	AC=6;AF=0.5;AN=12;BaseQRankSum=0.631;DP=1584;ExcessHet=11.5949;FS=4.096;MLEAC=6;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.91;ReadPosRankSum=-0.626;SOR=0.461	GT:AD:DP:GQ:PL	0/1:170,65:235:99:1408,0,6710	0	0	6	0
chrX	55146256	55146256	G	-	exonic	FAM104B	.	frameshift deletion	FAM104B:NM_001166699:exon3:c.179delC:p.A60Efs*8,FAM104B:NM_001166700:exon3:c.179delC:p.A60Efs*8,FAM104B:NM_001166701:exon3:c.176delC:p.A59Efs*8,FAM104B:NM_001166702:exon3:c.167delC:p.A56Efs*8,FAM104B:NM_001166703:exon3:c.173delC:p.A58Efs*8,FAM104B:NM_138362:exon3:c.176delC:p.A59Efs*8	.	387	620	513	2	0	517	0.294252	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	8785.99	213	chrX	55146255	.	TG	T	8785.99	.	AC=3;AF=0.25;AN=12;BaseQRankSum=-0.956;DP=1346;ExcessHet=1.383;FS=2.594;MLEAC=3;MLEAF=0.25;MQ=60;MQRankSum=0;QD=12.14;ReadPosRankSum=-1.311;SOR=0.547	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:130,105:235:99:0|1:55146247_G_C:4018,0,5143:55146247	3	0	3	0
chrX	55146275	55146275	T	G	exonic	FAM104B	.	nonsynonymous SNV	FAM104B:NM_001166699:exon3:c.A160C:p.I54L,FAM104B:NM_001166700:exon3:c.A160C:p.I54L,FAM104B:NM_001166701:exon3:c.A157C:p.I53L,FAM104B:NM_001166702:exon3:c.A148C:p.I50L,FAM104B:NM_001166703:exon3:c.A154C:p.I52L,FAM104B:NM_138362:exon3:c.A157C:p.I53L	.	427	21	1052	22	0	1096	0.963093	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.098	0.0118030854457	.	.	1.142e-05	0	0	0	0	2.088e-05	0	0	0.0196828	3043	154602	rs1047034	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.051	0.47828	T	0.105	0.26966	B	0.068	0.39904	B	0.152569	0.17919	U	0.451659	1	0.08975	N	1.955	0.52871	M	0.27	0.59176	T	-1.83	0.45042	N	0.551	0.57690	-0.8632	0.51032	T	0.155	0.48687	T	10	0.1871016	0.34206	T	0.011803	0.29782	T	0.098	0.28162	0.189	0.09907	0.0884992946249	0.08302	0.12338101866159702	0.12264	0.0928677804986	0.10486	0.449103206396	0.31821	T	0.163737	0.50891	T	-0.214808	0.18708	T	-0.546333	0.17678	T	0.224603921175003	0.21691	T	0.758424	0.38228	T	0.50850886	0.67592	0.29124478	0.55149	0.50850886	0.67593	0.29124478	0.55148	-2.996	0.10138	T	.	.	0.123	0.25689	B	.;.;.;.;.	.;.;.;.;.	1.130701	0.15173	11.64	0.8192711395344332	0.13930	0.34538	0.25091	N	AEFDGBI	.	.	.	.	.	.	.	.	.	0.999989777015944	0.51787	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.59	-1.26	0.08892	0.742000	0.25884	-6.329000	0.01429	-0.214000	0.08267	1.000000	0.71638	0.000000	0.08366	0.065000	0.16320	0.0:0.5197:0.0:0.4803	4.529	0.11402	314	0.87270	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.000688	0.000000	0.000000	0.000000	0.000000	0.000000	0.004425	0.000000	0.5	25538.6	211	chrX	55146275	.	T	G	25538.6	.	AC=6;AF=0.5;AN=12;BaseQRankSum=0.452;DP=1243;ExcessHet=11.5949;FS=13.632;MLEAC=6;MLEAF=0.5;MQ=59.99;MQRankSum=0;QD=22.82;ReadPosRankSum=-3.49;SOR=0.389	GT:AD:DP:GQ:PL	0/1:58,125:183:99:3824,0,1820	0	0	6	0
chrX	74591813	74591813	G	A	exonic	RLIM	.	nonsynonymous SNV	RLIM:NM_016120:exon4:c.C1502T:p.S501L,RLIM:NM_183353:exon5:c.C1502T:p.S501L	Mental retardation, X-linked 61, X-linked recessive	9	1490	23	0	0	23	0.00765901	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.132	0.00392722355489	.	.	0.0002	0.0001	0	0	0	0.0002	0	0.0005	3.84e-05	1	26028	rs200629905	9.112e-07	2.732e-06	1.361e-06	0	1.188e-06	0	0	.	.	0	0	0	0	0	0	1.188e-06	0	0	1.841e-05	0.0001	2.588e-05	0	3.351e-05	3.06e-06	1.15e-06	.	.	3.351e-05	0	0	0	0	0	0	1.925e-05	0	0	0.42	0.09836	T	0.382	0.15890	T	0.0	0.02946	B	0.0	0.01387	B	0.264373	0.15251	N	0.666655	0.949983	0.37675	D	0.75	0.19020	N	3.03	0.08898	T	-0.73	0.20576	N	0.123	0.11483	-1.0706	0.09282	T	0.025	0.10598	T	10	0.013200998	0.00281	T	0.003927	0.09274	T	0.132	0.35948	.	.	0.474660930215	0.47096	0.4159198749435835	0.41507	0.659223824986	0.58794	0.605702996254	0.53710	T	0.099372	0.40412	T	-0.300593	0.08604	T	-0.669557	0.07637	T	0.123469986021519	0.14766	T	0.649135	0.25986	T	0.103400156	0.24439	0.122803114	0.29618	0.103400156	0.24438	0.122803114	0.29617	-7.457	0.57308	T	0.06091627704634275	0.01704	0.072	0.04198	B	.;.	.;.	1.715856	0.21849	15.37	0.81488155183217736	0.13710	0.91941	0.54595	D	AEFBCI	.	.	.	.	.	.	.	.	.	0.999021295674977	0.38237	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.41	4.55	0.55429	2.957000	0.48830	4.344000	0.43067	-0.113000	0.14837	0.998000	0.41325	1.000000	0.68203	0.948000	0.49324	0.0772:0.0:0.9228:0.0	13.469	0.60726	99	0.95913	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.035865	0.095238	0.024119	0.019763	0.071429	0.035294	0.044248	0.026316	0.1667	104.06	113	chrX	74591813	.	G	A	104.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-2.512;DP=372;ExcessHet=0.4139;FS=0;MLEAC=2;MLEAF=0.167;MQ=58.53;MQRankSum=-4.285;QD=1.06;ReadPosRankSum=-2.139;SOR=0.755	GT:AD:DP:GQ:PL	0/1:38,6:44:65:65,0,1333	4	0	2	0
chrX	74591904	74591904	A	G	exonic	RLIM	.	nonsynonymous SNV	RLIM:NM_016120:exon4:c.T1411C:p.S471P,RLIM:NM_183353:exon5:c.T1411C:p.S471P	Mental retardation, X-linked 61, X-linked recessive	9	1217	293	0	3	296	0.107444	.	.	.	706313	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.240	.	.	.	0.0029	0.0116	0.0005	0	0.0003	0.0029	0	0.0019	0.0113453	1754	154602	rs201164156	0.0008	0.0027	0.0011	0	0.0013	0.0007	0.0007	0.0009	0.0008	0.0013	0.0003	0.0003	0.0002	0.0021	0.0008	0.0008	0.0009	0.0001	0.0005	0.0047	0.0008	0	0.0009	0.0004	0.0004	0.0004	0.0003	0.0006	0	0.0005	0.0004	0.0009	0.0005	0	0.0005	0.0007	0.0004	0.21	0.19639	T	0.328	0.18675	T	0.842	0.46562	P	0.1	0.30674	B	0.514165	0.11812	U	0.638142	1	0.08975	N	1.7	0.43825	L	-1.96	0.85091	D	-0.25	0.11008	N	0.207	0.22998	-0.7951	0.55432	T	0.216	0.57836	T	10	0.006244242	0.00141	T	.	.	.	0.240	0.54500	.	.	.	.	0.4665592874844735	0.46574	0.934645105114	0.71975	0.607906699181	0.54020	T	0.132362	0.46240	T	-0.0295646	0.47480	T	-0.280244	0.46779	T	0.0105822094544231	0.00148	T	0.430157	0.11673	T	0.09892091	0.23338	0.13853694	0.33082	0.09892091	0.23338	0.13853694	0.33082	-7.284	0.56081	T	0.3542269034747019	0.45119	0.098	0.16231	B	.;.	.;.	0.643466	0.10120	6.865	0.20867452940731573	0.00770	0.09317	0.15097	N	AEFGBCI	.	.	.	.	.	.	.	.	.	0.920848692020125	0.26649	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.66	0.088	0.13764	0.990000	0.29242	2.406000	0.32617	0.756000	0.94297	0.212000	0.24446	0.201000	0.23571	0.004000	0.06068	0.5962:0.4038:0.0:0.0	3.724	0.07997	99	0.95913	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0.100000	0.136054	0.068646	0.102767	0.071429	0.058824	0.132743	0.089474	0.4167	1794.52	292	chrX	74591904	.	A	G	1794.52	.	AC=5;AF=0.417;AN=12;BaseQRankSum=-3.819;DP=1024;ExcessHet=6.1542;FS=1.974;MLEAC=5;MLEAF=0.417;MQ=58.81;MQRankSum=-12.53;QD=1.82;ReadPosRankSum=3.49;SOR=0.477	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:96,19:115:99:0|1:74591902_T_A:509,0,3974:74591902	1	0	5	0
chrX	74591957	74591957	C	T	exonic	RLIM	.	nonsynonymous SNV	RLIM:NM_016120:exon4:c.G1358A:p.S453N,RLIM:NM_183353:exon5:c.G1358A:p.S453N	Mental retardation, X-linked 61, X-linked recessive	10	1315	197	0	0	197	0.0696852	.	.	.	2752745	Intellectual_disability,_X-linked_61	MONDO:MONDO:0010506,MedGen:C4283894,OMIM:300978	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.158	0.22060859109	.	.	0	0	0	0	0	0	0	0	7.68e-05	2	26028	rs201787580	2.754e-06	0.0004	4.09e-06	0	3.589e-06	7.3e-07	2e-07	9.6e-07	2.7e-07	0	0	0	0	0	0	3.589e-06	0	0	2.789e-05	0.0021	3.904e-05	0	9.85e-05	7.41e-06	3.06e-06	6.46e-06	2.42e-06	0	0	9.85e-05	0	0	0	0	3.895e-05	0	0	0.257	0.16738	T	0.499	0.11227	T	0.0	0.02946	B	0.0	0.01387	B	0.016982	0.27835	N	0.389770	1	0.08975	N	0.685	0.16464	N	-1.6	0.82165	D	-0.42	0.14193	N	0.236	0.26596	-0.8724	0.50349	T	0.310	0.68066	T	10	0.122223884	0.23183	T	0.220609	0.87766	D	0.158	0.41098	.	.	0.557858568325	0.55445	0.312164728673577	0.31129	0.692380051853	0.60661	0.502812802792	0.39220	T	0.172441	0.52093	T	-0.174656	0.24534	T	-0.488658	0.23531	T	0.0512267297337718	0.05713	T	0.508649	0.16166	T	0.07587642	0.17124	0.10946825	0.26384	0.07587642	0.17124	0.10946825	0.26384	-6.705	0.51848	T	.	.	0.087	0.11606	B	.;.	.;.	0.832856	0.12043	8.599	0.64009249238066646	0.07376	0.44947	0.27430	N	AEFGBCI	.	.	.	.	.	.	.	.	.	0.995911489112744	0.34405	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.98	4.1	0.47196	0.741000	0.25870	0.022000	0.13604	0.599000	0.40250	0.101000	0.22814	0.000000	0.08366	0.960000	0.51673	0.0:0.8818:0.0:0.1182	7.602	0.27251	99	0.95913	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.004828	0.013605	0.001855	0.007905	0.000000	0.000000	0.008850	0.000000	0.1667	836.06	37	chrX	74591957	.	C	T	836.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-0.726;DP=418;ExcessHet=0.4139;FS=5.348;MLEAC=2;MLEAF=0.167;MQ=58.46;MQRankSum=-9.671;QD=3.09;ReadPosRankSum=-2.525;SOR=1.11	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:113,14:127:99:0|1:74591902_T_A:248,0,4601:74591902	4	0	2	0
chrX	93673154	93673156	TGC	-	exonic	NAP1L3	.	nonframeshift deletion	NAP1L3:NM_004538:exon1:c.149_151del:p.S50del	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0572	.	0.0074	0.0070	0.0143	0.0081	0.0033	0.0068	0.0084	0.0049	0.0001921	5	26028	rs748285907	8.938e-05	0.0045	0.0001	5.422e-05	0.0004	7.478e-05	6.949e-05	0.0003	0.0002	0.0002	0.0001	0.0001	0.0004	0.0004	0	5.573e-05	2.218e-05	0.0002	4.515e-05	0.0001	6.448e-05	0	0.0003	1.72e-05	1.059e-05	1.084e-05	4.05e-06	6.547e-05	0	0	0	0.0003	0	0	3.794e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	34.79	44	chrX	93673153	.	GTGC	G	34.79	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.337;DP=237;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=1.16;ReadPosRankSum=0.861;SOR=0.752	GT:AD:DP:GQ:PL	0/1:27,3:30:45:45,0,1115	5	0	1	0
chrX	100296324	100296324	T	G	exonic	PCDH19	.	nonsynonymous SNV	PCDH19:NM_001105243:exon5:c.A3259C:p.N1087H,PCDH19:NM_020766:exon5:c.A3256C:p.N1086H,PCDH19:NM_001184880:exon6:c.A3400C:p.N1134H	Epileptic encephalopathy, early infantile, 9, X-linked	.	.	.	.	.	.	.	.	.	.	195290	not_specified|not_provided|Developmental_and_epileptic_encephalopathy,_9|Inborn_genetic_diseases|PCDH19-related_disorder	MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0010246,MedGen:C1848137,OMIM:300088,Orphanet:101039,Orphanet:2076|MeSH:D030342,MedGen:C0950123|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.061	.	.	0.00423841	0.0013	0	0.0001	0.0170	0	2.084e-05	0	0	0.0011513	178	154602	rs141816797	0.0007	0.0007	0.0007	0.0007	0.0244	0.0007	0.0006	0.0229	0.0224	0	0	0	0.0244	0	0.0002	1.544e-05	0.0003	9.235e-05	0.0006	0.0006	0.0006	0.0005	0.0173	0.0005	0.0004	0.0138	0.0126	3.24e-05	0	9.411e-05	0	0.0173	0	0	0	0.0007	0	0.185	0.28271	T	0.156	0.31833	T	0.07	0.26429	B	0.045	0.31021	B	0.003655	0.34662	N	0.334506	0.999903	0.19694	N	0	0.06538	N	0.65	0.52642	T	-0.61	0.18248	N	0.146	0.14763	-1.0462	0.15476	T	0.046	0.19640	T	10	0.0046945214	0.00099	T	.	.	.	0.061	0.17616	.	.	0.47098275866	0.46727	0.059731641648048	0.05913	0.522592563707	0.49982	0.274045228958	0.06676	T	0.027375	0.20061	T	-0.741719	0.00020	T	-0.823924	0.01375	T	0.0126845625994233	0.00213	T	0.614838	0.23473	T	0.06481957	0.13790	0.08523895	0.19667	0.07068339	0.15589	0.0712635	0.15237	-3.93	0.23353	T	.	.	0.087	0.11269	B	.;.;.	.;.;.	0.750142	0.11199	7.833	0.74957377138636383	0.10891	0.87704	0.47333	D	AEFDGBHI	.	.	.	.	.	.	.	.	.	0.644964838093454	0.22092	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.52	2.8	0.31881	3.007000	0.49223	0.842000	0.22053	-2.857000	0.00171	0.992000	0.37556	0.292000	0.24171	0.776000	0.36750	0.0:0.6705:0.12:0.2095	7.269	0.25419	505	0.75648	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.1667	1337.04	34	chrX	100296324	.	T	G	1337.04	.	AC=2;AF=0.167;AN=12;DP=218;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;QD=29.71;SOR=1.154	GT:AD:DP:GQ:PL	1/1:0,45:45:99:1357,134,0	5	1	0	0
chrX	103500108	103500108	T	C	exonic	RAB40A	.	nonsynonymous SNV	RAB40A:NM_080879:exon3:c.A649G:p.T217A	.	0	1520	1	1	0	3	0.000985869	.	.	.	2327667	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.045	0.000749242658125	.	.	.	.	.	.	.	.	.	.	7.68e-05	2	26028	rs201466501	0.0006	0.0010	0.0004	0.0010	0.0046	0.0006	0.0005	0.0030	0.0025	0.0002	0.0001	0	0.0003	0.0003	0.0046	0.0007	0.0003	0.0005	0.0005	0.0005	0.0005	0.0003	0.0007	0.0004	0.0003	0.0006	0.0005	0.0003	0	0	0	0.0003	0.0003	0	0.0007	0	0	1.0	0.00964	T	0.732	0.05128	T	0.0	0.02946	B	0.0	0.01387	B	0.040445	0.24057	N	0.157981	0.999938	0.19363	N	-0.035	0.05024	N	1.04	0.40218	T	0.15	0.05310	N	0.055	0.02658	-1.0106	0.26729	T	0.028	0.11882	T	10	0.052396297	0.05268	T	7.49E-4	0.00529	T	0.045	0.12272	.	.	0.701518117412	0.69893	0.07523847369235283	0.07459	0.790129032098	0.65737	0.325451135635	0.14246	T	0.00107	0.00595	T	-0.740552	0.00020	T	-1.00938	0.00122	T	0.00820716696809511	0.00098	T	0.561944	0.19701	T	0.02895921	0.02314	0.051735375	0.08386	0.02895921	0.02313	0.051735375	0.08385	-3.439	0.15587	T	.	.	0.054	0.00382	B	.;.	.;.	-0.370680	0.02325	0.248	0.24587499384108685	0.01094	0.06076	0.12049	N	AEFGI	.	.	.	.	.	.	.	.	.	0.020826391137973	0.13294	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.225	-0.451	0.11604	1.049000	0.30001	0.575000	0.19646	-0.685000	0.04181	0.969000	0.34210	0.481000	0.25102	0.082000	0.17360	0.0:0.6754:0.0:0.3246	4.462	0.11088	264	0.89640	SOCS box domain|SOCS box domain|SOCS box domain|SOCS box domain;SOCS box domain|SOCS box domain|SOCS box domain|SOCS box domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.1667	1680.04	34	chrX	103500108	.	T	C	1680.04	.	AC=2;AF=0.167;AN=12;DP=210;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.167;MQ=40.87;QD=28.25;SOR=1.329	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,38:38:99:1|1:103500108_T_C:1700,114,0:103500108	5	1	0	0
chrX	103500110	103500110	C	A	exonic	RAB40A	.	nonsynonymous SNV	RAB40A:NM_080879:exon3:c.G647T:p.S216I	.	0	1520	1	1	0	3	0.000985869	.	.	.	2318063	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.110	0.00113995960731	.	.	.	.	.	.	.	.	.	.	7.68e-05	2	26028	rs200647197	0.0006	0.0010	0.0004	0.0010	0.0048	0.0006	0.0005	0.0032	0.0027	0.0002	0.0001	0	0.0003	0.0003	0.0048	0.0007	0.0003	0.0005	0.0004	0.0005	0.0005	0.0003	0.0007	0.0003	0.0003	0.0005	0.0005	0.0003	0	0	0	0.0003	0.0002	0	0.0007	0	0	0.377	0.11298	T	0.236	0.24694	T	0.0	0.02946	B	0.0	0.01387	B	0.135365	0.02842	N	10.000100	0.999992	0.08975	N	-0.69	0.01958	N	0.84	0.47477	T	0.44	0.03243	N	0.067	0.03956	-1.0211	0.23357	T	0.058	0.24167	T	10	0.05337599	0.05519	T	0.00114	0.01410	T	0.110	0.31079	.	.	0.584859779323	0.58159	0.08681265634083288	0.08615	0.943704141384	0.72318	0.35770714283	0.19050	T	0.001953	0.01365	T	-0.684735	0.00045	T	-0.929202	0.00335	T	0.0127723858185158	0.00217	T	0.050295	0.00357	T	0.05126436	0.09387	0.06071687	0.11608	0.05126436	0.09386	0.06071687	0.11608	-5.785	0.44443	T	.	.	0.082	0.08512	B	.;.	.;.	-0.639942	0.01466	0.090	0.38936727241777819	0.02656	0.02828	0.07569	N	AEFGI	.	.	.	.	.	.	.	.	.	0.959111409780341	0.28405	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.225	-0.451	0.11604	2.233000	0.42672	-1.185000	0.06085	-2.838000	0.00176	0.943000	0.32764	0.000000	0.08366	0.035000	0.13729	0.5906:0.2044:0.0:0.205	3.335	0.06682	264	0.89640	SOCS box domain|SOCS box domain|SOCS box domain|SOCS box domain;SOCS box domain|SOCS box domain|SOCS box domain|SOCS box domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.1667	1680.04	34	chrX	103500110	.	C	A	1680.04	.	AC=2;AF=0.167;AN=12;DP=210;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.167;MQ=40.87;QD=31.09;SOR=1.329	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,38:38:99:1|1:103500108_T_C:1700,114,0:103500108	5	1	0	0
chrX	119470141	119470141	G	A	exonic	SLC25A5	.	nonsynonymous SNV	SLC25A5:NM_001152:exon2:c.G592A:p.A198T	.	440	1071	11	0	0	11	0.00510915	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.626	0.0422452456037	.	.	0	0	0	0	0	0	0	0	3.84e-05	1	26028	rs774207033	5.866e-06	0.0003	8.394e-06	0	3.541e-05	2.11e-06	1.39e-06	4.2e-07	1.6e-07	0	3.541e-05	0	0	9.036e-05	0	2.503e-06	0	0	7.094e-05	0.0034	7.49e-05	5.609e-05	0.0003	3.044e-05	2.07e-05	6.123e-05	3.641e-05	0.0002	0	0.0003	0	0	0	0	0	0	0	0.13	0.26740	T	0.144	0.33109	T	0.498	0.37115	P	0.245	0.38823	B	0.000000	0.84330	D	0.000000	1	0.81001	D	1.115	0.28702	L	-1.17	0.78199	T	-2.59	0.55821	D	0.719	0.72120	-0.2970	0.75068	T	0.352	0.71596	T	10	0.72078604	0.73648	D	0.042245	0.60361	D	0.626	0.85563	.	.	0.967689624617	0.96734	0.9664814949107903	0.96636	1.29258716038	0.82837	0.757040023804	0.75488	T	0.552921	0.84894	D	0.236262	0.77308	D	0.101598	0.77013	D	0.96561986207962	0.67322	D	0.833317	0.50212	T	0.57796586	0.71497	0.4841953	0.70141	0.57796586	0.71498	0.4841953	0.70141	-8.729	0.65936	D	.	.	0.251	0.48521	B	.	.	4.253037	0.64575	24.7	0.9975711473580986	0.84772	0.97638	0.76075	D	AEFDGBCI	.	.	.	.	.	.	.	.	.	0.999999999999992	0.74766	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.34	4.34	0.51267	9.567000	0.97303	7.019000	0.57259	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.888000	0.42677	0.0:0.0:1.0:0.0	15.717	0.77439	728	0.54609	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1	40.7	92	chrX	119470141	.	G	A	40.7	.	AC=1;AF=0.1;AN=10;BaseQRankSum=0.468;DP=499;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.1;MQ=58.68;MQRankSum=-8.456;QD=0.56;ReadPosRankSum=-2.885;SOR=0.665	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:67,6:73:50:0|1:119469962_G_A:50,0,2795:119469962	4	0	1	1
chrX	131084670	131084670	C	G	exonic	ARHGAP36	.	nonsynonymous SNV	ARHGAP36:NM_001330651:exon5:c.C385G:p.R129G,ARHGAP36:NM_001282607:exon6:c.C757G:p.R253G,ARHGAP36:NM_144967:exon6:c.C793G:p.R265G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.258	0.0293794279955	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.007	0.78490	D	0.0	0.92824	D	0.922	0.51142	P	0.605	0.50945	P	0.000895	0.41231	D	0.109896	0.999699	0.48338	D	2.615	0.76484	M	2.06	0.46777	T	-6.8	0.92903	D	0.517	0.55886	-0.6683	0.61905	T	0.224	0.58754	T	10	0.7753822	0.77416	D	0.029379	0.51898	D	0.258	0.56959	0.698	0.83499	0.66452580712	0.66170	0.9453132115751715	0.94513	1.19150631811	0.80291	0.3948828578	0.24356	T	0.21724	0.57964	T	0.075264	0.61482	D	-0.129665	0.61000	T	0.890982270240784	0.54187	D	0.880312	0.62289	D	0.4401018	0.63409	0.3546556	0.61006	0.4401018	0.63410	0.3546556	0.61005	-8.484	0.64323	D	.	.	0.195	0.53495	B	.;.;.;.;.;.	.;.;.;.;.;.	2.071162	0.26338	17.08	0.98070221553732895	0.38023	0.64025	0.32274	D	AEFBCI	.	.	.	.	.	.	.	.	.	0.568346382690659	0.21471	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.99	2.51	0.29435	2.135000	0.41735	4.152000	0.42155	-0.569000	0.04791	0.984000	0.35821	0.998000	0.33993	0.020000	0.11549	0.619:0.381:0.0:0.0	8.563	0.32684	512	0.75040	Rho GTPase-activating protein domain|Rho GTPase-activating protein domain|Rho GTPase-activating protein domain;.;Rho GTPase-activating protein domain;.;Rho GTPase-activating protein domain|Rho GTPase-activating protein domain|Rho GTPase-activating protein domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1667	602.04	42	chrX	131084670	.	C	G	602.04	.	AC=2;AF=0.167;AN=12;DP=198;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;QD=31.69;SOR=0.793	GT:AD:DP:GQ:PL	1/1:0,19:19:57:622,57,0	5	1	0	0
chrX	140783789	140783806	GTCTTCCAGAAAATCCAT	-	exonic	CDR1	.	nonframeshift deletion	CDR1:NM_004065:exon1:c.561_578del:p.W191_F196del	.	11	1501	9	1	0	11	0.00365085	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0007	0.0005	0.0006	0.0002	0	0.0006	0.0016	0.0024	0.0006727	104	154602	rs747072025	0.0007	0.0007	0.0006	0.0008	0.0028	0.0007	0.0006	0.0024	0.0023	0.0003	0.0003	0.0001	6.624e-05	2.471e-05	0.0005	0.0007	0.0007	0.0028	0.0005	0.0006	0.0006	0.0005	0.0019	0.0004	0.0004	0.0007	0.0006	0.0003	0	0.0002	0	0.0003	0	0	0.0008	0.0007	0.0019	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	3188.01	36	chrX	140783788	.	CGTCTTCCAGAAAATCCAT	C	3188.01	.	AC=2;AF=0.167;AN=12;DP=270;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;QD=27.85;SOR=1.103	GT:AD:DP:GQ:PL	1/1:0,73:73:99:3208,224,0	5	1	0	0
chrX	149715766	149715766	A	C	exonic	MAGEA11	.	nonsynonymous SNV	MAGEA11:NM_001011544:exon5:c.A193C:p.I65L,MAGEA11:NM_005366:exon5:c.A280C:p.I94L	.	430	1075	11	6	0	23	0.0105844	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.018	.	0.0014	0.000264901	0.0020	0.0004	0.0032	0	0	0.0020	0.0101	0.0041	0.0018952	293	154602	rs147749342	0.0022	0.0022	0.0021	0.0022	0.0106	0.0021	0.0021	0.0081	0.0072	0.0003	0.0026	0.0033	0	2.49e-05	0.0106	0.0021	0.0025	0.0047	0.0015	0.0016	0.0017	0.0012	0.0034	0.0014	0.0013	0.0021	0.0020	0.0002	0	0.0016	0.0011	0	0.0002	0.0046	0.0025	0.0026	0.0034	0.013	0.53900	D	0.381	0.38305	T	0.321	0.33029	B	0.06	0.26717	B	.	.	.	.	1	0.08975	N	0	0.06538	N	4.18	0.02743	T	-0.43	0.15379	N	0.047	0.05670	-0.9015	0.47835	T	0.006	0.02055	T	8	0.0061427653	0.00138	T	.	.	.	0.018	0.03083	.	.	0.082315109003	0.07666	0.07611475215732207	0.07547	0.260128891351	0.28580	0.457748889923	0.33001	T	0.013082	0.11383	T	-0.755777	0.00016	T	-0.859554	0.00848	T	0.00487596827098097	0.00052	T	0.443756	0.12347	T	0.16413273	0.36600	0.12596667	0.30345	0.16413273	0.36600	0.12596667	0.30344	-2.203	0.04055	T	.	.	0.152	0.35372	B	.;.;.	.;.;.	0.487042	0.08561	5.329	0.87150379569825132	0.17024	0.03665	0.08926	N	AEFDGBCI	.	.	.	.	.	.	.	.	.	0.364461467694814	0.19809	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.88	0.88	0.18296	-0.670000	0.05357	.	.	0.561000	0.28422	0.000000	0.06391	0.000000	0.08366	0.127000	0.19450	.	.	.	681	0.59854	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.010323	0.006803	0.009276	0.011858	0.000000	0.023529	0.008850	0.010526	0.1667	2141.04	73	chrX	149715766	.	A	C	2141.04	.	AC=2;AF=0.167;AN=12;DP=322;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;QD=33.45;SOR=1.044	GT:AD:DP:GQ:PL	1/1:0,64:64:99:2161,192,0	5	1	0	0
chrX	153320578	153320578	C	A	exonic	PNMA6F	.	stopgain	PNMA6F:NM_001354980:exon2:c.G97T:p.E33X	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000794702	.	.	.	.	.	.	.	.	0.0006916	18	26028	rs782324082	0.0024	0.0012	0.0022	0.0028	0.0037	0.0022	0.0021	0.0019	0.0018	0.0002	0.0012	0.0081	0	0.0061	0.0011	0.0021	0.0017	0.0037	0.0018	0.0018	0.0016	0.0021	0.0038	0.0016	0.0015	0.0021	0.0017	0.0003	0	0.0002	0.0094	0	0.0057	0	0.0022	0	0.0038	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.041	0.01421	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.162322	0.94700	34	0.76904644374033926	0.11656	0.03818	0.09157	N	AEFDBI	.	.	.	.	.	.	.	.	.	0.968399315750044	0.29049	.	.	.	.	.	.	.	.	.	.	.	.	0.102731	0.22603	2.63	2.63	0.30420	0.299000	0.18892	.	.	0.329000	0.19528	0.000000	0.06391	0.000000	0.08366	0.230000	0.22734	0.0:1.0:0.0:0.0	7.955	0.29199	162	0.93704	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1667	1053.04	41	chrX	153320578	.	C	A	1053.04	.	AC=2;AF=0.167;AN=12;DP=307;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.167;MQ=46.77;QD=31.91;SOR=0.752	GT:AD:DP:GQ:PL	1/1:0,33:33:99:1073,99,0	5	1	0	0
chrX	154532990	154532990	C	T	exonic	G6PD	.	nonsynonymous SNV	G6PD:NM_000402:exon9:c.G1093A:p.A365T,G6PD:NM_001042351:exon9:c.G1003A:p.A335T,G6PD:NM_001360016:exon9:c.G1003A:p.A335T	Favism, Autosomal dominant;Hemolytic anemia due to G6PD deficiency, X-linked recessive	0	1498	15	9	0	33	0.0108947	.	.	YES	25402	Inborn_genetic_diseases|Anemia,_nonspherocytic_hemolytic,_due_to_G6PD_deficiency|Malaria,_susceptibility_to|G6PD_CHATHAM|G6PD-related_disorder|not_provided	MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0010480,MedGen:C2720289,OMIM:300908,Orphanet:466026|MONDO:MONDO:0021024,MedGen:C1970028,OMIM:611162,Orphanet:673|.|.|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.609	0.640463473904	9.5e-05	.	0.0002	0	0.0001	0.0002	0	0.0001	0.0016	0.0007	0.0001811	28	154602	rs5030869	0.0001	0.0001	9.529e-05	0.0002	0.0022	0.0001	0.0001	0.0014	0.0013	0	0	0	0	0	0.0022	3.563e-05	0.0004	0.0017	7.98e-05	7.825e-05	7.708e-05	8.587e-05	0.0018	4.146e-05	3.011e-05	0.0007	0.0005	0	0	0	0	0	0	0	7.524e-05	0	0.0018	0.003	0.68238	D	0.009	0.70582	D	0.961	0.55431	D	0.632	0.51815	P	0.000000	0.84330	D	0.000000	0.999204	0.46326	D	1.83	0.48079	L	-4.86	0.98263	D	-0.84	0.22944	N	0.512	0.54322	1.016	0.97462	D	0.924	0.97493	D	10	0.2626309	0.43733	T	0.640463	0.96934	D	0.609	0.84666	.	.	0.992300379967	0.99221	0.8653505156550084	0.86500	1.81731878846	0.91879	0.608502745628	0.54105	T	0.753592	0.93267	D	0.170001	0.71124	D	0.430885	0.93071	D	0.076977080891245	0.09596	T	0.884712	0.60854	D	0.8069284	0.84352	0.7171555	0.83304	0.8257544	0.85611	0.75738084	0.85663	-7.3	0.56622	T	0.3153788254411631	0.41341	0.298	0.63352	B	.;.;.;.;.	.;.;.;.;.	2.540493	0.32863	19.17	0.99848937268831928	0.92838	0.45951	0.27652	N	AEFDBCI	.	.	.	.	.	.	.	.	.	0.999999456961947	0.74766	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.77	5.77	0.91077	0.969000	0.28967	3.211000	0.36801	0.581000	0.30040	0.460000	0.26644	0.997000	0.33255	0.179000	0.21265	0.0:0.83:0.17:0.0	11.968	0.52337	80	0.96670	Glucose-6-phosphate dehydrogenase, C-terminal;Glucose-6-phosphate dehydrogenase, C-terminal;Glucose-6-phosphate dehydrogenase, C-terminal;.;Glucose-6-phosphate dehydrogenase, C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.002069	0.000000	0.000000	0.007905	0.000000	0.000000	0.000000	0.005263	0.1667	2745.04	33	chrX	154532990	.	C	T	2745.04	.	AC=2;AF=0.167;AN=12;DP=287;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;QD=31.19;SOR=0.836	GT:AD:DP:GQ:PL	1/1:0,88:88:99:2765,264,0	5	1	0	0