Chr	Start	End	Ref	Alt	Func.refGene	Gene.refGene	GeneDetail.refGene	ExonicFunc.refGene	AAChange.refGene	Xref.refGene	Maybe_Pathogenic	NC_fgh	WT_fgh	HZ_fgh	HH_fgh	Other_fgh	FGH_1522	FGH_MAF	dbscSNV_ADA_SCORE	dbscSNV_RF_SCORE	CLNALLELEID	CLNDN	CLNDISDB	CLNREVSTAT	CLNSIG	ONCDN	ONCDISDB	ONCREVSTAT	ONC	SCIDN	SCIDISDB	SCIREVSTAT	SCI	SIFT_score	SIFT_pred	Polyphen2_HDIV_score	Polyphen2_HDIV_pred	Polyphen2_HVAR_score	Polyphen2_HVAR_pred	LRT_score	LRT_pred	MutationTaster_score	MutationTaster_pred	MutationAssessor_score	MutationAssessor_pred	FATHMM_score	FATHMM_pred	RadialSVM_score	RadialSVM_pred	LR_score	LR_pred	VEST3_score	CADD_raw	CADD_phred	GERP++_RS	phyloP46way_placental	phyloP100way_vertebrate	SiPhy_29way_logOdds	REVEL	MCAP	esp6500siv2_all	1000g2015aug_all	ExAC_ALL	ExAC_AFR	ExAC_AMR	ExAC_EAS	ExAC_FIN	ExAC_NFE	ExAC_OTH	ExAC_SAS	Kaviar_AF	Kaviar_AC	Kaviar_AN	avsnp151	gnomad41_exome_AF	gnomad41_exome_AF_raw	gnomad41_exome_AF_XX	gnomad41_exome_AF_XY	gnomad41_exome_AF_grpmax	gnomad41_exome_faf95	gnomad41_exome_faf99	gnomad41_exome_fafmax_faf95_max	gnomad41_exome_fafmax_faf99_max	gnomad41_exome_AF_afr	gnomad41_exome_AF_amr	gnomad41_exome_AF_asj	gnomad41_exome_AF_eas	gnomad41_exome_AF_fin	gnomad41_exome_AF_mid	gnomad41_exome_AF_nfe	gnomad41_exome_AF_remaining	gnomad41_exome_AF_sas	gnomad41_genome_AF	gnomad41_genome_AF_raw	gnomad41_genome_AF_XX	gnomad41_genome_AF_XY	gnomad41_genome_AF_grpmax	gnomad41_genome_faf95	gnomad41_genome_faf99	gnomad41_genome_fafmax_faf95_max	gnomad41_genome_fafmax_faf99_max	gnomad41_genome_AF_afr	gnomad41_genome_AF_ami	gnomad41_genome_AF_amr	gnomad41_genome_AF_asj	gnomad41_genome_AF_eas	gnomad41_genome_AF_fin	gnomad41_genome_AF_mid	gnomad41_genome_AF_nfe	gnomad41_genome_AF_remaining	gnomad41_genome_AF_sas	SIFT_score.1	SIFT_converted_rankscore	SIFT_pred.1	SIFT4G_score	SIFT4G_converted_rankscore	SIFT4G_pred	Polyphen2_HDIV_score.1	Polyphen2_HDIV_rankscore	Polyphen2_HDIV_pred.1	Polyphen2_HVAR_score.1	Polyphen2_HVAR_rankscore	Polyphen2_HVAR_pred.1	LRT_score.1	LRT_converted_rankscore	LRT_pred.1	LRT_Omega	MutationTaster_score.1	MutationTaster_converted_rankscore	MutationTaster_pred.1	MutationAssessor_score.1	MutationAssessor_rankscore	MutationAssessor_pred.1	FATHMM_score.1	FATHMM_converted_rankscore	FATHMM_pred.1	PROVEAN_score	PROVEAN_converted_rankscore	PROVEAN_pred	VEST4_score	VEST4_rankscore	MetaSVM_score	MetaSVM_rankscore	MetaSVM_pred	MetaLR_score	MetaLR_rankscore	MetaLR_pred	Reliability_index	MetaRNN_score	MetaRNN_rankscore	MetaRNN_pred	M-CAP_score	M-CAP_rankscore	M-CAP_pred	REVEL_score	REVEL_rankscore	MutPred_score	MutPred_rankscore	MVP_score	MVP_rankscore	gMVP_score	gMVP_rankscore	MPC_score	MPC_rankscore	PrimateAI_score	PrimateAI_rankscore	PrimateAI_pred	DEOGEN2_score	DEOGEN2_rankscore	DEOGEN2_pred	BayesDel_addAF_score	BayesDel_addAF_rankscore	BayesDel_addAF_pred	BayesDel_noAF_score	BayesDel_noAF_rankscore	BayesDel_noAF_pred	ClinPred_score	ClinPred_rankscore	ClinPred_pred	LIST-S2_score	LIST-S2_rankscore	LIST-S2_pred	VARITY_R_score	VARITY_R_rankscore	VARITY_ER_score	VARITY_ER_rankscore	VARITY_R_LOO_score	VARITY_R_LOO_rankscore	VARITY_ER_LOO_score	VARITY_ER_LOO_rankscore	ESM1b_score	ESM1b_rankscore	ESM1b_pred	EVE_score	EVE_rankscore	AlphaMissense_score	AlphaMissense_rankscore	AlphaMissense_pred	Aloft_pred	Aloft_Confidence	CADD_raw.1	CADD_raw_rankscore	CADD_phred.1	DANN_score	DANN_rankscore	fathmm-MKL_coding_score	fathmm-MKL_coding_rankscore	fathmm-MKL_coding_pred	fathmm-MKL_coding_group	fathmm-XF_coding_score	fathmm-XF_coding_rankscore	fathmm-XF_coding_pred	Eigen-raw_coding	Eigen-raw_coding_rankscore	Eigen-phred_coding	Eigen-PC-raw_coding	Eigen-PC-raw_coding_rankscore	Eigen-PC-phred_coding	GenoCanyon_score	GenoCanyon_rankscore	integrated_fitCons_score	integrated_fitCons_rankscore	integrated_confidence_value	GM12878_fitCons_score	GM12878_fitCons_rankscore	GM12878_confidence_value	H1-hESC_fitCons_score	H1-hESC_fitCons_rankscore	H1-hESC_confidence_value	HUVEC_fitCons_score	HUVEC_fitCons_rankscore	HUVEC_confidence_value	LINSIGHT	LINSIGHT_rankscore	GERP++_NR	GERP++_RS.1	GERP++_RS_rankscore	phyloP100way_vertebrate.1	phyloP100way_vertebrate_rankscore	phyloP470way_mammalian	phyloP470way_mammalian_rankscore	phyloP17way_primate	phyloP17way_primate_rankscore	phastCons100way_vertebrate	phastCons100way_vertebrate_rankscore	phastCons470way_mammalian	phastCons470way_mammalian_rankscore	phastCons17way_primate	phastCons17way_primate_rankscore	SiPhy_29way_pi	SiPhy_29way_logOdds.1	SiPhy_29way_logOdds_rankscore	bStatistic	bStatistic_converted_rankscore	Interpro_domain	GTEx_V8_eQTL_gene	GTEx_V8_eQTL_tissue	GTEx_V8_sQTL_gene	GTEx_V8_sQTL_tissue	eQTLGen_snp_id	InterVar_automated	PVS1	PS1	PS2	PS3	PS4	PM1	PM2	PM3	PM4	PM5	PM6	PP1	PP2	PP3	PP4	PP5	BA1	BS1	BS2	BS3	BS4	BP1	BP2	BP3	BP4	BP5	BP6	BP7	Otherinfo1	Otherinfo2	Otherinfo3	Otherinfo4	Otherinfo5	Otherinfo6	Otherinfo7	Otherinfo8	Otherinfo9	Otherinfo10	Otherinfo11	Otherinfo12	NSWES947	WT	HH	HZ	NC
chr1	961713	961713	A	G	exonic	KLHL17	.	nonsynonymous SNV	KLHL17:NM_198317:exon3:c.A452G:p.Y151C,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.000	D	1.000	D	4.365	H	-2.5	D	1.057	D	0.897	D	0.974	4.607	25.1	4.8	1.942	7.391	14.667	0.959	0.549374566591	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.849e-07	6.84e-07	1.363e-06	0	8.997e-07	0	0	.	.	0	0	0	0	0	0	8.997e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.998	0.88582	D	0.000000	0.84330	D	0.000000	1	0.81001	D	4.775	0.99607	H	-2.5	0.89219	D	-8.74	0.97699	D	0.984	0.99337	1.057	0.98274	D	0.897	0.96568	D	10	0.99302083	0.99836	D	0.549375	0.95839	D	0.959	0.99346	0.942	0.99232	0.989901456234	0.98978	0.9373324288885125	0.93713	.	.	0.903543889523	0.96822	D	0.790679	0.94559	D	0.470316	0.93350	D	0.438	0.93266	D	0.999738276004791	0.98729	D	0.982302	0.94028	D	0.7896467	0.83251	0.7424313	0.84775	0.7896467	0.83252	0.7424313	0.84776	-14.47	0.94484	D	0.9192538620809828	0.96448	0.996	0.95832	P	.	.	5.238645	0.87945	29.4	0.99821085918306973	0.90414	0.97322	0.74021	D	AEFDGBCI	0.926755	0.90838	D	0.941947664799034	0.93658	12.18732	0.80843112995739	0.90374	10.37787	0.99999999999725	0.74766	0.660085	0.49399	0	0.662677	0.63036	0	0.493711	0.08198	1	0.604282	0.37693	0	.	.	4.8	4.8	0.61157	5.989000	0.70262	.	.	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.695000	0.33988	1.0:0.0:0.0:0.0	14.667	0.68522	923	0.18507	BTB/POZ domain|BTB/POZ domain|BTB/POZ domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2161.98	33	chr1	961713	.	A	G	2161.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.89;DP=872;ExcessHet=0.0000;FS=0.642;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.90;ReadPosRankSum=-2.340e+00;SOR=0.774	GT:AD:DP:GQ:PL	0/1:56,80:136:99:2176,0,1312	20	0	1	0
chr1	1084051	1084051	G	C	exonic	C1orf159	.	nonsynonymous SNV	C1orf159:NM_001363525:exon10:c.C804G:p.D268E	.	.	382	1138	2	0	0	2	0.000877963	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.756	P	0.621	P	.	.	1.000	N	.	.	.	.	-1.019	T	0.043	T	0.097	2.701	14.99	-2.2	-0.688	-2.224	0.348	0.064	0.000769294842027	0.0003	0.000798722	0.0012	0	0.0004	0	0	0.0004	0	0.0065	0.0007568	117	154602	rs139486403	0.0005	0.0005	0.0003	0.0006	0.0049	0.0005	0.0004	0.0045	0.0043	0	0.0005	0.0007	0	1.916e-05	0.0014	0.0002	0.0006	0.0049	0.0004	0.0004	0.0004	0.0003	0.0031	0.0003	0.0003	0.0019	0.0015	0.0001	0	0.0003	0	0	0	0.0102	0.0004	0.0009	0.0031	0.0	0.91255	D	.	.	.	0.756	0.43409	P	0.621	0.51426	P	.	.	.	.	1	0.08975	N	0	0.06538	N	.	.	.	-0.01	0.07155	N	0.154	0.19325	-1.0194	0.23910	T	0.043	0.18368	T	7	0.0047748685	0.00101	T	7.69E-4	0.00568	T	0.073	0.21317	0.36	0.36385	0.0401082797425	0.02173	0.020974745217271534	0.02050	.	.	.	.	.	0.012211	0.10776	T	-0.575734	0.00204	T	-0.599238	0.12875	T	0.0506100060091721	0.05607	T	0.253875	0.03902	T	0.06546738	0.13995	0.06208382	0.12090	0.06546738	0.13995	0.06208382	0.12089	-3.352	0.14417	T	.	.	0.168	0.42007	B	.;.	.;.	-0.055341	0.03916	0.864	0.9792880709905859	0.36942	0.01739	0.05491	N	AEFBI	0.060844	0.11592	N	-1.00426551216051	0.08514	0.3995237	-1.22508515018952	0.05509	0.2626976	0.16251574577235	0.17615	0.700653	0.57754	0	0.633656	0.55848	0	0.717052	0.78885	0	0.655142	0.61905	0	.	.	2.76	-2.2	0.06601	-1.361000	0.02704	-0.198000	0.10972	-0.241000	0.07509	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.2803:0.1993:0.3181:0.2023	0.348	0.00322	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	0.02381	1623.98	34	chr1	1084051	.	G	C	1623.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.630e-01;DP=827;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.69;ReadPosRankSum=-7.960e-01;SOR=0.752	GT:AD:DP:GQ:PL	0/1:63,65:128:99:1638,0,1651	20	0	1	0
chr1	1290519	1290519	G	A	exonic	SCNN1D	.	nonsynonymous SNV	SCNN1D:NM_001130413:exon14:c.G1823A:p.R608Q,	.	.	417	1091	14	0	0	14	0.00637523	.	.	2805474	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.2	T	0.589	P	0.111	B	0.926	N	1.000	N	0.53	N	-0.03	T	-1.058	T	0.074	T	0.124	0.495	6.683	-2.94	-0.812	-0.607	5.674	0.031	0.0541114475248	0.0054	0.00339457	0.0051	0.0013	0.0028	0.0001	0.0026	0.0069	0.0022	0.0059	0.0049611	767	154602	rs79943571	0.0070	0.0070	0.0069	0.0070	0.0088	0.0068	0.0068	0.0077	0.0077	0.0014	0.0029	0.0044	0.0002	0.0022	0.0088	0.0079	0.0067	0.0063	0.0060	0.0060	0.0057	0.0062	0.0094	0.0056	0.0055	0.0088	0.0086	0.0012	0.0757	0.0044	0.0040	0.0002	0.0024	0.0137	0.0094	0.0043	0.0054	0.174	0.29158	T	0.222	0.25748	T	.	.	.	.	.	.	0.925910	0.07505	N	1.044700	1	0.08975	N	1.17	0.29769	L	-0.03	0.63077	T	-1.41	0.36189	N	0.153	0.19728	-1.0575	0.12388	T	0.074	0.29802	T	10	0.0038484335	0.00073	T	0.054111	0.65732	D	0.031	0.07369	.	.	0.0846915920261	0.08053	0.18032344744737763	0.17951	.	.	0.221378445625	0.01391	T	.	.	.	-0.547262	0.00303	T	-0.548493	0.17470	T	0.003118240097714	0.00033	T	0.687331	0.29630	T	0.030601373	0.02753	0.039406244	0.04027	0.030601373	0.02752	0.039406244	0.04026	-5.843	0.45324	T	.	.	0.073	0.06250	B	.;.;.;.	.;.;.;.	0.221893	0.06040	2.484	0.90238736089972771	0.19511	0.03595	0.08819	N	AEFDBHCI	0.049300	0.08503	N	-1.48145707732993	0.01980	0.08699464	-1.56568900248761	0.01870	0.08524145	0.999004600004806	0.38186	0.653496	0.48692	0	0.858003	0.99906	0	0.596874	0.31795	0	0.599892	0.37169	0	.	.	4.05	-2.94	0.05245	-0.431000	0.07034	-0.850000	0.07182	-1.037000	0.01675	0.000000	0.06391	0.000000	0.08366	0.022000	0.11911	0.5162:0.0:0.3499:0.1339	5.674	0.17010	779	0.47767	.;.;.;.	B3GALT6|B3GALT6	Cells_Cultured_fibroblasts|Nerve_Tibial	SDF4|SDF4|SDF4|SDF4|SDF4|SDF4|SDF4|SDF4|SDF4|SDF4|SDF4	Adipose_Subcutaneous|Adipose_Visceral_Omentum|Artery_Aorta|Artery_Tibial|Brain_Amygdala|Cells_Cultured_fibroblasts|Esophagus_Mucosa|Nerve_Tibial|Nerve_Tibial|Skin_Sun_Exposed_Lower_leg|Whole_Blood	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.04762	5190.11	42	chr1	1290519	.	G	A	5190.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=3.39;DP=1090;ExcessHet=0.1072;FS=5.597;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=15.09;ReadPosRankSum=1.30;SOR=0.594	GT:AD:DP:GQ:PL	0/1:82,113:195:99:3021,0,1650	19	0	2	0
chr1	2591992	2591992	G	T	exonic	MMEL1	.	nonsynonymous SNV	MMEL1:NM_033467:exon22:c.C2103A:p.D701E,	.	.	410	1077	34	1	0	36	0.0164384	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.006	B	0.047	B	0.000	D	0.978	N	-1.125	N	-2.27	D	-0.746	T	0.119	T	0.083	-0.671	1.067	-3.73	-0.301	-0.154	0.592	0.202	.	0.0002	0.00479233	0.0039	0.0003	0.0020	0	0.0009	0.0007	0.0068	0.0234	0.0032923	509	154602	rs139941953	0.0020	0.0020	0.0012	0.0027	0.0241	0.0019	0.0019	0.0233	0.0229	0.0002	0.0017	0.0004	5.038e-05	0.0016	0.0087	0.0004	0.0023	0.0241	0.0013	0.0013	0.0008	0.0017	0.0245	0.0011	0.0011	0.0209	0.0195	4.815e-05	0	0.0020	0.0003	0.0002	0.0010	0.0034	0.0004	0.0024	0.0245	1.0	0.00964	T	1.0	0.01155	T	0.006	0.13644	B	0.047	0.24832	B	0.000104	0.50451	D	0.169147	0.978157	0.25267	N	-0.8	0.01622	N	-2.27	0.87433	D	1.2	0.01551	N	0.116	0.13626	-0.7463	0.58128	T	0.119	0.41799	T	10	0.0022487938	0.00033	T	.	.	.	0.202	0.48754	0.318	0.29581	0.15556083564	0.15200	0.336983864726798	0.33611	0.197538282878	0.22128	0.356063842773	0.18811	T	0.251541	0.62180	T	-0.500915	0.00565	T	-0.474053	0.25082	T	0.00519120197706073	0.00056	T	0.641436	0.25361	T	0.02935999	0.02419	0.039899465	0.04190	0.02935999	0.02418	0.039899465	0.04190	-0.089	0.00382	T	.	.	0.265	0.49950	B	.;.	.;.	0.215240	0.05983	2.423	0.81869607158816715	0.13902	0.08265	0.14217	N	AEFDBI	0.128674	0.24654	N	-1.30047499016735	0.03671	0.1643771	-1.22291144834836	0.05543	0.264422	0.997556911042802	0.35751	0.554377	0.28877	0	0.547309	0.14657	0	0.576033	0.28219	0	0.567892	0.33627	0	.	.	3.86	-3.73	0.04112	-0.229000	0.09106	-1.143000	0.06203	0.676000	0.76740	0.100000	0.22794	0.000000	0.08366	0.948000	0.49324	0.2739:0.3106:0.2003:0.2152	0.592	0.00682	835	0.38313	Peptidase M13, C-terminal domain;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	861.98	34	chr1	2591992	.	G	T	861.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.05;DP=807;ExcessHet=0.0000;FS=0.780;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.71;ReadPosRankSum=-1.210e-01;SOR=0.800	GT:AD:DP:GQ:PL	0/1:64,35:99:99:876,0,1646	20	0	1	0
chr1	7933282	7933282	T	C	exonic	TNFRSF9	.	nonsynonymous SNV	TNFRSF9:NM_001561:exon7:c.A559G:p.I187V,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.88	T	0.002	B	0.001	B	0.031	N	1.000	N	0.46	N	3.34	T	-0.965	T	0.008	T	0.041	-0.002	4.003	-6.6	-1.007	-4.202	1.562	0.009	0.00270495129526	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	1.0	0.06147	T	0.002	0.09854	B	0.001	0.04355	B	0.030551	0.01722	N	2.226600	1	0.08975	N	0.22	0.09567	N	3.34	0.38883	T	-0.08	0.08187	N	0.064	0.03613	-0.9649	0.38230	T	0.008	0.02926	T	10	0.039113462	0.02377	T	0.002705	0.05550	T	0.009	0.00846	0.276	0.22845	0.0954503805726	0.09146	0.14244755294639133	0.14167	0.0755766024316	0.08479	0.303215026855	0.10881	T	0.091535	0.38816	T	-0.396887	0.02426	T	-0.807877	0.01713	T	0.0528059709509316	0.05985	T	0.343166	0.08297	T	0.014398486	0.00092	0.024658427	0.00489	0.014398486	0.00092	0.024658427	0.00489	-3.107	0.11376	T	.	.	0.082	0.20117	B	.;.;.	.;.;.	-2.656894	0.00022	0.001	0.31864493878579497	0.01817	0.00640	0.02800	N	AEFBI	0.053752	0.09712	N	-1.55403076293908	0.01511	0.06599016	-1.62642963533454	0.01502	0.06801238	0.1723792661722	0.17755	0.554377	0.28877	0	0.588066	0.40923	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	4.43	-6.6	0.01657	-4.246000	0.00304	-7.248000	0.01198	-0.123000	0.13640	0.000000	0.06391	0.000000	0.08366	0.131000	0.19607	0.269:0.3775:0.1367:0.2167	1.562	0.02441	804	0.43891	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.2778	864.06	40	chr1	7933282	.	T	C	864.06	.	AC=10;AF=0.278;AN=36;BaseQRankSum=-3.070e-01;DP=693;ExcessHet=6.5132;FS=112.254;InbreedingCoeff=-0.4232;MLEAC=12;MLEAF=0.333;MQ=60.00;MQRankSum=0.00;QD=2.69;ReadPosRankSum=0.238;SOR=9.320	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:37,12:49:59:.:.:59,0,649	8	0	10	3
chr1	9263899	9263899	G	A	exonic	H6PD	.	nonsynonymous SNV	H6PD:NM_001282587:exon5:c.G1439A:p.R480Q	Cortisone reductase deficiency 1, Autosomal recessive	.	0	1519	3	0	0	3	0.000986518	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3	T	0.293	B	0.012	B	0.004	N	0.601	D	1.15	L	-4.79	D	0.754	D	0.817	D	0.129	1.015	9.147	3.65	1.339	1.618	8.889	0.294	0.0775704964753	7.7e-05	0.000599042	0.0006	0.0002	0.0003	0.0012	0.0003	0.0003	0.0022	0.0018	0.0005175	80	154602	rs113495544	0.0005	0.0005	0.0005	0.0005	0.0022	0.0005	0.0005	0.0019	0.0018	0.0002	6.708e-05	0	0.0009	0.0003	0.0005	0.0004	0.0006	0.0022	0.0003	0.0003	0.0002	0.0004	0.0021	0.0002	0.0002	0.0011	0.0009	9.617e-05	0	0.0001	0	0.0012	9.409e-05	0	0.0003	0.0005	0.0021	0.137	0.25979	T	0.329	0.18617	T	0.293	0.32367	B	0.012	0.16012	B	0.004350	0.33837	N	0.309965	0.60101	0.32538	D	1.88	0.49984	L	-4.79	0.98155	D	-0.43	0.14390	N	0.121	0.11340	0.754	0.93837	D	0.817	0.93837	D	10	0.023808092	0.00634	T	0.07757	0.72802	D	0.294	0.61388	.	.	0.930398057052	0.92968	0.6697532558374796	0.66913	0.121683234402	0.13713	0.274798035622	0.06777	T	0.410571	0.76527	T	-0.272951	0.11430	T	-0.171328	0.57322	T	0.0123805072382815	0.00202	T	0.885211	0.61002	D	0.049661968	0.08852	0.048384745	0.07176	0.042618237	0.06496	0.045431316	0.06112	-3.551	0.17153	T	0.14569753126488172	0.16748	0.065	0.02038	B	.;.	.;.	2.192358	0.27955	17.64	0.98839003859135965	0.47085	0.81664	0.41023	D	AEFDBI	0.141296	0.26343	N	-0.3253260754567	0.28189	1.552782	-0.241289407841994	0.30073	1.690122	0.997636835498697	0.35843	0.732398	0.92422	0	0.743671	0.97443	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	5.53	3.65	0.40985	1.664000	0.37055	1.890000	0.29511	0.676000	0.76740	0.967000	0.34061	0.975000	0.29991	0.746000	0.35646	0.2291:0.0:0.7709:0.0	8.889	0.34585	894	0.26265	Glucose-6-phosphate dehydrogenase, C-terminal;Glucose-6-phosphate dehydrogenase, C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2143.98	37	chr1	9263899	.	G	A	2143.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.492;DP=1234;ExcessHet=0.0000;FS=0.551;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.11;ReadPosRankSum=-2.582e+00;SOR=0.673	GT:AD:DP:GQ:PL	0/1:88,89:177:99:2158,0,2066	20	0	1	0
chr1	10326244	10326244	G	C	exonic	KIF1B	.	nonsynonymous SNV	KIF1B:NM_015074:exon25:c.G2671C:p.E891Q	Pheochromocytoma, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.21	T	0.989	D	0.969	D	0.000	D	1.000	D	1.355	L	-0.82	T	-0.170	T	0.498	T	0.639	3.746	19.02	5.6	2.633	9.476	19.620	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	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.3095	11777.12	34	chr1	10326244	.	G	C	11777.12	.	AC=13;AF=0.310;AN=42;BaseQRankSum=-6.149e+00;DP=3631;ExcessHet=11.8493;FS=235.795;InbreedingCoeff=-0.4483;MLEAC=13;MLEAF=0.310;MQ=60.00;MQRankSum=0.00;QD=4.35;ReadPosRankSum=0.590;SOR=13.423	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:174,46:220:99:0|1:10326244_G_C:234,0,5830:10326244	8	0	13	0
chr1	12253770	12253770	A	G	exonic	VPS13D	.	nonsynonymous SNV	VPS13D:NM_015378:exon7:c.A613G:p.I205V	.	.	438	1066	18	0	0	18	0.00837209	.	.	1545717	VPS13D-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	1	T	0.0	B	0.002	B	0.001	D	1.000	D	-0.09	N	0.81	T	-1.018	T	0.031	T	0.104	-0.064	3.688	1.84	0.054	1.087	5.551	0.047	0.00188998524225	0.0028	0.00179712	0.0025	0.0003	0.0021	0.0001	0.0002	0.0036	0.0033	0.0015	0.0025938	401	154602	rs61774897	0.0031	0.0031	0.0030	0.0032	0.0064	0.0030	0.0030	0.0048	0.0042	0.0004	0.0025	0.0157	0	0.0002	0.0064	0.0032	0.0034	0.0020	0.0023	0.0023	0.0023	0.0024	0.0044	0.0021	0.0021	0.0036	0.0033	0.0005	0	0.0044	0.0138	0	9.409e-05	0.0102	0.0030	0.0028	0.0014	.	.	.	0.84	0.03610	T	0.0	0.02946	B	0.001	0.06944	B	0.000832	0.41547	D	0.216253	0.975897	0.25407	N	-0.735	0.01762	N	.	.	.	.	.	.	0.217	0.24385	-1.0181	0.24334	T	0.031	0.13418	T	10	0.010130167	0.00227	T	0.00189	0.03325	T	.	.	.	.	0.043077524339	0.03247	0.14933114223322055	0.14855	.	.	0.303793847561	0.10970	T	0.057816	0.30670	T	-0.574703	0.00207	T	-0.595963	0.13153	T	0.00350162121524744	0.00037	T	0.653935	0.26417	T	0.041209448	0.06027	0.03329593	0.02200	0.042531952	0.06467	0.025643606	0.00617	-2.375	0.04982	T	0.13253507610897544	0.14139	0.064	0.01668	B	.;.	.;.	0.704139	0.10728	7.420	0.51522997681267424	0.04578	0.58479	0.30653	D	AEFBI	0.057484	0.10712	N	-0.905339394498752	0.10715	0.5134602	-0.700824040664418	0.16940	0.8984954	0.76011316289932	0.23495	0.562547	0.31514	0	0.546412	0.12157	0	0.608884	0.39905	0	0.635551	0.53088	0	.	.	5.48	1.84	0.24348	1.119000	0.30872	-0.066000	0.12360	-0.041000	0.17446	1.000000	0.71638	0.000000	0.08366	0.946000	0.48989	0.5772:0.1361:0.2867:0.0	5.551	0.16378	862	0.33134	Vacuolar protein sorting-associated protein 13, second N-terminal domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1762.98	36	chr1	12253770	.	A	G	1762.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.542e+00;DP=840;ExcessHet=0.0000;FS=2.844;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.45;ReadPosRankSum=-6.700e-02;SOR=0.499	GT:AD:DP:GQ:PL	0/1:75,79:154:99:1777,0,1821	20	0	1	0
chr1	12617260	12617260	G	C	exonic	DHRS3	.	nonsynonymous SNV	DHRS3:NM_004753:exon1:c.C89G:p.P30R,	.	.	418	1103	1	0	0	1	0.000453104	.	.	3205886	DHRS3-related_disorder	.	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.07	T	0.828	P	0.462	P	0.000	D	1.000	D	0	N	-1.81	D	-0.084	T	0.408	T	0.85	2.875	15.58	5.05	2.322	8.068	17.392	0.677	.	.	0.00379393	0.0017	0	8.711e-05	0	0	0	0	0.0121	0.0014424	223	154602	rs201969624	0.0007	0.0007	0.0004	0.0009	0.0105	0.0006	0.0006	0.0099	0.0097	0	2.236e-05	0	0	0	0.0002	1.799e-06	0.0007	0.0105	0.0004	0.0004	0.0002	0.0006	0.0114	0.0003	0.0003	0.0090	0.0081	2.405e-05	0	0	0	0	0	0	0	0	0.0114	.	.	.	0.309	0.19782	T	0.049	0.22227	B	0.026	0.20792	B	0.000030	0.55875	D	0.161574	1	0.81001	D	0	0.06538	N	.	.	.	.	.	.	0.809	0.80473	-0.0836	0.80473	T	0.408	0.75755	T	10	0.0089383125	0.00202	T	.	.	.	.	.	0.514	0.61307	0.732522252441	0.73014	0.6734769297853236	0.67285	.	.	0.785039544106	0.79689	T	0.537696	0.84114	D	0.0143206	0.53614	T	0.258182	0.86007	D	0.175289324701182	0.18933	T	0.784022	0.42156	T	0.49588695	0.66852	0.48465723	0.70169	0.49588695	0.66853	0.48465723	0.70169	-8.353	0.63451	D	.	.	0.256	0.49038	B	.	.	4.503553	0.70462	25.5	0.9815845267713641	0.38755	0.92451	0.55742	D	ALL	0.938801	0.93850	D	0.105087753481729	0.46700	2.906372	0.292643043109012	0.55109	3.674321	1.0	0.98316	0.733237	0.96898	0	0.706955	0.78570	0	0.52208	0.10781	0	0.621717	0.48901	0	.	.	5.05	5.05	0.67566	8.466000	0.90239	11.240000	0.90396	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:1.0:0.0	17.392	0.87323	843	0.36859	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1247.98	35	chr1	12617260	.	G	C	1247.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.341;DP=853;ExcessHet=0.0000;FS=2.266;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.83;ReadPosRankSum=-2.610e-01;SOR=0.892	GT:AD:DP:GQ:PL	0/1:69,58:127:99:1262,0,1609	20	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	0.4286	41030.51	718	chr1	16563946	.	C	T	41030.51	.	AC=18;AF=0.429;AN=42;BaseQRankSum=0.258;DP=13151;ExcessHet=30.0624;FS=0.000;InbreedingCoeff=-0.7500;MLEAC=18;MLEAF=0.429;MQ=59.21;MQRankSum=-8.750e+00;QD=3.71;ReadPosRankSum=0.088;SOR=0.664	GT:AD:DP:GQ:PL	0/1:483,90:573:99:1329,0,13967	3	0	18	0
chr1	16563989	16563989	G	C	exonic	NBPF1	.	unknown	UNKNOWN,	.	.	391	314	816	1	0	818	0.565698	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3891	0.2879	0.4120	0.2492	0.4146	0.4143	0.3885	0.3951	0.0044437	687	154602	rs12117084	0	0.0002	0	0	.	0	0	.	.	0	0	0	.	0	0	0	0	0	0.0016	0.0027	0.0029	0	0.0030	0	0	.	.	0	.	0	0	.	0	0	0.0030	0	0	.	.	.	0.03	0.54159	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.353	0.39457	.	.	.	.	.	.	.	0.0024681687	0.00037	T	.	.	.	.	.	.	.	.	.	0.02352237282194909	0.02304	.	.	0.575379014015	0.49435	T	.	.	.	-0.455599	0.01046	T	-0.892213	0.00559	T	.	.	.	0.687031	0.29593	T	.	.	.	.	.	.	.	.	-3.451	0.15752	T	.	.	0.172	0.37820	B	.	.	0.069283	0.04780	1.396	0.1972110124842818	0.00678	0.00975	0.03723	N	AEFDBCIJ	0.029075	0.02679	N	.	.	.	.	.	.	7.36511087105358E-4	0.07723	0.383005	0.05895	0	0.332388	0.05802	1	0.457825	0.06646	0	0.467017	0.07116	0	.	.	0.566	0.566	0.16501	-0.694000	0.05217	-10.261000	0.00721	-1.511000	0.01016	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	497	0.76227	.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0.4286	47598.51	991	chr1	16563989	.	G	C	47598.51	.	AC=18;AF=0.429;AN=42;BaseQRankSum=-8.780e-01;DP=17388;ExcessHet=30.0624;FS=0.000;InbreedingCoeff=-0.7500;MLEAC=18;MLEAF=0.429;MQ=59.70;MQRankSum=-4.782e+00;QD=3.12;ReadPosRankSum=0.231;SOR=0.674	GT:AD:DP:GQ:PL	0/1:639,112:751:99:1240,0,17349	3	0	18	0
chr1	16564107	16564107	T	G	exonic	NBPF1	.	unknown	UNKNOWN,	.	.	383	318	815	6	0	827	0.565277	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4042	0.4090	0.4331	0.2091	0.4092	0.4156	0.4105	0.4299	0.0114492	298	26028	rs2990551	0	0.0008	0	0	.	0	0	.	.	0	0	0	.	0	0	0	0	0	0	0.0042	0	0	.	0	0	.	.	0	.	0	0	.	0	.	0	0	0	.	.	.	0.218	0.26066	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.168	0.17828	.	.	.	.	.	.	.	0.005626291	0.00125	T	.	.	.	.	.	.	.	.	.	0.015489301517433041	0.01504	.	.	0.533775627613	0.43567	T	.	.	.	-0.499041	0.00579	T	-0.954615	0.00248	T	.	.	.	0.465553	0.17787	T	.	.	.	.	.	.	.	.	-2.062	0.03424	T	.	.	0.177	0.38676	B	.;.	.;.	-0.174163	0.03224	0.539	0.25431419136250621	0.01172	0.01395	0.04735	N	AEFDBHCI	0.031569	0.03403	N	.	.	.	.	.	.	7.84172557205885E-4	0.07810	0.383005	0.05895	0	2.97E-4	0.00021	3	0.155693	0.03940	1	0.393	0.06807	0	.	.	0.566	-0.849	0.10181	-0.576000	0.05947	-14.342000	0.00409	-0.599000	0.04621	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	497	0.76227	.;Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0.4048	106526.9	1008	chr1	16564107	.	T	G	106526.9	.	AC=17;AF=0.405;AN=42;BaseQRankSum=-2.422e+00;DP=17757;ExcessHet=25.1139;FS=0.000;InbreedingCoeff=-0.6800;MLEAC=17;MLEAF=0.405;MQ=55.80;MQRankSum=6.43;QD=7.02;ReadPosRankSum=0.689;SOR=0.717	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:515,244:759:99:.:.:6530,0,19039	4	0	17	0
chr1	16564112	16564112	G	A	exonic	NBPF1	.	unknown	UNKNOWN,	.	.	382	776	360	4	0	368	0.191667	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0308	.	0.2106	0.0561	0.2861	0.0502	0.2065	0.2398	0.2097	0.2357	0.0002305	6	26028	rs200783506	0	0.0002	0	0	.	0	0	.	.	0	0	0	.	0	0	0	0	0	0	0.0008	0	0	.	0	0	.	.	0	.	0	0	.	0	.	0	0	0	.	.	.	0.031	0.54934	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	0.28264	.	.	.	.	.	.	.	0.0030666888	0.00051	T	.	.	.	.	.	.	.	.	.	0.05765086588271105	0.05706	.	.	0.524779081345	0.42300	T	.	.	.	-0.62494	0.00103	T	-0.595706	0.13176	T	.	.	.	0.79772	0.47570	T	.	.	.	.	.	.	.	.	-5.516	0.42017	T	.	.	0.264	0.49845	B	.;.	.;.	0.535560	0.09040	5.825	0.31427375372166372	0.01770	0.01195	0.04267	N	AEFDBHCI	0.026313	0.01952	N	.	.	.	.	.	.	5.56753264327555E-4	0.07304	0.383005	0.05895	0	2.97E-4	0.00021	3	0.155693	0.03940	1	0.393	0.06807	0	.	.	0.566	0.566	0.16501	-1.612000	0.02163	-12.383000	0.00529	-0.617000	0.04568	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	497	0.76227	.;Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.325	19191.79	994	chr1	16564112	.	G	A	19191.79	.	AC=13;AF=0.325;AN=40;BaseQRankSum=1.44;DP=16699;ExcessHet=11.8493;FS=0.000;InbreedingCoeff=-0.4737;MLEAC=13;MLEAF=0.325;MQ=55.13;MQRankSum=4.65;QD=1.72;ReadPosRankSum=0.230;SOR=0.710	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:626,105:731:99:.:.:1103,0,23452	7	0	13	1
chr1	16564144	16564144	C	T	exonic	NBPF1	.	unknown	UNKNOWN,	.	.	396	90	1031	5	0	1041	0.85258	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4583	0.3425	0.4588	0.4722	0.4820	0.4666	0.4640	0.4780	0.0474489	1235	26028	rs1043750	0.0010	0.0018	0.0014	0.0006	0.0011	0.0005	0.0004	0.0006	0.0004	0	0	0	.	0.0027	0	0.0011	0.0016	0	0	0.0038	0	0	.	0	0	.	.	.	.	0	.	.	0	.	0	.	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0.4762	99791.4	773	chr1	16564144	.	C	T	99791.4	.	AC=20;AF=0.476;AN=42;BaseQRankSum=-2.121e+00;DP=14037;ExcessHet=43.6797;FS=0.578;InbreedingCoeff=-0.9210;MLEAC=20;MLEAF=0.476;MQ=53.77;MQRankSum=-1.899e+01;QD=7.70;ReadPosRankSum=0.116;SOR=0.802	GT:AD:DP:GQ:PL	0/1:419,136:555:99:2824,0,14276	1	0	20	0
chr1	16564149	16564149	C	T	exonic	NBPF1	.	unknown	UNKNOWN,	.	.	397	86	1030	9	0	1048	0.859016	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4934	0.4863	0.4979	0.4883	0.4979	0.4937	0.49	0.4947	0.0530967	1382	26028	rs2992339	0.0004	0.0011	0.0002	0.0006	0.0006	0.0001	8.492e-05	0.0002	0.0001	0	0	0	.	0	0	0.0006	0	0	0	0.0048	0	0	.	0	0	.	.	.	.	0	.	.	.	.	0	.	0	.	.	.	0.027	0.57587	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.142	0.14196	.	.	.	.	.	.	.	0.0017973781	0.00024	T	.	.	.	.	.	.	.	.	.	0.0179163774864188	0.01745	.	.	0.506860494614	0.39783	T	.	.	.	-0.443409	0.01235	T	-0.874703	0.00699	T	.	.	.	0.69743	0.33655	T	.	.	.	.	.	.	.	.	-6.206	0.47972	T	.	.	0.161	0.35519	B	.;.	.;.	1.213019	0.16064	12.29	0.62062331923232983	0.06867	0.00721	0.03037	N	AEFBCI	0.018716	0.00589	N	.	.	.	.	.	.	7.30078675238498E-5	0.04552	0.109238	0.02860	1	0.063085	0.00849	2	0.155693	0.03940	1	0.195052	0.04227	1	.	.	0.566	-0.824	0.10266	0.108000	0.15232	-3.220000	0.02960	0.312000	0.19173	0.030000	0.20431	0.000000	0.08366	0.016000	0.10718	.	.	.	497	0.76227	.;Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4762	110456.43	755	chr1	16564149	.	C	T	110456.43	.	AC=20;AF=0.476;AN=42;BaseQRankSum=-9.900e-01;DP=13366;ExcessHet=43.6797;FS=0.000;InbreedingCoeff=-0.9091;MLEAC=20;MLEAF=0.476;MQ=53.66;MQRankSum=7.55;QD=8.81;ReadPosRankSum=-3.670e-01;SOR=0.678	GT:AD:DP:GQ:PL	0/1:321,210:531:99:5164,0,10282	1	0	20	0
chr1	16577387	16577387	T	C	exonic	NBPF1	.	unknown	UNKNOWN,	.	.	356	799	367	0	0	367	0.186768	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0434	.	0.2397	0.1662	0.2034	0.4259	0.2658	0.2330	0.2715	0.2199	0.0002523	39	154602	rs672812	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.293	0.20811	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.327	0.36779	.	.	.	.	.	.	.	0.0049095154	0.00105	T	.	.	.	.	.	.	.	.	.	0.02503941752049605	0.02454	.	.	0.530892848969	0.43161	T	.	.	.	-0.607731	0.00131	T	-1.11074	0.00022	T	.	.	.	0.820118	0.47860	T	.	.	.	.	.	.	.	.	-10.2	0.75100	D	.	.	0.175	0.38263	B	.;.	.;.	-0.632514	0.01485	0.092	0.32524367853212488	0.01889	0.00033	0.00296	N	AEFI	0.015988	0.00334	N	.	.	.	.	.	.	7.48439775225963E-5	0.04552	0.163922	0.03765	0	0.096583	0.02683	0	0.083675	0.02720	0	0.24341	0.04801	0	.	.	.	.	.	-0.192000	0.09585	-8.658000	0.00933	-0.551000	0.04898	0.005000	0.17040	0.000000	0.08366	0.005000	0.06747	.	.	.	444	0.79803	.;.	.	.	.	.	.	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	0.2381	6221.79	448	chr1	16577387	.	T	C	6221.79	.	AC=10;AF=0.238;AN=42;BaseQRankSum=1.96;DP=6360;ExcessHet=6.1002;FS=0.799;InbreedingCoeff=-0.3043;MLEAC=10;MLEAF=0.238;MQ=42.88;MQRankSum=-3.300e+00;QD=1.94;ReadPosRankSum=-6.470e-01;SOR=0.871	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:309,35:344:99:.:.:133,0,8687	11	0	10	0
chr1	16579293	16579293	A	G	exonic	NBPF1	.	unknown	UNKNOWN,	.	.	529	584	394	15	0	424	0.266332	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4770	0.4924	0.4777	0.4566	0.4691	0.4789	0.4718	0.4739	0.0008837	23	26028	rs4127114	2.64e-05	4.277e-05	2.622e-05	2.658e-05	0.0002	1.812e-05	1.531e-05	0.0001	7.808e-05	0.0002	0	4.461e-05	0.0002	0	0	1.524e-05	2.313e-05	0	0.0002	0.0007	0.0002	0.0002	0.0007	0.0001	0.0001	0.0002	0.0001	0.0003	0	7.295e-05	0	0.0002	0	0	0.0001	0	0.0007	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	6554.32	70	chr1	16579293	.	A	G	6554.32	.	AC=19;AF=0.500;AN=38;BaseQRankSum=1.87;DP=1441;ExcessHet=36.0830;FS=139.268;InbreedingCoeff=-0.9091;MLEAC=20;MLEAF=0.526;MQ=35.97;MQRankSum=0.877;QD=5.04;ReadPosRankSum=-7.480e-01;SOR=8.705	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:47,7:54:99:0|1:16579293_A_G:152,0,1938:16579293	0	0	19	2
chr1	16579294	16579294	T	C	exonic	NBPF1	.	unknown	UNKNOWN,	.	.	528	581	397	16	0	429	0.269642	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4727	0.4891	0.4739	0.4729	0.4642	0.4729	0.4624	0.4674	0.0008837	23	26028	rs4127115	2.497e-05	6.823e-05	2.58e-05	2.42e-05	0.0003	1.689e-05	1.419e-05	0.0001	0.0001	0.0002	0	8.871e-05	0.0003	0	0	8.967e-06	2.286e-05	0	0.0002	0.0010	0.0002	0.0002	0.0004	0.0001	0.0001	0.0001	0.0001	0.0003	0	0.0001	0	0.0004	0.0002	0	0.0001	0	0.0002	.	.	.	0.626	0.11263	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.023	0.00407	.	.	.	.	.	.	.	0.0016256273	0.00019	T	.	.	.	.	.	.	.	.	.	0.015250635719149447	0.01481	.	.	0.530770659447	0.43143	T	.	.	.	-0.622413	0.00106	T	-1.13183	0.00013	T	.	.	.	0.49745	0.15470	T	.	.	.	.	.	.	.	.	-6.053	0.46720	T	.	.	0.064	0.01738	B	.;.	.;.	-0.476506	0.01943	0.166	0.24072861881687246	0.01047	0.00011	0.00159	N	AEFI	0.015935	0.00328	N	.	.	.	.	.	.	6.49849957978273E-4	0.07527	0.163922	0.03765	0	0.096583	0.02683	0	0.083675	0.02720	0	0.24341	0.04801	0	.	.	.	.	.	-0.898000	0.04213	-20.000000	0.00162	-1.466000	0.01076	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	445	0.79730	.;.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0.5	6554.32	70	chr1	16579294	.	T	C	6554.32	.	AC=19;AF=0.500;AN=38;BaseQRankSum=-5.460e+00;DP=1432;ExcessHet=36.0830;FS=139.268;InbreedingCoeff=-0.9091;MLEAC=20;MLEAF=0.526;MQ=35.97;MQRankSum=0.877;QD=5.04;ReadPosRankSum=-9.680e-01;SOR=8.705	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:47,7:54:99:0|1:16579293_A_G:152,0,1938:16579293	0	0	19	2
chr1	16579305	16579305	G	A	exonic	NBPF1	.	unknown	UNKNOWN,	.	.	547	597	363	15	0	393	0.247637	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4396	0.4635	0.4334	0.4429	0.4244	0.4403	0.4359	0.4340	0.0011142	29	26028	rs10907245	0.0016	0.0023	0.0015	0.0017	0.0061	0.0015	0.0015	0.0053	0.0050	0.0061	0.0009	0.0028	0.0005	0.0002	0.0027	0.0016	0.0013	0.0019	0.0040	0.0094	0.0041	0.0039	0.0113	0.0037	0.0036	0.0105	0.0101	0.0113	0	0.0013	0.0026	0.0004	9.697e-05	0	0.0016	0.0049	0.0015	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0.4286	3659.58	71	chr1	16579305	.	G	A	3659.58	.	AC=18;AF=0.429;AN=42;BaseQRankSum=3.29;DP=1401;ExcessHet=30.0624;FS=127.752;InbreedingCoeff=-0.7505;MLEAC=18;MLEAF=0.429;MQ=35.79;MQRankSum=0.355;QD=3.02;ReadPosRankSum=-7.570e-01;SOR=8.098	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:45,5:50:56:0|1:16579305_G_A:56,0,1870:16579305	3	0	18	0
chr1	16579308	16579308	G	C	exonic	NBPF1	.	unknown	UNKNOWN,	.	.	536	678	298	10	0	318	0.189964	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4169	0.4635	0.4098	0.4442	0.3977	0.4141	0.4226	0.4033	0.0009605	25	26028	rs10796417	2.988e-06	0.0001	2.05e-06	3.875e-06	1.313e-05	8e-07	2.2e-07	.	.	0	0	4.366e-05	0	0	0	1.416e-06	0	1.313e-05	4.685e-05	0.0005	7.844e-05	1.371e-05	7.453e-05	2.144e-05	1.549e-05	2.876e-05	1.88e-05	0	0	6.652e-05	0.0003	0	0	0	7.453e-05	0	0	.	.	.	0.114	0.36765	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.085	0.06190	.	.	.	.	.	.	.	0.0018868446	0.00026	T	.	.	.	.	.	.	.	.	.	0.03536828552245914	0.03483	.	.	0.579951882362	0.50079	T	.	.	.	-0.382433	0.03007	T	-0.787115	0.02245	T	.	.	.	0.920308	0.71149	D	.	.	.	.	.	.	.	.	-9.586	0.71394	D	.	.	0.175	0.38372	B	.;.	.;.	1.521589	0.19533	14.31	0.3543343570932736	0.02223	0.00520	0.02423	N	AEFI	0.030698	0.03141	N	.	.	.	.	.	.	6.38433801032419E-4	0.07505	0.183328	0.03972	0	0.096583	0.02683	0	0.083675	0.02720	0	0.185264	0.04187	1	.	.	.	.	.	0.649000	0.24529	-0.171000	0.11226	0.423000	0.20817	0.003000	0.16062	0.000000	0.08366	0.001000	0.02609	.	.	.	445	0.79730	.;.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0.3095	1830.34	67	chr1	16579308	.	G	C	1830.34	.	AC=13;AF=0.310;AN=42;BaseQRankSum=0.233;DP=1379;ExcessHet=11.8493;FS=101.562;InbreedingCoeff=-0.4491;MLEAC=13;MLEAF=0.310;MQ=35.77;MQRankSum=0.401;QD=2.26;ReadPosRankSum=-6.640e-01;SOR=8.189	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:45,5:50:56:0|1:16579305_G_A:56,0,1870:16579305	8	0	13	0
chr1	16759590	16759590	-	C	exonic	MST1L	.	frameshift insertion	MST1L:NM_001271733:exon7:c.811dupG:p.A271Gfs*26,	.	.	687	520	144	171	0	486	0.31848	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0010	0.0027	0.0007	0.0003	0	0.0010	0	0.0007	0.0097587	254	26028	rs200532237	0.0004	0.0070	0.0004	0.0004	0.0030	0.0003	0.0003	0.0023	0.0021	0.0030	0.0007	0.0005	0.0006	9.298e-05	0.0004	0.0002	0.0007	0.0008	0.0020	0.0100	0.0019	0.0021	0.0059	0.0016	0.0015	0.0045	0.0039	0.0059	0.0022	0.0010	0.0037	0.0009	0.0016	0	0.0008	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.619	13930.12	129	chr1	16759590	.	G	GC	13930.12	.	AC=26;AF=0.619;AN=42;BaseQRankSum=5.56;DP=1816;ExcessHet=4.5793;FS=24.066;InbreedingCoeff=-0.2117;MLEAC=26;MLEAF=0.619;MQ=45.00;MQRankSum=-3.164e+00;QD=9.41;ReadPosRankSum=-3.895e+00;SOR=1.240	GT:AD:DP:GQ:PL	1/1:0,22:22:66:765,66,0	2	7	12	0
chr1	20323486	20323486	T	C	exonic	VWA5B1	.	nonsynonymous SNV	VWA5B1:NM_001039500:exon8:c.T1097C:p.I366T	.	.	426	1058	38	0	0	38	0.0176416	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.998	D	0.983	D	0.136	N	0.978	D	3.02	M	2.27	T	-0.768	T	0.151	T	0.803	4.192	21.7	5.44	2.059	7.292	14.306	0.279	.	0.0007	0.00299521	0.0070	0	0.0054	0	0	0.0015	0.0045	0.0195	0.0011319	175	154602	rs201370343	0.0013	0.0013	0.0009	0.0018	0.0155	0.0013	0.0013	0.0147	0.0144	0.0002	0.0006	0.0018	2.981e-05	2.044e-05	0.0092	0.0004	0.0019	0.0155	0.0009	0.0009	0.0004	0.0013	0.0162	0.0008	0.0007	0.0133	0.0122	4.813e-05	0	0.0012	0.0020	0	9.413e-05	0.0102	0.0004	0	0.0162	0.004	0.65419	D	0.003	0.76473	D	0.998	0.73220	D	0.983	0.75793	D	0.136158	0.18456	N	0.577246	0.977751	0.39397	D	3.495	0.92709	M	2.27	0.17431	T	-3.65	0.69950	D	0.831	0.83371	-0.7681	0.56962	T	0.151	0.47909	T	10	0.017407864	0.00371	T	.	.	.	0.279	0.59619	.	.	0.194818534648	0.19098	0.6890989978460175	0.68849	.	.	0.417895138264	0.27547	T	0.207884	0.56765	T	-0.243124	0.14954	T	-0.109033	0.62689	T	0.119954450924033	0.14425	T	0.884312	0.60710	D	0.43381843	0.63001	0.47718886	0.69710	0.43381843	0.63002	0.47718886	0.69711	-10.769	0.78471	D	.	.	0.221	0.48664	B	.;.	.;.	4.562828	0.71921	25.7	0.99806278955853256	0.89085	0.96560	0.69751	D	AEFDBHCIJ	0.834283	0.75235	D	0.596985983387991	0.72985	5.892872	0.541148797261749	0.70784	5.556301	0.999999999999452	0.74766	0.608966	0.35542	0	0.681609	0.65952	0	0.658983	0.55881	0	0.542086	0.14980	0	.	.	5.44	5.44	0.79348	7.273000	0.77921	7.906000	0.73790	0.665000	0.62972	0.972000	0.34453	0.994000	0.32194	0.983000	0.59808	0.0:0.0:0.0:1.0	14.306	0.65941	917	0.20147	von Willebrand factor, type A|von Willebrand factor, type A|von Willebrand factor, type A;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	3395.11	35	chr1	20323486	.	T	C	3395.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.263;DP=1069;ExcessHet=0.1072;FS=2.092;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=12.35;ReadPosRankSum=0.150;SOR=0.839	GT:AD:DP:GQ:PL	0/1:64,71:135:99:1820,0,1565	19	0	2	0
chr1	23193100	23193100	G	A	exonic	HTR1D	.	nonsynonymous SNV	HTR1D:NM_000864:exon2:c.C1120T:p.R374W,	.	.	426	1084	12	0	0	12	0.00550459	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.014	B	0.006	B	0.001	N	0.943	D	2.18	M	1.09	T	-0.933	T	0.112	T	0.417	1.723	11.72	2.32	0.644	1.556	9.711	0.114	0.0163420615802	0.0006	0.00139776	0.0014	0	0.0008	0	0	0.0007	0.0012	0.0077	0.0011966	185	154602	rs147605856	0.0008	0.0008	0.0006	0.0010	0.0062	0.0008	0.0008	0.0057	0.0056	0.0002	0.0006	0.0009	0	1.877e-05	0.0031	0.0005	0.0011	0.0062	0.0006	0.0006	0.0005	0.0008	0.0069	0.0005	0.0005	0.0050	0.0044	0.0001	0	0.0003	0.0014	0	0	0.0068	0.0007	0.0010	0.0069	0.014	0.53172	D	0.002	0.79402	D	0.014	0.16867	B	0.006	0.12133	B	0.001113	0.40219	N	0.238170	0.942652	0.37380	D	2.31	0.66127	M	1.09	0.39223	T	-3.79	0.71639	D	0.101	0.08366	-0.9335	0.43620	T	0.112	0.40191	T	10	0.006167829	0.00139	T	0.016342	0.37549	T	0.114	0.32008	.	.	0.351146185902	0.34720	0.3426071840236831	0.34173	0.126176372359	0.14220	0.245332121849	0.03292	T	0.608422	0.87554	D	-0.416178	0.01810	T	-0.367419	0.37190	T	0.0283388284574043	0.01738	T	0.612939	0.23352	T	0.1539406	0.34869	0.1303071	0.31314	0.1539406	0.34869	0.1303071	0.31313	-5.503	0.41896	T	.	.	0.123	0.25721	B	.	.	3.182385	0.43203	21.7	0.99274471503739503	0.57661	0.83710	0.42810	D	AEFBI	0.549010	0.56206	D	-0.15522878798047	0.35013	2.00576	-0.0651421133318892	0.36841	2.14929	0.994533957366013	0.33682	0.615465	0.37627	0	0.547309	0.14657	0	0.658983	0.55881	0	0.655142	0.61905	0	.	.	5.34	2.32	0.27895	1.606000	0.36437	3.573000	0.39130	0.672000	0.70159	0.959000	0.33545	1.000000	0.68203	0.455000	0.28006	0.0:0.1301:0.4673:0.4027	9.711	0.39411	735	0.53711	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1089.98	42	chr1	23193100	.	G	A	1089.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.60;DP=835;ExcessHet=0.0000;FS=0.912;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.73;ReadPosRankSum=0.228;SOR=0.525	GT:AD:DP:GQ:PL	0/1:34,40:74:99:1104,0,724	20	0	1	0
chr1	25321930	25321930	G	A	exonic	RHD	.	nonsynonymous SNV	RHD:NM_001282867:exon9:c.G697A:p.A233T	.	.	567	944	6	5	0	16	0.00840336	.	.	2812483	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.53	T	0.195	B	0.065	B	.	.	1.000	N	1.155	L	2.24	T	-0.963	T	0.018	T	0.094	0.400	6.172	-2.49	-0.784	-0.815	6.514	0.012	0.00167194843163	0.0055	0.00139776	0.0042	0.0005	0.0035	0	0	0.0069	0	0.0013	0.0035834	554	154602	rs150059028	0.0056	0.0059	0.0057	0.0054	0.0160	0.0054	0.0054	0.0133	0.0122	0.0009	0.0045	0.0008	0	0.0003	0.0160	0.0068	0.0042	0.0009	0.0042	0.0043	0.0045	0.0040	0.0079	0.0040	0.0038	0.0073	0.0071	0.0007	0.0120	0.0043	0.0010	0	0.0001	0.0363	0.0079	0.0038	0.0011	0.381	0.11156	T	0.606	0.07791	T	0.195	0.29512	B	0.065	0.27321	B	.	.	.	.	1	0.08975	N	1.74	0.45129	L	2.24	0.17923	T	-0.49	0.15578	N	0.137	0.13484	-0.9627	0.38664	T	0.018	0.07565	T	9	0.009203434	0.00208	T	0.001672	0.02753	T	0.012	0.01476	.	.	0.0401082797425	0.02173	.	.	0.13233277982	0.14917	0.298501372337	0.10178	T	0.001847	0.01261	T	-0.682146	0.00047	T	-0.747786	0.03573	T	0.00249023138695016	0.00026	T	0.710029	0.32075	T	0.026662363	0.01752	0.056285452	0.10028	0.024732655	0.01335	0.06271814	0.12315	-4.096	0.25231	T	0.2217239663728352	0.29907	0.083	0.09433	B	.	.	-0.394838	0.02232	0.226	0.55583074485088868	0.05372	0.00769	0.03173	N	AEFGBI	0.062290	0.11963	N	-1.24185593871827	0.04408	0.198871	-1.37664646512064	0.03502	0.1635011	5.54625796185507E-4	0.07304	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	2.52	-2.49	0.06034	-0.634000	0.05575	-0.250000	0.10515	0.318000	0.19305	0.000000	0.06391	0.000000	0.08366	0.037000	0.13953	0.5587:0.0:0.4413:0.0	6.514	0.21436	894	0.26265	.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.025	1686.33	35	chr1	25321930	.	G	A	1686.33	.	AC=1;AF=0.025;AN=40;BaseQRankSum=-7.140e-01;DP=899;ExcessHet=0.0000;FS=0.533;InbreedingCoeff=-0.0256;MLEAC=1;MLEAF=0.025;MQ=58.75;MQRankSum=-3.033e+00;QD=8.65;ReadPosRankSum=0.532;SOR=0.761	GT:AD:DP:GQ:PL	0/1:114,81:195:99:1700,0,2734	19	0	1	1
chr1	25976754	25976754	C	T	exonic	PAFAH2	.	nonsynonymous SNV	PAFAH2:NM_000437:exon8:c.G686A:p.R229H,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.11	T	0.958	D	0.595	P	0.009	N	1.000	N	2.2	M	0.47	T	-0.841	T	0.201	T	0.248	3.741	19.00	4.29	1.321	1.043	9.864	0.178	0.0229558841035	.	0.000599042	5.796e-05	0.0002	8.69e-05	0.0001	0	1.505e-05	0	0.0001	7.12e-05	11	154602	rs200838566	4.378e-05	4.515e-05	3.812e-05	4.951e-05	0.0002	3.509e-05	3.193e-05	0.0001	0.0001	2.987e-05	2.236e-05	0	7.558e-05	0	0	3.507e-05	4.967e-05	0.0002	1.969e-05	1.968e-05	1.284e-05	2.685e-05	0.0002	5.24e-06	2.45e-06	7.97e-06	2.98e-06	4.81e-05	0	0	0	0	0	0	0	0	0.0002	0.005	0.63226	D	0.011	0.64786	D	0.958	0.54977	D	0.595	0.50587	P	0.008893	0.30616	N	0.222920	0.999999	0.08975	N	2.075	0.57047	M	0.47	0.56114	T	-3.29	0.65742	D	0.405	0.44570	-0.8411	0.52573	T	0.201	0.55751	T	10	0.2634232	0.43820	T	0.022956	0.45892	T	0.178	0.44724	.	.	0.701399395786	0.69881	0.37676601467336773	0.37590	0.0881398853638	0.09959	0.286296069622	0.08385	T	0.419248	0.77133	T	-0.303389	0.08344	T	-0.399274	0.33470	T	0.204358623233872	0.20654	T	0.883212	0.60517	D	0.20454228	0.42567	0.18371545	0.41379	0.20454228	0.42566	0.18371545	0.41378	-6.299	0.48714	T	.	.	0.073	0.04558	B	.;.	.;.	4.169778	0.62683	24.5	0.99883683164832082	0.95892	0.16398	0.19370	N	AEFDBI	0.055116	0.10079	N	0.107455263393041	0.46810	2.91577	0.0411119328923455	0.41643	2.505402	0.881259605507874	0.25628	0.706548	0.73137	0	0.653731	0.59785	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	5.2	4.29	0.50359	0.897000	0.28022	2.234000	0.31556	0.549000	0.26987	0.023000	0.19925	0.979000	0.30280	0.994000	0.71098	0.0:0.8323:0.0:0.1677	9.864	0.40302	690	0.58899	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1199.98	36	chr1	25976754	.	C	T	1199.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.82;DP=792;ExcessHet=0.0000;FS=1.664;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.50;ReadPosRankSum=0.099;SOR=0.902	GT:AD:DP:GQ:PL	0/1:50,46:96:99:1214,0,1107	20	0	1	0
chr1	26282323	26282323	A	0	exonic	UBXN11	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7143	33415.17	33	chr1	26282323	.	A	G,*	33415.17	.	AC=30,8;AF=0.714,0.190;AN=42;BaseQRankSum=0.532;DP=976;ExcessHet=0.6776;FS=0.923;InbreedingCoeff=-0.1053;MLEAC=30,8;MLEAF=0.714,0.190;MQ=60.00;MQRankSum=0.00;QD=31.59;ReadPosRankSum=-6.110e-01;SOR=0.855	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:16,17,0:33:99:0|1:26282291_C_T:666,0,621,714,672,1386:26282291	0	9	4	0
chr1	26282334	26282341	TGGGGCCG	0	exonic	UBXN11	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3095	9122.57	35	chr1	26282334	.	TGGGGCCG	*,T	9122.57	.	AC=3,13;AF=0.071,0.310;AN=42;BaseQRankSum=0.857;DP=1017;ExcessHet=1.5101;FS=6.482;InbreedingCoeff=-0.0096;MLEAC=3,13;MLEAF=0.071,0.310;MQ=60.00;MQRankSum=0.00;QD=14.23;ReadPosRankSum=-6.330e-01;SOR=1.134	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:25,0,19:44:99:0|1:26282291_C_T:640,716,1765,0,1050,993:26282291	8	0	0	0
chr1	26282344	26282361	ACCGGGACCGGGACTGGG	0	exonic	UBXN11	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3095	9155.21	37	chr1	26282344	.	ACCGGGACCGGGACTGGG	*,A	9155.21	.	AC=3,13;AF=0.071,0.310;AN=42;BaseQRankSum=1.27;DP=1066;ExcessHet=1.5101;FS=6.447;InbreedingCoeff=-0.0096;MLEAC=3,13;MLEAF=0.071,0.310;MQ=60.00;MQRankSum=0.00;QD=13.46;ReadPosRankSum=-2.630e-01;SOR=1.188	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:27,0,19:46:99:0|1:26282291_C_T:634,716,1832,0,1116,1059:26282291	8	0	0	0
chr1	26282357	26282367	CTGGGGCCGGG	0	exonic	UBXN11	.	.	.	.	.	386	373	210	27	526	790	0.261386	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5476	11163.93	50	chr1	26282357	.	CTGGGGCCGGG	C,*	11163.93	.	AC=10,16;AF=0.238,0.381;AN=42;BaseQRankSum=0.187;DP=1169;ExcessHet=10.5502;FS=6.433;InbreedingCoeff=-0.4135;MLEAC=10,16;MLEAF=0.238,0.381;MQ=60.00;MQRankSum=0.00;QD=11.09;ReadPosRankSum=0.857;SOR=1.118	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:27,0,19:46:99:0|1:26282291_C_T:634,716,1832,0,1116,1059:26282291	1	0	7	0
chr1	26853755	26853755	C	T	exonic	ZDHHC18	.	nonsynonymous SNV	ZDHHC18:NM_032283:exon8:c.C1079T:p.S360F,	.	.	426	1092	4	0	0	4	0.00182815	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	D	0.906	P	0.365	B	0.635	N	0.900	N	0.55	N	0.88	T	-0.818	T	0.122	T	0.303	3.409	17.52	4.8	2.473	6.357	18.029	0.151	0.0122435203181	7.7e-05	.	0.0001	0	0.0003	0	0	6.008e-05	0.0022	0.0004	0.00011	17	154602	rs151336811	0.0001	0.0001	8.032e-05	0.0001	0.0007	9.67e-05	9.149e-05	0.0005	0.0004	0	0.0006	0	0	0	0.0007	7.464e-05	0.0003	0.0003	0.0003	0.0003	0.0002	0.0005	0.0026	0.0003	0.0002	0.0019	0.0017	0	0	0.0026	0	0	0	0.0102	0.0001	0	0.0002	0.027	0.46513	D	0.04	0.52727	D	0.906	0.49993	P	0.365	0.43339	B	0.634969	0.05835	N	1.186530	0.899808	0.27723	N	1.24	0.30952	L	0.88	0.53088	T	-2.15	0.52938	N	0.113	0.22098	-0.8176	0.54084	T	0.122	0.42272	T	10	0.043574423	0.03221	T	0.012244	0.30635	T	0.151	0.39764	.	.	0.48763082235	0.48394	0.6532330271380543	0.65259	0.880658612019	0.69758	0.536027550697	0.43885	T	0.138019	0.47128	T	-0.365882	0.03808	T	-0.377602	0.36003	T	0.0613208124680371	0.07375	T	0.945705	0.79334	D	0.11510625	0.27166	0.14992525	0.35380	0.11510625	0.27166	0.14992525	0.35379	-10.871	0.78945	D	.	.	0.213	0.44214	B	.;.	.;.	3.972013	0.58326	24.0	0.99549880629490006	0.71086	0.94803	0.62383	D	AEFGBI	0.674021	0.63988	D	0.184795699815732	0.50469	3.236601	0.218524993354046	0.50876	3.275115	0.999999999999697	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.644132	0.48003	0	0.714379	0.83352	0	.	.	4.8	4.8	0.61157	6.395000	0.73157	7.628000	0.62604	0.599000	0.40250	0.724000	0.28861	0.999000	0.35428	0.992000	0.67800	0.0:1.0:0.0:0.0	18.029	0.89201	505	0.75648	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2578.98	33	chr1	26853755	.	C	T	2578.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.289;DP=921;ExcessHet=0.0000;FS=1.017;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.36;ReadPosRankSum=0.229;SOR=0.767	GT:AD:DP:GQ:PL	0/1:121,106:227:99:2593,0,3075	20	0	1	0
chr1	37613865	37613865	G	A	exonic	RSPO1	.	nonsynonymous SNV	RSPO1:NM_001242908:exon6:c.C464T:p.P155L	Palmoplantar hyperkeratosis and true hermaphroditism, Autosomal recessive;Palmoplantar hyperkeratosis with squamous cell carcinoma of skin and sex reversal, Autosomal recessive	.	0	1516	6	0	0	6	0.00197498	.	.	2015964	not_provided	MedGen:CN517202	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.19	T	0.001	B	0.003	B	0.127	N	1.000	N	1.545	L	0.47	T	-0.998	T	0.123	T	0.095	1.372	10.52	1.41	-0.017	1.575	9.279	0.038	0.0281338452972	0.0004	0.000199681	0.0003	0.0001	0.0003	0	0	0.0005	0.0011	0.0003	0.0002846	44	154602	rs201102260	0.0003	0.0003	0.0002	0.0003	0.0078	0.0002	0.0002	0.0060	0.0054	0.0005	0.0002	3.826e-05	0	3.749e-05	0.0078	0.0002	0.0008	0.0003	0.0002	0.0002	0.0002	0.0002	0.0004	0.0002	0.0001	0.0002	0.0002	0.0002	0	0.0001	0	0	0	0.0034	0.0004	0.0005	0	0.183	0.21718	T	0.192	0.30631	T	0.001	0.07471	B	0.001	0.08700	B	0.127430	0.18768	N	0.583334	0.999975	0.18878	N	1.9	0.50570	L	0.47	0.56114	T	-2.47	0.53898	N	0.237	0.31702	-0.9976	0.30590	T	0.123	0.42483	T	10	0.086111635	0.14604	T	0.028134	0.50858	D	0.038	0.09825	.	.	0.440810947182	0.43702	0.2727745574519708	0.27190	0.28240478437	0.30698	0.337459117174	0.16057	T	0.443178	0.78706	T	-0.452503	0.01092	T	-0.561825	0.16206	T	0.0185511495419782	0.00570	T	0.848015	0.52922	T	0.041597407	0.06155	0.066615336	0.13670	0.041597407	0.06155	0.066615336	0.13670	-5.971	0.46571	T	.	.	0.069	0.02993	B	.;.;.	.;.;.	1.643079	0.20970	14.99	0.89132379006714624	0.18538	0.40521	0.26455	N	AEFBI	0.127633	0.24507	N	-0.717627050715592	0.15527	0.7832446	-0.670855618511111	0.17692	0.9418194	2.47405278296919E-5	0.03498	0.516011	0.20929	0	0.59043	0.45803	0	0.577349	0.28860	0	0.530356	0.10902	0	.	.	5.75	1.41	0.21461	1.657000	0.36981	1.042000	0.23565	-0.169000	0.11342	0.949000	0.33028	0.262000	0.23990	0.805000	0.37950	0.1474:0.0:0.7308:0.1219	9.279	0.36879	906	0.23090	.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	765.98	34	chr1	37613865	.	G	A	765.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.325;DP=763;ExcessHet=0.0000;FS=1.091;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.73;ReadPosRankSum=1.62;SOR=0.904	GT:AD:DP:GQ:PL	0/1:19,33:52:99:780,0,349	20	0	1	0
chr1	39511904	39511905	GG	-	exonic;splicing	BMP8A;BMP8A	.	frameshift deletion	BMP8A:NM_181809:exon3:c.673delG:p.H226Tfs*40,	.	.	546	26	383	566	1	1516	0.966816	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1284964917	3.274e-06	4.184e-06	2.207e-06	4.319e-06	3.209e-05	8.7e-07	2.4e-07	5.1e-07	1.9e-07	0	3.209e-05	0	0	0	0	3.046e-06	0	0	9.616e-06	1.344e-05	0	2.033e-05	0.0001	0	0	.	.	0	0	0.0001	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7857	7775.32	8	chr1	39511903	.	CGG	TGG,C	7775.32	.	AC=32,1;AF=0.762,0.024;AN=42;BaseQRankSum=2.52;DP=302;ExcessHet=4.7172;FS=0.000;InbreedingCoeff=-0.2724;MLEAC=32,1;MLEAF=0.762,0.024;MQ=26.98;MQRankSum=0.00;QD=26.63;ReadPosRankSum=0.072;SOR=3.721	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,26,0:26:78:.:.:826,78,0,826,78,826	0	12	8	0
chr1	44704096	44704096	T	C	exonic	ARMH1	.	nonsynonymous SNV	ARMH1:NM_001145636:exon6:c.T647C:p.I216T,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.302	B	0.085	B	0.156	N	1.000	N	0.695	N	0.85	T	-0.970	T	0.095	T	0.363	3.887	19.76	5.24	1.995	5.972	14.169	0.100	0.0148597894399	0.0007	.	0.0005	0.0005	0	0	0	0.0012	0	0	9.7e-05	15	154602	rs372170670	0.0002	0.0002	0.0002	0.0002	0.0004	0.0002	0.0001	6.165e-05	4.501e-05	6.334e-05	8.405e-05	0.0054	0	0	0.0004	6.12e-05	0.0006	1.262e-05	0.0002	0.0002	0.0003	0.0001	0.0001	0.0002	0.0001	7.923e-05	6.004e-05	4.856e-05	0	0	0.0061	0	0	0	0.0001	0	0	0.015	0.61437	D	0.018	0.66756	D	0.302	0.32608	B	0.085	0.29395	B	0.156354	0.17802	N	0.602490	0.999932	0.19363	N	.	.	.	0.85	0.47130	T	-1.68	0.40082	N	0.175	0.18784	-0.9703	0.37136	T	0.095	0.35924	T	10	0.009207785	0.00208	T	0.01486	0.35248	T	0.100	0.28662	.	.	0.110078149338	0.10416	0.19456755825760388	0.19374	.	.	.	.	.	0.043217	0.26430	T	-0.274224	0.11291	T	-0.395011	0.33966	T	0.049828688566822	0.05471	T	0.732227	0.34774	T	0.13492648	0.31332	0.13655627	0.32664	0.13492648	0.31331	0.13655627	0.32663	-7.129	0.54970	T	.	.	0.120	0.24901	B	.;.;.	.;.;.	2.861504	0.37813	20.6	0.98826753471081563	0.46886	0.97266	0.73678	D	AEFBI	0.631944	0.61274	D	-0.153631679218391	0.35080	2.010456	-0.057324448522878	0.37174	2.173098	0.999902894585159	0.45458	0.554377	0.28877	0	0.588066	0.40923	0	0.602189	0.34648	0	0.542086	0.14980	0	.	.	5.24	5.24	0.72863	6.269000	0.72536	4.130000	0.42025	0.660000	0.55035	0.940000	0.32642	0.778000	0.26755	0.004000	0.06068	0.0:0.0:0.0:1.0	14.169	0.65037	0	0.99858	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1390.98	43	chr1	44704096	.	T	C	1390.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.340e+00;DP=884;ExcessHet=0.0000;FS=0.760;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.77;ReadPosRankSum=0.622;SOR=0.638	GT:AD:DP:GQ:PL	0/1:40,61:101:99:1405,0,897	20	0	1	0
chr1	50419106	50419106	G	0	exonic	DMRTA2	.	.	.	.	.	453	9	255	719	86	1779	0.98948	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.8095	13423.2	21	chr1	50419106	.	G	*,A	13423.2	.	AC=12,30;AF=0.286,0.714;AN=42;BaseQRankSum=-4.990e-01;DP=670;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=NaN;MLEAC=12,30;MLEAF=0.286,0.714;MQ=59.92;MQRankSum=0.00;QD=23.55;ReadPosRankSum=-7.700e-01;SOR=0.979	GT:AD:DP:GQ:PGT:PID:PL:PS	2/2:1,0,26:27:49:.:.:757,760,790,49,78,0	0	2	0	0
chr1	77632566	77632566	G	T	exonic	ZZZ3	.	nonsynonymous SNV	ZZZ3:NM_001376151:exon3:c.C789A:p.D263E	.	.	.	.	.	.	.	.	.	.	.	2438123	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	.	.	0.116	B	0.084	B	0.000	D	1.000	D	1.845	L	.	.	-0.937	T	0.127	T	0.291	1.992	12.62	4.49	1.419	3.431	14.405	0.058	0.00670846347803	7.7e-05	0.000199681	2.472e-05	0	0	0	0	4.496e-05	0	0	3.88e-05	6	154602	rs368611525	6.567e-05	6.567e-05	7.351e-05	5.775e-05	8.944e-05	5.495e-05	5.107e-05	6.521e-05	6.081e-05	0	8.944e-05	0	0	0	0	7.914e-05	6.623e-05	0	4.597e-05	4.593e-05	5.14e-05	4.029e-05	7.35e-05	2.108e-05	1.526e-05	2.846e-05	1.858e-05	2.407e-05	0	6.537e-05	0	0	0	0	7.35e-05	0	0	0.003	0.68238	D	0.338	0.18125	T	.	.	.	.	.	.	0.000188	0.48115	D	0.212673	0.999859	0.81001	D	.	.	.	.	.	.	-0.81	0.22294	N	0.202	0.22357	-0.9367	0.43134	T	0.127	0.43360	T	8	0.04912427	0.04458	T	0.006708	0.17727	T	0.058	0.16647	0.35	0.34760	0.0675242888579	0.06100	.	.	0.201892751584	0.22604	0.409118115902	0.26334	T	.	.	.	-0.213649	0.18869	T	-0.318967	0.42687	T	0.0864090498047595	0.10786	T	0.763624	0.39028	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.122	0.25396	B	.	.	2.600232	0.33751	19.43	0.98706435392408121	0.44982	0.96110	0.67578	D	AEFBI	0.371842	0.45770	N	-0.188588438190384	0.33607	1.908673	-0.037221725365323	0.38049	2.236177	0.626143609063516	0.21928	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.4	4.49	0.54177	3.578000	0.53638	6.607000	0.56075	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.981000	0.58702	0.0714:0.0:0.9286:0.0	14.405	0.66648	647	0.63344	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2947.98	37	chr1	77632566	.	G	T	2947.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-9.750e-01;DP=905;ExcessHet=0.0000;FS=12.063;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.81;ReadPosRankSum=0.653;SOR=0.291	GT:AD:DP:GQ:PL	0/1:87,112:199:99:2962,0,2395	20	0	1	0
chr1	78492766	78492766	A	T	exonic	PTGFR	.	nonsynonymous SNV	PTGFR:NM_000959:exon2:c.A23T:p.Q8L	.	.	432	1070	20	0	0	20	0.00925926	.	.	719090	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.18	T	0.001	B	0.003	B	0.018	N	0.622	N	0.755	N	-0.99	T	-0.711	T	0.300	T	0.31	1.778	11.91	4.35	2.243	2.338	6.821	0.181	.	0.0041	0.00738818	0.0059	0.0006	0.0031	0.0013	0.0009	0.0046	0.0102	0.0224	0.0056079	867	154602	rs41292960	0.0051	0.0051	0.0046	0.0056	0.0191	0.0050	0.0050	0.0183	0.0180	0.0005	0.0042	0.0023	0.0025	0.0010	0.0158	0.0044	0.0057	0.0191	0.0041	0.0041	0.0038	0.0043	0.0205	0.0038	0.0037	0.0172	0.0160	0.0008	0	0.0067	0.0023	0.0017	0.0013	0.0170	0.0048	0.0090	0.0205	0.05	0.39575	D	0.164	0.45961	T	0.0	0.07471	B	0.0	0.08700	B	0.018422	0.27485	N	0.385314	0.622299	0.30769	N	1.1	0.28011	L	-2.53	0.89430	D	-1.34	0.33998	N	0.122	0.21969	-0.7105	0.59928	T	0.300	0.67166	T	10	0.003374815	0.00059	T	.	.	.	0.181	0.45247	.	.	0.419120893867	0.41530	0.47915917809288416	0.47835	0.209392805901	0.23407	0.331329494715	0.15136	T	0.170723	0.51857	T	-0.309677	0.07777	T	-0.20267	0.54392	T	0.0158607068693178	0.00372	T	0.659534	0.26859	T	0.096999705	0.22858	0.11808839	0.28506	0.096999705	0.22857	0.11808839	0.28505	-2.188	0.04441	T	.	.	0.080	0.07697	B	.;.;.	.;.;.	2.602499	0.33784	19.44	0.98998694768417228	0.50106	0.75837	0.37153	D	AEFBIJ	0.174670	0.30181	N	-0.189002705709389	0.33591	1.907492	-0.00394887460488699	0.39536	2.345695	0.999976573831492	0.50053	0.549168	0.22868	0	0.563428	0.19063	0	0.563428	0.18855	0	0.616125	0.45549	0	.	.	5.55	4.35	0.51454	3.044000	0.49520	6.687000	0.56329	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.835000	0.39381	0.6324:0.2477:0.0:0.1199	6.821	0.23038	280	0.88949	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1496.98	40	chr1	78492766	.	A	T	1496.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.74;DP=816;ExcessHet=0.0000;FS=4.795;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.79;ReadPosRankSum=0.366;SOR=1.206	GT:AD:DP:GQ:PL	0/1:63,54:117:99:1511,0,1735	20	0	1	0
chr1	85158757	85158757	C	G	exonic	SYDE2	.	nonsynonymous SNV	SYDE2:NM_032184:exon7:c.G3578C:p.S1193T,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.132	B	0.031	B	0.000	D	0.857	N	0.695	N	3.03	T	-1.001	T	0.008	T	0.208	2.236	13.43	5.05	1.496	3.035	15.424	0.060	0.00707251258688	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.064	0.44905	T	0.132	0.27209	B	0.031	0.21939	B	0.000003	0.62929	D	0.141141	0.856995	0.28413	N	2.89	0.83701	M	3.03	0.08898	T	-1.07	0.27876	N	0.197	0.21710	-1.0013	0.29545	T	0.008	0.02926	T	10	0.10845104	0.20189	T	0.007073	0.18731	T	0.060	0.17295	0.133	0.03747	0.115124310173	0.11017	0.1666088604543345	0.16580	0.261245587848	0.28675	0.516227483749	0.41095	T	0.015102	0.12732	T	-0.18471	0.23038	T	-0.503099	0.22027	T	0.930839061737061	0.59580	D	0.288071	0.05188	T	0.4173487	0.61915	0.2945027	0.55481	0.4173487	0.61916	0.2945027	0.55480	-4.469	0.30481	T	.	.	0.083	0.09094	B	.	.	1.981754	0.25175	16.67	0.98157459387076473	0.38747	0.94396	0.61032	D	AEFGBI	0.405519	0.47837	N	-0.0772867669948402	0.38391	2.247741	0.106188889006462	0.44865	2.760029	0.995644873868107	0.34242	0.638212	0.43195	0	0.588015	0.36545	0	0.653264	0.51672	0	0.564101	0.26826	0	.	.	5.97	5.05	0.67566	3.147000	0.50335	2.710000	0.34229	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.989000	0.64315	0.0:0.7371:0.2629:0.0	15.424	0.74759	676	0.60355	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.4722	3593.29	88	chr1	85158757	.	C	G	3593.29	.	AC=17;AF=0.472;AN=36;BaseQRankSum=-5.110e-01;DP=1833;ExcessHet=25.1139;FS=163.566;InbreedingCoeff=-0.7941;MLEAC=18;MLEAF=0.500;MQ=60.00;MQRankSum=0.00;QD=2.78;ReadPosRankSum=0.475;SOR=12.271	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:50,18:71:77:.:.:77,0,651	1	0	17	3
chr1	86563694	86563694	G	A	exonic	CLCA4	.	nonsynonymous SNV	CLCA4:NM_012128:exon4:c.G482A:p.R161Q,	.	.	.	.	.	.	.	.	.	.	.	2267207	Autism|not_specified	Human_Phenotype_Ontology:HP:0000717,MONDO:MONDO:0005260,MeSH:D001321,MedGen:C0004352,OMIM:209850|MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0	D	0.992	D	0.867	P	0.000	D	1.000	D	2.945	M	2.0	T	-0.831	T	0.135	T	0.924	5.814	36	5.77	2.723	5.585	19.587	0.507	0.0460308405877	8.2e-05	.	4.146e-05	0.0001	0	0.0002	0	3.002e-05	0	0	3.23e-05	5	154602	rs377252384	1.998e-05	2.189e-05	1.919e-05	2.077e-05	0.0005	1.402e-05	1.212e-05	0.0001	7.568e-05	6.039e-05	0	0	0.0001	1.879e-05	0.0005	1.084e-05	6.67e-05	2.368e-05	1.316e-05	1.314e-05	1.286e-05	1.347e-05	2.942e-05	2.19e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.942e-05	0	0	0.009	0.57480	D	0.002	0.79402	D	0.992	0.64738	D	0.867	0.61644	P	0.000476	0.44119	D	0.146267	0.99374	0.81001	D	3.1	0.87590	M	2.0	0.21473	T	-3.73	0.70920	D	0.827	0.82257	-0.8306	0.53263	T	0.135	0.45029	T	10	0.86675215	0.85922	D	0.046031	0.62267	D	0.507	0.78786	.	.	0.593086074022	0.58986	0.8224445855638851	0.82201	0.368114708381	0.38370	0.543470025063	0.44936	T	0.415296	0.76859	T	0.0572713	0.59270	T	0.0811583	0.75657	D	0.849509060382843	0.50123	D	0.886311	0.61284	D	0.327029	0.55226	0.32003042	0.57961	0.327029	0.55226	0.32003042	0.57960	-11.68	0.83258	D	.	.	0.112	0.22061	B	.	.	4.510911	0.70634	25.6	0.9995487974375401	0.99969	0.95610	0.65411	D	AEFBI	0.641111	0.61856	D	0.859539035453097	0.89644	10.05719	0.829014746682173	0.91732	11.03911	0.998441003088668	0.36977	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	5.77	5.77	0.91077	6.192000	0.71992	5.154000	0.47766	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.900000	0.43643	0.0:0.0:1.0:0.0	19.587	0.95487	813	0.42397	Calcium-activated chloride channel, N-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1460.98	35	chr1	86563694	.	G	A	1460.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.92;DP=834;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.69;ReadPosRankSum=-1.090e-01;SOR=0.749	GT:AD:DP:GQ:PL	0/1:64,61:125:99:1475,0,1350	20	0	1	0
chr1	86580219	86580225	ACCTACT	0	exonic	CLCA4	.	.	.	.	.	466	116	49	1	890	941	0.180212	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7857	14600.39	280	chr1	86580219	.	ACCTACT	*,ACCTACTCCTACT,A	14600.39	.	AC=32,2,1;AF=0.762,0.048,0.024;AN=42;BaseQRankSum=-4.420e-01;DP=6355;ExcessHet=2.5830;FS=0.000;InbreedingCoeff=-0.2000;MLEAC=32,2,1;MLEAF=0.762,0.048,0.024;MQ=60.00;MQRankSum=0.00;QD=2.48;ReadPosRankSum=-7.110e-01;SOR=0.733	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,302,0,0:302:99:.:.:12706,910,0,12706,910,12706,12706,910,12706,12706	0	12	6	0
chr1	86580225	86580225	-	CCTACT	exonic	CLCA4	.	nonframeshift insertion	CLCA4:NM_012128:exon14:c.2640_2641insCCTACT:p.P887_D888insTP,	.	.	466	116	49	1	890	941	0.180212	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7857	14600.39	280	chr1	86580219	.	ACCTACT	*,ACCTACTCCTACT,A	14600.39	.	AC=32,2,1;AF=0.762,0.048,0.024;AN=42;BaseQRankSum=-4.420e-01;DP=6355;ExcessHet=2.5830;FS=0.000;InbreedingCoeff=-0.2000;MLEAC=32,2,1;MLEAF=0.762,0.048,0.024;MQ=60.00;MQRankSum=0.00;QD=2.48;ReadPosRankSum=-7.110e-01;SOR=0.733	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,302,0,0:302:99:.:.:12706,910,0,12706,910,12706,12706,910,12706,12706	0	12	6	0
chr1	89109833	89109833	C	G	exonic	GBP2	.	nonsynonymous SNV	GBP2:NM_004120:exon10:c.G1503C:p.K501N,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.44	T	0.0	B	0.004	B	0.215	N	1.000	N	-0.485	N	4.46	T	-0.965	T	0.001	T	0.024	-1.290	0.040	-7.91	-4.658	-3.381	3.332	0.017	0.00236787689433	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.842e-07	6.84e-07	1.362e-06	0	0.0002	0	0	.	.	0	0	0	0	0	0.0002	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.436	0.09374	T	0.552	0.09361	T	0.0	0.02946	B	0.004	0.10090	B	0.215470	0.03417	N	1.942830	1	0.08975	N	-0.32	0.03561	N	4.46	0.02102	T	-0.22	0.10480	N	0.054	0.02559	-0.9652	0.38171	T	0.001	0.00255	T	10	0.037824392	0.02161	T	0.002368	0.04618	T	0.017	0.02790	0.469	0.54214	0.0611884634855	0.05136	0.0950340740837036	0.09435	0.114875971495	0.12958	0.345634251833	0.17277	T	0.055117	0.29915	T	-0.44792	0.01161	T	-0.881182	0.00644	T	0.016833633184433	0.00437	T	0.178482	0.01759	T	0.03052987	0.02731	0.026101563	0.00682	0.03052987	0.02731	0.026101563	0.00682	-4.209	0.26882	T	.	.	0.121	0.25100	B	.	.	-0.716343	0.01283	0.068	0.22573141279801839	0.00914	0.00388	0.01954	N	AEFBI	0.038016	0.05318	N	-2.14195785033437	0.00103	0.00442532	-2.23976680734244	0.00091	0.004002466	0.999998081646851	0.74766	0.706548	0.73137	0	0.659464	0.62310	0	0.547309	0.15389	0	0.714379	0.83352	0	.	.	3.96	-7.91	0.01031	-3.024000	0.00704	-20.000000	0.00162	-1.805000	0.00619	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2391:0.321:0.3407:0.0993	3.332	0.06673	732	0.54084	Guanylate-binding protein/Atlastin, C-terminal|Guanylate-binding protein, C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1671.98	34	chr1	89109833	.	C	G	1671.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.034e+00;DP=843;ExcessHet=0.0000;FS=0.629;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.69;ReadPosRankSum=0.925;SOR=0.787	GT:AD:DP:GQ:PL	0/1:72,71:143:99:1686,0,1768	20	0	1	0
chr1	89584163	89584163	T	G	exonic	LRRC8B	.	nonsynonymous SNV	LRRC8B:NM_001369817:exon5:c.T1513G:p.W505G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.998	D	0.986	D	0.000	D	1.000	D	0.065	N	0.37	T	-0.892	T	0.123	T	0.863	3.355	17.30	5.63	2.265	7.985	16.141	0.510	0.0581675654476	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.68238	D	0.009	0.66756	D	0.998	0.73220	D	0.986	0.76916	D	0.000001	0.62929	D	0.000000	1	0.81001	D	2.24	0.63355	M	0.37	0.57729	T	-6.71	0.92518	D	0.79	0.78641	-0.8921	0.48749	T	0.123	0.42610	T	9	0.8527222	0.84457	D	0.058168	0.67222	D	0.510	0.78971	0.583	0.70990	0.358880540497	0.35496	0.5763240030259921	0.57561	1.92089905827	0.93006	0.780929684639	0.79068	T	0.694389	0.91143	D	0.271172	0.80544	D	0.151743	0.80292	D	0.985967874526978	0.76808	D	0.867413	0.56831	D	0.85845417	0.87968	0.8378159	0.90694	0.85845417	0.87970	0.8378159	0.90695	-11.111	0.80263	D	.	.	0.976	0.90465	P	.;.;.;.	.;.;.;.	4.857650	0.79462	27.1	0.97758393078232431	0.35788	0.99346	0.94813	D	AEFBI	0.851830	0.76871	D	0.542385656146889	0.69618	5.382871	0.616364778845751	0.76126	6.434246	0.999999999845109	0.74766	0.706548	0.73137	0	0.546412	0.12157	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	5.63	5.63	0.86108	7.928000	0.87040	7.898000	0.73400	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:0.0:1.0	16.141	0.81334	804	0.43891	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1159.98	37	chr1	89584163	.	T	G	1159.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.176e+00;DP=867;ExcessHet=0.0000;FS=0.783;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.75;ReadPosRankSum=1.43;SOR=0.823	GT:AD:DP:GQ:PL	0/1:44,47:91:99:1174,0,1282	20	0	1	0
chr1	94903484	94903484	C	A	exonic	CNN3	.	nonsynonymous SNV	CNN3:NM_001286055:exon2:c.G98T:p.R33L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.11	T	0.987	D	0.991	D	0.000	D	1.000	D	1.605	L	-3.06	D	0.667	D	0.819	D	0.921	5.718	36	5.85	2.753	7.811	20.165	0.841	0.224771133539	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.181	0.21884	T	0.371	0.16425	T	0.987	0.61912	D	0.991	0.79672	D	0.000000	0.84330	D	0.000000	1	0.81001	D	1.66	0.42513	L	-3.06	0.92457	D	-5.34	0.84674	D	0.81	0.83167	0.667	0.92757	D	0.819	0.93919	D	10	0.8533783	0.84524	D	0.224771	0.87966	D	0.841	0.95026	0.547	0.66156	0.892210669109	0.89114	0.9152503272479775	0.91500	2.12007149357	0.94997	0.745511889458	0.73784	T	0.648976	0.89325	D	0.447419	0.92366	D	0.40491	0.92272	D	0.998229205608368	0.93561	D	0.935906	0.84855	D	0.59895104	0.72635	0.616039	0.77648	0.59895104	0.72636	0.616039	0.77649	-11.762	0.83672	D	.	.	0.891	0.82175	P	.;.	.;.	4.906557	0.80697	27.4	0.99762702395885638	0.85172	0.99071	0.90800	D	AEFDGBIJ	0.963454	0.98535	D	0.713692392527125	0.80529	7.31455	0.759042602355502	0.86831	9.017137	1.0	0.98316	0.722319	0.85440	0	0.659464	0.62310	0	0.697927	0.64325	0	0.735409	0.98432	0	.	.	5.85	5.85	0.93663	7.899000	0.85994	5.956000	0.51737	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:1.0:0.0:0.0	20.165	0.98148	614	0.66605	.;Calponin homology domain|Calponin homology domain|Calponin homology domain|Calponin homology domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1633.98	43	chr1	94903484	.	C	A	1633.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.61;DP=903;ExcessHet=0.0000;FS=2.831;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.41;ReadPosRankSum=-9.550e-01;SOR=0.925	GT:AD:DP:GQ:PL	0/1:92,65:157:99:1648,0,2096	20	0	1	0
chr1	99881109	99881109	A	G	exonic	AGL	.	nonsynonymous SNV	AGL:NM_000028:exon15:c.A1933G:p.T645A	Glycogen storage disease IIIa, Autosomal recessive;Glycogen storage disease IIIb, Autosomal recessive	.	1	1518	3	0	0	3	0.000987167	.	.	516123	not_provided|Glycogen_storage_disease_type_III	MedGen:C3661900|MONDO:MONDO:0009291,MedGen:C0017922,OMIM:232400,Orphanet:366	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	1	T	0.0	B	0.001	B	0.000	D	0.929	N	-1.88	N	-1.69	D	-0.950	T	0.045	T	0.214	-1.943	0.007	4.77	1.042	3.101	5.560	0.222	0.0158302128751	.	.	4.947e-05	0	8.687e-05	0	0	7.497e-05	0	0	7.12e-05	11	154602	rs576969969	5.063e-05	5.062e-05	4.357e-05	5.776e-05	0.0004	4.126e-05	3.779e-05	0.0002	0.0002	0	0.0004	0.0002	0	0	0.0003	2.968e-05	0.0001	0.0001	5.258e-05	5.254e-05	3.855e-05	6.726e-05	0.0002	2.558e-05	1.83e-05	5.287e-05	2.835e-05	0	0	0.0002	0.0003	0	0	0	4.41e-05	0	0.0002	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.04355	B	0.000001	0.62929	D	0.098546	0.928607	0.27116	N	-2.735	0.00029	N	-1.69	0.82985	D	3.15	0.00121	N	0.406	0.44952	-0.9495	0.41058	T	0.045	0.19437	T	10	0.06758392	0.09438	T	0.01583	0.36777	T	0.222	0.51872	0.602	0.73346	0.717622369731	0.71514	0.41927865779125334	0.41843	0.0405049159976	0.04339	0.355544745922	0.18736	T	0.085475	0.37509	T	-0.298889	0.08764	T	-0.350954	0.39097	T	0.0457085811075749	0.04731	T	0.80112	0.46793	T	0.05034634	0.09082	0.05491873	0.09536	0.05034634	0.09081	0.05491873	0.09536	2.418	0.00035	T	0.06861885834221801	0.02506	0.056	0.00470	B	.;.;.;.;.	.;.;.;.;.	1.372198	0.17825	13.39	0.13762743206219819	0.00282	0.52448	0.29134	D	AEFBI	0.065726	0.12835	N	-0.838138258941096	0.12343	0.6010989	-0.569308984161782	0.20295	1.092799	4.63100418470655E-4	0.07066	0.706548	0.73137	0	0.724815	0.89359	0	0.65145	0.50148	0	0.655142	0.61905	0	.	.	5.9	4.77	0.60425	4.555000	0.60477	4.634000	0.44128	0.756000	0.94297	1.000000	0.71638	0.999000	0.35428	0.220000	0.22462	0.7363:0.0:0.1366:0.1271	5.560	0.16421	856	0.34373	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.02381	1134.98	36	chr1	99881109	.	A	G	1134.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.666;DP=769;ExcessHet=0.0000;FS=0.930;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.55;ReadPosRankSum=0.854;SOR=0.569	GT:AD:DP:GQ:PL	0/1:31,42:73:99:1149,0,827	20	0	1	0
chr1	99884396	99884396	T	C	exonic	AGL	.	nonsynonymous SNV	AGL:NM_000028:exon19:c.T2491C:p.Y831H	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	.	.	.	.	.	.	.	.	0.52	T	0.913	P	0.503	P	0.002	N	0.999	D	1.525	L	1.57	T	-1.113	T	0.049	T	0.261	3.205	16.73	5.8	2.216	7.642	16.134	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;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.4048	7236.94	34	chr1	99884396	.	T	C	7236.94	.	AC=17;AF=0.405;AN=42;BaseQRankSum=-4.178e+00;DP=2325;ExcessHet=25.1139;FS=198.804;InbreedingCoeff=-0.6802;MLEAC=17;MLEAF=0.405;MQ=60.00;MQRankSum=0.00;QD=3.71;ReadPosRankSum=1.56;SOR=12.492	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:103,38:141:99:.:.:456,0,2382	4	0	17	0
chr1	99884400	99884400	T	C	exonic	AGL	.	nonsynonymous SNV	AGL:NM_000028:exon19:c.T2495C:p.I832T	Glycogen storage disease IIIa, Autosomal recessive;Glycogen storage disease IIIb, Autosomal recessive	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.043	B	0.045	B	0.000	D	0.997	D	0	N	1.65	T	-1.054	T	0.016	T	0.371	2.784	15.27	5.8	2.216	5.903	16.134	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;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.3571	4473.53	34	chr1	99884400	.	T	C	4473.53	.	AC=15;AF=0.357;AN=42;BaseQRankSum=-3.868e+00;DP=2293;ExcessHet=17.4423;FS=183.125;InbreedingCoeff=-0.5526;MLEAC=15;MLEAF=0.357;MQ=60.00;MQRankSum=0.00;QD=2.55;ReadPosRankSum=1.66;SOR=12.223	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:108,36:144:99:.:.:483,0,2442	6	0	15	0
chr1	103026268	103026268	T	C	exonic	COL11A1	.	nonsynonymous SNV	COL11A1:NM_001854:exon6:c.A845G:p.E282G	Fibrochondrogenesis 1, Autosomal recessive;Marshall syndrome, Autosomal dominant;Stickler syndrome, type II, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	275734	Inborn_genetic_diseases|Stickler_syndrome_type_2|Fibrochondrogenesis_1|not_provided	MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0011493,MedGen:C1858084,OMIM:604841,Orphanet:828,Orphanet:90654|MONDO:MONDO:0009226,MedGen:C3278138,OMIM:228520,Orphanet:2021|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.37	T	0.319	B	0.055	B	.	.	1.000	D	2.135	M	-2.42	D	-0.116	T	0.485	T	0.282	2.820	15.39	5.39	2.046	2.917	15.409	0.304	0.0616479675708	0.0004	0.000199681	0.0003	0	0	0	0	0.0004	0.0011	6.056e-05	0.0002135	33	154602	rs199539580	0.0001	0.0001	0.0001	0.0001	0.0002	0.0001	0.0001	9.792e-05	7.838e-05	2.987e-05	0	0.0041	0	0	0.0002	4.677e-05	0.0002	0.0002	0.0002	0.0002	0.0002	0.0001	0.0002	0.0001	8.712e-05	4.766e-05	3.339e-05	4.81e-05	0	0	0.0035	0	0	0	0.0001	0.0005	0.0002	0.249	0.17183	T	0.437	0.23298	T	0.319	0.32965	B	0.055	0.25995	B	.	.	.	.	0.99986	0.81001	D	1.735	0.44892	L	-2.42	0.88767	D	-0.44	0.14588	N	0.216	0.30461	-0.1157	0.79735	T	0.485	0.80390	T	9	0.010509074	0.00233	T	0.061648	0.68398	D	0.304	0.62510	.	.	0.388425449554	0.38455	0.3259171171562219	0.32504	0.16140204247	0.18220	0.362784087658	0.19791	T	0.143889	0.48023	T	-0.135358	0.30633	T	-0.206507	0.54029	T	0.0220699496694212	0.00917	T	0.666933	0.28956	T	0.13285843	0.30922	0.15250972	0.35878	0.10596972	0.25056	0.17495535	0.39926	-5.534	0.44373	T	.	.	0.085	0.12797	B	.;.;.;.;.;.	.;.;.;.;.;.	2.779384	0.36502	20.3	0.9952905667556089	0.69777	0.88150	0.47952	D	AEFDBI	0.433559	0.49497	N	0.0815132748306517	0.45600	2.81391	0.205359769616328	0.50146	3.209598	0.998093827706674	0.36419	0.643511	0.44296	0	0.573888	0.26702	0	0.688494	0.62686	0	0.564101	0.26826	0	.	.	5.39	5.39	0.77615	2.912000	0.48479	3.484000	0.38668	0.654000	0.53741	0.998000	0.41325	1.000000	0.68203	0.999000	0.91618	0.0:0.0:0.0:1.0	15.409	0.74625	824	0.40336	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0.02381	2023.98	38	chr1	103026268	.	T	C	2023.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.880;DP=890;ExcessHet=0.0000;FS=0.551;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.43;ReadPosRankSum=0.084;SOR=0.639	GT:AD:DP:GQ:PL	0/1:95,82:177:99:2038,0,2255	20	0	1	0
chr1	109092956	109092956	A	C	exonic	TMEM167B	.	nonsynonymous SNV	TMEM167B:NM_001322248:exon2:c.A77C:p.K26T	.	.	425	1089	8	0	0	8	0.00365965	.	.	2679106	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.39	T	0.669	P	0.355	B	0.000	U	1.000	D	.	.	.	.	-1.014	T	0.099	T	0.771	4.212	21.9	5.63	2.134	8.222	13.800	0.262	0.023389137893	7.7e-05	.	9.06e-05	9.61e-05	0	0	0	0.0001	0	0.0002	9.06e-05	14	154602	rs149500592	8.209e-05	8.209e-05	4.764e-05	0.0001	0.0008	7.002e-05	6.552e-05	0.0006	0.0006	0	0	0	0	0	0.0005	4.137e-05	4.967e-05	0.0008	3.944e-05	3.94e-05	5.14e-05	2.691e-05	7.349e-05	1.716e-05	1.13e-05	2.846e-05	1.858e-05	2.415e-05	0	0	0	0	0	0	7.349e-05	0	0	0.055	0.38407	T	0.105	0.38016	T	0.669	0.41149	P	0.355	0.42984	B	0.000001	0.62929	U	0.000000	0.99951	0.47363	D	.	.	.	.	.	.	-2.86	0.60188	D	0.707	0.71055	-1.0136	0.25784	T	0.099	0.36805	T	8	0.38210648	0.54271	T	0.023389	0.46348	T	0.262	0.57482	.	.	0.281547015583	0.27767	0.9732073783109457	0.97309	1.13977541105	0.78881	0.828316509724	0.86305	D	0.116249	0.43545	T	0.00982123	0.53001	T	0.119062	0.78173	D	0.249846864723333	0.22866	T	0.952205	0.81731	D	0.3905611	0.60072	0.27495378	0.53428	0.3905611	0.60072	0.27495378	0.53427	-3.615	0.18074	T	.	.	0.792	0.76910	P	.	.	4.153158	0.62308	24.4	0.9976477748342184	0.85335	0.97103	0.72707	D	AEFBI	0.848980	0.76580	D	0.378853499870447	0.60276	4.214978	0.482948838849808	0.66861	5.007417	0.999999999993897	0.74766	0.722319	0.85440	0	0.685571	0.66316	0	0.644132	0.48003	0	0.735409	0.98432	0	.	.	5.63	5.63	0.86108	8.425000	0.90138	11.176000	0.88137	0.754000	0.88378	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	1.0:0.0:0.0:0.0	13.800	0.62682	720	0.55521	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.04762	2959.11	35	chr1	109092956	.	A	C	2959.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.54;DP=930;ExcessHet=0.1072;FS=1.433;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=10.57;ReadPosRankSum=0.318;SOR=0.652	GT:AD:DP:GQ:PL	0/1:67,64:131:99:1569,0,1533	19	0	2	0
chr1	109191727	109191727	G	A	exonic	ELAPOR1	.	nonsynonymous SNV	ELAPOR1:NM_001284353:exon6:c.G533A:p.G178D	.	.	419	1101	2	0	0	2	0.000907441	0.0012	0.08	.	.	.	.	.	.	.	.	.	.	.	.	.	0.88	T	1.0	D	0.997	D	0.000	D	1.000	D	0.55	N	2.85	T	-1.063	T	0.024	T	0.961	0.448	6.430	5.17	2.703	2.372	13.348	0.272	0.00814647037173	0.0026	.	0.0019	0.0004	0.0005	0	0.0015	0.0027	0	0.0018	0.0020828	322	154602	rs41279690	0.0036	0.0036	0.0036	0.0035	0.0043	0.0035	0.0035	0.0042	0.0042	0.0005	0.0003	0.0006	2.519e-05	0.0015	0.0012	0.0043	0.0018	0.0019	0.0019	0.0019	0.0019	0.0019	0.0034	0.0017	0.0016	0.0030	0.0029	0.0009	0	0.0002	0.0009	0	0.0008	0	0.0034	0.0014	0.0006	1.0	0.00964	T	1.0	0.01155	T	1.0	0.90584	D	0.991	0.86255	D	0.000001	0.84330	D	0.053944	0.999714	0.48481	D	1.065	0.27018	L	2.85	0.12884	T	0.66	0.03090	N	0.401	0.44952	-1.0634	0.10926	T	0.024	0.10419	T	10	0.011379093	0.00249	T	0.008146	0.21598	T	0.272	0.58758	.	.	0.44307954383	0.43928	0.7917385801562202	0.79125	0.842956260801	0.68156	0.620166540146	0.55752	T	0.017876	0.14505	T	-0.19173	0.22004	T	-0.0430563	0.67495	D	0.0559133724069985	0.06509	T	0.835916	0.50694	T	0.1933312	0.41038	0.20017408	0.43936	0.1933312	0.41038	0.20017408	0.43935	-4.88	0.46604	T	.	.	0.686	0.78621	P	.;.;.	.;.;.	3.591207	0.50680	23.0	0.82331344840790843	0.14137	0.93833	0.59322	D	AEFDBCI	0.638029	0.61659	D	0.309919258835865	0.56658	3.830741	0.362012110489598	0.59234	4.099608	0.999999997289475	0.74766	0.65861	0.49226	0	0.615948	0.52940	0	0.725225	0.93170	0	0.635259	0.50027	0	.	.	5.17	5.17	0.70848	2.333000	0.43570	9.909000	0.82412	0.674000	0.70861	0.996000	0.39380	1.000000	0.68203	0.470000	0.28341	0.0:0.1587:0.8413:0.0	13.348	0.60029	664	0.61548	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1177.98	35	chr1	109191727	.	G	A	1177.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.77;DP=796;ExcessHet=0.0000;FS=10.614;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.09;ReadPosRankSum=-5.500e-01;SOR=1.721	GT:AD:DP:GQ:PL	0/1:48,42:90:99:1192,0,1202	20	0	1	0
chr1	109250116	109250116	-	CGC	exonic	CELSR2	.	nonframeshift insertion	CELSR2:NM_001408:exon1:c.37_38insCGC:p.P16_L17insP,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7381	28794.1	33	chr1	109250113	.	ACGC	ACGCCGC,A	28794.1	.	AC=31,1;AF=0.738,0.024;AN=42;BaseQRankSum=0.990;DP=1066;ExcessHet=1.5138;FS=0.708;InbreedingCoeff=-0.0500;MLEAC=31,1;MLEAF=0.738,0.024;MQ=60.00;MQRankSum=0.00;QD=30.86;ReadPosRankSum=-5.290e-01;SOR=0.595	GT:AD:DP:GQ:PL	1/1:0,36,0:36:99:1510,108,0,1511,108,1511	1	11	8	0
chr1	109250114	109250116	CGC	-	exonic	CELSR2	.	nonframeshift deletion	CELSR2:NM_001408:exon1:c.35_37del:p.P16del,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.599e-06	3.557e-05	7.286e-06	5.903e-06	3.316e-05	3.11e-06	2.25e-06	8.9e-07	6e-07	3.316e-05	0	0	2.792e-05	0	0	3.793e-06	3.555e-05	1.259e-05	0	6.573e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7381	28794.1	33	chr1	109250113	.	ACGC	ACGCCGC,A	28794.1	.	AC=31,1;AF=0.738,0.024;AN=42;BaseQRankSum=0.990;DP=1066;ExcessHet=1.5138;FS=0.708;InbreedingCoeff=-0.0500;MLEAC=31,1;MLEAF=0.738,0.024;MQ=60.00;MQRankSum=0.00;QD=30.86;ReadPosRankSum=-5.290e-01;SOR=0.595	GT:AD:DP:GQ:PL	1/1:0,36,0:36:99:1510,108,0,1511,108,1511	1	11	8	0
chr1	109508616	109508616	G	C	exonic	AMIGO1	.	nonsynonymous SNV	AMIGO1:NM_020703:exon2:c.C297G:p.N99K,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.75	T	0.375	B	0.25	B	0.024	N	0.989	D	-0.01	N	4.38	T	-0.907	T	0.002	T	0.107	1.805	12.00	1.09	0.047	0.976	9.065	0.048	0.00471979587979	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.402e-05	0.0008	2.459e-05	2.345e-05	0.0002	1.744e-05	1.544e-05	2.006e-05	1.747e-05	5.989e-05	0	0	0	0	0.0002	2.799e-05	1.66e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.018	0.50676	D	0.096	0.39340	T	0.375	0.34209	B	0.25	0.39011	B	0.023848	0.26367	N	0.283710	0.989351	0.40936	D	-0.805	0.01590	N	4.38	0.02255	T	-0.42	0.14193	N	0.251	0.32481	-0.9074	0.47168	T	0.002	0.00526	T	10	0.13895068	0.26423	T	0.00472	0.11753	T	0.048	0.13305	0.424	0.46857	0.303871581278	0.30001	0.3848348631254194	0.38398	1.20472787136	0.80666	0.608450233936	0.54097	T	0.010575	0.09538	T	-0.290714	0.09565	T	-0.655367	0.08582	T	0.544324159622192	0.34265	D	0.79742	0.44137	T	0.08433104	0.19514	0.09508742	0.22536	0.08433104	0.19513	0.09508742	0.22536	-4.691	0.33295	T	.	.	0.266	0.50527	B	.;.	.;.	1.875938	0.23830	16.17	0.98865697297219557	0.47545	0.82763	0.41947	D	AEFBCI	0.391245	0.46976	N	-0.506877925592794	0.21857	1.163021	-0.39326206815582	0.25196	1.384239	0.905472008325259	0.26205	0.676563	0.55306	0	0.610034	0.51514	0	0.673471	0.61138	0	0.579976	0.35079	0	.	.	4.99	1.09	0.19517	1.118000	0.30860	3.404000	0.38147	0.676000	0.76740	0.809000	0.29839	1.000000	0.68203	1.000000	0.97212	0.304:0.0:0.696:0.0	9.065	0.35621	615	0.66512	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1944	1579.24	62	chr1	109508616	.	G	C	1579.24	.	AC=7;AF=0.194;AN=36;BaseQRankSum=-3.065e+00;DP=1797;ExcessHet=2.5830;FS=184.263;InbreedingCoeff=-0.2692;MLEAC=8;MLEAF=0.222;MQ=60.00;MQRankSum=0.00;QD=2.22;ReadPosRankSum=1.17;SOR=8.429	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:72,26:103:99:.:.:114,0,1858	11	0	7	3
chr1	110222977	110222977	C	G	exonic	KCNC4	.	nonsynonymous SNV	KCNC4:NM_001039574:exon2:c.C692G:p.A231G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	0.727	P	0.3	B	0.001	D	0.994	D	1.305	L	-4.19	D	0.589	D	0.723	D	0.404	2.090	12.95	4.88	2.425	3.659	11.857	0.456	0.0722916072849	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0007	0.0034	0.0008	0.0006	0.0008	0.0007	0.0006	0.0008	0.0008	0.0008	0	0.0003	0.0002	1.877e-05	0.0002	0.0008	0.0008	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.067	0.35918	T	0.315	0.21144	T	0.051	0.42493	B	0.157	0.41053	B	0.000921	0.41028	D	0.275191	0.99437	0.42258	D	2.415	0.69758	M	-4.19	0.96908	D	-2.8	0.59226	D	0.438	0.47672	0.589	0.91750	D	0.723	0.90514	D	10	0.35339242	0.52146	T	0.072292	0.71493	D	0.456	0.75483	0.363	0.36874	0.993177892102	0.99310	0.7526387987383419	0.75210	1.08132311467	0.77145	0.672360956669	0.63174	T	0.667086	0.90076	D	0.175355	0.71615	D	0.0141088	0.71248	D	0.842766284942627	0.49555	D	0.923008	0.74652	D	0.2548791	0.48519	0.22605044	0.47570	0.2548791	0.48519	0.22605044	0.47569	-8.263	0.63102	D	.	.	0.237	0.47944	B	.;.;.	.;.;.	3.598856	0.50823	23.0	0.99047415397653182	0.51162	0.96210	0.68040	D	AEFDGBI	0.477094	0.52023	N	0.0886515093145786	0.45935	2.841749	0.218624017239798	0.50879	3.275622	0.993656479131254	0.33302	0.651	0.46895	0	0.588066	0.40923	0	0.723109	0.80598	0	0.683762	0.67416	0	.	.	4.88	4.88	0.63131	2.965000	0.48892	7.666000	0.64515	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:0.9187:0.0:0.0813	11.857	0.51719	702	0.57624	Ion transport domain;Ion transport domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.2812	1718.31	106	chr1	110222977	.	C	G	1718.31	.	AC=9;AF=0.281;AN=32;BaseQRankSum=-2.042e+00;DP=2418;ExcessHet=4.7172;FS=80.588;InbreedingCoeff=-0.3827;MLEAC=11;MLEAF=0.344;MQ=60.00;MQRankSum=0.00;QD=1.44;ReadPosRankSum=1.63;SOR=11.116	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:138,24:162:99:0|1:110222977_C_G:116,0,5402:110222977	7	0	9	5
chr1	110222980	110222980	C	G	exonic	KCNC4	.	nonsynonymous SNV	KCNC4:NM_001039574:exon2:c.C695G:p.S232C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.981	D	0.000	D	1.000	D	2.695	M	-4.48	D	1.099	D	0.949	D	0.846	3.899	19.82	4.88	2.425	7.818	18.385	0.929	0.40933610176	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.636e-05	0.0009	7.295e-05	5.971e-05	8.013e-05	5.553e-05	5.161e-05	6.603e-05	6.157e-05	3.015e-05	0	0	2.525e-05	0	0	8.013e-05	6.68e-05	2.327e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	0.992	0.90584	D	0.945	0.73362	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.905	0.96153	H	-4.48	0.97606	D	-4.53	0.78388	D	0.831	0.82660	1.099	0.99607	D	0.949	0.98331	D	10	0.8837731	0.87697	D	0.409336	0.93564	D	0.929	0.98304	0.653	0.79068	0.998239969463	0.99822	0.9428938060723817	0.94271	2.16590570783	0.95413	0.900061309338	0.96447	D	0.865354	0.97046	D	0.507574	0.94527	D	0.491319	0.94446	D	0.996615469455719	0.89714	D	0.968103	0.88413	D	0.81521255	0.84899	0.67973554	0.81184	0.81521255	0.84900	0.67973554	0.81185	-14.23	0.93792	D	.	.	0.990	0.93569	P	.;.;.	.;.;.	5.345809	0.89688	31	0.99023122748486747	0.50634	0.99055	0.90567	D	AEFDGBI	0.873031	0.79518	D	0.820546623686913	0.87372	9.195578	0.766985295263051	0.87421	9.215925	0.999999999988739	0.74766	0.706298	0.61202	0	0.588066	0.40923	0	0.709663	0.75317	0	0.635551	0.53088	0	.	.	4.88	4.88	0.63131	7.905000	0.86479	7.666000	0.64515	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:1.0:0.0:0.0	18.385	0.90408	702	0.57624	Ion transport domain;Ion transport domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.2	1638.75	109	chr1	110222980	.	C	G	1638.75	.	AC=8;AF=0.200;AN=40;BaseQRankSum=-3.817e+00;DP=2206;ExcessHet=3.5521;FS=69.990;InbreedingCoeff=-0.2544;MLEAC=8;MLEAF=0.200;MQ=60.00;MQRankSum=0.00;QD=1.50;ReadPosRankSum=1.87;SOR=10.509	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:143,24:167:99:0|1:110222977_C_G:102,0,5518:110222977	12	0	8	1
chr1	110222982	110222982	C	T	exonic	KCNC4	.	nonsynonymous SNV	KCNC4:NM_001039574:exon2:c.C697T:p.L233F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	D	1.0	D	0.995	D	0.000	D	1.000	D	0.945	L	-4.56	D	1.064	D	0.913	D	0.593	4.139	21.4	4.88	2.425	7.818	18.385	0.748	0.257215744657	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.033	0.44358	D	0.036	0.52060	D	0.092	0.67487	B	0.248	0.65830	B	0.000000	0.84330	D	0.000000	1	0.81001	D	2.485	0.72352	M	-4.56	0.97772	D	-2.92	0.61129	D	0.71	0.71321	1.064	0.98441	D	0.913	0.97120	D	10	0.82669085	0.81846	D	0.257216	0.89360	D	0.748	0.91328	0.51	0.60693	0.998798673634	0.99879	0.8353798834876841	0.83497	2.2713391689	0.96273	0.879670739174	0.93916	D	0.684204	0.90757	D	0.250026	0.78605	D	0.121369	0.78326	D	0.976836979389191	0.71561	D	0.976702	0.93381	D	0.6352031	0.74575	0.47092855	0.69323	0.6352031	0.74577	0.47092855	0.69323	-10.787	0.78477	D	.	.	0.984	0.92685	P	.;.;.	.;.;.	4.840138	0.79009	27.0	0.99871710190157814	0.94902	0.98768	0.86602	D	AEFDGBI	0.882603	0.81085	D	0.464917858942242	0.65055	4.774502	0.528151035303576	0.69893	5.425667	0.999999999988739	0.74766	0.706298	0.61202	0	0.588066	0.40923	0	0.709663	0.75317	0	0.635551	0.53088	0	.	.	4.88	4.88	0.63131	6.148000	0.71557	7.666000	0.64515	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:1.0:0.0:0.0	18.385	0.90408	702	0.57624	Ion transport domain;Ion transport domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.04762	560.11	39	chr1	110222982	.	C	T	560.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-5.570e+00;DP=1251;ExcessHet=0.1072;FS=98.421;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=1.83;ReadPosRankSum=1.62;SOR=7.063	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:143,24:167:99:0|1:110222977_C_G:102,0,5518:110222977	19	0	2	0
chr1	114732648	114732648	C	G	exonic	CSDE1	.	nonsynonymous SNV	CSDE1:NM_001242893:exon8:c.G913C:p.V305L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.033	B	0.015	B	0.000	D	0.999	D	-1.545	N	.	.	-0.951	T	0.015	T	0.585	0.535	6.895	5.89	2.787	4.426	15.011	0.141	0.00302580783907	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.572e-05	0.0005	3.966e-05	3.175e-05	4.338e-05	2.774e-05	2.512e-05	3.36e-05	2.971e-05	0	0	3.834e-05	0	0	0	4.338e-05	3.322e-05	1.161e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	1.0	0.01155	T	0.019	0.17989	B	0.007	0.12992	B	0.000054	0.53742	D	0.166893	0.995854	0.46032	D	-1.005	0.01165	N	.	.	.	1.46	0.00775	N	0.49	0.52651	-0.9514	0.40730	T	0.015	0.06186	T	9	0.1688331	0.31457	T	0.003026	0.06487	T	0.141	0.37795	0.283	0.23961	0.438345833192	0.43453	0.47999988597583465	0.47919	0.664778676347	0.59103	0.696112155914	0.66584	T	0.116941	0.43665	T	-0.00863497	0.50457	T	-0.25018	0.49799	T	0.698000967502594	0.40624	D	0.917108	0.76468	D	0.059146494	0.11985	0.09358893	0.22112	0.059146494	0.11985	0.09358893	0.22111	-6.727	0.59015	T	.	.	0.240	0.47513	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	4.228914	0.64023	24.7	0.79526294004721843	0.12782	0.91046	0.52754	D	AEFBCI	0.679294	0.64337	D	-0.4128236221243	0.25018	1.355104	-0.0758002100467609	0.36392	2.117378	0.809094888011598	0.24323	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.89	5.89	0.94758	4.456000	0.59820	7.732000	0.67763	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.980000	0.58198	0.1424:0.8576:0.0:0.0	15.011	0.71206	854	0.34840	.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.5	6766.73	121	chr1	114732648	.	C	G	6766.73	.	AC=21;AF=0.500;AN=42;BaseQRankSum=-2.661e+00;DP=3409;ExcessHet=54.0936;FS=245.736;InbreedingCoeff=-0.9995;MLEAC=21;MLEAF=0.500;MQ=60.00;MQRankSum=0.00;QD=2.26;ReadPosRankSum=1.31;SOR=12.755	GT:AD:DP:GQ:PL	0/1:106,47:167:99:355,0,1608	0	0	21	0
chr1	117075114	117075114	A	G	exonic	TTF2	.	nonsynonymous SNV	TTF2:NM_003594:exon5:c.A530G:p.D177G,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.14	T	0.004	B	0.006	B	0.457	N	1.000	N	1.59	L	-2.26	D	-0.762	T	0.291	T	0.032	2.133	13.09	-4.06	-0.643	-0.172	6.280	0.154	0.0132360835549	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.114	0.28646	T	0.09	0.40267	T	0.001	0.07471	B	0.002	0.06944	B	0.457106	0.04848	N	1.398010	1	0.08975	N	1.14	0.29013	L	-2.26	0.87352	D	-0.75	0.21003	N	0.083	0.05929	-0.7620	0.57296	T	0.291	0.66259	T	10	0.058485538	0.06882	T	0.013236	0.32488	T	0.154	0.40340	0.183	0.09131	0.643941902393	0.64099	0.08108825765098707	0.08043	0.241580751267	0.26684	0.243414014578	0.03106	T	0.021237	0.16575	T	-0.176365	0.24280	T	-0.491113	0.23275	T	0.054866618141063	0.06334	T	0.59544	0.22079	T	0.049401704	0.08766	0.062875554	0.12368	0.049401704	0.08766	0.062875554	0.12368	-3.245	0.13038	T	.	.	0.073	0.04723	B	.	.	0.063571	0.04739	1.366	0.94533126519332245	0.25034	0.11347	0.16573	N	AEFBI	0.048164	0.08190	N	-1.03133576847904	0.07959	0.3715235	-1.124398888183	0.07236	0.3512182	0.435799075252417	0.20411	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.86	-4.06	0.03718	0.032000	0.13620	0.077000	0.14340	0.756000	0.94297	0.000000	0.06391	0.001000	0.17328	0.008000	0.08271	0.3761:0.3505:0.2734:0.0	6.280	0.20207	895	0.25842	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.07143	116.39	72	chr1	117075114	.	ACC	GCC,A	116.39	.	AC=2,1;AF=0.048,0.024;AN=42;BaseQRankSum=-3.677e+00;DP=1342;ExcessHet=0.3300;FS=114.546;InbreedingCoeff=-0.0769;MLEAC=2,1;MLEAF=0.048,0.024;MQ=60.00;MQRankSum=0.00;QD=0.47;ReadPosRankSum=2.15;SOR=7.222	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:61,15,0:76:52:0|1:117075114_A_G:52,0,2052,233,2094,2327:117075114	18	0	2	0
chr1	117075115	117075116	CC	-	exonic	TTF2	.	frameshift deletion	TTF2:NM_003594:exon5:c.531_532del:p.S179Ifs*26,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	116.39	72	chr1	117075114	.	ACC	GCC,A	116.39	.	AC=2,1;AF=0.048,0.024;AN=42;BaseQRankSum=-3.677e+00;DP=1342;ExcessHet=0.3300;FS=114.546;InbreedingCoeff=-0.0769;MLEAC=2,1;MLEAF=0.048,0.024;MQ=60.00;MQRankSum=0.00;QD=0.47;ReadPosRankSum=2.15;SOR=7.222	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:61,15,0:76:52:0|1:117075114_A_G:52,0,2052,233,2094,2327:117075114	18	0	2	0
chr1	117075115	117075115	C	G	exonic	TTF2	.	nonsynonymous SNV	TTF2:NM_003594:exon5:c.C531G:p.D177E,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.92	T	0.004	B	0.006	B	0.457	N	1.000	N	0.895	L	-2.09	D	-0.949	T	0.152	T	0.024	1.069	9.364	-11.7	-1.989	-2.698	7.671	0.294	0.0133099251909	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.212	0.19500	T	0.565	0.08961	T	0.003	0.11197	B	0.002	0.06944	B	0.457106	0.04848	N	1.398010	1	0.08975	N	0.795	0.19620	N	-2.09	0.86077	D	-0.44	0.14588	N	0.025	0.00485	-0.9489	0.41160	T	0.152	0.48049	T	10	0.036800593	0.01997	T	0.01331	0.32613	T	0.294	0.61388	0.15	0.05339	0.419713421852	0.41588	0.01867910000120359	0.01821	0.170441058877	0.19214	0.245176702738	0.03277	T	0.007389	0.06799	T	-0.230908	0.16530	T	-0.56946	0.15500	T	0.0853659222227376	0.10658	T	0.475952	0.14261	T	0.027897246	0.02046	0.030979753	0.01624	0.027897246	0.02046	0.030979753	0.01624	-2.944	0.09590	T	.	.	0.087	0.11366	B	.	.	-2.604579	0.00025	0.001	0.68458849430015456	0.08665	0.01377	0.04694	N	AEFBI	0.025145	0.01673	N	-2.17914600982642	0.00085	0.003650813	-2.26845868672044	0.00078	0.003437762	0.999999941412917	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.86	-11.7	0.00035	-1.899000	0.01691	-5.877000	0.01566	-1.734000	0.00710	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.0817:0.3909:0.4201:0.1073	7.671	0.27624	895	0.25842	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.07143	75.57	72	chr1	117075115	.	C	G,*	75.57	.	AC=2,1;AF=0.048,0.024;AN=42;BaseQRankSum=-3.836e+00;DP=1311;ExcessHet=0.3300;FS=113.927;InbreedingCoeff=-0.0852;MLEAC=2,1;MLEAF=0.048,0.024;MQ=60.00;MQRankSum=0.00;QD=0.30;ReadPosRankSum=3.35;SOR=7.222	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:61,15,0:76:52:0|1:117075114_A_G:52,0,2052,233,2094,2327:117075114	18	0	2	0
chr1	117075115	117075115	C	0	exonic	TTF2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	75.57	72	chr1	117075115	.	C	G,*	75.57	.	AC=2,1;AF=0.048,0.024;AN=42;BaseQRankSum=-3.836e+00;DP=1311;ExcessHet=0.3300;FS=113.927;InbreedingCoeff=-0.0852;MLEAC=2,1;MLEAF=0.048,0.024;MQ=60.00;MQRankSum=0.00;QD=0.30;ReadPosRankSum=3.35;SOR=7.222	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:61,15,0:76:52:0|1:117075114_A_G:52,0,2052,233,2094,2327:117075114	18	0	2	0
chr1	120005529	120005529	C	T	exonic	NOTCH2	.	nonsynonymous SNV	NOTCH2:NM_001200001:exon3:c.G215A:p.R72H	Alagille syndrome 2, Autosomal dominant;Hajdu-Cheney syndrome, Autosomal dominant	.	1	1514	6	1	0	8	0.00263505	.	.	364427	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.06	T	0.656	P	0.253	B	0.006	U	1.000	N	0.515	N	0.42	T	-1.108	T	0.042	T	0.18	2.053	12.82	3.51	1.270	1.831	6.567	0.093	.	0.0002	0.00519169	0.0035	0.0002	8.975e-05	0.0004	0	0.0001	0.0023	0.0241	0.0012679	33	26028	rs201838650	0.0015	0.0015	0.0009	0.0022	0.0243	0.0015	0.0015	0.0234	0.0230	0.0002	0.0001	7.659e-05	0.0004	0	0.0003	3.254e-05	0.0015	0.0243	0.0008	0.0008	0.0004	0.0012	0.0228	0.0007	0.0006	0.0193	0.0180	2.435e-05	0	0.0001	0	0.0002	0	0	4.441e-05	0.0010	0.0228	0.55	0.06585	T	0.172	0.34716	T	0.656	0.40834	P	0.253	0.39112	B	0.006021	0.32339	U	0.000000	1	0.08975	N	0.425	0.12573	N	0.42	0.56937	T	-0.79	0.21860	N	0.352	0.45047	-1.1083	0.03219	T	0.042	0.17910	T	10	0.015218258	0.00319	T	.	.	.	0.093	0.26882	.	.	0.586462102955	0.58320	0.38202645344111025	0.38117	1.42373316533	0.85663	0.414664924145	0.27102	T	0.54962	0.84726	D	-0.499828	0.00573	T	-0.472491	0.25248	T	0.0215367702644792	0.00857	T	0.889911	0.62289	D	0.044176515	0.07017	0.039038505	0.03907	0.048702903	0.08529	0.035759732	0.02889	-4.167	0.26272	T	.	.	0.074	0.22537	B	.;.;.	.;.;.	3.222316	0.43907	21.8	0.99500351401923359	0.67973	0.45660	0.27588	N	AEFBI	0.068410	0.13493	N	-0.0910239517460659	0.37786	2.20338	0.0427882768521916	0.41723	2.511555	4.26304549591561E-4	0.06935	0.706298	0.61202	0	0.60822	0.50512	0	0.658983	0.55881	0	0.613276	0.41899	0	.	.	5.4	3.51	0.39297	1.983000	0.40270	1.308000	0.25520	0.433000	0.20966	0.800000	0.29721	1.000000	0.68203	0.992000	0.67800	0.0:0.673:0.1581:0.1689	6.567	0.21715	889	0.27310	EGF-like domain|EGF-like domain|EGF-like calcium-binding domain|EGF-like domain;EGF-like domain|EGF-like domain|EGF-like calcium-binding domain|EGF-like domain;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	0.02381	1614.98	37	chr1	120005529	.	C	T	1614.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.87;DP=829;ExcessHet=0.0000;FS=0.726;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=46.26;MQRankSum=-1.230e-01;QD=13.46;ReadPosRankSum=0.667;SOR=0.793	GT:AD:DP:GQ:PL	0/1:58,62:120:99:1629,0,1333	20	0	1	0
chr1	145872067	145872067	C	A	exonic	ANKRD35	.	nonsynonymous SNV	ANKRD35:NM_001280799:exon8:c.G2432T:p.R811L	.	.	432	1087	2	1	0	4	0.00183655	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.27	T	0.487	P	0.056	B	0.000	D	1.000	D	2.24	M	0.34	T	-1.010	T	0.084	T	0.378	3.406	17.50	4.56	1.514	2.599	12.050	0.079	0.00254317554264	.	.	.	.	.	.	.	.	.	.	.	.	.	rs370875034	0.0013	0.0013	0.0007	0.0019	0.0208	0.0013	0.0012	0.0200	0.0197	0	2.236e-05	0	0	0	0.0007	2.788e-05	0.0012	0.0208	0.0007	0.0007	0.0004	0.0010	0.0209	0.0006	0.0005	0.0176	0.0164	0	0	0	0	0.0002	0	0	1.47e-05	0	0.0209	0.012	0.54683	D	0.028	0.54934	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.43	0.56772	T	-0.96	0.25551	N	0.702	0.71765	.	.	.	.	.	.	.	0.07752633	0.12245	T	.	.	.	.	.	.	.	.	.	0.923937770568121	0.92370	.	.	.	.	.	0.100106	0.40556	T	.	.	.	.	.	.	.	.	.	0.861914	0.55630	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.246	0.48029	B	.;.	.;.	4.188942	0.63122	24.5	.	.	.	.	.	.	0.389917	0.46895	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.011000	0.40542	5.944000	0.51530	0.599000	0.40250	0.997000	0.40164	1.000000	0.68203	0.911000	0.44643	.	.	.	.	.	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1841.98	34	chr1	145872067	.	C	A	1841.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-8.070e-01;DP=840;ExcessHet=0.0000;FS=4.062;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.45;ReadPosRankSum=-6.840e-01;SOR=0.436	GT:AD:DP:GQ:PL	0/1:61,76:137:99:1856,0,1447	20	0	1	0
chr1	145872713	145872713	C	G	exonic	ANKRD35	.	nonsynonymous SNV	ANKRD35:NM_001280799:exon8:c.G1786C:p.A596P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.843e-07	6.635e-05	0	1.376e-06	8.997e-07	0	0	.	.	0	0	0	0	0	0	8.997e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	0.39575	D	0.122	0.35710	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.28	0.59037	T	-1.95	0.45222	N	0.526	0.55540	.	.	.	.	.	.	.	0.42498738	0.57114	T	.	.	.	.	.	.	.	.	.	0.8187195895967326	0.81828	.	.	.	.	.	0.082225	0.36779	T	.	.	.	.	.	.	.	.	.	0.812719	0.46458	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.743	0.77826	P	.;.	.;.	3.961182	0.58095	23.9	.	.	.	.	.	.	0.492730	0.52925	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.132000	0.41706	4.040000	0.41416	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.984000	0.60418	.	.	.	.	.	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.381	2354.68	101	chr1	145872713	.	C	G	2354.68	.	AC=16;AF=0.381;AN=42;BaseQRankSum=-3.628e+00;DP=2761;ExcessHet=20.9642;FS=143.279;InbreedingCoeff=-0.5874;MLEAC=15;MLEAF=0.357;MQ=60.00;MQRankSum=0.00;QD=1.11;ReadPosRankSum=0.894;SOR=12.457	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:114,27:141:99:0|1:145872713_C_G:162,0,3882:145872713	5	0	16	0
chr1	145872714	145872714	C	G	exonic	ANKRD35	.	nonsynonymous SNV	ANKRD35:NM_001280799:exon8:c.G1785C:p.E595D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	0.56456	D	0.069	0.43913	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.39	0.57419	T	-1.48	0.36189	N	0.138	0.13626	.	.	.	.	.	.	.	0.13870499	0.26377	T	.	.	.	.	.	.	.	.	.	0.4799690801717402	0.47916	.	.	.	.	.	0.054385	0.29709	T	.	.	.	.	.	.	.	.	.	0.768923	0.39853	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.180	0.42763	B	.;.	.;.	3.406129	0.47225	22.4	.	.	.	.	.	.	0.196541	0.32351	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.344000	0.19703	1.359000	0.25866	0.599000	0.40250	0.998000	0.41325	1.000000	0.68203	0.977000	0.56843	.	.	.	.	.	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.35	2100.21	101	chr1	145872714	.	C	G	2100.21	.	AC=14;AF=0.350;AN=40;BaseQRankSum=-4.135e+00;DP=2664;ExcessHet=14.4320;FS=138.726;InbreedingCoeff=-0.4963;MLEAC=14;MLEAF=0.350;MQ=60.00;MQRankSum=0.00;QD=1.14;ReadPosRankSum=0.919;SOR=11.988	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:114,27:141:99:0|1:145872713_C_G:162,0,3882:145872713	6	0	14	1
chr1	146971310	146971310	G	C	exonic	NBPF12	.	nonsynonymous SNV	NBPF12:NM_001278141:exon16:c.G1507C:p.E503Q,	.	.	424	1097	1	0	0	1	0.000455581	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	T	.	.	.	.	.	.	1.000	N	.	.	2.94	T	-0.938	T	0.008	T	0.113	1.505	10.98	-0.857	-0.819	0.143	2.362	0.061	0.000609193748879	.	.	.	.	.	.	.	.	.	.	.	.	.	rs782445068	0.0002	0.0002	0.0002	0.0002	0.0007	0.0002	0.0001	0.0002	0.0002	6.011e-05	0.0002	0.0001	0	0	0.0007	0.0002	0.0002	8.118e-05	9.282e-05	9.206e-05	0.0001	8.151e-05	0.0001	5.576e-05	4.402e-05	3.764e-05	2.576e-05	9.891e-05	0	0.0001	0	0	0	0	8.826e-05	0.0010	0	.	.	.	0.068	0.54541	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.109	0.14480	-0.9382	0.42900	T	0.008	0.02801	T	6	0.0598222	0.07250	T	6.09E-4	0.00289	T	.	.	.	.	0.0986583533028	0.09354	0.024901514381380482	0.02441	.	.	.	.	.	.	.	.	-0.171416	0.25019	T	-0.484003	0.24022	T	0.214030330941298	0.21161	T	0.943106	0.81346	D	0.043882176	0.06918	0.044744294	0.05865	0.043882176	0.06917	0.044744294	0.05865	-8.691	0.65687	D	.	.	0.179	0.39898	B	.;.;.;.;.	.;.;.;.;.	0.846900	0.12187	8.735	0.97849799708459029	0.36385	0.00123	0.00769	N	AEFI	0.014894	0.00257	N	-0.873489026298623	0.11476	0.5540041	-1.12442365652018	0.07236	0.3511928	1.9295087355931E-6	0.01202	0.693126	0.56070	0	0.659464	0.62310	0	0.653264	0.51672	0	0.668105	0.65232	0	.	.	0.971	-0.857	0.10151	0.719000	0.25552	-3.057000	0.03100	0.162000	0.17723	0.037000	0.20830	0.000000	0.08366	0.009000	0.08673	0.0:0.3203:0.2944:0.3853	2.362	0.04046	732	0.54084	Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain;Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain;Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain;Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain;Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	3777.98	42	chr1	146971310	.	G	C	3777.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=4.03;DP=1062;ExcessHet=0.0000;FS=2.445;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=55.35;MQRankSum=-1.760e-01;QD=12.23;ReadPosRankSum=0.696;SOR=0.649	GT:AD:DP:GQ:PL	0/1:166,143:309:99:3792,0,3836	20	0	1	0
chr1	149075685	149075685	C	A	exonic	NBPF9	.	nonsynonymous SNV	NBPF9:NM_001037675:exon7:c.G958T:p.G320C	.	.	409	361	749	3	0	755	0.511171	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.39	T	.	.	.	.	.	.	1.000	N	.	.	4.24	T	-0.912	T	0.002	T	0.328	-0.960	0.324	0.43	-1.589	-0.069	.	0.049	.	.	.	5.909e-05	0	0	0	0	0	0	0.0004	3.84e-05	1	26028	rs1385733241	9.61e-06	5.749e-05	1.23e-05	6.897e-06	2.519e-05	5.58e-06	4.36e-06	4.56e-06	3.33e-06	0	0	3.836e-05	2.519e-05	0	0	9.021e-06	3.323e-05	0	1.317e-05	3.942e-05	2.575e-05	0	2.946e-05	2.19e-06	8.2e-07	4.89e-06	1.83e-06	0	0	0	0	0	0	0	2.946e-05	0	0	.	.	.	0.365	0.36765	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.196	0.21580	.	.	.	.	.	.	.	0.12383446	0.23512	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.811819	0.46320	T	.	.	.	.	.	.	.	.	-4.7	0.44930	T	.	.	0.071	0.39220	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	0.560151	0.09286	6.069	.	.	.	.	.	.	0.017031	0.00420	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.056000	0.11744	0.032000	0.13746	-1.437000	0.01108	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	.	.	.	889	0.27310	.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.4762	30341.43	581	chr1	149075685	.	C	A	30341.43	.	AC=20;AF=0.476;AN=42;BaseQRankSum=1.56;DP=9689;ExcessHet=43.6797;FS=6.799;InbreedingCoeff=-0.9091;MLEAC=20;MLEAF=0.476;MQ=47.24;MQRankSum=-6.707e+00;QD=3.24;ReadPosRankSum=-1.735e+00;SOR=1.328	GT:AD:DP:GQ:PL	0/1:383,106:489:99:1693,0,10305	1	0	20	0
chr1	149476000	149476000	C	A	exonic	NBPF19	.	nonsynonymous SNV	NBPF19:NM_001351365:exon1:c.C68A:p.T23K,	.	.	439	1070	13	0	0	13	0.00603809	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.914e-06	0.0001	6.637e-06	3.234e-06	3.197e-05	1.77e-06	1.16e-06	1.05e-06	7.1e-07	3.197e-05	2.263e-05	0	0	0	0	4.47e-06	0	0	0.0002	0.0020	0.0001	0.0002	0.0005	0.0001	0.0001	0.0001	9.567e-05	4.942e-05	0	6.976e-05	0.0012	0.0004	0.0001	0	0.0002	0	0.0005	.	.	.	0.238	0.24549	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.136	0.15046	-0.9732	0.36518	T	0.000	0.00152	T	7	0.041458398	0.02803	T	2.1E-4	0.00005	T	.	.	.	.	0.0138822411134	0.00435	.	.	.	.	.	.	.	0.001534	0.00977	T	-0.258436	0.13083	T	-0.609002	0.12066	T	0.0377450288243948	0.03287	T	0.49745	0.15470	T	0.038046084	0.04993	0.06475348	0.13026	0.038046084	0.04992	0.06475348	0.13026	-1.143	0.01172	T	.	.	0.050	0.00130	B	.;.;.	.;.;.	-0.436196	0.02080	0.193	0.30157414338663457	0.01635	0.00027	0.00265	N	AEFDBHCIJ	.	.	.	-1.71877720489443	0.00777	0.03357492	-1.76073307947	0.00893	0.03994536	0.999999413893899	0.74766	0.675202	0.55065	0	0.008208	0.00037	3	0.691665	0.62940	0	0.756233	0.99697	0	.	.	1.21	-0.139	0.12803	-0.024000	0.12382	-0.148000	0.11448	-0.613000	0.04580	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.416:0.2945:0.0:0.2895	2.171	0.03615	.	.	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.1429	676.01	33	chr1	149476000	.	C	A	676.01	.	AC=6;AF=0.143;AN=42;BaseQRankSum=5.27;DP=1964;ExcessHet=1.7912;FS=25.359;InbreedingCoeff=-0.1663;MLEAC=6;MLEAF=0.143;MQ=33.27;MQRankSum=-4.079e+00;QD=0.61;ReadPosRankSum=-3.831e+00;SOR=4.477	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:200,17:217:99:0|1:149475995_C_T:112,0,8243:149475995	15	0	6	0
chr1	149476006	149476006	G	A	exonic	NBPF19	.	nonsynonymous SNV	NBPF19:NM_001351365:exon1:c.G74A:p.R25H,	.	.	440	1066	16	0	0	16	0.00744879	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1450463980	0.0016	0.0064	0.0017	0.0015	0.0019	0.0016	0.0016	0.0018	0.0018	0.0005	0.0005	0.0016	0.0009	0.0014	0.0015	0.0019	0.0015	0.0006	0.0005	0.0024	0.0004	0.0005	0.0004	0.0004	0.0003	0.0003	0.0003	0.0004	0	0.0003	0.0009	0.0002	0.0014	0	0.0004	0	0.0002	.	.	.	0.012	0.63918	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.126	0.11912	-0.9534	0.40380	T	0.005	0.01578	T	9	0.034075946	0.01603	T	5.6E-4	0.00221	T	.	.	.	.	0.0138822411134	0.00435	.	.	.	.	.	.	.	0.015807	0.13185	T	-0.346532	0.04948	T	-0.735546	0.04081	T	0.0515061975916717	0.05762	T	0.772023	0.40277	T	0.024656914	0.01319	0.043804567	0.05533	0.024656914	0.01319	0.043804567	0.05532	-6.957	0.53720	T	.	.	0.096	0.15160	B	.;.;.	.;.;.	0.628899	0.09975	6.729	0.91245755014531849	0.20504	0.00546	0.02508	N	AEFDBHCIJ	.	.	.	-1.10416153052003	0.06569	0.3027576	-1.28977332957077	0.04568	0.2157507	0.999999577828503	0.74766	0.675202	0.55065	0	0.67197	0.64623	0	0.691665	0.62940	0	0.756233	0.99697	0	.	.	1.06	-1.67	0.07798	-1.475000	0.02441	-15.955000	0.00333	-0.714000	0.03913	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.413:0.0:0.587:0.0	4.485	0.11196	.	.	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.1429	1239.33	33	chr1	149476006	.	G	A	1239.33	.	AC=6;AF=0.143;AN=42;BaseQRankSum=4.74;DP=2230;ExcessHet=1.7912;FS=23.772;InbreedingCoeff=-0.1703;MLEAC=6;MLEAF=0.143;MQ=33.76;MQRankSum=-3.934e+00;QD=1.06;ReadPosRankSum=-4.403e+00;SOR=3.764	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:208,20:228:99:0|1:149475995_C_T:174,0,8420:149475995	15	0	6	0
chr1	150262565	150262565	T	G	exonic	CA14	.	nonsynonymous SNV	CA14:NM_012113:exon5:c.T440G:p.L147W,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	1.0	D	0.976	D	0.004	N	1.000	D	2.945	M	-0.39	T	0.081	D	0.475	T	0.487	4.729	26.3	5.95	2.272	2.994	14.359	0.420	0.0481751921927	.	.	.	.	.	.	.	.	.	.	.	.	.	rs868955467	4.789e-06	4.788e-06	2.723e-06	6.875e-06	0.0002	1.99e-06	1.28e-06	2.194e-05	1.43e-05	0	0	0	0	0	0.0002	0	1.656e-05	5.797e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.012	0.54683	D	0.014	0.62352	D	1.0	0.90584	D	0.976	0.73562	D	0.003748	0.34535	N	0.293803	0.999899	0.50595	D	3.525	0.93020	H	-0.39	0.69158	T	-3.2	0.64710	D	0.488	0.52208	0.081	0.83822	D	0.475	0.79836	T	10	0.7189653	0.73534	D	0.048175	0.63255	D	0.420	0.72930	0.496	0.58520	0.925177436645	0.92441	0.8300693181544953	0.82965	0.834932950729	0.67778	0.391995221376	0.23950	T	0.408955	0.76413	T	0.0695769	0.60799	D	-0.137834	0.60305	T	0.963766038417816	0.66755	D	0.672833	0.28129	T	0.39998445	0.60731	0.4148782	0.65618	0.39998445	0.60732	0.4148782	0.65618	-11.534	0.82507	D	.	.	0.323	0.54703	B	.;.	.;.	4.715397	0.75797	26.4	0.96132293750471565	0.28808	0.68790	0.33936	D	AEFDBCIJ	0.801215	0.72698	D	0.591802258892779	0.72664	5.841212	0.510685499338433	0.68709	5.257519	0.999999999998696	0.74766	0.67177	0.52595	0	0.694456	0.67091	0	0.702456	0.68683	0	0.666353	0.64628	0	.	.	5.95	5.95	0.96415	5.711000	0.68052	5.053000	0.47016	0.665000	0.62972	0.901000	0.31451	1.000000	0.68203	0.981000	0.58702	0.0:0.0:0.0:1.0	14.359	0.66320	115	0.95340	Alpha carbonic anhydrase domain|Alpha carbonic anhydrase domain|Alpha carbonic anhydrase domain;Alpha carbonic anhydrase domain|Alpha carbonic anhydrase domain|Alpha carbonic anhydrase domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1695.98	34	chr1	150262565	.	T	G	1695.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.75;DP=859;ExcessHet=0.0000;FS=0.600;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.08;ReadPosRankSum=1.98;SOR=0.760	GT:AD:DP:GQ:PL	0/1:87,66:153:99:1710,0,2231	20	0	1	0
chr1	153760378	153760378	C	G	exonic	INTS3	.	nonsynonymous SNV	INTS3:NM_023015:exon12:c.C1305G:p.D435E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.15	T	0.992	D	0.986	D	0.000	D	0.999	D	1.31	L	.	.	-0.865	T	0.172	T	0.819	4.131	21.3	2.28	0.340	1.167	8.751	0.557	0.0101042060593	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.109e-06	3.763e-05	5.452e-06	2.753e-06	5.404e-06	1.48e-06	9.7e-07	1.94e-06	1.28e-06	0	0	0	0	0	0	5.404e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.096	0.39340	T	0.99	0.63424	D	0.971	0.76916	D	0.000000	0.84330	D	0.000000	0.999453	0.47118	D	.	.	.	.	.	.	-3.57	0.68999	D	0.889	0.88798	-0.8647	0.50922	T	0.172	0.51484	T	9	0.8319566	0.82357	D	0.010104	0.26235	T	0.557	0.81774	.	.	0.721551216883	0.71909	0.6563577712550202	0.65571	2.15008403777	0.95306	0.843462109566	0.88622	D	.	.	.	0.223	0.76021	D	0.0819729	0.75709	D	0.98498809337616	0.76116	D	.	.	.	.	.	.	.	.	.	.	.	-3.456	0.16153	T	.	.	0.998	0.97160	P	.;.;.	.;.;.	3.646224	0.51727	23.1	0.99633933635678729	0.76203	0.93226	0.57654	D	AEFBI	0.403545	0.47719	N	0.0683850253580956	0.44993	2.763348	0.0345004263229141	0.41329	2.481153	0.733851878871199	0.23096	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.13	2.28	0.27583	0.899000	0.28049	2.750000	0.34528	-0.171000	0.11205	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:0.7504:0.0:0.2496	8.751	0.33774	123	0.95099	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.3571	2593.87	40	chr1	153760378	.	C	G	2593.87	.	AC=15;AF=0.357;AN=42;BaseQRankSum=-2.650e+00;DP=2714;ExcessHet=17.4423;FS=282.183;InbreedingCoeff=-0.5203;MLEAC=14;MLEAF=0.333;MQ=60.00;MQRankSum=0.00;QD=1.34;ReadPosRankSum=0.949;SOR=11.919	GT:AD:DP:GQ:PL	0/1:78,52:139:99:339,0,928	6	0	15	0
chr1	154869726	154869726	-	GCTGCTGCTGCT	exonic	KCNN3	.	nonframeshift insertion	KCNN3:NM_001204087:exon1:c.238_239insAGCAGCAGCAGC:p.Q80_P81insQQQQ	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6905	42143.75	48	chr1	154869723	.	GGCT	GGCTGCTGCTGCTGCT,GGCTGCTGCTGCTGCTGCT,GGCTGCTGCTGCTGCTGCTGCT,GGCTGCTGCTGCT,GGCTGCTGCTGCTGCTGCTGCTGCT,G	42143.75	.	AC=8,17,5,9,1,1;AF=0.190,0.405,0.119,0.214,0.024,0.024;AN=42;BaseQRankSum=-4.750e-01;DP=1935;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=8,17,5,9,1,1;MLEAF=0.190,0.405,0.119,0.214,0.024,0.024;MQ=59.98;MQRankSum=0.00;QD=31.26;ReadPosRankSum=-6.440e-01;SOR=0.763	GT:AD:DP:GQ:PL	1/3:0,17,3,22,0,0,0:42:99:2162,1057,969,1320,679,1187,743,0,511,640,1772,1022,1299,714,1736,1772,1022,1299,714,1736,1736,1772,1022,1299,714,1736,1736,1736	0	1	0	0
chr1	154869726	154869726	-	GCTGCTGCTGCTGCT	exonic	KCNN3	.	nonframeshift insertion	KCNN3:NM_001204087:exon1:c.238_239insAGCAGCAGCAGCAGC:p.Q80_P81insQQQQQ	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs746397332	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6905	42143.75	48	chr1	154869723	.	GGCT	GGCTGCTGCTGCTGCT,GGCTGCTGCTGCTGCTGCT,GGCTGCTGCTGCTGCTGCTGCT,GGCTGCTGCTGCT,GGCTGCTGCTGCTGCTGCTGCTGCT,G	42143.75	.	AC=8,17,5,9,1,1;AF=0.190,0.405,0.119,0.214,0.024,0.024;AN=42;BaseQRankSum=-4.750e-01;DP=1935;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=8,17,5,9,1,1;MLEAF=0.190,0.405,0.119,0.214,0.024,0.024;MQ=59.98;MQRankSum=0.00;QD=31.26;ReadPosRankSum=-6.440e-01;SOR=0.763	GT:AD:DP:GQ:PL	1/3:0,17,3,22,0,0,0:42:99:2162,1057,969,1320,679,1187,743,0,511,640,1772,1022,1299,714,1736,1772,1022,1299,714,1736,1736,1772,1022,1299,714,1736,1736,1736	0	1	0	0
chr1	154869726	154869726	-	GCTGCTGCTGCTGCTGCT	exonic	KCNN3	.	nonframeshift insertion	KCNN3:NM_001204087:exon1:c.238_239insAGCAGCAGCAGCAGCAGC:p.Q80_P81insQQQQQQ	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6905	42143.75	48	chr1	154869723	.	GGCT	GGCTGCTGCTGCTGCT,GGCTGCTGCTGCTGCTGCT,GGCTGCTGCTGCTGCTGCTGCT,GGCTGCTGCTGCT,GGCTGCTGCTGCTGCTGCTGCTGCT,G	42143.75	.	AC=8,17,5,9,1,1;AF=0.190,0.405,0.119,0.214,0.024,0.024;AN=42;BaseQRankSum=-4.750e-01;DP=1935;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=8,17,5,9,1,1;MLEAF=0.190,0.405,0.119,0.214,0.024,0.024;MQ=59.98;MQRankSum=0.00;QD=31.26;ReadPosRankSum=-6.440e-01;SOR=0.763	GT:AD:DP:GQ:PL	1/3:0,17,3,22,0,0,0:42:99:2162,1057,969,1320,679,1187,743,0,511,640,1772,1022,1299,714,1736,1772,1022,1299,714,1736,1736,1772,1022,1299,714,1736,1736,1736	0	1	0	0
chr1	154869726	154869726	-	GCTGCTGCT	exonic	KCNN3	.	nonframeshift insertion	KCNN3:NM_001204087:exon1:c.238_239insAGCAGCAGC:p.Q80_P81insQQQ	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6905	42143.75	48	chr1	154869723	.	GGCT	GGCTGCTGCTGCTGCT,GGCTGCTGCTGCTGCTGCT,GGCTGCTGCTGCTGCTGCTGCT,GGCTGCTGCTGCT,GGCTGCTGCTGCTGCTGCTGCTGCT,G	42143.75	.	AC=8,17,5,9,1,1;AF=0.190,0.405,0.119,0.214,0.024,0.024;AN=42;BaseQRankSum=-4.750e-01;DP=1935;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=8,17,5,9,1,1;MLEAF=0.190,0.405,0.119,0.214,0.024,0.024;MQ=59.98;MQRankSum=0.00;QD=31.26;ReadPosRankSum=-6.440e-01;SOR=0.763	GT:AD:DP:GQ:PL	1/3:0,17,3,22,0,0,0:42:99:2162,1057,969,1320,679,1187,743,0,511,640,1772,1022,1299,714,1736,1772,1022,1299,714,1736,1736,1772,1022,1299,714,1736,1736,1736	0	1	0	0
chr1	154869726	154869726	-	GCTGCTGCTGCTGCTGCTGCT	exonic	KCNN3	.	nonframeshift insertion	KCNN3:NM_001204087:exon1:c.238_239insAGCAGCAGCAGCAGCAGCAGC:p.Q80_P81insQQQQQQQ	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6905	42143.75	48	chr1	154869723	.	GGCT	GGCTGCTGCTGCTGCT,GGCTGCTGCTGCTGCTGCT,GGCTGCTGCTGCTGCTGCTGCT,GGCTGCTGCTGCT,GGCTGCTGCTGCTGCTGCTGCTGCT,G	42143.75	.	AC=8,17,5,9,1,1;AF=0.190,0.405,0.119,0.214,0.024,0.024;AN=42;BaseQRankSum=-4.750e-01;DP=1935;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=8,17,5,9,1,1;MLEAF=0.190,0.405,0.119,0.214,0.024,0.024;MQ=59.98;MQRankSum=0.00;QD=31.26;ReadPosRankSum=-6.440e-01;SOR=0.763	GT:AD:DP:GQ:PL	1/3:0,17,3,22,0,0,0:42:99:2162,1057,969,1320,679,1187,743,0,511,640,1772,1022,1299,714,1736,1772,1022,1299,714,1736,1736,1772,1022,1299,714,1736,1736,1736	0	1	0	0
chr1	155250323	155250323	A	G	exonic	FAM189B	.	nonsynonymous SNV	FAM189B:NM_198264:exon6:c.T1175C:p.L392P	.	.	423	1059	38	2	0	42	0.0194444	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	1.0	D	0.998	D	0.000	D	1.000	D	0	N	3.82	T	-0.779	T	0.009	T	0.668	4.104	21.1	4.21	1.917	2.601	11.607	0.146	.	0.0018	0.00658946	0.0203	0.0005	0.0063	0	0	0.0110	0	0.0350	0.0029819	461	154602	rs142630415	0.0050	0.0048	0.0040	0.0060	0.0323	0.0049	0.0048	0.0313	0.0309	0.0007	0.0017	0.0243	2.824e-05	0.0010	0.0130	0.0030	0.0057	0.0323	0.0037	0.0037	0.0033	0.0041	0.0326	0.0034	0.0033	0.0285	0.0269	0.0007	0.0275	0.0020	0.0261	0	0.0009	0	0.0031	0.0043	0.0326	0.027	0.46513	D	0.014	0.63918	D	0.997	0.70673	D	0.991	0.79672	D	0.000286	0.46274	D	0.000000	0.999995	0.58761	D	0.975	0.24501	L	3.82	0.03728	T	-0.11	0.15178	N	0.488	0.57433	-0.7789	0.56364	T	0.009	0.03448	T	10	0.0054880977	0.00121	T	.	.	.	0.146	0.38789	.	.	0.242244723065	0.23846	0.7644931943960813	0.76397	3.96447962958	0.99874	0.803799211979	0.82543	D	0.015217	0.12804	T	-0.380399	0.03098	T	-0.294818	0.45268	T	0.0244990517566369	0.01208	T	.	.	.	0.17293428	0.38012	0.25629476	0.51326	0.17293428	0.38011	0.25629476	0.51325	-3.986	0.24802	T	.	.	0.217	0.44643	B	.;.;.	.;.;.	4.672397	0.74688	26.2	0.99891294729488611	0.96513	0.76327	0.37426	D	AEFDBCI	0.499244	0.53301	N	0.323016245965236	0.57332	3.900123	0.341837613117233	0.58017	3.970009	0.999999994130709	0.74766	0.706548	0.73137	0	0.52208	0.09955	0	0.581341	0.30212	0	0.714379	0.83352	0	.	.	4.21	4.21	0.48984	2.412000	0.44263	8.974000	0.78479	0.750000	0.87069	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	1.0:0.0:0.0:0.0	11.607	0.50292	41	0.97903	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	867.11	30	chr1	155250323	.	A	G	867.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-1.820e-01;DP=717;ExcessHet=0.1072;FS=0.890;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=11.56;ReadPosRankSum=-2.590e-01;SOR=0.556	GT:AD:DP:GQ:PL	0/1:18,20:38:99:491,0,421	19	0	2	0
chr1	156011822	156011822	G	C	exonic	SSR2	.	nonsynonymous SNV	SSR2:NM_003145:exon5:c.C429G:p.F143L,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	T	0.984	D	0.87	P	0.000	D	1.000	D	2.555	M	.	.	-0.257	T	0.378	T	0.881	2.778	15.25	5.55	2.894	4.402	17.055	0.184	0.18042830021	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	6.568e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.008	0.91255	D	0.031	0.55341	D	0.984	0.60733	D	0.87	0.61806	P	0.000000	0.84330	D	0.000000	1	0.81001	D	2.79	0.81396	M	.	.	.	-5.39	0.85994	D	0.84	0.83576	-0.2573	0.76161	T	0.378	0.73580	T	9	0.9662193	0.96110	D	0.180428	0.85489	D	0.551	0.81427	0.936	0.99075	0.416446257289	0.41261	0.8283436009707257	0.82792	1.40670516952	0.85333	0.792496502399	0.80822	T	0.534141	0.83931	D	0.416006	0.90809	D	0.359788	0.90695	D	0.99421751499176	0.85377	D	0.939106	0.80601	D	0.76359487	0.81666	0.72925085	0.84003	0.76359487	0.81667	0.72925085	0.84004	-10.5	0.76847	D	.	.	1.000	0.99795	P	.;.;.	.;.;.	5.067605	0.84496	28.3	0.91990689601245867	0.21324	0.98329	0.81685	D	AEFGBI	0.901337	0.84791	D	0.542252554756067	0.69612	5.381701	0.583687799372267	0.73772	6.02523	0.999999999487927	0.74766	0.722319	0.85440	0	0.698795	0.70079	0	0.724815	0.87919	0	0.711	0.71501	0	.	.	5.55	5.55	0.83298	4.832000	0.62449	6.328000	0.55455	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.0:0.0:1.0:0.0	17.055	0.86406	196	0.92420	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.3929	2240.58	53	chr1	156011822	.	G	A,C	2240.58	.	AC=10,1;AF=0.357,0.036;AN=28;BaseQRankSum=-2.019e+00;DP=1509;ExcessHet=7.7275;FS=191.539;InbreedingCoeff=-0.5270;MLEAC=13,1;MLEAF=0.464,0.036;MQ=60.00;MQRankSum=0.00;QD=2.34;ReadPosRankSum=0.481;SOR=10.626	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:78,21,0:99:99:0|1:156011822_G_A:178,0,2282,411,2344,2754:156011822	3	0	10	7
chr1	156055306	156055306	G	C	exonic	LAMTOR2	.	nonsynonymous SNV	LAMTOR2:NM_001145264:exon2:c.G112C:p.G38R	Immunodeficiency due to defect in MAPBP-interacting protein, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.998	D	0.976	D	0.000	D	1.000	D	2.44	M	1.95	T	-0.974	T	0.097	T	0.585	5.265	33	4.79	1.408	9.174	13.594	0.307	0.0480975477347	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.007	0.65419	D	0.045	0.63918	D	0.987	0.61912	D	0.959	0.70163	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.48	0.72069	M	1.95	0.22474	T	-4.24	0.79915	D	0.894	0.90025	-0.9744	0.36257	T	0.097	0.36522	T	10	0.822157	0.81413	D	0.048098	0.63219	D	0.307	0.62838	0.583	0.70990	0.447311733946	0.44353	0.8220067630651932	0.82157	2.38469603296	0.97034	0.938504099846	0.99398	D	0.243573	0.61253	T	-0.00131126	0.51474	T	-0.23966	0.50832	T	0.997294843196869	0.91218	D	0.965303	0.87759	D	0.8305876	0.85943	0.7516628	0.85322	0.8305876	0.85944	0.7516628	0.85322	-7.24	0.57815	T	.	.	0.952	0.87755	P	.;.;.	.;.;.	4.583486	0.72430	25.8	0.99907690349823841	0.97801	0.95012	0.63118	D	AEFDGBCI	0.965126	0.98738	D	0.804937273357267	0.86414	8.877847	0.767081267082154	0.87429	9.218367	0.999999999999234	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	5.7	4.79	0.60909	9.327000	0.96404	11.718000	0.94767	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0755:0.0:0.9245:0.0	13.594	0.61444	318	0.87072	Roadblock/LAMTOR2 domain|Roadblock/LAMTOR2 domain;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1071.98	36	chr1	156055306	.	G	C	1071.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.710;DP=865;ExcessHet=0.0000;FS=2.421;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.08;ReadPosRankSum=-1.334e+00;SOR=0.487	GT:AD:DP:GQ:PL	0/1:70,48:118:99:1086,0,1667	20	0	1	0
chr1	156154585	156154585	C	G	exonic	SEMA4A	.	nonsynonymous SNV	SEMA4A:NM_001370567:exon1:c.C7G:p.L3V	Cone-rod dystrophy 10, Autosomal recessive;Retinitis pigmentosa 35, Autosomal recessive, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.455	P	0.078	B	0.157	N	1.000	D	0.895	L	2.27	T	-1.055	T	0.018	T	0.204	2.510	14.35	3.5	1.962	1.495	10.715	0.040	0.0138260769145	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.859e-07	6.84e-07	1.365e-06	0	.	0	0	.	.	0	0	0	0	0	0	0	1.66e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.016	0.51853	D	0.0	0.92824	D	0.455	0.36245	P	0.078	0.28627	B	0.156885	0.17786	N	0.309128	1	0.81001	D	1.845	0.48678	L	2.07	0.20387	T	-0.42	0.14193	N	0.296	0.34659	-1.0550	0.13040	T	0.018	0.07329	T	10	0.109891176	0.20517	T	0.013826	0.33526	T	0.040	0.10527	0.209	0.12639	0.117191471859	0.11215	0.503710357357518	0.50293	0.318762690208	0.34097	0.421195149422	0.28001	T	0.055648	0.30064	T	-0.198052	0.21087	T	-0.522264	0.20066	T	0.301659911870956	0.25072	T	0.654634	0.26482	T	0.09972038	0.23538	0.082035966	0.18692	0.09972038	0.23537	0.082035966	0.18691	-3.784	0.20566	T	.	.	0.072	0.11797	B	.;.;.;.;.;.	.;.;.;.;.;.	2.644651	0.34418	19.62	0.99341776668497139	0.60210	0.69503	0.34213	D	ALL	0.220103	0.34490	N	-0.137893723744803	0.35751	2.057534	-0.0551820545162138	0.37265	2.179696	0.9999999973899	0.74766	0.653281	0.48532	0	0.52208	0.09955	0	0.675528	0.61593	0	0.613276	0.41899	0	.	.	3.5	3.5	0.39181	1.663000	0.37045	0.937000	0.22823	0.549000	0.26987	0.681000	0.28448	0.968000	0.29604	0.997000	0.79791	0.0:1.0:0.0:0.0	10.715	0.45204	489	0.76795	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	803.98	39	chr1	156154585	.	C	G	803.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.300e-01;DP=779;ExcessHet=0.0000;FS=2.992;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.18;ReadPosRankSum=-9.270e-01;SOR=0.600	GT:AD:DP:GQ:PL	0/1:39,40:79:99:818,0,849	20	0	1	0
chr1	156244810	156244810	G	A	exonic	PAQR6	.	nonsynonymous SNV	PAQR6:NM_001272109:exon4:c.C44T:p.S15L	.	.	404	1060	53	5	0	63	0.0288594	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0078	0.00539137	0.0075	0.0028	0.0040	0.0013	0.0013	0.0082	0.0103	0.0155	0.007115	1100	154602	rs62001925	0.0076	0.0076	0.0073	0.0079	0.0232	0.0075	0.0074	0.0200	0.0188	0.0018	0.0053	0.0135	0.0006	0.0010	0.0232	0.0074	0.0097	0.0160	0.0060	0.0060	0.0060	0.0059	0.0170	0.0057	0.0055	0.0140	0.0129	0.0023	0.0230	0.0070	0.0115	0.0017	0.0006	0.0340	0.0076	0.0114	0.0170	.	.	.	.	.	.	0.083	0.24734	B	0.017	0.18140	B	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.137	0.13484	.	.	.	.	.	.	.	0.0033493936	0.00058	T	.	.	.	.	.	.	.	0.458101713262	0.45433	.	.	.	.	.	.	.	0.00487	0.04291	T	-0.438103	0.01327	T	-0.389108	0.34655	T	.	.	.	0.320168	0.06459	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.348	0.56442	A	.;.;.	.;.;.	1.484603	0.19108	14.09	0.89943610925400397	0.19240	0.35978	0.25427	N	AEFDGBCI	0.008851	0.00045	N	.	.	.	.	.	.	0.999988333354985	0.51787	0.634777	0.41761	0	0.643519	0.57511	0	0.606735	0.37207	0	0.664235	0.64389	0	.	.	4.88	-1.29	0.08805	0.152000	0.16120	-0.014000	0.13018	-0.667000	0.04321	0.974000	0.34632	0.019000	0.20708	0.966000	0.53164	0.6058:0.0:0.3942:0.0	9.663	0.39134	293	0.88320	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.07143	2933.68	67	chr1	156244810	.	G	A	2933.68	.	AC=3;AF=0.071;AN=42;BaseQRankSum=0.647;DP=892;ExcessHet=0.3300;FS=6.828;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=11.24;ReadPosRankSum=0.778;SOR=0.413	GT:AD:DP:GQ:PL	0/1:55,35:90:99:844,0,1373	18	0	3	0
chr1	156244850	156244850	C	A	exonic	PAQR6	.	nonsynonymous SNV	PAQR6:NM_001272109:exon4:c.G4T:p.A2S	.	.	411	1053	53	5	0	63	0.0290456	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.53	T	0.019	B	0.054	B	0.034	N	1.000	D	0	N	1.83	T	-1.005	T	0.011	T	0.389	0.846	8.419	2.7	0.539	0.024	7.627	0.052	.	0.0077	0.00539137	0.0075	0.0027	0.0041	0.0013	0.0013	0.0081	0.0104	0.0155	0.007031	1087	154602	rs34514408	0.0075	0.0075	0.0072	0.0078	0.0231	0.0074	0.0074	0.0199	0.0187	0.0018	0.0053	0.0135	0.0006	0.0010	0.0231	0.0073	0.0096	0.0160	0.0060	0.0060	0.0060	0.0059	0.0170	0.0057	0.0055	0.0140	0.0129	0.0023	0.0230	0.0070	0.0115	0.0015	0.0006	0.0340	0.0076	0.0114	0.0170	0.167	0.23095	T	0.492	0.11479	T	0.019	0.17989	B	0.054	0.25828	B	0.033899	0.24840	N	0.457104	0.999514	0.47363	D	0.55	0.14455	N	1.83	0.24841	T	-0.68	0.21860	N	0.204	0.22614	-1.0048	0.28517	T	0.011	0.04227	T	10	0.003630519	0.00066	T	.	.	.	0.052	0.14661	.	.	0.0482279557977	0.04254	0.32600190541541246	0.32513	0.334413534742	0.35461	0.279182732105	0.07379	T	0.007823	0.07202	T	-0.421076	0.01683	T	-0.364649	0.37514	T	0.00801896257458957	0.00095	T	0.876612	0.58915	D	0.11884558	0.27995	0.081639044	0.18570	0.11884558	0.27994	0.081639044	0.18570	-3.89	0.22152	T	.	.	0.261	0.49548	B	.;.;.;.	.;.;.;.	0.764935	0.11347	7.965	0.85823210976325426	0.16135	0.26439	0.22993	N	AEFDGBHCI	0.240262	0.36208	N	-0.82651249844731	0.12635	0.6171331	-0.711710759728758	0.16670	0.8829094	0.999997013756232	0.74766	0.634777	0.41761	0	0.643519	0.57511	0	0.606735	0.37207	0	0.664235	0.64389	0	.	.	4.64	2.7	0.31007	-0.096000	0.11027	-0.102000	0.11930	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.840000	0.39645	0.0:0.5923:0.3213:0.0864	7.627	0.27385	290	0.88477	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.07143	2340.68	47	chr1	156244850	.	C	A	2340.68	.	AC=3;AF=0.071;AN=42;BaseQRankSum=0.571;DP=830;ExcessHet=0.3300;FS=5.220;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=11.82;ReadPosRankSum=-4.030e-01;SOR=0.431	GT:AD:DP:GQ:PL	0/1:35,31:66:99:802,0,909	18	0	3	0
chr1	156266009	156266009	G	A	exonic	SMG5	.	nonsynonymous SNV	SMG5:NM_001323615:exon11:c.C1489T:p.R497W	.	.	424	1041	53	4	0	61	0.0284648	.	.	696155	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.01	D	0.476	P	0.153	B	0.291	N	0.692	N	0	N	1.4	T	-1.048	T	0.026	T	0.227	2.745	15.14	5.51	2.576	2.352	13.027	0.048	.	0.0071	0.00419329	0.0066	0.0016	0.0043	0.0001	0.0012	0.0082	0.0088	0.0102	0.0064035	990	154602	rs34377219	0.0073	0.0073	0.0071	0.0074	0.0224	0.0071	0.0071	0.0192	0.0180	0.0013	0.0055	0.0153	0.0001	0.0010	0.0224	0.0073	0.0092	0.0116	0.0055	0.0056	0.0058	0.0053	0.0118	0.0052	0.0051	0.0094	0.0085	0.0014	0.0220	0.0067	0.0144	0.0002	0.0006	0.0340	0.0076	0.0095	0.0118	0.006	0.61437	D	0.018	0.59732	D	0.476	0.36665	P	0.153	0.34292	B	0.290797	0.14772	N	0.672822	1	0.30179	N	0	0.06538	N	1.4	0.33630	T	-2.03	0.46673	N	0.316	0.35620	-1.0481	0.14932	T	0.026	0.11131	T	10	0.0035678446	0.00064	T	.	.	.	0.048	0.13305	.	.	0.176862962021	0.17281	0.1836607337102502	0.18285	0.413816520075	0.42075	0.314859569073	0.12643	T	0.057437	0.30565	T	-0.512611	0.00485	T	-0.499711	0.22378	T	0.0143363421666053	0.00286	T	0.858514	0.54939	D	0.07342955	0.16406	0.09569561	0.22706	0.07342955	0.16406	0.09569561	0.22705	-6.201	0.47931	T	.	.	0.091	0.13315	B	.	.	4.092404	0.60962	24.3	0.99873603549208556	0.95076	0.77767	0.38276	D	AEFGBCI	0.454368	0.50710	N	0.0271364480227597	0.43090	2.608939	0.194113991504032	0.49524	3.154545	0.999994183624492	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.51	5.51	0.81769	2.468000	0.44759	6.509000	0.55803	0.676000	0.76740	0.969000	0.34210	0.999000	0.35428	0.985000	0.61073	0.0:0.0:0.8388:0.1612	13.027	0.58226	290	0.88477	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.07143	7277.68	165	chr1	156266009	.	G	A	7277.68	.	AC=3;AF=0.071;AN=42;BaseQRankSum=1.41;DP=1184;ExcessHet=0.3300;FS=1.758;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=14.05;ReadPosRankSum=-1.690e-01;SOR=0.561	GT:AD:DP:GQ:PL	0/1:89,98:187:99:2635,0,2131	18	0	3	0
chr1	156851363	156851363	G	T	exonic	INSRR	.	nonsynonymous SNV	INSRR:NM_014215:exon5:c.C1156A:p.H386N,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.988	D	0.907	P	0.000	D	1.000	D	.	.	-1.16	T	0.176	D	0.562	D	0.548	4.550	24.6	5.08	2.642	7.670	17.190	0.632	0.344146353961	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.326e-05	2.326e-05	2.859e-05	1.788e-05	2.987e-05	1.674e-05	1.477e-05	2.082e-05	1.782e-05	2.987e-05	0	0	0	0	0	2.878e-05	1.656e-05	0	6.572e-06	6.567e-06	0	1.345e-05	.	0	0	.	.	0	0	0	0	0	0	0	0	0.0005	0	0.014	0.53172	D	0.016	0.60972	D	0.988	0.62325	D	0.907	0.64423	P	0.000201	0.47681	D	0.000000	1	0.81001	D	2.625	0.76847	M	-1.16	0.78082	T	-2.59	0.55821	D	0.787	0.78356	0.176	0.85510	D	0.562	0.84082	D	9	0.88778234	0.88111	D	0.344146	0.92095	D	0.632	0.85872	0.677	0.81496	0.923485407607	0.92270	0.7745051633529748	0.77400	1.24773453601	0.81730	0.794663488865	0.81151	T	0.630828	0.88556	D	0.084	0.62528	D	-0.116829	0.62062	T	0.989181101322174	0.79436	D	0.808019	0.45805	T	0.3914919	0.60138	0.2797459	0.53945	0.3914919	0.60138	0.2797459	0.53944	-13.387	0.90895	D	.	.	0.792	0.76924	P	.	.	4.159447	0.62453	24.5	0.99309337375613682	0.58943	0.98869	0.87939	D	AEFDBI	0.940415	0.94232	D	0.704694061222128	0.79941	7.185262	0.708818163317979	0.83049	7.92066	0.99999999531591	0.74766	0.497415	0.19182	0	0.59043	0.45803	0	0.563428	0.18855	0	0.631631	0.49550	0	.	.	5.08	5.08	0.68373	6.746000	0.74663	11.708000	0.94607	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	17.190	0.86756	640	0.64132	Receptor L-domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	664.98	33	chr1	156851363	.	G	T	664.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.624;DP=776;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.93;ReadPosRankSum=-8.570e-01;SOR=0.765	GT:AD:DP:GQ:PL	0/1:40,27:67:99:679,0,1028	20	0	1	0
chr1	156881590	156881590	G	A	exonic	NTRK1	.	nonsynonymous SNV	NTRK1:NM_001012331:exon16:c.G2321A:p.R774Q	Insensitivity to pain, congenital, with anhidrosis, Autosomal recessive;Medullary thyroid carcinoma, familial, Autosomal dominant	YES	0	1487	35	0	0	35	0.0116318	.	.	237215	NTRK1-related_disorder|Hereditary_insensitivity_to_pain_with_anhidrosis|not_specified|not_provided	.|MONDO:MONDO:0009746,MedGen:C0020074,OMIM:256800,Orphanet:642|MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.62	T	0.873	P	0.239	B	0.001	D	1.000	N	0.56	N	-1.6	D	-0.934	T	0.138	T	0.488	0.659	7.532	4.1	1.341	0.822	8.581	0.339	.	0.0036	0.00379393	0.0064	0.0015	0.0035	0	0.0019	0.0072	0.0050	0.0126	0.0048512	750	154602	rs35669708	0.0058	0.0058	0.0055	0.0061	0.0117	0.0057	0.0057	0.0111	0.0109	0.0007	0.0027	0.0006	7.571e-05	0.0017	0.0070	0.0062	0.0049	0.0117	0.0043	0.0043	0.0043	0.0044	0.0114	0.0041	0.0039	0.0090	0.0081	0.0010	0	0.0075	0.0009	0	0.0013	0.0136	0.0061	0.0057	0.0114	0.231	0.18308	T	0.445	0.13140	T	0.005	0.47975	B	0.009	0.38566	B	0.000949	0.40932	D	0.109267	1	0.08975	N	0.595	0.15482	N	-1.6	0.82165	D	-1.25	0.31576	N	0.282	0.35408	-0.9340	0.43545	T	0.138	0.45470	T	10	0.012337536	0.00265	T	.	.	.	0.339	0.66106	.	.	0.793816764983	0.79190	0.6476328844921709	0.64698	0.295731434207	0.31975	0.395707249641	0.24471	T	0.56893	0.85694	D	-0.335654	0.05694	T	-0.246959	0.50116	T	0.00731582278162374	0.00084	T	0.819918	0.48580	T	0.24014701	0.46915	0.10897891	0.26259	0.26156637	0.49215	0.09393142	0.22210	-6.265	0.48904	T	0.13459309679898868	0.14554	0.065	0.02313	B	.;.;.;.	.;.;.;.	2.380185	0.30549	18.47	0.94565689527094787	0.25095	0.20513	0.21069	N	AEFDBI	0.241183	0.36284	N	-0.746801634666891	0.14720	0.7356819	-0.73046276975402	0.16204	0.8560722	0.98761279161428	0.31305	0.497415	0.19182	0	0.59043	0.45803	0	0.578056	0.29568	0	0.530356	0.10902	0	.	.	5.01	4.1	0.47196	0.472000	0.21827	1.856000	0.29290	0.676000	0.76740	0.000000	0.06391	0.014000	0.20376	0.137000	0.19835	0.1746:0.0:0.8254:0.0	8.581	0.32790	527	0.73864	.;Serine-threonine/tyrosine-protein kinase, catalytic domain|Protein kinase domain|Tyrosine-protein kinase, catalytic domain;Serine-threonine/tyrosine-protein kinase, catalytic domain|Protein kinase domain|Tyrosine-protein kinase, catalytic domain;Serine-threonine/tyrosine-protein kinase, catalytic domain|Protein kinase domain|Tyrosine-protein kinase, catalytic domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	0.02381	1473.98	33	chr1	156881590	.	G	A	1473.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.41;DP=823;ExcessHet=0.0000;FS=3.160;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.43;ReadPosRankSum=-9.410e-01;SOR=0.465	GT:AD:DP:GQ:PL	0/1:67,62:129:99:1488,0,1556	20	0	1	0
chr1	157586410	157586410	C	A	exonic	FCRL4	.	nonsynonymous SNV	FCRL4:NM_031282:exon6:c.G893T:p.G298V,	.	.	419	1102	1	0	0	1	0.000453515	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.33	T	0.941	P	0.643	P	0.029	N	1.000	N	1.45	L	2.8	T	-0.992	T	0.012	T	0.156	0.988	9.033	1.07	0.101	0.255	4.034	0.043	0.00376030301897	.	.	8.38e-06	0	0	0	0	1.526e-05	0	0	6.5e-06	1	154602	rs542587503	1.917e-05	1.915e-05	1.635e-05	2.203e-05	0.0002	1.33e-05	1.145e-05	7.712e-05	5.305e-05	0.0002	0	0	0	0	0.0002	1.439e-05	8.281e-05	0	3.942e-05	3.937e-05	3.857e-05	4.031e-05	4.816e-05	1.715e-05	1.129e-05	7.98e-06	2.99e-06	4.816e-05	0	0	0	0	0	0.0102	0	0.0005	0	0.028	0.46129	D	0.005	0.72224	D	0.941	0.52883	P	0.643	0.52216	P	0.028978	0.25522	N	0.188533	0.999998	0.08975	N	1.7	0.43825	L	2.8	0.11082	T	-5.18	0.83557	D	0.308	0.34767	-0.9922	0.32037	T	0.012	0.04605	T	10	0.2227442	0.39034	T	0.00376	0.08744	T	0.043	0.11576	0.455	0.51938	0.300449992093	0.29664	0.46663775483884545	0.46582	0.212687478302	0.23774	0.276463627815	0.07005	T	0.088716	0.38219	T	-0.276674	0.11024	T	-0.619713	0.11207	T	0.938715517520905	0.60956	D	0.776522	0.40874	T	0.10881976	0.25728	0.15137793	0.35662	0.10881976	0.25728	0.15137793	0.35661	-7.79	0.59630	D	.	.	0.139	0.30450	B	.	.	1.832745	0.23289	15.96	0.98889247434720839	0.47966	0.04260	0.09791	N	AEFBCI	0.052921	0.09490	N	-0.482214232417951	0.22663	1.211745	-0.674444514842679	0.17601	0.9366303	0.0161683409306581	0.12799	0.549168	0.22868	0	0.627178	0.54094	0	0.573078	0.19857	0	0.564101	0.26826	0	.	.	4.12	1.07	0.19399	0.071000	0.14461	-2.091000	0.04227	0.545000	0.25583	0.000000	0.06391	0.000000	0.08366	0.025000	0.12405	0.0:0.55:0.2127:0.2372	4.034	0.09203	835	0.38313	Immunoglobulin-like domain|Immunoglobulin subtype	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1948.98	34	chr1	157586410	.	C	A	1948.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.080e+00;DP=904;ExcessHet=0.0000;FS=1.106;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.79;ReadPosRankSum=0.385;SOR=0.798	GT:AD:DP:GQ:PL	0/1:110,89:199:99:1963,0,2834	20	0	1	0
chr1	160881956	160881956	C	T	splicing	ITLN1	NM_017625:exon4:c.405+1G>A	.	.	.	.	.	.	.	.	.	.	.	0.9998	0.872	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.000	D	.	.	.	.	.	.	.	.	.	1.506	10.99	3.03	0.838	3.888	11.229	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1461642195	2.736e-06	2.736e-06	0	5.5e-06	1.159e-05	6.4e-07	4.3e-07	7.2e-07	2e-07	0	0	0	0	0	0	2.698e-06	0	1.159e-05	1.314e-05	1.313e-05	0	2.69e-05	2.94e-05	2.18e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.94e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.101654	0.64471	D	-0.0917582	0.64029	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.485647	0.95288	34	0.97868251938024553	0.36513	0.93796	0.59215	D	AEFDBI	.	.	.	0.760877624974521	0.83613	8.063083	0.512990893291992	0.68862	5.279149	0.361270909602802	0.19780	0.053691	0.00478	0	0.060609	0.00678	0	0.060301	0.00762	0	0.057018	0.00518	0	0.23019	0.31750	3.96	3.03	0.34070	3.931000	0.56242	1.694000	0.28089	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.956000	0.50813	0.0:0.8125:0.1875:0.0	11.229	0.48133	779	0.47767	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2073.98	40	chr1	160881956	.	C	T	2073.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.969;DP=939;ExcessHet=0.0000;FS=0.548;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.88;MQRankSum=-1.207e+00;QD=11.09;ReadPosRankSum=-1.438e+00;SOR=0.783	GT:AD:DP:GQ:PL	0/1:102,85:187:99:2088,0,2525	20	0	1	0
chr1	161048864	161048864	C	G	exonic	ARHGAP30	.	nonsynonymous SNV	ARHGAP30:NM_001287602:exon8:c.G1626C:p.K542N	.	.	371	1150	1	0	0	1	0.000434594	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.55	T	0.0	B	0.001	B	0.168	N	1.000	N	0.14	N	3.07	T	-0.940	T	0.010	T	0.017	-0.308	2.533	2.21	0.223	-1.239	2.806	0.026	0.00594878585391	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.237e-05	0.0009	1.505e-05	9.664e-06	2.999e-05	7.73e-06	6.38e-06	9.36e-06	7.65e-06	2.999e-05	0	0	0	0	0	1.537e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.563	0.06691	T	0.539	0.12037	T	0.0	0.02946	B	0.001	0.04355	B	0.167583	0.17472	N	0.469196	1	0.19238	N	0.55	0.14455	N	3.07	0.30133	T	0.59	0.02558	N	0.032	0.00825	-0.9399	0.42632	T	0.010	0.03673	T	10	0.032844096	0.01445	T	0.005949	0.15520	T	0.026	0.05648	0.085	0.00830	0.082315109003	0.07666	0.020223521516263606	0.01975	0.0321919343221	0.03346	0.227677255869	0.01800	T	0.007284	0.06695	T	-0.397532	0.02403	T	-0.808803	0.01692	T	0.0349868424236774	0.02805	T	0.608539	0.22995	T	0.041750744	0.06205	0.033273403	0.02195	0.041750744	0.06205	0.033273403	0.02195	-4.588	0.32020	T	.	.	0.104	0.29560	B	.;.	.;.	0.272084	0.06499	2.975	0.87093396735068451	0.16984	0.17351	0.19799	N	AEFDBCI	0.077101	0.15528	N	-1.02014869570935	0.08186	0.382952	-0.959379613406779	0.10706	0.5409345	0.999970802198825	0.50053	0.67177	0.52595	0	0.702456	0.74545	0	0.590023	0.30420	0	0.567892	0.33627	0	.	.	4.64	2.21	0.27042	0.214000	0.17331	0.493000	0.18920	0.587000	0.30956	0.000000	0.06391	0.004000	0.18990	0.038000	0.14061	0.2667:0.4814:0.1544:0.0974	2.806	0.05095	531	0.73574	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.381	5512.66	190	chr1	161048864	.	C	G	5512.66	.	AC=16;AF=0.381;AN=42;BaseQRankSum=-5.721e+00;DP=4354;ExcessHet=20.9642;FS=217.040;InbreedingCoeff=-0.6084;MLEAC=16;MLEAF=0.381;MQ=60.00;MQRankSum=0.00;QD=1.61;ReadPosRankSum=1.77;SOR=13.867	GT:AD:DP:GQ:PL	0/1:129,65:202:99:561,0,2630	5	0	16	0
chr1	161362413	161362413	A	T	exonic	SDHC	.	nonsynonymous SNV	SDHC:NM_001035513:exon4:c.A331T:p.M111L	Gastrointestinal stromal tumor, Autosomal dominant, Isolated cases;Paraganglioma and gastric stromal sarcoma;Paragangliomas 3, Autosomal dominant	.	0	1477	45	0	0	45	0.015005	.	.	181603	Malignant_tumor_of_breast|not_specified|not_provided|Gastrointestinal_stromal_tumor|Paragangliomas_3|Ovarian_cancer|Hereditary_pheochromocytoma-paraganglioma|Hereditary_cancer-predisposing_syndrome	MONDO:MONDO:0007254,MedGen:C0006142|MedGen:CN169374|MedGen:C3661900|Human_Phenotype_Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764,Orphanet:44890|MONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373,Orphanet:29072|MONDO:MONDO:0008170,MedGen:C1140680,OMIM:167000,Orphanet:213500|MONDO:MONDO:0017366,MedGen:C1708353,Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.78	T	0.0	B	0.0	B	0.734	N	.	.	.	.	-3.43	D	-0.432	T	0.619	D	0.113	-0.590	1.356	-4.71	-0.842	-0.304	9.476	0.250	0.0570150424314	.	0.000599042	0.0006	0	0.0003	0	0	0.0002	0.0012	0.0032	2.59e-05	4	154602	rs200375156	0.0003	0.0003	0.0002	0.0005	0.0040	0.0003	0.0003	0.0036	0.0035	2.988e-05	0.0002	0	0	0	0.0035	7.556e-05	0.0006	0.0040	0.0002	0.0002	7.774e-05	0.0003	0.0044	0.0001	0.0001	0.0029	0.0025	0	0	0.0001	0	0	0	0	7.371e-05	0	0.0044	0.163	0.23450	T	0.513	0.10714	T	0.0	0.02946	B	0.0	0.01387	B	0.733946	0.09831	N	0.880348	1	0.08975	N	.	.	.	-3.43	0.94388	D	0.25	0.04456	N	0.07	0.25006	-0.4316	0.71014	T	0.619	0.86580	D	8	0.013089299	0.00279	T	0.057015	0.66813	D	0.250	0.55888	0.476	0.55342	0.583677480531	0.58040	0.3585962639238585	0.35773	1.79880672876	0.91610	0.245953053236	0.03353	T	0.091916	0.38896	T	-0.362043	0.04016	T	-0.295247	0.45225	T	0.0138114803380374	0.00261	T	0.039596	0.00274	T	0.05469047	0.10526	0.07093414	0.15130	0.041325785	0.06066	0.04859368	0.07250	1.203	0.00232	T	0.03272251798696227	0.00128	0.081	0.10256	B	.;.;.	.;.;.	-0.585972	0.01610	0.110	0.57946038623444585	0.05882	0.04530	0.10162	N	AEFGBI	0.252733	0.37236	N	-1.45194162059434	0.02201	0.09694486	-1.51548168205956	0.02225	0.1019991	0.110365338529712	0.16631	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.727631	0.95156	0	.	.	5.27	-4.71	0.03042	-0.094000	0.11060	-0.665000	0.07962	-1.618000	0.00872	0.001000	0.13787	0.000000	0.08366	0.278000	0.23967	0.1931:0.3704:0.4365:0.0	9.476	0.38037	746	0.52331	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0.04762	2001.11	43	chr1	161362413	.	A	T	2001.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=4.20;DP=966;ExcessHet=0.1072;FS=1.716;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=48.48;MQRankSum=1.35;QD=9.01;ReadPosRankSum=0.598;SOR=0.824	GT:AD:DP:GQ:PL	0/1:69,44:113:99:1158,0,1716	19	0	2	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	D	0.999	D	0.961	D	0.000	D	1.000	D	2.89	M	0.96	T	-0.470	T	0.241	T	0.926	4.491	24.1	5.56	2.115	7.303	15.384	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	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	2031.98	34	chr1	170167735	.	T	C	2031.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.553;DP=885;ExcessHet=0.0000;FS=0.585;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.39;ReadPosRankSum=-5.490e-01;SOR=0.787	GT:AD:DP:GQ:PL	0/1:81,83:164:99:2046,0,1980	20	0	1	0
chr1	175160810	175160810	C	0	exonic	KIAA0040	.	.	.	.	.	430	141	484	211	256	1162	0.762626	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5952	21772.6	79	chr1	175160810	.	C	T,*	21772.6	.	AC=20,9;AF=0.476,0.214;AN=42;BaseQRankSum=0.238;DP=1529;ExcessHet=1.3217;FS=0.603;InbreedingCoeff=-0.0027;MLEAC=20,9;MLEAF=0.476,0.214;MQ=60.00;MQRankSum=0.00;QD=16.26;ReadPosRankSum=1.92;SOR=0.673	GT:AD:DP:GQ:PGT:PID:PL:PS	1|2:0,36,26:62:99:1|0:175160809_TC_T:2335,1084,976,1195,0,1433:175160809	2	5	6	0
chr1	176710175	176710175	T	C	exonic	PAPPA2	.	nonsynonymous SNV	PAPPA2:NM_020318:exon11:c.T3650C:p.L1217P,	.	.	439	1059	23	1	0	25	0.0116659	0.0002	0.024	696287	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.11	T	0.459	P	0.112	B	0.001	D	1.000	D	1.355	L	4.73	T	-0.709	T	0.005	T	0.436	1.982	12.58	1.94	0.435	0.981	1.382	0.094	.	0.0021	0.00359425	0.0049	0.0003	0.0009	0.0002	0.0032	0.0019	0.0068	0.0262	0.0042173	652	154602	rs61745526	0.0030	0.0030	0.0024	0.0036	0.0230	0.0029	0.0029	0.0222	0.0219	0.0002	0.0012	0.0048	5.039e-05	0.0031	0.0040	0.0017	0.0031	0.0230	0.0022	0.0022	0.0020	0.0024	0.0170	0.0020	0.0019	0.0141	0.0130	0.0003	0	0.0025	0.0058	0	0.0027	0.0034	0.0021	0.0028	0.0170	0.139	0.25768	T	0.113	0.36901	T	0.459	0.36338	P	0.112	0.31615	B	0.000784	0.41772	D	0.292946	0.993073	0.41828	D	1.1	0.28011	L	4.73	0.01620	T	-0.02	0.07299	N	0.451	0.48872	-0.7085	0.60026	T	0.005	0.01578	T	10	0.005887717	0.00132	T	.	.	.	0.094	0.27141	.	.	0.307016933798	0.30308	0.708437537603531	0.70785	0.394741684332	0.40623	0.275438189507	0.06865	T	0.06599	0.32829	T	-0.522437	0.00426	T	-0.504968	0.21832	T	0.0113079434055903	0.00167	T	0.475152	0.14192	T	0.05695342	0.11272	0.07811483	0.17466	0.05695342	0.11271	0.07811483	0.17466	-4.195	0.26679	T	.	.	0.128	0.27252	B	.	.	2.359567	0.30260	18.38	0.98010147429630201	0.37551	0.68985	0.34011	D	AEFI	0.201366	0.32803	N	-0.344567882057387	0.27471	1.50752	-0.262300668550359	0.29350	1.643689	2.80146031325879E-5	0.03498	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.76	1.94	0.25058	0.579000	0.23490	2.451000	0.32813	-0.157000	0.11712	0.993000	0.37899	1.000000	0.68203	0.687000	0.33748	0.2441:0.094:0.1374:0.5245	1.382	0.02099	713	0.56348	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.04762	2736.11	35	chr1	176710175	.	T	C	2736.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=2.15;DP=855;ExcessHet=0.1072;FS=0.587;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=14.55;ReadPosRankSum=-3.970e-01;SOR=0.753	GT:AD:DP:GQ:PL	0/1:46,56:102:99:1578,0,1138	19	0	2	0
chr1	178521252	178521252	A	G	exonic	TEX35	.	nonsynonymous SNV	TEX35:NM_001170722:exon8:c.A598G:p.N200D	.	.	424	1087	10	1	0	12	0.00548948	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.557	P	0.167	B	0.020	N	1.000	N	1.445	L	2.16	T	-0.971	T	0.106	T	0.124	0.968	8.949	1.13	0.817	1.608	5.301	0.041	0.0350489334889	0.0019	0.000998403	0.0029	0.0002	0.0052	0.0001	0.0003	0.0036	0.0099	0.0023	0.0027231	421	154602	rs35619308	0.0025	0.0025	0.0024	0.0025	0.0054	0.0024	0.0024	0.0039	0.0034	0.0002	0.0037	0.0170	2.519e-05	0.0011	0.0054	0.0022	0.0034	0.0023	0.0024	0.0024	0.0025	0.0023	0.0024	0.0022	0.0021	0.0021	0.0019	0.0004	0.0626	0.0024	0.0196	0.0002	0.0010	0	0.0024	0.0038	0.0017	0.014	0.53172	D	0.049	0.48336	D	0.557	0.38282	P	0.117	0.35118	B	0.019846	0.27167	N	0.264306	1	0.08975	N	0.895	0.22405	L	2.16	0.19166	T	-3.27	0.65512	D	0.484	0.67736	-0.9711	0.36967	T	0.106	0.38709	T	10	0.0051191747	0.00111	T	0.035049	0.56085	D	0.041	0.10877	.	.	0.328222422547	0.32431	0.05186873901639505	0.05128	0.45569561793	0.45240	0.376475811005	0.21756	T	0.018851	0.15125	T	-0.591496	0.00164	T	-0.624525	0.10833	T	0.0479193392864445	0.05130	T	0.686431	0.29515	T	0.20776632	0.42993	0.17991318	0.40757	0.20776632	0.42992	0.17991318	0.40756	-3.75	0.21674	T	.	.	0.159	0.39999	B	.;.;.	.;.;.	3.830527	0.55368	23.6	0.88047011661222241	0.17676	0.32484	0.24597	N	AEFBI	0.095661	0.19325	N	-0.0685080950234173	0.38780	2.276583	-0.0925411970727767	0.35698	2.068348	0.139201849582681	0.17241	0.487112	0.14033	0	0.59043	0.45803	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	4.96	1.13	0.19758	1.595000	0.36318	7.553000	0.60314	0.691000	0.84096	0.975000	0.34726	1.000000	0.68203	0.951000	0.49849	0.4768:0.3528:0.0:0.1703	5.301	0.15087	804	0.43891	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1995.98	34	chr1	178521252	.	A	G	1995.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.170;DP=937;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.45;ReadPosRankSum=0.733;SOR=0.662	GT:AD:DP:GQ:PL	0/1:103,88:191:99:2010,0,2493	20	0	1	0
chr1	179109277	179109277	T	A	exonic	ABL2	.	nonsynonymous SNV	ABL2:NM_001168236:exon11:c.A1927T:p.T643S	Leukemia, acute myeloid, with eosinophilia (1)	.	428	1093	1	0	0	1	0.000457247	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.925	P	0.644	P	0.000	D	1.000	D	1.1	L	2.31	T	-1.122	T	0.051	T	0.255	1.933	12.42	5.57	2.126	3.225	11.004	0.052	0.00542800391225	.	.	7.413e-05	0	0	0	0	8.991e-05	0	0.0002	6.47e-05	10	154602	rs141450341	7.935e-05	7.935e-05	7.351e-05	8.526e-05	0.0009	6.734e-05	6.267e-05	0.0003	0.0002	0	0	0.0013	0	0	0.0009	4.946e-05	9.938e-05	0.0002	4.604e-05	4.597e-05	3.857e-05	5.387e-05	0.0002	2.111e-05	1.528e-05	1.171e-05	6.25e-06	0	0	0	0.0006	0	0	0	4.412e-05	0.0005	0.0002	0.008	0.59928	D	0.064	0.56640	T	0.779	0.51395	P	0.194	0.52249	B	0.000052	0.53742	D	0.000000	0.964194	0.38392	D	0.695	0.17993	N	2.31	0.16794	T	-1.29	0.32387	N	0.25	0.38541	-1.1217	0.02227	T	0.051	0.21883	T	10	0.106054425	0.19635	T	0.005428	0.13954	T	0.052	0.14661	0.155	0.05858	0.879254406514	0.87807	0.2142562127953126	0.21341	0.137642060702	0.15518	0.552852511406	0.46260	T	0.105382	0.41579	T	-0.370956	0.03545	T	-0.496329	0.22728	T	0.0961064311986912	0.11922	T	0.873613	0.63576	D	0.14823571	0.33850	0.14026311	0.33440	0.14823571	0.33850	0.14026311	0.33440	-5.071	0.37674	T	.	.	0.127	0.54019	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	3.175338	0.43079	21.7	0.98612384348659088	0.43664	0.98346	0.81852	D	AEFDBI	0.487417	0.52617	N	0.226773287974403	0.52501	3.423763	0.335240327739351	0.57623	3.928728	0.999940926034198	0.47345	0.67177	0.52595	0	0.546412	0.12157	0	0.608884	0.39905	0	0.711	0.71501	0	.	.	5.57	5.57	0.84021	3.832000	0.55485	4.119000	0.41963	0.605000	0.46263	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:0.1558:0.8442	11.004	0.46837	488	0.76887	.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2130.98	33	chr1	179109277	.	T	A	2130.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.243;DP=904;ExcessHet=0.0000;FS=1.202;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.25;ReadPosRankSum=-1.304e+00;SOR=0.811	GT:AD:DP:GQ:PL	0/1:89,85:174:99:2145,0,2350	20	0	1	0
chr1	179903964	179903964	A	C	splicing	TOR1AIP1	NM_001267578:exon6:c.743-2A>C;NM_015602:exon6:c.740-2A>C	.	.	.	.	.	.	.	.	.	.	.	1.0000	0.752	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.879	D	.	.	.	.	.	.	.	.	.	0.905	8.680	3.14	1.963	2.159	6.691	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.878549	0.35703	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.256537	0.13309	T	-0.606274	0.12289	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.;.;.	.;.;.;.;.	4.233948	0.64133	24.7	0.80054460604190703	0.13023	0.68779	0.33932	D	AEFBI	.	.	.	0.627468078035172	0.74919	6.21507	0.341725435525886	0.58011	3.969298	0.389250930296501	0.20031	0.295142	0.05270	0	0.30413	0.05452	0	0.060301	0.00762	0	0.089874	0.02613	0	0.187005	0.29800	4.36	3.14	0.35196	2.145000	0.41830	4.074000	0.41688	0.756000	0.94297	0.987000	0.36337	0.918000	0.28264	0.821000	0.38685	0.7895:0.0:0.0:0.2105	6.691	0.22360	418	0.81602	.;.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.15	528.34	34	chr1	179903964	.	A	C	528.34	.	AC=6;AF=0.150;AN=40;BaseQRankSum=-3.394e+00;DP=1049;ExcessHet=1.7912;FS=123.470;InbreedingCoeff=-0.1775;MLEAC=6;MLEAF=0.150;MQ=59.88;MQRankSum=0.00;QD=1.26;ReadPosRankSum=1.52;SOR=8.977	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:65,11:76:25:0|1:179903957_A_C:25,0,1884:179903957	14	0	6	1
chr1	179996909	179996909	C	T	exonic	CEP350	.	nonsynonymous SNV	CEP350:NM_014810:exon6:c.C752T:p.A251V,	.	.	430	1091	0	1	0	2	0.000915751	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	B	0.0	B	0.078	N	1.000	N	-0.695	N	2.14	T	-0.986	T	0.015	T	0.14	-0.931	0.376	2.93	0.333	-0.247	2.242	0.027	0.00630035234136	0.0002	0.000199681	0.0001	0	0	0	0	0.0001	0.0022	0.0004	0.0001164	18	154602	rs149644649	9.373e-05	9.44e-05	0.0001	8.664e-05	0.0003	8.093e-05	7.585e-05	0.0002	0.0002	2.987e-05	2.236e-05	0	0	3.746e-05	0.0002	8.904e-05	0.0001	0.0003	5.91e-05	5.906e-05	5.141e-05	6.713e-05	0.0002	3.075e-05	2.209e-05	5.842e-05	4.239e-05	0	0	0	0	0	0	0	0.0001	0	0.0002	1.0	0.11550	T	0.557	0.09205	T	0.0	0.02946	B	0.0	0.01387	B	0.077739	0.21086	N	0.335465	1	0.08975	N	-1.87	0.00254	N	2.14	0.19450	T	0.67	0.02263	N	0.093	0.07262	-0.9859	0.33615	T	0.015	0.06138	T	9	0.0075332224	0.00171	T	0.006	0.16551	T	0.027	0.05988	.	.	0.0675242888579	0.06100	0.050824412617870074	0.05024	0.0675433162862	0.07553	0.321871310472	0.13705	T	0.003862	0.03272	T	-0.546902	0.00304	T	-0.712845	0.05149	T	0.0247158167057292	0.01235	T	0.410359	0.14930	T	0.02306487	0.01016	0.033250574	0.02190	0.02306487	0.01016	0.033250574	0.02189	-3.115	0.11469	T	.	.	0.051	0.00183	B	.;.	.;.	0.426718	0.07970	4.685	0.6903592203035307	0.08844	0.01923	0.05872	N	AEFBI	0.026207	0.01926	N	-1.05339858936749	0.07521	0.3496577	-0.889446620208868	0.12343	0.6343766	0.998633968388086	0.37351	0.489673	0.17934	0	0.71359	0.82159	0	0.463624	0.06942	0	0.635551	0.53088	0	.	.	5.47	2.93	0.33092	-0.182000	0.09720	0.940000	0.22845	-1.687000	0.00777	0.088000	0.22533	1.000000	0.68203	0.415000	0.27117	0.1469:0.0844:0.3038:0.4649	2.242	0.03777	185	0.92771	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2164.98	33	chr1	179996909	.	C	T	2164.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.72;DP=877;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.44;ReadPosRankSum=-1.258e+00;SOR=0.653	GT:AD:DP:GQ:PL	0/1:91,83:174:99:2179,0,2200	20	0	1	0
chr1	181651376	181651376	C	G	exonic	CACNA1E	.	stopgain	CACNA1E:NM_000721:exon7:c.C990G:p.Y330X	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	.	.	.	.	0.000	D	1.000	D	.	.	.	.	.	.	.	.	.	5.080	31	3.16	1.233	1.894	10.219	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0.0015	0.0002	0.0002	0.0002	0.0002	0.0002	0.0002	0.0002	9.176e-05	0	0	0	0	0	0.0002	0.0002	0.0001	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000152	0.49130	D	0.184301	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.813	0.80964	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.607496	0.97860	D	0.634849	0.97827	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.;.;Recessive;.;.;.;.	.;.;.;.;High;.;.;.;.	7.541588	0.96621	36	0.99781923951723206	0.86867	0.94030	0.59902	D	AEFDBI	0.321650	0.42439	N	0.624659178573725	0.74736	6.183878	0.466905708948269	0.65809	4.871025	0.999982252266257	0.51787	0.615465	0.37627	0	0.653731	0.59785	0	0.658983	0.55881	0	0.564101	0.26826	0	.	.	5.12	3.16	0.35406	1.546000	0.35787	1.050000	0.23629	0.597000	0.34315	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.8307:0.0:0.1693	10.219	0.42363	702	0.57624	Ion transport domain;.;.;Ion transport domain;Ion transport domain;Ion transport domain;.;Ion transport domain;.	.	.	.	.	.	Pathogenic	1	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.25	516.78	82	chr1	181651376	.	C	G	516.78	.	AC=5;AF=0.250;AN=20;BaseQRankSum=-2.592e+00;DP=1988;ExcessHet=1.1607;FS=273.598;InbreedingCoeff=-0.3191;MLEAC=7;MLEAF=0.350;MQ=60.00;MQRankSum=0.00;QD=0.78;ReadPosRankSum=0.266;SOR=10.462	GT:AD:DP:GQ:PL	0/1:105,35:146:99:159,0,1803	5	0	5	11
chr1	200850112	200850112	G	A	exonic	CAMSAP2	.	nonsynonymous SNV	CAMSAP2:NM_001297708:exon11:c.G3295A:p.V1099I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.18	T	0.983	D	0.908	P	0.000	D	1.000	D	1.905	M	2.23	T	-1.150	T	0.110	T	0.313	5.059	31	5.92	2.804	9.855	20.321	0.280	0.00643233359167	.	.	8.25e-06	0	0	0	0	1.5e-05	0	0	6.5e-06	1	154602	rs767992979	4.104e-06	4.104e-06	2.723e-06	5.5e-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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.276	0.15717	T	0.183	0.29153	T	0.961	0.60381	D	0.747	0.64494	P	0.000000	0.84330	D	0.000000	1	0.81001	D	1.11	0.28643	L	2.23	0.18414	T	-0.61	0.18042	N	0.359	0.52119	-1.1503	0.01016	T	0.110	0.39604	T	10	0.22362337	0.39145	T	0.006432	0.16927	T	0.280	0.59740	0.402	0.43245	0.343804874344	0.33996	0.16845614833034608	0.16765	0.688400970098	0.60436	0.567480862141	0.48322	T	0.074023	0.34838	T	-0.131941	0.31184	T	-0.427301	0.30242	T	0.734199275228773	0.42429	D	0.919108	0.71813	D	0.07318178	0.16333	0.11735631	0.28330	0.07318178	0.16333	0.11735631	0.28329	-4.746	0.33956	T	.	.	0.245	0.47955	B	.;.;.	.;.;.	4.515459	0.70752	25.6	0.99816845687199518	0.89973	0.99829	0.99726	D	AEFGBI	0.865390	0.78447	D	0.798083632520775	0.85986	8.742778	0.838104879806171	0.92302	11.34911	0.999999999999999	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.92	5.92	0.95557	9.988000	0.99205	11.800000	0.96626	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:1.0:0.0	20.321	0.98679	622	0.65860	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	3759.98	40	chr1	200850112	.	G	A	3759.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.29;DP=990;ExcessHet=0.0000;FS=1.426;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.38;ReadPosRankSum=-1.296e+00;SOR=0.596	GT:AD:DP:GQ:PL	0/1:138,143:281:99:3774,0,3420	20	0	1	0
chr1	201089263	201089263	A	G	exonic	CACNA1S	.	nonsynonymous SNV	CACNA1S:NM_000069:exon6:c.T895C:p.Y299H,	Hypokalemic periodic paralysis, type 1, Autosomal dominant	YES	1	1517	4	0	0	4	0.00131666	.	.	249651	Thyrotoxic_periodic_paralysis,_susceptibility_to,_1|Malignant_hyperthermia,_susceptibility_to,_5|not_provided|Hypokalemic_periodic_paralysis,_type_1|not_specified|Congenital_myopathy_18	MONDO:MONDO:0008570,MedGen:C2749982,OMIM:188580,Orphanet:79102|MONDO:MONDO:0011163,MedGen:C1866077,OMIM:601887,Orphanet:423|MedGen:C3661900|MONDO:MONDO:0042979,MedGen:C3714580,OMIM:170400,Orphanet:681|MedGen:CN169374|MONDO:MONDO:0859514,MedGen:C5830283,OMIM:620246	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.000	D	1.000	D	3.825	H	-4.42	D	0.563	D	0.904	D	0.351	4.151	21.5	4.85	1.952	9.065	14.714	0.873	.	0.0070	0.00479233	0.0021	0.0235	0.0009	0	0	3.004e-05	0.0011	6.065e-05	0.0019987	309	154602	rs35856559	0.0008	0.0008	0.0009	0.0007	0.0287	0.0008	0.0008	0.0272	0.0266	0.0287	0.0011	0	5.038e-05	0	0.0017	2.248e-05	0.0020	6.956e-05	0.0072	0.0072	0.0071	0.0073	0.0252	0.0068	0.0067	0.0239	0.0234	0.0252	0	0.0022	0	0.0006	0	0	4.41e-05	0.0028	0.0004	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000044	0.53742	D	0.128767	0.999984	0.54805	D	4.08	0.97210	H	-4.42	0.97469	D	-4.47	0.77881	D	0.962	0.97750	0.563	0.91403	D	0.904	0.96805	D	10	0.016077429	0.00338	T	.	.	.	0.873	0.96207	.	.	0.962102009836	0.96169	0.9201713788713717	0.91993	0.592222424292	0.54623	0.876785755157	0.93524	D	0.783625	0.96710	D	-0.0789796	0.39881	T	0.134047	0.79155	D	0.083338474373864	0.10409	T	0.988576	0.96102	D	0.8064364	0.84320	0.75526536	0.85536	0.7769782	0.82470	0.73921686	0.84587	-11.211	0.80802	D	0.7729291170277761	0.85373	0.797	0.77135	P	.;.	.;.	4.861463	0.79558	27.1	0.99852932686632134	0.93191	0.94460	0.61236	D	AEFGBHCI	0.905360	0.85678	D	0.90775613330826	0.92133	11.25219	0.783717617337833	0.88637	9.658235	0.999999999999997	0.74766	0.55562	0.30534	0	0.563428	0.19063	0	0.68496	0.61776	0	0.530356	0.10902	0	.	.	4.85	4.85	0.62375	9.154000	0.93851	11.026000	0.85008	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.902000	0.43815	1.0:0.0:0.0:0.0	14.714	0.68869	917	0.20147	Ion transport domain;Ion transport domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1472.98	34	chr1	201089263	.	A	G	1472.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.206;DP=849;ExcessHet=0.0000;FS=5.128;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.45;ReadPosRankSum=-3.670e-01;SOR=0.387	GT:AD:DP:GQ:PL	0/1:78,63:141:99:1487,0,2011	20	0	1	0
chr1	201313277	201313277	G	A	exonic	PKP1	.	nonsynonymous SNV	PKP1:NM_000299:exon3:c.G418A:p.A140T	Ectodermal dysplasia/skin fragility syndrome	.	.	.	.	.	.	.	.	.	.	279729	Epidermolysis_bullosa_simplex_due_to_plakophilin_deficiency|PKP1-related_disorder|not_provided	MONDO:MONDO:0011472,MedGen:C1858302,OMIM:604536,Orphanet:158668|.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.3	T	0.004	B	0.001	B	0.010	N	1.000	N	0	N	-0.81	T	-0.993	T	0.119	T	0.122	1.316	10.31	2.21	1.155	1.789	9.149	0.070	0.0278449773218	0.0014	0.00119808	0.0009	0.0088	0.0008	0	0	0	0	8.949e-05	0.0005369	83	154602	rs77893096	0.0003	0.0003	0.0003	0.0002	0.0077	0.0002	0.0002	0.0069	0.0066	0.0077	0.0005	0	0	0	0.0010	4.063e-05	0.0008	0.0001	0.0021	0.0021	0.0022	0.0020	0.0073	0.0019	0.0018	0.0066	0.0064	0.0073	0	0.0008	0	0	0	0.0068	2.94e-05	0.0009	0.0002	0.092	0.32929	T	0.284	0.22761	T	0.001	0.12183	B	0.001	0.04355	B	0.009642	0.30263	N	0.228496	0.999999	0.08975	N	0	0.06538	N	-0.9	0.74896	T	-0.94	0.25118	N	0.356	0.39760	-0.9934	0.31722	T	0.119	0.41648	T	10	0.0055290163	0.00122	T	0.027845	0.50607	D	0.070	0.20419	.	.	0.618889070266	0.61580	0.4934919468229852	0.49270	0.0857344890046	0.09686	0.48568713665	0.36841	T	0.031677	0.22152	T	-0.497759	0.00588	T	-0.484187	0.24001	T	0.00701008582061214	0.00080	T	0.70273	0.31245	T	0.07123138	0.15754	0.08226658	0.18761	0.07123138	0.15753	0.08226658	0.18761	-2.84	0.08557	T	0.11920611003650912	0.11079	0.066	0.02118	B	.;.;.	.;.;.	2.083715	0.26501	17.14	0.99432106821690125	0.64325	0.19902	0.20839	N	AEFDGBI	0.073473	0.14697	N	-0.755683203231675	0.14479	0.721603	-0.678401508677739	0.17501	0.9308807	0.99999398740372	0.74766	0.554377	0.28877	0	0.59043	0.45803	0	0.602189	0.34648	0	0.542086	0.14980	0	.	.	4.25	2.21	0.27042	1.819000	0.38660	3.631000	0.39316	0.618000	0.50648	0.564000	0.27457	0.992000	0.31684	0.871000	0.41478	0.0893:0.2784:0.6322:0.0	9.149	0.36115	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	0	0	0.02381	948.98	34	chr1	201313277	.	G	A	948.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.027;DP=786;ExcessHet=0.0000;FS=0.810;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.78;ReadPosRankSum=1.13;SOR=0.732	GT:AD:DP:GQ:PL	0/1:50,38:88:99:963,0,1329	20	0	1	0
chr1	201386873	201386876	CCCA	0	exonic	LAD1	.	.	.	.	.	409	980	89	5	39	138	0.0480816	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	3927.24	33	chr1	201386873	.	CCCA	C,*	3927.24	.	AC=2,1;AF=0.048,0.024;AN=42;BaseQRankSum=0.458;DP=1036;ExcessHet=0.3300;FS=1.817;InbreedingCoeff=-0.0769;MLEAC=2,1;MLEAF=0.048,0.024;MQ=60.00;MQRankSum=0.00;QD=12.08;ReadPosRankSum=1.49;SOR=0.599	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:62,55,0:117:99:.:.:2123,0,2438,2310,2603,4913	18	0	2	0
chr1	201386876	201386878	ACC	0	exonic	LAD1	.	.	.	.	.	410	979	40	2	91	135	0.021978	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	1948.11	33	chr1	201386876	.	ACC	A,*	1948.11	.	AC=1,2;AF=0.024,0.048;AN=42;BaseQRankSum=0.832;DP=1037;ExcessHet=0.3300;FS=1.817;InbreedingCoeff=-0.0769;MLEAC=1,2;MLEAF=0.024,0.048;MQ=60.00;MQRankSum=0.00;QD=5.99;ReadPosRankSum=0.785;SOR=0.599	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:62,0,55:117:99:.:.:2123,2310,4913,0,2603,2438	18	0	1	0
chr1	203773927	203773927	C	T	exonic	LAX1	.	nonsynonymous SNV	LAX1:NM_001136190:exon5:c.C395T:p.T132I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.73	T	0.0	B	0.0	B	0.001	N	1.000	N	0.345	N	.	.	-1.051	T	0.037	T	0.071	-1.072	0.171	-5.63	-0.987	-0.102	0.945	0.007	0.00243153906588	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1482081639	6.841e-07	6.84e-07	1.361e-06	0	2.236e-05	0	0	.	.	0	2.236e-05	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.421	0.09806	T	0.957	0.02568	T	0.0	0.02946	B	0.0	0.01387	B	0.001375	0.00776	N	2.920520	1	0.08975	N	0.345	0.11182	N	.	.	.	1.54	0.00702	N	0.029	0.00666	-1.0513	0.14036	T	0.037	0.15943	T	9	0.045133114	0.03550	T	0.002432	0.04785	T	0.007	0.00512	.	.	0.289474373501	0.28556	0.008223263061488798	0.00787	0.105701892272	0.11951	0.193740367889	0.00298	T	0.077062	0.35566	T	-0.379029	0.03160	T	-0.69936	0.05861	T	0.0423558410000536	0.04119	T	0.393961	0.09832	T	0.018030172	0.00325	0.023556141	0.00369	0.018030172	0.00325	0.023556141	0.00369	-4.885	0.35566	T	.	.	0.110	0.28377	B	.;.	.;.	-1.057657	0.00693	0.020	0.13089565966618066	0.00247	0.00211	0.01201	N	AEFDBI	0.015332	0.00287	N	-1.9883459270979	0.00224	0.009602663	-1.99925276281	0.00307	0.01357292	0.120833980599573	0.16877	0.706298	0.61202	0	0.709663	0.81188	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.34	-5.63	0.02276	-0.099000	0.10976	-3.362000	0.02845	-3.032000	0.00135	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.266:0.3154:0.1263:0.2923	0.945	0.01278	472	0.77968	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1746.98	38	chr1	203773927	.	C	T	1746.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.141e+00;DP=1053;ExcessHet=0.0000;FS=0.678;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.76;ReadPosRankSum=-1.199e+00;SOR=0.818	GT:AD:DP:GQ:PL	0/1:52,75:127:99:1761,0,1239	20	0	1	0
chr1	205579938	205579938	G	A	exonic	MFSD4A	.	nonsynonymous SNV	MFSD4A:NM_181644:exon2:c.G418A:p.V140I,	.	.	.	.	.	.	.	.	.	.	.	2281705	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.23	T	0.021	B	0.013	B	0.045	N	0.999	N	0.18	N	0.38	T	-0.958	T	0.203	T	0.089	-0.120	3.412	-1.95	-0.671	-0.203	5.835	0.061	0.00919647144631	.	.	7.662e-05	0	0.0006	0	0	0	0	0.0001	7.76e-05	12	154602	rs780784780	4.039e-05	4.036e-05	4.085e-05	3.991e-05	0.0005	3.181e-05	2.912e-05	0.0003	0.0003	2.987e-05	0.0005	3.83e-05	0	0	0	2.34e-05	4.971e-05	8.118e-05	6.571e-05	6.567e-05	6.423e-05	6.726e-05	0.0002	3.517e-05	2.616e-05	2.847e-05	1.858e-05	4.825e-05	0	0.0001	0	0	0	0	7.351e-05	0	0.0002	0.665	0.04629	T	0.664	0.11515	T	0.021	0.18474	B	0.013	0.16460	B	0.045245	0.23556	N	0.472558	0.999406	0.21245	N	.	.	.	0.38	0.57575	T	-0.44	0.14588	N	0.107	0.16447	-0.9578	0.39589	T	0.203	0.56087	T	10	0.033946753	0.01586	T	0.009196	0.24177	T	0.061	0.17616	.	.	0.24896430686	0.24499	0.18633780903888286	0.18551	0.372636218352	0.38753	0.262227237225	0.05158	T	0.043664	0.44271	T	-0.506546	0.00525	T	-0.624846	0.10808	T	0.00844687713013806	0.00102	T	0.870113	0.57479	D	0.022797734	0.00969	0.027030488	0.00827	0.022797734	0.00969	0.027030488	0.00827	-2.831	0.08472	T	.	.	0.063	0.06069	B	.;.;.;.;.	.;.;.;.;.	-0.283672	0.02689	0.349	0.83326405053252184	0.14664	0.06006	0.11970	N	AEFDGBI	0.079936	0.16154	N	-1.11040323228583	0.06457	0.2973034	-1.13266729105218	0.07083	0.3432285	0.997771109025215	0.36014	0.497415	0.19182	0	0.59043	0.45803	0	0.607795	0.38427	0	0.530356	0.10902	0	.	.	4.18	-1.95	0.07135	-0.182000	0.09720	-0.650000	0.08033	0.665000	0.62972	0.001000	0.13787	0.000000	0.08366	0.523000	0.29544	0.6139:0.0:0.2334:0.1527	5.835	0.17858	676	0.60355	Major facilitator superfamily domain;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1097.98	38	chr1	205579938	.	G	A	1097.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.449;DP=778;ExcessHet=0.0000;FS=2.027;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.08;ReadPosRankSum=-2.660e-01;SOR=1.077	GT:AD:DP:GQ:PL	0/1:36,42:78:99:1112,0,873	20	0	1	0
chr1	205918866	205918866	C	T	exonic	SLC26A9	.	nonsynonymous SNV	SLC26A9:NM_052934:exon19:c.G2230A:p.V744M	.	.	421	1068	33	0	0	33	0.0152144	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	T	0.958	D	0.288	B	0.159	N	1.000	N	0.695	N	-3.13	D	-0.033	T	0.631	D	0.12	1.411	10.65	5.09	2.512	2.596	16.650	0.218	.	0.0012	0.00359425	0.0033	0.0002	0.0024	0.0009	0.0002	0.0022	0.0011	0.0132	0.0030271	468	154602	rs3811428	0.0022	0.0022	0.0017	0.0028	0.0165	0.0022	0.0022	0.0138	0.0134	0.0003	0.0019	0.0014	0.0019	7.489e-05	0.0165	0.0014	0.0033	0.0143	0.0014	0.0014	0.0012	0.0017	0.0141	0.0013	0.0012	0.0114	0.0104	0.0003	0	0.0012	0.0003	0.0008	0	0.0102	0.0015	0.0028	0.0141	0.026	0.46910	D	0.035	0.52389	D	0.958	0.54977	D	0.212	0.37394	B	0.158721	0.17732	N	0.532850	1	0.08975	N	0.345	0.11182	N	-3.19	0.93170	D	-0.38	0.13418	N	0.121	0.11626	-0.0334	0.81558	T	0.631	0.87058	D	10	0.004286289	0.00086	T	.	.	.	0.218	0.51265	.	.	0.463758542814	0.46003	0.2079003846332552	0.20706	0.316868486577	0.33939	0.359819203615	0.19359	T	0.048957	0.28168	T	-0.369372	0.03626	T	-0.291678	0.45598	T	0.0199713690935827	0.00698	T	0.610439	0.23144	T	0.04091638	0.05928	0.06968265	0.14711	0.04091638	0.05928	0.06968265	0.14710	-4.697	0.33367	T	.	.	0.085	0.15206	B	.;.;.	.;.;.	1.401607	0.18160	13.58	0.98484900196720704	0.42025	0.50306	0.28632	D	AEFGBCI	0.179596	0.30689	N	-0.191187549987939	0.33500	1.901282	-0.237078801735528	0.30219	1.699585	0.999999999805781	0.74766	0.533608	0.22052	0	0.615948	0.52940	0	0.547309	0.15389	0	0.638833	0.57524	0	.	.	5.09	5.09	0.68647	1.906000	0.39518	0.606000	0.19981	0.599000	0.40250	0.011000	0.18532	0.000000	0.08366	0.004000	0.06068	0.0:1.0:0.0:0.0	16.650	0.85044	847	0.35998	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	2462.11	34	chr1	205918866	.	C	T	2462.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.431;DP=902;ExcessHet=0.1072;FS=0.000;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=11.56;ReadPosRankSum=-1.600e+00;SOR=0.684	GT:AD:DP:GQ:PL	0/1:48,58:106:99:1397,0,1094	19	0	2	0
chr1	220074013	220074013	G	A	exonic	BPNT1	.	nonsynonymous SNV	BPNT1:NM_001286149:exon2:c.C14T:p.S5F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.998	D	0.954	D	0.000	D	1.000	D	1.975	M	0.6	T	-0.423	T	0.324	T	0.434	5.220	33	5.46	2.579	8.461	18.965	0.232	0.0154197554854	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.78490	D	0.011	0.66756	D	0.976	0.73220	D	0.656	0.69447	P	0.000211	0.47681	D	0.219548	0.999952	0.52396	D	1.88	0.49984	L	0.6	0.53731	T	-2.97	0.67477	D	0.277	0.45142	-0.4230	0.71293	T	0.324	0.69229	T	10	0.43486527	0.57728	T	0.01542	0.36141	T	0.232	0.53354	0.559	0.67821	0.389750110748	0.38591	0.5169334974436691	0.51616	1.08208159744	0.77162	0.426841616631	0.28777	T	0.301469	0.74289	T	0.0152297	0.53736	T	-0.2159	0.53131	T	0.982898235321045	0.74768	D	0.950605	0.94694	D	0.48621652	0.66276	0.29615304	0.55647	0.48621652	0.66276	0.29615304	0.55646	-6.095	0.52752	T	.	.	0.301	0.53557	B	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	5.250497	0.88155	29.5	0.99866309272931864	0.94457	0.98053	0.79201	D	AEFBI	0.917709	0.88573	D	0.72359014131207	0.81179	7.461924	0.748747437073254	0.86064	8.771071	0.99999998547948	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	5.46	5.46	0.80021	9.014000	0.93156	11.727000	0.94923	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	18.965	0.92670	824	0.40336	.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.2188	396.55	55	chr1	220074013	.	G	A	396.55	.	AC=7;AF=0.219;AN=32;BaseQRankSum=-3.491e+00;DP=1720;ExcessHet=2.5830;FS=279.111;InbreedingCoeff=-0.3038;MLEAC=9;MLEAF=0.281;MQ=60.00;MQRankSum=0.00;QD=0.59;ReadPosRankSum=0.665;SOR=11.761	GT:AD:DP:GQ:PL	0/1:72,34:115:60:60,0,1284	9	0	7	5
chr1	220154029	220154029	G	C	exonic	RAB3GAP2	.	nonsynonymous SNV	RAB3GAP2:NM_012414:exon32:c.C3584G:p.T1195S,	Martsolf syndrome, Autosomal recessive;Warburg micro syndrome 2, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.31	T	0.918	P	0.243	B	0.000	D	0.990	D	0.83	L	1.55	T	-1.120	T	0.056	T	0.262	3.544	18.08	5.73	2.861	6.815	20.260	0.141	0.00874835817134	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.849e-07	5.199e-05	1.363e-06	0	9.003e-07	0	0	.	.	0	0	0	0	0	0	9.003e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.191	0.21066	T	0.709	0.05544	T	0.918	0.50838	P	0.243	0.38752	B	0.000001	0.62929	D	0.097802	0.989506	0.40966	D	1.965	0.53209	M	1.55	0.29866	T	-1.19	0.30346	N	0.147	0.14905	-1.1200	0.02331	T	0.056	0.23715	T	10	0.2658563	0.44086	T	0.008748	0.23099	T	0.141	0.37795	0.358	0.36060	0.223474106383	0.21959	0.16981700195601018	0.16901	0.592570687533	0.54640	0.739543437958	0.72906	T	0.027942	0.20352	T	-0.137119	0.30348	T	-0.434738	0.29399	T	0.899769723415375	0.55214	D	0.762924	0.38892	T	0.1383725	0.32004	0.21677402	0.46317	0.1383725	0.32004	0.21677402	0.46316	-2.787	0.08064	T	0.07926114128440298	0.03886	0.096	0.15475	B	.	.	3.368266	0.46533	22.3	0.99285218365232031	0.58043	0.98279	0.81205	D	AEFBI	0.720452	0.67101	D	0.402651685043986	0.61569	4.359683	0.526830799331264	0.69803	5.412558	0.999690459879266	0.41870	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.727631	0.95156	0	.	.	5.73	5.73	0.89730	6.424000	0.73282	11.862000	0.98348	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	20.260	0.98443	533	0.73433	Rab3GAP regulatory subunit, C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.2619	372.12	113	chr1	220154029	.	G	C	372.12	.	AC=11;AF=0.262;AN=42;BaseQRankSum=-2.626e+00;DP=1942;ExcessHet=7.7275;FS=214.208;InbreedingCoeff=-0.3437;MLEAC=10;MLEAF=0.238;MQ=60.00;MQRankSum=0.00;QD=0.39;ReadPosRankSum=-8.540e-01;SOR=12.523	GT:AD:DP:GQ:PL	0/1:78,33:120:18:18,0,999	10	0	11	0
chr1	224434204	224434204	-	GGAGGAGGA	exonic	WDR26	.	nonframeshift insertion	WDR26:NM_001379403:exon1:c.201_202insTCCTCCTCC:p.S67_V68insSSS,	.	.	.	.	.	.	.	.	.	.	.	2816080	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002305	6	26028	rs144531645	0.0027	0.0024	0.0027	0.0027	0.0043	0.0026	0.0026	0.0038	0.0037	0.0008	0.0018	0.0046	0.0001	0.0012	0.0025	0.0028	0.0026	0.0043	0.0019	0.0019	0.0020	0.0018	0.0047	0.0017	0.0017	0.0032	0.0027	0.0008	0	0.0021	0.0041	0	0.0018	0	0.0025	0.0005	0.0047	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3095	5424.84	16	chr1	224434204	.	C	CGGA,CGGAGGAGGA	5424.84	.	AC=12,1;AF=0.286,0.024;AN=42;BaseQRankSum=0.270;DP=500;ExcessHet=11.8493;FS=0.000;InbreedingCoeff=-0.4485;MLEAC=12,1;MLEAF=0.286,0.024;MQ=60.00;MQRankSum=0.00;QD=18.97;ReadPosRankSum=-1.880e-01;SOR=0.714	GT:AD:DP:GQ:PL	0/1:6,7,0:13:99:274,0,231,292,252,544	8	0	12	0
chr1	225399269	225399269	A	T	exonic	DNAH14	.	stoploss	DNAH14:NM_001367479:exon86:c.A13854T:p.X4618Y,	.	.	446	1055	19	2	0	23	0.0107829	.	.	2816106	not_provided|DNAH14-related_disorder	MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.000	D	.	.	.	.	.	.	.	.	.	1.830	12.08	3.25	0.849	1.844	7.546	.	.	0.0088	0.00199681	0.0080	0.0010	0.0110	0	0.0043	0.0100	0.0169	0.0086	0.0021863	338	154602	rs41305733	0.0082	0.0079	0.0080	0.0083	0.0095	0.0080	0.0080	0.0090	0.0090	0.0014	0.0033	0.0024	5.601e-05	0.0049	0.0095	0.0092	0.0074	0.0068	0.0064	0.0064	0.0066	0.0062	0.0101	0.0060	0.0059	0.0094	0.0092	0.0015	0.0230	0.0055	0.0029	0	0.0062	0.0034	0.0101	0.0052	0.0066	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.999999	0.08975	N	.	.	.	.	.	.	.	.	.	0.159	0.16586	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.2275	0.16981	T	-0.0891767	0.64224	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.	.;.;.	0.245676	0.06257	2.709	0.77826113864670554	0.12038	0.85190	0.44301	D	AEFDBI	.	.	.	-0.120048347955809	0.36520	2.11208	-0.146601085914856	0.33539	1.919571	0.282508983074451	0.19002	0.106106	0.02776	0	0.105846	0.03286	0	0.083675	0.02720	0	0.09929	0.02979	0	0.224045	0.31500	4.38	3.25	0.36363	1.885000	0.39312	5.840000	0.50240	0.674000	0.70861	0.998000	0.41325	1.000000	0.68203	0.149000	0.20271	0.8996:0.0:0.1004:0.0	7.546	0.26936	634	0.64659	.;.;.	DNAH14	Cells_Cultured_fibroblasts	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	2060.11	35	chr1	225399269	.	A	T	2060.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-2.960e-01;DP=880;ExcessHet=0.1072;FS=3.517;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=14.41;ReadPosRankSum=-2.740e-01;SOR=1.090	GT:AD:DP:GQ:PL	0/1:30,29:59:99:835,0,798	19	0	2	0
chr1	225514708	225514708	G	A	exonic	ENAH	.	nonsynonymous SNV	ENAH:NM_001377483:exon6:c.C995T:p.A332V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	0.997	D	0.97	D	0.003	N	1.000	D	1.995	M	1.96	T	0.348	D	0.643	D	0.677	4.366	23.0	5.21	2.430	8.082	18.735	0.233	0.112320486811	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	2.797e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	0.55530	D	0.048	0.50514	D	0.997	0.70673	D	0.97	0.72226	D	0.003271	0.35183	N	0.226742	0.999596	0.58761	D	2.275	0.64647	M	-0.04	0.63240	T	-1.67	0.39887	N	0.63	0.64393	0.348	0.88309	D	0.643	0.87528	D	10	0.4695522	0.59778	T	0.11232	0.79042	D	0.233	0.53499	0.104	0.01698	0.612357999405	0.60923	0.16674359625552354	0.16594	0.92458102789	0.71591	0.674778223038	0.63520	T	0.277514	0.65013	T	0.133822	0.67732	D	-0.0455502	0.67325	D	0.946237564086914	0.62427	D	0.848015	0.53747	T	0.17252353	0.37948	0.16418302	0.38047	0.17252353	0.37948	0.16418302	0.38046	-10.699	0.78566	D	.	.	0.227	0.48510	B	.;.;.	.;.;.	4.298915	0.65622	24.9	0.99888774019022097	0.96359	0.99573	0.97585	D	AEFDBI	0.882683	0.81099	D	0.729987147899231	0.81600	7.559994	0.719044094803892	0.83827	8.124527	0.999999999997317	0.74766	0.651	0.46895	0	0.59043	0.45803	0	0.693117	0.63056	0	0.683762	0.67416	0	.	.	5.21	5.21	0.72005	8.455000	0.90207	11.320000	0.92525	0.614000	0.49286	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:0.0:1.0:0.0	18.735	0.91713	679	0.60090	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.4118	1135.81	96	chr1	225514708	.	G	A,C	1135.81	.	AC=12,2;AF=0.353,0.059;AN=34;BaseQRankSum=-2.271e+00;DP=1826;ExcessHet=14.4320;FS=241.820;InbreedingCoeff=-0.6100;MLEAC=13,2;MLEAF=0.382,0.059;MQ=60.00;MQRankSum=0.00;QD=0.87;ReadPosRankSum=0.733;SOR=12.218	GT:AD:DP:GQ:PL	0/1:64,31,0:95:99:99,0,1080,277,1160,1438	3	0	12	4
chr1	225514708	225514708	G	C	exonic	ENAH	.	nonsynonymous SNV	ENAH:NM_001377483:exon6:c.C995G:p.A332G	.	.	425	1069	28	0	0	28	0.0129271	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.24	T	0.994	D	0.97	D	0.003	N	1.000	D	2.545	M	1.97	T	0.305	D	0.679	D	0.661	4.523	24.4	5.21	2.430	8.082	18.735	0.251	0.134379640135	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0.0006	0.0002	0.0001	0.0002	0.0002	0.0001	0.0002	0.0002	9.689e-05	2.258e-05	3.953e-05	2.59e-05	0	0	0.0002	0.0001	7.146e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.037	0.43085	D	0.183	0.39340	T	0.994	0.66517	D	0.97	0.72226	D	0.003271	0.35183	N	0.226742	0.999496	0.58761	D	2.62	0.76659	M	-0.04	0.63240	T	-1.88	0.43906	N	0.603	0.62950	0.305	0.87637	D	0.679	0.88907	D	10	0.44018695	0.58051	T	0.13438	0.81681	D	0.251	0.56024	0.122	0.02867	0.652436559791	0.64954	0.11579549220610402	0.11507	0.929717523318	0.71774	0.644413113594	0.59191	T	0.218669	0.58146	T	0.124294	0.66801	D	-0.0592364	0.66386	T	0.932058036327362	0.59784	D	0.871513	0.63166	D	0.18916725	0.40447	0.18597509	0.41743	0.18916725	0.40446	0.18597509	0.41742	-9.88	0.74330	D	.	.	0.252	0.51900	B	.;.;.	.;.;.	4.037834	0.59751	24.1	0.99785765454140729	0.87219	0.99631	0.98164	D	AEFDBI	0.890935	0.82643	D	0.742122182897517	0.82390	7.750937	0.716777429846324	0.83653	8.078442	0.999999999997317	0.74766	0.651	0.46895	0	0.59043	0.45803	0	0.693117	0.63056	0	0.683762	0.67416	0	.	.	5.21	5.21	0.72005	8.455000	0.90207	11.320000	0.92525	0.614000	0.49286	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:0.0:1.0:0.0	18.735	0.91713	679	0.60090	.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4118	1135.81	96	chr1	225514708	.	G	A,C	1135.81	.	AC=12,2;AF=0.353,0.059;AN=34;BaseQRankSum=-2.271e+00;DP=1826;ExcessHet=14.4320;FS=241.820;InbreedingCoeff=-0.6100;MLEAC=13,2;MLEAF=0.382,0.059;MQ=60.00;MQRankSum=0.00;QD=0.87;ReadPosRankSum=0.733;SOR=12.218	GT:AD:DP:GQ:PL	0/1:64,31,0:95:99:99,0,1080,277,1160,1438	3	0	12	4
chr1	230357055	230357055	C	T	exonic	PGBD5	.	nonsynonymous SNV	PGBD5:NM_001258311:exon2:c.G598A:p.A200T,	.	.	429	1057	36	0	0	36	0.0167442	.	.	696566	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.18	T	1.0	D	0.999	D	0.000	D	1.000	D	0.805	L	2.25	T	-1.157	T	0.060	T	0.937	5.497	35	6.03	2.861	5.953	20.557	0.358	.	0.0045	0.00698882	0.0068	0.0008	0.0033	0	0.0065	0.0058	0.0088	0.0205	0.0063259	978	154602	rs41315609	0.0063	0.0063	0.0058	0.0069	0.0208	0.0062	0.0062	0.0200	0.0196	0.0009	0.0029	0.0030	2.519e-05	0.0076	0.0132	0.0058	0.0057	0.0208	0.0052	0.0052	0.0048	0.0056	0.0203	0.0049	0.0048	0.0171	0.0159	0.0011	0.0088	0.0041	0.0017	0.0006	0.0072	0.0136	0.0070	0.0033	0.0203	0.019	0.50132	D	0.0	0.92824	D	.	.	.	.	.	.	0.000000	0.84330	D	0.000000	1	0.81001	D	0.895	0.22405	L	2.25	0.17761	T	-1.97	0.45587	N	0.819	0.81459	-1.1567	0.00839	T	0.060	0.25237	T	10	0.008564383	0.00194	T	.	.	.	0.358	0.67872	.	.	0.198526703765	0.19489	0.6185808216366527	0.61791	1.03234423226	0.75462	0.636188805103	0.58023	T	.	.	.	-0.140888	0.29750	T	0.0292734	0.72232	D	0.0248253129137804	0.01249	T	0.925008	0.72455	D	0.43868607	0.63317	0.5046682	0.71369	0.43868607	0.63318	0.5046682	0.71369	-7.423	0.57066	T	.	.	0.175	0.52102	B	.;.	.;.	4.125597	0.61694	24.4	0.99934615814858752	0.99535	0.98341	0.81803	D	AEFBI	0.851227	0.76807	D	0.541228674228767	0.69549	5.372841	0.552156647955467	0.71547	5.671552	0.999999999999823	0.74766	0.833774	0.99917	0	0.59043	0.45803	0	0.0	0.00061	3	0.613276	0.41899	0	.	.	6.03	6.03	0.97798	6.034000	0.70575	7.554000	0.60334	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.738000	0.35369	0.0:1.0:0.0:0.0	20.557	0.99307	835	0.38313	PiggyBac transposable element-derived protein;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	4017.11	33	chr1	230357055	.	C	T	4017.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.04;DP=1007;ExcessHet=0.1072;FS=5.781;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=12.21;ReadPosRankSum=-1.461e+00;SOR=0.991	GT:AD:DP:GQ:PL	0/1:92,80:172:99:2078,0,2444	19	0	2	0
chr1	236595551	236595551	T	C	exonic	HEATR1	.	nonsynonymous SNV	HEATR1:NM_018072:exon8:c.A1079G:p.H360R,	.	.	428	1081	13	0	0	13	0.00597701	.	.	732292	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.59	T	0.001	B	0.001	B	0.070	N	1.000	N	0.55	N	3.6	T	-1.033	T	0.114	T	0.075	-1.034	0.214	2.66	0.390	0.229	9.088	0.013	.	0.0023	0.00459265	0.0047	0.0007	0.0010	0.0005	0.0076	0.0043	0.0078	0.0121	0.0043078	666	154602	rs149968331	0.0038	0.0039	0.0036	0.0041	0.0103	0.0038	0.0037	0.0098	0.0095	0.0005	0.0008	0.0012	0.0003	0.0065	0.0038	0.0036	0.0038	0.0103	0.0031	0.0031	0.0030	0.0032	0.0116	0.0029	0.0028	0.0092	0.0083	0.0006	0	0.0007	0.0009	0.0002	0.0061	0	0.0045	0.0024	0.0116	0.522	0.07211	T	0.724	0.05274	T	0.001	0.07471	B	0.001	0.04355	B	0.069711	0.21588	N	0.515771	1	0.08975	N	1.355	0.33814	L	3.6	0.65006	T	-0.03	0.07444	N	0.054	0.06322	-1.0331	0.19459	T	0.114	0.40536	T	10	0.0029285252	0.00047	T	.	.	.	0.013	0.01715	.	.	0.354648800996	0.35079	0.17325651060770392	0.17245	0.114739544622	0.12943	0.277621328831	0.07163	T	0.003	0.02196	T	-0.568947	0.00225	T	-0.580634	0.14487	T	0.00147879802912921	0.00015	T	0.573543	0.20808	T	0.019498333	0.00482	0.03531078	0.02758	0.019498333	0.00482	0.03531078	0.02758	-4.136	0.25819	T	.	.	0.059	0.01075	B	.;.	.;.	0.416863	0.07875	4.577	0.23157972507023758	0.00966	0.10015	0.15635	N	AEFBI	0.039491	0.05742	N	-0.888746877124659	0.11109	0.5343691	-0.823336834505006	0.13930	0.725281	0.143877173613143	0.17323	0.706548	0.73137	0	0.708844	0.79440	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.98	2.66	0.30672	0.196000	0.16979	-0.152000	0.11409	0.609000	0.47794	0.000000	0.06391	0.610000	0.25763	0.947000	0.49155	0.0:0.1502:0.0:0.8498	9.088	0.35757	934	0.15400	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	1851.11	34	chr1	236595551	.	T	C	1851.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-2.620e-01;DP=798;ExcessHet=0.1072;FS=0.634;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=12.51;ReadPosRankSum=0.953;SOR=0.796	GT:AD:DP:GQ:PL	0/1:40,38:78:99:974,0,1036	19	0	2	0
chr1	240207634	240207634	G	0	exonic	FMN2	.	.	.	Mental retardation, autosomal recessive 47, Autosomal recessive	.	1	144	3	1	77	82	0.0170648	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	10864.06	96	chr1	240207634	.	G	C,*	10864.06	.	AC=9,1;AF=0.225,0.025;AN=40;BaseQRankSum=0.439;DP=1592;ExcessHet=1.5138;FS=0.581;InbreedingCoeff=-0.0794;MLEAC=9,1;MLEAF=0.225,0.025;MQ=59.94;MQRankSum=0.00;QD=12.25;ReadPosRankSum=-1.210e-01;SOR=0.625	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:58,58,0:116:99:0|1:240207634_G_C:2153,0,2215,1306,2420,3740:240207634	11	1	7	1
chr1	240207641	240207641	T	0	exonic	FMN2	.	.	.	Mental retardation, autosomal recessive 47, Autosomal recessive	.	570	612	17	0	323	340	0.0136986	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2857	12956.77	99	chr1	240207641	.	T	C,*	12956.77	.	AC=10,2;AF=0.238,0.048;AN=42;BaseQRankSum=0.528;DP=1591;ExcessHet=3.2961;FS=0.558;InbreedingCoeff=-0.1667;MLEAC=10,2;MLEAF=0.238,0.048;MQ=59.90;MQRankSum=0.00;QD=12.64;ReadPosRankSum=0.299;SOR=0.600	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:58,58,0:116:99:0|1:240207634_G_C:2153,0,2235,1313,2446,3806:240207634	10	1	8	0
chr1	240207812	240207812	G	0	exonic	FMN2	.	.	.	Mental retardation, autosomal recessive 47, Autosomal recessive	.	1181	328	2	3	8	16	0.0120482	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3611	5214.49	31	chr1	240207812	.	G	T,A,*	5214.49	.	AC=11,3,1;AF=0.306,0.083,0.028;AN=36;BaseQRankSum=0.227;DP=776;ExcessHet=1.2994;FS=0.000;InbreedingCoeff=0.0004;MLEAC=12,3,1;MLEAF=0.333,0.083,0.028;MQ=50.73;MQRankSum=1.59;QD=13.61;ReadPosRankSum=-1.507e+00;SOR=0.674	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:17,12,0,0:29:99:0|1:240207812_G_T:308,0,585,359,619,978,359,619,978,978:240207812	6	1	7	3
chr1	240208056	240208056	G	A	exonic	FMN2	.	nonsynonymous SNV	FMN2:NM_020066:exon5:c.G3244A:p.G1082R	Mental retardation, autosomal recessive 47, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.993	D	0.772	P	0.038	N	0.999	N	3.1	M	-0.29	T	-0.409	T	0.446	T	0.283	0.800	8.209	2.97	1.661	1.789	12.155	0.296	0.181914651443	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.571e-06	5.45e-06	0	1.204e-05	1.135e-05	1.75e-06	4.9e-07	3.02e-06	8.4e-07	0	0	0	0	0	0	1.135e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.005	0.63226	D	0.09	0.40267	T	0.993	0.65571	D	0.772	0.56930	P	0.038251	0.24307	N	0.270551	1	0.08975	N	2.875	0.83380	M	-0.29	0.67712	T	-1.64	0.39314	N	0.362	0.40364	-0.4094	0.71730	T	0.446	0.78221	T	9	0.42783064	0.57292	T	0.181915	0.85586	D	0.296	0.61616	0.588	0.71623	0.648736161131	0.64582	0.12278970421277702	0.12204	0.109930693764	0.12392	0.704009354115	0.67724	T	0.078821	0.35982	T	-0.0667958	0.41838	T	-0.333724	0.41053	T	0.760130941867828	0.43858	D	0.772323	0.40326	T	0.13812384	0.31956	0.16576494	0.38331	0.13812384	0.31956	0.16576494	0.38330	-11.201	0.80748	D	.	.	0.575	0.67831	P	.	.	2.493697	0.32177	18.96	0.71799313138384702	0.09752	0.25948	0.22850	N	AEFI	0.066433	0.13009	N	0.0128267983753784	0.42438	2.556984	-0.235445548881699	0.30276	1.703281	0.0295138572712271	0.13891	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.620846	0.47308	0	.	.	2.97	2.97	0.33479	1.528000	0.35592	0.000000	0.13247	0.482000	0.22156	0.067000	0.21986	0.296000	0.24193	0.001000	0.02609	0.0:0.0:1.0:0.0	12.155	0.53375	976	0.04745	Formin Homology 1|Formin, FH2 domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	148.98	20	chr1	240208056	.	G	A	148.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.700e-01;DP=458;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0245;MLEAC=1;MLEAF=0.024;MQ=54.24;MQRankSum=2.19;QD=7.09;ReadPosRankSum=0.463;SOR=0.892	GT:AD:DP:GQ:PL	0/1:12,9:21:99:163,0,221	20	0	1	0
chr1	247425078	247425078	C	G	exonic	NLRP3	.	nonsynonymous SNV	NLRP3:NM_001127461:exon4:c.C1629G:p.N543K	CINCA syndrome, Autosomal dominant;Familial cold-induced inflammatory syndrome 1, Autosomal dominant;Muckle-Wells syndrome, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.33	T	0.017	B	0.011	B	0.150	N	1.000	N	0.345	N	-2.88	D	-0.510	T	0.510	D	0.194	-2.247	0.004	-1.1	-0.211	-0.493	3.616	0.198	0.0463631286806	.	.	1.653e-05	0	0	0	0	0	0	0.0001	1.29e-05	2	154602	rs376057645	4.104e-06	4.104e-06	2.722e-06	5.5e-06	5.797e-05	1.48e-06	9.7e-07	2.194e-05	1.43e-05	0	0	0	0	0	0	8.993e-07	0	5.797e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.408	0.12345	T	1.0	0.01155	T	0.014	0.17573	B	0.011	0.15521	B	0.149887	0.02954	N	1.643560	1	0.08975	N	.	.	.	-2.88	0.91533	D	-0.88	0.27463	N	0.062	0.04547	-0.5098	0.68294	T	0.510	0.81580	D	10	0.08747858	0.14971	T	0.046363	0.62424	D	0.198	0.48105	0.385	0.40460	0.933406561394	0.93271	0.2683728803933602	0.26750	0.528334658699	0.50426	0.320745438337	0.13535	T	0.175223	0.52473	T	-0.239784	0.15375	T	-0.379555	0.35774	T	0.0442914664745331	0.04474	T	0.465553	0.13627	T	0.080931626	0.18571	0.045592602	0.06169	0.080931626	0.18570	0.045592602	0.06168	-2.973	0.09893	T	.	.	0.082	0.12228	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	-1.088085	0.00655	0.018	0.35121140674622975	0.02187	0.04589	0.10240	N	AEFBCI	0.124040	0.23992	N	-1.47191414200669	0.02050	0.09012462	-1.51110450862655	0.02258	0.1035872	0.991353819625916	0.32460	0.554377	0.28877	0	0.546412	0.12157	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	3.33	-1.1	0.09367	-1.579000	0.02227	.	.	-0.834000	0.02848	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.4383:0.1901:0.3716	3.616	0.07621	889	0.27310	.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	8343.98	215	chr1	247425078	.	C	G	8343.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.12;DP=1822;ExcessHet=0.0000;FS=1.722;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.00;ReadPosRankSum=-4.750e-01;SOR=0.647	GT:AD:DP:GQ:PL	0/1:313,329:642:99:8358,0,7395	20	0	1	0
chr1	248361672	248361672	A	0	exonic	OR2T4	.	.	.	.	.	444	759	27	2	290	321	0.0200129	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.375	3294.69	34	chr1	248361672	.	A	G,*	3294.69	.	AC=1,14;AF=0.025,0.350;AN=40;BaseQRankSum=-7.600e-01;DP=3320;ExcessHet=0.8717;FS=8.880;InbreedingCoeff=0.0286;MLEAC=1,14;MLEAF=0.025,0.350;MQ=60.00;MQRankSum=0.00;QD=1.30;ReadPosRankSum=0.556;SOR=0.441	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:213,0,61:274:99:.:.:1946,2588,11531,0,8944,8735	8	0	1	1
chr1	248574285	248574285	A	G	exonic	OR2T34	.	nonsynonymous SNV	OR2T34:NM_001001821:exon1:c.T473C:p.M158T,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08	T	0.131	B	0.145	B	.	.	1.000	N	-0.24	N	8.75	T	-1.082	T	0.000	T	0.044	0.621	7.342	-2.13	-0.841	-0.128	8.908	0.023	0.000521159305134	.	.	1.724e-05	0	0	0	0	0	0	0.0001	3.84e-05	1	26028	rs773346298	3.441e-06	9.578e-06	1.37e-06	5.53e-06	5.803e-05	1.01e-06	7.3e-07	2.196e-05	1.431e-05	0	0	0	0	0	0	0	0	5.803e-05	0	1.32e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.034	0.44029	D	0.119	0.36101	T	0.131	0.27154	B	0.145	0.33871	B	.	.	.	.	1	0.08975	N	-0.22	0.03977	N	8.75	0.00077	T	0.51	0.02898	N	0.055	0.02658	-1.0822	0.06927	T	0.000	0.00075	T	9	0.058273822	0.06825	T	5.21E-4	0.00174	T	0.023	0.04649	0.463	0.53242	0.161926535498	0.15789	0.1896787170838193	0.18885	.	.	0.45932072401	0.33217	T	9.7E-5	0.00009	T	-0.512911	0.00483	T	-0.79301	0.02083	T	0.0866975057303239	0.10822	T	0.257774	0.04077	T	0.07323875	0.16351	0.09678552	0.23011	0.07323875	0.16350	0.09678552	0.23010	-2.719	0.07464	T	.	.	0.086	0.10931	B	.	.	0.086053	0.04908	1.488	0.69905946783156081	0.09122	0.01315	0.04551	N	AEFGI	0.020277	0.00785	N	-1.20297673264271	0.04956	0.224839	-1.28809963935539	0.04591	0.2168932	7.74582224389176E-6	0.01202	0.615465	0.37627	0	0.633656	0.55848	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	2.34	-2.13	0.06745	0.244000	0.17899	-15.654000	0.00347	-0.331000	0.05774	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.3679:0.0:0.6321:0.0	8.908	0.34696	982	0.03397	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1465.98	67	chr1	248574285	.	A	G	1465.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.560e+00;DP=2181;ExcessHet=0.0000;FS=7.160;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=39.89;MQRankSum=-2.231e+00;QD=8.19;ReadPosRankSum=0.084;SOR=0.336	GT:AD:DP:GQ:PL	0/1:122,57:179:99:1480,0,4193	20	0	1	0
chr1	248638325	248638325	G	T	exonic	OR2T35	.	nonsynonymous SNV	OR2T35:NM_001001827:exon1:c.C934A:p.Q312K,	.	.	448	1067	5	2	0	9	0.00419972	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.0	B	0.003	B	0.405	N	1.000	N	0.205	N	1.28	T	-0.995	T	0.029	T	0.065	0.013	4.081	-4.28	-1.436	-0.664	2.792	0.015	0.000651785031621	.	.	.	.	.	.	.	.	.	.	.	.	.	rs773478284	0.0008	0.0005	0.0007	0.0008	0.0029	0.0007	0.0007	0.0017	0.0015	7.549e-05	0.0003	0	0	3.975e-05	0.0029	0.0008	0.0013	0.0018	0.0006	0.0006	0.0007	0.0005	0.0016	0.0005	0.0005	0.0008	0.0007	0.0002	0	0.0005	0	0	0	0	0.0010	0.0006	0.0016	0.224	0.18691	T	0.715	0.05434	T	0.0	0.02946	B	0.003	0.08700	B	0.405105	0.13072	N	0.663946	1	0.08975	N	0.155	0.08919	N	1.28	0.35960	T	-0.3	0.11913	N	0.142	0.14196	-0.9946	0.31405	T	0.029	0.12234	T	10	0.046363443	0.03818	T	6.52E-4	0.00350	T	0.015	0.02232	.	.	0.351146185902	0.34720	0.10346781363592959	0.10276	1.95920376204	0.93432	0.353717148304	0.18468	T	0.002057	0.01461	T	-0.353512	0.04510	T	-0.745572	0.03661	T	0.0677950714799263	0.08339	T	0.342966	0.07460	T	0.05353292	0.10144	0.044990294	0.05953	0.05353292	0.10144	0.044990294	0.05953	-4.112	0.25467	T	.	.	0.081	0.08417	B	.;.	.;.	-0.469683	0.01966	0.170	0.35780286028575425	0.02265	0.00643	0.02809	N	AEFI	0.027572	0.02277	N	-1.74467045494547	0.00695	0.0300075	-1.82722822433919	0.00676	0.0300648	1.39872963777933E-5	0.02871	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	2.14	-4.28	0.03475	-1.465000	0.02463	-2.347000	0.03869	0.309000	0.19094	0.000000	0.06391	0.000000	0.08366	0.016000	0.10718	0.0975:0.1411:0.3308:0.4306	2.792	0.05060	988	0.01987	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1830.98	143	chr1	248638325	.	G	T	1830.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.11;DP=2442;ExcessHet=0.0000;FS=14.128;InbreedingCoeff=-0.0245;MLEAC=1;MLEAF=0.024;MQ=49.00;MQRankSum=0.971;QD=11.52;ReadPosRankSum=0.495;SOR=1.343	GT:AD:DP:GQ:PL	0/1:87,72:159:99:1845,0,2308	20	0	1	0
chr2	9297357	9297357	G	A	exonic	ASAP2	.	nonsynonymous SNV	ASAP2:NM_001135191:exon3:c.G257A:p.C86Y	.	.	436	1084	2	0	0	2	0.000921659	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.996	D	0.944	D	0.364	N	1.000	D	1.01	L	3.65	T	-1.069	T	0.029	T	0.819	1.273	10.16	5.5	2.573	4.753	19.386	0.197	0.00880189519163	.	0.000798722	9.061e-05	0	8.64e-05	0	0	2.997e-05	0	0.0005	9.7e-05	15	154602	rs548555308	1.573e-05	1.573e-05	6.806e-06	2.475e-05	0.0001	1.048e-05	8.75e-06	7.123e-05	5.481e-05	0	4.472e-05	0	0	0	0	6.295e-06	4.967e-05	0.0001	2.626e-05	2.624e-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	1.0	0.00964	T	1.0	0.01155	T	0.996	0.68779	D	0.944	0.68059	D	0.363514	0.13634	N	0.757041	0.999996	0.58761	D	0.35	0.11930	N	3.65	0.04267	T	-0.78	0.32791	N	0.319	0.37301	-1.0694	0.09545	T	0.029	0.12278	T	10	0.02712652	0.00864	T	0.008802	0.23221	T	0.197	0.47942	0.484	0.56621	0.704663589556	0.70209	0.8119494874049155	0.81150	1.52778703191	0.87532	0.817018866539	0.84571	D	0.036353	0.24069	T	-0.18834	0.22501	T	-0.212122	0.53493	T	0.0779964402071245	0.09728	T	0.921608	0.71541	D	0.18750057	0.40207	0.23806255	0.49119	0.18750057	0.40206	0.23806255	0.49118	-6.525	0.50800	T	.	.	0.730	0.74194	P	.;.	.;.	4.452875	0.69239	25.3	0.93592856262809176	0.23446	0.94345	0.60869	D	AEFDGBIJ	0.732586	0.67929	D	0.112290840096675	0.47035	2.934982	0.250110359549614	0.52656	3.438985	0.999999999455897	0.74766	0.706298	0.61202	0	0.627178	0.54094	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.5	5.5	0.81386	4.130000	0.57720	11.782000	0.96139	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.949000	0.49496	0.0:0.0:1.0:0.0	19.386	0.94545	929	0.16858	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1186.98	34	chr2	9297357	.	G	A	1186.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.489e+00;DP=838;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.50;ReadPosRankSum=0.864;SOR=0.736	GT:AD:DP:GQ:PL	0/1:61,52:113:99:1201,0,1585	20	0	1	0
chr2	20667365	20667365	-	GGCGGCGGC	exonic	GDF7	.	nonframeshift insertion	GDF7:NM_182828:exon1:c.126_127insGGCGGCGGC:p.G50_R51insGGG,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6818	3157.26	2	chr2	20667362	.	GGGC	GGGCGGCGGCGGC,GGGCGGCGGCGGCGGCGGCGGC,G	3157.26	.	AC=11,3,2;AF=0.500,0.136,0.091;AN=22;DP=140;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=0.6169;MLEAC=18,5,2;MLEAF=0.818,0.227,0.091;MQ=60.00;QD=28.56;SOR=0.766	GT:AD:DP:GQ:PL	1/1:0,3,0,0:3:9:135,9,0,135,9,135,135,9,135,135	3	5	0	10
chr2	20667365	20667365	-	GGCGGCGGCGGCGGCGGC	exonic	GDF7	.	nonframeshift insertion	GDF7:NM_182828:exon1:c.126_127insGGCGGCGGCGGCGGCGGC:p.G50_R51insGGGGGG,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6818	3157.26	2	chr2	20667362	.	GGGC	GGGCGGCGGCGGC,GGGCGGCGGCGGCGGCGGCGGC,G	3157.26	.	AC=11,3,2;AF=0.500,0.136,0.091;AN=22;DP=140;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=0.6169;MLEAC=18,5,2;MLEAF=0.818,0.227,0.091;MQ=60.00;QD=28.56;SOR=0.766	GT:AD:DP:GQ:PL	1/1:0,3,0,0:3:9:135,9,0,135,9,135,135,9,135,135	3	5	0	10
chr2	27035982	27035982	A	C	exonic	TMEM214	.	nonsynonymous SNV	TMEM214:NM_001083590:exon4:c.A515C:p.H172P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	T	0.999	D	0.989	D	0.000	D	1.000	D	2.135	M	0.66	T	-0.596	T	0.286	T	0.964	4.463	23.8	5.67	2.163	8.864	15.585	0.635	0.0419105324386	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009	0.72154	D	0.0	0.92824	D	0.997	0.77913	D	0.98	0.78396	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.77	0.80896	M	0.66	0.52416	T	-3.79	0.71639	D	0.928	0.93252	-0.5955	0.65000	T	0.286	0.65802	T	10	0.90457904	0.89822	D	0.041911	0.60185	D	0.635	0.86027	0.702	0.83869	0.719281843152	0.71680	0.8655625069595365	0.86521	0.682033757252	0.60087	0.664357304573	0.62032	T	0.158444	0.50147	T	0.308341	0.83617	D	0.205134	0.83404	D	0.988833168034224	0.79119	D	0.90211	0.66975	D	0.7591854	0.81405	0.76905036	0.86362	0.7591854	0.81406	0.76905036	0.86363	-5.778	0.48141	T	.	.	0.460	0.66424	A	.;.	.;.	4.790330	0.77735	26.8	0.98835711349387345	0.47035	0.99178	0.92379	D	AEFBCI	0.976457	0.99674	D	0.733338177786756	0.81819	7.612076	0.714480067190238	0.83479	8.032118	0.999999999997233	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.711	0.71501	0	.	.	5.67	5.67	0.87673	8.366000	0.90006	11.215000	0.89546	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.945000	0.48827	1.0:0.0:0.0:0.0	15.585	0.76222	441	0.80015	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1514.98	34	chr2	27035982	.	A	C	1514.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-8.420e-01;DP=869;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.31;ReadPosRankSum=0.261;SOR=0.693	GT:AD:DP:GQ:PL	0/1:70,64:134:99:1529,0,1811	20	0	1	0
chr2	28241340	28241340	A	C	exonic	BABAM2	.	nonsynonymous SNV	BABAM2:NM_001261840:exon9:c.A798C:p.Q266H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.995	D	0.989	D	0.000	D	1.000	D	1.445	L	.	.	-0.665	T	0.263	T	0.734	3.171	16.61	-0.522	-0.084	1.694	10.768	0.348	0.0084486016277	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1261314443	8.209e-06	8.209e-06	1.089e-05	5.501e-06	9.893e-06	4.38e-06	3.46e-06	5.31e-06	3.88e-06	0	0	0	0	0	0	9.893e-06	1.656e-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	0.007	0.61437	D	0.013	0.63109	D	0.995	0.67487	D	0.989	0.78396	D	0.000000	0.84330	D	0.000000	0.999976	0.53665	D	.	.	.	.	.	.	-2.11	0.48020	N	0.818	0.81360	-0.6649	0.62059	T	0.263	0.63383	T	9	0.79867935	0.79303	D	0.008449	0.22357	T	0.348	0.66956	0.747	0.87821	0.469989170139	0.46626	0.6076074279087035	0.60692	1.01655600975	0.74972	0.770998001099	0.77575	T	0.146167	0.48364	T	0.13773	0.68108	D	-0.0399372	0.67705	D	0.606719482630829	0.36668	D	0.935306	0.75965	D	0.34136778	0.56388	0.21109742	0.45523	0.34136778	0.56388	0.21109742	0.45522	-5.601	0.42801	T	.	.	0.627	0.69987	P	.;.;.;.;.	.;.;.;.;.	3.319792	0.45653	22.2	0.99651772532913796	0.77317	0.92238	0.55254	D	AEFI	0.506828	0.53739	D	0.0541909668521106	0.44335	2.709491	-0.0129300759972159	0.39129	2.315467	0.546303419590996	0.21296	0.706298	0.61202	0	0.709663	0.81188	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	5.83	-0.522	0.11332	1.805000	0.38520	2.298000	0.32000	-0.142000	0.12367	1.000000	0.71638	1.000000	0.68203	0.985000	0.61073	0.5035:0.0:0.4965:0.0	10.768	0.45508	176	0.93188	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1180.98	37	chr2	28241340	.	A	C	1180.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-9.140e-01;DP=839;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.68;ReadPosRankSum=-7.490e-01;SOR=0.666	GT:AD:DP:GQ:PL	0/1:67,55:122:99:1195,0,1607	20	0	1	0
chr2	32429212	32429212	T	G	exonic	BIRC6	.	nonsynonymous SNV	BIRC6:NM_001378125:exon11:c.T2855G:p.V952G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.596	P	0.137	B	0.000	D	1.000	D	1.525	L	-0.87	T	-0.439	T	0.282	T	0.682	2.907	15.69	4.76	1.901	5.894	14.570	0.480	0.0475456823883	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.034	0.44029	D	0.011	0.64786	D	.	.	.	.	.	.	0.000053	0.53742	D	0.075288	1	0.81001	D	.	.	.	-0.87	0.74583	T	-2.13	0.48354	N	0.354	0.39558	-0.4388	0.70770	T	0.282	0.65399	T	10	0.29624084	0.47190	T	0.047546	0.62970	D	0.480	0.77077	0.386	0.40624	0.804443288802	0.80261	0.6978224111081791	0.69723	0.441022210684	0.44097	0.646987318993	0.59557	T	.	.	.	0.127836	0.67149	D	-0.0541495	0.66737	D	0.897455751895905	0.54937	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.335	0.55597	B	.	.	3.615243	0.51130	23.1	0.99062762525367654	0.51528	0.97493	0.75105	D	AEFGBI	0.688407	0.64942	D	0.229917418270097	0.52654	3.438208	0.319220305462388	0.56668	3.830694	0.999999586592414	0.74766	0.651	0.46895	0	0.708844	0.79440	0	0.658983	0.55881	0	0.655142	0.61905	0	.	.	4.76	4.76	0.60189	5.852000	0.69220	5.030000	0.46819	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:0.0:1.0	14.570	0.67798	303	0.87825	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	337.98	35	chr2	32429212	.	T	G	337.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.570e-01;DP=692;ExcessHet=0.0000;FS=1.219;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.45;ReadPosRankSum=0.718;SOR=0.941	GT:AD:DP:GQ:PL	0/1:24,16:40:99:352,0,626	20	0	1	0
chr2	36517452	36517452	G	A	exonic	CRIM1	.	nonsynonymous SNV	CRIM1:NM_016441:exon12:c.G2116A:p.G706R,	.	.	.	.	.	.	.	.	.	.	.	2679612	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.04	D	1.0	D	0.981	D	0.000	D	1.000	D	2.88	M	-0.74	T	0.307	D	0.603	D	0.892	4.538	24.5	4.68	1.353	9.552	13.357	0.728	0.139512985878	.	.	4.12e-05	0	0	0	0	2.998e-05	0	0.0002	3.88e-05	6	154602	rs778622025	3.215e-05	3.215e-05	2.995e-05	3.438e-05	0.0002	2.478e-05	2.22e-05	2.285e-05	2.022e-05	2.987e-05	2.236e-05	0	0	0	0.0002	3.148e-05	6.623e-05	5.797e-05	4.599e-05	4.596e-05	2.569e-05	6.724e-05	6.544e-05	2.109e-05	1.527e-05	1.972e-05	1.124e-05	0	0	6.544e-05	0	0	0	0	5.879e-05	0.0010	0	0.001	0.78490	D	0.003	0.76473	D	1.0	0.90584	D	0.981	0.75168	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.975	0.85398	M	-0.74	0.73205	T	-6.87	0.93175	D	0.932	0.93723	0.307	0.87671	D	0.603	0.85894	D	10	0.8833516	0.87653	D	0.139513	0.82199	D	0.728	0.90457	0.786	0.90919	0.794601164165	0.79268	0.8488526786576205	0.84847	0.956731851577	0.72846	0.816515088081	0.84493	D	0.358287	0.72487	T	0.232481	0.76953	D	0.298821	0.88143	D	0.93664276599884	0.60580	D	0.945605	0.82846	D	0.76677966	0.81855	0.66142726	0.80160	0.76677966	0.81857	0.66142726	0.80161	-11.884	0.84281	D	.	.	0.649	0.70893	P	.;.	.;.	5.604275	0.92480	32	0.99928357807709978	0.99222	0.96251	0.68232	D	AEFBHCI	0.941804	0.94558	D	0.837352312608743	0.88376	9.555418	0.771754965946132	0.87772	9.338477	0.999999999991586	0.74766	0.706548	0.73137	0	0.588015	0.36545	0	0.724815	0.87919	0	0.711	0.71501	0	.	.	5.56	4.68	0.58319	9.683000	0.97916	9.839000	0.81912	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.948000	0.49324	0.0752:0.0:0.9248:0.0	13.357	0.60073	919	0.19497	VWFC domain|VWFC domain|VWFC domain|VWFC domain;VWFC domain|VWFC domain|VWFC domain|VWFC domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2062.98	33	chr2	36517452	.	G	A	2062.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.15;DP=894;ExcessHet=0.0000;FS=2.468;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.26;ReadPosRankSum=-8.600e-02;SOR=0.527	GT:AD:DP:GQ:PL	0/1:119,82:201:99:2077,0,2953	20	0	1	0
chr2	47798646	47798646	A	C	exonic	MSH6	.	nonsynonymous SNV	MSH6:NM_001281492:exon2:c.A273C:p.E91D	Colorectal cancer, hereditary nonpolyposis, type 5, Autosomal dominant;Endometrial cancer, familial;Mismatch repair cancer syndrome, Autosomal recessive	YES	0	1516	6	0	0	6	0.00197498	.	.	95026	Breast_and/or_ovarian_cancer|Hereditary_cancer-predisposing_syndrome|not_specified|Carcinoma_of_colon|Abnormality_of_the_ovary|not_provided|Hereditary_nonpolyposis_colorectal_neoplasms|Lynch_syndrome_5|Hereditary_cancer	MedGen:CN221562|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MedGen:CN169374|MONDO:MONDO:0002032,MedGen:C0699790|Human_Phenotype_Ontology:HP:0000137,MONDO:MONDO:0005558,MedGen:C4021818|MedGen:C3661900|MeSH:D003123,MedGen:C0009405|MONDO:MONDO:0013710,MedGen:C1833477,OMIM:614350,Orphanet:144|MedGen:C1333600	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.16	T	0.884	P	0.268	B	0.704	N	1.000	D	1.52	L	0.16	T	-0.561	T	0.384	T	0.427	1.422	10.69	-0.723	-0.032	-0.302	4.968	0.316	0.0227959788225	0.0008	.	0.0006	0.0003	0.0002	0	0	0.0009	0	0.0007	0.0006015	93	154602	rs41557217	0.0008	0.0008	0.0007	0.0008	0.0012	0.0007	0.0007	0.0010	0.0010	5.974e-05	0.0005	0	0	5.756e-05	0.0007	0.0008	0.0005	0.0012	0.0006	0.0006	0.0006	0.0007	0.0009	0.0005	0.0005	0.0007	0.0007	0.0003	0	0.0009	0	0.0002	0	0.0068	0.0009	0.0009	0.0006	0.16	0.23721	T	0.425	0.92824	T	0.003	0.11197	B	0.002	0.06944	B	0.703756	0.10072	N	0.876699	0.998675	0.51612	D	1.59	0.40313	L	-1.92	0.85173	D	-0.87	0.26639	N	0.169	0.17966	-0.5613	0.66354	T	0.384	0.73966	T	10	0.031133354	0.01245	T	0.022796	0.45720	T	0.316	0.63799	0.092	0.01108	0.841943260456	0.84042	0.07321851081520586	0.07258	.	.	0.410471796989	0.26522	T	0.279066	0.65174	T	-0.286055	0.10034	T	-0.234116	0.51373	T	0.00678472511881113	0.00076	T	0.643236	0.29028	T	0.032249473	0.03216	0.04116448	0.04617	0.038520277	0.05146	0.049310256	0.07507	-3.545	0.22662	T	0.09027583960300532	0.05605	0.079	0.09772	B	.;.;.;.	.;.;.;.	0.944175	0.13202	9.701	0.98176351431738729	0.38907	0.73602	0.36002	D	AEFBCI	0.155883	0.28115	N	-0.495809778911639	0.22217	1.184772	-0.496778031112651	0.22242	1.20716	0.985806220003635	0.30952	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	4.27	-0.723	0.10617	-0.266000	0.08660	-0.416000	0.09315	0.756000	0.94297	0.000000	0.06391	0.000000	0.08366	0.997000	0.79791	0.4342:0.0:0.4134:0.1524	4.968	0.13447	903	0.23940	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	1	0	1	0	0.04762	5489.11	34	chr2	47798646	.	A	C	5489.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-1.234e+00;DP=1232;ExcessHet=0.1072;FS=1.725;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=11.70;ReadPosRankSum=0.744;SOR=0.572	GT:AD:DP:GQ:PL	0/1:111,122:233:99:2715,0,2877	19	0	2	0
chr2	61405958	61405958	G	C	exonic	USP34	.	nonsynonymous SNV	USP34:NM_014709:exon3:c.C302G:p.A101G,	.	.	433	1085	4	0	0	4	0.00183993	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.32	T	0.005	B	0.01	B	.	.	1.000	N	0	N	2.5	T	-0.957	T	0.018	T	0.083	0.857	8.467	1.45	-0.009	0.977	10.676	0.019	.	.	0.00339457	0.0012	0	0.0003	0	0	1.499e-05	0	0.0087	0.001119	173	154602	rs548813943	0.0006	0.0006	0.0003	0.0008	0.0090	0.0005	0.0005	0.0085	0.0083	2.987e-05	2.236e-05	0	0	0	0.0009	4.497e-06	0.0005	0.0090	0.0003	0.0003	0.0002	0.0004	0.0090	0.0002	0.0002	0.0069	0.0061	2.426e-05	0	0	0	0	0	0	1.473e-05	0	0.0090	0.372	0.11478	T	0.158	0.31629	T	0.005	0.12996	B	0.01	0.14941	B	.	.	.	.	0.999995	0.08975	N	0.345	0.11182	N	2.5	0.14408	T	-0.7	0.19933	N	0.085	0.06190	-0.9568	0.39771	T	0.018	0.07518	T	9	0.0020056665	0.00028	T	.	.	.	0.019	0.03383	0.107	0.01868	0.082315109003	0.07666	0.1498691076945297	0.14908	.	.	0.287823438644	0.08605	T	0.027369	0.20056	T	-0.656805	0.00066	T	-0.709125	0.05340	T	0.0079210060760515	0.00093	T	0.548745	0.18852	T	0.025172938	0.01426	0.05161495	0.08343	0.025172938	0.01425	0.05161495	0.08342	-3.362	0.14550	T	.	.	0.075	0.05491	B	.	.	0.562122	0.09308	6.088	0.91803187430162037	0.21109	0.64413	0.32399	D	AEFDGBHI	0.120762	0.23509	N	-0.878701023517203	0.11351	0.5472783	-0.750244207373109	0.15716	0.8279531	0.997565837088977	0.35763	0.732398	0.92422	0	0.743671	0.97443	0	0.658983	0.55881	0	0.727631	0.95156	0	.	.	6.17	1.45	0.21708	0.966000	0.28929	-0.280000	0.10277	-0.721000	0.03806	0.679000	0.28429	0.000000	0.08366	0.971000	0.54645	0.3009:0.0:0.6991:0.0	10.676	0.44982	152	0.94023	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1594.98	36	chr2	61405958	.	G	C	1594.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.830e-01;DP=827;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.90;ReadPosRankSum=0.027;SOR=0.749	GT:AD:DP:GQ:PL	0/1:65,69:134:99:1609,0,1491	20	0	1	0
chr2	71349738	71349738	A	G	exonic	ZNF638	.	nonsynonymous SNV	ZNF638:NM_001014972:exon2:c.A784G:p.M262V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.003	B	0.003	B	0.020	N	1.000	N	0.345	N	1.61	T	-0.996	T	0.110	T	0.122	-1.147	0.104	-0.803	-0.369	0.609	4.435	0.088	0.005152678126	0.0008	.	0.0002	0.0011	0	0.0003	0	0.0002	0	6.056e-05	0.000194	30	154602	rs141845828	7.388e-05	7.524e-05	8.303e-05	6.463e-05	0.0003	6.248e-05	5.807e-05	0.0002	0.0001	0.0003	8.944e-05	0	0.0002	0	0.0002	6.295e-05	0.0002	8.115e-05	0.0003	0.0003	0.0004	0.0002	0.0007	0.0002	0.0002	0.0005	0.0004	0.0007	0	0.0002	0	0.0002	0	0	0.0001	0.0009	0.0004	0.728	0.03834	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.019717	0.27197	N	0.445792	0.992187	0.23922	N	0.39	0.12200	N	1.61	0.28391	T	-0.5	0.15782	N	0.093	0.08366	-0.9963	0.30946	T	0.110	0.39604	T	10	0.011181802	0.00246	T	0.005153	0.13094	T	0.088	0.25558	.	.	0.043077524339	0.03247	0.2835251771554072	0.28265	0.0327732097126	0.03426	0.289790689945	0.08891	T	0.017061	0.13986	T	-0.55072	0.00289	T	-0.640552	0.09628	T	0.00270690503933975	0.00028	T	0.780422	0.41514	T	0.04241163	0.06427	0.045878794	0.06271	0.04241163	0.06427	0.045878794	0.06270	-2.156	0.03902	T	.	.	0.054	0.00573	B	.;.;.	.;.;.	0.538588	0.09072	5.855	0.6512794136955391	0.07685	0.30847	0.24187	N	AEFGBI	0.074644	0.14966	N	-0.931876204011314	0.10103	0.4812002	-0.758873985267318	0.15504	0.8157423	0.941487279407786	0.27479	0.67177	0.52595	0	0.697927	0.68747	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.84	-0.803	0.10336	0.584000	0.23565	.	.	-0.051000	0.17024	0.835000	0.30208	1.000000	0.68203	0.997000	0.79791	0.5127:0.0:0.3353:0.1521	4.435	0.10971	712	0.56465	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	2433.98	34	chr2	71349738	.	A	G	2433.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=4.13;DP=880;ExcessHet=0.0000;FS=1.854;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.60;ReadPosRankSum=0.628;SOR=0.880	GT:AD:DP:GQ:PL	0/1:96,83:179:99:2448,0,2507	20	0	1	0
chr2	71569911	71569911	A	T	exonic	DYSF	.	nonsynonymous SNV	DYSF:NM_001130976:exon26:c.A2860T:p.M954L	Miyoshi muscular dystrophy 1, Autosomal recessive;Muscular dystrophy, limb-girdle, type 2B, Autosomal recessive;Myopathy, distal, with anterior tibial onset, Autosomal recessive	YES	0	1520	2	0	0	2	0.000657462	.	.	193183	Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2B|DYSF-related_disorder|Miyoshi_muscular_dystrophy_1|Qualitative_or_quantitative_defects_of_dysferlin|Limb-girdle_muscular_dystrophy,_recessive|Miyoshi_myopathy|not_provided|Distal_myopathy_with_anterior_tibial_onset	MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601,Orphanet:268|.|MONDO:MONDO:0024545,MedGen:C4551973,OMIM:254130,Orphanet:45448|MONDO:MONDO:0016145,MedGen:C2931687,Orphanet:207073|MedGen:CN239352|MONDO:MONDO:0009685,MedGen:C5553104,OMIM:PS254130,Orphanet:45448|MedGen:C3661900|MONDO:MONDO:0011721,MedGen:C1847532,OMIM:606768,Orphanet:178400	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.13	T	0.365	B	0.142	B	0.000	D	0.536	D	1.5	L	-3.26	D	0.595	D	0.695	D	0.405	3.184	16.66	5.21	2.099	4.968	13.333	0.427	0.119357099406	0.0018	0.000399361	0.0015	0.0006	0.0003	0	0.0009	0.0023	0.0011	0.0011	0.0015394	238	154602	rs144636654	0.0019	0.0019	0.0019	0.0019	0.0023	0.0019	0.0018	0.0022	0.0022	0.0003	0.0004	0	0	0.0014	0.0002	0.0023	0.0011	0.0011	0.0011	0.0011	0.0012	0.0011	0.0021	0.0010	0.0010	0.0016	0.0015	0.0001	0.0110	0.0005	0	0	0.0011	0	0.0018	0.0024	0.0021	0.075	0.34444	T	0.072	0.43721	T	0.22	0.34004	B	0.059	0.33681	B	0.000031	0.55875	D	0.179041	0.535949	0.32014	D	1.24	0.30952	L	-3.26	0.93587	D	-1.23	0.31170	N	0.545	0.58629	0.595	0.91837	D	0.695	0.89481	D	10	0.016784072	0.00355	T	0.119357	0.79963	D	0.427	0.73445	0.481	0.56142	0.728666893031	0.72625	0.3870414648326476	0.38619	0.183762377744	0.20665	0.661811113358	0.61669	T	0.216928	0.57923	T	-0.199729	0.20844	T	-0.0655313	0.65942	T	0.0104503878400541	0.00144	T	0.788521	0.42806	T	0.4309394	0.62813	0.37394166	0.62571	0.4560806	0.64427	0.41085327	0.65334	-9.462	0.71039	D	0.2181223142002124	0.29367	0.228	0.48029	B	.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.	3.956671	0.58003	23.9	0.967557018203686	0.30980	0.94170	0.60325	D	AEFDBI	0.738059	0.68306	D	0.0893388028369319	0.45966	2.844448	0.234044868793907	0.51747	3.354553	0.998542344303848	0.37167	0.706298	0.61202	0	0.547309	0.14657	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.21	5.21	0.72005	4.955000	0.63343	.	.	0.741000	0.86335	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	1.0:0.0:0.0:0.0	13.333	0.59943	459	0.78817	.;.;.;.;Peroxin/Ferlin domain;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1352.98	34	chr2	71569911	.	A	T	1352.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.28;DP=834;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.40;ReadPosRankSum=0.811;SOR=0.703	GT:AD:DP:GQ:PL	0/1:85,59:144:99:1367,0,2090	20	0	1	0
chr2	73385912	73385912	-	GGA	exonic	ALMS1	.	nonframeshift insertion	ALMS1:NM_001378454:exon1:c.44_45insGGA:p.E28_A29insE	Alstrom syndrome, Autosomal recessive	.	362	257	161	168	574	1071	0.491592	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5952	27780.28	45	chr2	73385903	.	TGGAGGAGGA	TGGAGGAGGAGGA,TGGA,TGGAGGA,T,TGGAGGAGGAGGAGGA	27780.28	.	AC=20,9,3,1,3;AF=0.476,0.214,0.071,0.024,0.071;AN=42;BaseQRankSum=0.176;DP=1004;ExcessHet=1.7912;FS=9.292;InbreedingCoeff=-0.1643;MLEAC=20,9,3,1,3;MLEAF=0.476,0.214,0.071,0.024,0.071;MQ=60.00;MQRankSum=0.00;QD=32.34;ReadPosRankSum=-7.700e-01;SOR=1.557	GT:AD:DP:GQ:PL	1/2:1,24,29,0,0,0:54:99:2087,1149,1116,929,0,1069,2117,1201,1070,2244,2117,1201,1070,2244,2244,2117,1201,1070,2244,2244,2244	0	4	5	0
chr2	73385907	73385912	GGAGGA	-	exonic	ALMS1	.	nonframeshift deletion	ALMS1:NM_001378454:exon1:c.39_44del:p.E27_E28del	Alstrom syndrome, Autosomal recessive	.	362	257	161	168	574	1071	0.491592	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5952	27780.28	45	chr2	73385903	.	TGGAGGAGGA	TGGAGGAGGAGGA,TGGA,TGGAGGA,T,TGGAGGAGGAGGAGGA	27780.28	.	AC=20,9,3,1,3;AF=0.476,0.214,0.071,0.024,0.071;AN=42;BaseQRankSum=0.176;DP=1004;ExcessHet=1.7912;FS=9.292;InbreedingCoeff=-0.1643;MLEAC=20,9,3,1,3;MLEAF=0.476,0.214,0.071,0.024,0.071;MQ=60.00;MQRankSum=0.00;QD=32.34;ReadPosRankSum=-7.700e-01;SOR=1.557	GT:AD:DP:GQ:PL	1/2:1,24,29,0,0,0:54:99:2087,1149,1116,929,0,1069,2117,1201,1070,2244,2117,1201,1070,2244,2244,2117,1201,1070,2244,2244,2244	0	4	5	0
chr2	73385910	73385912	GGA	-	exonic	ALMS1	.	nonframeshift deletion	ALMS1:NM_001378454:exon1:c.42_44del:p.E28del	Alstrom syndrome, Autosomal recessive	.	362	257	161	168	574	1071	0.491592	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5952	27780.28	45	chr2	73385903	.	TGGAGGAGGA	TGGAGGAGGAGGA,TGGA,TGGAGGA,T,TGGAGGAGGAGGAGGA	27780.28	.	AC=20,9,3,1,3;AF=0.476,0.214,0.071,0.024,0.071;AN=42;BaseQRankSum=0.176;DP=1004;ExcessHet=1.7912;FS=9.292;InbreedingCoeff=-0.1643;MLEAC=20,9,3,1,3;MLEAF=0.476,0.214,0.071,0.024,0.071;MQ=60.00;MQRankSum=0.00;QD=32.34;ReadPosRankSum=-7.700e-01;SOR=1.557	GT:AD:DP:GQ:PL	1/2:1,24,29,0,0,0:54:99:2087,1149,1116,929,0,1069,2117,1201,1070,2244,2117,1201,1070,2244,2244,2117,1201,1070,2244,2244,2244	0	4	5	0
chr2	73385912	73385912	-	GGAGGA	exonic	ALMS1	.	nonframeshift insertion	ALMS1:NM_001378454:exon1:c.44_45insGGAGGA:p.E28_A29insEE	Alstrom syndrome, Autosomal recessive	.	362	257	161	168	574	1071	0.491592	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5952	27780.28	45	chr2	73385903	.	TGGAGGAGGA	TGGAGGAGGAGGA,TGGA,TGGAGGA,T,TGGAGGAGGAGGAGGA	27780.28	.	AC=20,9,3,1,3;AF=0.476,0.214,0.071,0.024,0.071;AN=42;BaseQRankSum=0.176;DP=1004;ExcessHet=1.7912;FS=9.292;InbreedingCoeff=-0.1643;MLEAC=20,9,3,1,3;MLEAF=0.476,0.214,0.071,0.024,0.071;MQ=60.00;MQRankSum=0.00;QD=32.34;ReadPosRankSum=-7.700e-01;SOR=1.557	GT:AD:DP:GQ:PL	1/2:1,24,29,0,0,0:54:99:2087,1149,1116,929,0,1069,2117,1201,1070,2244,2117,1201,1070,2244,2244,2117,1201,1070,2244,2244,2244	0	4	5	0
chr2	86481983	86481983	C	T	exonic	KDM3A	.	nonsynonymous SNV	KDM3A:NM_001146688:exon17:c.C2566T:p.L856F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.38	T	0.394	B	0.126	B	0.000	D	0.707	D	0.665	N	0.1	T	-0.900	T	0.104	T	0.232	1.772	11.88	3.97	1.429	0.663	8.905	0.021	0.0206136342194	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.978e-05	7.046e-05	7.351e-05	6.601e-05	0.0002	5.847e-05	5.457e-05	7.51e-05	7.001e-05	0	0	0	0	0	0.0002	8.993e-05	1.656e-05	0	1.314e-05	1.313e-05	0	2.69e-05	6.542e-05	2.18e-06	8.2e-07	.	.	0	0	6.542e-05	0	0	0	0	1.47e-05	0	0	0.215	0.19293	T	0.337	0.18178	T	0.394	0.34702	B	0.126	0.32692	B	0.000377	0.45194	D	0.090541	0.707	0.33481	D	0.345	0.11182	N	0.09	0.61443	T	0.26	0.04380	N	0.221	0.37613	-0.8997	0.48024	T	0.104	0.38169	T	10	0.09075686	0.15839	T	0.020614	0.43239	T	0.021	0.04004	0.227	0.15257	0.168254554758	0.16434	0.3664511931265572	0.36559	0.569852865305	0.53153	0.438354194164	0.30352	T	0.025032	0.18800	T	-0.149147	0.28447	T	-0.452016	0.27475	T	0.714319705963135	0.41413	D	0.684632	0.29288	T	0.028669143	0.02240	0.047450952	0.06837	0.028669143	0.02239	0.047450952	0.06836	-7.006	0.54077	T	.	.	0.073	0.06990	B	.;.;.;.	.;.;.;.	1.866016	0.23701	16.12	0.99500272464813078	0.67973	0.40419	0.26432	N	AEFBI	0.071707	0.14286	N	-0.397437539812333	0.25560	1.388411	-0.288358713267197	0.28480	1.588348	0.999958574878767	0.48110	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.8	3.97	0.45241	0.491000	0.22128	2.269000	0.31817	0.599000	0.40250	0.046000	0.21249	0.982000	0.30508	0.714000	0.34579	0.0:0.7676:0.0:0.2324	8.905	0.34678	483	0.77230	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	3255.98	35	chr2	86481983	.	C	T	3255.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.83;DP=948;ExcessHet=0.0000;FS=1.538;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.02;ReadPosRankSum=0.503;SOR=0.582	GT:AD:DP:GQ:PL	0/1:120,130:250:99:3270,0,2828	20	0	1	0
chr2	94876587	94876587	C	A	exonic	TEKT4	.	nonsynonymous SNV	TEKT4:NM_001286559:exon6:c.C580A:p.L194I	.	.	432	641	448	0	1	449	0.25896	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.207	B	0.092	B	0.005	N	0.996	D	-0.23	N	4.47	T	-0.881	T	0.003	T	0.423	-1.806	0.009	1.05	1.049	-0.033	7.455	0.085	0.0024401301091	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs74658435	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	1.0	0.01155	T	0.207	0.29891	B	0.092	0.30031	B	0.004769	0.33407	N	0.246841	0.99495	0.23405	N	0.755	0.19153	N	4.47	0.02084	T	0.82	0.01813	N	0.154	0.15888	-0.8811	0.49673	T	0.003	0.01026	T	10	0.04464045	0.03444	T	0.00244	0.04813	T	0.085	0.24743	0.341	0.33302	0.0716867268079	0.06686	0.19181908011527898	0.19099	0.0456283365019	0.04953	0.691997289658	0.65993	T	0.022278	0.17204	T	-0.227197	0.17020	T	-0.564129	0.15990	T	0.118842300974592	0.14317	T	0.485551	0.14815	T	0.08219759	0.18923	0.12475681	0.30067	0.08219759	0.18923	0.12475681	0.30067	-2.689	0.07211	T	.	.	0.085	0.10014	B	.	.	0.349679	0.07231	3.825	0.6655202341939721	0.08092	0.00372	0.01892	N	AEFDGBI	0.024577	0.01544	N	-1.14107701514534	0.05928	0.2715614	-1.13613817439115	0.07019	0.3399133	3.91639178412095E-4	0.06820	0.517182	0.21443	0	0.588066	0.40923	0	0.478664	0.07449	1	0.562822	0.20929	0	.	.	2.43	1.05	0.19280	-0.335000	0.07917	2.530000	0.33163	0.302000	0.18967	0.001000	0.13787	1.000000	0.68203	0.052000	0.15357	0.3227:0.6773:0.0:0.0	7.455	0.26431	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.3571	8192.58	228	chr2	94876587	.	C	A	8192.58	.	AC=15;AF=0.357;AN=42;BaseQRankSum=-2.040e-01;DP=4322;ExcessHet=17.4423;FS=7.871;InbreedingCoeff=-0.5628;MLEAC=15;MLEAF=0.357;MQ=58.06;MQRankSum=-1.627e+01;QD=2.09;ReadPosRankSum=-3.458e+00;SOR=1.672	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:252,41:293:99:0|1:94876587_C_A:963,0,10373:94876587	6	0	15	0
chr2	94876618	94876618	C	G	exonic	TEKT4	.	nonsynonymous SNV	TEKT4:NM_001286559:exon6:c.C611G:p.A204G	.	.	432	224	865	0	1	866	0.658797	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.986	D	0.919	D	0.000	D	1.000	D	3.26	M	3.93	T	-1.109	T	0.045	T	0.571	3.511	17.94	2.43	1.049	4.806	10.548	0.223	0.00662812679854	.	.	.	.	.	.	.	.	.	.	0.0002781	43	154602	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	0.55530	D	0.026	0.55759	D	0.986	0.61523	D	0.919	0.65474	D	0.000066	0.52346	D	0.125962	0.999996	0.58761	D	3.695	0.94570	H	3.93	0.03435	T	-2.62	0.56301	D	0.22	0.24634	-1.1093	0.03130	T	0.045	0.19478	T	10	0.34525645	0.51502	T	0.006628	0.17501	T	0.223	0.52023	0.627	0.76254	0.325533332567	0.32158	0.46843450301837664	0.46762	0.206080854031	0.23033	0.606577515602	0.53832	T	0.278563	0.65122	T	-0.0817015	0.39437	T	-0.355135	0.38615	T	0.993828952312469	0.84790	D	0.723528	0.33695	T	0.19832417	0.41730	0.4733884	0.69475	0.19832417	0.41730	0.4733884	0.69476	-7.747	0.59334	D	.	.	0.123	0.25656	B	.	.	3.340079	0.46023	22.2	0.99465032145053101	0.65996	0.46731	0.27825	N	AEFDGBI	0.300572	0.40933	N	0.291003033652373	0.55691	3.733242	0.0724350553839575	0.43168	2.624199	0.878548229655452	0.25568	0.517182	0.21443	0	0.588066	0.40923	0	0.478664	0.07449	1	0.604944	0.38103	0	.	.	2.43	2.43	0.28797	3.467000	0.52842	4.098000	0.41847	0.302000	0.18967	0.053000	0.21524	0.999000	0.35428	0.607000	0.31564	0.0:1.0:0.0:0.0	10.548	0.44261	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.425	33671.17	300	chr2	94876618	.	C	G	33671.17	.	AC=17;AF=0.425;AN=40;BaseQRankSum=-2.098e+00;DP=6579;ExcessHet=25.1139;FS=1.453;InbreedingCoeff=-0.7143;MLEAC=18;MLEAF=0.450;MQ=57.19;MQRankSum=-1.858e+01;QD=5.73;ReadPosRankSum=-2.736e+00;SOR=0.866	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:309,102:411:99:0|1:94876587_C_A:3353,0,12668:94876587	3	0	17	1
chr2	94876632	94876632	C	T	exonic	TEKT4	.	nonsynonymous SNV	TEKT4:NM_001286559:exon6:c.C625T:p.R209C	.	.	431	192	898	1	0	900	0.700935	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	0.048	B	0.017	B	0.105	N	1.000	D	1.645	L	4.19	T	-0.957	T	0.009	T	0.649	1.193	9.848	1.05	1.049	0.077	6.095	0.180	0.00282003103799	.	.	0.0020	0.0044	0.0012	0.0058	0	0.0016	0.0025	0.0012	0.00073	19	26028	rs72817671	5.478e-06	9.577e-06	5.451e-06	5.507e-06	7.196e-06	2.36e-06	1.7e-06	3.1e-06	2.24e-06	0	0	0	0	0	0	7.196e-06	0	0	2.629e-05	2.627e-05	1.285e-05	4.036e-05	0.0002	8.14e-06	5.14e-06	4.88e-06	1.83e-06	2.414e-05	0	0	0	0	0	0	2.94e-05	0	0.0002	0.078	0.33923	T	0.094	0.39645	T	0.048	0.22112	B	0.017	0.18140	B	0.104906	0.19681	N	0.502966	0.998961	0.45775	D	2.51	0.73131	M	4.19	0.02716	T	-4.17	0.75456	D	0.327	0.36779	-0.9567	0.39789	T	0.009	0.03315	T	10	0.010076523	0.00226	T	0.00282	0.05898	T	0.180	0.45073	.	.	0.280181792013	0.27631	0.3283832477789456	0.32751	0.0418521914883	0.04503	0.566292226315	0.48154	T	0.161975	0.50645	T	-0.0952065	0.37216	T	-0.374534	0.36360	T	0.0299758459612643	0.01985	T	0.763824	0.39073	T	0.11296644	0.26684	0.099358894	0.23720	0.11296644	0.26684	0.099358894	0.23719	-7.259	0.55903	T	.	.	0.087	0.11414	B	.	.	2.884469	0.38179	20.7	0.9739629417086707	0.33750	0.03769	0.09084	N	AEFDGBI	0.024782	0.01590	N	-0.521150392773251	0.21396	1.135229	-0.512733045882346	0.21807	1.181449	3.92921537291663E-4	0.06820	0.517182	0.21443	0	0.588066	0.40923	0	0.478664	0.07449	1	0.604944	0.38103	0	.	.	2.43	1.05	0.19280	0.158000	0.16239	-0.300000	0.10122	0.302000	0.18967	0.046000	0.21249	0.000000	0.08366	0.706000	0.34326	0.5496:0.4504:0.0:0.0	6.095	0.19238	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.45	45706.22	343	chr2	94876632	.	C	T	45706.22	.	AC=18;AF=0.450;AN=40;BaseQRankSum=-3.939e+00;DP=7445;ExcessHet=30.0624;FS=0.645;InbreedingCoeff=-0.7872;MLEAC=19;MLEAF=0.475;MQ=56.72;MQRankSum=-1.920e+01;QD=6.73;ReadPosRankSum=-7.690e-01;SOR=0.634	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:324,139:463:99:0|1:94876587_C_A:4780,0,13137:94876587	2	0	18	1
chr2	94876671	94876671	A	G	exonic	TEKT4	.	nonsynonymous SNV	TEKT4:NM_001286559:exon6:c.A664G:p.I222V	.	.	425	183	912	2	0	916	0.714509	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	0.967	D	0.77	P	0.000	D	1.000	D	2.675	M	3.8	T	-1.154	T	0.035	T	0.579	2.768	15.22	2.43	0.866	3.036	8.354	0.186	0.00380674609401	.	.	.	.	.	.	.	.	.	.	0.000461	12	26028	rs142133592	3.422e-06	3.42e-06	4.086e-06	2.751e-06	3.597e-06	1e-06	7.3e-07	8.4e-07	5.7e-07	0	0	0	0	0	0	3.597e-06	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	0.53172	D	0.044	0.49663	D	0.967	0.56408	D	0.77	0.56828	P	0.000003	0.62929	D	0.059094	0.999993	0.58761	D	2.465	0.71551	M	3.8	0.03781	T	-0.93	0.24898	N	0.355	0.39659	-1.1543	0.00903	T	0.035	0.15030	T	10	0.2894683	0.46528	T	0.003807	0.08899	T	0.186	0.46104	.	.	0.0716867268079	0.06686	0.38576410498893454	0.38491	0.041304716601	0.04434	0.519737362862	0.41590	T	0.070106	0.33877	T	-0.102007	0.36092	T	-0.384302	0.35219	T	0.773092746734619	0.44626	D	0.518148	0.16784	T	0.11624111	0.27419	0.19920714	0.43791	0.11624111	0.27418	0.19920714	0.43790	-6.086	0.46993	T	.	.	0.080	0.07650	B	.	.	2.197892	0.28028	17.66	0.99758744490040718	0.84851	0.77619	0.38185	D	AEFDGBI	0.245424	0.36636	N	0.178097147237031	0.50149	3.207675	0.0117110839863197	0.40257	2.399706	0.274437957628434	0.18925	0.646311	0.45356	0	0.626922	0.53725	0	0.478664	0.07449	1	0.699875	0.68795	0	.	.	2.43	2.43	0.28797	2.475000	0.44821	2.894000	0.35409	0.373000	0.20310	0.967000	0.34061	1.000000	0.68203	0.500000	0.29017	1.0:0.0:0.0:0.0	8.354	0.31480	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.4524	58582.68	398	chr2	94876671	.	A	G	58582.68	.	AC=19;AF=0.452;AN=42;BaseQRankSum=-7.281e+00;DP=8408;ExcessHet=36.0830;FS=0.633;InbreedingCoeff=-0.8261;MLEAC=19;MLEAF=0.452;MQ=56.56;MQRankSum=-2.037e+01;QD=7.10;ReadPosRankSum=4.57;SOR=0.600	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:373,165:538:99:0|1:94876671_A_G:5765,0,15064:94876671	2	0	19	0
chr2	94876674	94876674	G	A	exonic	TEKT4	.	nonsynonymous SNV	TEKT4:NM_001286559:exon6:c.G667A:p.A223T	.	.	426	179	915	2	0	919	0.719655	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.49	T	0.003	B	0.013	B	0.040	N	0.984	N	3.03	M	4.15	T	-0.940	T	0.013	T	0.4	0.667	7.574	-2.21	-0.321	0.130	6.926	0.156	.	.	0.0115815	0.0037	0.0032	0.0047	0.0156	0.0008	0.0021	0.0047	0.0045	0.0058783	153	26028	rs75603622	0	2.052e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.101	0.30375	T	0.267	0.22561	T	0.003	0.11197	B	0.013	0.16460	B	0.039834	0.24126	N	0.433987	0.997095	0.22793	N	3.49	0.92661	M	4.15	0.02815	T	-1.68	0.40082	N	0.141	0.14054	-0.9396	0.42679	T	0.013	0.04985	T	10	0.0041491687	0.00082	T	.	.	.	0.156	0.40720	.	.	0.117506650769	0.11410	0.2704892680538193	0.26961	0.0299475133996	0.03088	0.393358677626	0.24142	T	0.056124	0.30199	T	-0.161562	0.26520	T	-0.469849	0.25532	T	0.0468978844343634	0.04948	T	0.689731	0.29897	T	0.042698704	0.06523	0.104346365	0.25059	0.042698704	0.06523	0.104346365	0.25058	-4.749	0.33991	T	.	.	0.081	0.08129	B	.	.	1.062693	0.14447	11.02	0.91920144370954304	0.21243	0.00957	0.03676	N	AEFDGBI	0.022506	0.01133	N	-1.17567910300973	0.05369	0.2445992	-1.31751710428587	0.04204	0.1977864	0.0017749666691999	0.08872	0.646311	0.45356	0	0.626922	0.53725	0	0.478664	0.07449	1	0.699875	0.68795	0	.	.	2.43	-2.21	0.06581	0.036000	0.13706	2.580000	0.33410	-0.673000	0.04287	0.001000	0.13787	0.571000	0.25572	0.394000	0.26647	0.1368:0.0:0.6998:0.1633	6.926	0.23596	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.4524	58619.68	400	chr2	94876674	.	G	A	58619.68	.	AC=19;AF=0.452;AN=42;BaseQRankSum=-6.968e+00;DP=8442;ExcessHet=36.0830;FS=0.632;InbreedingCoeff=-0.8261;MLEAC=19;MLEAF=0.452;MQ=56.55;MQRankSum=-2.055e+01;QD=7.10;ReadPosRankSum=4.91;SOR=0.615	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:372,165:537:99:0|1:94876671_A_G:5768,0,15042:94876671	2	0	19	0
chr2	94876731	94876731	C	T	exonic	TEKT4	.	nonsynonymous SNV	TEKT4:NM_001286559:exon6:c.C724T:p.R242C	.	.	422	173	925	2	0	929	0.728627	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.13	T	0.572	P	0.148	B	0.002	N	1.000	D	1.87	L	4.11	T	-0.879	T	0.010	T	0.568	2.034	12.76	2.43	1.049	0.890	10.548	0.132	0.0041459355799	.	0.000199681	0.0026	0.0055	0.0008	0.0029	0.0009	0.0031	0.0024	0.0009	0.0016136	42	26028	rs1052809	2.266e-05	4.721e-05	2.05e-05	2.484e-05	0.0002	1.616e-05	1.421e-05	7.131e-05	5.487e-05	5.977e-05	6.711e-05	0	0	0	0.0002	9.902e-06	8.287e-05	0.0001	6.572e-06	6.567e-06	0	1.345e-05	6.545e-05	0	0	.	.	0	0	6.545e-05	0	0	0	0	0	0	0	0.103	0.30097	T	0.066	0.44501	T	0.572	0.38625	P	0.148	0.34065	B	0.002019	0.37457	N	0.261531	0.999997	0.58761	D	1.775	0.45938	L	4.11	0.02916	T	-4.13	0.75139	D	0.316	0.35620	-0.8786	0.49872	T	0.010	0.03856	T	10	0.01365149	0.00289	T	0.004146	0.09931	T	0.132	0.35948	.	.	0.491455083755	0.48780	0.5777951626377072	0.57708	0.0586537782296	0.06507	0.432330518961	0.29528	T	0.138567	0.47212	T	-0.133279	0.30966	T	-0.429223	0.30023	T	0.0535928154404934	0.06120	T	0.627737	0.24333	T	0.19040447	0.40625	0.158895	0.37084	0.19040447	0.40624	0.158895	0.37084	-4.535	0.31344	T	.	.	0.086	0.10883	B	.	.	2.921119	0.38776	20.8	0.98416532006618407	0.41234	0.09068	0.14897	N	AEFDGBI	0.064399	0.12503	N	-0.384009387342546	0.26038	1.418045	-0.456280458516489	0.23371	1.274154	0.0109668901558148	0.12109	0.646311	0.45356	0	0.844039	0.99811	0	0.478664	0.07449	1	0.604944	0.38103	0	.	.	2.43	2.43	0.28797	1.541000	0.35732	0.966000	0.23025	0.302000	0.18967	0.091000	0.22601	0.000000	0.08366	0.392000	0.26603	0.0:1.0:0.0:0.0	10.548	0.44261	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.4048	26857.9	353	chr2	94876731	.	C	T	26857.9	.	AC=17;AF=0.405;AN=42;BaseQRankSum=-2.609e+00;DP=7291;ExcessHet=25.1139;FS=3.279;InbreedingCoeff=-0.6800;MLEAC=17;MLEAF=0.405;MQ=57.21;MQRankSum=-2.034e+01;QD=3.85;ReadPosRankSum=-1.165e+00;SOR=0.996	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:372,128:500:99:.:.:3331,0,9440	4	0	17	0
chr2	94876737	94876737	C	A	exonic	TEKT4	.	nonsynonymous SNV	TEKT4:NM_001286559:exon6:c.C730A:p.P244T	.	.	420	623	478	1	0	480	0.2781	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.15	T	1.0	D	1.0	D	0.000	D	1.000	D	2.125	M	4.16	T	-1.119	T	0.028	T	0.662	3.703	18.81	2.43	1.049	3.135	10.548	0.305	0.00856323149497	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	.	0	2.052e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.49	0.72568	M	4.16	0.02791	T	-6.15	0.90178	D	0.449	0.48689	-1.1193	0.02376	T	0.028	0.11926	T	10	0.86077964	0.85296	D	0.008563	0.22631	T	0.305	0.62620	0.82	0.93328	0.439763647824	0.43599	0.7402352279972402	0.73968	0.238822044954	0.26437	0.431803226471	0.29455	T	0.211342	0.57208	T	-0.00288391	0.51258	T	-0.241919	0.50610	T	0.997360169887543	0.91383	D	0.868613	0.57103	D	0.468639	0.65206	0.43668678	0.67113	0.468639	0.65207	0.43668678	0.67113	-9.492	0.70809	D	.	.	0.247	0.48188	B	.	.	3.384766	0.46838	22.4	0.99756532367682871	0.84694	0.76429	0.37483	D	AEFDGBI	0.183688	0.31101	N	0.284556175349996	0.55366	3.700636	0.149238450167121	0.47101	2.945506	0.878548229655452	0.25568	0.646311	0.45356	0	0.844039	0.99811	0	0.478664	0.07449	1	0.699875	0.68795	0	.	.	2.43	2.43	0.28797	3.367000	0.52075	5.126000	0.47622	0.302000	0.18967	1.000000	0.71638	1.000000	0.68203	0.409000	0.26983	0.0:1.0:0.0:0.0	10.548	0.44261	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.2857	9909.42	357	chr2	94876737	.	C	A	9909.42	.	AC=12;AF=0.286;AN=42;BaseQRankSum=-2.994e+00;DP=5582;ExcessHet=9.6308;FS=1.817;InbreedingCoeff=-0.4000;MLEAC=12;MLEAF=0.286;MQ=56.98;MQRankSum=-1.456e+01;QD=2.02;ReadPosRankSum=-2.106e+00;SOR=0.954	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:420,78:498:99:0|1:94876737_C_A:2011,0,17222:94876737	9	0	12	0
chr2	94876740	94876740	A	C	exonic	TEKT4	.	nonsynonymous SNV	TEKT4:NM_001286559:exon6:c.A733C:p.T245P	.	.	420	617	484	1	0	486	0.282558	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	T	0.125	B	0.085	B	0.131	N	1.000	N	2.43	M	4.2	T	-0.996	T	0.012	T	0.464	1.473	10.87	1.2	0.866	-1.017	2.624	0.095	0.00171498663639	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.015	0.52492	D	0.114	0.36765	T	0.125	0.26866	B	0.085	0.29395	B	0.131368	0.18625	N	0.557409	0.999999	0.08975	N	1.955	0.52871	M	4.2	0.02689	T	-3.07	0.63207	D	0.235	0.26475	-0.9960	0.31028	T	0.012	0.04558	T	10	0.1880475	0.34342	T	0.001715	0.02856	T	0.095	0.27398	0.692	0.82938	0.242825505644	0.23883	0.760572030042999	0.76005	0.0377657102004	0.04010	0.42577329278	0.28630	T	0.133664	0.46448	T	-0.179838	0.23760	T	-0.496102	0.22753	T	0.267470479011536	0.23639	T	0.608739	0.23025	T	0.12824208	0.29987	0.113306135	0.27344	0.12824208	0.29987	0.113306135	0.27344	-6.544	0.50625	T	.	.	0.070	0.03552	B	.	.	1.347397	0.17547	13.23	0.9830799806719418	0.40116	0.00645	0.02815	N	AEFDGBI	0.062337	0.11976	N	-0.575656789009934	0.19685	1.032239	-0.641925779952209	0.18420	0.9839579	4.74237286387209E-4	0.07095	0.646311	0.45356	0	0.844039	0.99811	0	0.478664	0.07449	1	0.699875	0.68795	0	.	.	2.43	1.2	0.20181	-0.628000	0.05611	0.633000	0.20247	0.373000	0.20310	0.000000	0.06391	0.002000	0.18203	0.392000	0.26603	0.5413:0.283:0.1757:0.0	2.624	0.04627	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.2857	10071.42	352	chr2	94876740	.	A	C	10071.42	.	AC=12;AF=0.286;AN=42;BaseQRankSum=-1.875e+00;DP=5568;ExcessHet=9.6308;FS=1.912;InbreedingCoeff=-0.4000;MLEAC=12;MLEAF=0.286;MQ=57.10;MQRankSum=-1.500e+01;QD=2.08;ReadPosRankSum=-2.492e+00;SOR=0.941	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:412,78:490:99:0|1:94876737_C_A:2035,0,16978:94876737	9	0	12	0
chr2	95855390	95855390	T	C	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon84:c.A5969G:p.N1990S,	.	.	445	446	628	3	0	634	0.415465	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6	T	.	.	.	.	.	.	1.000	N	1.32	L	2.56	T	-0.945	T	0.020	T	0.057	1.140	9.645	-5.28	-1.321	0.150	0.771	0.055	.	.	.	0.4725	0.4791	0.4803	0.4672	0.4880	0.4733	0.4644	0.4563	0.0898263	2338	26028	rs5005871	6.166e-06	8.414e-05	8.18e-06	4.132e-06	1.162e-05	2.9e-06	2.1e-06	.	.	0	0	0	0	0.0002	0	0	0	1.162e-05	8.21e-05	0.0014	8.013e-05	8.417e-05	0.0001	4.669e-05	3.648e-05	4.891e-05	3.155e-05	0.0001	0	0.0001	0	0	0.0003	0	3.041e-05	0	0	0.015	0.52492	D	0.034	0.52727	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	2.56	0.13673	T	-1.08	0.28084	N	0.033	0.00882	-0.9453	0.41764	T	0.020	0.08266	T	7	0.002589792	0.00039	T	.	.	.	0.055	0.15663	.	.	.	.	0.012446412429317067	0.01203	.	.	.	.	.	0.01031	0.09320	T	-0.355653	0.04382	T	-0.748648	0.03539	T	0.0108537478151246	0.00155	T	0.411359	0.10665	T	0.03944852	0.05450	0.041137557	0.04607	0.03944852	0.05449	0.041137557	0.04607	-4.418	0.29800	T	.	.	0.294	0.52491	B	.	.	0.798647	0.11694	8.273	0.5612225942636786	0.05485	0.02449	0.06892	N	AEFI	0.055298	0.10127	N	-1.21497369849486	0.04782	0.2165626	-1.43546346583335	0.02904	0.1344849	0.00116623651718095	0.08293	0.656854	0.48797	0	0.653731	0.59785	0	0.565031	0.19037	0	0.699908	0.69081	0	.	.	2.64	-5.28	0.02543	0.547000	0.23007	-2.563000	0.03605	-0.638000	0.04459	0.451000	0.26573	0.000000	0.08366	0.008000	0.08271	0.3266:0.1273:0.3289:0.2173	0.771	0.00959	256	0.89942	CCDC144C-like, coiled-coil domain	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0.5	31056.74	205	chr2	95855390	.	T	C	31056.74	.	AC=21;AF=0.500;AN=42;BaseQRankSum=2.80;DP=5080;ExcessHet=54.0936;FS=20.631;InbreedingCoeff=-1.0000;MLEAC=21;MLEAF=0.500;MQ=55.44;MQRankSum=-1.119e+01;QD=6.32;ReadPosRankSum=-6.536e+00;SOR=2.000	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:163,61:224:99:.:.:1372,0,4596	0	0	21	0
chr2	95855402	95855402	G	A	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon84:c.C5957T:p.A1986V,	.	.	430	1069	23	0	0	23	0.0106432	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	T	.	.	.	.	.	.	1.000	N	0.55	N	2.57	T	-0.954	T	0.019	T	0.064	2.508	14.34	-5.04	-0.601	1.436	5.100	0.048	0.000631896702872	.	.	0.0002	0.0001	8.678e-05	0	0	0.0003	0.0011	0.0002	3.84e-05	1	26028	rs76606859	2.053e-06	8.893e-06	4.086e-06	0	.	5.5e-07	1.5e-07	.	.	0	0	0	0	5.639e-05	0	0	0	0	0	0.0001	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.085	0.32769	T	0.138	0.33780	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	2.57	0.13552	T	-1.77	0.41809	N	0.165	0.17416	-0.9544	0.40203	T	0.019	0.07846	T	7	0.08118898	0.13264	T	6.32E-4	0.00319	T	0.048	0.13305	.	.	0.0551355673512	0.04727	0.010211084344198413	0.00983	.	.	.	.	.	0.003816	0.03222	T	-0.347539	0.04883	T	-0.736992	0.04019	T	0.100647859275341	0.12429	T	0.462454	0.13421	T	0.03511514	0.04071	0.05560817	0.09786	0.03511514	0.04071	0.05560817	0.09786	-6.012	0.46381	T	.	.	0.260	0.49451	B	.	.	1.035434	0.14157	10.73	0.98637519765940418	0.44001	0.07756	0.13755	N	AEFI	0.042056	0.06477	N	-0.800839877268318	0.13288	0.6535874	-0.97423012277431	0.10366	0.5216334	2.64000259135655E-4	0.06244	0.656854	0.48797	0	0.653731	0.59785	0	0.565031	0.19037	0	0.699908	0.69081	0	.	.	2.64	-5.04	0.02742	1.747000	0.37925	-0.122000	0.11711	0.318000	0.19305	0.993000	0.37899	0.000000	0.08366	0.055000	0.15596	0.2997:0.0:0.4912:0.2092	5.100	0.14091	256	0.89942	CCDC144C-like, coiled-coil domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.04762	122.11	207	chr2	95855402	.	G	A	122.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.271;DP=5032;ExcessHet=0.1072;FS=0.912;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=53.70;MQRankSum=-5.511e+00;QD=0.21;ReadPosRankSum=-2.359e+00;SOR=0.929	GT:AD:DP:GQ:PL	0/1:231,30:261:95:95,0,6993	19	0	2	0
chr2	95855465	95855465	T	A	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon84:c.A5894T:p.D1965V,	.	.	428	1092	2	0	0	2	0.000914913	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	.	.	.	.	.	.	0.891	D	2.175	M	2.08	T	-0.958	T	0.086	T	0.505	1.519	11.03	2.11	1.218	4.480	8.115	0.135	0.00152046796119	.	.	0.0001	0	0	0	0	0.0002	0	0.0001	3.84e-05	1	26028	rs758193735	0.0001	0.0001	0.0001	0.0001	0.0002	0.0001	9.579e-05	0.0001	0.0001	0	2.238e-05	0	0	0	0.0002	0.0001	8.304e-05	0.0002	2.627e-05	2.627e-05	2.569e-05	2.689e-05	0.0002	8.14e-06	5.14e-06	1.171e-05	6.25e-06	0	0	0	0	0	0	0	4.409e-05	0	0.0002	0.0	0.91255	D	0.005	0.72224	D	.	.	.	.	.	.	.	.	.	.	0.891128	0.35955	D	.	.	.	2.08	0.20255	T	-7.97	0.96368	D	0.487	0.52119	-0.9578	0.39589	T	0.086	0.33522	T	7	0.3374629	0.50868	T	0.00152	0.02369	T	0.135	0.36572	0.261	0.20473	0.555947139552	0.55254	0.03433015608944265	0.03381	.	.	.	.	.	0.085602	0.37538	T	-0.267254	0.12065	T	-0.347368	0.39507	T	0.794141411781311	0.45961	D	0.918108	0.70532	D	0.7426072	0.80442	0.5686348	0.75026	0.7426072	0.80443	0.5686348	0.75027	-9.339	0.69852	D	.	.	0.351	0.56631	A	.	.	3.193842	0.43402	21.7	0.98466030591280462	0.41803	0.77538	0.38135	D	AEFI	0.291578	0.40267	N	-0.144656395320405	0.35463	2.037241	-0.294742134442014	0.28271	1.574943	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	4.926000	0.63134	-0.291000	0.10192	0.312000	0.19173	1.000000	0.71638	0.000000	0.08366	0.369000	0.26088	0.0:0.0:0.0:1.0	8.115	0.30096	256	0.89942	CCDC144C-like, coiled-coil domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	3540.98	231	chr2	95855465	.	T	A	3540.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=5.88;DP=5639;ExcessHet=0.0000;FS=3.760;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=47.87;MQRankSum=5.48;QD=9.27;ReadPosRankSum=-2.982e+00;SOR=0.905	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:277,105:382:99:0|1:95855465_T_A:3555,0,11287:95855465	20	0	1	0
chr2	95855466	95855466	C	A	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon84:c.G5893T:p.D1965Y,	.	.	428	1092	2	0	0	2	0.000914913	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	.	.	.	.	.	.	0.998	N	1.83	L	2.1	T	-1.033	T	0.065	T	0.476	1.012	9.135	1.21	0.445	4.363	6.691	0.141	0.00104955117721	.	.	0.0001	0	0	0	0	0.0002	0	0.0001	3.84e-05	1	26028	rs777537100	0.0001	0.0001	0.0001	0.0001	0.0002	0.0001	9.579e-05	0.0001	0.0001	0	2.238e-05	0	0	0	0.0002	0.0001	8.305e-05	0.0002	2.628e-05	2.627e-05	2.569e-05	2.689e-05	0.0002	8.14e-06	5.14e-06	1.17e-05	6.25e-06	0	0	0	0	0	0	0	4.409e-05	0	0.0002	0.02	0.49613	D	0.003	0.76473	D	.	.	.	.	.	.	.	.	.	.	0.997917	0.22446	N	.	.	.	2.1	0.19990	T	-7.93	0.96269	D	0.506	0.53796	-1.0328	0.19554	T	0.065	0.26702	T	7	0.31357104	0.48807	T	0.00105	0.01191	T	0.141	0.37795	0.238	0.16912	0.520803792171	0.51724	0.06520554522100623	0.06459	.	.	.	.	.	0.084699	0.37337	T	-0.301956	0.08476	T	-0.397216	0.33709	T	0.494660794734955	0.32434	T	0.906909	0.67118	D	0.44076815	0.63452	0.30621958	0.56647	0.44076815	0.63452	0.30621958	0.56647	-9.65	0.71790	D	.	.	0.286	0.51806	B	.	.	3.181095	0.43184	21.7	0.97590278333556157	0.34786	0.75448	0.36941	D	AEFI	0.318806	0.42239	N	-0.256552350999491	0.30844	1.723628	-0.408636186083836	0.24744	1.356696	1.65893676392858E-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	1.21	0.20240	4.859000	0.62653	-1.855000	0.04605	0.284000	0.18682	1.000000	0.71638	0.000000	0.08366	0.356000	0.25796	0.0:0.8385:0.0:0.1615	6.691	0.22363	256	0.89942	CCDC144C-like, coiled-coil domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	3540.98	231	chr2	95855466	.	C	A	3540.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=5.23;DP=5638;ExcessHet=0.0000;FS=3.760;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=47.84;MQRankSum=5.48;QD=9.27;ReadPosRankSum=-2.835e+00;SOR=0.905	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:277,105:382:99:0|1:95855465_T_A:3555,0,11287:95855465	20	0	1	0
chr2	95855549	95855549	T	C	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon84:c.A5810G:p.N1937S,	.	.	442	278	792	10	0	812	0.593567	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.76	T	.	.	.	.	.	.	1.000	N	-0.55	N	2.62	T	-0.930	T	0.011	T	0.014	-2.217	0.005	-0.838	-0.224	0.602	6.069	0.027	.	.	.	0.4955	0.4792	0.5	0.4994	0.4998	0.4950	0.4987	0.4997	0.0874443	2276	26028	rs5005869	0	2.736e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	6.573e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.296	0.14694	T	0.507	0.10930	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	2.62	0.12988	T	-0.23	0.10656	N	0.021	0.00339	-0.9299	0.44153	T	0.011	0.04088	T	7	0.0016410053	0.00020	T	.	.	.	0.027	0.05988	.	.	.	.	0.0144060030913769	0.01397	.	.	.	.	.	0.002	0.01223	T	-0.411715	0.01936	T	-0.829176	0.01277	T	0.00502627076001595	0.00054	T	0.545645	0.18668	T	0.016608926	0.00209	0.02213417	0.00245	0.016608926	0.00209	0.02213417	0.00245	-4.21	0.26896	T	.	.	0.100	0.17060	B	.	.	-0.269215	0.02755	0.369	0.23312518342213173	0.00979	0.00866	0.03436	N	AEFI	0.023348	0.01289	N	-1.09098549269488	0.06808	0.3144812	-1.2104876692623	0.05741	0.2743807	9.86009276359309E-6	0.01202	0.706548	0.73137	0	0.724815	0.89359	0	0.565031	0.19037	0	0.636168	0.56350	0	.	.	2.11	-0.838	0.10218	0.492000	0.22144	-6.933000	0.01270	0.312000	0.19173	0.073000	0.22155	0.000000	0.08366	0.002000	0.04165	0.0:0.3513:0.0:0.6487	6.069	0.19105	256	0.89942	CCDC144C-like, coiled-coil domain	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0.5	75221.74	386	chr2	95855549	.	T	C	75221.74	.	AC=21;AF=0.500;AN=42;BaseQRankSum=-4.304e+00;DP=7464;ExcessHet=54.0936;FS=12.010;InbreedingCoeff=-1.0000;MLEAC=21;MLEAF=0.500;MQ=44.23;MQRankSum=-1.248e+01;QD=10.32;ReadPosRankSum=0.574;SOR=1.209	GT:AD:DP:GQ:PL	0/1:221,155:376:99:3254,0,6085	0	0	21	0
chr2	95855576	95855576	A	G	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon84:c.T5783C:p.I1928T,	.	.	453	483	584	2	0	588	0.378378	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	T	.	.	.	.	.	.	1.000	N	1.175	L	2.41	T	-1.026	T	0.039	T	0.224	1.957	12.50	2.11	1.218	0.837	8.115	0.016	.	.	.	0.0351	0.0714	0.0215	0.0369	0.0035	0.0411	0.0420	0.0134	0.0472952	1231	26028	rs5005868	0.0003	0.0003	0.0003	0.0003	0.0004	0.0003	0.0002	0.0003	0.0003	8.988e-05	0	0	0	0	0	0.0004	0.0001	0	0.0001	0.0001	0.0002	8.079e-05	0.0002	8.674e-05	7.264e-05	0.0001	9.902e-05	0.0001	0	0	0	0	0	0	0.0002	0	0	0.061	0.37118	T	0.076	0.42614	T	.	.	.	.	.	.	.	.	.	.	0.999854	0.20048	N	.	.	.	2.41	0.15492	T	-2.88	0.60507	D	0.111	0.09772	-1.0255	0.21919	T	0.039	0.16634	T	7	0.0018533468	0.00025	T	.	.	.	0.016	0.02506	.	.	.	.	0.019306205368593718	0.01884	.	.	.	.	.	0.00751	0.06912	T	-0.24663	0.14515	T	-0.592043	0.13489	T	0.0121704833066968	0.00195	T	0.355564	0.08068	T	0.13378952	0.31107	0.17544822	0.40011	0.13378952	0.31107	0.17544822	0.40010	-5.456	0.41455	T	.	.	0.137	0.29914	B	.	.	2.390189	0.30693	18.52	0.99376893328488414	0.61715	0.31313	0.24306	N	AEFI	0.047864	0.08107	N	-0.41657885139222	0.24888	1.347055	-0.520845466279587	0.21587	1.168515	1.17212494177188E-4	0.05269	0.706548	0.73137	0	0.724815	0.89359	0	0.565031	0.19037	0	0.636168	0.56350	0	.	.	2.11	2.11	0.26299	1.107000	0.30724	-0.057000	0.12472	0.351000	0.19951	0.797000	0.29682	0.000000	0.08366	0.192000	0.21661	1.0:0.0:0.0:0.0	8.115	0.30096	256	0.89942	CCDC144C-like, coiled-coil domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.5	63179.74	326	chr2	95855576	.	A	G	63179.74	.	AC=21;AF=0.500;AN=42;BaseQRankSum=-3.434e+00;DP=6464;ExcessHet=54.0936;FS=27.969;InbreedingCoeff=-1.0000;MLEAC=21;MLEAF=0.500;MQ=46.08;MQRankSum=-1.255e+01;QD=10.07;ReadPosRankSum=-2.075e+00;SOR=1.916	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:226,101:327:99:.:.:2995,0,6529	0	0	21	0
chr2	95855586	95855586	T	C	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon84:c.A5773G:p.M1925V,	.	.	447	884	189	2	0	193	0.0984192	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.34	T	.	.	.	.	.	.	1.000	N	0.625	N	2.59	T	-0.961	T	0.019	T	0.071	-0.386	2.186	-2.48	-0.579	0.734	3.442	0.035	0.000861707961223	.	.	0.0008	0.0001	0.0009	0.0002	0.0002	0.0014	0	0.0001	3.84e-05	1	26028	rs201192250	0	6.84e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.149	0.24758	T	0.137	0.33894	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	2.59	0.13317	T	-2.2	0.49519	N	0.124	0.11626	-0.9610	0.38993	T	0.019	0.07800	T	7	0.011997491	0.00260	T	8.62E-4	0.00755	T	0.035	0.08770	.	.	0.0806252709748	0.07271	0.015437605054057783	0.01499	.	.	.	.	.	0.004928	0.04354	T	-0.342361	0.05226	T	-0.729554	0.04347	T	0.0291781713714631	0.01865	T	0.515548	0.16619	T	0.11939599	0.28113	0.13833767	0.33041	0.11939599	0.28113	0.13833767	0.33040	-3.711	0.19481	T	.	.	0.227	0.45954	B	.	.	0.618436	0.09867	6.630	0.39056500088029883	0.02672	0.17497	0.19862	N	AEFI	0.042474	0.06596	N	-0.697976344310311	0.16079	0.8160669	-0.828039099870389	0.13816	0.7187932	1.99158050687805E-5	0.02871	0.706548	0.73137	0	0.724815	0.89359	0	0.565031	0.19037	0	0.636168	0.56350	0	.	.	2.11	-2.48	0.06052	0.550000	0.23052	-0.005000	0.13145	0.312000	0.19173	0.994000	0.38300	0.000000	0.08366	0.117000	0.19042	0.3728:0.0:0.19:0.4372	3.442	0.07037	256	0.89942	CCDC144C-like, coiled-coil domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4286	8954.51	309	chr2	95855586	.	T	C	8954.51	.	AC=18;AF=0.429;AN=42;BaseQRankSum=0.765;DP=6041;ExcessHet=30.0624;FS=14.124;InbreedingCoeff=-0.7500;MLEAC=18;MLEAF=0.429;MQ=46.89;MQRankSum=-6.696e+00;QD=1.78;ReadPosRankSum=-2.125e+00;SOR=2.133	GT:AD:DP:GQ:PL	0/1:248,63:311:99:1189,0,10029	3	0	18	0
chr2	95855588	95855588	T	C	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon84:c.A5771G:p.Q1924R,	.	.	449	591	480	2	0	484	0.290516	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.37	T	.	.	.	.	.	.	1.000	N	0.67	N	2.4	T	-0.978	T	0.023	T	0.059	-0.264	2.731	0.82	0.218	1.729	2.541	0.035	.	.	.	0.0306	0.0658	0.0188	0.0337	0.0028	0.0359	0.0324	0.0111	0.0379591	988	26028	rs5005867	0	6.84e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.17	0.22833	T	0.311	0.19660	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	2.4	0.15608	T	-2.4	0.52776	N	0.054	0.02559	-0.9776	0.35548	T	0.023	0.09968	T	7	0.004524857	0.00093	T	.	.	.	0.035	0.08770	.	.	.	.	0.014319341971499302	0.01388	.	.	.	.	.	0.034191	0.23222	T	-0.342862	0.05192	T	-0.730274	0.04316	T	0.0218009842485075	0.00887	T	0.374863	0.08927	T	0.052712794	0.09870	0.11261669	0.27173	0.052712794	0.09870	0.11261669	0.27172	-5.986	0.46163	T	.	.	0.14	0.30686	B	.	.	1.453026	0.18743	13.90	0.88078949201552847	0.17700	0.32438	0.24585	N	AEFI	0.045481	0.07443	N	-0.542064366665841	0.20732	1.095167	-0.636773118221108	0.18551	0.9915041	9.62839158373236E-6	0.01202	0.706548	0.73137	0	0.724815	0.89359	0	0.565031	0.19037	0	0.636168	0.56350	0	.	.	2.11	0.82	0.17932	2.106000	0.41459	0.119000	0.14890	-0.667000	0.04321	1.000000	0.71638	0.000000	0.08366	0.084000	0.17470	0.0:0.1714:0.2923:0.5363	2.541	0.04438	256	0.89942	CCDC144C-like, coiled-coil domain	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.5	49926.74	306	chr2	95855588	.	T	C	49926.74	.	AC=21;AF=0.500;AN=42;BaseQRankSum=-3.094e+00;DP=5999;ExcessHet=54.0936;FS=32.611;InbreedingCoeff=-1.0000;MLEAC=21;MLEAF=0.500;MQ=47.18;MQRankSum=-1.171e+01;QD=8.52;ReadPosRankSum=-4.041e+00;SOR=2.245	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:234,72:306:99:.:.:2134,0,6744	0	0	21	0
chr2	95859895	95859895	T	C	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon82:c.A4960G:p.T1654A,	.	.	951	467	84	20	0	124	0.117202	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.27	T	0.0	B	0.0	B	.	.	1.000	N	0	N	2.33	T	-0.992	T	0.020	T	0.208	-0.096	3.531	1.85	1.110	0.669	7.648	0.035	.	.	.	0.4444	0.4790	0.4373	0.4517	0.4253	0.4197	0.4345	0.4715	0.0150223	391	26028	rs75198192	4.293e-06	9.85e-05	5.648e-06	2.901e-06	2.806e-05	1.54e-06	1.02e-06	.	.	0	2.806e-05	0	0	4.058e-05	0	0	5.178e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.071	0.35165	T	0.222	0.25748	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	0.999981	0.18198	N	.	.	.	2.33	0.16492	T	-0.27	0.11366	N	0.03	0.00717	-0.9918	0.32141	T	0.020	0.08593	T	9	0.0021876395	0.00032	T	.	.	.	0.035	0.08770	.	.	.	.	0.004573925157677656	0.00430	.	.	0.524144649506	0.42211	T	0.007589	0.06987	T	-0.275691	0.11129	T	-0.633787	0.10130	T	0.00243692789656227	0.00025	T	0.119888	0.00926	T	0.026656736	0.01750	0.04326469	0.05342	0.026656736	0.01750	0.04326469	0.05342	-4.496	0.30836	T	.	.	0.118	0.24260	B	.	.	1.595165	0.20400	14.73	0.67616785214816144	0.08408	0.26935	0.23135	N	AEFI	0.048105	0.08173	N	-0.927352117069161	0.10206	0.4865986	-0.909991846583639	0.11858	0.6066753	7.95608252575671E-5	0.04552	0.632932	0.41330	0	0.666794	0.63253	0	0.657636	0.52715	0	0.755437	0.99637	0	.	.	1.85	1.85	0.24418	0.945000	0.28654	2.286000	0.31928	-0.387000	0.05364	0.808000	0.29825	0.078000	0.22336	0.001000	0.02609	0.0:0.0:0.0:1.0	7.648	0.27501	256	0.89942	.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0.3333	5668.45	83	chr2	95859895	.	T	C	5668.45	.	AC=14;AF=0.333;AN=42;BaseQRankSum=-4.500e-02;DP=1947;ExcessHet=14.4320;FS=1.573;InbreedingCoeff=-0.4994;MLEAC=14;MLEAF=0.333;MQ=58.17;MQRankSum=-2.110e+00;QD=4.01;ReadPosRankSum=0.759;SOR=0.570	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:89,11:100:99:.:.:146,0,3684	7	0	14	0
chr2	95859969	95859969	-	T	exonic	ANKRD36C	.	frameshift insertion	ANKRD36C:NM_001310154:exon82:c.4885_4886insA:p.L1629Hfs*4,	.	.	952	362	155	53	0	261	0.264975	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4228	0.4631	0.4656	0.4778	0.3159	0.4147	0.4099	0.4349	0.0494083	1286	26028	rs111957693	5.008e-06	5.814e-05	5.648e-06	4.351e-06	.	2.08e-06	1.34e-06	.	.	0	0	0	0	0.0001	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4762	28198.39	155	chr2	95859969	.	A	AT	28198.39	.	AC=20;AF=0.476;AN=42;BaseQRankSum=-1.047e+00;DP=3277;ExcessHet=43.6797;FS=2.014;InbreedingCoeff=-0.9091;MLEAC=20;MLEAF=0.476;MQ=58.97;MQRankSum=-9.329e+00;QD=8.84;ReadPosRankSum=0.032;SOR=0.714	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:122,45:167:99:0|1:95859969_A_AT:1450,0,4895:95859969	1	0	20	0
chr2	95859970	95859970	G	T	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon82:c.C4885A:p.L1629M,	.	.	957	355	157	53	0	263	0.270298	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.72	T	0.053	B	0.021	B	.	.	0.994	N	-1.7	N	2.42	T	-0.981	T	0.008	T	0.245	-3.330	0.001	-3.7	-1.374	-0.833	3.712	0.028	.	.	.	0.4545	0.4802	0.4743	0.4840	0.3659	0.4484	0.4515	0.4666	0.0009221	24	26028	rs77057279	9.318e-06	0.0001	7.073e-06	1.162e-05	.	5.2e-06	4.01e-06	.	.	0	0	0	0	0.0003	0	0	0	0	0	2.631e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.911	0.02361	T	0.243	0.24193	T	0.053	0.22573	B	0.021	0.19346	B	.	.	.	.	0.994063	0.23594	N	.	.	.	2.42	0.15376	T	1.44	0.00794	N	0.079	0.05414	-0.9807	0.34840	T	0.008	0.02801	T	9	0.0015536547	0.00018	T	.	.	.	0.028	0.06331	.	.	.	.	0.0034729447233706272	0.00324	.	.	0.598522663116	0.52695	T	0.002815	0.02207	T	-0.296982	0.08946	T	-0.664371	0.07975	T	0.000298728606434334	0.00002	T	0.227477	0.03026	T	0.060971648	0.12573	0.043196924	0.05321	0.060971648	0.12573	0.043196924	0.05321	-3.51	0.16572	T	.	.	0.079	0.07224	B	.	.	-0.617261	0.01525	0.098	0.057558437599456599	0.00015	0.02138	0.06301	N	AEFI	0.027961	0.02376	N	-1.81372414748207	0.00512	0.02205084	-1.77419214230889	0.00845	0.0377715	9.60209616443048E-5	0.04910	0.632932	0.41330	0	0.666794	0.63253	0	0.565031	0.19037	0	0.755437	0.99637	0	.	.	1.85	-3.7	0.04150	-1.387000	0.02641	-5.763000	0.01604	-0.394000	0.05329	0.245000	0.24799	0.000000	0.08366	0.008000	0.08271	0.2827:0.0:0.3453:0.372	3.712	0.07953	256	0.89942	.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0.4762	28168.43	155	chr2	95859970	.	G	T	28168.43	.	AC=20;AF=0.476;AN=42;BaseQRankSum=0.065;DP=3274;ExcessHet=43.6797;FS=2.014;InbreedingCoeff=-0.9091;MLEAC=20;MLEAF=0.476;MQ=58.99;MQRankSum=-9.404e+00;QD=8.80;ReadPosRankSum=0.078;SOR=0.718	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:122,45:167:99:0|1:95859969_A_AT:1450,0,4895:95859969	1	0	20	0
chr2	95859975	95859975	C	T	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon82:c.G4880A:p.R1627Q,	.	.	957	354	158	53	0	264	0.271605	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.93	T	0.055	B	0.007	B	.	.	1.000	N	-1.355	N	2.42	T	-0.947	T	0.010	T	0.097	-0.493	1.736	0.634	0.138	0.540	5.605	0.036	.	.	.	0.4301	0.4670	0.4743	0.4733	0.3036	0.4236	0.4062	0.4476	0.00073	19	26028	rs77757712	2.22e-05	6.841e-05	2.827e-05	1.597e-05	8.413e-05	1.591e-05	1.386e-05	2.23e-05	1.218e-05	3.172e-05	8.413e-05	0	0	6.31e-05	0	1.855e-05	1.726e-05	3.789e-05	1.316e-05	1.971e-05	1.286e-05	1.348e-05	6.563e-05	2.19e-06	8.2e-07	.	.	0	0	6.563e-05	0	0	0	0	1.471e-05	0	0	0.162	0.23541	T	0.485	0.11725	T	0.055	0.22733	B	0.007	0.12992	B	.	.	.	.	0.999977	0.18612	N	.	.	.	2.42	0.15376	T	-0.1	0.08495	N	0.04	0.01347	-0.9474	0.41414	T	0.010	0.03492	T	9	0.0016048849	0.00019	T	.	.	.	0.036	0.09122	.	.	.	.	0.007547077727271438	0.00720	.	.	0.508793115616	0.40052	T	0.002443	0.01836	T	-0.329346	0.06161	T	-0.710859	0.05250	T	0.00527709899755481	0.00057	T	0.480052	0.14488	T	0.032344773	0.03241	0.03586384	0.02919	0.032344773	0.03241	0.03586384	0.02918	-4.415	0.29759	T	.	.	0.069	0.03231	B	.	.	0.983069	0.13607	10.14	0.66913885358475289	0.08199	0.01513	0.05000	N	AEFI	0.023495	0.01318	N	-1.4910599935179	0.01913	0.08394092	-1.36789013472358	0.03599	0.1682304	1.02737162787131E-5	0.01202	0.632932	0.41330	0	0.666794	0.63253	0	0.565031	0.19037	0	0.755437	0.99637	0	.	.	1.85	0.634	0.16889	0.827000	0.27075	-0.579000	0.08386	-0.398000	0.05312	0.991000	0.37257	0.000000	0.08366	0.005000	0.06747	0.0:0.1617:0.0:0.8383	5.605	0.16657	256	0.89942	.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0.4762	27722.43	155	chr2	95859975	.	C	T	27722.43	.	AC=20;AF=0.476;AN=42;BaseQRankSum=-2.800e-02;DP=3242;ExcessHet=43.6797;FS=2.825;InbreedingCoeff=-0.9091;MLEAC=20;MLEAF=0.476;MQ=58.97;MQRankSum=-9.484e+00;QD=8.72;ReadPosRankSum=-1.190e-01;SOR=0.794	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:121,42:163:99:0|1:95859969_A_AT:1388,0,4882:95859969	1	0	20	0
chr2	95859988	95859988	T	C	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon82:c.A4867G:p.R1623G,	.	.	946	377	143	56	0	255	0.252725	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.33	T	0.618	P	0.296	B	.	.	1.000	P	0.345	N	2.35	T	-1.040	T	0.022	T	0.211	-0.948	0.346	1.85	1.110	0.027	3.593	0.031	.	.	.	0.3985	0.4181	0.4615	0.4624	0.2601	0.3839	0.3829	0.4293	0.0005763	15	26028	rs78585559	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.034	0.44029	D	0.037	0.51737	D	0.618	0.39878	P	0.296	0.40883	B	.	.	.	.	1	0.08975	P	.	.	.	2.35	0.16217	T	-2.17	0.49018	N	0.036	0.01068	-1.0403	0.17223	T	0.022	0.09284	T	8	0.0021658242	0.00031	T	.	.	.	0.031	0.07369	.	.	.	.	0.01648333609809802	0.01603	.	.	0.464800566435	0.33968	T	0.014368	0.12243	T	-0.283116	0.10340	T	-0.644453	0.09348	T	0.0103390599998185	0.00141	T	0.690331	0.29972	T	0.11867667	0.27957	0.10622412	0.25550	0.11867667	0.27957	0.10622412	0.25549	-4.221	0.27055	T	.	.	0.167	0.36712	B	.	.	1.395340	0.18086	13.54	0.66348352263891242	0.08032	0.01091	0.04015	N	AEFI	0.037962	0.05300	N	-0.829849498643622	0.12552	0.6125249	-0.95288899799542	0.10856	0.5494909	1.69149918813486E-5	0.02871	0.632932	0.41330	0	0.666794	0.63253	0	0.565031	0.19037	0	0.755437	0.99637	0	.	.	1.85	1.85	0.24418	-0.401000	0.07293	-0.372000	0.09600	0.443000	0.21123	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.2013:0.0:0.7987	3.593	0.07545	256	0.89942	.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0.4762	24477.43	159	chr2	95859988	.	T	C	24477.43	.	AC=20;AF=0.476;AN=42;BaseQRankSum=0.265;DP=3203;ExcessHet=43.6797;FS=2.880;InbreedingCoeff=-0.9091;MLEAC=20;MLEAF=0.476;MQ=58.88;MQRankSum=-9.614e+00;QD=7.83;ReadPosRankSum=-7.870e-01;SOR=0.923	GT:AD:DP:GQ:PL	0/1:123,39:162:99:1269,0,3271	1	0	20	0
chr2	95860002	95860002	T	A	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon82:c.A4853T:p.H1618L,	.	.	945	422	104	51	0	206	0.19619	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.37	T	0.898	P	0.775	P	.	.	1.000	P	1.965	M	2.2	T	-0.998	T	0.066	T	0.49	0.033	4.184	-0.873	-0.207	1.019	2.065	0.098	.	.	.	0.2918	0.3574	0.4353	0.4062	0.1258	0.3207	0.2719	0.2565	0.0003842	10	26028	rs76379993	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.73	0.05165	T	0.898	0.49442	P	0.775	0.57058	P	.	.	.	.	1	0.08975	P	.	.	.	2.2	0.18570	T	-7.35	0.94620	D	0.157	0.16308	-0.9983	0.30395	T	0.066	0.27087	T	8	0.0024163425	0.00036	T	.	.	.	0.098	0.28162	.	.	.	.	0.011885642134936694	0.01148	.	.	0.603820681572	0.53443	T	0.17093	0.51885	T	-0.130986	0.31337	T	-0.425929	0.30399	T	0.0896707485037565	0.11179	T	0.667933	0.27701	T	0.5114563	0.67764	0.4059057	0.64978	0.5114563	0.67765	0.4059057	0.64978	-5.063	0.37516	T	.	.	0.223	0.45409	B	.	.	1.545032	0.19810	14.45	0.68803435199818186	0.08772	0.02181	0.06385	N	AEFI	0.047683	0.08056	N	-0.541266882709805	0.20758	1.096673	-0.816850501380551	0.14087	0.7342697	9.81280304122205E-6	0.01202	0.632932	0.41330	0	0.666794	0.63253	0	0.565031	0.19037	0	0.755437	0.99637	0	.	.	1.85	-0.873	0.10096	1.014000	0.29553	0.760000	0.21307	0.443000	0.21123	0.026000	0.20160	0.002000	0.18203	0.026000	0.12556	0.2602:0.3442:0.0:0.3955	2.065	0.03383	256	0.89942	.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0.4762	17994.43	154	chr2	95860002	.	T	A	17994.43	.	AC=20;AF=0.476;AN=42;BaseQRankSum=0.989;DP=3061;ExcessHet=43.6797;FS=3.053;InbreedingCoeff=-0.9091;MLEAC=20;MLEAF=0.476;MQ=58.84;MQRankSum=-9.029e+00;QD=6.03;ReadPosRankSum=-1.082e+00;SOR=0.963	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:127,39:166:99:0|1:95860002_T_A:1255,0,5129:95860002	1	0	20	0
chr2	95860007	95860007	A	T	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon82:c.T4848A:p.D1616E,	.	.	965	351	153	53	0	259	0.269511	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.73	T	0.886	P	0.685	P	.	.	1.000	P	1.1	L	2.36	T	-1.031	T	0.037	T	0.093	0.511	6.772	0.608	0.161	0.077	4.768	0.058	.	.	.	0.3716	0.3968	0.4638	0.4468	0.1996	0.3624	0.3348	0.3997	0.000461	12	26028	rs77658288	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	0.42199	D	0.887	0.03161	T	0.886	0.48745	P	0.685	0.53610	P	.	.	.	.	1	0.08975	P	.	.	.	2.36	0.16089	T	0.87	0.01688	N	0.018	0.00252	-1.0311	0.20099	T	0.037	0.16116	T	8	0.0017204583	0.00022	T	.	.	.	0.058	0.16647	0.102	0.01589	.	.	0.0016336715894167176	0.00151	.	.	0.627778291702	0.56830	T	0.00182	0.01242	T	-0.339353	0.05432	T	-0.725233	0.04547	T	0.0127801602154166	0.00217	T	0.50325	0.15827	T	0.05346143	0.10121	0.066788726	0.13731	0.05346143	0.10121	0.066788726	0.13730	-4.052	0.24579	T	.	.	0.276	0.50970	B	.	.	0.679021	0.10477	7.192	0.92075444711269228	0.21422	0.00300	0.01598	N	AEFI	0.017840	0.00496	N	-0.631580650889932	0.18000	0.9310604	-0.811362641984672	0.14221	0.7419123	9.14715249298931E-6	0.01202	0.632932	0.41330	0	0.666794	0.63253	0	0.565031	0.19037	0	0.755437	0.99637	0	.	.	1.85	0.608	0.16746	-0.101000	0.10943	-4.154000	0.02312	0.333000	0.19617	0.036000	0.20778	0.000000	0.08366	0.028000	0.12845	0.5619:0.0:0.0:0.4381	4.768	0.12514	256	0.89942	.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0.4762	21658.43	153	chr2	95860007	.	A	T	21658.43	.	AC=20;AF=0.476;AN=42;BaseQRankSum=1.16;DP=2998;ExcessHet=43.6797;FS=3.057;InbreedingCoeff=-0.9091;MLEAC=20;MLEAF=0.476;MQ=58.82;MQRankSum=-8.906e+00;QD=7.38;ReadPosRankSum=-1.059e+00;SOR=1.007	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:125,37:162:99:0|1:95860002_T_A:1177,0,5092:95860002	1	0	20	0
chr2	95860020	95860020	G	A	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon82:c.C4835T:p.T1612I,	.	.	975	346	149	52	0	253	0.267725	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.82	T	0.0	B	0.0	B	.	.	1.000	P	-1.385	N	2.38	T	-0.937	T	0.010	T	0.175	-3.138	0.001	0.635	0.138	3.039	5.605	0.071	.	.	.	0.3429	0.4093	0.4357	0.4212	0.1584	0.3445	0.2982	0.3516	0.0003842	10	26028	rs78780931	7.168e-07	5.473e-06	1.415e-06	0	9.285e-07	0	0	.	.	0	0	0	0	0	0	9.285e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	0.999979	0.18612	P	.	.	.	2.38	0.15843	T	3.02	0.00138	N	0.054	0.02559	-0.9370	0.43088	T	0.010	0.03627	T	8	0.0017494261	0.00022	T	.	.	.	0.071	0.20720	.	.	.	.	0.0033875092255602627	0.00316	.	.	0.597990691662	0.52621	T	2.31E-4	0.00048	T	-0.282657	0.10387	T	-0.643793	0.09394	T	0.00465201252591891	0.00050	T	0.257674	0.04066	T	0.036191136	0.04406	0.044979855	0.05950	0.036191136	0.04405	0.044979855	0.05949	-0.577	0.00632	T	.	.	0.124	0.26042	B	.	.	0.379084	0.07510	4.156	0.096937678722497284	0.00105	0.00352	0.01813	N	AEFI	0.013252	0.00170	N	-1.41969246255212	0.02466	0.1089284	-1.29164163050699	0.04543	0.2145151	1.02751695127801E-5	0.01202	0.632932	0.41330	0	0.666794	0.63253	0	0.565031	0.19037	0	0.755437	0.99637	0	.	.	1.85	0.635	0.16895	2.080000	0.41211	-0.435000	0.09196	-1.105000	0.01501	0.995000	0.38783	0.000000	0.08366	0.000000	0.00833	0.8383:0.0:0.1617:0.0	5.605	0.16657	256	0.89942	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4762	18382.43	145	chr2	95860020	.	G	A	18382.43	.	AC=20;AF=0.476;AN=42;BaseQRankSum=0.556;DP=2780;ExcessHet=43.6797;FS=4.214;InbreedingCoeff=-0.9091;MLEAC=20;MLEAF=0.476;MQ=58.76;MQRankSum=-8.652e+00;QD=6.86;ReadPosRankSum=-1.267e+00;SOR=1.096	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:116,31:147:99:0|1:95860020_G_A:953,0,4745:95860020	1	0	20	0
chr2	95860023	95860023	A	C	exonic	ANKRD36C	.	stopgain	ANKRD36C:NM_001310154:exon82:c.T4832G:p.L1611X,	.	.	975	348	147	52	0	251	0.265048	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.59	T	.	.	.	.	.	.	0.000	P	.	.	.	.	.	.	.	.	.	15.302	49	-0.698	-0.207	0.666	5.748	.	.	.	.	0.3459	0.4102	0.4378	0.4239	0.1587	0.3478	0.2957	0.3558	0.0004226	11	26028	rs74941794	0	6.841e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.64576e-15	0.58761	P	.	.	.	.	.	.	.	.	.	0.039	0.01274	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.464733	0.93127	D	0.429781	0.93041	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive	High	5.440231	0.90928	32	0.96148246009950666	0.28859	0.36954	0.25651	N	AEFI	0.088588	0.17958	N	-0.131946649004641	0.36007	2.075519	-0.471627380579264	0.22940	1.248476	9.52799824835323E-6	0.01202	0.632932	0.41330	0	0.666794	0.63253	0	0.565031	0.19037	0	0.755437	0.99637	0	.	.	1.85	-0.698	0.10713	0.445000	0.21392	-0.434000	0.09203	-1.250000	0.01303	0.993000	0.37899	0.000000	0.08366	0.002000	0.04165	0.6458:0.0:0.3542:0.0	5.748	0.17400	256	0.89942	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4762	17446.43	144	chr2	95860023	.	A	C	17446.43	.	AC=20;AF=0.476;AN=42;BaseQRankSum=1.97;DP=2699;ExcessHet=43.6797;FS=5.438;InbreedingCoeff=-0.9091;MLEAC=20;MLEAF=0.476;MQ=58.71;MQRankSum=-8.809e+00;QD=6.58;ReadPosRankSum=-1.356e+00;SOR=1.196	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:116,29:145:99:0|1:95860020_G_A:869,0,4751:95860020	1	0	20	0
chr2	95860046	95860046	C	A	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon82:c.G4809T:p.K1603N,	.	.	996	348	132	46	0	224	0.243478	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.64	T	0.0	B	0.0	B	.	.	1.000	P	-1.59	N	2.33	T	-0.964	T	0.008	T	0.055	-3.899	0.001	-2.51	-0.641	0.852	0.839	0.027	.	.	.	0.2995	0.4068	0.4155	0.3993	0.0859	0.3214	0.2411	0.2818	0.0869064	2262	26028	rs79908880	2.159e-06	4.789e-06	1.421e-06	2.916e-06	3.19e-05	5.8e-07	1.6e-07	3.1e-07	1.2e-07	3.19e-05	0	0	0	0	0	1.863e-06	0	0	1.972e-05	1.97e-05	2.57e-05	1.346e-05	2.94e-05	5.24e-06	2.45e-06	4.88e-06	1.83e-06	2.414e-05	0	0	0	0	0	0	2.94e-05	0	0	0.767	0.03412	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	P	.	.	.	2.33	0.16492	T	1.87	0.00472	N	0.043	0.01577	-0.9644	0.38330	T	0.008	0.02842	T	8	0.0017981231	0.00024	T	.	.	.	0.027	0.05988	0.388	0.40951	.	.	0.009782736317217211	0.00940	.	.	0.538346886635	0.44213	T	0.002324	0.01720	T	-0.380822	0.03079	T	-0.784801	0.02311	T	0.00124196999210505	0.00012	T	0.263374	0.04265	T	0.04313465	0.06669	0.036235157	0.03030	0.04313465	0.06669	0.036235157	0.03030	-0.766	0.00774	T	.	.	0.068	0.02639	B	.	.	-0.084979	0.03731	0.770	0.10447506845337422	0.00132	0.00336	0.01748	N	AEFI	0.012014	0.00120	N	-2.28437407882715	0.00049	0.002118662	-2.21407410585182	0.00104	0.004576006	2.08611004689468E-5	0.02871	0.632932	0.41330	0	0.666794	0.63253	0	0.657636	0.52715	0	0.755437	0.99637	0	.	.	1.85	-2.51	0.05996	1.202000	0.31878	0.062000	0.14145	-1.184000	0.01383	0.735000	0.28974	0.000000	0.08366	0.000000	0.00833	0.4851:0.195:0.1314:0.1885	0.839	0.01073	256	0.89942	.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0.4762	11608.43	114	chr2	95860046	.	C	A	11608.43	.	AC=20;AF=0.476;AN=42;BaseQRankSum=0.094;DP=2166;ExcessHet=43.6797;FS=7.428;InbreedingCoeff=-0.9091;MLEAC=20;MLEAF=0.476;MQ=58.39;MQRankSum=-9.225e+00;QD=5.60;ReadPosRankSum=-1.053e+00;SOR=1.366	GT:AD:DP:GQ:PL	0/1:92,23:115:99:690,0,2497	1	0	20	0
chr2	95927222	95927222	-	AT	exonic	ANKRD36C	.	frameshift insertion	ANKRD36C:NM_001310154:exon28:c.1930_1931insAT:p.S644Yfs*24,	.	.	585	748	183	6	0	195	0.115316	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0012	0.0015	0.0011	0.0019	0.0005	0.0013	0	0.0007	0.0009605	25	26028	rs745741068	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4762	19293.39	162	chr2	95927222	.	G	GAT	19293.39	.	AC=20;AF=0.476;AN=42;BaseQRankSum=2.91;DP=3244;ExcessHet=43.6797;FS=41.935;InbreedingCoeff=-0.9091;MLEAC=20;MLEAF=0.476;MQ=54.80;MQRankSum=-9.777e+00;QD=6.04;ReadPosRankSum=-5.428e+00;SOR=4.455	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:121,23:144:99:0|1:95927222_G_GAT:602,0,4983:95927222	1	0	20	0
chr2	95927227	95927228	TT	-	exonic	ANKRD36C	.	frameshift deletion	ANKRD36C:NM_001310154:exon28:c.1925_1926del:p.Q642Pfs*18,	.	.	630	694	193	5	0	203	0.127593	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0012	0.0015	0.0011	0.0019	0.0005	0.0013	0	0.0007	0.0009605	25	26028	rs772059065	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4762	28849.39	181	chr2	95927226	.	GTT	G	28849.39	.	AC=20;AF=0.476;AN=42;BaseQRankSum=3.24;DP=3663;ExcessHet=43.6797;FS=12.728;InbreedingCoeff=-0.9091;MLEAC=20;MLEAF=0.476;MQ=54.66;MQRankSum=-1.068e+01;QD=7.97;ReadPosRankSum=-5.292e+00;SOR=1.726	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:128,39:167:99:0|1:95927222_G_GAT:1252,0,5228:95927222	1	0	20	0
chr2	95927234	95927234	T	C	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon28:c.A1919G:p.E640G,	.	.	638	673	206	5	0	216	0.138284	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	.	.	.	.	.	.	1.000	N	2.045	M	-1.11	T	-0.526	T	0.427	T	0.17	0.495	6.683	0.578	0.482	1.675	.	0.149	0.00618498349042	.	.	0.0012	0.0016	0.0011	0.0019	0.0005	0.0013	0	0.0007	3.84e-05	1	26028	rs758839836	6.856e-07	6.84e-07	1.364e-06	0	9.007e-07	0	0	.	.	0	0	0	0	0	0	9.007e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.114	0.36765	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	-1.11	0.77466	T	-0.39	0.13611	N	0.176	0.18920	-0.5261	0.67688	T	0.427	0.77022	T	6	0.03557104	0.01812	T	0.006185	0.16200	T	0.149	0.39377	.	.	0.42989457901	0.42608	0.007308549639332476	0.00696	.	.	.	.	.	0.003258	0.02667	T	-0.0875605	0.38480	T	-0.363551	0.37640	T	0.0366356248361039	0.03091	T	0.168983	0.05631	T	0.062684655	0.13118	0.16541363	0.38267	0.062684655	0.13117	0.16541363	0.38267	-4.184	0.26519	T	.	.	0.130	0.27998	B	.;.	.;.	2.279132	0.29141	18.03	0.9497533031407277	0.25908	0.01715	0.05438	N	AEFBI	0.033788	0.04074	N	-0.603271583609637	0.18846	0.9816864	-0.856632057968517	0.13128	0.6793434	1.06943366512053E-5	0.01202	0.475973	0.10046	0	0.601575	0.49859	0	0.547309	0.15389	0	0.491896	0.07777	0	.	.	0.578	0.578	0.16575	1.624000	0.36629	-0.363000	0.09661	0.319000	0.19345	0.008000	0.17931	0.000000	0.08366	0.003000	0.05239	.	.	.	253	0.90069	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.4762	39187.43	200	chr2	95927234	.	T	C	39187.43	.	AC=20;AF=0.476;AN=42;BaseQRankSum=-1.176e+00;DP=4058;ExcessHet=43.6797;FS=7.313;InbreedingCoeff=-0.9091;MLEAC=20;MLEAF=0.476;MQ=54.37;MQRankSum=-1.145e+01;QD=9.76;ReadPosRankSum=-5.766e+00;SOR=1.238	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:136,49:185:99:0|1:95927222_G_GAT:1648,0,5563:95927222	1	0	20	0
chr2	95927252	95927252	A	G	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon28:c.T1901C:p.I634T,	.	.	674	623	216	9	0	234	0.158108	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.77	T	.	.	.	.	.	.	1.000	N	2.175	M	-1.08	T	-0.803	T	0.326	T	0.253	0.721	7.838	-1.16	-0.580	0.588	.	0.194	.	.	.	0.0825	0.1113	0.0839	0.1182	0.1114	0.0793	0.0608	0.0544	3.84e-05	1	26028	rs111976783	2.057e-06	2.052e-06	2.729e-06	1.378e-06	6.728e-05	5.5e-07	1.5e-07	1.784e-05	8.95e-06	0	6.728e-05	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.126	0.27194	T	0.194	0.28120	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	-1.08	0.77078	T	-0.99	0.26200	N	0.069	0.17278	-0.8026	0.54991	T	0.326	0.69410	T	6	0.0039491355	0.00076	T	.	.	.	0.194	0.47447	.	.	.	.	0.0049901546743311475	0.00471	.	.	.	.	.	0.003965	0.03373	T	-0.0895306	0.38154	T	-0.366381	0.37311	T	0.00782888568937778	0.00092	T	0.441356	0.12522	T	0.056561366	0.11145	0.12979923	0.31201	0.056561366	0.11144	0.12979923	0.31200	-5.925	0.50163	T	.	.	0.180	0.48715	B	.;.	.;.	1.251398	0.16483	12.57	0.92565402419728915	0.22018	0.00377	0.01912	N	AEFBI	0.031745	0.03455	N	-0.892394221719867	0.11022	0.5297326	-1.14952198102138	0.06776	0.3273419	1.22801436175958E-5	0.02871	0.475973	0.10046	0	0.601575	0.49859	0	0.547309	0.15389	0	0.491896	0.07777	0	.	.	0.578	-1.16	0.09181	0.550000	0.23052	-1.428000	0.05463	0.359000	0.20063	0.011000	0.18532	0.000000	0.08366	0.036000	0.13842	.	.	.	253	0.90069	.;.	.	.	.	.	.	Benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0.4762	71909.43	290	chr2	95927252	.	A	G	71909.43	.	AC=20;AF=0.476;AN=42;BaseQRankSum=-5.880e-01;DP=5309;ExcessHet=43.6797;FS=0.000;InbreedingCoeff=-0.9091;MLEAC=20;MLEAF=0.476;MQ=53.50;MQRankSum=-1.377e+01;QD=13.66;ReadPosRankSum=-5.061e+00;SOR=0.705	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:152,84:236:99:0|1:95927222_G_GAT:3070,0,6130:95927222	1	0	20	0
chr2	95927268	95927268	C	A	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon28:c.G1885T:p.D629Y,	.	.	676	613	224	9	0	242	0.16485	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	.	.	.	.	.	.	1.000	N	2.175	M	-1.1	T	-0.487	T	0.446	T	0.443	1.148	9.675	0.578	0.573	0.559	.	0.333	.	.	.	0.0990	0.1443	0.0896	0.1297	0.1231	0.0957	0.0823	0.0698	0.0779227	12047	154602	rs79307257	0	6.84e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	6.596e-06	6.571e-06	0	1.351e-05	1.477e-05	0	0	.	.	0	0	0	0	0	0	0	1.477e-05	0	0	0.001	0.78490	D	0.026	0.72224	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	-1.1	0.77336	T	-1.9	0.44284	N	0.173	0.51315	-0.4874	0.69100	T	0.446	0.78240	T	6	0.0048143566	0.00102	T	.	.	.	0.333	0.65522	.	.	.	.	0.012629181598714094	0.01221	.	.	.	.	.	0.007056	0.06479	T	-0.00641558	0.50765	T	-0.246992	0.50114	T	0.852545201778412	0.50387	D	0.59994	0.27277	T	0.11685397	0.27556	0.18900135	0.42222	0.11685397	0.27555	0.18900135	0.42221	-8.156	0.62848	D	.	.	0.178	0.50389	B	.;.	.;.	2.735108	0.35810	20.0	0.94629422228171811	0.25216	0.01477	0.04919	N	AEFBI	0.029319	0.02744	N	-0.591855003156469	0.19190	1.00245	-0.847697327138236	0.13343	0.6916549	1.13024900829832E-5	0.02871	0.475973	0.10046	0	0.601575	0.49859	0	0.547309	0.15389	0	0.491896	0.07777	0	.	.	0.578	0.578	0.16575	0.534000	0.22807	0.568000	0.19578	0.291000	0.18778	0.021000	0.19753	0.000000	0.08366	0.005000	0.06747	.	.	.	253	0.90069	.;.	.	.	.	.	.	Benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0.4762	99348.43	354	chr2	95927268	.	C	A	99348.43	.	AC=20;AF=0.476;AN=42;BaseQRankSum=-5.669e+00;DP=6340;ExcessHet=43.6797;FS=3.258;InbreedingCoeff=-0.9091;MLEAC=20;MLEAF=0.476;MQ=52.67;MQRankSum=-1.545e+01;QD=15.78;ReadPosRankSum=-3.350e+00;SOR=0.508	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:167,109:276:99:0|1:95927222_G_GAT:4013,0,6684:95927222	1	0	20	0
chr2	95927277	95927277	C	T	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon28:c.G1876A:p.D626N,	.	.	672	616	225	9	0	243	0.164746	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08	T	.	.	.	.	.	.	1.000	P	2.135	M	-1.07	T	-0.030	T	0.463	T	0.042	2.046	12.80	0.578	0.573	1.620	.	0.172	.	.	.	0.0982	0.1425	0.0884	0.1290	0.1219	0.0951	0.0815	0.0693	0.0779679	12054	154602	rs75189823	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009	0.57480	D	0.023	0.57104	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	P	.	.	.	-1.07	0.76948	T	-0.32	0.12283	N	0.045	0.10626	-0.0304	0.81622	T	0.463	0.79190	T	5	0.0036658943	0.00067	T	.	.	.	0.172	0.43662	.	.	.	.	0.0029834670744068	0.00278	.	.	.	.	.	0.001745	0.01167	T	-0.214699	0.18721	T	-0.546177	0.17695	T	0.0182863330978625	0.00547	T	0.726827	0.34112	T	0.056939475	0.11268	0.071558535	0.15336	0.056939475	0.11268	0.071558535	0.15336	-7.104	0.55237	T	.	.	0.131	0.35560	B	.;.	.;.	2.171628	0.27671	17.54	0.99663125085786775	0.78074	0.02072	0.06171	N	AEFBI	0.036161	0.04774	N	-0.595262529696858	0.19088	0.996275	-0.85090525598683	0.13266	0.6872205	1.13024900829832E-5	0.02871	0.475973	0.10046	0	0.601575	0.49859	0	0.547309	0.15389	0	0.491896	0.07777	0	.	.	0.578	0.578	0.16575	0.528000	0.22711	-1.180000	0.06099	0.291000	0.18778	0.002000	0.15269	0.000000	0.08366	0.003000	0.05239	.	.	.	253	0.90069	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4762	100976.43	370	chr2	95927277	.	C	T	100976.43	.	AC=20;AF=0.476;AN=42;BaseQRankSum=-6.195e+00;DP=6692;ExcessHet=43.6797;FS=2.488;InbreedingCoeff=-0.9091;MLEAC=20;MLEAF=0.476;MQ=52.63;MQRankSum=-1.581e+01;QD=15.46;ReadPosRankSum=-7.660e-01;SOR=0.502	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:174,112:286:99:0|1:95927222_G_GAT:4058,0,6857:95927222	1	0	20	0
chr2	95929092	95929092	T	C	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon26:c.A1817G:p.E606G,	.	.	442	885	194	1	0	196	0.0996948	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	.	.	.	.	.	.	1.000	P	.	.	-1.41	T	-0.324	T	0.401	T	0.195	1.779	11.91	0.871	0.621	1.851	3.983	0.197	.	.	.	0.0459	0.0589	0.0223	0.0330	0.0459	0.0434	0.0437	0.0722	0.0179806	468	26028	rs76434426	0	1.368e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.68238	D	0.12	0.48855	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	P	.	.	.	-1.41	0.80560	T	-0.78	0.21644	N	0.056	0.10626	-0.3240	0.74310	T	0.401	0.75223	T	5	0.0049548745	0.00106	T	.	.	.	0.197	0.47942	.	.	.	.	0.0054717690626164255	0.00517	.	.	.	.	.	0.005311	0.04761	T	-0.0584766	0.43144	T	-0.321774	0.42379	T	0.00563426744630397	0.00061	T	0.377662	0.09460	T	0.056738406	0.11204	0.0661094	0.13496	0.056738406	0.11203	0.0661094	0.13496	-3.88	0.22002	T	.	.	0.122	0.31279	B	.;.	.;.	2.425270	0.31191	18.67	0.9961510765788425	0.75052	0.01924	0.05874	N	AEFI	0.033909	0.04109	N	-0.600821869982756	0.18921	0.9861679	-0.827596025984616	0.13828	0.7194133	1.26041081260552E-5	0.02871	0.651	0.46895	0	0.546412	0.12157	0	0.565031	0.19037	0	0.683762	0.67416	0	.	.	0.871	0.871	0.18244	1.761000	0.38070	0.132000	0.15059	0.312000	0.19173	0.010000	0.18352	0.001000	0.17328	0.012000	0.09680	0.0:0.0:0.0:1.0	3.983	0.08994	253	0.90069	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.4762	41574.43	202	chr2	95929092	.	T	C	41574.43	.	AC=20;AF=0.476;AN=42;BaseQRankSum=0.846;DP=3927;ExcessHet=43.6797;FS=3.785;InbreedingCoeff=-0.9091;MLEAC=20;MLEAF=0.476;MQ=47.18;MQRankSum=-9.680e+00;QD=10.76;ReadPosRankSum=-3.033e+00;SOR=1.064	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:158,49:207:99:0|1:95929092_T_C:1513,0,6422:95929092	1	0	20	0
chr2	95929110	95929110	A	G	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon26:c.T1799C:p.I600T,	.	.	444	879	199	0	0	199	0.101686	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08	T	.	.	.	.	.	.	1.000	N	.	.	-1.17	T	-0.746	T	0.297	T	0.219	0.645	7.463	-0.637	-0.224	0.734	2.815	0.230	.	.	.	0.0502	0.0563	0.0250	0.0339	0.0515	0.0474	0.0455	0.0855	0.0009221	24	26028	rs80159651	0	6.84e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.056	0.38185	T	0.013	0.63109	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	-1.17	0.78199	T	-0.21	0.10308	N	0.064	0.13911	-0.7459	0.58149	T	0.297	0.66886	T	6	0.0053180456	0.00117	T	.	.	.	0.230	0.53062	.	.	.	.	0.00358464158390252	0.00335	.	.	.	.	.	5.76E-4	0.00232	T	-0.102964	0.35934	T	-0.385677	0.35058	T	0.00148509498065692	0.00015	T	0.430857	0.15541	T	0.03336381	0.03541	0.041758195	0.04819	0.03336381	0.03540	0.041758195	0.04819	-5.849	0.49914	T	.	.	0.141	0.47448	B	.;.	.;.	1.598186	0.20432	14.75	0.94716897870735495	0.25385	0.00401	0.02002	N	AEFI	0.028900	0.02629	N	-0.753193177697584	0.14546	0.7255317	-1.00196959350196	0.09742	0.4864572	9.46784315172941E-6	0.01202	0.651	0.46895	0	0.546412	0.12157	0	0.565031	0.19037	0	0.683762	0.67416	0	.	.	0.871	-0.637	0.10926	0.215000	0.17352	-1.249000	0.05911	0.351000	0.19951	0.001000	0.13787	0.000000	0.08366	0.003000	0.05239	0.4587:0.0:0.0:0.5413	2.815	0.05119	253	0.90069	.;.	.	.	.	.	.	Benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0.4762	51819.43	236	chr2	95929110	.	A	G	51819.43	.	AC=20;AF=0.476;AN=42;BaseQRankSum=9.99;DP=4508;ExcessHet=43.6797;FS=8.254;InbreedingCoeff=-0.9091;MLEAC=20;MLEAF=0.476;MQ=45.41;MQRankSum=-9.797e+00;QD=11.60;ReadPosRankSum=-2.111e+00;SOR=1.293	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:177,66:243:99:0|1:95929092_T_C:2229,0,7234:95929092	1	0	20	0
chr2	95929126	95929126	C	A	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon26:c.G1783T:p.D595Y,	.	.	442	865	215	0	0	215	0.11054	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	.	.	.	.	.	.	1.000	N	.	.	-0.96	T	-0.705	T	0.302	T	0.375	1.013	9.136	0.871	0.742	0.666	5.051	0.242	.	.	.	0.0287	0.0327	0.0149	0.0205	0.0260	0.0277	0.0293	0.0461	0.0009221	24	26028	rs79434735	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.005	0.72224	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	-0.96	0.75553	T	-1.05	0.27463	N	0.094	0.37717	-0.7052	0.60188	T	0.302	0.67344	T	6	0.007255286	0.00165	T	.	.	.	0.242	0.54781	.	.	.	.	0.01955586045237903	0.01909	.	.	.	.	.	0.003986	0.03393	T	-0.0187037	0.49039	T	-0.264643	0.48358	T	0.00831936897839858	0.00100	T	0.876612	0.58915	D	0.08026257	0.18380	0.06422837	0.12840	0.08026257	0.18380	0.06422837	0.12840	-7.935	0.60626	D	.	.	0.193	0.50147	B	.;.	.;.	1.372804	0.17831	13.39	0.93504610952685097	0.23313	0.02178	0.06379	N	AEFI	0.025243	0.01698	N	-0.59865468081622	0.18985	0.9901359	-0.821302082525131	0.13979	0.7281023	1.38702267383256E-5	0.02871	0.651	0.46895	0	0.546412	0.12157	0	0.565031	0.19037	0	0.683762	0.67416	0	.	.	0.871	0.871	0.18244	-0.066000	0.11556	0.673000	0.20610	0.284000	0.18682	0.001000	0.13787	0.001000	0.17328	0.010000	0.09038	0.0:1.0:0.0:0.0	5.051	0.13847	253	0.90069	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.4762	67411.43	272	chr2	95929126	.	C	A	67411.43	.	AC=20;AF=0.476;AN=42;BaseQRankSum=3.03;DP=5235;ExcessHet=43.6797;FS=15.425;InbreedingCoeff=-0.9091;MLEAC=20;MLEAF=0.476;MQ=44.20;MQRankSum=-1.062e+01;QD=12.98;ReadPosRankSum=-1.058e+00;SOR=1.642	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:193,77:270:99:0|1:95929092_T_C:2652,0,7872:95929092	1	0	20	0
chr2	95929130	95929130	G	C	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon26:c.C1779G:p.D593E,	.	.	442	863	217	0	0	217	0.111683	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	.	.	.	.	.	.	1.000	N	.	.	-0.99	T	-0.983	T	0.120	T	0.057	0.583	7.149	-0.054	-0.059	0.169	4.774	0.082	.	.	.	0.0281	0.0314	0.0152	0.0199	0.0259	0.0271	0.0289	0.0443	0.0009221	24	26028	rs375866621	5.512e-06	6.156e-06	6.857e-06	4.153e-06	7.204e-06	2.37e-06	1.71e-06	3.1e-06	2.24e-06	0	0	0	0	0	0	7.204e-06	0	0	6.603e-06	6.573e-06	1.29e-05	0	1.478e-05	0	0	.	.	0	0	0	0	0	0	0	1.478e-05	0	0	1.0	0.00964	T	0.215	0.26306	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	-0.99	0.75911	T	-0.17	0.09627	N	0.012	0.01274	-0.9830	0.34305	T	0.120	0.41886	T	6	0.0062747	0.00142	T	.	.	.	0.082	0.23913	0.088	0.00943	.	.	0.0012585486106362017	0.00115	.	.	.	.	.	6.61E-4	0.00291	T	-0.22299	0.17588	T	-0.558086	0.16556	T	0.0056942431256175	0.00062	T	0.361264	0.08382	T	0.030476715	0.02717	0.028199261	0.01033	0.030476715	0.02717	0.028199261	0.01033	1.103	0.00153	T	.	.	0.184	0.39898	B	.;.	.;.	-0.102250	0.03628	0.719	0.82362292130898662	0.14152	0.00009	0.00143	N	AEFI	0.011962	0.00118	N	-1.12759496650573	0.06156	0.2826552	-1.32800364383948	0.04072	0.1913117	8.82048009805059E-6	0.01202	0.651	0.46895	0	0.546412	0.12157	0	0.565031	0.19037	0	0.683762	0.67416	0	.	.	0.871	-0.0539	0.13146	0.175000	0.16577	-0.796000	0.07394	-0.724000	0.03774	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.0:0.5966:0.4034:0.0	4.774	0.12542	253	0.90069	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4762	71752.43	282	chr2	95929130	.	G	C	71752.43	.	AC=20;AF=0.476;AN=42;BaseQRankSum=5.49;DP=5406;ExcessHet=43.6797;FS=17.088;InbreedingCoeff=-0.9091;MLEAC=20;MLEAF=0.476;MQ=43.89;MQRankSum=-1.053e+01;QD=13.38;ReadPosRankSum=-8.420e-01;SOR=1.695	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:199,81:280:99:0|1:95929092_T_C:2798,0,8112:95929092	1	0	20	0
chr2	95929135	95929135	C	T	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon26:c.G1774A:p.D592N,	.	.	440	860	222	0	0	222	0.114315	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.48	T	.	.	.	.	.	.	1.000	N	.	.	-1.0	T	-0.975	T	0.178	T	0.032	1.786	11.93	-0.087	-0.070	0.689	3.151	0.061	.	.	.	0.0258	0.0286	0.0139	0.0184	0.0245	0.0251	0.0266	0.0399	0.0009221	24	26028	rs111462973	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	0.56456	D	0.31	0.26306	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	-1.0	0.76037	T	-0.29	0.11728	N	0.04	0.12341	-0.9745	0.36235	T	0.178	0.52334	T	6	0.0032269955	0.00055	T	.	.	.	0.061	0.17616	.	.	.	.	0.004280505726367948	0.00402	.	.	.	.	.	0.002625	0.02014	T	-0.209791	0.19408	T	-0.539127	0.18382	T	0.0104211887073546	0.00143	T	0.69513	0.30474	T	0.054424945	0.10441	0.04548125	0.06130	0.054424945	0.10440	0.04548125	0.06129	-6.736	0.52081	T	.	.	0.134	0.35352	B	.;.	.;.	2.140902	0.27259	17.40	0.99632098778018607	0.76081	0.00615	0.02724	N	AEFI	0.027355	0.02221	N	-0.807133128301253	0.13128	0.6445496	-1.03707422889346	0.08978	0.4441984	8.83579175512005E-6	0.01202	0.651	0.46895	0	0.653731	0.59785	0	0.565031	0.19037	0	0.683762	0.67416	0	.	.	0.871	-0.0868	0.13014	0.656000	0.24632	0.771000	0.21396	0.284000	0.18682	0.006000	0.17386	0.005000	0.19230	0.009000	0.08673	0.0:0.6672:0.0:0.3328	3.151	0.06100	253	0.90069	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4762	75077.43	291	chr2	95929135	.	C	T	75077.43	.	AC=20;AF=0.476;AN=42;BaseQRankSum=6.83;DP=5658;ExcessHet=43.6797;FS=16.868;InbreedingCoeff=-0.9091;MLEAC=20;MLEAF=0.476;MQ=43.43;MQRankSum=-1.046e+01;QD=13.67;ReadPosRankSum=-5.410e-01;SOR=1.771	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:200,86:286:99:.:.:2971,0,5150	1	0	20	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4286	8326.47	128	chr2	97185336	.	GC	G	8326.47	.	AC=18;AF=0.429;AN=42;BaseQRankSum=-1.019e+00;DP=2996;ExcessHet=30.0624;FS=4.061;InbreedingCoeff=-0.7500;MLEAC=18;MLEAF=0.429;MQ=47.34;MQRankSum=-5.879e+00;QD=3.14;ReadPosRankSum=0.218;SOR=0.380	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:146,13:159:99:0|1:97185336_GC_G:106,0,6091:97185336	3	0	18	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	.	.	.	.	.	.	1.000	N	.	.	.	.	.	.	.	.	.	3.980	20.4	-2.12	-0.664	0.022	1.483	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.4286	8253.51	130	chr2	97185340	.	C	G	8253.51	.	AC=18;AF=0.429;AN=42;BaseQRankSum=-6.260e-01;DP=3017;ExcessHet=30.0624;FS=4.061;InbreedingCoeff=-0.7500;MLEAC=18;MLEAF=0.429;MQ=47.09;MQRankSum=-5.804e+00;QD=3.07;ReadPosRankSum=0.809;SOR=0.378	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:152,13:165:88:0|1:97185336_GC_G:88,0,6343:97185336	3	0	18	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4286	8208.47	129	chr2	97185341	.	A	AG	8208.47	.	AC=18;AF=0.429;AN=42;BaseQRankSum=-5.080e-01;DP=3032;ExcessHet=30.0624;FS=4.061;InbreedingCoeff=-0.7500;MLEAC=18;MLEAF=0.429;MQ=47.00;MQRankSum=-5.688e+00;QD=3.04;ReadPosRankSum=0.926;SOR=0.382	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:154,13:167:82:0|1:97185336_GC_G:82,0,6427:97185336	3	0	18	0
chr2	97185346	97185349	TAAT	-	splicing	ANKRD36	.	.	.	.	.	500	739	281	2	0	285	0.161656	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1368364794	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4286	8186.47	138	chr2	97185345	.	GTAAT	G	8186.47	.	AC=18;AF=0.429;AN=42;BaseQRankSum=-8.550e-01;DP=3160;ExcessHet=30.0624;FS=4.006;InbreedingCoeff=-0.7500;MLEAC=18;MLEAF=0.429;MQ=46.27;MQRankSum=-5.168e+00;QD=2.89;ReadPosRankSum=1.92;SOR=0.394	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:163,14:177:97:0|1:97185336_GC_G:97,0,6753:97185336	3	0	18	0
chr2	97513220	97513220	G	A	exonic	ANKRD36B	.	nonsynonymous SNV	ANKRD36B:NM_025190:exon38:c.C2765T:p.A922V,	.	.	613	640	247	22	0	291	0.185232	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0963	0.0850	0.0216	0.0100	0.3296	0.0294	0.1310	0.0097	0.0001921	5	26028	rs80135902	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.01155	T	0.01	0.15535	B	0.002	0.06944	B	.	.	.	.	.	.	.	0	0.06538	N	.	.	.	.	.	.	0.031	0.15888	.	.	.	.	.	.	.	0.0024380386	0.00036	T	.	.	.	.	.	.	.	.	.	0.0030564260149934064	0.00284	.	.	0.613379478455	0.54794	T	0.007581	0.06977	T	-0.0927998	0.37613	T	-0.371077	0.36763	T	.	.	.	0.352565	0.07917	T	0.017845605	0.00308	0.067346	0.13920	0.017845605	0.00308	0.067346	0.13919	-1.943	0.02973	T	.	.	0.108	0.23709	B	.;.;.	.;.;.	0.756607	0.11265	7.891	0.24358559582250291	0.01073	0.00023	0.00238	N	AEFI	.	.	.	.	.	.	.	.	.	1.16123222590643E-6	0.01202	0.294411	0.05044	0	0.332522	0.05826	0	0.183335	0.04453	0	0.223356	0.04673	0	0.0495094	0.09020	1.25	-0.477	0.11493	0.374000	0.20232	-0.021000	0.12925	-0.716000	0.03877	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.7908:0.0:0.2092:0.0	4.611	0.11791	243	0.90483	.;.;.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0.5	66907.47	297	chr2	97513220	.	G	A	66907.47	.	AC=20;AF=0.500;AN=40;BaseQRankSum=-8.080e-01;DP=4067;ExcessHet=51.1880;FS=3.353;InbreedingCoeff=-1.0000;MLEAC=21;MLEAF=0.525;MQ=36.93;MQRankSum=-3.978e+00;QD=16.47;ReadPosRankSum=0.728;SOR=0.964	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:152,62:214:99:0|1:97513219_T_C:2146,0,6196:97513219	0	0	20	1
chr2	97513227	97513227	T	C	exonic	ANKRD36B	.	nonsynonymous SNV	ANKRD36B:NM_025190:exon38:c.A2758G:p.K920E,	.	.	611	640	249	22	0	293	0.186268	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0214	0.0529	0.0036	0	0.0702	0.0066	0.0682	0.0028	3.84e-05	1	26028	rs79390266	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.05707	T	0.544	0.37968	P	0.044	0.24394	B	.	.	.	.	.	.	.	1.445	0.36358	L	.	.	.	.	.	.	0.12	0.33250	.	.	.	.	.	.	.	0.0055945516	0.00124	T	.	.	.	.	.	.	.	0.168933306366	0.16529	0.003989330973675759	0.00373	.	.	0.735671639442	0.72336	T	0.033889	0.23100	T	-0.112291	0.34391	T	-0.399074	0.33492	T	.	.	.	0.369363	0.08678	T	0.05957855	0.12126	0.07929396	0.17837	0.05957855	0.12126	0.07929396	0.17837	-5.258	0.39526	T	.	.	0.142	0.33086	B	.;.;.	.;.;.	1.364301	0.17734	13.34	0.46228864402172176	0.03687	0.02246	0.06510	N	AEFI	.	.	.	.	.	.	.	.	.	4.68263816856013E-6	0.01202	0.294411	0.05044	0	0.332522	0.05826	0	0.183335	0.04453	0	0.223356	0.04673	0	0.103977	0.22772	1.25	1.25	0.20475	-0.034000	0.12176	-6.769000	0.01311	0.334000	0.19664	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.0:0.0:0.0:1.0	6.615	0.21965	243	0.90483	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.5	72691.47	317	chr2	97513227	.	T	C	72691.47	.	AC=20;AF=0.500;AN=40;BaseQRankSum=-1.090e-01;DP=4346;ExcessHet=51.1880;FS=3.354;InbreedingCoeff=-1.0000;MLEAC=21;MLEAF=0.525;MQ=37.18;MQRankSum=-4.153e+00;QD=17.02;ReadPosRankSum=0.711;SOR=0.962	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:154,67:221:99:0|1:97513219_T_C:2319,0,6244:97513219	0	0	20	1
chr2	97513244	97513244	G	T	exonic	ANKRD36B	.	nonsynonymous SNV	ANKRD36B:NM_025190:exon38:c.C2741A:p.P914Q,	.	.	595	624	272	31	0	334	0.211125	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0023	0.0143	0	0	0	0.0016	0	0	3.84e-05	1	26028	rs79527710	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.569	0.10391	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	.	.	.	-1.445	0.00556	N	.	.	.	.	.	.	0.188	0.27435	.	.	.	.	.	.	.	0.0063654184	0.00144	T	.	.	.	.	.	.	.	0.320256813643	0.31633	0.004245720093313631	0.00398	.	.	0.703683018684	0.67677	T	0.006209	0.05647	T	-0.125373	0.32247	T	-0.417866	0.31321	T	.	.	.	0.315568	0.06252	T	0.023773897	0.01146	0.07268516	0.15708	0.023773897	0.01146	0.07268516	0.15708	0.674	0.00180	T	.	.	0.102	0.17827	B	.;.;.	.;.;.	-0.119120	0.03530	0.672	0.19522481671669692	0.00662	0.00471	0.02257	N	AEFI	.	.	.	.	.	.	.	.	.	1.11447686844719E-6	0.01202	0.294411	0.05044	0	0.332522	0.05826	0	0.183335	0.04453	0	0.347871	0.05795	0	0.0495094	0.09020	1.25	-0.0318	0.13235	0.839000	0.27239	1.716000	0.28228	-0.610000	0.04588	0.997000	0.40164	0.949000	0.28973	0.001000	0.02609	0.2806:0.0:0.2874:0.432	2.311	0.03930	243	0.90483	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.5	88962.47	372	chr2	97513244	.	G	T	88962.47	.	AC=20;AF=0.500;AN=40;BaseQRankSum=-1.332e+00;DP=4960;ExcessHet=51.1880;FS=2.480;InbreedingCoeff=-1.0000;MLEAC=21;MLEAF=0.525;MQ=37.54;MQRankSum=-4.334e+00;QD=17.98;ReadPosRankSum=0.505;SOR=0.892	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:168,78:246:99:0|1:97513244_G_T:2769,0,6758:97513244	0	0	20	1
chr2	97513253	97513253	A	G	exonic	ANKRD36B	.	nonsynonymous SNV	ANKRD36B:NM_025190:exon38:c.T2732C:p.V911A,	.	.	594	617	279	32	0	343	0.217502	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0010	0.0083	0	0	0	0.0008	0	0	3.84e-05	1	26028	rs80295552	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.424	0.23914	T	0.008	0.14655	B	0.002	0.06944	B	.	.	.	.	.	.	.	0.69	0.16971	N	.	.	.	.	.	.	0.109	0.12627	.	.	.	.	.	.	.	0.00813821	0.00185	T	.	.	.	.	.	.	.	0.216624796971	0.21254	0.003043674037080383	0.00283	.	.	0.697517633438	0.66786	T	0.028597	0.20678	T	-0.148518	0.28543	T	-0.451112	0.27575	T	.	.	.	0.321068	0.06505	T	0.015220522	0.00128	0.050442122	0.07918	0.015220522	0.00128	0.050442122	0.07917	-2.994	0.10116	T	.	.	0.23	0.46273	B	.;.;.	.;.;.	0.168625	0.05582	2.036	0.46468697738120324	0.03724	0.00493	0.02333	N	AEFI	.	.	.	.	.	.	.	.	.	1.09581247054722E-6	0.01202	0.294411	0.05044	0	0.332522	0.05826	0	0.183335	0.04453	0	0.347871	0.05795	0	0.0502799	0.09584	1.25	0.037	0.13512	-0.176000	0.09802	-1.469000	0.05369	-0.632000	0.04510	0.008000	0.17931	0.000000	0.08366	0.002000	0.04165	0.5217:0.0:0.4783:0.0	4.080	0.09400	243	0.90483	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.5	94248.47	391	chr2	97513253	.	A	G	94248.47	.	AC=20;AF=0.500;AN=40;BaseQRankSum=-2.477e+00;DP=5204;ExcessHet=51.1880;FS=3.201;InbreedingCoeff=-1.0000;MLEAC=21;MLEAF=0.525;MQ=37.63;MQRankSum=-4.517e+00;QD=18.31;ReadPosRankSum=-7.500e-02;SOR=0.940	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:170,83:253:99:0|1:97513244_G_T:2953,0,6868:97513244	0	0	20	1
chr2	97513254	97513254	C	T	exonic	ANKRD36B	.	nonsynonymous SNV	ANKRD36B:NM_025190:exon38:c.G2731A:p.V911M,	.	.	594	616	280	32	0	344	0.218274	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0011	0.0076	0	0	0	0.0011	0	0	7.68e-05	2	26028	rs74341509	0.0001	0.0001	0.0001	0.0002	0.0002	0.0001	0.0001	0.0002	0.0001	0	0	0	0	0	0	0.0002	0.0002	0	8.256e-05	9.122e-05	7.317e-05	9.244e-05	0.0002	4.621e-05	3.529e-05	9.276e-05	7.178e-05	0	0	0	0	0	0	0	0.0002	0	0	.	.	.	0.098	0.39040	T	0.053	0.22573	B	0.004	0.10090	B	.	.	.	.	.	.	.	0.345	0.11182	N	.	.	.	.	.	.	0.115	0.14480	.	.	.	.	.	.	.	0.008039981	0.00183	T	.	.	.	.	.	.	.	0.201204373187	0.19734	0.004376723944163083	0.00411	.	.	0.681571960449	0.64493	T	0.010384	0.09385	T	-0.177895	0.24050	T	-0.493311	0.23044	T	.	.	.	0.538946	0.18179	T	0.01859633	0.00382	0.05722728	0.10366	0.01859633	0.00382	0.05722728	0.10366	-3.253	0.13139	T	.	.	0.167	0.37746	B	.;.;.	.;.;.	0.527632	0.08965	5.745	0.40177876468154022	0.02819	0.00378	0.01916	N	AEFI	.	.	.	.	.	.	.	.	.	1.15642168101809E-6	0.01202	0.294411	0.05044	0	0.332522	0.05826	0	0.183335	0.04453	0	0.347871	0.05795	0	0.0502799	0.09584	1.25	-0.662	0.10840	-0.590000	0.05854	-9.274000	0.00843	0.304000	0.19002	0.004000	0.16614	0.000000	0.08366	0.002000	0.04165	0.0:0.6788:0.0:0.3212	5.565	0.16451	243	0.90483	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.5	94578.47	389	chr2	97513254	.	C	T	94578.47	.	AC=20;AF=0.500;AN=40;BaseQRankSum=-2.107e+00;DP=5218;ExcessHet=51.1880;FS=3.233;InbreedingCoeff=-1.0000;MLEAC=21;MLEAF=0.525;MQ=37.64;MQRankSum=-4.596e+00;QD=18.37;ReadPosRankSum=8.000e-03;SOR=0.948	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:169,83:252:99:0|1:97513244_G_T:2956,0,6846:97513244	0	0	20	1
chr2	97513268	97513268	C	T	exonic	ANKRD36B	.	nonsynonymous SNV	ANKRD36B:NM_025190:exon38:c.G2717A:p.R906K,	.	.	591	591	298	42	0	382	0.244246	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2502	0.2966	0.2791	0.2632	0.3769	0.2470	0.2431	0.1747	0.0004995	13	26028	rs144131603	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.274	0.27235	T	0.119	0.26641	B	0.008	0.13708	B	.	.	.	.	.	.	.	1.495	0.37439	L	.	.	.	.	.	.	0.042	0.16028	.	.	.	.	.	.	.	0.002357304	0.00035	T	.	.	.	.	.	.	.	.	.	0.005747616653950952	0.00544	.	.	0.613570392132	0.54820	T	0.017136	0.14032	T	-0.187866	0.22573	T	-0.507633	0.21559	T	.	.	.	0.572743	0.20478	T	0.03131732	0.02950	0.0672792	0.13896	0.03131732	0.02950	0.0672792	0.13896	-3.791	0.20670	T	.	.	0.137	0.29968	B	.;.;.	.;.;.	-1.310648	0.00429	0.009	0.36842002943516644	0.02393	0.00779	0.03201	N	AEFI	.	.	.	.	.	.	.	.	.	1.25854079706441E-6	0.01202	0.294411	0.05044	0	0.332522	0.05826	0	0.078618	0.02440	0	0.347871	0.05795	0	0.0933222	0.21027	1.25	0.308	0.15062	-1.265000	0.02953	-5.898000	0.01560	-1.898000	0.00526	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.7823:0.0:0.2177	5.370	0.15434	243	0.90483	.;.;.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0.5	103442.47	407	chr2	97513268	.	C	T	103442.47	.	AC=20;AF=0.500;AN=40;BaseQRankSum=-9.430e-01;DP=5451;ExcessHet=51.1880;FS=3.211;InbreedingCoeff=-1.0000;MLEAC=21;MLEAF=0.525;MQ=37.99;MQRankSum=-5.011e+00;QD=19.09;ReadPosRankSum=-6.100e-01;SOR=0.929	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:173,95:268:99:0|1:97513268_C_T:3468,0,6958:97513268	0	0	20	1
chr2	97513270	97513270	A	C	exonic	ANKRD36B	.	stopgain	ANKRD36B:NM_025190:exon38:c.T2715G:p.Y905X,	.	.	591	592	298	41	0	380	0.242967	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2438	0.2932	0.2713	0.2615	0.3746	0.2394	0.2372	0.1697	0.0005763	15	26028	rs879468063	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.13	0.16586	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.361473	0.04047	T	-0.757008	0.03221	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.	.;.;.	3.385426	0.46848	22.4	0.44838944251633817	0.03476	0.03038	0.07927	N	AEFI	.	.	.	.	.	.	.	.	.	1.13426159498125E-6	0.01202	0.294411	0.05044	0	0.332522	0.05826	0	0.078618	0.02440	0	0.347871	0.05795	0	0.166916	0.28634	1.25	0.017	0.13431	-0.091000	0.11111	-1.488000	0.05326	0.375000	0.20354	0.013000	0.18845	0.000000	0.08366	0.003000	0.05239	0.7855:0.0:0.2145:0.0	4.462	0.11093	243	0.90483	.;.;.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0.5	89883.47	410	chr2	97513270	.	A	C	89883.47	.	AC=20;AF=0.500;AN=40;BaseQRankSum=-5.910e-01;DP=5493;ExcessHet=51.1880;FS=3.209;InbreedingCoeff=-1.0000;MLEAC=21;MLEAF=0.525;MQ=38.11;MQRankSum=-4.823e+00;QD=16.38;ReadPosRankSum=-7.770e-01;SOR=0.939	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:176,100:276:99:0|1:97513268_C_T:3568,0,7049:97513268	0	0	20	1
chr2	97513271	97513271	T	C	exonic	ANKRD36B	.	nonsynonymous SNV	ANKRD36B:NM_025190:exon38:c.A2714G:p.Y905C,	.	.	591	590	299	42	0	383	0.245042	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2908	0.3387	0.3276	0.3085	0.4114	0.2887	0.2821	0.2034	0.0006531	17	26028	rs146893214	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.128	0.56640	T	0.022	0.18677	B	0.002	0.06944	B	.	.	.	.	.	.	.	1.14	0.29013	L	.	.	.	.	.	.	0.149	0.51315	.	.	.	.	.	.	.	0.0020657778	0.00029	T	.	.	.	.	.	.	.	.	.	0.004479552258500605	0.00420	.	.	0.829705476761	0.86516	D	0.127676	0.45486	T	0.00706366	0.52624	T	-0.22763	0.52001	T	.	.	.	0.424058	0.11326	T	0.08367851	0.19332	0.12435671	0.29977	0.08367851	0.19332	0.12435671	0.29976	-3.342	0.14285	T	.	.	0.228	0.46049	B	.;.;.	.;.;.	2.163208	0.27562	17.50	0.45197924751744767	0.03530	0.10868	0.16248	N	AEFI	.	.	.	.	.	.	.	.	.	1.47313282737101E-6	0.01202	0.294411	0.05044	0	0.332522	0.05826	0	0.078618	0.02440	0	0.347871	0.05795	0	0.0933222	0.21027	1.25	1.25	0.20475	2.350000	0.43718	-0.293000	0.10176	0.334000	0.19664	0.983000	0.35670	0.000000	0.08366	0.004000	0.06068	0.0:0.2551:0.0:0.7449	3.086	0.05898	243	0.90483	.;.;.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0.5	104689.47	413	chr2	97513271	.	T	C	104689.47	.	AC=20;AF=0.500;AN=40;BaseQRankSum=-5.750e-01;DP=5492;ExcessHet=51.1880;FS=3.187;InbreedingCoeff=-1.0000;MLEAC=21;MLEAF=0.525;MQ=38.14;MQRankSum=-5.077e+00;QD=19.08;ReadPosRankSum=-6.500e-01;SOR=0.918	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:176,100:276:99:0|1:97513268_C_T:3568,0,7049:97513268	0	0	20	1
chr2	97513281	97513281	C	T	exonic	ANKRD36B	.	nonsynonymous SNV	ANKRD36B:NM_025190:exon38:c.G2704A:p.E902K,	.	.	587	587	303	45	0	393	0.250798	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4801	0.5496	0.4874	0.4823	0.5076	0.4642	0.4639	0.4735	0.0017529	271	154602	rs5011473	3.077e-05	0.0002	3.34e-05	2.81e-05	0.0001	2.332e-05	2.077e-05	3.145e-05	1.671e-05	0.0001	0	0	0	0.0007	0	2.729e-06	0	0	0	9.135e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	0.094	0.41573	T	0.98	0.59353	D	0.855	0.60933	P	.	.	.	.	.	.	.	1.765	0.45800	L	.	.	.	.	.	.	0.208	0.65758	.	.	.	.	.	.	.	0.002158165	0.00031	T	.	.	.	.	.	.	.	.	.	0.03228563945784759	0.03176	.	.	0.789947628975	0.80434	T	0.190084	0.54451	T	0.0749938	0.61451	D	-0.130053	0.60967	T	.	.	.	0.733627	0.34942	T	0.02507305	0.01405	0.09507035	0.22531	0.02507305	0.01404	0.09507035	0.22530	-6.657	0.51486	T	.	.	0.139	0.30476	B	.;.;.	.;.;.	2.117809	0.26958	17.30	0.4037492673049709	0.02845	0.56632	0.30167	D	AEFI	.	.	.	.	.	.	.	.	.	1.05171682619281E-5	0.01202	0.294411	0.05044	0	0.332522	0.05826	0	0.078618	0.02440	0	0.347871	0.05795	0	0.167599	0.28683	1.4	1.4	0.21393	3.749000	0.54867	0.048000	0.13961	-0.659000	0.04360	1.000000	0.71638	0.001000	0.17328	0.002000	0.04165	0.0:1.0:0.0:0.0	8.752	0.33786	243	0.90483	.;.;.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0.5	105794.47	411	chr2	97513281	.	C	T	105794.47	.	AC=20;AF=0.500;AN=40;BaseQRankSum=-1.198e+00;DP=5582;ExcessHet=51.1880;FS=2.445;InbreedingCoeff=-1.0000;MLEAC=21;MLEAF=0.525;MQ=38.48;MQRankSum=-5.580e+00;QD=19.09;ReadPosRankSum=-8.110e-01;SOR=0.890	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:179,106:285:99:0|1:97513268_C_T:3710,0,7020:97513268	0	0	20	1
chr2	97513354	97513354	T	C	exonic	ANKRD36B	.	nonsynonymous SNV	ANKRD36B:NM_025190:exon38:c.A2631G:p.I877M,	.	.	663	628	207	24	0	255	0.168762	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4962	0.4838	0.4975	0.4959	0.5008	0.4970	0.4959	0.4971	0.0692716	1803	26028	rs879259208	1.426e-06	2.057e-06	1.417e-06	1.436e-06	9.218e-07	2.4e-07	9e-08	.	.	0	0	0	0	0	0	9.218e-07	1.742e-05	0	3.782e-05	4.181e-05	5.896e-05	1.554e-05	0.0004	1.406e-05	9.03e-06	0.0001	9.02e-05	0	0	0.0004	0	0	0	0	0	0	0	.	.	.	0.093	0.39799	T	0.563	0.38396	P	0.061	0.26820	B	.	.	.	.	.	.	.	0.69	0.16971	N	.	.	.	.	.	.	0.086	0.34120	.	.	.	.	.	.	.	0.00250566	0.00038	T	.	.	.	.	.	.	.	.	.	0.005410322706841144	0.00512	.	.	0.634645044804	0.57804	T	0.046049	0.27308	T	-0.0562864	0.43486	T	-0.318628	0.42725	T	.	.	.	0.682432	0.29103	T	0.06877274	0.15009	0.14055093	0.33500	0.06877274	0.15009	0.14055093	0.33499	-5.398	0.40900	T	.	.	0.175	0.41387	B	.;.;.	.;.;.	2.260359	0.28881	17.94	0.78590890435183058	0.12367	0.19138	0.20543	N	AEFI	.	.	.	.	.	.	.	.	.	1.43761767599795E-6	0.01202	0.294411	0.05044	0	0.332522	0.05826	0	0.078618	0.02440	0	0.223356	0.04673	0	0.0910582	0.20564	1.4	1.4	0.21393	0.366000	0.20099	-0.250000	0.10515	0.334000	0.19664	0.995000	0.38783	0.000000	0.08366	0.026000	0.12556	0.3508:0.0:0.0:0.6492	3.561	0.07435	243	0.90483	.;.;.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0.5	27196.47	224	chr2	97513354	.	T	C	27196.47	.	AC=20;AF=0.500;AN=40;BaseQRankSum=1.66;DP=3353;ExcessHet=51.1880;FS=1.191;InbreedingCoeff=-1.0000;MLEAC=21;MLEAF=0.525;MQ=39.44;MQRankSum=-3.474e+00;QD=8.44;ReadPosRankSum=0.663;SOR=0.624	GT:AD:DP:GQ:PL	0/1:98,67:165:99:1491,0,2285	0	0	20	1
chr2	98397175	98397175	G	C	exonic	CNGA3	.	nonsynonymous SNV	CNGA3:NM_001079878:exon7:c.G1951C:p.V651L	Achromatopsia 2, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	885774	Achromatopsia_2|not_provided	MONDO:MONDO:0009003,MedGen:C1857618,OMIM:216900,Orphanet:49382|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	1	T	0.0	B	0.001	B	0.000	N	0.927	D	0.505	N	-4.19	D	-0.113	T	0.678	D	0.039	-0.995	0.268	1.56	0.109	-0.028	6.317	0.286	0.0316259657648	0.0002	.	8.397e-05	0	0	0	0	0.0001	0.0011	0	0.0001035	16	154602	rs148496805	9.167e-05	9.166e-05	9.529e-05	8.801e-05	0.0002	7.891e-05	7.365e-05	9.203e-05	8.612e-05	2.987e-05	2.236e-05	0	0	1.874e-05	0.0002	0.0001	0.0001	1.159e-05	0.0001	0.0001	0.0001	8.069e-05	0.0002	7.09e-05	5.746e-05	0.0001	0.0001	0	0	0	0	0	0	0	0.0002	0.0005	0	0.892	0.03289	T	0.861	0.03399	T	0.0	0.02946	B	0.001	0.04355	B	0.000101	0.51296	N	0.172600	0.927342	0.36862	D	1.41	0.35535	L	-4.24	0.97394	D	-0.17	0.09627	N	0.02	0.13911	-0.1132	0.79793	T	0.678	0.88855	D	10	0.040115446	0.02553	T	0.031626	0.53663	D	0.286	0.60456	0.197	0.10975	0.804374619938	0.80255	0.09062399669407038	0.08995	0.0971038161414	0.10970	0.311932623386	0.12198	T	0.039017	0.25043	T	-0.247697	0.14383	T	-0.33853	0.40512	T	0.0157816986806412	0.00367	T	0.668933	0.27772	T	0.310859	0.53860	0.0971345	0.23108	0.310859	0.53860	0.0971345	0.23107	-1.378	0.01631	T	.	.	0.110	0.21466	B	.;.;.;.	.;.;.;.	0.764580	0.11341	7.962	0.44932943162929706	0.03490	0.37477	0.25771	N	AEFBI	0.343264	0.43914	N	-1.11032061209616	0.06459	0.297378	-1.00482894387669	0.09679	0.4829268	0.00952608698063835	0.11869	0.446893	0.09132	0	0.563428	0.19063	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	5.42	1.56	0.22423	0.577000	0.23461	1.265000	0.25255	-0.119000	0.14319	0.999000	0.42656	0.992000	0.31684	0.891000	0.42908	0.2308:0.1336:0.6356:0.0	6.317	0.20404	279	0.89001	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	2135.98	35	chr2	98397175	.	G	C	2135.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.20;DP=864;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.26;ReadPosRankSum=0.912;SOR=0.693	GT:AD:DP:GQ:PL	0/1:61,79:140:99:2150,0,1599	20	0	1	0
chr2	100990275	100990275	G	A	exonic	NPAS2	.	nonsynonymous SNV	NPAS2:NM_002518:exon18:c.G1847A:p.S616N,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.41	T	0.08	B	0.041	B	0.577	N	0.779	D	1.01	L	3.33	T	-1.020	T	0.016	T	0.078	1.441	10.76	4.02	2.257	4.312	11.371	0.084	0.00783798203008	0.0002	0.000199681	3.299e-05	0.0004	0	0	0	0	0	0	3.23e-05	5	154602	rs143362961	1.437e-05	1.436e-05	1.906e-05	9.626e-06	0.0004	9.23e-06	7.84e-06	0.0002	0.0002	0.0004	0	0	0	0	0.0002	3.597e-06	6.623e-05	0	0.0001	0.0001	0.0001	0.0001	0.0004	8.165e-05	6.721e-05	0.0002	0.0002	0.0004	0	6.533e-05	0	0	0	0	1.47e-05	0.0005	0	0.157	0.23997	T	0.369	0.16522	T	0.005	0.12996	B	0.008	0.13708	B	0.577120	0.11180	N	0.827143	0.778907	0.34242	D	1.39	0.34934	L	3.33	0.06138	T	-0.58	0.17417	N	0.325	0.36569	-1.0201	0.23682	T	0.016	0.06569	T	10	0.06159237	0.07746	T	0.007838	0.20798	T	0.084	0.24469	.	.	0.358880540497	0.35496	0.44241506983029927	0.44158	0.410812321046	0.41857	0.398588299751	0.24871	T	0.064385	0.32421	T	-0.509784	0.00503	T	-0.664069	0.07995	T	0.0674581540444281	0.08290	T	0.637336	0.25103	T	0.04595931	0.07611	0.069163255	0.14538	0.04595931	0.07611	0.069163255	0.14537	-5.42	0.41111	T	0.18549396345850747	0.24104	0.082	0.08609	B	.	.	2.967187	0.39537	21.0	0.95776504805852336	0.27791	0.91847	0.54391	D	AEFDBI	0.386594	0.46690	N	-0.322218646608025	0.28307	1.56018	-0.208973575683087	0.31213	1.764342	0.999645513570549	0.41316	0.706548	0.73137	0	0.573888	0.26702	0	0.603688	0.36954	0	0.714379	0.83352	0	.	.	4.91	4.02	0.45968	4.438000	0.59704	4.128000	0.42014	0.676000	0.76740	0.991000	0.37257	1.000000	0.68203	0.665000	0.33109	0.089:0.0:0.911:0.0	11.371	0.48940	725	0.54935	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1032.98	40	chr2	100990275	.	G	A	1032.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.180e-01;DP=797;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.93;ReadPosRankSum=0.928;SOR=0.667	GT:AD:DP:GQ:PL	0/1:62,42:104:99:1047,0,1770	20	0	1	0
chr2	100990829	100990829	G	A	exonic	NPAS2	.	nonsynonymous SNV	NPAS2:NM_002518:exon19:c.G2068A:p.A690T,	.	.	419	1101	2	0	0	2	0.000907441	.	.	707625	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.15	T	0.414	B	0.021	B	0.330	N	1.000	N	1.575	L	3.42	T	-1.081	T	0.034	T	0.374	2.481	14.25	3.76	1.074	1.510	9.345	0.051	.	0.0109	0.00858626	0.0032	0.0329	0.0015	0.0001	0	0.0004	0.0033	0.0002	0.0030659	474	154602	rs58728948	0.0010	0.0010	0.0012	0.0009	0.0303	0.0010	0.0010	0.0288	0.0282	0.0303	0.0023	0	0	0	0.0035	0.0002	0.0024	0.0001	0.0091	0.0091	0.0092	0.0089	0.0310	0.0087	0.0085	0.0296	0.0290	0.0310	0	0.0032	0	0	0	0.0068	0.0004	0.0071	0.0002	0.045	0.40832	D	0.176	0.29843	T	0.291	0.32334	B	0.009	0.14300	B	0.330267	0.14125	N	0.714951	0.999968	0.18878	N	1.735	0.44892	L	3.42	0.05507	T	-0.55	0.16799	N	0.357	0.39861	-1.0808	0.07194	T	0.034	0.14683	T	10	0.0067507327	0.00153	T	.	.	.	0.077	0.22490	.	.	0.262679179196	0.25893	0.274744352450568	0.27387	0.279076304862	0.30389	0.498855113983	0.38669	T	0.057268	0.30520	T	-0.503138	0.00549	T	-0.472502	0.25246	T	0.00369850412270088	0.00039	T	0.684232	0.29249	T	0.043181885	0.06686	0.069592394	0.14681	0.04169522	0.06188	0.06327837	0.12510	-3.717	0.19569	T	0.15737680073383442	0.19000	0.068	0.02861	B	.	.	2.432986	0.31299	18.70	0.993329140946139	0.59856	0.14924	0.18655	N	AEFDBI	0.062303	0.11968	N	-0.230922418718729	0.31872	1.791509	-0.290514434701946	0.28410	1.583879	0.99996262294433	0.48965	0.706548	0.73137	0	0.573888	0.26702	0	0.717052	0.78885	0	0.714379	0.83352	0	.	.	4.63	3.76	0.42368	1.678000	0.37202	3.998000	0.41048	0.676000	0.76740	0.568000	0.27489	0.990000	0.31317	0.945000	0.48827	0.1656:0.0:0.8344:0.0	9.345	0.37265	725	0.54935	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1549.98	38	chr2	100990829	.	G	A	1549.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.817;DP=876;ExcessHet=0.0000;FS=3.515;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.66;ReadPosRankSum=-2.680e-01;SOR=0.848	GT:AD:DP:GQ:PL	0/1:108,71:179:99:1564,0,2420	20	0	1	0
chr2	101405990	101405992	AGA	-	exonic	RFX8	.	nonframeshift deletion	RFX8:NM_001367510:exon9:c.366_368del:p.L123del	.	.	416	1099	7	0	0	7	0.0031746	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0090	0.00878594	0.0031	0.0261	0.0097	0	0	0.0005	0.0041	0.0001	0.0007827	121	154602	rs140084999	0.0010	0.0010	0.0011	0.0010	0.0316	0.0010	0.0010	0.0300	0.0294	0.0316	0.0027	3.974e-05	0	0	0.0060	0.0001	0.0032	0.0002	0.0083	0.0083	0.0084	0.0081	0.0270	0.0079	0.0077	0.0257	0.0251	0.0270	0	0.0066	0	0	0	0.0068	0.0003	0.0066	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1266.94	36	chr2	101405989	.	GAGA	G	1266.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.747;DP=781;ExcessHet=0.0000;FS=2.021;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=18.63;ReadPosRankSum=-3.870e-01;SOR=0.757	GT:AD:DP:GQ:PL	0/1:35,33:68:99:1281,0,1350	20	0	1	0
chr2	108259015	108259015	G	0	exonic	SULT1C3	.	.	.	.	.	441	128	465	180	308	1133	0.763182	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5952	55301.27	201	chr2	108259015	.	G	T,*	55301.27	.	AC=18,12;AF=0.429,0.286;AN=42;BaseQRankSum=2.01;DP=3832;ExcessHet=0.0944;FS=0.000;InbreedingCoeff=0.3000;MLEAC=18,12;MLEAF=0.429,0.286;MQ=60.00;MQRankSum=0.00;QD=15.51;ReadPosRankSum=-1.780e-01;SOR=0.682	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:114,115,0:229:99:.:.:3133,0,2896,3475,3241,6716	3	5	3	0
chr2	111130132	111130132	T	C	exonic	BCL2L11	.	nonsynonymous SNV	BCL2L11:NM_138625:exon3:c.T125C:p.V42A,	.	.	564	957	1	0	0	1	0.000522193	0.0001	0.058	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00299521	0	0	0	0	.	0	0	0	0.0008452	22	26028	rs112161660	0.0002	0.0002	0.0003	0.0002	0.0081	0.0002	0.0002	0.0056	0.0048	0.0081	0.0006	0.0001	0	0	0.0026	2.457e-05	0.0006	6.462e-05	0.0032	0.0032	0.0033	0.0031	0.0112	0.0030	0.0029	0.0104	0.0100	0.0112	0	0.0009	0	0	0	0.0035	1.482e-05	0.0024	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.025	1296.33	37	chr2	111130132	.	T	C	1296.33	.	AC=1;AF=0.025;AN=40;BaseQRankSum=0.509;DP=860;ExcessHet=0.0000;FS=1.919;InbreedingCoeff=-0.0256;MLEAC=1;MLEAF=0.025;MQ=60.00;MQRankSum=0.00;QD=16.20;ReadPosRankSum=0.339;SOR=1.041	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:44,36:80:99:0|1:111130126_T_A:1310,0,1708:111130126	19	0	1	1
chr2	113185994	113185994	C	G	exonic	PSD4	.	nonsynonymous SNV	PSD4:NM_012455:exon5:c.C1367G:p.P456R,	.	.	409	1112	1	0	0	1	0.000449438	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.18	T	0.009	B	0.016	B	0.519	N	1.000	N	0.345	N	2.87	T	-0.953	T	0.012	T	0.117	0.365	5.979	-0.978	-0.413	-0.491	4.860	0.007	.	0.0034	0.00259585	0.0011	0.0114	0.0009	0	0	1.506e-05	0	0.0002	0.0009896	153	154602	rs45598832	0.0003	0.0003	0.0004	0.0003	0.0114	0.0003	0.0003	0.0104	0.0100	0.0114	0.0005	0	0	0	0.0016	1.349e-05	0.0008	9.275e-05	0.0029	0.0029	0.0030	0.0028	0.0099	0.0027	0.0026	0.0091	0.0088	0.0099	0	0.0010	0	0	0	0	2.939e-05	0.0043	0	0.056	0.38863	T	0.231	0.43721	T	0.005	0.15093	B	0.007	0.17743	B	0.518645	0.05189	N	1.254850	1	0.08975	N	0.625	0.15840	N	2.87	0.10674	T	-2.86	0.61580	D	0.064	0.13341	-0.9533	0.40398	T	0.012	0.04605	T	10	0.003740698	0.00070	T	.	.	.	0.007	0.00512	.	.	0.082315109003	0.07666	0.15572927501314926	0.15493	0.101288994905	0.11461	0.396433055401	0.24573	T	0.02095	0.16402	T	-0.657032	0.00066	T	-0.705527	0.05529	T	0.00555903308848274	0.00061	T	0.492951	0.15215	T	0.10697757	0.25296	0.08920789	0.20848	0.10697757	0.25296	0.08920789	0.20847	-4.871	0.35407	T	.	.	0.078	0.14015	B	.;.	.;.	0.948055	0.13241	9.741	0.92345533512221134	0.21745	0.05870	0.11817	N	AEFDBCI	0.068597	0.13540	N	-1.23546768053028	0.04495	0.2029871	-1.24598956860662	0.05190	0.2467265	0.999949088397145	0.47345	0.67177	0.52595	0	0.702456	0.74545	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.0	-0.978	0.09754	-0.352000	0.07750	-0.802000	0.07370	-0.176000	0.10722	0.000000	0.06391	0.000000	0.08366	0.484000	0.28656	0.0:0.4033:0.1535:0.4433	4.860	0.12938	607	0.67291	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1178.98	43	chr2	113185994	.	C	G	1178.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.247e+00;DP=881;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.55;ReadPosRankSum=2.27;SOR=0.642	GT:AD:DP:GQ:PL	0/1:37,50:87:99:1193,0,893	20	0	1	0
chr2	130120158	130120268	AAGCGCCCACCTTGCTCTTGCTGCTCCCCCTGCAGCAGGGGAAGCAGTGGCAGCACCACTTGCCCATCTTGTTCCTGAGTGTCTTCATAGCAGAGTCGTCGTGGTCTCCAG	-	exonic	POTEF	.	nonframeshift deletion	POTEF:NM_001099771:exon3:c.248_358del:p.S83_A119del,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.686e-06	6.575e-06	0	1.37e-05	1.477e-05	0	0	.	.	0	0	0	0	0	0	0	1.477e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1768.94	75	chr2	130120157	.	CAAGCGCCCACCTTGCTCTTGCTGCTCCCCCTGCAGCAGGGGAAGCAGTGGCAGCACCACTTGCCCATCTTGTTCCTGAGTGTCTTCATAGCAGAGTCGTCGTGGTCTCCAG	C	1768.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.380e+00;DP=1584;ExcessHet=0.0000;FS=11.964;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=52.73;MQRankSum=-1.306e+01;QD=4.41;ReadPosRankSum=2.46;SOR=1.552	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:306,95:401:99:0|1:130120157_CAAGCGCCCACCTTGCTCTTGCTGCTCCCCCTGCAGCAGGGGAAGCAGTGGCAGCACCACTTGCCCATCTTGTTCCTGAGTGTCTTCATAGCAGAGTCGTCGTGGTCTCCAG_C:1783,0,12278:130120157	20	0	1	0
chr2	130120179	130120179	T	0	exonic	POTEF	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6429	88519.64	228	chr2	130120179	.	T	C,*	88519.64	.	AC=26,1;AF=0.619,0.024;AN=42;BaseQRankSum=-4.490e-01;DP=4771;ExcessHet=0.1361;FS=7.097;InbreedingCoeff=0.2741;MLEAC=26,1;MLEAF=0.619,0.024;MQ=44.81;MQRankSum=-1.564e+01;QD=20.24;ReadPosRankSum=1.33;SOR=1.210	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:271,0,94:366:99:1|0:130120157_CAAGCGCCCACCTTGCTCTTGCTGCTCCCCCTGCAGCAGGGGAAGCAGTGGCAGCACCACTTGCCCATCTTGTTCCTGAGTGTCTTCATAGCAGAGTCGTCGTGGTCTCCAG_C:3434,3801,14868,0,11237,10899:130120157	4	10	6	0
chr2	130190514	130190514	C	T	exonic	MZT2B	.	nonsynonymous SNV	MZT2B:NM_025029:exon3:c.C365T:p.A122V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	0.027	B	0.004	B	0.001	N	0.939	N	1.355	L	1.18	T	-1.040	T	0.049	T	0.431	1.165	9.743	1.56	0.845	0.012	5.119	0.019	.	0.0062	0.00479233	0.0072	0.0013	0.0098	0	0.0056	0.0105	0.0011	0.0007	0.0068046	1052	154602	rs71422855	0.0096	0.0096	0.0099	0.0094	0.0118	0.0095	0.0095	0.0112	0.0111	0.0016	0.0118	0.0028	2.519e-05	0.0054	0.0021	0.0113	0.0073	0.0009	0.0066	0.0066	0.0068	0.0064	0.0134	0.0063	0.0062	0.0119	0.0113	0.0020	0	0.0134	0.0012	0	0.0039	0	0.0095	0.0118	0.0006	0.086	0.32610	T	0.358	0.38891	T	0.027	0.19556	B	0.004	0.10090	B	0.000641	0.42656	N	0.193928	0.938784	0.26854	N	1.67	0.42885	L	1.18	0.40469	T	-1.05	0.27463	N	0.149	0.17691	-1.0400	0.17313	T	0.049	0.20711	T	10	0.008834392	0.00200	T	.	.	.	0.092	0.26621	.	.	0.0675242888579	0.06100	0.19178452858981054	0.19096	0.113003848232	0.12758	0.752900362015	0.74875	T	0.032771	0.22630	T	-0.477123	0.00769	T	-0.447099	0.28016	T	0.011410623123378	0.00170	T	0.570043	0.24237	T	0.02542247	0.01478	0.04821855	0.07116	0.02542247	0.01478	0.04821855	0.07115	-4.928	0.36049	T	.	.	0.092	0.15160	B	.;.;.	.;.;.	1.035539	0.14157	10.73	0.98886800414336573	0.47930	0.22856	0.21886	N	AEFDBHCI	0.229719	0.35320	N	-0.318191509234871	0.28457	1.569763	-0.388182060389018	0.25349	1.393453	0.0304415250533012	0.13944	0.67177	0.52595	0	0.643519	0.57511	0	0.643519	0.47002	0	0.711	0.71501	0	.	.	3.59	1.56	0.22423	-0.051000	0.11840	.	.	-0.284000	0.06380	0.047000	0.21291	0.009000	0.19889	0.009000	0.08673	0.0:0.5283:0.3443:0.1274	5.119	0.14186	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	0.02381	1180.98	36	chr2	130190514	.	C	T	1180.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.19;DP=928;ExcessHet=0.0000;FS=0.770;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.30;ReadPosRankSum=0.162;SOR=0.565	GT:AD:DP:GQ:PL	0/1:53,43:96:99:1195,0,1422	20	0	1	0
chr2	140358851	140358851	C	T	exonic	LRP1B	.	nonsynonymous SNV	LRP1B:NM_018557:exon73:c.G11227A:p.G3743S,	.	.	430	1071	21	0	0	21	0.00970874	.	.	697032	LRP1B-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.3	T	1.0	D	0.998	D	0.000	U	1.000	D	1.74	L	0.29	T	-0.626	T	0.271	T	0.58	4.251	22.1	5.46	2.563	6.968	18.890	0.364	.	0.0045	0.00199681	0.0076	0.0013	0.0040	0	0.0071	0.0113	0.0044	0.0032	0.0072962	1128	154602	rs150879175	0.0078	0.0078	0.0079	0.0078	0.0091	0.0077	0.0077	0.0086	0.0086	0.0011	0.0047	0.0097	0	0.0057	0.0091	0.0088	0.0080	0.0040	0.0058	0.0059	0.0059	0.0057	0.0086	0.0055	0.0054	0.0080	0.0078	0.0018	0.0175	0.0061	0.0095	0	0.0051	0.0170	0.0086	0.0067	0.0023	0.1	0.30515	T	0.026	0.55759	D	1.0	0.90584	D	0.998	0.88582	D	0.000000	0.84330	U	0.000000	0.999998	0.58761	D	2.225	0.63025	M	0.29	0.58897	T	-3.74	0.71042	D	0.785	0.78167	-0.6265	0.63718	T	0.271	0.64287	T	10	0.020279229	0.00465	T	.	.	.	0.364	0.68407	.	.	0.437548520547	0.43377	0.742218091707543	0.74167	0.643894883578	0.57912	0.677682161331	0.63936	T	0.614866	0.87846	D	-0.318003	0.07062	T	-0.220171	0.52720	T	0.0125632009717149	0.00209	T	0.937806	0.76632	D	0.46296924	0.64855	0.395204	0.64194	0.46296924	0.64856	0.395204	0.64194	-6.395	0.49471	T	.	.	0.205	0.43032	B	.	.	4.004765	0.59035	24.1	0.99757863771458	0.84772	0.98990	0.89628	D	AEFI	0.867069	0.78671	D	0.59363715963284	0.72776	5.859329	0.561653421101137	0.72213	5.774325	0.999984126455935	0.51787	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.46	5.46	0.80021	7.067000	0.76435	.	.	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.580000	0.30894	0.0:1.0:0.0:0.0	18.890	0.92370	919	0.19497	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	2142.98	34	chr2	140358851	.	C	T	2142.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.670e-01;DP=926;ExcessHet=0.0000;FS=0.497;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.83;ReadPosRankSum=-9.780e-01;SOR=0.638	GT:AD:DP:GQ:PL	0/1:119,99:218:99:2157,0,2683	20	0	1	0
chr2	140541066	140541066	C	T	exonic	LRP1B	.	nonsynonymous SNV	LRP1B:NM_018557:exon45:c.G7420A:p.G2474S,	.	.	430	1082	10	0	0	10	0.00459982	.	.	697034	LRP1B-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.05	D	1.0	D	0.998	D	0.000	D	1.000	D	3.765	H	-2.69	D	0.842	D	0.877	D	0.899	6.102	37	6.03	2.861	7.697	20.557	0.807	.	0.0065	0.00479233	0.0058	0.0005	0.0049	0	0.0020	0.0088	0.0066	0.0025	0.0060219	931	154602	rs146867394	0.0082	0.0082	0.0082	0.0081	0.0097	0.0080	0.0080	0.0095	0.0095	0.0012	0.0050	0.0030	0	0.0026	0.0063	0.0097	0.0068	0.0026	0.0056	0.0056	0.0060	0.0052	0.0090	0.0053	0.0052	0.0085	0.0082	0.0019	0.0022	0.0068	0.0032	0	0.0016	0.0068	0.0090	0.0085	0.0023	0.005	0.63226	D	0.0	0.92824	D	1.0	0.90584	D	0.998	0.88582	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.29	0.90338	M	-2.69	0.90451	D	-4.44	0.77637	D	0.926	0.93018	0.842	0.94924	D	0.877	0.95904	D	10	0.017781049	0.00382	T	.	.	.	0.807	0.93738	.	.	0.703065460672	0.70048	0.8346657589535204	0.83425	0.639488793446	0.57616	0.535619258881	0.43827	T	0.621635	0.88148	D	0.102665	0.64579	D	0.38409	0.91575	D	0.0368512561054357	0.03130	T	0.961204	0.85427	D	0.53969353	0.69379	0.50273013	0.71255	0.53969353	0.69380	0.50273013	0.71255	-8.775	0.66237	D	.	.	0.197	0.41947	B	.	.	4.071434	0.60497	24.2	0.99841355978358481	0.92143	0.98894	0.88280	D	AEFI	0.923609	0.90034	D	1.0511882824069	0.97117	15.61569	0.986079722276813	0.98339	18.01304	0.999999999121817	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	6.03	6.03	0.97798	7.784000	0.84325	.	.	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.869000	0.41347	0.0:1.0:0.0:0.0	20.557	0.99307	923	0.18507	EGF-like domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	959.98	34	chr2	140541066	.	C	T	959.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.90;DP=875;ExcessHet=0.0000;FS=0.861;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.15;ReadPosRankSum=-2.398e+00;SOR=0.890	GT:AD:DP:GQ:PL	0/1:42,37:79:99:974,0,1005	20	0	1	0
chr2	151379533	151379533	A	-	exonic	TNFAIP6	.	nonframeshift deletion	TNFAIP6:NM_007115:exon6:c.834delA:p.X278X,	.	.	840	267	190	178	47	593	0.505556	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.619	7392.52	39	chr2	151379531	.	TAA	TA,T,TAAA	7392.52	.	AC=24,2,2;AF=0.571,0.048,0.048;AN=42;BaseQRankSum=0.116;DP=709;ExcessHet=6.1794;FS=0.000;InbreedingCoeff=-0.2796;MLEAC=24,2,2;MLEAF=0.571,0.048,0.048;MQ=60.00;MQRankSum=0.00;QD=14.38;ReadPosRankSum=0.839;SOR=0.651	GT:AD:DP:GQ:PL	1/1:0,26,0,0:26:78:665,78,0,665,78,665,665,78,665,665	1	6	10	0
chr2	151379533	151379533	-	A	exonic	TNFAIP6	.	nonframeshift insertion	TNFAIP6:NM_007115:exon6:c.834dupA:p.X278delinsX,	.	.	840	267	190	178	47	593	0.505556	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.619	7392.52	39	chr2	151379531	.	TAA	TA,T,TAAA	7392.52	.	AC=24,2,2;AF=0.571,0.048,0.048;AN=42;BaseQRankSum=0.116;DP=709;ExcessHet=6.1794;FS=0.000;InbreedingCoeff=-0.2796;MLEAC=24,2,2;MLEAF=0.571,0.048,0.048;MQ=60.00;MQRankSum=0.00;QD=14.38;ReadPosRankSum=0.839;SOR=0.651	GT:AD:DP:GQ:PL	1/1:0,26,0,0:26:78:665,78,0,665,78,665,665,78,665,665	1	6	10	0
chr2	151680729	151680729	C	T	splicing	NEB	NM_001164507:exon30:c.3042+1G>A;NM_001271208:exon30:c.3042+1G>A;NM_004543:exon30:c.3042+1G>A;NM_001164508:exon30:c.3042+1G>A	.	.	Nemaline myopathy 2, autosomal recessive, Autosomal recessive	YES	.	.	.	.	.	.	.	1.0000	0.938	939850	Nemaline_myopathy_2	MONDO:MONDO:0009725,MedGen:C1850569,OMIM:256030	criteria_provided,_single_submitter	Likely_pathogenic	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.000	D	.	.	.	.	.	.	.	.	.	4.502	24.2	5.82	2.764	6.476	18.870	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	2.738e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.625005	0.99412	D	0.66	0.99401	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.;.;.;.;.	.;.;.;.;.;.;.	5.936609	0.94117	33	0.99349119721063961	0.60493	0.97623	0.75973	D	AEFBI	.	.	.	1.19148709426811	0.99469	22.96786	1.05788045534202	0.99467	22.95182	0.999998626380482	0.74766	0.061011	0.01085	0	0.063388	0.01293	0	0.063197	0.01477	0	0.058706	0.01089	0	0.989765	0.98485	5.82	5.82	0.92740	5.023000	0.63858	.	.	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.0:1.0:0.0:0.0	18.870	0.92282	863	0.32847	.;.;.;.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09524	547.01	131	chr2	151680729	.	C	T	547.01	.	AC=4;AF=0.095;AN=42;BaseQRankSum=-3.151e+00;DP=1823;ExcessHet=0.6776;FS=116.428;InbreedingCoeff=-0.1070;MLEAC=4;MLEAF=0.095;MQ=60.00;MQRankSum=0.00;QD=1.04;ReadPosRankSum=1.23;SOR=10.364	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:113,19:136:99:.:.:99,0,2291	17	0	4	0
chr2	160020260	160020260	T	C	exonic	PLA2R1	.	nonsynonymous SNV	PLA2R1:NM_001007267:exon8:c.A1298G:p.N433S	.	.	430	1073	19	0	0	19	0.00877598	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.78	T	0.957	D	0.615	P	0.000	N	0.937	D	1.025	L	2.28	T	-1.044	T	0.026	T	0.267	2.293	13.62	4.91	1.126	2.232	7.654	0.049	0.0039699325808	0.0016	0.00139776	0.0013	0.0017	0.0031	0	0	0.0014	0.0068	0.0003	0.0013066	202	154602	rs141323673	0.0011	0.0011	0.0010	0.0011	0.0329	0.0010	0.0010	0.0289	0.0274	0.0026	0.0027	0.0062	0	1.875e-05	0.0329	0.0007	0.0024	0.0006	0.0012	0.0012	0.0010	0.0013	0.0023	0.0010	0.0010	0.0017	0.0015	0.0014	0	0.0023	0.0037	0	0	0.0544	0.0007	0.0038	0.0002	0.151	0.24564	T	0.431	0.14116	T	0.957	0.54824	D	0.615	0.51231	P	0.000042	0.53742	N	0.177314	0.937147	0.37180	D	0.92	0.23413	L	2.28	0.17271	T	-0.88	0.24460	N	0.383	0.42443	-1.0438	0.16177	T	0.026	0.10954	T	10	0.0074219108	0.00169	T	0.00397	0.09400	T	0.049	0.13647	.	.	0.28058544554	0.27657	0.3786224465162629	0.37777	0.150394887801	0.16965	0.494250267744	0.38029	T	0.019161	0.15317	T	-0.514213	0.00475	T	-0.516023	0.20700	T	0.0327197364937325	0.02425	T	0.871113	0.57669	D	0.047966704	0.08284	0.052716732	0.08739	0.047966704	0.08284	0.052716732	0.08739	-0.968	0.01377	T	.	.	0.099	0.17995	B	.;.	.;.	2.477703	0.31942	18.89	0.99233393154765859	0.56310	0.81081	0.40562	D	AEFBI	0.261836	0.37970	N	0.0497038461697061	0.44127	2.692602	0.152123983024314	0.47254	2.958475	0.0170353526324379	0.12904	0.706548	0.73137	0	0.573888	0.26702	0	0.602189	0.34648	0	0.714379	0.83352	0	.	.	6.06	4.91	0.63897	2.561000	0.45567	3.467000	0.38554	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0707:0.1408:0.7886	7.654	0.27534	417	0.81662	C-type lectin-like|C-type lectin-like|C-type lectin-like;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1231.98	43	chr2	160020260	.	T	C	1231.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.860e-01;DP=796;ExcessHet=0.0000;FS=0.787;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.83;ReadPosRankSum=0.213;SOR=0.854	GT:AD:DP:GQ:PL	0/1:47,49:96:99:1246,0,1218	20	0	1	0
chr2	169201852	169201852	G	A	exonic	LRP2	.	nonsynonymous SNV	LRP2:NM_004525:exon44:c.C8228T:p.P2743L,	Donnai-Barrow syndrome, Autosomal recessive	.	2	1519	1	0	0	1	0.000329056	.	.	881474	Donnai-Barrow_syndrome|not_provided	MONDO:MONDO:0009104,MedGen:C1857277,OMIM:222448,Orphanet:2143|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.09	T	0.003	B	0.006	B	0.019	N	0.999	D	1.76	L	-3.85	D	0.113	D	0.750	D	0.065	2.046	12.80	1.95	0.083	2.851	8.217	0.323	.	.	0.00339457	0.0014	9.615e-05	8.643e-05	0.0001	0	2.999e-05	0	0.0099	0.0012225	189	154602	rs545645633	0.0006	0.0006	0.0004	0.0009	0.0100	0.0006	0.0006	0.0095	0.0092	5.974e-05	2.236e-05	0	7.557e-05	0	0.0003	2.248e-05	0.0005	0.0100	0.0005	0.0005	0.0003	0.0006	0.0131	0.0004	0.0003	0.0105	0.0095	0.0001	0	6.539e-05	0	0	0	0	0	0	0.0131	0.083	0.33091	T	0.064	0.44905	T	0.003	0.11197	B	0.006	0.12133	B	0.018882	0.27379	N	0.449536	0.858408	0.35344	D	2.26	0.64354	M	-3.85	0.95859	D	-5.98	0.89334	D	0.159	0.16586	0.113	0.84415	D	0.750	0.91486	D	10	0.010917753	0.00241	T	.	.	.	0.323	0.64522	.	.	0.574083903255	0.57075	0.4756915352177819	0.47488	0.250877097189	0.27665	0.289194911718	0.08805	T	0.47695	0.80739	T	-0.350169	0.04716	T	-0.267951	0.48026	T	0.0653901046279142	0.07989	T	0.572443	0.20452	T	0.08380171	0.19368	0.13184972	0.31652	0.084529296	0.19568	0.10511958	0.25261	-6.49	0.50209	T	0.17461396263331308	0.22185	0.120	0.24633	B	.;.	.;.	2.111327	0.26872	17.27	0.95173532346114809	0.26333	0.87162	0.46619	D	AEFBI	0.250857	0.37083	N	-0.538063326759282	0.20859	1.102802	-0.475515461331866	0.22830	1.241994	0.807528867865928	0.24296	0.554377	0.28877	0	0.59043	0.45803	0	0.602189	0.34648	0	0.530356	0.10902	0	.	.	5.7	1.95	0.25130	2.937000	0.48672	3.282000	0.37238	-0.119000	0.14319	0.998000	0.41325	0.444000	0.24919	0.849000	0.40138	0.1891:0.1129:0.6981:0.0	8.217	0.30676	898	0.25240	EGF-like 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	1	0	0	0	0	0	0	0.04762	2424.11	33	chr2	169201852	.	G	A	2424.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=3.46;DP=819;ExcessHet=0.1072;FS=1.326;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=14.69;ReadPosRankSum=2.24;SOR=0.844	GT:AD:DP:GQ:PL	0/1:42,54:96:99:1498,0,1041	19	0	2	0
chr2	169520925	169520926	TC	-	exonic	KLHL41	.	frameshift deletion	KLHL41:NM_006063:exon5:c.1627_1628del:p.L544Vfs*14,	Nemaline myopathy 9, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2316.94	35	chr2	169520924	.	ATC	A	2316.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.300e-01;DP=843;ExcessHet=0.0000;FS=8.131;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=18.54;ReadPosRankSum=0.331;SOR=0.745	GT:AD:DP:GQ:PL	0/1:64,61:125:99:2331,0,2403	20	0	1	0
chr2	171787879	171787879	C	T	exonic	SLC25A12	.	nonsynonymous SNV	SLC25A12:NM_003705:exon16:c.G1654A:p.A552T,	Epileptic encephalopathy, early infantile, 39, Autosomal recessive	.	0	1517	5	0	0	5	0.00164528	.	.	537369	Developmental_and_epileptic_encephalopathy,_39|SLC25A12-related_disorder|not_provided	MONDO:MONDO:0013056,MedGen:C2751855,OMIM:612949,Orphanet:353217|.|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.5	T	0.327	B	0.094	B	0.000	D	1.000	D	0.635	N	-1.13	T	-0.685	T	0.278	T	0.492	3.112	16.40	5.48	2.729	5.907	19.724	0.325	0.0318555262747	0.0004	0.000599042	0.0007	0.0002	0.0002	0	0.0002	0.0005	0	0.0028	0.0006015	93	154602	rs142912356	0.0006	0.0006	0.0005	0.0007	0.0039	0.0006	0.0006	0.0035	0.0034	2.987e-05	2.236e-05	0.0023	0	3.744e-05	0.0012	0.0004	0.0005	0.0039	0.0006	0.0006	0.0006	0.0005	0.0029	0.0005	0.0004	0.0018	0.0014	0.0001	0	0.0003	0.0037	0	9.416e-05	0.0034	0.0007	0.0009	0.0029	0.333	0.13003	T	0.394	0.15305	T	0.327	0.33167	B	0.094	0.30180	B	0.000000	0.84330	D	0.000000	0.999999	0.81001	D	0.415	0.12483	N	-1.13	0.77719	T	-0.9	0.24244	N	0.285	0.32259	-0.6847	0.61155	T	0.278	0.65017	T	10	0.011983365	0.00259	T	0.031856	0.53836	D	0.325	0.64725	.	.	0.625339872221	0.62229	0.7098314830250104	0.70925	0.87883234128	0.69681	0.887099981308	0.94894	D	0.193114	0.54848	T	-0.292638	0.09373	T	-0.196495	0.54978	T	0.0372505274160677	0.03200	T	0.979435	0.92911	D	0.13211493	0.30773	0.17223443	0.39463	0.13211493	0.30773	0.17223443	0.39463	-7.615	0.58415	D	0.14822123176283156	0.17239	0.102	0.18206	B	.	.	4.247249	0.64440	24.7	0.99428100312338363	0.64130	0.94155	0.60279	D	AEFDBHCI	0.737542	0.68270	D	-0.0106801311223276	0.41371	2.473384	0.169051194313836	0.48160	3.035751	0.999999999964269	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.719019	0.79029	0	0.635551	0.53088	0	.	.	5.48	5.48	0.80675	4.917000	0.63068	7.694000	0.65937	0.594000	0.32500	1.000000	0.71638	1.000000	0.68203	0.963000	0.52385	0.0:1.0:0.0:0.0	19.724	0.96148	570	0.70478	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1817.98	41	chr2	171787879	.	C	T	1817.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=4.37;DP=1000;ExcessHet=0.0000;FS=8.819;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.37;ReadPosRankSum=-8.480e-01;SOR=1.336	GT:AD:DP:GQ:PL	0/1:77,70:147:99:1832,0,1585	20	0	1	0
chr2	174337471	174337471	A	0	exonic	SP9	.	.	.	.	.	0	207	18	0	1	19	0.0416667	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	299.08	36	chr2	174337471	.	A	G,*	299.08	.	AC=1,1;AF=0.024,0.024;AN=42;BaseQRankSum=-7.930e-01;DP=814;ExcessHet=0.1072;FS=0.912;InbreedingCoeff=-0.0500;MLEAC=1,1;MLEAF=0.024,0.024;MQ=60.00;MQRankSum=0.00;QD=4.04;ReadPosRankSum=1.63;SOR=0.895	GT:AD:DP:GQ:PL	0/1:13,7,0:20:99:314,0,477,306,476,830	19	0	1	0
chr2	175180135	175180135	G	A	exonic	ATP5MC3	.	nonsynonymous SNV	ATP5MC3:NM_001002258:exon2:c.C83T:p.S28L	.	.	435	1085	2	0	0	2	0.00092081	.	.	3297493	Inborn_genetic_diseases	MeSH:D030342,MedGen:C0950123	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.27	T	0.065	B	0.01	B	0.000	D	1.000	D	2.565	M	1.85	T	-1.055	T	0.098	T	0.487	4.022	20.6	6.17	2.941	9.174	20.879	0.237	0.0193731072079	7.7e-05	0.000199681	0.0002	0	0	0	0	0.0003	0	0	0.0001294	20	154602	rs144490355	9.326e-05	9.44e-05	8.519e-05	0.0001	0.0001	8.036e-05	7.504e-05	0.0001	9.534e-05	0	2.492e-05	0	0	0	0	0.0001	1.673e-05	2.421e-05	0.0001	0.0001	0.0002	8.075e-05	0.0003	9.754e-05	8.267e-05	0.0002	0.0002	0	0	0.0002	0	0	0	0	0.0003	0	0	0.115	0.28520	T	0.281	0.21612	T	0.065	0.23521	B	0.01	0.14941	B	0.000030	0.55875	D	0.124955	1	0.81001	D	1.435	0.35949	L	1.85	0.24472	T	-1.78	0.42001	N	0.505	0.53708	-1.0554	0.12934	T	0.098	0.36754	T	10	0.15115172	0.28575	T	0.019373	0.41714	T	0.237	0.54074	.	.	0.291402777868	0.28757	0.5564840736747039	0.55575	0.452744770731	0.44987	0.593698143959	0.52015	T	0.338008	0.70732	T	-0.25905	0.13011	T	-0.319741	0.42604	T	0.223903633565351	0.21657	T	0.863614	0.55989	D	0.17989533	0.39083	0.15475468	0.36305	0.17989533	0.39082	0.15475468	0.36304	-3.572	0.17453	T	.	.	0.149	0.33846	B	.;.;.	.;.;.	4.893046	0.80347	27.3	0.99644316751003559	0.76881	0.99551	0.97351	D	AEFBCI	0.951204	0.96554	D	0.377118140568312	0.60184	4.204615	0.543796060278996	0.70965	5.583735	1.0	0.98316	0.736574	0.97449	0	0.662677	0.63036	0	0.732669	0.93749	0	0.735409	0.98432	0	.	.	6.17	6.17	0.99707	9.298000	0.95235	11.907000	0.99503	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:1.0:0.0	20.879	0.99870	653	0.62661	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	913.98	45	chr2	175180135	.	G	A	913.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.068e+00;DP=773;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.51;ReadPosRankSum=0.894;SOR=0.741	GT:AD:DP:GQ:PL	0/1:22,41:63:99:928,0,492	20	0	1	0
chr2	176093094	176093094	-	GCGGCA	exonic	HOXD13	.	nonframeshift insertion	HOXD13:NM_000523:exon1:c.204_205insGCGGCA:p.A71_S72insAA,	Brachydactyly, type D, Autosomal dominant;Brachydactyly, type E, Autosomal dominant;Syndactyly, type V, Autosomal dominant;Synpolydactyly 1, Autosomal dominant	.	8	704	635	169	6	979	0.408652	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0004	0	0	0.0008	0	0	0	0.0013	0.0001035	16	154602	rs775525473	0.0001	0.0001	0.0001	0.0002	0.0016	0.0001	0.0001	0.0009	0.0008	0.0002	7.082e-05	0	0.0001	0	0.0016	7.043e-05	0.0003	0.0011	6.616e-05	6.568e-05	5.173e-05	8.128e-05	0.0006	3.539e-05	2.633e-05	0.0002	8.996e-05	0	0	0	0	0	0	0	8.907e-05	0.0005	0.0006	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3095	14698.8	35	chr2	176093094	.	G	A,GGCGGCA	14698.8	.	AC=12,1;AF=0.286,0.024;AN=42;BaseQRankSum=0.290;DP=1345;ExcessHet=1.3217;FS=0.527;InbreedingCoeff=-0.0027;MLEAC=12,1;MLEAF=0.286,0.024;MQ=60.00;MQRankSum=0.00;QD=15.77;ReadPosRankSum=0.902;SOR=0.632	GT:AD:DP:GQ:PL	0/1:41,54,0:95:99:1330,0,838,1452,1000,2452	10	2	8	0
chr2	176189918	176189918	A	T	exonic	HOXD1	.	nonsynonymous SNV	HOXD1:NM_024501:exon2:c.A763T:p.T255S,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.14	T	0.983	D	0.921	D	0.000	D	1.000	D	0.375	N	-3.66	D	0.448	D	0.757	D	0.617	4.160	21.5	4.26	0.869	3.528	8.150	0.736	0.0884815162883	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.159	0.23813	T	0.212	0.26549	T	0.938	0.52538	P	0.921	0.65636	D	0.000144	0.49130	D	0.000000	1	0.81001	D	0.135	0.08676	N	-3.66	0.95212	D	-3.18	0.64478	D	0.308	0.34767	0.448	0.89799	D	0.757	0.91735	D	10	0.57259506	0.65402	D	0.088482	0.75141	D	0.736	0.90808	0.515	0.61459	0.960626690416	0.96021	0.676609743728485	0.67599	.	.	0.780120611191	0.78946	T	0.746474	0.93019	D	0.189249	0.72894	D	0.034066	0.72542	D	0.96618926525116	0.67503	D	0.659534	0.26859	T	0.20756184	0.42965	0.18542121	0.41655	0.20756184	0.42965	0.18542121	0.41654	-6.908	0.53358	T	.	.	0.467	0.63028	A	.	.	4.222614	0.63876	24.6	0.98951323167211169	0.49150	0.88991	0.49196	D	AEFDBCIJ	0.410575	0.48139	N	0.28218980741981	0.55244	3.688723	0.318460575462181	0.56623	3.826055	0.99999855861839	0.74766	0.72623	0.87236	0	0.563428	0.19063	0	0.596491	0.31596	0	0.603991	0.37454	0	.	.	5.45	4.26	0.49832	2.453000	0.44627	9.362000	0.80382	0.756000	0.94297	0.995000	0.38783	1.000000	0.68203	0.997000	0.79791	0.7279:0.139:0.0:0.1331	8.150	0.30295	529	0.73716	Homeobox domain|Homeobox domain, metazoa|Homeobox domain|Homeobox domain|Homeobox domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1547.98	33	chr2	176189918	.	A	T	1547.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.150e-01;DP=829;ExcessHet=0.0000;FS=1.560;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.12;ReadPosRankSum=0.202;SOR=0.879	GT:AD:DP:GQ:PL	0/1:60,58:118:99:1562,0,1551	20	0	1	0
chr2	178503801	178503801	G	A	exonic	PLEKHA3	.	nonsynonymous SNV	PLEKHA3:NM_019091:exon8:c.G817A:p.A273T,	.	.	429	1079	14	0	0	14	0.00644567	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.58	T	0.0	B	0.001	B	0.042	N	0.902	N	-0.345	N	2.63	T	-0.965	T	0.011	T	0.06	0.997	9.070	0.758	0.058	1.115	3.869	0.115	.	0.0008	0.00399361	0.0033	0.0002	0.0009	0.0001	0	0.0011	0.0011	0.0192	0.0027878	431	154602	rs145044786	0.0016	0.0016	0.0011	0.0022	0.0181	0.0016	0.0015	0.0173	0.0170	0.0002	0.0006	0.0015	0.0001	0	0.0033	0.0005	0.0025	0.0181	0.0015	0.0015	0.0013	0.0016	0.0222	0.0013	0.0012	0.0188	0.0175	0.0002	0	0.0016	0.0012	0	0	0	0.0011	0.0014	0.0222	0.26	0.16574	T	0.707	0.05582	T	0.0	0.02946	B	0.001	0.04355	B	0.042380	0.23849	N	0.464010	0.90154	0.27690	N	0.55	0.14455	N	2.63	0.12884	T	-0.24	0.10833	N	0.024	0.00445	-0.9654	0.38132	T	0.011	0.04321	T	10	0.0019107759	0.00026	T	.	.	.	0.115	0.32236	.	.	0.248417906384	0.24464	0.13601584638444106	0.13525	0.387255995529	0.40007	0.339420676231	0.16351	T	0.022339	0.17240	T	-0.678852	0.00049	T	-0.733621	0.04166	T	0.0108611034300655	0.00155	T	0.751525	0.37371	T	0.03181383	0.03091	0.047337435	0.06798	0.03181383	0.03090	0.047337435	0.06797	-3.032	0.10530	T	.	.	0.071	0.03773	B	.	.	1.641845	0.20951	14.98	0.7718937070749986	0.11773	0.85205	0.44317	D	AEFGBI	0.105423	0.21064	N	-0.612414703231113	0.18570	0.9651844	-0.408913275132726	0.24735	1.356198	0.892687780450018	0.25889	0.706548	0.73137	0	0.653731	0.59785	0	0.670488	0.60580	0	0.714379	0.83352	0	.	.	5.85	0.758	0.17579	1.173000	0.31529	.	.	0.676000	0.76740	1.000000	0.71638	0.996000	0.32793	0.999000	0.91618	0.2912:0.0:0.4495:0.2593	3.869	0.08533	322	0.86904	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	2575.06	33	chr2	178503801	.	G	A	2575.06	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.90;DP=909;ExcessHet=0.0000;FS=2.889;InbreedingCoeff=-0.0294;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.10;ReadPosRankSum=2.27;SOR=0.783	GT:AD:DP:GQ:PL	0/1:121,111:232:99:2589,0,2683	20	0	1	0
chr2	178534020	178534020	T	C	exonic	TTN	.	nonsynonymous SNV	TTN:NM_003319:exon186:c.A75400G:p.I25134V	Cardiomyopathy, dilated, 1G;Cardiomyopathy, familial hypertrophic, 9;Muscular dystrophy, limb-girdle, type 2J, Autosomal recessive;Myopathy, early-onset, with fatal cardiomyopathy, Autosomal recessive;Myopathy, proximal, with early respiratory muscle involvement;Tibial muscular dystrophy, tardive, Autosomal dominant	.	1	1496	25	0	0	25	0.00828638	.	.	56816	Dilated_cardiomyopathy_1G|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J|not_provided|Myopathy,_myofibrillar,_9,_with_early_respiratory_failure|Primary_dilated_cardiomyopathy|not_specified|Cardiovascular_phenotype|Early-onset_myopathy_with_fatal_cardiomyopathy|Tibial_muscular_dystrophy	MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145,Orphanet:154|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807,Orphanet:140922|MedGen:C3661900|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689,Orphanet:178464,Orphanet:34521|EFO:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,Human_Phenotype_Ontology:HP:0001725,Human_Phenotype_Ontology:HP:0005159,Human_Phenotype_Ontology:HP:0200130,MONDO:MONDO:0005021,MeSH:D002311,MedGen:C0007193,Orphanet:217604|MedGen:CN169374|MedGen:CN230736|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705,Orphanet:289377|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334,Orphanet:609	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0	D	0.437	B	0.235	B	.	.	1.000	D	0.05	N	-0.06	T	-0.792	T	0.135	T	0.301	1.222	9.957	5.59	2.130	5.029	11.421	0.126	.	0.0015	0.00599042	0.0043	0.0002	0.0011	0	0	0.0017	0.0011	0.0233	0.0036481	564	154602	rs56347248	0.0022	0.0022	0.0016	0.0028	0.0211	0.0021	0.0021	0.0203	0.0200	0.0003	0.0007	0.0008	5.038e-05	7.493e-05	0.0043	0.0010	0.0027	0.0211	0.0017	0.0018	0.0015	0.0020	0.0238	0.0016	0.0015	0.0203	0.0190	0.0002	0	0.0016	0.0009	0	0	0	0.0016	0.0014	0.0238	0.52	0.07259	T	.	.	.	0.437	0.35811	B	0.235	0.38432	B	.	.	.	.	0.976515	0.39283	D	-0.115	0.04602	N	-0.06	0.63568	T	-0.59	0.17834	N	0.044	0.20793	-0.7920	0.55612	T	0.135	0.44933	T	9	0.003139168	0.00052	T	.	.	.	0.126	0.34673	.	.	0.494906320408	0.49125	.	.	0.126400502665	0.14248	0.424147129059	0.28407	T	.	.	.	-0.430651	0.01469	T	-0.374457	0.36368	T	0.0279211896563883	0.01677	T	0.818018	0.47860	T	.	.	.	.	.	.	.	.	-3.49	0.16292	T	.	.	0.131	0.28174	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	2.161078	0.27534	17.49	0.8587454016514926	0.16167	0.93700	0.58941	D	AEFBI	.	.	.	0.0801936018471561	0.45539	2.808774	0.257360012518291	0.53068	3.477797	0.999984022272872	0.51787	0.562547	0.31514	0	0.653731	0.59785	0	0.602189	0.34648	0	0.491896	0.07777	0	.	.	5.59	5.59	0.84677	5.019000	0.63828	.	.	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.1352:0.0:0.0:0.8648	11.421	0.49223	369	0.84396	.;.;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;.;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin I-set|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	1	0	0	0	0	1	0	0.02381	2798.98	114	chr2	178534020	.	T	C	2798.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.398e+00;DP=2215;ExcessHet=0.0000;FS=0.932;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.37;ReadPosRankSum=-1.485e+00;SOR=0.676	GT:AD:DP:GQ:PL	0/1:148,122:270:99:2813,0,3765	20	0	1	0
chr2	178534724	178534724	C	T	exonic	TTN	.	nonsynonymous SNV	TTN:NM_003319:exon186:c.G74696A:p.R24899H	Cardiomyopathy, dilated, 1G;Cardiomyopathy, familial hypertrophic, 9;Muscular dystrophy, limb-girdle, type 2J, Autosomal recessive;Myopathy, early-onset, with fatal cardiomyopathy, Autosomal recessive;Myopathy, proximal, with early respiratory muscle involvement;Tibial muscular dystrophy, tardive, Autosomal dominant	.	1	1494	27	0	0	27	0.00895522	.	.	56807	not_provided|not_specified|Myopathy,_myofibrillar,_9,_with_early_respiratory_failure|Dilated_cardiomyopathy_1G|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J|Early-onset_myopathy_with_fatal_cardiomyopathy|Cardiovascular_phenotype|Tibial_muscular_dystrophy|Cardiomyopathy|Primary_dilated_cardiomyopathy	MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689,Orphanet:178464,Orphanet:34521|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145,Orphanet:154|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807,Orphanet:140922|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705,Orphanet:289377|MedGen:CN230736|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334,Orphanet:609|Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848|EFO:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,Human_Phenotype_Ontology:HP:0001725,Human_Phenotype_Ontology:HP:0005159,Human_Phenotype_Ontology:HP:0200130,MONDO:MONDO:0005021,MeSH:D002311,MedGen:C0007193,Orphanet:217604	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0	D	0.105	B	0.019	B	.	.	1.000	D	1.815	L	0.72	T	-0.916	T	0.142	T	0.399	3.231	16.83	5.14	1.558	4.984	15.569	0.089	.	0.0014	0.00599042	0.0044	0.0002	0.0011	0	0	0.0018	0.0022	0.0238	0.0037516	580	154602	rs55669553	0.0022	0.0022	0.0016	0.0029	0.0214	0.0022	0.0022	0.0206	0.0203	0.0004	0.0007	0.0008	7.558e-05	7.493e-05	0.0049	0.0010	0.0027	0.0214	0.0018	0.0018	0.0015	0.0021	0.0244	0.0016	0.0015	0.0209	0.0195	0.0002	0	0.0017	0.0009	0	0	0	0.0017	0.0014	0.0244	0.0	0.91255	D	.	.	.	0.105	0.25993	B	0.019	0.18783	B	.	.	.	.	0.999996	0.58761	D	2.965	0.85198	M	0.72	0.50976	T	-3.49	0.69714	D	0.24	0.37509	-0.9165	0.46024	T	0.142	0.46257	T	9	0.0036860704	0.00068	T	.	.	.	0.089	0.25827	.	.	0.202086224978	0.19791	.	.	0.109101829379	0.12303	0.489401757717	0.37355	T	.	.	.	-0.369326	0.03628	T	-0.286368	0.46149	T	0.110552963806189	0.13480	T	0.870213	0.57716	D	.	.	.	.	.	.	.	.	-5.952	0.45876	T	.	.	0.507	0.64884	A	.;.;.;.;.;.;.	.;.;.;.;.;.;.	2.452042	0.31577	18.78	0.92742931441369314	0.22247	0.97406	0.74547	D	AEFBI	.	.	.	0.114307564429706	0.47130	2.943047	0.267253383658903	0.53636	3.531681	0.999999999763111	0.74766	0.554377	0.28877	0	0.546412	0.12157	0	0.602189	0.34648	0	0.727631	0.95156	0	.	.	6.02	5.14	0.70008	5.062000	0.64156	.	.	-0.173000	0.11020	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.9341:0.0:0.0659	15.569	0.76062	373	0.84140	.;.;Protein kinase domain|Protein kinase domain;Protein kinase domain|Protein kinase domain;.;Protein kinase domain|Protein kinase domain;Protein kinase domain|Protein kinase domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.02381	2335.98	114	chr2	178534724	.	C	T	2335.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.88;DP=2048;ExcessHet=0.0000;FS=0.580;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.24;ReadPosRankSum=-4.140e-01;SOR=0.794	GT:AD:DP:GQ:PL	0/1:82,82:164:99:2350,0,2129	20	0	1	0
chr2	178545939	178545939	G	A	exonic	TTN	.	nonsynonymous SNV	TTN:NM_003319:exon171:c.C68102T:p.S22701F	Cardiomyopathy, dilated, 1G;Cardiomyopathy, familial hypertrophic, 9;Muscular dystrophy, limb-girdle, type 2J, Autosomal recessive;Myopathy, early-onset, with fatal cardiomyopathy, Autosomal recessive;Myopathy, proximal, with early respiratory muscle involvement;Tibial muscular dystrophy, tardive, Autosomal dominant	YES	0	1496	26	0	0	26	0.00861498	.	.	56719	Tibial_muscular_dystrophy|Primary_dilated_cardiomyopathy|Early-onset_myopathy_with_fatal_cardiomyopathy|Dilated_cardiomyopathy_1G|not_specified|Myopathy,_myofibrillar,_9,_with_early_respiratory_failure|Cardiovascular_phenotype|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J|Cardiomyopathy|not_provided	MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334,Orphanet:609|EFO:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,Human_Phenotype_Ontology:HP:0001725,Human_Phenotype_Ontology:HP:0005159,Human_Phenotype_Ontology:HP:0200130,MONDO:MONDO:0005021,MeSH:D002311,MedGen:C0007193,Orphanet:217604|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705,Orphanet:289377|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145,Orphanet:154|MedGen:CN169374|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689,Orphanet:178464,Orphanet:34521|MedGen:CN230736|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807,Orphanet:140922|Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0	D	1.0	D	0.999	D	.	.	1.000	D	2.49	M	0.2	T	-0.126	T	0.442	T	0.545	3.668	18.64	5.82	2.756	7.923	20.109	0.466	.	0.0015	0.00599042	0.0043	0.0002	0.0011	0.0002	0	0.0017	0.0011	0.0233	0.003661	566	154602	rs191484894	0.0022	0.0022	0.0016	0.0028	0.0210	0.0021	0.0021	0.0202	0.0199	0.0004	0.0007	0.0008	0.0002	7.49e-05	0.0043	0.0010	0.0030	0.0210	0.0018	0.0018	0.0015	0.0021	0.0238	0.0016	0.0015	0.0203	0.0190	0.0002	0	0.0018	0.0009	0	0	0	0.0017	0.0019	0.0238	0.004	0.65419	D	.	.	.	1.0	0.90584	D	0.999	0.92359	D	.	.	.	.	0.999999	0.58761	D	1.585	0.39878	L	0.2	0.60111	T	-4.0	0.80767	D	0.606	0.84817	-0.1261	0.79492	T	0.442	0.77965	T	9	0.011009574	0.00242	T	.	.	.	0.466	0.76156	.	.	0.724109648524	0.72167	.	.	0.484728417222	0.47373	0.585230708122	0.50822	T	.	.	.	-0.30576	0.08128	T	-0.19506	0.55114	T	0.0716982437541968	0.08888	T	0.914409	0.69449	D	.	.	.	.	.	.	.	.	-8.326	0.63271	D	.	.	0.346	0.56324	A	.;.;.;.;.;.;.	.;.;.;.;.;.;.	3.304615	0.45380	22.1	0.97250835364099031	0.33043	0.98589	0.84429	D	AEFBI	0.886007	0.81703	D	0.843193967595034	0.88718	9.684574	0.802168168336609	0.89944	10.18802	0.99999999999998	0.74766	0.475973	0.10046	0	0.379588	0.06130	0	0.670488	0.60580	0	0.491896	0.07777	0	.	.	5.82	5.82	0.92740	8.055000	0.89243	.	.	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.828000	0.39026	0.0:0.0:1.0:0.0	20.109	0.97902	476	0.77720	.;.;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;Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2149.98	35	chr2	178545939	.	G	A	2149.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.32;DP=931;ExcessHet=0.0000;FS=1.072;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.86;ReadPosRankSum=0.043;SOR=0.777	GT:AD:DP:GQ:PL	0/1:135,83:218:99:2164,0,3789	20	0	1	0
chr2	178550073	178550073	C	T	exonic	TTN	.	nonsynonymous SNV	TTN:NM_003319:exon165:c.G64570A:p.A21524T	Cardiomyopathy, dilated, 1G;Cardiomyopathy, familial hypertrophic, 9;Muscular dystrophy, limb-girdle, type 2J, Autosomal recessive;Myopathy, early-onset, with fatal cardiomyopathy, Autosomal recessive;Myopathy, proximal, with early respiratory muscle involvement;Tibial muscular dystrophy, tardive, Autosomal dominant	.	1	1495	26	0	0	26	0.00862069	.	.	56678	Dilated_cardiomyopathy_1G|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J|Early-onset_myopathy_with_fatal_cardiomyopathy|not_provided|Cardiomyopathy|not_specified|Cardiovascular_phenotype|Tibial_muscular_dystrophy|Myopathy,_myofibrillar,_9,_with_early_respiratory_failure|Primary_dilated_cardiomyopathy	MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145,Orphanet:154|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807,Orphanet:140922|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705,Orphanet:289377|MedGen:C3661900|Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848|MedGen:CN169374|MedGen:CN230736|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334,Orphanet:609|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689,Orphanet:178464,Orphanet:34521|EFO:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,Human_Phenotype_Ontology:HP:0001725,Human_Phenotype_Ontology:HP:0005159,Human_Phenotype_Ontology:HP:0200130,MONDO:MONDO:0005021,MeSH:D002311,MedGen:C0007193,Orphanet:217604	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0	D	1.0	D	0.999	D	.	.	1.000	D	1.495	L	-0.5	T	-0.069	T	0.488	T	0.42	4.903	28.2	5.74	2.873	4.869	20.298	0.416	.	0.0015	0.00599042	0.0043	0.0002	0.0011	0.0002	0	0.0017	0.0011	0.0233	0.0036675	567	154602	rs148617456	0.0022	0.0022	0.0016	0.0028	0.0210	0.0021	0.0021	0.0202	0.0199	0.0004	0.0007	0.0008	0.0002	7.491e-05	0.0043	0.0010	0.0030	0.0210	0.0018	0.0018	0.0015	0.0021	0.0241	0.0016	0.0015	0.0205	0.0192	0.0002	0	0.0018	0.0009	0	0	0	0.0016	0.0019	0.0241	0.041	0.41915	D	.	.	.	1.0	0.90584	D	0.999	0.92359	D	.	.	.	.	1	0.81001	D	1.15	0.29295	L	-0.5	0.70480	T	-2.78	0.66085	D	0.487	0.67650	-0.0690	0.80802	T	0.488	0.80515	T	9	0.0062122345	0.00140	T	.	.	.	0.416	0.72631	.	.	0.52628473709	0.52276	.	.	0.457598942377	0.45392	0.550748407841	0.45962	T	.	.	.	-0.333518	0.05850	T	-0.234932	0.51292	T	0.046113912415414	0.04804	T	0.887511	0.61533	D	.	.	.	.	.	.	.	.	-5.9	0.45435	T	.	.	0.140	0.30713	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	3.063934	0.41155	21.3	0.98470008578502022	0.41849	0.97160	0.73043	D	AEFBI	0.707248	0.66204	D	0.716954307711086	0.80744	7.362555	0.730721168650621	0.84709	8.368916	1.0	0.98316	0.554377	0.28877	0	0.624146	0.53433	0	0.602189	0.34648	0	0.567892	0.33627	0	.	.	5.74	5.74	0.90070	4.921000	0.63096	.	.	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:1.0:0.0:0.0	20.298	0.98571	531	0.73574	.;.;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;.;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin I-set|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	1	0	0	0	0	1	0	0.02381	2272.98	42	chr2	178550073	.	C	T	2272.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.614e+00;DP=1179;ExcessHet=0.0000;FS=4.043;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.54;ReadPosRankSum=-9.070e-01;SOR=0.564	GT:AD:DP:GQ:PL	0/1:107,90:197:99:2287,0,3028	20	0	1	0
chr2	178552074	178552074	A	C	exonic	TTN	.	nonsynonymous SNV	TTN:NM_003319:exon163:c.T63631G:p.C21211G	Cardiomyopathy, dilated, 1G;Cardiomyopathy, familial hypertrophic, 9;Muscular dystrophy, limb-girdle, type 2J, Autosomal recessive;Myopathy, early-onset, with fatal cardiomyopathy, Autosomal recessive;Myopathy, proximal, with early respiratory muscle involvement;Tibial muscular dystrophy, tardive, Autosomal dominant	YES	1	1495	24	2	0	28	0.00927767	.	.	56665	Primary_dilated_cardiomyopathy|Cardiomyopathy|Early-onset_myopathy_with_fatal_cardiomyopathy|not_provided|Myopathy,_myofibrillar,_9,_with_early_respiratory_failure|Tibial_muscular_dystrophy|Dilated_cardiomyopathy_1G|Cardiovascular_phenotype|TTN-related_myopathy|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J|not_specified	EFO:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,Human_Phenotype_Ontology:HP:0001725,Human_Phenotype_Ontology:HP:0005159,Human_Phenotype_Ontology:HP:0200130,MONDO:MONDO:0005021,MeSH:D002311,MedGen:C0007193,Orphanet:217604|Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705,Orphanet:289377|MedGen:C3661900|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689,Orphanet:178464,Orphanet:34521|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334,Orphanet:609|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145,Orphanet:154|MedGen:CN230736|MONDO:MONDO:0100175,MedGen:CN294812|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807,Orphanet:140922|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0	D	1.0	D	0.998	D	.	.	1.000	D	0.86	L	0.46	T	-0.580	T	0.248	T	0.664	3.210	16.75	5.76	2.195	9.339	16.075	0.478	.	0.0014	0.00599042	0.0041	0.0002	0.0011	0	0	0.0017	0.0011	0.0226	0.0035705	552	154602	rs150430592	0.0021	0.0021	0.0016	0.0027	0.0203	0.0021	0.0021	0.0195	0.0192	0.0003	0.0007	0.0008	5.04e-05	7.493e-05	0.0042	0.0010	0.0027	0.0203	0.0017	0.0017	0.0015	0.0020	0.0234	0.0016	0.0015	0.0199	0.0186	0.0002	0	0.0017	0.0009	0	0	0	0.0017	0.0014	0.0234	0.023	0.49613	D	.	.	.	1.0	0.90584	D	0.998	0.88582	D	.	.	.	.	1	0.81001	D	0.315	0.10303	N	0.46	0.56281	T	-7.8	0.95924	D	0.536	0.89020	-0.5797	0.65629	T	0.248	0.61693	T	9	0.008630365	0.00196	T	.	.	.	0.478	0.76946	.	.	0.805810659861	0.80399	.	.	0.515532960109	0.49461	0.735550642014	0.72319	T	.	.	.	-0.259447	0.12965	T	-0.129197	0.61040	T	0.153546478578844	0.17382	T	0.89721	0.67223	D	.	.	.	.	.	.	.	.	-1.482	0.01728	T	.	.	0.482	0.63750	A	.;.;.;.;.;.;.	.;.;.;.;.;.;.	2.871585	0.37970	20.6	0.94809500877476183	0.25568	0.99059	0.90625	D	AEFBI	0.964256	0.98634	D	0.719182480464528	0.80888	7.395654	0.757896083038793	0.86746	8.988923	0.999999995369245	0.74766	0.554377	0.28877	0	0.546412	0.12157	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	5.76	5.76	0.90726	9.325000	0.96006	.	.	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.987000	0.62547	1.0:0.0:0.0:0.0	16.075	0.80770	538	0.73119	.;.;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;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	1	0	0	0	0	1	0	0.02381	2842.98	45	chr2	178552074	.	A	C	2842.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.350e-01;DP=989;ExcessHet=0.0000;FS=6.810;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.15;ReadPosRankSum=0.304;SOR=0.709	GT:AD:DP:GQ:PL	0/1:145,110:255:99:2857,0,3876	20	0	1	0
chr2	178552364	178552364	C	T	exonic	TTN	.	nonsynonymous SNV	TTN:NM_003319:exon163:c.G63341A:p.R21114H	Cardiomyopathy, dilated, 1G;Cardiomyopathy, familial hypertrophic, 9;Muscular dystrophy, limb-girdle, type 2J, Autosomal recessive;Myopathy, early-onset, with fatal cardiomyopathy, Autosomal recessive;Myopathy, proximal, with early respiratory muscle involvement;Tibial muscular dystrophy, tardive, Autosomal dominant	.	0	1496	26	0	0	26	0.00861498	.	.	56661	Myopathy,_myofibrillar,_9,_with_early_respiratory_failure|Cardiomyopathy|not_provided|Tibial_muscular_dystrophy|not_specified|Dilated_cardiomyopathy_1G|Cardiovascular_phenotype|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J|Early-onset_myopathy_with_fatal_cardiomyopathy|Primary_dilated_cardiomyopathy	MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689,Orphanet:178464,Orphanet:34521|Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848|MedGen:C3661900|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334,Orphanet:609|MedGen:CN169374|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145,Orphanet:154|MedGen:CN230736|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807,Orphanet:140922|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705,Orphanet:289377|EFO:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,Human_Phenotype_Ontology:HP:0001725,Human_Phenotype_Ontology:HP:0005159,Human_Phenotype_Ontology:HP:0200130,MONDO:MONDO:0005021,MeSH:D002311,MedGen:C0007193,Orphanet:217604	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0	D	1.0	D	0.999	D	.	.	1.000	D	1.38	L	-0.33	T	-0.204	T	0.431	T	0.366	3.370	17.36	5.76	2.882	6.086	20.324	0.403	.	0.0015	0.0061901	0.0041	0.0002	0.0011	0.0004	0	0.0018	0.0012	0.0265	0.0036481	564	154602	rs149567378	0.0022	0.0023	0.0016	0.0028	0.0210	0.0021	0.0021	0.0202	0.0199	0.0004	0.0008	0.0008	0.0002	5.702e-05	0.0044	0.0011	0.0030	0.0210	0.0019	0.0019	0.0016	0.0021	0.0243	0.0017	0.0016	0.0207	0.0194	0.0002	0	0.0018	0.0009	0.0002	0	0	0.0017	0.0019	0.0243	0.011	0.55530	D	.	.	.	1.0	0.90584	D	0.999	0.92359	D	.	.	.	.	1	0.81001	D	1.565	0.39561	L	-0.33	0.68329	T	-3.4	0.71397	D	0.405	0.67995	-0.2039	0.77569	T	0.431	0.77284	T	9	0.006216377	0.00140	T	.	.	.	0.403	0.71636	.	.	0.366277470483	0.36239	.	.	0.515550123524	0.49465	0.626902043819	0.56706	T	.	.	.	-0.330574	0.06068	T	-0.230704	0.51704	T	0.0440367366895231	0.04426	T	0.949405	0.82942	D	.	.	.	.	.	.	.	.	-3.913	0.22497	T	.	.	0.107	0.20038	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	2.866965	0.37901	20.6	0.92786797022447076	0.22304	0.97433	0.74719	D	AEFBI	0.830258	0.74901	D	0.710948418442647	0.80351	7.274923	0.713889188448926	0.83433	8.02034	0.999999999999992	0.74766	0.554377	0.28877	0	0.446627	0.06534	0	0.547309	0.15389	0	0.567892	0.33627	0	.	.	5.76	5.76	0.90726	6.170000	0.71810	.	.	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.943000	0.48514	0.0:1.0:0.0:0.0	20.324	0.98691	535	0.73288	.;.;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;.;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin I-set|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	1	0	0	0	0	1	0	0.02381	2264.98	45	chr2	178552364	.	C	T	2264.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.07;DP=918;ExcessHet=0.0000;FS=2.579;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.58;ReadPosRankSum=-3.330e-01;SOR=0.897	GT:AD:DP:GQ:PL	0/1:96,84:180:99:2279,0,2465	20	0	1	0
chr2	178563572	178563572	G	T	exonic	TTN	.	nonsynonymous SNV	TTN:NM_003319:exon154:c.C55365A:p.N18455K	Cardiomyopathy, dilated, 1G;Cardiomyopathy, familial hypertrophic, 9;Muscular dystrophy, limb-girdle, type 2J, Autosomal recessive;Myopathy, early-onset, with fatal cardiomyopathy, Autosomal recessive;Myopathy, proximal, with early respiratory muscle involvement;Tibial muscular dystrophy, tardive, Autosomal dominant	.	0	1497	25	0	0	25	0.00828089	.	.	56579	Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J|not_provided|Myopathy,_myofibrillar,_9,_with_early_respiratory_failure|not_specified|Dilated_cardiomyopathy_1G|Cardiovascular_phenotype|Early-onset_myopathy_with_fatal_cardiomyopathy|Tibial_muscular_dystrophy|Cardiomyopathy|Primary_dilated_cardiomyopathy	MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807,Orphanet:140922|MedGen:C3661900|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689,Orphanet:178464,Orphanet:34521|MedGen:CN169374|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145,Orphanet:154|MedGen:CN230736|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705,Orphanet:289377|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334,Orphanet:609|Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848|EFO:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,Human_Phenotype_Ontology:HP:0001725,Human_Phenotype_Ontology:HP:0005159,Human_Phenotype_Ontology:HP:0200130,MONDO:MONDO:0005021,MeSH:D002311,MedGen:C0007193,Orphanet:217604	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0	D	1.0	D	0.998	D	.	.	1.000	D	2.735	M	0.35	T	-0.467	T	0.323	T	0.194	1.156	9.708	2.79	0.863	3.273	7.167	0.417	.	0.0014	0.00579073	0.0042	0.0002	0.0011	0	0	0.0017	0.0011	0.0225	0.003564	551	154602	rs56264840	0.0022	0.0022	0.0016	0.0027	0.0202	0.0021	0.0021	0.0194	0.0191	0.0003	0.0007	0.0008	5.04e-05	7.49e-05	0.0043	0.0010	0.0027	0.0202	0.0017	0.0017	0.0015	0.0020	0.0232	0.0016	0.0015	0.0197	0.0184	0.0002	0	0.0017	0.0009	0	0	0	0.0017	0.0014	0.0232	0.003	0.68238	D	.	.	.	1.0	0.90584	D	0.998	0.88582	D	.	.	.	.	0.999825	0.50225	D	2.485	0.72352	M	0.35	0.58029	T	-4.57	0.79659	D	0.379	0.60495	-0.4672	0.69823	T	0.323	0.69212	T	9	0.0070592165	0.00160	T	.	.	.	0.417	0.72705	0.578	0.70347	0.250039746154	0.24611	.	.	0.496214373149	0.48140	0.663874268532	0.61963	T	.	.	.	-0.435452	0.01376	T	-0.382017	0.35485	T	0.133976625754777	0.15744	T	0.934307	0.75413	D	.	.	.	.	.	.	.	.	-10.339	0.75916	D	.	.	0.865	0.80585	P	.;.;.;.;.;.;.	.;.;.;.;.;.;.	1.816132	0.23080	15.88	0.9232112540969486	0.21715	0.94092	0.60088	D	AEFBI	0.724372	0.67370	D	0.448065803602407	0.64093	4.656293	0.379467926255422	0.60300	4.216094	0.00891551601152706	0.11764	0.553676	0.25195	0	0.546412	0.12157	0	0.547309	0.15389	0	0.620846	0.47308	0	.	.	5.97	2.79	0.31792	3.299000	0.51533	.	.	-0.113000	0.14837	1.000000	0.71638	1.000000	0.68203	0.983000	0.59808	0.4327:0.0:0.5673:0.0	7.167	0.24872	443	0.79878	.;.;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;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	1	0	0	0	0	1	0	0.02381	2356.98	103	chr2	178563572	.	G	T	2356.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.676;DP=1852;ExcessHet=0.0000;FS=1.820;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.95;ReadPosRankSum=-9.460e-01;SOR=0.843	GT:AD:DP:GQ:PL	0/1:94,88:182:99:2371,0,2564	20	0	1	0
chr2	178584852	178584852	C	T	exonic	TTN	.	nonsynonymous SNV	TTN:NM_003319:exon138:c.G37594A:p.V12532M	Cardiomyopathy, dilated, 1G;Cardiomyopathy, familial hypertrophic, 9;Muscular dystrophy, limb-girdle, type 2J, Autosomal recessive;Myopathy, early-onset, with fatal cardiomyopathy, Autosomal recessive;Myopathy, proximal, with early respiratory muscle involvement;Tibial muscular dystrophy, tardive, Autosomal dominant	.	1	1495	26	0	0	26	0.00862069	.	.	56378	not_specified|Dilated_cardiomyopathy_1G|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J|Cardiovascular_phenotype|Cardiomyopathy|Early-onset_myopathy_with_fatal_cardiomyopathy|Tibial_muscular_dystrophy|Myopathy,_myofibrillar,_9,_with_early_respiratory_failure|not_provided|Primary_dilated_cardiomyopathy	MedGen:CN169374|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145,Orphanet:154|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807,Orphanet:140922|MedGen:CN230736|Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705,Orphanet:289377|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334,Orphanet:609|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689,Orphanet:178464,Orphanet:34521|MedGen:C3661900|EFO:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,Human_Phenotype_Ontology:HP:0001725,Human_Phenotype_Ontology:HP:0005159,Human_Phenotype_Ontology:HP:0200130,MONDO:MONDO:0005021,MeSH:D002311,MedGen:C0007193,Orphanet:217604	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0	D	0.999	D	0.989	D	.	.	1.000	D	3.61	H	-0.35	T	0.409	D	0.629	D	0.344	3.777	19.18	6.03	2.861	3.315	20.557	0.518	.	0.0015	0.00599042	0.0043	0.0002	0.0011	0.0002	0	0.0017	0.0011	0.0232	0.003661	566	154602	rs150661999	0.0022	0.0022	0.0016	0.0028	0.0210	0.0022	0.0021	0.0202	0.0199	0.0004	0.0007	0.0008	0.0002	7.492e-05	0.0043	0.0010	0.0030	0.0210	0.0018	0.0018	0.0016	0.0020	0.0240	0.0016	0.0015	0.0205	0.0191	0.0002	0	0.0018	0.0009	0.0002	0	0	0.0016	0.0014	0.0240	0.002	0.72154	D	.	.	.	0.999	0.77913	D	0.989	0.78396	D	.	.	.	.	0.999999	0.81001	D	3.11	0.87757	M	-0.35	0.68616	T	-2.23	0.50666	N	0.456	0.64223	0.409	0.89236	D	0.629	0.86960	D	9	0.008097768	0.00184	T	.	.	.	0.518	0.79461	.	.	0.720176921917	0.71771	.	.	0.455381697114	0.45213	0.577912807465	0.49792	T	.	.	.	-0.32077	0.06834	T	-0.216621	0.53063	T	0.0811897725999269	0.10139	T	0.956104	0.83996	D	.	.	.	.	.	.	.	.	-9.665	0.72712	D	.	.	0.691	0.72593	P	.;.;.;.;.;.;.	.;.;.;.;.;.;.	2.813963	0.37048	20.4	0.97582930358672293	0.34747	0.95696	0.65767	D	AEFGBI	0.645504	0.62137	D	0.926986148134166	0.93019	11.76993	0.866370983973504	0.93936	12.38489	0.999999998610919	0.74766	0.525926	0.21836	0	0.546412	0.12157	0	0.615948	0.41167	0	0.564101	0.26826	0	.	.	6.03	6.03	0.97798	3.342000	0.51877	.	.	0.599000	0.40250	0.996000	0.39380	1.000000	0.68203	0.994000	0.71098	0.0:1.0:0.0:0.0	20.557	0.99307	415	0.81806	.;.;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;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	1	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.02381	2483.98	35	chr2	178584852	.	C	T	2483.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-7.280e-01;DP=927;ExcessHet=0.0000;FS=2.436;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.67;ReadPosRankSum=-4.720e-01;SOR=0.870	GT:AD:DP:GQ:PL	0/1:100,96:196:99:2498,0,2638	20	0	1	0
chr2	178612802	178612802	C	G	exonic	TTN	.	nonsynonymous SNV	TTN:NM_003319:exon93:c.G22724C:p.S7575T	Cardiomyopathy, dilated, 1G;Cardiomyopathy, familial hypertrophic, 9;Muscular dystrophy, limb-girdle, type 2J, Autosomal recessive;Myopathy, early-onset, with fatal cardiomyopathy, Autosomal recessive;Myopathy, proximal, with early respiratory muscle involvement;Tibial muscular dystrophy, tardive, Autosomal dominant	.	1	1498	23	0	0	23	0.00761842	.	.	56201	Primary_dilated_cardiomyopathy|Cardiomyopathy|Early-onset_myopathy_with_fatal_cardiomyopathy|Myopathy,_myofibrillar,_9,_with_early_respiratory_failure|not_specified|not_provided|Dilated_cardiomyopathy_1G|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J|Cardiovascular_phenotype|Tibial_muscular_dystrophy	EFO:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,Human_Phenotype_Ontology:HP:0001725,Human_Phenotype_Ontology:HP:0005159,Human_Phenotype_Ontology:HP:0200130,MONDO:MONDO:0005021,MeSH:D002311,MedGen:C0007193,Orphanet:217604|Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705,Orphanet:289377|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689,Orphanet:178464,Orphanet:34521|MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145,Orphanet:154|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807,Orphanet:140922|MedGen:CN230736|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334,Orphanet:609	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0	D	0.997	D	0.98	D	.	.	1.000	D	1.62	L	-0.11	T	-0.155	T	0.443	T	0.243	2.209	13.34	5.71	2.697	7.770	19.85	0.233	.	0.0015	0.00599042	0.0045	0.0002	0.0012	0.0002	0	0.0018	0.0011	0.0240	0.0037192	575	154602	rs55663050	0.0022	0.0022	0.0016	0.0029	0.0211	0.0022	0.0021	0.0203	0.0199	0.0004	0.0007	0.0008	0.0002	7.498e-05	0.0043	0.0011	0.0030	0.0211	0.0018	0.0018	0.0016	0.0021	0.0245	0.0016	0.0016	0.0209	0.0196	0.0002	0	0.0018	0.0009	0	0	0	0.0017	0.0019	0.0245	0.197	0.20607	T	.	.	.	0.997	0.70673	D	0.98	0.74843	D	.	.	.	.	0.999998	0.58761	D	1.295	0.32453	L	-0.35	0.68892	T	-2.19	0.51157	N	0.32	0.53445	-0.1546	0.78803	T	0.443	0.78033	T	9	0.0046233535	0.00096	T	.	.	.	0.233	0.53499	.	.	0.378498632473	0.37457	.	.	0.43613436949	0.43717	0.786140263081	0.79856	T	.	.	.	-0.372229	0.03483	T	-0.290538	0.45718	T	0.048630500485067	0.05257	T	0.822018	0.48145	T	.	.	.	.	.	.	.	.	-2.304	0.04577	T	.	.	0.157	0.34819	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	3.106696	0.41893	21.4	0.91567465207823096	0.20846	0.98825	0.87349	D	AEFBI	0.947774	0.95869	D	0.782204565675657	0.84981	8.44205	0.790845855814436	0.89147	9.85807	0.999999999973674	0.74766	0.651	0.46895	0	0.708844	0.79440	0	0.658983	0.55881	0	0.620846	0.47308	0	.	.	5.71	5.71	0.89031	7.858000	0.85341	.	.	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.974000	0.55675	0.0:1.0:0.0:0.0	19.85	0.96733	413	0.81939	.;.;Fibronectin type III|Fibronectin type III;Fibronectin type III|Fibronectin type III;.;Fibronectin type III|Fibronectin type III;Fibronectin type III|Fibronectin type III	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2072.98	59	chr2	178612802	.	C	G	2072.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.32;DP=983;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.45;ReadPosRankSum=0.710;SOR=0.719	GT:AD:DP:GQ:PL	0/1:54,72:126:99:2087,0,1361	20	0	1	0
chr2	178617806	178617806	G	T	exonic	TTN	.	nonsynonymous SNV	TTN:NM_003319:exon81:c.C20350A:p.P6784T	Cardiomyopathy, dilated, 1G;Cardiomyopathy, familial hypertrophic, 9;Muscular dystrophy, limb-girdle, type 2J, Autosomal recessive;Myopathy, early-onset, with fatal cardiomyopathy, Autosomal recessive;Myopathy, proximal, with early respiratory muscle involvement;Tibial muscular dystrophy, tardive, Autosomal dominant	.	1	1495	26	0	0	26	0.00862069	.	.	56178	Dilated_cardiomyopathy_1G|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J|Tibial_muscular_dystrophy|not_specified|Primary_dilated_cardiomyopathy|Cardiomyopathy|Myopathy,_myofibrillar,_9,_with_early_respiratory_failure|Cardiovascular_phenotype|Early-onset_myopathy_with_fatal_cardiomyopathy|not_provided	MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145,Orphanet:154|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807,Orphanet:140922|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334,Orphanet:609|MedGen:CN169374|EFO:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,Human_Phenotype_Ontology:HP:0001725,Human_Phenotype_Ontology:HP:0005159,Human_Phenotype_Ontology:HP:0200130,MONDO:MONDO:0005021,MeSH:D002311,MedGen:C0007193,Orphanet:217604|Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689,Orphanet:178464,Orphanet:34521|MedGen:CN230736|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705,Orphanet:289377|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0	D	0.255	B	0.071	B	.	.	1.000	N	1.15	L	0.74	T	-0.891	T	0.128	T	0.276	1.504	10.98	5.54	2.779	4.772	19.841	0.152	.	0.0015	0.00599042	0.0043	0.0002	0.0011	0	0	0.0018	0.0011	0.0233	0.0036804	569	154602	rs146181477	0.0022	0.0022	0.0016	0.0028	0.0211	0.0022	0.0021	0.0203	0.0200	0.0003	0.0007	0.0008	5.056e-05	7.493e-05	0.0043	0.0011	0.0027	0.0211	0.0018	0.0018	0.0015	0.0020	0.0243	0.0016	0.0015	0.0207	0.0193	0.0002	0	0.0017	0.0009	0	0	0	0.0017	0.0014	0.0243	0.512	0.07449	T	.	.	.	0.255	0.31319	B	0.071	0.27960	B	.	.	.	.	0.814352	0.30443	N	1.735	0.44892	L	0.74	0.50459	T	-3.86	0.75058	D	0.332	0.41162	-0.8910	0.48846	T	0.128	0.43482	T	9	0.004316628	0.00087	T	.	.	.	0.152	0.39956	.	.	0.227934060464	0.22382	.	.	0.106357007443	0.12022	0.341280579567	0.16630	T	.	.	.	-0.478698	0.00753	T	-0.443473	0.28420	T	0.0223469174444407	0.00947	T	0.905909	0.66829	D	.	.	.	.	.	.	.	.	-5.205	0.38992	T	.	.	0.097	0.15832	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	2.764698	0.36273	20.2	0.89396471440767089	0.18761	0.95196	0.63793	D	AEFBI	0.624755	0.60821	D	0.183013412871647	0.50385	3.228884	0.349756529587991	0.58493	4.02008	0.999987839813543	0.51787	0.562547	0.31514	0	0.653731	0.59785	0	0.602189	0.34648	0	0.620846	0.47308	0	.	.	5.54	5.54	0.82907	3.839000	0.55539	.	.	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:1.0:0.0	19.841	0.96687	426	0.81110	.;.;Fibronectin type III|Fibronectin type III;Fibronectin type III|Fibronectin type III;.;Fibronectin type III|Fibronectin type III;Fibronectin type III|Fibronectin type III	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.02381	1991.98	33	chr2	178617806	.	G	T	1991.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.955;DP=867;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.72;ReadPosRankSum=-4.670e-01;SOR=0.660	GT:AD:DP:GQ:PL	0/1:91,79:170:99:2006,0,2323	20	0	1	0
chr2	178621649	178621649	C	T	exonic	TTN	.	nonsynonymous SNV	TTN:NM_003319:exon73:c.G17980A:p.A5994T	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	.	2	1497	23	0	0	23	0.00762347	.	.	56147	Primary_dilated_cardiomyopathy|Tibial_muscular_dystrophy|not_provided|Dilated_cardiomyopathy_1G|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J|Cardiovascular_phenotype|Cardiomyopathy|not_specified|Early-onset_myopathy_with_fatal_cardiomyopathy|Myopathy,_myofibrillar,_9,_with_early_respiratory_failure	EFO:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,Human_Phenotype_Ontology:HP:0001725,Human_Phenotype_Ontology:HP:0005159,Human_Phenotype_Ontology:HP:0200130,MONDO:MONDO:0005021,MeSH:D002311,MedGen:C0007193,Orphanet:217604|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334,Orphanet:609|MedGen:C3661900|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145,Orphanet:154|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807,Orphanet:140922|MedGen:CN230736|Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848|MedGen:CN169374|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705,Orphanet:289377|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689,Orphanet:178464,Orphanet:34521	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0	D	1.0	D	0.999	D	.	.	1.000	D	2.05	M	-0.24	T	-0.074	T	0.501	D	0.468	3.603	18.34	6.17	2.941	7.770	20.879	0.366	.	0.0015	0.00339457	0.0033	0.0003	0.0011	0	0	0.0018	0.0011	0.0159	0.0027943	432	154602	rs144668626	0.0019	0.0019	0.0014	0.0024	0.0155	0.0018	0.0018	0.0148	0.0145	0.0003	0.0007	0.0009	2.529e-05	7.498e-05	0.0035	0.0011	0.0024	0.0155	0.0016	0.0016	0.0014	0.0018	0.0193	0.0014	0.0014	0.0161	0.0149	0.0001	0	0.0017	0.0009	0	0	0	0.0017	0.0014	0.0193	0.023	0.48186	D	.	.	.	1.0	0.90584	D	0.999	0.92359	D	.	.	.	.	1	0.81001	D	2.215	0.62545	M	-0.24	0.66834	T	-2.79	0.61722	D	0.361	0.68950	-0.0744	0.80678	T	0.501	0.81134	D	9	0.006442368	0.00146	T	.	.	.	0.366	0.68582	.	.	0.430239905395	0.42638	.	.	0.457598942377	0.45392	0.454853713512	0.32607	T	.	.	.	-0.293428	0.09295	T	-0.181941	0.56343	T	0.0415014445753765	0.03963	T	0.947205	0.79675	D	.	.	.	.	.	.	.	.	-6.072	0.47988	T	.	.	0.109	0.20741	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	3.702705	0.52822	23.3	0.96553543848679368	0.30233	0.98914	0.88555	D	AEFBI	0.936874	0.93382	D	0.897424415611873	0.91632	10.983	0.902844141597971	0.95695	13.87403	0.999999999999998	0.74766	0.554377	0.28877	0	0.588066	0.40923	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	6.17	6.17	0.99707	7.858000	0.85341	.	.	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.969000	0.54022	0.0:1.0:0.0:0.0	20.879	0.99870	421	0.81399	.;.;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;.;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2731.98	35	chr2	178621649	.	C	T	2731.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.68;DP=1002;ExcessHet=0.0000;FS=5.689;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.83;ReadPosRankSum=0.563;SOR=1.031	GT:AD:DP:GQ:PL	0/1:166,112:278:99:2746,0,3940	20	0	1	0
chr2	178632614	178632614	C	T	exonic	TTN	.	nonsynonymous SNV	TTN:NM_003319:exon63:c.G16197A:p.M5399I	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	.	.	.	.	.	.	.	.	.	.	1189755	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0	D	0.002	B	0.009	B	.	.	1.000	N	0.17	N	-0.96	T	-0.767	T	0.237	T	0.363	1.340	10.40	6.1	2.902	0.583	15.434	0.321	0.0786025242127	8.2e-05	.	2.488e-05	0	8.649e-05	0	0	1.5e-05	0.0011	0	1.94e-05	3	154602	rs370601384	1.985e-05	1.984e-05	1.634e-05	2.339e-05	0.0001	1.392e-05	1.204e-05	4.359e-05	2.767e-05	0	0.0001	0	0	0	0	1.889e-05	4.971e-05	0	7.234e-05	7.224e-05	8.995e-05	5.388e-05	0.0004	3.975e-05	3.13e-05	0.0002	0.0001	4.825e-05	0	0.0004	0	0	0	0	4.413e-05	0	0	0.015	0.52492	D	.	.	.	0.002	0.09854	B	0.009	0.14300	B	.	.	.	.	0.934439	0.26970	N	0.695	0.17993	N	-0.96	0.75553	T	-1.15	0.29525	N	0.252	0.37197	-0.7672	0.57011	T	0.237	0.60379	T	9	0.16608346	0.31024	T	0.078603	0.73042	D	0.321	0.64318	0.591	0.71999	0.529161192476	0.52563	.	.	0.0935167950284	0.10561	0.309034466743	0.11760	T	.	.	.	-0.188226	0.22520	T	-0.282448	0.46553	T	0.040346974338235	0.03752	T	0.884911	0.68911	D	.	.	.	.	.	.	.	.	-3.334	0.14748	T	.	.	0.301	0.53048	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	3.059548	0.41082	21.3	0.90261452336047343	0.19532	0.84837	0.43929	D	AEFGBI	0.250385	0.37044	N	-0.0940190108197519	0.37654	2.193841	0.14937076465725	0.47107	2.946105	0.999791922941779	0.43153	0.554377	0.28877	0	0.588066	0.40923	0	0.602189	0.34648	0	0.530356	0.10902	0	.	.	6.1	6.1	0.99108	0.608000	0.23921	.	.	0.599000	0.40250	0.988000	0.36536	1.000000	0.68203	1.000000	0.97212	0.1389:0.8611:0.0:0.0	15.434	0.74858	433	0.80627	.;.;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;.;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.02381	3233.98	34	chr2	178632614	.	C	T	3233.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.271e+00;DP=942;ExcessHet=0.0000;FS=5.331;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.00;ReadPosRankSum=-5.380e-01;SOR=0.827	GT:AD:DP:GQ:PL	0/1:105,126:231:99:3248,0,2788	20	0	1	0
chr2	178659026	178659026	G	A	exonic	TTN	.	nonsynonymous SNV	TTN:NM_133378:exon155:c.C31720T:p.P10574S	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	.	233	1271	16	2	0	20	0.0078064	.	.	56080	not_provided|Myopathy,_myofibrillar,_9,_with_early_respiratory_failure|Dilated_cardiomyopathy_1G|Tibial_muscular_dystrophy|Early-onset_myopathy_with_fatal_cardiomyopathy|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J|not_specified|Primary_dilated_cardiomyopathy	MedGen:C3661900|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689,Orphanet:178464,Orphanet:34521|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145,Orphanet:154|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334,Orphanet:609|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705,Orphanet:289377|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807,Orphanet:140922|MedGen:CN169374|EFO:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,Human_Phenotype_Ontology:HP:0001725,Human_Phenotype_Ontology:HP:0005159,Human_Phenotype_Ontology:HP:0200130,MONDO:MONDO:0005021,MeSH:D002311,MedGen:C0007193,Orphanet:217604	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0	D	0.261	B	0.07	B	.	.	1.000	D	2.305	M	-0.61	T	-0.642	T	0.242	T	0.215	0.830	8.346	1.01	0.850	0.235	1.972	0.131	0.0164089182367	.	.	.	.	.	.	.	.	.	.	0.0002305	6	26028	rs200992277	0.0027	0.0022	0.0019	0.0034	0.0214	0.0026	0.0025	0.0204	0.0200	0.0004	0.0009	0.0009	0.0002	6.625e-05	0.0046	0.0014	0.0029	0.0214	0.0022	0.0019	0.0018	0.0026	0.0313	0.0020	0.0019	0.0261	0.0242	0.0002	0	0.0024	0.0011	0	0	0	0.0021	0.0022	0.0313	0.04	0.42199	D	.	.	.	0.0	0.02946	B	0.001	0.04355	B	.	.	.	.	0.999912	0.51042	D	.	.	.	-0.61	0.71779	T	-3.52	0.68412	D	0.182	0.22357	-0.6420	0.63060	T	0.242	0.61012	T	9	0.0039824545	0.00077	T	0.016409	0.37653	T	0.131	0.35738	.	.	0.242244723065	0.23846	.	.	0.10059525999	0.11367	0.374639153481	0.21494	T	.	.	.	-0.104603	0.35662	T	-0.388031	0.34782	T	0.0182385127210197	0.00544	T	0.525248	0.26315	T	.	.	.	.	.	.	.	.	-8.519	0.64555	D	.	.	0.159	0.35098	B	.;.;.	.;.;.	1.398936	0.18129	13.56	0.77473308228391879	0.11891	0.11269	0.16522	N	AEFI	0.073094	0.14609	N	-0.457765735320585	0.23478	1.261062	-0.487687774750454	0.22491	1.221904	0.00265572977610148	0.09608	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.12	1.01	0.19044	-0.131000	0.10461	.	.	0.508000	0.23123	0.000000	0.06391	0.000000	0.08366	0.883000	0.42306	0.1907:0.1228:0.4717:0.2148	1.972	0.03202	441	0.80015	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	1	0	0	0	0.02381	160.0	13	chr2	178659026	.	G	A	160.0	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.00;DP=278;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0259;MLEAC=1;MLEAF=0.024;MQ=25.85;MQRankSum=-1.989e+00;QD=13.33;ReadPosRankSum=-8.660e-01;SOR=0.293	GT:AD:DP:GQ:PL	0/1:5,7:12:99:174,0,121	20	0	1	0
chr2	178675085	178675085	T	G	exonic	TTN	.	nonsynonymous SNV	TTN:NM_133378:exon145:c.A30663C:p.E10221D	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	.	2	1497	23	0	0	23	0.00762347	.	.	56069	not_provided|Tibial_muscular_dystrophy|Myopathy,_myofibrillar,_9,_with_early_respiratory_failure|Dilated_cardiomyopathy_1G|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J|Early-onset_myopathy_with_fatal_cardiomyopathy|Cardiomyopathy|not_specified|Primary_dilated_cardiomyopathy	MedGen:C3661900|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334,Orphanet:609|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689,Orphanet:178464,Orphanet:34521|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145,Orphanet:154|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807,Orphanet:140922|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705,Orphanet:289377|Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848|MedGen:CN169374|EFO:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,Human_Phenotype_Ontology:HP:0001725,Human_Phenotype_Ontology:HP:0005159,Human_Phenotype_Ontology:HP:0200130,MONDO:MONDO:0005021,MeSH:D002311,MedGen:C0007193,Orphanet:217604	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0	D	0.256	B	0.076	B	.	.	1.000	D	1.79	L	-0.99	T	-0.656	T	0.287	T	0.13	1.930	12.41	3.31	0.428	1.245	7.624	0.114	.	0.0015	0.00599042	0.0044	0.0002	0.0012	0.0002	0	0.0018	0.0011	0.0240	0.0036869	570	154602	rs140640738	0.0021	0.0022	0.0015	0.0026	0.0204	0.0020	0.0020	0.0195	0.0192	0.0005	0.0007	0.0009	0.0002	7.563e-05	0.0039	0.0010	0.0028	0.0204	0.0018	0.0018	0.0016	0.0021	0.0239	0.0016	0.0016	0.0204	0.0190	0.0003	0	0.0018	0.0009	0	0	0	0.0017	0.0019	0.0239	0.226	0.18562	T	.	.	.	0.256	0.31372	B	0.076	0.28435	B	.	.	.	.	1	0.81001	D	2.395	0.69210	M	-0.99	0.76168	T	-1.17	0.29933	N	0.162	0.17002	-0.6563	0.62439	T	0.287	0.65899	T	9	0.0028508902	0.00045	T	.	.	.	0.114	0.32008	0.103	0.01643	0.315314060047	0.31143	.	.	0.0921290850825	0.10402	0.378360688686	0.22023	T	.	.	.	-0.455528	0.01047	T	-0.410855	0.32125	T	0.0261382429619195	0.01425	T	0.39586	0.12846	T	.	.	.	.	.	.	.	.	-8.571	0.64898	D	.	.	0.381	0.58487	A	.;.;.;.	.;.;.;.	2.365297	0.30344	18.41	0.79256076521976482	0.12660	0.92980	0.57023	D	AEFBI	0.394143	0.47151	N	-0.239806522051127	0.31511	1.767698	-0.183750437617861	0.32132	1.825115	0.00121544646940768	0.08343	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.7	3.31	0.37025	0.842000	0.27280	.	.	0.665000	0.62972	0.955000	0.33325	1.000000	0.68203	0.867000	0.41218	0.126:0.0681:0.0:0.806	7.624	0.27367	394	0.83065	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.02381	1149.98	34	chr2	178675085	.	T	G	1149.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.990e-01;DP=782;ExcessHet=0.0000;FS=0.810;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.22;ReadPosRankSum=-3.640e-01;SOR=0.642	GT:AD:DP:GQ:PL	0/1:38,49:87:99:1164,0,852	20	0	1	0
chr2	178717244	178717244	C	T	exonic	TTN	.	nonsynonymous SNV	TTN:NM_133378:exon85:c.G21758A:p.R7253H	Cardiomyopathy, dilated, 1G;Cardiomyopathy, familial hypertrophic, 9;Muscular dystrophy, limb-girdle, type 2J, Autosomal recessive;Myopathy, early-onset, with fatal cardiomyopathy, Autosomal recessive;Myopathy, proximal, with early respiratory muscle involvement;Tibial muscular dystrophy, tardive, Autosomal dominant	.	1	1495	26	0	0	26	0.00862069	.	.	55924	Early-onset_myopathy_with_fatal_cardiomyopathy|Primary_dilated_cardiomyopathy|Tibial_muscular_dystrophy|Dilated_cardiomyopathy_1G|not_specified|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J|not_provided|Cardiomyopathy|Myopathy,_myofibrillar,_9,_with_early_respiratory_failure	MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705,Orphanet:289377|EFO:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,Human_Phenotype_Ontology:HP:0001725,Human_Phenotype_Ontology:HP:0005159,Human_Phenotype_Ontology:HP:0200130,MONDO:MONDO:0005021,MeSH:D002311,MedGen:C0007193,Orphanet:217604|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334,Orphanet:609|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145,Orphanet:154|MedGen:CN169374|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807,Orphanet:140922|MedGen:C3661900|Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689,Orphanet:178464,Orphanet:34521	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0	D	0.99	D	0.683	P	.	.	1.000	D	1.105	L	-0.32	T	-0.418	T	0.313	T	0.381	0.902	8.669	5.52	2.745	1.953	19.812	0.192	.	0.0015	0.00599042	0.0043	0.0002	0.0011	0	0	0.0018	0.0011	0.0232	0.0037192	575	154602	rs149855485	0.0023	0.0023	0.0016	0.0029	0.0210	0.0022	0.0022	0.0202	0.0199	0.0004	0.0007	0.0008	7.559e-05	7.493e-05	0.0043	0.0011	0.0027	0.0210	0.0018	0.0018	0.0015	0.0021	0.0245	0.0016	0.0015	0.0209	0.0196	0.0002	0	0.0017	0.0009	0.0002	0	0	0.0017	0.0014	0.0245	0.043	0.41364	D	.	.	.	0.99	0.63424	D	0.683	0.53559	P	.	.	.	.	1	0.81001	D	.	.	.	-0.32	0.68181	T	-2.41	0.52938	N	0.226	0.32259	-0.4178	0.71463	T	0.313	0.68326	T	9	0.005892992	0.00132	T	.	.	.	0.192	0.47115	.	.	0.44711355012	0.44333	.	.	0.349254591091	0.36782	0.562482059002	0.47618	T	.	.	.	-0.371096	0.03539	T	-0.288911	0.45886	T	0.0385244386504448	0.03425	T	0.869813	0.73860	D	.	.	.	.	.	.	.	.	-5.161	0.38543	T	.	.	0.216	0.44617	B	.;.;.;.	.;.;.;.	3.448176	0.47999	22.5	0.86646601825568803	0.16677	0.81721	0.41068	D	AEFBCI	0.334148	0.43301	N	0.419899694833852	0.62517	4.468879	0.441882660854808	0.64196	4.669426	0.364662819652845	0.19811	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.52	5.52	0.82153	1.594000	0.36307	.	.	0.599000	0.40250	0.790000	0.29595	1.000000	0.68203	0.929000	0.46594	0.0:1.0:0.0:0.0	19.812	0.96549	343	0.85802	.;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin V-set domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin V-set domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin V-set 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	1	0	0	0	0	1	0	0.02381	1531.98	34	chr2	178717244	.	C	T	1531.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.360e-01;DP=833;ExcessHet=0.0000;FS=1.380;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.61;ReadPosRankSum=-5.530e-01;SOR=0.655	GT:AD:DP:GQ:PL	0/1:68,64:132:99:1546,0,1676	20	0	1	0
chr2	178720104	178720104	G	C	exonic	TTN	.	nonsynonymous SNV	TTN:NM_133378:exon78:c.C19806G:p.F6602L	Cardiomyopathy, dilated, 1G;Cardiomyopathy, familial hypertrophic, 9;Muscular dystrophy, limb-girdle, type 2J, Autosomal recessive;Myopathy, early-onset, with fatal cardiomyopathy, Autosomal recessive;Myopathy, proximal, with early respiratory muscle involvement;Tibial muscular dystrophy, tardive, Autosomal dominant	.	0	1496	26	0	0	26	0.00861498	.	.	55886	Tibial_muscular_dystrophy|Primary_dilated_cardiomyopathy|Dilated_cardiomyopathy_1G|Myopathy,_myofibrillar,_9,_with_early_respiratory_failure|not_specified|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J|Early-onset_myopathy_with_fatal_cardiomyopathy|not_provided|Cardiomyopathy	MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334,Orphanet:609|EFO:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,Human_Phenotype_Ontology:HP:0001725,Human_Phenotype_Ontology:HP:0005159,Human_Phenotype_Ontology:HP:0200130,MONDO:MONDO:0005021,MeSH:D002311,MedGen:C0007193,Orphanet:217604|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145,Orphanet:154|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689,Orphanet:178464,Orphanet:34521|MedGen:CN169374|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807,Orphanet:140922|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705,Orphanet:289377|MedGen:C3661900|Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0	D	0.885	P	0.484	P	.	.	0.993	D	1.77	L	-0.23	T	-0.546	T	0.246	T	0.388	1.199	9.870	-2.56	-0.309	0.884	13.015	0.185	.	0.0015	0.00599042	0.0043	0.0002	0.0011	0	0	0.0018	0.0011	0.0232	0.003661	566	154602	rs149523263	0.0022	0.0022	0.0016	0.0028	0.0210	0.0022	0.0021	0.0202	0.0199	0.0003	0.0007	0.0008	5.039e-05	7.491e-05	0.0043	0.0011	0.0027	0.0210	0.0018	0.0018	0.0015	0.0021	0.0245	0.0016	0.0015	0.0209	0.0195	0.0002	0	0.0017	0.0009	0	0	0	0.0016	0.0014	0.0245	0.315	0.13789	T	.	.	.	0.885	0.48692	P	0.484	0.47189	P	.	.	.	.	0.992504	0.41663	D	.	.	.	-0.23	0.66652	T	-3.28	0.65627	D	0.39	0.45615	-0.5456	0.66952	T	0.246	0.61530	T	9	0.0049153566	0.00105	T	.	.	.	0.185	0.45933	0.578	0.70347	0.323615622048	0.31974	.	.	0.255002372626	0.28080	0.692162632942	0.66016	T	.	.	.	-0.403512	0.02196	T	-0.335473	0.40855	T	0.0733571982613626	0.09114	T	0.655934	0.29249	T	.	.	.	.	.	.	.	.	-5.741	0.47264	T	.	.	0.925	0.84574	P	.;.;.;.	.;.;.;.	0.710161	0.10788	7.474	0.85799480559834507	0.16120	0.31520	0.24358	N	AEFBI	0.349517	0.44328	N	-0.44675294682716	0.23851	1.283709	-0.585824586972663	0.19863	1.06759	0.0050570851190488	0.10811	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.9	-2.56	0.05903	0.894000	0.27983	.	.	-0.113000	0.14837	0.173000	0.23973	0.001000	0.17328	0.989000	0.64315	0.7189:0.0:0.2811:0.0	13.015	0.58157	343	0.85802	.;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype	.	.	.	.	.	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	0.02381	2364.98	41	chr2	178720104	.	G	C	2364.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.972e+00;DP=935;ExcessHet=0.0000;FS=1.161;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.65;ReadPosRankSum=0.160;SOR=0.572	GT:AD:DP:GQ:PL	0/1:91,96:187:99:2379,0,2404	20	0	1	0
chr2	178727190	178727190	T	C	exonic	TTN	.	nonsynonymous SNV	TTN:NM_133378:exon66:c.A16443G:p.I5481M	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	.	2	1494	26	0	0	26	0.00862641	.	.	55832	not_provided|Tibial_muscular_dystrophy|not_specified|Dilated_cardiomyopathy_1G|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J|Myopathy,_myofibrillar,_9,_with_early_respiratory_failure|Cardiomyopathy|Early-onset_myopathy_with_fatal_cardiomyopathy|Primary_dilated_cardiomyopathy	MedGen:C3661900|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334,Orphanet:609|MedGen:CN169374|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145,Orphanet:154|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807,Orphanet:140922|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689,Orphanet:178464,Orphanet:34521|Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705,Orphanet:289377|EFO:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,Human_Phenotype_Ontology:HP:0001725,Human_Phenotype_Ontology:HP:0005159,Human_Phenotype_Ontology:HP:0200130,MONDO:MONDO:0005021,MeSH:D002311,MedGen:C0007193,Orphanet:217604	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0	D	0.001	B	0.008	B	.	.	1.000	D	1.035	L	0.97	T	-1.083	T	0.056	T	0.344	0.299	5.621	-6.74	-1.267	-0.954	2.94	0.090	.	0.0015	0.00599042	0.0043	0.0002	0.0011	0	0	0.0018	0.0011	0.0232	0.003661	566	154602	rs146627500	0.0022	0.0022	0.0016	0.0028	0.0210	0.0021	0.0021	0.0201	0.0198	0.0003	0.0007	0.0008	5.04e-05	7.492e-05	0.0043	0.0011	0.0027	0.0210	0.0018	0.0018	0.0015	0.0021	0.0244	0.0016	0.0015	0.0209	0.0195	0.0002	0	0.0017	0.0009	0	0	0	0.0016	0.0014	0.0244	0.114	0.28646	T	.	.	.	0.001	0.07471	B	0.008	0.13708	B	.	.	.	.	1	0.81001	D	.	.	.	0.97	0.42502	T	-0.54	0.16598	N	0.282	0.31925	-1.0827	0.06833	T	0.056	0.23753	T	9	0.003027141	0.00050	T	.	.	.	0.090	0.26093	.	.	0.134241683229	0.13084	.	.	0.0864879405707	0.09766	0.372696995735	0.21219	T	.	.	.	-0.5345	0.00361	T	-0.523629	0.19927	T	0.0105953431527729	0.00148	T	0.708229	0.31875	T	.	.	.	.	.	.	.	.	-3.332	0.15587	T	.	.	0.111	0.21691	B	.;.;.;.	.;.;.;.	0.350729	0.07236	3.837	0.62127654994000703	0.06883	0.05411	0.11281	N	AEFGBCI	0.125355	0.24182	N	-1.21182827757915	0.04826	0.2186909	-1.26363312318132	0.04932	0.2338384	0.999762739685858	0.42728	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	6.03	-6.74	0.01580	-0.713000	0.05110	.	.	-0.123000	0.13640	0.033000	0.20612	0.000000	0.08366	0.939000	0.47918	0.4322:0.3181:0.0839:0.1659	2.94	0.05470	343	0.85802	.;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin V-set domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin V-set domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin V-set 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	1	0	0	1	0	1	0	0.02381	1517.98	38	chr2	178727190	.	T	C	1517.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.380;DP=876;ExcessHet=0.0000;FS=2.830;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.31;ReadPosRankSum=-1.496e+00;SOR=0.490	GT:AD:DP:GQ:PL	0/1:97,66:163:99:1532,0,2551	20	0	1	0
chr2	178729332	178729332	T	C	exonic	TTN	.	nonsynonymous SNV	TTN:NM_133378:exon61:c.A15092G:p.N5031S	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	.	2	1493	27	0	0	27	0.00896117	.	.	55811	Dilated_cardiomyopathy_1G|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J|not_provided|Tibial_muscular_dystrophy|not_specified|Early-onset_myopathy_with_fatal_cardiomyopathy|Cardiomyopathy|Myopathy,_myofibrillar,_9,_with_early_respiratory_failure|Primary_dilated_cardiomyopathy	MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145,Orphanet:154|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807,Orphanet:140922|MedGen:C3661900|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334,Orphanet:609|MedGen:CN169374|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705,Orphanet:289377|Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689,Orphanet:178464,Orphanet:34521|EFO:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,Human_Phenotype_Ontology:HP:0001725,Human_Phenotype_Ontology:HP:0005159,Human_Phenotype_Ontology:HP:0200130,MONDO:MONDO:0005021,MeSH:D002311,MedGen:C0007193,Orphanet:217604	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0	D	0.362	B	0.11	B	.	.	1.000	D	2.895	M	0.32	T	-0.555	T	0.244	T	0.2	1.084	9.426	5.92	2.255	6.281	12.2	0.286	.	0.0015	0.00599042	0.0044	0.0002	0.0012	0.0002	0.0002	0.0018	0.0011	0.0244	0.0037904	586	154602	rs184412722	0.0023	0.0023	0.0016	0.0029	0.0214	0.0022	0.0022	0.0206	0.0203	0.0004	0.0007	0.0008	0.0002	7.493e-05	0.0042	0.0011	0.0030	0.0214	0.0018	0.0018	0.0015	0.0022	0.0244	0.0017	0.0016	0.0209	0.0195	0.0002	0	0.0018	0.0009	0	9.418e-05	0	0.0017	0.0019	0.0244	0.075	0.34444	T	.	.	.	0.362	0.33945	B	0.11	0.31460	B	.	.	.	.	1	0.81001	D	.	.	.	0.32	0.58468	T	-2.25	0.50337	N	0.417	0.45709	-0.5551	0.66591	T	0.244	0.61272	T	9	0.005814582	0.00130	T	.	.	.	0.286	0.60456	.	.	0.173771789658	0.16945	.	.	0.0891353627514	0.10071	0.453017085791	0.32355	T	.	.	.	-0.448893	0.01146	T	-0.400661	0.33307	T	0.0272107643053202	0.01574	T	0.841416	0.55722	T	.	.	.	.	.	.	.	.	-5.947	0.45833	T	.	.	0.347	0.56370	A	.;.;.;.	.;.;.;.	2.852582	0.37665	20.6	0.93888962463808012	0.23911	0.97952	0.78382	D	AEFBI	0.889010	0.82269	D	0.31910689628272	0.57128	3.879228	0.382029825457792	0.60457	4.233519	0.999998892425968	0.74766	0.553676	0.25195	0	0.588015	0.36545	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	5.92	5.92	0.95557	6.260000	0.72463	.	.	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.957000	0.51019	0.0:0.068:0.0:0.932	12.2	0.53629	343	0.85802	.;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype	.	.	.	.	.	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	0.02381	2419.98	46	chr2	178729332	.	T	C	2419.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.191e+00;DP=901;ExcessHet=0.0000;FS=1.215;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.32;ReadPosRankSum=0.369;SOR=0.582	GT:AD:DP:GQ:PL	0/1:77,92:169:99:2434,0,2069	20	0	1	0
chr2	178739374	178739374	C	T	exonic	TTN	.	nonsynonymous SNV	TTN:NM_003319:exon45:c.G12770A:p.G4257D	Cardiomyopathy, dilated, 1G;Cardiomyopathy, familial hypertrophic, 9;Muscular dystrophy, limb-girdle, type 2J, Autosomal recessive;Myopathy, early-onset, with fatal cardiomyopathy, Autosomal recessive;Myopathy, proximal, with early respiratory muscle involvement;Tibial muscular dystrophy, tardive, Autosomal dominant	.	1	1494	27	0	0	27	0.00895522	.	.	57005	Early-onset_myopathy_with_fatal_cardiomyopathy|Tibial_muscular_dystrophy|Cardiomyopathy|not_specified|Myopathy,_myofibrillar,_9,_with_early_respiratory_failure|not_provided|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J|Cardiovascular_phenotype|Dilated_cardiomyopathy_1G|Primary_dilated_cardiomyopathy	MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705,Orphanet:289377|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334,Orphanet:609|Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848|MedGen:CN169374|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689,Orphanet:178464,Orphanet:34521|MedGen:C3661900|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807,Orphanet:140922|MedGen:CN230736|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145,Orphanet:154|EFO:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,Human_Phenotype_Ontology:HP:0001725,Human_Phenotype_Ontology:HP:0005159,Human_Phenotype_Ontology:HP:0200130,MONDO:MONDO:0005021,MeSH:D002311,MedGen:C0007193,Orphanet:217604	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0	D	0.002	B	0.007	B	.	.	1.000	N	2.315	M	-1.39	T	-0.421	T	0.463	T	0.473	1.749	11.81	4.11	2.826	2.474	12.781	0.404	.	0.0015	0.00599042	0.0044	0.0002	0.0012	0.0002	0.0002	0.0018	0.0011	0.0237	0.0038033	588	154602	rs55857742	0.0023	0.0023	0.0016	0.0029	0.0215	0.0022	0.0022	0.0207	0.0203	0.0004	0.0007	0.0008	0.0002	7.491e-05	0.0043	0.0011	0.0030	0.0215	0.0018	0.0018	0.0015	0.0022	0.0245	0.0017	0.0016	0.0209	0.0195	0.0002	0	0.0018	0.0009	0	9.413e-05	0	0.0017	0.0019	0.0245	0.072	0.43708	T	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	-1.39	0.80387	T	-3.42	0.67241	D	0.18	0.29544	-0.4215	0.71343	T	0.463	0.79184	T	9	0.0029836297	0.00049	T	.	.	.	0.404	0.71714	.	.	0.460085558651	0.45632	.	.	0.111281827237	0.12551	0.334556162357	0.15621	T	.	.	.	-0.303831	0.08303	T	-0.191623	0.55438	T	0.0117996802454498	0.00183	T	0.761124	0.38584	T	.	.	.	.	.	.	.	.	-6.471	0.51765	T	.	.	0.263	0.49778	B	.;.;.;.;.;.	.;.;.;.;.;.	2.343047	0.30033	18.31	0.8799622643053111	0.17638	0.83349	0.42473	D	AEFBI	0.400265	0.47522	N	0.110203264691486	0.46938	2.926641	0.242081919184515	0.52201	3.396456	0.989212832954963	0.31756	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.93	4.11	0.47350	2.483000	0.44891	.	.	0.599000	0.40250	0.985000	0.35982	0.982000	0.30508	0.916000	0.45140	0.0:0.8472:0.0:0.1528	12.781	0.56855	341	0.85936	.;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;.;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin I-set|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	1	0	0	0	0	1	0	0.02381	2531.98	33	chr2	178739374	.	C	T	2531.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.70;DP=925;ExcessHet=0.0000;FS=0.486;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.87;ReadPosRankSum=-1.550e-01;SOR=0.765	GT:AD:DP:GQ:PL	0/1:135,98:233:99:2546,0,3544	20	0	1	0
chr2	178747908	178747908	C	T	exonic	TTN	.	nonsynonymous SNV	TTN:NM_133379:exon46:c.G14492A:p.C4831Y,	Cardiomyopathy, dilated, 1G;Cardiomyopathy, familial hypertrophic, 9;Muscular dystrophy, limb-girdle, type 2J, Autosomal recessive;Myopathy, early-onset, with fatal cardiomyopathy, Autosomal recessive;Myopathy, proximal, with early respiratory muscle involvement;Tibial muscular dystrophy, tardive, Autosomal dominant	.	0	1495	27	0	0	27	0.00894929	.	.	56937	not_specified|not_provided|Dilated_cardiomyopathy_1G|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J	MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145,Orphanet:154|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807,Orphanet:140922	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.06	T	0.0	B	0.0	B	.	.	1.000	N	-0.55	N	0.49	T	-1.040	T	0.056	T	0.085	-0.319	2.485	-0.046	0.051	0.859	4.639	0.071	.	0.0016	0.00599042	0.0048	0.0002	0.0013	0.0002	0.0002	0.0024	0.0022	0.0236	0.004075	630	154602	rs150615457	0.0025	0.0025	0.0019	0.0031	0.0214	0.0024	0.0024	0.0206	0.0202	0.0004	0.0007	0.0078	0.0002	7.494e-05	0.0043	0.0012	0.0034	0.0214	0.0020	0.0020	0.0017	0.0023	0.0243	0.0018	0.0018	0.0207	0.0194	0.0003	0	0.0020	0.0069	0	9.418e-05	0	0.0018	0.0019	0.0243	0.164	0.23360	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	.	.	.	0.49	0.55775	T	-0.62	0.18248	N	0.365	0.40665	-1.0397	0.17404	T	0.056	0.23677	T	9	0.0023964047	0.00036	T	.	.	.	0.071	0.20720	.	.	0.104622674875	0.10061	.	.	.	.	.	.	.	.	.	.	-0.606244	0.00133	T	-0.626684	0.10667	T	0.000297577760647982	0.00002	T	0.352165	0.07899	T	.	.	.	.	.	.	.	.	-2.316	0.04644	T	.	.	.	.	.	.	.	0.582094	0.09507	6.283	0.46977788880536381	0.03805	0.06117	0.12094	N	ALL	0.051159	0.09011	N	-1.2018487862931	0.04973	0.2256495	-1.16424173951511	0.06516	0.3138828	0.999981151506482	0.51787	0.559995	0.30671	0	0.573888	0.26702	0	0.573888	0.23631	0	0.550183	0.17644	0	.	.	5.62	-0.0456	0.13179	0.703000	0.25321	.	.	-0.182000	0.10109	0.000000	0.06391	0.000000	0.08366	0.019000	0.11356	0.1987:0.2859:0.0:0.5154	4.639	0.11923	341	0.85936	.	.	.	.	.	.	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	0.02381	2898.98	33	chr2	178747908	.	C	T	2898.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.622e+00;DP=1122;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.61;ReadPosRankSum=-1.122e+00;SOR=0.670	GT:AD:DP:GQ:PL	0/1:104,109:213:99:2913,0,2709	20	0	1	0
chr2	178795088	178795088	C	G	exonic	TTN	.	nonsynonymous SNV	TTN:NM_001256850:exon7:c.G1079C:p.R360T	Cardiomyopathy, dilated, 1G;Cardiomyopathy, familial hypertrophic, 9;Muscular dystrophy, limb-girdle, type 2J, Autosomal recessive;Myopathy, early-onset, with fatal cardiomyopathy, Autosomal recessive;Myopathy, proximal, with early respiratory muscle involvement;Tibial muscular dystrophy, tardive, Autosomal dominant	.	0	1498	24	0	0	24	0.00794702	.	.	55752	Tibial_muscular_dystrophy|Myopathy,_myofibrillar,_9,_with_early_respiratory_failure|not_provided|not_specified|Dilated_cardiomyopathy_1G|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J|Cardiovascular_phenotype|Early-onset_myopathy_with_fatal_cardiomyopathy|Cardiomyopathy	MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334,Orphanet:609|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689,Orphanet:178464,Orphanet:34521|MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145,Orphanet:154|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807,Orphanet:140922|MedGen:CN230736|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705,Orphanet:289377|Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0	D	0.617	P	0.173	B	.	.	0.986	N	0.345	N	0.44	T	-1.012	T	0.084	T	0.56	2.015	12.69	4.37	1.622	1.067	6.433	0.205	.	0.0062	0.0119808	0.0062	0.0158	0.0023	0	0.0002	0.0024	0.0022	0.0242	0.0056015	866	154602	rs56128843	0.0029	0.0029	0.0024	0.0035	0.0222	0.0028	0.0028	0.0213	0.0210	0.0161	0.0017	0.0078	5.04e-05	5.63e-05	0.0045	0.0011	0.0043	0.0222	0.0061	0.0061	0.0058	0.0064	0.0253	0.0057	0.0056	0.0217	0.0203	0.0139	0	0.0042	0.0069	0	9.414e-05	0.0034	0.0018	0.0047	0.0253	0.202	0.40573	T	0.148	0.32675	T	0.049	0.39849	B	0.024	0.35463	B	.	.	.	.	0.991562	0.24656	N	.	.	.	0.05	0.61923	T	-2.16	0.55501	N	0.211	0.26111	-1.0117	0.26385	T	0.084	0.32872	T	9	0.0042310655	0.00085	T	.	.	.	0.205	0.49236	.	.	0.326074293725	0.32213	.	.	0.131694048728	0.14851	0.443247795105	0.31022	T	.	.	.	-0.358862	0.04195	T	-0.270672	0.47751	T	0.00485736865674171	0.00052	T	0.771723	0.42389	T	.	.	.	.	.	.	.	.	-3.089	0.12383	T	.	.	0.258	0.49285	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	2.871459	0.37970	20.6	0.87640978987418272	0.17374	0.93855	0.59386	D	AEFDBI	0.579134	0.58006	D	-0.140723798226333	0.35630	2.049057	0.0513447974566371	0.42138	2.543468	0.997183769758073	0.35354	0.554377	0.28877	0	0.588066	0.40923	0	0.547309	0.15389	0	0.566403	0.31848	0	.	.	6.16	4.37	0.51830	1.105000	0.30699	.	.	0.599000	0.40250	0.993000	0.37899	1.000000	0.68203	0.990000	0.65344	0.0:0.6524:0.1423:0.2053	6.433	0.21009	365	0.84644	.;.;.;.;.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	4054.98	34	chr2	178795088	.	C	G	4054.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.260e+00;DP=982;ExcessHet=0.0000;FS=0.918;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.48;ReadPosRankSum=0.543;SOR=0.771	GT:AD:DP:GQ:PL	0/1:125,155:280:99:4069,0,3316	20	0	1	0
chr2	178850085	178850085	T	-	exonic	CCDC141	.	frameshift deletion	CCDC141:NM_173648:exon21:c.3321delA:p.L1107Ffs*12,	.	.	431	1090	1	0	0	1	0.000458505	.	.	2879935	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	.	0.0003	9.639e-05	0.0002	0	0	0.0001	0.0011	0.0017	0.0002523	39	154602	rs766744078	0.0002	0.0002	0.0001	0.0002	0.0016	0.0001	0.0001	0.0013	0.0013	0	0.0001	0	0	0	0.0002	6.314e-05	0.0001	0.0016	0.0002	0.0002	0.0002	0.0001	0.0010	0.0001	8.708e-05	0.0004	0.0003	7.213e-05	0	0.0005	0	0	0	0	0.0001	0	0.0010	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1051.94	34	chr2	178850084	.	AT	A	1051.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.87;DP=774;ExcessHet=0.0000;FS=0.817;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.09;ReadPosRankSum=-5.290e-01;SOR=0.799	GT:AD:DP:GQ:PL	0/1:54,33:87:99:1066,0,1917	20	0	1	0
chr2	186504215	186504215	G	A	splicing	ZC3H15	NM_018471:exon6:c.717+1G>A	.	.	.	.	.	.	.	.	.	.	.	1.0000	0.934	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.000	D	.	.	.	.	.	.	.	.	.	3.482	17.82	5.01	2.497	9.756	18.684	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.59e-06	3.296e-05	1.582e-06	1.598e-06	1.463e-05	2.6e-07	1e-07	.	.	0	0	0	0	2.117e-05	0	0	0	1.463e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.36496	0.87625	D	0.286463	0.87465	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.078213	0.96114	35	0.99490046545528399	0.67403	0.99024	0.90115	D	ALL	.	.	.	1.14176403290314	0.98836	19.55828	0.977087065195557	0.98133	17.50421	1.0	0.98316	0.17398	0.03958	1	0.011162	0.00042	3	0.199235	0.04519	0	0.113624	0.03431	2	0.984412	0.91620	5.01	5.01	0.66477	9.889000	0.98569	11.679000	0.94198	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.978000	0.57271	0.0:0.0:1.0:0.0	18.684	0.91518	410	0.82135	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	1309.41	47	chr2	186504215	.	G	A,C	1309.41	.	AC=8,9;AF=0.235,0.265;AN=34;BaseQRankSum=1.04;DP=1083;ExcessHet=35.6159;FS=116.098;InbreedingCoeff=-0.7527;MLEAC=9,11;MLEAF=0.265,0.324;MQ=60.00;MQRankSum=0.00;QD=1.69;ReadPosRankSum=1.80;SOR=10.529	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:26,6,11:43:39:.:.:39,62,463,0,367,377	0	0	8	4
chr2	186504215	186504215	G	C	splicing	ZC3H15	NM_018471:exon6:c.717+1G>C	.	.	.	.	.	.	.	.	.	.	.	1.0000	0.934	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.000	D	.	.	.	.	.	.	.	.	.	3.361	17.33	5.01	2.497	9.756	18.684	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0007	0.0056	0.0007	0.0006	0.0009	0.0006	0.0006	0.0007	0.0007	0.0006	9.356e-05	0.0004	0.0002	0.0001	0.0009	0.0008	0.0006	0.0003	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.300962	0.83045	D	0.194535	0.82825	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.169298	0.96223	35	0.9948224112750832	0.66959	0.99140	0.91816	D	ALL	.	.	.	1.14176403290314	0.98836	19.55828	0.977087065195557	0.98133	17.50421	1.0	0.98316	0.17398	0.03958	1	0.011162	0.00042	3	0.199235	0.04519	0	0.113624	0.03431	2	0.984412	0.91620	5.01	5.01	0.66477	9.889000	0.98569	11.679000	0.94198	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.978000	0.57271	0.0:0.0:1.0:0.0	18.684	0.91518	410	0.82135	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	1309.41	47	chr2	186504215	.	G	A,C	1309.41	.	AC=8,9;AF=0.235,0.265;AN=34;BaseQRankSum=1.04;DP=1083;ExcessHet=35.6159;FS=116.098;InbreedingCoeff=-0.7527;MLEAC=9,11;MLEAF=0.265,0.324;MQ=60.00;MQRankSum=0.00;QD=1.69;ReadPosRankSum=1.80;SOR=10.529	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:26,6,11:43:39:.:.:39,62,463,0,367,377	0	0	8	4
chr2	189755360	189755360	G	A	exonic	OSGEPL1	.	nonsynonymous SNV	OSGEPL1:NM_001354347:exon3:c.C422T:p.P141L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.996	D	0.000	N	1.000	D	4.075	H	0.02	T	0.348	D	0.576	D	0.653	4.002	20.5	3.84	0.850	7.525	12.231	0.554	0.160897807632	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.78490	D	0.003	0.83351	D	1.0	0.90584	D	0.985	0.76457	D	0.000111	0.50451	N	0.211209	1	0.81001	D	4.58	0.99205	H	0.02	0.62318	T	-8.93	0.98199	D	0.82	0.81559	0.348	0.88311	D	0.576	0.84685	D	10	0.9762387	0.97403	D	0.160898	0.84080	D	0.554	0.81601	0.905	0.97985	0.718356697609	0.71587	0.8815923215796544	0.88127	0.372525074531	0.38744	0.64415115118	0.59153	T	0.425	0.77636	T	0.161286	0.70319	D	-0.00610093	0.69939	D	0.998869597911835	0.95407	D	0.922808	0.72135	D	0.8715906	0.88988	0.82523525	0.89876	0.8715906	0.88989	0.82523525	0.89876	-10.557	0.77465	D	.	.	0.271	0.58340	B	.;.;.;.;.	.;.;.;.;.	5.390742	0.90310	31	0.99787549105102302	0.87396	0.97477	0.75001	D	AEFBI	0.796791	0.72382	D	0.862927056466765	0.89831	10.13639	0.74369562077445	0.85686	8.655004	0.996752665707242	0.34982	0.706298	0.61202	0	0.588066	0.40923	0	0.709663	0.75317	0	0.635551	0.53088	0	.	.	5.64	3.84	0.43422	7.615000	0.82207	11.806000	0.96793	0.654000	0.53741	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.1379:0.0:0.8621:0.0	12.231	0.53801	765	0.49814	Gcp-like domain|Gcp-like domain;.;Gcp-like domain|Gcp-like domain;Gcp-like domain|Gcp-like domain;Gcp-like domain|Gcp-like domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1981.98	38	chr2	189755360	.	G	A	1981.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.050e+00;DP=909;ExcessHet=0.0000;FS=1.741;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.76;ReadPosRankSum=-7.320e-01;SOR=0.567	GT:AD:DP:GQ:PL	0/1:119,84:203:99:1996,0,3205	20	0	1	0
chr2	191387347	191387347	G	A	exonic	MYO1B	.	nonsynonymous SNV	MYO1B:NM_001130158:exon17:c.G1678A:p.A560T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.39	T	0.642	P	0.069	B	0.000	N	1.000	D	0.055	N	-0.55	T	-0.940	T	0.128	T	0.336	2.822	15.40	4.83	1.426	4.156	10.955	0.123	0.0128127972974	.	.	1.647e-05	0	0.0002	0	0	0	0	0	1.94e-05	3	154602	rs772734702	3.42e-06	3.42e-06	2.722e-06	4.125e-06	4.472e-05	1e-06	7.3e-07	7.41e-06	2.77e-06	0	4.472e-05	0	0	0	0	8.993e-07	1.656e-05	1.159e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.348	0.15561	T	0.571	0.10354	T	0.434	0.40458	B	0.065	0.27757	B	0.000000	0.84330	N	0.054168	0.999951	0.52396	D	-0.055	0.04927	N	-0.55	0.71068	T	-0.98	0.25986	N	0.214	0.23884	-0.9401	0.42600	T	0.128	0.43585	T	10	0.14885399	0.28182	T	0.012813	0.31705	T	0.123	0.34020	0.324	0.30549	0.27064940482	0.26676	0.3895010266719323	0.38865	0.861398433647	0.68981	0.63896715641	0.58417	T	0.259141	0.63038	T	-0.173183	0.24755	T	-0.310695	0.43583	T	0.839299857616425	0.49270	D	0.680232	0.29438	T	0.1052478	0.24882	0.0901335	0.21117	0.1052478	0.24882	0.0901335	0.21116	-2.942	0.09569	T	.	.	0.073	0.06617	B	.;.;.;.	.;.;.;.	2.716308	0.35516	19.92	0.9774615289610189	0.35714	0.87491	0.47048	D	AEFDGBCIJ	0.792483	0.72077	D	-0.216433416837603	0.32459	1.830801	-0.0290958905044693	0.38407	2.26232	0.999999998382738	0.74766	0.75658	0.98901	0	0.588015	0.36545	0	0.724815	0.87919	0	0.656636	0.63459	0	.	.	5.7	4.83	0.61880	4.938000	0.63220	2.198000	0.31263	-0.135000	0.12811	1.000000	0.71638	0.992000	0.31684	0.992000	0.67800	0.1426:0.0:0.8574:0.0	10.955	0.46564	472	0.77968	.;Myosin head, motor domain|Myosin head, motor domain|Myosin head, motor domain|Class I myosin, motor domain;Myosin head, motor domain|Myosin head, motor domain|Myosin head, motor domain|Class I myosin, motor domain;Myosin head, motor domain|Myosin head, motor domain|Myosin head, motor domain|Class I myosin, motor domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1090.98	37	chr2	191387347	.	G	A	1090.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.28;DP=836;ExcessHet=0.0000;FS=5.740;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.87;ReadPosRankSum=0.174;SOR=0.921	GT:AD:DP:GQ:PL	0/1:76,47:123:99:1105,0,1845	20	0	1	0
chr2	197523648	197523648	T	C	exonic	HSPE1-MOB4;MOB4	.	nonsynonymous SNV	MOB4:NM_015387:exon2:c.T85C:p.S29P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.0	B	0.001	B	0.000	D	1.000	D	-1.67	N	.	.	-0.977	T	0.034	T	0.646	1.588	11.27	5.02	1.896	6.225	14.399	0.267	0.00959765325218	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.265e-05	0.0013	8.89e-05	9.642e-05	0.0001	7.932e-05	7.455e-05	9.055e-05	8.505e-05	3.135e-05	0	0.0001	0	0	0	0.0001	8.651e-05	8.389e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	0.579	0.08535	T	0.0	0.02946	B	0.001	0.04355	B	0.000000	0.84330	D	0.053972	0.999993	0.81001	D	-1.795	0.00292	N	.	.	.	1.18	0.01107	N	0.438	0.48042	-0.9766	0.35772	T	0.034	0.14813	T	9	0.10651526	0.19742	T	0.009598	0.25107	T	0.267	0.58126	0.341	0.33302	0.043077524339	0.03247	0.669975451478545	0.66935	1.34794577022	0.84014	0.778468906879	0.78697	T	0.055673	0.30073	T	0.0500577	0.58352	T	-0.165872	0.57820	T	0.811242938041687	0.47136	D	0.892711	0.63097	D	0.20700711	0.42893	0.20881961	0.45200	0.20700711	0.42893	0.20881961	0.45199	-0.876	0.00872	T	.	.	0.084	0.09820	B	.;.	.;.	3.297964	0.45264	22.1	0.8980768734361223	0.19119	0.98559	0.84088	D	AEFBI	0.838587	0.75609	D	-0.516315308048682	0.21553	1.144632	-0.200201322439165	0.31530	1.785231	0.986724794269661	0.31114	0.732398	0.92422	0	0.724815	0.89359	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	5.02	5.02	0.66742	5.652000	0.67632	7.608000	0.61804	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:0.0:1.0	14.399	0.66596	474	0.77851	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.5	5227.32	96	chr2	197523648	.	T	C	5227.32	.	AC=19;AF=0.500;AN=38;BaseQRankSum=-1.034e+00;DP=1714;ExcessHet=36.0830;FS=391.571;InbreedingCoeff=-0.9091;MLEAC=20;MLEAF=0.526;MQ=60.00;MQRankSum=0.00;QD=3.31;ReadPosRankSum=0.282;SOR=12.797	GT:AD:DP:GQ:PL	0/1:54,46:100:99:385,0,652	0	0	19	2
chr2	199323873	199323873	A	G	exonic	SATB2	.	nonsynonymous SNV	SATB2:NM_001172509:exon9:c.T1472C:p.I491T	Glass syndrome, Autosomal dominant	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08	T	1.0	D	0.999	D	0.000	D	1.000	D	2.045	M	0.18	T	-0.329	T	0.376	T	0.851	3.904	19.85	5.96	2.285	9.339	16.448	0.568	0.0425703827274	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	3.497e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	1	0.81001	D	1.795	0.47270	L	0.15	0.60734	T	-2.26	0.61865	N	0.955	0.97095	-0.3292	0.74156	T	0.376	0.73401	T	10	0.92720294	0.92066	D	0.04257	0.60531	D	0.568	0.82403	0.805	0.92301	0.635899028212	0.63291	0.9604697085027297	0.96032	2.46387727901	0.97434	0.890895605087	0.95371	D	0.479975	0.80916	T	0.261127	0.79633	D	0.137315	0.79369	D	0.908463060855865	0.56306	D	0.992126	0.98962	D	0.41215557	0.61566	0.54178786	0.73517	0.41215557	0.61566	0.54178786	0.73518	-15.097	0.96075	D	0.6709566999866549	0.74590	1.000	0.99219	P	.;.;.;.;.;.	.;.;.;.;.;.	5.024745	0.83534	28.1	0.99827830800469564	0.91026	0.99284	0.93939	D	AEFBI	0.927601	0.91051	D	0.846789532133977	0.88924	9.765369	0.849859941436155	0.93007	11.76693	0.999999953588536	0.74766	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.620846	0.47308	0	.	.	5.96	5.96	0.96695	9.325000	0.96006	11.188000	0.88560	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	1.0:0.0:0.0:0.0	16.448	0.83801	844	0.36711	CUT domain|CUT domain|CUT domain;.;CUT domain|CUT domain|CUT domain;CUT domain|CUT domain|CUT domain;.;CUT domain|CUT domain|CUT domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.04762	76.23	34	chr2	199323873	.	A	G	76.23	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-5.278e+00;DP=972;ExcessHet=0.1072;FS=179.814;InbreedingCoeff=-0.0476;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=0.25;ReadPosRankSum=1.54;SOR=7.864	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:155,34:189:87:.:.:87,0,2970	19	0	2	0
chr2	199819527	199819527	-	A	exonic	FTCDNL1	.	stoploss	FTCDNL1:NM_001350853:exon4:c.441dupT:p.*148delinsLNLRSPL*,	.	.	465	530	157	5	365	532	0.136104	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4524	1928.6	30	chr2	199819526	.	TA	T,TAA,TAAA	1928.6	.	AC=4,14,2;AF=0.095,0.333,0.048;AN=42;BaseQRankSum=0.562;DP=865;ExcessHet=26.8223;FS=1.986;InbreedingCoeff=-0.6840;MLEAC=3,15,2;MLEAF=0.071,0.357,0.048;MQ=60.00;MQRankSum=0.00;QD=2.80;ReadPosRankSum=-2.030e-01;SOR=0.840	GT:AD:DP:GQ:PL	0/2:21,5,6,0:32:28:43,28,509,0,343,466,126,504,469,610	2	0	4	0
chr2	199819527	199819527	-	AA	exonic	FTCDNL1	.	stoploss	FTCDNL1:NM_001350853:exon4:c.441_442insTT:p.*148delinsFKLEVPFMSHTLLMQEEL*,	.	.	465	530	157	5	365	532	0.136104	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4524	1928.6	30	chr2	199819526	.	TA	T,TAA,TAAA	1928.6	.	AC=4,14,2;AF=0.095,0.333,0.048;AN=42;BaseQRankSum=0.562;DP=865;ExcessHet=26.8223;FS=1.986;InbreedingCoeff=-0.6840;MLEAC=3,15,2;MLEAF=0.071,0.357,0.048;MQ=60.00;MQRankSum=0.00;QD=2.80;ReadPosRankSum=-2.030e-01;SOR=0.840	GT:AD:DP:GQ:PL	0/2:21,5,6,0:32:28:43,28,509,0,343,466,126,504,469,610	2	0	4	0
chr2	215326838	215326838	C	A	exonic	ATIC	.	nonsynonymous SNV	ATIC:NM_004044:exon7:c.C548A:p.A183E,	AICA-ribosiduria due to ATIC deficiency, Autosomal recessive	.	0	1514	8	0	0	8	0.00263505	.	.	626124	not_specified|AICA-ribosiduria|not_provided	MedGen:CN169374|MONDO:MONDO:0012099,MedGen:C1837530,OMIM:608688,Orphanet:250977|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0	D	1.0	D	0.996	D	0.000	D	1.000	D	4.17	H	-2.04	D	0.913	D	0.842	D	0.916	4.012	20.6	4.98	2.776	5.879	14.088	0.807	0.150357449039	.	.	4.118e-05	0	0	0	0	0	0	0.0003	3.23e-05	5	154602	rs761526509	2.052e-05	2.121e-05	1.225e-05	2.888e-05	0.0005	1.456e-05	1.264e-05	0.0002	0.0001	0	0	0	0	0	0.0005	2.698e-06	3.312e-05	0.0003	3.289e-05	3.284e-05	5.143e-05	1.347e-05	0.0004	1.262e-05	7.99e-06	7.304e-05	3.034e-05	0	0	0.0002	0	0	0	0	0	0	0.0004	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.996	0.84481	D	0.000001	0.84330	D	0.095649	1	0.81001	D	4.56	0.99153	H	-2.04	0.85703	D	-3.85	0.77470	D	0.959	0.96984	0.913	0.95862	D	0.842	0.94736	D	10	0.96437967	0.95893	D	0.150357	0.83205	D	0.807	0.93738	0.898	0.97685	0.888681746581	0.88758	0.9286232411049514	0.92840	0.371772515195	0.38677	0.784096539021	0.79546	T	0.778806	0.94142	D	0.238566	0.77524	D	0.405231	0.92283	D	0.993683695793152	0.84585	D	0.979435	0.93081	D	0.9780326	0.98956	0.97068566	0.99494	0.9780326	0.98956	0.97068566	0.99495	-10.544	0.77162	D	0.6226121154954786	0.69113	0.609	0.76063	P	.;.;.	.;.;.	5.080511	0.84782	28.4	0.99284000632848757	0.58008	0.97486	0.75060	D	AEFBCI	0.777974	0.71061	D	0.796513834400809	0.85886	8.712509	0.621582110174223	0.76509	6.504297	0.99999997842518	0.74766	0.706548	0.73137	0	0.697927	0.68747	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.86	4.98	0.65679	6.076000	0.70901	5.824000	0.50107	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.989000	0.64315	0.0:0.9276:0.0:0.0724	14.088	0.64499	741	0.52966	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1314.98	36	chr2	215326838	.	C	A	1314.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-8.550e-01;DP=913;ExcessHet=0.0000;FS=2.456;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.64;ReadPosRankSum=-8.080e-01;SOR=1.000	GT:AD:DP:GQ:PL	0/1:59,54:113:99:1329,0,1542	20	0	1	0
chr2	229976295	229976295	C	T	exonic	FBXO36	.	nonsynonymous SNV	FBXO36:NM_174899:exon2:c.C151T:p.P51S,	.	.	454	1042	25	1	0	27	0.0127901	.	.	2819022	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.01	D	1.0	D	0.996	D	0.000	D	0.999	D	2.74	M	0.49	T	0.403	D	0.633	D	0.75	4.435	23.6	5.74	2.740	4.534	16.893	0.507	0.0700355220613	0.0057	0.00299521	0.0048	0.0012	0.0049	0	0.0008	0.0069	0.0055	0.0025	0.0047218	730	154602	rs61753284	0.0060	0.0060	0.0060	0.0060	0.0255	0.0059	0.0058	0.0221	0.0209	0.0017	0.0045	0.0092	2.524e-05	0.0012	0.0255	0.0067	0.0056	0.0028	0.0048	0.0048	0.0051	0.0044	0.0073	0.0045	0.0044	0.0067	0.0065	0.0012	0.0384	0.0041	0.0121	0	0.0011	0.0170	0.0073	0.0090	0.0010	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.996	0.84481	D	0.000000	0.84330	D	0.000000	0.999049	0.45943	D	2.76	0.80626	M	-1.45	0.80899	T	-6.89	0.93366	D	0.69	0.77789	0.403	0.89145	D	0.633	0.87159	D	10	0.0110967755	0.00244	T	0.070036	0.70893	D	0.507	0.78786	.	.	0.940739262602	0.94012	0.7733006247395037	0.77280	0.330663428788	0.35144	0.411693423986	0.26690	T	0.351554	0.71911	T	-0.0931571	0.37555	T	0.0971355	0.76718	D	0.0250041670815485	0.01273	T	0.822518	0.51368	T	0.84192264	0.86746	0.7851982	0.87348	0.84192264	0.86747	0.7851982	0.87349	-2.929	0.12751	T	.	.	0.875	0.83490	P	.;.;.	.;.;.	4.395852	0.67881	25.2	0.99910399207564027	0.98022	0.88759	0.48842	D	AEFBI	0.498609	0.53264	N	0.819968735157683	0.87339	9.183527	0.782799039667506	0.88574	9.633005	0.98857738015449	0.31561	0.615465	0.37627	0	0.588066	0.40923	0	0.658983	0.55881	0	0.645948	0.59608	0	.	.	5.74	5.74	0.90070	4.814000	0.62318	6.935000	0.56972	0.593000	0.32247	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:1.0:0.0:0.0	16.893	0.85961	963	0.08280	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	615.98	34	chr2	229976295	.	C	T	615.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.200e-01;DP=759;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.62;ReadPosRankSum=1.35;SOR=0.618	GT:AD:DP:GQ:PL	0/1:36,28:64:99:630,0,920	20	0	1	0
chr2	232847516	232847519	CACA	0	exonic	GIGYF2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4286	43047.11	33	chr2	232847516	.	CACA	C,*	43047.11	.	AC=17,2;AF=0.405,0.048;AN=42;BaseQRankSum=-2.081e+00;DP=2385;ExcessHet=2.1081;FS=4.230;InbreedingCoeff=-0.0572;MLEAC=17,2;MLEAF=0.405,0.048;MQ=60.00;MQRankSum=0.00;QD=21.31;ReadPosRankSum=0.139;SOR=0.994	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:71,72,0:143:99:0|1:232847516_CACA_C:2752,0,2609,2965,2826,5791:232847516	6	3	10	0
chr2	232847517	232847517	A	0	exonic	GIGYF2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4524	2757.23	33	chr2	232847517	.	A	*,AG	2757.23	.	AC=19,1;AF=0.452,0.024;AN=42;BaseQRankSum=-8.110e-01;DP=2381;ExcessHet=1.0911;FS=4.374;InbreedingCoeff=0.0455;MLEAC=19,1;MLEAF=0.452,0.024;MQ=60.00;MQRankSum=0.00;QD=1.42;ReadPosRankSum=-1.791e+00;SOR=1.006	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:71,72,0:143:99:0|1:232847516_CACA_C:2752,0,2609,2965,2826,5791:232847516	6	4	10	0
chr2	233842020	233842020	C	T	exonic	HJURP	.	nonsynonymous SNV	HJURP:NM_001282963:exon5:c.G505A:p.D169N	.	.	433	1078	11	0	0	11	0.00507614	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	0.335	B	0.15	B	0.134	N	1.000	N	1.04	L	2.89	T	-1.015	T	0.078	T	0.078	1.695	11.63	3.34	1.374	0.179	8.253	0.022	0.00565089478322	.	.	0.0006	0	0	0	0	0.0001	0.0022	0.0039	0.0004851	75	154602	rs202022630	0.0003	0.0003	0.0002	0.0004	0.0039	0.0003	0.0003	0.0035	0.0034	0	8.944e-05	0	0	0	0.0012	7.824e-05	0.0003	0.0039	0.0002	0.0002	0.0001	0.0002	0.0012	0.0001	9.695e-05	0.0005	0.0004	2.405e-05	0	6.536e-05	0	0.0002	0	0.0034	0.0002	0.0005	0.0012	0.203	0.26192	T	0.225	0.26467	T	0.335	0.33330	B	0.15	0.34161	B	0.133832	0.18537	N	0.498768	1	0.08975	N	1.185	0.30054	L	2.8	0.39990	T	-2.29	0.56144	N	0.174	0.26717	-1.0153	0.25240	T	0.078	0.31072	T	10	0.006063074	0.00136	T	0.005651	0.14621	T	0.022	0.04323	0.387	0.40788	0.254761474806	0.25079	0.1414699334388066	0.14069	0.106751890607	0.12062	0.339848071337	0.16416	T	0.025799	0.37562	T	-0.612443	0.00122	T	-0.653028	0.08744	T	0.030071836145738	0.02001	T	0.69773	0.31322	T	0.030974463	0.02854	0.039896492	0.04187	0.030974463	0.02853	0.039896492	0.04186	-4.47	0.30494	T	.	.	0.108	0.33778	B	.;.;.;.;.	.;.;.;.;.	1.364422	0.17740	13.34	0.9890937913749942	0.48345	0.13505	0.17894	N	AEFDBCI	0.062198	0.11941	N	-0.621831547377011	0.18289	0.9483346	-0.677775444672102	0.17516	0.9317817	0.999964235869194	0.48965	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.711	0.71501	0	.	.	4.22	3.34	0.37357	0.183000	0.16729	0.834000	0.21977	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.058000	0.15825	0.0:0.8935:0.0:0.1065	8.253	0.30900	889	0.27310	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1746.98	106	chr2	233842020	.	C	T	1746.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.083;DP=2015;ExcessHet=0.0000;FS=8.013;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.40;ReadPosRankSum=-1.580e+00;SOR=0.838	GT:AD:DP:GQ:PL	0/1:99,69:168:99:1761,0,2584	20	0	1	0
chr2	236123922	236123922	G	A	exonic	AGAP1	.	nonsynonymous SNV	AGAP1:NM_014914:exon17:c.G2215A:p.G739R	.	.	425	1086	10	1	0	12	0.00549451	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.999	D	0.941	D	0.000	D	1.000	D	1.61	L	0.66	T	-0.571	T	0.298	T	0.875	3.163	16.58	4.3	1.950	9.570	16.770	0.394	0.202118369348	7.7e-05	.	0.0002	0	0	0	0	6.07e-05	0.0011	0.0015	0.0001876	29	154602	rs150946814	0.0002	0.0002	6.812e-05	0.0002	0.0020	0.0001	0.0001	0.0018	0.0017	2.991e-05	0	0	0	3.753e-05	0.0002	3.958e-05	3.317e-05	0.0020	7.226e-05	7.219e-05	5.141e-05	9.406e-05	0.0015	3.97e-05	3.127e-05	0.0007	0.0005	2.408e-05	0	0	0	0.0002	9.425e-05	0	1.47e-05	0	0.0015	0.09	0.53900	T	0.167	0.39645	T	0.999	0.77913	D	0.941	0.67658	D	0.000000	0.84330	D	0.000000	1	0.81001	D	1.7	0.43825	L	0.66	0.52416	T	-5.45	0.85994	D	0.848	0.85872	-0.5713	0.65963	T	0.298	0.66914	T	10	0.28795072	0.46377	T	0.202118	0.86803	D	0.415	0.72555	0.846	0.94965	0.826420395863	0.82477	0.6450951582612725	0.64444	1.14508194576	0.79051	0.827396035194	0.86163	D	0.196196	0.55251	T	-0.0771889	0.40171	T	0.0973326	0.76731	D	0.560399115085602	0.34870	D	0.870213	0.57527	D	0.7864547	0.83053	0.7327346	0.84206	0.7864547	0.83054	0.7327346	0.84207	-12.05	0.85093	D	.	.	0.940	0.85917	P	.;.;.;.;.	.;.;.;.;.	6.285340	0.94945	34	0.99822356038410287	0.90502	0.99174	0.92320	D	AEFDBI	0.932109	0.92195	D	0.290524185728432	0.55668	3.730798	0.294421213854364	0.55214	3.684559	0.999999999192077	0.74766	0.554377	0.28877	0	0.59043	0.45803	0	0.566861	0.19136	0	0.567892	0.33627	0	.	.	4.3	4.3	0.50540	9.698000	0.97948	9.696000	0.81288	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.041000	0.14368	0.0:0.0:1.0:0.0	16.770	0.85396	988	0.01987	.;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	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2467.98	98	chr2	236123922	.	G	A	2467.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.91;DP=1439;ExcessHet=0.0000;FS=1.258;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.62;ReadPosRankSum=-1.900e-02;SOR=0.686	GT:AD:DP:GQ:PL	0/1:69,89:158:99:2482,0,1733	20	0	1	0
chr2	236580968	236580968	T	C	exonic	ACKR3	.	nonsynonymous SNV	ACKR3:NM_020311:exon2:c.T503C:p.V168A,	.	.	427	1084	11	0	0	11	0.00504819	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.973	D	0.813	P	0.000	D	1.000	D	1.83	L	-0.81	T	-0.248	T	0.432	T	0.386	3.941	20.1	3.31	0.434	4.984	10.025	0.534	0.0359962335538	0.0005	.	0.0004	0	8.637e-05	0	0	0.0005	0.0011	0.0012	0.0004075	63	154602	rs142678508	0.0003	0.0003	0.0003	0.0004	0.0019	0.0003	0.0003	0.0017	0.0016	2.987e-05	4.472e-05	0	2.519e-05	1.873e-05	0.0002	0.0003	0.0002	0.0019	0.0002	0.0002	0.0002	0.0002	0.0008	0.0002	0.0001	0.0003	0.0002	0	0	0.0002	0	0	0	0	0.0004	0.0005	0.0008	0.005	0.63226	D	0.039	0.53426	D	0.973	0.57599	D	0.813	0.58748	P	0.000000	0.84330	D	0.000000	0.99997	0.53665	D	2.495	0.72670	M	-0.81	0.73949	T	-3.63	0.69714	D	0.35	0.39153	-0.2479	0.76416	T	0.432	0.77348	T	10	0.15591606	0.29376	T	0.035996	0.56708	D	0.534	0.80426	.	.	0.822862055848	0.82118	0.8055548524677405	0.80510	0.582402522763	0.53999	0.508637666702	0.40032	T	0.059652	0.71582	T	-0.259622	0.12945	T	-0.181084	0.56423	T	0.271632417765217	0.23817	T	0.69863	0.30863	T	0.4234102	0.62318	0.47074416	0.69311	0.4234102	0.62319	0.47074416	0.69311	-6.39	0.49432	T	.	.	0.551	0.66846	A	.;.	.;.	4.013158	0.59222	24.1	0.99723390853820271	0.82195	0.88203	0.48027	D	AEFGBCI	0.444419	0.50132	N	0.434426253139885	0.63326	4.564141	0.408300462177277	0.62081	4.417714	0.999935672079718	0.46732	0.706548	0.73137	0	0.697927	0.68747	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	5.7	3.31	0.37025	4.895000	0.62904	4.959000	0.46330	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.954000	0.50415	0.0:0.1365:0.0:0.8635	10.025	0.41238	981	0.03995	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.04762	10054.11	34	chr2	236580968	.	T	C	10054.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-1.221e+00;DP=1462;ExcessHet=0.1072;FS=1.744;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=13.55;ReadPosRankSum=0.331;SOR=0.573	GT:AD:DP:GQ:PL	0/1:182,216:398:99:5401,0,4886	19	0	2	0
chr2	241317537	241317537	T	-	exonic	SEPTIN2	.	frameshift deletion	SEPTIN2:NM_001349287:exon3:c.112delT:p.C43Vfs*23,	.	.	3	4	19	0	200	219	0.703704	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	9867.71	78	chr2	241317535	.	ATT	A,AT	9867.71	.	AC=2,20;AF=0.048,0.476;AN=42;BaseQRankSum=0.729;DP=1727;ExcessHet=43.6797;FS=0.000;InbreedingCoeff=-0.9091;MLEAC=1,20;MLEAF=0.024,0.476;MQ=60.00;MQRankSum=0.00;QD=7.46;ReadPosRankSum=0.074;SOR=0.692	GT:AD:DP:GQ:PL	0/2:34,7,19:65:99:375,203,1213,0,567,602	0	0	1	0
chr2	241373241	241373241	A	G	exonic	FARP2	.	nonsynonymous SNV	FARP2:NM_001282983:exon2:c.A134G:p.H45R	.	.	427	1047	45	3	0	51	0.0237762	.	.	719777	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.59	T	0.001	B	0.002	B	0.855	N	1.000	N	0.51	N	-0.8	T	-0.777	T	0.334	T	0.342	0.765	8.045	-7.7	-0.811	-0.085	10.763	0.174	.	0.0007	0.00359425	0.0034	9.697e-05	0.0009	0.0001	0.0002	0.0013	0.0101	0.0202	0.0028913	447	154602	rs150312458	0.0015	0.0016	0.0010	0.0021	0.0190	0.0015	0.0015	0.0182	0.0179	6.429e-05	0.0006	0.0040	2.674e-05	3.818e-05	0.0100	0.0003	0.0020	0.0190	0.0013	0.0013	0.0010	0.0016	0.0197	0.0011	0.0011	0.0165	0.0153	0.0001	0	0.0007	0.0046	0	0.0002	0.0068	0.0007	0.0047	0.0197	0.316	0.13744	T	0.476	0.13832	T	0.001	0.07471	B	0.001	0.06944	B	0.854686	0.08938	N	0.936529	1	0.08975	N	0.935	0.23595	L	-0.8	0.87591	T	-1.46	0.49684	N	0.218	0.24385	-0.7772	0.56459	T	0.334	0.70101	T	10	0.004382789	0.00089	T	.	.	.	0.174	0.44019	.	.	0.508223314113	0.50461	0.17052013720467224	0.16972	0.0643189233085	0.07168	0.276633054018	0.07027	T	0.053007	0.29322	T	-0.345805	0.04996	T	-0.254565	0.49365	T	0.00849698532556017	0.00103	T	0.549445	0.19458	T	0.025778024	0.01554	0.043584656	0.05456	0.025778024	0.01554	0.043584656	0.05456	-2.43	0.05320	T	.	.	0.073	0.05188	B	.;.;.;.;.	.;.;.;.;.	-0.258881	0.02802	0.385	0.72898659313836633	0.10135	0.07713	0.13715	N	AEFGBHCI	0.092076	0.18644	N	-1.23713783796239	0.04472	0.2018995	-1.27425825751002	0.04781	0.2263567	0.999999937993156	0.74766	0.732398	0.92422	0	0.658105	0.61773	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	5.3	-7.7	0.01120	-0.086000	0.11198	-0.494000	0.08842	0.751000	0.87719	0.000000	0.06391	0.000000	0.08366	0.766000	0.36367	0.3729:0.4995:0.1276:0.0	10.763	0.45474	988	0.01987	FERM domain|Band 4.1 domain;.;.;FERM domain;FERM domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.07143	5921.68	46	chr2	241373241	.	A	G	5921.68	.	AC=3;AF=0.071;AN=42;BaseQRankSum=1.73;DP=1299;ExcessHet=0.3300;FS=0.530;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=10.99;ReadPosRankSum=0.055;SOR=0.711	GT:AD:DP:GQ:PL	0/1:99,85:184:99:2053,0,2353	18	0	3	0
chr3	9384614	9384614	C	G	exonic	THUMPD3	.	nonsynonymous SNV	THUMPD3:NM_001114092:exon10:c.C1450G:p.R484G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.999	D	0.99	D	0.000	D	1.000	D	2.16	M	0.14	T	-0.623	T	0.269	T	0.887	2.584	14.60	3.79	1.424	3.796	10.083	0.272	0.0727981923396	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.841e-07	6.84e-07	1.361e-06	0	8.993e-07	0	0	.	.	0	0	0	0	0	0	8.993e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.007	0.69154	D	0.999	0.77913	D	0.99	0.78936	D	0.000000	0.84330	D	0.048883	0.999975	0.53665	D	2.79	0.81396	M	0.14	0.60854	T	-5.89	0.88767	D	0.904	0.96302	-0.6226	0.63880	T	0.269	0.64045	T	10	0.7823654	0.77960	D	0.072798	0.71626	D	0.484	0.77335	0.53	0.63707	0.770817927371	0.76872	0.8827661370152379	0.88244	0.372105454378	0.38710	0.517695367336	0.41302	T	0.131445	0.46095	T	0.299017	0.82888	D	0.191741	0.82667	D	0.993509709835052	0.84328	D	0.754325	0.37688	T	0.8452553	0.86987	0.63234425	0.78547	0.8452553	0.86989	0.63234425	0.78548	-13.728	0.92139	D	.	.	0.968	0.89449	P	.;.;.	.;.;.	4.273687	0.65043	24.8	0.99725565300764951	0.82406	0.92668	0.56256	D	ALL	0.736041	0.68167	D	0.117540734028745	0.47281	2.956032	0.100941168500492	0.44596	2.738376	0.999999998946635	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.67	3.79	0.42757	3.823000	0.55415	5.730000	0.49516	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.537000	0.29868	0.1369:0.7914:0.0:0.0717	10.083	0.41576	624	0.65661	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1240.98	36	chr3	9384614	.	C	G	1240.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.79;DP=905;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.89;ReadPosRankSum=-3.300e-01;SOR=0.759	GT:AD:DP:GQ:PL	0/1:66,48:114:99:1255,0,1592	20	0	1	0
chr3	14158883	14158883	G	A	exonic	XPC	.	nonsynonymous SNV	XPC:NM_001354726:exon8:c.C421T:p.P141S	Xeroderma pigmentosum, group C, Autosomal recessive	YES	1	1516	4	1	0	6	0.00197498	.	.	139226	not_provided|Xeroderma_pigmentosum|Xeroderma_pigmentosum,_group_C|not_specified	MedGen:C3661900|MONDO:MONDO:0019600,MedGen:C0043346,Orphanet:910|MONDO:MONDO:0010211,MedGen:C2752147,OMIM:278720,Orphanet:910|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	1	T	0.005	B	0.001	B	0.083	N	1.000	N	0.41	N	1.37	T	-1.044	T	0.039	T	0.231	-1.402	0.023	-3.43	-0.486	-0.104	2.394	0.015	0.00193231407746	.	0.00179712	0.0011	0	8.648e-05	0	0	0	0.0011	0.0077	0.0009185	142	154602	rs200338014	0.0005	0.0005	0.0003	0.0007	0.0078	0.0005	0.0004	0.0073	0.0071	2.987e-05	0	0	0	0	0.0003	2.698e-06	0.0003	0.0078	0.0003	0.0003	0.0002	0.0003	0.0081	0.0002	0.0002	0.0061	0.0054	0	0	0	0	0	0	0	0	0.0005	0.0081	0.787	0.03227	T	1.0	0.01155	T	0.005	0.12996	B	0.001	0.04355	B	0.082739	0.02372	N	1.773620	1	0.08975	N	0.4	0.12274	N	1.35	0.34648	T	-0.08	0.08187	N	0.055	0.02658	-1.0437	0.16207	T	0.039	0.16849	T	10	0.0026124418	0.00040	T	0.001932	0.03430	T	0.015	0.02232	0.386	0.40624	0.0297737177859	0.01360	0.22477308295976878	0.22392	0.119809200928	0.13497	0.241421490908	0.02919	T	0.051342	0.28851	T	-0.58392	0.00182	T	-0.606269	0.12291	T	0.00780555975000651	0.00091	T	0.591441	0.21800	T	0.01940693	0.00470	0.024562404	0.00478	0.01940693	0.00470	0.024562404	0.00478	-2.717	0.07447	T	0.16257424392448722	0.19979	0.071	0.04002	B	.	.	0.158344	0.05491	1.958	0.2189063025523218	0.00855	0.05638	0.11549	N	AEFBI	0.025928	0.01857	N	-1.53395475932852	0.01631	0.07129957	-1.53106289329479	0.02109	0.09650543	0.939616099690286	0.27395	0.706548	0.73137	0	0.697927	0.68747	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.89	-3.43	0.04507	0.035000	0.13685	0.241000	0.16308	-0.633000	0.04490	0.317000	0.25476	0.005000	0.19230	0.577000	0.30821	0.4767:0.103:0.2605:0.1598	2.394	0.04117	789	0.46346	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	451.98	38	chr3	14158883	.	G	A	451.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.162;DP=775;ExcessHet=0.0000;FS=1.104;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.69;ReadPosRankSum=0.546;SOR=0.974	GT:AD:DP:GQ:PL	0/1:32,20:52:99:466,0,827	20	0	1	0
chr3	14668100	14668100	A	G	exonic	CCDC174	.	nonsynonymous SNV	CCDC174:NM_016474:exon9:c.A871G:p.I291V,	Hypotonia, infantile, with psychomotor retardation, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.0	B	0.001	B	0.179	N	1.000	N	0.515	N	0.96	T	-0.974	T	0.035	T	0.073	1.029	9.204	-5.9	-0.400	0.360	2.518	0.022	0.00586458865686	.	0.000199681	2.478e-05	0	0	0	0	0	0	0.0002	3.88e-05	6	154602	rs542404527	8.231e-06	8.209e-06	6.825e-06	9.651e-06	4.687e-05	4.39e-06	3.47e-06	1.594e-05	9.37e-06	0	0	0	0	0	0	6.304e-06	1.662e-05	4.687e-05	6.563e-06	6.561e-06	0	1.342e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.001	0.04355	B	0.178575	0.17167	N	0.643718	1	0.19853	N	0.955	0.23872	L	0.96	0.42888	T	0.12	0.05604	N	0.165	0.17416	-0.9737	0.36409	T	0.035	0.14900	T	10	0.016488254	0.00348	T	0.005865	0.15251	T	0.022	0.04323	0.2	0.11384	0.178374595973	0.17440	0.05917337768193995	0.05857	0.0755267479925	0.08473	0.322551041842	0.13808	T	0.039973	0.25372	T	-0.471606	0.00830	T	-0.7097	0.05311	T	0.00749472343005794	0.00087	T	0.681532	0.29028	T	0.012421252	0.00033	0.024499144	0.00471	0.012421252	0.00033	0.024499144	0.00471	-2.009	0.03215	T	.	.	0.061	0.01075	B	.	.	0.052255	0.04656	1.308	0.56184467853478037	0.05498	0.28931	0.23687	N	AEFBI	0.063024	0.12152	N	-1.31129969301408	0.03545	0.1585363	-1.25706391547974	0.05027	0.2385723	0.144210059412658	0.17329	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.76	-5.9	0.02087	0.227000	0.17575	-0.174000	0.11198	-0.107000	0.15377	0.356000	0.25809	0.000000	0.08366	0.995000	0.73285	0.3551:0.2913:0.2584:0.0952	2.518	0.04389	929	0.16858	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	1	0	0	0	0.02381	465.98	33	chr3	14668100	.	A	G	465.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.004e+00;DP=719;ExcessHet=0.0000;FS=1.194;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.59;ReadPosRankSum=-1.597e+00;SOR=0.407	GT:AD:DP:GQ:PL	0/1:22,22:44:99:480,0,536	20	0	1	0
chr3	15003967	15003967	C	G	exonic	NR2C2	.	nonsynonymous SNV	NR2C2:NM_001291694:exon2:c.C53G:p.A18G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.0	B	0.0	B	0.003	N	0.870	D	0.69	N	-3.18	D	0.217	D	0.665	D	0.329	3.392	17.45	5.31	2.493	4.693	18.577	0.348	0.0295345532005	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.189e-05	0.0009	5.651e-05	4.724e-05	5.923e-05	4.24e-05	3.867e-05	4.761e-05	4.337e-05	3.02e-05	0	3.857e-05	2.528e-05	0	0	5.923e-05	6.69e-05	3.495e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.124	0.42199	T	0.088	0.63109	T	0.0	0.02946	B	0.0	0.01387	B	0.002953	0.35672	N	0.313188	0.869993	0.35545	D	-0.14	0.04484	N	-3.3	0.93787	D	-1.5	0.68764	N	0.324	0.36464	0.217	0.86200	D	0.665	0.88392	D	10	0.1999422	0.36022	T	0.029535	0.52028	D	0.348	0.66956	0.082	0.00727	0.202312658747	0.19855	0.13027040555393532	0.12952	0.343984992891	0.36322	0.632090747356	0.57442	T	0.163841	0.50907	T	0.0950387	0.63753	D	-0.10126	0.63300	T	0.647998213768005	0.38376	D	0.841416	0.51891	T	0.14685042	0.33598	0.112335265	0.27105	0.14685042	0.33597	0.112335265	0.27104	-2.954	0.13971	T	.	.	0.074	0.62122	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	3.397345	0.47066	22.4	0.98891559513655258	0.48019	0.95884	0.66568	D	AEFBI	0.571784	0.57563	D	-0.0193053131226323	0.40981	2.443305	0.183621717806624	0.48950	3.104215	0.999976298748313	0.50053	0.736574	0.97449	0	0.724815	0.89359	0	0.732669	0.93749	0	0.714379	0.83352	0	.	.	5.31	5.31	0.75063	4.784000	0.62103	7.643000	0.63297	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:1.0:0.0:0.0	18.577	0.91115	588	0.69043	.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.3	6188.68	230	chr3	15003967	.	C	G	6188.68	.	AC=12;AF=0.300;AN=40;BaseQRankSum=-4.434e+00;DP=4026;ExcessHet=9.6308;FS=254.962;InbreedingCoeff=-0.4237;MLEAC=12;MLEAF=0.300;MQ=60.00;MQRankSum=0.00;QD=2.20;ReadPosRankSum=2.28;SOR=13.530	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:178,78:258:99:.:.:841,0,5165	8	0	12	1
chr3	38109513	38109513	C	A	exonic	DLEC1	.	nonsynonymous SNV	DLEC1:NM_001321153:exon22:c.C3211A:p.Q1071K	Esophageal cancer, Autosomal dominant;Lung cancer, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.95	T	0.053	B	0.019	B	0.174	N	0.995	N	0.88	L	3.92	T	-0.958	T	0.011	T	0.072	-0.049	3.766	3.14	1.157	1.718	13.819	0.049	0.00390527420198	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	0.73	0.05165	T	0.021	0.18474	B	0.012	0.16012	B	0.174173	0.17287	N	0.551536	0.995295	0.23326	N	1.01	0.25309	L	3.69	0.04114	T	0.6	0.03090	N	0.077	0.05162	-0.9581	0.39534	T	0.011	0.04088	T	10	0.055529058	0.06084	T	0.003905	0.09180	T	0.049	0.13647	0.454	0.51775	0.393927044628	0.39002	0.45866332059907416	0.45784	0.133755554543	0.15066	0.192900776863	0.00280	T	0.00553	0.04982	T	-0.347419	0.04891	T	-0.73682	0.04026	T	0.0577609166502953	0.06811	T	0.654235	0.26451	T	0.08297998	0.19140	0.07852713	0.17598	0.08297998	0.19140	0.07852713	0.17597	-4.471	0.30507	T	.	.	0.077	0.06525	B	.;.	.;.	1.293043	0.16940	12.86	0.76942930132240184	0.11672	0.45708	0.27598	N	AEFDBI	0.067414	0.13251	N	-0.609970861982123	0.18645	0.9695897	-0.417668265353115	0.24479	1.340656	0.985057769843436	0.30820	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	5.2	3.14	0.35196	1.163000	0.31408	2.795000	0.34819	-0.233000	0.07663	0.693000	0.28559	0.753000	0.26565	0.651000	0.32720	0.3551:0.6449:0.0:0.0	13.819	0.62798	557	0.71576	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1317.98	33	chr3	38109513	.	C	A	1317.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.68;DP=835;ExcessHet=0.0000;FS=1.367;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.62;ReadPosRankSum=-1.122e+00;SOR=0.830	GT:AD:DP:GQ:PL	0/1:82,55:137:99:1332,0,1969	20	0	1	0
chr3	38126263	38126263	G	T	exonic	ACAA1	.	nonsynonymous SNV	ACAA1:NM_001607:exon9:c.C896A:p.P299H,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.946	P	0.696	P	0.000	D	1.000	D	2.385	M	-3.04	D	0.646	D	0.816	D	0.621	4.485	24.0	4.47	1.247	9.466	13.943	0.636	0.256329730355	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.002	0.79402	D	0.904	0.53363	P	0.65	0.54017	P	0.000000	0.84330	D	0.000000	1	0.81001	D	2.295	0.65404	M	-3.04	0.92357	D	-7.94	0.96294	D	0.736	0.73645	0.646	0.92487	D	0.816	0.93816	D	10	0.8276622	0.81939	D	0.25633	0.89325	D	0.793	0.93188	0.458	0.52427	0.941738089817	0.94112	0.7760704479852467	0.77557	1.10480771897	0.77858	0.714927196503	0.69308	T	0.446858	0.78934	T	0.236345	0.77315	D	0.101717	0.77020	D	0.994072735309601	0.85163	D	0.981385	0.94382	D	0.8917105	0.90654	0.79614013	0.88028	0.8917105	0.90655	0.79614013	0.88029	-11.633	0.83017	D	.	.	0.248	0.48272	B	.;.	.;.	5.056307	0.84244	28.3	0.99622647155854815	0.75533	0.97671	0.76304	D	AEFDBCI	0.942913	0.94809	D	0.481386542325793	0.66002	4.894295	0.516764575384931	0.69119	5.314876	0.999999999857887	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.34	4.47	0.53770	9.598000	0.97461	9.667000	0.81209	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0732:0.0:0.9268:0.0	13.943	0.63573	553	0.71930	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2580.98	34	chr3	38126263	.	G	T	2580.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.120;DP=881;ExcessHet=0.0000;FS=1.285;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.13;ReadPosRankSum=-2.402e+00;SOR=0.808	GT:AD:DP:GQ:PL	0/1:57,103:160:99:2595,0,1259	20	0	1	0
chr3	40462038	40462038	-	CTGCTG	exonic	RPL14	.	nonframeshift insertion	RPL14:NM_001034996:exon6:c.454_455insCTGCTG:p.A159_K160insAA	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6429	48025.3	76	chr3	40462029	.	ACTGCTGCTG	ACTGCTGCTGCTGCTG,ACTGCTGCTGCTGCTGCTGCTG,ACTGCTGCTGCTGCTGCTG,ACTGCTGCTGCTGCTGCTGCTGCTG,A,ACTGCTGCTGCTGCTGCTGCTGCTGCTG	48025.3	.	AC=12,3,11,8,1,1;AF=0.286,0.071,0.262,0.190,0.024,0.024;AN=42;BaseQRankSum=0.629;DP=1847;ExcessHet=0.1217;FS=0.843;InbreedingCoeff=0.2222;MLEAC=12,3,11,8,1,1;MLEAF=0.286,0.071,0.262,0.190,0.024,0.024;MQ=58.28;MQRankSum=-6.800e-01;QD=28.71;ReadPosRankSum=-7.900e-01;SOR=0.624	GT:AD:DP:GQ:PL	3/4:0,0,0,32,27,0,0:59:99:2646,2571,2557,2571,2557,2557,1146,1147,1147,1036,1348,1347,1347,0,1250,2571,2557,2557,1147,1347,2557,2571,2557,2557,1147,1347,2557,2557	1	2	2	0
chr3	40462038	40462038	-	CTGCTGCTGCTG	exonic	RPL14	.	nonframeshift insertion	RPL14:NM_001034996:exon6:c.454_455insCTGCTGCTGCTG:p.A159_K160insAAAA	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6429	48025.3	76	chr3	40462029	.	ACTGCTGCTG	ACTGCTGCTGCTGCTG,ACTGCTGCTGCTGCTGCTGCTG,ACTGCTGCTGCTGCTGCTG,ACTGCTGCTGCTGCTGCTGCTGCTG,A,ACTGCTGCTGCTGCTGCTGCTGCTGCTG	48025.3	.	AC=12,3,11,8,1,1;AF=0.286,0.071,0.262,0.190,0.024,0.024;AN=42;BaseQRankSum=0.629;DP=1847;ExcessHet=0.1217;FS=0.843;InbreedingCoeff=0.2222;MLEAC=12,3,11,8,1,1;MLEAF=0.286,0.071,0.262,0.190,0.024,0.024;MQ=58.28;MQRankSum=-6.800e-01;QD=28.71;ReadPosRankSum=-7.900e-01;SOR=0.624	GT:AD:DP:GQ:PL	3/4:0,0,0,32,27,0,0:59:99:2646,2571,2557,2571,2557,2557,1146,1147,1147,1036,1348,1347,1347,0,1250,2571,2557,2557,1147,1347,2557,2571,2557,2557,1147,1347,2557,2557	1	2	2	0
chr3	40462038	40462038	-	CTGCTGCTG	exonic	RPL14	.	nonframeshift insertion	RPL14:NM_001034996:exon6:c.454_455insCTGCTGCTG:p.A159_K160insAAA	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6429	48025.3	76	chr3	40462029	.	ACTGCTGCTG	ACTGCTGCTGCTGCTG,ACTGCTGCTGCTGCTGCTGCTG,ACTGCTGCTGCTGCTGCTG,ACTGCTGCTGCTGCTGCTGCTGCTG,A,ACTGCTGCTGCTGCTGCTGCTGCTGCTG	48025.3	.	AC=12,3,11,8,1,1;AF=0.286,0.071,0.262,0.190,0.024,0.024;AN=42;BaseQRankSum=0.629;DP=1847;ExcessHet=0.1217;FS=0.843;InbreedingCoeff=0.2222;MLEAC=12,3,11,8,1,1;MLEAF=0.286,0.071,0.262,0.190,0.024,0.024;MQ=58.28;MQRankSum=-6.800e-01;QD=28.71;ReadPosRankSum=-7.900e-01;SOR=0.624	GT:AD:DP:GQ:PL	3/4:0,0,0,32,27,0,0:59:99:2646,2571,2557,2571,2557,2557,1146,1147,1147,1036,1348,1347,1347,0,1250,2571,2557,2557,1147,1347,2557,2571,2557,2557,1147,1347,2557,2557	1	2	2	0
chr3	40462038	40462038	-	CTGCTGCTGCTGCTG	exonic	RPL14	.	nonframeshift insertion	RPL14:NM_001034996:exon6:c.454_455insCTGCTGCTGCTGCTG:p.A159_K160insAAAAA	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6429	48025.3	76	chr3	40462029	.	ACTGCTGCTG	ACTGCTGCTGCTGCTG,ACTGCTGCTGCTGCTGCTGCTG,ACTGCTGCTGCTGCTGCTG,ACTGCTGCTGCTGCTGCTGCTGCTG,A,ACTGCTGCTGCTGCTGCTGCTGCTGCTG	48025.3	.	AC=12,3,11,8,1,1;AF=0.286,0.071,0.262,0.190,0.024,0.024;AN=42;BaseQRankSum=0.629;DP=1847;ExcessHet=0.1217;FS=0.843;InbreedingCoeff=0.2222;MLEAC=12,3,11,8,1,1;MLEAF=0.286,0.071,0.262,0.190,0.024,0.024;MQ=58.28;MQRankSum=-6.800e-01;QD=28.71;ReadPosRankSum=-7.900e-01;SOR=0.624	GT:AD:DP:GQ:PL	3/4:0,0,0,32,27,0,0:59:99:2646,2571,2557,2571,2557,2557,1146,1147,1147,1036,1348,1347,1347,0,1250,2571,2557,2557,1147,1347,2557,2571,2557,2557,1147,1347,2557,2557	1	2	2	0
chr3	40462038	40462038	-	CTGCTGCTGCTGCTGCTG	exonic	RPL14	.	nonframeshift insertion	RPL14:NM_001034996:exon6:c.454_455insCTGCTGCTGCTGCTGCTG:p.A159_K160insAAAAAA	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6429	48025.3	76	chr3	40462029	.	ACTGCTGCTG	ACTGCTGCTGCTGCTG,ACTGCTGCTGCTGCTGCTGCTG,ACTGCTGCTGCTGCTGCTG,ACTGCTGCTGCTGCTGCTGCTGCTG,A,ACTGCTGCTGCTGCTGCTGCTGCTGCTG	48025.3	.	AC=12,3,11,8,1,1;AF=0.286,0.071,0.262,0.190,0.024,0.024;AN=42;BaseQRankSum=0.629;DP=1847;ExcessHet=0.1217;FS=0.843;InbreedingCoeff=0.2222;MLEAC=12,3,11,8,1,1;MLEAF=0.286,0.071,0.262,0.190,0.024,0.024;MQ=58.28;MQRankSum=-6.800e-01;QD=28.71;ReadPosRankSum=-7.900e-01;SOR=0.624	GT:AD:DP:GQ:PL	3/4:0,0,0,32,27,0,0:59:99:2646,2571,2557,2571,2557,2557,1146,1147,1147,1036,1348,1347,1347,0,1250,2571,2557,2557,1147,1347,2557,2571,2557,2557,1147,1347,2557,2557	1	2	2	0
chr3	42210088	42210088	-	GGAGGA	exonic	TRAK1	.	nonframeshift insertion	TRAK1:NM_001265609:exon13:c.1844_1845insGGAGGA:p.E624_G625insEE	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5952	50111.8	90	chr3	42210085	.	CGGA	C,CGGAGGAGGA,CGGAGGAGGAGGAGGA,CGGAGGA	50111.8	.	AC=11,13,1,8;AF=0.262,0.310,0.024,0.190;AN=42;BaseQRankSum=-3.670e-01;DP=2201;ExcessHet=0.9430;FS=2.344;InbreedingCoeff=0.0101;MLEAC=11,13,1,8;MLEAF=0.262,0.310,0.024,0.190;MQ=60.00;MQRankSum=0.00;QD=33.50;ReadPosRankSum=-1.900e-01;SOR=0.492	GT:AD:DP:GQ:PL	2/4:0,0,44,0,37:81:99:3434,3361,3326,1501,1500,1357,3361,3326,1500,3326,1777,1758,0,1758,1615	1	3	1	0
chr3	42210088	42210088	-	GGAGGAGGAGGA	exonic	TRAK1	.	nonframeshift insertion	TRAK1:NM_001265609:exon13:c.1844_1845insGGAGGAGGAGGA:p.E624_G625insEEEE	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5952	50111.8	90	chr3	42210085	.	CGGA	C,CGGAGGAGGA,CGGAGGAGGAGGAGGA,CGGAGGA	50111.8	.	AC=11,13,1,8;AF=0.262,0.310,0.024,0.190;AN=42;BaseQRankSum=-3.670e-01;DP=2201;ExcessHet=0.9430;FS=2.344;InbreedingCoeff=0.0101;MLEAC=11,13,1,8;MLEAF=0.262,0.310,0.024,0.190;MQ=60.00;MQRankSum=0.00;QD=33.50;ReadPosRankSum=-1.900e-01;SOR=0.492	GT:AD:DP:GQ:PL	2/4:0,0,44,0,37:81:99:3434,3361,3326,1501,1500,1357,3361,3326,1500,3326,1777,1758,0,1758,1615	1	3	1	0
chr3	42210088	42210088	-	GGA	exonic	TRAK1	.	nonframeshift insertion	TRAK1:NM_001265609:exon13:c.1844_1845insGGA:p.E624_G625insE	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5952	50111.8	90	chr3	42210085	.	CGGA	C,CGGAGGAGGA,CGGAGGAGGAGGAGGA,CGGAGGA	50111.8	.	AC=11,13,1,8;AF=0.262,0.310,0.024,0.190;AN=42;BaseQRankSum=-3.670e-01;DP=2201;ExcessHet=0.9430;FS=2.344;InbreedingCoeff=0.0101;MLEAC=11,13,1,8;MLEAF=0.262,0.310,0.024,0.190;MQ=60.00;MQRankSum=0.00;QD=33.50;ReadPosRankSum=-1.900e-01;SOR=0.492	GT:AD:DP:GQ:PL	2/4:0,0,44,0,37:81:99:3434,3361,3326,1501,1500,1357,3361,3326,1500,3326,1777,1758,0,1758,1615	1	3	1	0
chr3	42223223	42223223	C	G	exonic	TRAK1	.	nonsynonymous SNV	TRAK1:NM_001349248:exon15:c.C2063G:p.P688R	.	.	421	1082	19	0	0	19	0.00870362	.	.	698084	TRAK1-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0	D	1.0	D	0.995	D	0.000	D	1.000	D	1.545	L	0.64	T	-0.692	T	0.181	T	0.478	3.601	18.33	4.45	1.271	5.805	13.001	0.236	0.0602834960965	0.0032	0.00159744	0.0040	0.0007	0.0016	0	0.0031	0.0055	0.0056	0.0038	0.0038227	591	154602	rs143591096	0.0046	0.0046	0.0046	0.0046	0.0102	0.0045	0.0045	0.0081	0.0074	0.0006	0.0025	0.0099	0	0.0046	0.0102	0.0049	0.0048	0.0037	0.0036	0.0036	0.0034	0.0037	0.0052	0.0033	0.0032	0.0043	0.0041	0.0008	0.0033	0.0052	0.0115	0	0.0044	0.0034	0.0047	0.0028	0.0025	0.105	0.63226	T	0.002	0.79402	D	1.0	0.90584	D	0.995	0.83170	D	0.000000	0.84330	D	0.000000	0.999772	0.48980	D	2.31	0.66127	M	0.64	0.52867	T	-4.18	0.78472	D	0.814	0.84090	-0.6917	0.60829	T	0.181	0.52798	T	10	0.014560461	0.00306	T	0.060283	0.67949	D	0.236	0.53931	.	.	0.814432940858	0.81269	0.6963725277447097	0.69578	0.93105587409	0.71815	0.663438677788	0.61900	T	0.698369	0.91292	D	-0.330531	0.06073	T	-0.246332	0.50178	T	0.0174422847877956	0.00481	T	0.953005	0.82069	D	0.25303912	0.48323	0.21788044	0.46470	0.27379662	0.50446	0.18927023	0.42263	-4.154	0.26082	T	.	.	0.693	0.72675	P	.;.;.	.;.;.	4.327590	0.66282	24.9	0.99842403403797753	0.92229	0.98629	0.84891	D	AEFDBI	0.698973	0.65648	D	0.48861473164218	0.66422	4.948293	0.4323055844489	0.63588	4.595643	0.999999758550495	0.74766	0.732398	0.92422	0	0.702456	0.74545	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.32	4.45	0.53365	5.890000	0.69515	5.918000	0.51122	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.910000	0.44547	0.0:0.9221:0.0:0.0779	13.001	0.58084	667	0.61242	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	2101.98	59	chr3	42223223	.	C	G	2101.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.442;DP=1054;ExcessHet=0.0000;FS=0.517;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.41;ReadPosRankSum=-9.500e-02;SOR=0.632	GT:AD:DP:GQ:PL	0/1:109,93:202:99:2116,0,2561	20	0	1	0
chr3	44243954	44243954	A	G	exonic	TOPAZ1	.	nonsynonymous SNV	TOPAZ1:NM_001145030:exon2:c.A1448G:p.Q483R,	.	.	426	1084	12	0	0	12	0.00550459	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.0	B	0.001	B	0.912	N	1.000	N	0	N	3.14	T	-0.926	T	0.008	T	0.083	-1.884	0.008	-3.29	-0.504	-0.166	13.357	0.035	.	0.0028	0.00579073	0.0037	0.0089	0.0044	0	0	0.0022	0.0039	0.0051	0.0009961	154	154602	rs17076541	0.0013	0.0013	0.0012	0.0014	0.0298	0.0013	0.0012	0.0261	0.0247	0.0105	0.0023	0.0023	0	0	0.0298	0.0007	0.0029	0.0032	0.0035	0.0035	0.0033	0.0036	0.0088	0.0032	0.0031	0.0081	0.0078	0.0088	0	0.0025	0.0017	0	0	0.0170	0.0012	0.0043	0.0043	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.001	0.04355	B	0.911959	0.07421	N	1.038110	1	0.08975	N	-0.205	0.04094	N	3.14	0.07920	T	1.27	0.00985	N	0.047	0.01911	-0.9259	0.44730	T	0.008	0.02638	T	10	0.0025490224	0.00039	T	.	.	.	0.035	0.08770	.	.	0.0482279557977	0.04254	0.21658741482236482	0.21574	.	.	0.221319049597	0.01388	T	8.32E-4	0.00412	T	-0.730454	0.00024	T	-0.814062	0.01576	T	0.0055632490905544	0.00061	T	0.524548	0.17205	T	0.039508287	0.05469	0.0520892	0.08514	0.039508287	0.05469	0.0520892	0.08514	-3.388	0.14896	T	.	.	0.067	0.02399	B	.	.	-0.212529	0.03027	0.463	0.32374395834308728	0.01872	0.01430	0.04814	N	AEFDBI	0.030791	0.03167	N	-1.35093760866715	0.03115	0.1386367	-1.27041351859735	0.04836	0.2290646	0.00976757613190134	0.11910	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	5.55	-3.29	0.04706	-0.026000	0.12340	-0.162000	0.11313	-0.208000	0.08445	0.426000	0.26377	0.000000	0.08366	0.843000	0.39806	0.4055:0.0:0.5945:0.0	13.357	0.60075	345	0.85689	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.04762	4169.11	41	chr3	44243954	.	A	G	4169.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-2.320e+00;DP=1262;ExcessHet=0.1072;FS=2.671;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=10.80;ReadPosRankSum=-4.560e-01;SOR=0.629	GT:AD:DP:GQ:PL	0/1:113,85:198:99:1940,0,3028	19	0	2	0
chr3	44244892	44244892	A	G	exonic	TOPAZ1	.	nonsynonymous SNV	TOPAZ1:NM_001145030:exon2:c.A2386G:p.K796E,	.	.	432	1078	12	0	0	12	0.00553506	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.763	P	0.242	B	.	.	1.000	N	0.695	N	2.68	T	-1.037	T	0.009	T	0.2	0.689	7.683	4.6	2.187	1.467	8.843	0.078	.	0.0083	0.0109824	0.0057	0.0281	0.0052	0	0	0.0024	0.0042	0.0051	0.0015524	240	154602	rs17076545	0.0018	0.0018	0.0018	0.0019	0.0302	0.0018	0.0018	0.0265	0.0251	0.0266	0.0034	0.0023	0	0	0.0302	0.0008	0.0042	0.0032	0.0085	0.0085	0.0087	0.0082	0.0259	0.0081	0.0079	0.0246	0.0241	0.0259	0	0.0043	0.0017	0	0	0.0204	0.0013	0.0099	0.0044	0.008	0.58626	D	0.0	0.92824	D	0.763	0.43659	P	0.242	0.38699	B	.	.	.	.	1	0.08975	N	1.795	0.47270	L	2.68	0.12371	T	-1.55	0.37566	N	0.255	0.28849	-1.0370	0.18233	T	0.009	0.03011	T	9	0.003294468	0.00057	T	.	.	.	0.078	0.22779	.	.	0.0716867268079	0.06686	0.2982062153470853	0.29733	.	.	0.336203336716	0.15869	T	0.011622	0.10346	T	-0.586762	0.00175	T	-0.593989	0.13322	T	0.0180266410121894	0.00526	T	0.639636	0.25265	T	0.20178348	0.42200	0.18954335	0.42307	0.20178348	0.42200	0.18954335	0.42306	-3.889	0.22137	T	.	.	0.083	0.09385	B	.	.	1.950725	0.24781	16.52	0.99123435050489805	0.53063	0.11872	0.16915	N	AEDBI	0.054050	0.09793	N	-0.191757305705605	0.33477	1.899678	-0.177528634749536	0.32366	1.840599	0.954957825442561	0.28161	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	5.74	4.6	0.56512	1.477000	0.35039	5.575000	0.48953	0.691000	0.84096	0.006000	0.17386	1.000000	0.68203	0.814000	0.38357	0.8578:0.0:0.1422:0.0	8.843	0.34314	345	0.85689	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	4574.11	41	chr3	44244892	.	A	G	4574.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=3.41;DP=1188;ExcessHet=0.1072;FS=6.893;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=12.64;ReadPosRankSum=0.391;SOR=1.021	GT:AD:DP:GQ:PL	0/1:98,86:184:99:2386,0,2514	19	0	2	0
chr3	44421810	44421810	A	T	exonic	C3orf86	.	startloss	C3orf86:NM_001351480:exon2:c.T2A:p.M1?	.	.	1009	509	4	0	0	4	0.00391389	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00898562	.	.	.	.	.	.	.	.	0.0036115	94	26028	rs112666989	0	8.111e-05	0	0	.	0	0	.	.	.	.	.	.	0	.	0	.	.	0.0052	0.0052	0.0050	0.0054	0.0144	0.0049	0.0048	0.0134	0.0130	0.0144	0	0.0032	0.0017	0	0	0.0204	0.0014	0.0071	0.0046	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	3466.11	33	chr3	44421810	.	A	T	3466.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.57;DP=938;ExcessHet=0.1072;FS=3.315;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=12.60;ReadPosRankSum=-2.820e-01;SOR=0.901	GT:AD:DP:GQ:PL	0/1:66,79:145:99:1948,0,1442	19	0	2	0
chr3	47003251	47003251	C	G	exonic	NBEAL2	.	nonsynonymous SNV	NBEAL2:NM_001365116:exon34:c.C5560G:p.P1854A	Gray platelet syndrome, Autosomal recessive	.	0	1508	13	1	0	15	0.00494886	.	.	889194	Gray_platelet_syndrome|not_specified	MONDO:MONDO:0007686,MedGen:C0272302,OMIM:139090,Orphanet:721|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.71	T	0.0	B	0.001	B	0.013	N	1.000	N	1.245	L	1.07	T	-1.023	T	0.093	T	0.169	1.218	9.942	2.26	0.647	0.536	7.037	0.032	.	.	0.000599042	0.0016	0	0.0003	0	0	0.0003	0.0011	0.0102	0.0012872	199	154602	rs200641534	0.0008	0.0008	0.0005	0.0011	0.0099	0.0007	0.0007	0.0093	0.0091	2.987e-05	0.0004	0.0007	0.0001	0	0.0038	0.0002	0.0009	0.0099	0.0005	0.0005	0.0003	0.0008	0.0110	0.0004	0.0004	0.0086	0.0078	4.814e-05	0	0.0005	0.0006	0.0002	0	0.0034	0.0002	0.0009	0.0110	0.274	0.15823	T	.	.	.	0.0	0.02946	B	0.0	0.01387	B	0.012993	0.28987	N	0.316013	1	0.08975	N	1.78	0.46185	L	0.49	0.55775	T	-1.51	0.36787	N	0.255	0.28849	-1.0230	0.22736	T	0.093	0.35498	T	10	0.005277723	0.00115	T	.	.	.	0.064	0.18567	.	.	0.228066490088	0.22430	0.3114813273173009	0.31061	0.184002297361	0.20694	0.375576615334	0.21628	T	0.026963	0.19847	T	-0.519116	0.00445	T	-0.511911	0.21119	T	0.0108572421454539	0.00155	T	0.729627	0.34527	T	0.029273508	0.02396	0.03950321	0.04059	0.029273508	0.02395	0.03950321	0.04059	-3.967	0.23308	T	.	.	0.062	0.01367	B	.	.	1.519748	0.19514	14.30	0.91058482078549119	0.20310	0.28716	0.23630	N	AEFDGBCI	0.063515	0.12278	N	-0.394554004495757	0.25662	1.39473	-0.488080824988276	0.22480	1.221263	0.999990728773109	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	4.16	2.26	0.27418	0.543000	0.22945	0.233000	0.16214	0.599000	0.40250	0.002000	0.15269	0.001000	0.17328	0.827000	0.38976	0.1974:0.6117:0.1908:0.0	7.037	0.24177	25	0.98345	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1473.98	38	chr3	47003251	.	C	G	1473.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.81;DP=894;ExcessHet=0.0000;FS=9.180;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.45;ReadPosRankSum=0.066;SOR=1.631	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:61,41:102:99:0|1:47003250_A_C:1488,0,2414:47003250	20	0	1	0
chr3	47406736	47406736	A	C	exonic	PTPN23	.	nonsynonymous SNV	PTPN23:NM_001304482:exon8:c.A415C:p.K139Q	.	.	.	.	.	.	.	.	.	.	.	1375282	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.11	T	0.995	D	0.855	P	0.000	D	1.000	D	1.915	M	2.11	T	-1.052	T	0.104	T	0.503	5.301	34	5.11	1.934	9.135	13.903	0.213	0.0324295997479	7.7e-05	.	8.447e-06	0	0	0	0	0	0	6.107e-05	6.5e-06	1	154602	rs142355354	1.163e-05	1.163e-05	1.225e-05	1.1e-05	0.0001	7.09e-06	5.79e-06	4.907e-05	3.165e-05	0	2.237e-05	0	0.0001	0	0	6.295e-06	1.657e-05	3.479e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.109	0.29288	T	0.002	0.79402	D	0.995	0.67487	D	0.855	0.60933	P	0.000007	0.62929	D	0.105878	1	0.81001	D	1.345	0.33447	L	2.11	0.19860	T	-3.1	0.63554	D	0.653	0.66358	-1.0522	0.13790	T	0.104	0.38292	T	10	0.673263	0.70840	D	0.03243	0.54256	D	0.213	0.50496	.	.	0.514164750395	0.51057	0.5063738269041009	0.50559	0.469675935113	0.46268	0.702721297741	0.67538	T	0.313175	0.68494	T	-0.144731	0.29139	T	-0.348819	0.39339	T	0.84099543094635	0.49409	D	0.949805	0.80758	D	0.698265	0.77961	0.3417842	0.59913	0.698265	0.77963	0.3417842	0.59913	-11.818	0.83953	D	.	.	0.378	0.58304	A	.	.	4.926677	0.81191	27.5	0.99322525247007143	0.59431	0.99149	0.91949	D	AEFDGBHCI	0.912231	0.87258	D	0.439076891784545	0.63586	4.595208	0.510956867862608	0.68727	5.260084	1.0	0.98316	0.706548	0.73137	0	0.697927	0.68747	0	0.779548	0.98927	0	0.714379	0.83352	0	.	.	5.11	5.11	0.69188	7.380000	0.78983	11.092000	0.85948	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	1.0:0.0:0.0:0.0	13.903	0.63319	19	0.98577	BRO1 domain|BRO1 domain|BRO1 domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1242.98	34	chr3	47406736	.	A	C	1242.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.825;DP=783;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=18.28;ReadPosRankSum=0.598;SOR=0.693	GT:AD:DP:GQ:PL	0/1:28,40:68:99:1257,0,851	20	0	1	0
chr3	48645117	48645117	C	T	exonic	CELSR3	.	nonsynonymous SNV	CELSR3:NM_001407:exon25:c.G7890A:p.M2630I,	.	.	415	1027	71	9	0	89	0.0415306	.	.	48715	not_provided|Variant_of_unknown_significance	MedGen:C3661900|MedGen:C2986382	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.02	D	0.987	D	0.908	P	.	.	1.000	D	2.295	M	1.29	T	-0.644	T	0.226	T	0.875	5.093	31	5.24	2.450	7.460	18.828	0.393	.	0.0009	0.00319489	0.0044	0.0002	0.0027	0	0.0002	0.0026	0.0084	0.0197	0.0036869	570	154602	rs149614835	0.0024	0.0025	0.0019	0.0030	0.0382	0.0024	0.0024	0.0341	0.0325	0.0009	0.0017	0.0094	5.072e-05	0.0003	0.0382	0.0011	0.0040	0.0181	0.0018	0.0018	0.0015	0.0020	0.0190	0.0016	0.0015	0.0159	0.0147	0.0003	0	0.0020	0.0098	0	0.0002	0.0170	0.0013	0.0024	0.0190	0.006	0.61437	D	0.005	0.72224	D	0.987	0.61912	D	0.908	0.64494	P	.	.	.	.	1	0.81001	D	2.13	0.59329	M	1.29	0.35775	T	-3.59	0.69236	D	0.812	0.80767	-0.6440	0.62974	T	0.226	0.59007	T	9	0.011453748	0.00250	T	.	.	.	0.393	0.70844	0.547	0.66156	0.808317247251	0.80651	0.8152272965699411	0.81478	0.981655826999	0.73759	0.719656050205	0.69997	T	0.370865	0.73533	T	-0.112624	0.34336	T	0.0810421	0.75648	D	0.0384281591043975	0.03409	T	0.772323	0.40326	T	0.5032531	0.67286	0.45666093	0.68420	0.5032531	0.67287	0.45666093	0.68420	-10.2	0.75100	D	.	.	0.409	0.60090	A	.	.	4.422272	0.68507	25.2	0.99749842171488468	0.84152	0.98385	0.82238	D	AEFBI	0.885987	0.81699	D	0.678335262368401	0.78214	6.826448	0.68768746655041	0.81442	7.527931	0.999999999992481	0.74766	0.695654	0.57023	0	0.588015	0.36545	0	0.723109	0.80598	0	0.604944	0.38103	0	.	.	5.24	5.24	0.72863	7.541000	0.81014	2.197000	0.31255	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:1.0:0.0:0.0	18.828	0.92093	4	0.99387	GPCR, family 2-like	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	2795.11	38	chr3	48645117	.	C	T	2795.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-1.390e-01;DP=888;ExcessHet=0.1072;FS=0.000;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=14.41;ReadPosRankSum=-1.810e-01;SOR=0.726	GT:AD:DP:GQ:PL	0/1:42,63:105:99:1727,0,1118	19	0	2	0
chr3	49358244	49358246	GCC	-	exonic	GPX1	.	nonframeshift deletion	GPX1:NM_001329455:exon1:c.33_35del:p.A13del,	Hemolytic anemia due to glutathione peroxidase deficiency, Autosomal recessive	.	33	116	273	343	757	1716	0.805206	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6429	62247.2	96	chr3	49358240	.	GGCCGCC	G,GGCC	62247.2	.	AC=20,13;AF=0.476,0.310;AN=42;BaseQRankSum=0.442;DP=2322;ExcessHet=4.7172;FS=0.000;InbreedingCoeff=-0.2727;MLEAC=20,13;MLEAF=0.476,0.310;MQ=56.82;MQRankSum=-5.003e+00;QD=32.09;ReadPosRankSum=-2.300e-01;SOR=0.702	GT:AD:DP:GQ:PL	1/1:0,96,0:96:99:4315,290,0,4315,290,4315	0	4	6	0
chr3	49531976	49531976	C	T	exonic	DAG1	.	nonsynonymous SNV	DAG1:NM_001177639:exon3:c.C1465T:p.R489C	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 9, Autosomal recessive;Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 9, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.66	P	0.118	B	0.008	N	0.995	D	1.1	L	0.85	T	-1.048	T	0.096	T	0.706	2.299	13.65	5.76	2.728	2.545	16.887	0.120	0.0100541318785	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1227438701	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	6.571e-06	6.566e-06	0	1.345e-05	2.413e-05	0	0	.	.	2.413e-05	0	0	0	0	0	0	0	0	0	0.01	0.56456	D	0.096	0.39340	T	0.66	0.40908	P	0.118	0.32088	B	0.008203	0.30959	N	0.323222	0.995114	0.42550	D	1.245	0.31408	L	0.85	0.47130	T	-1.23	0.31170	N	0.326	0.37405	-1.0483	0.14875	T	0.096	0.36212	T	9	0.3049006	0.48011	T	0.010054	0.26124	T	0.120	0.33359	0.607	0.73945	0.736136907216	0.73378	0.6331347669512689	0.63247	0.778182672044	0.65140	0.33805218339	0.16146	T	0.386316	0.74751	T	0.0274162	0.55379	T	-0.198395	0.54798	T	0.780014634132385	0.45051	D	0.947705	0.79824	D	0.09728915	0.22930	0.06168053	0.11947	0.09728915	0.22930	0.06168053	0.11947	-7.651	0.58666	D	.	.	0.227	0.45942	B	.;.;.;.;.;.	.;.;.;.;.;.	3.960607	0.58084	23.9	0.99791732321950588	0.87750	0.90375	0.51501	D	AEFDBCI	0.521175	0.54572	D	0.189402583367697	0.50690	3.256684	0.323541493492102	0.56927	3.85685	0.996526819513342	0.34806	0.706548	0.73137	0	0.577304	0.33150	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.76	5.76	0.90726	3.557000	0.53487	7.661000	0.64234	0.599000	0.40250	0.998000	0.41325	1.000000	0.68203	0.946000	0.48989	0.0:1.0:0.0:0.0	16.887	0.85946	1	0.99630	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2532.98	35	chr3	49531976	.	C	T	2532.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.836;DP=990;ExcessHet=0.0000;FS=0.604;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.03;ReadPosRankSum=-7.320e-01;SOR=0.624	GT:AD:DP:GQ:PL	0/1:63,95:158:99:2547,0,1470	20	0	1	0
chr3	50187822	50187822	G	A	exonic	SEMA3F	.	nonsynonymous SNV	SEMA3F:NM_001318798:exon18:c.G1768A:p.V590I	.	.	412	1102	8	0	0	8	0.00361664	.	.	3210854	SEMA3F-related_disorder	.	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.95	T	0.39	B	0.032	B	0.001	N	0.956	D	0.695	N	4.79	T	-0.888	T	0.004	T	0.1	0.714	7.802	3.58	0.617	2.701	10.298	0.063	0.0161833697957	0.0011	0.000399361	0.0012	0.0003	0.0029	0	0.0011	0.0013	0.0023	0.0007	0.0010026	155	154602	rs141689328	0.0010	0.0010	0.0010	0.0010	0.0071	0.0010	0.0010	0.0054	0.0048	0.0008	0.0021	0.0030	0	0.0013	0.0071	0.0009	0.0015	0.0005	0.0009	0.0009	0.0009	0.0009	0.0012	0.0008	0.0007	0.0010	0.0009	0.0002	0	0.0010	0.0049	0	0.0010	0	0.0012	0.0019	0.0002	0.47	0.08483	T	0.303	0.20164	T	0.39	0.34593	B	0.032	0.22131	B	0.000545	0.43413	N	0.204155	0.928855	0.37948	D	1.525	0.38595	L	4.79	0.01539	T	0.47	0.03090	N	0.052	0.02366	-0.8880	0.49105	T	0.004	0.01192	T	10	0.005934298	0.00133	T	0.016183	0.37308	T	0.063	0.18251	.	.	0.220282294035	0.21616	0.18279266278182113	0.18198	0.175518212724	0.19754	0.437951624393	0.30298	T	0.013103	0.35868	T	-0.610742	0.00125	T	-0.656541	0.08502	T	0.00309019147921699	0.00032	T	0.828517	0.49484	T	0.011967518	0.00025	0.02595954	0.00662	0.011967518	0.00025	0.02595954	0.00662	-7.141	0.57512	T	.	.	0.071	0.09917	B	.;.;.	.;.;.	2.446189	0.31491	18.76	0.92189602201923893	0.21557	0.92422	0.55675	D	AEFDBI	0.233477	0.35639	N	-0.508233363791091	0.21813	1.160363	-0.374450260737225	0.25761	1.418685	0.999667659137361	0.41534	0.706548	0.73137	0	0.588066	0.40923	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	5.42	3.58	0.40133	1.885000	0.39312	2.518000	0.33107	0.672000	0.70159	0.979000	0.35152	0.996000	0.32793	0.557000	0.30341	0.1671:0.0:0.8329:0.0	10.298	0.42818	4	0.99387	Immunoglobulin-like domain|Immunoglobulin subtype;Immunoglobulin-like domain|Immunoglobulin subtype;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1820.98	36	chr3	50187822	.	G	A	1820.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.585e+00;DP=921;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.10;ReadPosRankSum=1.10;SOR=0.693	GT:AD:DP:GQ:PL	0/1:82,82:164:99:1835,0,1943	20	0	1	0
chr3	50273405	50273405	G	C	exonic	SEMA3B	.	nonsynonymous SNV	SEMA3B:NM_001290060:exon7:c.G772C:p.G258R	.	.	413	1092	15	2	0	19	0.0086246	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07	T	1.0	D	1.0	D	0.000	D	.	.	.	.	.	.	-0.219	T	0.334	T	0.143	1.157	9.711	5.0	2.597	3.511	9.239	0.366	.	0.0002	0.000599042	0.0008	0	0.0003	0	0	0.0006	0.0011	0.0036	0.0006856	106	154602	rs148660513	0.0005	0.0005	0.0004	0.0006	0.0042	0.0005	0.0004	0.0030	0.0028	2.987e-05	0.0005	0.0027	0	0	0.0042	0.0002	0.0009	0.0033	0.0005	0.0005	0.0004	0.0006	0.0031	0.0004	0.0004	0.0019	0.0015	4.808e-05	0	0.0013	0.0037	0	0	0	0.0003	0.0028	0.0031	.	.	.	0.096	0.39340	T	1.0	0.90584	D	0.999	0.97372	D	0.000000	0.84330	D	0.053184	.	.	.	.	.	.	.	.	.	.	.	.	0.471	0.53181	-0.2191	0.77175	T	0.334	0.70150	T	7	0.015580356	0.00327	T	.	.	.	.	.	0.558	0.67684	0.502005994047	0.49837	0.7706683465859802	0.77015	.	.	0.614570021629	0.54961	T	0.115302	0.43378	T	-0.312711	0.07511	T	-0.22407	0.52344	T	0.241436918317453	0.22486	T	0.864713	0.56210	D	0.3951943	0.60398	0.5366691	0.73225	0.3951943	0.60399	0.5366691	0.73226	-8.129	0.61946	D	.	.	0.347	0.61414	A	.;.;.;.	.;.;.;.	5.526492	0.91831	32	0.91339233937260367	0.20602	0.87689	0.47313	D	AEFDGBCIJ	.	.	.	0.554139045670579	0.70335	5.486381	0.515404544528013	0.69026	5.301851	0.999999996992565	0.74766	0.228283	0.04149	0	0.225491	0.04819	0	0.181291	0.04369	1	0.166187	0.04126	0	0.891219	0.55852	5.0	5.0	0.66209	3.388000	0.52247	9.883000	0.82214	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.601000	0.31412	0.0959:0.0:0.9041:0.0	9.239	0.36647	3	0.99430	Sema domain|Sema domain|Sema domain;Sema domain|Sema domain|Sema domain;.;Sema domain|Sema domain|Sema domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.04762	4580.11	222	chr3	50273405	.	G	C	4580.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.285;DP=1090;ExcessHet=0.1072;FS=0.000;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=10.85;ReadPosRankSum=0.496;SOR=0.640	GT:AD:DP:GQ:PL	0/1:107,93:200:99:2134,0,2617	19	0	2	0
chr3	51944495	51944495	C	T	exonic	PARP3	.	nonsynonymous SNV	PARP3:NM_001003931:exon4:c.C418T:p.R140W	.	.	422	1097	3	0	0	3	0.0013655	.	.	2365172	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.000	D	0.997	D	3.88	H	2.03	T	-0.333	T	0.227	T	0.855	1.874	12.23	2.38	0.175	0.075	15.957	0.413	0.0440982866314	0.0013	0.000199681	0.0007	0.0004	8.64e-05	0.0001	0	0.0010	0	0.0007	0.0007244	112	154602	rs201155006	0.0011	0.0011	0.0010	0.0011	0.0014	0.0010	0.0010	0.0012	0.0012	0.0001	0.0002	3.826e-05	0.0001	1.874e-05	0.0014	0.0012	0.0012	0.0008	0.0008	0.0008	0.0009	0.0006	0.0015	0.0007	0.0006	0.0013	0.0012	0.0002	0	6.534e-05	0	0	0	0.0034	0.0015	0.0005	0.0010	0.001	0.78490	D	0.001	0.83351	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	0.996703	0.43365	D	3.845	0.95734	H	2.03	0.20959	T	-6.6	0.94377	D	0.825	0.82057	-0.3330	0.74046	T	0.227	0.59221	T	10	0.17308825	0.32118	T	0.044098	0.61317	D	0.413	0.72404	.	.	0.680807706874	0.67809	0.8413697464088792	0.84096	0.384340615699	0.39735	0.51115167141	0.40383	T	0.118227	0.43889	T	-0.157734	0.27110	T	-0.0183643	0.69136	D	0.224244453547549	0.21673	T	0.893711	0.63503	D	0.74227446	0.80422	0.48678634	0.70298	0.74227446	0.80424	0.48678634	0.70299	-9.243	0.69248	D	.	.	0.172	0.42244	B	.;.;.;.	.;.;.;.	2.337589	0.29950	18.29	0.99768949782139627	0.85750	0.17462	0.19848	N	AEFDBI	0.453681	0.50671	N	-0.00293879338005637	0.41722	2.500746	-0.263754736763977	0.29302	1.640545	0.99969418524919	0.41870	0.706548	0.73137	0	0.724815	0.89359	0	0.577349	0.28860	0	0.755437	0.99637	0	.	.	5.23	2.38	0.28415	0.090000	0.14865	-0.144000	0.11487	-0.223000	0.07921	0.097000	0.22731	0.000000	0.08366	0.019000	0.11356	0.6395:0.3605:0.0:0.0	15.957	0.79688	266	0.89551	WGR domain|WGR domain;WGR domain|WGR domain;.;WGR domain|WGR domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1671.98	41	chr3	51944495	.	C	T	1671.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.55;DP=948;ExcessHet=0.0000;FS=8.252;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.58;ReadPosRankSum=1.70;SOR=0.972	GT:AD:DP:GQ:PL	0/1:91,67:158:99:1686,0,2101	20	0	1	0
chr3	51993843	51993843	-	CCTTGG	exonic	RPL29	.	nonframeshift insertion	RPL29:NM_000992:exon4:c.385_386insCCAAGG:p.K130_D131insAK,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4	9890.36	23	chr3	51993837	.	TCCTTGG	TCCTTGGCCTTGG,T	9890.36	.	AC=10,8;AF=0.250,0.200;AN=40;BaseQRankSum=0.471;DP=604;ExcessHet=4.5531;FS=11.809;InbreedingCoeff=-0.2121;MLEAC=10,8;MLEAF=0.250,0.200;MQ=57.96;MQRankSum=0.00;QD=24.85;ReadPosRankSum=-3.600e-02;SOR=1.183	GT:AD:DP:GQ:PL	1/2:0,22,12:34:99:1402,489,423,916,0,963	5	0	8	1
chr3	53876082	53876082	-	GGGG	splicing	ACTR8	NM_022899:exon7:c.779-2->CCCC	.	.	.	.	440	839	208	22	13	265	0.13057	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0.0026	9.259e-05	0	0	0	0	0	0.0001811	28	154602	rs370490982	0.0002	0.0002	0.0002	0.0001	0.0056	0.0001	0.0001	0.0049	0.0047	0.0056	0.0003	0	0	0	0.0005	6.407e-06	0.0005	3.588e-05	0.0024	0.0025	0.0023	0.0024	0.0082	0.0022	0.0021	0.0075	0.0072	0.0082	0	0.0014	0	0	0	0	1.497e-05	0.0024	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2143	9238.32	34	chr3	53876082	.	T	TG,TGGGG	9238.32	.	AC=8,1;AF=0.190,0.024;AN=42;BaseQRankSum=0.075;DP=1434;ExcessHet=0.9430;FS=1.872;InbreedingCoeff=0.0101;MLEAC=8,1;MLEAF=0.190,0.024;MQ=60.00;MQRankSum=0.00;QD=12.62;ReadPosRankSum=-6.550e-01;SOR=0.551	GT:AD:DP:GQ:PL	0/1:45,47,0:92:99:1057,0,1529,1194,1670,2863	13	1	6	0
chr3	57322364	57322364	C	A	exonic	DNAH12	.	nonsynonymous SNV	DNAH12:NM_001366028:exon65:c.G10503T:p.K3501N,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.47	T	0.024	B	0.055	B	0.621	N	1.000	N	-1.17	N	4.4	T	-0.890	T	0.007	T	0.126	1.282	10.19	-5.57	-0.638	-0.162	9.356	0.023	0.00979655850758	.	.	4.587e-05	0	0	0	0	0	0	0.0001	1.29e-05	2	154602	rs757419841	5.718e-06	5.472e-06	4.231e-06	7.247e-06	2.529e-05	2.46e-06	1.78e-06	4.2e-06	1.57e-06	0	0	0	0	0	0	4.635e-06	1.723e-05	2.529e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.416	0.09958	T	.	.	.	0.024	0.19075	B	0.055	0.25995	B	0.621336	0.10775	N	0.846463	1	0.08975	N	-1.985	0.00201	N	3.06	0.08634	T	0.9	0.01618	N	0.143	0.14338	-0.8897	0.48960	T	0.007	0.02282	T	10	0.017258823	0.00367	T	0.009797	0.25563	T	0.023	0.04649	0.392	0.41606	0.0611884634855	0.05136	.	.	.	.	0.30009740591	0.10415	T	0.001283	0.00766	T	-0.45031	0.01125	T	-0.756837	0.03227	T	0.0478246808052063	0.05112	T	0.743826	0.36376	T	0.06580069	0.14097	0.052955426	0.08825	0.06580069	0.14097	0.052955426	0.08825	-0.097	0.00385	T	.	.	0.143	0.31381	B	.;.	.;.	0.448245	0.08180	4.918	0.95397306232214329	0.26843	0.02642	0.07243	N	AEFDBI	0.059615	0.11271	N	-1.27584089711767	0.03969	0.1782535	-1.22416400604738	0.05524	0.2634226	0.0110209385005413	0.12117	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.530356	0.10902	0	.	.	5.53	-5.57	0.02321	-0.447000	0.06901	-1.263000	0.05873	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.995000	0.73285	0.6651:0.1164:0.0:0.2186	9.356	0.37327	225	0.91282	Dynein heavy chain domain;Dynein heavy chain domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	878.98	34	chr3	57322364	.	C	A	878.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.307e+00;DP=772;ExcessHet=0.0000;FS=4.368;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.72;ReadPosRankSum=0.153;SOR=0.331	GT:AD:DP:GQ:PL	0/1:42,40:82:99:893,0,1038	20	0	1	0
chr3	58148789	58148789	C	T	exonic	FLNB	.	nonsynonymous SNV	FLNB:NM_001164319:exon35:c.C5956T:p.R1986C	Atelosteogenesis, type I, Autosomal dominant;Atelosteogenesis, type III, Autosomal dominant;Boomerang dysplasia, Autosomal dominant;Larsen syndrome, Autosomal dominant;Spondylocarpotarsal synostosis syndrome, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	795463	not_provided|Spondylocarpotarsal_synostosis_syndrome|FLNB-Related_Spectrum_Disorders	MedGen:C3661900|MONDO:MONDO:0010094,MedGen:C1848934,OMIM:272460,Orphanet:3275|MedGen:CN239400	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.03	D	0.999	D	0.945	D	0.007	N	1.000	D	0.55	N	-1.92	D	0.300	D	0.619	D	0.498	4.389	23.2	5.99	2.840	3.231	20.478	0.481	0.0579027307783	7.7e-05	0.000199681	0.0003	0.0003	0.0003	0	0	0.0003	0.0011	0.0006	0.0002458	38	154602	rs138034708	0.0001	0.0001	0.0001	0.0002	0.0028	0.0001	0.0001	0.0017	0.0014	0.0004	0.0002	0.0003	0	0	0.0028	8.903e-05	0.0004	0.0004	0.0001	0.0001	7.71e-05	0.0002	0.0003	9.145e-05	7.701e-05	0.0001	8.282e-05	0.0001	0	0.0003	0	0	0	0	0.0001	0.0009	0	0.021	0.49117	D	0.032	0.53788	D	0.999	0.77913	D	0.849	0.63994	P	0.006517	0.31983	N	0.379586	0.999758	0.48888	D	0.895	0.22405	L	-1.92	0.84773	D	-3.6	0.70191	D	0.555	0.70966	0.300	0.87553	D	0.619	0.86559	D	10	0.33929753	0.51019	T	0.057903	0.67131	D	0.481	0.77142	.	.	0.907696214181	0.90677	0.45604988122069645	0.45522	0.932039959237	0.71862	0.553962826729	0.46416	T	0.73193	0.92504	D	-0.155314	0.27482	T	-0.132914	0.60726	T	0.112456031143665	0.13676	T	0.983402	0.94639	D	0.2090826	0.43164	0.20875661	0.45192	0.2090826	0.43164	0.20875661	0.45191	-8.529	0.65010	D	0.17818408462602342	0.22824	0.142	0.31304	B	.;.;.;.;.	.;.;.;.;.	4.855655	0.79407	27.1	0.99934517465582462	0.99535	0.88561	0.48546	D	AEFDGBCI	0.559178	0.56810	D	0.54586568376157	0.69831	5.413199	0.610959799776502	0.75734	6.363275	0.999999959245307	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.99	5.99	0.97299	3.302000	0.51557	2.689000	0.34074	0.599000	0.40250	0.988000	0.36536	1.000000	0.68203	0.992000	0.67800	0.0:1.0:0.0:0.0	20.478	0.99191	503	0.75780	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1595.98	37	chr3	58148789	.	C	T	1595.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.87;DP=890;ExcessHet=0.0000;FS=1.265;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.17;ReadPosRankSum=0.137;SOR=0.583	GT:AD:DP:GQ:PL	0/1:90,67:157:99:1610,0,1993	20	0	1	0
chr3	75730451	75730451	T	G	exonic	ZNF717	.	stoploss	ZNF717:NM_001324027:exon7:c.A2396C:p.X799S,	.	.	432	314	768	8	0	784	0.555241	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000461	12	26028	rs75952318	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.5	49921.47	133	chr3	75730451	.	T	G	49921.47	.	AC=20;AF=0.500;AN=40;BaseQRankSum=-1.927e+00;DP=2763;ExcessHet=51.1880;FS=6.167;InbreedingCoeff=-1.0000;MLEAC=21;MLEAF=0.525;MQ=54.60;MQRankSum=-6.357e+00;QD=18.50;ReadPosRankSum=1.68;SOR=0.393	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:90,41:131:99:0|1:75730450_C_T:1430,0,3615:75730450	0	0	20	1
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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	1725.72	84	chr3	75730611	.	G	T	1725.72	.	AC=10;AF=0.250;AN=40;BaseQRankSum=0.901;DP=1563;ExcessHet=6.1002;FS=32.590;InbreedingCoeff=-0.3415;MLEAC=10;MLEAF=0.250;MQ=56.09;MQRankSum=-5.845e+00;QD=2.20;ReadPosRankSum=-2.408e+00;SOR=8.346	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:75,6:81:21:0|1:75730591_G_A:21,0,3126:75730591	10	0	10	1
chr3	75736884	75736884	-	A	exonic	ZNF717	.	stoploss	ZNF717:NM_001128223:exon5:c.2738dupT:p.*915delinsLNTQPTPLWLLLQISPCSV*	.	.	408	790	324	0	0	324	0.170168	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0673505	1753	26028	rs149076283	2.008e-05	1.984e-05	1.697e-05	2.328e-05	2.801e-05	1.393e-05	1.199e-05	1.594e-05	1.347e-05	0	0	0	2.801e-05	0	0	2.322e-05	1.729e-05	1.281e-05	1.313e-05	1.312e-05	2.569e-05	0	2.939e-05	2.18e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.939e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4048	13057.87	155	chr3	75736884	.	G	GA	13057.87	.	AC=17;AF=0.405;AN=42;BaseQRankSum=-2.070e-01;DP=3250;ExcessHet=25.1139;FS=1.336;InbreedingCoeff=-0.6800;MLEAC=17;MLEAF=0.405;MQ=56.86;MQRankSum=-7.182e+00;QD=4.87;ReadPosRankSum=0.148;SOR=0.572	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:117,29:146:99:.:.:401,0,4564	4	0	17	0
chr3	75736891	75736891	G	A	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.C2732T:p.S911F	.	.	413	564	544	0	1	545	0.325359	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3	T	0.024	B	0.002	B	.	.	1.000	N	0	N	3.37	T	-0.932	T	0.010	T	0.477	1.695	11.63	-0.734	-0.244	-0.140	5.509	0.061	0.00165921998894	.	.	.	.	.	.	.	.	.	.	0.0107192	279	26028	rs77747132	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.038	0.42783	D	0.001	0.83351	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	3.22	0.07024	T	-1.16	0.29727	N	0.094	0.07398	-0.9320	0.43844	T	0.010	0.03856	T	9	0.06138295	0.07688	T	0.001659	0.02728	T	0.061	0.17616	.	.	0.0138822411134	0.00435	0.004917126878572224	0.00463	.	.	0.422835052013	0.28227	T	.	.	.	-0.173524	0.24704	T	-0.487032	0.23703	T	0.330072145045039	0.26228	T	0.353565	0.07967	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.167	0.36732	B	.	.	1.343956	0.17510	13.20	0.99194171637765427	0.55083	0.00118	0.00744	N	AEFDBCI	0.022343	0.01105	N	-1.23987897260233	0.04434	0.2001198	-1.31939943106607	0.04180	0.1966005	0.999947639461096	0.47345	0.562547	0.31514	0	0.653731	0.59785	0	0.517114	0.09559	2	0.264475	0.05362	3	.	.	1.54	-0.734	0.10579	-0.650000	0.05477	.	.	0.542000	0.25261	0.000000	0.06391	0.000000	0.08366	0.005000	0.06747	0.3382:0.0:0.6618:0.0	5.509	0.16158	987	0.02648	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.4762	30918.43	158	chr3	75736891	.	G	A	30918.43	.	AC=20;AF=0.476;AN=42;BaseQRankSum=-2.300e-01;DP=3330;ExcessHet=43.6797;FS=1.234;InbreedingCoeff=-0.9091;MLEAC=20;MLEAF=0.476;MQ=57.04;MQRankSum=-9.187e+00;QD=9.77;ReadPosRankSum=0.205;SOR=0.592	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:106,49:155:99:.:.:1447,0,3441	1	0	20	0
chr3	75736920	75736920	C	A	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.G2703T:p.E901D	.	.	404	577	541	0	0	541	0.319174	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.17	T	0.111	B	0.006	B	.	.	1.000	N	0	N	3.39	T	-0.948	T	0.010	T	0.567	0.479	6.601	-0.249	-0.078	-0.941	3.115	0.103	0.00110452594305	.	.	.	.	.	.	.	.	.	.	0.071231	1854	26028	rs111230396	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3	0.14497	T	0.062	0.45318	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	3.23	0.06931	T	-1.02	0.26843	N	0.085	0.06190	-0.9483	0.41263	T	0.010	0.03627	T	9	0.058318764	0.06838	T	0.001105	0.01312	T	0.103	0.29403	.	.	0.0138822411134	0.00435	0.0015786287646668746	0.00145	.	.	0.445909142494	0.31386	T	.	.	.	-0.17615	0.24310	T	-0.490804	0.23306	T	0.0638085464059829	0.07754	T	0.121888	0.00944	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.116	0.23500	B	.	.	0.610910	0.09792	6.559	0.89825184067637265	0.19134	0.00196	0.01131	N	AEFDBCI	0.022523	0.01136	N	-1.22540343885655	0.04634	0.2095599	-1.32633955667091	0.04093	0.1923357	0.999959091878699	0.48110	0.562547	0.31514	0	0.653731	0.59785	0	0.634913	0.45138	1	0.264475	0.05362	3	.	.	0.741	-0.249	0.12368	1.331000	0.33398	.	.	0.482000	0.22156	0.001000	0.13787	0.000000	0.08366	0.002000	0.04165	0.0:0.6566:0.0:0.3434	3.115	0.05989	987	0.02648	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.5	28820.74	164	chr3	75736920	.	C	A	28820.74	.	AC=21;AF=0.500;AN=42;BaseQRankSum=-2.130e-01;DP=3467;ExcessHet=54.0936;FS=2.025;InbreedingCoeff=-1.0000;MLEAC=21;MLEAF=0.500;MQ=55.55;MQRankSum=-8.791e+00;QD=8.35;ReadPosRankSum=0.030;SOR=0.561	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:119,47:166:99:0|1:75736920_C_A:1592,0,4791:75736920	0	0	21	0
chr3	75736928	75736928	C	T	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.G2695A:p.V899I	.	.	411	571	539	1	0	541	0.32145	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.219	B	0.007	B	.	.	1.000	N	0	N	3.47	T	-0.947	T	0.008	T	0.512	0.877	8.556	0.364	0.148	-0.065	3.729	0.112	0.00121036639884	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs74593105	0.0001	0.0002	0.0001	0.0001	0.0026	0.0001	0.0001	0.0016	0.0013	0.0008	8.267e-05	0	8.274e-05	0	0.0026	8.845e-05	0.0003	0.0004	0.0003	0.0003	0.0002	0.0003	0.0006	0.0002	0.0002	0.0004	0.0004	0.0006	0	0	0	0	0	0	0.0001	0	0.0006	0.38	0.11191	T	0.025	0.56192	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	3.32	0.06214	T	0.07	0.06138	N	0.026	0.00527	-0.9474	0.41414	T	0.008	0.02926	T	9	0.09491852	0.16914	T	0.00121	0.01583	T	0.112	0.31546	.	.	0.0138822411134	0.00435	7.206520044993825E-4	0.00066	.	.	0.389449685812	0.23592	T	.	.	.	-0.217344	0.18358	T	-0.549976	0.17329	T	0.104380803558879	0.12832	T	0.0709929	0.00518	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.082	0.08948	B	.	.	0.653467	0.10217	6.957	0.91771767316116259	0.21074	0.00105	0.00673	N	AEFDBCI	0.020476	0.00813	N	-1.22446334774296	0.04648	0.2101895	-1.31163951798627	0.04279	0.2014874	0.999941810098761	0.47345	0.562547	0.31514	0	0.653731	0.59785	0	0.634913	0.45138	1	0.264475	0.05362	3	.	.	1.29	0.364	0.15359	-0.265000	0.08671	.	.	0.482000	0.22156	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.7401:0.0:0.2599	3.729	0.08012	987	0.02648	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.5	28464.74	166	chr3	75736928	.	C	T	28464.74	.	AC=21;AF=0.500;AN=42;BaseQRankSum=2.43;DP=3516;ExcessHet=54.0936;FS=0.608;InbreedingCoeff=-1.0000;MLEAC=21;MLEAF=0.500;MQ=54.92;MQRankSum=-9.076e+00;QD=8.18;ReadPosRankSum=-5.000e-02;SOR=0.601	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:121,45:166:99:0|1:75736920_C_A:1509,0,4905:75736920	0	0	21	0
chr3	75736981	75736981	T	C	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.A2642G:p.Q881R	.	.	394	765	361	2	0	365	0.192612	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.51	T	0.02	B	0.004	B	.	.	1.000	N	0	N	5.46	T	-0.923	T	0.002	T	0.494	-0.366	2.277	-0.78	-0.138	-1.375	1.651	0.100	0.000733824032747	.	.	.	.	.	.	.	.	.	.	0.0486399	1266	26028	rs75085872	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.534	0.06935	T	0.328	0.18675	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	5.46	0.00959	T	-0.86	0.23372	N	0.037	0.01135	-0.9235	0.45070	T	0.002	0.00526	T	9	0.048223555	0.04243	T	7.34E-4	0.00491	T	0.100	0.28662	.	.	0.0138822411134	0.00435	5.567766943860148E-4	0.00051	.	.	0.401793837547	0.25319	T	.	.	.	-0.241342	0.15177	T	-0.584447	0.14150	T	0.043195366142589	0.04273	T	0.0990901	0.00735	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.225	0.45665	B	.	.	0.535899	0.09045	5.828	0.71875029535553825	0.09778	0.00552	0.02527	N	AEFDBHCI	0.039909	0.05861	N	-1.49109708187503	0.01912	0.08392857	-1.53516138275096	0.02080	0.09511815	0.999952974710247	0.48110	0.562547	0.31514	0	0.653731	0.59785	0	0.0	0.00061	3	0.264475	0.05362	3	.	.	1.92	-0.78	0.10416	-4.136000	0.00326	.	.	-1.203000	0.01359	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.2929:0.1901:0.0:0.5171	1.651	0.02605	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.5	17679.81	152	chr3	75736981	.	T	C	17679.81	.	AC=17;AF=0.500;AN=34;BaseQRankSum=-2.640e-01;DP=3565;ExcessHet=25.1139;FS=0.572;InbreedingCoeff=-0.8248;MLEAC=19;MLEAF=0.559;MQ=52.43;MQRankSum=-7.792e+00;QD=6.08;ReadPosRankSum=-1.711e+00;SOR=0.773	GT:AD:DP:GQ:PL	0/1:142,28:170:99:217,0,4258	0	0	17	4
chr3	75737012	75737012	C	T	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.G2611A:p.E871K	.	.	386	662	466	8	0	482	0.266888	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.74	T	0.049	B	0.048	B	.	.	1.000	N	-0.705	N	2.16	T	-0.957	T	0.015	T	0.509	0.585	7.159	-0.008	0.009	-2.650	2.041	0.117	0.0010545400782	.	.	.	.	.	.	.	.	.	.	0.0444521	1157	26028	rs75096310	0	6.841e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.934	0.02228	T	0.289	0.21078	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	2.16	0.19166	T	-0.66	0.19085	N	0.072	0.04547	-0.9570	0.39735	T	0.015	0.05946	T	9	0.029257268	0.01053	T	0.001055	0.01191	T	0.117	0.32689	.	.	0.0138822411134	0.00435	0.0019455304358727955	0.00180	.	.	0.341237813234	0.16623	T	.	.	.	-0.238107	0.15590	T	-0.5798	0.14563	T	0.0632113878371354	0.07664	T	0.059894	0.00434	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.124	0.26200	B	.	.	1.575632	0.20165	14.62	0.84215655419281732	0.15163	0.00232	0.01297	N	AEFDBHCI	0.027833	0.02344	N	-1.41055986614139	0.02545	0.1125291	-1.43935631045541	0.02868	0.1327212	0.999943869570154	0.47345	0.562547	0.31514	0	0.653731	0.59785	0	0.517114	0.09559	2	0.756233	0.99697	0	.	.	1.92	-0.00832	0.13329	-3.006000	0.00714	.	.	-1.281000	0.01268	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2577:0.4021:0.0:0.3403	2.041	0.03335	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.475	25498.56	170	chr3	75737012	.	C	T	25498.56	.	AC=19;AF=0.475;AN=40;BaseQRankSum=-8.280e-01;DP=3725;ExcessHet=36.0830;FS=0.550;InbreedingCoeff=-0.8529;MLEAC=19;MLEAF=0.475;MQ=53.26;MQRankSum=-5.813e+00;QD=7.76;ReadPosRankSum=-2.080e-01;SOR=0.798	GT:AD:DP:GQ:PL	0/1:140,43:183:99:527,0,4263	1	0	19	1
chr3	75737060	75737060	A	G	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.T2563C:p.S855P	.	.	379	596	534	13	0	560	0.319635	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.178	B	0.056	B	.	.	1.000	N	2.8	M	3.15	T	-1.043	T	0.033	T	0.597	1.732	11.75	1.59	1.020	-3.336	7.316	0.160	0.000628152010991	.	.	.	.	.	.	.	.	.	.	0.0548256	1427	26028	rs77715040	8.282e-06	8.895e-06	4.114e-06	1.25e-05	1.183e-05	4.42e-06	3.49e-06	5.34e-06	3.9e-06	0	0	0	0	0	0	9.948e-06	0	1.183e-05	1.314e-05	1.313e-05	1.284e-05	1.345e-05	2.939e-05	2.18e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.939e-05	0	0	0.013	0.53900	D	0.003	0.76473	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	3.15	0.07820	T	-3.1	0.63554	D	0.116	0.10483	-1.0427	0.16503	T	0.033	0.14029	T	9	0.09637886	0.17284	T	6.28E-4	0.00319	T	0.160	0.41473	.	.	0.0138822411134	0.00435	0.009052444588593512	0.00868	.	.	0.566062688828	0.48122	T	.	.	.	-0.167764	0.25573	T	-0.478758	0.24578	T	0.297621607780457	0.24905	T	0.79872	0.44372	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.550	0.66781	A	.	.	2.370076	0.30412	18.43	0.98191942080542327	0.39045	0.00784	0.03216	N	AEFDBHCI	0.085768	0.17389	N	-0.771083796564405	0.14068	0.6978022	-0.955324100233036	0.10800	0.5462925	0.999957637849619	0.48110	0.69289	0.55638	0	0.78372	0.99691	0	0.517114	0.09559	2	0.264475	0.05362	3	.	.	1.59	1.59	0.22622	-2.936000	0.00751	.	.	0.610000	0.48991	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	1.0:0.0:0.0:0.0	7.316	0.25675	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.4762	33734.43	171	chr3	75737060	.	A	G	33734.43	.	AC=20;AF=0.476;AN=42;BaseQRankSum=-2.003e+00;DP=4296;ExcessHet=43.6797;FS=0.535;InbreedingCoeff=-0.9091;MLEAC=20;MLEAF=0.476;MQ=53.79;MQRankSum=-5.923e+00;QD=8.57;ReadPosRankSum=1.41;SOR=0.754	GT:AD:DP:GQ:PL	0/1:163,41:204:99:412,0,4819	1	0	20	0
chr3	75737092	75737092	C	T	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.G2531A:p.C844Y	.	.	382	490	638	12	0	662	0.403167	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	1.0	D	1.0	D	.	.	1.000	N	3.55	H	-1.94	D	-0.050	T	0.770	D	0.423	2.226	13.40	0.518	0.202	3.803	5.69	0.402	0.00342039862449	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs139633377	6.975e-07	1.369e-06	1.383e-06	0	9.107e-07	0	0	.	.	0	0	0	0	0	0	9.107e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.015	0.61642	D	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	-1.94	0.84919	D	-7.52	0.95102	D	0.208	0.23125	-0.0500	0.81206	T	0.770	0.92171	D	9	0.30394778	0.47923	T	0.00342	0.07694	T	0.402	0.71558	.	.	0.578941962908	0.57563	0.02342305612139971	0.02294	.	.	0.721298933029	0.70236	T	.	.	.	0.128852	0.67249	D	-0.0526902	0.66838	D	0.914417432390081	0.57105	D	0.80432	0.45191	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.889	0.82003	P	.	.	2.732693	0.35776	19.99	0.91222742361264963	0.20479	0.19094	0.20525	N	AEFDBHCI	0.116885	0.22922	N	0.127215796981728	0.47735	2.995096	-0.201159305983142	0.31494	1.782947	0.999998666164745	0.74766	0.69289	0.55638	0	0.78372	0.99691	0	0.517114	0.09559	2	0.264475	0.05362	3	.	.	1.46	0.518	0.16228	4.030000	0.56971	.	.	0.487000	0.22268	0.993000	0.37899	0.000000	0.08366	0.025000	0.12405	0.0:0.7965:0.0:0.2035	5.69	0.17097	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.5	66693.74	186	chr3	75737092	.	C	T	66693.74	.	AC=21;AF=0.500;AN=42;BaseQRankSum=-3.370e+00;DP=4347;ExcessHet=54.0936;FS=3.268;InbreedingCoeff=-1.0000;MLEAC=21;MLEAF=0.500;MQ=55.30;MQRankSum=-9.287e+00;QD=15.47;ReadPosRankSum=0.780;SOR=0.945	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:150,58:208:99:0|1:75737092_C_T:1984,0,6074:75737092	0	0	21	0
chr3	75737094	75737094	T	A	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.A2529T:p.R843S	.	.	386	488	636	12	0	660	0.403423	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.17	T	0.0	B	0.003	B	.	.	0.811	N	0.185	N	2.5	T	-0.966	T	0.015	T	0.48	0.761	8.026	-1.65	-0.344	-3.350	0.098	0.187	0.00139168871644	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs149660902	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.487	0.08067	T	0.021	0.58089	D	.	.	.	.	.	.	.	.	.	.	1	0.29002	N	.	.	.	2.5	0.14408	T	0.12	0.05604	N	0.171	0.18239	-0.9656	0.38092	T	0.015	0.05849	T	9	0.041348934	0.02782	T	0.001392	0.02037	T	0.187	0.46274	.	.	0.0138822411134	0.00435	0.003970010212323737	0.00371	.	.	0.350422680378	0.17984	T	.	.	.	-0.230087	0.16639	T	-0.568281	0.15607	T	0.0363333960522166	0.03039	T	0.50295	0.15803	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.364	0.57473	A	.	.	0.927565	0.13027	9.531	0.78772853777929608	0.12446	0.00288	0.01547	N	AEFDBHCI	0.032938	0.03815	N	-1.56864543804847	0.01428	0.06230873	-1.65490256639135	0.01351	0.06097677	0.999968767302643	0.48965	0.69289	0.55638	0	0.78372	0.99691	0	0.517114	0.09559	2	0.264475	0.05362	3	.	.	1.46	-1.65	0.07849	-1.617000	0.02154	.	.	-1.209000	0.01353	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.2432:0.1819:0.2457:0.3291	0.098	0.00042	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.5	66461.74	187	chr3	75737094	.	T	A	66461.74	.	AC=21;AF=0.500;AN=42;BaseQRankSum=-3.054e+00;DP=4329;ExcessHet=54.0936;FS=4.136;InbreedingCoeff=-1.0000;MLEAC=21;MLEAF=0.500;MQ=55.41;MQRankSum=-9.552e+00;QD=15.42;ReadPosRankSum=0.880;SOR=0.976	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:150,58:208:99:0|1:75737092_C_T:1984,0,6074:75737092	0	0	21	0
chr3	75737105	75737105	T	A	exonic	ZNF717	.	stopgain	ZNF717:NM_001128223:exon5:c.A2518T:p.K840X	.	.	386	483	643	10	0	663	0.406998	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	.	.	.	.	.	.	1.000	D	.	.	.	.	.	.	.	.	.	6.506	37	1.59	1.020	2.954	7.316	.	.	.	.	.	.	.	.	.	.	.	.	0.0502536	1308	26028	rs113251431	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.032	0.00825	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.493707	0.94111	D	0.471	0.94033	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.648710	0.92795	33	0.9890268774789388	0.48217	0.46426	0.27757	N	AEFDBHCI	0.042646	0.06644	N	0.188175099212538	0.50632	3.251287	-0.154561253355241	0.33234	1.898897	0.999999961661622	0.74766	0.69289	0.55638	0	0.78372	0.99691	0	0.517114	0.09559	2	0.264475	0.05362	3	.	.	1.59	1.59	0.22622	3.121000	0.50131	.	.	0.539000	0.25131	1.000000	0.71638	0.000000	0.08366	0.011000	0.09372	0.0:0.0:0.0:1.0	7.316	0.25675	987	0.02648	Zinc finger C2H2-type	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	64403.74	176	chr3	75737105	.	T	A	64403.74	.	AC=21;AF=0.500;AN=42;BaseQRankSum=-3.795e+00;DP=4269;ExcessHet=54.0936;FS=5.083;InbreedingCoeff=-1.0000;MLEAC=21;MLEAF=0.500;MQ=55.87;MQRankSum=-1.015e+01;QD=15.17;ReadPosRankSum=0.373;SOR=1.023	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:145,55:200:99:0|1:75737092_C_T:1873,0,5923:75737092	0	0	21	0
chr3	75737127	75737127	A	C	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.T2496G:p.H832Q	.	.	384	545	585	8	0	601	0.355411	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.738	P	0.672	P	.	.	1.000	N	3.595	H	-2.18	D	0.069	D	0.747	D	0.504	1.222	9.956	0.372	0.124	0.275	4.797	0.462	0.0028455442474	.	.	.	.	.	.	.	.	.	.	0.064008	1666	26028	rs79811623	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	-2.18	0.86722	D	-5.94	0.89093	D	0.203	0.22486	0.069	0.83596	D	0.747	0.91362	D	9	0.25438643	0.42818	T	0.002846	0.05956	T	0.462	0.75889	.	.	0.358340041657	0.35441	0.0053718602075851244	0.00508	.	.	0.740122795105	0.72990	T	.	.	.	0.0996688	0.64257	D	-0.0946091	0.63811	T	0.721620917320251	0.41781	D	0.784422	0.42203	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.946	0.86443	P	.	.	1.863242	0.23667	16.11	0.75650377613460507	0.11157	0.04138	0.09621	N	AEFDBHCI	0.080253	0.16223	N	-0.306900910275906	0.28885	1.597038	-0.631394962146373	0.18688	0.9994579	0.99995045990878	0.48110	0.632932	0.41330	0	0.666794	0.63253	0	0.002978	0.00130	3	0.756233	0.99697	0	.	.	1.59	0.372	0.15405	0.061000	0.14242	.	.	0.575000	0.29119	0.037000	0.20830	0.000000	0.08366	0.001000	0.02609	0.8077:0.0:0.1923:0.0	4.797	0.12647	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	54907.74	170	chr3	75737127	.	A	C	54907.74	.	AC=21;AF=0.500;AN=42;BaseQRankSum=-1.246e+00;DP=4011;ExcessHet=54.0936;FS=5.236;InbreedingCoeff=-1.0000;MLEAC=21;MLEAF=0.500;MQ=56.48;MQRankSum=-1.090e+01;QD=13.78;ReadPosRankSum=0.018;SOR=1.116	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:143,49:192:99:0|1:75737092_C_T:1627,0,5857:75737092	0	0	21	0
chr3	75737164	75737172	CTACATTCT	-	exonic	ZNF717	.	nonframeshift deletion	ZNF717:NM_001128223:exon5:c.2451_2459del:p.E818_R820del	.	.	392	660	463	7	0	477	0.265442	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.012256	319	26028	rs66703079	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	31686.7	129	chr3	75737163	.	CCTACATTCT	C	31686.7	.	AC=21;AF=0.500;AN=42;BaseQRankSum=1.49;DP=3384;ExcessHet=54.0936;FS=14.269;InbreedingCoeff=-1.0000;MLEAC=21;MLEAF=0.500;MQ=56.84;MQRankSum=-1.107e+01;QD=9.48;ReadPosRankSum=-6.730e-01;SOR=1.597	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:133,25:158:99:0|1:75737092_C_T:649,0,5509:75737092	0	0	21	0
chr3	75737519	75737519	G	A	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.C2104T:p.P702S	.	.	378	414	722	8	0	738	0.471264	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06	T	0.588	P	0.118	B	.	.	1.000	N	0.78	N	3.45	T	-0.962	T	0.011	T	0.402	2.344	13.80	0.281	0.088	6.618	6.406	0.231	0.0020371222204	.	.	.	.	.	.	.	.	.	.	0.0847549	2206	26028	rs80089603	0.0009	0.0009	0.0010	0.0008	0.0241	0.0009	0.0009	0.0227	0.0221	0.0241	0.0014	0.0065	0.0009	0	0.0016	6.293e-05	0.0031	0.0001	0.0071	0.0074	0.0072	0.0070	0.0235	0.0067	0.0066	0.0223	0.0218	0.0235	0	0.0024	0.0084	0.0025	0	0.0034	4.409e-05	0.0071	0.0006	0.014	0.53172	D	0.014	0.62352	D	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	3.28	0.06523	T	-2.65	0.56787	D	0.082	0.05799	-0.9616	0.38877	T	0.011	0.04274	T	9	0.0059270263	0.00133	T	0.002037	0.03721	T	0.231	0.53208	.	.	0.0297737177859	0.01360	0.030845822720570865	0.03033	.	.	0.227284103632	0.01773	T	.	.	.	-0.138909	0.30065	T	-0.437309	0.29111	T	0.612736403942108	0.36911	D	0.140186	0.01129	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.121	0.25166	B	.	.	2.134754	0.27180	17.37	0.9793642767632269	0.36999	0.50764	0.28739	D	AEFDBHCI	0.281183	0.39482	N	-0.656716686745216	0.17265	0.8869353	-0.759493038371137	0.15489	0.8148735	0.999998040796218	0.74766	0.460665	0.09802	0	0.601575	0.49859	0	0.575934	0.27490	0	0.756233	0.99697	0	.	.	1.27	0.281	0.14938	5.209000	0.65041	.	.	0.560000	0.28382	1.000000	0.71638	0.000000	0.08366	0.002000	0.04165	0.0:0.0:0.7085:0.2915	6.406	0.20867	987	0.02648	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.5	84334.74	182	chr3	75737519	.	G	A	84334.74	.	AC=21;AF=0.500;AN=42;BaseQRankSum=1.22;DP=4534;ExcessHet=54.0936;FS=3.213;InbreedingCoeff=-1.0000;MLEAC=21;MLEAF=0.500;MQ=56.20;MQRankSum=-6.820e+00;QD=19.56;ReadPosRankSum=0.348;SOR=0.722	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:84,78:162:99:.:.:2880,0,3140	0	0	21	0
chr3	75737590	75737590	A	G	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.T2033C:p.M678T	.	.	380	344	789	9	0	807	0.539799	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	T	0.011	B	0.007	B	.	.	1.000	N	-0.05	N	3.17	T	-0.913	T	0.010	T	0.467	-0.210	2.980	-2.35	-0.437	-5.897	5.111	0.064	0.000918803670254	.	.	.	.	.	.	.	.	.	.	0.0043031	112	26028	rs79103664	2.155e-06	3.424e-06	1.417e-06	2.914e-06	1.862e-06	5.7e-07	1.6e-07	3.1e-07	1.2e-07	0	0	0	0	0	0	1.862e-06	1.736e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.577	0.06049	T	0.136	0.34009	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	3.17	0.07599	T	0.82	0.01813	N	0.035	0.01004	-0.9135	0.46415	T	0.010	0.03492	T	9	0.047419846	0.04058	T	9.19E-4	0.00889	T	0.064	0.18567	.	.	0.0138822411134	0.00435	0.020703910282481648	0.02023	.	.	0.269451141357	0.06069	T	.	.	.	-0.256687	0.13292	T	-0.606489	0.12271	T	0.0260274478999564	0.01409	T	0.0606939	0.00442	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.140	0.30634	B	.	.	-0.571595	0.01651	0.116	0.41969334367691202	0.03062	0.00342	0.01773	N	AEFDBHCI	0.055927	0.10297	N	-1.5270329997039	0.01674	0.07322606	-1.61933844482173	0.01542	0.06986147	0.999968620109732	0.48965	0.475973	0.10046	0	0.601575	0.49859	0	0.486962	0.07600	0	0.264475	0.05362	3	.	.	1.57	-2.35	0.06302	-4.932000	0.00197	.	.	-1.902000	0.00523	0.000000	0.06391	0.000000	0.08366	0.008000	0.08271	0.5391:0.0:0.0:0.4609	5.111	0.14145	987	0.02648	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.5	93431.74	214	chr3	75737590	.	A	G	93431.74	.	AC=21;AF=0.500;AN=42;BaseQRankSum=-9.450e-01;DP=4965;ExcessHet=54.0936;FS=1.090;InbreedingCoeff=-1.0000;MLEAC=21;MLEAF=0.500;MQ=53.17;MQRankSum=-1.228e+01;QD=19.03;ReadPosRankSum=0.838;SOR=0.797	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:112,91:203:99:0|1:75737590_A_G:3435,0,4394:75737590	0	0	21	0
chr3	75737608	75737608	T	C	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.A2015G:p.K672R	.	.	399	323	791	9	0	809	0.556014	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.003	B	0.003	B	.	.	1.000	N	-0.66	N	3.16	T	-0.950	T	0.008	T	0.327	0.845	8.413	-3.14	-1.861	-0.144	4.750	0.059	0.003971670348	.	.	.	.	.	.	.	.	.	.	0.0466805	1215	26028	rs75759940	4.311e-06	4.109e-06	2.835e-06	5.828e-06	5.588e-06	1.55e-06	1.02e-06	2.01e-06	1.32e-06	0	0	0	0	0	0	5.588e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.027	0.46513	D	0.001	0.83351	D	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	3.16	0.07711	T	-0.9	0.24244	N	0.034	0.00942	-0.9500	0.40972	T	0.008	0.02926	T	9	0.049818516	0.04624	T	0.003972	0.09400	T	0.059	0.16972	.	.	0.0138822411134	0.00435	0.005655336952012324	0.00535	.	.	0.307848095894	0.11582	T	.	.	.	-0.255831	0.13391	T	-0.60526	0.12373	T	0.0589383841193725	0.07000	T	0.19898	0.02226	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.091	0.13268	B	.	.	1.223152	0.16170	12.37	0.86139736186920213	0.16339	0.00629	0.02767	N	AEDBHCI	0.051131	0.09005	N	-1.64554763938136	0.01054	0.04572823	-1.67922087383407	0.01232	0.05551315	0.99998526063166	0.51787	0.475973	0.10046	0	0.601575	0.49859	0	0.486962	0.07600	0	0.264475	0.05362	3	.	.	1.57	-3.14	0.04928	-0.248000	0.08872	.	.	-1.039000	0.01670	0.792000	0.29619	0.000000	0.08366	0.001000	0.02609	0.0:0.4304:0.3244:0.2451	4.750	0.12430	987	0.02648	Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.5	99264.74	227	chr3	75737608	.	T	C	99264.74	.	AC=21;AF=0.500;AN=42;BaseQRankSum=0.102;DP=5151;ExcessHet=54.0936;FS=0.516;InbreedingCoeff=-1.0000;MLEAC=21;MLEAF=0.500;MQ=52.90;MQRankSum=-1.341e+01;QD=19.33;ReadPosRankSum=0.322;SOR=0.755	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:119,99:218:99:0|1:75737590_A_G:3799,0,4699:75737590	0	0	21	0
chr3	75737622	75737622	T	A	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.A2001T:p.R667S	.	.	390	339	783	10	0	803	0.542201	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.89	P	0.451	P	.	.	1.000	N	2.965	M	2.96	T	-1.054	T	0.045	T	0.468	1.519	11.03	0.405	0.127	-1.802	5.213	0.148	0.00187641351265	.	.	.	.	.	.	.	.	.	.	0.0503688	1311	26028	rs76175438	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	0.49613	D	0.042	0.50226	D	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	2.96	0.09542	T	-3.88	0.72710	D	0.189	0.20660	-1.0544	0.13198	T	0.045	0.19478	T	9	0.11718443	0.22126	T	0.001876	0.03272	T	0.148	0.39182	.	.	0.0138822411134	0.00435	0.02830632002622666	0.02780	.	.	0.34867143631	0.17727	T	.	.	.	-0.180088	0.23722	T	-0.496461	0.22715	T	0.343506299687112	0.26762	T	0.413359	0.10763	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.582	0.68127	P	.	.	2.295364	0.29365	18.10	0.84579906210778943	0.15375	0.01716	0.05441	N	AEFDBHCI	0.093535	0.18923	N	-0.671626443351997	0.16833	0.8611102	-0.960126716317775	0.10688	0.5399544	0.999967844770143	0.48965	0.475973	0.10046	0	0.601575	0.49859	0	0.486962	0.07600	0	0.264475	0.05362	3	.	.	1.71	0.405	0.15579	-1.876000	0.01725	.	.	0.551000	0.28136	0.000000	0.06391	0.000000	0.08366	0.008000	0.08271	0.2583:0.0:0.0:0.7417	5.213	0.14647	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.5	101560.74	248	chr3	75737622	.	T	A	101560.74	.	AC=21;AF=0.500;AN=42;BaseQRankSum=-2.388e+00;DP=5296;ExcessHet=54.0936;FS=0.000;InbreedingCoeff=-1.0000;MLEAC=21;MLEAF=0.500;MQ=53.40;MQRankSum=-1.311e+01;QD=19.29;ReadPosRankSum=-1.560e-01;SOR=0.713	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:124,99:223:99:0|1:75737590_A_G:3784,0,4909:75737590	0	0	21	0
chr3	75737651	75737651	G	A	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.C1972T:p.R658C	.	.	400	343	772	7	0	786	0.533967	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	T	0.994	D	0.387	B	.	.	1.000	N	1.355	L	5.42	T	-0.871	T	0.003	T	0.447	0.648	7.478	0.774	0.291	-3.025	2.500	0.133	0.00153184105349	.	.	.	.	.	.	.	.	.	.	0.0285462	743	26028	rs77826574	6.031e-05	7.327e-05	6.658e-05	5.386e-05	0.0004	4.978e-05	4.582e-05	9.298e-05	6.561e-05	3.182e-05	0.0002	0	5.661e-05	0	0.0004	5.584e-05	0.0001	7.603e-05	5.383e-05	7.906e-05	6.569e-05	4.138e-05	0.0002	2.611e-05	1.869e-05	1.982e-05	1.131e-05	5.043e-05	0	6.658e-05	0	0	0	0	5.922e-05	0	0.0002	0.067	0.35918	T	0.169	0.30534	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	5.42	0.00999	T	-3.07	0.63207	D	0.105	0.08925	-0.8711	0.50446	T	0.003	0.01026	T	9	0.085398704	0.14414	T	0.001532	0.02394	T	0.133	0.36157	.	.	0.0482279557977	0.04254	0.024591376914232316	0.02410	.	.	0.41199272871	0.26732	T	.	.	.	-0.203544	0.20296	T	-0.530154	0.19270	T	0.177544683043135	0.19078	T	0.0464954	0.00331	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.238	0.47195	B	.	.	1.962068	0.24926	16.58	0.86866792728357911	0.16827	0.00357	0.01833	N	AEFDBHCI	0.053804	0.09728	N	-0.680381306712077	0.16582	0.8460908	-0.915126681668579	0.11737	0.5997874	0.999961843561367	0.48965	0.460665	0.09802	0	0.546412	0.12157	0	0.575934	0.27490	0	0.756233	0.99697	0	.	.	1.71	0.774	0.17665	-0.426000	0.07076	.	.	-0.244000	0.07312	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.185:0.0:0.5297:0.2853	2.500	0.04348	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.5	104187.74	246	chr3	75737651	.	G	A	104187.74	.	AC=21;AF=0.500;AN=42;BaseQRankSum=1.82;DP=5303;ExcessHet=54.0936;FS=0.000;InbreedingCoeff=-1.0000;MLEAC=21;MLEAF=0.500;MQ=54.27;MQRankSum=-1.184e+01;QD=19.78;ReadPosRankSum=-8.750e-01;SOR=0.696	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:114,98:212:99:0|1:75737590_A_G:3772,0,4492:75737590	0	0	21	0
chr3	75737676	75737676	A	T	exonic	ZNF717	.	stopgain	ZNF717:NM_001128223:exon5:c.T1947A:p.C649X	.	.	512	238	765	7	0	779	0.620717	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	.	.	.	.	.	.	1.000	D	.	.	.	.	.	.	.	.	.	6.220	37	1.71	1.073	0.059	3.984	.	.	.	.	.	.	.	.	.	.	.	.	0.0560934	1460	26028	rs79635065	0	6.854e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.025	0.00485	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.356406	0.86974	D	0.274176	0.86805	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.913720	0.80871	27.4	0.97584058415749686	0.34753	0.02032	0.06091	N	AEFDBHCI	0.117194	0.22969	N	-0.0787027714682291	0.38328	2.243117	-0.47253526279424	0.22914	1.246949	0.999961225158915	0.48965	0.460665	0.09802	0	0.546412	0.12157	0	0.575934	0.27490	0	0.756233	0.99697	0	.	.	1.71	1.71	0.23429	0.625000	0.24171	.	.	0.517000	0.23534	0.432000	0.26424	0.000000	0.08366	0.002000	0.04165	0.6786:0.0:0.0:0.3214	3.984	0.08997	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.5	99202.74	235	chr3	75737676	.	A	T	99202.74	.	AC=21;AF=0.500;AN=42;BaseQRankSum=2.21;DP=4967;ExcessHet=54.0936;FS=1.090;InbreedingCoeff=-1.0000;MLEAC=21;MLEAF=0.500;MQ=54.83;MQRankSum=-9.816e+00;QD=20.18;ReadPosRankSum=-1.028e+00;SOR=0.636	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:118,103:221:99:0|1:75737590_A_G:3970,0,4645:75737590	0	0	21	0
chr3	75737840	75737840	C	T	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.G1783A:p.E595K	.	.	370	419	727	6	0	739	0.468611	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	0.87	P	0.559	P	.	.	1.000	N	1.11	L	3.2	T	-1.016	T	0.024	T	0.38	2.298	13.64	0.993	0.389	-0.570	6.443	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	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.475	53271.84	236	chr3	75737840	.	C	T	53271.84	.	AC=19;AF=0.475;AN=40;BaseQRankSum=-1.867e+00;DP=4970;ExcessHet=36.0830;FS=8.679;InbreedingCoeff=-0.8667;MLEAC=20;MLEAF=0.500;MQ=58.83;MQRankSum=-4.939e+00;QD=12.52;ReadPosRankSum=-2.000e-01;SOR=0.941	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:154,72:226:99:0|1:75737814_C_T:2560,0,5968:75737814	1	0	19	1
chr3	75737881	75737881	T	C	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.A1742G:p.H581R	.	.	356	594	572	0	0	572	0.325	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.035	B	0.038	B	.	.	1.000	N	4.015	H	-2.18	D	0.078	D	0.691	D	0.467	1.068	9.361	0.513	0.158	2.178	5.415	0.389	0.00618583320825	.	.	.	.	.	.	.	.	.	.	0.0154833	403	26028	rs76729736	5.018e-06	5.475e-06	2.829e-06	7.267e-06	8.44e-05	2.09e-06	1.34e-06	2.237e-05	1.22e-05	3.194e-05	0	0	8.44e-05	0	0	0	0	3.792e-05	1.313e-05	1.312e-05	1.284e-05	1.342e-05	0.0002	2.18e-06	8.2e-07	.	.	2.405e-05	0	0	0	0.0002	0	0	0	0	0	0.031	0.45039	D	0.023	0.57104	D	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	-2.18	0.86722	D	-7.28	0.94430	D	0.235	0.26475	0.078	0.83778	D	0.691	0.89323	D	9	0.15374556	0.29014	T	0.006186	0.16200	T	0.389	0.70521	.	.	0.26547132957	0.26150	0.029317279208247043	0.02880	.	.	0.705122470856	0.67885	T	.	.	.	0.0863372	0.62775	D	-0.113759	0.62311	T	0.349910879008873	0.27015	T	0.751425	0.37327	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.804	0.77471	P	.	.	1.529838	0.19634	14.36	0.57541806715571575	0.05792	0.27383	0.23262	N	AEFDBHCIJ	0.135649	0.25605	N	-0.602165132605538	0.18879	0.9837148	-0.767266515667793	0.15298	0.8039007	0.999994431577383	0.74766	0.566229	0.32551	0	0.615513	0.52658	0	0.486962	0.07600	0	0.264475	0.05362	3	.	.	1.76	0.513	0.16200	2.229000	0.42634	.	.	-0.220000	0.07995	1.000000	0.71638	0.067000	0.22148	0.002000	0.04165	0.0:0.1678:0.0:0.8322	5.415	0.15671	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.5	26024.74	185	chr3	75737881	.	T	C	26024.74	.	AC=21;AF=0.500;AN=42;BaseQRankSum=-1.184e+00;DP=4449;ExcessHet=54.0936;FS=19.179;InbreedingCoeff=-1.0000;MLEAC=21;MLEAF=0.500;MQ=58.45;MQRankSum=-7.835e+00;QD=6.19;ReadPosRankSum=-4.722e+00;SOR=1.600	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:161,36:197:99:0|1:75737881_T_C:800,0,6453:75737881	0	0	21	0
chr3	75737891	75737891	-	AAAT	exonic	ZNF717	.	frameshift insertion	ZNF717:NM_001128223:exon5:c.1731_1732insATTT:p.L578Ifs*16	.	.	353	691	477	1	0	479	0.257389	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0004995	13	26028	rs369928577	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	19918.7	193	chr3	75737891	.	G	GAAAT	19918.7	.	AC=21;AF=0.500;AN=42;BaseQRankSum=0.779;DP=4144;ExcessHet=54.0936;FS=22.520;InbreedingCoeff=-1.0000;MLEAC=21;MLEAF=0.500;MQ=58.28;MQRankSum=-8.489e+00;QD=4.94;ReadPosRankSum=-4.220e+00;SOR=2.002	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:158,26:184:99:0|1:75737881_T_C:572,0,6481:75737881	0	0	21	0
chr3	75737893	75737893	-	CTT	exonic	ZNF717	.	stopgain	ZNF717:NM_001128223:exon5:c.1729_1730insAAG:p.F577_P914del	.	.	356	680	485	1	0	487	0.263671	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0023052	60	26028	rs373780316	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	18824.7	191	chr3	75737893	.	A	ACTT	18824.7	.	AC=21;AF=0.500;AN=42;BaseQRankSum=0.081;DP=4075;ExcessHet=54.0936;FS=23.299;InbreedingCoeff=-1.0000;MLEAC=21;MLEAF=0.500;MQ=58.20;MQRankSum=-8.682e+00;QD=4.74;ReadPosRankSum=-3.534e+00;SOR=2.048	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:155,23:178:99:0|1:75737881_T_C:499,0,6424:75737881	0	0	21	0
chr3	75738008	75738008	C	T	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.G1615A:p.E539K	.	.	374	899	248	1	0	250	0.12207	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08	T	0.236	B	0.014	B	.	.	1.000	N	0.635	N	3.2	T	-0.977	T	0.011	T	0.371	1.043	9.260	-3.59	-1.049	-1.278	0.971	0.040	0.00103100052401	.	.	0.0035	0	0	0	0	0.0041	0	0.0070	0.0381512	993	26028	rs77322475	0.0003	0.0005	0.0003	0.0004	0.0006	0.0003	0.0003	0.0005	0.0004	0.0002	3.974e-05	0.0002	0	2.459e-05	0	0.0004	0.0002	0.0006	0.0003	0.0004	0.0003	0.0004	0.0054	0.0003	0.0002	0.0038	0.0032	0.0001	0	0	0.0003	0	9.43e-05	0	0.0002	0.0009	0.0054	0.057	0.37966	T	0.059	0.45961	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	3.2	0.07236	T	-2.57	0.55501	D	0.164	0.17278	-0.9770	0.35683	T	0.011	0.04042	T	9	0.006899923	0.00157	T	0.001031	0.01144	T	0.040	0.10527	.	.	0.0138822411134	0.00435	0.004688527706481307	0.00441	.	.	0.455887436867	0.32748	T	.	.	.	-0.247215	0.14443	T	-0.592883	0.13417	T	0.0202189277908029	0.00722	T	0.157184	0.01392	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.163	0.35931	B	.	.	0.663217	0.10314	7.047	0.74861509555931272	0.10855	0.00293	0.01568	N	AEFDBHCIJ	0.019046	0.00627	N	-1.65826808888533	0.01001	0.04337943	-1.78840371790065	0.00797	0.0355687	0.999985886557565	0.51787	0.566229	0.32551	0	0.615513	0.52658	0	0.575934	0.27490	0	0.264475	0.05362	3	.	.	1.8	-3.59	0.04290	-1.723000	0.01966	.	.	-1.085000	0.01553	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.1742:0.3948:0.172:0.259	0.971	0.01326	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.4167	9964.28	257	chr3	75738008	.	C	T	9964.28	.	AC=15;AF=0.417;AN=36;BaseQRankSum=-1.381e+00;DP=4529;ExcessHet=17.4423;FS=5.547;InbreedingCoeff=-0.6412;MLEAC=16;MLEAF=0.444;MQ=57.21;MQRankSum=-1.159e+01;QD=2.93;ReadPosRankSum=3.26;SOR=1.304	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:190,34:224:99:0|1:75737994_T_C:844,0,7774:75737994	3	0	15	3
chr3	75738053	75738053	C	A	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.G1570T:p.V524F	.	.	359	1071	92	0	0	92	0.0411817	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.34	T	0.888	P	0.346	B	.	.	1.000	N	1.18	L	3.18	T	-1.017	T	0.014	T	0.416	0.583	7.147	-3.58	-1.068	-1.364	4.138	0.074	0.00104650146877	.	.	.	.	.	.	.	.	.	.	.	.	.	rs75063165	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.049	0.39820	D	0.157	0.31730	T	.	.	.	.	.	.	.	.	.	.	1	0.19072	N	.	.	.	3.18	0.07478	T	-2.6	0.55983	D	0.148	0.15046	-1.0173	0.24592	T	0.014	0.05753	T	9	0.11586878	0.21842	T	0.001047	0.01191	T	0.074	0.21613	.	.	0.0138822411134	0.00435	0.0034182461744823667	0.00319	.	.	0.563414692879	0.47750	T	.	.	.	-0.246862	0.14487	T	-0.592376	0.13461	T	0.28954122460075	0.24571	T	0.0661934	0.00482	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.411	0.60172	A	.	.	0.533719	0.09024	5.806	0.95230003730299473	0.26460	0.00215	0.01220	N	AEFDBHCIJ	0.026943	0.02113	N	-1.1142521379857	0.06388	0.2939498	-1.36117125995018	0.03676	0.1719606	0.99999365082094	0.74766	0.566229	0.32551	0	0.615513	0.52658	0	0.575934	0.27490	0	0.264475	0.05362	3	.	.	1.79	-3.58	0.04303	-3.170000	0.00633	.	.	-2.136000	0.00379	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.2892:0.3399:0.3708	4.138	0.09647	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.3611	6970.11	234	chr3	75738053	.	C	A	6970.11	.	AC=13;AF=0.361;AN=36;BaseQRankSum=-2.270e+00;DP=4323;ExcessHet=11.8493;FS=4.208;InbreedingCoeff=-0.5294;MLEAC=14;MLEAF=0.389;MQ=57.15;MQRankSum=-1.006e+01;QD=2.47;ReadPosRankSum=-1.315e+00;SOR=1.290	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:201,27:228:99:0|1:75738051_G_T:529,0,8359:75738051	5	0	13	3
chr3	75738071	75738071	A	G	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.T1552C:p.C518R	.	.	356	1145	20	0	1	21	0.00865801	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.56	T	0.0	B	0.0	B	.	.	1.000	N	-0.87	N	3.21	T	-0.915	T	0.007	T	0.332	-1.903	0.008	-0.593	-0.086	-0.759	2.786	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	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.2	2892.1	214	chr3	75738071	.	A	G	2892.1	.	AC=8;AF=0.200;AN=40;BaseQRankSum=-9.740e-01;DP=3983;ExcessHet=3.5521;FS=8.270;InbreedingCoeff=-0.2377;MLEAC=8;MLEAF=0.200;MQ=57.37;MQRankSum=-1.015e+01;QD=1.67;ReadPosRankSum=-1.907e+00;SOR=1.673	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:195,14:209:1:0|1:75738051_G_T:1,0,8146:75738051	12	0	8	1
chr3	75738074	75738074	G	A	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.C1549T:p.R517C	.	.	352	1156	14	0	0	14	0.00601892	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.15	T	0.0	B	0.001	B	.	.	1.000	N	1.21	L	3.11	T	-0.989	T	0.016	T	0.343	0.147	4.790	-3.58	-1.677	-0.063	5.171	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	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.2	1932.26	212	chr3	75738074	.	G	A	1932.26	.	AC=8;AF=0.200;AN=40;BaseQRankSum=-9.700e-02;DP=3886;ExcessHet=3.5521;FS=8.966;InbreedingCoeff=-0.2654;MLEAC=8;MLEAF=0.200;MQ=57.53;MQRankSum=-9.911e+00;QD=1.13;ReadPosRankSum=-2.333e+00;SOR=1.869	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:190,14:204:16:0|1:75738051_G_T:16,0,7936:75738051	12	0	8	1
chr3	75738077	75738077	A	C	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.T1546G:p.F516V	.	.	351	1158	13	0	0	13	0.00558179	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.999	D	.	.	1.000	N	3.56	H	0.99	T	-0.796	T	0.314	T	0.499	2.958	15.86	1.91	1.185	4.477	7.900	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	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.2	1551.64	205	chr3	75738077	.	A	C	1551.64	.	AC=8;AF=0.200;AN=40;BaseQRankSum=-1.917e+00;DP=3863;ExcessHet=3.5521;FS=11.803;InbreedingCoeff=-0.2553;MLEAC=8;MLEAF=0.200;MQ=57.57;MQRankSum=-9.670e+00;QD=0.92;ReadPosRankSum=-2.700e+00;SOR=1.968	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:188,14:202:22:0|1:75738051_G_T:22,0,7852:75738051	12	0	8	1
chr3	75739165	75739165	C	T	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.G458A:p.G153E	.	.	426	716	379	1	0	381	0.210149	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	T	0.981	D	0.792	P	.	.	1.000	N	1.63	L	1.0	T	-1.005	T	0.128	T	0.5	0.800	8.209	0.059	0.039	0.285	5.008	0.131	0.00294703274024	.	.	.	.	.	.	.	.	.	.	0.0484862	1262	26028	rs79165653	3.574e-06	3.42e-06	1.411e-06	5.798e-06	0.0001	1.05e-06	7.6e-07	5.451e-05	3.56e-05	0	0	0	0.0001	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.197	0.20607	T	0.074	0.42976	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.0	0.41392	T	-2.66	0.56945	D	0.098	0.07949	-1.0050	0.28457	T	0.128	0.43625	T	9	0.097314626	0.17517	T	0.002947	0.06280	T	0.131	0.35738	.	.	0.0401082797425	0.02173	0.0035025799895356665	0.00327	.	.	0.341039121151	0.16594	T	.	.	.	-0.112133	0.34416	T	-0.398848	0.33517	T	0.425942718982697	0.29910	T	0.179282	0.01775	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.205	0.43032	B	.	.	0.873037	0.12461	8.992	0.65778472644257657	0.07869	0.01043	0.03895	N	AEFDBCI	.	.	.	-0.639186145779198	0.17776	0.9175853	-0.902737289243841	0.12029	0.6164352	0.999962026466227	0.48965	0.69289	0.55638	0	0.636889	0.57051	0	0.517114	0.09559	2	0.264475	0.05362	3	.	.	2.07	0.059	0.13643	0.766000	0.26225	.	.	0.439000	0.21057	0.011000	0.18532	0.000000	0.08366	0.002000	0.04165	0.0:0.638:0.2172:0.1447	5.008	0.13643	987	0.02648	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.4524	5856.69	126	chr3	75739165	.	C	T	5856.69	.	AC=19;AF=0.452;AN=42;BaseQRankSum=-8.800e-02;DP=2841;ExcessHet=36.0830;FS=16.853;InbreedingCoeff=-0.8321;MLEAC=19;MLEAF=0.452;MQ=57.03;MQRankSum=-7.844e+00;QD=2.33;ReadPosRankSum=-1.424e+00;SOR=1.267	GT:AD:DP:GQ:PL	0/1:137,20:157:99:139,0,4233	2	0	19	0
chr3	75739283	75739283	G	T	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.C340A:p.Q114K	.	.	430	419	666	7	0	680	0.447958	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.71	T	0.588	P	0.118	B	.	.	1.000	N	0.805	L	0.91	T	-1.039	T	0.052	T	0.501	-1.711	0.011	-0.13	-0.008	-0.013	8.996	0.115	0.00164498502106	.	.	.	.	.	.	.	.	.	.	0.0684647	1782	26028	rs4011155	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.979	0.02012	T	0.602	0.07894	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	0.91	0.44856	T	-0.17	0.09627	N	0.04	0.01347	-1.0394	0.17495	T	0.052	0.22269	T	9	0.04538721	0.03603	T	0.001645	0.02676	T	0.115	0.32236	.	.	0.0138822411134	0.00435	0.01612756142273845	0.01568	.	.	0.421879798174	0.28096	T	.	.	.	-0.0408301	0.45825	T	-0.296426	0.45101	T	0.177929786236283	0.19104	T	0.340666	0.07366	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.205	0.43102	B	.	.	0.246741	0.06266	2.719	0.63846773733670814	0.07333	0.00471	0.02257	N	AEFDBCI	.	.	.	-0.990502388475167	0.08805	0.414299	-1.12680793005723	0.07191	0.3488778	0.99994075275372	0.47345	0.0	0.00013	3	0.636889	0.57051	0	0.002978	0.00130	3	0.264475	0.05362	3	.	.	2.13	-0.13	0.12839	0.783000	0.26463	.	.	0.493000	0.22426	0.008000	0.17931	0.055000	0.21918	0.006000	0.07323	0.0:0.4319:0.5681:0.0	8.996	0.35214	987	0.02648	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.5	13994.74	75	chr3	75739283	.	G	T	13994.74	.	AC=21;AF=0.500;AN=42;BaseQRankSum=-1.485e+00;DP=2154;ExcessHet=54.0936;FS=0.000;InbreedingCoeff=-1.0000;MLEAC=21;MLEAF=0.500;MQ=54.74;MQRankSum=-4.923e+00;QD=6.68;ReadPosRankSum=0.840;SOR=0.744	GT:AD:DP:GQ:PL	0/1:68,29:97:99:527,0,1979	0	0	21	0
chr3	98133457	98133460	CCCC	-	exonic	OR5H1	.	frameshift deletion	OR5H1:NM_001005338:exon1:c.760_763del:p.P254Ffs*31,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001	0.0036	0.0002	0.0001	0.0002	0.0001	0.0001	0.0002	0.0001	9.04e-05	0	0	5.047e-05	0	0	0.0002	0.0001	4.649e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2143	3836.75	118	chr3	98133456	.	ACCCC	A,*	3836.75	.	AC=6,3;AF=0.143,0.071;AN=42;BaseQRankSum=-2.885e+00;DP=2067;ExcessHet=4.7172;FS=151.643;InbreedingCoeff=-0.2727;MLEAC=6,3;MLEAF=0.143,0.071;MQ=59.98;MQRankSum=0.00;QD=3.65;ReadPosRankSum=1.72;SOR=10.814	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:94,29,0:123:99:0|1:98133456_ACCCC_A:575,0,3640,856,3726,4582:98133456	12	0	6	0
chr3	98133456	98133460	ACCCC	0	exonic	OR5H1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2143	3836.75	118	chr3	98133456	.	ACCCC	A,*	3836.75	.	AC=6,3;AF=0.143,0.071;AN=42;BaseQRankSum=-2.885e+00;DP=2067;ExcessHet=4.7172;FS=151.643;InbreedingCoeff=-0.2727;MLEAC=6,3;MLEAF=0.143,0.071;MQ=59.98;MQRankSum=0.00;QD=3.65;ReadPosRankSum=1.72;SOR=10.814	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:94,29,0:123:99:0|1:98133456_ACCCC_A:575,0,3640,856,3726,4582:98133456	12	0	6	0
chr3	98133457	98133457	C	G	exonic	OR5H1	.	nonsynonymous SNV	OR5H1:NM_001005338:exon1:c.C760G:p.P254A,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	0.151	B	0.232	B	0.355	N	1.000	N	0.99	L	8.7	T	-0.977	T	0.000	T	0.282	-0.269	2.712	-0.991	0.162	-0.392	0.252	0.060	0.000569954661155	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.329e-05	0.0018	6.384e-05	4.27e-05	0.0002	4.354e-05	3.971e-05	8.053e-05	5.462e-05	0.0002	0	3.884e-05	0	0	0.0002	6.21e-05	1.708e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.051	0.39334	T	0.034	0.52727	D	0.151	0.28027	B	0.232	0.38314	B	0.354555	0.13763	N	0.638540	1	0.08975	N	0.41	0.12415	N	8.7	0.00113	T	-2.42	0.53096	N	0.208	0.23125	-0.9765	0.35794	T	0.000	0.00114	T	10	0.06313068	0.08178	T	5.7E-4	0.00233	T	0.060	0.17295	0.376	0.38994	0.151104730317	0.14643	0.05160260000435715	0.05102	0.305303193982	0.32830	0.232944488525	0.02193	T	0.007444	0.06846	T	-0.267429	0.12046	T	-0.62192	0.11035	T	0.254086643457413	0.23055	T	0.806719	0.45571	T	0.06336548	0.13335	0.05555225	0.09765	0.06336548	0.13334	0.05555225	0.09764	-3.319	0.13984	T	.	.	0.103	0.18331	B	.;.	.;.	1.419986	0.18368	13.70	0.79297022959657282	0.12678	0.03061	0.07965	N	AEFI	0.062772	0.12088	N	-0.896657213234765	0.10921	0.5243543	-0.985832915716643	0.10103	0.5067427	1.9149263690292E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.57	-0.991	0.09712	-0.193000	0.09572	.	.	0.385000	0.20450	0.000000	0.06391	0.000000	0.08366	0.046000	0.14843	0.3369:0.2611:0.1662:0.2358	0.252	0.00192	773	0.48803	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.3846	411.68	118	chr3	98133457	.	C	G,*	411.68	.	AC=1,9;AF=0.038,0.346;AN=26;BaseQRankSum=-3.267e+00;DP=1955;ExcessHet=6.1002;FS=151.643;InbreedingCoeff=-0.5000;MLEAC=1,12;MLEAF=0.038,0.462;MQ=60.00;MQRankSum=0.00;QD=0.36;ReadPosRankSum=2.36;SOR=10.919	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:94,0,29:123:99:0|1:98133456_ACCCC_A:575,856,4582,0,3726,3640:98133456	3	0	1	8
chr3	98133457	98133457	C	0	exonic	OR5H1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3846	411.68	118	chr3	98133457	.	C	G,*	411.68	.	AC=1,9;AF=0.038,0.346;AN=26;BaseQRankSum=-3.267e+00;DP=1955;ExcessHet=6.1002;FS=151.643;InbreedingCoeff=-0.5000;MLEAC=1,12;MLEAF=0.038,0.462;MQ=60.00;MQRankSum=0.00;QD=0.36;ReadPosRankSum=2.36;SOR=10.919	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:94,0,29:123:99:0|1:98133456_ACCCC_A:575,856,4582,0,3726,3640:98133456	3	0	1	8
chr3	98133459	98133459	C	0	exonic	OR5H1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3846	378.19	118	chr3	98133459	.	C	G,*	378.19	.	AC=1,9;AF=0.038,0.346;AN=26;BaseQRankSum=-1.973e+00;DP=1992;ExcessHet=6.1002;FS=147.603;InbreedingCoeff=-0.5184;MLEAC=1,12;MLEAF=0.038,0.462;MQ=60.00;MQRankSum=0.00;QD=0.33;ReadPosRankSum=2.40;SOR=10.919	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:94,0,29:123:99:0|1:98133456_ACCCC_A:575,856,4582,0,3726,3640:98133456	3	0	1	8
chr3	98133460	98133460	-	GGGG	exonic	OR5H1	.	frameshift insertion	OR5H1:NM_001005338:exon1:c.763_764insGGGG:p.L255Rfs*16,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	5081.43	115	chr3	98133460	.	C	CGGGG,CGGGGG,G,CGTGG,CGGTGG	5081.43	.	AC=5,3,1,1,1;AF=0.227,0.136,0.045,0.045,0.045;AN=22;BaseQRankSum=-6.190e-01;DP=1956;ExcessHet=7.7275;FS=160.493;InbreedingCoeff=-0.6154;MLEAC=7,4,1,1,1;MLEAF=0.318,0.182,0.045,0.045,0.045;MQ=59.99;MQRankSum=0.00;QD=4.21;ReadPosRankSum=2.04;SOR=11.219	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:94,28,0,0,0,0:122:99:0|1:98133456_ACCCC_A:568,0,3643,849,3726,4575,849,3726,4575,4575,849,3726,4575,4575,4575,849,3726,4575,4575,4575,4575:98133456	0	0	5	10
chr3	98133460	98133460	-	GGGGG	exonic	OR5H1	.	frameshift insertion	OR5H1:NM_001005338:exon1:c.763_764insGGGGG:p.L255Rfs*33,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	5081.43	115	chr3	98133460	.	C	CGGGG,CGGGGG,G,CGTGG,CGGTGG	5081.43	.	AC=5,3,1,1,1;AF=0.227,0.136,0.045,0.045,0.045;AN=22;BaseQRankSum=-6.190e-01;DP=1956;ExcessHet=7.7275;FS=160.493;InbreedingCoeff=-0.6154;MLEAC=7,4,1,1,1;MLEAF=0.318,0.182,0.045,0.045,0.045;MQ=59.99;MQRankSum=0.00;QD=4.21;ReadPosRankSum=2.04;SOR=11.219	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:94,28,0,0,0,0:122:99:0|1:98133456_ACCCC_A:568,0,3643,849,3726,4575,849,3726,4575,4575,849,3726,4575,4575,4575,849,3726,4575,4575,4575,4575:98133456	0	0	5	10
chr3	98133460	98133460	C	G	exonic	OR5H1	.	nonsynonymous SNV	OR5H1:NM_001005338:exon1:c.C763G:p.L255V,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.39	T	1.0	D	0.999	D	0.001	D	1.000	N	1.325	L	8.74	T	-0.730	T	0.001	T	0.254	0.426	6.315	3.57	1.818	-0.974	8.167	0.060	0.00117854807808	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.962e-05	0.0018	9.935e-05	5.982e-05	0.0002	6.745e-05	6.308e-05	8.053e-05	7.118e-05	0.0002	0	0	2.539e-05	0	0	9.229e-05	6.835e-05	3.522e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.063	0.36709	T	0.161	0.31326	T	1.0	0.90584	D	0.999	0.92359	D	0.000719	0.42254	D	0.000000	1	0.08975	N	1.055	0.26876	L	8.74	0.00084	T	-2.84	0.59873	D	0.082	0.05799	-0.7301	0.58959	T	0.001	0.00287	T	10	0.22429666	0.39230	T	0.001179	0.01509	T	0.060	0.17295	0.371	0.38176	0.298745278005	0.29478	0.048044440119727576	0.04747	0.654731206335	0.58542	0.272874593735	0.06519	T	0.007249	0.06665	T	-0.259952	0.12906	T	-0.61118	0.11889	T	0.845799565315247	0.49807	D	0.80082	0.44648	T	0.1752088	0.38366	0.14435342	0.34275	0.1752088	0.38366	0.14435342	0.34274	-3.447	0.15697	T	.	.	0.132	0.28492	B	.;.	.;.	2.299242	0.29417	18.12	0.98981953560601799	0.49760	0.02367	0.06739	N	AEFI	0.059639	0.11279	N	-0.196966090587521	0.33261	1.884947	-0.353468082146493	0.26402	1.458076	1.0108118885271E-5	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.57	3.57	0.40014	-0.690000	0.05240	.	.	0.385000	0.20450	0.000000	0.06391	0.000000	0.08366	0.078000	0.17132	0.2395:0.7605:0.0:0.0	8.167	0.30391	773	0.48803	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.5	5081.43	115	chr3	98133460	.	C	CGGGG,CGGGGG,G,CGTGG,CGGTGG	5081.43	.	AC=5,3,1,1,1;AF=0.227,0.136,0.045,0.045,0.045;AN=22;BaseQRankSum=-6.190e-01;DP=1956;ExcessHet=7.7275;FS=160.493;InbreedingCoeff=-0.6154;MLEAC=7,4,1,1,1;MLEAF=0.318,0.182,0.045,0.045,0.045;MQ=59.99;MQRankSum=0.00;QD=4.21;ReadPosRankSum=2.04;SOR=11.219	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:94,28,0,0,0,0:122:99:0|1:98133456_ACCCC_A:568,0,3643,849,3726,4575,849,3726,4575,4575,849,3726,4575,4575,4575,849,3726,4575,4575,4575,4575:98133456	0	0	5	10
chr3	98133460	98133460	-	GTGG	exonic	OR5H1	.	frameshift insertion	OR5H1:NM_001005338:exon1:c.763_764insGTGG:p.L255Rfs*16,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	5081.43	115	chr3	98133460	.	C	CGGGG,CGGGGG,G,CGTGG,CGGTGG	5081.43	.	AC=5,3,1,1,1;AF=0.227,0.136,0.045,0.045,0.045;AN=22;BaseQRankSum=-6.190e-01;DP=1956;ExcessHet=7.7275;FS=160.493;InbreedingCoeff=-0.6154;MLEAC=7,4,1,1,1;MLEAF=0.318,0.182,0.045,0.045,0.045;MQ=59.99;MQRankSum=0.00;QD=4.21;ReadPosRankSum=2.04;SOR=11.219	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:94,28,0,0,0,0:122:99:0|1:98133456_ACCCC_A:568,0,3643,849,3726,4575,849,3726,4575,4575,849,3726,4575,4575,4575,849,3726,4575,4575,4575,4575:98133456	0	0	5	10
chr3	98133460	98133460	-	GGTGG	exonic	OR5H1	.	frameshift insertion	OR5H1:NM_001005338:exon1:c.763_764insGGTGG:p.L255Rfs*33,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	5081.43	115	chr3	98133460	.	C	CGGGG,CGGGGG,G,CGTGG,CGGTGG	5081.43	.	AC=5,3,1,1,1;AF=0.227,0.136,0.045,0.045,0.045;AN=22;BaseQRankSum=-6.190e-01;DP=1956;ExcessHet=7.7275;FS=160.493;InbreedingCoeff=-0.6154;MLEAC=7,4,1,1,1;MLEAF=0.318,0.182,0.045,0.045,0.045;MQ=59.99;MQRankSum=0.00;QD=4.21;ReadPosRankSum=2.04;SOR=11.219	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:94,28,0,0,0,0:122:99:0|1:98133456_ACCCC_A:568,0,3643,849,3726,4575,849,3726,4575,4575,849,3726,4575,4575,4575,849,3726,4575,4575,4575,4575:98133456	0	0	5	10
chr3	99790960	99790960	T	C	exonic	COL8A1	.	nonsynonymous SNV	COL8A1:NM_020351:exon3:c.T278C:p.I93T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.67	T	0.002	B	0.007	B	0.626	N	0.999	N	0.55	N	-2.79	D	-0.614	T	0.561	D	0.252	3.430	17.60	5.86	2.241	5.505	14.197	0.239	0.0464175628527	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	7.534e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.65419	D	0.024	0.56640	D	0.002	0.09854	B	0.007	0.12992	B	0.626423	0.05786	N	1.175870	0.998827	0.21877	N	1.5	0.37844	L	-2.79	0.91019	D	-4.27	0.76254	D	0.444	0.48227	-0.6140	0.64238	T	0.561	0.84031	D	10	0.18345827	0.33673	T	0.046418	0.62447	D	0.239	0.54358	0.357	0.35897	0.924347348687	0.92358	0.366193068856577	0.36533	0.285142599056	0.30925	0.492204546928	0.37745	T	0.095194	0.53627	T	0.0488784	0.58199	T	-0.167566	0.57666	T	0.802636981010437	0.46533	D	0.765923	0.40508	T	0.12284405	0.28857	0.0740384	0.16153	0.12284405	0.28857	0.0740384	0.16153	-4.304	0.28232	T	.	.	0.398	0.59970	A	.;.;.;.	.;.;.;.	3.398026	0.47076	22.4	0.99758335663458786	0.84851	0.91648	0.53968	D	AEBCI	0.380408	0.46306	N	-0.289187463698073	0.29565	1.640657	-0.0947472757979899	0.35606	2.062034	0.99999992535184	0.74766	0.67177	0.52595	0	0.573888	0.26702	0	0.573888	0.23631	0	0.711	0.71501	0	.	.	5.86	5.86	0.93936	5.505000	0.66698	5.012000	0.46677	0.665000	0.62972	0.997000	0.40164	1.000000	0.68203	0.987000	0.62547	0.0:0.0:0.0:1.0	14.197	0.65220	290	0.88477	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.2	566.96	141	chr3	99790960	.	T	C	566.96	.	AC=8;AF=0.200;AN=40;BaseQRankSum=-3.024e+00;DP=2798;ExcessHet=3.5521;FS=92.750;InbreedingCoeff=-0.2560;MLEAC=8;MLEAF=0.200;MQ=60.00;MQRankSum=0.00;QD=0.44;ReadPosRankSum=0.888;SOR=10.380	GT:AD:DP:GQ:PL	0/1:145,36:181:90:90,0,2711	12	0	8	1
chr3	100775333	100775333	T	C	exonic	ABI3BP	.	nonsynonymous SNV	ABI3BP:NM_015429:exon27:c.A2182G:p.I728V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.43	T	0.217	B	0.064	B	0.130	N	1.000	N	0.69	N	2.23	T	-0.991	T	0.069	T	0.165	-0.071	3.653	-1.84	-0.269	-0.189	9.015	0.028	0.0042577872272	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.057	0.40832	T	0.851	0.17064	T	0.11	0.26188	B	0.064	0.27215	B	0.129979	0.18676	N	0.542434	0.998149	0.23853	N	2.245	0.63543	M	2.23	0.22881	T	-0.36	0.13035	N	0.238	0.26837	-0.9907	0.32424	T	0.069	0.28113	T	10	0.1329661	0.25307	T	0.004258	0.10310	T	0.028	0.06331	0.178	0.08503	0.536287059136	0.53279	0.1284411164199673	0.12769	0.081923470924	0.09225	0.37267062068	0.21215	T	0.013394	0.13935	T	-0.217609	0.18322	T	-0.550357	0.17292	T	0.24375493824482	0.22591	T	0.640436	0.25296	T	0.023745567	0.01140	0.03538561	0.02781	0.023745567	0.01140	0.03538561	0.02780	.	.	.	.	.	0.112	0.22024	B	.;.;.	.;.;.	1.023665	0.14032	10.60	0.62105742636814754	0.06878	0.33788	0.24913	N	AEFDBIJ	0.088700	0.17982	N	-0.138409453698759	0.35730	2.055995	-0.25515300555331	0.29594	1.659267	0.971890519317384	0.29325	0.732398	0.92422	0	0.573888	0.26702	0	0.547309	0.15389	0	0.727631	0.95156	0	.	.	4.68	-1.84	0.07387	-0.061000	0.11650	0.266000	0.16602	-0.194000	0.09177	0.988000	0.36536	0.994000	0.32194	0.924000	0.46004	0.0:0.5259:0.0:0.4741	9.015	0.35326	722	0.55239	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.4048	2827.45	43	chr3	100775333	.	T	C	2827.45	.	AC=17;AF=0.405;AN=42;BaseQRankSum=-7.940e-01;DP=858;ExcessHet=25.1139;FS=205.111;InbreedingCoeff=-0.6641;MLEAC=17;MLEAF=0.405;MQ=60.00;MQRankSum=0.00;QD=4.20;ReadPosRankSum=0.283;SOR=11.182	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:22,15:37:99:0|1:100775333_T_C:161,0,451:100775333	4	0	17	0
chr3	101732588	101732588	C	T	exonic	CEP97	.	nonsynonymous SNV	CEP97:NM_001303401:exon6:c.C662T:p.P221L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.999	D	0.000	D	1.000	D	1.79	L	1.16	T	-0.739	T	0.225	T	0.927	5.322	34	5.82	2.756	7.786	20.109	0.574	0.10196030905	.	.	1.649e-05	9.614e-05	0	0	0	1.5e-05	0	0	1.29e-05	2	154602	rs767825851	6.841e-06	6.84e-06	5.445e-06	8.251e-06	2.519e-05	3.46e-06	2.52e-06	3.1e-06	2.24e-06	0	0	0	2.519e-05	0	0	7.195e-06	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.018	0.72154	D	0.006	0.70582	D	1.0	0.90584	D	0.981	0.92359	D	0.000000	0.84330	D	0.000000	1	0.81001	D	1.065	0.27018	L	1.16	0.38073	T	-9.98	0.98796	D	0.735	0.82761	-0.7390	0.58504	T	0.225	0.58881	T	10	0.7872319	0.78351	D	0.10196	0.77514	D	0.574	0.82742	0.539	0.65018	0.689493914899	0.68683	0.759596545045756	0.75907	0.615807059448	0.56063	0.839955329895	0.88088	D	0.276733	0.64933	T	0.127382	0.67105	D	0.126727	0.78677	D	0.997541189193726	0.91815	D	0.968203	0.89432	D	0.5992094	0.72649	0.6533747	0.79712	0.5992094	0.72650	0.6533747	0.79713	-10.826	0.78695	D	0.8051707557438275	0.88117	0.828	0.87767	P	.;.	.;.	5.384335	0.90224	31	0.9989793759761546	0.97048	0.98972	0.89372	D	AEFGBHI	0.875290	0.79862	D	0.818282085057581	0.87235	9.14839	0.825696613854639	0.91520	10.92876	0.99999999996887	0.74766	0.562547	0.31514	0	0.653731	0.59785	0	0.608884	0.39905	0	0.635551	0.53088	0	.	.	5.82	5.82	0.92740	7.876000	0.85623	7.631000	0.62734	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.987000	0.62547	0.0:1.0:0.0:0.0	20.109	0.97902	787	0.46738	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1262.98	33	chr3	101732588	.	C	T	1262.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.13;DP=807;ExcessHet=0.0000;FS=5.661;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.61;ReadPosRankSum=-2.434e+00;SOR=0.786	GT:AD:DP:GQ:PL	0/1:65,54:119:99:1277,0,1452	20	0	1	0
chr3	101755512	101755512	G	A	exonic	CEP97	.	nonsynonymous SNV	CEP97:NM_001303401:exon7:c.G811A:p.A271T	.	.	431	1089	2	0	0	2	0.000917431	.	.	1930442	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0	D	0.183	B	0.331	B	0.000	D	1.000	D	1.7	L	0.63	T	-0.706	T	0.213	T	0.545	4.234	22.0	5.16	1.568	6.487	15.109	0.174	0.0187824400777	.	0.000199681	0.0003	0	8.643e-05	0	0	0	0	0.0019	0.0002199	34	154602	rs567184992	0.0002	0.0002	0.0001	0.0002	0.0021	0.0001	0.0001	0.0019	0.0018	0	2.236e-05	0	0	0	0.0005	2.428e-05	0.0002	0.0021	0.0001	0.0001	0.0002	0.0001	0.0017	9.754e-05	8.267e-05	0.0008	0.0006	0	0.0121	0	0	0	0	0	4.414e-05	0	0.0017	0.049	0.39820	D	0.006	0.70582	D	0.051	0.29179	B	0.078	0.31615	B	0.000000	0.84330	D	0.050258	0.999962	0.52935	D	1.765	0.45800	L	0.51	0.55439	T	-1.29	0.35399	N	0.321	0.37301	-0.7056	0.60169	T	0.213	0.57347	T	10	0.012366354	0.00266	T	0.018782	0.40954	T	0.174	0.44019	0.499	0.58991	0.699765734033	0.69716	0.5187634475872913	0.51799	0.167373738251	0.18878	0.752485334873	0.74812	T	0.075603	0.35216	T	-0.326639	0.06369	T	-0.248446	0.49969	T	0.0863511249552458	0.10779	T	0.858514	0.55630	D	0.19113491	0.40728	0.20927566	0.45265	0.19113491	0.40728	0.20927566	0.45264	-7.976	0.60906	D	0.545717910454709	0.61485	0.385	0.62665	A	.;.	.;.	5.025538	0.83546	28.1	0.99818931546998535	0.90238	0.97929	0.78202	D	AEFBI	0.635669	0.61510	D	0.176511432356482	0.50073	3.200887	0.320324253646946	0.56736	3.83734	0.993220611874266	0.33132	0.706548	0.73137	0	0.615513	0.52658	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	6.03	5.16	0.70563	6.608000	0.74043	9.775000	0.81571	0.596000	0.33519	1.000000	0.71638	1.000000	0.68203	0.991000	0.66497	0.0673:0.0:0.9327:0.0	15.109	0.72017	795	0.45444	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1815.98	34	chr3	101755512	.	G	A	1815.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.160e-01;DP=814;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.13;ReadPosRankSum=0.702;SOR=0.648	GT:AD:DP:GQ:PL	0/1:47,73:120:99:1830,0,1111	20	0	1	0
chr3	101758093	101758093	A	T	exonic	CEP97	.	nonsynonymous SNV	CEP97:NM_001303401:exon9:c.A1310T:p.D437V	.	.	425	1086	11	0	0	11	0.00503894	.	.	1930444	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.07	T	0.361	B	0.116	B	0.007	N	0.820	N	0.895	L	0.65	T	-1.000	T	0.091	T	0.306	0.281	5.522	2.95	0.336	0.982	4.745	0.013	0.0317981589613	.	0.000199681	0.0003	0	8.642e-05	0	0	5.994e-05	0	0.0022	0.0002717	42	154602	rs546587338	0.0002	0.0002	0.0002	0.0003	0.0025	0.0002	0.0002	0.0022	0.0021	0	0.0001	0	0	0	0.0012	6.924e-05	0.0004	0.0025	0.0002	0.0002	0.0002	0.0002	0.0025	0.0001	0.0001	0.0014	0.0011	0	0.0121	0	0	0	0	0	0.0001	0	0.0025	0.057	0.78490	T	0.113	0.36901	T	0.361	0.33905	B	0.058	0.31939	B	0.006548	0.31955	N	0.317042	0.820237	0.28891	N	2.38	0.68558	M	0.65	0.54347	T	-2.65	0.56787	D	0.216	0.24135	-1.0000	0.29917	T	0.091	0.34737	T	10	0.004094392	0.00080	T	0.031798	0.53791	D	0.013	0.01715	.	.	0.457286136841	0.45351	0.2289137162890929	0.22806	0.198422229685	0.22219	0.255104035139	0.04325	T	0.057414	0.30559	T	-0.411039	0.01956	T	-0.367821	0.37144	T	0.0576546604839948	0.06794	T	0.69663	0.32778	T	0.11778785	0.27762	0.11657826	0.28142	0.12980409	0.30306	0.10134949	0.24260	-4.347	0.28830	T	0.1827847218357728	0.23632	0.111	0.29588	B	.;.	.;.	1.434164	0.18528	13.79	0.95063863742045163	0.26096	0.22700	0.21834	N	AEFBI	0.074498	0.14935	N	-0.736324187262618	0.15006	0.752552	-0.743114838725511	0.15891	0.8380567	0.00573241819031783	0.11028	0.706548	0.73137	0	0.724815	0.89359	0	0.65145	0.50148	0	0.635551	0.53088	0	.	.	5.37	2.95	0.33285	0.517000	0.22539	5.314000	0.48272	0.691000	0.84096	0.026000	0.20160	1.000000	0.68203	0.736000	0.35301	0.7443:0.0:0.0902:0.1656	4.745	0.12408	795	0.45444	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2020.98	34	chr3	101758093	.	A	T	2020.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.078;DP=831;ExcessHet=0.0000;FS=2.097;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.84;ReadPosRankSum=-1.308e+00;SOR=0.690	GT:AD:DP:GQ:PL	0/1:64,82:146:99:2035,0,1519	20	0	1	0
chr3	112231407	112231407	G	C	exonic	SLC9C1	.	nonsynonymous SNV	SLC9C1:NM_001320531:exon12:c.C1382G:p.T461S	.	.	0	225	1	0	0	1	0.00221729	.	.	2336993	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.7	T	0.013	B	0.02	B	0.887	N	1.000	N	0.345	N	-1.06	T	-0.956	T	0.184	T	0.027	-0.680	1.037	-3.51	-0.350	0.211	5.970	0.171	0.0250466349223	0.0002	.	0.0002	9.86e-05	0.0005	0	0	0.0003	0	0.0001	0.0001876	29	154602	rs199776585	0.0001	0.0001	9.942e-05	0.0001	0.0010	9.271e-05	8.735e-05	0.0005	0.0003	5.978e-05	0.0005	0	0	0	0.0010	9.625e-05	0.0002	5.801e-05	0.0002	0.0002	0.0002	0.0001	0.0005	0.0001	0.0001	0.0003	0.0002	0.0002	0	0.0005	0	0	0	0	0.0002	0	0	0.496	0.08140	T	0.046	0.49120	D	0.013	0.16609	B	0.006	0.19048	B	0.887102	0.07271	N	1.055120	1	0.08975	N	0.55	0.14455	N	-1.06	0.76948	T	-0.76	0.21860	N	0.124	0.18784	-0.9559	0.39934	T	0.184	0.53270	T	10	0.027735054	0.00914	T	0.025047	0.48032	D	0.171	0.43483	0.306	0.27646	0.180583059064	0.17676	0.13441270517842951	0.13365	0.0540331048797	0.05968	0.313136875629	0.12381	T	0.01921	0.15347	T	-0.500469	0.00568	T	-0.602632	0.12591	T	0.00289785158821794	0.00030	T	.	.	.	0.03771659	0.04888	0.03396589	0.02380	0.03771659	0.04887	0.03396589	0.02380	-3.343	0.14298	T	.	.	0.101	0.19478	B	.;.	.;.	-0.311033	0.02568	0.313	0.45610157817257957	0.03592	0.03968	0.09377	N	AEFI	0.081772	0.16550	N	-1.57558854590961	0.01391	0.06063206	-1.5483833061952	0.01987	0.090772	5.5628593511146E-5	0.04171	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	5.44	-3.51	0.04397	0.306000	0.19030	-0.145000	0.11477	-0.687000	0.04166	0.636000	0.28050	0.000000	0.08366	0.237000	0.22922	0.3511:0.0:0.4923:0.1566	5.970	0.18584	656	0.62345	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	991.98	40	chr3	112231407	.	G	C	991.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.160;DP=783;ExcessHet=0.0000;FS=1.739;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.40;ReadPosRankSum=-3.800e-02;SOR=0.754	GT:AD:DP:GQ:PL	0/1:42,45:87:99:1006,0,913	20	0	1	0
chr3	113657270	113657272	TGC	-	exonic	USF3	.	nonframeshift deletion	USF3:NM_001009899:exon7:c.4410_4412del:p.Q1478del,	.	.	0	5	9	26	186	247	0.859155	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6429	51424.2	60	chr3	113657263	.	TTGCTGCTGC	TTGCTGC,T,TTGC,TTGCTGCTGCTGC,TTGCTGCTGCTGCTGC	51424.2	.	AC=19,11,2,7,1;AF=0.452,0.262,0.048,0.167,0.024;AN=42;BaseQRankSum=-8.100e-02;DP=1923;ExcessHet=0.1072;FS=1.248;InbreedingCoeff=-0.0500;MLEAC=19,11,2,7,1;MLEAF=0.452,0.262,0.048,0.167,0.024;MQ=60.00;MQRankSum=0.00;QD=30.73;ReadPosRankSum=1.12;SOR=0.564	GT:AD:DP:GQ:PL	1/4:0,33,0,0,26,0:59:99:2257,982,1011,2283,1053,2351,2283,1053,2351,2351,1303,0,1323,1323,1247,2283,1053,2351,2351,1323,2351	0	4	0	0
chr3	113657267	113657272	TGCTGC	-	exonic	USF3	.	nonframeshift deletion	USF3:NM_001009899:exon7:c.4410_4415del:p.Q1477_Q1478del,	.	.	0	5	9	26	186	247	0.859155	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6429	51424.2	60	chr3	113657263	.	TTGCTGCTGC	TTGCTGC,T,TTGC,TTGCTGCTGCTGC,TTGCTGCTGCTGCTGC	51424.2	.	AC=19,11,2,7,1;AF=0.452,0.262,0.048,0.167,0.024;AN=42;BaseQRankSum=-8.100e-02;DP=1923;ExcessHet=0.1072;FS=1.248;InbreedingCoeff=-0.0500;MLEAC=19,11,2,7,1;MLEAF=0.452,0.262,0.048,0.167,0.024;MQ=60.00;MQRankSum=0.00;QD=30.73;ReadPosRankSum=1.12;SOR=0.564	GT:AD:DP:GQ:PL	1/4:0,33,0,0,26,0:59:99:2257,982,1011,2283,1053,2351,2283,1053,2351,2351,1303,0,1323,1323,1247,2283,1053,2351,2351,1323,2351	0	4	0	0
chr3	113657272	113657272	-	TGC	exonic	USF3	.	nonframeshift insertion	USF3:NM_001009899:exon7:c.4409_4410insGCA:p.Q1478_A1479insQ,	.	.	0	5	9	26	186	247	0.859155	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6429	51424.2	60	chr3	113657263	.	TTGCTGCTGC	TTGCTGC,T,TTGC,TTGCTGCTGCTGC,TTGCTGCTGCTGCTGC	51424.2	.	AC=19,11,2,7,1;AF=0.452,0.262,0.048,0.167,0.024;AN=42;BaseQRankSum=-8.100e-02;DP=1923;ExcessHet=0.1072;FS=1.248;InbreedingCoeff=-0.0500;MLEAC=19,11,2,7,1;MLEAF=0.452,0.262,0.048,0.167,0.024;MQ=60.00;MQRankSum=0.00;QD=30.73;ReadPosRankSum=1.12;SOR=0.564	GT:AD:DP:GQ:PL	1/4:0,33,0,0,26,0:59:99:2257,982,1011,2283,1053,2351,2283,1053,2351,2351,1303,0,1323,1323,1247,2283,1053,2351,2351,1323,2351	0	4	0	0
chr3	113657272	113657272	-	TGCTGC	exonic	USF3	.	nonframeshift insertion	USF3:NM_001009899:exon7:c.4409_4410insGCAGCA:p.Q1478_A1479insQQ,	.	.	0	5	9	26	186	247	0.859155	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6429	51424.2	60	chr3	113657263	.	TTGCTGCTGC	TTGCTGC,T,TTGC,TTGCTGCTGCTGC,TTGCTGCTGCTGCTGC	51424.2	.	AC=19,11,2,7,1;AF=0.452,0.262,0.048,0.167,0.024;AN=42;BaseQRankSum=-8.100e-02;DP=1923;ExcessHet=0.1072;FS=1.248;InbreedingCoeff=-0.0500;MLEAC=19,11,2,7,1;MLEAF=0.452,0.262,0.048,0.167,0.024;MQ=60.00;MQRankSum=0.00;QD=30.73;ReadPosRankSum=1.12;SOR=0.564	GT:AD:DP:GQ:PL	1/4:0,33,0,0,26,0:59:99:2257,982,1011,2283,1053,2351,2283,1053,2351,2351,1303,0,1323,1323,1247,2283,1053,2351,2351,1323,2351	0	4	0	0
chr3	114350760	114350760	C	T	exonic	ZBTB20	.	nonsynonymous SNV	ZBTB20:NM_001164342:exon4:c.G1318A:p.E440K	Primrose syndrome, Autosomal dominant	.	427	1046	47	2	0	51	0.0237984	.	.	697765	not_provided|not_specified|Primrose_syndrome	MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0009798,MedGen:C0796121,OMIM:259050,Orphanet:3042	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.16	T	0.0	B	0.0	B	0.006	N	1.000	D	0.695	N	2.95	T	-1.034	T	0.013	T	0.201	2.240	13.45	5.41	2.546	7.271	19.198	0.085	.	0.0054	0.00479233	0.0061	0.0013	0.0034	0	0.0005	0.0077	0.0066	0.0099	0.0059249	916	154602	rs138924453	0.0062	0.0062	0.0061	0.0062	0.0192	0.0061	0.0060	0.0163	0.0153	0.0007	0.0052	0.0164	0	0.0009	0.0192	0.0062	0.0075	0.0094	0.0053	0.0053	0.0055	0.0052	0.0108	0.0050	0.0049	0.0094	0.0089	0.0010	0.0033	0.0108	0.0164	0.0002	0.0002	0.0238	0.0071	0.0095	0.0068	0.005	0.65419	D	0.908	0.03074	T	0.0	0.02946	B	0.0	0.01387	B	0.005851	0.32460	N	0.335736	0.999918	0.51042	D	0.805	0.20218	L	2.95	0.09822	T	-0.4	0.13805	N	0.462	0.50056	-1.0342	0.19109	T	0.013	0.04985	T	10	0.0055340827	0.00122	T	.	.	.	0.085	0.24743	.	.	0.273495378476	0.26946	0.35997643831087467	0.35911	1.32069806668	0.83445	0.627004861832	0.56721	T	0.106686	0.41824	T	-0.469568	0.00855	T	-0.440456	0.28757	T	0.0611467036723522	0.07347	T	0.878612	0.59406	D	0.38603228	0.59749	0.32534233	0.58450	0.3285269	0.55350	0.32534233	0.58449	-2.938	0.11102	T	.	.	0.352	0.56715	A	.;.;.;.;.;.;.	.;.;.;.;.;.;.	3.272020	0.44790	22.0	0.99728218537375035	0.82549	0.97136	0.72900	D	AEFBI	0.764290	0.70112	D	0.0161949265100816	0.42593	2.569172	0.22455800224508	0.51212	3.305839	0.999999922502221	0.74766	0.372202	0.05800	0	0.546412	0.12157	0	0.547309	0.15389	0	0.491896	0.07777	0	.	.	5.41	5.41	0.78313	7.350000	0.78633	7.709000	0.66702	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:1.0:0.0:0.0	19.198	0.93686	846	0.36215	.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.07143	7454.68	33	chr3	114350760	.	C	T	7454.68	.	AC=3;AF=0.071;AN=42;BaseQRankSum=0.545;DP=1193;ExcessHet=0.3300;FS=3.239;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=13.73;ReadPosRankSum=-3.870e-01;SOR=0.511	GT:AD:DP:GQ:PL	0/1:81,95:176:99:2465,0,2232	18	0	3	0
chr3	120173425	120173425	G	A	exonic	GPR156	.	nonsynonymous SNV	GPR156:NM_001168271:exon9:c.C967T:p.R323C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	B	0.0	B	0.546	N	0.999	N	1.79	L	1.87	T	-1.015	T	0.042	T	0.135	1.592	11.28	0.255	-0.259	1.142	4.933	0.071	.	0.0027	0.00379393	0.0008	0.0081	0.0003	0	0	7.493e-05	0.0011	0	0.0007309	113	154602	rs57059149	0.0003	0.0003	0.0003	0.0003	0.0074	0.0003	0.0003	0.0067	0.0064	0.0074	0.0008	0	2.519e-05	0	0.0005	8.274e-05	0.0008	1.159e-05	0.0022	0.0022	0.0022	0.0021	0.0073	0.0020	0.0019	0.0066	0.0064	0.0073	0	0.0014	0	0	0	0	2.941e-05	0.0033	0	0.069	0.35537	T	0.014	0.62352	D	0.002	0.09854	B	0.0	0.01387	B	0.545633	0.05340	N	1.234910	0.998589	0.22057	N	0.41	0.12415	N	1.87	0.24085	T	-0.75	0.23372	N	0.201	0.22228	-1.0152	0.25272	T	0.042	0.18202	T	9	0.005952537	0.00133	T	.	.	.	0.071	0.20720	.	.	0.0401082797425	0.02173	0.28681149681973106	0.28594	0.324793968335	0.34632	0.205490723252	0.00634	T	0.003472	0.02879	T	-0.597146	0.00152	T	-0.624986	0.10798	T	0.0162358151020956	0.00396	T	0.662834	0.27173	T	0.074266344	0.16655	0.047367692	0.06808	0.074266344	0.16655	0.047367692	0.06808	-7.396	0.56876	T	.	.	0.073	0.09820	B	.;.;.	.;.;.	1.020745	0.14004	10.57	0.93372460735581286	0.23116	0.78365	0.38652	D	AEFDBIJ	0.225451	0.34954	N	-0.569834242358616	0.19865	1.043061	-0.535954460465216	0.21179	1.144541	0.999957918299885	0.48110	0.57788	0.32782	0	0.573888	0.26702	0	0.608075	0.38828	0	0.613276	0.41899	0	.	.	5.48	0.255	0.14819	1.213000	0.32011	-0.368000	0.09627	-0.681000	0.04224	1.000000	0.71638	0.000000	0.08366	0.862000	0.40904	0.3428:0.1424:0.5147:0.0	4.933	0.13280	771	0.49057	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1480.98	35	chr3	120173425	.	G	A	1480.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.08;DP=915;ExcessHet=0.0000;FS=1.304;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.94;ReadPosRankSum=0.999;SOR=0.813	GT:AD:DP:GQ:PL	0/1:86,63:149:99:1495,0,2087	20	0	1	0
chr3	121623083	121623083	G	C	exonic	FBXO40	.	nonsynonymous SNV	FBXO40:NM_016298:exon3:c.G1654C:p.E552Q,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.38	T	0.949	P	0.578	P	0.089	N	0.994	N	0.55	N	1.48	T	-1.061	T	0.045	T	0.086	1.514	11.01	5.96	2.831	1.538	11.211	0.085	.	0.0036	0.00279553	0.0009	0.0101	0.0003	0	0	0	0	0	0.0008279	128	154602	rs141908054	0.0003	0.0003	0.0003	0.0002	0.0100	0.0002	0.0002	0.0091	0.0088	0.0100	0.0002	0	0	0	0.0002	3.597e-06	0.0007	1.159e-05	0.0025	0.0025	0.0024	0.0026	0.0087	0.0023	0.0022	0.0080	0.0077	0.0087	0	0.0007	0	0	0	0	1.47e-05	0.0028	0	0.516	0.07354	T	0.6	0.07946	T	0.949	0.53761	P	0.578	0.50118	P	0.088541	0.20475	N	0.546354	0.99438	0.23529	N	1.06	0.26948	L	1.48	0.31731	T	-0.37	0.13226	N	0.148	0.15046	-1.0612	0.11459	T	0.045	0.19152	T	10	0.006739378	0.00153	T	.	.	.	0.085	0.24743	.	.	0.351180957027	0.34734	0.36548818468653804	0.36462	0.107925270574	0.12170	0.410595804453	0.26540	T	0.013702	0.11803	T	-0.62122	0.00108	T	-0.657867	0.08411	T	0.0331743226306376	0.02500	T	0.770523	0.40040	T	0.085311	0.19784	0.06405898	0.12782	0.085311	0.19783	0.06405898	0.12781	-4.211	0.26910	T	.	.	0.100	0.17016	B	.	.	3.035764	0.40681	21.2	0.99150272530680472	0.53793	0.49442	0.28434	N	AEFGBI	0.286406	0.39880	N	0.156166948403956	0.49103	3.114588	0.218040320419467	0.50849	3.272688	0.749452611316954	0.23336	0.497415	0.19182	0	0.547309	0.14657	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.96	5.96	0.96695	1.271000	0.32700	11.862000	0.98348	0.676000	0.76740	0.030000	0.20431	1.000000	0.68203	0.986000	0.61781	0.0824:0.0:0.9176:0.0	11.211	0.48028	354	0.85282	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1959.98	38	chr3	121623083	.	G	C	1959.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.73;DP=906;ExcessHet=0.0000;FS=3.958;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.00;ReadPosRankSum=-7.880e-01;SOR=0.448	GT:AD:DP:GQ:PL	0/1:69,71:140:99:1974,0,1709	20	0	1	0
chr3	121697608	121697608	C	T	exonic	GOLGB1	.	nonsynonymous SNV	GOLGB1:NM_001256488:exon12:c.G2675A:p.S892N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.47	T	0.003	B	0.006	B	0.408	N	1.000	N	1.39	L	2.45	T	-1.002	T	0.036	T	0.11	-1.422	0.021	-1.89	-0.182	-1.460	2.032	0.010	0.0055666730905	.	.	0.0002	0	0	0	0	0.0004	0	0	0.0001746	27	154602	rs778004960	6.574e-05	6.636e-05	7.359e-05	5.78e-05	8.457e-05	5.5e-05	5.112e-05	7.05e-05	6.543e-05	2.998e-05	0	0	0	0	0	8.457e-05	1.657e-05	0	1.316e-05	1.314e-05	1.286e-05	1.347e-05	2.942e-05	2.19e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.942e-05	0	0	0.261	0.16738	T	0.371	0.16425	T	0.001	0.07471	B	0.003	0.08700	B	0.408103	0.13033	N	0.739273	1	0.08975	N	1.2	0.30300	L	2.45	0.24472	T	-0.05	0.13418	N	0.083	0.05929	-1.0015	0.29488	T	0.036	0.15334	T	10	0.038387537	0.02253	T	0.005567	0.14379	T	0.010	0.01040	.	.	0.170165803431	0.16609	0.037615456697216235	0.03707	0.0975493673825	0.11016	0.338142246008	0.16160	T	0.011343	0.10136	T	-0.518972	0.00446	T	-0.687051	0.06562	T	0.355778306722641	0.27244	T	0.69713	0.36376	T	0.025965443	0.01596	0.04456666	0.05802	0.025965443	0.01595	0.04456666	0.05802	-3.888	0.22948	T	.	.	0.068	0.03372	B	.;.;.;.	.;.;.;.	-0.165862	0.03270	0.558	0.56106229042003131	0.05481	0.03532	0.08721	N	AEFBI	0.039459	0.05734	N	-1.19125646828008	0.05132	0.2332122	-1.23530746019028	0.05352	0.2547985	0.0878450262559025	0.16045	0.706548	0.73137	0	0.724815	0.89359	0	0.65145	0.50148	0	0.714379	0.83352	0	.	.	5.35	-1.89	0.07271	-2.009000	0.01544	-0.178000	0.11160	-0.176000	0.10722	0.000000	0.06391	0.020000	0.20764	0.881000	0.42162	0.1378:0.2768:0.1232:0.4621	2.032	0.03317	398	0.82839	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.4118	1321.45	117	chr3	121697608	.	C	T	1321.45	.	AC=14;AF=0.412;AN=34;BaseQRankSum=-2.821e+00;DP=2409;ExcessHet=14.4320;FS=218.851;InbreedingCoeff=-0.6164;MLEAC=16;MLEAF=0.471;MQ=60.00;MQRankSum=0.00;QD=0.83;ReadPosRankSum=0.342;SOR=12.895	GT:AD:DP:GQ:PL	0/1:72,34:106:97:97,0,1455	3	0	14	4
chr3	130379796	130379796	C	T	exonic	COL6A5	.	nonsynonymous SNV	COL6A5:NM_001278298:exon4:c.C1046T:p.P349L	.	.	428	1044	47	3	0	53	0.0247548	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.29	T	0.696	P	0.283	B	.	.	1.000	N	1.79	L	-1.69	D	-0.446	T	0.458	T	0.173	2.298	13.64	5.34	2.503	1.076	12.876	0.228	.	.	0.00199681	0.0131	0.0005	0.0049	0	0	0.0039	0.0158	0.0279	0.0021539	333	154602	rs142949552	0.0030	0.0028	0.0023	0.0037	0.0240	0.0029	0.0029	0.0231	0.0227	0.0006	0.0015	0.0040	5.597e-05	0.0002	0.0226	0.0016	0.0043	0.0240	0.0021	0.0021	0.0019	0.0024	0.0204	0.0019	0.0019	0.0171	0.0159	0.0004	0	0.0015	0.0063	0	0.0005	0.0170	0.0021	0.0047	0.0204	0.017	0.51248	D	0.001	0.83351	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	-1.69	0.82985	D	-3.96	0.73579	D	0.058	0.02964	-0.4461	0.70529	T	0.458	0.78901	T	9	0.005708158	0.00127	T	.	.	.	0.228	0.52768	.	.	.	.	0.41726518107133853	0.41642	0.188780204204	0.21197	0.303890168667	0.10984	T	0.18915	0.54328	T	-0.378357	0.03190	T	-0.297336	0.45005	T	0.0376475582209328	0.03269	T	0.787421	0.42665	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.126	0.26545	B	.	.	2.481712	0.32005	18.91	0.99593865867800668	0.73748	0.12434	0.17266	N	AEFDBI	0.155089	0.28022	N	-0.088144379818127	0.37910	2.212591	-0.0915332530468588	0.35738	2.071255	0.999450908489858	0.39788	0.742599	0.98188	0	0.588764	0.42986	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	5.34	5.34	0.75982	0.554000	0.23113	4.837000	0.45250	0.599000	0.40250	0.000000	0.06391	0.542000	0.25421	0.150000	0.20306	0.163:0.8369:0.0:0.0	12.876	0.57381	402	0.82617	von Willebrand factor, type A|von Willebrand factor, type A|von Willebrand factor, type A	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.09524	8044.92	39	chr3	130379796	.	C	T	8044.92	.	AC=4;AF=0.095;AN=42;BaseQRankSum=-1.680e+00;DP=1213;ExcessHet=0.6776;FS=0.000;InbreedingCoeff=-0.1053;MLEAC=4;MLEAF=0.095;MQ=60.00;MQRankSum=0.00;QD=14.44;ReadPosRankSum=-7.440e-01;SOR=0.692	GT:AD:DP:GQ:PL	0/1:69,103:172:99:2886,0,1877	17	0	4	0
chr3	130421335	130421335	G	A	exonic	COL6A5	.	nonsynonymous SNV	COL6A5:NM_001278298:exon27:c.G5012A:p.G1671E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	.	.	0.724	D	2.525	M	-6.28	D	1.094	D	0.984	D	0.964	2.130	13.08	5.29	2.648	4.837	14.806	0.794	0.167130559847	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.003	0.76473	D	.	.	.	.	.	.	.	.	.	.	0.723514	0.33642	D	.	.	.	-6.28	0.99614	D	-5.87	0.88630	D	0.94	0.94668	1.094	0.99395	D	0.984	0.99521	D	9	0.985523	0.98809	D	0.167131	0.84557	D	0.794	0.93227	0.951	0.99428	0.644124591191	0.64118	0.9735298133118696	0.97341	0.262336419958	0.28795	0.683480918407	0.64769	T	0.416298	0.76929	T	0.521063	0.94919	D	0.510694	0.94844	D	0.997076034545898	0.90711	D	0.920008	0.71084	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.836	0.79050	P	.	.	5.173918	0.86733	29.0	0.99152888611040157	0.53875	0.94007	0.59833	D	AEFBI	0.669031	0.63661	D	0.704442869841399	0.79923	7.181635	0.635508156860711	0.77535	6.698256	0.245493615527667	0.18621	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.29	5.29	0.74430	4.437000	0.59698	11.608000	0.93525	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.960000	0.51673	0.0:0.0:1.0:0.0	14.806	0.69579	369	0.84396	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.5	5242.03	42	chr3	130421335	.	G	A,C,*	5242.03	.	AC=4,10,1;AF=0.133,0.333,0.033;AN=30;BaseQRankSum=-1.383e+00;DP=1214;ExcessHet=18.9861;FS=227.116;InbreedingCoeff=-0.7500;MLEAC=5,12,1;MLEAF=0.167,0.400,0.033;MQ=60.00;MQRankSum=0.00;QD=5.72;ReadPosRankSum=0.500;SOR=11.284	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:48,0,36,0:84:99:0|1:130421335_G_C:652,795,2392,0,1597,1494,795,2392,1597,2392:130421335	0	0	4	6
chr3	130421335	130421335	G	C	exonic	COL6A5	.	nonsynonymous SNV	COL6A5:NM_001278298:exon27:c.G5012C:p.G1671A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	1.0	D	1.0	D	.	.	0.511	D	2.525	M	-6.27	D	1.074	D	0.984	D	0.872	2.027	12.73	5.29	2.648	4.837	14.806	0.734	0.176336760823	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0.0050	0.0002	0.0002	0.0003	0.0002	0.0002	0.0002	0.0002	0.0003	0	4.02e-05	5.624e-05	0	0	0.0002	0.0001	5.098e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.011	0.64786	D	.	.	.	.	.	.	.	.	.	.	0.511236	0.31821	D	.	.	.	-6.27	0.99601	D	-4.41	0.77391	D	0.838	0.83371	1.074	0.98698	D	0.984	0.99524	D	9	0.9859581	0.98878	D	0.176337	0.85213	D	0.734	0.90721	0.961	0.99598	0.862445812811	0.86111	0.899606335700418	0.89932	0.247077292364	0.27244	0.620524644852	0.55803	T	0.407117	0.76282	T	0.482482	0.93793	D	0.455275	0.93714	D	0.994999051094055	0.86650	D	0.931207	0.74412	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.470	0.63186	A	.	.	5.124875	0.85741	28.7	0.99596083398483337	0.73925	0.95070	0.63328	D	AEFBI	0.655440	0.62778	D	0.702238441851499	0.79779	7.150365	0.633624628633071	0.77398	6.671322	0.245493615527667	0.18621	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.29	5.29	0.74430	4.437000	0.59698	11.608000	0.93525	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.960000	0.51673	0.0:0.0:1.0:0.0	14.806	0.69579	369	0.84396	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.5	5242.03	42	chr3	130421335	.	G	A,C,*	5242.03	.	AC=4,10,1;AF=0.133,0.333,0.033;AN=30;BaseQRankSum=-1.383e+00;DP=1214;ExcessHet=18.9861;FS=227.116;InbreedingCoeff=-0.7500;MLEAC=5,12,1;MLEAF=0.167,0.400,0.033;MQ=60.00;MQRankSum=0.00;QD=5.72;ReadPosRankSum=0.500;SOR=11.284	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:48,0,36,0:84:99:0|1:130421335_G_C:652,795,2392,0,1597,1494,795,2392,1597,2392:130421335	0	0	4	6
chr3	130421335	130421335	G	0	exonic	COL6A5	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	5242.03	42	chr3	130421335	.	G	A,C,*	5242.03	.	AC=4,10,1;AF=0.133,0.333,0.033;AN=30;BaseQRankSum=-1.383e+00;DP=1214;ExcessHet=18.9861;FS=227.116;InbreedingCoeff=-0.7500;MLEAC=5,12,1;MLEAF=0.167,0.400,0.033;MQ=60.00;MQRankSum=0.00;QD=5.72;ReadPosRankSum=0.500;SOR=11.284	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:48,0,36,0:84:99:0|1:130421335_G_C:652,795,2392,0,1597,1494,795,2392,1597,2392:130421335	0	0	4	6
chr3	130421337	130421337	T	C	exonic	COL6A5	.	nonsynonymous SNV	COL6A5:NM_001278298:exon27:c.T5014C:p.F1672L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.42	T	0.916	P	0.583	P	.	.	0.994	N	2.525	M	-3.16	D	-0.023	T	0.759	D	0.237	2.052	12.82	1.49	0.394	1.106	3.899	0.345	0.0596216124172	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0006	0.0065	0.0007	0.0006	0.0008	0.0006	0.0006	0.0008	0.0007	0.0006	0	0.0001	0.0002	0	0	0.0008	0.0005	0.0001	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.063	0.36709	T	0.041	0.50514	D	.	.	.	.	.	.	.	.	.	.	0.994102	0.23586	N	.	.	.	-3.21	0.93291	D	-4.25	0.76094	D	0.346	0.38746	-0.0234	0.81768	T	0.759	0.91798	D	9	0.33778954	0.50895	T	0.059622	0.67727	D	0.345	0.66676	0.293	0.25560	0.772553812157	0.77047	0.6545526502865353	0.65391	0.0445941632002	0.04821	0.518319308758	0.41390	T	0.066183	0.32881	T	0.0586812	0.59446	T	-0.153485	0.58935	T	0.887333691120148	0.53783	D	0.69513	0.30474	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.712	0.73446	P	.	.	3.513518	0.49220	22.7	0.9944396451167653	0.64921	0.69566	0.34238	D	AEFBI	0.198693	0.32554	N	0.0829394031833179	0.45667	2.819489	0.0156810835164205	0.40442	2.413623	1.72206950552093E-5	0.02871	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.29	1.49	0.21966	0.820000	0.26979	1.068000	0.23780	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.977000	0.56843	0.1594:0.1801:0.0:0.6605	3.899	0.08653	369	0.84396	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.5	5430.93	51	chr3	130421337	.	T	C,*	5430.93	.	AC=14,1;AF=0.467,0.033;AN=30;BaseQRankSum=0.613;DP=1245;ExcessHet=17.4423;FS=223.593;InbreedingCoeff=-0.7500;MLEAC=17,1;MLEAF=0.567,0.033;MQ=60.00;MQRankSum=0.00;QD=5.88;ReadPosRankSum=0.198;SOR=11.312	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:48,36,0:84:99:0|1:130421335_G_C:652,0,1494,795,1597,2392:130421335	0	0	14	6
chr3	130421337	130421337	T	0	exonic	COL6A5	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	5430.93	51	chr3	130421337	.	T	C,*	5430.93	.	AC=14,1;AF=0.467,0.033;AN=30;BaseQRankSum=0.613;DP=1245;ExcessHet=17.4423;FS=223.593;InbreedingCoeff=-0.7500;MLEAC=17,1;MLEAF=0.567,0.033;MQ=60.00;MQRankSum=0.00;QD=5.88;ReadPosRankSum=0.198;SOR=11.312	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:48,36,0:84:99:0|1:130421335_G_C:652,0,1494,795,1597,2392:130421335	0	0	14	6
chr3	138474353	138474353	G	T	splicing	ESYT3	NM_001322834:exon20:c.2468+1G>T;NM_001322831:exon20:c.2468+1G>T;NM_031913:exon20:c.2468+1G>T	.	.	.	.	.	.	.	.	.	.	.	1.0000	0.936	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.000	D	.	.	.	.	.	.	.	.	.	4.241	22.1	4.98	2.579	8.525	15.788	.	.	.	.	8.594e-06	0	8.666e-05	0	0	0	0	0	1.29e-05	2	154602	rs201503175	2.02e-05	1.984e-05	1.247e-05	2.803e-05	0.0021	1.417e-05	1.225e-05	0.0012	0.0010	0	5.418e-05	4.1e-05	0	0	0.0021	1.177e-05	1.692e-05	0	6.57e-06	6.566e-06	0	1.345e-05	.	0	0	.	.	0	0	0	0	0	0	0	0	0.0005	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.306212	0.83458	D	0.389887	0.91775	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.941619	0.94132	33	0.995599547332089	0.71707	0.98585	0.84383	D	AEFDBIJ	.	.	.	1.18893261641864	0.99442	22.75722	1.02981241683123	0.99124	20.793	0.999999999984642	0.74766	0.078448	0.01964	0	0.059962	0.00310	0	0.083675	0.02720	0	0.062806	0.01542	0	0.987779	0.96337	4.98	4.98	0.65679	8.943000	0.92528	11.545000	0.93151	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.966000	0.53164	0.0:0.0:1.0:0.0	15.788	0.78097	355	0.85216	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2144.98	38	chr3	138474353	.	G	T	2144.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.29;DP=1016;ExcessHet=0.0000;FS=4.723;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.41;ReadPosRankSum=1.68;SOR=0.425	GT:AD:DP:GQ:PL	0/1:72,88:160:99:2159,0,1631	20	0	1	0
chr3	148865549	148865549	G	A	splicing	CPA3	NM_001870:exon2:c.144+1G>A	.	.	.	.	432	1088	2	0	0	2	0.000918274	1.0000	0.936	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.000	D	.	.	.	.	.	.	.	.	.	3.503	17.91	6.17	2.941	5.154	19.651	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1468239691	2.739e-06	2.736e-06	4.088e-06	1.376e-06	0.0002	6.4e-07	4.3e-07	.	.	0	2.242e-05	0	0	0	0.0002	9e-07	0	1.162e-05	6.577e-06	6.569e-06	0	1.347e-05	2.416e-05	0	0	.	.	2.416e-05	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.387591	0.89184	D	0.401837	0.92172	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.232334	0.87830	29.4	0.99487275681122156	0.67235	0.98313	0.81530	D	AEFBIJ	.	.	.	1.1433532171453	0.98859	19.647	1.00541625640445	0.98730	19.17642	0.999932430513101	0.46732	0.06567	0.01388	0	0.085267	0.02369	0	0.060301	0.00762	0	0.075334	0.01956	0	0.979767	0.84597	6.17	6.17	0.99707	5.224000	0.65119	8.367000	0.77040	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.878000	0.41950	0.0:0.0:1.0:0.0	19.651	0.95800	543	0.72751	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1306.98	38	chr3	148865549	.	G	A	1306.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.08;DP=847;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.94;ReadPosRankSum=-1.282e+00;SOR=0.685	GT:AD:DP:GQ:PL	0/1:48,53:101:99:1321,0,994	20	0	1	0
chr3	148883652	148883652	G	C	exonic	CPA3	.	nonsynonymous SNV	CPA3:NM_001870:exon9:c.G818C:p.R273P,	.	.	442	1072	7	1	0	9	0.00418021	.	.	720246	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.17	T	0.979	D	0.8	P	0.000	D	0.669	N	1.145	L	2.63	T	-1.114	T	0.023	T	0.072	3.563	18.17	2.88	1.205	1.792	9.504	0.120	.	0.0077	0.00379393	0.0063	0.0020	0.0074	0	0.0039	0.0086	0.0066	0.0033	0.0063324	979	154602	rs143184657	0.0089	0.0089	0.0090	0.0088	0.0103	0.0088	0.0087	0.0102	0.0101	0.0012	0.0073	0.0078	0	0.0028	0.0021	0.0103	0.0089	0.0028	0.0069	0.0069	0.0074	0.0064	0.0126	0.0066	0.0064	0.0112	0.0106	0.0016	0.0186	0.0126	0.0078	0	0.0041	0	0.0098	0.0119	0.0023	0.024	0.47745	D	0.048	0.48594	D	0.979	0.59044	D	0.8	0.58175	P	0.000123	0.49741	D	0.176841	0.668884	0.30382	N	1.69	0.43327	L	2.63	0.12884	T	-0.69	0.19720	N	0.205	0.22742	-1.1139	0.02755	T	0.023	0.09650	T	10	0.024446815	0.00673	T	.	.	.	0.120	0.33359	.	.	0.505826522194	0.50221	0.5931420028036174	0.59244	0.128944065121	0.14542	0.222938448191	0.01486	T	0.052759	0.29251	T	-0.630723	0.00095	T	-0.668379	0.07712	T	0.0359230033210683	0.02967	T	0.560444	0.19591	T	0.3036503	0.53230	0.28608027	0.54614	0.3036503	0.53230	0.28608027	0.54613	-5.667	0.43399	T	.	.	0.217	0.44720	B	.	.	2.399741	0.30830	18.56	0.98346845897002477	0.40497	0.90399	0.51544	D	AEFBI	0.522596	0.54654	D	-0.0217027367971859	0.40875	2.43498	-0.123594230243295	0.34441	1.981173	0.676360530176365	0.22430	0.632932	0.41330	0	0.573888	0.26702	0	0.573888	0.23631	0	0.755437	0.99637	0	.	.	4.77	2.88	0.32617	1.934000	0.39793	-0.241000	0.10591	0.618000	0.50648	0.943000	0.32764	0.000000	0.08366	0.018000	0.11154	0.0829:0.1437:0.7733:0.0	9.504	0.38201	545	0.72614	Peptidase M14, carboxypeptidase A|Peptidase M14, carboxypeptidase A|Carboxypeptidase B, carboxypeptidase domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1214.98	35	chr3	148883652	.	G	C	1214.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.80;DP=791;ExcessHet=0.0000;FS=3.667;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.75;ReadPosRankSum=-1.602e+00;SOR=1.126	GT:AD:DP:GQ:PL	0/1:66,47:113:99:1229,0,1607	20	0	1	0
chr3	154122651	154122651	T	A	exonic	ARHGEF26	.	nonsynonymous SNV	ARHGEF26:NM_001251962:exon2:c.T659A:p.L220Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.34	T	0.983	D	0.799	P	0.020	N	1.000	N	0.805	L	2.11	T	-0.978	T	0.151	T	0.373	1.738	11.77	5.04	1.878	0.898	7.605	0.130	0.046036142641	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.72154	D	0.589	0.08594	T	0.983	0.60381	D	0.694	0.53938	P	0.019636	0.27215	N	0.298102	1	0.08975	N	1.935	0.51832	L	0.34	0.62459	T	-1.12	0.34795	N	0.187	0.27792	-0.9777	0.35526	T	0.151	0.47926	T	10	0.16086826	0.30189	T	0.046036	0.62267	D	0.130	0.35528	0.209	0.12639	0.514299272149	0.51072	0.35687861656628456	0.35601	0.105421430859	0.11918	0.451393961906	0.32134	T	0.001575	0.01012	T	-0.0336616	0.46883	T	-0.286129	0.46174	T	0.616129398345947	0.37048	D	0.719828	0.34112	T	0.27985018	0.51034	0.24820176	0.50366	0.27985018	0.51034	0.24820176	0.50365	-2.852	0.10508	T	.	.	0.073	0.28057	B	.;.;.;.	.;.;.;.	2.639800	0.34344	19.60	0.98399974122908818	0.41052	0.47622	0.28024	N	AEFBCI	0.097924	0.19743	N	0.0129925985260795	0.42445	2.557575	-0.0232631298153767	0.38666	2.281353	0.999986849368868	0.51787	0.652421	0.48094	0	0.563428	0.19063	0	0.64067	0.45733	0	0.56751	0.32155	0	.	.	5.04	5.04	0.67293	0.629000	0.24229	2.254000	0.31710	0.665000	0.62972	0.952000	0.33172	1.000000	0.68203	0.937000	0.47636	0.0:0.1633:0.0:0.8367	7.605	0.27267	758	0.50837	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1429.98	37	chr3	154122651	.	T	A	1429.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.030e-01;DP=920;ExcessHet=0.0000;FS=1.341;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.51;ReadPosRankSum=-1.585e+00;SOR=0.766	GT:AD:DP:GQ:PL	0/1:73,63:136:99:1444,0,1745	20	0	1	0
chr3	155853645	155853645	G	A	exonic	SLC33A1	.	nonsynonymous SNV	SLC33A1:NM_001190992:exon1:c.C353T:p.P118L	Congenital cataracts, hearing loss, and neurodegeneration, Autosomal recessive;Spastic paraplegia 42, autosomal dominant, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	2825036	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.000	D	1.000	D	3.69	H	-1.41	T	0.779	D	0.787	D	0.924	5.278	33	5.57	2.788	7.646	19.982	0.916	0.180330631785	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.048477	1	0.81001	D	4.29	0.98219	H	-1.41	0.80560	T	-9.7	0.98602	D	0.933	0.93841	0.779	0.94149	D	0.787	0.92761	D	10	0.9592407	0.95314	D	0.180331	0.85482	D	0.916	0.97814	0.831	0.94042	0.971361032142	0.97104	0.9490389787202539	0.94886	2.26454559714	0.96209	0.848731040955	0.89423	D	0.814515	0.95400	D	0.434457	0.91756	D	0.386291	0.91653	D	0.999908089637756	0.99629	D	0.999721	0.99933	D	0.9729656	0.98529	0.93255115	0.97270	0.9729656	0.98529	0.93255115	0.97270	-13.696	0.92027	D	0.9927983798285628	0.99830	0.978	0.91951	P	.;.;.;.	.;.;.;.	5.608546	0.92513	32	0.9991421996857478	0.98309	0.83916	0.43007	D	AEFDBCI	.	.	.	1.03282578913964	0.96667	14.98475	0.957979052715463	0.97636	16.478	1.0	0.98316	0.542737	0.22433	0	0.52208	0.09955	0	0.685571	0.62057	0	0.56214	0.19341	0	.	.	5.57	5.57	0.84021	7.744000	0.83944	11.860000	0.98299	0.675000	0.71128	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.0:0.0:1.0:0.0	19.982	0.97333	839	0.37672	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.3235	3698.37	37	chr3	155853645	.	G	A,C	3698.37	.	AC=2,9;AF=0.059,0.265;AN=34;BaseQRankSum=-3.879e+00;DP=2059;ExcessHet=7.7275;FS=226.061;InbreedingCoeff=-0.4474;MLEAC=2,10;MLEAF=0.059,0.294;MQ=60.00;MQRankSum=0.00;QD=2.91;ReadPosRankSum=1.31;SOR=11.670	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:91,0,24:115:95:.:.:95,364,3052,0,2688,2621	6	0	2	4
chr3	155853645	155853645	G	C	exonic	SLC33A1	.	nonsynonymous SNV	SLC33A1:NM_001190992:exon1:c.C353G:p.P118R	Congenital cataracts, hearing loss, and neurodegeneration, Autosomal recessive;Spastic paraplegia 42, autosomal dominant, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	1016191	Hereditary_spastic_paraplegia_42	MONDO:MONDO:0012928,MedGen:C2675528,OMIM:612539,Orphanet:171863	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.000	D	1.000	D	3.69	H	-1.41	T	0.779	D	0.787	D	0.955	4.886	28.0	5.57	2.788	7.646	19.982	0.936	0.221168805032	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0007	0.0016	0.0008	0.0007	0.0009	0.0007	0.0007	0.0008	0.0008	0.0009	0	0.0003	0.0002	0	0.0002	0.0008	0.0006	0.0003	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.048477	1	0.81001	D	4.29	0.98219	H	-1.41	0.80560	T	-8.72	0.97670	D	0.955	0.96416	0.779	0.94149	D	0.787	0.92761	D	10	0.9656291	0.96041	D	0.221169	0.87793	D	0.936	0.98563	0.852	0.95318	0.981310105081	0.98110	0.9652344313428964	0.96510	2.3006740423	0.96469	0.845638930798	0.88955	D	0.814515	0.95400	D	0.434482	0.91756	D	0.386327	0.91654	D	0.999483108520508	0.97590	D	0.999658	0.99877	D	0.97771263	0.98930	0.9704348	0.99484	0.97771263	0.98930	0.9704348	0.99484	-15.861	0.97545	D	0.9924786288168476	0.99821	0.997	0.97160	P	.;.;.;.	.;.;.;.	5.657968	0.92855	33	0.99869421297510097	0.94726	0.91924	0.54558	D	AEFDBCI	.	.	.	1.03282578913964	0.96667	14.98475	0.957979052715463	0.97636	16.478	1.0	0.98316	0.542737	0.22433	0	0.52208	0.09955	0	0.685571	0.62057	0	0.56214	0.19341	0	.	.	5.57	5.57	0.84021	7.744000	0.83944	11.860000	0.98299	0.675000	0.71128	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.0:0.0:1.0:0.0	19.982	0.97333	839	0.37672	.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3235	3698.37	37	chr3	155853645	.	G	A,C	3698.37	.	AC=2,9;AF=0.059,0.265;AN=34;BaseQRankSum=-3.879e+00;DP=2059;ExcessHet=7.7275;FS=226.061;InbreedingCoeff=-0.4474;MLEAC=2,10;MLEAF=0.059,0.294;MQ=60.00;MQRankSum=0.00;QD=2.91;ReadPosRankSum=1.31;SOR=11.670	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:91,0,24:115:95:.:.:95,364,3052,0,2688,2621	6	0	2	4
chr3	157381267	157381267	G	C	exonic	VEPH1	.	nonsynonymous SNV	VEPH1:NM_001167911:exon7:c.C1016G:p.S339C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06	T	0.016	B	0.006	B	0.008	N	1.000	D	1.1	L	3.02	T	-1.085	T	0.025	T	0.19	1.903	12.32	5.47	2.569	1.889	10.655	0.047	0.00405651869442	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.706e-05	0.0015	3.271e-05	2.14e-05	3.398e-05	2.012e-05	1.762e-05	2.487e-05	2.207e-05	3.089e-05	0	0	0	0	0	3.398e-05	1.71e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.061	0.37118	T	0.094	0.39799	T	0.016	0.17332	B	0.006	0.12133	B	0.007582	0.31308	N	0.359250	0.787702	0.29261	N	1.43	0.35840	L	3.01	0.09075	T	-1.91	0.46337	N	0.318	0.36674	-1.0854	0.06335	T	0.025	0.10464	T	10	0.14302394	0.27159	T	0.004057	0.09681	T	0.047	0.12962	0.413	0.45052	0.203808441222	0.19973	0.21481885595038	0.21397	0.0389899136919	0.04147	0.438936650753	0.30431	T	0.149031	0.48786	T	-0.240838	0.15241	T	-0.583723	0.14213	T	0.213982076796247	0.21159	T	0.79972	0.44511	T	0.09153386	0.21449	0.07893088	0.17725	0.09153386	0.21449	0.07893088	0.17725	-7.287	0.56309	T	.	.	0.085	0.11269	B	.;.;.	.;.;.	3.162719	0.42862	21.6	0.91500678835389826	0.20774	0.88574	0.48565	D	AEFDBI	0.301950	0.41033	N	-0.0840343711138489	0.38093	2.225797	0.083874411417393	0.43736	2.669398	0.99938992129566	0.39415	0.706548	0.73137	0	0.588015	0.36545	0	0.696353	0.63694	0	0.714379	0.83352	0	.	.	5.47	5.47	0.80345	1.981000	0.40250	9.905000	0.82381	0.676000	0.76740	0.996000	0.39380	1.000000	0.68203	0.848000	0.40082	0.0:0.1414:0.7122:0.1463	10.655	0.44865	734	0.53889	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.25	6359.01	153	chr3	157381267	.	G	C	6359.01	.	AC=8;AF=0.250;AN=32;BaseQRankSum=-4.595e+00;DP=3537;ExcessHet=3.5521;FS=96.014;InbreedingCoeff=-0.3383;MLEAC=10;MLEAF=0.313;MQ=60.00;MQRankSum=0.00;QD=3.69;ReadPosRankSum=1.96;SOR=11.298	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:204,32:236:99:0|1:157381266_G_C:689,0,8311:157381266	8	0	8	5
chr3	157381269	157381269	G	C	exonic	VEPH1	.	nonsynonymous SNV	VEPH1:NM_001167911:exon7:c.C1014G:p.F338L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.11	T	0.986	D	0.716	P	0.000	D	1.000	D	1.78	L	2.87	T	-1.157	T	0.050	T	0.611	2.725	15.07	4.6	1.319	7.223	13.320	0.234	0.00696849747109	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.197e-05	0.0013	1.98e-05	2.414e-05	2.814e-05	1.574e-05	1.372e-05	1.996e-05	1.733e-05	0	0	0	0	0	0	2.814e-05	1.703e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.016	0.51853	D	0.075	0.43344	T	0.986	0.61523	D	0.716	0.54713	P	0.000000	0.84330	D	0.052188	0.999883	0.50402	D	1.79	0.46772	L	2.8	0.11082	T	-2.64	0.60827	D	0.629	0.64308	-1.1573	0.00823	T	0.050	0.21300	T	10	0.65501356	0.69822	D	0.006968	0.18458	T	0.234	0.53644	0.566	0.68768	0.380052290102	0.37618	0.540766503490007	0.54001	0.0497134926514	0.05451	0.693336129189	0.66186	T	0.39328	0.75273	T	-0.0694684	0.41412	T	-0.337563	0.40622	T	0.937143862247467	0.60670	D	0.890411	0.63503	D	0.3446262	0.56645	0.22055541	0.46835	0.3446262	0.56645	0.22055541	0.46834	-10.426	0.76421	D	.	.	0.981	0.91639	P	.;.;.	.;.;.	4.365249	0.67160	25.1	0.99181655721304818	0.54701	0.98496	0.83394	D	AEFDBI	0.895770	0.83615	D	0.298767961957114	0.56086	3.772896	0.29353445057777	0.55160	3.679457	0.999999819584022	0.74766	0.706548	0.73137	0	0.588015	0.36545	0	0.696353	0.63694	0	0.714379	0.83352	0	.	.	5.47	4.6	0.56512	7.371000	0.78858	5.894000	0.50799	-0.106000	0.15538	1.000000	0.71638	1.000000	0.68203	0.814000	0.38357	0.0755:0.0:0.9245:0.0	13.320	0.59864	734	0.53889	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.2353	6222.97	159	chr3	157381269	.	G	C	6222.97	.	AC=8;AF=0.235;AN=34;BaseQRankSum=-6.295e+00;DP=3622;ExcessHet=3.5521;FS=94.732;InbreedingCoeff=-0.3126;MLEAC=9;MLEAF=0.265;MQ=60.00;MQRankSum=0.00;QD=3.60;ReadPosRankSum=1.96;SOR=11.284	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:204,32:236:99:0|1:157381266_G_C:689,0,8337:157381266	9	0	8	4
chr3	157381272	157381276	GGTGT	-	exonic	VEPH1	.	frameshift deletion	VEPH1:NM_001167911:exon7:c.1007_1011del:p.D336Vfs*24	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	0.0001	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1905	5793.21	203	chr3	157381271	.	AGGTGT	A,AT	5793.21	.	AC=5,3;AF=0.119,0.071;AN=42;BaseQRankSum=-3.886e+00;DP=4123;ExcessHet=3.5521;FS=94.048;InbreedingCoeff=-0.2353;MLEAC=5,3;MLEAF=0.119,0.071;MQ=60.00;MQRankSum=0.00;QD=3.32;ReadPosRankSum=2.17;SOR=11.277	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:207,33,0:240:99:0|1:157381266_G_C:683,0,8443,1304,8541,9845:157381266	13	0	5	0
chr3	157381272	157381275	GGTG	-	exonic	VEPH1	.	frameshift deletion	VEPH1:NM_001167911:exon7:c.1008_1011del:p.T337Sfs*15	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.055e-06	0.0002	1.363e-06	2.754e-06	2.702e-06	5.5e-07	1.5e-07	7.2e-07	2e-07	0	0	0	0	0	0	2.702e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1905	5793.21	203	chr3	157381271	.	AGGTGT	A,AT	5793.21	.	AC=5,3;AF=0.119,0.071;AN=42;BaseQRankSum=-3.886e+00;DP=4123;ExcessHet=3.5521;FS=94.048;InbreedingCoeff=-0.2353;MLEAC=5,3;MLEAF=0.119,0.071;MQ=60.00;MQRankSum=0.00;QD=3.32;ReadPosRankSum=2.17;SOR=11.277	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:207,33,0:240:99:0|1:157381266_G_C:683,0,8443,1304,8541,9845:157381266	13	0	5	0
chr3	157381275	157381275	G	0	exonic	VEPH1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2143	1191.7	160	chr3	157381275	.	G	*,GCCCC	1191.7	.	AC=3,3;AF=0.107,0.107;AN=28;BaseQRankSum=-1.117e+00;DP=3156;ExcessHet=1.7912;FS=101.214;InbreedingCoeff=-0.3105;MLEAC=4,4;MLEAF=0.143,0.143;MQ=60.00;MQRankSum=0.00;QD=0.88;ReadPosRankSum=0.952;SOR=10.970	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:207,33,0:240:99:0|1:157381266_G_C:683,0,8443,1304,8541,9845:157381266	8	0	3	7
chr3	157381275	157381275	-	CCCC	exonic	VEPH1	.	frameshift insertion	VEPH1:NM_001167911:exon7:c.1007_1008insGGGG:p.D336Efs*27	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2143	1191.7	160	chr3	157381275	.	G	*,GCCCC	1191.7	.	AC=3,3;AF=0.107,0.107;AN=28;BaseQRankSum=-1.117e+00;DP=3156;ExcessHet=1.7912;FS=101.214;InbreedingCoeff=-0.3105;MLEAC=4,4;MLEAF=0.143,0.143;MQ=60.00;MQRankSum=0.00;QD=0.88;ReadPosRankSum=0.952;SOR=10.970	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:207,33,0:240:99:0|1:157381266_G_C:683,0,8443,1304,8541,9845:157381266	8	0	3	7
chr3	157381276	157381276	-	CCCCC	exonic	VEPH1	.	frameshift insertion	VEPH1:NM_001167911:exon7:c.1006_1007insGGGGG:p.D336Gfs*19	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1389	3552.87	37	chr3	157381276	.	T	TCCCCC	3552.87	.	AC=5;AF=0.139;AN=36;BaseQRankSum=-4.087e+00;DP=2099;ExcessHet=1.1607;FS=91.920;InbreedingCoeff=-0.1831;MLEAC=6;MLEAF=0.167;MQ=60.00;MQRankSum=0.00;QD=3.43;ReadPosRankSum=2.44;SOR=10.188	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:196,33:229:99:0|1:157381266_G_C:716,0,8005:157381266	13	0	5	3
chr3	169840103	169840103	G	A	exonic	LRRC31	.	nonsynonymous SNV	LRRC31:NM_001277128:exon8:c.C1370T:p.P457L	.	.	436	1082	4	0	0	4	0.00184502	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.986	D	0.73	P	0.000	D	1.000	D	0.975	L	2.93	T	-1.133	T	0.030	T	0.485	2.228	13.41	4.46	2.031	4.749	17.122	0.245	0.00981651177608	0.0012	0.00159744	0.0011	0.0004	0.0015	0	0.0002	0.0016	0	0.0002	0.0011384	176	154602	rs187788865	0.0014	0.0014	0.0014	0.0014	0.0023	0.0014	0.0014	0.0017	0.0016	0.0003	0.0021	0.0003	0	3.744e-05	0.0023	0.0017	0.0011	0.0003	0.0013	0.0013	0.0014	0.0011	0.0026	0.0011	0.0011	0.0020	0.0018	0.0008	0	0.0026	0.0012	0	0	0	0.0016	0.0014	0	0.006	0.63226	D	0.01	0.66756	D	0.986	0.61523	D	0.655	0.55268	P	0.000133	0.49741	D	0.177966	1	0.81001	D	2.135	0.59519	M	2.83	0.10771	T	-3.46	0.71639	D	0.22	0.29197	-1.1333	0.01631	T	0.030	0.13067	T	10	0.00619027	0.00139	T	0.009817	0.25608	T	0.245	0.55201	.	.	0.374076547971	0.37021	0.34966647793922967	0.34880	0.186288168603	0.20939	0.387393712997	0.23302	T	0.046135	0.27331	T	-0.414757	0.01849	T	-0.381776	0.35516	T	0.173187047243118	0.18794	T	0.841416	0.51702	T	0.22461128	0.45106	0.29310688	0.55338	0.22461128	0.45106	0.29310688	0.55338	-10.317	0.77283	D	.	.	0.113	0.22282	B	.;.	.;.	3.449170	0.48019	22.5	0.99413612032898813	0.63405	0.92199	0.55166	D	AEFBI	0.514225	0.54169	D	0.136888881416615	0.48190	3.034607	0.0471080861996934	0.41933	2.52761	0.996108358689384	0.34527	0.446893	0.09132	0	0.547309	0.14657	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	4.46	4.46	0.53567	4.849000	0.62580	5.894000	0.50799	0.676000	0.76740	0.998000	0.41325	1.000000	0.68203	0.054000	0.15518	0.0:0.0:1.0:0.0	17.122	0.86580	378	0.83833	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1447.98	42	chr3	169840103	.	G	A	1447.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-8.230e-01;DP=918;ExcessHet=0.0000;FS=0.789;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.24;ReadPosRankSum=-1.007e+00;SOR=0.570	GT:AD:DP:GQ:PL	0/1:38,57:95:99:1462,0,956	20	0	1	0
chr3	179240022	179240022	T	C	exonic	KCNMB3	.	nonsynonymous SNV	KCNMB3:NM_001163677:exon4:c.A496G:p.T166A,	.	.	763	722	33	4	0	41	0.0276094	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.28	T	0.899	P	0.395	B	.	.	1.000	D	0	N	2.26	T	-1.014	T	0.024	T	0.203	2.513	14.36	4.35	1.922	2.333	11.973	0.061	.	0.0035	0.00698882	0.0188	0	0.0122	0.0032	0.0006	0.0105	0	0.0389	0.0034088	527	154602	rs184550595	0.0073	0.0071	0.0063	0.0084	0.0414	0.0072	0.0072	0.0402	0.0397	0.0008	0.0041	0.0289	0.0003	0.0011	0.0301	0.0050	0.0094	0.0414	0.0056	0.0056	0.0049	0.0064	0.0441	0.0053	0.0052	0.0393	0.0374	0.0013	0	0.0071	0.0326	0.0004	0.0011	0.0170	0.0047	0.0133	0.0441	0.157	0.23997	T	0.038	0.51421	D	.	.	.	.	.	.	.	.	.	.	0.99799	0.81001	N	.	.	.	2.26	0.17596	T	-0.81	0.22294	N	0.111	0.09772	-1.0142	0.25593	T	0.024	0.10374	T	9	0.0035863519	0.00065	T	.	.	.	0.061	0.17616	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.562205	0.00246	T	-0.551777	0.17155	T	0.012226413319391	0.00197	T	0.29997	0.05606	T	.	.	.	.	.	.	.	.	-3.779	0.20491	T	.	.	0.137	0.29941	B	.	.	1.620727	0.20700	14.87	0.9940360828791398	0.62934	0.83452	0.42568	D	AEFGI	0.206643	0.33289	N	-0.0184429246067715	0.41021	2.446306	0.0663263132403697	0.42868	2.60055	0.677897955158269	0.22446	0.643511	0.44296	0	0.688494	0.66719	0	0.602189	0.34648	0	0.683762	0.67416	0	.	.	4.35	4.35	0.51454	3.584000	0.53680	4.174000	0.42293	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.975000	0.56047	0.0:0.0:0.0:1.0	11.973	0.52364	809	0.43032	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.07143	2702.68	37	chr3	179240022	.	T	C	2702.68	.	AC=3;AF=0.071;AN=42;BaseQRankSum=0.814;DP=872;ExcessHet=0.3300;FS=3.961;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=59.38;MQRankSum=0.00;QD=12.63;ReadPosRankSum=0.251;SOR=0.482	GT:AD:DP:GQ:PL	0/1:21,36:57:99:944,0,477	18	0	3	0
chr3	184386715	184386715	C	T	exonic	CHRD	.	nonsynonymous SNV	CHRD:NM_001304472:exon16:c.C2156T:p.A719V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.35	T	0.872	P	0.218	B	0.000	D	1.000	D	0.205	N	-0.59	T	-0.939	T	0.143	T	0.109	3.214	16.76	3.86	1.124	6.980	11.959	0.198	0.0598464350122	.	.	9.366e-05	0	0.0002	0.0007	0	1.717e-05	0	6.33e-05	6.47e-05	10	154602	rs368217568	4.178e-05	4.241e-05	3.407e-05	4.957e-05	0.0006	3.315e-05	3.005e-05	0.0004	0.0003	0	6.723e-05	0	0.0006	0	0	1.439e-05	3.317e-05	0.0002	1.314e-05	1.313e-05	1.284e-05	1.345e-05	0.0002	2.18e-06	8.2e-07	.	.	0	0	0	0	0.0002	0	0	0	0	0.0002	0.188	0.21467	T	0.329	0.18959	T	0.872	0.47902	P	0.218	0.37679	B	0.000002	0.62929	D	0.058209	0.993706	0.81001	D	1.045	0.26769	L	-0.59	0.71543	T	-1.7	0.44284	N	0.434	0.49237	-0.9391	0.42759	T	0.143	0.46569	T	10	0.25634682	0.43038	T	0.059846	0.67801	D	0.198	0.48105	0.678	0.81594	0.844637047116	0.84314	0.4174696809331187	0.41662	0.937855584435	0.72103	0.675249099731	0.63588	T	0.228	0.59318	T	-0.374113	0.03391	T	-0.404079	0.32910	T	0.0910724348585424	0.11345	T	0.869413	0.62852	D	0.1453266	0.33318	0.24061337	0.49439	0.1453266	0.33317	0.24061337	0.49438	-8.761	0.69337	D	.	.	0.159	0.48787	B	.;.;.	.;.;.	4.145059	0.62127	24.4	0.99707076710239806	0.81074	0.92600	0.56093	D	AEFDBHCI	0.856807	0.77410	D	-0.00396218213635874	0.41677	2.497096	0.105603523925658	0.44834	2.75761	0.999930023967538	0.46732	0.59774	0.34471	0	0.59043	0.45803	0	0.61531	0.40942	0	0.63947	0.58350	0	.	.	4.73	3.86	0.43689	7.113000	0.76730	5.934000	0.51367	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.970000	0.54328	0.0:0.9136:0.0:0.0864	11.959	0.52285	908	0.22609	VWFC domain|VWFC domain|VWFC domain;VWFC domain|VWFC domain|VWFC domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1316.98	37	chr3	184386715	.	C	T	1316.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.288e+00;DP=860;ExcessHet=0.0000;FS=0.705;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.86;ReadPosRankSum=-9.060e-01;SOR=0.796	GT:AD:DP:GQ:PL	0/1:54,57:111:99:1331,0,1296	20	0	1	0
chr3	185692707	185692707	T	A	exonic	IGF2BP2	.	nonsynonymous SNV	IGF2BP2:NM_001291872:exon4:c.A225T:p.E75D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06	T	0.949	P	0.696	P	0.000	D	0.999	D	1.52	L	2.56	T	-1.119	T	0.041	T	0.294	3.823	19.42	3.05	0.912	0.153	4.097	0.093	0.0122991695903	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1457354273	2.738e-06	2.736e-06	0	5.504e-06	0.0002	6.4e-07	4.3e-07	9.26e-06	4.57e-06	0	0	0	0	0	0.0002	0	0	3.487e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009	0.58626	D	0.016	0.61642	D	0.949	0.53761	P	0.696	0.54017	P	0.000004	0.62929	D	0.103502	0.99912	0.46125	D	2.395	0.69210	M	2.56	0.13673	T	-1.88	0.44094	N	0.432	0.50958	-1.1189	0.02402	T	0.041	0.17488	T	10	0.27385628	0.44937	T	0.012299	0.30749	T	0.093	0.26882	0.391	0.41443	0.565673053519	0.56230	0.5888513891379533	0.58815	1.20213456134	0.80570	0.457493901253	0.32967	T	0.125203	0.45075	T	-0.332922	0.05894	T	-0.512396	0.21068	T	0.725201368331909	0.41963	D	0.952605	0.83071	D	0.1980711	0.41696	0.20343755	0.44420	0.1980711	0.41696	0.20343755	0.44419	-8.539	0.67781	D	.	.	0.315	0.65519	B	.;.;.;.	.;.;.;.	3.787156	0.54485	23.5	0.99806818674854914	0.89085	0.97436	0.74738	D	AEFDBI	0.593472	0.58878	D	0.158210558240417	0.49202	3.123184	0.159188938697006	0.47631	2.990443	0.986420897110761	0.31061	0.706548	0.73137	0	0.586423	0.34054	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.39	3.05	0.34272	0.182000	0.16710	3.371000	0.37932	0.665000	0.62972	0.986000	0.36153	1.000000	0.68203	0.998000	0.85391	0.0:0.2434:0.1826:0.574	4.097	0.09468	848	0.35897	RNA recognition motif domain|RNA recognition motif domain|RNA recognition motif domain;RNA recognition motif domain|RNA recognition motif domain|RNA recognition motif domain;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1263.98	37	chr3	185692707	.	T	A	1263.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.303e+00;DP=803;ExcessHet=0.0000;FS=2.499;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.60;ReadPosRankSum=2.73;SOR=0.461	GT:AD:DP:GQ:PL	0/1:53,56:109:99:1278,0,1350	20	0	1	0
chr3	186150149	186150149	C	T	exonic	DGKG	.	nonsynonymous SNV	DGKG:NM_001080744:exon24:c.G2242A:p.G748R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.999	D	0.98	D	0.000	D	1.000	D	1.63	L	1.08	T	0.305	D	0.635	D	0.898	3.407	17.51	5.17	2.890	3.552	14.714	0.507	0.0756191474403	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.257	0.24767	T	0.999	0.77913	D	0.98	0.74843	D	0.000000	0.84330	D	0.053784	0.999971	0.53665	D	2.055	0.56616	M	-1.5	0.82897	D	-3.88	0.72710	D	0.593	0.61256	0.305	0.87639	D	0.635	0.87238	D	10	0.5520634	0.64311	D	0.075619	0.72333	D	0.507	0.78786	0.249	0.18602	0.933017780686	0.93233	0.7102962554381471	0.70971	0.459601170167	0.45536	0.678146123886	0.64003	T	0.346763	0.71497	T	0.357325	0.87049	D	0.275496	0.86880	D	0.992500960826874	0.83000	D	0.962804	0.86152	D	0.67087865	0.76480	0.65142685	0.79603	0.67087865	0.76481	0.65142685	0.79604	-11.673	0.83222	D	.	.	0.984	0.91905	P	.;.;.	.;.;.	4.983760	0.82574	27.8	0.99841132767212915	0.92143	0.84579	0.43662	D	AEFBI	0.591343	0.58748	D	0.639881009863553	0.75714	6.355309	0.668990091756446	0.80033	7.209598	0.991175241475773	0.32398	0.554377	0.28877	0	0.588066	0.40923	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	6.07	5.17	0.70848	3.314000	0.51653	6.028000	0.52885	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.856:0.144:0.0	14.714	0.68872	925	0.17918	.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.075	260.64	22	chr3	186150149	.	C	T,G	260.64	.	AC=2,1;AF=0.050,0.025;AN=40;BaseQRankSum=-2.888e+00;DP=691;ExcessHet=0.3300;FS=108.433;InbreedingCoeff=-0.0946;MLEAC=2,1;MLEAF=0.050,0.025;MQ=60.00;MQRankSum=0.00;QD=2.17;ReadPosRankSum=0.361;SOR=6.182	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:43,7,0:50:59:0|1:186150149_C_T:59,0,1699,188,1719,1907:186150149	17	0	2	1
chr3	186150149	186150149	C	G	exonic	DGKG	.	nonsynonymous SNV	DGKG:NM_001080744:exon24:c.G2242C:p.G748R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.999	D	0.98	D	0.000	D	1.000	D	1.63	L	1.08	T	0.305	D	0.635	D	0.898	3.284	17.03	5.17	2.890	3.552	14.714	0.509	0.0722433925333	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.257	0.24767	T	0.999	0.77913	D	0.98	0.74843	D	0.000000	0.84330	D	0.053784	0.999972	0.53665	D	2.055	0.56616	M	-1.5	0.82897	D	-3.88	0.72710	D	0.593	0.61256	0.305	0.87639	D	0.635	0.87238	D	10	0.541586	0.63750	D	0.072243	0.71480	D	0.509	0.78910	0.249	0.18602	0.933017780686	0.93233	0.710296282980216	0.70971	0.459601170167	0.45536	0.678146123886	0.64003	T	0.346763	0.71497	T	0.357322	0.87049	D	0.275492	0.86879	D	0.992132842540741	0.82542	D	0.962804	0.86152	D	0.67087865	0.76480	0.65142685	0.79603	0.67087865	0.76481	0.65142685	0.79604	-11.673	0.83222	D	.	.	0.984	0.91905	P	.;.;.	.;.;.	4.940221	0.81522	27.6	0.99863309659222388	0.94184	0.83581	0.42689	D	AEFBI	0.486162	0.52545	N	0.639881009863553	0.75714	6.355309	0.668990091756446	0.80033	7.209598	0.991175241475773	0.32398	0.554377	0.28877	0	0.588066	0.40923	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	6.07	5.17	0.70848	3.314000	0.51653	6.028000	0.52885	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.856:0.144:0.0	14.714	0.68872	925	0.17918	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.075	260.64	22	chr3	186150149	.	C	T,G	260.64	.	AC=2,1;AF=0.050,0.025;AN=40;BaseQRankSum=-2.888e+00;DP=691;ExcessHet=0.3300;FS=108.433;InbreedingCoeff=-0.0946;MLEAC=2,1;MLEAF=0.050,0.025;MQ=60.00;MQRankSum=0.00;QD=2.17;ReadPosRankSum=0.361;SOR=6.182	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:43,7,0:50:59:0|1:186150149_C_T:59,0,1699,188,1719,1907:186150149	17	0	2	1
chr3	186150150	186150150	C	G	exonic	DGKG	.	nonsynonymous SNV	DGKG:NM_001080744:exon24:c.G2241C:p.M747I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06	T	0.103	B	0.083	B	0.000	D	0.595	N	1.935	M	1.14	T	-0.851	T	0.122	T	0.548	2.696	14.98	5.19	2.890	3.560	12.944	0.123	0.0085120324625	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	6.156e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.027	0.48186	D	0.119	0.37589	T	0.103	0.25884	B	0.034	0.25434	B	0.000053	0.53742	D	0.171825	0.594779	0.30990	N	1.23	0.30720	L	1.07	0.39586	T	-1.95	0.45222	N	0.261	0.35727	-0.8513	0.51878	T	0.122	0.42272	T	10	0.17578414	0.32528	T	0.008512	0.22507	T	0.123	0.34020	0.255	0.19533	0.533276065955	0.52977	0.1464589451172773	0.14567	0.117119508686	0.13201	0.534925818443	0.43728	T	0.116513	0.43590	T	-0.0731769	0.40820	T	-0.34289	0.40017	T	0.780353784561157	0.45072	D	0.923208	0.72041	D	0.3366612	0.56012	0.30383834	0.56414	0.3366612	0.56012	0.30383834	0.56413	-6.908	0.53358	T	.	.	0.370	0.59948	A	.;.;.	.;.;.	3.868216	0.56145	23.7	0.99043586559296637	0.51073	0.88944	0.49124	D	AEFBI	0.615783	0.60259	D	0.181705937295168	0.50321	3.223196	0.343357321105073	0.58108	3.979573	0.991815421124812	0.32618	0.554377	0.28877	0	0.588066	0.40923	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	6.07	5.19	0.71428	3.320000	0.51702	5.982000	0.52185	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.9229:0.0:0.0771	12.944	0.57756	925	0.17918	.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1071	277.02	22	chr3	186150150	.	C	G	277.02	.	AC=3;AF=0.107;AN=28;BaseQRankSum=-1.574e+00;DP=616;ExcessHet=0.3300;FS=108.433;InbreedingCoeff=-0.1922;MLEAC=4;MLEAF=0.143;MQ=60.00;MQRankSum=0.00;QD=2.31;ReadPosRankSum=0.292;SOR=6.182	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:43,7:50:59:0|1:186150149_C_T:59,0,1699:186150149	11	0	3	7
chr3	186150151	186150151	A	G	exonic	DGKG	.	nonsynonymous SNV	DGKG:NM_001080744:exon24:c.T2240C:p.M747T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06	T	0.945	P	0.652	P	0.000	D	0.650	N	1.59	L	1.05	T	-0.791	T	0.136	T	0.768	2.004	12.66	4.9	2.330	4.437	10.270	0.143	0.0148488252476	.	.	9.186e-06	0.0001	0	0	0	0	0	0	6.5e-06	1	154602	rs764536140	0	3.426e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	6.577e-06	6.569e-06	1.286e-05	0	2.415e-05	0	0	.	.	2.415e-05	0	0	0	0	0	0	0	0	0	0.025	0.47320	D	0.128	0.34959	T	0.945	0.53279	P	0.652	0.52532	P	0.000053	0.53742	D	0.171825	0.649523	0.30545	N	1.43	0.35840	L	1.05	0.42122	T	-3.04	0.62863	D	0.333	0.40665	-0.7914	0.55648	T	0.136	0.45068	T	10	0.20008764	0.36043	T	0.014849	0.35231	T	0.143	0.38195	.	.	0.672509336206	0.66973	0.306322739120449	0.30545	0.213405914334	0.23852	0.605171561241	0.53635	T	0.326708	0.69729	T	-0.0883631	0.38348	T	-0.182557	0.56287	T	0.235707968511018	0.22221	T	0.868613	0.57103	D	0.31741124	0.54420	0.39021182	0.63821	0.31741124	0.54420	0.39021182	0.63821	-8.677	0.67737	D	.	.	0.402	0.59694	A	.;.;.	.;.;.	4.251704	0.64538	24.7	0.9490986179220593	0.25771	0.83225	0.42360	D	AEFBI	0.477544	0.52049	N	0.334716964098364	0.57937	3.963371	0.433533912674598	0.63668	4.605017	0.945156828995575	0.27648	0.554377	0.28877	0	0.588066	0.40923	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	6.07	4.9	0.63643	4.150000	0.57871	7.078000	0.57462	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.9229:0.0:0.0771:0.0	10.270	0.42656	925	0.17918	.;.;.	.	.	.	.	.	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	0.1364	283.21	22	chr3	186150151	.	A	G	283.21	.	AC=3;AF=0.136;AN=22;BaseQRankSum=0.482;DP=674;ExcessHet=0.3300;FS=108.433;InbreedingCoeff=-0.2522;MLEAC=5;MLEAF=0.227;MQ=60.00;MQRankSum=0.00;QD=2.36;ReadPosRankSum=0.400;SOR=6.182	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:43,7:50:59:0|1:186150149_C_T:59,0,1699:186150149	8	0	3	10
chr3	186150153	186150153	C	T	exonic	DGKG	.	nonsynonymous SNV	DGKG:NM_001080744:exon24:c.G2238A:p.M746I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.203	B	0.103	B	0.000	D	0.686	D	0.345	N	1.14	T	-0.940	T	0.073	T	0.621	2.956	15.85	5.15	2.890	2.509	14.119	0.147	0.00716069773726	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1316598159	4.106e-06	4.788e-06	2.723e-06	5.503e-06	4.646e-05	1.48e-06	9.7e-07	1.585e-05	9.31e-06	0	0	0	0	0	0	1.799e-06	0	4.646e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009	0.57480	D	0.047	0.49942	D	0.129	0.29776	B	0.048	0.30945	B	0.000000	0.84330	D	0.054506	0.685643	0.33277	D	0	0.06538	N	1.12	0.38718	T	-0.49	0.15578	N	0.358	0.43706	-0.9400	0.42616	T	0.073	0.29451	T	10	0.20374998	0.36542	T	0.007161	0.18979	T	0.147	0.38986	0.471	0.54537	0.50231727954	0.49869	0.22313296652622322	0.22228	0.117119508686	0.13201	0.541229844093	0.44619	T	0.101549	0.40842	T	-0.117391	0.33552	T	-0.305771	0.44111	T	0.632440745830536	0.37719	D	0.942106	0.78341	D	0.3923809	0.60201	0.370535	0.62301	0.3923809	0.60201	0.370535	0.62301	-6.384	0.50533	T	.	.	0.623	0.69824	P	.;.;.	.;.;.	3.760810	0.53956	23.4	0.99145279129296304	0.53655	0.78554	0.38773	D	AEFBI	0.426090	0.49059	N	0.0128850235206089	0.42440	2.557199	0.226490686576771	0.51322	3.315765	0.987021974713628	0.31170	0.554377	0.28877	0	0.588066	0.40923	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	6.07	5.15	0.70287	3.276000	0.51350	5.962000	0.51841	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.8496:0.1504:0.0	14.119	0.64705	925	0.17918	.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	44.98	23	chr3	186150153	.	C	T	44.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.691e+00;DP=713;ExcessHet=0.0000;FS=29.340;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=0.90;ReadPosRankSum=1.15;SOR=4.163	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:43,7:50:59:0|1:186150149_C_T:59,0,1699:186150149	20	0	1	0
chr3	186150154	186150154	A	G	exonic	DGKG	.	nonsynonymous SNV	DGKG:NM_001080744:exon24:c.T2237C:p.M746T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.846	P	0.429	B	0.000	D	0.875	D	0.345	N	0.98	T	-0.918	T	0.083	T	0.854	2.797	15.31	6.07	2.330	6.079	14.151	0.267	0.0113897253496	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.001	0.83351	D	0.761	0.46778	P	0.247	0.45365	B	0.000000	0.84330	D	0.054506	0.874822	0.35633	D	0	0.06538	N	0.98	0.44065	T	-2.52	0.54702	D	0.59	0.61087	-0.9179	0.45837	T	0.083	0.32700	T	10	0.59664446	0.66679	D	0.01139	0.28966	T	0.267	0.58126	0.467	0.53891	0.725794833255	0.72336	0.5775988565414328	0.57688	0.213405914334	0.23852	0.628588140011	0.56944	T	0.406797	0.76259	T	0.145356	0.68831	D	-0.0289822	0.68437	D	0.751048252518951	0.43343	D	0.929107	0.73907	D	0.7295813	0.79700	0.7470182	0.85047	0.7295813	0.79701	0.7470182	0.85048	-10.436	0.78984	D	.	.	0.953	0.87226	P	.;.;.	.;.;.	3.929375	0.57419	23.9	0.98771675618457933	0.45986	0.94939	0.62857	D	AEFBI	0.760448	0.69847	D	0.332478347119631	0.57823	3.951226	0.476932083560534	0.66463	4.955535	0.999886462381541	0.44867	0.554377	0.28877	0	0.588066	0.40923	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	6.07	6.07	0.98675	5.752000	0.68375	11.256000	0.90911	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	1.0:0.0:0.0:0.0	14.151	0.64919	925	0.17918	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	44.98	31	chr3	186150154	.	A	G	44.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.920e+00;DP=784;ExcessHet=0.0000;FS=29.340;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=0.90;ReadPosRankSum=1.26;SOR=4.163	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:43,7:50:59:0|1:186150149_C_T:59,0,1699:186150149	20	0	1	0
chr3	186651237	186651237	G	T	exonic	FETUB	.	nonsynonymous SNV	FETUB:NM_001308079:exon4:c.G521T:p.G174V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.000	D	0.999	D	2.74	M	1.83	T	-0.751	T	0.176	T	0.948	2.822	15.40	4.06	2.554	4.162	12.031	0.430	0.0335160885958	.	.	8.428e-06	0	0	0	0	1.537e-05	0	0	1.29e-05	2	154602	rs770529330	2.054e-05	2.052e-05	2.043e-05	2.064e-05	2.61e-05	1.457e-05	1.264e-05	1.831e-05	1.583e-05	0	0	0	0	0	0	2.61e-05	0	1.16e-05	3.287e-05	3.284e-05	2.571e-05	4.036e-05	4.828e-05	1.261e-05	7.98e-06	1.171e-05	6.25e-06	4.828e-05	0	0	0	0	0	0	4.411e-05	0	0	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000023	0.55875	D	0.000000	0.999207	0.46326	D	2.815	0.81989	M	1.83	0.24841	T	-7.45	0.94899	D	0.812	0.84505	-0.7515	0.57857	T	0.176	0.52006	T	10	0.87403154	0.86684	D	0.033516	0.55037	D	0.430	0.73662	0.674	0.81200	0.436780212511	0.43300	0.7325139466840079	0.73196	0.244918179632	0.27014	0.3945132792	0.24303	T	0.034155	0.23210	T	0.185268	0.72527	D	0.091994	0.76378	D	0.991795361042023	0.82143	D	0.819218	0.47714	T	0.9362835	0.94869	0.8679035	0.92721	0.9362835	0.94869	0.8679035	0.92722	-10.323	0.75823	D	.	.	0.735	0.78339	P	.;.;.;.;.	.;.;.;.;.	3.521905	0.49371	22.8	0.98915913897072261	0.48454	0.80749	0.40308	D	AEFDBI	0.789434	0.71862	D	0.493889103722969	0.66732	4.98833	0.321786936938468	0.56824	3.84622	0.984359270908701	0.30704	0.615465	0.37627	0	0.547309	0.14657	0	0.658983	0.55881	0	0.530356	0.10902	0	.	.	4.06	4.06	0.46572	3.045000	0.49528	9.792000	0.81650	0.676000	0.76740	0.989000	0.36753	1.000000	0.68203	0.046000	0.14843	0.0:0.0:1.0:0.0	12.031	0.52694	930	0.16408	Cystatin domain|Fetuin-B-type cystatin domain|Cystatin domain|Cystatin domain;Cystatin domain|Fetuin-B-type cystatin domain|Cystatin domain|Cystatin domain;Cystatin domain|Fetuin-B-type cystatin domain|Cystatin domain|Cystatin domain;Cystatin domain|Fetuin-B-type cystatin domain|Cystatin domain|Cystatin domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1779.98	34	chr3	186651237	.	G	T	1779.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.918;DP=857;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.19;ReadPosRankSum=-6.520e-01;SOR=0.721	GT:AD:DP:GQ:PL	0/1:83,76:159:99:1794,0,1963	20	0	1	0
chr3	195725265	195725265	C	T	exonic	MUC20	.	nonsynonymous SNV	MUC20:NM_001282506:exon2:c.C662T:p.P221L	.	.	1227	268	12	15	0	42	0.0726644	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3	T	.	.	.	.	.	.	1.000	N	0	N	3.15	T	-0.948	T	0.016	T	0.091	1.132	9.616	.	0.119	0.856	.	0.012	0.0279939078184	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1178367301	0.0039	0.0022	0.0035	0.0042	0.0229	0.0036	0.0034	0.0194	0.0181	0	0.0229	0.0016	0.0004	0.0035	0	0.0017	0.0016	0.0098	0.0909	0.0077	0	0.1667	0.2500	0.0162	0.0068	.	.	.	.	0.2500	.	0	0.5000	.	0	.	.	0.935	0.05501	T	0.009	0.67890	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	0	0.06538	N	2.97	0.13795	T	-0.71	0.20145	N	0.071	0.04426	-0.9482	0.41279	T	0.016	0.06473	T	5	0.0043722987	0.00089	T	0.027994	0.50737	D	0.012	0.01476	0.268	0.21576	.	.	0.08169079549289465	0.08104	.	.	.	.	.	0.002482	0.09657	T	-0.314255	0.07379	T	-0.689182	0.06436	T	0.0349274069218366	0.02795	T	.	.	.	0.046044763	0.07641	0.13236813	0.31765	0.046044763	0.07640	0.13236813	0.31764	-7.122	0.54919	T	.	.	0.357	0.69288	A	.;.;.	.;.;.	0.983081	0.13607	10.14	0.97336882581047512	0.33452	0.00384	0.01939	N	AEFI	0.051030	0.08975	N	-0.961609506576599	0.09433	0.4464343	-1.14477772820503	0.06862	0.3317746	1.15960121852374E-5	0.02871	0.428477	0.06694	0	0.547309	0.14657	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	.	.	.	1.090000	0.30514	0.659000	0.20486	0.196000	0.17891	0.011000	0.18532	0.001000	0.17328	0.019000	0.11356	.	.	.	851	0.35303	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.2812	1276.28	7	chr3	195725265	.	C	T	1276.28	.	AC=9;AF=0.281;AN=32;BaseQRankSum=2.03;DP=174;ExcessHet=0.2102;FS=9.661;InbreedingCoeff=0.1472;MLEAC=11;MLEAF=0.344;MQ=27.87;MQRankSum=0.329;QD=17.02;ReadPosRankSum=-4.050e-01;SOR=3.729	GT:AD:DP:GQ:PL	0/1:7,9:16:99:200,0,152	9	2	5	5
chr3	195778964	195778964	C	0	exonic	MUC4	.	.	.	.	.	456	799	118	0	149	267	0.0687646	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2692	1929.74	302	chr3	195778964	.	C	*,T	1929.74	.	AC=5,2;AF=0.192,0.077;AN=26;BaseQRankSum=1.84;DP=7379;ExcessHet=2.9153;FS=0.592;InbreedingCoeff=-0.2440;MLEAC=7,3;MLEAF=0.269,0.115;MQ=57.13;MQRankSum=-5.602e+00;QD=0.71;ReadPosRankSum=-4.412e+00;SOR=0.807	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:291,137,9:437:99:0|1:195778964_C_*:3851,0,11972,4218,11527,15852:195778964	6	0	5	8
chr3	195779036	195779036	T	0	exonic	MUC4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3667	73.76	280	chr3	195779036	.	T	*,G	73.76	.	AC=10,3;AF=0.333,0.100;AN=30;BaseQRankSum=-1.320e+00;DP=7021;ExcessHet=0.4264;FS=3.231;InbreedingCoeff=0.0544;MLEAC=13,4;MLEAF=0.433,0.133;MQ=54.24;MQRankSum=-3.656e+00;QD=0.02;ReadPosRankSum=-2.400e+00;SOR=0.912	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:265,133,6:404:99:.:.:3610,0,11250,4286,7775,11528	5	1	6	6
chr3	195779882	195779882	G	0	exonic	MUC4	.	.	.	.	.	827	38	93	396	168	1053	0.920916	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.8462	75722.94	215	chr3	195779882	.	G	C,*	75722.94	.	AC=18,8;AF=0.692,0.308;AN=26;BaseQRankSum=0.967;DP=4540;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=0.5960;MLEAC=26,12;MLEAF=1.00,0.462;MQ=59.69;MQRankSum=-2.320e-01;QD=23.33;ReadPosRankSum=-5.600e-02;SOR=0.742	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,235,0:235:99:.:.:7210,703,0,7210,703,7210	0	7	0	8
chr3	195780499	195780499	G	0	exonic	MUC4	.	.	.	.	.	0	114	53	2	57	114	0.2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4	55203.73	406	chr3	195780499	.	G	A,*	55203.73	.	AC=12,7;AF=0.300,0.175;AN=40;BaseQRankSum=-3.310e-01;DP=8546;ExcessHet=0.5442;FS=0.529;InbreedingCoeff=0.0726;MLEAC=12,7;MLEAF=0.300,0.175;MQ=54.22;MQRankSum=-2.440e-01;QD=9.13;ReadPosRankSum=-4.044e+00;SOR=0.728	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:130,310,0:440:99:.:.:11691,0,4471,6806,5389,11336	6	1	7	1
chr3	195780604	195780604	G	0	exonic	MUC4	.	.	.	.	.	455	714	336	0	17	353	0.190476	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3611	49349.11	404	chr3	195780604	.	G	C,*	49349.11	.	AC=12,1;AF=0.333,0.028;AN=36;BaseQRankSum=1.02;DP=8148;ExcessHet=12.7758;FS=0.000;InbreedingCoeff=-0.5385;MLEAC=13,1;MLEAF=0.361,0.028;MQ=49.37;MQRankSum=2.50;QD=8.15;ReadPosRankSum=-1.380e-01;SOR=0.663	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:275,161,0:436:99:.:.:3984,0,9882,4811,10362,15173	5	0	12	3
chr3	195780620	195780620	C	0	exonic	MUC4	.	.	.	.	.	808	314	377	7	16	407	0.38371	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4167	185617.17	454	chr3	195780620	.	C	T,*	185617.17	.	AC=14,1;AF=0.389,0.028;AN=36;BaseQRankSum=7.26;DP=8709;ExcessHet=23.1855;FS=1.891;InbreedingCoeff=-0.6027;MLEAC=16,1;MLEAF=0.444,0.028;MQ=48.79;MQRankSum=6.09;QD=25.34;ReadPosRankSum=-4.997e+00;SOR=0.543	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:183,334,0:517:99:.:.:12614,0,6615,13165,7591,20757	3	0	14	3
chr3	195780623	195780623	C	0	exonic	MUC4	.	.	.	.	.	801	322	379	4	16	403	0.375364	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4167	180902.17	451	chr3	195780623	.	C	T,*	180902.17	.	AC=14,1;AF=0.389,0.028;AN=36;BaseQRankSum=7.87;DP=8655;ExcessHet=23.1855;FS=2.624;InbreedingCoeff=-0.6027;MLEAC=16,1;MLEAF=0.444,0.028;MQ=48.54;MQRankSum=5.61;QD=25.01;ReadPosRankSum=-4.462e+00;SOR=0.544	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:181,319,0:500:99:.:.:12052,0,6559,12597,7491,20088	3	0	14	3
chr3	195781237	195781237	G	0	exonic	MUC4	.	.	.	.	.	457	758	281	0	26	307	0.156372	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.325	57049.74	510	chr3	195781237	.	G	GAGGAAGGGCTGGTGACAGGAAGAGGGGTGGTGTGACCTGTGGATGCTA,*	57049.74	.	AC=13,1;AF=0.325,0.025;AN=40;BaseQRankSum=-8.550e-01;DP=9994;ExcessHet=6.1794;FS=2.732;InbreedingCoeff=-0.3292;MLEAC=13,1;MLEAF=0.325,0.025;MQ=57.80;MQRankSum=-1.148e+01;QD=9.95;ReadPosRankSum=-6.049e+00;SOR=0.922	GT:AD:DP:GQ:PL	0/1:421,145,0:566:99:4401,0,16363,5675,16796,22471	7	0	12	1
chr3	195781570	195781666	GCTGAGGAAGGGCTGGTGACATGAAGAGGGGTGGCGTGACCTGTGGATGCTGAGGAAGCGTCGGTGACAAGAAGAGGAGTGGCGTGACCTGTGGATA	0	exonic	MUC4	.	.	.	.	.	441	758	314	1	8	324	0.172489	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	16107.51	556	chr3	195781570	.	GCTGAGGAAGGGCTGGTGACATGAAGAGGGGTGGCGTGACCTGTGGATGCTGAGGAAGCGTCGGTGACAAGAAGAGGAGTGGCGTGACCTGTGGATA	G,*	16107.51	.	AC=11,2;AF=0.306,0.056;AN=36;BaseQRankSum=2.83;DP=10262;ExcessHet=5.0857;FS=9.641;InbreedingCoeff=-0.3187;MLEAC=12,2;MLEAF=0.333,0.056;MQ=55.78;MQRankSum=-1.803e+00;QD=2.85;ReadPosRankSum=-4.685e+00;SOR=1.416	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:500,48,0:548:99:0|1:195781570_GCTGAGGAAGGGCTGGTGACATGAAGAGGGGTGGCGTGACCTGTGGATGCTGAGGAAGCGTCGGTGACAAGAAGAGGAGTGGCGTGACCTGTGGATA_G:552,0,20460,2056,20640,22696:195781570	6	0	10	3
chr3	195781578	195781579	AG	0	exonic	MUC4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3438	3970.88	556	chr3	195781578	.	AG	A,*	3970.88	.	AC=1,10;AF=0.031,0.313;AN=32;BaseQRankSum=3.87;DP=10171;ExcessHet=8.9063;FS=8.836;InbreedingCoeff=-0.4349;MLEAC=1,12;MLEAF=0.031,0.375;MQ=55.69;MQRankSum=-5.260e-01;QD=0.73;ReadPosRankSum=-6.913e+00;SOR=1.454	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:500,0,48:548:99:0|1:195781570_GCTGAGGAAGGGCTGGTGACATGAAGAGGGGTGGCGTGACCTGTGGATGCTGAGGAAGCGTCGGTGACAAGAAGAGGAGTGGCGTGACCTGTGGATA_G:552,2056,22696,0,20640,20460:195781570	5	0	1	5
chr3	195781580	195781580	G	0	exonic	MUC4	.	.	.	.	.	463	722	319	1	17	338	0.18187	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3611	4520.74	556	chr3	195781580	.	G	*,C	4520.74	.	AC=12,1;AF=0.333,0.028;AN=36;BaseQRankSum=0.179;DP=9815;ExcessHet=5.0857;FS=8.513;InbreedingCoeff=-0.3187;MLEAC=13,1;MLEAF=0.361,0.028;MQ=56.01;MQRankSum=-2.278e+00;QD=0.86;ReadPosRankSum=-1.693e+00;SOR=1.267	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:206,48,176:430:99:1|0:195781570_GCTGAGGAAGGGCTGGTGACATGAAGAGGGGTGGCGTGACCTGTGGATGCTGAGGAAGCGTCGGTGACAAGAAGAGGAGTGGCGTGACCTGTGGATA_G:5891,4531,13780,0,5619,6949:195781570	6	1	10	3
chr3	195781580	195781580	G	C	exonic	MUC4	.	nonsynonymous SNV	MUC4:NM_018406:exon2:c.C10000G:p.P3334A,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.188	B	0.02	B	.	.	1.000	N	0	N	1.6	T	-1.029	T	0.025	T	0.055	-2.642	0	-0.846	-1.978	-4.124	.	0.002	0.00306801804481	.	.	.	.	.	.	.	.	.	.	.	.	.	rs201933946	2.584e-05	3.087e-05	2.108e-05	3.081e-05	0.0009	1.477e-05	1.088e-05	0.0002	0.0001	0	0	0	0.0009	0	0	1.631e-05	5.502e-05	7.572e-05	0	0.0002	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.39	0.10838	T	0.225	0.25670	T	.	.	.	.	.	.	.	.	.	.	1	0.20745	N	.	.	.	1.6	0.29085	T	-0.92	0.25332	N	0.04	0.03613	-1.0294	0.20649	T	0.025	0.10866	T	7	0.049262732	0.04492	T	0.003068	0.06636	T	0.002	0.00045	0.155	0.05858	0.0138822411134	0.00435	7.891078168164878E-4	0.00072	.	.	0.422586500645	0.28193	T	.	.	.	-0.383899	0.02944	T	-0.789221	0.02186	T	0.0408006180140352	0.03836	T	0.581242	0.21054	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.062	0.01215	B	.;.	.;.	0.478526	0.08482	5.240	0.48788944872141277	0.04100	0.00070	0.00494	N	AEFBI	0.046739	0.07794	N	-1.9141490975778	0.00321	0.01379166	-2.02320338169732	0.00274	0.01206826	9.80237534810795E-4	0.08079	0.554377	0.28877	0	0.547309	0.14657	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	0.423	-0.846	0.10190	-0.579000	0.05927	-4.712000	0.02021	-2.820000	0.00180	0.001000	0.13787	0.000000	0.08366	0.000000	0.00833	.	.	.	601	0.67921	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3611	4520.74	556	chr3	195781580	.	G	*,C	4520.74	.	AC=12,1;AF=0.333,0.028;AN=36;BaseQRankSum=0.179;DP=9815;ExcessHet=5.0857;FS=8.513;InbreedingCoeff=-0.3187;MLEAC=13,1;MLEAF=0.361,0.028;MQ=56.01;MQRankSum=-2.278e+00;QD=0.86;ReadPosRankSum=-1.693e+00;SOR=1.267	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:206,48,176:430:99:1|0:195781570_GCTGAGGAAGGGCTGGTGACATGAAGAGGGGTGGCGTGACCTGTGGATGCTGAGGAAGCGTCGGTGACAAGAAGAGGAGTGGCGTGACCTGTGGATA_G:5891,4531,13780,0,5619,6949:195781570	6	1	10	3
chr3	195781591	195781591	T	0	exonic	MUC4	.	.	.	.	.	449	750	25	2	296	325	0.0189666	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3529	3997.07	404	chr3	195781591	.	T	*,G,A	3997.07	.	AC=10,2,1;AF=0.294,0.059,0.029;AN=34;BaseQRankSum=2.81;DP=8640;ExcessHet=5.0857;FS=10.247;InbreedingCoeff=-0.3523;MLEAC=11,2,1;MLEAF=0.324,0.059,0.029;MQ=55.21;MQRankSum=-4.300e+00;QD=0.78;ReadPosRankSum=-4.302e+00;SOR=1.382	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:427,48,0,0:477:99:0|1:195781591_TGAAGAGGGGTGGCGTGACCTGTGGATGCTGAGGAAGCGTCGGTGACAA_*:703,0,18448,2045,17578,19266,2045,17578,19266,19266:195781591	5	0	9	4
chr3	195781618	195781666	GCTGAGGAAGCGTCGGTGACAAGAAGAGGAGTGGCGTGACCTGTGGATA	0	exonic	MUC4	.	.	.	.	.	469	535	446	20	52	538	0.312339	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3824	64803.77	402	chr3	195781618	.	GCTGAGGAAGCGTCGGTGACAAGAAGAGGAGTGGCGTGACCTGTGGATA	*,G	64803.77	.	AC=5,12;AF=0.147,0.353;AN=34;BaseQRankSum=0.785;DP=8138;ExcessHet=1.0760;FS=0.000;InbreedingCoeff=-0.0359;MLEAC=6,14;MLEAF=0.176,0.412;MQ=54.52;MQRankSum=-7.229e+00;QD=12.85;ReadPosRankSum=0.031;SOR=0.668	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:250,50,134:434:99:.:.:5056,1931,11542,0,7705,9411	4	0	1	4
chr3	195781620	195781620	T	0	exonic	MUC4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4412	317.18	402	chr3	195781620	.	T	*,C	317.18	.	AC=15,3;AF=0.441,0.088;AN=34;BaseQRankSum=0.368;DP=7754;ExcessHet=0.4630;FS=2.515;InbreedingCoeff=0.0667;MLEAC=17,3;MLEAF=0.500,0.088;MQ=54.29;MQRankSum=-9.995e+00;QD=0.07;ReadPosRankSum=-1.613e+00;SOR=0.884	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:250,134,0:434:99:.:.:5056,0,9411,5140,9891,14893	4	2	8	4
chr3	195781628	195781628	C	0	exonic	MUC4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.725	58454.87	402	chr3	195781628	.	C	T,*	58454.87	.	AC=10,20;AF=0.250,0.500;AN=40;BaseQRankSum=2.39;DP=7718;ExcessHet=6.5132;FS=0.581;InbreedingCoeff=-0.3333;MLEAC=10,21;MLEAF=0.250,0.525;MQ=55.94;MQRankSum=-1.348e+00;QD=8.67;ReadPosRankSum=0.131;SOR=0.761	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:250,0,134:434:99:.:.:5056,5140,14893,0,9891,9411	0	3	3	1
chr3	195781639	195781639	A	0	exonic	MUC4	.	.	.	.	.	521	546	50	5	400	460	0.0520833	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3889	8196.5	402	chr3	195781639	.	A	T,*	8196.5	.	AC=1,6;AF=0.056,0.333;AN=18;BaseQRankSum=-1.301e+00;DP=5813;ExcessHet=1.1475;FS=1.742;InbreedingCoeff=0.0793;MLEAC=2,11;MLEAF=0.111,0.611;MQ=56.14;MQRankSum=-9.244e+00;QD=3.89;ReadPosRankSum=-1.029e+00;SOR=0.768	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:250,0,134:434:99:.:.:5056,5140,14893,0,9891,9411	3	0	1	12
chr3	195781645	195781645	G	T	exonic	MUC4	.	nonsynonymous SNV	MUC4:NM_018406:exon2:c.C9935A:p.P3312H,	.	.	536	587	364	31	4	430	0.26625	.	.	2840494	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	.	.	0.969	D	0.707	P	.	.	1.000	N	0.55	N	1.5	T	-1.044	T	0.056	T	0.065	0.255	5.379	-1.49	0.088	-1.535	3.617	0.028	.	.	0.00299521	0.0087	0	0.0068	0	0	0.0099	0	0.0117	0.0005886	91	154602	rs62282476	0.0087	0.0069	0.0083	0.0092	0.0137	0.0085	0.0084	0.0125	0.0120	0.0016	0.0008	0.0433	0	0	0.0088	0.0087	0.0111	0.0137	0.0022	0.0024	0.0023	0.0022	0.0088	0.0019	0.0018	0.0058	0.0049	0.0004	0.0185	0.0008	0.0177	0	0	0	0.0030	0.0019	0.0088	0.001	0.78490	D	0.065	0.44905	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.5	0.31205	T	-0.55	0.21644	N	0.075	0.04913	-1.0436	0.16236	T	0.056	0.23488	T	8	0.0050420463	0.00109	T	.	.	.	0.028	0.06331	.	.	0.0401082797425	0.02173	0.006791750257993445	0.00646	.	.	0.461181938648	0.33473	T	.	.	.	-0.319438	0.06943	T	-0.696627	0.06012	T	0.0200654981272231	0.00707	T	0.79532	0.43818	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.155	0.34361	B	.;.	.;.	1.995519	0.25356	16.73	0.87079188851090572	0.16974	0.00182	0.01064	N	AEFBI	0.056229	0.10378	N	-0.819753390612407	0.12806	0.6266146	-1.08128031475341	0.08069	0.3951516	1.5455898311315E-5	0.02871	0.554377	0.28877	0	0.547309	0.14657	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	0.743	-1.49	0.08259	-0.147000	0.10218	0.176000	0.15576	0.178000	0.17791	0.000000	0.06391	0.000000	0.08366	0.006000	0.07323	0.0:0.4971:0.5029:0.0	3.617	0.07624	601	0.67921	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.375	9999.09	402	chr3	195781645	.	G	T,*	9999.09	.	AC=1,5;AF=0.063,0.313;AN=16;BaseQRankSum=-3.990e-01;DP=5790;ExcessHet=0.4981;FS=0.000;InbreedingCoeff=0.1231;MLEAC=2,10;MLEAF=0.125,0.625;MQ=56.29;MQRankSum=12.92;QD=5.33;ReadPosRankSum=1.70;SOR=0.678	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:250,0,134:434:99:.:.:5056,5140,14893,0,9891,9411	3	0	1	13
chr3	195781645	195781645	G	0	exonic	MUC4	.	.	.	.	.	536	587	364	31	4	430	0.26625	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.375	9999.09	402	chr3	195781645	.	G	T,*	9999.09	.	AC=1,5;AF=0.063,0.313;AN=16;BaseQRankSum=-3.990e-01;DP=5790;ExcessHet=0.4981;FS=0.000;InbreedingCoeff=0.1231;MLEAC=2,10;MLEAF=0.125,0.625;MQ=56.29;MQRankSum=12.92;QD=5.33;ReadPosRankSum=1.70;SOR=0.678	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:250,0,134:434:99:.:.:5056,5140,14893,0,9891,9411	3	0	1	13
chr3	195781647	195781647	A	0	exonic	MUC4	.	.	.	.	.	611	468	62	7	374	450	0.0750988	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3889	8091.5	402	chr3	195781647	.	A	G,*	8091.5	.	AC=1,6;AF=0.056,0.333;AN=18;BaseQRankSum=-9.110e-01;DP=5805;ExcessHet=1.1475;FS=1.742;InbreedingCoeff=0.0793;MLEAC=2,11;MLEAF=0.111,0.611;MQ=55.79;MQRankSum=-9.225e+00;QD=3.82;ReadPosRankSum=-1.318e+00;SOR=0.758	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:250,0,134:434:99:.:.:5056,5140,14893,0,9891,9411	3	0	1	12
chr3	195781666	195781666	A	0	exonic	MUC4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.35	6369.68	402	chr3	195781666	.	A	*,G	6369.68	.	AC=6,1;AF=0.300,0.050;AN=20;BaseQRankSum=1.86;DP=5542;ExcessHet=1.1475;FS=3.216;InbreedingCoeff=0.1231;MLEAC=10,2;MLEAF=0.500,0.100;MQ=54.75;MQRankSum=-7.719e+00;QD=3.17;ReadPosRankSum=-7.700e-01;SOR=0.830	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:172,176,2:350:99:0|1:195781591_TGAAGAGGGGTGGCGTGACCTGTGGATGCTGAGGAAGCGTCGGTGACAA_*:7001,0,6248,5854,6724,12383:195781591	4	1	4	11
chr3	195782558	195782558	A	0	exonic	MUC4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3667	57440.95	642	chr3	195782558	.	A	G,*	57440.95	.	AC=9,4;AF=0.300,0.133;AN=30;BaseQRankSum=-2.341e+00;DP=9169;ExcessHet=0.9330;FS=0.571;InbreedingCoeff=0.1246;MLEAC=12,5;MLEAF=0.400,0.167;MQ=56.40;MQRankSum=-5.591e+00;QD=11.79;ReadPosRankSum=1.28;SOR=0.729	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:188,168,99:455:99:1|0:195782548_ACAGGAAGAGAGGTGGCGTGACCTATGGATGCTGAGGAAGTGTCGGTGACAGGAAGAAGGGTGGCGTGACCTGTGGATGCTGAGGAAGTGTCGGTGT_A:6746,0,4057,816,1313,9880:195782548	5	1	5	6
chr3	195782572	195782572	A	0	exonic	MUC4	.	.	.	.	.	613	867	19	6	17	48	0.0175637	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2727	4722.96	605	chr3	195782572	.	A	*,G	4722.96	.	AC=4,2;AF=0.182,0.091;AN=22;BaseQRankSum=5.52;DP=8908;ExcessHet=2.2993;FS=0.000;InbreedingCoeff=-0.2408;MLEAC=6,3;MLEAF=0.273,0.136;MQ=55.81;MQRankSum=-1.087e+01;QD=1.68;ReadPosRankSum=-9.100e-01;SOR=0.658	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:368,99,6:473:99:.:.:3927,0,14898,3521,14083,17627	5	0	4	10
chr3	195782605	195782605	A	0	exonic	MUC4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2727	11928.07	612	chr3	195782605	.	A	*,AGGGTGGCGTGACCTGTGGATGCTGAGGAAGTGTCGGTGACAGGAAGAG	11928.07	.	AC=4,3;AF=0.182,0.136;AN=22;BaseQRankSum=-3.569e+00;DP=8646;ExcessHet=0.4362;FS=1.176;InbreedingCoeff=-0.0256;MLEAC=6,5;MLEAF=0.273,0.227;MQ=55.03;MQRankSum=-9.332e+00;QD=5.50;ReadPosRankSum=-3.846e+00;SOR=0.586	GT:AD:DP:GQ:PL	0/1:128,99,42:275:99:2809,0,14444,526,1390,4253	5	0	3	10
chr3	195783084	195783084	A	0	exonic	MUC4	.	.	.	.	.	29	112	61	14	10	99	0.284345	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3947	76734.88	472	chr3	195783084	.	A	C,*	76734.88	.	AC=14,3;AF=0.368,0.079;AN=38;BaseQRankSum=-3.116e+00;DP=9201;ExcessHet=0.8299;FS=0.000;InbreedingCoeff=0.0328;MLEAC=15,3;MLEAF=0.395,0.079;MQ=57.96;MQRankSum=-8.050e-01;QD=13.77;ReadPosRankSum=-5.900e-01;SOR=0.689	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:189,178,0:367:99:0|1:195783084_A_C:6411,0,7086,6841,7472,14344:195783084	6	2	8	2
chr3	195783093	195783093	A	0	exonic	MUC4	.	.	.	.	.	83	60	55	21	7	104	0.447005	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4688	99636.6	482	chr3	195783093	.	A	G,*	99636.6	.	AC=15,2;AF=0.469,0.063;AN=32;BaseQRankSum=-2.015e+00;DP=8944;ExcessHet=1.9072;FS=0.000;InbreedingCoeff=-0.0323;MLEAC=18,2;MLEAF=0.563,0.063;MQ=58.06;MQRankSum=-9.630e-01;QD=17.76;ReadPosRankSum=0.012;SOR=0.691	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:192,182,0:374:99:0|1:195783084_A_C:6518,0,7150,6999,7660,14880:195783084	3	2	9	5
chr3	195783415	195783415	G	T	exonic	MUC4	.	nonsynonymous SNV	MUC4:NM_018406:exon2:c.C8165A:p.P2722H,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.000	N	0.345	N	1.48	T	-1.002	T	0.032	T	0.054	-0.998	0.263	-1.38	0.489	-0.253	1.629	0.014	0.000511194972926	.	.	0.0003	0	0	0.0029	0	0.0004	0	0	.	.	.	rs757915947	0.0003	0.0003	0.0003	0.0003	0.0033	0.0003	0.0003	0.0027	0.0025	0	0	0.0010	0.0033	0.0008	0.0006	7.44e-05	0.0006	0.0002	3.194e-05	0.0004	0	6.51e-05	0.0006	0	0	.	.	0	0	0	0	0.0006	0	0	0	0	0	0.189	0.23997	T	0.005	0.72224	D	.	.	.	.	.	.	.	.	.	.	1	0.20292	N	.	.	.	1.48	0.31987	T	-0.42	0.20358	N	0.096	0.07673	-1.0016	0.29459	T	0.032	0.13898	T	6	0.010089844	0.00226	T	5.11E-4	0.00163	T	0.014	0.01968	0.19	0.10039	0.0297737177859	0.01360	8.704670884257128E-5	0.00007	.	.	0.542042016983	0.44734	T	.	.	.	-0.341949	0.05253	T	-0.728962	0.04374	T	0.0409642838981407	0.03865	T	0.587141	0.21465	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.151	0.33319	B	.;.	.;.	1.363002	0.17722	13.33	0.3891870080358984	0.02654	0.00088	0.00587	N	AEFBI	0.034961	0.04420	N	-0.933277390823719	0.10070	0.4795295	-1.12522507782047	0.07221	0.3504127	1.81192519909741E-5	0.02871	0.428477	0.06694	0	0.547309	0.14657	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	1.02	-1.38	0.08554	-3.524000	0.00493	-1.108000	0.06307	0.061000	0.17545	0.000000	0.06391	0.001000	0.17328	0.013000	0.09966	0.2797:0.0:0.3924:0.3279	1.629	0.02564	601	0.67921	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.06667	577.51	37	chr3	195783415	.	G	T	577.51	.	AC=2;AF=0.067;AN=30;BaseQRankSum=2.55;DP=1250;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=0.7044;MLEAC=3;MLEAF=0.100;MQ=44.25;MQRankSum=0.829;QD=23.10;ReadPosRankSum=0.150;SOR=0.749	GT:AD:DP:GQ:PL	1/1:2,23:25:56:600,56,0	14	1	0	6
chr3	195783861	195783861	G	0	exonic	MUC4	.	.	.	.	.	560	460	486	7	9	509	0.352113	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4333	81944.7	385	chr3	195783861	.	G	A,*	81944.7	.	AC=12,1;AF=0.400,0.033;AN=30;BaseQRankSum=1.06;DP=8683;ExcessHet=15.1749;FS=1.128;InbreedingCoeff=-0.5646;MLEAC=15,1;MLEAF=0.500,0.033;MQ=54.05;MQRankSum=-8.970e-01;QD=13.98;ReadPosRankSum=0.513;SOR=0.821	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:298,143,4:445:99:0|1:195783861_G_*:4997,0,11729,6015,12291,21143:195783861	2	0	12	6
chr3	195783874	195783874	G	0	exonic	MUC4	.	.	.	.	.	665	374	471	9	3	492	0.395311	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3824	83273.27	394	chr3	195783874	.	G	A,*	83273.27	.	AC=12,1;AF=0.353,0.029;AN=34;BaseQRankSum=-2.313e+00;DP=8997;ExcessHet=13.8672;FS=1.132;InbreedingCoeff=-0.5289;MLEAC=14,1;MLEAF=0.412,0.029;MQ=54.92;MQRankSum=-5.830e-01;QD=13.63;ReadPosRankSum=3.00;SOR=0.792	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:321,135,4:460:99:0|1:195783861_G_*:4638,0,12825,5794,13444,23102:195783861	4	0	12	4
chr3	195783878	195783878	C	0	exonic	MUC4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5278	158236.0	363	chr3	195783878	.	C	A,CGGAAGTGTCGGTGACATGAAGAGGGGTGGCATGACCTGTGGATACTGA,*,CGGAAGTGTTGGTGACATGAAGAGGGGTGGCATGACCTGTGGATACTGA	158236.0	.	AC=12,7,1,1;AF=0.333,0.194,0.028,0.028;AN=36;BaseQRankSum=1.84;DP=9624;ExcessHet=8.7202;FS=1.793;InbreedingCoeff=-0.4053;MLEAC=13,7,1,1;MLEAF=0.361,0.194,0.028,0.028;MQ=55.02;MQRankSum=-2.778e+00;QD=22.89;ReadPosRankSum=-4.840e-01;SOR=0.836	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:161,135,141,4,0:441:15:.:.:8930,0,7939,15,1002,6065,9534,8584,6826,18602,9603,8663,6925,18296,18333	1	1	9	3
chr3	195783889	195783889	G	0	exonic	MUC4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	6244.38	434	chr3	195783889	.	G	*,GT	6244.38	.	AC=1,1;AF=0.025,0.025;AN=40;BaseQRankSum=-9.770e-01;DP=9025;ExcessHet=0.1128;FS=0.000;InbreedingCoeff=-0.0526;MLEAC=1,1;MLEAF=0.025,0.025;MQ=55.94;MQRankSum=3.33;QD=8.45;ReadPosRankSum=2.72;SOR=0.732	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:362,4,175:541:99:0|1:195783889_G_*:6258,7286,23021,0,15072,14591:195783889	18	0	1	1
chr3	195783889	195783889	-	T	exonic	MUC4	.	frameshift insertion	MUC4:NM_018406:exon2:c.7690dupA:p.T2564Nfs*26	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0.0005	0	0	0.0017	0.0001	0	0	3.88e-05	6	154602	rs775414158	0.0001	0.0002	0.0001	0.0001	0.0016	0.0001	0.0001	0.0012	0.0011	0	2.937e-05	0	0.0016	0.0010	0.0005	6.342e-05	0.0002	0.0002	0.0001	0.0001	6.709e-05	0.0002	8.849e-05	6.771e-05	5.533e-05	3.772e-05	2.582e-05	0	0	0	0	0	0.0009	0	8.849e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	6244.38	434	chr3	195783889	.	G	*,GT	6244.38	.	AC=1,1;AF=0.025,0.025;AN=40;BaseQRankSum=-9.770e-01;DP=9025;ExcessHet=0.1128;FS=0.000;InbreedingCoeff=-0.0526;MLEAC=1,1;MLEAF=0.025,0.025;MQ=55.94;MQRankSum=3.33;QD=8.45;ReadPosRankSum=2.72;SOR=0.732	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:362,4,175:541:99:0|1:195783889_G_*:6258,7286,23021,0,15072,14591:195783889	18	0	1	1
chr3	195783891	195783891	G	0	exonic	MUC4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3947	105790.68	446	chr3	195783891	.	G	A,*	105790.68	.	AC=14,1;AF=0.368,0.026;AN=38;BaseQRankSum=-3.408e+00;DP=9538;ExcessHet=18.9861;FS=1.113;InbreedingCoeff=-0.6327;MLEAC=15,1;MLEAF=0.395,0.026;MQ=55.85;MQRankSum=1.36;QD=13.99;ReadPosRankSum=1.52;SOR=0.607	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:354,177,4:535:99:0|1:195783889_G_*:6367,0,14249,7346,14712,22409:195783889	4	0	14	2
chr3	195783902	195783902	A	0	exonic	MUC4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4444	124896.55	459	chr3	195783902	.	A	G,*	124896.55	.	AC=15,1;AF=0.417,0.028;AN=36;BaseQRankSum=-2.830e-01;DP=9618;ExcessHet=25.4433;FS=0.524;InbreedingCoeff=-0.7101;MLEAC=17,1;MLEAF=0.472,0.028;MQ=56.37;MQRankSum=0.323;QD=15.45;ReadPosRankSum=-3.430e-01;SOR=0.640	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:356,186,4:546:99:0|1:195783889_G_*:6719,0,14358,7693,14822,22646:195783889	2	0	15	3
chr3	195784652	195784652	C	0	exonic	MUC4	.	.	.	.	.	842	358	133	132	57	454	0.356694	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5294	123606.13	363	chr3	195784652	.	C	G,*	123606.13	.	AC=16,4;AF=0.471,0.118;AN=34;BaseQRankSum=1.37;DP=11220;ExcessHet=2.7716;FS=0.566;InbreedingCoeff=-0.1110;MLEAC=19,5;MLEAF=0.559,0.147;MQ=55.09;MQRankSum=-1.168e+01;QD=15.32;ReadPosRankSum=-3.180e-01;SOR=0.643	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:216,174,0:390:99:0|1:195784652_C_G:6534,0,8530,7184,9053,16237:195784652	2	3	8	4
chr3	195784654	195784654	T	0	exonic	MUC4	.	.	.	.	.	811	382	134	136	59	465	0.347009	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	117318.88	370	chr3	195784654	.	T	C,*	117318.88	.	AC=16,3;AF=0.471,0.088;AN=34;BaseQRankSum=1.41;DP=11323;ExcessHet=1.4183;FS=0.000;InbreedingCoeff=-0.0051;MLEAC=19,4;MLEAF=0.559,0.118;MQ=54.70;MQRankSum=-1.241e+01;QD=16.09;ReadPosRankSum=-3.410e-01;SOR=0.662	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:217,181,0:398:99:0|1:195784652_C_G:6724,0,8516,7376,9060,16437:195784652	3	3	8	4
chr3	195784655	195784655	C	0	exonic	MUC4	.	.	.	.	.	812	379	133	136	62	467	0.348237	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4706	108863.73	369	chr3	195784655	.	C	*,T	108863.73	.	AC=4,15;AF=0.118,0.441;AN=34;BaseQRankSum=2.58;DP=11307;ExcessHet=1.4183;FS=0.000;InbreedingCoeff=-0.0051;MLEAC=5,17;MLEAF=0.147,0.500;MQ=54.71;MQRankSum=-1.230e+01;QD=14.80;ReadPosRankSum=-4.320e-01;SOR=0.673	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:218,0,182:400:99:0|1:195784652_C_G:6711,7366,16410,0,9043,8496:195784652	3	0	1	4
chr3	195784719	195784719	A	0	exonic	MUC4	.	.	.	.	.	956	119	187	211	49	658	0.719008	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6333	181902.03	501	chr3	195784719	.	A	G,*	181902.03	.	AC=18,3;AF=0.600,0.100;AN=30;BaseQRankSum=-5.120e-01;DP=14927;ExcessHet=7.4688;FS=0.000;InbreedingCoeff=-0.1407;MLEAC=23,4;MLEAF=0.767,0.133;MQ=57.00;MQRankSum=-5.969e+00;QD=19.43;ReadPosRankSum=-2.732e+00;SOR=0.674	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:214,287,0:501:99:0|1:195784652_C_G:8698,0,6614,9338,7474,16812:195784652	0	4	8	6
chr3	195785315	195785315	-	GAGGAAGCGTCGGTGACAGGAAGAGGCGTGGCGTGACCTGTGGACAC	exonic	MUC4	.	frameshift insertion	MUC4:NM_018406:exon2:c.6264_6265insGTGTCCACAGGTCACGCCACGCCTCTTCCTGTCACCGACGCTTCCTC:p.I2089Vfs*931	.	.	542	16	26	927	11	1891	0.983264	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.337e-05	0	0	0	0.0005	7.837e-05	0	0	1.29e-05	2	154602	rs751858617	0.0001	0.0010	0.0001	0.0002	0.0009	0.0001	0.0001	0.0006	0.0006	0.0009	8.604e-05	0	2.823e-05	0.0005	0.0002	9.85e-05	0.0002	7.712e-05	0.0004	0.0010	0.0004	0.0004	0.0009	0.0003	0.0003	0.0007	0.0006	0.0009	0	7.172e-05	0	0	0.0001	0	0.0003	0.0005	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.9524	501656.58	740	chr3	195785315	.	T	C,TGAGGAAGCGTCGGTGACAGGAAGAGGCGTGGCGTGACCTGTGGACAC	501656.58	.	AC=40,2;AF=0.952,0.048;AN=42;BaseQRankSum=1.87;DP=15694;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=NaN;MLEAC=40,2;MLEAF=0.952,0.048;MQ=57.82;MQRankSum=-3.320e-01;QD=34.25;ReadPosRankSum=-4.420e-01;SOR=0.107	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,878,0:878:99:.:.:30314,2643,0,30314,2643,30314	0	19	0	0
chr3	195785374	195785374	T	0	exonic	MUC4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.8571	431121.8	754	chr3	195785374	.	T	C,*	431121.8	.	AC=36,1;AF=0.857,0.024;AN=42;BaseQRankSum=1.92;DP=14531;ExcessHet=1.1607;FS=1.262;InbreedingCoeff=-0.1351;MLEAC=36,1;MLEAF=0.857,0.024;MQ=56.84;MQRankSum=-6.000e-01;QD=31.27;ReadPosRankSum=1.39;SOR=0.348	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:2,884,0:886:99:.:.:30190,2640,0,30195,2653,30208	0	15	5	0
chr3	195787238	195787238	C	0	exonic	MUC4	.	.	.	.	.	932	298	197	67	28	359	0.357066	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4474	3246.35	24	chr3	195787238	.	C	A,*	3246.35	.	AC=16,3;AF=0.421,0.079;AN=38;BaseQRankSum=1.49;DP=300;ExcessHet=2.6629;FS=47.055;InbreedingCoeff=-0.1962;MLEAC=18,3;MLEAF=0.474,0.079;MQ=37.84;MQRankSum=1.47;QD=13.47;ReadPosRankSum=-3.110e-01;SOR=1.282	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:12,6,0:18:99:0|1:195787233_T_A:216,0,466,252,484,736:195787233	4	2	10	2
chr3	195787273	195787273	T	0	exonic	MUC4	.	.	.	.	.	903	371	151	74	23	322	0.287224	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4	2873.59	19	chr3	195787273	.	T	*,C	2873.59	.	AC=4,15;AF=0.100,0.375;AN=40;BaseQRankSum=-3.190e-01;DP=324;ExcessHet=0.7352;FS=61.659;InbreedingCoeff=-0.0399;MLEAC=5,17;MLEAF=0.125,0.425;MQ=37.78;MQRankSum=1.27;QD=11.54;ReadPosRankSum=-6.730e-01;SOR=0.049	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:12,0,8:20:99:0|1:195787233_T_A:280,316,785,0,469,445:195787233	6	0	1	1
chr3	195787897	195787897	T	0	exonic	MUC4	.	.	.	.	.	830	484	108	98	2	306	0.238994	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	4090.56	24	chr3	195787897	.	T	*,C	4090.56	.	AC=2,16;AF=0.059,0.471;AN=34;BaseQRankSum=-3.270e-01;DP=455;ExcessHet=0.3330;FS=31.908;InbreedingCoeff=0.0493;MLEAC=2,18;MLEAF=0.059,0.529;MQ=36.91;MQRankSum=-3.460e-01;QD=16.17;ReadPosRankSum=0.153;SOR=4.157	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:13,0,6:19:99:.:.:131,169,551,0,382,365	4	0	1	4
chr4	653934	653934	G	A	exonic	PDE6B	.	nonsynonymous SNV	PDE6B:NM_000283:exon4:c.G794A:p.R265Q	Night blindness, congenital stationary, autosomal dominant 2, Autosomal dominant;Retinitis pigmentosa-40, Autosomal recessive	.	0	1514	8	0	0	8	0.00263505	.	.	194288	not_provided|Retinitis_pigmentosa|Congenital_stationary_night_blindness_autosomal_dominant_2	MedGen:C3661900|Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:791|MONDO:MONDO:0008099,MedGen:C1876182,OMIM:163500,Orphanet:215	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.4	T	1.0	D	0.999	D	0.000	D	1.000	D	1.78	L	-0.47	T	-0.291	T	0.466	T	0.898	4.982	29.2	5.26	2.449	9.447	16.361	0.577	0.0871653649265	0.0009	0.000599042	0.0012	0.0002	0.0007	0	0	0.0014	0.0011	0.0024	0.0011449	177	154602	rs144562730	0.0011	0.0011	0.0010	0.0012	0.0029	0.0010	0.0010	0.0022	0.0020	2.987e-05	0.0006	0.0003	0	1.882e-05	0.0029	0.0011	0.0011	0.0024	0.0008	0.0008	0.0008	0.0009	0.0014	0.0007	0.0007	0.0012	0.0011	0.0002	0	0.0005	0.0012	0	0	0.0034	0.0014	0	0.0012	0.158	0.23905	T	0.314	0.19539	T	1.0	0.90584	D	0.998	0.92359	D	0.000000	0.84330	D	0.000000	0.999999	0.81001	D	1.76	0.45711	L	-0.47	0.70133	T	-2.12	0.48184	N	0.898	0.90363	-0.2915	0.75223	T	0.466	0.79394	T	10	0.16307157	0.30545	T	0.087165	0.74882	D	0.577	0.82912	.	.	0.907322125651	0.90639	0.6271360079418107	0.62646	0.638029974731	0.57550	0.719041347504	0.69907	T	0.682089	0.90675	D	0.00553052	0.52414	T	0.22931	0.84636	D	0.0421555607017681	0.04083	T	0.971203	0.89615	D	0.25590616	0.48628	0.1802327	0.40809	0.22691232	0.45381	0.18985724	0.42355	-10.332	0.75875	D	0.3592111516918084	0.45579	0.331	0.60415	B	.;.	.;.	5.511426	0.91687	32	0.99944450236363702	0.99868	0.99109	0.91358	D	AEFDBI	0.932479	0.92291	D	0.727626993757273	0.81445	7.523435	0.729338854430165	0.84606	8.339105	0.999999999928149	0.74766	0.718356	0.82227	0	0.588066	0.40923	0	0.570548	0.19454	0	0.562822	0.20929	0	.	.	5.26	5.26	0.73479	9.578000	0.97357	.	.	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.915000	0.45038	0.0:0.0:1.0:0.0	16.361	0.83100	799	0.44747	.;GAF domain|GAF domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0.04762	2973.11	33	chr4	653934	.	G	A	2973.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.56;DP=936;ExcessHet=0.1072;FS=0.954;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=11.71;ReadPosRankSum=-4.710e-01;SOR=0.762	GT:AD:DP:GQ:PL	0/1:86,82:168:99:2111,0,2097	19	0	2	0
chr4	1025268	1025268	-	CACA	exonic	FGFRL1	.	frameshift insertion	FGFRL1:NM_021923:exon6:c.1436_1437insCACA:p.S486Tfs*67	.	.	414	774	328	1	5	335	0.175719	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2143	734.34	34	chr4	1025266	.	CCA	C,CCACACA	734.34	.	AC=8,1;AF=0.190,0.024;AN=42;BaseQRankSum=-9.200e-02;DP=1325;ExcessHet=4.7172;FS=1.630;InbreedingCoeff=-0.2727;MLEAC=8,1;MLEAF=0.190,0.024;MQ=60.00;MQRankSum=0.00;QD=1.06;ReadPosRankSum=0.069;SOR=0.760	GT:AD:DP:GQ:PL	0/1:86,11,0:99:79:79,0,2789,364,2799,3188	12	0	8	0
chr4	2662992	2662992	G	C	splicing	FAM193A	NM_001366316:exon11:c.1728+1G>C;NM_001366318:exon11:c.1899+1G>C;NM_001256666:exon9:c.1026+1G>C;NM_001256667:exon10:c.1092+1G>C;NM_003704:exon9:c.1026+1G>C;NM_001256668:exon9:c.1026+1G>C	.	.	.	.	.	.	.	.	.	.	.	1.0000	0.938	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.000	D	.	.	.	.	.	.	.	.	.	3.076	16.27	5.94	2.820	8.776	19.362	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.192e-06	0.0001	4.102e-06	8.307e-06	8.147e-06	2.91e-06	2.11e-06	3.83e-06	2.78e-06	0	0	0	0	0	0	8.147e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.278694	0.81204	D	0.162548	0.80963	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.;.;.;.;.	.;.;.;.;.;.;.	5.228451	0.87761	29.4	0.99446033122521582	0.65021	0.97690	0.76437	D	AEFBCI	.	.	.	1.17962989754767	0.99342	22.03292	1.0229923532359	0.99025	20.32474	0.999999999999954	0.74766	0.295142	0.05270	0	0.30413	0.05452	0	0.128073	0.03558	0	0.087121	0.02386	0	0.975606	0.78585	5.94	5.94	0.96165	8.898000	0.92168	11.640000	0.93781	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.585000	0.31016	0.0:0.0:1.0:0.0	19.362	0.94432	624	0.65661	.;.;.;.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1765	531.26	142	chr4	2662992	.	G	C	531.26	.	AC=6;AF=0.176;AN=34;BaseQRankSum=-3.826e+00;DP=2064;ExcessHet=1.7912;FS=200.882;InbreedingCoeff=-0.2447;MLEAC=7;MLEAF=0.206;MQ=60.00;MQRankSum=0.00;QD=0.77;ReadPosRankSum=0.827;SOR=11.598	GT:AD:DP:GQ:PL	0/1:102,39:141:99:153,0,1779	11	0	6	4
chr4	3074882	3074882	-	CAGCAGCAG	exonic	HTT	.	nonframeshift insertion	HTT:NM_002111:exon1:c.57_58insCAGCAGCAG:p.Q38_P39insQQQ,	Huntington disease, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5476	20237.75	33	chr4	3074876	.	CCAGCAG	CCAGCAGCAGCAGCAG,C,CCAG,CCAGCAGCAG,CCAGCAGCAGCAGCAGCAG,CCAGCAGCAGCAGCAGCAGCAG	20237.75	.	AC=3,15,5,3,3,1;AF=0.071,0.357,0.119,0.071,0.071,0.024;AN=42;BaseQRankSum=0.322;DP=1615;ExcessHet=0.0944;FS=0.880;InbreedingCoeff=0.3000;MLEAC=3,15,5,3,3,1;MLEAF=0.071,0.357,0.119,0.071,0.071,0.024;MQ=59.93;MQRankSum=0.00;QD=34.24;ReadPosRankSum=-3.370e-01;SOR=0.541	GT:AD:DP:GQ:PGT:PID:PL:PS	2/2:0,0,26,0,0,0,0:28:81:.:.:1157,1109,1078,84,81,0,1109,1078,81,1078,1109,1078,81,1078,1078,1109,1078,81,1078,1078,1078,1109,1078,81,1078,1078,1078,1078	3	1	1	0
chr4	3074880	3074882	CAG	-	exonic	HTT	.	nonframeshift deletion	HTT:NM_002111:exon1:c.55_57del:p.Q38del,	Huntington disease, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5476	20237.75	33	chr4	3074876	.	CCAGCAG	CCAGCAGCAGCAGCAG,C,CCAG,CCAGCAGCAG,CCAGCAGCAGCAGCAGCAG,CCAGCAGCAGCAGCAGCAGCAG	20237.75	.	AC=3,15,5,3,3,1;AF=0.071,0.357,0.119,0.071,0.071,0.024;AN=42;BaseQRankSum=0.322;DP=1615;ExcessHet=0.0944;FS=0.880;InbreedingCoeff=0.3000;MLEAC=3,15,5,3,3,1;MLEAF=0.071,0.357,0.119,0.071,0.071,0.024;MQ=59.93;MQRankSum=0.00;QD=34.24;ReadPosRankSum=-3.370e-01;SOR=0.541	GT:AD:DP:GQ:PGT:PID:PL:PS	2/2:0,0,26,0,0,0,0:28:81:.:.:1157,1109,1078,84,81,0,1109,1078,81,1078,1109,1078,81,1078,1078,1109,1078,81,1078,1078,1078,1109,1078,81,1078,1078,1078,1078	3	1	1	0
chr4	3074882	3074882	-	CAG	exonic	HTT	.	nonframeshift insertion	HTT:NM_002111:exon1:c.57_58insCAG:p.Q38_P39insQ,	Huntington disease, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5476	20237.75	33	chr4	3074876	.	CCAGCAG	CCAGCAGCAGCAGCAG,C,CCAG,CCAGCAGCAG,CCAGCAGCAGCAGCAGCAG,CCAGCAGCAGCAGCAGCAGCAG	20237.75	.	AC=3,15,5,3,3,1;AF=0.071,0.357,0.119,0.071,0.071,0.024;AN=42;BaseQRankSum=0.322;DP=1615;ExcessHet=0.0944;FS=0.880;InbreedingCoeff=0.3000;MLEAC=3,15,5,3,3,1;MLEAF=0.071,0.357,0.119,0.071,0.071,0.024;MQ=59.93;MQRankSum=0.00;QD=34.24;ReadPosRankSum=-3.370e-01;SOR=0.541	GT:AD:DP:GQ:PGT:PID:PL:PS	2/2:0,0,26,0,0,0,0:28:81:.:.:1157,1109,1078,84,81,0,1109,1078,81,1078,1109,1078,81,1078,1078,1109,1078,81,1078,1078,1078,1109,1078,81,1078,1078,1078,1078	3	1	1	0
chr4	3074882	3074882	-	CAGCAGCAGCAG	exonic	HTT	.	nonframeshift insertion	HTT:NM_002111:exon1:c.57_58insCAGCAGCAGCAG:p.Q38_P39insQQQQ,	Huntington disease, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5476	20237.75	33	chr4	3074876	.	CCAGCAG	CCAGCAGCAGCAGCAG,C,CCAG,CCAGCAGCAG,CCAGCAGCAGCAGCAGCAG,CCAGCAGCAGCAGCAGCAGCAG	20237.75	.	AC=3,15,5,3,3,1;AF=0.071,0.357,0.119,0.071,0.071,0.024;AN=42;BaseQRankSum=0.322;DP=1615;ExcessHet=0.0944;FS=0.880;InbreedingCoeff=0.3000;MLEAC=3,15,5,3,3,1;MLEAF=0.071,0.357,0.119,0.071,0.071,0.024;MQ=59.93;MQRankSum=0.00;QD=34.24;ReadPosRankSum=-3.370e-01;SOR=0.541	GT:AD:DP:GQ:PGT:PID:PL:PS	2/2:0,0,26,0,0,0,0:28:81:.:.:1157,1109,1078,84,81,0,1109,1078,81,1078,1109,1078,81,1078,1078,1109,1078,81,1078,1078,1078,1109,1078,81,1078,1078,1078,1078	3	1	1	0
chr4	3074882	3074882	-	CAGCAGCAGCAGCAG	exonic	HTT	.	nonframeshift insertion	HTT:NM_002111:exon1:c.57_58insCAGCAGCAGCAGCAG:p.Q38_P39insQQQQQ,	Huntington disease, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5476	20237.75	33	chr4	3074876	.	CCAGCAG	CCAGCAGCAGCAGCAG,C,CCAG,CCAGCAGCAG,CCAGCAGCAGCAGCAGCAG,CCAGCAGCAGCAGCAGCAGCAG	20237.75	.	AC=3,15,5,3,3,1;AF=0.071,0.357,0.119,0.071,0.071,0.024;AN=42;BaseQRankSum=0.322;DP=1615;ExcessHet=0.0944;FS=0.880;InbreedingCoeff=0.3000;MLEAC=3,15,5,3,3,1;MLEAF=0.071,0.357,0.119,0.071,0.071,0.024;MQ=59.93;MQRankSum=0.00;QD=34.24;ReadPosRankSum=-3.370e-01;SOR=0.541	GT:AD:DP:GQ:PGT:PID:PL:PS	2/2:0,0,26,0,0,0,0:28:81:.:.:1157,1109,1078,84,81,0,1109,1078,81,1078,1109,1078,81,1078,1078,1109,1078,81,1078,1078,1078,1109,1078,81,1078,1078,1078,1078	3	1	1	0
chr4	5731513	5731513	C	G	exonic	EVC	.	nonsynonymous SNV	EVC:NM_001306090:exon4:c.C473G:p.S158C	Ellis-van Creveld syndrome, Autosomal recessive;Weyers acrodental dysostosis, Autosomal dominant	.	0	1506	14	2	0	18	0.00594059	.	.	194543	Curry-Hall_syndrome|Ellis-van_Creveld_syndrome|not_specified|not_provided	MONDO:MONDO:0008673,MedGen:C0457013,OMIM:193530,Orphanet:952|MONDO:MONDO:0009162,MedGen:C0013903,OMIM:225500,Orphanet:289|MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.02	D	0.009	B	0.016	B	0.091	N	0.938	N	1.5	L	0.33	T	-0.897	T	0.149	T	0.23	0.693	7.698	3.09	0.980	1.288	8.359	0.033	.	0.0002	0.00579073	0.0048	0.0004	8.642e-05	0.0001	0	0.0001	0.0055	0.0341	0.0040556	627	154602	rs150284356	0.0019	0.0019	0.0011	0.0028	0.0308	0.0019	0.0019	0.0298	0.0294	0.0001	2.236e-05	0	0	1.872e-05	0.0009	5.575e-05	0.0019	0.0308	0.0009	0.0010	0.0004	0.0015	0.0272	0.0008	0.0008	0.0234	0.0220	0.0002	0	6.541e-05	0	0.0002	0	0	4.411e-05	0	0.0272	0.045	0.40832	D	0.066	0.52727	T	0.009	0.15093	B	0.016	0.17743	B	0.090662	0.20364	N	0.506151	0.937537	0.26888	N	1.905	0.50856	L	0.23	0.59717	T	-2.46	0.53736	N	0.307	0.34659	-0.8971	0.48283	T	0.149	0.47487	T	10	0.006228596	0.00140	T	.	.	.	0.033	0.08068	.	.	0.695384053018	0.69276	0.20101062592298638	0.20018	.	.	0.372153639793	0.21140	T	0.37217	0.73641	T	-0.463818	0.00930	T	-0.413952	0.31771	T	0.0108419928448518	0.00154	T	0.740526	0.36724	T	0.10484914	0.24787	0.10847149	0.26130	0.11693055	0.27573	0.12203861	0.29440	-4.95	0.36292	T	0.25129089514443764	0.34006	0.077	0.06479	B	.;.	.;.	2.217135	0.28292	17.75	0.90625967589876466	0.19878	0.78038	0.38444	D	AEFBI	0.111050	0.22000	N	-0.3497750540183	0.27279	1.495471	-0.286488499668075	0.28543	1.592284	0.941644116218326	0.27486	0.615465	0.37627	0	0.653731	0.59785	0	0.658983	0.55881	0	0.635551	0.53088	0	.	.	3.95	3.09	0.34677	1.310000	0.33156	1.060000	0.23712	0.599000	0.40250	0.996000	0.39380	0.997000	0.33255	0.858000	0.40661	0.1765:0.6528:0.1707:0.0	8.359	0.31512	976	0.04745	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.02381	1550.98	41	chr4	5731513	.	C	G	1550.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.320;DP=909;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.20;ReadPosRankSum=-1.162e+00;SOR=0.648	GT:AD:DP:GQ:PL	0/1:84,68:152:99:1565,0,2060	20	0	1	0
chr4	6862306	6862306	T	C	exonic	KIAA0232	.	nonsynonymous SNV	KIAA0232:NM_001100590:exon6:c.T1924C:p.S642P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.01	B	0.01	B	0.003	N	0.997	D	1.87	L	.	.	-0.870	T	0.178	T	0.274	3.086	16.31	1.7	0.426	3.325	6.857	0.057	0.00517274981781	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1049661710	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.571e-06	6.567e-06	0	1.345e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.005	0.63226	D	0.024	0.56640	D	0.01	0.15535	B	0.01	0.14941	B	0.002610	0.36243	N	0.335799	0.997385	0.43845	D	1.845	0.48678	L	.	.	.	-1.21	0.30762	N	0.255	0.28849	-0.8699	0.50537	T	0.178	0.52350	T	9	0.10915744	0.20352	T	0.005173	0.13156	T	0.057	0.16321	0.471	0.54537	0.0675242888579	0.06100	0.46100661359438516	0.46018	0.236252140533	0.26164	0.507156848907	0.39825	T	0.032907	0.22691	T	-0.0647136	0.42169	T	-0.330733	0.41388	T	0.740678250789642	0.42773	D	0.785921	0.42389	T	0.33447877	0.55835	0.22762217	0.47778	0.33447877	0.55835	0.22762217	0.47777	-4.395	0.29489	T	.	.	0.096	0.18950	B	.;.	.;.	2.849310	0.37614	20.5	0.99790826753695638	0.87661	0.97746	0.76833	D	AEFBI	0.619401	0.60485	D	-0.157216252661344	0.34928	1.999906	-0.0453646344165534	0.37692	2.210343	0.99990703318278	0.45458	0.651	0.46895	0	0.653731	0.59785	0	0.65145	0.50148	0	0.635551	0.53088	0	.	.	5.73	1.7	0.23359	2.683000	0.46609	0.685000	0.20714	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0737:0.2877:0.6386	6.857	0.23230	682	0.59757	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.5	7325.55	151	chr4	6862306	.	T	C	7325.55	.	AC=21;AF=0.500;AN=42;BaseQRankSum=-3.348e+00;DP=3019;ExcessHet=54.0936;FS=242.021;InbreedingCoeff=-0.9914;MLEAC=21;MLEAF=0.500;MQ=60.00;MQRankSum=0.00;QD=2.50;ReadPosRankSum=0.996;SOR=13.535	GT:AD:DP:GQ:PL	0/1:114,36:150:99:194,0,2714	0	0	21	0
chr4	18021696	18021707	GCGGCGGCGGCA	-	exonic	LCORL	.	nonframeshift deletion	LCORL:NM_001166139:exon1:c.45_56del:p.A19_A22del	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1406435357	1.448e-05	1.369e-05	1.143e-05	1.761e-05	0.0002	9.46e-06	7.69e-06	1.115e-05	4.17e-06	6.733e-05	3.14e-05	4.111e-05	5.746e-05	0	0.0002	1.025e-05	0	2.571e-05	3.294e-05	3.287e-05	0	6.745e-05	7.251e-05	1.263e-05	8e-06	1.923e-05	1.033e-05	7.251e-05	0	0	0	0	0	0	2.946e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2025.94	33	chr4	18021695	.	GGCGGCGGCGGCA	G	2025.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.80;DP=831;ExcessHet=0.0000;FS=3.637;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=19.67;ReadPosRankSum=0.418;SOR=1.066	GT:AD:DP:GQ:PL	0/1:49,54:103:99:2040,0,1838	20	0	1	0
chr4	38828710	38828710	G	A	exonic	TLR6	.	nonsynonymous SNV	TLR6:NM_006068:exon2:c.C764T:p.T255I,	.	.	421	1097	4	0	0	4	0.00181984	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09	T	0.213	B	0.094	B	0.000	D	1.000	D	2.75	M	1.28	T	-0.797	T	0.130	T	0.777	1.113	9.540	5.56	2.638	2.647	12.885	0.188	0.0117312037557	0.0018	0.000798722	0.0015	0.0004	0.0012	0	0.0002	0.0022	0.0011	0.0004	0.0015265	236	154602	rs5743811	0.0013	0.0013	0.0013	0.0013	0.0036	0.0013	0.0012	0.0024	0.0021	0.0004	0.0016	0.0120	5.04e-05	3.745e-05	0.0036	0.0012	0.0019	0.0003	0.0010	0.0010	0.0011	0.0009	0.0018	0.0009	0.0008	0.0012	0.0011	0.0002	0.0088	0.0018	0.0089	0	0	0	0.0011	0.0009	0.0006	0.116	0.28395	T	0.131	0.34596	T	0.213	0.30041	B	0.094	0.30180	B	0.000046	0.53742	D	0.077324	0.83249	0.34939	D	3.23	0.89537	M	1.28	0.35960	T	-3.4	0.67014	D	0.283	0.35832	-0.7974	0.55298	T	0.130	0.43989	T	10	0.010984778	0.00242	T	0.011731	0.29644	T	0.188	0.46444	.	.	0.616389152107	0.61328	0.6445321019751712	0.64388	0.199283120582	0.22328	0.407116144896	0.26058	T	0.255357	0.62613	T	-0.246674	0.14510	T	-0.133582	0.60669	T	0.0711740972690485	0.08814	T	0.814918	0.46941	T	0.15862079	0.35676	0.15597034	0.36538	0.15862079	0.35676	0.15597034	0.36537	-5.938	0.49891	T	.	.	0.192	0.43311	B	.;.;.	.;.;.	2.436781	0.31353	18.72	0.98598469641978814	0.43467	0.92276	0.55340	D	AEFBI	0.332296	0.43175	N	0.109882624268639	0.46922	2.925355	0.177980449806451	0.48642	3.07746	0.998228128738114	0.36603	0.706548	0.73137	0	0.724815	0.89359	0	0.547309	0.15389	0	0.586402	0.36253	0	.	.	5.56	5.56	0.83678	2.001000	0.40444	7.565000	0.60571	0.618000	0.50648	0.340000	0.25675	1.000000	0.68203	0.351000	0.25682	0.0746:0.0:0.9254:0.0	12.885	0.57431	648	0.63242	.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1858.98	128	chr4	38828710	.	G	A	1858.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.590e-01;DP=1736;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.19;ReadPosRankSum=-7.200e-02;SOR=0.720	GT:AD:DP:GQ:PL	0/1:57,74:131:99:1873,0,1395	20	0	1	0
chr4	39103370	39103370	G	A	exonic	KLHL5	.	nonsynonymous SNV	KLHL5:NM_199039:exon6:c.G1201A:p.G401S	.	.	431	1090	1	0	0	1	0.000458505	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.000	D	1.000	D	1.43	L	-1.4	T	-0.649	T	0.318	T	0.925	5.558	35	5.66	2.832	9.869	20.125	0.283	0.0671321524532	.	0.000399361	0.0002	9.617e-05	0.0006	0	0	0.0001	0	0.0002	0.0001552	24	154602	rs34646863	0.0001	0.0001	0.0001	0.0001	0.0005	0.0001	9.833e-05	0.0003	0.0002	2.987e-05	0.0004	0	7.559e-05	0	0.0005	0.0001	0.0002	0.0002	0.0001	0.0001	0.0001	0.0001	0.0004	7.091e-05	5.748e-05	0.0001	8.879e-05	0	0	0.0001	0	0	0	0	0.0002	0	0.0004	0.015	0.58626	D	0.002	0.79402	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	1.2	0.30300	L	-1.4	0.80474	T	-5.79	0.88839	D	0.831	0.83167	-0.6495	0.62736	T	0.318	0.68709	T	10	0.47912934	0.60325	T	0.067132	0.70078	D	0.687	0.88585	.	.	0.873080159417	0.87184	0.7736518274314215	0.77315	1.09819229049	0.77641	0.885159254074	0.94644	D	0.583226	0.86385	D	0.158753	0.70085	D	0.324411	0.89276	D	0.346248745918274	0.26871	T	0.979882	0.93166	D	0.74068207	0.80331	0.79862654	0.88183	0.74068207	0.80333	0.79862654	0.88184	-10.477	0.79317	D	.	.	0.880	0.84837	P	.;.;.;.;.	.;.;.;.;.	5.698040	0.93098	33	0.99905181012605559	0.97576	0.95468	0.64841	D	AEFDGBHCI	0.929480	0.91530	D	0.548153182228521	0.69972	5.433318	0.650989047861216	0.78684	6.92598	0.999999999999975	0.74766	0.743674	0.98306	0	0.630245	0.54622	0	0.709663	0.75317	0	0.711	0.71501	0	.	.	5.66	5.66	0.87293	10.003000	0.99689	11.750000	0.95386	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:0.0:1.0:0.0	20.125	0.97977	511	0.75131	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2173.98	37	chr4	39103370	.	G	A	2173.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.778;DP=906;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.64;ReadPosRankSum=0.386;SOR=0.732	GT:AD:DP:GQ:PL	0/1:79,93:172:99:2188,0,1714	20	0	1	0
chr4	53145477	53145477	T	C	exonic	SCFD2	.	nonsynonymous SNV	SCFD2:NM_152540:exon5:c.A1417G:p.I473V,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.0	B	0.002	B	0.500	N	1.000	N	0.11	N	-1.0	T	-0.935	T	0.210	T	0.088	-2.061	0.006	-1.83	-0.366	-0.114	13.716	0.220	0.0383539863136	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	6.159e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.721	0.07645	T	1.0	0.02320	T	0.0	0.02946	B	0.002	0.06944	B	0.500149	0.11959	N	0.763345	0.999999	0.08975	N	0	0.06538	N	-1.0	0.79475	T	0.17	0.05503	N	0.062	0.03392	-0.9355	0.43318	T	0.210	0.56987	T	10	0.06979209	0.10064	T	0.038354	0.58173	D	0.220	0.51569	0.277	0.23004	0.218112801441	0.21410	0.08298338610072416	0.08233	0.143220915427	0.16158	0.389911532402	0.23657	T	0.060098	0.31295	T	-0.183051	0.23284	T	-0.500716	0.22273	T	0.0229056347161531	0.01012	T	0.688631	0.29780	T	0.024906462	0.01370	0.035201468	0.02727	0.024906462	0.01369	0.035201468	0.02726	-1.847	0.02653	T	.	.	0.071	0.05756	B	.;.	.;.	0.110711	0.05102	1.635	0.20966396445076937	0.00778	0.02623	0.07209	N	AEFBI	0.039849	0.05844	N	-1.39337633456026	0.02699	0.1195753	-1.34234769508233	0.03896	0.182715	0.00250006729755947	0.09478	0.706298	0.61202	0	0.724815	0.89359	0	0.653264	0.51672	0	0.613276	0.41899	0	.	.	4.81	-1.83	0.07410	-0.112000	0.10762	-0.809000	0.07342	-0.716000	0.03877	0.218000	0.24513	0.000000	0.08366	0.164000	0.20782	0.0:0.6067:0.0:0.3933	13.716	0.62173	591	0.68823	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.1667	733.66	116	chr4	53145477	.	T	C	733.66	.	AC=7;AF=0.167;AN=42;BaseQRankSum=-4.026e+00;DP=1805;ExcessHet=2.5830;FS=148.015;InbreedingCoeff=-0.1887;MLEAC=6;MLEAF=0.143;MQ=60.00;MQRankSum=0.00;QD=0.79;ReadPosRankSum=0.708;SOR=11.035	GT:AD:DP:GQ:PL	0/1:112,36:148:99:121,0,2298	14	0	7	0
chr4	55098698	55098698	C	T	exonic	KDR	.	nonsynonymous SNV	KDR:NM_002253:exon16:c.G2372A:p.R791Q,	Hemangioma, capillary infantile, somatic	.	.	.	.	.	.	.	.	0.9797	0.586	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08	T	0.97	D	0.3	B	0.000	D	1.000	D	0.825	L	-1.16	T	-0.420	T	0.307	T	0.639	3.933	20.1	5.97	2.831	4.571	20.406	0.431	0.0568527894096	.	.	1.653e-05	0	0	0.0002	0	0	0	0	1.94e-05	3	154602	rs758102038	1.648e-05	1.847e-05	2.051e-05	1.242e-05	0.0005	1.115e-05	9.37e-06	0.0003	0.0002	0	0	0	0.0005	0	0	5.419e-06	0	0	1.973e-05	2.627e-05	0	4.039e-05	0.0002	5.25e-06	2.46e-06	4.88e-06	1.83e-06	0	0	0	0	0.0002	0	0	2.941e-05	0	0	0.035	0.43708	D	0.067	0.44302	T	0.97	0.56973	D	0.3	0.41053	B	0.000139	0.49741	D	0.134191	0.999993	0.58761	D	1.5	0.37844	L	-1.16	0.78082	T	-2.4	0.52776	N	0.784	0.78072	-0.4205	0.71376	T	0.307	0.67768	T	10	0.41706958	0.56612	T	0.056853	0.66755	D	0.431	0.73735	0.535	0.64439	0.379559396232	0.37572	0.6643408950175378	0.66371	0.450419126629	0.44807	0.5437297225	0.44972	T	0.533778	0.83913	D	-0.0954843	0.37170	T	-0.0827843	0.64700	T	0.525377600069686	0.33563	D	0.954705	0.82752	D	0.312546	0.54005	0.39742497	0.64358	0.312546	0.54005	0.39742497	0.64358	-6.202	0.47939	T	.	.	0.113	0.22171	B	.;.	.;.	5.122464	0.85684	28.7	0.99930586709580149	0.99334	0.96370	0.68806	D	AEFBI	0.776443	0.70955	D	0.42637032692368	0.62877	4.511022	0.536533606400716	0.70467	5.509415	0.999988907132498	0.51787	0.706548	0.73137	0	0.573888	0.26702	0	0.724815	0.87919	0	0.711	0.71501	0	.	.	5.97	5.97	0.96935	4.708000	0.61548	7.727000	0.67598	0.596000	0.33519	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:1.0:0.0:0.0	20.406	0.99010	699	0.57969	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	442.98	34	chr4	55098698	.	C	T	442.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.090e-01;DP=758;ExcessHet=0.0000;FS=2.208;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=6.92;ReadPosRankSum=1.03;SOR=0.441	GT:AD:DP:GQ:PL	0/1:42,22:64:99:457,0,1060	20	0	1	0
chr4	55965813	55965815	AAG	-	exonic	CEP135	.	nonframeshift deletion	CEP135:NM_025009:exon8:c.998_1000del:p.E335del,	.	.	3	1480	38	1	0	40	0.0133333	.	.	207124	not_specified|not_provided|CEP135-related_disorder	MedGen:CN169374|MedGen:C3661900|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0018	0.000998403	0.0026	0.0003	0.0012	0	0.0065	0.0033	0.0057	0.0015	0.0002689	7	26028	rs1269311613	0.0021	0.0021	0.0021	0.0021	0.0168	0.0020	0.0020	0.0141	0.0131	0.0010	0.0018	0.0074	0	0.0073	0.0168	0.0017	0.0035	0.0014	0.0021	0.0021	0.0018	0.0024	0.0024	0.0019	0.0018	0.0021	0.0020	0.0004	0	0.0018	0.0092	0	0.0063	0.0034	0.0024	0.0057	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1731.94	34	chr4	55965812	.	AAAG	A	1731.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.675e+00;DP=811;ExcessHet=0.0000;FS=1.821;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=17.15;ReadPosRankSum=0.675;SOR=0.481	GT:AD:DP:GQ:PL	0/1:55,46:101:99:1746,0,2150	20	0	1	0
chr4	68647370	68647370	C	T	exonic	UGT2B15	.	nonsynonymous SNV	UGT2B15:NM_001076:exon6:c.G1327A:p.V443I,	.	.	2	1506	14	0	0	14	0.00462657	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.98	T	0.0	B	0.0	B	0.416	N	1.000	N	0.87	L	0.03	T	-1.004	T	0.117	T	0.176	-1.655	0.012	2.11	0.448	-0.438	7.697	0.118	0.00611392601341	0.0006	0.000399361	0.0005	0	0.0003	0	0	0.0007	0.0022	0.0003	0.0004528	70	154602	rs138592773	0.0004	0.0004	0.0004	0.0004	0.0129	0.0004	0.0004	0.0105	0.0096	0.0002	0.0007	0.0039	0	0	0.0129	0.0003	0.0011	0.0003	0.0004	0.0004	0.0004	0.0003	0.0004	0.0003	0.0003	0.0003	0.0002	0.0001	0	0.0002	0.0043	0	0	0.0034	0.0004	0.0014	0	0.345	0.12511	T	0.775	0.04402	T	0.0	0.02946	B	0.0	0.01387	B	0.415921	0.12934	N	0.675279	0.999997	0.08975	N	-0.23	0.03940	N	0.03	0.62183	T	-0.89	0.24026	N	0.085	0.06190	-1.0042	0.28696	T	0.117	0.41253	T	10	0.0070631504	0.00161	T	0.006114	0.15993	T	0.118	0.32913	.	.	0.258283824007	0.25425	0.07614621897107073	0.07550	0.0180437409846	0.01760	0.248619198799	0.03624	T	0.011913	0.10560	T	-0.482896	0.00712	T	-0.559159	0.16457	T	0.00891369008388993	0.00111	T	0.585341	0.21331	T	0.08366342	0.19330	0.0486009	0.07254	0.08366342	0.19329	0.0486009	0.07254	-2.633	0.06758	T	.	.	0.106	0.19478	B	.	.	0.208088	0.05921	2.360	0.14492955580601063	0.00322	0.05700	0.11621	N	AEFGI	0.184231	0.31156	N	-1.07670622988102	0.07074	0.327575	-1.07925495378616	0.08110	0.3972948	1.09038223899078E-5	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	2.96	2.11	0.26299	-0.892000	0.04239	.	.	-0.207000	0.08511	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.0:0.8673:0.0:0.1327	7.697	0.27766	828	0.39726	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2494.98	39	chr4	68647370	.	C	T	2494.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.523e+00;DP=986;ExcessHet=0.0000;FS=3.120;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.88;MQRankSum=0.00;QD=11.77;ReadPosRankSum=-2.291e+00;SOR=0.510	GT:AD:DP:GQ:PL	0/1:110,102:212:99:2509,0,2797	20	0	1	0
chr4	73442372	73442372	A	C	exonic	AFP	.	nonsynonymous SNV	AFP:NM_001134:exon5:c.A559C:p.K187Q	Alpha-fetoprotein deficiency, Autosomal recessive	.	0	1434	86	2	0	90	0.030426	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3	T	0.79	P	0.541	P	0.000	D	0.645	D	2.3	M	0.85	T	-0.776	T	0.090	T	0.215	2.514	14.37	4.11	2.250	0.772	8.108	0.090	.	0.0085	0.00579073	0.0107	0.0015	0.0046	0	0.0056	0.0148	0.0111	0.0120	0.0102198	1580	154602	rs35765619	0.0100	0.0100	0.0099	0.0101	0.0473	0.0098	0.0098	0.0427	0.0409	0.0021	0.0061	0.0598	0.0001	0.0062	0.0473	0.0092	0.0150	0.0114	0.0086	0.0086	0.0084	0.0089	0.0122	0.0082	0.0081	0.0108	0.0102	0.0018	0.0351	0.0122	0.0614	0	0.0041	0.0340	0.0095	0.0208	0.0122	0.205	0.20078	T	0.33	0.19721	T	0.79	0.44599	P	0.49	0.47330	P	0.000023	0.55875	D	0.114545	0.645196	0.32912	D	1.83	0.48079	L	0.85	0.47130	T	-0.26	0.11185	N	0.149	0.15187	-0.7760	0.56526	T	0.090	0.34683	T	10	0.0028496683	0.00045	T	.	.	.	0.090	0.26093	.	.	.	.	0.10880772504355984	0.10809	0.243530582748	0.26857	0.423839718103	0.28365	T	0.111791	0.42756	T	-0.543176	0.00321	T	-0.542623	0.18039	T	0.0308828407571469	0.02127	T	0.712529	0.32403	T	0.2085064	0.43089	0.17459998	0.39867	0.18125178	0.39286	0.17459998	0.39866	-3.377	0.14748	T	.	.	0.099	0.18828	B	.;.	.;.	2.461662	0.31716	18.82	0.98290296841271174	0.39945	0.67771	0.33554	D	AEFDBHCI	0.226950	0.35082	N	0.188298087251018	0.50637	3.251831	0.186493612588919	0.49107	3.117882	0.999999999849649	0.74766	0.516011	0.20929	0	0.59043	0.45803	0	0.573888	0.23631	0	0.586402	0.36253	0	.	.	5.33	4.11	0.47350	0.459000	0.21619	3.047000	0.36105	0.691000	0.84096	0.075000	0.22209	0.992000	0.31684	0.953000	0.50222	0.9082:0.0:0.0918:0.0	8.108	0.30059	783	0.47268	Serum albumin, N-terminal|Serum albumin, conserved site|Serum albumin, N-terminal|Serum albumin, N-terminal|Serum albumin, N-terminal;Serum albumin, N-terminal|Serum albumin, conserved site|Serum albumin, N-terminal|Serum albumin, N-terminal|Serum albumin, N-terminal	.	.	.	.	rs35765619	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.04762	2852.11	40	chr4	73442372	.	A	C	2852.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.699;DP=868;ExcessHet=0.1072;FS=1.092;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=14.12;ReadPosRankSum=0.632;SOR=0.793	GT:AD:DP:GQ:PL	0/1:45,55:100:99:1477,0,1089	19	0	2	0
chr4	75866203	75866203	G	T	exonic	PPEF2	.	nonsynonymous SNV	PPEF2:NM_006239:exon15:c.C1906A:p.Q636K,	.	.	429	1091	2	0	0	2	0.000915751	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.78	T	0.002	B	0.002	B	0.004	U	1.000	N	0.295	N	1.0	T	-1.044	T	0.055	T	0.116	-1.304	0.037	3.82	1.168	1.612	11.922	0.028	0.00509222113903	.	0.00159744	0.0006	0	0	0	0	1.514e-05	0.0011	0.0049	0.0005433	84	154602	rs539493453	0.0003	0.0003	0.0002	0.0005	0.0052	0.0003	0.0003	0.0048	0.0046	0	0	0	0	0	0.0002	9e-06	0.0002	0.0052	0.0002	0.0002	6.424e-05	0.0004	0.0066	0.0002	0.0001	0.0048	0.0042	0	0	0	0	0	0	0	0	0	0.0066	0.712	0.04020	T	0.841	0.03600	T	0.002	0.09854	B	0.002	0.06944	B	0.003910	0.34342	U	0.237586	0.999988	0.18198	N	0.755	0.19153	N	1.0	0.41392	T	-0.53	0.16393	N	0.137	0.13484	-1.0439	0.16148	T	0.055	0.23148	T	10	0.0052017868	0.00113	T	0.005092	0.12908	T	0.028	0.06331	.	.	0.466740653422	0.46302	0.4958766630899618	0.49508	0.190758179281	0.21387	0.351088702679	0.18081	T	0.036421	0.24096	T	-0.596656	0.00153	T	-0.62929	0.10469	T	0.0183623006063382	0.00554	T	0.566043	0.20025	T	0.12984602	0.30314	0.08722335	0.20261	0.12984602	0.30314	0.08722335	0.20260	-8.238	0.62680	D	.	.	0.071	0.04002	B	.	.	0.833657	0.12054	8.606	0.24112015898190514	0.01051	0.48457	0.28211	N	AEFBI	0.169204	0.29602	N	-0.730667140065841	0.15164	0.7618034	-0.611382151137117	0.19201	1.029114	0.691355817831795	0.22592	0.487112	0.14033	0	0.563428	0.19063	0	0.573888	0.23631	0	0.530356	0.10902	0	.	.	4.67	3.82	0.43153	1.980000	0.40241	3.223000	0.36864	0.618000	0.50648	0.623000	0.27939	0.917000	0.28245	0.239000	0.22975	0.0:0.0:0.8249:0.1751	11.922	0.52081	902	0.24074	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	607.98	35	chr4	75866203	.	G	T	607.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.20;DP=767;ExcessHet=0.0000;FS=6.674;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.13;ReadPosRankSum=0.399;SOR=1.916	GT:AD:DP:GQ:PL	0/1:38,22:60:99:622,0,1035	20	0	1	0
chr4	75981403	75981403	T	A	exonic	SDAD1	.	nonsynonymous SNV	SDAD1:NM_001288983:exon3:c.A263T:p.N88I	.	.	427	1094	1	0	0	1	0.00045683	.	.	3480307	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.04	D	0.841	P	0.532	P	0.000	D	0.856	D	2.07	M	2.59	T	-1.032	T	0.057	T	0.41	4.369	23.0	5.36	2.016	7.264	13.306	0.168	0.0179162479236	.	0.000599042	9.064e-05	0	0	0	0	0	0	0.0007	9.06e-05	14	154602	rs150774938	5.61e-05	5.609e-05	3.131e-05	8.114e-05	0.0009	4.611e-05	4.237e-05	0.0008	0.0007	0	0	0	0	0	0	0	4.969e-05	0.0009	7.221e-05	7.218e-05	1.285e-05	0.0001	0.0023	3.968e-05	3.125e-05	0.0013	0.0010	0	0	0	0	0	0	0	0	0	0.0023	0.005	0.63226	D	0.003	0.76473	D	0.841	0.46518	P	0.532	0.48601	P	0.000007	0.62929	D	0.141089	0.855867	0.35301	D	2.625	0.76847	M	2.59	0.13317	T	-2.66	0.56945	D	0.618	0.63459	-1.0320	0.19809	T	0.057	0.23866	T	10	0.1422495	0.27021	T	0.017916	0.39803	T	0.168	0.42943	0.637	0.77361	0.428976297845	0.42518	0.43920713489414054	0.43837	0.150631875348	0.16989	0.535908162594	0.43868	T	0.167482	0.51413	T	-0.37503	0.03347	T	-0.372079	0.36647	T	0.187377121310227	0.19689	T	0.962504	0.86559	D	0.36879066	0.58495	0.26846153	0.52715	0.36879066	0.58495	0.26846153	0.52714	-11.317	0.81368	D	.	.	0.214	0.47150	B	.;.	.;.	3.920273	0.57225	23.8	0.99208115576207045	0.55503	0.98375	0.82137	D	AEFBI	0.816658	0.73833	D	0.552911808860178	0.70258	5.475442	0.58251921208654	0.73686	6.011457	0.999906449252612	0.45458	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.36	5.36	0.76624	7.085000	0.76547	7.862000	0.71495	0.651000	0.53179	1.000000	0.71638	1.000000	0.68203	0.836000	0.39433	0.0:0.0:0.0:1.0	13.306	0.59789	900	0.24599	Uncharacterised domain NUC130/133, N-terminal;Uncharacterised domain NUC130/133, N-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1662.98	34	chr4	75981403	.	T	A	1662.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.34;DP=832;ExcessHet=0.0000;FS=2.018;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.87;ReadPosRankSum=1.15;SOR=0.868	GT:AD:DP:GQ:PL	0/1:84,69:153:99:1677,0,2002	20	0	1	0
chr4	87615398	87615398	T	0	exonic	DSPP	.	.	.	Deafness, autosomal dominant 39, with dentinogenesis, Autosomal dominant;Dentin dysplasia, type II, Autosomal dominant;Dentinogenesis imperfecta, Shields type II, Autosomal dominant;Dentinogenesis imperfecta, Shields type III, Autosomal dominant	.	1101	241	102	25	53	205	0.239748	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.381	8813.52	57	chr4	87615398	.	T	C,*	8813.52	.	AC=13,3;AF=0.310,0.071;AN=42;BaseQRankSum=-1.140e-01;DP=1014;ExcessHet=1.5101;FS=0.523;InbreedingCoeff=-0.0096;MLEAC=13,3;MLEAF=0.310,0.071;MQ=59.94;MQRankSum=0.00;QD=12.77;ReadPosRankSum=-8.740e-01;SOR=0.624	GT:AD:DP:GQ:PL	0/2:33,0,17:50:99:615,714,2059,0,1345,1294	8	3	7	0
chr4	87615730	87615733	ATAG	0	exonic	DSPP	.	.	.	Deafness, autosomal dominant 39, with dentinogenesis, Autosomal dominant;Dentin dysplasia, type II, Autosomal dominant;Dentinogenesis imperfecta, Shields type II, Autosomal dominant;Dentinogenesis imperfecta, Shields type III, Autosomal dominant	.	983	222	100	33	184	350	0.272131	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6905	6438.4	35	chr4	87615730	.	ATAG	A,*	6438.4	.	AC=12,23;AF=0.286,0.548;AN=42;BaseQRankSum=2.60;DP=1174;ExcessHet=2.5830;FS=1.919;InbreedingCoeff=-0.2000;MLEAC=12,23;MLEAF=0.286,0.548;MQ=57.85;MQRankSum=-3.073e+00;QD=6.83;ReadPosRankSum=1.06;SOR=0.767	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:25,0,25:50:99:.:.:929,1004,2028,0,1023,946	0	2	2	0
chr4	87615734	87615767	CAGTGACAGCAGCAACAGCAGTGACAGCAGCGAT	0	exonic	DSPP	.	.	.	Deafness, autosomal dominant 39, with dentinogenesis, Autosomal dominant;Dentin dysplasia, type II, Autosomal dominant;Dentinogenesis imperfecta, Shields type II, Autosomal dominant;Dentinogenesis imperfecta, Shields type III, Autosomal dominant	.	1008	200	99	33	182	347	0.292035	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6905	5806.96	35	chr4	87615734	.	CAGTGACAGCAGCAACAGCAGTGACAGCAGCGAT	C,*	5806.96	.	AC=12,23;AF=0.286,0.548;AN=42;BaseQRankSum=1.10;DP=1195;ExcessHet=2.5830;FS=1.919;InbreedingCoeff=-0.2000;MLEAC=12,23;MLEAF=0.286,0.548;MQ=57.82;MQRankSum=-3.073e+00;QD=6.42;ReadPosRankSum=0.870;SOR=0.774	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:25,0,25:50:99:.:.:929,1004,2028,0,1023,946	0	2	2	0
chr4	99318097	99318097	C	G	exonic	ADH1B	.	nonsynonymous SNV	ADH1B:NM_000668:exon3:c.G208C:p.A70P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.973	D	0.964	D	0.274	N	0.986	N	1.745	L	3.67	T	-1.090	T	0.040	T	0.61	3.658	18.60	2.36	0.190	4.136	8.164	0.203	0.00535122917252	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.002	0.83351	D	.	.	.	.	.	.	0.274284	0.15067	N	0.646799	0.986388	0.24621	N	.	.	.	3.67	0.04188	T	-2.9	0.60827	D	0.403	0.44379	-1.0901	0.05515	T	0.040	0.17404	T	10	0.78878886	0.78477	D	0.005351	0.13710	T	0.203	0.48915	0.793	0.91438	0.298403945805	0.29456	0.868512317625715	0.86816	0.674296566844	0.59635	0.391434371471	0.23871	T	0.010873	0.09774	T	-0.116403	0.33711	T	-0.404982	0.32804	T	0.962773263454437	0.66465	D	0.949205	0.80472	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.888	0.85099	P	.;.;.;.	.;.;.;.	3.508601	0.49119	22.7	0.99207734913482859	0.55472	0.90290	0.51349	D	AEFDGBI	0.896173	0.83696	D	-0.172128327332495	0.34298	1.956007	-0.333588702841019	0.27021	1.496536	0.828569575732975	0.24652	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	4.17	2.36	0.28258	3.367000	0.52075	3.858000	0.40123	-0.233000	0.07663	0.778000	0.29449	0.208000	0.23622	0.125000	0.19370	0.168:0.7474:0.0:0.0847	8.164	0.30373	624	0.65661	Alcohol dehydrogenase, N-terminal|Alcohol dehydrogenase, zinc-type, conserved site|Polyketide synthase, enoylreductase domain;Alcohol dehydrogenase, N-terminal|Alcohol dehydrogenase, zinc-type, conserved site;Alcohol dehydrogenase, N-terminal|Alcohol dehydrogenase, zinc-type, conserved site;Alcohol dehydrogenase, N-terminal|Alcohol dehydrogenase, zinc-type, conserved site|Polyketide synthase, enoylreductase domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.45	6049.22	166	chr4	99318097	.	C	G	6049.22	.	AC=18;AF=0.450;AN=40;BaseQRankSum=-2.037e+00;DP=3479;ExcessHet=30.0624;FS=302.606;InbreedingCoeff=-0.7873;MLEAC=19;MLEAF=0.475;MQ=59.97;MQRankSum=0.00;QD=2.22;ReadPosRankSum=-1.750e-01;SOR=13.960	GT:AD:DP:GQ:PL	0/1:108,43:151:99:115,0,1680	2	0	18	1
chr4	99347057	99347057	C	G	exonic	ADH1C	.	nonsynonymous SNV	ADH1C:NM_000669:exon3:c.G208C:p.A70P,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.79402	D	0.987	0.61912	D	0.964	0.71005	D	.	.	.	.	.	.	.	1.585	0.39878	L	.	.	.	.	.	.	0.553	0.57860	.	.	.	.	.	.	.	0.45086047	0.58689	T	.	.	.	.	.	.	.	0.456647468687	0.45291	0.8867280223172282	0.88641	.	.	0.398606598377	0.24874	T	0.025436	0.35537	T	0.163225	0.70500	D	-0.00331565	0.70121	D	.	.	.	0.937806	0.78939	D	0.76270866	0.81614	0.69800264	0.82213	0.76270866	0.81615	0.69800264	0.82214	-9.592	0.71430	D	.	.	0.950	0.86857	P	.;.;.	.;.;.	3.454651	0.48119	22.6	0.99707451619795451	0.81074	0.77981	0.38408	D	AEFI	0.799589	0.72581	D	.	.	.	.	.	.	2.3174768173114E-5	0.03498	0.053691	0.00478	0	0.063388	0.01293	0	0.060301	0.00762	0	0.057018	0.00518	0	.	.	3.71	2.86	0.32427	2.765000	0.47304	4.616000	0.44056	0.549000	0.26987	0.378000	0.25989	0.437000	0.24884	0.144000	0.20092	0.0:0.9091:0.0:0.0909	11.418	0.49207	625	0.65529	Alcohol dehydrogenase, N-terminal|Alcohol dehydrogenase, zinc-type, conserved site|Polyketide synthase, enoylreductase domain;Alcohol dehydrogenase, N-terminal|Alcohol dehydrogenase, zinc-type, conserved site;Alcohol dehydrogenase, N-terminal|Alcohol dehydrogenase, zinc-type, conserved site	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.4	6153.33	123	chr4	99347057	.	C	G	6153.33	.	AC=16;AF=0.400;AN=40;BaseQRankSum=-8.170e-01;DP=2885;ExcessHet=20.9642;FS=293.864;InbreedingCoeff=-0.6783;MLEAC=17;MLEAF=0.425;MQ=59.97;MQRankSum=0.00;QD=3.24;ReadPosRankSum=-6.350e-01;SOR=13.479	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:69,60:129:99:.:.:646,0,1038	4	0	16	1
chr4	99650604	99650604	C	T	exonic	C4orf54	.	nonsynonymous SNV	C4orf54:NM_001354435:exon2:c.G4045A:p.A1349T,	.	.	420	1044	54	4	0	62	0.0288372	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.56	T	.	.	.	.	.	.	.	.	-0.145	N	1.41	T	-1.030	T	0.024	T	0.017	-1.325	0.032	-8.69	-3.019	-3.390	6.006	0.021	.	.	0.00179712	0.0219	0.0018	0.0106	0	0	0.0301	0.0152	0.0205	0.0028784	445	154602	rs578237898	0.0078	0.0074	0.0072	0.0084	0.0200	0.0077	0.0076	0.0191	0.0188	0.0010	0.0018	0.0485	0.0001	0.0099	0.0153	0.0064	0.0100	0.0200	0.0074	0.0074	0.0072	0.0075	0.0149	0.0070	0.0068	0.0121	0.0111	0.0014	0.0592	0.0029	0.0430	0	0.0096	0.0034	0.0092	0.0057	0.0149	0.634	0.05091	T	0.191	0.28391	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.41	0.33412	T	-0.33	0.12472	N	0.003	0.00016	-1.0305	0.20292	T	0.024	0.10284	T	6	0.001952678	0.00027	T	.	.	.	0.021	0.04004	.	.	.	.	0.16156227208077273	0.16077	.	.	.	.	.	0.002784	0.02176	T	-0.757066	0.00016	T	-0.844654	0.01031	T	0.00761506947138638	0.00088	T	0.423058	0.11286	T	0.02955128	0.02469	0.043511447	0.05428	0.02955128	0.02468	0.043511447	0.05428	-3.841	0.21418	T	.	.	0.064	0.01645	B	.	.	-1.237357	0.00495	0.011	0.4261979673845796	0.03154	0.00836	0.03355	N	AEFBI	0.062861	0.12112	N	-1.44376705273793	0.02266	0.09988632	-1.59410947096352	0.01691	0.07681173	0.999992599705002	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.657636	0.52715	0	0.564101	0.26826	0	.	.	4.34	-8.69	0.00741	-3.446000	0.00521	-6.698000	0.01329	-1.792000	0.00636	0.000000	0.06391	0.000000	0.08366	0.684000	0.33659	0.3552:0.1775:0.0:0.4673	6.006	0.18778	926	0.17793	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	4666.11	35	chr4	99650604	.	C	T	4666.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.03;DP=1301;ExcessHet=0.1072;FS=0.000;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=14.67;ReadPosRankSum=0.235;SOR=0.706	GT:AD:DP:GQ:PL	0/1:77,85:162:99:2240,0,2027	19	0	2	0
chr4	103153047	103153047	C	T	exonic	CENPE	.	nonsynonymous SNV	CENPE:NM_001286734:exon24:c.G3162A:p.M1054I	.	.	644	877	1	0	0	1	0.000569801	1.0000	0.99	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.451	B	0.077	B	.	.	0.960	D	1.995	M	-3.35	D	0.317	D	0.682	D	0.294	1.704	11.66	4.53	2.330	2.568	10.524	0.264	0.0911568878496	0.0002	0.000199681	0.0002	0	0.0002	0	0	0.0002	0.0012	7.222e-05	0.0001423	22	154602	rs150907416	8.122e-05	8.14e-05	7.259e-05	8.994e-05	0.0028	6.91e-05	6.46e-05	0.0018	0.0014	0	0.0002	0.0003	0	0	0.0028	6.864e-05	0.0001	5.899e-05	6.571e-05	6.563e-05	7.713e-05	5.376e-05	0.0001	3.516e-05	2.616e-05	2.847e-05	1.859e-05	4.816e-05	0	0.0001	0	0	0	0	7.353e-05	0.0005	0	0.001	0.91255	D	0.105	0.38016	T	0.451	0.36091	B	0.07	0.28532	B	.	.	.	.	0.959934	0.38153	D	2.52	0.73523	M	-3.35	0.94022	D	-1.64	0.42763	N	0.398	0.43899	0.317	0.87828	D	0.682	0.89018	D	8	0.07596052	0.11805	T	0.091157	0.75654	D	0.264	0.57741	0.19	0.10039	0.591028040172	0.58780	0.21279998098495562	0.21195	0.0643614342175	0.07174	0.563201487064	0.47719	T	0.057053	0.30459	T	-0.0461918	0.45023	T	-0.0396994	0.67721	D	0.109775996960493	0.13400	T	0.813219	0.46599	T	0.49649844	0.66889	0.4579249	0.68500	0.49649844	0.66890	0.4579249	0.68501	-3.092	0.11205	T	0.7502024438304232	0.83228	0.641	0.73066	P	.;.;.;.	.;.;.;.	4.565926	0.71987	25.8	0.95725093176073117	0.27656	0.86780	0.46136	D	AEFBI	0.289828	0.40137	N	0.144032716023555	0.48530	3.064133	0.222730288136605	0.51111	3.296526	0.9998562892501	0.44174	0.732398	0.92422	0	0.708844	0.79440	0	0.658983	0.55881	0	0.727631	0.95156	0	.	.	4.53	4.53	0.55009	3.667000	0.54283	6.789000	0.56601	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.958000	0.51230	0.0:0.9059:0.0:0.0941	10.524	0.44121	911	0.21964	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	804.98	34	chr4	103153047	.	C	T	804.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.12;DP=788;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.15;ReadPosRankSum=0.193;SOR=0.720	GT:AD:DP:GQ:PL	0/1:54,34:88:99:819,0,1411	20	0	1	0
chr4	105927351	105927351	G	A	exonic	NPNT	.	nonsynonymous SNV	NPNT:NM_001033047:exon3:c.G188A:p.R63Q	.	.	434	1085	3	0	0	3	0.00138058	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.47	T	0.001	B	0.002	B	0.203	N	1.000	N	-0.55	N	-0.22	T	-1.017	T	0.081	T	0.245	0.575	7.104	-1.61	-0.079	2.960	6.643	0.181	0.0146728784017	.	0.000998403	0.0006	0	0	0	0	1.512e-05	0	0.0045	0.0005433	84	154602	rs533479092	0.0003	0.0003	0.0002	0.0004	0.0037	0.0002	0.0002	0.0033	0.0032	0	4.496e-05	0	0	0	0.0009	4.954e-05	0.0002	0.0037	0.0002	0.0002	7.714e-05	0.0002	0.0041	0.0001	9.241e-05	0.0027	0.0023	2.409e-05	0	0	0	0	0	0	4.411e-05	0	0.0041	0.369	0.16198	T	0.181	0.35840	T	0.001	0.07471	B	0.0	0.06944	B	0.202849	0.16556	N	0.623147	1	0.08975	N	-1.245	0.00777	N	-0.22	0.66474	T	-0.22	0.12099	N	0.167	0.20395	-1.0167	0.24787	T	0.081	0.32002	T	10	0.016810298	0.00356	T	0.014673	0.34938	T	0.181	0.45247	0.541	0.65304	0.282575091529	0.27877	0.11749829438852655	0.11677	0.0599564255343	0.06670	0.202513605356	0.00533	T	0.060436	0.31388	T	-0.443118	0.01240	T	-0.409566	0.32275	T	0.0196754608650993	0.00670	T	0.871813	0.62362	D	0.029502943	0.02456	0.033401653	0.02229	0.029502943	0.02455	0.033401653	0.02229	-3.053	0.10763	T	.	.	0.056	0.00625	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	2.230224	0.28468	17.81	0.84472278409091095	0.15312	0.54462	0.29622	D	AEFBI	0.111430	0.22062	N	-1.08137897728246	0.06986	0.3232254	-0.988335456868793	0.10047	0.5035776	0.00426606430783798	0.10480	0.693126	0.56070	0	0.659464	0.62310	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	5.77	-1.61	0.07951	3.032000	0.49425	2.819000	0.34952	-0.148000	0.12190	1.000000	0.71638	1.000000	0.68203	0.245000	0.23132	0.1914:0.445:0.3636:0.0	6.643	0.22113	903	0.23940	EGF-like domain|EGF-like domain;.;.;.;.;.;EGF-like domain|EGF-like domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1826.98	35	chr4	105927351	.	G	A	1826.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.00;DP=852;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.94;ReadPosRankSum=-2.450e-01;SOR=0.724	GT:AD:DP:GQ:PL	0/1:87,80:167:99:1841,0,1910	20	0	1	0
chr4	108165124	108165124	C	T	exonic	LEF1	.	nonsynonymous SNV	LEF1:NM_001130713:exon2:c.G253A:p.D85N	Sebaceous tumors, somatic (3)	.	432	1045	42	3	0	48	0.0224509	.	.	698331	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.33	T	0.91	P	0.285	B	0.000	D	0.996	D	1.355	L	-5.51	D	0.801	D	0.883	D	0.095	4.992	29.3	5.8	2.758	5.325	20.069	0.486	.	0.0052	0.00579073	0.0084	0.0018	0.0110	0.0021	0.0103	0.0077	0.0066	0.0161	0.00815	1260	154602	rs61752607	0.0086	0.0086	0.0084	0.0087	0.0167	0.0085	0.0084	0.0160	0.0157	0.0018	0.0098	0.0014	0.0070	0.0095	0.0099	0.0083	0.0085	0.0167	0.0062	0.0063	0.0065	0.0059	0.0123	0.0059	0.0058	0.0098	0.0089	0.0018	0.0121	0.0088	0.0006	0.0027	0.0087	0.0068	0.0079	0.0104	0.0123	0.301	0.78490	T	0.258	0.64786	T	0.165	0.49442	B	0.028	0.37187	B	0.000000	0.84330	D	0.049443	0.994903	0.43008	D	1.385	0.34509	L	-5.56	0.99392	D	-2.18	0.55662	N	0.536	0.61002	0.801	0.94421	D	0.883	0.96129	D	10	0.010001779	0.00224	T	.	.	.	0.486	0.77464	.	.	0.802756854265	0.80091	0.26479490399013794	0.26392	0.279026521573	0.30382	0.602982640266	0.53325	T	0.495556	0.81823	T	-0.262121	0.12654	T	-0.136322	0.60436	T	0.0226908288392035	0.00987	T	0.981302	0.95706	D	0.21579985	0.44022	0.3188588	0.57851	0.21579985	0.44022	0.3188588	0.57850	-4.164	0.31356	T	.	.	0.104	0.24294	B	.;.;.;.;.;.	.;.;.;.;.;.	4.467721	0.69589	25.4	0.99902625920476185	0.97426	0.97734	0.76747	D	AEFDBI	0.791559	0.72011	D	0.268939013737371	0.54580	3.623	0.409850153705389	0.62176	4.428918	0.999999999997982	0.74766	0.625279	0.40028	0	0.60822	0.50512	0	0.590023	0.30420	0	0.530356	0.10902	0	.	.	5.8	5.8	0.92081	5.399000	0.66059	7.658000	0.64072	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.976000	0.56436	0.0:1.0:0.0:0.0	20.069	0.97712	943	0.12886	CTNNB1 binding, N-teminal;.;.;.;CTNNB1 binding, N-teminal;CTNNB1 binding, N-teminal	.	.	.	.	.	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	0.04762	2140.11	33	chr4	108165124	.	C	T	2140.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.01;DP=872;ExcessHet=0.1072;FS=4.724;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=9.91;ReadPosRankSum=-1.099e+00;SOR=1.002	GT:AD:DP:GQ:PL	0/1:56,63:119:99:1502,0,1253	19	0	2	0
chr4	119271801	119271801	G	C	exonic	USP53	.	nonsynonymous SNV	USP53:NM_001371396:exon13:c.G1788C:p.K596N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.998	D	0.82	P	0.035	N	0.786	D	2.015	M	0.48	T	-0.407	T	0.243	T	0.062	4.042	20.7	3.71	1.263	1.359	9.652	0.112	0.0273671481651	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	6.841e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.025	0.56192	D	0.998	0.73220	D	0.82	0.59072	P	0.035464	0.24640	N	0.405874	0.786313	0.34330	D	2.585	0.75554	M	0.48	0.55945	T	-1.65	0.39503	N	0.403	0.44379	-0.4066	0.71818	T	0.243	0.61142	T	10	0.2934904	0.46923	T	0.027367	0.50187	D	0.112	0.31546	0.179	0.08626	0.68695168648	0.68427	0.14079476716113953	0.14002	0.636712139675	0.57440	0.475926458836	0.35496	T	0.095754	0.39686	T	-0.159747	0.26799	T	-0.467242	0.25814	T	0.965206325054169	0.67194	D	0.876112	0.58827	D	0.22674352	0.45361	0.18983121	0.42352	0.22674352	0.45362	0.18983121	0.42351	-6.968	0.53800	T	.	.	0.529	0.65890	A	.;.	.;.	3.288410	0.45089	22.1	0.99870641327622545	0.94815	0.94427	0.61130	D	AEFDBI	0.426737	0.49097	N	0.437979510911287	0.63525	4.587841	0.405475257690823	0.61905	4.397378	0.999808580347288	0.43304	0.730579	0.87903	0	0.588015	0.36545	0	0.65145	0.50148	0	0.648885	0.59868	0	.	.	5.47	3.71	0.41733	1.781000	0.38274	2.576000	0.33390	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.2234:0.0:0.7766:0.0	9.652	0.39066	546	0.72524	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.1923	286.74	129	chr4	119271801	.	G	C	286.74	.	AC=5;AF=0.192;AN=26;BaseQRankSum=-3.983e+00;DP=2647;ExcessHet=1.1607;FS=242.086;InbreedingCoeff=-0.2765;MLEAC=7;MLEAF=0.269;MQ=60.00;MQRankSum=0.00;QD=0.45;ReadPosRankSum=1.51;SOR=10.248	GT:AD:DP:GQ:PL	0/1:92,39:131:99:131,0,2050	8	0	5	8
chr4	134199956	134199956	C	T	exonic	PABPC4L	.	nonsynonymous SNV	PABPC4L:NM_001114734:exon2:c.G1064A:p.R355H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0226665779072	0.0004	0.000399361	0.0001	0.0009	0	0	0	0	0	0	2.59e-05	4	154602	rs373992035	1.929e-05	2.052e-05	1.833e-05	2.028e-05	0.0005	1.321e-05	1.133e-05	0.0003	0.0002	0.0005	0.0003	0	0	0	0	9.268e-07	1.724e-05	0	0.0002	0.0002	0.0002	0.0001	0.0006	0.0001	0.0001	0.0004	0.0003	0.0006	0	0.0002	0	0	0	0	1.47e-05	0	0	.	.	.	0.224	0.25591	T	0.998	0.73220	D	0.88	0.62516	P	.	.	.	.	0.991522	0.41409	D	0.285	0.10073	N	2.32	0.16640	T	.	.	.	0.199	0.21969	.	.	.	.	.	.	.	0.05079794	0.04867	T	0.022667	0.45580	T	.	.	.	.	0.51469891142	0.51112	0.6826217229310281	0.68201	.	.	0.299932777882	0.10391	T	0.027708	0.20231	T	-0.407889	0.02053	T	-0.442953	0.28477	T	.	.	.	0.886911	0.61435	D	0.039127454	0.05343	0.10066907	0.24077	0.039127454	0.05343	0.10066907	0.24077	-5.902	0.45453	T	.	.	0.091	0.13080	B	.	.	3.358538	0.46356	22.3	0.7332315674579476	0.10286	0.91001	0.52667	D	AEFDBI	0.409572	0.48080	N	.	.	.	.	.	.	0.999999733153597	0.74766	0.615465	0.37627	0	0.573888	0.26702	0	0.658983	0.55881	0	0.567892	0.33627	0	.	.	4.18	2.46	0.29032	3.201000	0.50761	-0.019000	0.12951	-0.285000	0.06363	0.995000	0.38783	0.000000	0.08366	0.848000	0.40082	0.0:0.8086:0.0:0.1914	8.564	0.32688	921	0.19240	RNA recognition motif domain|RNA recognition motif domain|RNA recognition motif domain|RNA recognition motif domain, eukaryote	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2812	729.72	57	chr4	134199956	.	C	T	729.72	.	AC=9;AF=0.281;AN=32;BaseQRankSum=-2.043e+00;DP=1459;ExcessHet=4.7172;FS=120.348;InbreedingCoeff=-0.3900;MLEAC=11;MLEAF=0.344;MQ=60.00;MQRankSum=0.00;QD=1.10;ReadPosRankSum=-2.920e-01;SOR=8.830	GT:AD:DP:GQ:PL	0/1:54,24:78:99:197,0,823	7	0	9	5
chr4	139730437	139730439	CTG	-	exonic	MAML3	.	nonframeshift deletion	MAML3:NM_018717:exon3:c.2308_2310del:p.Q772del,	.	.	0	0	0	225	1	451	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.9762	76395.26	66	chr4	139730430	.	TCTGCTGCTG	TCTGCTG,T	76395.26	.	AC=41,1;AF=0.976,0.024;AN=42;BaseQRankSum=-1.573e+00;DP=1994;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=NaN;MLEAC=41,1;MLEAF=0.976,0.024;MQ=60.00;MQRankSum=0.00;QD=28.49;ReadPosRankSum=0.778;SOR=0.141	GT:AD:DP:GQ:PL	1/2:0,45,51:96:99:4024,2134,1998,1890,0,1847	0	20	0	0
chr4	139730431	139730439	CTGCTGCTG	-	exonic	MAML3	.	nonframeshift deletion	MAML3:NM_018717:exon3:c.2308_2316del:p.Q770_Q772del,	.	.	0	0	0	225	1	451	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001	0	0	0	0	0.0003	0	0	1.94e-05	3	154602	rs760330670	0.0001	0.0002	0.0001	0.0001	0.0001	9.839e-05	9.263e-05	0.0001	0.0001	0.0001	0	0	0	0	0	0.0001	5.542e-05	4.047e-05	0.0001	0.0001	0.0002	0.0001	0.0002	9.181e-05	7.731e-05	0.0001	0.0001	0.0001	0	0	0	0	0	0	0.0002	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.9762	76395.26	66	chr4	139730430	.	TCTGCTGCTG	TCTGCTG,T	76395.26	.	AC=41,1;AF=0.976,0.024;AN=42;BaseQRankSum=-1.573e+00;DP=1994;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=NaN;MLEAC=41,1;MLEAF=0.976,0.024;MQ=60.00;MQRankSum=0.00;QD=28.49;ReadPosRankSum=0.778;SOR=0.141	GT:AD:DP:GQ:PL	1/2:0,45,51:96:99:4024,2134,1998,1890,0,1847	0	20	0	0
chr4	140563137	140563137	C	G	exonic	UCP1	.	nonsynonymous SNV	UCP1:NM_021833:exon4:c.G601C:p.A201P,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.21	T	0.949	P	0.761	P	0.009	N	1.000	N	2.97	M	-1.23	T	-0.477	T	0.493	T	0.582	1.307	10.28	0.338	-0.014	1.889	3.693	0.377	0.0293953235492	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.759e-05	0.0002	3.296e-05	2.218e-05	3.267e-05	2.08e-05	1.831e-05	2.392e-05	2.122e-05	3.018e-05	0	0	0	0	0	3.267e-05	1.667e-05	2.335e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.176	0.22312	T	0.203	0.27325	T	0.949	0.53761	P	0.761	0.56482	P	0.008935	0.30598	N	0.367111	1	0.08975	N	3.205	0.89189	M	-1.23	0.78860	T	-2.05	0.47008	N	0.643	0.65501	-0.4766	0.69490	T	0.493	0.80757	T	10	0.76555115	0.76675	D	0.029395	0.51914	D	0.377	0.69527	0.425	0.47021	0.867737003841	0.86645	0.8997779227898309	0.89949	0.733378337434	0.62839	0.275326251984	0.06849	T	0.503659	0.82306	D	0.0583213	0.59402	T	-0.154002	0.58889	T	0.917825281620026	0.57582	D	0.40366	0.10339	T	0.28733265	0.51744	0.26873308	0.52745	0.28733265	0.51744	0.26873308	0.52744	-7.449	0.57250	T	.	.	0.826	0.78531	P	.	.	2.363669	0.30321	18.40	0.99216242249267406	0.55747	0.70984	0.34819	D	AEFBI	0.260905	0.37897	N	-0.150634784784455	0.35206	2.019386	-0.344403961495631	0.26682	1.475416	0.680793574183654	0.22476	0.615465	0.37627	0	0.547309	0.14657	0	0.658983	0.55881	0	0.542086	0.14980	0	.	.	5.22	0.338	0.15214	1.750000	0.37956	-0.150000	0.11428	-0.176000	0.10722	0.930000	0.32276	0.000000	0.08366	0.270000	0.23768	0.1804:0.289:0.0:0.5306	3.693	0.07887	940	0.13648	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.4762	8657.43	102	chr4	140563137	.	C	G	8657.43	.	AC=20;AF=0.476;AN=42;BaseQRankSum=-2.013e+00;DP=2157;ExcessHet=43.6797;FS=230.561;InbreedingCoeff=-0.9091;MLEAC=20;MLEAF=0.476;MQ=60.00;MQRankSum=0.00;QD=4.52;ReadPosRankSum=-6.060e-01;SOR=13.068	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:61,27:88:99:.:.:276,0,1976	1	0	20	0
chr4	140563138	140563138	C	G	exonic	UCP1	.	nonsynonymous SNV	UCP1:NM_021833:exon4:c.G600C:p.E200D,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.59	T	0.004	B	0.007	B	0.003	N	1.000	N	0.365	N	-1.27	T	-1.011	T	0.158	T	0.095	-1.272	0.044	-1.38	-0.574	-0.505	2.216	0.090	0.0146202776725	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.847e-07	2.052e-06	1.362e-06	0	8.997e-07	0	0	.	.	0	0	0	0	0	0	8.997e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.631	0.05137	T	0.791	0.04181	T	0.004	0.12183	B	0.007	0.12992	B	0.003241	0.35241	N	0.324932	0.999999	0.08975	N	0.56	0.15190	N	-1.27	0.79277	T	-0.52	0.16187	N	0.133	0.12913	-1.0108	0.26666	T	0.158	0.49027	T	10	0.05424103	0.05744	T	0.01462	0.34856	T	0.090	0.26093	0.368	0.37687	0.494433119893	0.49078	0.5936266468194845	0.59292	0.149167586053	0.16817	0.271067947149	0.06281	T	0.121596	0.44467	T	-0.194226	0.21639	T	-0.516769	0.20622	T	0.0746878460049629	0.09294	T	0.60264	0.22576	T	0.06687306	0.14429	0.04191142	0.04870	0.06687306	0.14429	0.04191142	0.04870	-4.395	0.29489	T	.	.	0.106	0.19720	B	.	.	0.547365	0.09157	5.942	0.36715842428115708	0.02377	0.06566	0.12580	N	AEFBI	0.061408	0.11738	N	-1.30471918549485	0.03621	0.1620578	-1.29537821251235	0.04493	0.2120394	0.729658486604041	0.23029	0.554377	0.28877	0	0.547309	0.14657	0	0.602189	0.34648	0	0.542086	0.14980	0	.	.	5.22	-1.38	0.08554	-1.260000	0.02967	-2.964000	0.03187	-0.218000	0.08083	0.004000	0.16614	0.000000	0.08366	0.312000	0.24784	0.2442:0.2523:0.3582:0.1453	2.216	0.03717	940	0.13648	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.4762	8407.43	102	chr4	140563138	.	C	G	8407.43	.	AC=20;AF=0.476;AN=42;BaseQRankSum=-1.724e+00;DP=2172;ExcessHet=43.6797;FS=230.605;InbreedingCoeff=-0.9091;MLEAC=20;MLEAF=0.476;MQ=60.00;MQRankSum=0.00;QD=4.60;ReadPosRankSum=-5.480e-01;SOR=12.975	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:61,18:88:99:.:.:177,0,1993	1	0	20	0
chr4	143697457	143697457	G	0	exonic	FREM3	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.9762	94707.57	120	chr4	143697457	.	G	C,*	94707.57	.	AC=41,1;AF=0.976,0.024;AN=42;DP=2969;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=NaN;MLEAC=41,1;MLEAF=0.976,0.024;MQ=60.00;QD=32.86;SOR=0.935	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,141,0:141:99:.:.:4703,423,0,4703,423,4703	0	20	0	0
chr4	146639314	146639314	-	GGC	exonic	POU4F2	.	nonframeshift insertion	POU4F2:NM_004575:exon1:c.174_175insGGC:p.G68_R69insG,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs772231658	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7619	40559.42	54	chr4	146639305	.	TGGCGGCGGC	TGGCGGCGGCGGC,TGGCGGCGGCGGCGGCGGCGGC,T,TGGCGGCGGCGGCGGCGGC	40559.42	.	AC=30,1,6,1;AF=0.714,0.024,0.143,0.024;AN=42;BaseQRankSum=-1.046e+00;DP=1520;ExcessHet=0.6776;FS=1.031;InbreedingCoeff=-0.1053;MLEAC=30,1,6,1;MLEAF=0.714,0.024,0.143,0.024;MQ=59.99;MQRankSum=0.00;QD=34.88;ReadPosRankSum=-1.680e-01;SOR=0.491	GT:AD:DP:GQ:PL	1/3:0,23,0,23,0:46:99:1799,910,839,1825,921,1914,912,0,1018,1038,1825,921,1914,1018,1914	0	10	4	0
chr4	146639314	146639314	-	GGCGGCGGCGGC	exonic	POU4F2	.	nonframeshift insertion	POU4F2:NM_004575:exon1:c.174_175insGGCGGCGGCGGC:p.G68_R69insGGGG,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7619	40559.42	54	chr4	146639305	.	TGGCGGCGGC	TGGCGGCGGCGGC,TGGCGGCGGCGGCGGCGGCGGC,T,TGGCGGCGGCGGCGGCGGC	40559.42	.	AC=30,1,6,1;AF=0.714,0.024,0.143,0.024;AN=42;BaseQRankSum=-1.046e+00;DP=1520;ExcessHet=0.6776;FS=1.031;InbreedingCoeff=-0.1053;MLEAC=30,1,6,1;MLEAF=0.714,0.024,0.143,0.024;MQ=59.99;MQRankSum=0.00;QD=34.88;ReadPosRankSum=-1.680e-01;SOR=0.491	GT:AD:DP:GQ:PL	1/3:0,23,0,23,0:46:99:1799,910,839,1825,921,1914,912,0,1018,1038,1825,921,1914,1018,1914	0	10	4	0
chr4	146639314	146639314	-	GGCGGCGGC	exonic	POU4F2	.	nonframeshift insertion	POU4F2:NM_004575:exon1:c.174_175insGGCGGCGGC:p.G68_R69insGGG,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7619	40559.42	54	chr4	146639305	.	TGGCGGCGGC	TGGCGGCGGCGGC,TGGCGGCGGCGGCGGCGGCGGC,T,TGGCGGCGGCGGCGGCGGC	40559.42	.	AC=30,1,6,1;AF=0.714,0.024,0.143,0.024;AN=42;BaseQRankSum=-1.046e+00;DP=1520;ExcessHet=0.6776;FS=1.031;InbreedingCoeff=-0.1053;MLEAC=30,1,6,1;MLEAF=0.714,0.024,0.143,0.024;MQ=59.99;MQRankSum=0.00;QD=34.88;ReadPosRankSum=-1.680e-01;SOR=0.491	GT:AD:DP:GQ:PL	1/3:0,23,0,23,0:46:99:1799,910,839,1825,921,1914,912,0,1018,1038,1825,921,1914,1018,1914	0	10	4	0
chr4	151226083	151226083	C	T	exonic	SH3D19	.	nonsynonymous SNV	SH3D19:NM_001378121:exon2:c.G116A:p.R39H	.	.	1197	315	6	4	0	14	0.0217391	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0485224	.	.	.	.	.	.	.	.	0.0024321	376	154602	rs371652018	0.0045	0.0035	0.0041	0.0050	0.2094	0.0044	0.0044	0.2041	0.2019	0.0007	0.0002	0.0007	0.0003	0	0.0089	0.0003	0.0115	0.2094	0.0074	0.0074	0.0039	0.0110	0.2154	0.0070	0.0068	0.2045	0.2001	0.0009	0	0.0002	0.0003	0.0008	9.43e-05	0.0034	0.0004	0.0028	0.2154	.	.	.	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	1.60554e-35	0.81001	P	.	.	.	.	.	.	.	.	.	0.151	0.15469	.	.	.	.	.	.	.	0.0015856624	0.00018	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.680532	0.28920	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.215	0.44397	B	.	.	3.147079	0.42591	21.6	0.94374952466773865	0.24744	0.84785	0.43874	D	AEFGBCI	.	.	.	.	.	.	.	.	.	0.999999999959241	0.74766	0.262962	0.04601	0	0.063388	0.01293	0	0.292756	0.05521	0	0.159066	0.04077	0	0.98146	0.87219	5.92	5.92	0.95557	2.389000	0.44060	2.202000	0.31296	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:1.0:0.0:0.0	18.094	0.89410	449	0.79428	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.119	5138.44	37	chr4	151226083	.	C	T	5138.44	.	AC=5;AF=0.119;AN=42;BaseQRankSum=0.368;DP=1017;ExcessHet=1.1607;FS=0.000;InbreedingCoeff=-0.1351;MLEAC=5;MLEAF=0.119;MQ=60.00;MQRankSum=0.00;QD=11.98;ReadPosRankSum=-1.150e+00;SOR=0.709	GT:AD:DP:GQ:PL	0/1:46,49:95:99:1237,0,1072	16	0	5	0
chr4	152975105	152975105	C	T	exonic	FHDC1	.	nonsynonymous SNV	FHDC1:NM_033393:exon11:c.C1814T:p.S605L	.	.	409	1110	3	0	0	3	0.00134953	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.14	T	0.111	B	0.019	B	0.909	N	1.000	N	1.32	L	1.32	T	-1.012	T	0.022	T	0.022	1.782	11.92	-1.92	-0.033	0.251	1.852	0.028	.	0.0091	0.00938498	0.0039	0.0297	0.0007	0.0002	0	7.859e-05	0.0011	0.0100	0.0035381	547	154602	rs113529553	0.0013	0.0013	0.0012	0.0015	0.0269	0.0013	0.0013	0.0255	0.0249	0.0269	0.0008	0	5.038e-05	0	0.0012	2.788e-05	0.0023	0.0095	0.0076	0.0076	0.0078	0.0074	0.0258	0.0072	0.0071	0.0245	0.0240	0.0258	0	0.0014	0	0.0004	0	0.0034	5.88e-05	0.0033	0.0104	0.385	0.11015	T	0.147	0.32783	T	0.111	0.26235	B	0.019	0.18783	B	0.909486	0.07406	N	1.045190	0.999994	0.08975	N	1.745	0.45235	L	1.32	0.35219	T	-0.8	0.22078	N	0.083	0.05929	-1.0125	0.26133	T	0.022	0.09238	T	10	0.002305895	0.00034	T	.	.	.	0.028	0.06331	.	.	0.149567049428	0.14543	0.21829054750961446	0.21745	0.103562949394	0.11719	0.26503098011	0.05504	T	0.00431	0.03719	T	-0.683218	0.00046	T	-0.734575	0.04122	T	0.0025808515160708	0.00027	T	0.524548	0.17205	T	0.027238326	0.01887	0.02869339	0.01131	0.027238326	0.01887	0.02869339	0.01130	-3.687	0.19127	T	.	.	0.080	0.07937	B	.;.	.;.	0.592235	0.09609	6.381	0.96555025139822359	0.30240	0.19836	0.20814	N	AEFDBCI	0.121380	0.23600	N	-0.882518830915389	0.11258	0.5423457	-0.946638297000928	0.11000	0.5577707	0.993534371747732	0.33253	0.634777	0.41761	0	0.59043	0.45803	0	0.643519	0.47002	0	0.586402	0.36253	0	.	.	5.37	-1.92	0.07203	0.110000	0.15273	-0.520000	0.08695	-0.172000	0.11096	0.000000	0.06391	0.000000	0.08366	0.192000	0.21661	0.2002:0.4328:0.2002:0.1668	1.852	0.02978	871	0.31377	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.04762	1881.11	35	chr4	152975105	.	C	T	1881.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=3.05;DP=859;ExcessHet=0.1072;FS=0.579;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=11.26;ReadPosRankSum=2.34;SOR=0.778	GT:AD:DP:GQ:PL	0/1:57,43:100:99:953,0,1377	19	0	2	0
chr4	163350482	163350482	G	A	exonic	NPY5R	.	nonsynonymous SNV	NPY5R:NM_001317091:exon4:c.G209A:p.R70H	.	.	.	.	.	.	.	.	.	.	.	2337219	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.21	T	0.957	D	0.523	P	0.000	D	0.998	D	1.96	M	1.01	T	-0.943	T	0.136	T	0.164	3.909	19.88	4.48	1.327	2.994	13.528	0.143	0.00506260334773	.	.	0.0002	0	0	0	0.0002	5.995e-05	0.0011	0.0008	0.0001294	20	154602	rs80086880	6.909e-05	6.909e-05	4.356e-05	9.488e-05	0.0008	5.78e-05	5.391e-05	0.0006	0.0006	2.987e-05	2.236e-05	0	2.519e-05	7.488e-05	0.0005	1.529e-05	8.279e-05	0.0008	2.627e-05	2.625e-05	1.285e-05	4.029e-05	0.0006	8.14e-06	5.14e-06	0.0002	9.007e-05	2.407e-05	0	0	0	0	0	0	0	0	0.0006	0.023	0.48186	D	0.233	0.24913	T	0.957	0.54824	D	0.523	0.48316	P	0.000415	0.44736	D	0.096043	0.99839	0.44860	D	2.09	0.57893	M	1.01	0.41058	T	-2.21	0.49684	N	0.107	0.10056	-0.9433	0.42089	T	0.136	0.45145	T	10	0.17855021	0.32945	T	0.005063	0.12815	T	0.143	0.38195	0.729	0.86286	0.777722146878	0.77567	0.2563984150861352	0.25553	0.258236123232	0.28380	0.301701128483	0.10654	T	0.379825	0.74249	T	-0.435895	0.01367	T	-0.488064	0.23594	T	0.125847831202895	0.14993	T	0.845215	0.52386	T	0.101546936	0.23988	0.111050606	0.26784	0.101546936	0.23988	0.111050606	0.26784	-4.844	0.35100	T	.	.	0.081	0.08176	B	.;.;.	.;.;.	3.750856	0.53764	23.4	0.99914270335025446	0.98309	0.94057	0.59983	D	AEFBI	0.427747	0.49156	N	0.366998084505813	0.59643	4.145402	0.377497324532059	0.60181	4.202826	0.999999493227168	0.74766	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	5.35	4.48	0.53973	3.005000	0.49208	7.601000	0.61564	0.676000	0.76740	0.996000	0.39380	1.000000	0.68203	0.998000	0.85391	0.0785:0.0:0.9215:0.0	13.528	0.61061	988	0.01987	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	0	0	0	0	0	0	0	0	0	0	0	0.02381	2574.98	40	chr4	163350482	.	G	A	2574.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.74;DP=1013;ExcessHet=0.0000;FS=1.656;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.92;ReadPosRankSum=2.70;SOR=0.636	GT:AD:DP:GQ:PL	0/1:112,104:216:99:2589,0,2633	20	0	1	0
chr4	176687380	176687380	C	T	exonic	VEGFC	.	nonsynonymous SNV	VEGFC:NM_005429:exon6:c.G952A:p.V318I,	Lymphedema, hereditary, ID, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07	T	0.76	P	0.386	B	0.000	D	1.000	D	2.05	M	.	.	-0.704	T	0.211	T	0.341	4.474	23.9	5.87	2.778	3.535	11.172	0.204	0.00231278425509	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.106	0.37872	T	0.76	0.43524	P	0.386	0.44011	B	0.000018	0.62929	D	0.069095	0.999977	0.53665	D	2.315	0.66250	M	.	.	.	.	.	.	0.182	0.19728	-0.7040	0.60246	T	0.211	0.57174	T	9	0.3161506	0.49038	T	0.002313	0.04452	T	.	.	0.148	0.05138	0.355242300401	0.35136	0.18871810480379678	0.18789	.	.	0.43244600296	0.29543	T	0.269827	0.64205	T	-0.0186083	0.49052	T	-0.264506	0.48373	T	0.80973881483078	0.47028	D	0.80342	0.45053	T	0.052827142	0.09910	0.133227	0.31951	0.052827142	0.09909	0.133227	0.31950	-6.108	0.47174	T	.	.	0.075	0.05404	B	.	.	3.126869	0.42236	21.5	0.99827373430134869	0.90939	0.94310	0.60759	D	AEFDBI	0.541709	0.55775	D	0.489497978566348	0.66476	4.954932	0.559728119406497	0.72076	5.753299	0.999999742895371	0.74766	0.706548	0.73137	0	0.573888	0.26702	0	0.573888	0.23631	0	0.714379	0.83352	0	.	.	5.87	5.87	0.94266	3.592000	0.53740	2.741000	0.34462	0.594000	0.32500	1.000000	0.71638	0.999000	0.35428	1.000000	0.97212	0.0:0.8901:0.0:0.1099	11.172	0.47804	915	0.20917	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1729.98	34	chr4	176687380	.	C	T	1729.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.074e+00;DP=853;ExcessHet=0.0000;FS=3.771;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.31;ReadPosRankSum=-1.980e+00;SOR=0.994	GT:AD:DP:GQ:PL	0/1:83,70:153:99:1744,0,2281	20	0	1	0
chr4	186707187	186707187	G	A	exonic	FAT1	.	nonsynonymous SNV	FAT1:NM_005245:exon2:c.C2641T:p.R881C,	.	.	425	1066	28	3	0	34	0.0156971	.	.	438286	not_provided|FAT1-related_disorder	MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.04	D	0.989	D	0.606	P	0.115	N	1.000	N	2.385	M	0.56	T	-0.852	T	0.212	T	0.255	1.321	10.33	-2.2	-0.204	1.097	3.585	0.167	0.0338106689535	0.0015	0.000998403	0.0017	0.0003	0.0015	0	0	0.0018	0.0033	0.0035	0.0015847	245	154602	rs201450896	0.0015	0.0015	0.0014	0.0017	0.0097	0.0015	0.0015	0.0077	0.0069	0.0002	0.0018	0.0008	2.519e-05	0	0.0097	0.0014	0.0021	0.0044	0.0011	0.0011	0.0011	0.0012	0.0054	0.0010	0.0009	0.0038	0.0032	0.0002	0	0.0010	0.0003	0	0	0.0102	0.0015	0.0043	0.0054	0.009	0.57480	D	0.025	0.56192	D	0.989	0.62824	D	0.606	0.50970	P	0.114532	0.02670	N	1.883110	1	0.08975	N	2.23	0.63091	M	0.56	0.54540	T	-1.87	0.43717	N	0.182	0.22098	-0.8518	0.51844	T	0.212	0.57267	T	10	0.008993685	0.00203	T	0.033811	0.55241	D	0.167	0.42761	.	.	0.243972157842	0.24002	0.3319725439724967	0.33110	0.351578093821	0.36998	0.195696264505	0.00343	T	0.333072	0.70296	T	-0.454046	0.01069	T	-0.424441	0.30566	T	0.0364767739484458	0.03063	T	0.89491	0.63503	D	0.19746956	0.41612	0.12527846	0.30188	0.17900121	0.38948	0.098410204	0.23459	-6.26	0.48405	T	.	.	0.091	0.13221	B	.;.	.;.	2.316829	0.29664	18.19	0.99753863442376001	0.84460	0.19149	0.20547	N	AEFBCI	0.277295	0.39184	N	-0.389765607521063	0.25832	1.405275	-0.657358439277049	0.18031	0.9614473	0.999753829792286	0.42595	0.67177	0.52595	0	0.573888	0.26702	0	0.702456	0.68683	0	0.668105	0.65232	0	.	.	4.6	-2.2	0.06601	1.237000	0.32298	0.309000	0.17063	0.618000	0.50648	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.1191:0.4227:0.3403:0.1179	3.585	0.07518	950	0.11238	Cadherin-like|Cadherin-like;Cadherin-like|Cadherin-like	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.04762	5028.11	121	chr4	186707187	.	G	A	5028.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=3.31;DP=3134;ExcessHet=0.1072;FS=5.722;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=15.33;ReadPosRankSum=1.64;SOR=0.777	GT:AD:DP:GQ:PL	0/1:69,107:176:99:3009,0,1750	19	0	2	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.46	T	0.0	B	0.002	B	.	.	1.000	N	-0.235	N	1.96	T	-1.058	T	0.035	T	0.468	-1.931	0.008	-5.47	-2.822	-1.604	3.145	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	0.09524	1920.92	353	chr5	840546	.	A	G	1920.92	.	AC=4;AF=0.095;AN=42;BaseQRankSum=-1.560e-01;DP=2431;ExcessHet=0.6776;FS=5.180;InbreedingCoeff=-0.1053;MLEAC=4;MLEAF=0.095;MQ=58.12;MQRankSum=-1.789e+01;QD=1.22;ReadPosRankSum=-1.968e+00;SOR=1.411	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:416,34:450:99:0|1:840529_G_C:176,0,16965:840529	17	0	4	0
chr5	1037960	1037960	C	T	exonic	NKD2	.	nonsynonymous SNV	NKD2:NM_033120:exon10:c.C943T:p.R315W,	.	.	425	1060	35	2	0	39	0.0180639	.	.	709550	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0	D	1.0	D	0.998	D	0.000	D	1.000	N	1.87	L	0.77	T	-0.891	T	0.164	T	0.333	1.148	9.677	-0.100	0.068	-0.438	9.954	0.115	.	0.0083	0.00379393	0.0091	0.0024	0.0054	0.0001	0.0018	0.0135	0.0099	0.0051	0.0073673	1139	154602	rs35433301	0.0096	0.0095	0.0095	0.0096	0.0332	0.0094	0.0094	0.0293	0.0278	0.0023	0.0049	0.0433	0.0001	0.0015	0.0332	0.0100	0.0118	0.0041	0.0076	0.0076	0.0076	0.0076	0.0101	0.0073	0.0071	0.0094	0.0092	0.0019	0.0274	0.0086	0.0472	0.0002	0.0022	0.0238	0.0101	0.0095	0.0050	0.001	0.78490	D	0.004	0.74150	D	1.0	0.90584	D	0.998	0.88582	D	0.000030	0.55875	D	0.000000	0.999908	0.19694	N	2.135	0.59519	M	0.77	0.49642	T	-4.62	0.79143	D	0.469	0.50508	-0.8906	0.48881	T	0.164	0.50160	T	10	0.006133914	0.00138	T	.	.	.	0.115	0.32236	.	.	0.457377140028	0.45363	0.2829412715231285	0.28207	0.300538019554	0.32405	0.621095120907	0.55884	T	0.543633	0.84418	D	-0.456211	0.01037	T	-0.42013	0.31060	T	0.0627240683940684	0.07590	T	0.747625	0.36808	T	0.310553	0.53834	0.1938994	0.42984	0.310553	0.53834	0.1938994	0.42983	-5.409	0.41006	T	.	.	0.143	0.31381	B	.	.	2.911736	0.38627	20.8	0.99506249474795516	0.68322	0.08312	0.14257	N	AEFBCI	0.112808	0.22283	N	-0.557253112866003	0.20257	1.066543	-0.81538513277936	0.14123	0.7363064	0.0651303777871885	0.15351	0.653496	0.48692	0	0.588066	0.40923	0	0.596874	0.31795	0	0.562822	0.20929	0	.	.	3.73	-0.0997	0.12960	-0.051000	0.11840	0.646000	0.20366	-0.252000	0.07121	0.000000	0.06391	0.156000	0.23222	0.006000	0.07323	0.5464:0.4536:0.0:0.0	9.954	0.40823	976	0.04745	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.07143	4171.68	35	chr5	1037960	.	C	T	4171.68	.	AC=3;AF=0.071;AN=42;BaseQRankSum=0.517;DP=932;ExcessHet=0.3300;FS=3.783;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=13.77;ReadPosRankSum=0.385;SOR=0.911	GT:AD:DP:GQ:PL	0/1:50,69:119:99:1755,0,1058	18	0	3	0
chr5	1083865	1083865	C	T	exonic	SLC12A7	.	nonsynonymous SNV	SLC12A7:NM_006598:exon8:c.G1009A:p.A337T,	.	.	424	1084	14	0	0	14	0.00641613	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.57	T	0.003	B	0.001	B	0.989	N	1.000	N	1.245	L	-0.02	T	-1.003	T	0.138	T	0.037	0.198	5.069	1.63	0.657	-0.070	3.329	0.040	0.0120447086386	0.0004	0.000599042	0.0005	0.0003	0.0002	0	0	0.0005	0	0.0015	0.0004075	63	154602	rs140054338	0.0004	0.0004	0.0003	0.0004	0.0028	0.0003	0.0003	0.0018	0.0014	0.0001	0.0005	0.0044	2.526e-05	0	0.0028	0.0002	0.0009	0.0014	0.0004	0.0004	0.0004	0.0004	0.0008	0.0003	0.0003	0.0005	0.0004	0.0001	0	0.0008	0.0058	0	0	0.0034	0.0002	0.0019	0.0006	0.575	0.06086	T	0.572	0.08746	T	0.003	0.11197	B	0.001	0.04355	B	0.989428	0.08040	N	0.995188	1	0.08975	N	0.895	0.22405	L	-0.02	0.62918	T	-0.37	0.13226	N	0.099	0.08088	-1.0027	0.29139	T	0.138	0.45508	T	10	0.009790659	0.00220	T	0.012045	0.30251	T	0.040	0.10527	.	.	0.381916209588	0.37799	0.7172251238862917	0.71665	0.299493112566	0.32315	0.50070476532	0.38926	T	0.104547	0.41421	T	-0.600419	0.00145	T	-0.680788	0.06936	T	0.00439147579536579	0.00047	T	0.0336966	0.00222	T	0.02900809	0.02327	0.040754575	0.04476	0.02900809	0.02326	0.040754575	0.04476	-4.967	0.36479	T	.	.	0.074	0.05274	B	.	.	0.608214	0.09765	6.533	0.81511094854553279	0.13721	0.02140	0.06305	N	AEFGBI	0.041504	0.06318	N	-1.15469746675839	0.05703	0.2606895	-1.1844235802697	0.06169	0.2961284	0.902212495718761	0.26121	0.695654	0.57023	0	0.633656	0.55848	0	0.723109	0.80598	0	0.635551	0.53088	0	.	.	3.67	1.63	0.22882	-0.121000	0.10618	-13.249000	0.00470	-0.970000	0.01946	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.0:0.459:0.2063:0.3346	3.329	0.06661	976	0.04745	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.04762	2295.11	33	chr5	1083865	.	C	T	2295.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.06;DP=875;ExcessHet=0.1072;FS=1.104;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=11.83;ReadPosRankSum=-2.350e-01;SOR=0.612	GT:AD:DP:GQ:PL	0/1:47,51:98:99:1160,0,1080	19	0	2	0
chr5	13717389	13717389	C	T	exonic	DNAH5	.	nonsynonymous SNV	DNAH5:NM_001369:exon73:c.G12631A:p.E4211K,	Ciliary dyskinesia, primary, 3, with or without situs inversus	YES	.	.	.	.	.	.	.	.	.	300985	Primary_ciliary_dyskinesia|Primary_ciliary_dyskinesia_3	Human_Phenotype_Ontology:HP:0012265,MONDO:MONDO:0016575,MedGen:C0008780,OMIM:PS244400,Orphanet:244|MONDO:MONDO:0012085,MedGen:C1837618,OMIM:608644,Orphanet:244	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.02	D	1.0	D	0.999	D	0.000	D	1.000	D	3.925	H	2.77	T	-0.627	T	0.142	T	0.925	5.129	32	4.58	1.301	7.798	13.858	0.436	0.0750671609156	.	.	8.283e-06	0	8.688e-05	0	0	0	0	0	1.94e-05	3	154602	rs762673561	2.189e-05	2.189e-05	2.178e-05	2.2e-05	4.472e-05	1.584e-05	1.356e-05	1.83e-05	1.582e-05	0	4.472e-05	0	2.521e-05	0	0	2.608e-05	0	0	6.575e-06	6.568e-06	0	1.346e-05	6.551e-05	0	0	.	.	0	0	6.551e-05	0	0	0	0	0	0	0	0.001	0.78490	D	.	.	.	1.0	0.90584	D	0.999	0.92359	D	0.000003	0.62929	D	0.101878	1	0.81001	D	3.74	0.94936	H	2.77	0.11407	T	-3.89	0.72820	D	0.926	0.93018	-0.6273	0.63685	T	0.142	0.46367	T	10	0.9391374	0.93241	D	0.075067	0.72198	D	0.436	0.74093	0.801	0.92017	0.761866617869	0.75969	0.8710966450372373	0.87075	0.33534197443	0.35541	0.884870409966	0.94606	D	0.427957	0.77726	T	0.128602	0.67224	D	0.122798	0.78418	D	0.996972441673279	0.90488	D	0.994301	0.98122	D	0.93213123	0.94450	0.8975616	0.94803	0.93213123	0.94451	0.8975616	0.94803	-12.754	0.88324	D	0.6823698243470959	0.75891	0.934	0.85360	P	.	.	4.884074	0.80130	27.3	0.99908412351395515	0.97875	0.98002	0.78783	D	AEFDGI	0.910485	0.86846	D	0.902120392630885	0.91863	11.10466	0.789155649470289	0.89028	9.810334	0.999999774027614	0.74766	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.620846	0.47308	0	.	.	5.45	4.58	0.56077	7.905000	0.86479	7.647000	0.63496	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:0.9268:0.0:0.0732	13.858	0.63035	807	0.43470	Dynein heavy chain domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.02381	1772.98	37	chr5	13717389	.	C	T	1772.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.328;DP=855;ExcessHet=0.0000;FS=0.626;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.57;ReadPosRankSum=1.21;SOR=0.768	GT:AD:DP:GQ:PL	0/1:69,72:141:99:1787,0,1667	20	0	1	0
chr5	14397102	14397102	G	A	exonic	TRIO	.	nonsynonymous SNV	TRIO:NM_007118:exon29:c.G4371A:p.M1457I,	Mental retardation, autosomal dominant 44, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.26	T	0.979	D	0.97	D	0.000	D	1.000	D	2.125	M	0.19	T	-0.482	T	0.387	T	0.884	4.715	26.2	5.65	2.824	9.725	20.096	0.445	0.0409430656795	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.368e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.91255	D	0.013	0.63109	D	0.979	0.59044	D	0.97	0.72226	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.245	0.63543	M	0.19	0.60236	T	-3.48	0.69357	D	0.82	0.81559	-0.4822	0.69288	T	0.387	0.74187	T	10	0.7300097	0.74233	D	0.040943	0.59658	D	0.445	0.74727	0.603	0.73466	0.508882987362	0.50527	0.8542333247851932	0.85386	2.03962625952	0.94218	0.903453052044	0.96813	D	0.394776	0.75383	T	0.315296	0.84136	D	0.215124	0.83929	D	0.961490571498871	0.66098	D	0.997445	0.98962	D	0.7682298	0.81942	0.7615341	0.85911	0.7682298	0.81943	0.7615341	0.85912	-11.132	0.80376	D	0.7776095063335766	0.85790	0.993	0.96282	P	.;.;.	.;.;.	4.666563	0.74536	26.2	0.99449286284606386	0.65172	0.97759	0.76927	D	AEFBHCI	0.904397	0.85465	D	0.618858874204644	0.74370	6.120863	0.693219286210317	0.81863	7.627383	1.0	0.98316	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.723	0.93126	0	.	.	5.65	5.65	0.86881	9.914000	0.98694	11.752000	0.95431	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.975000	0.56047	0.0:0.0:1.0:0.0	20.096	0.97848	700	0.57880	Dbl homology (DH) domain|Dbl homology (DH) domain|Dbl homology (DH) domain|Dbl homology (DH) domain;Dbl homology (DH) domain|Dbl homology (DH) domain|Dbl homology (DH) domain|Dbl homology (DH) domain;Dbl homology (DH) domain|Dbl homology (DH) domain|Dbl homology (DH) domain|Dbl homology (DH) domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.07143	92.68	38	chr5	14397102	.	G	A	92.68	.	AC=3;AF=0.071;AN=42;BaseQRankSum=-2.650e+00;DP=917;ExcessHet=0.3300;FS=156.957;InbreedingCoeff=-0.0768;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=0.43;ReadPosRankSum=1.44;SOR=7.864	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:51,15:66:23:.:.:23,0,909	18	0	3	0
chr5	31526196	31526196	G	C	exonic	DROSHA	.	nonsynonymous SNV	DROSHA:NM_013235:exon4:c.C737G:p.S246C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.18	T	0.998	D	0.896	P	0.002	N	0.622	N	0.345	N	1.27	T	-0.778	T	0.161	T	0.355	2.704	15.00	5.01	2.327	4.937	18.348	0.091	0.021355343066	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.841e-07	6.84e-07	1.361e-06	0	.	0	0	.	.	0	0	0	0	1.873e-05	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.114	0.36509	T	0.031	0.70582	D	0.983	0.60381	D	0.431	0.45421	B	0.002478	0.36499	N	0.240977	0.622081	0.30771	N	1.39	0.34934	L	1.27	0.52642	T	-1.65	0.60029	N	0.587	0.60749	-0.7779	0.56420	T	0.161	0.49581	T	10	0.23630837	0.40709	T	0.021355	0.44116	T	0.091	0.26358	0.311	0.28451	0.347992687056	0.34409	0.22275663169640994	0.22190	0.302425210963	0.32575	0.622460842133	0.56077	T	0.207898	0.56768	T	-0.0730544	0.40837	T	-0.342714	0.40037	T	0.871081054210663	0.52098	D	0.856914	0.59406	D	0.14708985	0.33641	0.10399679	0.24967	0.14708985	0.33641	0.10399679	0.24967	-11.186	0.82595	D	.	.	0.094	0.41109	B	.;.;.;.;.	.;.;.;.;.	5.040248	0.83892	28.2	0.97739193215136333	0.35671	0.96934	0.71741	D	AEFGBI	0.497188	0.53181	N	0.366410420585315	0.59611	4.14197	0.439894576547549	0.64072	4.654016	0.999999776750253	0.74766	0.706548	0.73137	0	0.653731	0.59785	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.01	5.01	0.66477	5.243000	0.65217	11.610000	0.93539	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:0.0:1.0:0.0	18.348	0.90272	728	0.54609	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1970.98	37	chr5	31526196	.	G	C	1970.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-7.900e-02;DP=918;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.00;ReadPosRankSum=0.140;SOR=0.676	GT:AD:DP:GQ:PL	0/1:113,84:197:99:1985,0,3031	20	0	1	0
chr5	33448686	33448686	C	A	exonic	TARS1	.	nonsynonymous SNV	TARS1:NM_001258438:exon3:c.C284A:p.A95E	.	.	435	1081	6	0	0	6	0.00276753	.	.	2827684	not_provided|TARS1-related_disorder	MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.01	D	0.991	D	0.924	D	0.000	D	1.000	D	1.875	L	0.9	T	-0.618	T	0.197	T	0.655	3.883	19.73	5.06	1.505	1.363	16.495	0.259	.	0.0075	0.00259585	0.0052	0.0024	0.0022	0	0.0012	0.0082	0.0044	0.0015	0.0055627	860	154602	rs141305584	0.0086	0.0086	0.0088	0.0084	0.0106	0.0084	0.0084	0.0105	0.0104	0.0013	0.0023	0.0020	0	0.0015	0.0014	0.0106	0.0056	0.0011	0.0060	0.0060	0.0065	0.0054	0.0110	0.0056	0.0055	0.0103	0.0101	0.0020	0.0011	0.0024	0.0017	0	0.0013	0.0068	0.0110	0.0047	0.0012	0.001	0.78490	D	0.038	0.83351	D	0.984	0.60733	D	0.924	0.65913	D	0.000001	0.84330	D	0.094242	0.999919	0.81001	D	2.48	0.72069	M	0.9	0.49358	T	-2.81	0.64478	D	0.473	0.66101	-0.6176	0.64088	T	0.197	0.55187	T	10	0.007931799	0.00180	T	.	.	.	0.259	0.57090	.	.	0.629843413301	0.62682	0.8895043868043414	0.88920	0.708483902855	0.61559	0.489626407623	0.37386	T	0.141935	0.47725	T	-0.290506	0.09585	T	-0.172483	0.57216	T	0.0215080306690214	0.00855	T	0.960654	0.85269	D	0.94583714	0.95841	0.9155547	0.96084	0.94583714	0.95841	0.9155547	0.96084	-14.13	0.95378	D	0.43071947520518894	0.51789	0.931	0.93759	P	.;.;.;.;.	.;.;.;.;.	3.548233	0.49866	22.8	0.98770609151442046	0.45971	0.89403	0.49846	D	AEFDBCI	0.311890	0.41749	N	0.189382198052293	0.50690	3.256598	0.146604358279109	0.46964	2.93378	0.999999774766515	0.74766	0.732398	0.92422	0	0.581341	0.33841	0	0.698795	0.65105	0	0.727631	0.95156	0	.	.	5.94	5.06	0.67838	1.414000	0.34344	3.343000	0.37723	0.549000	0.26987	0.752000	0.29155	0.998000	0.33993	0.994000	0.71098	0.1322:0.8678:0.0:0.0	16.495	0.84083	731	0.54177	TGS;TGS;TGS;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	978.98	33	chr5	33448686	.	C	A	978.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.356;DP=799;ExcessHet=0.0000;FS=2.689;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.20;ReadPosRankSum=1.02;SOR=0.458	GT:AD:DP:GQ:PL	0/1:53,43:96:99:993,0,1210	20	0	1	0
chr5	34911629	34911629	C	T	exonic	RAD1	.	nonsynonymous SNV	RAD1:NM_002853:exon4:c.G491A:p.R164H,	.	.	.	.	.	.	.	.	.	.	.	2696018	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.01	D	0.019	B	0.007	B	0.000	N	0.999	D	0.63	N	2.35	T	-1.105	T	0.033	T	0.196	3.238	16.86	4.76	1.397	5.472	14.437	0.088	0.0080840482025	.	.	.	.	.	.	.	.	.	.	1.29e-05	2	154602	rs764156346	9.577e-06	9.577e-06	1.225e-05	6.875e-06	1.169e-05	5.56e-06	4.35e-06	6.52e-06	5.03e-06	0	0	0	0	0	0	1.169e-05	1.656e-05	0	1.315e-05	1.314e-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	0.006	0.61437	D	0.083	0.41405	T	0.019	0.17989	B	0.007	0.12992	B	0.000024	0.55875	N	0.151874	0.998786	0.45440	D	1.37	0.34214	L	2.35	0.16217	T	-2.88	0.60507	D	0.463	0.49965	-1.1046	0.03578	T	0.033	0.14334	T	10	0.23659143	0.40743	T	0.008084	0.21418	T	0.088	0.25558	.	.	0.255270683199	0.25152	0.5746098948242752	0.57389	0.0971038161414	0.10970	0.588239073753	0.51246	T	0.093258	0.39174	T	-0.19766	0.21144	T	-0.521702	0.20123	T	0.784476041793823	0.45332	D	0.874313	0.58483	D	0.45678058	0.64470	0.282886	0.54279	0.45678058	0.64471	0.282886	0.54278	-6.296	0.48690	T	.	.	0.259	0.49950	B	.;.	.;.	3.600276	0.50854	23.0	0.99160794470926572	0.54099	0.89206	0.49532	D	AEFBCI	0.532304	0.55222	D	-0.228601575858741	0.31965	1.797732	-0.0219360057908971	0.38727	2.285746	0.999999779741731	0.74766	0.744818	0.98587	0	0.732433	0.95613	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.63	4.76	0.60189	5.525000	0.66826	4.940000	0.46203	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.9293:0.0:0.0707	14.437	0.66865	515	0.74782	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1097.98	37	chr5	34911629	.	C	T	1097.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.04;DP=802;ExcessHet=0.0000;FS=2.549;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.36;ReadPosRankSum=1.16;SOR=1.002	GT:AD:DP:GQ:PL	0/1:60,46:106:99:1112,0,1443	20	0	1	0
chr5	35646682	35646682	A	G	exonic	SPEF2	.	nonsynonymous SNV	SPEF2:NM_024867:exon5:c.A601G:p.R201G	.	.	436	1032	52	2	0	56	0.0264151	.	.	3185083	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.03	D	0.999	D	0.991	D	0.000	D	1.000	D	1.935	M	3.29	T	-0.972	T	0.104	T	0.772	3.738	18.98	5.76	2.209	4.892	11.533	0.128	.	0.0058	0.00878594	0.0089	0.0011	0.0049	0.0003	0.0018	0.0066	0.0122	0.0331	0.0081694	1263	154602	rs80010329	0.0081	0.0082	0.0073	0.0090	0.0339	0.0080	0.0080	0.0328	0.0324	0.0011	0.0066	0.0021	2.524e-05	0.0020	0.0295	0.0071	0.0077	0.0339	0.0059	0.0059	0.0057	0.0061	0.0312	0.0055	0.0054	0.0272	0.0256	0.0012	0.0033	0.0092	0.0023	0.0008	0.0011	0.0102	0.0075	0.0071	0.0312	0.007	0.61437	D	0.011	0.69154	D	0.999	0.77913	D	0.936	0.79672	D	0.000010	0.62929	D	0.106914	0.975574	0.39200	D	2.585	0.75554	M	2.44	0.23082	T	-4.01	0.76576	D	0.669	0.69125	-0.9723	0.36712	T	0.104	0.38144	T	10	0.0059509277	0.00133	T	.	.	.	0.128	0.35103	.	.	0.280181792013	0.27631	0.34883728264109054	0.34797	0.0598001417922	0.06652	0.390581935644	0.23751	T	0.126954	0.67848	T	-0.279306	0.10741	T	-0.149605	0.59278	T	0.0231520665780728	0.01041	T	0.890711	0.64723	D	0.26254478	0.49316	0.36515856	0.61870	0.26254478	0.49316	0.36515856	0.61870	-7.081	0.55796	T	.	.	0.324	0.58942	B	.;.;.;.;.;.	.;.;.;.;.;.	4.926798	0.81191	27.5	0.99854414740950403	0.93368	0.93860	0.59400	D	AEFI	0.746136	0.68860	D	0.686472731394631	0.78746	6.934124	0.683200252497875	0.81105	7.449289	0.988114933324361	0.31422	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.620846	0.47308	0	.	.	5.76	5.76	0.90726	5.017000	0.63813	11.264000	0.91177	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.8504:0.1496:0.0:0.0	11.533	0.49870	581	0.69614	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.09524	5285.9	33	chr5	35646682	.	A	G	5285.9	.	AC=4;AF=0.095;AN=42;BaseQRankSum=0.343;DP=929;ExcessHet=0.0082;FS=0.963;InbreedingCoeff=0.4474;MLEAC=4;MLEAF=0.095;MQ=60.00;MQRankSum=0.00;QD=18.16;ReadPosRankSum=3.29;SOR=0.774	GT:AD:DP:GQ:PL	0/1:49,54:103:99:1343,0,1201	18	1	2	0
chr5	35876347	35876347	C	T	exonic	IL7R	.	nonsynonymous SNV	IL7R:NM_002185:exon8:c.C1241T:p.T414M,	Severe combined immunodeficiency, T-cell negative, B-cell/natural killer cell-positive type, Autosomal recessive	.	0	1425	89	8	0	105	0.035533	.	.	138275	Immunodeficiency_104|not_specified	MONDO:MONDO:0012163,MedGen:C5676890,OMIM:608971|MedGen:CN169374	reviewed_by_expert_panel	Benign	.	.	.	.	.	.	.	.	0.07	T	0.987	D	0.548	P	0.218	N	1.000	N	1.7	L	1.78	T	-1.047	T	0.027	T	0.38	1.110	9.529	-1.06	-0.218	-0.672	3.165	0.111	.	0.0039	0.013778	0.0107	0.0012	0.0020	0.0271	0.0086	0.0056	0.0155	0.0359	0.0098252	1519	154602	rs2229232	0.0071	0.0071	0.0061	0.0082	0.0372	0.0070	0.0069	0.0362	0.0357	0.0017	0.0023	0.0135	0.0358	0.0085	0.0239	0.0037	0.0088	0.0372	0.0059	0.0059	0.0052	0.0066	0.0326	0.0055	0.0054	0.0284	0.0268	0.0010	0.0011	0.0043	0.0147	0.0301	0.0068	0.0102	0.0047	0.0100	0.0326	0.015	0.52492	D	0.031	0.53788	D	0.987	0.61912	D	0.548	0.49136	P	0.217605	0.03431	N	1.447760	1	0.08975	N	1.83	0.48079	L	1.78	0.25678	T	-1.11	0.28703	N	0.047	0.01911	-1.0472	0.15188	T	0.027	0.11663	T	10	0.0026548505	0.00041	T	.	.	.	0.111	0.31313	.	.	.	.	0.4007483538174258	0.39989	0.0171820885831	0.01662	0.229907736182	0.01961	T	0.363134	0.72893	T	-0.511019	0.00495	T	-0.481058	0.24334	T	0.0202699972013287	0.00727	T	0.692831	0.30243	T	0.020204129	0.00571	0.035991907	0.02956	0.024279028	0.01243	0.034701396	0.02585	-5.001	0.36851	T	0.3171601064527724	0.41522	0.087	0.10979	B	.	.	0.676186	0.10444	7.166	0.99348098151366837	0.60452	0.04635	0.10302	N	AEFGBCI	0.066404	0.13002	N	-0.644685924130409	0.17615	0.9079335	-0.840010357948379	0.13527	0.7022545	0.999916113977116	0.45857	0.653281	0.48532	0	0.681609	0.65952	0	0.573888	0.23631	0	0.669	0.65921	0	.	.	5.6	-1.06	0.09491	-0.111000	0.10778	-1.445000	0.05423	-1.021000	0.01731	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.2999:0.3346:0.0:0.3655	3.165	0.06143	645	0.63593	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.04762	3081.11	38	chr5	35876347	.	C	T	3081.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=2.97;DP=1012;ExcessHet=0.1072;FS=8.376;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=11.04;ReadPosRankSum=1.57;SOR=0.423	GT:AD:DP:GQ:PL	0/1:71,77:148:99:1959,0,1670	19	0	2	0
chr5	37605231	37605231	A	G	exonic	WDR70	.	nonsynonymous SNV	WDR70:NM_001345999:exon9:c.A1019G:p.N340S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.19	T	0.993	D	0.823	P	0.000	D	1.000	D	0.085	N	5.05	T	-0.068	T	0.512	D	0.164	3.767	19.13	4.36	0.938	7.175	11.171	0.136	0.0679611442409	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.777e-06	4.104e-06	0	5.592e-06	4.93e-05	6.5e-07	4.4e-07	1.651e-05	9.76e-06	0	0	0	0	0	0	0	0	4.93e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3	0.51248	T	0.169	0.45318	T	0.956	0.65571	P	0.366	0.59197	B	0.000000	0.84330	D	0.000000	0.999985	0.54805	D	-0.06	0.04898	N	5.05	0.86888	T	-1.8	0.43334	N	0.456	0.49328	-0.0684	0.80815	T	0.512	0.81690	D	10	0.3150022	0.48936	T	0.067961	0.70316	D	0.136	0.36778	0.441	0.49648	0.292174397486	0.28832	0.38983816913766306	0.38898	0.348342674058	0.36705	0.622508764267	0.56083	T	0.041915	0.26014	T	0.00638977	0.52532	T	-0.228598	0.51907	T	0.943423748016357	0.61857	D	0.884712	0.60854	D	0.09134641	0.21402	0.061993863	0.12058	0.09134641	0.21402	0.061993863	0.12058	-5.191	0.38850	T	.	.	0.094	0.33504	B	.;.	.;.	3.458602	0.48198	22.6	0.99830556222590283	0.91198	0.99147	0.91920	D	AEI	0.835460	0.75336	D	0.257551704401013	0.54012	3.568059	0.338559426253824	0.57821	3.949417	0.351482451811869	0.19687	0.732398	0.92422	0	0.659464	0.62310	0	0.659464	0.59346	0	0.727631	0.95156	0	.	.	5.51	4.36	0.51643	7.160000	0.77072	6.179000	0.54604	0.691000	0.84096	1.000000	0.71638	1.000000	0.68203	0.991000	0.66497	0.9278:0.0:0.0722:0.0	11.171	0.47800	356	0.85138	WD40-repeat-containing domain;WD40-repeat-containing domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1442.98	38	chr5	37605231	.	A	G	1442.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.174e+00;DP=799;ExcessHet=0.0000;FS=1.823;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.35;ReadPosRankSum=2.04;SOR=0.488	GT:AD:DP:GQ:PL	0/1:33,61:94:99:1457,0,721	20	0	1	0
chr5	38418209	38418209	C	A	exonic	EGFLAM	.	nonsynonymous SNV	EGFLAM:NM_182798:exon7:c.C936A:p.D312E	.	.	431	1068	22	1	0	24	0.0111111	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.19	T	0.998	D	0.962	D	0.000	D	1.000	D	1.755	L	-1.59	D	0.181	D	0.636	D	0.905	4.489	24.1	5.78	2.718	1.707	15.178	0.645	.	0.0012	0.00219649	0.0030	0	0.0018	0	0.0011	0.0021	0.0055	0.0113	0.0027555	426	154602	rs146754357	0.0016	0.0016	0.0013	0.0020	0.0120	0.0016	0.0015	0.0100	0.0098	5.974e-05	0.0013	0.0057	5.038e-05	0.0009	0.0120	0.0009	0.0021	0.0106	0.0016	0.0016	0.0012	0.0021	0.0125	0.0015	0.0014	0.0099	0.0090	0.0001	0	0.0034	0.0055	0.0002	0.0009	0.0068	0.0014	0.0019	0.0125	0.178	0.50132	T	0.01	0.65728	D	0.987	0.73220	D	0.946	0.70672	D	0.000000	0.84330	D	0.000000	0.999999	0.81001	D	1.89	0.50145	L	-1.59	0.82076	D	-1.58	0.38151	N	0.934	0.95608	0.181	0.85585	D	0.636	0.87270	D	10	0.012768745	0.00273	T	.	.	.	0.645	0.86536	0.674	0.81200	0.715032251236	0.71253	0.4969246938967574	0.49613	0.471409030193	0.46407	0.60979115963	0.54286	T	0.192579	0.54778	T	-0.00602708	0.50820	T	0.228954	0.84621	D	0.0328081791101915	0.02440	T	0.776822	0.40920	T	0.20550063	0.42694	0.21532542	0.46116	0.20550063	0.42694	0.21532542	0.46115	-5.949	0.45935	T	.	.	0.545	0.66579	A	.;.;.	.;.;.	2.667700	0.34770	19.72	0.99802575147595984	0.88728	0.93766	0.59130	D	AEFDGBI	0.726788	0.67534	D	0.439899094466457	0.63633	4.600774	0.469198159260859	0.65958	4.890156	0.999999999983834	0.74766	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	5.78	5.78	0.91418	1.749000	0.37946	1.384000	0.26059	0.595000	0.32841	0.999000	0.42656	0.807000	0.27003	0.574000	0.30748	0.0:0.9307:0.0:0.0693	15.178	0.72618	878	0.29785	Laminin G domain;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	2016.98	38	chr5	38418209	.	C	A	2016.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.510e-01;DP=866;ExcessHet=0.0000;FS=3.705;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.37;ReadPosRankSum=-1.101e+00;SOR=1.009	GT:AD:DP:GQ:PL	0/1:82,81:163:99:2031,0,2111	20	0	1	0
chr5	38962920	38962920	G	A	exonic	RICTOR	.	nonsynonymous SNV	RICTOR:NM_001285439:exon17:c.C1522T:p.R508W	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.999	D	0.928	D	0.000	D	1.000	D	2.195	M	0.78	T	-0.607	T	0.253	T	0.741	4.548	24.6	4.78	2.880	2.799	11.772	0.251	0.0256190176955	.	.	8.244e-06	0	0	0	0	1.499e-05	0	0	1.29e-05	2	154602	rs763305312	3.423e-06	3.42e-06	4.087e-06	2.752e-06	2.523e-05	1e-06	7.3e-07	7.2e-07	2e-07	0	0	0	2.523e-05	0	0	2.7e-06	0	1.16e-05	6.579e-06	6.568e-06	1.286e-05	0	1.472e-05	0	0	.	.	0	0	0	0	0	0	0	1.472e-05	0	0	0.004	0.68238	D	0.008	0.67890	D	0.996	0.77913	D	0.777	0.66279	P	0.000000	0.84330	D	0.090092	0.999743	0.50225	D	0.895	0.22405	L	0.78	0.49358	T	-2.43	0.53258	N	0.787	0.80473	-0.6070	0.64528	T	0.253	0.62337	T	10	0.7195091	0.73568	D	0.025619	0.48579	D	0.251	0.56024	0.43	0.47843	0.158540857583	0.15491	0.6955115764410982	0.69492	1.15409774117	0.79310	0.779116392136	0.78794	T	0.396329	0.75499	T	0.0527394	0.58694	T	-0.146534	0.59549	T	0.846880257129669	0.49898	D	0.978602	0.92442	D	0.27717355	0.50776	0.15346147	0.36061	0.27717355	0.50776	0.15346147	0.36060	-6.622	0.51870	T	.	.	0.230	0.46994	B	.;.	.;.	5.562752	0.92150	32	0.99921582688879451	0.98787	0.90110	0.51034	D	AEFDGBI	0.645196	0.62118	D	0.686823933395164	0.78771	6.938772	0.675423547196296	0.80517	7.316381	0.965962863155819	0.28869	0.651	0.46895	0	0.708844	0.79440	0	0.670488	0.60580	0	0.635551	0.53088	0	.	.	5.76	4.78	0.60666	2.809000	0.47669	9.573000	0.81014	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:0.6362:0.3638	11.772	0.51235	226	0.91233	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2141.98	39	chr5	38962920	.	G	A	2141.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.717;DP=885;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.56;ReadPosRankSum=0.343;SOR=0.684	GT:AD:DP:GQ:PL	0/1:67,91:158:99:2156,0,1370	20	0	1	0
chr5	61332332	61332332	-	GGC	exonic	ZSWIM6	.	nonframeshift insertion	ZSWIM6:NM_020928:exon1:c.60_61insGGC:p.G26_S27insG,	Acromelic frontonasal dysostosis, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2619	6329.05	24	chr5	61332326	.	GGGCGGC	GGGCGGCGGC,G	6329.05	.	AC=9,3;AF=0.214,0.071;AN=42;BaseQRankSum=1.13;DP=807;ExcessHet=0.7800;FS=1.515;InbreedingCoeff=0.0667;MLEAC=9,3;MLEAF=0.214,0.071;MQ=60.00;MQRankSum=0.00;QD=21.31;ReadPosRankSum=-9.200e-02;SOR=0.827	GT:AD:DP:GQ:PGT:PID:PL:PS	1/2:0,9,18:27:99:.:.:1105,737,710,371,0,392	11	1	6	0
chr5	75146001	75146001	A	G	exonic	ANKRD31	.	nonsynonymous SNV	ANKRD31:NM_001164443:exon14:c.T3410C:p.I1137T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.64	T	.	.	.	.	.	.	1.000	N	1.61	L	0.06	T	-0.973	T	0.133	T	0.568	0.412	6.238	-2.42	-0.580	-0.566	0.344	0.208	0.0320185438598	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.067e-06	5.908e-05	3.014e-06	3.121e-06	3.869e-06	7.2e-07	4.8e-07	9.1e-07	6.1e-07	0	0	0	0	0	0	3.869e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.075	0.34444	T	0.08	0.76473	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	1.705	0.44259	L	0.06	0.61798	T	0.5	0.02945	N	0.144	0.33904	-0.9725	0.36670	T	0.133	0.44622	T	7	0.07310486	0.11001	T	0.032019	0.53954	D	0.208	0.49714	0.399	0.42753	0.0666544352282	0.05500	0.1179940654002401	0.11726	.	.	0.431646108627	0.29434	T	6.79E-4	0.00299	T	-0.0895452	0.38151	T	-0.366402	0.37308	T	0.0622141301128149	0.07513	T	0.622038	0.23930	T	0.046649564	0.07844	0.065477386	0.13277	0.046649564	0.07844	0.065477386	0.13277	-3.908	0.22423	T	.	.	0.159	0.35204	B	.;.	.;.	-0.613964	0.01534	0.099	0.95776924258942753	0.27794	0.03341	0.08421	N	AEFI	0.072667	0.14510	N	-0.919827703521214	0.10379	0.4956785	-1.06350639893966	0.08427	0.4143377	9.32791732047118E-5	0.04910	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.14	-2.42	0.06164	-1.019000	0.03733	-0.266000	0.10387	-0.113000	0.14837	0.000000	0.06391	0.000000	0.08366	0.627000	0.32078	0.406:0.1456:0.1685:0.28	0.344	0.00315	845	0.36510	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.2381	835.18	74	chr5	75146001	.	A	G	835.18	.	AC=10;AF=0.238;AN=42;BaseQRankSum=-2.826e+00;DP=1745;ExcessHet=6.1002;FS=93.999;InbreedingCoeff=-0.2987;MLEAC=9;MLEAF=0.214;MQ=60.00;MQRankSum=0.00;QD=0.90;ReadPosRankSum=1.04;SOR=11.037	GT:AD:DP:GQ:PL	0/1:102,22:124:48:48,0,2426	11	0	10	0
chr5	79044510	79044510	T	C	exonic	DMGDH	.	nonsynonymous SNV	DMGDH:NM_013391:exon6:c.A788G:p.H263R,	Dimethylglycine dehydrogenase deficiency, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	0.94	P	0.749	P	0.000	D	1.000	D	-0.205	N	-1.44	T	-0.130	T	0.367	T	0.889	4.515	24.3	5.29	2.134	7.877	15.569	0.620	0.0499483824762	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.841e-07	6.84e-07	0	1.375e-06	8.994e-07	0	0	.	.	0	0	0	0	0	0	8.994e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.134	0.26300	T	0.228	0.25286	T	0.648	0.40583	P	0.172	0.35394	B	0.000000	0.84330	D	0.000000	0.999999	0.81001	D	2.175	0.60977	M	-1.44	0.80815	T	-1.42	0.34992	N	0.804	0.79986	-0.1303	0.79394	T	0.367	0.72712	T	10	0.64481616	0.69264	D	0.049948	0.64031	D	0.620	0.85249	0.601	0.73226	0.827341243144	0.82571	0.8269855015519543	0.82656	0.611311684803	0.55774	0.558233141899	0.47018	T	0.028244	0.20504	T	0.334612	0.85475	D	0.24287	0.85283	D	0.968468606472015	0.68253	D	0.921908	0.71628	D	0.86606336	0.88552	0.6559207	0.79854	0.86606336	0.88554	0.6559207	0.79855	-8.651	0.65424	D	0.4151006917709649	0.50477	0.852	0.79850	P	.;.	.;.	3.747857	0.53700	23.4	0.99775390252736462	0.86260	0.99126	0.91608	D	AEFBI	0.956026	0.97429	D	0.228138784264105	0.52565	3.430038	0.367314525288217	0.59556	4.134629	0.999998532021457	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	5.29	5.29	0.74430	7.857000	0.85305	7.860000	0.71395	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:0.0:1.0	15.569	0.76062	624	0.65661	FAD dependent oxidoreductase;FAD dependent oxidoreductase	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.09524	163.69	50	chr5	79044510	.	T	C	163.69	.	AC=4;AF=0.095;AN=42;BaseQRankSum=-3.041e+00;DP=1356;ExcessHet=0.6776;FS=85.976;InbreedingCoeff=-0.1009;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=0.40;ReadPosRankSum=0.743;SOR=8.349	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:106,18:124:74:.:.:74,0,3966	17	0	4	0
chr5	79730000	79730000	C	T	exonic	CMYA5	.	nonsynonymous SNV	CMYA5:NM_153610:exon2:c.C1235T:p.S412F,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.15	T	0.006	B	0.007	B	0.571	N	1.000	N	0.55	N	1.09	T	-1.020	T	0.059	T	0.075	2.175	13.23	-1.31	0.048	-0.139	2.292	0.001	0.0161294178214	.	.	1.658e-05	0.0001	0	0	0	1.501e-05	0	0	1.29e-05	2	154602	rs772038558	1.095e-05	1.094e-05	9.53e-06	1.238e-05	1.259e-05	6.48e-06	5.24e-06	7.31e-06	5.72e-06	0	0	0	0	0	0	1.259e-05	3.313e-05	0	6.568e-06	6.566e-06	1.284e-05	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0.0005	0	0.319	0.13610	T	0.076	0.42614	T	0.006	0.13644	B	0.007	0.12992	B	0.570987	0.05479	N	1.259860	1	0.08975	N	1.04	0.26193	L	1.09	0.39223	T	-1.73	0.41046	N	0.116	0.10483	-1.0204	0.23584	T	0.059	0.24797	T	10	0.04019621	0.02569	T	0.016129	0.37232	T	0.001	0.00016	0.175	0.08135	0.101711395817	0.09552	0.07967573510401661	0.07902	0.302362172283	0.32568	0.250593483448	0.03831	T	0.029756	0.21248	T	-0.371803	0.03504	T	-0.68898	0.06448	T	0.0358302531122786	0.02951	T	0.382662	0.09313	T	0.045922223	0.07598	0.060952608	0.11692	0.045922223	0.07597	0.060952608	0.11692	-3.577	0.17525	T	.	.	0.115	0.23148	B	.	.	0.600059	0.09684	6.456	0.96613463650192977	0.30452	0.00977	0.03727	N	AEFGBI	0.032804	0.03774	N	-1.18671129877187	0.05201	0.2365077	-1.19576137412164	0.05980	0.2865116	0.999373601674378	0.39355	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	5.92	-1.31	0.08749	0.325000	0.19374	-0.206000	0.10898	-0.332000	0.05765	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.1207:0.3614:0.1189:0.399	2.292	0.03887	422	0.81333	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	3470.98	107	chr5	79730000	.	C	T	3470.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.40;DP=1618;ExcessHet=0.0000;FS=2.758;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.67;ReadPosRankSum=1.32;SOR=0.794	GT:AD:DP:GQ:PL	0/1:121,133:254:99:3485,0,2986	20	0	1	0
chr5	79737121	79737121	T	C	exonic	CMYA5	.	nonsynonymous SNV	CMYA5:NM_153610:exon2:c.T8356C:p.F2786L,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09	T	0.307	B	0.06	B	0.477	N	1.000	N	0.895	L	1.34	T	-1.052	T	0.048	T	0.062	0.785	8.138	-1.25	-0.073	0.529	4.559	0.022	0.00429156060246	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.027e-05	0.0012	1.322e-05	7.332e-06	6.329e-05	5.96e-06	4.66e-06	1.048e-05	4.22e-06	6.329e-05	0	0	0	0	0	1.076e-05	0	1.189e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	0.30515	T	0.535	0.09931	T	0.307	0.32716	B	0.06	0.26717	B	0.477143	0.12208	N	0.730444	1	0.08975	N	0.55	0.14455	N	1.34	0.34841	T	-0.47	0.15178	N	0.068	0.04072	-1.0516	0.13954	T	0.048	0.20553	T	10	0.045761734	0.03686	T	0.004292	0.10404	T	0.022	0.04323	0.101	0.01536	0.0611884634855	0.05136	0.02498130375506089	0.02449	0.0683822844331	0.07654	0.305985629559	0.11300	T	0.019747	0.15676	T	-0.330161	0.06099	T	-0.71203	0.05191	T	0.0498282739417066	0.05471	T	0.564244	0.19889	T	0.05796542	0.11602	0.06227273	0.12156	0.05796542	0.11601	0.06227273	0.12155	-3.668	0.18847	T	.	.	0.511	0.65065	A	.	.	0.546264	0.09146	5.931	0.91598307684938896	0.20881	0.01020	0.03837	N	AEFBI	0.024890	0.01614	N	-0.86627449370109	0.11652	0.56346	-0.947118491995255	0.10990	0.5571424	0.997221251754495	0.35393	0.553676	0.25195	0	0.610034	0.51514	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	4.75	-1.25	0.08920	0.156000	0.16200	0.233000	0.16214	0.665000	0.62972	0.000000	0.06391	0.000000	0.08366	0.174000	0.21107	0.0:0.3042:0.3133:0.3826	4.559	0.11546	419	0.81524	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.119	140.72	97	chr5	79737121	.	T	C	140.72	.	AC=5;AF=0.119;AN=42;BaseQRankSum=-3.679e+00;DP=1715;ExcessHet=1.1607;FS=178.575;InbreedingCoeff=-0.1308;MLEAC=4;MLEAF=0.095;MQ=60.00;MQRankSum=0.00;QD=0.30;ReadPosRankSum=1.09;SOR=10.961	GT:AD:DP:GQ:PL	0/1:80,23:103:10:10,0,1626	16	0	5	0
chr5	80654889	80654898	TGCAGCGGCC	0	exonic	MSH3	.	.	.	Endometrial carcinoma, somatic;Familial adenomatous polyposis 4, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.381	2303.18	64	chr5	80654889	.	TGCAGCGGCC	T,*,CGCAGCGGCC	2303.18	.	AC=1,15,1;AF=0.024,0.357,0.024;AN=42;BaseQRankSum=0.767;DP=1593;ExcessHet=2.4516;FS=3.537;InbreedingCoeff=-0.0871;MLEAC=1,15,1;MLEAF=0.024,0.357,0.024;MQ=60.00;MQRankSum=0.00;QD=2.07;ReadPosRankSum=0.503;SOR=0.970	GT:AD:DP:GQ:PL	2/3:0,0,30,6:36:99:1326,1392,1941,122,412,447,1227,1556,0,1515	7	0	1	0
chr5	81330515	81330515	C	G	exonic	ACOT12	.	nonsynonymous SNV	ACOT12:NM_130767:exon15:c.G1547C:p.S516T,	.	.	428	1078	16	0	0	16	0.00736648	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.136	B	0.129	B	0.000	D	1.000	D	2.14	M	2.48	T	-1.143	T	0.038	T	0.119	2.397	13.97	5.58	2.797	3.438	15.434	0.102	.	0.0041	0.00379393	0.0022	0.0110	0.0018	0	0	0.0016	0.0044	0.0010	0.0020763	321	154602	rs148630854	0.0012	0.0012	0.0012	0.0012	0.0114	0.0012	0.0011	0.0104	0.0101	0.0114	0.0019	0.0145	0	1.872e-05	0.0080	0.0006	0.0030	0.0009	0.0043	0.0043	0.0044	0.0042	0.0113	0.0040	0.0039	0.0105	0.0101	0.0113	0	0.0039	0.0130	0	0	0	0.0008	0.0090	0.0021	0.024	0.47745	D	0.043	0.49942	D	0.136	0.27347	B	0.129	0.32841	B	0.000018	0.62929	D	0.148152	0.648529	0.32942	D	2.675	0.78361	M	2.48	0.14657	T	-1.31	0.32791	N	0.213	0.23758	-1.1433	0.01240	T	0.038	0.16419	T	10	0.00680092	0.00154	T	.	.	.	0.102	0.29158	.	.	0.33085137897	0.32697	0.43767070057906926	0.43684	0.247984735004	0.27358	0.432376146317	0.29534	T	0.085926	0.37610	T	-0.596935	0.00152	T	-0.619844	0.11197	T	0.0378172540737556	0.03299	T	0.552145	0.19060	T	0.08670919	0.20165	0.13169524	0.31617	0.08670919	0.20165	0.13169524	0.31616	-5.293	0.39874	T	.	.	0.097	0.15832	B	.	.	3.284550	0.45021	22.0	0.9780024171918299	0.36058	0.88285	0.48144	D	AEFI	0.710842	0.66447	D	0.144560799799679	0.48554	3.066328	0.253707566329056	0.52860	3.45814	0.996932734919856	0.35130	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	5.58	5.58	0.84361	2.651000	0.46338	4.029000	0.41321	-0.176000	0.10722	1.000000	0.71638	1.000000	0.68203	0.184000	0.21420	0.0:1.0:0.0:0.0	15.434	0.74858	689	0.59000	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1246.98	33	chr5	81330515	.	C	G	1246.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.36;DP=811;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.86;ReadPosRankSum=0.751;SOR=0.746	GT:AD:DP:GQ:PL	0/1:49,48:97:99:1261,0,1142	20	0	1	0
chr5	103190857	103190857	C	T	exonic	PPIP5K2	.	nonsynonymous SNV	PPIP5K2:NM_001345875:exon26:c.C3011T:p.S1004F	.	.	447	1071	3	1	0	5	0.00232883	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09	T	0.533	P	0.276	B	0.000	D	1.000	D	1.965	M	2.34	T	-1.039	T	0.109	T	0.946	3.672	18.66	5.85	2.753	7.021	20.165	0.347	0.0402384967723	.	.	8.338e-06	0	0	0	0	1.512e-05	0	0	6.5e-06	1	154602	rs781942250	2.773e-06	6.84e-06	2.757e-06	2.788e-06	0.0005	6.5e-07	4.4e-07	0.0001	7.649e-05	0	0	0	0	0	0.0005	0	1.681e-05	0	6.594e-06	6.571e-06	0	1.351e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.075	0.78490	T	0.083	0.64786	T	0.48	0.37766	P	0.276	0.40142	B	0.000000	0.84330	D	0.000000	0.999999	0.58761	D	.	.	.	2.34	0.28189	T	-2.42	0.75776	N	0.92	0.93370	-1.0393	0.17526	T	0.109	0.39486	T	10	0.46723157	0.59645	T	0.040238	0.59263	D	0.347	0.66863	0.415	0.45380	0.490976584422	0.48732	0.6687709266361084	0.66815	0.15123232868	0.17072	0.825910449028	0.85936	D	0.201714	0.55968	T	0.259077	0.79441	D	0.134369	0.79175	D	0.904324591159821	0.55776	D	0.976302	0.91743	D	0.41220927	0.61569	0.4534818	0.68216	0.41220927	0.61570	0.4534818	0.68216	-6.606	0.51099	T	.	.	0.985	0.93326	P	.;.;.;.;.;.	.;.;.;.;.;.	4.612422	0.73162	25.9	0.99307447716392538	0.58869	0.98014	0.78880	D	AEFBI	0.815798	0.73769	D	0.451069219463621	0.64264	4.677032	0.563991515497895	0.72378	5.800163	0.999999999579552	0.74766	0.732398	0.92422	0	0.709663	0.81188	0	0.659464	0.59346	0	0.727631	0.95156	0	.	.	5.85	5.85	0.93663	7.081000	0.76522	7.649000	0.63599	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:1.0:0.0:0.0	20.165	0.98148	958	0.09170	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1153.98	39	chr5	103190857	.	C	T	1153.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.792;DP=809;ExcessHet=0.0000;FS=1.582;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.31;ReadPosRankSum=-5.930e-01;SOR=0.868	GT:AD:DP:GQ:PL	0/1:52,50:102:99:1168,0,1187	20	0	1	0
chr5	111106140	111106140	G	A	exonic	WDR36	.	nonsynonymous SNV	WDR36:NM_139281:exon11:c.G1177A:p.A393T,	Glaucoma 1, open angle, G	.	3	1469	49	1	0	51	0.0170626	.	.	16621	not_provided|Glaucoma_1,_open_angle,_G|Usher_syndrome_type_2C|WDR36-related_disorder	MedGen:C3661900|MedGen:C1835933,OMIM:609887|MONDO:MONDO:0011558,MedGen:C2931213,OMIM:605472,Orphanet:231178,Orphanet:886|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0	D	0.717	P	0.162	B	0.000	D	0.996	A	1.245	L	0.31	T	-0.532	T	0.134	T	0.793	3.677	18.69	4.81	2.698	2.176	11.193	0.257	.	0.0035	0.0103834	0.0085	0.0009	0.0024	0	0.0008	0.0049	0.0077	0.0396	0.0077877	1204	154602	rs35703638	0.0063	0.0063	0.0052	0.0074	0.0396	0.0062	0.0061	0.0384	0.0380	0.0009	0.0021	0.0185	2.529e-05	0.0010	0.0190	0.0041	0.0072	0.0396	0.0046	0.0046	0.0040	0.0052	0.0421	0.0043	0.0042	0.0374	0.0355	0.0007	0	0.0040	0.0191	0.0004	0.0008	0.0068	0.0045	0.0071	0.0421	.	.	.	0.172	0.31427	T	0.717	0.42239	P	0.162	0.34839	B	0.000000	0.84330	D	0.053679	0.981453	0.42740	A	1.065	0.27018	L	-0.22	0.66474	T	-1.01	0.26639	N	0.225	0.25253	-0.5319	0.67469	T	0.134	0.44700	T	9	0.0058906674	0.00132	T	.	.	.	0.257	0.56827	.	.	0.918932208345	0.91811	0.3555309418206018	0.35467	0.0296278266116	0.03046	0.437898874283	0.30291	T	0.111246	0.42658	T	-0.192804	0.21846	T	-0.0204496	0.68999	D	0.00514807261636098	0.00056	T	0.850115	0.53348	D	0.521217	0.68329	0.3595118	0.61409	0.5670011	0.70896	0.32784036	0.58677	-5.778	0.44382	T	0.15303880024046368	0.18173	0.116	0.26978	B	.;.;.	.;.;.	3.060918	0.41109	21.3	0.99769962277605184	0.85834	0.92968	0.56993	D	AEFBI	0.222266	0.34678	N	0.266451796840912	0.54457	3.611202	0.373573685898376	0.59941	4.176374	0.998851764279735	0.37823	0.732398	0.92422	0	0.724815	0.89359	0	0.724815	0.87919	0	0.727631	0.95156	0	.	.	5.73	4.81	0.61401	2.251000	0.42840	7.308000	0.58115	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:0.743:0.257	11.193	0.47921	893	0.26510	WD40-repeat-containing domain;WD40-repeat-containing domain;WD40-repeat-containing domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.04762	1807.11	39	chr5	111106140	.	G	A	1807.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.83;DP=880;ExcessHet=0.1072;FS=0.506;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=8.25;ReadPosRankSum=1.75;SOR=0.736	GT:AD:DP:GQ:PL	0/1:74,49:123:99:1079,0,1685	19	0	2	0
chr5	112775733	112775733	A	G	exonic	APC	.	nonsynonymous SNV	APC:NM_001127511:exon4:c.A557G:p.E186G	Adenoma, periampullary, somatic (3);Adenomatous polyposis coli, Autosomal dominant;Brain tumor-polyposis syndrome 2, Autosomal dominant;Colorectal cancer, somatic;Desmoid disease, hereditary, Autosomal dominant;Gardner syndrome, Autosomal dominant;Gastric cancer, somatic;Hepatoblastoma, somatic	YES	31	1489	2	0	0	2	0.000671141	.	.	1408280	Familial_adenomatous_polyposis_1	MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0	D	0.374	B	0.352	B	0.000	D	1.000	D	1.525	L	-3.02	D	0.525	D	0.729	D	0.905	3.884	19.74	5.3	1.992	6.777	15.251	0.740	0.150943881997	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	2.054e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.037	0.45039	D	0.237	0.35840	T	0.374	0.34192	B	0.352	0.42883	B	0.000000	0.84330	D	0.000000	0.999986	0.54805	D	1.385	0.34509	L	-3.02	0.92258	D	-3.52	0.68412	D	0.904	0.90476	0.525	0.90892	D	0.729	0.90719	D	10	0.6953932	0.72111	D	0.150944	0.83256	D	0.740	0.90982	0.328	0.31196	0.985861375872	0.98571	0.3421506880022589	0.34128	.	.	0.873024344444	0.92998	D	0.811365	0.95289	D	0.421797	0.91115	D	0.368106	0.91005	D	0.980249404907227	0.73256	D	0.865313	0.71304	D	0.23598197	0.46442	0.32212853	0.58155	0.23598197	0.46442	0.32212853	0.58154	-2.99	0.10073	T	.	.	0.464	0.62874	A	.;.;.;.	.;.;.;.	4.314041	0.65970	24.9	0.99808475275541675	0.89264	0.98159	0.80110	D	AEFGBI	0.718096	0.66940	D	0.288039189423002	0.55541	3.718202	0.3999960479718	0.61564	4.358365	0.99999999999748	0.74766	0.732398	0.92422	0	0.708844	0.79440	0	0.658983	0.55881	0	0.727631	0.95156	0	.	.	5.3	5.3	0.74745	6.799000	0.74947	11.174000	0.88071	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	1.0:0.0:0.0:0.0	15.251	0.73241	678	0.60190	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.02381	857.98	52	chr5	112775733	.	A	G	857.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-8.680e-01;DP=966;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.67;ReadPosRankSum=-1.130e-01;SOR=0.617	GT:AD:DP:GQ:PL	0/1:57,42:99:99:872,0,1358	20	0	1	0
chr5	113488342	113488342	-	GCC	exonic	MCC	.	nonframeshift insertion	MCC:NM_001085377:exon1:c.72_73insGGC:p.S24_S25insG,	Colorectal cancer, somatic	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0016	0.0051	0.0015	0.0020	0	0.0005	0.0020	0.0044	0.0021345	330	154602	rs775732898	0.0008	0.0011	0.0009	0.0008	0.0099	0.0008	0.0008	0.0089	0.0085	0.0099	0.0024	0.0002	9.69e-05	0.0001	0.0026	0.0006	0.0016	0.0006	0.0034	0.0034	0.0034	0.0034	0.0095	0.0032	0.0031	0.0087	0.0084	0.0095	0	0.0045	0	0.0006	9.529e-05	0.0103	0.0006	0.0043	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6667	55421.17	118	chr5	113488342	.	T	C,TGCTGCTGCC,TGCC	55421.17	.	AC=27,7,1;AF=0.643,0.167,0.024;AN=42;BaseQRankSum=-1.446e+00;DP=2966;ExcessHet=2.5830;FS=1.369;InbreedingCoeff=-0.2000;MLEAC=27,7,1;MLEAF=0.643,0.167,0.024;MQ=60.00;MQRankSum=0.00;QD=21.98;ReadPosRankSum=-1.100e-02;SOR=0.803	GT:AD:DP:GQ:PL	1/2:0,62,33,0:95:99:2747,1341,2340,1530,0,2382,2973,1992,2166,3934	0	7	7	0
chr5	113488351	113488351	-	GCCGCTGCC	exonic	MCC	.	nonframeshift insertion	MCC:NM_001085377:exon1:c.63_64insGGCAGCGGC:p.G21_S22insGSG,	Colorectal cancer, somatic	.	0	73	103	46	4	199	0.571848	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3783	.	0.0057	0	0	0.0032	0	0.0008	0	0.0260	0.0009989	26	26028	rs531679771	0.0043	0.0048	0.0037	0.0049	0.0326	0.0042	0.0042	0.0314	0.0310	0.0004	0.0013	0.0091	0.0236	0.0006	0.0039	0.0021	0.0049	0.0326	0.0037	0.0038	0.0029	0.0045	0.0508	0.0035	0.0034	0.0456	0.0436	0.0008	0	0.0018	0.0098	0.0124	0.0004	0	0.0022	0.0048	0.0508	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5476	37732.13	76	chr5	113488351	.	T	TGCC,TGCCGCTGCC	37732.13	.	AC=22,1;AF=0.524,0.024;AN=42;BaseQRankSum=0.319;DP=2449;ExcessHet=5.5923;FS=0.563;InbreedingCoeff=-0.2494;MLEAC=22,1;MLEAF=0.524,0.024;MQ=60.00;MQRankSum=0.00;QD=25.19;ReadPosRankSum=0.315;SOR=0.655	GT:AD:DP:GQ:PL	0/1:36,36,0:72:99:1458,0,2143,1456,1558,3963	3	5	12	0
chr5	128288437	128288437	C	T	splicing	FBN2	NM_001999:exon53:c.6757+1G>A	.	.	Contractural arachnodactyly, congenital, Autosomal dominant;Macular degeneration, early-onset, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	2672326	not_provided	MedGen:CN517202	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.000	D	.	.	.	.	.	.	.	.	.	4.638	25.4	4.86	2.698	7.609	18.546	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.462192	0.93022	D	0.426131	0.92935	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.	.;.;.	5.706657	0.93146	33	0.9956273049014901	0.71892	0.99610	0.97961	D	AEFBI	.	.	.	1.14852595648222	0.98936	19.94604	0.987184040390611	0.98363	18.07802	0.999999999969448	0.74766	0.163922	0.03765	0	0.063388	0.01293	0	0.175069	0.04249	0	0.24341	0.04801	0	0.987168	0.95559	4.86	4.86	0.62624	7.905000	0.86479	7.672000	0.64834	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.934000	0.47231	0.0:1.0:0.0:0.0	18.546	0.90998	733	0.53988	.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.15	998.3	81	chr5	128288437	.	C	T,G	998.3	.	AC=2,4;AF=0.050,0.100;AN=40;BaseQRankSum=-2.166e+00;DP=1550;ExcessHet=1.7912;FS=154.586;InbreedingCoeff=-0.2036;MLEAC=2,4;MLEAF=0.050,0.100;MQ=60.00;MQRankSum=0.00;QD=1.63;ReadPosRankSum=1.36;SOR=9.811	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:94,0,26:120:99:0|1:128288437_C_G:350,629,4053,0,3424,3349:128288437	14	0	2	1
chr5	128288437	128288437	C	G	splicing	FBN2	NM_001999:exon53:c.6757+1G>C	.	.	Contractural arachnodactyly, congenital, Autosomal dominant;Macular degeneration, early-onset, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.000	D	.	.	.	.	.	.	.	.	.	4.514	24.3	4.86	2.698	7.609	18.546	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.849e-07	1.3e-05	1.363e-06	0	.	0	0	.	.	0	0	3.828e-05	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.452291	0.92585	D	0.411908	0.92493	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.	.;.;.	5.587977	0.92356	32	0.99542283063003867	0.70586	0.99662	0.98450	D	AEFBI	.	.	.	1.14852595648222	0.98936	19.94604	0.987184040390611	0.98363	18.07802	0.999999999969448	0.74766	0.163922	0.03765	0	0.063388	0.01293	0	0.175069	0.04249	0	0.24341	0.04801	0	0.987168	0.95559	4.86	4.86	0.62624	7.905000	0.86479	7.672000	0.64834	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.934000	0.47231	0.0:1.0:0.0:0.0	18.546	0.90998	733	0.53988	.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.15	998.3	81	chr5	128288437	.	C	T,G	998.3	.	AC=2,4;AF=0.050,0.100;AN=40;BaseQRankSum=-2.166e+00;DP=1550;ExcessHet=1.7912;FS=154.586;InbreedingCoeff=-0.2036;MLEAC=2,4;MLEAF=0.050,0.100;MQ=60.00;MQRankSum=0.00;QD=1.63;ReadPosRankSum=1.36;SOR=9.811	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:94,0,26:120:99:0|1:128288437_C_G:350,629,4053,0,3424,3349:128288437	14	0	2	1
chr5	128288438	128288438	C	G	exonic	FBN2	.	nonsynonymous SNV	FBN2:NM_001999:exon53:c.G6757C:p.D2253H,	Contractural arachnodactyly, congenital, Autosomal dominant;Macular degeneration, early-onset, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	D	0.999	D	0.695	N	1.000	D	3.32	M	-5.39	D	1.101	D	0.983	D	0.927	4.525	24.4	4.86	2.698	7.609	18.546	0.879	0.430626382782	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	.	.	.	1.0	0.90584	D	0.999	0.92359	D	0.694607	0.10146	N	0.852832	1	0.81001	D	3.835	0.95663	H	-5.39	0.99055	D	-5.33	0.84601	D	0.946	0.95374	1.101	0.99694	D	0.983	0.99482	D	9	0.98123467	0.98137	D	0.430626	0.93974	D	0.879	0.96428	0.905	0.97985	0.931387637819	0.93068	0.9248113223682665	0.92458	0.944348631935	0.72353	0.844889104366	0.88841	D	0.843142	0.96360	D	0.584583	0.97082	D	0.601936	0.97034	D	0.999141216278076	0.96328	D	0.989326	0.96464	D	0.6636905	0.76096	0.6756067	0.80952	0.6636905	0.76098	0.6756067	0.80952	-14.719	0.95159	D	.	.	0.995	0.95383	P	.;.;.	.;.;.	6.541209	0.95375	34	0.99491875384234207	0.67516	0.99662	0.98450	D	AEFBI	0.955192	0.97285	D	0.930340387445476	0.93165	11.86249	0.848877612808232	0.92950	11.73124	0.999999999969448	0.74766	0.732398	0.92422	0	0.573888	0.26702	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	4.86	4.86	0.62624	7.905000	0.86479	5.978000	0.52118	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.959000	0.51448	0.0:1.0:0.0:0.0	18.546	0.90998	733	0.53988	EGF-like calcium-binding domain|EGF-like domain|EGF-like calcium-binding domain;EGF-like calcium-binding domain|EGF-like domain|EGF-like calcium-binding domain;EGF-like calcium-binding domain|EGF-like domain|EGF-like calcium-binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.4583	1580.95	81	chr5	128288438	.	C	G	1580.95	.	AC=11;AF=0.458;AN=24;BaseQRankSum=-1.136e+00;DP=1745;ExcessHet=7.7275;FS=212.727;InbreedingCoeff=-0.5735;MLEAC=15;MLEAF=0.625;MQ=60.00;MQRankSum=0.00;QD=1.49;ReadPosRankSum=1.53;SOR=10.054	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:70,26:106:99:.:.:385,0,3240	1	0	11	9
chr5	128288443	128288443	C	T	exonic	FBN2	.	nonsynonymous SNV	FBN2:NM_001999:exon53:c.G6752A:p.C2251Y,	Contractural arachnodactyly, congenital, Autosomal dominant;Macular degeneration, early-onset, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.997	D	0.996	D	0.171	N	1.000	D	3.06	M	-2.76	D	0.409	D	0.906	D	0.995	4.376	23.1	4.86	2.698	7.609	18.546	0.824	0.123461768064	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	.	.	.	0.997	0.70673	D	0.996	0.84481	D	0.171149	0.03111	N	1.846500	0.999999	0.58761	D	3.695	0.94570	H	-2.76	0.90848	D	-7.86	0.96085	D	0.964	0.97535	0.409	0.89235	D	0.906	0.96895	D	10	0.9834906	0.98490	D	0.123462	0.80464	D	0.824	0.94390	0.946	0.99325	0.934085895406	0.93340	0.9903539687419001	0.99030	1.12556060977	0.78443	0.884529829025	0.94562	D	0.926386	0.98721	D	0.498134	0.94243	D	0.477758	0.94166	D	0.998788297176361	0.95158	D	0.972403	0.89999	D	0.7648719	0.81741	0.7838173	0.87263	0.7648719	0.81743	0.7838173	0.87263	-11.076	0.80073	D	0.8184896870235474	0.89198	0.994	0.95199	P	.;.;.	.;.;.	5.178057	0.86807	29.0	0.99745666006938727	0.83852	0.99610	0.97961	D	AEFBI	0.953479	0.96980	D	0.90111024418429	0.91813	11.07861	0.83141225828265	0.91884	11.11993	0.999999999969448	0.74766	0.732398	0.92422	0	0.573888	0.26702	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	4.86	4.86	0.62624	7.905000	0.86479	7.674000	0.64943	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:1.0:0.0:0.0	18.546	0.90998	733	0.53988	EGF-like, conserved site|EGF-like domain|EGF-like calcium-binding domain|EGF-like domain;EGF-like, conserved site|EGF-like domain|EGF-like calcium-binding domain|EGF-like domain;EGF-like, conserved site|EGF-like domain|EGF-like calcium-binding domain|EGF-like domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.07143	873.43	41	chr5	128288443	.	C	T,G	873.43	.	AC=2,1;AF=0.048,0.024;AN=42;BaseQRankSum=-2.547e+00;DP=1487;ExcessHet=0.3300;FS=253.302;InbreedingCoeff=-0.0769;MLEAC=2,1;MLEAF=0.048,0.024;MQ=60.00;MQRankSum=0.00;QD=2.70;ReadPosRankSum=2.60;SOR=8.468	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:95,26,0:121:99:0|1:128288437_C_G:347,0,3362,629,3437,4065:128288437	18	0	2	0
chr5	128288443	128288443	C	G	exonic	FBN2	.	nonsynonymous SNV	FBN2:NM_001999:exon53:c.G6752C:p.C2251S,	Contractural arachnodactyly, congenital, Autosomal dominant;Macular degeneration, early-onset, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.991	D	0.991	D	0.171	N	1.000	D	3.06	M	-2.76	D	0.407	D	0.906	D	0.989	4.535	24.5	4.86	2.698	7.609	18.546	0.817	0.114977268281	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.68238	D	.	.	.	0.991	0.64070	D	0.991	0.79672	D	0.171149	0.03111	N	1.846500	0.999998	0.58761	D	3.35	0.91085	M	-2.76	0.90848	D	-7.23	0.94300	D	0.94	0.94668	0.407	0.89195	D	0.906	0.96872	D	10	0.9754184	0.97290	D	0.114977	0.79401	D	0.817	0.94123	0.906	0.98027	0.933244731319	0.93255	0.9847937345538913	0.98472	0.753181062294	0.63881	0.828525781631	0.86336	D	0.925487	0.98698	D	0.484054	0.93833	D	0.457534	0.93755	D	0.9776571393013	0.71947	D	0.957071	0.83814	D	0.7416861	0.80389	0.7407168	0.84674	0.7416861	0.80390	0.7407168	0.84675	-13.457	0.91158	D	0.8639128091276882	0.92661	0.998	0.97755	P	.;.;.	.;.;.	5.034829	0.83769	28.1	0.99492420662632319	0.67516	0.99662	0.98450	D	AEFBI	0.954903	0.97235	D	0.897885656281263	0.91654	10.99508	0.829146643970687	0.91743	11.04352	0.999999999969448	0.74766	0.732398	0.92422	0	0.573888	0.26702	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	4.86	4.86	0.62624	7.905000	0.86479	7.674000	0.64943	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:1.0:0.0:0.0	18.546	0.90998	733	0.53988	EGF-like, conserved site|EGF-like domain|EGF-like calcium-binding domain|EGF-like domain;EGF-like, conserved site|EGF-like domain|EGF-like calcium-binding domain|EGF-like domain;EGF-like, conserved site|EGF-like domain|EGF-like calcium-binding domain|EGF-like domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	873.43	41	chr5	128288443	.	C	T,G	873.43	.	AC=2,1;AF=0.048,0.024;AN=42;BaseQRankSum=-2.547e+00;DP=1487;ExcessHet=0.3300;FS=253.302;InbreedingCoeff=-0.0769;MLEAC=2,1;MLEAF=0.048,0.024;MQ=60.00;MQRankSum=0.00;QD=2.70;ReadPosRankSum=2.60;SOR=8.468	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:95,26,0:121:99:0|1:128288437_C_G:347,0,3362,629,3437,4065:128288437	18	0	2	0
chr5	138386226	138386226	G	A	exonic	KDM3B	.	nonsynonymous SNV	KDM3B:NM_016604:exon7:c.G985A:p.A329T,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3	T	0.001	B	0.001	B	0.001	N	1.000	D	0.55	N	0.11	T	-1.063	T	0.090	T	0.078	1.522	11.04	3.57	0.639	1.033	2.629	0.091	0.0050907779686	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.21	0.19639	T	0.448	0.13030	T	0.001	0.07471	B	0.001	0.04355	B	0.000815	0.41658	N	0.203233	1	0.81001	D	0.55	0.14455	N	0.11	0.61208	T	-0.27	0.11366	N	0.175	0.18784	-1.0628	0.11069	T	0.090	0.34463	T	10	0.06675702	0.09204	T	0.005091	0.12908	T	0.091	0.26358	0.132	0.03662	0.147330786459	0.14319	0.1916634261127402	0.19084	0.550695722903	0.51928	0.434996545315	0.29892	T	0.010045	0.09105	T	-0.219422	0.18073	T	-0.552961	0.17042	T	0.100532970980296	0.12416	T	0.712529	0.32403	T	0.026300933	0.01671	0.050727747	0.08021	0.026300933	0.01671	0.050727747	0.08020	-3.985	0.23578	T	.	.	0.065	0.01884	B	.	.	2.111299	0.26865	17.27	0.98544586678743984	0.42770	0.79100	0.39133	D	AEFBI	0.192396	0.31955	N	-0.380122664428079	0.26178	1.426746	-0.197696092152855	0.31621	1.79126	0.999871070192208	0.44625	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.635259	0.50027	0	.	.	5.35	3.57	0.40014	0.730000	0.25711	2.928000	0.35601	0.676000	0.76740	0.999000	0.42656	1.000000	0.68203	0.998000	0.85391	0.1636:0.1348:0.5444:0.1572	2.629	0.04638	367	0.84523	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.1	422.21	35	chr5	138386226	.	G	A	422.21	.	AC=4;AF=0.100;AN=40;BaseQRankSum=-5.135e+00;DP=1615;ExcessHet=0.6776;FS=178.999;InbreedingCoeff=-0.1235;MLEAC=4;MLEAF=0.100;MQ=60.00;MQRankSum=0.00;QD=0.76;ReadPosRankSum=1.56;SOR=9.869	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:124,22:146:60:0|1:138386225_T_C:60,0,4312:138386225	16	0	4	1
chr5	139322969	139322969	-	GGACAAGATCGAGGAACTTGATCAAGAAAACGAAGCAGCGTTGGAAAATGGAATTAAAAATGAGGA	splicing	MATR3	NM_001282278:exon14:c.1134+2->GGACAAGATCGAGGAACTTGATCAAGAAAACGAAGCAGCGTTGGAAAATGGAATTAAAAATGAGGA;NM_001194954:exon14:c.2148+2->GGACAAGATCGAGGAACTTGATCAAGAAAACGAAGCAGCGTTGGAAAATGGAATTAAAAATGAGGA;NM_199189:exon15:c.2148+2->GGACAAGATCGAGGAACTTGATCAAGAAAACGAAGCAGCGTTGGAAAATGGAATTAAAAATGAGGA;NM_018834:exon12:c.2148+2->GGACAAGATCGAGGAACTTGATCAAGAAAACGAAGCAGCGTTGGAAAATGGAATTAAAAATGAGGA;NM_001194956:exon11:c.1284+2->GGACAAGATCGAGGAACTTGATCAAGAAAACGAAGCAGCGTTGGAAAATGGAATTAAAAATGAGGA;NM_001194955:exon12:c.2148+2->GGACAAGATCGAGGAACTTGATCAAGAAAACGAAGCAGCGTTGGAAAATGGAATTAAAAATGAGGA	.	.	Amyotrophic lateral sclerosis 21, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	1195984	not_provided	MedGen:C3661900	no_assertion_criteria_provided	Likely_benign	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.57e-05	0	0	0	0	4.684e-05	0	0	.	.	.	.	2.053e-06	2.736e-06	2.723e-06	1.375e-06	1.799e-06	5.5e-07	1.5e-07	3e-07	1.1e-07	0	0	0	0	0	0	1.799e-06	1.656e-05	0	7.235e-05	0.0003	5.143e-05	9.426e-05	0.0004	3.975e-05	3.13e-05	7.296e-05	3.031e-05	0	0	0	0.0003	0	9.441e-05	0.0032	7.356e-05	0.0005	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1845.94	32	chr5	139322969	.	T	TGGACAAGATCGAGGAACTTGATCAAGAAAACGAAGCAGCGTTGGAAAATGGAATTAAAAATGAGGA	1845.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.33;DP=688;ExcessHet=0.0000;FS=11.673;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=27.55;ReadPosRankSum=-1.620e-01;SOR=0.086	GT:AD:DP:GQ:PL	0/1:21,46:67:99:1860,0,753	20	0	1	0
chr5	139325664	139325664	-	ATAGACTATGTGATACCTAAAACA	splicing	MATR3	NM_001282278:exon15:c.1357+2->ATAGACTATGTGATACCTAAAACA;NM_001194954:exon15:c.2371+2->ATAGACTATGTGATACCTAAAACA;NM_199189:exon16:c.2371+2->ATAGACTATGTGATACCTAAAACA;NM_018834:exon13:c.2371+2->ATAGACTATGTGATACCTAAAACA;NM_001194956:exon12:c.1507+2->ATAGACTATGTGATACCTAAAACA;NM_001194955:exon13:c.2371+2->ATAGACTATGTGATACCTAAAACA	.	.	Amyotrophic lateral sclerosis 21, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.74e-06	2.052e-05	5.454e-06	0	2.32e-05	6.4e-07	4.3e-07	3.85e-06	1.44e-06	0	0	0	0	0	0	1.801e-06	0	2.32e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	323.94	38	chr5	139325664	.	T	TATAGACTATGTGATACCTAAAACA	323.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.14;DP=1093;ExcessHet=0.0000;FS=37.314;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=58.97;MQRankSum=-6.308e+00;QD=1.94;ReadPosRankSum=-5.709e+00;SOR=5.186	GT:AD:DP:GQ:PL	0/1:148,19:167:99:338,0,6152	20	0	1	0
chr5	140809487	140809487	C	T	exonic	PCDHA4	.	nonsynonymous SNV	PCDHA4:NM_018907:exon1:c.C2300T:p.T767I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.851	P	0.747	P	0.325	U	1.000	N	2.56	M	2.56	T	-1.104	T	0.070	T	0.135	2.179	13.24	1.83	1.866	1.000	7.176	0.038	0.0106105532058	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.012	0.66756	D	0.851	0.46962	P	0.747	0.55931	P	0.325137	0.14206	U	0.550409	1	0.08975	N	3.45	0.92227	M	2.56	0.13673	T	-3.88	0.72710	D	0.131	0.16028	-1.1043	0.03609	T	0.070	0.28708	T	10	0.13798487	0.26245	T	0.010611	0.27345	T	0.038	0.09825	0.21	0.12781	0.547298545107	0.54385	0.4819830526488957	0.48118	.	.	.	.	.	0.250005	0.62004	T	-0.211909	0.19111	T	-0.542169	0.18084	T	0.909835696220398	0.56487	D	0.824718	0.49813	T	0.15666945	0.35344	0.248551	0.50409	0.15666945	0.35343	0.248551	0.50408	-9.134	0.71504	D	.	.	0.230	0.51600	B	.;.;.;.	.;.;.;.	2.660589	0.34663	19.69	0.99773797120886365	0.86174	0.18346	0.20223	N	AEFBCI	0.117756	0.23054	N	-0.0463086132692053	0.39766	2.350515	-0.156098478083075	0.33176	1.894948	0.0481403187831926	0.14757	0.706298	0.61202	0	0.573888	0.26702	0	0.709663	0.75317	0	0.620846	0.47308	0	.	.	3.83	1.83	0.24279	0.397000	0.20608	.	.	0.599000	0.40250	0.019000	0.19563	0.001000	0.17328	0.985000	0.61073	0.314:0.4679:0.218:0.0	7.176	0.24919	21	0.98493	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1828.98	39	chr5	140809487	.	C	T	1828.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.96;DP=959;ExcessHet=0.0000;FS=6.886;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.02;ReadPosRankSum=-1.630e-01;SOR=1.210	GT:AD:DP:GQ:PL	0/1:93,73:166:99:1843,0,2345	20	0	1	0
chr5	141174729	141174729	G	T	exonic	PCDHB7	.	stopgain	PCDHB7:NM_018940:exon1:c.G1894T:p.E632X,	.	.	12	1500	10	0	0	10	0.00332226	.	.	709673	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0	D	.	.	.	.	.	.	1.000	D	.	.	.	.	.	.	.	.	.	7.208	38	3.98	1.922	4.242	16.106	.	.	0.0061	0.00259585	0.0069	0.0020	0.0052	0.0005	0.0056	0.0103	0.0034	0.0013	0.0061319	948	154602	rs17844473	0.0073	0.0076	0.0074	0.0072	0.0085	0.0072	0.0071	0.0078	0.0077	0.0014	0.0053	0.0209	0.0003	0.0057	0.0085	0.0079	0.0083	0.0018	0.0057	0.0060	0.0059	0.0054	0.0098	0.0054	0.0052	0.0085	0.0080	0.0024	0.0022	0.0098	0.0208	0.0008	0.0038	0.0068	0.0070	0.0071	0.0012	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.02	0.00308	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.292028	0.82322	D	0.652534	0.98317	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerant	High	8.932968	0.98226	39	0.99550681602039437	0.71148	0.98514	0.83591	D	AEFBI	0.098120	0.19778	N	0.919713972218835	0.92692	11.57176	0.721459277842431	0.84008	8.173929	0.999999733101605	0.74766	0.580535	0.33130	0	0.573888	0.26702	0	0.576033	0.28219	0	0.562822	0.20929	0	.	.	3.98	3.98	0.45383	7.516000	0.80673	.	.	0.477000	0.22036	1.000000	0.71638	1.000000	0.68203	0.301000	0.24523	0.0:0.0:1.0:0.0	16.106	0.81034	655	0.62421	Cadherin-like|Cadherin-like	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	2143.11	134	chr5	141174729	.	G	T	2143.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=2.94;DP=2762;ExcessHet=0.1072;FS=0.600;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=55.43;MQRankSum=3.05;QD=5.29;ReadPosRankSum=0.014;SOR=0.622	GT:AD:DP:GQ:PL	0/1:254,69:323:99:1164,0,6747	19	0	2	0
chr5	141183583	141183583	G	C	exonic	PCDHB16	.	nonsynonymous SNV	PCDHB16:NM_020957:exon1:c.G1024C:p.D342H,	.	.	427	1085	9	1	0	11	0.00504356	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.999	D	0.003	N	1.000	D	4.69	H	-0.15	T	0.542	D	0.490	T	0.925	3.345	17.26	4.47	2.025	9.792	17.150	0.633	.	0.0068	0.00259585	0.0068	0.0019	0.0052	0.0005	0.0056	0.0102	0.0033	0.0013	0.0068693	1062	154602	rs61742261	0.0076	0.0076	0.0077	0.0076	0.0083	0.0075	0.0074	0.0081	0.0081	0.0014	0.0055	0.0218	0.0003	0.0062	0.0080	0.0083	0.0086	0.0017	0.0060	0.0060	0.0062	0.0058	0.0106	0.0057	0.0055	0.0093	0.0087	0.0024	0.0022	0.0106	0.0219	0.0008	0.0041	0.0068	0.0074	0.0071	0.0010	.	.	.	0.0	0.92824	D	.	.	.	.	.	.	0.003051	0.35512	N	0.000000	0.999944	0.51968	D	.	.	.	.	.	.	.	.	.	0.893	0.89242	0.542	0.91127	D	0.490	0.80604	T	10	0.01623705	0.00342	T	.	.	.	.	.	.	.	0.676244962836	0.67349	0.4705533006098668	0.46974	.	.	0.486633330584	0.36972	T	.	.	.	0.163144	0.70493	D	0.468534	0.93976	D	0.090607661262689	0.11291	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.836	0.79055	P	.	.	4.451023	0.69188	25.3	0.9943532704229604	0.64472	0.99506	0.96851	D	AEFDBI	0.914647	0.87832	D	0.89568349599403	0.91546	10.93874	0.685616396612004	0.81285	7.491369	0.999999999917951	0.74766	0.656854	0.48797	0	0.588066	0.40923	0	0.67347	0.61138	0	0.567892	0.33627	0	.	.	4.47	4.47	0.53770	9.982000	0.99168	.	.	0.614000	0.49286	1.000000	0.71638	1.000000	0.68203	0.188000	0.21541	0.0:0.0:1.0:0.0	17.150	0.86654	652	0.62785	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	6072.11	100	chr5	141183583	.	G	C	6072.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.980;DP=1380;ExcessHet=0.1072;FS=1.090;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=13.37;ReadPosRankSum=1.01;SOR=0.769	GT:AD:DP:GQ:PL	0/1:142,137:279:99:3733,0,3903	19	0	2	0
chr5	141210717	141210717	T	A	exonic	PCDHB12	.	nonsynonymous SNV	PCDHB12:NM_018932:exon1:c.T1810A:p.Y604N,	.	.	21	1491	10	0	0	10	0.00334225	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.946	P	0.949	D	.	.	0.547	N	4.745	H	-0.02	T	0.362	D	0.527	D	0.529	3.949	20.2	3.25	1.253	6.142	11.580	0.313	.	0.0049	0.00299521	0.0069	0.0023	0.0055	0.0007	0.0058	0.0104	0.0036	0.0011	0.0008085	125	154602	rs17844603	0.0076	0.0076	0.0077	0.0076	0.0088	0.0075	0.0075	0.0081	0.0081	0.0014	0.0057	0.0216	0.0004	0.0063	0.0088	0.0083	0.0086	0.0018	0.0060	0.0060	0.0062	0.0058	0.0107	0.0057	0.0056	0.0094	0.0089	0.0024	0.0022	0.0107	0.0219	0.0010	0.0041	0.0068	0.0074	0.0071	0.0012	0.0	0.91255	D	0.0	0.92824	D	0.946	0.53363	P	0.949	0.68658	D	.	.	.	.	0.547238	0.31364	N	4.565	0.99167	H	-0.02	0.62918	T	-7.42	0.94814	D	0.613	0.64052	0.362	0.88516	D	0.527	0.82428	D	9	0.009377807	0.00212	T	.	.	.	0.313	0.63482	.	.	0.832710290672	0.83112	0.5683152926814415	0.56759	0.948421763614	0.72512	0.601305186749	0.53088	T	0.328904	0.69926	T	-0.265097	0.12308	T	-0.147172	0.59494	T	0.0710917413189032	0.08803	T	0.986401	0.95374	D	0.7740202	0.82290	0.75926334	0.85775	0.7740202	0.82291	0.75926334	0.85776	-14.794	0.96397	D	.	.	0.957	0.87648	P	.;.	.;.	3.260050	0.44579	22.0	0.98886495161570154	0.47930	0.97402	0.74521	D	AEFBI	0.651726	0.62537	D	0.733675385821981	0.81840	7.617346	0.530443262173326	0.70049	5.448296	0.997050152681219	0.35233	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.567892	0.33627	0	.	.	3.25	3.25	0.36363	6.090000	0.71042	.	.	0.480000	0.22105	0.929000	0.32243	0.952000	0.29052	0.866000	0.41154	0.0:0.0:0.0:1.0	11.580	0.50141	692	0.58729	.;Cadherin-like|Cadherin-like	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	3010.11	61	chr5	141210717	.	T	A	3010.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.78;DP=1239;ExcessHet=0.1072;FS=0.501;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=39.94;MQRankSum=-4.670e-01;QD=13.62;ReadPosRankSum=1.39;SOR=0.623	GT:AD:DP:GQ:PL	0/1:64,61:125:99:1552,0,1572	19	0	2	0
chr5	141216121	141216121	C	-	exonic	PCDHB13	.	frameshift deletion	PCDHB13:NM_018933:exon1:c.1998delC:p.S667Pfs*73,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.572e-05	0	8.749e-05	0.0007	0	3.199e-05	0	0.0001	7.76e-05	12	154602	rs782743737	8.716e-05	8.687e-05	7.241e-05	0.0001	0.0004	7.445e-05	6.992e-05	0.0002	0.0002	0	4.474e-05	0	0.0004	0	0.0002	7.286e-05	6.643e-05	0.0003	8.536e-05	8.53e-05	6.424e-05	0.0001	0.0010	4.954e-05	3.96e-05	0.0004	0.0002	0	0	0	0	0.0010	0	0	0.0001	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2529.94	92	chr5	141216120	.	TC	T	2529.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.17;DP=1791;ExcessHet=0.0000;FS=0.565;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=53.10;MQRankSum=-1.270e+00;QD=14.62;ReadPosRankSum=0.589;SOR=0.617	GT:AD:DP:GQ:PL	0/1:97,76:173:99:2544,0,3363	20	0	1	0
chr5	141303079	141303079	C	G	exonic	SLC25A2	.	nonsynonymous SNV	SLC25A2:NM_031947:exon1:c.G787C:p.V263L,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.38	T	0.0	B	0.001	B	0.941	N	1.000	N	-1.57	N	-1.1	T	-1.019	T	0.099	T	0.051	-1.282	0.042	-1.96	-0.413	0.139	0.421	0.146	0.00909780768334	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.611e-06	0.0012	9.648e-06	5.557e-06	9.117e-06	4.08e-06	2.99e-06	4.61e-06	3.36e-06	0	0	3.841e-05	0	0	0	9.117e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.865	0.02639	T	0.669	0.06325	T	0.0	0.02946	B	0.001	0.04355	B	0.940851	0.07593	N	1.028430	0.99999	0.08975	N	-1.395	0.00601	N	-1.1	0.77336	T	0.91	0.01595	N	0.015	0.00181	-1.0189	0.24074	T	0.099	0.36957	T	10	0.04655108	0.03861	T	0.009098	0.23941	T	0.146	0.38789	0.353	0.35246	0.307966526162	0.30417	0.15140888837097558	0.15062	0.179086514007	0.20148	0.295074403286	0.09668	T	0.158211	0.50113	T	-0.262078	0.12658	T	-0.614233	0.11644	T	0.0472256252312583	0.05005	T	0.090191	0.00668	T	0.05519885	0.10696	0.03909303	0.03923	0.05519885	0.10696	0.03909303	0.03923	-0.632	0.00670	T	.	.	0.081	0.08129	B	.	.	0.911050	0.12853	9.367	0.29972271365944797	0.01616	0.36561	0.25561	N	AEFDBI	0.079883	0.16143	N	-1.27563492994376	0.03971	0.1783734	-1.17336112797431	0.06358	0.3057852	0.0027045709993126	0.09647	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	3.79	-1.96	0.07113	0.290000	0.18731	.	.	-0.219000	0.08017	0.857000	0.30561	0.000000	0.08366	0.938000	0.47775	0.1892:0.2274:0.2747:0.3086	0.421	0.00425	508	0.75398	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.4688	11030.59	183	chr5	141303079	.	C	G,T	11030.59	.	AC=13,2;AF=0.406,0.063;AN=32;BaseQRankSum=-5.525e+00;DP=4228;ExcessHet=17.4423;FS=211.915;InbreedingCoeff=-0.7194;MLEAC=15,2;MLEAF=0.469,0.063;MQ=60.00;MQRankSum=0.00;QD=3.63;ReadPosRankSum=0.978;SOR=13.406	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:166,19,7:192:56:.:.:56,0,5748,132,5710,5862	1	0	13	5
chr5	141303079	141303079	C	T	exonic	SLC25A2	.	nonsynonymous SNV	SLC25A2:NM_031947:exon1:c.G787A:p.V263I,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.11	T	0.021	B	0.039	B	0.941	N	1.000	N	0.65	N	-1.23	T	-0.928	T	0.215	T	0.091	-0.151	3.259	-1.96	-0.413	0.139	0.421	0.147	0.0182275345159	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.492	0.07944	T	0.363	0.16815	T	0.021	0.18474	B	0.039	0.23607	B	0.940851	0.07593	N	1.028430	0.999997	0.08975	N	0.5	0.13406	N	-1.23	0.78860	T	0.06	0.06253	N	0.045	0.01740	-0.9283	0.44386	T	0.215	0.57626	T	10	0.071314245	0.10496	T	0.018228	0.40224	T	0.147	0.38986	0.339	0.32979	0.359557344763	0.35564	0.08275398820863436	0.08210	0.147289003395	0.16616	0.28638151288	0.08398	T	0.161028	0.50511	T	-0.18769	0.22597	T	-0.50738	0.21586	T	0.0446509129349204	0.04539	T	0.0730927	0.00533	T	0.038403146	0.05108	0.028814076	0.01154	0.038403146	0.05108	0.028814076	0.01154	-4.133	0.25775	T	.	.	0.080	0.07745	B	.	.	1.381003	0.17922	13.45	0.53492033685486196	0.04950	0.27226	0.23218	N	AEFDBI	0.033857	0.04094	N	-0.96113578187942	0.09444	0.4469869	-0.958533915171557	0.10726	0.542049	0.0027045709993126	0.09647	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	3.79	-1.96	0.07113	0.290000	0.18731	.	.	-0.219000	0.08017	0.857000	0.30561	0.000000	0.08366	0.938000	0.47775	0.1892:0.2274:0.2747:0.3086	0.421	0.00425	508	0.75398	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4688	11030.59	183	chr5	141303079	.	C	G,T	11030.59	.	AC=13,2;AF=0.406,0.063;AN=32;BaseQRankSum=-5.525e+00;DP=4228;ExcessHet=17.4423;FS=211.915;InbreedingCoeff=-0.7194;MLEAC=15,2;MLEAF=0.469,0.063;MQ=60.00;MQRankSum=0.00;QD=3.63;ReadPosRankSum=0.978;SOR=13.406	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:166,19,7:192:56:.:.:56,0,5748,132,5710,5862	1	0	13	5
chr5	141303081	141303081	A	G	exonic	SLC25A2	.	nonsynonymous SNV	SLC25A2:NM_031947:exon1:c.T785C:p.I262T,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08	T	0.031	B	0.072	B	0.002	N	0.665	D	2.66	M	-1.43	T	-0.297	T	0.436	T	0.223	1.515	11.02	1.42	0.324	2.506	6.656	0.304	0.0473896448522	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.057e-05	0.0052	9.083e-05	7.061e-05	9.408e-05	6.666e-05	6.17e-05	7.637e-05	7.056e-05	7.663e-05	2.352e-05	9.167e-05	0	0	0	9.408e-05	0.0001	3.753e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.65419	D	0.012	0.63918	D	0.031	0.20130	B	0.072	0.28043	B	0.002026	0.37411	N	0.228449	0.664955	0.33087	D	2.495	0.72670	M	-1.43	0.80730	T	-3.37	0.66665	D	0.15	0.15328	-0.2969	0.75071	T	0.436	0.77580	T	10	0.32646608	0.49943	T	0.04739	0.62897	D	0.304	0.62510	0.714	0.84962	0.796736975761	0.79484	0.3777484127299112	0.37689	0.256540601776	0.28227	0.559880197048	0.47250	T	0.479583	0.80893	T	-0.0449841	0.45207	T	-0.302393	0.44473	T	0.91609662771225	0.57338	D	0.873613	0.58243	D	0.3416271	0.56408	0.3380717	0.59590	0.3416271	0.56408	0.3380717	0.59589	-5.782	0.44417	T	.	.	0.170	0.37388	B	.	.	3.362138	0.46425	22.3	0.97252123840185223	0.33047	0.90378	0.51506	D	AEFDBI	0.134760	0.25488	N	-0.253584900046592	0.30961	1.73137	-0.254588989580657	0.29613	1.660522	0.0034441891907943	0.10119	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	3.79	1.42	0.21524	2.856000	0.48040	.	.	0.751000	0.87719	0.966000	0.33990	0.265000	0.24010	0.967000	0.53440	0.789:0.0:0.211:0.0	6.656	0.22177	508	0.75398	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.4762	15997.73	187	chr5	141303081	.	A	G	15997.73	.	AC=20;AF=0.476;AN=42;BaseQRankSum=-3.670e+00;DP=4433;ExcessHet=43.6797;FS=223.742;InbreedingCoeff=-0.9170;MLEAC=20;MLEAF=0.476;MQ=60.00;MQRankSum=0.00;QD=3.87;ReadPosRankSum=0.595;SOR=14.013	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:169,26:195:56:.:.:56,0,5917	1	0	20	0
chr5	141346068	141346068	G	A	exonic	PCDHGA3	.	nonsynonymous SNV	PCDHGA3:NM_018916:exon1:c.G2035A:p.E679K	.	.	12	1498	12	0	0	12	0.00398936	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.59	T	0.005	B	0.008	B	0.017	U	1.000	N	1.04	L	0.8	T	-1.094	T	0.005	T	0.045	1.429	10.72	-8.83	-1.320	-0.717	7.207	0.015	.	0.0002	0.0119808	0.0040	0	0.0004	0.0470	0	0.0004	0.0045	0.0021	0.0037268	97	26028	rs201885897	0.0018	0.0018	0.0018	0.0018	0.0536	0.0018	0.0018	0.0517	0.0509	5.975e-05	6.712e-05	0.0007	0.0536	0	0.0004	0.0002	0.0028	0.0022	0.0019	0.0019	0.0016	0.0022	0.0438	0.0017	0.0016	0.0391	0.0373	2.406e-05	0	0.0001	0.0012	0.0438	0	0	0.0004	0.0028	0.0039	0.358	0.11994	T	0.442	0.17217	T	0.005	0.12996	B	0.008	0.13708	B	0.017088	0.01457	U	418.642000	1	0.08975	N	0.6	0.15550	N	0.8	0.48769	T	-1.1	0.28497	N	0.086	0.06322	-1.0937	0.04944	T	0.005	0.01688	T	10	0.0026790798	0.00041	T	.	.	.	0.015	0.02232	.	.	0.369867359543	0.36593	0.6191855353020055	0.61851	0.477986179833	0.46890	.	.	.	0.00485	0.04270	T	-0.711151	0.00031	T	-0.748734	0.03535	T	0.0130645707129822	0.00228	T	0.0732927	0.00563	T	0.030292528	0.02669	0.041555088	0.04748	0.030292528	0.02668	0.041555088	0.04748	-5.203	0.38972	T	.	.	0.068	0.02861	B	.;.	.;.	0.125081	0.05219	1.726	0.88088100932119573	0.17707	0.01231	0.04354	N	AEFBI	0.079480	0.16054	N	-1.58782662025525	0.01326	0.05776808	-1.70497686907486	0.01115	0.05013864	0.976031649841797	0.29688	0.516011	0.20929	0	0.588066	0.40923	0	0.602189	0.34648	0	0.586402	0.36253	0	.	.	4.74	-8.83	0.00696	-0.311000	0.08164	.	.	-0.146000	0.12295	0.000000	0.06391	0.000000	0.08366	0.010000	0.09038	0.1244:0.0981:0.6311:0.1463	7.207	0.25085	725	0.54935	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.04762	4679.11	33	chr5	141346068	.	G	A	4679.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.75;DP=1608;ExcessHet=0.1072;FS=1.303;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=46.36;MQRankSum=0.373;QD=14.18;ReadPosRankSum=-8.900e-01;SOR=0.740	GT:AD:DP:GQ:PL	0/1:61,88:149:99:2370,0,1512	19	0	2	0
chr5	141364882	141364882	C	G	exonic	PCDHGA5	.	nonsynonymous SNV	PCDHGA5:NM_018918:exon1:c.C552G:p.S184R	.	.	195	1323	4	0	0	4	0.00150943	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	T	0.015	B	0.06	B	.	.	1.000	N	2.04	M	0.6	T	-0.924	T	0.118	T	0.183	-0.067	3.675	-4.13	-0.457	-1.588	0.905	0.064	0.0157091119321	0.0010	0.000798722	0.0010	0.0001	0.0002	0	0	0.0012	0.0011	0.0021	0.0010284	159	154602	rs199576947	0.0017	0.0017	0.0016	0.0018	0.0026	0.0016	0.0016	0.0023	0.0022	0.0004	0.0003	0	2.519e-05	0.0001	0.0005	0.0019	0.0020	0.0026	0.0009	0.0009	0.0010	0.0008	0.0031	0.0008	0.0007	0.0019	0.0015	0.0002	0	0.0004	0	0	9.429e-05	0	0.0016	0	0.0031	0.217	0.19157	T	0.19	0.28482	T	0.012	0.17086	B	0.053	0.26717	B	.	.	.	.	1	0.08975	N	1.91	0.51138	L	0.6	0.53731	T	-2.36	0.52128	N	0.075	0.14196	-0.9237	0.45041	T	0.118	0.41538	T	9	0.0066042244	0.00150	T	0.015709	0.36593	T	0.064	0.18567	0.243	0.17677	0.275215494804	0.27121	0.222931317268577	0.22208	0.204618807998	0.22881	.	.	.	0.251078	0.62128	T	-0.544999	0.00313	T	-0.562106	0.16179	T	0.00547458650544286	0.00059	T	0.140186	0.01195	T	0.15662421	0.35335	0.15651007	0.36639	0.15662421	0.35335	0.15651007	0.36638	-5.595	0.42838	T	.	.	0.171	0.37633	B	.;.	.;.	1.424350	0.18417	13.72	0.89483925952948262	0.18836	0.05660	0.11574	N	AEFDBI	0.143892	0.26672	N	-0.983676379017338	0.08952	0.421741	-1.02886134338145	0.09153	0.4538258	0.675691024377415	0.22423	0.549168	0.22868	0	0.573888	0.26702	0	0.578056	0.29568	0	0.616125	0.45549	0	.	.	5.52	-4.13	0.03639	-1.979000	0.01583	.	.	-0.222000	0.07959	0.000000	0.06391	0.000000	0.08366	0.875000	0.41745	0.1739:0.2671:0.214:0.3449	0.905	0.01201	649	0.63102	.;Cadherin-like|Cadherin-like	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1921.98	35	chr5	141364882	.	C	G	1921.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.32;DP=1225;ExcessHet=0.0000;FS=1.201;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.05;ReadPosRankSum=-8.390e-01;SOR=0.593	GT:AD:DP:GQ:PL	0/1:98,76:174:99:1936,0,2411	20	0	1	0
chr5	141400463	141400463	A	G	exonic	PCDHGB5	.	nonsynonymous SNV	PCDHGB5:NM_018925:exon1:c.A2336G:p.D779G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.065e-06	5.274e-05	1.371e-06	2.765e-06	2.718e-06	5.5e-07	1.5e-07	7.2e-07	2e-07	0	0	0	0	0	0	2.718e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.067	0.44302	T	0.009	0.15093	B	0.029	0.21540	B	.	.	.	.	1	0.81001	D	1.51	0.38214	L	.	.	.	.	.	.	0.241	0.34659	.	.	.	.	.	.	.	0.20647642	0.36910	T	.	.	.	.	.	.	.	0.567858160113	0.56450	0.27775437007942005	0.27688	.	.	.	.	.	0.07356	0.34727	T	0.118978	0.66270	D	-0.0668731	0.65849	T	.	.	.	0.475152	0.14192	T	0.18996084	0.40560	0.40470845	0.64891	0.18996084	0.40560	0.40470845	0.64891	-4.16	0.26766	T	.	.	0.089	0.12323	B	.;.	.;.	3.615017	0.51130	23.0	0.70790902653605781	0.09412	0.84947	0.44044	D	AEFDBHCI	.	.	.	.	.	.	.	.	.	0.999600704005591	0.40866	0.090766	0.02384	0	0.097471	0.02872	0	0.129117	0.03641	0	0.023427	0.00073	3	0.343073	0.36021	5.25	5.25	0.73169	2.964000	0.48885	.	.	0.751000	0.87719	1.000000	0.71638	0.999000	0.35428	0.831000	0.39176	0.9146:0.0:0.0854:0.0	9.287	0.36925	809	0.43032	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.3571	4374.45	280	chr5	141400463	.	A	G	4374.45	.	AC=15;AF=0.357;AN=42;BaseQRankSum=-6.509e+00;DP=4902;ExcessHet=17.4423;FS=250.847;InbreedingCoeff=-0.5560;MLEAC=15;MLEAF=0.357;MQ=59.98;MQRankSum=0.00;QD=1.01;ReadPosRankSum=0.940;SOR=14.362	GT:AD:DP:GQ:PL	0/1:251,100:351:99:278,0,4814	6	0	15	0
chr5	141423287	141423289	CCT	-	exonic	PCDHGA11	.	nonframeshift deletion	PCDHGA11:NM_018914:exon1:c.2060_2062del:p.S688del	.	.	9	1477	35	1	0	37	0.0123704	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0086	0.00259585	0.0084	0.0020	0.0038	0	0.0097	0.0107	0.0144	0.0096	0.0012679	33	26028	rs554024395	0.0089	0.0089	0.0087	0.0091	0.0114	0.0088	0.0087	0.0097	0.0095	0.0014	0.0034	0.0320	0	0.0092	0.0114	0.0088	0.0112	0.0103	0.0065	0.0065	0.0064	0.0066	0.0104	0.0062	0.0060	0.0083	0.0081	0.0014	0	0.0020	0.0346	0.0004	0.0096	0.0068	0.0089	0.0095	0.0104	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	4054.94	78	chr5	141423286	.	ACCT	A	4054.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.600e-01;DP=1554;ExcessHet=0.0000;FS=0.468;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.35;ReadPosRankSum=-7.220e-01;SOR=0.641	GT:AD:DP:GQ:PL	0/1:141,107:248:99:4069,0,5598	20	0	1	0
chr5	141945772	141945772	G	A	exonic	PCDH12	.	nonsynonymous SNV	PCDH12:NM_016580:exon4:c.C3164T:p.P1055L,	.	.	.	.	.	.	.	.	.	.	.	1577304	Inborn_genetic_diseases|not_provided	MeSH:D030342,MedGen:C0950123|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.06	T	1.0	D	0.949	D	0.000	D	1.000	D	2.045	M	0.4	T	-0.465	T	0.318	T	0.743	4.834	27.5	5.46	2.572	8.512	16.787	0.300	0.0847171070025	0.0002	.	7.635e-05	0.0003	0	0	0	9.292e-05	0	0	6.47e-05	10	154602	rs140094371	1.848e-05	1.915e-05	2.315e-05	1.376e-05	0.0002	1.265e-05	1.085e-05	9.751e-05	6.951e-05	0.0002	0	0	2.519e-05	1.884e-05	0	1.349e-05	1.657e-05	2.319e-05	1.314e-05	1.313e-05	0	2.689e-05	4.823e-05	2.18e-06	8.2e-07	7.99e-06	2.99e-06	4.823e-05	0	0	0	0	0	0	0	0	0	0.012	0.54683	D	0.0	0.92824	D	1.0	0.90584	D	0.949	0.68658	D	0.000003	0.62929	D	0.061538	1	0.81001	D	2.545	0.74286	M	0.4	0.57261	T	-2.81	0.59389	D	0.463	0.49965	-0.4654	0.69885	T	0.318	0.68709	T	10	0.49248406	0.61074	T	0.084717	0.74385	D	0.300	0.62068	.	.	0.910399253702	0.90949	0.4272998446930275	0.42646	0.736878551072	0.63027	0.635178923607	0.57879	T	0.168293	0.51524	T	0.0133207	0.53478	T	0.0873345	0.76068	D	0.794986426830292	0.46017	D	0.839416	0.51368	T	0.30274686	0.53149	0.36051515	0.61492	0.30274686	0.53149	0.36051515	0.61492	-3.254	0.13151	T	.	.	0.276	0.50988	B	.	.	4.270304	0.64969	24.8	0.99927254214177563	0.99163	0.96379	0.68851	D	AEFDBCI	0.906866	0.86016	D	0.796286935436447	0.85873	8.708077	0.780320748771311	0.88393	9.565328	0.999999999999997	0.74766	0.0	0.00013	3	0.514364	0.08380	0	0.286618	0.05420	3	0.463824	0.07026	1	.	.	5.46	5.46	0.80021	5.690000	0.67904	.	.	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.100000	0.18284	0.0:0.0:1.0:0.0	16.787	0.85440	844	0.36711	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	775.98	38	chr5	141945772	.	G	A	775.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.571;DP=836;ExcessHet=0.0000;FS=2.300;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.93;ReadPosRankSum=-9.170e-01;SOR=0.366	GT:AD:DP:GQ:PL	0/1:30,30:60:99:790,0,798	20	0	1	0
chr5	149259544	149259544	A	G	splicing	ABLIM3	NM_001301028:exon19:c.1606-2A>G	.	.	.	.	423	1063	33	3	0	39	0.0180139	0	0.006	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.000	N	.	.	.	.	.	.	.	.	.	-1.171	0.089	-8.31	-1.449	-2.826	2.437	.	.	.	0.00479233	0.0129	0	0.0160	0	0.0006	0.0052	0.0055	0.0210	0.0016494	255	154602	rs534581717	0.0032	0.0031	0.0026	0.0039	0.0233	0.0032	0.0031	0.0224	0.0221	0.0002	0.0030	0.0096	2.798e-05	0.0005	0.0074	0.0018	0.0044	0.0233	0.0023	0.0023	0.0020	0.0027	0.0214	0.0021	0.0020	0.0180	0.0168	0.0002	0	0.0025	0.0072	0	9.418e-05	0.0068	0.0024	0.0057	0.0214	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.19072	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.840044	0.00003	T	-0.962521	0.00225	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.095399	0.03670	0.738	0.27858813484829209	0.01403	0.00144	0.00877	N	AEFBI	.	.	.	-1.47130147512055	0.02055	0.09032965	-1.69724869164619	0.01149	0.05170863	0.999982787927218	0.51787	0.218109	0.04136	0	0.059962	0.00310	0	0.078618	0.02440	0	0.357269	0.05819	0	0.103113	0.22672	4.67	-8.31	0.00877	-2.807000	0.00827	-0.339000	0.09830	-2.761000	0.00195	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.3957:0.2122:0.2942:0.098	2.437	0.04212	862	0.33134	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	1609.11	34	chr5	149259544	.	A	G	1609.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-1.595e+00;DP=854;ExcessHet=0.1072;FS=2.080;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=11.02;ReadPosRankSum=1.38;SOR=0.820	GT:AD:DP:GQ:PL	0/1:41,33:74:99:721,0,1109	19	0	2	0
chr5	149832789	149832789	G	A	exonic	PPARGC1B	.	nonsynonymous SNV	PPARGC1B:NM_001172698:exon4:c.G599A:p.S200N	.	.	416	1094	11	1	0	13	0.00590641	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.18	T	0.933	P	0.623	P	0.384	N	1.000	N	1.78	L	2.94	T	-1.087	T	0.031	T	0.078	0.846	8.421	3.85	1.402	1.763	10.305	0.049	0.00863472975336	0.0005	0.000798722	0.0009	9.925e-05	0.0031	0	0	0.0008	0.0068	0.0009	0.0008409	130	154602	rs151338666	0.0006	0.0006	0.0006	0.0007	0.0200	0.0006	0.0006	0.0170	0.0159	0.0002	0.0026	0.0020	0	0	0.0200	0.0004	0.0014	0.0008	0.0007	0.0007	0.0008	0.0006	0.0018	0.0006	0.0005	0.0012	0.0011	0.0002	0	0.0018	0.0035	0	0	0.0136	0.0007	0.0028	0.0006	0.003	0.72154	D	0.028	0.54934	D	0.867	0.49136	P	0.461	0.48239	P	0.383765	0.13353	N	0.721594	1	0.08975	N	2.42	0.70002	M	2.89	0.10196	T	-1.58	0.38151	N	0.353	0.39457	-1.0870	0.06048	T	0.031	0.13199	T	10	0.008510768	0.00193	T	0.008635	0.22804	T	0.049	0.13647	.	.	0.229543500084	0.22568	0.14759808508808214	0.14681	0.38529328089	0.39818	0.384144186974	0.22843	T	0.254556	0.62523	T	-0.607626	0.00131	T	-0.650827	0.08897	T	0.0475754293938352	0.05067	T	0.610439	0.23144	T	0.134911	0.31328	0.17989893	0.40755	0.134911	0.31328	0.17989893	0.40754	-5.148	0.39114	T	.	.	0.145	0.34514	B	.;.;.;.	.;.;.;.	1.833887	0.23302	15.96	0.9773674523179342	0.35653	0.52181	0.29070	D	AEFDBI	0.097574	0.19676	N	-0.0500208260370602	0.39602	2.338001	-0.131926770945527	0.34111	1.958532	0.994996718653737	0.33899	0.554377	0.28877	0	0.546412	0.12157	0	0.463624	0.06942	0	0.567892	0.33627	0	.	.	5.76	3.85	0.43556	1.545000	0.35775	5.676000	0.49275	0.676000	0.76740	0.338000	0.25657	1.000000	0.68203	0.016000	0.10718	0.0689:0.2573:0.6738:0.0	10.305	0.42853	816	0.41767	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1010.98	33	chr5	149832789	.	G	A	1010.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.580;DP=1020;ExcessHet=0.0000;FS=3.739;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.72;ReadPosRankSum=1.61;SOR=0.980	GT:AD:DP:GQ:PL	0/1:64,40:104:99:1025,0,1803	20	0	1	0
chr5	150194893	150194893	G	A	exonic	SLC6A7	.	nonsynonymous SNV	SLC6A7:NM_014228:exon2:c.G199A:p.A67T,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	0.269	B	0.351	B	0.000	D	0.990	D	1.605	L	-0.84	T	-0.306	T	0.424	T	0.576	3.002	16.01	5.82	2.756	2.983	20.085	0.379	0.0377479562622	.	.	1.654e-05	0	0	0	0	1.503e-05	0	6.15e-05	1.29e-05	2	154602	rs763619367	1.095e-05	1.094e-05	8.168e-06	1.375e-05	0.0003	6.48e-06	5.24e-06	6.096e-05	2.522e-05	2.987e-05	0	0	0	0	0.0003	8.094e-06	1.656e-05	3.478e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.292	0.18371	T	0.13	0.39340	T	0.269	0.31731	B	0.351	0.42849	B	0.000008	0.62929	D	0.109624	0.990227	0.41113	D	2.24	0.63355	M	-0.84	0.74265	T	-2.34	0.51811	N	0.445	0.49146	-0.3058	0.74823	T	0.424	0.76796	T	10	0.6116603	0.67478	D	0.037748	0.57805	D	0.379	0.69696	0.901	0.97816	0.887071728796	0.88596	0.4164770372269345	0.41563	0.230418025629	0.25588	0.817568182945	0.84655	D	0.25257	0.62297	T	-0.100568	0.36330	T	-0.200707	0.54579	T	0.272937774658203	0.23873	T	0.918108	0.70605	D	0.3324443	0.55670	0.38990754	0.63799	0.3324443	0.55670	0.38990754	0.63799	-5.411	0.41025	T	.	.	0.382	0.58523	A	.;.	.;.	3.837586	0.55512	23.6	0.99801409203295155	0.88639	0.93915	0.59560	D	AEFDGBI	0.517685	0.54370	D	0.158993768718815	0.49238	3.126476	0.257395488322713	0.53071	3.477977	0.972106338549959	0.29342	0.516011	0.20929	0	0.610034	0.51514	0	0.578056	0.29568	0	0.542086	0.14980	0	.	.	5.82	5.82	0.92740	2.487000	0.44926	6.718000	0.56421	0.676000	0.76740	0.996000	0.39380	1.000000	0.68203	0.754000	0.35928	0.0:0.0:1.0:0.0	20.085	0.97797	779	0.47767	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1433.98	34	chr5	150194893	.	G	A	1433.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.229;DP=811;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.26;ReadPosRankSum=-1.594e+00;SOR=0.731	GT:AD:DP:GQ:PL	0/1:61,56:117:99:1448,0,1530	20	0	1	0
chr5	157052557	157052557	C	0	exonic	HAVCR1	.	.	.	.	.	1	2	91	30	102	253	0.974194	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.8333	114730.68	413	chr5	157052557	.	C	*,CGTT	114730.68	.	AC=31,10;AF=0.738,0.238;AN=42;DP=11099;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=31,10;MLEAF=0.738,0.238;MQ=60.00;QD=11.64;SOR=0.614	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,471,0:471:99:.:.:21106,1427,0,21106,1427,21106	0	12	1	0
chr5	157626602	157626602	T	C	exonic	SOX30	.	nonsynonymous SNV	SOX30:NM_178424:exon5:c.A2000G:p.N667S	.	.	432	1078	12	0	0	12	0.00553506	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07	T	0.988	D	0.696	P	0.000	D	1.000	D	0.695	N	-4.54	D	0.763	D	0.813	D	0.056	2.953	15.84	4.39	1.040	2.660	10.586	0.445	0.25364775946	0.0021	0.00179712	0.0024	0.0012	0.0029	0	0.0008	0.0034	0.0055	0.0005	0.0023738	367	154602	rs142156325	0.0023	0.0023	0.0023	0.0024	0.0113	0.0022	0.0022	0.0091	0.0083	0.0007	0.0022	0.0067	0	0.0006	0.0113	0.0025	0.0030	0.0010	0.0022	0.0022	0.0021	0.0022	0.0033	0.0020	0.0019	0.0026	0.0025	0.0009	0	0.0033	0.0049	0.0002	0.0005	0.0170	0.0029	0.0061	0.0008	0.052	0.40573	T	0.004	0.74150	D	0.988	0.62325	D	0.696	0.54017	P	0.000285	0.46274	D	0.093611	0.502721	0.81001	D	0.975	0.24501	L	-4.54	0.98035	D	-0.98	0.25986	N	0.199	0.21969	0.763	0.93959	D	0.813	0.93694	D	10	0.008012384	0.00182	T	0.253648	0.89220	D	0.445	0.74727	.	.	0.855231433708	0.85383	0.3440589127057706	0.34319	.	.	0.406170248985	0.25927	T	0.01832	0.14790	T	-0.327004	0.06340	T	-0.245546	0.50257	T	0.0241507880921968	0.01164	T	0.854615	0.55864	D	0.06342702	0.13353	0.08885231	0.20743	0.06342702	0.13353	0.08885231	0.20743	-2.748	0.07715	T	0.18324159567197426	0.23712	0.122	0.35663	B	.;.	.;.	2.724808	0.35650	19.95	0.99758519951031543	0.84851	0.84611	0.43695	D	AEFBI	0.296492	0.40632	N	0.0544270289902966	0.44347	2.710382	0.11418689255694	0.45274	2.793434	0.491236541793476	0.20865	0.553676	0.25195	0	0.588015	0.36545	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	5.56	4.39	0.52211	2.639000	0.46236	5.079000	0.47249	-0.108000	0.15293	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:0.0733:0.0:0.9267	10.586	0.44474	829	0.39537	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1436.98	33	chr5	157626602	.	T	C	1436.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.926e+00;DP=785;ExcessHet=0.0000;FS=4.089;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.62;ReadPosRankSum=-2.610e-01;SOR=0.387	GT:AD:DP:GQ:PL	0/1:35,57:92:99:1451,0,969	20	0	1	0
chr5	177398229	177398229	T	-	exonic	SLC34A1	.	frameshift deletion	SLC34A1:NM_003052:exon13:c.1863delT:p.A622Pfs*60,	Fanconi renotubular syndrome 2, Autosomal recessive;Hypercalcemia, infantile, 2, Autosomal recessive;Nephrolithiasis/osteoporosis, hypophosphatemic, 1, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.38e-06	1.368e-06	2.747e-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	1.314e-05	1.313e-05	0	2.69e-05	0.0001	2.18e-06	8.2e-07	2.261e-05	9.07e-06	0	0	0.0001	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	881.94	34	chr5	177398228	.	CT	C	881.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.080e-01;DP=772;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.78;ReadPosRankSum=-1.013e+00;SOR=0.788	GT:AD:DP:GQ:PL	0/1:37,27:64:99:896,0,1299	20	0	1	0
chr5	179345258	179345258	-	GCAGCAGCAGCAGCA	exonic	ADAMTS2	.	nonframeshift insertion	ADAMTS2:NM_014244:exon1:c.70_71insTGCTGCTGCTGCTGC:p.L23_P24insLLLLL	Ehlers-Danlos syndrome, type VIIC, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	1686341	Ehlers-Danlos_syndrome,_dermatosparaxis_type|not_provided	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410,Orphanet:1901|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs568040559	2.123e-05	1.574e-05	1.933e-05	2.33e-05	0.0003	1.364e-05	1.157e-05	0.0001	8.041e-05	0.0001	0	0	0.0003	0	0	1.617e-05	0	0	2.04e-05	1.989e-05	1.326e-05	2.791e-05	0.0001	5.42e-06	2.5e-06	2.312e-05	9.26e-06	2.496e-05	0	0.0001	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	5145.56	17	chr5	179345258	.	G	GGCA,GGCAGCAGCAGCAGCA	5145.56	.	AC=6,1;AF=0.143,0.024;AN=42;BaseQRankSum=-2.730e-01;DP=757;ExcessHet=2.5830;FS=0.000;InbreedingCoeff=-0.2000;MLEAC=6,1;MLEAF=0.143,0.024;MQ=60.00;MQRankSum=0.00;QD=15.74;ReadPosRankSum=-2.730e-01;SOR=0.684	GT:AD:DP:GQ:PL	0/2:9,0,12:23:99:477,509,913,0,384,342	14	0	6	0
chr5	179522611	179522611	C	0	exonic	C5orf60	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3611	21034.34	33	chr5	179522611	.	C	T,*	21034.34	.	AC=11,2;AF=0.306,0.056;AN=36;BaseQRankSum=-1.750e-01;DP=1073;ExcessHet=0.0378;FS=0.561;InbreedingCoeff=0.3964;MLEAC=13,1;MLEAF=0.361,0.028;MQ=58.35;MQRankSum=1.99;QD=28.08;ReadPosRankSum=-4.950e-01;SOR=0.788	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,51,0:51:99:1|1:179522611_C_T:2264,154,0,2264,154,2264:179522611	9	3	5	3
chr5	179522612	179522612	A	0	exonic	C5orf60	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3611	21034.34	33	chr5	179522612	.	A	G,*	21034.34	.	AC=11,2;AF=0.306,0.056;AN=36;BaseQRankSum=1.64;DP=1065;ExcessHet=0.0378;FS=0.561;InbreedingCoeff=0.3964;MLEAC=13,1;MLEAF=0.361,0.028;MQ=58.37;MQRankSum=1.99;QD=28.08;ReadPosRankSum=-4.910e-01;SOR=0.788	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,51,0:51:99:1|1:179522611_C_T:2264,154,0,2264,154,2264:179522611	9	3	5	3
chr6	656539	656539	C	A	exonic	HUS1B	.	nonsynonymous SNV	HUS1B:NM_148959:exon1:c.G406T:p.V136L,	.	.	433	1085	4	0	0	4	0.00183993	.	.	710584	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.2	T	0.945	P	0.449	P	0.000	U	0.992	N	1.455	L	2.49	T	-1.011	T	0.014	T	0.294	2.960	15.87	2.58	0.796	0.808	6.803	0.128	.	0.0081	0.0159744	0.0031	0.0372	0.0014	0	0	4.966e-05	0	0.0002	0.0029624	458	154602	rs76953401	0.0010	0.0010	0.0011	0.0009	0.0343	0.0010	0.0009	0.0326	0.0319	0.0343	0.0019	0	0	0	0.0031	4.156e-05	0.0024	0.0001	0.0095	0.0095	0.0098	0.0092	0.0331	0.0091	0.0089	0.0316	0.0310	0.0331	0	0.0031	0	0	0	0.0068	0.0001	0.0052	0	0.073	0.34800	T	0.013	0.63109	D	0.945	0.53279	P	0.449	0.46066	P	0.000005	0.62929	U	0.000000	0.991678	0.41446	D	2.11	0.58565	M	2.49	0.14531	T	-1.52	0.36980	N	0.319	0.35938	-1.0108	0.26666	T	0.014	0.05369	T	10	0.010014981	0.00224	T	.	.	.	0.128	0.35103	0.914	0.98346	0.132336055621	0.12781	0.5401032904702541	0.53935	0.310121233535	0.33327	0.462537229061	0.33659	T	0.025	0.18998	T	-0.442832	0.01245	T	-0.382414	0.35439	T	0.0621392912288291	0.07502	T	0.521348	0.16985	T	0.33209947	0.55642	0.3269332	0.58595	0.33209947	0.55642	0.3269332	0.58594	-5.336	0.40298	T	.	.	0.324	0.54818	B	.	.	1.632057	0.20835	14.93	0.95829371387382711	0.27933	0.12742	0.17453	N	AEFDBI	0.041696	0.06374	N	-0.398438018169985	0.25525	1.386219	-0.564583747814594	0.20419	1.100044	0.999384432977034	0.39415	0.241074	0.04172	3	0.546412	0.12157	0	0.55559	0.18752	1	0.714379	0.83352	0	.	.	3.46	2.58	0.30011	1.076000	0.30340	-0.239000	0.10608	0.524000	0.24156	0.238000	0.24727	0.000000	0.08366	0.120000	0.19168	0.0:0.8654:0.0:0.1346	6.803	0.22947	934	0.15400	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1238.98	39	chr6	656539	.	C	A	1238.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-9.230e-01;DP=1110;ExcessHet=0.0000;FS=8.281;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.32;ReadPosRankSum=-8.900e-02;SOR=1.036	GT:AD:DP:GQ:PL	0/1:43,50:93:99:1253,0,1194	20	0	1	0
chr6	1313711	1313711	C	G	exonic	FOXQ1	.	nonsynonymous SNV	FOXQ1:NM_033260:exon1:c.C1007G:p.A336G,	.	.	490	1008	24	0	0	24	0.0117647	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.11	T	0.664	P	0.098	B	0.772	U	1.000	N	0.345	N	-3.22	D	-0.594	T	0.343	T	0.076	0.889	8.612	2.65	1.700	-0.394	5.155	0.210	0.545049963259	.	.	0	.	.	.	.	.	.	.	4.53e-05	7	154602	rs771606516	0.0014	0.0010	0.0012	0.0015	0.0293	0.0013	0.0013	0.0272	0.0264	0.0002	0.0003	0.0139	0	0	0.0084	0.0006	0.0038	0.0293	0.0019	0.0018	0.0015	0.0023	0.0216	0.0017	0.0016	0.0182	0.0170	4.871e-05	0	0.0032	0.0124	0.0004	0	0.0068	0.0011	0.0019	0.0216	0.039	0.42487	D	0.052	0.47581	T	0.664	0.41009	P	0.098	0.30479	B	0.771926	0.09541	U	0.860006	1	0.08975	N	1.355	0.33814	L	-3.22	0.93352	D	-0.92	0.24676	N	0.056	0.02759	-0.5942	0.65052	T	0.343	0.70883	T	10	0.009075165	0.00205	T	0.54505	0.95781	D	0.210	0.50028	.	.	0.406806705197	0.40296	0.17205183428388818	0.17125	.	.	0.875367939472	0.93327	D	0.054964	0.29873	T	-0.384017	0.02938	T	-0.369942	0.36894	T	0.0942056721455589	0.11707	T	0.374863	0.08927	T	0.107452996	0.25410	0.1326974	0.31837	0.107452996	0.25409	0.1326974	0.31836	-3.852	0.21584	T	.	.	0.065	0.01934	B	.	.	2.226126	0.28416	17.79	0.96389220747806925	0.29647	0.45734	0.27604	N	AEFDGBHCI	0.056347	0.10411	N	-0.68829208733001	0.16353	0.832473	-0.760589752317266	0.15462	0.8133447	0.999999999996442	0.74766	0.59774	0.34471	0	0.657636	0.61667	0	0.606814	0.37721	0	0.63947	0.58350	0	.	.	3.55	2.65	0.30588	-0.323000	0.08039	0.838000	0.22015	0.242000	0.18252	0.000000	0.06391	0.001000	0.17328	0.024000	0.12247	0.0:0.7369:0.0:0.2631	5.155	0.14357	966	0.07191	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	144.99	10	chr6	1313711	.	C	G	144.99	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.842;DP=478;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0251;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=20.71;ReadPosRankSum=-1.006e+00;SOR=0.368	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:3,4:7:99:0|1:1313711_C_G:159,0,114:1313711	20	0	1	0
chr6	16327687	16327687	-	TGCTGCTGC	exonic	ATXN1	.	nonframeshift insertion	ATXN1:NM_001128164:exon7:c.623_624insGCAGCAGCA:p.Q208_H209insQQQ	Spinocerebellar ataxia 1, Autosomal dominant	.	17	803	243	34	425	736	0.162233	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2857	16693.27	58	chr6	16327684	.	ATGC	A,CTGC,ATGCTGCTGCTGC,ATGCTGC,ATGCTGCTGCTGCTGC	16693.27	.	AC=4,4,1,4,1;AF=0.095,0.095,0.024,0.095,0.024;AN=42;BaseQRankSum=1.23;DP=1584;ExcessHet=2.0984;FS=2.489;InbreedingCoeff=-0.0714;MLEAC=4,4,1,4,1;MLEAF=0.095,0.095,0.024,0.095,0.024;MQ=59.96;MQRankSum=0.00;QD=24.88;ReadPosRankSum=0.974;SOR=0.909	GT:AD:DP:GQ:PL	0/2:24,0,12,0,0,0:36:99:830,805,2493,0,1460,1663,490,1993,1025,2290,805,2493,1460,1993,2493,805,2493,1460,1993,2493,2493	9	0	3	0
chr6	16327687	16327687	-	TGC	exonic	ATXN1	.	nonframeshift insertion	ATXN1:NM_001128164:exon7:c.623_624insGCA:p.Q208_H209insQ	Spinocerebellar ataxia 1, Autosomal dominant	.	17	803	243	34	425	736	0.162233	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2857	16693.27	58	chr6	16327684	.	ATGC	A,CTGC,ATGCTGCTGCTGC,ATGCTGC,ATGCTGCTGCTGCTGC	16693.27	.	AC=4,4,1,4,1;AF=0.095,0.095,0.024,0.095,0.024;AN=42;BaseQRankSum=1.23;DP=1584;ExcessHet=2.0984;FS=2.489;InbreedingCoeff=-0.0714;MLEAC=4,4,1,4,1;MLEAF=0.095,0.095,0.024,0.095,0.024;MQ=59.96;MQRankSum=0.00;QD=24.88;ReadPosRankSum=0.974;SOR=0.909	GT:AD:DP:GQ:PL	0/2:24,0,12,0,0,0:36:99:830,805,2493,0,1460,1663,490,1993,1025,2290,805,2493,1460,1993,2493,805,2493,1460,1993,2493,2493	9	0	3	0
chr6	16327687	16327687	-	TGCTGCTGCTGC	exonic	ATXN1	.	nonframeshift insertion	ATXN1:NM_001128164:exon7:c.623_624insGCAGCAGCAGCA:p.Q208_H209insQQQQ	Spinocerebellar ataxia 1, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2857	16693.27	58	chr6	16327684	.	ATGC	A,CTGC,ATGCTGCTGCTGC,ATGCTGC,ATGCTGCTGCTGCTGC	16693.27	.	AC=4,4,1,4,1;AF=0.095,0.095,0.024,0.095,0.024;AN=42;BaseQRankSum=1.23;DP=1584;ExcessHet=2.0984;FS=2.489;InbreedingCoeff=-0.0714;MLEAC=4,4,1,4,1;MLEAF=0.095,0.095,0.024,0.095,0.024;MQ=59.96;MQRankSum=0.00;QD=24.88;ReadPosRankSum=0.974;SOR=0.909	GT:AD:DP:GQ:PL	0/2:24,0,12,0,0,0:36:99:830,805,2493,0,1460,1663,490,1993,1025,2290,805,2493,1460,1993,2493,805,2493,1460,1993,2493,2493	9	0	3	0
chr6	24145554	24145554	C	G	exonic	NRSN1	.	nonsynonymous SNV	NRSN1:NM_080723:exon4:c.C196G:p.L66V,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.997	D	0.946	D	0.000	D	1.000	D	2.015	M	2.04	T	-1.026	T	0.105	T	0.742	3.788	19.23	5.46	2.571	5.817	19.326	0.159	0.0244498327376	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	3.42e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.005	0.63226	D	0.014	0.62352	D	0.997	0.70673	D	0.946	0.68276	D	0.000000	0.84330	D	0.000000	0.999997	0.58761	D	1.995	0.54099	M	2.04	0.38397	T	-1.04	0.27259	N	0.598	0.61680	-1.0261	0.21723	T	0.105	0.38341	T	10	0.38316447	0.54345	T	0.02445	0.47438	T	0.159	0.41286	0.222	0.14518	0.592685350901	0.58946	0.5903367191441313	0.58963	1.01389843922	0.74865	0.620901226997	0.55857	T	0.070066	0.33867	T	0.0642638	0.60145	T	-0.145466	0.59643	T	0.947459578514099	0.62685	D	0.808619	0.45852	T	0.4937834	0.66727	0.37499517	0.62653	0.4937834	0.66728	0.37499517	0.62652	-4.546	0.31486	T	.	.	0.126	0.27222	B	.;.;.	.;.;.	4.497323	0.70306	25.5	0.99826269118642064	0.90852	0.95160	0.63658	D	AEFBCI	0.809917	0.73329	D	0.709881601940465	0.80282	7.259509	0.688265315290989	0.81488	7.538295	0.999999999663906	0.74766	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.46	5.46	0.80021	5.804000	0.68800	7.707000	0.66598	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.973000	0.55318	0.0:1.0:0.0:0.0	19.326	0.94248	842	0.36989	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.4474	3322.42	61	chr6	24145554	.	C	G,T	3322.42	.	AC=6,11;AF=0.158,0.289;AN=38;BaseQRankSum=-1.663e+00;DP=1570;ExcessHet=25.1139;FS=225.828;InbreedingCoeff=-0.7530;MLEAC=6,12;MLEAF=0.158,0.316;MQ=60.00;MQRankSum=0.00;QD=2.85;ReadPosRankSum=0.280;SOR=12.310	GT:AD:DP:GQ:PL	0/1:46,13,10:69:74:127,0,688,74,614,808	2	0	6	2
chr6	24145554	24145554	C	T	exonic	NRSN1	.	nonsynonymous SNV	NRSN1:NM_080723:exon4:c.C196T:p.L66F,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	1.0	D	0.989	D	0.000	D	1.000	D	2.36	M	2.04	T	-0.937	T	0.125	T	0.77	4.052	20.8	5.46	2.571	5.817	19.326	0.220	0.0253960966298	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.005	0.63226	D	0.013	0.63109	D	1.0	0.90584	D	0.989	0.78396	D	0.000000	0.84330	D	0.000000	0.999999	0.58761	D	2.69	0.78713	M	2.04	0.39401	T	-1.57	0.50175	N	0.716	0.72120	-0.9366	0.43149	T	0.125	0.43008	T	10	0.44065765	0.58079	T	0.025396	0.48370	D	0.220	0.51569	0.202	0.11659	0.625481101073	0.62243	0.6214858075856532	0.62081	1.05154938784	0.76170	0.661980450153	0.61693	T	0.106732	0.41833	T	0.0952099	0.63771	D	-0.101014	0.63320	T	0.97040581703186	0.68937	D	0.857914	0.54791	D	0.46572846	0.65027	0.39292505	0.64025	0.46572846	0.65028	0.39292505	0.64025	-5.631	0.43075	T	.	.	0.162	0.37159	B	.;.;.	.;.;.	4.745988	0.76591	26.5	0.99895236271233467	0.96819	0.96227	0.68120	D	AEFBCI	0.831099	0.74969	D	0.760478614766467	0.83585	8.056313	0.721496033539898	0.84012	8.174695	0.999999999663906	0.74766	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.46	5.46	0.80021	5.804000	0.68800	7.707000	0.66598	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.973000	0.55318	0.0:1.0:0.0:0.0	19.326	0.94248	842	0.36989	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.4474	3322.42	61	chr6	24145554	.	C	G,T	3322.42	.	AC=6,11;AF=0.158,0.289;AN=38;BaseQRankSum=-1.663e+00;DP=1570;ExcessHet=25.1139;FS=225.828;InbreedingCoeff=-0.7530;MLEAC=6,12;MLEAF=0.158,0.316;MQ=60.00;MQRankSum=0.00;QD=2.85;ReadPosRankSum=0.280;SOR=12.310	GT:AD:DP:GQ:PL	0/1:46,13,10:69:74:127,0,688,74,614,808	2	0	6	2
chr6	25855176	25855176	G	A	exonic	SLC17A3	.	nonsynonymous SNV	SLC17A3:NM_006632:exon5:c.C446T:p.T149I	.	.	430	1088	4	0	0	4	0.00183486	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.26	T	0.589	P	0.459	P	0.784	N	1.000	N	1.955	M	0.43	T	-0.966	T	0.088	T	0.258	2.310	13.68	2.04	0.309	-0.275	3.992	0.050	0.015075724564	0.0020	0.000998403	0.0005	0.0044	0.0006	0	0	0.0001	0	0	0.0004528	70	154602	rs116645668	0.0003	0.0003	0.0003	0.0002	0.0064	0.0003	0.0002	0.0057	0.0054	0.0064	0.0007	0	0	0	0.0024	0.0001	0.0005	3.48e-05	0.0015	0.0015	0.0016	0.0014	0.0049	0.0013	0.0013	0.0044	0.0041	0.0049	0	0.0007	0	0	0	0.0034	0.0001	0.0005	0	0.022	0.48642	D	0.029	0.54541	D	0.589	0.39027	P	0.405	0.44649	B	0.784462	0.06674	N	1.124900	1	0.08975	N	1.895	0.50365	L	0.43	0.56772	T	-2.81	0.59389	D	0.144	0.14480	-0.9662	0.37974	T	0.088	0.34105	T	10	0.01483652	0.00312	T	0.015076	0.35602	T	0.050	0.13987	.	.	0.583804852878	0.58053	0.18711108016606656	0.18629	0.0920125637345	0.10386	0.351244866848	0.18105	T	0.308274	0.68038	T	-0.47393	0.00804	T	-0.453141	0.27351	T	0.0310626683885867	0.02156	T	0.451055	0.37774	T	0.079651356	0.18209	0.11888773	0.28697	0.079651356	0.18208	0.11888773	0.28696	-5.626	0.43029	T	.	.	0.111	0.30211	B	.;.;.	.;.;.	1.048298	0.14294	10.87	0.99471567859222332	0.66365	0.02863	0.07630	N	AEFI	0.101139	0.20321	N	-0.59293698564262	0.19159	1.000491	-0.726583690131666	0.16300	0.8616366	0.00153557738942595	0.08622	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	4.05	2.04	0.25787	0.001000	0.12940	0.036000	0.13800	0.676000	0.76740	0.000000	0.06391	0.000000	0.08366	0.245000	0.23132	0.1447:0.0:0.6272:0.2281	3.992	0.09030	547	0.72440	.;Major facilitator superfamily domain;Major facilitator superfamily domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	657.98	34	chr6	25855176	.	G	A	657.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.610e-01;DP=768;ExcessHet=0.0000;FS=2.067;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.97;ReadPosRankSum=-1.321e+00;SOR=0.663	GT:AD:DP:GQ:PL	0/1:36,30:66:99:672,0,881	20	0	1	0
chr6	29044325	29044325	C	T	exonic	OR2W1	.	nonsynonymous SNV	OR2W1:NM_030903:exon1:c.G851A:p.S284N,	.	.	431	1076	15	0	0	15	0.00692201	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.998	D	0.94	D	0.000	D	0.504	D	1.2	L	1.12	T	-0.980	T	0.098	T	0.121	3.495	17.87	3.85	2.175	0.502	7.224	0.129	0.00262788612297	.	0.000798722	0.0006	0.0001	0.0018	0	0	0.0003	0.0023	0.0014	0.0005239	81	154602	rs184513987	0.0004	0.0004	0.0003	0.0004	0.0022	0.0003	0.0003	0.0018	0.0017	5.975e-05	0.0022	0	5.038e-05	3.825e-05	0.0021	0.0003	0.0006	0.0010	0.0006	0.0006	0.0005	0.0006	0.0029	0.0005	0.0004	0.0022	0.0020	0.0002	0	0.0029	0	0	0	0	0.0004	0.0019	0.0006	0.044	0.41096	D	0.009	0.66756	D	0.998	0.73220	D	0.94	0.67560	D	0.000454	0.44317	D	0.100730	0.50365	0.31762	D	1.28	0.32218	L	1.12	0.38718	T	-1.55	0.37566	N	0.159	0.16586	-0.9797	0.35071	T	0.098	0.36754	T	10	0.023964196	0.00643	T	0.002628	0.05349	T	0.129	0.35316	.	.	0.485920709088	0.48224	0.2233275787852587	0.22247	0.431796011397	0.43370	0.189784154296	0.00221	T	0.069574	0.33743	T	-0.554311	0.00275	T	-0.574864	0.15006	T	0.0525696087280453	0.05946	T	.	.	.	0.35048017	0.57105	0.61600435	0.77646	0.35048017	0.57105	0.61600435	0.77647	-7.732	0.59230	D	.	.	0.501	0.64649	A	.	.	2.898366	0.38406	20.7	0.99625972783966088	0.75716	0.12486	0.17298	N	AEFBI	0.125513	0.24205	N	0.237739127686109	0.53037	3.474397	0.173753230371986	0.48415	3.05762	0.0490267628433473	0.14790	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.79	3.85	0.43556	1.556000	0.35895	-11.258000	0.00621	0.531000	0.24825	0.001000	0.13787	0.000000	0.08366	0.996000	0.76049	0.2696:0.5735:0.1569:0.0	7.224	0.25179	749	0.51929	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	922.98	33	chr6	29044325	.	C	T	922.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.45;DP=1423;ExcessHet=0.0000;FS=1.914;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.99;ReadPosRankSum=-6.600e-01;SOR=1.016	GT:AD:DP:GQ:PL	0/1:48,36:84:99:937,0,1183	20	0	1	0
chr6	29942948	29942948	C	0	exonic	HLA-A	.	.	.	.	.	4	962	413	52	91	608	0.211798	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2857	11446.09	83	chr6	29942948	.	C	G,*	11446.09	.	AC=7,5;AF=0.167,0.119;AN=42;BaseQRankSum=2.18;DP=2279;ExcessHet=3.2961;FS=4.407;InbreedingCoeff=-0.1632;MLEAC=7,5;MLEAF=0.167,0.119;MQ=58.86;MQRankSum=-2.836e+00;QD=8.92;ReadPosRankSum=-1.240e+00;SOR=1.060	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:111,0,28:139:99:0|1:29942911_A_G:842,1176,5837,0,4661,4577:29942911	10	1	5	0
chr6	29942984	29942984	G	0	exonic	HLA-A	.	.	.	.	.	21	460	694	307	40	1348	0.587074	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5263	27213.23	96	chr6	29942984	.	G	A,*	27213.23	.	AC=17,4;AF=0.447,0.105;AN=38;BaseQRankSum=2.07;DP=1862;ExcessHet=2.0051;FS=0.540;InbreedingCoeff=-0.1455;MLEAC=18,4;MLEAF=0.474,0.105;MQ=58.85;MQRankSum=-2.139e+00;QD=18.59;ReadPosRankSum=-7.460e-01;SOR=0.769	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:88,0,23:111:99:0|1:29942911_A_G:701,966,4661,0,3695,3626:29942911	3	4	8	2
chr6	29942985	29942985	A	0	exonic	HLA-A	.	.	.	.	.	8	1279	183	12	40	247	0.0748644	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1875	3424.32	96	chr6	29942985	.	A	G,*	3424.32	.	AC=3,3;AF=0.094,0.094;AN=32;BaseQRankSum=1.35;DP=1731;ExcessHet=0.1217;FS=2.663;InbreedingCoeff=0.0413;MLEAC=4,4;MLEAF=0.125,0.125;MQ=57.98;MQRankSum=-3.446e+00;QD=8.10;ReadPosRankSum=-2.600e-01;SOR=0.917	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:88,0,23:111:99:0|1:29942911_A_G:701,966,4661,0,3695,3626:29942911	11	1	1	5
chr6	29943542	29943542	G	0	exonic	HLA-A	.	.	.	.	.	2	437	1008	1	74	1084	0.536093	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.35	6146.8	107	chr6	29943542	.	G	T,*	6146.8	.	AC=13,1;AF=0.325,0.025;AN=40;BaseQRankSum=-1.114e+00;DP=2095;ExcessHet=14.4320;FS=2.349;InbreedingCoeff=-0.5273;MLEAC=13,1;MLEAF=0.325,0.025;MQ=58.53;MQRankSum=-3.892e+00;QD=4.14;ReadPosRankSum=1.73;SOR=0.488	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:101,39,0:140:99:.:.:950,0,2884,1253,3000,4253	6	0	13	1
chr6	29944308	29944308	C	T	exonic	HLA-A	.	nonsynonymous SNV	HLA-A:NM_001242758:exon4:c.C806T:p.A269V	.	.	3	1389	128	2	0	132	0.0453608	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	D	1.0	D	0.996	D	0.021	N	0.944	N	1.505	L	4.18	T	-1.049	T	0.013	T	0.464	1.395	10.60	3.69	2.070	-0.097	11.152	0.081	.	.	.	0.0410	0.0786	0.0841	0.0011	0.0347	0.0310	0.0497	0.0527	0.0001921	5	26028	rs148794540	0.0013	0.0063	0.0011	0.0015	0.0041	0.0012	0.0012	0.0037	0.0036	0.0021	0.0033	0.0010	5.875e-05	0.0023	0.0004	0.0009	0.0015	0.0041	0.0010	0.0057	0.0012	0.0008	0.0021	0.0009	0.0008	0.0016	0.0015	0.0021	0	0.0012	0.0016	0.0003	0.0004	0	0.0006	0.0023	0.0003	0.028	0.46129	D	0.041	0.50809	D	0.029	0.90584	B	0.02	0.84481	B	0.021307	0.26859	N	0.171004	0.944011	0.26704	N	.	.	.	4.18	0.02743	T	-2.33	0.54059	N	0.085	0.09631	-1.0492	0.14621	T	0.013	0.04890	T	10	0.0030664504	0.00051	T	.	.	.	0.081	0.23632	.	.	.	.	0.09802837896223301	0.09733	0.832682807749	0.67689	0.369983077049	0.20830	T	0.026582	0.19643	T	-0.179179	0.23858	T	-0.495155	0.22852	T	0.0270032397942615	0.01544	T	0.347765	0.07665	T	0.39151996	0.60140	0.24605103	0.50105	0.39151996	0.60140	0.24605103	0.50104	-8.43	0.63965	D	.	.	0.158	0.35034	B	.;.;.;.;.	.;.;.;.;.	2.278150	0.29126	18.02	0.89634627430455549	0.18967	0.11996	0.16994	N	AEFGBCI	0.290915	0.40218	N	-0.149922629522064	0.35236	2.02149	-0.167087891439065	0.32757	1.866744	0.999999942386165	0.74766	0.67177	0.52595	0	0.685571	0.66316	0	0.643519	0.47002	0	0.711	0.71501	0	.	.	3.69	3.69	0.41483	-0.929000	0.04084	.	.	0.429000	0.20894	0.000000	0.06391	0.000000	0.08366	0.232000	0.22788	0.0:1.0:0.0:0.0	11.152	0.47687	862	0.33134	Immunoglobulin C1-set|Immunoglobulin-like domain|Immunoglobulin C1-set;Immunoglobulin C1-set|Immunoglobulin-like domain|Immunoglobulin C1-set;Immunoglobulin C1-set|Immunoglobulin-like domain|Immunoglobulin C1-set;Immunoglobulin C1-set|Immunoglobulin-like domain|Immunoglobulin C1-set;Immunoglobulin C1-set|Immunoglobulin-like domain|Immunoglobulin C1-set	.	.	.	.	rs148794540	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.07143	3025.68	137	chr6	29944308	.	C	T	3025.68	.	AC=3;AF=0.071;AN=42;BaseQRankSum=0.660;DP=3139;ExcessHet=0.3300;FS=21.319;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=42.63;MQRankSum=-3.310e-01;QD=6.68;ReadPosRankSum=0.494;SOR=0.803	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:129,37:166:99:.:.:832,0,4491	18	0	3	0
chr6	30546752	30546752	G	A	exonic	GNL1	.	nonsynonymous SNV	GNL1:NM_005275:exon11:c.C1526T:p.A509V,	.	.	431	1071	19	1	0	21	0.00970874	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.28	T	0.539	P	0.147	B	0.000	D	1.000	D	1.615	L	0.99	T	-1.096	T	0.052	T	0.361	3.710	18.84	5.44	2.560	6.666	12.182	0.086	.	0.0032	0.00319489	0.0038	0.0003	0.0031	0.0004	0.0008	0.0047	0.0023	0.0059	0.0034476	533	154602	rs145831378	0.0028	0.0028	0.0025	0.0030	0.0082	0.0027	0.0027	0.0063	0.0057	0.0004	0.0028	0.0147	0.0004	0.0005	0.0082	0.0025	0.0039	0.0046	0.0024	0.0024	0.0022	0.0025	0.0048	0.0022	0.0021	0.0033	0.0028	0.0004	0	0.0029	0.0121	0.0008	0.0002	0.0068	0.0032	0.0038	0.0048	0.074	0.34621	T	0.236	0.24694	T	0.002	0.09854	B	0.001	0.04355	B	0.000009	0.62929	D	0.110120	0.999996	0.58761	D	1.665	0.42610	L	0.99	0.41750	T	-2.67	0.57110	D	0.522	0.55193	-1.0959	0.04625	T	0.052	0.22269	T	10	0.0069569647	0.00158	T	.	.	.	0.086	0.25016	.	.	0.151262610727	0.14761	0.7024483770050935	0.70185	0.893744166921	0.70334	0.514862060547	0.40903	T	0.089616	0.38410	T	-0.409983	0.01988	T	-0.36046	0.37999	T	0.0259308743458124	0.01397	T	.	.	.	0.13853389	0.32035	0.25031698	0.50620	0.13853389	0.32035	0.25031698	0.50619	-7.002	0.54048	T	.	.	0.272	0.50627	B	.	.	4.256509	0.64649	24.7	0.99745488045738573	0.83852	0.97412	0.74585	D	AEFBI	0.635611	0.61507	D	0.16132719026619	0.49351	3.136349	0.322455380877727	0.56862	3.850263	0.999998690448539	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.44	5.44	0.79348	7.116000	0.76750	.	.	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0827:0.0:0.9173:0.0	12.182	0.53524	814	0.42100	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	913.98	33	chr6	30546752	.	G	A	913.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.320e-01;DP=772;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.72;ReadPosRankSum=-3.610e-01;SOR=0.693	GT:AD:DP:GQ:PL	0/1:36,42:78:99:928,0,783	20	0	1	0
chr6	30915784	30915784	G	A	exonic	VARS2	.	startloss	VARS2:NM_001167733:exon4:c.G3A:p.M1?	Combined oxidative phosphorylation deficiency 20, Autosomal recessive	.	425	1086	11	0	0	11	0.00503894	.	.	413702	Inborn_genetic_diseases|VARS2-related_disorder|not_provided	MeSH:D030342,MedGen:C0950123|.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	1	T	0.018	B	0.032	B	0.000	D	1.000	D	-0.27	N	3.31	T	-0.999	T	0.012	T	0.7	2.217	13.37	4.5	2.343	1.856	9.910	0.195	0.00620896170376	0.0053	0.00499201	0.0044	0.0069	0.0057	0	0.0015	0.0053	0.0045	0.0019	0.004379	677	154602	rs141408930	0.0043	0.0043	0.0044	0.0042	0.0102	0.0042	0.0042	0.0081	0.0074	0.0085	0.0058	0.0168	0	0.0019	0.0102	0.0042	0.0054	0.0018	0.0055	0.0055	0.0055	0.0054	0.0070	0.0052	0.0050	0.0063	0.0061	0.0070	0.0011	0.0062	0.0147	0	0.0013	0.0238	0.0051	0.0119	0.0010	0.789	0.03209	T	0.706	0.08715	T	0.004	0.12183	B	0.014	0.16862	B	0.000004	0.62929	D	0.061293	1	0.81001	D	-0.34	0.03507	N	1.63	0.28002	T	-1.37	0.50666	N	0.342	0.53884	-0.9987	0.30283	T	0.012	0.04510	T	10	0.0075319707	0.00286	T	0.006209	0.16288	T	0.195	0.47612	0.503	0.59615	0.130388298395	0.12655	0.35136273888028213	0.35050	0.501566109076	0.48541	0.559248447418	0.47162	T	0.015068	0.29751	T	-0.360026	0.04129	T	-0.285083	0.46281	T	0.00981710686833485	0.00129	T	0.916008	0.70013	D	0.43892142	0.63333	0.35478348	0.61017	0.387841	0.59879	0.27453172	0.53380	-6.578	0.50885	T	.	.	0.321	0.58738	B	.;.;.;.	.;.;.;.	3.000882	0.40094	21.1	0.97311887818852782	0.33332	0.74529	0.36461	D	AEFDGBHCI	0.405353	0.47827	N	-0.43942891074437	0.24099	1.298919	-0.198595089650587	0.31588	1.789102	0.999999999944727	0.74766	0.631981	0.41245	0	0.52208	0.09955	0	0.779548	0.98927	0	0.704051	0.69138	0	.	.	4.5	4.5	0.54382	1.531000	0.35624	.	.	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:0.797:0.203	9.910	0.40568	917	0.20147	Aminoacyl-tRNA synthetase, class Ia;.;Aminoacyl-tRNA synthetase, class Ia;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1788.98	48	chr6	30915784	.	G	A	1788.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.407;DP=1134;ExcessHet=0.0000;FS=4.547;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.59;ReadPosRankSum=0.766;SOR=1.047	GT:AD:DP:GQ:PL	0/1:97,72:169:99:1803,0,2463	20	0	1	0
chr6	30986534	30986541	CCACCAAC	-	exonic	MUC21	.	frameshift deletion	MUC21:NM_001010909:exon2:c.359_366del:p.A120Vfs*2	.	.	429	1092	1	0	0	1	0.000457666	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0003	9.625e-05	0.0003	0	0	0.0005	0.0011	6.058e-05	.	.	.	rs748650873	9.851e-05	9.785e-05	9.309e-05	0.0001	0.0009	8.487e-05	8.017e-05	0.0003	0.0002	0.0001	0.0002	0.0007	0	0.0002	0.0009	6.761e-05	0.0002	9.467e-05	0.0001	0.0001	0.0001	0.0001	0.0002	6.536e-05	5.343e-05	4.776e-05	3.346e-05	0	0.0011	0	0.0009	0	0.0004	0	0.0001	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025	10134.3	432	chr6	30986533	.	GCCACCAAC	G	10134.3	.	AC=1;AF=0.025;AN=40;BaseQRankSum=7.06;DP=10318;ExcessHet=0.0000;FS=2.470;InbreedingCoeff=0.3000;MLEAC=1;MLEAF=0.025;MQ=59.30;MQRankSum=-3.934e+00;QD=13.71;ReadPosRankSum=-4.089e+00;SOR=0.529	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:443,296:739:99:0|1:30986478_G_A:10148,0,17534:30986478	19	0	1	1
chr6	30986543	30986714	CTGAGTCCAGCACACCCTCCAGTGGGGCCAGCACAGCCACCAACTCTGACTCCAGCACAACCTCCAGTGGGGCTAGCACAGCCACCAACTCTGACTCCAGCACAACCTCCAGTGAGGCCAGCACAGCCACCAACTCTGAGTCCAGCACAACCTCCAGTGGGGCCAGCACAGC	-	exonic	MUC21	.	frameshift deletion	MUC21:NM_001010909:exon2:c.368_539del:p.E124Pfs*262	.	.	424	1097	1	0	0	1	0.000455581	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0003	9.632e-05	0.0003	0	0	0.0005	0.0011	6.059e-05	.	.	.	.	7.27e-05	9.648e-05	6.673e-05	7.874e-05	0.0007	6.111e-05	5.71e-05	0.0002	0.0001	9.353e-05	0.0002	0.0005	0	0.0002	0.0007	5.027e-05	0.0001	8.289e-05	9.288e-05	9.241e-05	7.791e-05	0.0001	0.0002	5.579e-05	4.405e-05	2.857e-05	1.866e-05	0	0.0011	0	0.0009	0	0.0004	0	7.387e-05	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025	9177.29	432	chr6	30986542	.	TCTGAGTCCAGCACACCCTCCAGTGGGGCCAGCACAGCCACCAACTCTGACTCCAGCACAACCTCCAGTGGGGCTAGCACAGCCACCAACTCTGACTCCAGCACAACCTCCAGTGAGGCCAGCACAGCCACCAACTCTGAGTCCAGCACAACCTCCAGTGGGGCCAGCACAGC	T	9177.29	.	AC=1;AF=0.025;AN=40;BaseQRankSum=4.05;DP=10494;ExcessHet=0.0000;FS=2.446;InbreedingCoeff=0.3000;MLEAC=1;MLEAF=0.025;MQ=59.36;MQRankSum=-4.222e+00;QD=11.84;ReadPosRankSum=-1.387e+00;SOR=0.537	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:484,291:864:99:0|1:30986478_G_A:9191,0,27680:30986478	19	0	1	1
chr6	30986592	30986592	C	0	exonic	MUC21	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05556	6165.17	432	chr6	30986592	.	C	G,*	6165.17	.	AC=1,1;AF=0.028,0.028;AN=36;BaseQRankSum=1.61;DP=9807;ExcessHet=0.1128;FS=3.221;InbreedingCoeff=0.0789;MLEAC=1,1;MLEAF=0.028,0.028;MQ=57.72;MQRankSum=-3.235e+00;QD=5.39;ReadPosRankSum=2.99;SOR=0.488	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:259,4,435:698:99:0|1:30986592_C_*:10749,11394,21025,0,9693,10141:30986592	16	0	1	3
chr6	30986616	30986661	TAGCACAGCCACCAACTCTGACTCCAGCACAACCTCCAGTGAGGCC	0	exonic	MUC21	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09524	13728.66	432	chr6	30986616	.	TAGCACAGCCACCAACTCTGACTCCAGCACAACCTCCAGTGAGGCC	T,CAGCACAGCCACCAACTCTGACTCCAGCACAACCTCCAGTGAGGCC,*	13728.66	.	AC=1,2,1;AF=0.024,0.048,0.024;AN=42;BaseQRankSum=-8.230e-01;DP=9954;ExcessHet=0.6776;FS=6.065;InbreedingCoeff=-0.1053;MLEAC=1,2,1;MLEAF=0.024,0.048,0.024;MQ=57.99;MQRankSum=-4.406e+00;QD=7.47;ReadPosRankSum=1.85;SOR=0.567	GT:AD:DP:GQ:PGT:PID:PL:PS	0|3:261,0,5,435:701:99:0|1:30986592_C_*:10743,11561,22128,11385,21126,20914,0,10753,9601,10241:30986592	17	0	1	0
chr6	31138724	31138724	-	C	exonic	PSORS1C1	.	frameshift insertion	PSORS1C1:NM_014068:exon5:c.112dupC:p.H40Pfs*3,	.	.	442	561	311	61	147	580	0.278457	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4762	80570.49	135	chr6	31138723	.	TC	TCC,T	80570.49	.	AC=15,5;AF=0.357,0.119;AN=42;BaseQRankSum=0.541;DP=5630;ExcessHet=8.0185;FS=0.525;InbreedingCoeff=-0.3364;MLEAC=15,5;MLEAF=0.357,0.119;MQ=60.00;MQRankSum=0.00;QD=16.94;ReadPosRankSum=0.407;SOR=0.735	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:198,0,154:352:99:0|1:31138722_G_A:5774,6370,14552,0,8182,7718:31138722	4	3	9	0
chr6	31269983	31269983	C	T	exonic	HLA-C	.	nonsynonymous SNV	HLA-C:NM_001243042:exon5:c.G998A:p.C333Y	.	.	28	1411	77	6	0	89	0.0305737	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.995	D	0.994	D	0.962	U	1.000	N	1.085	L	5.73	T	-0.822	T	0.003	T	0.539	0.828	8.338	1.86	0.718	-0.775	4.945	0.118	.	.	0.023762	0.0107	0.0581	0.0088	0.0010	0.0033	0.0074	0.0108	0.0041	0.005302	138	26028	rs1143551	3.892e-05	0.0019	3.328e-05	4.473e-05	0.0018	2.76e-05	2.395e-05	0.0012	0.0010	0.0003	0	0	0.0018	0	0	7.971e-06	0	2.755e-05	1.559e-05	0.0046	2.983e-05	0	7.996e-05	0	0	.	.	7.996e-05	0	0	0	0	0	0	0	0	0	0.008	0.58626	D	0.442	0.13252	T	0.995	0.67487	D	0.994	0.82059	D	0.961562	0.07721	U	1.025580	1	0.08975	N	.	.	.	5.73	0.00734	T	0.65	0.03297	N	0.057	0.02861	-0.8215	0.53840	T	0.003	0.00864	T	10	0.003534168	0.00063	T	.	.	.	0.118	0.32913	.	.	.	.	0.10940588369650811	0.10869	1.83665520473	0.92112	0.236690431833	0.02500	T	0.006219	0.05657	T	-0.539837	0.00336	T	-0.495566	0.22809	T	0.025896967573812	0.01391	T	0.125887	0.05243	T	.	.	.	.	.	.	.	.	-4.931	0.36082	T	.	.	0.069	0.05491	B	.;.;.	.;.;.	2.340305	0.29987	18.30	0.88826057933371938	0.18286	0.03000	0.07863	N	AEFDBHCI	0.080062	0.16180	N	-0.340673899973216	0.27617	1.51662	-0.569206718883037	0.20298	1.092952	0.999999382160841	0.74766	0.67177	0.52595	0	0.672317	0.65289	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	2.76	1.86	0.24489	-1.132000	0.03346	.	.	-0.419000	0.05236	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.8191:0.0:0.1809	4.945	0.13338	934	0.15400	.;.;.	.	.	.	.	rs147538248	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.09524	11076.9	99	chr6	31269983	.	C	T	11076.9	.	AC=4;AF=0.095;AN=42;BaseQRankSum=0.051;DP=2814;ExcessHet=0.0082;FS=1.816;InbreedingCoeff=0.4474;MLEAC=4;MLEAF=0.095;MQ=57.08;MQRankSum=-5.656e+00;QD=26.44;ReadPosRankSum=0.340;SOR=0.766	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,134:134:99:1|1:31269983_C_T:5987,402,0:31269983	18	1	2	0
chr6	31269984	31269984	A	G	exonic	HLA-C	.	nonsynonymous SNV	HLA-C:NM_001243042:exon5:c.T997C:p.C333R	.	.	28	1411	77	6	0	89	0.0305737	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.995	D	0.994	D	0.962	U	1.000	N	0.74	N	5.72	T	-0.856	T	0.002	T	0.428	0.844	8.410	-2.0	-0.355	-0.711	6.411	0.100	.	.	0.0223642	0.0105	0.0576	0.0087	0.0001	0.0033	0.0073	0.0108	0.0041	0.005033	131	26028	rs41560617	1.038e-05	0.0019	1.28e-05	7.893e-06	0.0003	4.46e-06	3.23e-06	6.847e-05	3.638e-05	0.0003	0	0	0	0	0	6.376e-06	0	2.755e-05	1.569e-05	0.0046	3.001e-05	0	8.044e-05	0	0	.	.	8.044e-05	0	0	0	0	0	0	0	0	0	0.007	0.72154	D	0.273	0.22154	T	0.995	0.67487	D	0.994	0.82059	D	0.961562	0.07721	U	1.025580	1	0.08975	N	.	.	.	5.71	0.00734	T	-1.34	0.33401	N	0.105	0.08925	-0.8562	0.51534	T	0.002	0.00707	T	10	0.0034644306	0.00061	T	.	.	.	0.100	0.28662	.	.	.	.	0.19501021438939248	0.19419	1.88329240083	0.92632	0.232454329729	0.02155	T	0.035636	0.23797	T	-0.554439	0.00274	T	-0.515736	0.20728	T	0.0335258512546306	0.02558	T	0.185981	0.08182	T	.	.	.	.	.	.	.	.	-3.564	0.17338	T	.	.	0.097	0.21877	B	.;.;.	.;.;.	1.353108	0.17613	13.27	0.82700432174482796	0.14329	0.01625	0.05246	N	AEFDBHCI	0.078806	0.15908	N	-0.559233629742458	0.20195	1.062845	-0.820899333920841	0.13990	0.7286657	0.999999254125092	0.74766	0.67177	0.52595	0	0.672317	0.65289	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	2.76	-2.0	0.07024	-0.417000	0.07153	.	.	-1.050000	0.01643	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.3421:0.0:0.0:0.6579	6.411	0.20895	934	0.15400	.;.;.	.	.	.	.	rs140243942	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.09524	11073.9	99	chr6	31269984	.	A	G	11073.9	.	AC=4;AF=0.095;AN=42;BaseQRankSum=0.996;DP=2810;ExcessHet=0.0082;FS=1.816;InbreedingCoeff=0.4474;MLEAC=4;MLEAF=0.095;MQ=57.05;MQRankSum=-5.656e+00;QD=26.37;ReadPosRankSum=0.175;SOR=0.777	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,134:134:99:1|1:31269983_C_T:5987,403,0:31269983	18	1	2	0
chr6	31269985	31269985	C	T	exonic	HLA-C	.	nonsynonymous SNV	HLA-C:NM_001243042:exon5:c.G996A:p.M332I	.	.	28	1411	77	6	0	89	0.0305737	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.0	B	0.001	B	0.428	U	1.000	N	0.79	N	5.85	T	-0.941	T	0.001	T	0.443	-0.393	2.159	-5.53	-2.085	-0.612	4.091	0.109	.	.	0.023762	0.0106	0.0578	0.0087	0.0001	0.0033	0.0074	0.0108	0.0041	0.005302	138	26028	rs41540416	1.038e-05	0.0019	1.28e-05	7.893e-06	0.0003	4.46e-06	3.23e-06	6.83e-05	3.634e-05	0.0003	0	0	0	0	0	6.376e-06	0	2.755e-05	1.558e-05	0.0046	2.982e-05	0	7.991e-05	0	0	.	.	7.991e-05	0	0	0	0	0	0	0	0	0	0.03	0.53172	D	0.274	0.22084	T	0.0	0.02946	B	0.001	0.04355	B	0.427676	0.12789	U	0.657459	1	0.08975	N	.	.	.	5.85	0.00662	T	-0.81	0.22294	N	0.035	0.01004	-0.9409	0.42473	T	0.001	0.00222	T	10	0.010112762	0.00226	T	.	.	.	0.109	0.30843	0.333	0.32005	.	.	0.09930668900732408	0.09861	0.548098038175	0.51770	0.312004953623	0.12210	T	0.014848	0.12562	T	-0.586337	0.00176	T	-0.562359	0.16155	T	2.40141039539106e-05	0.00000	T	0.739226	0.35772	T	.	.	.	.	.	.	.	.	-5.08	0.37696	T	.	.	0.159	0.39442	B	.;.;.	.;.;.	0.799758	0.11705	8.284	0.55643753892962067	0.05385	0.03006	0.07873	N	AEFDBHCI	0.063853	0.12364	N	-1.53604031898597	0.01618	0.07072133	-1.66313067783111	0.01309	0.05907979	0.999999998335067	0.74766	0.67177	0.52595	0	0.672317	0.65289	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	2.76	-5.53	0.02351	-0.595000	0.05822	.	.	0.447000	0.21209	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.11:0.5672:0.1517:0.1711	4.091	0.09446	934	0.15400	.;.;.	.	.	.	.	rs145653234	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.09524	11075.9	99	chr6	31269985	.	C	T	11075.9	.	AC=4;AF=0.095;AN=42;BaseQRankSum=-7.790e-01;DP=2803;ExcessHet=0.0082;FS=1.816;InbreedingCoeff=0.4474;MLEAC=4;MLEAF=0.095;MQ=57.00;MQRankSum=-5.656e+00;QD=26.37;ReadPosRankSum=0.165;SOR=0.777	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,134:134:99:1|1:31269983_C_T:5989,403,0:31269983	18	1	2	0
chr6	31270037	31270037	-	GGACAGCCAGGACAGCTG	exonic	HLA-C	.	nonframeshift insertion	HLA-C:NM_001243042:exon5:c.943_944insCAGCTGTCCTGGCTGTCC:p.G314_L315insPAVLAV	.	.	12	1426	78	6	0	90	0.0305914	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0083	0.0444	0.0068	0	0.0023	0.0058	0.0116	0.0031	0.0006916	18	26028	rs148706212	1.686e-05	0.0015	1.28e-05	2.105e-05	0.0003	9.41e-06	7.25e-06	0.0001	6.813e-05	0.0003	0	0	0	7.638e-05	0	7.971e-06	0	5.504e-05	1.542e-05	0.0032	2.954e-05	0	7.854e-05	0	0	.	.	7.854e-05	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09524	10602.86	112	chr6	31270037	.	A	AGGACAGCCAGGACAGCTG	10602.86	.	AC=4;AF=0.095;AN=42;BaseQRankSum=1.41;DP=2922;ExcessHet=0.0082;FS=1.277;InbreedingCoeff=0.4474;MLEAC=4;MLEAF=0.095;MQ=57.91;MQRankSum=-5.782e+00;QD=27.61;ReadPosRankSum=0.098;SOR=0.767	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,131:131:99:1|1:31269983_C_T:5895,394,0:31269983	18	1	2	0
chr6	31270044	31270044	C	A	exonic	HLA-C	.	nonsynonymous SNV	HLA-C:NM_001243042:exon5:c.G937T:p.A313S	.	.	8	1430	78	6	0	90	0.0305085	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.996	D	0.989	D	0.131	U	1.000	N	2.365	M	5.58	T	-0.947	T	0.005	T	0.451	0.465	6.526	1.75	0.672	1.069	7.416	0.083	.	.	0.0209665	0.0084	0.0454	0.0069	0	0.0026	0.0058	0.0093	0.0031	0.0047641	124	26028	rs41545712	2.854e-05	0.0015	2.303e-05	3.42e-05	0.0005	1.868e-05	1.595e-05	0.0002	0.0001	0.0005	0.0002	0	0	0	0	1.116e-05	0	0.0002	0	0.0034	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.014	0.53172	D	0.029	0.54541	D	0.996	0.68779	D	0.989	0.78396	D	0.131306	0.18627	U	0.374715	1	0.08975	N	.	.	.	5.57	0.00853	T	-1.44	0.35991	N	0.144	0.14763	-0.9472	0.41448	T	0.005	0.01833	T	10	0.0030748248	0.00051	T	.	.	.	0.083	0.24192	.	.	0.269111216191	0.26524	0.1421143076834137	0.14134	1.33609069953	0.83747	0.211957156658	0.00897	T	0.028319	0.20539	T	-0.492036	0.00633	T	-0.426902	0.30286	T	0.0487267516968755	0.05274	T	0.611339	0.23205	T	.	.	.	.	.	.	.	.	-8.281	0.62969	D	.	.	0.131	0.31633	B	.;.;.	.;.;.	2.795962	0.36766	20.3	0.47016589134919956	0.03811	0.09575	0.15300	N	AEFBHCI	0.067665	0.13312	N	-0.316326039818362	0.28527	1.574243	-0.572322111535915	0.20216	1.088159	0.999995248611718	0.74766	0.67177	0.52595	0	0.672317	0.65289	0	0.643519	0.47002	0	0.711	0.71501	0	.	.	2.67	1.75	0.23707	0.708000	0.25393	.	.	0.539000	0.25131	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.0:0.7284:0.2716:0.0	7.416	0.26217	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	0.09524	9279.9	112	chr6	31270044	.	C	A	9279.9	.	AC=4;AF=0.095;AN=42;BaseQRankSum=0.835;DP=2882;ExcessHet=0.0082;FS=1.783;InbreedingCoeff=0.4474;MLEAC=4;MLEAF=0.095;MQ=58.14;MQRankSum=-5.502e+00;QD=25.64;ReadPosRankSum=0.594;SOR=0.801	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,111:111:99:1|1:31269983_C_T:4995,334,0:31269983	18	1	2	0
chr6	31270056	31270056	T	A	exonic	HLA-C	.	nonsynonymous SNV	HLA-C:NM_001243042:exon5:c.A925T:p.M309L	.	.	81	51	300	1006	84	2396	0.957746	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.0	B	0.0	B	.	.	1.000	N	1.575	L	5.84	T	-1.004	T	0.001	T	0.425	-0.069	3.663	-3.63	-1.536	-2.290	10.581	0.120	.	.	0.0177716	0.0078	0.0433	0.0067	0.0001	0.0026	0.0052	0.0092	0.0028	0.0070245	1086	154602	rs1050180	2.484e-05	0.0016	2.064e-05	2.915e-05	0.0005	1.588e-05	1.28e-05	0.0002	0.0002	0.0005	0.0001	0	0	0	0	1.125e-05	0	0.0001	3.397e-05	0.0042	3.245e-05	3.565e-05	8.98e-05	5.64e-06	2.11e-06	.	.	8.98e-05	0	0	0	0	0	0	3.028e-05	0	0	0.018	0.50676	D	0.125	0.36101	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	.	.	.	5.82	0.00657	T	-0.4	0.14978	N	0.067	0.04307	-1.0040	0.28755	T	0.001	0.00378	T	9	0.0030311644	0.00050	T	.	.	.	0.120	0.33359	0.407	0.44066	0.0762999501168	0.06990	0.10785664231938592	0.10714	0.459405056151	0.45523	0.250036120415	0.03772	T	0.006007	0.05450	T	-0.585568	0.00178	T	-0.561255	0.16258	T	0.00351274895036235	0.00037	T	0.210379	0.02537	T	.	.	.	.	.	.	.	.	-5.459	0.41483	T	.	.	0.115	0.25850	B	.;.;.	.;.;.	0.455434	0.08254	4.996	0.33681637653518909	0.02019	0.04374	0.09949	N	AEFBHCI	0.092565	0.18738	N	-1.68195883182571	0.00907	0.0392893	-1.81546310783018	0.00711	0.03167287	0.999999606301239	0.74766	0.67177	0.52595	0	0.672317	0.65289	0	0.643519	0.47002	0	0.711	0.71501	0	.	.	2.67	-3.63	0.04238	-3.041000	0.00696	.	.	-2.073000	0.00407	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.2105:0.0:0.7895	10.581	0.44447	934	0.15400	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.8333	81957.2	114	chr6	31270056	.	T	C,A	81957.2	.	AC=33,4;AF=0.786,0.095;AN=42;BaseQRankSum=-1.136e+00;DP=2977;ExcessHet=1.1607;FS=0.717;InbreedingCoeff=-0.1351;MLEAC=33,4;MLEAF=0.786,0.095;MQ=59.64;MQRankSum=0.00;QD=28.32;ReadPosRankSum=0.291;SOR=0.773	GT:AD:DP:GQ:PGT:PID:PL:PS	2|2:0,0,104:104:99:1|1:31269983_C_T:4680,4680,4680,313,313,0:31269983	0	13	5	0
chr6	31270058	31270058	A	T	exonic	HLA-C	.	nonsynonymous SNV	HLA-C:NM_001243042:exon5:c.T923A:p.I308N	.	.	12	1426	78	6	0	90	0.0305914	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.009	B	0.016	B	.	.	1.000	N	1.98	M	5.57	T	-0.921	T	0.001	T	0.393	-0.097	3.526	-3.55	-0.726	-0.084	0.327	0.099	.	.	0.0177716	0.0074	0.0413	0.0064	0	0.0023	0.0048	0.0094	0.0028	0.0067399	1042	154602	rs1065600	2.596e-05	0.0015	1.792e-05	3.422e-05	0.0005	1.695e-05	1.377e-05	0.0002	0.0001	0.0005	0.0001	0	0	0	0	1.116e-05	0	0.0001	3.11e-05	0.0036	2.984e-05	3.246e-05	8.032e-05	5.16e-06	1.93e-06	.	.	8.032e-05	0	0	0	0	0	0	2.806e-05	0	0	0.018	0.50676	D	0.115	0.36901	T	0.009	0.15093	B	0.016	0.17743	B	.	.	.	.	1	0.08975	N	.	.	.	5.57	0.00885	T	-2.98	0.63901	D	0.388	0.43126	-0.9207	0.45458	T	0.001	0.00408	T	9	0.0062720776	0.00141	T	.	.	.	0.099	0.28413	.	.	0.218845423259	0.21516	0.2566185313009967	0.25575	0.884575161911	0.69923	0.31632065773	0.12863	T	0.076917	0.35532	T	-0.5501	0.00291	T	-0.510308	0.21283	T	0.0162875932992256	0.00399	T	0.744226	0.36418	T	.	.	.	.	.	.	.	.	-11.318	0.81373	D	.	.	0.165	0.37063	B	.;.;.	.;.;.	1.685546	0.21476	15.22	0.38430128270477487	0.02591	0.04413	0.10003	N	AEFBHCI	0.090071	0.18254	N	-1.08415255846282	0.06935	0.3206675	-1.2503667729414	0.05126	0.2434891	0.999998478398119	0.74766	0.67177	0.52595	0	0.672317	0.65289	0	0.643519	0.47002	0	0.711	0.71501	0	.	.	2.67	-3.55	0.04343	-0.480000	0.06639	.	.	-0.116000	0.14526	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.332:0.2018:0.2683:0.1978	0.327	0.00290	934	0.15400	.;.;.	.	.	.	.	rs182216723	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.09524	8989.9	96	chr6	31270058	.	A	T	8989.9	.	AC=4;AF=0.095;AN=42;BaseQRankSum=3.96;DP=2562;ExcessHet=0.0082;FS=0.397;InbreedingCoeff=0.4474;MLEAC=4;MLEAF=0.095;MQ=58.57;MQRankSum=-4.898e+00;QD=25.40;ReadPosRankSum=2.01;SOR=0.728	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,104:104:99:1|1:31269983_C_T:4680,313,0:31269983	18	1	2	0
chr6	31271082	31271082	G	C	exonic	HLA-C	.	nonsynonymous SNV	HLA-C:NM_001243042:exon3:c.C610G:p.Q204E	.	.	0	1440	82	0	0	82	0.027684	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.0	B	0.002	B	0.066	U	0.993	N	1.595	L	9.55	T	-0.919	T	0.000	T	0.506	0.737	7.911	1.64	0.606	1.230	5.117	0.040	0.00176875394672	.	.	0.0012	0.0025	0.0003	0	0.0008	0.0012	0	0.0018	0.0011449	177	154602	rs796429498	0.0002	0.0006	0.0001	0.0002	0.0007	0.0001	0.0001	0.0003	0.0003	0.0006	0.0003	0.0005	0	0	0.0007	0.0001	0.0002	0.0001	1.508e-05	0.0004	0	3.15e-05	7.378e-05	0	0	.	.	7.378e-05	0	0	0	0	0	0	0	0	0	0.012	0.63226	D	0.137	0.33894	T	0.0	0.02946	B	0.002	0.06944	B	0.065850	0.02193	U	2.663580	0.995838	0.23771	N	.	.	.	9.55	0.00007	T	-1.96	0.46503	N	0.037	0.01498	-0.9192	0.45662	T	0.000	0.00039	T	10	0.03142172	0.01277	T	0.001769	0.03012	T	0.198	0.48105	.	.	0.264547087235	0.26054	0.06743973031026444	0.06681	0.534207440331	0.50835	0.27684956789	0.07057	T	0.037706	0.24575	T	-0.155279	0.27488	T	-0.460824	0.26509	T	0.0457982197301059	0.04748	T	0.158184	0.01407	T	.	.	.	.	.	.	.	.	-11.787	0.83797	D	.	.	0.098	0.16275	B	.;.;.	.;.;.	1.963241	0.24940	16.58	0.64928230975864176	0.07629	0.20245	0.20969	N	AEFBHCI	0.099613	0.20048	N	-0.567676259610921	0.19933	1.047056	-0.569709590382082	0.20285	1.092179	0.999994312471089	0.74766	0.766844	0.99359	0	0.672317	0.65289	0	0.851219	0.99655	0	0.638787	0.57140	0	.	.	2.55	1.64	0.22949	0.047000	0.13941	.	.	0.594000	0.32500	0.047000	0.21291	0.000000	0.08366	0.076000	0.17014	0.0:0.2329:0.529:0.2381	5.117	0.14173	934	0.15400	.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09524	2141.92	147	chr6	31271082	.	G	C	2141.92	.	AC=4;AF=0.095;AN=42;BaseQRankSum=-2.130e-01;DP=2900;ExcessHet=0.6776;FS=5.478;InbreedingCoeff=-0.1053;MLEAC=4;MLEAF=0.095;MQ=55.53;MQRankSum=-7.176e+00;QD=3.37;ReadPosRankSum=-2.537e+00;SOR=1.313	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:115,41:156:99:0|1:31271082_G_C:1376,0,4627:31271082	17	0	4	0
chr6	31271089	31271089	C	G	exonic	HLA-C	.	nonsynonymous SNV	HLA-C:NM_001243042:exon3:c.G603C:p.E201D	.	.	0	1433	89	0	0	89	0.0301184	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.0	B	0.002	B	0.463	N	0.999	N	-2.35	N	5.65	T	-0.906	T	0.000	T	0.535	0.967	8.944	0.453	0.101	-3.936	10.048	0.026	0.00327990498179	.	.	0.0012	0.0025	0.0003	0	0.0008	0.0012	0	0.0018	0.0011319	175	154602	rs17413678	0.0001	0.0006	0.0001	0.0002	0.0007	0.0001	0.0001	0.0004	0.0003	0.0007	0.0002	0.0005	0	3.395e-05	0.0003	0.0001	7.186e-05	0.0001	1.497e-05	0.0004	0	3.125e-05	7.252e-05	0	0	.	.	7.252e-05	0	0	0	0	0	0	0	0	0	0.014	0.59928	D	0.214	0.26549	T	0.0	0.02946	B	0.001	0.06944	B	0.463348	0.04883	N	1.613380	0.999565	0.21423	N	.	.	.	5.65	0.00784	T	-1.57	0.38924	N	0.068	0.04072	-0.9059	0.47343	T	0.000	0.00114	T	10	0.017638266	0.00378	T	0.00328	0.07268	T	0.222	0.51872	0.525	0.62967	0.18995819373	0.18626	0.10834935616144864	0.10763	0.446550992324	0.44524	0.299512207508	0.10328	T	0.039277	0.25133	T	-0.20222	0.20483	T	-0.528252	0.19461	T	0.0309767665415865	0.02142	T	0.309269	0.05988	T	.	.	.	.	.	.	.	.	-5.958	0.45926	T	.	.	0.112	0.25166	B	.;.;.	.;.;.	1.120113	0.15057	11.55	0.64405259372860457	0.07484	0.02110	0.06246	N	AEFBHCI	0.074243	0.14875	N	-1.34702669488082	0.03156	0.1405097	-1.25390729222346	0.05073	0.2408863	0.999991424455028	0.74766	0.766844	0.99359	0	0.672317	0.65289	0	0.851219	0.99655	0	0.638787	0.57140	0	.	.	2.55	0.453	0.15851	-2.693000	0.00901	.	.	-0.340000	0.05703	0.000000	0.06391	0.000000	0.08366	0.015000	0.10482	0.0:0.3625:0.6374:0.0	10.048	0.41370	934	0.15400	MHC class I-like antigen recognition-like;MHC class I-like antigen recognition-like;MHC class I-like antigen recognition-like	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09524	2332.92	147	chr6	31271089	.	C	G	2332.92	.	AC=4;AF=0.095;AN=42;BaseQRankSum=0.706;DP=2932;ExcessHet=0.6776;FS=5.226;InbreedingCoeff=-0.1053;MLEAC=4;MLEAF=0.095;MQ=55.19;MQRankSum=-6.869e+00;QD=3.53;ReadPosRankSum=-1.531e+00;SOR=1.243	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:117,44:161:99:0|1:31271082_G_C:1471,0,4691:31271082	17	0	4	0
chr6	31271153	31271153	A	0	exonic	HLA-C	.	.	.	.	.	0	22	11	0	193	204	0.2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	37138.39	180	chr6	31271153	.	A	C,T,*	37138.39	.	AC=19,1,4;AF=0.452,0.024,0.095;AN=42;BaseQRankSum=3.30;DP=3892;ExcessHet=30.0624;FS=1.107;InbreedingCoeff=-0.7500;MLEAC=19,1,4;MLEAF=0.452,0.024,0.095;MQ=52.03;MQRankSum=-2.061e+00;QD=9.74;ReadPosRankSum=-8.020e-01;SOR=0.601	GT:AD:DP:GQ:PGT:PID:PL:PS	0|3:114,0,0,83:197:99:0|1:31271151_TCA_T:3142,3485,8227,3485,8227,8227,0,4741,4741,4492:31271151	0	0	16	0
chr6	31271193	31271193	T	A	exonic	HLA-C	.	nonsynonymous SNV	HLA-C:NM_001243042:exon3:c.A499T:p.T167S	.	.	1	1405	114	2	0	118	0.0403005	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.026	B	0.041	B	0.140	U	1.000	N	1.745	L	5.52	T	-0.928	T	0.002	T	0.497	1.648	11.47	2.81	1.536	1.002	9.364	0.125	.	.	0.0335463	0.0171	0.0612	0.0102	0.0111	0.0070	0.0151	0.0148	0.0119	0.0013454	208	154602	rs142570222	0.0020	0.0089	0.0018	0.0022	0.0212	0.0019	0.0019	0.0195	0.0188	0.0212	0.0050	0.0157	0.0004	0.0009	0.0146	0.0010	0.0035	0.0035	0.0002	0.0092	0.0002	0.0003	0.0009	0.0001	0.0001	0.0005	0.0004	0.0009	0	0	0	0	0	0	8.097e-05	0	0	0.022	0.48642	D	0.207	0.27145	T	0.026	0.19406	B	0.041	0.23986	B	0.140159	0.18319	U	0.377560	1	0.08975	N	.	.	.	5.52	0.00903	T	-2.36	0.53577	N	0.201	0.22228	-0.9276	0.44487	T	0.002	0.00585	T	10	0.0053441823	0.00117	T	.	.	.	0.125	0.34456	0.712	0.84781	.	.	0.21857788014369137	0.21773	0.461279298288	0.45672	0.424038767815	0.28393	T	0.069533	0.33733	T	-0.490069	0.00649	T	-0.465695	0.25983	T	0.0170237571897238	0.00451	T	0.0849915	0.00624	T	.	.	.	.	.	.	.	.	-6.826	0.52752	T	.	.	0.169	0.37083	B	.;.;.	.;.;.	1.512869	0.19433	14.26	0.6761150136827524	0.08406	0.24039	0.22268	N	AEFDGBHCI	0.169307	0.29613	N	-0.613024539942439	0.18552	0.9640867	-0.655505705163185	0.18078	0.9641463	0.999999998364993	0.74766	0.766844	0.99359	0	0.672317	0.65289	0	0.851219	0.99655	0	0.638787	0.57140	0	.	.	2.81	2.81	0.31971	1.346000	0.33569	.	.	-0.845000	0.02763	0.968000	0.34134	0.000000	0.08366	0.003000	0.05239	0.0:0.0:0.0:1.0	9.364	0.37375	934	0.15400	MHC class I-like antigen recognition-like;MHC class I-like antigen recognition-like;MHC class I-like antigen recognition-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	0.07143	7388.68	177	chr6	31271193	.	T	A	7388.68	.	AC=3;AF=0.071;AN=42;BaseQRankSum=2.59;DP=3586;ExcessHet=0.3300;FS=1.106;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=49.38;MQRankSum=-2.164e+00;QD=13.29;ReadPosRankSum=-2.522e+00;SOR=0.581	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:70,125:195:99:.:.:3582,0,2554	18	0	3	0
chr6	31271337	31271337	G	0	exonic	HLA-C	.	.	.	.	.	86	537	715	64	120	963	0.43975	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	17754.15	108	chr6	31271337	.	G	T,*	17754.15	.	AC=13,1;AF=0.310,0.024;AN=42;BaseQRankSum=-1.740e-01;DP=1928;ExcessHet=2.0984;FS=6.544;InbreedingCoeff=-0.0716;MLEAC=13,1;MLEAF=0.310,0.024;MQ=56.58;MQRankSum=-3.890e+00;QD=13.85;ReadPosRankSum=-1.971e+00;SOR=1.165	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,89,0:89:99:1|1:31271324_G_T:3998,268,0,3998,268,3998:31271324	9	2	9	0
chr6	31272002	31272002	C	T	exonic	HLA-C	.	nonsynonymous SNV	HLA-C:NM_001243042:exon1:c.G70A:p.A24T	.	.	7	1505	10	0	0	10	0.00331126	.	.	2822861	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0	D	0.997	D	0.996	D	.	.	1.000	N	2.825	M	5.47	T	-0.940	T	0.165	T	0.566	2.850	15.49	3.24	1.826	1.756	10.107	0.082	0.00749124753525	.	0.00339457	0.0029	0.0021	0.0021	0	0.0011	0.0041	0.0012	0.0016	0.0024773	383	154602	rs41553415	0.0013	0.0037	0.0012	0.0013	0.0059	0.0012	0.0012	0.0038	0.0032	0.0011	0.0016	0.0115	0	0.0008	0.0059	0.0011	0.0019	0.0010	0.0015	0.0036	0.0016	0.0014	0.0017	0.0013	0.0012	0.0014	0.0013	0.0009	0	0.0015	0.0092	0	0	0.0048	0.0017	0.0018	0.0008	0.0	0.91255	D	0.007	0.69154	D	0.997	0.70673	D	0.996	0.84481	D	.	.	.	.	0.999999	0.08975	N	.	.	.	5.45	0.00969	T	-1.81	0.45404	N	0.303	0.34228	-0.9400	0.42616	T	0.165	0.50258	T	9	0.005843401	0.00130	T	0.007491	0.19872	T	0.122	0.33800	.	.	0.20549828249	0.20151	0.18112102445038905	0.18031	0.501882001943	0.48560	0.328933656216	0.14773	T	0.029397	0.21072	T	-0.399396	0.02336	T	-0.342755	0.40032	T	0.0948244442505244	0.11777	T	0.782222	0.41780	T	.	.	.	.	.	.	.	.	-7.815	0.59802	D	.	.	0.128	0.36811	B	.;.	.;.	3.047363	0.40881	21.3	0.98878135208607609	0.47771	0.04658	0.10332	N	AEFGBHCIJ	0.110950	0.21984	N	-0.253284953467373	0.30972	1.732149	-0.429131982575314	0.24147	1.320662	0.999999996066341	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	3.24	3.24	0.36257	0.109000	0.15252	.	.	0.539000	0.25131	0.000000	0.06391	0.000000	0.08366	0.009000	0.08673	0.0:1.0:0.0:0.0	10.107	0.41710	934	0.15400	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1822.98	109	chr6	31272002	.	C	T	1822.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.45;DP=2105;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.02;ReadPosRankSum=0.075;SOR=0.751	GT:AD:DP:GQ:PL	0/1:70,70:140:99:1837,0,1730	20	0	1	0
chr6	31356181	31356181	T	0	exonic	HLA-B	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.9048	57800.2	50	chr6	31356181	.	T	G,*	57800.2	.	AC=38,3;AF=0.905,0.071;AN=42;BaseQRankSum=1.60;DP=1491;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=38,3;MLEAF=0.905,0.071;MQ=50.44;MQRankSum=-8.849e+00;QD=30.79;ReadPosRankSum=-3.020e+00;SOR=0.902	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,114,0:114:99:1|1:31356168_A_C:5006,343,0,5006,343,5006:31356168	0	17	1	0
chr6	31356247	31356247	C	0	exonic	HLA-B	.	.	.	.	.	27	191	3	0	1301	1304	0.00779221	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	21954.91	76	chr6	31356247	.	C	A,*	21954.91	.	AC=18,9;AF=0.429,0.214;AN=42;BaseQRankSum=5.54;DP=2356;ExcessHet=8.1482;FS=3.246;InbreedingCoeff=-0.3481;MLEAC=18,9;MLEAF=0.429,0.214;MQ=47.98;MQRankSum=-2.470e+00;QD=9.84;ReadPosRankSum=-1.782e+00;SOR=0.789	GT:AD:DP:GQ:PGT:PID:PL:PS	1/2:0,40,100:140:99:.:.:5496,4222,4067,1065,0,1422	1	0	12	0
chr6	31356431	31356431	G	0	exonic	HLA-B	.	.	.	.	.	137	311	365	102	607	1176	0.47775	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5714	9973.12	43	chr6	31356431	.	G	T,*	9973.12	.	AC=16,13;AF=0.381,0.310;AN=42;BaseQRankSum=1.15;DP=1007;ExcessHet=1.3217;FS=1.278;InbreedingCoeff=-0.0027;MLEAC=16,13;MLEAF=0.381,0.310;MQ=57.28;MQRankSum=-3.660e-01;QD=10.84;ReadPosRankSum=0.037;SOR=0.834	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:31,0,35:66:99:0|1:31356417_G_A:1376,1470,2761,0,1291,1186:31356417	2	3	5	0
chr6	31356748	31356750	CCT	0	exonic	HLA-B	.	.	.	.	.	92	56	75	5	1294	1379	0.431472	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.9762	858.89	101	chr6	31356748	.	CCT	*,C	858.89	.	AC=41,1;AF=0.976,0.024;AN=42;DP=2084;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=NaN;MLEAC=41,1;MLEAF=0.976,0.024;MQ=54.46;QD=0.42;SOR=1.514	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,126,0:126:99:1|1:31356739_C_A:5650,379,0,5650,379,5650:31356739	0	20	0	0
chr6	31356827	31356827	T	0	exonic	HLA-B	.	.	.	.	.	73	133	388	93	835	1409	0.683333	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7857	29744.11	115	chr6	31356827	.	T	C,*	29744.11	.	AC=12,23;AF=0.286,0.548;AN=42;DP=3294;ExcessHet=2.5830;FS=0.696;InbreedingCoeff=-0.2000;MLEAC=12,23;MLEAF=0.286,0.548;MQ=51.01;QD=9.20;SOR=0.781	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,149,0:149:99:1|1:31356809_C_T:6624,448,0,6624,448,6624:31356809	0	5	0	0
chr6	31412384	31412384	G	0	exonic;splicing	MICA;MICA	NM_000247:exon6:c.949-1G>0	.	.	.	.	0	10	88	27	101	243	0.876543	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5476	28073.94	58	chr6	31412384	.	G	GCT,*,GCTGCTGCTGCT	28073.94	.	AC=14,13,5;AF=0.333,0.310,0.119;AN=42;BaseQRankSum=1.31;DP=1521;ExcessHet=0.2067;FS=0.000;InbreedingCoeff=0.2125;MLEAC=14,13,5;MLEAF=0.333,0.310,0.119;MQ=60.00;MQRankSum=0.00;QD=21.78;ReadPosRankSum=-1.530e-01;SOR=0.813	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,85,0,0:85:99:.:.:3738,256,0,3739,256,3739,3739,256,3739,3739	2	2	2	0
chr6	31625601	31625601	T	C	exonic	PRRC2A	.	nonsynonymous SNV	PRRC2A:NM_004638:exon7:c.T749C:p.M250T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.985	D	0.637	P	0.000	D	0.995	D	1.495	L	4.53	T	-0.837	T	0.008	T	0.68	1.237	10.02	5.06	2.122	3.154	13.917	0.142	0.0178076993305	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.022e-07	6.841e-07	0	1.42e-06	9.161e-07	0	0	.	.	0	0	0	0	0	0	9.161e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.16	0.31427	T	0.985	0.61118	D	0.637	0.51992	P	0.000005	0.62929	D	0.000000	0.995498	0.42717	D	2.105	0.58435	M	4.53	0.01980	T	-4.28	0.76334	D	0.586	0.61680	-0.8368	0.52858	T	0.008	0.02720	T	10	0.43278176	0.57599	T	0.017808	0.39652	T	0.142	0.37995	0.195	0.10705	0.128874641272	0.12493	0.5487022548939708	0.54796	0.180877748463	0.20346	0.868078529835	0.92292	D	0.045246	0.27062	T	-0.000470291	0.51590	T	-0.238452	0.50949	T	0.941546738147736	0.61490	D	0.757724	0.38135	T	0.6803623	0.76989	0.726591	0.83849	0.6803623	0.76990	0.726591	0.83850	-10.319	0.75799	D	.	.	0.987	0.96107	P	.;.	.;.	3.901954	0.56841	23.8	0.93194787374129984	0.22862	0.76208	0.37359	D	AEFDBCI	0.190166	0.31740	N	0.457200889062192	0.64613	4.719805	0.475887910268732	0.66395	4.94659	0.999999757296763	0.74766	0.706548	0.73137	0	0.697927	0.68747	0	0.697927	0.64325	0	0.714379	0.83352	0	.	.	5.06	5.06	0.67838	3.242000	0.51082	.	.	0.639000	0.52094	1.000000	0.71638	1.000000	0.68203	0.982000	0.59238	0.0:0.0:0.0:1.0	13.917	0.63410	878	0.29785	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.5	9616.67	116	chr6	31625601	.	T	C	9616.67	.	AC=19;AF=0.500;AN=38;BaseQRankSum=-3.022e+00;DP=2814;ExcessHet=36.0830;FS=243.392;InbreedingCoeff=-0.8806;MLEAC=20;MLEAF=0.526;MQ=59.99;MQRankSum=0.00;QD=3.79;ReadPosRankSum=1.23;SOR=12.814	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:117,29:146:99:0|1:31625601_T_C:122,0,3674:31625601	0	0	19	2
chr6	31625602	31625602	G	A	exonic	PRRC2A	.	nonsynonymous SNV	PRRC2A:NM_004638:exon7:c.G750A:p.M250I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.817	P	0.292	B	0.000	D	0.999	D	1.295	L	4.62	T	-0.628	T	0.004	T	0.668	2.651	14.83	5.06	2.628	4.365	17.348	0.179	0.0251130273271	7.7e-05	.	1.784e-05	0.0002	0	0	0	0	0	0	1.29e-05	2	154602	rs145609055	3.51e-06	4.788e-06	5.554e-06	1.42e-06	0.0001	1.03e-06	7.5e-07	4.163e-05	2.527e-05	0.0001	0	0	0	0	0	9.159e-07	0	0	6.577e-06	6.567e-06	1.286e-05	0	2.417e-05	0	0	.	.	2.417e-05	0	0	0	0	0	0	0	0	0	0.123	0.27544	T	0.045	0.49390	D	0.817	0.45613	P	0.292	0.40739	B	0.000005	0.62929	D	0.000000	0.999301	0.46608	D	2.105	0.58435	M	4.62	0.01834	T	-1.88	0.43906	N	0.361	0.40565	-0.6283	0.63643	T	0.004	0.01400	T	10	0.19789547	0.35739	T	0.025113	0.48090	D	0.179	0.44899	0.192	0.10304	0.19168177325	0.18762	0.40434125802200627	0.40350	0.17321795193	0.19509	0.804894983768	0.82710	D	0.021964	0.17018	T	-0.199437	0.20885	T	-0.287586	0.46022	T	0.45686399936676	0.31050	T	0.867413	0.56831	D	0.274247	0.50490	0.26731342	0.52588	0.274247	0.50490	0.26731342	0.52587	-5.343	0.40366	T	.	.	0.916	0.88221	P	.;.	.;.	4.189641	0.63134	24.5	0.9887765022119781	0.47771	0.95609	0.65407	D	AEFDBCI	0.573860	0.57688	D	0.38079905834961	0.60382	4.226512	0.455960616804997	0.65101	4.781292	0.999999999999631	0.74766	0.706548	0.73137	0	0.697927	0.68747	0	0.697927	0.64325	0	0.714379	0.83352	0	.	.	5.06	5.06	0.67838	3.736000	0.54774	.	.	0.650000	0.52971	1.000000	0.71638	1.000000	0.68203	0.970000	0.54328	0.0:0.0:1.0:0.0	17.348	0.87202	878	0.29785	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.5	12029.36	116	chr6	31625602	.	G	A,C	12029.36	.	AC=18,1;AF=0.474,0.026;AN=38;BaseQRankSum=-3.662e+00;DP=2814;ExcessHet=36.0830;FS=285.280;InbreedingCoeff=-0.9091;MLEAC=19,1;MLEAF=0.500,0.026;MQ=59.99;MQRankSum=0.00;QD=4.75;ReadPosRankSum=1.13;SOR=13.038	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:97,52,0:149:99:0|1:31625601_T_C:920,0,2365,1197,2515,3712:31625601	0	0	18	2
chr6	31625602	31625602	G	C	exonic	PRRC2A	.	nonsynonymous SNV	PRRC2A:NM_004638:exon7:c.G750C:p.M250I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.817	P	0.292	B	0.000	D	0.999	D	1.295	L	4.62	T	-0.628	T	0.004	T	0.668	2.530	14.42	5.06	2.628	4.365	17.348	0.179	0.0240778972107	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.123	0.27544	T	0.045	0.49390	D	0.817	0.45613	P	0.292	0.40739	B	0.000005	0.62929	D	0.000000	0.999345	0.46733	D	2.105	0.58435	M	4.62	0.01834	T	-1.88	0.43906	N	0.361	0.40565	-0.6283	0.63643	T	0.004	0.01400	T	10	0.2299856	0.39939	T	0.024078	0.47063	T	0.179	0.44899	0.192	0.10304	0.187035705434	0.18338	0.40434127179304075	0.40350	0.17321795193	0.19509	0.804894983768	0.82710	D	0.021964	0.17018	T	-0.0346369	0.46741	T	-0.28753	0.46029	T	0.797656714916229	0.46194	D	0.867413	0.56831	D	0.274247	0.50490	0.26731342	0.52588	0.274247	0.50490	0.26731342	0.52587	-5.343	0.40366	T	.	.	0.916	0.88221	P	.;.	.;.	4.164074	0.62562	24.5	0.98851704410504837	0.47305	0.96934	0.71741	D	AEFDBCI	0.644900	0.62099	D	0.38079905834961	0.60382	4.226512	0.455960616804997	0.65101	4.781292	0.999999999999631	0.74766	0.706548	0.73137	0	0.697927	0.68747	0	0.697927	0.64325	0	0.714379	0.83352	0	.	.	5.06	5.06	0.67838	3.736000	0.54774	.	.	0.650000	0.52971	1.000000	0.71638	1.000000	0.68203	0.970000	0.54328	0.0:0.0:1.0:0.0	17.348	0.87202	878	0.29785	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.5	12029.36	116	chr6	31625602	.	G	A,C	12029.36	.	AC=18,1;AF=0.474,0.026;AN=38;BaseQRankSum=-3.662e+00;DP=2814;ExcessHet=36.0830;FS=285.280;InbreedingCoeff=-0.9091;MLEAC=19,1;MLEAF=0.500,0.026;MQ=59.99;MQRankSum=0.00;QD=4.75;ReadPosRankSum=1.13;SOR=13.038	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:97,52,0:149:99:0|1:31625601_T_C:920,0,2365,1197,2515,3712:31625601	0	0	18	2
chr6	32041911	32041911	C	T	exonic	TNXB	.	nonsynonymous SNV	TNXB:NM_032470:exon12:c.G1780A:p.G594S	Ehlers-Danlos syndrome due to tenascin X deficiency, Autosomal recessive;Vesicoureteral reflux 8, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	2414171	Vesicoureteral_reflux_8|not_provided	MONDO:MONDO:0014422,MedGen:C4014831,OMIM:615963,Orphanet:289365|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.05	D	1.0	D	0.999	D	0.000	D	1.000	D	1.76	L	-4.48	D	0.983	D	0.902	D	0.372	4.262	22.2	4.69	2.454	1.762	10.250	0.586	0.199805592016	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1172643715	2.412e-05	2.8e-05	3.644e-05	1.307e-05	6.524e-05	1.399e-05	1.094e-05	2.222e-05	1.325e-05	0	0	0	6.274e-05	0	0	2.281e-05	0	6.524e-05	2.196e-05	3.434e-05	4.049e-05	0	0.0003	3.65e-06	1.37e-06	.	.	0	0	0	0	0.0003	0	0	2.346e-05	0	0	0.0	0.91255	D	0.004	0.74150	D	.	.	.	.	.	.	0.000094	0.51296	D	0.000000	0.910989	0.47237	D	.	.	.	-4.48	0.97606	D	-3.76	0.82063	D	0.346	0.52475	0.983	0.96907	D	0.902	0.96735	D	10	0.7798842	0.77765	D	0.199806	0.86673	D	0.586	0.83416	.	.	0.790987036813	0.78904	0.385756806340669	0.38490	2.96933213237	0.99172	0.699285507202	0.67041	T	0.111066	0.42626	T	0.198292	0.73732	D	0.0470561	0.73390	D	0.971623063087463	0.69388	D	0.887111	0.62511	D	0.6876782	0.77385	0.5944096	0.76456	0.6876782	0.77387	0.5944096	0.76457	-6.371	0.49283	T	0.12374704874656832	0.12038	0.315	0.56722	B	.;.;.;.;.	.;.;.;.;.	5.065184	0.84448	28.3	0.99822850304253674	0.90590	0.82093	0.41374	D	AEFGI	0.457018	0.50864	N	0.518099191109059	0.68161	5.179197	0.469024873802736	0.65947	4.888676	0.887321095711896	0.25762	0.615465	0.37627	0	0.588015	0.36545	0	0.658983	0.55881	0	0.613276	0.41899	0	.	.	4.69	4.69	0.58546	2.071000	0.41125	.	.	0.594000	0.32500	0.908000	0.31627	0.999000	0.35428	0.972000	0.54974	0.0:0.9078:0.0:0.0922	10.250	0.42542	923	0.18507	Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain;.;Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain;.;Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	54.18	21	chr6	32041911	.	C	T	54.18	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.73;DP=314;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0360;MLEAC=1;MLEAF=0.024;MQ=34.43;MQRankSum=0.187;QD=4.17;ReadPosRankSum=-1.690e+00;SOR=0.124	GT:AD:DP:GQ:PL	0/1:10,3:13:68:68,0,280	20	0	1	0
chr6	32223891	32223893	AGC	-	exonic	NOTCH4	.	nonframeshift deletion	NOTCH4:NM_004557:exon1:c.36_38del:p.L16del,	.	.	432	105	159	158	668	1143	0.693431	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5714	22774.05	25	chr6	32223881	.	TAGCAGCAGCAGC	TAGCAGCAGC,T,TAGCAGCAGCAGCAGCAGCAGC,TAGCAGCAGCAGCAGC	22774.05	.	AC=10,14,2,6;AF=0.238,0.333,0.048,0.143;AN=42;BaseQRankSum=0.453;DP=1004;ExcessHet=6.1002;FS=1.974;InbreedingCoeff=-0.3125;MLEAC=10,14,2,6;MLEAF=0.238,0.333,0.048,0.143;MQ=60.00;MQRankSum=0.00;QD=28.57;ReadPosRankSum=0.242;SOR=0.872	GT:AD:DP:GQ:PL	0/4:23,0,0,0,21:44:99:775,844,1760,844,1760,1760,844,1760,1760,1760,0,916,916,916,853	0	1	4	0
chr6	32223893	32223893	-	AGCAGCAGC	exonic	NOTCH4	.	nonframeshift insertion	NOTCH4:NM_004557:exon1:c.35_36insGCTGCTGCT:p.L16_C17insLLL,	.	.	432	105	159	158	668	1143	0.693431	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5714	22774.05	25	chr6	32223881	.	TAGCAGCAGCAGC	TAGCAGCAGC,T,TAGCAGCAGCAGCAGCAGCAGC,TAGCAGCAGCAGCAGC	22774.05	.	AC=10,14,2,6;AF=0.238,0.333,0.048,0.143;AN=42;BaseQRankSum=0.453;DP=1004;ExcessHet=6.1002;FS=1.974;InbreedingCoeff=-0.3125;MLEAC=10,14,2,6;MLEAF=0.238,0.333,0.048,0.143;MQ=60.00;MQRankSum=0.00;QD=28.57;ReadPosRankSum=0.242;SOR=0.872	GT:AD:DP:GQ:PL	0/4:23,0,0,0,21:44:99:775,844,1760,844,1760,1760,844,1760,1760,1760,0,916,916,916,853	0	1	4	0
chr6	32223893	32223893	-	AGC	exonic	NOTCH4	.	nonframeshift insertion	NOTCH4:NM_004557:exon1:c.35_36insGCT:p.L16_C17insL,	.	.	432	105	159	158	668	1143	0.693431	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5714	22774.05	25	chr6	32223881	.	TAGCAGCAGCAGC	TAGCAGCAGC,T,TAGCAGCAGCAGCAGCAGCAGC,TAGCAGCAGCAGCAGC	22774.05	.	AC=10,14,2,6;AF=0.238,0.333,0.048,0.143;AN=42;BaseQRankSum=0.453;DP=1004;ExcessHet=6.1002;FS=1.974;InbreedingCoeff=-0.3125;MLEAC=10,14,2,6;MLEAF=0.238,0.333,0.048,0.143;MQ=60.00;MQRankSum=0.00;QD=28.57;ReadPosRankSum=0.242;SOR=0.872	GT:AD:DP:GQ:PL	0/4:23,0,0,0,21:44:99:775,844,1760,844,1760,1760,844,1760,1760,1760,0,916,916,916,853	0	1	4	0
chr6	32521970	32521970	G	0	exonic	HLA-DRB5	.	.	.	.	.	128	791	65	0	538	603	0.0394657	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.381	2340.92	49	chr6	32521970	.	G	GCC,*	2340.92	.	AC=2,14;AF=0.048,0.333;AN=42;BaseQRankSum=4.87;DP=2985;ExcessHet=0.3152;FS=19.972;InbreedingCoeff=0.1923;MLEAC=2,14;MLEAF=0.048,0.333;MQ=57.72;MQRankSum=-1.101e+01;QD=1.39;ReadPosRankSum=-6.282e+00;SOR=1.161	GT:AD:DP:GQ:PGT:PID:PL:PS	2|2:0,0,105:105:99:1|1:32521957_G_A:4724,4724,4724,316,316,0:32521957	9	0	2	0
chr6	32521977	32521978	TG	0	exonic	HLA-DRB5	.	.	.	.	.	68	790	259	133	272	797	0.249406	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4286	31947.07	20	chr6	32521977	.	TG	T,CG,*,TCCG	31947.07	.	AC=10,5,5,2;AF=0.238,0.119,0.119,0.048;AN=42;BaseQRankSum=2.83;DP=2813;ExcessHet=0.0007;FS=6.870;InbreedingCoeff=0.6182;MLEAC=10,5,5,2;MLEAF=0.238,0.119,0.119,0.048;MQ=49.85;MQRankSum=-1.379e+00;QD=24.07;ReadPosRankSum=-3.581e+00;SOR=0.940	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,96,0,0,0:96:99:1|1:32521957_G_A:4320,289,0,4320,289,4320,4320,289,4320,4320,4320,289,4320,4320,4320:32521957	8	2	3	0
chr6	32521978	32521979	GT	0	exonic	HLA-DRB5	.	.	.	.	.	198	662	145	14	503	676	0.115564	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.525	3841.37	20	chr6	32521978	.	GT	G,*	3841.37	.	AC=4,17;AF=0.100,0.425;AN=40;BaseQRankSum=4.25;DP=2847;ExcessHet=0.7352;FS=10.579;InbreedingCoeff=0.1102;MLEAC=4,18;MLEAF=0.100,0.450;MQ=55.69;MQRankSum=-5.960e+00;QD=2.22;ReadPosRankSum=-4.343e+00;SOR=0.885	GT:AD:DP:GQ:PGT:PID:PL:PS	2|2:0,0,96:96:99:1|1:32521957_G_A:4320,4320,4320,289,289,0:32521957	5	0	4	1
chr6	32521981	32521981	T	0	exonic	HLA-DRB5	.	.	.	.	.	195	584	309	195	239	938	0.374397	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.525	29160.55	20	chr6	32521981	.	T	TGC,C,*	29160.55	.	AC=15,3,4;AF=0.375,0.075,0.100;AN=40;BaseQRankSum=0.770;DP=2811;ExcessHet=1.5433;FS=18.058;InbreedingCoeff=0.0082;MLEAC=16,3,4;MLEAF=0.400,0.075,0.100;MQ=49.06;MQRankSum=-4.980e-01;QD=15.25;ReadPosRankSum=-1.678e+00;SOR=1.050	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,95,0,0:95:99:1|1:32521957_G_A:4275,286,0,4275,286,4275,4275,286,4275,4275:32521957	4	5	4	1
chr6	32522104	32522104	G	0	exonic	HLA-DRB5	.	.	.	.	.	223	868	2	0	429	431	0.00115075	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2895	754.62	135	chr6	32522104	.	G	T,*	754.62	.	AC=2,9;AF=0.053,0.237;AN=38;BaseQRankSum=1.88;DP=2410;ExcessHet=0.5777;FS=19.455;InbreedingCoeff=0.1270;MLEAC=2,10;MLEAF=0.053,0.263;MQ=43.31;MQRankSum=-5.040e-01;QD=1.10;ReadPosRankSum=-2.490e+00;SOR=1.779	GT:AD:DP:GQ:PGT:PID:PL:PS	2|2:0,0,20:20:60:1|1:32522075_A_G:900,900,900,60,60,0:32522075	10	0	2	2
chr6	32522156	32522156	T	0	exonic	HLA-DRB5	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3947	50186.86	152	chr6	32522156	.	T	A,G,*,C	50186.86	.	AC=14,6,6,1;AF=0.368,0.158,0.158,0.026;AN=38;BaseQRankSum=-2.391e+00;DP=2479;ExcessHet=0.0000;FS=4.483;InbreedingCoeff=0.8143;MLEAC=15,7,7,1;MLEAF=0.395,0.184,0.184,0.026;MQ=47.59;MQRankSum=-1.347e+01;QD=31.15;ReadPosRankSum=3.03;SOR=0.362	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,53,0,0,0:53:99:1|1:32522156_T_A:2385,160,0,2385,160,2385,2385,160,2385,2385,2385,160,2385,2385,2385:32522156	5	1	0	2
chr6	32522157	32522157	C	0	exonic	HLA-DRB5	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.275	11250.32	146	chr6	32522157	.	C	G,*	11250.32	.	AC=10,6;AF=0.250,0.150;AN=40;BaseQRankSum=-1.800e-01;DP=2451;ExcessHet=0.0017;FS=0.000;InbreedingCoeff=0.5718;MLEAC=10,7;MLEAF=0.250,0.175;MQ=47.72;MQRankSum=-1.968e+00;QD=12.26;ReadPosRankSum=3.14;SOR=0.703	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,53,2:55:76:1|1:32522156_T_A:2385,160,0,2301,76,2295:32522156	10	1	3	1
chr6	32522159	32522159	T	0	exonic	HLA-DRB5	.	.	.	.	.	220	823	360	108	11	587	0.259226	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2619	11366.22	146	chr6	32522159	.	T	*,A	11366.22	.	AC=7,9;AF=0.167,0.214;AN=42;BaseQRankSum=-3.000e-01;DP=2451;ExcessHet=0.0011;FS=0.000;InbreedingCoeff=0.5934;MLEAC=6,10;MLEAF=0.143,0.238;MQ=47.73;MQRankSum=-1.671e+00;QD=12.50;ReadPosRankSum=3.36;SOR=0.678	GT:AD:DP:GQ:PGT:PID:PL:PS	2|2:0,0,54:54:99:1|1:32522156_T_A:2423,2423,2423,163,163,0:32522156	11	0	2	0
chr6	32530183	32530185	CTT	0	exonic	HLA-DRB5	.	.	.	.	.	1	58	89	55	23	222	0.631746	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	14818.53	115	chr6	32530183	.	CTT	*,C	14818.53	.	AC=5,17;AF=0.119,0.405;AN=42;BaseQRankSum=2.59;DP=2163;ExcessHet=0.2144;FS=6.037;InbreedingCoeff=0.1918;MLEAC=5,18;MLEAF=0.119,0.429;MQ=53.28;MQRankSum=-6.845e+00;QD=10.59;ReadPosRankSum=-2.181e+00;SOR=1.086	GT:AD:DP:GQ:PGT:PID:PL:PS	2|2:1,0,34:35:81:1|1:32530183_CTT_C:1505,1508,1530,81,102,0:32530183	6	1	2	0
chr6	32530184	32530184	T	0	exonic	HLA-DRB5	.	.	.	.	.	81	232	140	96	973	1305	0.417085	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7619	37739.64	115	chr6	32530184	.	T	G,*,A	37739.64	.	AC=12,22,3;AF=0.286,0.524,0.071;AN=42;BaseQRankSum=-6.320e-01;DP=2340;ExcessHet=1.1607;FS=2.132;InbreedingCoeff=-0.1351;MLEAC=12,23,2;MLEAF=0.286,0.548,0.048;MQ=55.50;MQRankSum=0.00;QD=16.93;ReadPosRankSum=1.02;SOR=0.923	GT:AD:DP:GQ:PGT:PID:PL:PS	2|2:1,0,34,0:35:81:1|1:32530183_CTT_C:1505,1508,1530,81,102,0,1508,1530,102,1530:32530183	0	3	1	0
chr6	32530185	32530185	T	0	exonic	HLA-DRB5	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7143	53589.95	112	chr6	32530185	.	T	TGC,*,C	53589.95	.	AC=5,18,14;AF=0.119,0.429,0.333;AN=42;BaseQRankSum=0.157;DP=2296;ExcessHet=1.1607;FS=2.990;InbreedingCoeff=-0.1351;MLEAC=5,18,14;MLEAF=0.119,0.429,0.333;MQ=55.53;MQRankSum=0.00;QD=24.29;ReadPosRankSum=-2.360e-01;SOR=0.922	GT:AD:DP:GQ:PGT:PID:PL:PS	2|2:1,0,34,0:35:81:1|1:32530183_CTT_C:1505,1508,1530,81,102,0,1508,1530,102,1530:32530183	0	1	0	0
chr6	32584158	32584158	G	T	exonic	HLA-DRB1	.	stopgain	HLA-DRB1:NM_002124:exon2:c.C321A:p.Y107X,	.	.	38	1273	37	0	174	211	0.0143244	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	.	.	.	.	0.019	N	1.000	A	.	.	.	.	.	.	.	.	.	2.920	15.73	-1.18	-0.021	0.300	8.251	.	.	.	.	0.1326	0.0860	0.1891	0.1952	0.1299	0.1319	0.1322	0.1062	0.0914801	14143	154602	rs11554463	0.0011	0.0015	0.0010	0.0012	0.0031	0.0010	0.0010	0.0026	0.0024	0.0011	0.0017	0.0022	0.0031	0.0008	0.0014	0.0008	0.0012	0.0025	0.0094	0.0072	0.0098	0.0089	0.0186	0.0087	0.0084	0.0128	0.0109	0.0055	0.0183	0.0146	0.0145	0.0186	0.0078	0.0200	0.0104	0.0114	0.0095	.	.	.	.	.	.	.	.	.	.	.	.	0.019402	0.01510	N	2.614030	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.27	0.30574	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.158225	0.27035	T	0.0633237	0.74465	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerant	High	4.513188	0.70700	25.6	0.98600005784927347	0.43493	0.15870	0.19121	N	ALL	0.134508	0.25455	N	-0.269699894769455	0.30323	1.689784	-0.635027386912684	0.18595	0.9940822	0.999708401555777	0.41986	0.660085	0.49399	0	0.672317	0.65289	0	0.662677	0.59975	0	0.616125	0.45549	0	.	.	3.48	-1.18	0.09122	0.618000	0.24068	.	.	-0.626000	0.04528	0.548000	0.27330	0.000000	0.08366	0.001000	0.02609	0.0982:0.4365:0.4653:0.0	8.251	0.30877	934	0.15400	MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal	.	.	.	.	.	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	0.1	9626.3	174	chr6	32584158	.	G	T,A	9626.3	.	AC=2,2;AF=0.050,0.050;AN=40;BaseQRankSum=-6.130e-01;DP=3725;ExcessHet=0.6776;FS=3.568;InbreedingCoeff=-0.1200;MLEAC=2,2;MLEAF=0.050,0.050;MQ=54.07;MQRankSum=3.07;QD=9.89;ReadPosRankSum=-5.630e-01;SOR=0.957	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:113,0,127:240:99:0|1:32584158_G_A:4890,5231,9955,0,4725,4342:32584158	16	0	2	1
chr6	32584171	32584171	G	0	exonic;splicing	HLA-DRB1;HLA-DRB1	NM_001243965:exon3:c.281+1C>0;NM_001243965:exon4:c.282-1C>0	.	.	.	.	212	511	370	121	308	920	0.374541	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.425	28452.78	197	chr6	32584171	.	G	*,T,A	28452.78	.	AC=8,10,1;AF=0.200,0.250,0.025;AN=40;BaseQRankSum=-1.190e-01;DP=4168;ExcessHet=6.7470;FS=3.321;InbreedingCoeff=-0.2727;MLEAC=8,10,1;MLEAF=0.200,0.250,0.025;MQ=53.84;MQRankSum=-1.211e+00;QD=8.51;ReadPosRankSum=1.10;SOR=0.481	GT:AD:DP:GQ:PGT:PID:PL:PS	1|2:0,116,134,0:250:99:0|1:32584158_G_A:10462,5616,5277,4854,0,4467,10467,5622,4863,10480:32584158	4	0	6	1
chr6	32584177	32584178	CG	0	exonic	HLA-DRB1	.	.	.	.	.	55	575	391	86	415	978	0.328663	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4524	39726.1	222	chr6	32584177	.	CG	C,*	39726.1	.	AC=8,13;AF=0.190,0.310;AN=42;BaseQRankSum=2.29;DP=4443;ExcessHet=11.2363;FS=1.783;InbreedingCoeff=-0.4286;MLEAC=8,13;MLEAF=0.190,0.310;MQ=53.58;MQRankSum=-2.856e+00;QD=10.49;ReadPosRankSum=-6.830e-01;SOR=0.558	GT:AD:DP:GQ:PGT:PID:PL:PS	1|2:0,123,129:252:99:0|1:32584162_G_T:10581,5417,5046,5165,0,4776:32584162	3	0	6	0
chr6	32584178	32584178	G	0	exonic	HLA-DRB1	.	.	.	.	.	53	515	203	35	716	989	0.209517	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	19514.62	219	chr6	32584178	.	G	GCT,*	19514.62	.	AC=5,20;AF=0.119,0.476;AN=42;BaseQRankSum=-6.100e-02;DP=4440;ExcessHet=2.4516;FS=0.559;InbreedingCoeff=-0.0871;MLEAC=5,20;MLEAF=0.119,0.476;MQ=50.67;MQRankSum=1.24;QD=5.44;ReadPosRankSum=2.19;SOR=0.638	GT:AD:DP:GQ:PGT:PID:PL:PS	2|2:0,0,129:252:99:1|1:32584162_G_T:5805,5805,5805,389,389,0:32584162	3	0	1	0
chr6	32584353	32584353	C	0	exonic;splicing	HLA-DRB1;HLA-DRB1	NM_001243965:exon2:c.101-1G>0	.	.	.	.	171	315	497	500	39	1536	0.703808	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7	182961.39	194	chr6	32584353	.	C	A,*	182961.39	.	AC=26,3;AF=0.650,0.075;AN=40;BaseQRankSum=2.52;DP=6556;ExcessHet=2.5338;FS=2.208;InbreedingCoeff=-0.0889;MLEAC=27,3;MLEAF=0.675,0.075;MQ=54.10;MQRankSum=-6.249e+00;QD=32.11;ReadPosRankSum=2.64;SOR=0.888	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,457,0:457:99:.:.:20565,1376,0,20565,1376,20565	1	9	7	1
chr6	32584354	32584354	C	0	exonic;splicing	HLA-DRB1;HLA-DRB1	NM_001243965:exon2:c.101-2G>0	.	.	.	.	175	338	454	378	177	1387	0.641569	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5789	154460.88	195	chr6	32584354	.	C	G,A,*	154460.88	.	AC=18,5,1;AF=0.474,0.132,0.026;AN=38;BaseQRankSum=-2.830e-01;DP=6461;ExcessHet=1.8260;FS=3.068;InbreedingCoeff=-0.0814;MLEAC=19,5,1;MLEAF=0.500,0.132,0.026;MQ=53.66;MQRankSum=4.10;QD=29.69;ReadPosRankSum=-9.790e-01;SOR=1.011	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,450,0,0:450:99:.:.:20250,1355,0,20250,1355,20250,20250,1355,20250,20250	2	4	8	2
chr6	32584357	32584357	T	0	exonic	HLA-DRB1	.	.	.	.	.	88	536	775	35	88	933	0.440793	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.35	58783.46	171	chr6	32584357	.	T	G,*	58783.46	.	AC=12,2;AF=0.300,0.050;AN=40;BaseQRankSum=-3.436e+00;DP=5785;ExcessHet=6.1794;FS=7.618;InbreedingCoeff=-0.3166;MLEAC=12,2;MLEAF=0.300,0.050;MQ=54.27;MQRankSum=1.64;QD=13.90;ReadPosRankSum=-3.470e-01;SOR=1.239	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:172,234,0:406:99:.:.:9270,0,6453,9788,7158,16946	7	0	12	1
chr6	32584370	32584370	G	0	exonic	HLA-DRB1	.	.	.	.	.	164	387	826	46	99	1017	0.542553	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5263	77795.68	157	chr6	32584370	.	G	*,A	77795.68	.	AC=12,17;AF=0.316,0.447;AN=38;BaseQRankSum=3.82;DP=5453;ExcessHet=0.1204;FS=4.284;InbreedingCoeff=0.3021;MLEAC=13,18;MLEAF=0.342,0.474;MQ=52.94;MQRankSum=-1.218e+01;QD=17.06;ReadPosRankSum=-1.291e+00;SOR=1.063	GT:AD:DP:GQ:PGT:PID:PL:PS	1/2:0,215,154:369:99:.:.:15719,6481,5819,9043,0,8564	2	0	3	2
chr6	32641444	32641444	G	0	exonic	HLA-DQA1	.	.	.	.	.	476	488	96	33	429	591	0.142355	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	12898.36	213	chr6	32641444	.	G	C,*	12898.36	.	AC=10,14;AF=0.238,0.333;AN=42;BaseQRankSum=3.77;DP=4027;ExcessHet=1.2156;FS=8.630;InbreedingCoeff=0.0278;MLEAC=10,14;MLEAF=0.238,0.333;MQ=56.94;MQRankSum=-9.014e+00;QD=4.08;ReadPosRankSum=-2.282e+00;SOR=0.880	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:178,0,45:223:99:0|1:32641430_C_T:1354,1890,9364,0,7474,7339:32641430	4	2	3	0
chr6	32641445	32641445	A	0	exonic	HLA-DQA1	.	.	.	.	.	478	485	97	33	429	592	0.143866	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	12919.36	215	chr6	32641445	.	A	*,T	12919.36	.	AC=14,10;AF=0.333,0.238;AN=42;BaseQRankSum=3.40;DP=4033;ExcessHet=1.2156;FS=8.537;InbreedingCoeff=0.0278;MLEAC=14,10;MLEAF=0.333,0.238;MQ=56.99;MQRankSum=-8.973e+00;QD=4.08;ReadPosRankSum=-2.307e+00;SOR=0.861	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:178,45,0:223:99:0|1:32641430_C_T:1354,0,7339,1890,7474,9364:32641430	4	2	7	0
chr6	32641462	32641462	G	0	exonic	HLA-DQA1	.	.	.	.	.	480	493	54	16	479	565	0.0802239	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	10387.93	236	chr6	32641462	.	G	A,*	10387.93	.	AC=8,16;AF=0.190,0.381;AN=42;BaseQRankSum=5.43;DP=4198;ExcessHet=1.2156;FS=3.431;InbreedingCoeff=0.0278;MLEAC=8,16;MLEAF=0.190,0.381;MQ=57.72;MQRankSum=-9.839e+00;QD=3.14;ReadPosRankSum=-1.129e+00;SOR=0.649	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:200,0,47:247:99:0|1:32641430_C_T:1372,1974,10214,0,8240,8099:32641430	4	1	3	0
chr6	32641464	32641464	T	0	exonic	HLA-DQA1	.	.	.	.	.	475	499	54	15	479	563	0.077634	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	10409.93	237	chr6	32641464	.	T	A,*	10409.93	.	AC=8,16;AF=0.190,0.381;AN=42;BaseQRankSum=3.55;DP=4202;ExcessHet=1.2156;FS=3.398;InbreedingCoeff=0.0278;MLEAC=8,16;MLEAF=0.190,0.381;MQ=57.80;MQRankSum=-9.745e+00;QD=3.15;ReadPosRankSum=-9.480e-01;SOR=0.651	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:200,0,47:247:99:0|1:32641430_C_T:1372,1974,10214,0,8240,8099:32641430	4	1	3	0
chr6	32641501	32641501	G	0	exonic	HLA-DQA1	.	.	.	.	.	496	603	6	2	415	425	0.00822368	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	25415.33	297	chr6	32641501	.	G	C,*,A	25415.33	.	AC=10,13,1;AF=0.238,0.310,0.024;AN=42;BaseQRankSum=2.16;DP=4612;ExcessHet=1.2156;FS=0.551;InbreedingCoeff=0.0278;MLEAC=10,13,1;MLEAF=0.238,0.310,0.024;MQ=58.81;MQRankSum=-6.452e+00;QD=6.79;ReadPosRankSum=1.25;SOR=0.694	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:240,0,43,0:283:99:0|1:32641476_G_A:1083,1806,11883,0,10078,9948,1806,11883,10078,11883:32641476	4	2	3	0
chr6	32641522	32641522	A	G	exonic	HLA-DQA1	.	nonsynonymous SNV	HLA-DQA1:NM_002122:exon2:c.A295G:p.M99V,	.	.	497	607	54	19	345	437	0.0704441	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.13	T	0.001	B	0.002	B	0.417	U	1.000	N	0.695	N	5.87	T	-0.920	T	0.000	T	0.292	-0.760	0.789	-7.95	-6.444	-13.284	0.888	0.044	.	.	.	0.0057	0.0025	0.0088	0.0053	0.0084	0.0066	0.0016	0.0024	0.0058783	153	26028	rs1064944	4.039e-05	0.0068	3.94e-05	4.138e-05	0.0002	2.98e-05	2.601e-05	9.923e-05	6.79e-05	0	5.25e-05	0.0002	0.0002	0	0	3.331e-05	0.0001	0	0	0.0073	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.116	0.29688	T	0.158	0.31629	T	.	.	.	.	.	.	0.417235	0.04626	U	1.376450	1	0.08975	N	.	.	.	5.87	0.00635	T	-1.45	0.35792	N	0.057	0.05670	-0.9197	0.45594	T	0.000	0.00152	T	10	0.004614234	0.00096	T	.	.	.	0.044	0.11924	.	.	.	.	0.34569313513656585	0.34483	0.852731849783	0.68618	0.289853215218	0.08902	T	0.017806	0.14461	T	-0.715283	0.00030	T	-0.656411	0.08510	T	0.0132995924044953	0.00238	T	0.206079	0.02437	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.123	0.25753	B	.;.;.;.	.;.;.;.	-4.065667	0.00001	0.001	0.34440312666605133	0.02107	0.00388	0.01954	N	AEFGBHCI	0.200916	0.32762	N	-2.37503005817049	0.00031	0.001328335	-2.55582823607075	0.00017	0.0007554368	1.0	0.98316	0.627647	0.40530	0	0.672317	0.65289	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.97	-7.95	0.01015	-12.340000	0.00003	.	.	-5.452000	0.00010	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.3982:0.2011:0.1237:0.2771	0.888	0.01170	940	0.13648	MHC class II, alpha chain, N-terminal|MHC class II, alpha chain, N-terminal;MHC class II, alpha chain, N-terminal|MHC class II, alpha chain, N-terminal;MHC class II, alpha chain, N-terminal|MHC class II, alpha chain, N-terminal;MHC class II, alpha chain, N-terminal|MHC class II, alpha chain, N-terminal	.	.	.	.	rs1064944	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.4762	28752.87	324	chr6	32641522	.	A	C,G,*	28752.87	.	AC=3,8,13;AF=0.071,0.190,0.310;AN=42;BaseQRankSum=-1.647e+00;DP=4904;ExcessHet=1.2156;FS=1.149;InbreedingCoeff=0.0278;MLEAC=3,8,13;MLEAF=0.071,0.190,0.310;MQ=58.97;MQRankSum=-5.772e+00;QD=7.21;ReadPosRankSum=1.57;SOR=0.814	GT:AD:DP:GQ:PGT:PID:PL:PS	0|3:244,0,0,49:293:99:0|1:32641476_G_A:1224,1958,12123,1958,12123,12123,0,10164,10164,10017:32641476	4	0	1	0
chr6	32641522	32641522	A	0	exonic	HLA-DQA1	.	.	.	.	.	497	607	54	19	345	437	0.0704441	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4762	28752.87	324	chr6	32641522	.	A	C,G,*	28752.87	.	AC=3,8,13;AF=0.071,0.190,0.310;AN=42;BaseQRankSum=-1.647e+00;DP=4904;ExcessHet=1.2156;FS=1.149;InbreedingCoeff=0.0278;MLEAC=3,8,13;MLEAF=0.071,0.190,0.310;MQ=58.97;MQRankSum=-5.772e+00;QD=7.21;ReadPosRankSum=1.57;SOR=0.814	GT:AD:DP:GQ:PGT:PID:PL:PS	0|3:244,0,0,49:293:99:0|1:32641476_G_A:1224,1958,12123,1958,12123,12123,0,10164,10164,10017:32641476	4	0	1	0
chr6	32664917	32664917	C	A	exonic	HLA-DQB1	.	nonsynonymous SNV	HLA-DQB1:NM_001243961:exon2:c.G260T:p.R87L	.	.	41	553	66	57	805	985	0.139969	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.022	B	0.025	B	0.941	U	0.979	N	-0.55	N	7.87	T	-1.065	T	0.000	T	0.194	0.074	4.399	0.193	-0.489	0.016	5.435	0.088	.	.	.	0.0178	0.0094	0.0074	0.0044	0.0110	0.0123	0.0177	0.0613	0.0308211	4765	154602	rs1130380	0.0002	0.0028	0.0002	0.0002	0.0006	0.0001	0.0001	0.0005	0.0004	6.946e-05	7.264e-05	8.514e-05	0	0.0002	0.0004	0.0001	0.0001	0.0006	6.32e-05	0.0064	1.542e-05	0.0001	6.948e-05	3.113e-05	2.259e-05	2.321e-05	1.392e-05	2.998e-05	0	0	0.0010	0	0	0	6.948e-05	0	0	0.065	0.44029	T	0.021	0.58613	D	0.001	0.09854	B	0.004	0.10090	B	0.941407	0.08351	U	0.961307	0.979372	0.39555	D	.	.	.	7.87	0.00331	T	-5.88	0.88699	D	0.129	0.12341	-1.0646	0.10642	T	0.000	0.00039	T	10	0.003316313	0.00057	T	.	.	.	0.088	0.25558	.	.	.	.	0.3182965296469853	0.31742	0.691323969143	0.60588	0.299167692661	0.10277	T	0.017577	0.14314	T	-0.655468	0.00067	T	-0.649226	0.09008	T	0.02403772754452	0.01149	T	0.162684	0.01473	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.116	0.23219	B	.;.;.;.	.;.;.;.	1.177431	0.15679	12.02	0.80016420578156267	0.13006	0.03612	0.08845	N	ALL	0.215815	0.34113	N	-2.29836096021619	0.00046	0.001970145	-2.22797978748312	0.00097	0.004250061	0.999999969366938	0.74766	0.652421	0.48094	0	0.52208	0.09955	0	0.64067	0.45733	0	0.530356	0.10902	0	.	.	4.06	0.193	0.14419	0.297000	0.18856	.	.	-4.622000	0.00024	0.032000	0.20554	0.000000	0.08366	0.000000	0.00833	0.0:0.4718:0.2098:0.3184	5.435	0.15776	940	0.13648	MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal;MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal;MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal;MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.4762	85390.2	233	chr6	32664917	.	C	G,A	85390.2	.	AC=14,9;AF=0.333,0.214;AN=42;BaseQRankSum=0.684;DP=5279;ExcessHet=0.5442;FS=0.000;InbreedingCoeff=0.1350;MLEAC=14,9;MLEAF=0.333,0.214;MQ=59.41;MQRankSum=-1.614e+00;QD=23.27;ReadPosRankSum=-2.039e+00;SOR=0.712	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:188,0,28:216:99:0|1:32664911_T_G:610,1176,9034,0,7858,7774:32664911	5	3	5	0
chr6	32664926	32664926	G	A	exonic	HLA-DQB1	.	nonsynonymous SNV	HLA-DQB1:NM_001243961:exon2:c.C251T:p.P84L	.	.	20	1284	160	58	0	276	0.0970464	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	1.0	D	0.97	D	0.100	U	0.722	N	2.475	M	8.26	T	-0.988	T	0.001	T	0.485	1.832	12.08	0.064	-0.130	-0.282	10.579	0.119	.	.	.	0.0182	0.0107	0.0076	0.0048	0.0114	0.0123	0.0151	0.0628	0.0296956	4591	154602	rs9274395	0.0003	0.0032	0.0003	0.0003	0.0011	0.0003	0.0003	0.0009	0.0008	7.464e-05	0.0002	0.0001	0	0.0003	0.0006	0.0003	0.0003	0.0011	0.0002	0.0078	0.0002	0.0002	0.0006	0.0001	0.0001	0.0001	7.089e-05	0.0002	0	0	0.0014	0	0	0.0046	0.0002	0	0.0006	0.069	0.40068	T	0.043	0.49942	D	0.052	0.22494	B	0.029	0.21540	B	0.099669	0.19922	U	0.369227	0.722216	0.33630	D	.	.	.	8.26	0.00269	T	-3.84	0.75058	D	0.15	0.15328	-0.9881	0.33077	T	0.001	0.00287	T	10	0.006448716	0.00146	T	.	.	.	0.119	0.33137	.	.	.	.	0.18514000446126433	0.18431	0.566269477264	0.52927	0.319175481796	0.13295	T	0.014743	0.12495	T	-0.159806	0.26790	T	-0.467326	0.25804	T	0.051758160492758	0.05806	T	0.0806919	0.00607	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.117	0.25656	B	.;.;.;.	.;.;.;.	1.397222	0.18105	13.55	0.99226900122916373	0.56089	0.07262	0.13285	N	ALL	0.271360	0.38723	N	-0.744876639371783	0.14773	0.7387562	-0.902920104954735	0.12025	0.6161842	0.999999967135338	0.74766	0.652421	0.48094	0	0.504199	0.08210	0	0.64067	0.45733	0	0.530356	0.10902	0	.	.	4.06	0.064	0.13666	-0.204000	0.09426	.	.	-0.499000	0.05024	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.0:0.5119:0.4881	10.579	0.44436	940	0.13648	MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal;MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal;MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal;MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal	.	.	.	.	rs9274395	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.2143	7784.99	221	chr6	32664926	.	G	A	7784.99	.	AC=9;AF=0.214;AN=42;BaseQRankSum=5.16;DP=5217;ExcessHet=0.9430;FS=0.663;InbreedingCoeff=0.0101;MLEAC=9;MLEAF=0.214;MQ=58.26;MQRankSum=-8.878e+00;QD=5.88;ReadPosRankSum=-3.053e+00;SOR=0.690	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:190,34:224:99:0|1:32664911_T_G:856,0,7854:32664911	13	1	7	0
chr6	32666525	32666525	A	0	exonic	HLA-DQB1	.	.	.	.	.	0	4	73	139	10	361	0.977716	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7619	55654.92	97	chr6	32666525	.	A	*,G	55654.92	.	AC=9,30;AF=0.214,0.714;AN=42;BaseQRankSum=-1.394e+00;DP=1812;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=0.6410;MLEAC=9,30;MLEAF=0.214,0.714;MQ=60.00;MQRankSum=0.00;QD=31.69;ReadPosRankSum=-4.920e-01;SOR=0.732	GT:AD:DP:GQ:PGT:PID:PL:PS	2/2:0,0,98:98:99:.:.:4405,4405,4405,295,295,0	1	1	0	0
chr6	33684679	33684679	A	C	exonic	ITPR3	.	nonsynonymous SNV	ITPR3:NM_002224:exon38:c.A5128C:p.I1710L,	.	.	392	1128	2	0	0	2	0.00088574	.	.	2363639	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.63	T	0.0	B	0.0	B	0.586	N	1.000	N	-0.55	N	-2.81	D	-0.881	T	0.161	T	0.126	1.091	9.453	2.46	0.870	0.085	2.732	0.206	0.0380675637934	0.0004	0.000599042	0.0004	0.0017	0.0003	0.0005	0	0.0003	0.0011	0.0001	0.0003687	57	154602	rs142457410	0.0002	0.0002	0.0002	0.0002	0.0027	0.0002	0.0002	0.0022	0.0021	0.0027	0.0002	0.0006	0.0006	1.877e-05	0.0026	8.993e-05	0.0006	0.0001	0.0008	0.0008	0.0009	0.0007	0.0025	0.0007	0.0007	0.0018	0.0016	0.0021	0	0.0004	0	0.0025	0	0	0.0002	0.0005	0	0.599	0.05652	T	0.675	0.06205	T	0.0	0.02946	B	0.0	0.01387	B	0.585988	0.11096	N	0.828909	0.999933	0.19363	N	0.345	0.11182	N	-2.81	0.91134	D	-0.03	0.07444	N	0.137	0.13484	-0.8809	0.49689	T	0.161	0.49615	T	10	0.0077225566	0.00175	T	0.038068	0.57999	D	0.206	0.49396	0.285	0.24280	0.741985612866	0.73967	0.08154949090826664	0.08089	0.402967477826	0.41245	0.297224700451	0.09988	T	0.235959	0.60334	T	-0.41061	0.01969	T	-0.367827	0.37141	T	0.00321266900677983	0.00034	T	0.156584	0.01380	T	0.03949004	0.05463	0.031586662	0.01768	0.03949004	0.05462	0.031586662	0.01768	-1.483	0.01730	T	.	.	0.055	0.00420	B	.;.	.;.	1.209136	0.16017	12.26	0.92453981496221804	0.21879	0.21498	0.21423	N	AEFDGBI	0.090923	0.18421	N	-0.829689203348744	0.12556	0.6127401	-0.666181525301217	0.17809	0.9485948	0.89630953134356	0.25975	0.706548	0.73137	0	0.702456	0.74545	0	0.570548	0.19454	0	0.714379	0.83352	0	.	.	5.05	2.46	0.29032	-0.164000	0.09972	-1.014000	0.06603	0.740000	0.86194	0.000000	0.06391	0.000000	0.08366	0.792000	0.37394	0.5057:0.0:0.1924:0.3018	2.732	0.04906	508	0.75398	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2620.98	37	chr6	33684679	.	A	C	2620.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.072;DP=976;ExcessHet=0.0000;FS=4.335;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.70;ReadPosRankSum=-2.035e+00;SOR=0.768	GT:AD:DP:GQ:PL	0/1:137,108:245:99:2635,0,3646	20	0	1	0
chr6	33728103	33728103	G	A	exonic	IP6K3	.	nonsynonymous SNV	IP6K3:NM_054111:exon3:c.C397T:p.R133C	.	.	429	1081	12	0	0	12	0.00551978	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07	T	0.001	B	0.001	B	0.300	N	1.000	N	1.67	L	-0.06	T	-1.010	T	0.098	T	0.049	0.278	5.502	3.64	0.625	0.133	4.846	0.071	0.0324913304677	0.0008	0.00119808	0.0014	0.0001	0.0011	0.0001	0	0.0020	0.0023	0.0015	0.0013066	202	154602	rs146845617	0.0010	0.0010	0.0010	0.0010	0.0050	0.0009	0.0009	0.0036	0.0031	0.0004	0.0015	0.0103	0.0001	4.443e-05	0.0050	0.0007	0.0019	0.0016	0.0011	0.0011	0.0012	0.0010	0.0027	0.0010	0.0009	0.0016	0.0013	0.0003	0	0.0020	0.0118	0.0004	9.407e-05	0.0170	0.0008	0.0028	0.0027	0.059	0.37536	T	0.087	0.40747	T	0.001	0.07471	B	0.001	0.04355	B	0.300177	0.03950	N	1.519180	0.999991	0.08975	N	0	0.06538	N	-0.06	0.63568	T	-2.66	0.56945	D	0.091	0.06990	-1.0099	0.26949	T	0.098	0.36600	T	10	0.0054971576	0.00121	T	0.032491	0.54300	D	0.071	0.20720	.	.	0.65945967189	0.65660	0.2296236268867109	0.22877	0.254136569004	0.27982	0.207165658474	0.00697	T	0.045381	0.27105	T	-0.607539	0.00131	T	-0.670091	0.07603	T	0.0164511061849929	0.00411	T	0.214779	0.02659	T	0.06299933	0.13218	0.08181975	0.18625	0.06299933	0.13218	0.08181975	0.18625	-3.366	0.14602	T	.	.	0.067	0.02518	B	.;.	.;.	0.973455	0.13505	10.03	0.91852241416486713	0.21165	0.12101	0.17060	N	AEFDBI	0.195046	0.32210	N	-0.877326820188601	0.11384	0.5490492	-0.878917670182381	0.12594	0.6487431	0.94100460363801	0.27457	0.516011	0.20929	0	0.563428	0.19063	0	0.577349	0.28860	0	0.542086	0.14980	0	.	.	5.51	3.64	0.40864	0.188000	0.16826	0.111000	0.14782	-2.821000	0.00180	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.1849:0.0:0.6092:0.2059	4.846	0.12878	668	0.61153	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	895.98	36	chr6	33728103	.	G	A	895.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.78;DP=878;ExcessHet=0.0000;FS=0.780;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.78;ReadPosRankSum=-6.160e-01;SOR=0.599	GT:AD:DP:GQ:PL	0/1:66,36:102:99:910,0,1625	20	0	1	0
chr6	33784424	33784424	A	G	exonic	LEMD2	.	nonsynonymous SNV	LEMD2:NM_001348710:exon3:c.T382C:p.C128R	Cataract 46, juvenile-onset, Autosomal recessive	.	442	1078	2	0	0	2	0.000926784	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.27	T	1.0	D	0.999	D	0.000	D	1.000	D	1.1	L	.	.	-0.789	T	0.204	T	0.962	2.749	15.15	5.61	2.130	6.079	14.368	0.349	0.00607541978312	0.0002	0.000199681	0.0002	0.0013	0.0002	0	0	7.585e-05	0.0011	0.0004	0.0001811	28	154602	rs140495067	7.392e-05	6.232e-05	6.759e-05	8.036e-05	0.0012	6.104e-05	5.672e-05	0.0007	0.0006	0.0010	8.036e-05	0	0	3.15e-05	0.0012	2.544e-05	0.0001	0.0003	0.0004	0.0004	0.0004	0.0003	0.0011	0.0003	0.0002	0.0008	0.0007	0.0011	0	0.0003	0	0	0	0	4.755e-05	0.0005	0	0.001	0.78490	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.000071	0.52346	D	0.083788	1	0.81001	D	1.175	0.29870	L	.	.	.	-2.88	0.60507	D	0.885	0.95374	-0.7895	0.55759	T	0.204	0.56169	T	9	0.38170177	0.54242	T	0.006075	0.15875	T	0.349	0.67049	.	.	0.605465558274	0.60230	0.9040387221658819	0.90376	1.2075056147	0.80735	0.829558253288	0.86495	D	0.389309	0.74977	T	0.126683	0.67037	D	0.373817	0.91210	D	0.0800875830094137	0.09999	T	0.639136	0.25234	T	0.8559381	0.87778	0.81140417	0.88989	0.8559381	0.87779	0.81140417	0.88990	-8.103	0.61771	D	.	.	0.995	0.95479	P	.;.	.;.	4.537159	0.71281	25.6	0.98896497253325144	0.48109	0.98606	0.84623	D	AEFBI	0.773709	0.70764	D	0.579203701809192	0.71876	5.718307	0.608232138822431	0.75537	6.32805	0.999999991473894	0.74766	0.722319	0.85440	0	0.724815	0.89359	0	0.724815	0.87919	0	0.735409	0.98432	0	.	.	5.61	5.61	0.85347	5.690000	0.67904	11.103000	0.86162	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	1.0:0.0:0.0:0.0	14.368	0.66384	728	0.54609	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1092.98	47	chr6	33784424	.	A	G	1092.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.543e+00;DP=983;ExcessHet=0.0000;FS=1.830;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.39;ReadPosRankSum=-1.621e+00;SOR=0.505	GT:AD:DP:GQ:PL	0/1:50,46:96:99:1107,0,1379	20	0	1	0
chr6	34528877	34528877	G	C	exonic	PACSIN1	.	nonsynonymous SNV	PACSIN1:NM_001199583:exon4:c.G456C:p.E152D	.	.	.	.	.	.	.	.	.	1.0000	0.978	.	.	.	.	.	.	.	.	.	.	.	.	.	0.21	T	0.553	P	0.083	B	0.000	D	1.000	D	1.95	M	2.41	T	-1.008	T	0.071	T	0.436	2.919	15.73	3.78	2.110	9.566	15.812	0.244	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.115	0.28646	T	0.165	0.30926	T	0.553	0.38185	P	0.083	0.29179	B	0.000002	0.62929	D	0.057166	1	0.81001	D	2.38	0.68558	M	2.41	0.48142	T	-1.81	0.42575	N	0.616	0.64223	-1.0078	0.27603	T	0.071	0.28969	T	10	0.4428772	0.58213	T	0.024482	0.47468	T	0.244	0.55061	0.294	0.25720	0.603040811188	0.59987	0.16305492827728518	0.16225	0.503798904839	0.48685	0.678037703037	0.63986	T	0.217569	0.58004	T	-0.0396076	0.46008	T	-0.29467	0.45284	T	0.786065635174898	0.45434	D	0.929307	0.73951	D	0.41346648	0.61654	0.24255277	0.49678	0.41346648	0.61655	0.24255277	0.49677	-4.274	0.27811	T	.	.	0.186	0.41572	B	.;.;.;.	.;.;.;.	6.345052	0.95053	34	0.99146723813992677	0.53682	0.99349	0.94855	D	AEFBI	0.935786	0.93115	D	0.223423782744756	0.52335	3.408396	0.272362554212518	0.53931	3.559894	0.999999999990351	0.74766	0.706298	0.61202	0	0.588066	0.40923	0	0.709663	0.75317	0	0.542086	0.14980	0	.	.	3.78	3.78	0.42629	9.911000	0.98680	11.737000	0.95113	0.674000	0.70861	1.000000	0.71638	1.000000	0.68203	0.969000	0.54022	0.0:0.0:1.0:0.0	15.812	0.78346	632	0.64850	F-BAR domain|PACSIN1, F-BAR;F-BAR domain;F-BAR domain|PACSIN1, F-BAR;F-BAR domain|PACSIN1, F-BAR	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.1176	99.15	53	chr6	34528877	.	G	C	99.15	.	AC=4;AF=0.118;AN=34;BaseQRankSum=-2.849e+00;DP=1213;ExcessHet=0.6776;FS=95.332;InbreedingCoeff=-0.1646;MLEAC=4;MLEAF=0.118;MQ=60.00;MQRankSum=0.00;QD=0.42;ReadPosRankSum=1.10;SOR=7.155	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:59,15:74:32:0|1:34528877_G_C:32,0,1755:34528877	13	0	4	4
chr6	34528878	34528878	G	C	splicing	PACSIN1	NM_020804:exon4:c.456+1G>C;NM_001199583:exon4:c.456+1G>C	.	.	.	.	.	.	.	.	.	.	.	1.0000	0.906	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.000	D	.	.	.	.	.	.	.	.	.	3.206	16.74	3.65	2.045	3.808	15.531	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.999e-06	0.0002	8.365e-06	5.622e-06	9.215e-06	3.54e-06	2.58e-06	4.66e-06	3.4e-06	0	0	0	0	0	0	9.215e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.248786	0.78487	D	0.119587	0.78208	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.;.	.;.;.;.	7.107861	0.96150	35	0.99376011016101284	0.61671	0.99663	0.98459	D	AEFBI	.	.	.	0.983139481429135	0.95203	13.40136	0.770643117215695	0.87689	9.309817	0.999999999960085	0.74766	0.078448	0.01964	0	0.097471	0.02872	0	0.083675	0.02720	0	0.058706	0.01089	0	0.938909	0.59992	3.65	3.65	0.40985	9.429000	0.96714	11.737000	0.95113	0.616000	0.49467	1.000000	0.71638	1.000000	0.68203	0.954000	0.50415	0.0:0.0:1.0:0.0	15.531	0.75701	632	0.64850	.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.375	524.24	53	chr6	34528878	.	G	C	524.24	.	AC=9;AF=0.375;AN=24;BaseQRankSum=-7.030e-01;DP=1276;ExcessHet=4.7172;FS=105.745;InbreedingCoeff=-0.4484;MLEAC=11;MLEAF=0.458;MQ=60.00;MQRankSum=0.00;QD=1.00;ReadPosRankSum=0.745;SOR=9.923	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:57,14:75:32:0|1:34528877_G_C:32,0,1755:34528877	3	0	9	9
chr6	34834333	34834333	G	T	exonic	UHRF1BP1	.	nonsynonymous SNV	UHRF1BP1:NM_017754:exon5:c.G455T:p.G152V,	.	.	426	1074	21	1	0	23	0.0105942	.	.	722007	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.95	T	0.999	D	0.959	D	0.000	D	1.000	D	-0.325	N	3.42	T	-0.921	T	0.008	T	0.565	0.275	5.489	4.71	2.450	7.603	12.895	0.302	.	0.0006	0.00119808	0.0034	0.0002	0.0008	0.0210	0.0002	0.0016	0.0022	0.0067	0.002956	457	154602	rs35356162	0.0014	0.0014	0.0012	0.0016	0.0125	0.0013	0.0013	0.0102	0.0093	0.0002	0.0009	0.0060	0.0074	0.0002	0.0125	0.0007	0.0022	0.0064	0.0015	0.0015	0.0014	0.0016	0.0135	0.0013	0.0013	0.0110	0.0100	0.0003	0	0.0016	0.0060	0.0135	0.0002	0.0068	0.0009	0.0043	0.0048	0.949	0.02151	T	0.949	0.02624	T	0.999	0.77913	D	0.959	0.70163	D	0.000000	0.84330	D	0.000000	1	0.81001	D	0.49	0.13296	N	3.42	0.05507	T	0.68	0.02598	N	0.588	0.66016	-0.9210	0.45417	T	0.008	0.02884	T	10	0.010248005	0.00229	T	.	.	.	0.302	0.62290	.	.	0.682557300345	0.67985	0.6734018225633608	0.67278	0.589812734145	0.54465	0.769845247269	0.77402	T	0.004419	0.03828	T	-0.447255	0.01172	T	-0.394277	0.34051	T	0.0559969584509058	0.06523	T	0.866213	0.57103	D	0.20586182	0.42741	0.20441778	0.44564	0.20586182	0.42741	0.20441778	0.44563	-7.799	0.59692	D	.	.	0.264	0.50889	B	.;.	.;.	4.678595	0.74854	26.2	0.39535943563514619	0.02734	0.96833	0.71185	D	AEFDBI	0.789438	0.71863	D	0.308914415602708	0.56604	3.825478	0.394598477304385	0.61231	4.320372	0.999971986636436	0.50053	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	4.71	4.71	0.59010	6.609000	0.74047	9.835000	0.81886	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.989000	0.64315	0.0:0.0:0.8375:0.1625	12.895	0.57483	296	0.88164	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	984.98	33	chr6	34834333	.	G	T	984.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.17;DP=776;ExcessHet=0.0000;FS=2.799;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.45;ReadPosRankSum=0.182;SOR=0.922	GT:AD:DP:GQ:PL	0/1:45,41:86:99:999,0,1033	20	0	1	0
chr6	41043636	41043636	G	C	exonic	TSPO2	.	nonsynonymous SNV	TSPO2:NM_001010873:exon3:c.G253C:p.V85L	.	.	420	1092	9	1	0	11	0.00501139	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.77	T	0.0	B	0.001	B	0.069	N	1.000	N	1.01	L	1.03	T	-1.085	T	0.019	T	0.102	-0.854	0.541	-3.3	-0.641	-0.061	0.638	0.090	0.00234297893453	0.0017	0.00179712	0.0020	0.0015	0.0027	0	0.0003	0.0021	0.0045	0.0033	0.0019922	308	154602	rs147485285	0.0023	0.0023	0.0023	0.0024	0.0038	0.0023	0.0023	0.0035	0.0033	0.0007	0.0025	0.0010	0	0.0002	0.0038	0.0025	0.0025	0.0038	0.0017	0.0017	0.0017	0.0018	0.0031	0.0016	0.0015	0.0025	0.0024	0.0007	0	0.0014	0.0006	0	0.0002	0.0102	0.0028	0.0014	0.0031	0.898	0.02436	T	0.703	0.05663	T	0.0	0.02946	B	0.001	0.04355	B	0.069162	0.02229	N	1.955430	1	0.08975	N	1.15	0.29295	L	1.03	0.40469	T	-0.85	0.23156	N	0.106	0.09772	-1.0850	0.06407	T	0.019	0.07893	T	10	0.0064745545	0.00147	T	0.002343	0.04535	T	0.090	0.26093	.	.	0.166414681773	0.16258	0.2332732126691424	0.23242	0.259490706141	0.28504	0.294637024403	0.09603	T	0.012599	0.11043	T	-0.644177	0.00079	T	-0.700828	0.05781	T	0.033278826624155	0.02518	T	0.523548	0.17131	T	0.0381984	0.05044	0.046442296	0.06473	0.0381984	0.05044	0.046442296	0.06473	-2.839	0.08548	T	.	.	0.109	0.25914	B	.;.	.;.	0.374296	0.07463	4.102	0.74768250829263816	0.10819	0.04048	0.09492	N	AEFDI	0.101413	0.20368	N	-1.37152377689438	0.02908	0.129119	-1.37605386298669	0.03509	0.1638203	0.999661792004702	0.41534	0.554377	0.28877	0	0.588066	0.40923	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	4.71	-3.3	0.04692	0.086000	0.14780	1.033000	0.23495	-0.182000	0.10109	0.000000	0.06391	0.000000	0.08366	0.954000	0.50415	0.3381:0.2841:0.1921:0.1857	0.638	0.00754	469	0.78175	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1042.98	36	chr6	41043636	.	G	C	1042.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.400e-01;DP=799;ExcessHet=0.0000;FS=4.058;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.99;ReadPosRankSum=-5.690e-01;SOR=0.998	GT:AD:DP:GQ:PL	0/1:44,43:87:99:1057,0,1127	20	0	1	0
chr6	44229406	44229406	C	T	exonic	SLC29A1	.	nonsynonymous SNV	SLC29A1:NM_001304465:exon3:c.C124T:p.L42F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.36	T	0.956	P	0.785	P	0.000	D	0.992	D	0.93	L	-0.64	T	-0.812	T	0.190	T	0.424	2.585	14.60	4.45	1.216	0.876	8.891	0.199	0.0270842663741	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.194	0.20835	T	0.239	0.24477	T	0.722	0.42387	P	0.21	0.37304	B	0.000291	0.46274	D	0.141721	0.992018	0.41532	D	1.12	0.28775	L	-0.64	0.72125	T	-1.54	0.37375	N	0.57	0.59563	-0.8125	0.54399	T	0.190	0.54108	T	10	0.2805399	0.45630	T	0.027084	0.49938	D	0.199	0.48268	.	.	0.289027227714	0.28505	.	.	0.314550106018	0.33734	0.57654607296	0.49599	T	0.247412	0.61705	T	-0.0159197	0.49434	T	-0.260644	0.48761	T	0.780354142189026	0.45072	D	0.80002	0.44873	T	0.25879025	0.48930	0.16195175	0.37644	0.25879025	0.48930	0.16195175	0.37643	-6.311	0.48809	T	0.2968931265094968	0.39397	0.101	0.35477	B	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	3.476885	0.48538	22.6	0.99733818646622996	0.82975	0.86155	0.45383	D	AEFBI	0.483729	0.52405	N	0.104427770763267	0.46670	2.903757	0.164691005738116	0.47925	3.015602	0.999980561748904	0.51787	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.34	4.45	0.53365	1.246000	0.32405	1.800000	0.28874	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.1479:0.7746:0.0:0.0775	8.891	0.34594	794	0.45591	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.3889	1304.96	82	chr6	44229406	.	C	T	1304.96	.	AC=14;AF=0.389;AN=36;BaseQRankSum=-2.959e+00;DP=2294;ExcessHet=14.4320;FS=177.510;InbreedingCoeff=-0.6006;MLEAC=16;MLEAF=0.444;MQ=60.00;MQRankSum=0.00;QD=0.83;ReadPosRankSum=1.16;SOR=12.393	GT:AD:DP:GQ:PL	0/1:104,37:148:41:41,0,1630	4	0	14	3
chr6	46752096	46752096	T	C	exonic	ANKRD66	.	nonsynonymous SNV	ANKRD66:NM_001162435:exon3:c.T313C:p.W105R,	.	.	432	1085	5	0	0	5	0.00229885	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0013	0.000199681	0.0032	0.0015	0	0	0	0.0025	0.0169	0.0070	0.0006274	97	154602	rs199749836	0.0031	0.0029	0.0031	0.0032	0.0033	0.0030	0.0030	0.0032	0.0032	0.0004	0.0004	0	3.153e-05	0.0065	0.0004	0.0033	0.0023	0.0028	0.0022	0.0022	0.0022	0.0022	0.0031	0.0020	0.0019	0.0027	0.0026	0.0006	0	0.0005	0	0.0004	0.0077	0.0068	0.0031	0.0014	0.0010	0.005	0.63226	D	0.004	0.74150	D	.	.	.	.	.	.	.	.	.	.	0.999529	0.47407	D	0.58	0.15352	N	-0.09	0.64086	T	-11.14	0.99354	D	0.865	0.86191	.	.	.	.	.	.	.	0.03628838	0.01920	T	.	.	.	.	.	.	.	0.800053774975	0.79818	0.8473007381577435	0.84691	.	.	0.709243655205	0.68484	T	0.040442	0.25529	T	-0.0417315	0.45692	T	0.165806	0.81157	D	.	.	.	0.859714	0.55187	D	0.74800014	0.80752	0.793415	0.87858	0.74800014	0.80754	0.793415	0.87859	-11.277	0.81156	D	.	.	0.974	0.90004	P	.	.	5.022454	0.83484	28.1	0.99501672516220485	0.68089	0.99053	0.90538	D	AEFI	0.838706	0.75619	D	.	.	.	.	.	.	0.999857704407567	0.44174	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	5.56	5.56	0.83678	7.183000	0.77236	7.711000	0.66806	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:0.0:1.0	14.536	0.67551	729	0.54495	Ankyrin repeat-containing domain|Ankyrin repeat-containing domain|Ankyrin 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	0.02381	962.98	34	chr6	46752096	.	T	C	962.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.884e+00;DP=794;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.60;ReadPosRankSum=0.068;SOR=0.701	GT:AD:DP:GQ:PL	0/1:43,40:83:99:977,0,1198	20	0	1	0
chr6	52403967	52403967	A	G	exonic	PAQR8	.	nonsynonymous SNV	PAQR8:NM_133367:exon2:c.A754G:p.I252V,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.006	B	0.041	B	0.000	D	1.000	D	0.24	N	1.69	T	-1.025	T	0.018	T	0.207	-0.511	1.662	5.64	2.147	2.830	15.038	0.060	0.00527960526329	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.978e-05	0.0024	1.833e-05	2.124e-05	2.524e-05	1.372e-05	1.181e-05	1.728e-05	1.481e-05	0	2.239e-05	0	0	0	0	2.524e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	1.0	0.01155	T	0.006	0.13644	B	0.041	0.23986	B	0.000025	0.55875	D	0.115163	0.999832	0.49637	D	.	.	.	1.69	0.27032	T	0.18	0.05035	N	0.134	0.13055	-1.0252	0.22017	T	0.018	0.07518	T	9	0.10744271	0.19958	T	0.00528	0.13494	T	0.060	0.17295	0.488	0.57257	0.376393476264	0.37247	0.3401186203858187	0.33924	0.3389385424	0.35853	0.68097782135	0.64409	T	0.052677	0.29229	T	-0.214048	0.18812	T	-0.545242	0.17786	T	0.904308378696442	0.55774	D	0.813919	0.46746	T	0.07455341	0.16739	0.0980514	0.23362	0.07455341	0.16739	0.0980514	0.23362	-3.487	0.16251	T	.	.	0.198	0.42111	B	.;.	.;.	2.178607	0.27765	17.57	0.81419057112976168	0.13676	0.59864	0.31033	D	ALL	0.196894	0.32384	N	-0.163518393347399	0.34660	1.981109	0.0656923634619325	0.42836	2.598076	0.999999999628226	0.74766	0.706298	0.61202	0	0.653731	0.59785	0	0.709663	0.75317	0	0.635551	0.53088	0	.	.	5.64	5.64	0.86480	4.094000	0.57448	11.121000	0.86550	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	1.0:0.0:0.0:0.0	15.038	0.71424	718	0.55760	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.1923	851.03	179	chr6	52403967	.	A	G	851.03	.	AC=5;AF=0.192;AN=26;BaseQRankSum=-3.856e+00;DP=2907;ExcessHet=1.1607;FS=121.785;InbreedingCoeff=-0.2622;MLEAC=6;MLEAF=0.231;MQ=60.00;MQRankSum=0.00;QD=0.76;ReadPosRankSum=1.19;SOR=10.307	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:210,46:256:99:.:.:209,0,5502	8	0	5	8
chr6	75702663	75702665	TGT	-	exonic	SENP6	.	nonframeshift deletion	SENP6:NM_001100409:exon18:c.2286_2288del:p.V764del	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.949e-07	6.84e-07	0	1.402e-06	3.078e-05	0	0	.	.	3.078e-05	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1369.94	33	chr6	75702662	.	CTGT	C	1369.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.875;DP=761;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=17.56;ReadPosRankSum=-5.160e-01;SOR=0.751	GT:AD:DP:GQ:PL	0/1:41,37:78:99:1384,0,1610	20	0	1	0
chr6	80007990	80007990	G	C	exonic	TTK	.	nonsynonymous SNV	TTK:NM_001166691:exon3:c.G321C:p.E107D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.994	D	0.000	D	0.939	D	1.955	M	-2.54	D	0.480	D	0.698	D	0.589	3.817	19.38	2.91	0.879	1.891	11.092	0.607	0.126467273608	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	8.893e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.035	0.92824	D	0.999	0.77913	D	0.993	0.81110	D	0.000000	0.84330	D	0.000000	0.938546	0.37229	D	2.62	0.76659	M	-2.54	0.89496	D	-1.53	0.56787	N	0.406	0.46649	0.480	0.90261	D	0.698	0.89595	D	10	0.39968592	0.55478	T	0.126467	0.80813	D	0.607	0.84559	0.377	0.39156	0.756102065754	0.75388	0.29326060996924297	0.29239	0.586303879314	0.54233	0.593461692333	0.51983	T	0.093775	0.51827	T	0.153432	0.69590	D	-0.0173821	0.69202	D	0.93341064453125	0.60015	D	0.887811	0.64303	D	0.7694828	0.82017	0.34171048	0.59907	0.7694828	0.82018	0.34171048	0.59906	-9.025	0.67858	D	.	.	0.446	0.62023	A	.;.;.;.;.;.	.;.;.;.;.;.	4.273798	0.65043	24.8	0.99838627551170323	0.91972	0.91788	0.54264	D	AEFBI	0.340775	0.43748	N	0.324956302953043	0.57431	3.910505	0.282171109977361	0.54497	3.614648	0.999919670358034	0.45857	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.613276	0.41899	0	.	.	5.66	2.91	0.32903	2.081000	0.41220	5.042000	0.46920	-0.106000	0.15538	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.2117:0.0:0.7883:0.0	11.092	0.47344	827	0.39843	.;.;.;.;.;.	.	.	.	.	.	Likely pathogenic	0	0	0	0	0	1	1	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.4643	8626.22	29	chr6	80007990	.	G	C,A	8626.22	.	AC=9,4;AF=0.321,0.143;AN=28;BaseQRankSum=-1.515e+00;DP=1035;ExcessHet=11.8493;FS=213.695;InbreedingCoeff=-0.6471;MLEAC=11,5;MLEAF=0.393,0.179;MQ=60.00;MQRankSum=0.00;QD=11.90;ReadPosRankSum=0.474;SOR=11.340	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:42,21,0:63:99:0|1:80007990_G_C:515,0,1641,641,1704,2345:80007990	1	0	9	7
chr6	80007992	80007997	GTTTTG	-	exonic	TTK	.	nonframeshift deletion	TTK:NM_001166691:exon3:c.323_328del:p.S108_A110delinsT	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3095	8059.53	71	chr6	80007991	.	AGTTTTG	A,AG,ATG	8059.53	.	AC=5,5,3;AF=0.119,0.119,0.071;AN=42;BaseQRankSum=-1.812e+00;DP=1299;ExcessHet=11.8493;FS=210.889;InbreedingCoeff=-0.4483;MLEAC=5,5,3;MLEAF=0.119,0.119,0.071;MQ=60.00;MQRankSum=0.00;QD=11.21;ReadPosRankSum=0.164;SOR=11.291	GT:AD:DP:GQ:PGT:PID:PL:PS	0|3:42,0,0,22:64:99:0|1:80007990_G_C:531,657,2361,657,2361,2361,0,1704,1704,1638:80007990	8	0	5	0
chr6	80007993	80007997	TTTTG	-	exonic	TTK	.	stopgain	TTK:NM_001166691:exon3:c.324_328del:p.F109*	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3095	8059.53	71	chr6	80007991	.	AGTTTTG	A,AG,ATG	8059.53	.	AC=5,5,3;AF=0.119,0.119,0.071;AN=42;BaseQRankSum=-1.812e+00;DP=1299;ExcessHet=11.8493;FS=210.889;InbreedingCoeff=-0.4483;MLEAC=5,5,3;MLEAF=0.119,0.119,0.071;MQ=60.00;MQRankSum=0.00;QD=11.21;ReadPosRankSum=0.164;SOR=11.291	GT:AD:DP:GQ:PGT:PID:PL:PS	0|3:42,0,0,22:64:99:0|1:80007990_G_C:531,657,2361,657,2361,2361,0,1704,1704,1638:80007990	8	0	5	0
chr6	80007992	80007992	G	0	exonic	TTK	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4412	140.96	42	chr6	80007992	.	G	*,C	140.96	.	AC=13,2;AF=0.382,0.059;AN=34;BaseQRankSum=1.16;DP=1027;ExcessHet=26.1958;FS=251.456;InbreedingCoeff=-0.6204;MLEAC=15,2;MLEAF=0.441,0.059;MQ=60.00;MQRankSum=0.00;QD=0.19;ReadPosRankSum=0.578;SOR=11.628	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:36,21,5:62:99:.:.:660,0,1593,614,678,1208	2	0	13	4
chr6	80007995	80007995	T	0	exonic	TTK	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4615	929.62	41	chr6	80007995	.	T	*,TCCCC,C	929.62	.	AC=7,3,2;AF=0.269,0.115,0.077;AN=26;BaseQRankSum=0.258;DP=915;ExcessHet=22.5857;FS=220.196;InbreedingCoeff=-0.4652;MLEAC=10,4,3;MLEAF=0.385,0.154,0.115;MQ=60.00;MQRankSum=0.00;QD=1.58;ReadPosRankSum=0.586;SOR=10.928	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:41,0,21,0:62:99:0|1:80007990_G_C:523,646,2308,0,1662,1599,646,2308,1662,2308:80007990	1	0	7	8
chr6	80007995	80007995	-	CCCC	exonic	TTK	.	frameshift insertion	TTK:NM_001166691:exon3:c.326_327insCCCC:p.A110Pfs*3	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.315e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4615	929.62	41	chr6	80007995	.	T	*,TCCCC,C	929.62	.	AC=7,3,2;AF=0.269,0.115,0.077;AN=26;BaseQRankSum=0.258;DP=915;ExcessHet=22.5857;FS=220.196;InbreedingCoeff=-0.4652;MLEAC=10,4,3;MLEAF=0.385,0.154,0.115;MQ=60.00;MQRankSum=0.00;QD=1.58;ReadPosRankSum=0.586;SOR=10.928	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:41,0,21,0:62:99:0|1:80007990_G_C:523,646,2308,0,1662,1599,646,2308,1662,2308:80007990	1	0	7	8
chr6	80007995	80007995	T	C	exonic	TTK	.	nonsynonymous SNV	TTK:NM_001166691:exon3:c.T326C:p.F109S	.	.	.	.	.	.	.	.	.	.	.	3487353	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0	D	0.996	D	0.818	P	0.000	D	0.844	D	1.61	L	1.42	T	0.418	D	0.623	D	0.661	4.331	22.8	5.66	2.285	5.664	9.438	0.543	0.192901871488	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0.0028	0.0003	0.0002	0.0004	0.0002	0.0002	0.0003	0.0003	0.0003	0	4.221e-05	2.681e-05	0	0.0004	0.0003	6.299e-05	5.109e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.001	0.83351	D	0.996	0.68779	D	0.818	0.58969	P	0.000000	0.84330	D	0.049019	0.843728	0.35108	D	2.43	0.70455	M	-2.42	0.88611	D	-3.24	0.89093	D	0.479	0.51851	0.418	0.89363	D	0.623	0.86718	D	10	0.7754053	0.77418	D	0.192902	0.86272	D	0.543	0.80960	0.667	0.80502	0.865703120749	0.86440	0.5142532410060754	0.51348	0.734343058358	0.62892	0.673589468002	0.63349	T	0.307771	0.67989	T	0.230199	0.76739	D	0.0928881	0.76438	D	0.992899179458618	0.83501	D	0.849815	0.59928	T	0.9145535	0.92723	0.74627006	0.85002	0.9145535	0.92724	0.74627006	0.85003	-11.553	0.82796	D	.	.	0.975	0.91596	P	.;.;.;.;.;.	.;.;.;.;.;.	5.252684	0.88193	29.5	0.99857276268218276	0.93639	0.93449	0.58247	D	AEFBI	0.664675	0.63376	D	0.634234699625658	0.75350	6.29074	0.657051414914333	0.79135	7.019207	0.999999781221271	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.613276	0.41899	0	.	.	5.66	5.66	0.87293	5.426000	0.66214	5.025000	0.46778	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.247:0.0:0.0:0.753	9.438	0.37819	827	0.39843	.;.;.;.;.;.	.	.	.	.	.	Likely pathogenic	0	0	0	0	0	1	1	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.4615	929.62	41	chr6	80007995	.	T	*,TCCCC,C	929.62	.	AC=7,3,2;AF=0.269,0.115,0.077;AN=26;BaseQRankSum=0.258;DP=915;ExcessHet=22.5857;FS=220.196;InbreedingCoeff=-0.4652;MLEAC=10,4,3;MLEAF=0.385,0.154,0.115;MQ=60.00;MQRankSum=0.00;QD=1.58;ReadPosRankSum=0.586;SOR=10.928	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:41,0,21,0:62:99:0|1:80007990_G_C:523,646,2308,0,1662,1599,646,2308,1662,2308:80007990	1	0	7	8
chr6	81752025	81752025	-	CCGCCGAAGTCGCCG	exonic	TENT5A	.	nonframeshift insertion	TENT5A:NM_017633:exon2:c.116_117insCGGCGACTTCGGCGG:p.G45_G46insDFGGG,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.619	25831.7	45	chr6	81752010	.	ACCGCCGAAGTCGCCG	ACCGCCGAAGTCGCCGCCGCCGAAGTCGCCG,A,ACCGCCGAAGTCGCCGCCGCCGAAGTCGCCGCCGCCGAAGTCGCCG	25831.7	.	AC=22,7,4;AF=0.524,0.167,0.095;AN=42;BaseQRankSum=0.050;DP=1691;ExcessHet=0.0020;FS=1.111;InbreedingCoeff=0.5758;MLEAC=22,7,4;MLEAF=0.524,0.167,0.095;MQ=59.99;MQRankSum=0.00;QD=28.92;ReadPosRankSum=-7.030e-01;SOR=0.456	GT:AD:DP:GQ:PL	1/3:0,12,0,7:19:99:1355,324,250,1111,332,1074,522,0,529,464	3	8	1	0
chr6	81752025	81752025	-	CCGCCGAAGTCGCCGCCGCCGAAGTCGCCG	exonic	TENT5A	.	nonframeshift insertion	TENT5A:NM_017633:exon2:c.116_117insCGGCGACTTCGGCGGCGGCGACTTCGGCGG:p.G45_G46insDFGGGDFGGG,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.619	25831.7	45	chr6	81752010	.	ACCGCCGAAGTCGCCG	ACCGCCGAAGTCGCCGCCGCCGAAGTCGCCG,A,ACCGCCGAAGTCGCCGCCGCCGAAGTCGCCGCCGCCGAAGTCGCCG	25831.7	.	AC=22,7,4;AF=0.524,0.167,0.095;AN=42;BaseQRankSum=0.050;DP=1691;ExcessHet=0.0020;FS=1.111;InbreedingCoeff=0.5758;MLEAC=22,7,4;MLEAF=0.524,0.167,0.095;MQ=59.99;MQRankSum=0.00;QD=28.92;ReadPosRankSum=-7.030e-01;SOR=0.456	GT:AD:DP:GQ:PL	1/3:0,12,0,7:19:99:1355,324,250,1111,332,1074,522,0,529,464	3	8	1	0
chr6	87418396	87418396	G	C	exonic	CFAP206	.	nonsynonymous SNV	CFAP206:NM_001031743:exon7:c.G820C:p.V274L,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.37	T	0.097	B	0.11	B	0.099	N	1.000	N	1.04	L	1.55	T	-0.985	T	0.016	T	0.051	1.919	12.37	-6.98	-1.253	0.061	8.727	0.026	0.0107427859896	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.513e-05	0.0003	1.917e-05	1.106e-05	1.991e-05	9.91e-06	8.46e-06	1.304e-05	1.113e-05	0	0	0	0	0	0	1.991e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.328	0.13219	T	0.343	0.17857	T	0.02	0.18235	B	0.032	0.22131	B	0.098836	0.19962	N	0.536219	0.999595	0.20909	N	.	.	.	1.55	0.29866	T	-0.84	0.22944	N	0.136	0.13341	-0.9845	0.33951	T	0.016	0.06711	T	10	0.103265375	0.18974	T	0.010743	0.27620	T	0.026	0.05648	0.395	0.42099	0.0954503805726	0.09146	0.19020201639342502	0.18938	0.19954006279	0.22355	.	.	.	0.119676	0.44138	T	-0.336867	0.05608	T	-0.721662	0.04715	T	0.0796661600470543	0.09943	T	0.69863	0.30863	T	0.034879714	0.04001	0.093172565	0.21994	0.034879714	0.04001	0.093172565	0.21993	-3.521	0.16727	T	.	.	0.158	0.34949	B	.	.	0.840487	0.12120	8.673	0.80669705967739813	0.13312	0.64434	0.32406	D	AEFI	0.131428	0.25036	N	-0.974096222241832	0.09159	0.4323572	-0.954286185025139	0.10824	0.5476554	0.0029963270333614	0.09855	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.586402	0.36253	0	.	.	5.16	-6.98	0.01454	0.167000	0.16419	0.396000	0.17945	-0.241000	0.07509	0.882000	0.31029	0.767000	0.26670	0.976000	0.56436	0.1402:0.1105:0.6398:0.1095	8.727	0.33637	819	0.41190	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.3421	1158.48	77	chr6	87418396	.	G	C	1158.48	.	AC=13;AF=0.342;AN=38;BaseQRankSum=-1.018e+00;DP=1449;ExcessHet=12.7758;FS=261.195;InbreedingCoeff=-0.5695;MLEAC=15;MLEAF=0.395;MQ=60.00;MQRankSum=0.00;QD=1.28;ReadPosRankSum=1.16;SOR=11.932	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:60,29:92:40:.:.:40,0,813	6	0	13	2
chr6	106519808	106519808	A	G	exonic	CRYBG1	.	nonsynonymous SNV	CRYBG1:NM_001624:exon2:c.A1376G:p.E459G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07	T	0.058	B	0.028	B	0.107	N	1.000	D	1.905	M	-0.78	T	-0.814	T	0.187	T	0.169	2.694	14.97	3.8	0.567	1.196	8.032	0.144	0.0212202703183	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.841e-07	1.368e-06	1.361e-06	0	.	0	0	.	.	0	0	0	0	0	0	0	1.656e-05	0	0	6.567e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.041	0.41915	D	0.024	0.56640	D	0.058	0.22967	B	0.028	0.21332	B	0.107070	0.19586	N	0.380172	0.557233	0.32183	D	.	.	.	-0.78	0.73631	T	-2.54	0.55025	D	0.097	0.10911	-0.8137	0.54325	T	0.187	0.53661	T	10	0.1305852	0.24851	T	0.02122	0.43954	T	0.144	0.38394	0.179	0.08626	0.592657251108	0.58943	0.20336707025620981	0.20253	0.104194873104	0.11789	0.325799465179	0.14299	T	0.081868	0.36696	T	-0.118302	0.33402	T	-0.407709	0.32489	T	0.300546569306755	0.25027	T	0.618838	0.23746	T	0.092914574	0.21811	0.09735285	0.23168	0.092914574	0.21811	0.09735285	0.23168	-3.752	0.20089	T	.	.	0.097	0.15966	B	.;.	.;.	2.477978	0.31950	18.90	0.99576274927560871	0.72742	0.38129	0.25918	N	ALL	0.125869	0.24257	N	-0.484201288877734	0.22598	1.207777	-0.403719046959895	0.24887	1.365423	1.0	0.98316	0.562547	0.31514	0	0.093493	0.02558	3	0.608524	0.38960	0	0.635551	0.53088	0	.	.	6.17	3.8	0.42887	1.200000	0.31854	5.432000	0.48595	-0.050000	0.17177	0.822000	0.30018	1.000000	0.68203	0.001000	0.02609	0.8418:0.0:0.1582:0.0	8.032	0.29632	863	0.32847	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.04762	236.14	145	chr6	106519808	.	A	G	236.14	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-4.710e+00;DP=1384;ExcessHet=0.1072;FS=130.644;InbreedingCoeff=-0.0513;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=0.74;ReadPosRankSum=0.890;SOR=9.308	GT:AD:DP:GQ:PL	0/1:145,25:170:41:41,0,3735	19	0	2	0
chr6	116647594	116647594	A	G	exonic	ZUP1	.	nonsynonymous SNV	ZUP1:NM_001361191:exon7:c.T745C:p.F249L	.	.	434	1081	7	0	0	7	0.00322729	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.14	T	1.0	D	0.998	D	0.000	D	1.000	D	2.64	M	1.46	T	-0.827	T	0.161	T	0.828	4.022	20.6	5.38	2.040	7.898	15.390	0.556	0.0406505107575	.	0.000599042	0.0007	0	8.737e-05	0	0	0.0004	0.0022	0.0034	0.0007115	110	154602	rs202076827	0.0008	0.0008	0.0008	0.0009	0.0038	0.0008	0.0008	0.0035	0.0033	9.136e-05	0.0001	0	0	3.874e-05	0.0002	0.0007	0.0008	0.0038	0.0004	0.0004	0.0003	0.0004	0.0033	0.0003	0.0003	0.0021	0.0017	7.218e-05	0	6.537e-05	0	0.0002	0	0	0.0005	0.0009	0.0033	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.998	0.88582	D	0.000001	0.84330	D	0.096896	1	0.81001	D	.	.	.	1.46	0.32238	T	-4.62	0.79143	D	0.9	0.90025	-0.8271	0.53486	T	0.161	0.49548	T	10	0.08332977	0.13849	T	0.040651	0.59492	D	0.556	0.81717	0.923	0.98673	0.579989844333	0.57669	0.6981242584125804	0.69753	0.335070030475	0.35518	0.773930847645	0.78013	T	0.234153	0.60112	T	-0.12039	0.33059	T	0.0528192	0.73770	D	0.278708964032675	0.24117	T	0.892711	0.62952	D	0.9727121	0.98507	0.9407066	0.97814	0.9727121	0.98507	0.9407066	0.97814	-13.055	0.89589	D	.	.	0.987	0.92844	P	.	.	4.909861	0.80777	27.4	0.99861269075028813	0.94002	0.98675	0.85440	D	AEFBI	0.908481	0.86384	D	0.677395820120523	0.78149	6.814161	0.615372813571923	0.76055	6.421203	0.999999967284782	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.709663	0.75317	0	0.669	0.65921	0	.	.	5.38	5.38	0.77279	7.933000	0.87098	10.898000	0.84125	0.691000	0.84096	1.000000	0.71638	1.000000	0.68203	0.987000	0.62547	1.0:0.0:0.0:0.0	15.390	0.74455	508	0.75398	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	593.98	42	chr6	116647594	.	A	G	593.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.836;DP=766;ExcessHet=0.0000;FS=2.911;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.88;ReadPosRankSum=0.440;SOR=1.295	GT:AD:DP:GQ:PL	0/1:28,22:50:99:608,0,743	20	0	1	0
chr6	138413032	138413032	A	C	exonic	HEBP2	.	nonsynonymous SNV	HEBP2:NM_001326380:exon4:c.A605C:p.E202A	.	.	431	1090	1	0	0	1	0.000458505	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.000	D	1.000	D	3.275	M	-0.44	T	0.219	D	0.508	D	0.966	4.356	23.0	5.6	2.133	6.051	13.308	0.707	0.0168836605748	0.0015	0.000399361	0.0018	0.0004	0.0008	0	0.0033	0.0024	0	0.0013	0.0018823	291	154602	rs14812	0.0025	0.0025	0.0026	0.0024	0.0028	0.0024	0.0024	0.0027	0.0027	0.0006	0.0009	0.0001	0	0.0039	0.0003	0.0028	0.0022	0.0012	0.0020	0.0020	0.0019	0.0020	0.0029	0.0018	0.0017	0.0026	0.0025	0.0006	0	0.0019	0.0003	0	0.0032	0	0.0029	0.0014	0.0019	.	.	.	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	0.999958	0.81001	D	3.88	0.95983	H	.	.	.	.	.	.	0.902	0.90251	0.219	0.86232	D	0.508	0.81483	D	10	0.14442793	0.27409	T	0.016884	0.38341	T	.	.	.	.	0.305086939656	0.30112	0.9356647979281093	0.93546	0.319439637697	0.34141	0.54482448101	0.45127	T	0.313244	0.68501	T	0.151101	0.69371	D	0.446189	0.93480	D	0.158058207786306	0.17727	T	0.815518	0.47040	T	0.9221307	0.93455	0.83937836	0.90797	0.9221307	0.93456	0.83937836	0.90797	-12.919	0.89026	D	.	.	0.881	0.81543	P	.	.	5.019571	0.83409	28.0	0.99671579316789449	0.78652	0.96786	0.70931	D	AEFBI	0.767157	0.70311	D	0.858684891959273	0.89598	10.03743	0.796180671322718	0.89527	10.01144	0.999999886308125	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.741806	0.99463	0	.	.	5.6	5.6	0.84997	6.299000	0.72744	11.246000	0.90584	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	1.0:0.0:0.0:0.0	13.308	0.59800	889	0.27310	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1176.98	36	chr6	138413032	.	A	C	1176.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.51;DP=797;ExcessHet=0.0000;FS=0.863;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.53;ReadPosRankSum=-4.920e-01;SOR=0.580	GT:AD:DP:GQ:PL	0/1:38,43:81:99:1191,0,967	20	0	1	0
chr6	148343146	148343146	C	G	exonic	SASH1	.	nonsynonymous SNV	SASH1:NM_015278:exon1:c.C79G:p.P27A,	.	.	.	.	.	.	.	.	.	.	.	2338927	Inborn_genetic_diseases	MeSH:D030342,MedGen:C0950123	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	1	T	0.015	B	0.005	B	0.975	N	1.000	N	0.345	N	2.34	T	-0.935	T	0.006	T	0.254	1.381	10.55	2.04	0.346	0.220	6.019	0.030	0.0215485575691	0.0005	0.000199681	0.0008	0	0.0003	0	0.0004	0.0013	0.0014	0	0.0006015	93	154602	rs200427643	0.0010	0.0010	0.0010	0.0009	0.0012	0.0009	0.0009	0.0011	0.0011	0.0003	0.0003	0	0	0.0002	0	0.0012	0.0009	1.164e-05	0.0006	0.0006	0.0005	0.0007	0.0010	0.0005	0.0005	0.0008	0.0007	7.216e-05	0	0.0009	0	0	0.0003	0	0.0010	0.0028	0	1.0	0.00964	T	0.076	0.42614	T	0.015	0.17086	B	0.005	0.11217	B	0.975411	0.07806	N	1.015480	1	0.19363	N	-0.69	0.01958	N	2.34	0.16351	T	-0.39	0.13611	N	0.168	0.17828	-0.9353	0.43349	T	0.006	0.02055	T	10	0.008150458	0.00185	T	0.021549	0.44334	T	0.030	0.07022	.	.	0.156986980423	0.15292	0.14953210293914362	0.14875	0.143089849423	0.16145	0.655293822289	0.60737	T	0.008676	0.07952	T	-0.565783	0.00234	T	-0.631036	0.10336	T	0.0107119501145615	0.00151	T	0.369163	0.08660	T	0.05391816	0.10274	0.08368168	0.19194	0.05391816	0.10273	0.08368168	0.19194	-7.415	0.57010	T	.	.	0.061	0.01161	B	.	.	1.047831	0.14288	10.87	0.64417982127026296	0.07488	0.00839	0.03365	N	AEFDBHCI	0.021557	0.00973	N	-1.17939605662499	0.05311	0.2418528	-1.16901960782543	0.06433	0.3096505	0.999999990673194	0.74766	0.59774	0.34471	0	0.596491	0.49125	0	0.519653	0.09787	0	0.372554	0.06265	0	.	.	2.93	2.04	0.25787	0.062000	0.14264	0.080000	0.14378	0.439000	0.21057	0.061000	0.21800	0.035000	0.21413	0.037000	0.13953	0.0:0.8407:0.0:0.1593	6.019	0.18847	950	0.11238	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1915.98	35	chr6	148343146	.	C	G	1915.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.088e+00;DP=888;ExcessHet=0.0000;FS=0.567;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.64;ReadPosRankSum=-1.160e-01;SOR=0.626	GT:AD:DP:GQ:PL	0/1:96,84:180:99:1930,0,2351	20	0	1	0
chr6	148747509	148747509	G	A	exonic	UST	.	nonsynonymous SNV	UST:NM_005715:exon1:c.G79A:p.G27S,	.	.	425	1069	27	1	0	29	0.0133826	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.56	T	0.018	B	0.017	B	0.173	N	0.999	N	0	N	0.83	T	-0.983	T	0.024	T	0.074	0.331	5.793	3.23	0.644	2.520	11.592	0.042	.	0.0033	0.00159744	0.0085	0.0008	0.0109	0	0	0.0124	0.0172	0.0071	0.0027749	429	154602	rs188909023	0.0058	0.0057	0.0059	0.0058	0.0098	0.0057	0.0057	0.0076	0.0068	0.0011	0.0037	0.0016	8.915e-05	0.0010	0.0098	0.0066	0.0067	0.0044	0.0041	0.0041	0.0041	0.0042	0.0071	0.0039	0.0038	0.0066	0.0064	0.0010	0	0.0047	0.0012	0	0.0008	0.0136	0.0071	0.0043	0.0017	0.715	0.03984	T	0.309	0.19782	T	0.018	0.17786	B	0.017	0.18140	B	0.173032	0.17320	N	0.512100	0.998604	0.22043	N	0	0.06538	N	0.83	0.47815	T	0.04	0.06488	N	0.154	0.15888	-0.9827	0.34375	T	0.024	0.10329	T	10	0.003916621	0.00075	T	.	.	.	0.042	0.11227	.	.	0.082315109003	0.07666	0.2743243772125405	0.27345	0.365907966095	0.38182	0.739475011826	0.72895	T	0.01016	0.09196	T	-0.628902	0.00097	T	-0.672005	0.07480	T	0.00108362783634392	0.00010	T	0.636336	0.25008	T	0.03447396	0.03876	0.055258553	0.09658	0.03447396	0.03876	0.055258553	0.09657	-4.067	0.24802	T	.	.	0.091	0.13174	B	.	.	1.464980	0.18879	13.97	0.76022364484432137	0.11302	0.59258	0.30866	D	AEFDGBHCI	0.215033	0.34043	N	-0.776347744357883	0.13928	0.6898054	-0.694113931382895	0.17107	0.9081451	0.999999999982714	0.74766	0.652421	0.48094	0	0.748881	0.99253	0	0.52208	0.10781	0	0.56751	0.32155	0	.	.	4.15	3.23	0.36150	0.752000	0.26027	4.785000	0.44861	-0.179000	0.10443	0.072000	0.22128	1.000000	0.68203	0.292000	0.24309	0.0:0.0:0.8132:0.1868	11.592	0.50209	944	0.12746	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	619.98	41	chr6	148747509	.	G	A	619.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.44;DP=757;ExcessHet=0.0000;FS=1.149;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.48;ReadPosRankSum=-1.650e-01;SOR=0.877	GT:AD:DP:GQ:PL	0/1:21,25:46:99:634,0,458	20	0	1	0
chr6	152331115	152331115	C	G	exonic	SYNE1	.	nonsynonymous SNV	SYNE1:NM_033071:exon77:c.G13357C:p.V4453L	Emery-Dreifuss muscular dystrophy 4, autosomal dominant, Autosomal dominant;Spinocerebellar ataxia, autosomal recessive 8, Autosomal recessive	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.61	T	0.005	B	0.013	B	0.325	N	1.000	D	0	N	1.38	T	-0.982	T	0.014	T	0.053	0.267	5.442	0.886	-0.126	1.362	6.318	0.031	0.00754825800838	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	0.034	0.53072	D	0.003	0.11197	B	0.004	0.10090	B	0.325020	0.14208	N	0.660669	1	0.81001	D	0.69	0.16971	N	1.38	0.34050	T	-0.86	0.23372	N	0.117	0.11340	-0.9824	0.34445	T	0.014	0.05513	T	10	0.042183667	0.02943	T	0.007548	0.20033	T	0.031	0.07369	0.323	0.30387	0.170165803431	0.16609	0.20548542717459714	0.20465	0.130822632684	0.14758	0.293257117271	0.09399	T	0.127862	0.45515	T	-0.311759	0.07593	T	-0.685596	0.06647	T	0.025374189688588	0.01322	T	0.79652	0.44001	T	0.047435828	0.08107	0.051205635	0.08193	0.047435828	0.08107	0.051205635	0.08192	-0.288	0.00468	T	.	.	0.131	0.28145	B	.;.	.;.	0.577523	0.09458	6.239	0.69415960505877994	0.08965	0.95287	0.64137	D	AEFDBI	0.517551	0.54362	D	-0.98190325063367	0.08989	0.4236828	-0.848130851139563	0.13332	0.6910612	0.0729640935166664	0.15619	0.554377	0.28877	0	0.573888	0.26702	0	0.573888	0.23631	0	0.567892	0.33627	0	.	.	6.03	0.886	0.18329	1.409000	0.34288	-0.077000	0.12225	-0.313000	0.06017	1.000000	0.71638	0.000000	0.08366	0.599000	0.31363	0.0:0.5304:0.1169:0.3527	6.318	0.20409	847	0.35998	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	718.73	89	chr6	152331115	.	C	G	718.73	.	AC=6;AF=0.200;AN=30;BaseQRankSum=-4.924e+00;DP=3151;ExcessHet=1.7912;FS=264.883;InbreedingCoeff=-0.2612;MLEAC=7;MLEAF=0.233;MQ=60.00;MQRankSum=0.00;QD=0.72;ReadPosRankSum=1.87;SOR=10.735	GT:AD:DP:GQ:PL	0/1:121,39:181:99:143,0,2708	9	0	6	6
chr6	167976259	167976342	CAGTGGGGGTCATTACCCCTGCAGTGTGTTGGGAGGAGGAGGCAGTGGGGGTCATTCCCCCTGCAGTGTGTGGGGAGGAGAAGA	-	exonic	HGC6.3	.	nonframeshift deletion	HGC6.3:NM_001129895:exon1:c.311_394del:p.V104_T131del,	.	.	452	926	15	0	129	144	0.00803428	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0043	0.0028	0.0077	0	0	0.0053	0	0.0037	.	.	.	.	0.0001	0.0003	0.0001	0.0001	0.0030	9.78e-05	9.099e-05	0.0017	0.0013	0.0002	0	0	0.0003	0.0002	0.0030	0.0001	0.0001	8.545e-05	0.0002	0.0008	0.0002	0.0003	0.0009	0.0002	0.0002	0.0003	0.0001	2.975e-05	0	0.0003	0.0010	0.0003	0.0003	0.0050	0.0003	0	0.0009	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2381	903.78	88	chr6	167976258	.	GCAGTGGGGGTCATTACCCCTGCAGTGTGTTGGGAGGAGGAGGCAGTGGGGGTCATTCCCCCTGCAGTGTGTGGGGAGGAGAAGA	G,*	903.78	.	AC=1,9;AF=0.024,0.214;AN=42;BaseQRankSum=0.795;DP=1112;ExcessHet=0.0097;FS=23.164;InbreedingCoeff=0.4872;MLEAC=1,9;MLEAF=0.024,0.214;MQ=52.39;MQRankSum=0.079;QD=2.73;ReadPosRankSum=0.126;SOR=1.256	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:3,0,19:22:11:1|0:167976249_AAGGAGGAGGCAGTGGGGGTCATTACCCCTGCAGTGTGTTGGG_A:1299,723,857,0,60,11:167976249	14	0	1	0
chr6	167976258	167976342	GCAGTGGGGGTCATTACCCCTGCAGTGTGTTGGGAGGAGGAGGCAGTGGGGGTCATTCCCCCTGCAGTGTGTGGGGAGGAGAAGA	0	exonic	HGC6.3	.	.	.	.	.	452	926	15	0	129	144	0.00803428	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2381	903.78	88	chr6	167976258	.	GCAGTGGGGGTCATTACCCCTGCAGTGTGTTGGGAGGAGGAGGCAGTGGGGGTCATTCCCCCTGCAGTGTGTGGGGAGGAGAAGA	G,*	903.78	.	AC=1,9;AF=0.024,0.214;AN=42;BaseQRankSum=0.795;DP=1112;ExcessHet=0.0097;FS=23.164;InbreedingCoeff=0.4872;MLEAC=1,9;MLEAF=0.024,0.214;MQ=52.39;MQRankSum=0.079;QD=2.73;ReadPosRankSum=0.126;SOR=1.256	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:3,0,19:22:11:1|0:167976249_AAGGAGGAGGCAGTGGGGGTCATTACCCCTGCAGTGTGTTGGG_A:1299,723,857,0,60,11:167976249	14	0	1	0
chr6	167976273	167976273	A	0	exonic	HGC6.3	.	.	.	.	.	664	522	164	53	119	389	0.205479	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4	3195.59	88	chr6	167976273	.	A	*,C	3195.59	.	AC=10,6;AF=0.250,0.150;AN=40;BaseQRankSum=0.163;DP=1063;ExcessHet=1.8260;FS=13.368;InbreedingCoeff=0.0227;MLEAC=10,5;MLEAF=0.250,0.125;MQ=55.81;MQRankSum=-3.188e+00;QD=4.92;ReadPosRankSum=0.937;SOR=0.885	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:3,19,0:22:11:1|0:167976249_AAGGAGGAGGCAGTGGGGGTCATTACCCCTGCAGTGTGTTGGG_A:1299,0,11,1049,115,1150:167976249	7	3	4	1
chr6	167976287	167976287	T	0	exonic	HGC6.3	.	.	.	.	.	7	149	13	0	57	70	0.0418006	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	711.4	88	chr6	167976287	.	T	G,*	711.4	.	AC=2,8;AF=0.050,0.200;AN=40;BaseQRankSum=0.231;DP=1079;ExcessHet=0.2410;FS=14.973;InbreedingCoeff=0.2323;MLEAC=2,8;MLEAF=0.050,0.200;MQ=55.12;MQRankSum=2.13;QD=1.96;ReadPosRankSum=-5.620e-01;SOR=1.152	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:3,0,19:22:11:1|0:167976249_AAGGAGGAGGCAGTGGGGGTCATTACCCCTGCAGTGTGTTGGG_A:1299,1049,1150,0,115,11:167976249	12	0	2	1
chr6	167976288	167976288	T	0	exonic	HGC6.3	.	.	.	.	.	556	780	60	5	121	191	0.0429448	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	677.4	88	chr6	167976288	.	T	G,*	677.4	.	AC=2,8;AF=0.050,0.200;AN=40;BaseQRankSum=1.98;DP=1079;ExcessHet=0.2410;FS=14.840;InbreedingCoeff=0.2323;MLEAC=2,8;MLEAF=0.050,0.200;MQ=54.99;MQRankSum=2.13;QD=1.88;ReadPosRankSum=-6.700e-01;SOR=1.164	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:3,0,19:22:11:1|0:167976249_AAGGAGGAGGCAGTGGGGGTCATTACCCCTGCAGTGTGTTGGG_A:1299,1049,1150,0,115,11:167976249	12	0	2	1
chr6	167976297	167976297	G	0	exonic	HGC6.3	.	.	.	.	.	4	213	8	0	1	9	0.0184332	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1053	597.91	88	chr6	167976297	.	G	A,*	597.91	.	AC=2,2;AF=0.053,0.053;AN=38;BaseQRankSum=0.024;DP=1081;ExcessHet=0.7148;FS=12.133;InbreedingCoeff=0.0153;MLEAC=2,2;MLEAF=0.053,0.053;MQ=54.37;MQRankSum=-2.210e-01;QD=3.36;ReadPosRankSum=1.13;SOR=1.385	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:3,0,19:22:11:1|0:167976249_AAGGAGGAGGCAGTGGGGGTCATTACCCCTGCAGTGTGTTGGG_A:1299,1049,1150,0,115,11:167976249	15	0	2	2
chr6	167976300	167976300	G	A	exonic	HGC6.3	.	nonsynonymous SNV	HGC6.3:NM_001129895:exon1:c.C353T:p.A118V,	.	.	459	1006	40	3	14	60	0.0223518	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0086	0.0041	0.0241	0.0088	0.0294	0.0098	0.0152	0.0028	0.0001153	3	26028	rs1453684562	0.0001	0.0008	9.497e-05	0.0001	0.0005	8.734e-05	8.111e-05	0.0003	0.0003	0	0.0004	0	0.0003	0.0009	0.0003	5.814e-05	0.0001	0.0005	0.0020	0.0089	0.0018	0.0022	0.0027	0.0017	0.0017	0.0018	0.0016	0.0022	0.0017	0.0018	0.0019	0.0021	0.0020	0	0.0018	0.0035	0.0027	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	597.19	88	chr6	167976300	.	G	A,*	597.19	.	AC=2,2;AF=0.050,0.050;AN=40;BaseQRankSum=-4.180e-01;DP=1080;ExcessHet=0.7148;FS=12.133;InbreedingCoeff=0.0450;MLEAC=2,2;MLEAF=0.050,0.050;MQ=54.43;MQRankSum=-2.210e-01;QD=3.35;ReadPosRankSum=1.03;SOR=1.385	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:3,0,19:22:11:1|0:167976249_AAGGAGGAGGCAGTGGGGGTCATTACCCCTGCAGTGTGTTGGG_A:1299,1049,1150,0,115,11:167976249	16	0	2	1
chr6	167976300	167976300	G	0	exonic	HGC6.3	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	597.19	88	chr6	167976300	.	G	A,*	597.19	.	AC=2,2;AF=0.050,0.050;AN=40;BaseQRankSum=-4.180e-01;DP=1080;ExcessHet=0.7148;FS=12.133;InbreedingCoeff=0.0450;MLEAC=2,2;MLEAF=0.050,0.050;MQ=54.43;MQRankSum=-2.210e-01;QD=3.35;ReadPosRankSum=1.03;SOR=1.385	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:3,0,19:22:11:1|0:167976249_AAGGAGGAGGCAGTGGGGGTCATTACCCCTGCAGTGTGTTGGG_A:1299,1049,1150,0,115,11:167976249	16	0	2	1
chr6	167976307	167976307	G	A	exonic	HGC6.3	.	nonsynonymous SNV	HGC6.3:NM_001129895:exon1:c.C346T:p.P116S,	.	.	445	1037	25	1	14	41	0.012851	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0044	0.0018	0.0035	0.0022	0.0278	0.0059	0	0	0.0003622	56	154602	rs71573433	1.516e-05	0.0002	1.454e-05	1.583e-05	0.0003	8.79e-06	6.88e-06	7.2e-06	2.69e-06	0	0	0	0.0003	0.0003	0	5.095e-06	0	4.341e-05	0.0006	0.0041	0.0005	0.0008	0.0009	0.0005	0.0005	0.0006	0.0005	0.0004	0.0013	0.0009	0.0010	0.0009	0.0002	0	0.0008	0.0011	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	568.19	88	chr6	167976307	.	G	A,*	568.19	.	AC=2,2;AF=0.050,0.050;AN=40;BaseQRankSum=0.023;DP=1085;ExcessHet=0.7148;FS=7.899;InbreedingCoeff=0.0450;MLEAC=2,2;MLEAF=0.050,0.050;MQ=53.39;MQRankSum=-2.210e-01;QD=3.17;ReadPosRankSum=1.11;SOR=1.165	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:3,0,19:22:11:1|0:167976249_AAGGAGGAGGCAGTGGGGGTCATTACCCCTGCAGTGTGTTGGG_A:1299,1049,1150,0,115,11:167976249	16	0	2	1
chr6	167976307	167976307	G	0	exonic	HGC6.3	.	.	.	.	.	445	1037	25	1	14	41	0.012851	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	568.19	88	chr6	167976307	.	G	A,*	568.19	.	AC=2,2;AF=0.050,0.050;AN=40;BaseQRankSum=0.023;DP=1085;ExcessHet=0.7148;FS=7.899;InbreedingCoeff=0.0450;MLEAC=2,2;MLEAF=0.050,0.050;MQ=53.39;MQRankSum=-2.210e-01;QD=3.17;ReadPosRankSum=1.11;SOR=1.165	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:3,0,19:22:11:1|0:167976249_AAGGAGGAGGCAGTGGGGGTCATTACCCCTGCAGTGTGTTGGG_A:1299,1049,1150,0,115,11:167976249	16	0	2	1
chr6	167976329	167976329	T	0	exonic	HGC6.3	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3125	8324.06	88	chr6	167976329	.	T	G,*	8324.06	.	AC=9,1;AF=0.281,0.031;AN=32;BaseQRankSum=2.86;DP=1186;ExcessHet=0.0120;FS=13.202;InbreedingCoeff=0.2945;MLEAC=11,1;MLEAF=0.344,0.031;MQ=51.60;MQRankSum=0.844;QD=22.68;ReadPosRankSum=0.073;SOR=1.243	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:3,13,0:16:30:0|1:167976249_AAGGAGGAGGCAGTGGGGGTCATTACCCCTGCAGTGTGTTGGG_A:1110,0,30,529,64,612:167976249	9	3	3	5
chr6	170561952	170561952	A	0	exonic	TBP	.	.	.	Spinocerebellar ataxia 17, Autosomal dominant	.	48	390	47	5	1032	1089	0.0681004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.8333	942.0	42	chr6	170561952	.	A	*,G	942.0	.	AC=35,1;AF=0.833,0.024;AN=42;BaseQRankSum=0.00;DP=3619;ExcessHet=0.1217;FS=0.775;InbreedingCoeff=0.2222;MLEAC=35,1;MLEAF=0.833,0.024;MQ=60.00;MQRankSum=0.00;QD=0.75;ReadPosRankSum=1.62;SOR=0.586	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,68,0:68:99:1|1:170561949_GCAA_G:2807,207,0,2808,208,2809:170561949	1	15	4	0
chr6	170561964	170561964	G	0	exonic	TBP	.	.	.	Spinocerebellar ataxia 17, Autosomal dominant	.	68	560	433	93	368	987	0.355952	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5526	18848.46	88	chr6	170561964	.	G	*,A	18848.46	.	AC=7,16;AF=0.184,0.421;AN=38;BaseQRankSum=-8.830e-01;DP=3263;ExcessHet=5.5923;FS=1.104;InbreedingCoeff=-0.3506;MLEAC=7,17;MLEAF=0.184,0.447;MQ=59.96;MQRankSum=0.00;QD=10.91;ReadPosRankSum=2.22;SOR=0.574	GT:AD:DP:GQ:PGT:PID:PL:PS	2|2:0,0,104:104:99:1|1:170561949_GCAA_G:4251,3538,3386,312,311,0:170561949	1	1	3	2
chr7	290724	290724	A	G	exonic	FOXL3	.	nonsynonymous SNV	FOXL3:NM_001374838:exon2:c.A179G:p.D60G,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.63e-05	0.0011	6.045e-05	3.178e-05	0.0001	3.646e-05	3.338e-05	4.892e-05	3.359e-05	0.0001	0	0	0	0	0	4.873e-05	7.462e-05	3.043e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.69150114	0.71883	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.847515	0.52873	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.529	0.65890	A	.	.	3.722634	0.53211	23.3	0.87352862521545771	0.17166	0.97287	0.73806	D	AEFDBI	.	.	.	.	.	.	.	.	.	0.999893991610557	0.45129	0.11394	0.02926	0	0.063388	0.01293	0	0.125351	0.03401	0	0.109499	0.03221	0	0.824066	0.49261	4.4	4.4	0.52402	8.347000	0.89966	9.080000	0.78714	0.555000	0.28237	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	1.0:0.0:0.0:0.0	13.617	0.61584	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	74.31	37	chr7	290724	.	A	G	74.31	.	AC=4;AF=0.100;AN=40;BaseQRankSum=-1.580e+00;DP=650;ExcessHet=0.6776;FS=103.212;InbreedingCoeff=-0.1064;MLEAC=2;MLEAF=0.050;MQ=60.00;MQRankSum=0.00;QD=0.53;ReadPosRankSum=-8.760e-01;SOR=7.340	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:29,6:35:82:0|1:290724_A_G:82,0,888:290724	16	0	4	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3684	1537.51	38	chr7	290725	.	C	G	1537.51	.	AC=14;AF=0.368;AN=38;BaseQRankSum=0.014;DP=729;ExcessHet=15.6281;FS=215.903;InbreedingCoeff=-0.5582;MLEAC=15;MLEAF=0.395;MQ=60.00;MQRankSum=0.00;QD=3.11;ReadPosRankSum=0.300;SOR=10.607	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:29,6:35:82:0|1:290724_A_G:82,0,888:290724	5	0	14	2
chr7	2542173	2542173	A	C	exonic	BRAT1	.	nonsynonymous SNV	BRAT1:NM_001350627:exon6:c.T437G:p.L146R	Rigidity and multifocal seizure syndrome, lethal neonatal, Autosomal recessive	YES	0	1491	30	1	0	32	0.0106171	.	.	363971	not_provided|Neonatal-onset_encephalopathy_with_rigidity_and_seizures|BRAT1-related_disorder|Neurodevelopmental_disorder_with_cerebellar_atrophy_and_with_or_without_seizures	MedGen:C3661900|MONDO:MONDO:0013784,MedGen:C3281029,OMIM:614498,Orphanet:435845|.|MONDO:MONDO:0020841,MedGen:C4748032,OMIM:618056	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0	D	1.0	D	0.997	D	0.000	D	1.000	D	2.19	M	-0.87	T	0.084	D	0.472	T	0.888	3.939	20.1	5.42	2.058	5.474	14.012	0.799	.	0.0048	0.00339457	0.0103	0.0007	0.0094	0	0.0166	0.0155	0.0045	0.0080	0.0036675	567	154602	rs150942467	0.0086	0.0085	0.0086	0.0086	0.0096	0.0084	0.0084	0.0095	0.0094	0.0010	0.0039	0.0037	0	0.0086	0.0077	0.0096	0.0070	0.0062	0.0066	0.0066	0.0069	0.0063	0.0093	0.0062	0.0061	0.0087	0.0085	0.0016	0.0318	0.0077	0.0032	0	0.0106	0.0103	0.0093	0.0057	0.0037	0.001	0.78490	D	0.001	0.83351	D	1.0	0.90584	D	0.997	0.86255	D	0.000000	0.84330	D	0.000000	0.999999	0.58761	D	2.495	0.72670	M	-0.87	0.74583	T	-4.3	0.76496	D	0.924	0.92784	0.084	0.83888	D	0.472	0.79695	T	10	0.020496815	0.00473	T	.	.	.	0.799	0.93425	.	.	0.779192970331	0.77716	0.8486993657309405	0.84830	0.354304652269	0.37210	0.496233224869	0.38303	T	0.137523	0.47051	T	-0.00844316	0.50484	T	0.221493	0.84252	D	0.0193440535127068	0.00639	T	0.782722	0.41876	T	0.79226124	0.83415	0.7237451	0.83684	0.79226124	0.83416	0.7237451	0.83685	-10.099	0.74502	D	0.8584731998218259	0.92261	0.351	0.56664	A	.	.	4.518106	0.70818	25.6	0.99772560332094673	0.86003	0.95447	0.64757	D	AEFGBCI	0.563647	0.57076	D	0.654033638201833	0.76632	6.522163	0.608210816914051	0.75533	6.327763	0.997020771789545	0.35208	0.706548	0.73137	0	0.702456	0.74545	0	0.643519	0.47002	0	0.714379	0.83352	0	.	.	5.42	5.42	0.78666	2.391000	0.44078	11.059000	0.85411	0.751000	0.87719	0.963000	0.33788	1.000000	0.68203	0.788000	0.37229	1.0:0.0:0.0:0.0	14.012	0.64019	946	0.12043	.	.	.	.	.	.	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	0.02381	2434.98	34	chr7	2542173	.	A	C	2434.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.36;DP=932;ExcessHet=0.0000;FS=3.417;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.88;ReadPosRankSum=-2.578e+00;SOR=0.974	GT:AD:DP:GQ:PL	0/1:91,98:189:99:2449,0,2082	20	0	1	0
chr7	5313028	5313028	-	GAGGAT	exonic	TNRC18	.	nonframeshift insertion	TNRC18:NM_001080495:exon27:c.7862_7863insATCCTC:p.S2671_T2672insSS,	.	.	447	380	383	306	6	1001	0.566952	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0170	0.0195	0.0098	0.0052	0	0.0151	0.0270	0.0187	0.0104591	1617	154602	rs768319122	0.0012	0.0023	0.0011	0.0012	0.0020	0.0011	0.0011	0.0017	0.0016	0.0001	0.0008	4.831e-05	0	0.0001	0	0.0013	0.0010	0.0020	0.0010	0.0029	0.0012	0.0008	0.0017	0.0009	0.0008	0.0014	0.0013	0.0004	0	0.0007	0	0.0004	0	0	0.0017	0.0020	0.0009	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6429	16164.21	33	chr7	5313028	.	G	T,GGAGGAT	16164.21	.	AC=27,1;AF=0.643,0.024;AN=42;BaseQRankSum=-6.260e-01;DP=860;ExcessHet=14.4320;FS=0.000;InbreedingCoeff=-0.5000;MLEAC=27,1;MLEAF=0.643,0.024;MQ=59.83;MQRankSum=0.00;QD=19.78;ReadPosRankSum=0.311;SOR=0.716	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:2,45,0:47:99:.:.:1352,125,0,1356,134,1365	0	6	14	0
chr7	5388964	5388964	C	G	exonic	TNRC18	.	nonsynonymous SNV	TNRC18:NM_001080495:exon5:c.G860C:p.G287A,	.	.	405	1116	1	0	0	1	0.000447828	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.31	T	0.953	P	0.794	P	.	.	1.000	N	0.805	L	2.17	T	-1.030	T	0.051	T	0.058	-1.878	0.008	.	0.172	0.195	.	0.026	0.136843085771	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	6.84e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.912	0.02355	T	0.242	0.24334	T	0.953	0.54283	P	0.794	0.57880	P	.	.	.	.	1	0.08975	N	0	0.06538	N	2.17	0.19020	T	-1.15	0.29525	N	0.203	0.22486	-1.0296	0.20583	T	0.051	0.21806	T	7	0.080803305	0.13157	T	0.136843	0.81933	D	0.026	0.05648	0.24	0.17218	0.043077524339	0.03247	0.10457438511022873	0.10387	2.03962625952	0.94218	0.777940154076	0.78617	T	0.020245	0.15973	T	-0.35715	0.04294	T	-0.750797	0.03454	T	0.110293672938015	0.13453	T	0.476852	0.14330	T	0.12739511	0.29813	0.12722869	0.30629	0.12739511	0.29813	0.12722869	0.30629	-3.335	0.14193	T	.	.	0.073	0.04599	B	.;.	.;.	0.465662	0.08354	5.104	0.33341148941386045	0.01981	0.10948	0.16303	N	AEFDBHCI	0.070418	0.13977	N	-0.704356029146436	0.15898	0.8053602	-0.978826124101856	0.10262	0.515679	0.493540544273596	0.20884	0.660377	0.49826	0	0.694456	0.67091	0	0.503968	0.08637	0	0.604944	0.38103	0	.	.	.	.	.	0.195000	0.16960	1.656000	0.27872	0.218000	0.18051	0.005000	0.17040	0.229000	0.23770	0.013000	0.09966	.	.	.	893	0.26510	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	793.98	35	chr7	5388964	.	C	G	793.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.03;DP=825;ExcessHet=0.0000;FS=1.998;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.18;ReadPosRankSum=0.081;SOR=0.995	GT:AD:DP:GQ:PL	0/1:35,36:71:99:808,0,716	20	0	1	0
chr7	6149841	6149841	C	G	exonic	USP42	.	nonsynonymous SNV	USP42:NM_001365764:exon13:c.C1645G:p.P549A	.	.	425	1096	1	0	0	1	0.000455996	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.78	T	0.001	B	0.002	B	0.090	N	1.000	N	1.7	L	2.96	T	-0.937	T	0.025	T	0.17	-0.216	2.955	0.986	-0.081	0.231	6.207	0.052	0.00440850444925	8.3e-05	.	0.0002	0.0002	8.643e-05	0.0005	0	4.496e-05	0	0.0007	0.0001488	23	154602	rs201918410	9.167e-05	9.235e-05	6.534e-05	0.0001	0.0007	7.891e-05	7.366e-05	0.0006	0.0005	0.0002	0.0002	0	0.0004	0	0.0003	3.687e-05	0	0.0007	0.0001	0.0001	0.0002	0.0001	0.0006	9.141e-05	7.698e-05	0.0002	0.0001	0.0003	0	0	0	0.0004	0	0	4.409e-05	0	0.0006	0.264	0.16358	T	0.555	0.09267	T	0.0	0.02946	B	0.002	0.06944	B	0.090380	0.20379	N	0.491622	1	0.08975	N	2.3	0.65703	M	2.54	0.13916	T	-2.42	0.58407	N	0.126	0.11912	-0.9373	0.43041	T	0.025	0.10553	T	10	0.020745367	0.00483	T	0.004409	0.10781	T	0.052	0.14661	.	.	0.0934897674506	0.08844	0.27593550561854074	0.27506	0.0616128790584	0.06866	0.242485046387	0.03018	T	0.04613	0.27331	T	-0.528319	0.00393	T	-0.625585	0.10751	T	0.0196006885629951	0.00663	T	0.327067	0.08068	T	.	.	.	.	.	.	.	.	-3.196	0.12432	T	.	.	0.058	0.03093	B	.;.	.;.	-0.410686	0.02174	0.213	0.47822997118121541	0.03941	0.32433	0.24584	N	AEFDGBI	0.053984	0.09777	N	-1.31060736105724	0.03553	0.1589205	-1.30673189470729	0.04342	0.2046237	0.0526786839556323	0.14914	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	5.93	0.986	0.18902	0.335000	0.19546	.	.	-2.124000	0.00384	0.003000	0.16062	0.000000	0.08366	0.606000	0.31539	0.1026:0.5762:0.2043:0.1169	6.207	0.19819	618	0.66225	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1744.98	33	chr7	6149841	.	C	G	1744.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.192;DP=841;ExcessHet=0.0000;FS=2.047;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.95;ReadPosRankSum=-4.250e-01;SOR=0.762	GT:AD:DP:GQ:PL	0/1:74,72:146:99:1759,0,1845	20	0	1	0
chr7	6757850	6757850	A	G	exonic	RSPH10B;RSPH10B2	.	nonsynonymous SNV	RSPH10B2:NM_001099697:exon3:c.A173G:p.K58R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.36	T	0.012	B	0.009	B	0.706	N	1.000	N	0.55	N	0.49	T	-1.023	T	0.085	T	0.05	0.787	8.149	1.45	0.265	1.290	5.890	0.019	0.00275116685414	.	.	1.717e-05	0	0	0	0	1.526e-05	0.0012	0	3.84e-05	1	26028	rs774500350	1.318e-05	1.302e-05	6.902e-06	1.953e-05	1.364e-05	8.43e-06	6.8e-06	8.19e-06	6.49e-06	0	0	0	0	0	0	1.364e-05	6.751e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.257	0.16738	T	0.409	0.18071	T	0.012	0.16265	B	0.009	0.14300	B	0.705897	0.10054	N	0.857773	1	0.08975	N	0.55	0.14455	N	0.49	0.55775	T	-1.06	0.55181	N	0.074	0.07125	-1.0234	0.22606	T	0.085	0.33071	T	10	0.058695823	0.06939	T	0.002751	0.05694	T	0.019	0.03383	0.289	0.24921	0.0138822411134	0.00435	0.11918721536821006	0.11845	.	.	0.392861962318	0.24072	T	0.003421	0.02829	T	-0.331128	0.06027	T	-0.643581	0.09410	T	0.0247739032828162	0.01243	T	0.29957	0.12454	T	0.032041874	0.03156	0.041214988	0.04634	0.032041874	0.03156	0.041214988	0.04634	-4.352	0.28900	T	.	.	0.069	0.03197	B	.;.;.;.	.;.;.;.	0.580414	0.09490	6.267	0.90891100885274378	0.20140	0.01627	0.05251	N	AEGI	0.042858	0.06702	N	-1.07053823786557	0.07191	0.3332961	-1.11530340663299	0.07407	0.3601967	8.40863297621524E-6	0.01202	0.553676	0.25195	0	0.588015	0.36545	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	2.65	1.45	0.21708	1.348000	0.33592	.	.	0.353000	0.19991	0.058000	0.21700	0.000000	0.08366	0.139000	0.19909	0.8574:0.0:0.1426:0.0	5.890	0.18149	889	0.27310	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	2384.15	40	chr7	6757850	.	A	G	2384.15	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.169e+00;DP=1061;ExcessHet=0.0000;FS=2.976;InbreedingCoeff=-0.0329;MLEAC=1;MLEAF=0.024;MQ=41.17;MQRankSum=-4.006e+00;QD=6.93;ReadPosRankSum=1.79;SOR=0.792	GT:AD:DP:GQ:PL	0/1:216,128:344:99:2398,0,5102	20	0	1	0
chr7	7673314	7673319	AGCAGC	-	splicing	UMAD1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5714	16242.43	19	chr7	7673310	.	TAGCAGCAGC	T,TAGCAGCAGCAGC,TAGC,TAGCAGC,TAGCAGCAGCAGCAGCAGC,TAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	16242.43	.	AC=16,7,3,1,1,1;AF=0.381,0.167,0.071,0.024,0.024,0.024;AN=42;BaseQRankSum=0.257;DP=845;ExcessHet=4.5793;FS=1.329;InbreedingCoeff=-0.2255;MLEAC=16,7,3,1,1,1;MLEAF=0.381,0.167,0.071,0.024,0.024,0.024;MQ=59.96;MQRankSum=0.00;QD=28.25;ReadPosRankSum=-2.670e-01;SOR=0.560	GT:AD:DP:GQ:PL	0/1:12,13,0,0,0,0,0:25:99:510,0,464,547,504,1050,547,504,1050,1050,547,504,1050,1050,1050,547,504,1050,1050,1050,1050,547,504,1050,1050,1050,1050,1050	1	3	5	0
chr7	15560238	15560238	C	G	exonic	AGMO	.	nonsynonymous SNV	AGMO:NM_001004320:exon2:c.G160C:p.E54Q,	.	.	429	1092	1	0	0	1	0.000457666	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.998	D	0.000	D	1.000	D	2.89	M	0.98	T	-0.334	T	0.340	T	0.898	4.636	25.4	5.93	2.805	5.304	20.337	0.338	0.0215119406975	0.0002	0.000199681	0.0001	9.632e-05	0.0003	0	0	0.0001	0	0	0.0001035	16	154602	rs146766067	0.0001	0.0001	0.0002	0.0001	0.0005	0.0001	0.0001	0.0004	0.0003	0.0003	0.0005	0	0	0	0.0003	0.0001	0.0004	5.8e-05	0.0002	0.0002	0.0003	0.0002	0.0003	0.0002	0.0001	0.0002	0.0002	0.0003	0	0.0003	0	0	0	0.0034	0.0002	0.0005	0	0.0	0.91255	D	0.04	0.50809	D	1.0	0.90584	D	0.998	0.88582	D	0.000000	0.84330	D	0.000000	0.999995	0.58761	D	3.33	0.90841	M	0.98	0.42122	T	-2.56	0.55339	D	0.854	0.85027	-0.3338	0.74023	T	0.340	0.70616	T	10	0.759364	0.76226	D	0.021512	0.44288	T	0.338	0.66010	.	.	0.544607969852	0.54114	0.9726830599447898	0.97257	0.00326426103309	0.00279	0.53327703476	0.43496	T	0.515578	0.82959	D	0.035211	0.56416	T	0.114523	0.77872	D	0.303637982986494	0.25154	T	0.882712	0.60367	D	0.6300006	0.74298	0.57432497	0.75342	0.6300006	0.74299	0.57432497	0.75343	-11.86	0.84162	D	.	.	0.839	0.79173	P	.	.	4.318359	0.66070	24.9	0.99808727931394114	0.89264	0.93920	0.59575	D	AEFDBCI	0.769871	0.70499	D	0.889841623800558	0.91252	10.791	0.850441222325945	0.93042	11.78798	0.999999999997771	0.74766	0.495158	0.18159	0	0.573888	0.26702	0	0.573888	0.23631	0	0.75052	0.99595	0	.	.	5.93	5.93	0.95888	5.432000	0.66256	4.036000	0.41382	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.979000	0.57723	0.0:1.0:0.0:0.0	20.337	0.98749	969	0.06854	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1186.98	36	chr7	15560238	.	C	G	1186.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.296;DP=780;ExcessHet=0.0000;FS=0.778;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.76;ReadPosRankSum=0.815;SOR=0.808	GT:AD:DP:GQ:PL	0/1:45,48:93:99:1201,0,1065	20	0	1	0
chr7	21430622	21430622	A	G	exonic	SP4	.	nonsynonymous SNV	SP4:NM_001326542:exon3:c.A1406G:p.Q469R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.15	T	0.963	D	0.341	B	0.000	D	0.990	D	2.11	M	2.81	T	-1.096	T	0.036	T	0.385	2.776	15.24	5.08	2.133	8.761	15.017	0.188	0.00875274594027	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.018	0.50676	D	0.094	0.39645	T	0.963	0.55692	D	0.341	0.42432	B	0.000006	0.62929	D	0.065166	0.990478	0.41167	D	1.975	0.53506	M	2.81	0.10975	T	-1.95	0.45222	N	0.493	0.52651	-1.0960	0.04611	T	0.036	0.15422	T	10	0.5620309	0.64841	D	0.008753	0.23099	T	0.188	0.46444	0.595	0.72494	0.322284741503	0.31843	0.6600931092690547	0.65946	0.182636527527	0.20529	0.830132246017	0.86583	D	0.537979	0.84128	D	-0.110031	0.34764	T	-0.395828	0.33870	T	0.919452369213104	0.57817	D	0.805919	0.45429	T	0.32566908	0.55114	0.30039743	0.56073	0.32566908	0.55114	0.30039743	0.56072	-4.335	0.28664	T	.	.	0.399	0.59505	A	.;.	.;.	4.122258	0.61622	24.4	0.99657063186568362	0.77694	0.95295	0.64167	D	AEFDBCI	0.867030	0.78666	D	0.559398844813437	0.70657	5.533728	0.594833368677408	0.74569	6.159259	0.999999974158056	0.74766	0.722319	0.85440	0	0.672317	0.65289	0	0.698795	0.65105	0	0.605231	0.38476	0	.	.	5.08	5.08	0.68373	5.964000	0.70093	11.287000	0.91924	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	1.0:0.0:0.0:0.0	15.017	0.71258	866	0.32446	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2370.98	44	chr7	21430622	.	A	G	2370.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.675e+00;DP=1050;ExcessHet=0.0000;FS=1.646;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.93;ReadPosRankSum=1.21;SOR=0.652	GT:AD:DP:GQ:PL	0/1:113,104:217:99:2385,0,3042	20	0	1	0
chr7	23260029	23260029	C	G	exonic	GPNMB	.	nonsynonymous SNV	GPNMB:NM_001005340:exon5:c.C591G:p.N197K	.	.	430	1071	15	0	6	21	0.0069541	.	.	722456	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.02	D	1.0	D	0.988	D	0.000	D	1.000	D	2.615	M	2.58	T	-0.999	T	0.104	T	0.36	3.915	19.91	4.98	1.483	2.459	11.039	0.168	0.0341786173716	.	.	0.0017	0.0012	0.0003	0	0	0.0027	0.0011	0.0008	0.0017982	278	154602	rs17147995	0.0040	0.0040	0.0041	0.0038	0.0049	0.0039	0.0039	0.0048	0.0048	0.0006	0.0008	7.653e-05	0	0.0002	0	0.0049	0.0036	0.0007	0.0022	0.0022	0.0022	0.0022	0.0036	0.0020	0.0019	0.0033	0.0031	0.0011	0.0011	0.0026	0	0	9.42e-05	0	0.0036	0.0009	0	0.005	0.63226	D	0.006	0.70582	D	0.999	0.77913	D	0.933	0.66815	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.975	0.85398	M	2.58	0.13434	T	-3.57	0.68999	D	0.746	0.74553	-0.9985	0.30339	T	0.104	0.38316	T	10	0.020676255	0.00480	T	0.034179	0.55498	D	0.168	0.42943	0.505	0.59924	0.558499945537	0.55510	0.6649968231600597	0.66436	0.371821823415	0.38682	0.680262207985	0.64306	T	0.422087	0.77327	T	-0.44022	0.01289	T	-0.406911	0.32582	T	0.0297855465913515	0.01956	T	0.840716	0.52386	T	0.47703093	0.65719	0.4187881	0.65892	0.4407525	0.63451	0.3942808	0.64125	-5.226	0.39205	T	.	.	0.504	0.66532	A	.;.;.	.;.;.	3.672564	0.52235	23.2	0.99819155261617198	0.90238	0.95839	0.66374	D	AEFBI	0.744547	0.68750	D	0.584414928389076	0.72203	5.768671	0.524843655060027	0.69666	5.393095	0.999973074015686	0.50053	0.549168	0.22868	0	0.588015	0.36545	0	0.602189	0.34648	0	0.616125	0.45549	0	.	.	5.85	4.98	0.65679	2.584000	0.45768	3.374000	0.37954	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.755000	0.35964	0.0:0.8586:0.0:0.1414	11.039	0.47035	530	0.73653	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1790.98	35	chr7	23260029	.	C	G	1790.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-9.000e-03;DP=881;ExcessHet=0.0000;FS=1.851;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.06;ReadPosRankSum=-1.179e+00;SOR=0.837	GT:AD:DP:GQ:PL	0/1:99,79:178:99:1805,0,2414	20	0	1	0
chr7	27095695	27095695	C	0	exonic	HOXA1	.	.	.	Athabaskan brainstem dysgenesis syndrome;Bosley-Salih-Alorainy syndrome	.	13	23	341	1132	13	2618	0.982648	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.9286	87514.16	141	chr7	27095695	.	C	T,*	87514.16	.	AC=39,2;AF=0.929,0.048;AN=42;BaseQRankSum=2.30;DP=3040;ExcessHet=0.0000;FS=1.549;InbreedingCoeff=-0.0244;MLEAC=39,2;MLEAF=0.929,0.048;MQ=60.00;MQRankSum=0.00;QD=30.42;ReadPosRankSum=-1.188e+00;SOR=0.761	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,162,0:162:99:.:.:5385,486,0,5385,486,5385	0	18	1	0
chr7	38384865	38384865	T	A	exonic	AMPH	.	nonsynonymous SNV	AMPH:NM_139316:exon20:c.A1915T:p.T639S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.23	T	0.21	B	0.212	B	0.002	N	1.000	N	-0.585	N	0.96	T	-1.035	T	0.039	T	0.357	0.549	6.968	-0.8	-0.070	0.773	4.340	0.041	0.00671816000782	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.841e-07	6.84e-07	0	1.375e-06	0.0002	0	0	.	.	0	0	0	0	0	0.0002	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.589	0.06606	T	0.516	0.12957	T	0.0	0.11197	B	0.003	0.12992	B	0.001557	0.38671	N	0.287773	0.999987	0.18198	N	-0.895	0.01383	N	0.96	0.42888	T	0.05	0.06369	N	0.127	0.12055	-1.0353	0.18762	T	0.039	0.16720	T	10	0.085782886	0.14516	T	0.006718	0.17756	T	0.054	0.15330	0.56	0.67958	0.582891127894	0.57961	0.2392565756620707	0.23839	0.171722290454	0.19340	0.407781898975	0.26150	T	0.05999	0.31265	T	-0.179623	0.23791	T	-0.495792	0.22784	T	0.0788334831595421	0.09837	T	0.69753	0.30746	T	0.07553879	0.17026	0.03478683	0.02607	0.07553879	0.17025	0.03478683	0.02607	-5.778	0.44382	T	.	.	0.127	0.27100	B	.;.	.;.	1.245500	0.16417	12.53	0.76954453870059991	0.11677	0.25907	0.22838	N	AEFBI	0.140091	0.26190	N	-0.906253471740123	0.10695	0.512328	-0.763415409157996	0.15393	0.809356	0.7896567433361	0.23992	0.75658	0.98901	0	0.547309	0.14657	0	0.709663	0.75317	0	0.656636	0.63459	0	.	.	5.56	-0.8	0.10347	0.768000	0.26252	-0.692000	0.07835	-0.169000	0.11342	0.627000	0.27974	0.010000	0.20010	0.968000	0.53726	0.2386:0.3191:0.0:0.4424	4.340	0.10544	867	0.32089	.;SH3 domain|SH3 domain|Amphiphysin I, SH3 domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	961.98	40	chr7	38384865	.	T	A	961.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.29;DP=812;ExcessHet=0.0000;FS=3.661;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.83;ReadPosRankSum=-9.260e-01;SOR=0.872	GT:AD:DP:GQ:PL	0/1:68,41:109:99:976,0,1635	20	0	1	0
chr7	44114181	44114181	A	0	exonic	AEBP1	.	.	.	.	.	0	89	99	37	1	174	0.492877	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4286	36873.42	35	chr7	44114181	.	A	G,*	36873.42	.	AC=18,1;AF=0.429,0.024;AN=42;BaseQRankSum=-9.170e-01;DP=2196;ExcessHet=0.0777;FS=0.000;InbreedingCoeff=0.3272;MLEAC=18,1;MLEAF=0.429,0.024;MQ=60.00;MQRankSum=0.00;QD=19.92;ReadPosRankSum=-2.890e-01;SOR=0.719	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:76,73,0:149:99:.:.:1778,0,1928,2006,2146,4152	8	5	7	0
chr7	47829596	47829596	G	C	exonic	PKD1L1	.	nonsynonymous SNV	PKD1L1:NM_138295:exon44:c.C6564G:p.C2188W,	Heterotaxy, visceral, 8, autosomal, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.19	T	0.995	D	0.547	P	0.460	N	1.000	N	1.39	L	2.15	T	-1.059	T	0.048	T	0.465	2.843	15.47	1.54	0.218	0.068	6.370	0.080	0.00311672116924	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	4.788e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.186	0.21467	T	0.184	0.29056	T	0.995	0.67487	D	0.547	0.49095	P	0.460342	0.12399	N	0.747174	0.999995	0.08975	N	1.67	0.42885	L	2.15	0.19311	T	-2.36	0.52128	N	0.296	0.33469	-1.0591	0.11981	T	0.048	0.20672	T	10	0.36171162	0.52784	T	0.003117	0.06786	T	0.080	0.23350	0.552	0.66856	0.273070737957	0.26916	0.2536045200721503	0.25274	0.410098164805	0.41806	0.397005200386	0.24651	T	0.34704	0.71522	T	-0.171564	0.25000	T	-0.484216	0.23999	T	0.452246865480397	0.30879	T	0.463454	0.13490	T	0.08204342	0.18882	0.115264766	0.27824	0.08204342	0.18881	0.115264766	0.27823	-7.376	0.56735	T	0.21312292306990016	0.28611	0.462	0.62816	A	.	.	2.025831	0.25746	16.87	0.98535746284117109	0.42657	0.03107	0.08041	N	AEFDBI	0.085021	0.17234	N	-0.32621816442702	0.28156	1.55065	-0.474339133563733	0.22864	1.243968	0.99995617926297	0.48110	0.516011	0.20929	0	0.59043	0.45803	0	0.547309	0.15389	0	0.586402	0.36253	0	.	.	4.21	1.54	0.22290	0.128000	0.15636	1.147000	0.24451	0.676000	0.76740	0.000000	0.06391	0.003000	0.18671	0.870000	0.41412	0.3084:0.0:0.6916:0.0	6.370	0.20682	940	0.13648	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.5	5979.44	105	chr7	47829596	.	G	C,A	5979.44	.	AC=17,3;AF=0.425,0.075;AN=40;BaseQRankSum=-3.700e-02;DP=2719;ExcessHet=43.6797;FS=321.470;InbreedingCoeff=-0.9530;MLEAC=18,3;MLEAF=0.450,0.075;MQ=60.00;MQRankSum=0.00;QD=2.79;ReadPosRankSum=-7.300e-02;SOR=13.486	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:70,49,0:119:99:.:.:417,0,1054,608,1186,1794	0	0	17	1
chr7	48107077	48107077	A	G	exonic	UPP1	.	nonsynonymous SNV	UPP1:NM_001287429:exon4:c.A230G:p.Y77C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.000	D	1.000	D	3.505	H	0.53	T	0.149	D	0.462	T	0.986	4.713	26.2	5.9	2.251	9.098	15.513	0.804	0.0490220226188	.	.	8.263e-06	0	8.669e-05	0	0	0	0	0	6.5e-06	1	154602	.	1.576e-05	1.573e-05	1.091e-05	2.066e-05	0.0002	1.049e-05	8.77e-06	5.401e-05	4.046e-05	2.993e-05	6.709e-05	0	0	1.876e-05	0.0002	7.196e-06	0	0.0001	6.572e-06	6.567e-06	1.285e-05	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0.0005	0	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.998	0.88582	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.89	0.83701	M	0.53	0.55090	T	-8.92	0.97954	D	0.988	0.99611	0.149	0.85035	D	0.462	0.79156	T	10	0.9355799	0.92889	D	0.049022	0.63632	D	0.804	0.93621	0.739	0.87147	0.892661941767	0.89160	0.959962342279998	0.95982	0.623551032226	0.56587	0.774495899677	0.78099	T	0.815282	0.95426	D	0.197953	0.73701	D	0.249223	0.85585	D	0.974130868911743	0.70382	D	0.972103	0.89869	D	0.9575878	0.97036	0.9327763	0.97285	0.9575878	0.97037	0.9327763	0.97285	-14.239	0.93807	D	.	.	0.764	0.77315	P	.;.	.;.	5.240330	0.87974	29.4	0.99840800455528811	0.92143	0.97108	0.72736	D	AEFDGBHCI	0.956954	0.97584	D	1.00617185178452	0.95930	14.11684	0.946861448264936	0.97309	15.91555	0.999999999999999	0.74766	0.706298	0.61202	0	0.709663	0.81188	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.9	5.9	0.94952	9.170000	0.93942	11.037000	0.85129	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	1.0:0.0:0.0:0.0	15.513	0.75536	809	0.43032	Nucleoside phosphorylase domain;Nucleoside phosphorylase domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1291.98	34	chr7	48107077	.	A	G	1291.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.770e-01;DP=810;ExcessHet=0.0000;FS=2.875;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.07;ReadPosRankSum=-6.690e-01;SOR=0.426	GT:AD:DP:GQ:PL	0/1:58,49:107:99:1306,0,1658	20	0	1	0
chr7	48338456	48338456	G	T	splicing	ABCA13	NM_152701:exon29:c.10204+1G>T	.	.	.	.	.	.	.	.	.	.	.	1.0000	0.908	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.000	D	.	.	.	.	.	.	.	.	.	1.829	12.08	5.43	2.527	5.013	14.744	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.175163	0.71597	D	0.0138328	0.71230	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.193351	0.87108	29.1	0.9881633628266856	0.46704	0.92828	0.56645	D	AEFBI	.	.	.	0.916219387772681	0.92530	11.47691	0.707411419357092	0.82942	7.89355	0.240200936391204	0.18562	0.061011	0.01085	0	0.063388	0.01293	0	0.063197	0.01477	0	0.057018	0.00518	0	0.966976	0.69657	5.43	5.43	0.79006	4.884000	0.62827	11.576000	0.93313	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.693000	0.33928	0.0:0.0:1.0:0.0	14.744	0.69095	660	0.61921	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	748.98	35	chr7	48338456	.	G	T	748.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.033e+00;DP=776;ExcessHet=0.0000;FS=1.791;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.02;ReadPosRankSum=0.602;SOR=0.780	GT:AD:DP:GQ:PL	0/1:44,39:83:99:763,0,943	20	0	1	0
chr7	50368104	50368104	C	G	exonic	IKZF1	.	nonsynonymous SNV	IKZF1:NM_001291845:exon4:c.C259G:p.L87V,	Immunodeficiency, common variable, 13, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.001	B	0.002	B	.	.	1.000	N	.	.	.	.	-1.000	T	0.055	T	0.083	0.343	5.860	-8.46	-2.174	-2.702	2.202	0.011	0.00431561606013	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	.	.	.	0.001	0.07471	B	0.002	0.06944	B	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	-0.5	0.15782	N	0.11	0.09631	-0.9997	0.30002	T	0.055	0.23375	T	7	0.043260276	0.03157	T	0.004316	0.10467	T	0.011	0.01250	0.272	0.22210	0.117191471859	0.11215	.	.	.	.	.	.	.	0.054479	0.29735	T	-0.291109	0.09525	T	-0.655934	0.08543	T	0.052731511290539	0.05973	T	0.256674	0.04023	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.239	0.47294	B	.	.	-1.396602	0.00363	0.007	0.40883805656463257	0.02914	0.00305	0.01619	N	AEFGBIJ	0.028154	0.02430	N	-1.474115124829	0.02034	0.08940394	-1.65084572243601	0.01371	0.06194978	0.999999998577604	0.74766	0.51972	0.21558	0	0.522029	0.08744	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	4.23	-8.46	0.00822	-2.694000	0.00900	-2.250000	0.03997	-0.184000	0.09925	0.000000	0.06391	0.000000	0.08366	0.068000	0.16518	0.4857:0.2045:0.187:0.1228	2.202	0.03687	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.3438	2447.51	210	chr7	50368104	.	C	G	2447.51	.	AC=11;AF=0.344;AN=32;BaseQRankSum=-4.605e+00;DP=3458;ExcessHet=7.7275;FS=209.069;InbreedingCoeff=-0.4848;MLEAC=13;MLEAF=0.406;MQ=60.00;MQRankSum=0.00;QD=1.31;ReadPosRankSum=1.84;SOR=13.326	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:112,48:160:99:.:.:123,0,2032	5	0	11	5
chr7	74338861	74338861	C	T	exonic	CLIP2	.	nonsynonymous SNV	CLIP2:NM_003388:exon3:c.C535T:p.P179S	.	.	430	1063	26	3	0	32	0.0148285	.	.	700213	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.64	T	0.007	B	0.016	B	0.000	D	1.000	D	0.345	N	-0.74	T	-0.838	T	0.210	T	0.199	3.047	16.17	4.92	2.578	7.406	16.914	0.143	.	0.0032	0.00459265	0.0046	0.0012	0.0027	0.0002	0.0003	0.0049	0.0108	0.0099	0.0043014	665	154602	rs61739991	0.0042	0.0042	0.0039	0.0046	0.0123	0.0041	0.0041	0.0100	0.0094	0.0005	0.0032	0.0044	0.0005	0.0004	0.0123	0.0041	0.0050	0.0102	0.0032	0.0032	0.0032	0.0031	0.0116	0.0029	0.0029	0.0092	0.0083	0.0010	0	0.0030	0.0049	0.0006	0.0003	0.0136	0.0045	0.0038	0.0116	0.07	0.35349	T	0.055	0.52060	T	0.007	0.14184	B	0.016	0.17743	B	0.000404	0.44736	D	0.150290	0.999984	0.54805	D	0.695	0.17993	N	-0.74	0.73205	T	-1.74	0.41239	N	0.344	0.40565	-0.8381	0.52773	T	0.210	0.56946	T	10	0.0058303773	0.00130	T	.	.	.	0.143	0.38195	.	.	0.434057395736	0.43027	0.6033479092388576	0.60265	0.7593053508	0.64165	0.618176221848	0.55472	T	0.100807	0.40697	T	-0.41675	0.01795	T	-0.363447	0.37653	T	0.0227129971421767	0.00990	T	0.79822	0.44736	T	0.066992566	0.14466	0.09611729	0.22824	0.066992566	0.14465	0.09611729	0.22824	-1.478	0.01783	T	.	.	0.073	0.10208	B	.;.;.	.;.;.	3.079231	0.41422	21.4	0.99525916157939909	0.69530	0.98437	0.82768	D	AEFDBCIJ	0.799496	0.72574	D	-0.276975217780625	0.30041	1.67133	-0.0949209573397272	0.35600	2.061546	0.999999999999923	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	4.92	4.92	0.64147	4.702000	0.61504	4.757000	0.44693	0.596000	0.33519	0.998000	0.41325	1.000000	0.68203	0.391000	0.26581	0.0:1.0:0.0:0.0	16.914	0.86014	911	0.21964	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.07143	4957.68	85	chr7	74338861	.	C	T	4957.68	.	AC=3;AF=0.071;AN=42;BaseQRankSum=0.163;DP=1599;ExcessHet=0.3300;FS=0.517;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=12.33;ReadPosRankSum=0.389;SOR=0.652	GT:AD:DP:GQ:PL	0/1:81,85:166:99:2127,0,2115	18	0	3	0
chr7	93102965	93102965	C	G	exonic	SAMD9	.	nonsynonymous SNV	SAMD9:NM_001193307:exon2:c.G3133C:p.G1045R	MIRAGE syndrome, Autosomal dominant;Tumoral calcinosis, familial, normophosphatemic, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.13	T	0.013	B	0.007	B	0.039	N	0.999	N	1.1	L	2.77	T	-1.040	T	0.033	T	0.114	0.260	5.406	-0.384	-0.014	1.650	6.198	0.038	0.00358717597943	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	2.121e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.086	0.32610	T	0.086	0.40909	T	0.013	0.16609	B	0.007	0.12992	B	0.038933	0.24228	N	0.350345	0.998976	0.21747	N	2.2	0.62015	M	1.96	0.22270	T	-0.4	0.15782	N	0.133	0.12913	-1.0400	0.17313	T	0.033	0.13986	T	10	0.07416803	0.11303	T	0.003587	0.08216	T	0.038	0.09825	0.132	0.03662	0.251639045875	0.24756	0.3058776317445259	0.30500	0.186022872039	0.20906	0.28491345048	0.08187	T	0.005275	0.11722	T	-0.261545	0.12721	T	-0.613468	0.11704	T	0.236644327640533	0.22264	T	0.470853	0.13943	T	0.04599401	0.07624	0.049176365	0.07460	0.04599401	0.07624	0.049176365	0.07460	-5.327	0.40209	T	0.14989570008231407	0.17564	0.173	0.38025	B	.;.;.	.;.;.	2.737985	0.35852	20.1	0.81866065481440609	0.13900	0.88541	0.48516	D	AEFBI	0.296760	0.40652	N	-1.00286225320604	0.08544	0.4010124	-0.91137622340653	0.11826	0.6048167	0.111460904489544	0.16659	0.706298	0.61202	0	0.709663	0.81188	0	0.573888	0.23631	0	0.655142	0.61905	0	.	.	4.79	-0.384	0.11853	2.801000	0.47603	1.030000	0.23473	-1.635000	0.00848	0.985000	0.35982	0.000000	0.08366	0.009000	0.08673	0.0:0.5765:0.1236:0.2999	6.198	0.19775	806	0.43582	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.4524	3255.88	153	chr7	93102965	.	C	G	3255.88	.	AC=19;AF=0.452;AN=42;BaseQRankSum=-5.671e+00;DP=4087;ExcessHet=36.0830;FS=132.372;InbreedingCoeff=-0.8389;MLEAC=19;MLEAF=0.452;MQ=60.00;MQRankSum=0.00;QD=0.90;ReadPosRankSum=0.452;SOR=13.128	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:166,27:194:32:.:.:32,0,6120	2	0	19	0
chr7	95274096	95274096	G	A	exonic	PPP1R9A	.	nonsynonymous SNV	PPP1R9A:NM_001166161:exon14:c.G3104A:p.R1035Q	.	.	429	1088	5	0	0	5	0.00229253	.	.	2208754	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.1	T	0.993	D	0.683	P	.	.	1.000	N	1.04	L	1.87	T	-1.078	T	0.073	T	0.118	4.373	23.1	3.71	1.536	2.111	12.204	0.031	0.0120852813618	0.0003	0.000199681	0.0001	0.0004	0	0.0003	0	9.609e-05	0	9.946e-05	8.41e-05	13	154602	rs370590319	7.417e-05	7.73e-05	7.51e-05	7.323e-05	0.0002	6.254e-05	5.83e-05	5.906e-05	5.333e-05	0.0002	4.686e-05	0	2.56e-05	0.0001	0.0002	7.084e-05	0.0001	0.0001	0.0001	0.0001	0.0002	0.0001	0.0004	9.735e-05	8.25e-05	9.536e-05	6.942e-05	0.0002	0	0.0001	0	0.0004	9.422e-05	0	0.0001	0.0005	0.0002	0.0	0.91255	D	0.063	0.51421	T	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	1.8	0.25344	T	-1.75	0.42957	N	0.342	0.38335	-1.0780	0.07741	T	0.073	0.29515	T	9	0.08422974	0.14094	T	0.012085	0.30328	T	0.031	0.07369	.	.	0.44711355012	0.44333	0.30597843571679734	0.30510	0.197282521913	0.22105	0.363617181778	0.19911	T	.	.	.	-0.407343	0.02071	T	-0.530747	0.19212	T	0.336640030145645	0.26490	T	0.938306	0.79675	D	.	.	.	.	.	.	.	.	-6.434	0.51471	T	.	.	0.079	0.16010	B	.;.;.;.	.;.;.;.	3.911742	0.57055	23.8	0.99947758910056783	0.99923	0.91652	0.53976	D	AEFBI	0.322403	0.42490	N	0.0114955654821751	0.42378	2.552197	0.10462014464701	0.44784	2.753552	0.998020112087586	0.36327	0.615465	0.37627	0	0.573888	0.26702	0	0.658983	0.55881	0	0.620846	0.47308	0	.	.	4.59	3.71	0.41733	2.416000	0.44298	3.359000	0.37844	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.986000	0.61781	0.0807:0.0:0.9193:0.0	12.204	0.53653	864	0.32732	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	910.98	33	chr7	95274096	.	G	A	910.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-7.950e-01;DP=759;ExcessHet=0.0000;FS=0.845;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.53;ReadPosRankSum=0.152;SOR=0.589	GT:AD:DP:GQ:PL	0/1:42,37:79:99:925,0,1129	20	0	1	0
chr7	99563862	99563862	G	A	splicing	ZNF655	NM_001085366:exon3:c.137-1G>A;NM_024061:exon5:c.350-1G>A;NM_001085367:exon5:c.350-1G>A;NM_001009958:exon3:c.137-1G>A	.	.	.	.	448	1046	26	2	0	30	0.0141376	0.9884	0.86	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.000	D	.	.	.	.	.	.	.	.	.	3.512	17.94	4.14	2.624	4.327	12.234	.	.	0.0039	0.00279553	0.0036	0.0013	0.0015	0.0002	0.0014	0.0038	0.0033	0.0083	0.0034411	532	154602	rs62619783	0.0051	0.0051	0.0049	0.0052	0.0087	0.0050	0.0049	0.0082	0.0080	0.0009	0.0022	0.0033	2.527e-05	0.0016	0.0056	0.0054	0.0052	0.0087	0.0031	0.0031	0.0031	0.0031	0.0075	0.0029	0.0028	0.0056	0.0049	0.0010	0	0.0028	0.0046	0	0.0008	0	0.0048	0.0024	0.0075	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.420496	0.01697	T	-0.371803	0.36677	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.;.	.;.;.;.	4.931358	0.81311	27.5	0.99363849922481218	0.61113	0.85770	0.44940	D	AEFDGBCIJ	.	.	.	0.295992870996268	0.55944	3.758654	0.343683091521134	0.58128	3.981628	0.999999999999945	0.74766	0.359288	0.05646	0	0.340432	0.05866	0	0.144798	0.03916	0	0.117559	0.03655	0	0.972662	0.75027	4.14	4.14	0.47821	3.805000	0.55280	10.632000	0.83505	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:1.0:0.0	12.234	0.53819	281	0.88893	.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	686.98	33	chr7	99563862	.	G	A	686.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.221;DP=759;ExcessHet=0.0000;FS=2.968;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.49;ReadPosRankSum=0.509;SOR=0.310	GT:AD:DP:GQ:PL	0/1:31,24:55:99:701,0,991	20	0	1	0
chr7	100107515	100107515	-	GGCGGTGGA	exonic	TAF6	.	nonframeshift insertion	TAF6:NM_001190415:exon15:c.1875_1876insTCCACCGCC:p.A625_T626insSTA	Alazami-Yuan syndrome, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1711.94	33	chr7	100107515	.	T	TGGCGGTGGA	1711.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-9.710e-01;DP=855;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=17.29;ReadPosRankSum=1.23;SOR=0.706	GT:AD:DP:GQ:PL	0/1:54,45:99:99:1726,0,2053	20	0	1	0
chr7	100175805	100175805	G	C	exonic	GPC2	.	nonsynonymous SNV	GPC2:NM_152742:exon3:c.C415G:p.L139V,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.23	T	0.002	B	0.003	B	0.012	N	1.000	N	-0.69	N	0.82	T	-1.039	T	0.045	T	0.096	1.174	9.778	2.18	0.152	0.340	7.051	0.015	0.0084618148058	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	5.746e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.215	0.19293	T	0.264	0.22761	T	0.002	0.09854	B	0.003	0.08700	B	0.011788	0.29400	N	0.319847	0.999984	0.18198	N	1.1	0.28011	L	0.82	0.48142	T	0.09	0.05917	N	0.115	0.10340	-1.0389	0.17648	T	0.045	0.19194	T	10	0.06973243	0.10047	T	0.008462	0.22382	T	0.015	0.02232	0.409	0.44395	0.260249123532	0.25628	0.12418845572528417	0.12344	0.308157786748	0.33120	0.309577137232	0.11843	T	0.086908	0.37827	T	-0.283254	0.10325	T	-0.644651	0.09334	T	0.086081848684672	0.10746	T	0.442656	0.12286	T	0.043123998	0.06666	0.05641909	0.10077	0.043123998	0.06665	0.05641909	0.10077	-4.159	0.26155	T	.	.	0.065	0.01960	B	.	.	1.692672	0.21567	15.25	0.93331368040686369	0.23058	0.23428	0.22073	N	AEFBI	0.121001	0.23544	N	-0.863199556233683	0.11727	0.5675084	-0.716315475991125	0.16555	0.876308	0.999171803000595	0.38651	0.52065	0.21626	1	0.588066	0.40923	0	0.719019	0.79029	0	0.604944	0.38103	0	.	.	5.06	2.18	0.26813	0.676000	0.24927	3.139000	0.36475	-0.186000	0.09761	0.000000	0.06391	1.000000	0.68203	0.968000	0.53726	0.0949:0.3504:0.5547:0.0	7.051	0.24254	285	0.88719	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.5	15996.74	114	chr7	100175805	.	G	C	15996.74	.	AC=21;AF=0.500;AN=42;BaseQRankSum=-1.177e+00;DP=2291;ExcessHet=54.0936;FS=322.385;InbreedingCoeff=-1.0000;MLEAC=21;MLEAF=0.500;MQ=60.00;MQRankSum=0.00;QD=7.42;ReadPosRankSum=0.978;SOR=13.359	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:73,46:119:99:0|1:100175805_G_C:1056,0,2577:100175805	0	0	21	0
chr7	100419158	100419158	T	C	exonic	ZCWPW1	.	nonsynonymous SNV	ZCWPW1:NM_001258008:exon5:c.A314G:p.E105G	.	.	437	1034	49	2	0	53	0.0249882	.	.	2840634	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	.	.	1.0	D	0.998	D	0.000	D	1.000	D	1.7	L	-0.04	T	-0.759	T	0.190	T	0.673	4.300	22.5	5.59	2.257	3.873	12.446	0.186	.	0.0037	0.00519169	0.0060	0.0004	0.0081	0.0001	0.0009	0.0060	0.0089	0.0133	0.0056015	866	154602	rs141450215	0.0047	0.0047	0.0042	0.0052	0.0340	0.0046	0.0045	0.0301	0.0286	0.0006	0.0067	0.0242	0.0001	0.0008	0.0340	0.0037	0.0066	0.0128	0.0041	0.0042	0.0042	0.0041	0.0157	0.0039	0.0038	0.0129	0.0118	0.0006	0.0055	0.0061	0.0196	0	0.0010	0.0306	0.0048	0.0085	0.0157	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.996	0.84481	D	0.000189	0.48115	D	0.000000	1	0.81001	D	2.14	0.59869	M	-0.04	0.63403	T	-2.58	0.55662	D	0.656	0.66615	-0.7591	0.57455	T	0.190	0.54183	T	9	0.007864803	0.00179	T	.	.	.	0.186	0.46104	.	.	0.250579442822	0.24687	0.24123072230755827	0.24037	0.699819188154	0.61061	0.477081626654	0.35655	T	0.026106	0.19387	T	-0.217994	0.18268	T	-0.074878	0.65276	T	0.0250965068058876	0.01285	T	0.768523	0.39806	T	0.43225837	0.62900	0.48678872	0.70298	0.43225837	0.62900	0.48678872	0.70299	-9.733	0.73473	D	.	.	0.418	0.66060	A	.;.	.;.	5.010167	0.83197	28.0	0.99919301830838392	0.98654	0.73008	0.35719	D	ALL	0.709088	0.66329	D	0.317644890854957	0.57054	3.871421	0.397648003033706	0.61420	4.341826	0.999998930392949	0.74766	0.533608	0.22052	0	0.68618	0.66647	0	0.685742	0.62368	0	0.620976	0.48614	0	.	.	5.59	5.59	0.84677	3.787000	0.55144	7.906000	0.73790	0.661000	0.55757	1.000000	0.71638	1.000000	0.68203	0.986000	0.61781	0.0:0.0:0.0:1.0	12.446	0.54989	453	0.79178	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1289.98	36	chr7	100419158	.	T	C	1289.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.210e-01;DP=817;ExcessHet=0.0000;FS=0.682;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.12;ReadPosRankSum=0.958;SOR=0.624	GT:AD:DP:GQ:PL	0/1:57,59:116:99:1304,0,1281	20	0	1	0
chr7	100773851	100773851	A	0	exonic	ZAN	.	.	.	.	.	428	140	242	44	668	998	0.540984	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7857	11054.86	98	chr7	100773851	.	A	G,*	11054.86	.	AC=6,31;AF=0.143,0.738;AN=42;DP=2409;ExcessHet=1.1607;FS=0.796;InbreedingCoeff=-0.1351;MLEAC=6,31;MLEAF=0.143,0.738;MQ=60.00;QD=4.79;SOR=0.612	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:65,0,51:116:99:0|1:100773849_CCAT_C:1946,2142,4871,0,2729,2576:100773849	0	1	0	0
chr7	100773854	100773854	G	0	exonic	ZAN	.	.	.	.	.	428	134	463	356	141	1316	0.814276	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7857	68137.53	98	chr7	100773854	.	G	GTT,*	68137.53	.	AC=31,6;AF=0.738,0.143;AN=42;BaseQRankSum=0.460;DP=2329;ExcessHet=1.1607;FS=0.793;InbreedingCoeff=-0.1351;MLEAC=31,6;MLEAF=0.738,0.143;MQ=60.00;MQRankSum=0.00;QD=29.50;ReadPosRankSum=0.812;SOR=0.625	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:65,52,0:117:99:0|1:100773849_CCAT_C:1977,0,2573,2173,2729,4902:100773849	0	11	5	0
chr7	100952945	100952945	C	0	exonic	MUC3A	.	.	.	.	.	418	423	166	0	515	681	0.164032	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	358.48	781	chr7	100952945	.	C	*,A	358.48	.	AC=19,2;AF=0.452,0.048;AN=42;BaseQRankSum=1.12;DP=13562;ExcessHet=54.0936;FS=0.000;InbreedingCoeff=-1.0000;MLEAC=19,2;MLEAF=0.452,0.048;MQ=58.45;MQRankSum=-8.589e+00;QD=0.03;ReadPosRankSum=1.76;SOR=0.659	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:434,144,0:578:99:0|1:100952930_T_C:4740,0,17790,6047,18224,24270:100952930	0	0	19	0
chr7	100953156	100953156	C	0	exonic	MUC3A	.	.	.	.	.	685	537	148	21	131	321	0.150316	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	25169.59	570	chr7	100953156	.	C	T,*	25169.59	.	AC=6,16;AF=0.143,0.381;AN=42;BaseQRankSum=6.06;DP=11437;ExcessHet=43.6797;FS=8.756;InbreedingCoeff=-0.9091;MLEAC=6,16;MLEAF=0.143,0.381;MQ=57.66;MQRankSum=-1.630e+01;QD=2.22;ReadPosRankSum=-4.630e-01;SOR=1.261	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:410,59,129:598:99:0|1:100953098_G_C:4183,2939,19978,0,14738,16828:100953098	0	0	5	0
chr7	100953158	100953158	G	0	exonic	MUC3A	.	.	.	.	.	651	699	39	0	133	172	0.0271399	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4762	1141.98	562	chr7	100953158	.	G	*,T	1141.98	.	AC=18,2;AF=0.429,0.048;AN=42;BaseQRankSum=5.93;DP=11248;ExcessHet=43.6797;FS=14.318;InbreedingCoeff=-0.9091;MLEAC=18,2;MLEAF=0.429,0.048;MQ=57.68;MQRankSum=-1.628e+01;QD=0.11;ReadPosRankSum=-5.200e-01;SOR=1.607	GT:AD:DP:GQ:PL	0/1:409,120,54:586:99:3808,0,16813,2771,14906,19783	1	0	18	0
chr7	100953313	100953313	C	A	exonic	MUC3A	.	nonsynonymous SNV	MUC3A:NM_005960:exon2:c.C1534A:p.P512T,	.	.	832	688	2	0	0	2	0.00145138	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs967061375	0.0005	0.0005	0.0004	0.0006	0.0045	0.0004	0.0004	0.0038	0.0035	0	0	0.0025	0	0	0.0006	9.908e-05	0.0004	0.0045	0.0002	0.0011	0.0002	0.0003	0.0036	0.0002	0.0001	0.0023	0.0019	2.486e-05	0	6.76e-05	0.0026	0	0	0	5.983e-05	0	0.0036	.	.	.	1.0	0.01155	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	0.00142	.	.	.	.	.	.	.	0.019521058	0.00437	T	.	.	.	.	.	.	.	.	.	0.026023660895657615	0.02553	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.331367	0.06940	T	.	.	.	.	.	.	.	.	-5.784	0.44435	T	.	.	0.116	0.23395	B	.;.	.;.	-0.922023	0.00890	0.032	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.168000	0.09914	-9.533000	0.00808	-1.281000	0.01268	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	809	0.43032	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	4758.98	451	chr7	100953313	.	C	A	4758.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.908;DP=10605;ExcessHet=0.0000;FS=5.238;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=57.72;MQRankSum=7.22;QD=8.44;ReadPosRankSum=0.062;SOR=0.866	GT:AD:DP:GQ:PL	0/1:366,198:564:99:4773,0,12052	20	0	1	0
chr7	100953371	100953371	C	0	exonic	MUC3A	.	.	.	.	.	991	251	197	25	58	305	0.329773	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	122869.23	574	chr7	100953371	.	C	A,*	122869.23	.	AC=20,2;AF=0.476,0.048;AN=42;BaseQRankSum=-2.807e+00;DP=13314;ExcessHet=43.6797;FS=5.958;InbreedingCoeff=-0.9091;MLEAC=20,2;MLEAF=0.476,0.048;MQ=57.56;MQRankSum=-1.348e+01;QD=10.82;ReadPosRankSum=0.229;SOR=1.110	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:350,212,0:646:99:.:.:7828,0,13919,8899,14597,23631	0	0	19	0
chr7	100953494	100953494	C	0	exonic	MUC3A	.	.	.	.	.	798	546	139	16	23	194	0.135392	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	16936.68	834	chr7	100953494	.	C	A,*	16936.68	.	AC=10,4;AF=0.238,0.095;AN=42;BaseQRankSum=-9.240e-01;DP=18602;ExcessHet=14.4320;FS=0.762;InbreedingCoeff=-0.5000;MLEAC=10,4;MLEAF=0.238,0.095;MQ=57.31;MQRankSum=-8.273e+00;QD=1.27;ReadPosRankSum=-1.446e+00;SOR=0.794	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:640,58,0:698:99:0|1:100953471_A_C:509,0,26537,2435,26712,29147:100953471	7	0	10	0
chr7	100954094	100954094	A	G	exonic	MUC3A	.	nonsynonymous SNV	MUC3A:NM_005960:exon2:c.A2315G:p.H772R,	.	.	808	657	57	0	0	57	0.0415755	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs933695519	0.0094	0.0084	0.0088	0.0099	0.0595	0.0091	0.0090	0.0528	0.0502	0.0016	0.0072	0.0349	3.479e-05	0.0009	0.0595	0.0082	0.0130	0.0215	0.0083	0.0088	0.0080	0.0086	0.0316	0.0079	0.0078	0.0275	0.0259	0.0016	0.0787	0.0127	0.0336	0.0004	0.0009	0.0479	0.0089	0.0152	0.0316	.	.	.	0.213	0.27056	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.064	0.03613	.	.	.	.	.	.	.	0.0039747953	0.00077	T	.	.	.	.	.	.	.	.	.	0.02810929783616011	0.02760	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.304669	0.05813	T	.	.	.	.	.	.	.	.	-6.03	0.46530	T	.	.	0.163	0.35931	B	.;.	.;.	0.036165	0.04538	1.230	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-1.370000	0.02682	-8.607000	0.00942	-0.344000	0.05652	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	809	0.43032	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.04762	5719.11	352	chr7	100954094	.	A	G	5719.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-5.221e+00;DP=7394;ExcessHet=0.1072;FS=5.124;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=55.74;MQRankSum=8.36;QD=8.16;ReadPosRankSum=0.749;SOR=0.750	GT:AD:DP:GQ:PL	0/1:240,128:368:99:2594,0,7339	19	0	2	0
chr7	100955012	100955012	G	A	exonic	MUC3A	.	nonsynonymous SNV	MUC3A:NM_005960:exon2:c.G3233A:p.R1078K,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.317e-06	0.0001	4.898e-06	0	.	0	0	.	.	0	0	0	0	0	0	0	3.939e-05	0	8.995e-06	0.0019	0	1.83e-05	0.0003	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0003	.	.	.	0.126	0.35710	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.045	0.01740	.	.	.	.	.	.	.	0.07244828	0.10815	T	.	.	.	.	.	.	.	.	.	0.042076156409536575	0.04152	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.251175	0.03802	T	.	.	.	.	.	.	.	.	-6.363	0.49220	T	.	.	0.154	0.34049	B	.;.	.;.	0.226431	0.06082	2.525	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-1.247000	0.03004	-9.307000	0.00838	-0.269000	0.06763	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	809	0.43032	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.3571	24713.07	719	chr7	100955012	.	G	C,A	24713.07	.	AC=14,1;AF=0.333,0.024;AN=42;BaseQRankSum=-1.062e+00;DP=13307;ExcessHet=17.4423;FS=13.525;InbreedingCoeff=-0.5721;MLEAC=14,1;MLEAF=0.333,0.024;MQ=56.37;MQRankSum=-1.052e+01;QD=2.42;ReadPosRankSum=0.662;SOR=2.174	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:545,129,21:695:99:.:.:4075,0,22440,4422,22255,27161	6	0	14	0
chr7	100955586	100955586	T	0	exonic	MUC3A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.425	47603.67	377	chr7	100955586	.	T	A,*	47603.67	.	AC=14,3;AF=0.350,0.075;AN=40;BaseQRankSum=-3.380e+00;DP=9878;ExcessHet=25.1139;FS=6.754;InbreedingCoeff=-0.7143;MLEAC=14,3;MLEAF=0.350,0.075;MQ=57.66;MQRankSum=-1.812e+01;QD=5.71;ReadPosRankSum=-7.510e-01;SOR=1.281	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:387,175,0:562:99:0|1:100955563_T_G:6183,0,15723,7348,16250,23598:100955563	3	0	14	1
chr7	100955587	100955587	G	0	exonic	MUC3A	.	.	.	.	.	948	292	244	32	6	314	0.345291	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.425	46737.11	377	chr7	100955587	.	G	C,*	46737.11	.	AC=14,3;AF=0.350,0.075;AN=40;BaseQRankSum=0.104;DP=9885;ExcessHet=25.1139;FS=6.502;InbreedingCoeff=-0.7143;MLEAC=14,3;MLEAF=0.350,0.075;MQ=57.65;MQRankSum=-1.817e+01;QD=5.55;ReadPosRankSum=-6.860e-01;SOR=1.281	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:387,175,0:562:99:0|1:100955563_T_G:6183,0,15723,7348,16250,23598:100955563	3	0	14	1
chr7	100955917	100955917	G	0	exonic	MUC3A	.	.	.	.	.	766	657	81	4	14	103	0.0634355	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3611	30532.88	499	chr7	100955917	.	G	C,*	30532.88	.	AC=10,3;AF=0.278,0.083;AN=36;BaseQRankSum=-1.985e+00;DP=19448;ExcessHet=11.8493;FS=4.100;InbreedingCoeff=-0.5273;MLEAC=11,3;MLEAF=0.306,0.083;MQ=56.33;MQRankSum=-1.229e+01;QD=2.43;ReadPosRankSum=2.52;SOR=1.144	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:896,0,126:1022:99:0|1:100955908_C_T:2594,5291,42914,0,37623,37244:100955908	5	0	10	3
chr7	100955959	100955959	A	G	exonic	MUC3A	.	nonsynonymous SNV	MUC3A:NM_005960:exon2:c.A4180G:p.T1394A,	.	.	768	680	56	1	17	75	0.0409027	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1175400681	7.904e-05	0.0004	3.921e-05	0.0001	0.0008	5.602e-05	4.861e-05	0.0005	0.0004	0	5.076e-05	0.0003	0	0	0	2.158e-05	0.0001	0.0008	0.0006	0.0032	0.0006	0.0006	0.0031	0.0005	0.0005	0.0019	0.0015	0.0002	0.0025	0.0014	0.0009	0	9.978e-05	0.0040	0.0006	0.0020	0.0031	.	.	.	0.216	0.26306	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.059	0.03069	.	.	.	.	.	.	.	0.11744994	0.22181	T	.	.	.	.	.	.	.	.	.	0.03036875277365848	0.02985	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.260974	0.04439	T	.	.	.	.	.	.	.	.	-7.243	0.55789	T	.	.	0.110	0.21125	B	.;.	.;.	0.622094	0.09905	6.665	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.465000	0.21715	-2.074000	0.04252	0.688000	0.82842	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	.	.	.	809	0.43032	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.4048	23255.17	557	chr7	100955959	.	ACC	A,GCC	23255.17	.	AC=15,2;AF=0.357,0.048;AN=42;BaseQRankSum=3.10;DP=16785;ExcessHet=25.1139;FS=4.174;InbreedingCoeff=-0.6800;MLEAC=15,2;MLEAF=0.357,0.048;MQ=57.02;MQRankSum=-1.169e+01;QD=1.66;ReadPosRankSum=-1.368e+00;SOR=1.212	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:622,76,111:809:99:.:.:1157,135,27631,0,21385,23904	4	0	15	0
chr7	100958135	100958135	T	0	exonic	MUC3A	.	.	.	.	.	80	0	58	87	1	233	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6667	24112.57	1331	chr7	100958135	.	T	C,*	24112.57	.	AC=11,1;AF=0.611,0.056;AN=18;BaseQRankSum=-1.492e+00;DP=16684;ExcessHet=5.3821;FS=1.190;InbreedingCoeff=0.0278;MLEAC=20,2;MLEAF=1.00,0.111;MQ=59.22;MQRankSum=-1.577e+00;QD=17.65;ReadPosRankSum=1.06;SOR=0.658	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:72,94,0:166:99:.:.:2280,0,1639,2494,1920,4414	0	3	5	12
chr7	100959239	100959239	C	G	exonic	MUC3A	.	nonsynonymous SNV	MUC3A:NM_005960:exon2:c.C7460G:p.T2487R,	.	.	402	1105	15	0	0	15	0.00674157	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.15	T	.	.	.	.	.	.	0.729	N	0	N	2.86	T	-0.964	T	0.013	T	0.09	1.026	9.192	-3.46	-0.933	0.115	4.397	0.072	.	.	0.000399361	0.0009	0	8.82e-05	0.0012	0	0.0002	0	0.0052	0.0006727	104	154602	rs199829729	0.0005	0.0005	0.0004	0.0006	0.0046	0.0005	0.0005	0.0042	0.0041	5.975e-05	0	0.0021	0.0010	0	0.0005	0.0002	0.0005	0.0046	0.0003	0.0003	0.0002	0.0003	0.0029	0.0002	0.0002	0.0018	0.0014	4.807e-05	0	6.53e-05	0.0026	0.0002	0	0	0.0002	0	0.0029	.	.	.	0.008	0.69154	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.089	0.06720	-0.9635	0.38507	T	0.013	0.04938	T	6	0.0033223033	0.00057	T	.	.	.	.	.	.	.	0.0666544352282	0.05500	0.04254950817714387	0.04199	.	.	.	.	.	.	.	.	-0.292981	0.09339	T	-0.658623	0.08360	T	0.0125464564189315	0.00208	T	0.354465	0.09893	T	0.06280327	0.13156	0.06946024	0.14638	0.06280327	0.13155	0.06946024	0.14637	-7.582	0.58185	D	.	.	0.194	0.41387	B	.;.	.;.	0.900237	0.12741	9.261	0.86711192404425053	0.16721	0.02290	0.06594	N	AEFGI	0.068670	0.13557	N	-1.03686950376846	0.07848	0.3659505	-1.23464434807009	0.05363	0.255304	0.999978822832524	0.50053	0.69289	0.55638	0	0.019298	0.00044	3	0.517114	0.09559	2	0.683672	0.66515	0	.	.	1.97	-3.46	0.04465	-1.064000	0.03572	-0.543000	0.08571	0.291000	0.18778	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.0:0.397:0.3407:0.2623	4.397	0.10799	808	0.43318	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	3815.98	527	chr7	100959239	.	C	G	3815.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.70;DP=9710;ExcessHet=0.0000;FS=2.721;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.93;MQRankSum=2.08;QD=6.80;ReadPosRankSum=-5.670e-01;SOR=0.675	GT:AD:DP:GQ:PL	0/1:394,167:561:99:3830,0,13703	20	0	1	0
chr7	100960582	100960582	T	0	exonic	MUC3A	.	.	.	.	.	0	9	197	0	20	217	0.916279	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	87422.78	564	chr7	100960582	.	T	A,*	87422.78	.	AC=15,6;AF=0.357,0.143;AN=42;BaseQRankSum=0.858;DP=12953;ExcessHet=54.0936;FS=0.000;InbreedingCoeff=-1.0000;MLEAC=15,6;MLEAF=0.357,0.143;MQ=60.00;MQRankSum=0.00;QD=6.90;ReadPosRankSum=0.163;SOR=0.653	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:362,290,0:652:99:.:.:10958,0,14255,10598,15132,25165	0	0	15	0
chr7	101002843	101002843	C	T	exonic	MUC12	.	nonsynonymous SNV	MUC12:NM_001164462:exon2:c.C12280T:p.P4094S,	.	.	653	864	2	3	0	8	0.00460829	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.96	T	.	.	.	.	.	.	1.000	N	0	N	2.5	T	-0.950	T	0.012	T	0.106	-0.715	0.925	-1.23	-0.521	-1.249	3.798	0.005	0.00373543314567	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.13e-06	3.377e-06	4.209e-06	0	0.0005	3.5e-07	1.3e-07	8.623e-05	3.587e-05	0	0	0	0	0	0.0005	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.117	0.28271	T	0.93	0.02777	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	0	0.06538	N	2.5	0.14531	T	-1.07	0.27876	N	0.111	0.12341	-0.9495	0.41058	T	0.012	0.04653	T	7	0.071789205	0.10630	T	0.003735	0.08651	T	0.005	0.00259	0.121	0.02793	0.0401082797425	0.02173	0.013883061828667234	0.01345	.	.	0.343907296658	0.17021	T	0.003324	0.02728	T	-0.350173	0.04716	T	-0.740776	0.03857	T	0.0275614133307057	0.01625	T	0.210779	0.02928	T	0.024016328	0.01194	0.041439056	0.04711	0.024016328	0.01193	0.041439056	0.04711	-4.653	0.32830	T	.	.	0.119	0.27791	B	.;.	.;.	0.540067	0.09088	5.870	0.26196593007923519	0.01243	0.00195	0.01126	N	AEFI	0.034023	0.04142	N	-1.21927330450868	0.04720	0.2136671	-1.38831149324315	0.03376	0.1573354	1.69384473227754E-5	0.02871	0.553676	0.25195	0	0.588015	0.36545	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	0.9	-1.23	0.08977	0.119000	0.15456	-10.069000	0.00743	-0.648000	0.04400	0.001000	0.13787	0.000000	0.08366	0.001000	0.02609	0.0:0.4763:0.0:0.5237	3.798	0.08265	818	0.41518	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.03571	4368.36	74	chr7	101002843	.	C	T	4368.36	.	AC=1;AF=0.036;AN=28;BaseQRankSum=2.11;DP=2684;ExcessHet=0.0000;FS=2.412;InbreedingCoeff=0.2254;MLEAC=1;MLEAF=0.036;MQ=52.93;MQRankSum=8.40;QD=13.74;ReadPosRankSum=-1.729e+00;SOR=0.565	GT:AD:DP:GQ:PL	0/1:154,164:318:99:4379,0,3532	13	0	1	7
chr7	111741540	111741540	C	T	exonic	DOCK4	.	nonsynonymous SNV	DOCK4:NM_014705:exon45:c.G4892A:p.S1631N	.	.	.	.	.	.	.	.	.	0.9993	0.872	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.99	D	0.944	D	0.000	D	1.000	D	1.935	M	3.91	T	-1.203	T	0.065	T	0.14	4.712	26.2	5.24	2.713	7.037	19.008	0.156	0.00468857158762	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.007	0.59928	D	0.005	0.72224	D	0.983	0.60381	D	0.881	0.62579	P	0.000000	0.84330	D	0.118903	0.999995	0.58761	D	1.545	0.39105	L	3.91	0.03516	T	-0.66	0.19085	N	0.528	0.58458	-1.2031	0.00128	T	0.065	0.26772	T	9	0.415831	0.56534	T	0.004689	0.11660	T	0.156	0.40720	0.21	0.12781	0.428492896387	0.42465	0.741024583692677	0.74047	0.309704326194	0.33277	0.70537006855	0.67921	T	0.131628	0.46123	T	-0.201522	0.20586	T	-0.527249	0.19563	T	0.824539427125379	0.48112	D	0.926307	0.72903	D	0.36118373	0.57926	0.27499816	0.53433	0.36118373	0.57927	0.27499816	0.53432	-4.235	0.27284	T	.	.	0.287	0.59091	B	.;.	.;.	5.922675	0.94072	33	0.99611033136929361	0.74813	0.95714	0.65843	D	AEFBCI	0.895204	0.83498	D	0.733949544071564	0.81858	7.621623	0.73896048459938	0.85331	8.548392	0.999999999983772	0.74766	0.67177	0.52595	0	0.547309	0.14657	0	0.658983	0.55881	0	0.711	0.71501	0	.	.	5.24	5.24	0.72863	7.106000	0.76681	7.607000	0.61769	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:1.0:0.0:0.0	19.008	0.92839	889	0.27310	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1538.98	34	chr7	111741540	.	C	T	1538.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.129e+00;DP=789;ExcessHet=0.0000;FS=3.749;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.94;ReadPosRankSum=0.302;SOR=0.960	GT:AD:DP:GQ:PL	0/1:42,61:103:99:1553,0,1084	20	0	1	0
chr7	111989163	111989163	G	A	exonic	DOCK4	.	nonsynonymous SNV	DOCK4:NM_001363540:exon6:c.C316T:p.R106C	.	.	425	1092	5	0	0	5	0.00228415	0.0003	0.182	722255	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.02	D	0.997	D	0.676	P	0.000	D	1.000	D	1.445	L	4.04	T	-1.023	T	0.017	T	0.594	2.357	13.84	2.89	0.401	5.478	7.663	0.221	.	0.0019	.	0.0021	0.0008	0.0003	0	0.0051	0.0031	0.0011	0.0002	0.0020116	311	154602	rs202246313	0.0027	0.0027	0.0028	0.0027	0.0031	0.0027	0.0026	0.0030	0.0030	0.0004	0.0002	0.0056	5.038e-05	0.0041	0.0003	0.0031	0.0025	0.0002	0.0021	0.0021	0.0020	0.0022	0.0031	0.0019	0.0019	0.0028	0.0026	0.0007	0	0.0005	0.0060	0	0.0049	0	0.0031	0.0009	0.0004	0.016	0.51853	D	0.002	0.83351	D	0.997	0.70673	D	0.586	0.50343	P	0.000006	0.62929	D	0.143577	0.999885	0.50402	D	0.345	0.11182	N	4.04	0.03121	T	-3.17	0.64363	D	0.705	0.72746	-1.0226	0.22866	T	0.017	0.07092	T	10	0.009928405	0.00223	T	0.020851	0.43523	T	0.221	0.51721	.	.	0.509625900108	0.50601	0.7442741760080872	0.74373	0.876816499793	0.69608	0.80441904068	0.82637	D	0.288136	0.66093	T	-0.41273	0.01907	T	-0.369312	0.36970	T	0.0342424631010544	0.02679	T	0.962104	0.86445	D	0.20278636	0.42334	0.1394516	0.33271	0.20278636	0.42334	0.1394516	0.33270	-7.588	0.58227	D	.	.	0.268	0.50232	B	.;.;.	.;.;.	4.576143	0.72242	25.8	0.99633501775418665	0.76203	0.95212	0.63853	D	AEFBI	0.809311	0.73285	D	-0.139811075498024	0.35669	2.051785	-0.181743184973441	0.32207	1.830124	0.999770453735494	0.42865	0.722319	0.85440	0	0.588015	0.36545	0	0.658983	0.55881	0	0.735409	0.98432	0	.	.	5.27	2.89	0.32713	5.695000	0.67940	5.099000	0.47419	-0.124000	0.13482	1.000000	0.71638	1.000000	0.68203	0.531000	0.29730	0.0:0.0741:0.1438:0.7821	7.663	0.27584	722	0.55239	.;Dedicator of cytokinesis, N-terminal domain;Dedicator of cytokinesis, N-terminal domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1296.98	33	chr7	111989163	.	G	A	1296.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-7.490e-01;DP=831;ExcessHet=0.0000;FS=2.991;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.08;ReadPosRankSum=0.258;SOR=0.407	GT:AD:DP:GQ:PL	0/1:33,53:86:99:1311,0,740	20	0	1	0
chr7	122994805	122994805	A	G	exonic	TAS2R16	.	nonsynonymous SNV	TAS2R16:NM_016945:exon1:c.T830C:p.M277T,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	0.203	B	0.085	B	0.020	N	1.000	N	1.32	L	5.68	T	-0.920	T	0.004	T	0.525	1.088	9.441	3.41	0.899	2.120	6.773	0.106	0.00902720696492	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1051096835	5.504e-06	5.472e-06	6.843e-06	4.151e-06	0.0002	2.37e-06	1.71e-06	9.846e-05	7.012e-05	0.0002	0	0	0	0	0	0	1.668e-05	0	3.287e-05	3.284e-05	2.57e-05	4.037e-05	9.653e-05	1.261e-05	7.98e-06	3.249e-05	1.915e-05	9.653e-05	0	0	0	0	0	0	1.47e-05	0	0	0.097	0.30943	T	0.091	0.40110	T	0.203	0.29776	B	0.085	0.29395	B	0.019915	0.27154	N	0.352028	1	0.08975	N	1.59	0.40313	L	5.68	0.00759	T	-2.67	0.57110	D	0.372	0.41360	-0.9204	0.45499	T	0.004	0.01192	T	10	0.40975532	0.56142	T	0.009027	0.23774	T	0.106	0.30130	0.691	0.82843	0.194818534648	0.19098	0.20152894011811637	0.20069	0.012742868649	0.01221	0.480903625488	0.36181	T	0.03346	0.22922	T	-0.155539	0.27447	T	-0.461198	0.26469	T	0.278822660446167	0.24122	T	0.627737	0.24333	T	0.20704293	0.42898	0.31234133	0.57236	0.20704293	0.42898	0.31234133	0.57235	-4.208	0.26867	T	.	.	0.239	0.47316	B	.	.	1.219420	0.16129	12.34	0.54688403409682862	0.05188	0.27179	0.23204	N	AEFBI	0.039200	0.05659	N	-0.580662215984167	0.19533	1.023005	-0.610595778239712	0.19220	1.030281	9.70611611851142E-5	0.04910	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	4.56	3.41	0.38145	2.619000	0.46066	3.576000	0.39140	0.691000	0.84096	0.156000	0.23741	0.129000	0.22981	0.412000	0.27050	0.8937:0.0:0.1063:0.0	6.773	0.22789	715	0.56137	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1111.98	33	chr7	122994805	.	A	G	1111.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.050e+00;DP=911;ExcessHet=0.0000;FS=0.784;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.71;ReadPosRankSum=-1.351e+00;SOR=0.582	GT:AD:DP:GQ:PL	0/1:48,47:95:99:1126,0,1298	20	0	1	0
chr7	124032406	124032408	GCT	-	exonic	TMEM229A	.	nonframeshift deletion	TMEM229A:NM_001136002:exon1:c.596_598del:p.Q200del,	.	.	414	602	321	84	101	590	0.288836	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2143	8600.32	36	chr7	124032402	.	CGCTGCT	C,CGCT	8600.32	.	AC=8,1;AF=0.190,0.024;AN=42;BaseQRankSum=-6.570e-01;DP=1005;ExcessHet=0.9430;FS=4.707;InbreedingCoeff=0.0101;MLEAC=8,1;MLEAF=0.190,0.024;MQ=60.00;MQRankSum=0.00;QD=23.50;ReadPosRankSum=0.410;SOR=0.923	GT:AD:DP:GQ:PL	0/1:26,27,0:53:99:1047,0,1001,1126,1083,2209	13	1	6	0
chr7	124851918	124851918	C	A	exonic	POT1	.	nonsynonymous SNV	POT1:NM_001042594:exon10:c.G510T:p.Q170H	.	.	440	1081	1	0	0	1	0.000462321	.	.	457104	not_specified|not_provided|POT1-related_disorder|Tumor_predisposition_syndrome_3|Hereditary_cancer-predisposing_syndrome	MedGen:CN169374|MedGen:C3661900|.|MONDO:MONDO:0014368,MedGen:C4014476,OMIM:615848,Orphanet:618|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.02	D	0.973	D	0.77	P	0.118	N	1.000	N	2.125	M	0.82	T	-0.883	T	0.143	T	0.398	3.367	17.35	-0.749	-0.371	-0.153	9.597	0.136	0.0144066373101	0.0029	0.00159744	0.0026	0.0011	0.0013	0.0001	0.0041	0.0036	0.0023	0.0015	0.0027296	422	154602	rs116916706	0.0050	0.0050	0.0051	0.0049	0.0059	0.0049	0.0049	0.0057	0.0057	0.0009	0.0012	7.665e-05	0	0.0037	0.0002	0.0059	0.0054	0.0021	0.0030	0.0030	0.0032	0.0028	0.0047	0.0028	0.0027	0.0043	0.0041	0.0014	0	0.0014	0	0.0004	0.0035	0	0.0047	0.0038	0.0014	0.143	0.25355	T	0.057	0.46406	T	0.973	0.57599	D	0.77	0.56828	P	0.117501	0.19151	N	0.560758	0.999997	0.08975	N	2.65	0.77586	M	0.82	0.48142	T	-1.39	0.43149	N	0.229	0.33250	-0.8829	0.49529	T	0.143	0.46532	T	10	0.0039791167	0.00077	T	0.014407	0.34508	T	0.136	0.36778	0.252	0.19067	0.595301672115	0.59208	0.5165991918110379	0.51582	0.237661895385	0.26305	0.326851516962	0.14459	T	0.21509	0.57686	T	-0.460536	0.00976	T	-0.431276	0.29791	T	0.0174436964394395	0.00481	T	0.606339	0.22814	T	0.03864433	0.05189	0.040631518	0.04436	0.041615646	0.06161	0.048539113	0.07229	-4.019	0.24087	T	0.1863759991736207	0.24255	0.126	0.26700	B	.;.	.;.	1.062284	0.14442	11.01	0.98493922337933948	0.42132	0.11385	0.16599	N	AEFBI	0.074043	0.14829	N	-0.578567553959384	0.19596	1.026869	-0.783961302408964	0.14888	0.7802644	6.56076162446506E-5	0.04366	0.706298	0.61202	0	0.709663	0.81188	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	5.44	-0.749	0.10525	-0.073000	0.11428	-1.233000	0.05954	-0.930000	0.02149	0.009000	0.18154	0.000000	0.08366	0.725000	0.34934	0.0:0.563:0.0:0.437	9.597	0.38745	749	0.51929	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	796.98	34	chr7	124851918	.	C	A	796.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.010;DP=737;ExcessHet=0.0000;FS=0.998;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.28;ReadPosRankSum=-6.270e-01;SOR=0.941	GT:AD:DP:GQ:PL	0/1:26,34:60:99:811,0,570	20	0	1	0
chr7	128313243	128313243	G	A	exonic	RBM28	.	nonsynonymous SNV	RBM28:NM_001166135:exon14:c.C1654T:p.H552Y	.	.	0	1514	8	0	0	8	0.00263505	.	.	699808	RBM28-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	1	T	0.476	P	0.124	B	0.002	N	0.768	N	0	N	3.0	T	-1.056	T	0.016	T	0.102	1.453	10.80	4.88	1.412	3.165	14.527	0.074	0.00792322447304	0.0026	0.00139776	0.0022	0.0007	0.0031	0	0.0011	0.0028	0.0011	0.0021	0.0022703	351	154602	rs142674151	0.0031	0.0031	0.0032	0.0030	0.0036	0.0030	0.0030	0.0035	0.0035	0.0004	0.0019	0.0002	0	0.0007	0.0033	0.0036	0.0030	0.0019	0.0020	0.0020	0.0023	0.0018	0.0036	0.0019	0.0018	0.0032	0.0031	0.0006	0	0.0015	0	0	0.0002	0	0.0036	0.0019	0.0021	0.122	0.27663	T	1.0	0.01155	T	0.476	0.36665	P	0.038	0.23361	B	0.002199	0.37053	N	0.299750	0.84605	0.29468	N	0	0.06538	N	3.0	0.20255	T	-1.27	0.31981	N	0.299	0.33796	-1.0557	0.12855	T	0.016	0.06616	T	10	0.0071209073	0.00162	T	0.007923	0.21007	T	0.074	0.21613	.	.	0.241078983079	0.23725	0.07740264684239957	0.07676	0.184162317437	0.20708	0.322032153606	0.13730	T	0.004226	0.03630	T	-0.591127	0.00165	T	-0.62176	0.11047	T	0.0115796514822642	0.00176	T	0.79482	0.43725	T	0.059065334	0.11959	0.0893747	0.20897	0.07477026	0.16800	0.09586344	0.22752	-5.018	0.39963	T	.	.	0.073	0.04517	B	.;.	.;.	2.288981	0.29275	18.07	0.97949553309838999	0.37093	0.93654	0.58812	D	AEFBI	0.331964	0.43152	N	-0.432166213687329	0.24349	1.314099	-0.264486356226474	0.29277	1.638973	0.991326043116512	0.32449	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.78	4.88	0.63131	2.545000	0.45429	5.816000	0.50045	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.610000	0.31640	0.0:0.1475:0.8524:0.0	14.527	0.67483	645	0.63593	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1628.98	34	chr7	128313243	.	G	A	1628.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.49;DP=851;ExcessHet=0.0000;FS=5.370;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.07;ReadPosRankSum=0.454;SOR=1.146	GT:AD:DP:GQ:PL	0/1:75,60:135:99:1643,0,1926	20	0	1	0
chr7	138584866	138584866	A	G	exonic	TRIM24	.	nonsynonymous SNV	TRIM24:NM_003852:exon19:c.A2966G:p.K989R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.38	T	0.143	B	0.062	B	0.003	N	1.000	N	1.245	L	-1.0	T	-0.929	T	0.243	T	0.079	1.151	9.686	1.07	0.346	1.940	5.660	0.058	0.0168538382373	0.0006	0.000599042	0.0002	0.0017	8.642e-05	0	0	1.504e-05	0	0	0.0001488	23	154602	rs145746225	5.953e-05	5.951e-05	6.127e-05	5.777e-05	0.0021	4.883e-05	4.562e-05	0.0017	0.0016	0.0021	0.0001	0	0	0	0.0003	4.497e-06	6.625e-05	1.16e-05	0.0005	0.0005	0.0005	0.0005	0.0016	0.0004	0.0004	0.0013	0.0012	0.0016	0	0.0005	0	0	0	0.0034	0	0	0	0.044	0.41096	D	0.37	0.17857	T	0.009	0.27649	B	0.01	0.26930	B	0.002559	0.36353	N	0.298590	1	0.08975	N	1.39	0.34934	L	-1.01	0.76168	T	-0.77	0.21429	N	0.052	0.09349	-0.9294	0.44227	T	0.243	0.61154	T	10	0.0082656145	0.00187	T	0.016854	0.38297	T	0.058	0.16647	.	.	0.311889312631	0.30795	0.14512572995778103	0.14435	0.499576287038	0.48390	0.380427718163	0.22317	T	0.137272	0.47012	T	-0.458261	0.01008	T	-0.436584	0.29190	T	0.00815538675516813	0.00097	T	0.605339	0.22755	T	0.03665106	0.04550	0.038885795	0.03856	0.03665106	0.04550	0.038885795	0.03856	-3.075	0.11011	T	.	.	0.075	0.06479	B	.;.	.;.	2.551977	0.33031	19.22	0.97867188184723253	0.36506	0.86550	0.45853	D	AEDBI	0.181728	0.30905	N	-0.581046695761264	0.19521	1.022303	-0.472581952715112	0.22912	1.246871	0.476757403338142	0.20752	0.732398	0.92422	0	0.743671	0.97443	0	0.702456	0.68683	0	0.727631	0.95156	0	.	.	5.3	1.07	0.19399	1.945000	0.39900	3.543000	0.39013	-0.054000	0.16847	0.998000	0.41325	1.000000	0.68203	0.929000	0.46594	0.7054:0.0:0.1582:0.1363	5.660	0.16938	900	0.24599	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1129.98	35	chr7	138584866	.	A	G	1129.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.170e+00;DP=778;ExcessHet=0.0000;FS=0.764;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.65;ReadPosRankSum=-4.700e-01;SOR=0.563	GT:AD:DP:GQ:PL	0/1:45,52:97:99:1144,0,1011	20	0	1	0
chr7	141973323	141973323	G	A	exonic	TAS2R38	.	nonsynonymous SNV	TAS2R38:NM_176817:exon1:c.C367T:p.R123C,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	0.46	P	0.153	B	0.030	N	1.000	N	2.015	M	5.75	T	-0.958	T	0.004	T	0.495	1.331	10.37	4.7	2.603	1.364	13.330	0.126	0.0225688775057	.	.	1.652e-05	0	0	0	0	1.502e-05	0	6.061e-05	1.29e-05	2	154602	rs782008737	1.573e-05	1.573e-05	1.77e-05	1.375e-05	0.0002	1.048e-05	8.75e-06	3.766e-05	2.662e-05	0	2.236e-05	0	0	0	0.0002	1.259e-05	0	8.116e-05	6.579e-06	6.568e-06	1.286e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.013	0.53900	D	0.022	0.57587	D	0.46	0.36353	P	0.153	0.34292	B	0.030122	0.25353	N	0.334875	0.999996	0.08975	N	2.39	0.68882	M	5.75	0.00703	T	-3.21	0.64826	D	0.16	0.16725	-0.9583	0.39497	T	0.004	0.01470	T	10	0.21598619	0.38168	T	0.022569	0.45471	T	0.126	0.34673	0.581	0.70733	0.337621943819	0.33374	0.12837471249178523	0.12762	0.889581959252	0.70159	0.178809210658	0.00083	T	0.02689	0.19803	T	-0.264765	0.12347	T	-0.436565	0.29193	T	0.941500782966614	0.61482	D	0.854315	0.54093	D	0.2488074	0.47871	0.2293741	0.48007	0.2488074	0.47871	0.2293741	0.48006	-4.474	0.30547	T	.	.	0.108	0.20586	B	.	.	2.180747	0.27794	17.58	0.99186058176690817	0.54819	0.12087	0.17051	N	AEFBI	0.214992	0.34040	N	-0.233732542269359	0.31757	1.783967	-0.292884484238944	0.28332	1.578946	0.469903866808745	0.20698	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.7	4.7	0.58776	2.080000	0.41211	.	.	0.676000	0.76740	0.057000	0.21666	0.059000	0.21998	0.494000	0.28882	0.0:0.0:1.0:0.0	13.330	0.59922	832	0.38914	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1773.98	37	chr7	141973323	.	G	A	1773.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.99;DP=1393;ExcessHet=0.0000;FS=2.313;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.66;ReadPosRankSum=0.838;SOR=0.805	GT:AD:DP:GQ:PL	0/1:58,63:121:99:1788,0,1383	20	0	1	0
chr7	142056908	142056908	C	G	exonic	MGAM	.	nonsynonymous SNV	MGAM:NM_001365693:exon30:c.C3659G:p.P1220R	.	.	438	1080	4	0	0	4	0.00184843	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.003	N	1.000	D	3.645	H	-2.5	D	1.001	D	0.870	D	0.883	2.767	15.21	4.17	1.857	7.716	15.210	0.806	0.0211558464645	0.0004	0.000199681	0.0007	0.0001	0	0	0	0.0009	0	0.0015	0.0005951	92	154602	rs200326465	0.0004	0.0004	0.0004	0.0005	0.0029	0.0004	0.0004	0.0019	0.0015	2.987e-05	0.0005	0.0088	2.519e-05	0	0.0029	0.0002	0.0007	0.0018	0.0004	0.0004	0.0004	0.0005	0.0017	0.0003	0.0003	0.0008	0.0006	7.226e-05	0	0.0003	0.0058	0.0002	0	0.0136	0.0004	0.0005	0.0017	0.001	0.78490	D	0.002	0.79402	D	1.0	0.90584	D	1.0	0.97372	D	0.003009	0.35573	N	0.000000	0.999743	0.48716	D	3.95	0.96445	H	-2.5	0.89219	D	-8.43	0.97186	D	0.944	0.95139	1.001	0.97211	D	0.870	0.95681	D	10	0.12902677	0.24548	T	0.021156	0.43885	T	0.806	0.93699	.	.	0.942995736198	0.94240	0.5795499367041943	0.57883	0.308030043683	0.33109	0.676748394966	0.63803	T	0.758078	0.93424	D	0.119071	0.66279	D	0.368182	0.91007	D	0.240350029927846	0.22436	T	0.938806	0.76978	D	0.62005484	0.73766	0.68006474	0.81202	0.62005484	0.73767	0.68006474	0.81203	-12.481	0.87115	D	.	.	0.257	0.49167	B	.;.;.	.;.;.	4.737501	0.76369	26.5	0.99784749463423461	0.87131	0.98222	0.80675	D	AEFI	0.906981	0.86044	D	0.690181247822271	0.78989	6.98396	0.527997906814061	0.69882	5.424123	0.999984859065071	0.51787	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.17	4.17	0.48303	7.539000	0.80984	.	.	0.333000	0.19617	1.000000	0.71638	1.000000	0.68203	0.731000	0.35132	0.0:1.0:0.0:0.0	15.210	0.72902	.	.	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.04762	4992.11	46	chr7	142056908	.	C	G	4992.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=2.51;DP=1208;ExcessHet=0.1072;FS=0.000;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=12.24;ReadPosRankSum=1.58;SOR=0.645	GT:AD:DP:GQ:PL	0/1:109,109:218:99:2743,0,2508	19	0	2	0
chr7	142220968	142220968	A	G	exonic	MGAM2	.	nonsynonymous SNV	MGAM2:NM_001293626:exon48:c.A6457G:p.S2153G,	.	.	440	1079	3	0	0	3	0.00138825	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	.	.	.	.	.	.	.	.	.	.	.	.	-0.931	T	0.088	T	0.036	1.475	10.88	-1.69	-0.018	0.047	2.445	0.029	0.0188390463707	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1172635891	7.269e-06	6.361e-06	3.962e-06	1.007e-05	0.0001	1.7e-06	1.15e-06	3.885e-05	2.308e-05	0	0.0001	0	0	0	0	0	0	0	1.318e-05	1.313e-05	1.289e-05	1.349e-05	0.0001	2.19e-06	8.2e-07	2.274e-05	9.12e-06	0	0	0.0001	0	0	0	0	0	0	0	0.005	0.63226	D	0.003	0.76473	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.53	0.16393	N	0.051	0.02272	-0.9308	0.44021	T	0.088	0.34023	T	4	0.10734582	0.19935	T	0.018839	0.41032	T	0.029	0.06676	.	.	0.0138822411134	0.00435	0.23982746766678162	0.23896	.	.	.	.	.	0.00833	0.07654	T	-0.478619	0.00753	T	-0.731631	0.04254	T	0.0474781360814167	0.05051	T	.	.	.	0.04891921	0.08603	0.06741225	0.13943	0.04891921	0.08602	0.06741225	0.13943	-6.16	0.47598	T	.	.	0.082	0.08512	B	.	.	0.079220	0.04858	1.450	0.9528442952918873	0.26582	0.02381	0.06765	N	AEFBI	0.076038	0.15287	N	-0.674164023522185	0.16759	0.8567431	-0.870405487434418	0.12798	0.6603914	1.86898063413099E-5	0.02871	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	3.07	-1.69	0.07747	-0.367000	0.07607	.	.	0.648000	0.52827	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.4314:0.0:0.1377:0.4309	2.445	0.04230	934	0.15400	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	3143.98	46	chr7	142220968	.	A	G	3143.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.370e-01;DP=968;ExcessHet=0.0000;FS=0.459;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.58;ReadPosRankSum=1.03;SOR=0.729	GT:AD:DP:GQ:PL	0/1:133,117:250:99:3158,0,3692	20	0	1	0
chr7	142864297	142864299	CCT	-	exonic	EPHB6	.	nonframeshift deletion	EPHB6:NM_004445:exon7:c.497_499del:p.S177del,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0090	.	0.0030	0.0009	0.0027	0.0001	0.0030	0.0040	0.0023	0.0022	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.881	60299.65	90	chr7	142864293	.	CCCTCCT	CCCT,C,CCCTCCTCCT	60299.65	.	AC=37,1,2;AF=0.881,0.024,0.048;AN=42;BaseQRankSum=0.649;DP=1834;ExcessHet=0.1072;FS=1.273;InbreedingCoeff=-0.0500;MLEAC=37,1,2;MLEAF=0.881,0.024,0.048;MQ=60.00;MQRankSum=0.00;QD=30.29;ReadPosRankSum=0.118;SOR=1.001	GT:AD:DP:GQ:PL	1/1:0,73,0,0:73:99:3165,220,0,3165,220,3165,3165,220,3165,3165	0	16	2	0
chr7	142864299	142864299	-	CCT	exonic	EPHB6	.	nonframeshift insertion	EPHB6:NM_004445:exon7:c.499_500insCCT:p.S177_A178insS,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.881	60299.65	90	chr7	142864293	.	CCCTCCT	CCCT,C,CCCTCCTCCT	60299.65	.	AC=37,1,2;AF=0.881,0.024,0.048;AN=42;BaseQRankSum=0.649;DP=1834;ExcessHet=0.1072;FS=1.273;InbreedingCoeff=-0.0500;MLEAC=37,1,2;MLEAF=0.881,0.024,0.048;MQ=60.00;MQRankSum=0.00;QD=30.29;ReadPosRankSum=0.118;SOR=1.001	GT:AD:DP:GQ:PL	1/1:0,73,0,0:73:99:3165,220,0,3165,220,3165,3165,220,3165,3165	0	16	2	0
chr7	143478290	143478290	A	G	exonic	TAS2R41	.	nonsynonymous SNV	TAS2R41:NM_176883:exon1:c.A418G:p.I140V,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.26	T	0.08	B	0.074	B	0.948	N	1.000	N	1.69	L	5.65	T	-0.976	T	0.003	T	0.072	-0.179	3.127	-8.61	-1.743	-1.632	6.528	0.028	0.00241750934598	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs373019967	6.544e-06	0.0009	4.362e-06	8.725e-06	7.733e-06	3.08e-06	2.23e-06	3.33e-06	2.4e-06	0	0	0	0	1.901e-05	0	7.733e-06	0	0	0	1.985e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.149	0.24758	T	0.412	0.14456	T	0.08	0.24543	B	0.074	0.28220	B	0.947612	0.07634	N	1.033800	1	0.08975	N	1.015	0.25427	L	5.65	0.00784	T	-0.47	0.15178	N	0.052	0.02366	-0.9758	0.35948	T	0.003	0.01092	T	10	0.07525703	0.11609	T	0.002418	0.04757	T	0.028	0.06331	0.652	0.78963	0.101711395817	0.09552	0.04758141662796776	0.04701	0.0497017490909	0.05451	0.254782557487	0.04288	T	0.002724	0.02115	T	-0.393424	0.02556	T	-0.802903	0.01831	T	0.103939465538467	0.12785	T	.	.	.	0.047795918	0.08228	0.037618708	0.03453	0.047795918	0.08227	0.037618708	0.03453	-3.217	0.12689	T	.	.	0.092	0.13503	B	.	.	-1.055815	0.00695	0.020	0.53951675314367431	0.05040	0.01208	0.04299	N	AEFBI	0.032596	0.03711	N	-1.54910637092624	0.01540	0.06726581	-1.68964110834314	0.01184	0.05327442	0.999999965671774	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	5.7	-8.61	0.00769	-1.143000	0.03311	-0.836000	0.07236	-0.773000	0.03420	0.000000	0.06391	0.000000	0.08366	0.006000	0.07323	0.279:0.1065:0.5102:0.1042	6.528	0.21510	819	0.41190	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.4286	4409.3	115	chr7	143478290	.	A	G	4409.3	.	AC=18;AF=0.429;AN=42;BaseQRankSum=-2.767e+00;DP=2442;ExcessHet=30.0624;FS=186.672;InbreedingCoeff=-0.7419;MLEAC=18;MLEAF=0.429;MQ=60.00;MQRankSum=0.00;QD=2.22;ReadPosRankSum=1.01;SOR=12.368	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:80,18:98:99:0|1:143478290_A_G:116,0,2758:143478290	3	0	18	0
chr7	143756433	143756433	C	T	exonic	CTAGE6	.	nonsynonymous SNV	CTAGE6:NM_178561:exon1:c.G1226A:p.R409Q,	.	.	442	1073	7	0	0	7	0.00325128	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00832379093602	.	.	1.667e-05	0	0	0	0	3.024e-05	0	0	3.84e-05	1	26028	rs779951636	3.024e-05	4.183e-05	2.188e-05	3.868e-05	0.0010	2.292e-05	2.042e-05	0.0004	0.0003	0	8.954e-05	0	2.521e-05	0	0.0010	2.438e-05	9.995e-05	1.168e-05	3.297e-05	5.922e-05	3.872e-05	2.696e-05	4.427e-05	1.264e-05	8e-06	1.175e-05	6.26e-06	2.42e-05	0	0	0	0	0	0.0034	4.427e-05	0	0	.	.	.	0.12	0.35970	T	0.474	0.36620	P	0.077	0.28532	B	.	.	.	.	.	.	.	1.72	0.44442	L	2.72	0.11947	T	.	.	.	0.066	0.03841	.	.	.	.	.	.	.	0.08006731	0.12953	T	0.008324	0.22029	T	.	.	.	.	0.0884992946249	0.08302	0.20067251948484321	0.19984	.	.	0.448425829411	0.31728	T	0.223387	0.58752	T	-0.360416	0.04107	T	-0.586361	0.13982	T	.	.	.	.	.	.	0.05425641	0.10385	0.085901186	0.19865	0.05425641	0.10385	0.085901186	0.19865	-6.679	0.51652	T	.	.	0.087	0.11076	B	.	.	0.661616	0.10298	7.033	0.40623765120772176	0.02879	0.01930	0.05886	N	AEFI	0.033322	0.03930	N	.	.	.	.	.	.	4.14699847813488E-6	0.01202	0.074636	0.01641	0	0.084543	0.02171	0	0.063197	0.01477	0	0.101684	0.03063	0	.	.	0.109	-0.218	0.12495	0.757000	0.26098	-7.368000	0.01171	-1.015000	0.01753	0.951000	0.33123	0.000000	0.08366	0.004000	0.06068	.	.	.	783	0.47268	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2192.98	33	chr7	143756433	.	C	T	2192.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.00;DP=1283;ExcessHet=0.0000;FS=1.382;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=54.87;MQRankSum=0.644;QD=3.85;ReadPosRankSum=8.000e-03;SOR=0.860	GT:AD:DP:GQ:PL	0/1:447,122:569:99:2207,0,11722	20	0	1	0
chr7	149003925	149003925	T	C	exonic	PDIA4	.	nonsynonymous SNV	PDIA4:NM_001371244:exon10:c.A1810G:p.I604V	.	.	430	1090	2	0	0	2	0.00091659	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	0.108	B	0.353	B	0.000	D	1.000	D	1.245	L	1.89	T	-1.033	T	0.088	T	0.643	4.716	26.2	5.81	2.221	7.705	16.162	0.202	0.0108144490772	.	0.000399361	7.446e-05	0	0	0	0	0	0	0.0006	8.41e-05	13	154602	rs546633710	6.911e-05	6.909e-05	4.085e-05	9.766e-05	0.0008	5.781e-05	5.393e-05	0.0007	0.0006	0	4.48e-05	0	0	0	0.0005	1.529e-05	0.0001	0.0008	3.281e-05	3.281e-05	1.284e-05	5.367e-05	0.0006	1.26e-05	7.97e-06	0.0002	8.985e-05	0	0	0	0	0	0	0	2.939e-05	0	0.0006	0.005	0.63226	D	0.013	0.63109	D	0.108	0.26116	B	0.353	0.42910	B	0.000000	0.84330	D	0.000000	1	0.81001	D	1.375	0.34280	L	1.89	0.23688	T	-0.98	0.25986	N	0.691	0.69649	-1.0332	0.19427	T	0.088	0.34105	T	10	0.45044187	0.58664	T	0.010814	0.27768	T	0.202	0.48754	0.807	0.92442	0.207176502487	0.20327	.	.	0.212072620509	0.23704	0.610491096973	0.54385	T	0.030147	0.21435	T	-0.246163	0.14573	T	-0.233889	0.51394	T	0.136640154066963	0.15983	T	0.960104	0.84924	D	0.25180015	0.48191	0.24756321	0.50289	0.25180015	0.48191	0.24756321	0.50288	-6.258	0.48389	T	.	.	.	.	.	.	.	4.069530	0.60449	24.2	0.99906488622798895	0.97726	0.96187	0.67934	D	AEFBCI	0.953011	0.96894	D	0.239941038803215	0.53144	3.484599	0.399452941714889	0.61530	4.354506	0.999999994351862	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.81	5.81	0.92413	7.643000	0.82546	7.769000	0.68436	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:0.0:0.0:1.0	16.162	0.81535	878	0.29785	Thioredoxin domain|Thioredoxin domain|Disulphide isomerase	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1240.98	44	chr7	149003925	.	T	C	1240.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.910e+00;DP=934;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.70;ReadPosRankSum=0.606;SOR=0.717	GT:AD:DP:GQ:PL	0/1:61,55:116:99:1255,0,1562	20	0	1	0
chr7	150337094	150337094	C	A	exonic	LRRC61	.	nonsynonymous SNV	LRRC61:NM_023942:exon2:c.C233A:p.A78D	.	.	420	1101	1	0	0	1	0.000453926	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.34	T	0.624	P	0.334	B	0.109	N	1.000	N	0.76	N	2.98	T	-1.009	T	0.021	T	0.477	1.164	9.737	4.17	1.081	0.991	7.359	0.113	0.00678798307751	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.23	0.18308	T	0.113	0.36901	T	0.624	0.40023	P	0.334	0.42203	B	0.109412	0.19486	N	0.546439	1	0.08975	N	0.495	0.13372	N	2.98	0.09356	T	-1.94	0.45042	N	0.434	0.51048	-1.0086	0.27354	T	0.021	0.08732	T	10	0.13856083	0.26352	T	0.006788	0.17953	T	0.113	0.31778	0.348	0.34436	0.227934060464	0.22382	0.4388381813387996	0.43800	0.577643901805	0.53680	0.506503224373	0.39734	T	0.013734	0.11823	T	-0.177045	0.24176	T	-0.492089	0.23173	T	0.233608856797218	0.22122	T	0.940956	0.77922	D	0.13187481	0.30725	0.1291117	0.31051	0.13187481	0.30725	0.1291117	0.31050	-8.112	0.61832	D	.	.	0.407	0.59986	A	.;.;.	.;.;.	2.274582	0.29073	18.01	0.98806804831104555	0.46541	0.22844	0.21882	N	AEFBCI	0.123821	0.23960	N	-0.506016277919832	0.21886	1.164702	-0.552051063841876	0.20751	1.119475	0.989048105596504	0.31706	0.645754	0.44609	0	0.702456	0.74545	0	0.696144	0.63334	0	0.579976	0.35079	0	.	.	5.08	4.17	0.48303	2.066000	0.41078	0.579000	0.19686	0.598000	0.34611	0.006000	0.17386	0.040000	0.21562	0.089000	0.17737	0.0:0.7922:0.0:0.2078	7.359	0.25908	940	0.13648	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2277.98	34	chr7	150337094	.	C	A	2277.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.337e+00;DP=858;ExcessHet=0.0000;FS=1.245;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.40;ReadPosRankSum=0.330;SOR=0.567	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:107,63:170:99:0|1:150337094_C_A:2292,0,4253:150337094	20	0	1	0
chr7	150337196	150337196	C	T	exonic	LRRC61	.	nonsynonymous SNV	LRRC61:NM_023942:exon2:c.C335T:p.P112L	.	.	421	1100	1	0	0	1	0.000454339	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.052	B	0.006	B	0.046	N	1.000	N	-1.575	N	2.23	T	-0.930	T	0.008	T	0.222	-1.929	0.008	3.64	2.151	1.627	4.149	0.097	0.00611259383232	7.7e-05	.	3.347e-05	9.923e-05	0	0	0	4.576e-05	0	0	2.59e-05	4	154602	rs149743914	2.956e-05	3.01e-05	3.148e-05	2.763e-05	8.961e-05	2.227e-05	1.98e-05	2.375e-05	1.942e-05	8.961e-05	4.472e-05	0	2.519e-05	0	0	3.058e-05	3.315e-05	1.159e-05	4.599e-05	4.597e-05	6.422e-05	2.689e-05	9.647e-05	2.109e-05	1.527e-05	3.248e-05	1.914e-05	9.647e-05	0	0	0	0	0	0	2.94e-05	0.0005	0	0.836	0.02840	T	0.901	0.03039	T	0.052	0.22494	B	0.006	0.12133	B	0.046079	0.23474	N	0.427094	0.999999	0.08975	N	1.6	0.40776	L	2.23	0.18083	T	1.98	0.00416	N	0.1	0.09914	-0.9299	0.44153	T	0.008	0.02884	T	10	0.040760547	0.02672	T	0.006113	0.15993	T	0.097	0.27909	.	.	0.101711395817	0.09552	0.32984841699066925	0.32897	0.194839770936	0.21820	0.529018163681	0.42896	T	5.78E-4	0.00232	T	-0.369644	0.03612	T	-0.586597	0.13961	T	0.0291486642528438	0.01861	T	0.692831	0.30243	T	0.023108331	0.01023	0.02830159	0.01054	0.023108331	0.01023	0.02830159	0.01054	-1.343	0.01472	T	.	.	0.085	0.09965	B	.;.;.	.;.;.	1.254789	0.16519	12.59	0.68547662947177868	0.08692	0.02577	0.07126	N	AEFDBCI	0.049911	0.08670	N	-1.11177421482465	0.06432	0.2960979	-0.974405042594407	0.10362	0.521405	0.999945844409583	0.47345	0.645754	0.44609	0	0.702456	0.74545	0	0.696144	0.63334	0	0.586402	0.36253	0	.	.	4.66	3.64	0.40864	1.361000	0.33740	2.596000	0.33495	0.548000	0.25860	0.021000	0.19753	0.818000	0.27101	0.473000	0.28408	0.0:0.6984:0.0:0.3016	4.149	0.09696	940	0.13648	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1427.98	34	chr7	150337196	.	C	T	1427.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.14;DP=1442;ExcessHet=0.0000;FS=3.920;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.52;ReadPosRankSum=-1.092e+00;SOR=0.954	GT:AD:DP:GQ:PL	0/1:90,60:150:99:1442,0,2304	20	0	1	0
chr7	152229940	152229940	A	G	exonic	KMT2C	.	nonsynonymous SNV	KMT2C:NM_170606:exon18:c.T2959C:p.Y987H,	.	YES	526	320	669	7	0	683	0.516251	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.999	D	0.002	U	1.000	D	2.11	M	-2.28	D	0.656	D	0.754	D	0.82	3.081	16.29	4.67	1.866	9.283	14.405	0.432	.	.	.	0.4728	0.4914	0.4863	0.4887	0.4732	0.4636	0.4765	0.4809	0.0018057	47	26028	rs77735469	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	.	.	.	1.0	0.90584	D	0.999	0.92359	D	0.001979	0.37549	U	0.000000	0.971252	0.38857	D	2.22	0.62911	M	-2.28	0.87512	D	-4.01	0.75456	D	0.934	0.93959	0.656	0.92620	D	0.754	0.91609	D	10	0.012159407	0.00262	T	.	.	.	0.815	0.94046	.	.	.	.	0.5529033843776924	0.55216	2.65390431601	0.98462	0.900072455406	0.96449	D	0.576893	0.86083	D	0.315486	0.84148	D	0.215397	0.83941	D	0.0127532117779022	0.00216	T	0.984602	0.94707	D	0.6018943	0.72793	0.5814447	0.75738	0.6018943	0.72794	0.5814447	0.75739	-9.256	0.69330	D	0.6635921527459159	0.73748	0.854	0.79986	P	.;.	.;.	4.408107	0.68175	25.2	0.99273378386417865	0.57627	0.99067	0.90742	D	AEFBI	0.864295	0.78306	D	0.740431229350387	0.82279	7.723933	0.698705506977523	0.82280	7.728171	0.999787248307013	0.43007	0.651	0.46895	0	0.708844	0.79440	0	0.602189	0.34648	0	0.683762	0.67416	0	.	.	4.67	4.67	0.58089	9.318000	0.95450	11.148000	0.87267	0.689000	0.82905	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	1.0:0.0:0.0:0.0	14.405	0.66648	929	0.16858	Zinc finger, PHD-finger|Zinc finger, RING-type|Zinc finger, PHD-type;Zinc finger, PHD-finger|Zinc finger, RING-type|Zinc finger, PHD-type	.	.	.	.	.	Benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0.4048	21206.9	371	chr7	152229940	.	A	G	21206.9	.	AC=17;AF=0.405;AN=42;BaseQRankSum=-6.890e-01;DP=6803;ExcessHet=25.1139;FS=0.000;InbreedingCoeff=-0.6800;MLEAC=17;MLEAF=0.405;MQ=44.68;MQRankSum=0.452;QD=3.93;ReadPosRankSum=0.208;SOR=0.720	GT:AD:DP:GQ:PL	0/1:268,46:314:99:302,0,9392	4	0	17	0
chr7	156736513	156736513	C	G	exonic	LMBR1	.	nonsynonymous SNV	LMBR1:NM_001350953:exon10:c.G860C:p.G287A	Acheiropody, Autosomal recessive;Hypoplastic or aplastic tibia with polydactyly, Autosomal dominant;Laurin-Sandrow syndrome, Autosomal dominant;Polydactyly, preaxial type II, Autosomal dominant;Syndactyly, type IV, Autosomal dominant;Triphalangeal thumb, type I, Autosomal dominant;Triphalangeal thumb-polysyndactyly syndrome, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.75	T	0.0	B	0.0	B	0.003	U	1.000	N	.	.	1.07	T	-1.035	T	0.036	T	0.039	-1.751	0.010	-1.69	-0.490	-0.887	2.769	0.015	0.00150614267822	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.737	0.03730	T	0.742	0.04947	T	.	.	.	.	.	.	0.003055	0.35512	U	0.000000	1	0.08975	N	.	.	.	1.07	0.39586	T	0.36	0.03700	N	.	.	-1.0354	0.18731	T	0.036	0.15683	T	9	0.061228067	0.07643	T	0.001506	0.02318	T	0.015	0.02232	.	.	0.0551355673512	0.04727	.	.	.	.	.	.	.	0.00383	0.03242	T	-0.375517	0.03324	T	-0.777181	0.02539	T	0.0953895747661591	0.11842	T	0.426357	0.11459	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.102	0.18037	B	.	.	-0.217594	0.03003	0.453	0.096758296991010767	0.00104	0.00485	0.02305	N	AEFBI	0.066300	0.12978	N	-1.38224089824468	0.02805	0.1243675	-1.49979183924639	0.02347	0.1077814	0.10501068513891	0.16491	0.559995	0.30671	0	0.446627	0.06534	0	0.573888	0.23631	0	0.550183	0.17644	0	.	.	1.83	-1.69	0.07747	-0.556000	0.06082	-1.611000	0.05064	-0.193000	0.09282	0.000000	0.06391	0.000000	0.08366	0.011000	0.09372	0.0:0.3893:0.2507:0.36	2.769	0.05000	958	0.09170	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.07692	164.13	183	chr7	156736513	.	C	G	164.13	.	AC=2;AF=0.077;AN=26;BaseQRankSum=-5.160e+00;DP=2584;ExcessHet=0.1072;FS=180.941;InbreedingCoeff=-0.1667;MLEAC=3;MLEAF=0.115;MQ=60.00;MQRankSum=0.00;QD=0.43;ReadPosRankSum=3.13;SOR=8.222	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:165,30:197:78:.:.:78,0,5599	11	0	2	8
chr8	6445091	6445091	G	A	exonic	MCPH1	.	nonsynonymous SNV	MCPH1:NM_001172575:exon7:c.G1225A:p.E409K	Microcephaly 1, primary, autosomal recessive, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	196068	not_provided|Microcephaly_1,_primary,_autosomal_recessive	MedGen:C3661900|MONDO:MONDO:0009617,MedGen:C1855081,OMIM:251200,Orphanet:2512,Orphanet:52183	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.02	D	0.37	B	0.206	B	0.583	N	1.000	N	2.19	M	2.74	T	-0.988	T	0.053	T	0.201	3.672	18.66	3.07	0.459	0.912	8.669	0.104	0.00730878203153	0.0011	.	0.0008	0.0003	8.645e-05	0	0.0002	0.0014	0	0	0.0007697	119	154602	rs201039834	0.0014	0.0014	0.0014	0.0013	0.0017	0.0013	0.0013	0.0016	0.0016	0.0002	0.0001	0	0	5.616e-05	0.0002	0.0017	0.0011	1.159e-05	0.0008	0.0008	0.0007	0.0008	0.0014	0.0007	0.0006	0.0012	0.0011	0.0002	0.0099	0.0002	0	0	0	0	0.0014	0.0005	0	0.019	0.52492	D	0.649	0.12456	T	0.277	0.31978	B	0.206	0.37138	B	0.582544	0.05544	N	1.191370	1	0.08975	N	1.555	0.39373	L	2.74	0.11730	T	-1.97	0.45587	N	0.075	0.07262	-0.9879	0.33126	T	0.053	0.22384	T	10	0.004704267	0.00099	T	0.007309	0.19388	T	0.104	0.29647	.	.	0.445711490874	0.44190	0.2184080419756554	0.21756	.	.	0.265304654837	0.05539	T	0.140554	0.47515	T	-0.558055	0.00261	T	-0.599011	0.12895	T	0.0151662829145027	0.00331	T	.	.	.	0.06913597	0.15121	0.090270266	0.21158	0.06913597	0.15121	0.090270266	0.21157	-3.263	0.24400	T	.	.	0.088	0.25785	B	.;.;.	.;.;.	1.658267	0.21151	15.07	0.99245315059914074	0.56695	0.05730	0.11656	N	AEFBI	0.034785	0.04369	N	-0.365640831561271	0.26702	1.459293	-0.407094545676477	0.24789	1.359421	0.906324626680782	0.26228	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.87	3.07	0.34476	1.110000	0.30761	1.524000	0.27113	-0.106000	0.15538	0.009000	0.18154	0.005000	0.19230	0.920000	0.45560	0.0791:0.306:0.615:0.0	8.669	0.33299	975	0.05339	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1974.98	44	chr8	6445091	.	G	A	1974.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.431;DP=1274;ExcessHet=0.0000;FS=1.947;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.34;ReadPosRankSum=0.185;SOR=0.760	GT:AD:DP:GQ:PL	0/1:84,76:160:99:1989,0,2176	20	0	1	0
chr8	6811225	6811225	C	T	exonic	XKR5	.	nonsynonymous SNV	XKR5:NM_207411:exon7:c.G2034A:p.M678I	.	.	431	1057	30	4	0	38	0.017658	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00259585	0.0053	0.0011	0.0033	0	0.0031	0.0041	0.0047	0.0083	0.0013971	216	154602	rs117373164	0.0045	0.0043	0.0045	0.0046	0.0104	0.0044	0.0044	0.0082	0.0075	0.0006	0.0023	0.0040	2.798e-05	0.0027	0.0104	0.0048	0.0037	0.0065	0.0038	0.0038	0.0038	0.0038	0.0068	0.0036	0.0035	0.0052	0.0051	0.0012	0	0.0037	0.0040	0	0.0024	0.0136	0.0057	0.0052	0.0068	.	.	.	0.488	0.11621	T	.	.	.	.	.	.	.	.	.	.	.	.	.	1.5	0.37844	L	.	.	.	.	.	.	0.1	0.08227	.	.	.	.	.	.	.	0.0035387576	0.00063	T	.	.	.	.	.	.	.	0.28297238246	0.27903	0.03234679662189915	0.03182	.	.	0.274632334709	0.06754	T	0.008931	0.08161	T	-0.44065	0.01282	T	-0.402014	0.33151	T	.	.	.	0.39776	0.10046	T	0.48498473	0.66201	0.43728334	0.67153	0.48498473	0.66202	0.43728334	0.67153	-2.876	0.08906	T	.	.	0.165	0.36375	B	.	.	0.067707	0.04768	1.388	0.57063381236429611	0.05687	0.03827	0.09170	N	AEFDBIJ	.	.	.	.	.	.	.	.	.	0.999941470635816	0.47345	0.262962	0.04601	0	0.166317	0.03975	0	0.292756	0.05521	0	0.076217	0.02064	0	0.0496316	0.09113	4.94	0.262	0.14853	-0.371000	0.07569	-0.713000	0.07741	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.0:0.5149:0.0:0.4851	7.586	0.27158	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	0.02381	1405.98	34	chr8	6811225	.	C	T	1405.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.428e+00;DP=787;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.20;ReadPosRankSum=-1.565e+00;SOR=0.664	GT:AD:DP:GQ:PL	0/1:50,49:99:99:1420,0,1484	20	0	1	0
chr8	10609944	10609944	A	G	exonic	RP1L1	.	nonsynonymous SNV	RP1L1:NM_178857:exon4:c.T4154C:p.L1385P,	Occult macular dystrophy, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06	T	0.027	B	0.014	B	.	.	1.000	N	0.345	N	3.31	T	-0.952	T	0.010	T	0.123	0.824	8.317	-1.96	-0.572	0.007	4.524	0.019	0.00154599027019	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.957e-07	6.841e-06	1.384e-06	0	9.147e-07	0	0	.	.	0	0	0	0	0	0	9.147e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	0.53172	D	0.352	0.17372	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	3.31	0.06291	T	-0.84	0.22944	N	0.246	0.27792	-0.9521	0.40608	T	0.010	0.03627	T	9	0.09340763	0.16528	T	0.001546	0.02420	T	0.019	0.03383	0.19	0.10039	0.252681307341	0.24864	0.04820050725330025	0.04763	.	.	0.277951002121	0.07208	T	.	.	.	-0.338111	0.05520	T	-0.723449	0.04631	T	0.104427913888091	0.12837	T	0.312769	0.06128	T	0.18423171	0.39729	0.18186693	0.41077	0.18423171	0.39728	0.18186693	0.41076	-5.006	0.36905	T	.	.	0.116	0.23500	B	.	.	1.339715	0.17462	13.18	0.83328979539444226	0.14666	0.00623	0.02749	N	AEFDBI	0.039816	0.05836	N	-1.21499860110366	0.04781	0.2165456	-1.31279977474022	0.04264	0.2007433	1.76998291139271E-4	0.05786	0.580535	0.33130	0	0.573888	0.26702	0	0.578056	0.29568	0	0.604944	0.38103	0	.	.	1.72	-1.96	0.07113	-0.566000	0.06013	-0.531000	0.08635	0.410000	0.20643	0.000000	0.06391	0.000000	0.08366	0.014000	0.10232	0.4099:0.1824:0.4077:0.0	4.524	0.11378	794	0.45591	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.4444	23209.27	218	chr8	10609944	.	A	G	23209.27	.	AC=16;AF=0.444;AN=36;BaseQRankSum=-3.977e+00;DP=5343;ExcessHet=20.9642;FS=235.485;InbreedingCoeff=-0.7143;MLEAC=18;MLEAF=0.500;MQ=60.00;MQRankSum=0.00;QD=5.49;ReadPosRankSum=0.786;SOR=14.188	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:212,104:316:99:0|1:10609943_C_T:1850,0,7346:10609943	2	0	16	3
chr8	10609948	10609948	C	G	exonic	RP1L1	.	nonsynonymous SNV	RP1L1:NM_178857:exon4:c.G4150C:p.G1384R,	Occult macular dystrophy, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	3188301	Retinal_dystrophy	Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.11	T	0.992	D	0.584	P	.	.	1.000	N	0.345	N	3.32	T	-0.947	T	0.014	T	0.044	-1.090	0.153	0.493	0.514	-0.384	6.300	0.045	0.00162238193855	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.94e-06	1.642e-05	1.095e-05	6.912e-06	0.0003	4.99e-06	3.84e-06	0.0002	0.0002	0	0	0	0.0003	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.376	0.11334	T	0.121	0.35840	T	.	.	.	.	.	.	.	.	.	.	0.999997	0.08975	N	.	.	.	3.32	0.06214	T	-0.05	0.07736	N	0.117	0.10626	-0.9469	0.41498	T	0.014	0.05465	T	9	0.10402462	0.19156	T	0.001622	0.02625	T	0.045	0.12272	0.278	0.23164	0.316788114976	0.31282	0.06568765536653219	0.06507	.	.	0.222160607576	0.01438	T	.	.	.	-0.397244	0.02413	T	-0.80839	0.01701	T	0.0790720420029634	0.09867	T	0.534647	0.17878	T	0.060357437	0.12375	0.07936777	0.17862	0.060357437	0.12375	0.07936777	0.17861	-6.055	0.46737	T	.	.	0.147	0.32517	B	.	.	0.672697	0.10411	7.134	0.053606148112299815	0.00010	0.02277	0.06569	N	AEFDBI	0.028927	0.02637	N	-0.705380915931966	0.15869	0.8036573	-0.931140720808663	0.11361	0.5783139	0.0012533547619343	0.08381	0.580535	0.33130	0	0.573888	0.26702	0	0.578056	0.29568	0	0.604944	0.38103	0	.	.	0.493	0.493	0.16087	-0.335000	0.07917	0.238000	0.16272	0.452000	0.21348	0.000000	0.06391	0.002000	0.18203	0.010000	0.09038	0.0:1.0:0.0:0.0	6.300	0.20313	794	0.45591	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.5	28582.14	217	chr8	10609948	.	C	G,T	28582.14	.	AC=15,2;AF=0.441,0.059;AN=34;BaseQRankSum=-3.070e+00;DP=5190;ExcessHet=25.1139;FS=287.113;InbreedingCoeff=-0.8261;MLEAC=17,2;MLEAF=0.500,0.059;MQ=60.00;MQRankSum=0.00;QD=6.48;ReadPosRankSum=0.966;SOR=14.460	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:203,111,0:314:99:0|1:10609943_C_T:2203,0,7087,2805,7407,10212:10609943	0	0	15	4
chr8	10609948	10609948	C	T	exonic	RP1L1	.	nonsynonymous SNV	RP1L1:NM_178857:exon4:c.G4150A:p.G1384R,	Occult macular dystrophy, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.11	T	0.992	D	0.584	P	.	.	1.000	N	0.345	N	3.32	T	-0.947	T	0.014	T	0.044	-0.967	0.313	0.493	0.514	-0.384	6.300	0.050	0.00160529655429	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.751e-06	2.736e-06	1.369e-06	4.147e-06	3.01e-05	6.4e-07	4.3e-07	7.2e-07	2e-07	3.01e-05	0	0	0	0	0	2.712e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.376	0.11334	T	0.121	0.35840	T	.	.	.	.	.	.	.	.	.	.	0.999998	0.08975	N	.	.	.	3.32	0.06214	T	-0.05	0.07736	N	0.117	0.10626	-0.9469	0.41498	T	0.014	0.05465	T	9	0.104384124	0.19241	T	0.001605	0.02574	T	0.050	0.13987	0.278	0.23164	0.316788114976	0.31282	0.06568764159549773	0.06507	.	.	0.222160607576	0.01438	T	.	.	.	-0.39725	0.02413	T	-0.808399	0.01701	T	0.0816829286653207	0.10202	T	0.534647	0.17878	T	0.060357437	0.12375	0.07936777	0.17862	0.060357437	0.12375	0.07936777	0.17861	-6.055	0.46737	T	.	.	0.147	0.32517	B	.	.	0.735258	0.11045	7.700	0.060865936656048288	0.00019	0.01778	0.05572	N	AEFDBI	0.030371	0.03043	N	-0.705380915931966	0.15869	0.8036573	-0.931140720808663	0.11361	0.5783139	0.0012533547619343	0.08381	0.580535	0.33130	0	0.573888	0.26702	0	0.578056	0.29568	0	0.604944	0.38103	0	.	.	0.493	0.493	0.16087	-0.335000	0.07917	0.238000	0.16272	0.452000	0.21348	0.000000	0.06391	0.002000	0.18203	0.010000	0.09038	0.0:1.0:0.0:0.0	6.300	0.20313	794	0.45591	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.5	28582.14	217	chr8	10609948	.	C	G,T	28582.14	.	AC=15,2;AF=0.441,0.059;AN=34;BaseQRankSum=-3.070e+00;DP=5190;ExcessHet=25.1139;FS=287.113;InbreedingCoeff=-0.8261;MLEAC=17,2;MLEAF=0.500,0.059;MQ=60.00;MQRankSum=0.00;QD=6.48;ReadPosRankSum=0.966;SOR=14.460	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:203,111,0:314:99:0|1:10609943_C_T:2203,0,7087,2805,7407,10212:10609943	0	0	15	4
chr8	11786187	11786187	G	A	exonic	NEIL2	.	nonsynonymous SNV	NEIL2:NM_001135747:exon4:c.G730A:p.E244K	.	.	415	1098	9	0	0	9	0.00408163	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.66	T	0.103	B	0.017	B	0.000	D	1.000	N	0.345	N	1.8	T	-1.002	T	0.031	T	0.241	0.895	8.638	3.5	0.708	0.815	10.376	0.058	0.00696792001523	0.0008	0.000399361	0.0013	0.0001	0.0010	0	0.0002	0.0011	0.0035	0.0038	0.0010608	164	154602	rs139505292	0.0007	0.0007	0.0006	0.0008	0.0034	0.0007	0.0006	0.0031	0.0030	0	0.0006	0.0064	2.519e-05	0.0003	0.0034	0.0004	0.0012	0.0034	0.0005	0.0005	0.0005	0.0006	0.0031	0.0004	0.0004	0.0019	0.0015	2.406e-05	0	0.0003	0.0049	0.0002	9.422e-05	0.0034	0.0005	0.0014	0.0031	0.131	0.43708	T	0.329	0.18617	T	0.005	0.12996	B	0.0	0.01387	B	0.000209	0.47681	D	0.222920	1	0.08975	N	0	0.06538	N	1.8	0.25344	T	-0.05	0.08340	N	0.133	0.12913	-1.0023	0.29255	T	0.031	0.13242	T	10	0.0040971935	0.00080	T	0.006968	0.18458	T	0.058	0.16647	.	.	0.300110245524	0.29617	0.34754261260705704	0.34668	0.00381862230629	0.00329	0.30558231473	0.11240	T	0.003488	0.02899	T	-0.550869	0.00288	T	-0.565218	0.15890	T	0.0106757450994716	0.00150	T	0.561144	0.25234	T	0.03756154	0.04840	0.044500418	0.05777	0.03756154	0.04840	0.044500418	0.05777	-5.355	0.41044	T	.	.	0.057	0.01161	B	.;.;.;.;.	.;.;.;.;.	1.644389	0.20984	15.00	0.97347658185118491	0.33505	0.05165	0.10981	N	AEFBI	0.057606	0.10746	N	-1.08473695114724	0.06924	0.3201329	-1.03178697427135	0.09090	0.4503541	0.965819103094218	0.28858	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.635551	0.53088	0	.	.	5.34	3.5	0.39181	0.850000	0.27389	.	.	-0.172000	0.11096	0.001000	0.13787	0.013000	0.20296	0.002000	0.04165	0.0:0.6742:0.2549:0.0709	10.376	0.43265	958	0.09170	Zinc finger, DNA glycosylase/AP lyase-type;Zinc finger, DNA glycosylase/AP lyase-type;.;.;Zinc finger, DNA glycosylase/AP lyase-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2987.98	74	chr8	11786187	.	G	A	2987.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-8.300e-01;DP=1360;ExcessHet=0.0000;FS=2.665;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.15;ReadPosRankSum=0.702;SOR=0.516	GT:AD:DP:GQ:PL	0/1:76,109:185:99:3002,0,2008	20	0	1	0
chr8	17755053	17755053	T	A	exonic	MTUS1	.	nonsynonymous SNV	MTUS1:NM_001001924:exon2:c.A755T:p.Q252L	.	.	424	1086	11	1	0	13	0.00594966	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.99	D	0.814	P	0.246	N	1.000	D	0.975	L	2.96	T	-1.074	T	0.069	T	0.592	3.282	17.02	4.38	2.200	0.169	11.848	0.135	.	0.0004	0.00139776	0.0027	0	0.0012	0	0	0.0010	0.0011	0.0146	0.0021798	337	154602	rs201091356	0.0013	0.0013	0.0008	0.0018	0.0146	0.0012	0.0012	0.0139	0.0137	5.974e-05	0.0007	0.0097	0	0	0.0059	0.0002	0.0018	0.0146	0.0007	0.0007	0.0005	0.0010	0.0104	0.0006	0.0006	0.0081	0.0073	9.618e-05	0	0.0002	0.0081	0	0	0.0034	0.0003	0.0019	0.0104	0.002	0.72154	D	0.027	0.55341	D	0.728	0.42542	P	0.503	0.47728	P	0.246262	0.15605	N	0.603585	0.876748	0.35669	D	0.975	0.24501	L	2.96	0.09542	T	-1.66	0.39692	N	0.261	0.29544	-1.0737	0.08619	T	0.069	0.28113	T	9	0.003704518	0.00068	T	.	.	.	0.135	0.36572	.	.	0.524480850804	0.52094	0.21178826439603976	0.21094	.	.	0.281745374203	0.07736	T	0.021751	0.16884	T	-0.462382	0.00950	T	-0.42528	0.30473	T	0.050066761016761	0.05511	T	0.636336	0.25008	T	0.14954525	0.34087	0.14167039	0.33729	0.12587784	0.29498	0.18762806	0.42005	-4.204	0.26997	T	.	.	0.158	0.39220	B	.;.;.	.;.;.	3.085527	0.41523	21.4	0.99547527987600504	0.70898	0.76092	0.37294	D	AEFDGBCI	0.241453	0.36307	N	0.14267188873995	0.48465	3.058495	0.17166341923962	0.48301	3.04789	0.999999989737451	0.74766	0.533608	0.22052	0	0.491513	0.07743	0	0.685742	0.62368	0	0.620976	0.48614	0	.	.	4.38	4.38	0.52019	0.255000	0.18102	3.730000	0.39615	0.665000	0.62972	0.682000	0.28457	1.000000	0.68203	0.861000	0.40843	0.0:0.0:0.0:1.0	11.848	0.51671	559	0.71409	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	2688.98	153	chr8	17755053	.	T	A	2688.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.090e-01;DP=3455;ExcessHet=0.0000;FS=2.956;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.79;ReadPosRankSum=0.516;SOR=0.733	GT:AD:DP:GQ:PL	0/1:124,104:228:99:2703,0,3378	20	0	1	0
chr8	23529058	23529058	G	C	exonic	SLC25A37	.	nonsynonymous SNV	SLC25A37:NM_016612:exon1:c.G56C:p.G19A,	.	.	389	1117	16	0	0	16	0.00711111	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.49	T	0.93	P	0.475	P	0.004	N	0.963	D	0.695	N	-1.01	T	-0.716	T	0.255	T	0.477	2.880	15.59	3.86	1.372	5.476	8.922	0.318	.	.	.	0.0027	0.0005	0.0060	0	0	0.0040	0.0142	0.0010	0.0008603	133	154602	rs200459609	0.0009	0.0009	0.0009	0.0010	0.0257	0.0009	0.0009	0.0223	0.0210	0.0003	0.0016	0.0099	0	5.994e-05	0.0257	0.0006	0.0019	0.0014	0.0010	0.0010	0.0010	0.0009	0.0021	0.0009	0.0008	0.0015	0.0013	0.0002	0	0.0021	0.0101	0	0	0.0171	0.0009	0.0028	0.0006	0.13	0.26740	T	0.224	0.25591	T	0.734	0.42776	P	0.138	0.33406	B	0.003680	0.34636	N	0.246987	0.962674	0.38304	D	0.805	0.20218	L	-1.01	0.76168	T	-0.6	0.17834	N	0.373	0.41459	-0.7164	0.59639	T	0.255	0.62575	T	10	0.0068131685	0.00155	T	.	.	.	0.318	0.64008	.	.	0.745232050416	0.74294	0.17578501024551194	0.17497	0.936360437383	0.72034	0.768285036087	0.77169	T	0.045788	0.27230	T	-0.265721	0.12238	T	-0.184545	0.56100	T	0.102972446768267	0.12681	T	0.816218	0.47186	T	0.17310637	0.38040	0.27671754	0.53619	0.17310637	0.38040	0.27671754	0.53618	-4.198	0.26722	T	.	.	0.093	0.14201	B	.	.	3.904529	0.56897	23.8	0.98253269564361456	0.39594	0.72977	0.35704	D	ALL	0.554127	0.56510	D	0.0984579257895524	0.46391	2.880142	0.184301842967826	0.48985	3.107453	0.999999999999906	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	4.73	3.86	0.43689	5.090000	0.64332	6.436000	0.55643	0.590000	0.31872	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.1013:0.0:0.8987:0.0	8.922	0.34778	820	0.40914	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	755.98	35	chr8	23529058	.	G	C	755.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.46;DP=772;ExcessHet=0.0000;FS=4.845;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.50;ReadPosRankSum=0.853;SOR=1.320	GT:AD:DP:GQ:PL	0/1:41,31:72:99:770,0,943	20	0	1	0
chr8	26748611	26748611	G	A	exonic	ADRA1A	.	stopgain	ADRA1A:NM_001322503:exon2:c.C1021T:p.R341X,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.37	T	.	.	.	.	0.635	U	0.999	N	.	.	.	.	.	.	.	.	.	3.732	18.95	0.046	0.132	0.447	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs868130110	7.046e-05	5.725e-05	6.97e-05	7.102e-05	0.0031	4.601e-05	3.743e-05	0.0008	0.0004	0	0.0002	0	0	0	0.0031	4.829e-05	0.0002	5.55e-05	0.0001	0.0001	0.0001	0.0001	0.0003	7.61e-05	6.309e-05	0.0001	8.349e-05	2.417e-05	0	0.0003	0	0	0	0.0068	0.0001	0.0005	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02941	154.21	2	chr8	26748611	.	G	A	154.21	.	AC=1;AF=0.029;AN=34;BaseQRankSum=-1.480e+00;DP=56;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.1232;MLEAC=1;MLEAF=0.029;MQ=60.00;MQRankSum=0.00;QD=17.13;ReadPosRankSum=0.862;SOR=0.941	GT:AD:DP:GQ:PL	0/1:2,7:9:46:165,0,46	16	0	1	4
chr8	26770378	26770378	G	A	exonic	ADRA1A	.	nonsynonymous SNV	ADRA1A:NM_033302:exon2:c.C1172T:p.T391M	.	.	421	1100	1	0	0	1	0.000454339	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.968	D	0.502	P	0.334	N	1.000	D	1.61	L	2.02	T	-0.575	T	0.257	T	0.311	2.627	14.75	5.06	1.445	4.852	16.215	0.097	0.0523066362056	0.0003	0.000599042	0.0002	0.0007	8.637e-05	0.0005	0	0.0001	0	6.056e-05	0.0001746	27	154602	rs151273238	0.0002	0.0002	0.0002	0.0001	0.0021	0.0001	0.0001	0.0018	0.0016	0.0005	0.0002	0	0.0021	0	0.0010	6.655e-05	0.0004	5.797e-05	0.0001	0.0001	8.993e-05	0.0001	0.0004	7.086e-05	5.743e-05	7.869e-05	5.573e-05	0.0002	0	6.533e-05	0	0.0004	0	0	0.0001	0	0	0.001	0.78490	D	0.022	0.69154	D	0.851	0.54400	P	0.332	0.47702	B	0.333955	0.14069	N	0.667620	1	0.81001	D	0.55	0.14455	N	2.02	0.62762	T	-1.41	0.34795	N	0.298	0.35727	-0.5750	0.65816	T	0.257	0.62789	T	10	0.09308192	0.16443	T	0.052307	0.65017	D	0.097	0.27909	.	.	0.856113102952	0.85472	0.20987513720425913	0.20903	0.742283583276	0.63323	0.621821403503	0.55986	T	0.056952	0.30431	T	-0.291251	0.09510	T	-0.313407	0.43293	T	0.0459600859151169	0.04777	T	0.935206	0.75689	D	0.12424568	0.29157	0.17448694	0.39848	0.12424568	0.29157	0.17448694	0.39848	-4.297	0.28664	T	.	.	0.120	0.24700	B	.;.;.;.;.;.	.;.;.;.;.;.	3.995005	0.58824	24.0	0.99501777912071232	0.68089	0.96657	0.70249	D	AEFBI	0.721531	0.67175	D	0.344709949088622	0.58461	4.018451	0.401830225271455	0.61679	4.371433	0.433656414874315	0.20394	0.487112	0.14033	0	0.563428	0.19063	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.96	5.06	0.67838	5.182000	0.64897	8.587000	0.77670	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.940000	0.48062	0.0:0.0:0.8577:0.1423	16.215	0.82018	849	0.35778	.;.;.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2138.98	35	chr8	26770378	.	G	A	2138.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.57;DP=996;ExcessHet=0.0000;FS=1.150;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.62;ReadPosRankSum=-5.510e-01;SOR=0.599	GT:AD:DP:GQ:PL	0/1:98,86:184:99:2153,0,2371	20	0	1	0
chr8	27518067	27518067	T	C	exonic	EPHX2	.	nonsynonymous SNV	EPHX2:NM_001256483:exon8:c.T742C:p.C248R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.998	D	0.987	D	0.000	D	1.000	D	1.865	L	3.83	T	-1.156	T	0.029	T	0.912	2.806	15.35	3.41	0.880	1.887	7.536	0.351	0.0111009924824	.	.	8.52e-06	0	0	0.0001	0	0	0	0	6.5e-06	1	154602	rs146084287	4.835e-06	4.788e-06	5.496e-06	4.167e-06	2.534e-05	2.01e-06	1.29e-06	8.5e-07	5.7e-07	0	0	3.873e-05	2.534e-05	0	0	3.612e-06	0	1.211e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.65419	D	0.014	0.69154	D	0.998	0.73220	D	0.987	0.77487	D	0.000006	0.62929	D	0.173944	1	0.81001	D	3.15	0.88382	M	3.83	0.03702	T	-7.9	0.96191	D	0.739	0.74098	-1.1563	0.00850	T	0.029	0.12409	T	10	0.94346493	0.93671	D	0.011101	0.28373	T	0.351	0.67234	0.857	0.95604	0.565865824572	0.56251	0.9555509566420908	0.95540	0.167373738251	0.18878	0.585405945778	0.50847	T	0.376532	0.73990	T	0.0729975	0.61212	D	0.0461514	0.73329	D	0.982576251029968	0.74574	D	0.762324	0.38756	T	0.98991334	0.99760	0.9653733	0.99249	0.98991334	0.99760	0.9653733	0.99250	-11.123	0.81378	D	.	.	0.909	0.85945	P	.;.;.;.;.	.;.;.;.;.	4.373544	0.67350	25.1	0.99719989567917433	0.81984	0.82043	0.41333	D	AEFBI	0.667744	0.63576	D	0.372574917059492	0.59941	4.177868	0.306272339373727	0.55906	3.753643	0.95738979957561	0.28300	0.706298	0.61202	0	0.670034	0.63936	0	0.709663	0.75317	0	0.586402	0.36253	0	.	.	4.59	3.41	0.38145	1.951000	0.39958	4.828000	0.45175	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.977000	0.56843	0.1905:0.0:0.0:0.8094	7.536	0.26881	758	0.50837	Alpha/beta hydrolase fold-1;Alpha/beta hydrolase fold-1;.;.;Alpha/beta hydrolase fold-1	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1107.98	34	chr8	27518067	.	T	C	1107.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-7.250e-01;DP=800;ExcessHet=0.0000;FS=0.749;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.08;ReadPosRankSum=-1.527e+00;SOR=0.705	GT:AD:DP:GQ:PL	0/1:50,50:100:99:1122,0,1191	20	0	1	0
chr8	33512474	33512474	A	T	exonic	TTI2	.	nonsynonymous SNV	TTI2:NM_025115:exon1:c.T140A:p.V47E	Mental retardation, autosomal recessive 39, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6	T	0.009	B	0.008	B	0.834	N	1.000	N	0	N	0.86	T	-1.006	T	0.069	T	0.185	1.333	10.37	-2.96	-0.358	-0.315	12.173	0.035	0.00724885718775	.	.	8.241e-06	0	0	0	0	1.499e-05	0	0	6.5e-06	1	154602	rs770638379	4.789e-06	4.789e-06	4.084e-06	5.5e-06	6.295e-06	1.99e-06	1.28e-06	2.62e-06	1.68e-06	0	0	0	0	0	0	6.295e-06	0	0	1.315e-05	1.313e-05	1.285e-05	1.346e-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	0.122	0.53900	T	0.313	0.51112	T	0.003	0.11197	B	0.003	0.08700	B	0.833538	0.09087	N	0.905352	1	0.08975	N	0	0.06538	N	0.58	0.54149	T	-0.25	0.42001	N	0.149	0.18649	-1.0062	0.28095	T	0.069	0.28346	T	10	0.05335453	0.05513	T	0.007249	0.19225	T	0.035	0.08770	0.36	0.36385	0.0297737177859	0.01360	0.19822833989105404	0.19739	0.230916815466	0.25639	0.392930746078	0.24082	T	0.003388	0.36406	T	-0.236106	0.15849	T	-0.561441	0.16242	T	0.060049287929946	0.07177	T	0.448055	0.12582	T	0.06845058	0.14913	0.10467557	0.25145	0.06845058	0.14913	0.10467557	0.25144	-2.504	0.05808	T	0.07958464414114258	0.03931	0.094	0.27343	B	.;.;.;.;.	.;.;.;.;.	0.058590	0.04700	1.340	0.41764110565520696	0.03034	0.03003	0.07868	N	AEFDGBCIJ	0.049588	0.08583	N	-1.82840700314169	0.00479	0.02063185	-1.82253671196033	0.00690	0.03070662	0.999995686162284	0.74766	0.627647	0.40530	0	0.685571	0.66316	0	0.672317	0.60874	0	0.657601	0.63696	0	.	.	4.53	-2.96	0.05212	-0.309000	0.08185	0.531000	0.19249	-1.911000	0.00515	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0834:0.6573:0.2593:0.0	12.173	0.53476	862	0.33134	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	2993.98	168	chr8	33512474	.	A	T	2993.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.38;DP=2880;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.82;ReadPosRankSum=1.39;SOR=0.676	GT:AD:DP:GQ:PL	0/1:90,112:202:99:3008,0,2307	20	0	1	0
chr8	37831553	37831553	G	A	exonic	ADGRA2	.	nonsynonymous SNV	ADGRA2:NM_032777:exon8:c.G1063A:p.A355T,	.	.	426	1076	19	1	0	21	0.00966406	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.29	T	0.993	D	0.784	P	0.000	D	0.990	D	1.355	L	0.59	T	-0.883	T	0.157	T	0.289	2.221	13.38	5.22	2.458	7.714	15.227	0.215	.	0.0052	0.00419329	0.0053	0.0016	0.0017	0.0002	0.0055	0.0047	0.0022	0.0155	0.0052069	805	154602	rs148701575	0.0062	0.0062	0.0060	0.0064	0.0150	0.0061	0.0061	0.0144	0.0141	0.0013	0.0017	0.0006	7.557e-05	0.0041	0.0054	0.0064	0.0053	0.0150	0.0039	0.0039	0.0040	0.0038	0.0141	0.0036	0.0035	0.0114	0.0104	0.0010	0	0.0023	0.0006	0.0002	0.0052	0	0.0057	0.0009	0.0141	0.049	0.39820	D	0.155	0.31936	T	0.993	0.65571	D	0.784	0.57456	P	0.000158	0.49130	D	0.136731	0.901768	0.41096	D	.	.	.	0.59	0.53943	T	-1.33	0.33197	N	0.58	0.66016	-0.8833	0.49497	T	0.157	0.48959	T	10	0.009638995	0.00217	T	.	.	.	0.215	0.50805	.	.	0.420939154896	0.41709	0.6182339843626599	0.61756	0.352897923945	0.37108	0.522005915642	0.41908	T	0.183341	0.53565	T	-0.42039	0.01700	T	-0.364313	0.37552	T	0.0362762037669932	0.03028	T	0.80112	0.75644	T	0.040327933	0.05735	0.07922838	0.17819	0.040327933	0.05735	0.07922838	0.17818	-7.261	0.55918	T	.	.	0.107	0.27161	B	.;.	.;.	3.340449	0.46023	22.2	0.99361598056235911	0.61029	0.92308	0.55412	D	AEFDGBHCI	0.899131	0.84318	D	0.29915241187772	0.56106	3.774881	0.301946978156592	0.55653	3.72825	0.999999999897871	0.74766	0.706548	0.73137	0	0.588066	0.40923	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	5.22	5.22	0.72285	6.638000	0.74166	9.763000	0.81520	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.072000	0.16771	0.0:0.1409:0.8591:0.0	15.227	0.73048	783	0.47268	.;GPCR, family 2, extracellular hormone receptor domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	2263.11	39	chr8	37831553	.	G	A	2263.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-4.460e-01;DP=885;ExcessHet=0.1072;FS=1.118;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=11.37;ReadPosRankSum=0.921;SOR=0.598	GT:AD:DP:GQ:PL	0/1:56,43:99:99:1069,0,1497	19	0	2	0
chr8	41932602	41932602	T	C	exonic	KAT6A	.	nonsynonymous SNV	KAT6A:NM_006766:exon17:c.A5618G:p.Q1873R,	Mental retardation, autosomal dominant 32, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.682	P	0.188	B	0.001	D	1.000	D	0.975	L	-0.47	T	-0.584	T	0.231	T	0.704	1.392	10.59	5.67	2.148	5.965	15.913	0.344	0.0441549640128	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.001	0.83351	D	0.682	0.41464	P	0.188	0.36237	B	0.000663	0.42516	D	0.164111	0.999925	0.51308	D	1.545	0.39105	L	-0.47	0.70133	T	-3.17	0.64363	D	0.501	0.57433	-0.5838	0.65467	T	0.231	0.59645	T	10	0.36941233	0.53357	T	0.044155	0.61348	D	0.344	0.66582	0.208	0.12497	0.720395859475	0.71793	0.6306809889464589	0.63002	0.201892751584	0.22604	0.778806686401	0.78748	T	0.580512	0.86256	D	0.145277	0.68825	D	-0.0290958	0.68428	D	0.807511568069458	0.46873	D	0.934407	0.75457	D	0.5424957	0.69536	0.65221953	0.79647	0.5424957	0.69537	0.65221953	0.79648	-6.078	0.46927	T	.	.	0.493	0.75504	A	.;.;.	.;.;.	3.758230	0.53913	23.4	0.94272073733103268	0.24560	0.96467	0.69283	D	AEFBCI	0.743345	0.68668	D	0.287929583673101	0.55535	3.717644	0.412865173661773	0.62366	4.450762	0.999999998856202	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.697927	0.64325	0	0.714379	0.83352	0	.	.	5.67	5.67	0.87673	5.136000	0.64623	6.214000	0.55048	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.988000	0.63387	0.0:0.0:0.0:1.0	15.913	0.79274	495	0.76383	.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1903.98	33	chr8	41932602	.	T	C	1903.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.382e+00;DP=868;ExcessHet=0.0000;FS=2.825;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.53;ReadPosRankSum=0.555;SOR=0.768	GT:AD:DP:GQ:PL	0/1:77,75:152:99:1918,0,2252	20	0	1	0
chr8	98130133	98130133	G	A	exonic	POP1	.	nonsynonymous SNV	POP1:NM_001145860:exon5:c.G642A:p.M214I	Anauxetic dysplasia 2, Autosomal recessive	.	409	1109	4	0	0	4	0.00180018	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.975	D	0.951	D	0.000	D	1.000	D	2.565	M	0.27	T	-0.262	T	0.410	T	0.836	5.263	33	5.81	2.746	9.756	17.879	0.519	0.0383313824867	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.104e-06	4.104e-06	2.722e-06	5.5e-06	0.0002	1.48e-06	9.7e-07	1.32e-06	9.6e-07	0	0	0	0	0	0.0002	4.496e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.007	0.69154	D	0.975	0.58077	D	0.951	0.68939	D	0.000002	0.62929	D	0.053946	1	0.81001	D	2.915	0.84231	M	0.27	0.59176	T	-3.22	0.64939	D	0.92	0.92317	-0.2624	0.76022	T	0.410	0.75860	T	9	0.9536054	0.94708	D	0.038331	0.58156	D	0.519	0.79522	0.831	0.94042	0.730838485179	0.72844	0.832843327794715	0.83243	0.787039329555	0.65579	0.720499634743	0.70119	T	0.306345	0.67856	T	0.272022	0.80621	D	0.152965	0.80372	D	0.990122139453888	0.80339	D	0.938006	0.76748	D	0.7598254	0.81442	0.8057761	0.88633	0.7598254	0.81444	0.8057761	0.88633	-11.469	0.82168	D	.	.	0.699	0.73759	P	.;.	.;.	5.044327	0.83977	28.2	0.99776362867556223	0.86346	0.97622	0.75966	D	AEFBHCI	0.878104	0.80315	D	0.899679618636342	0.91743	11.04133	0.892362448265697	0.95230	13.42945	0.999999999999676	0.74766	0.743674	0.98306	0	0.724815	0.89359	0	0.630245	0.45026	0	0.635551	0.53088	0	.	.	5.81	5.81	0.92413	9.889000	0.98569	11.744000	0.95258	0.614000	0.49286	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	17.879	0.88750	902	0.24074	Pop1, N-terminal;Pop1, N-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1693.98	34	chr8	98130133	.	G	A	1693.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.440e-01;DP=831;ExcessHet=0.0000;FS=3.187;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.13;ReadPosRankSum=-6.480e-01;SOR=0.559	GT:AD:DP:GQ:PL	0/1:59,70:129:99:1708,0,1414	20	0	1	0
chr8	99832387	99832387	A	G	exonic	VPS13B	.	nonsynonymous SNV	VPS13B:NM_017890:exon52:c.A9424G:p.S3142G	Cohen syndrome, Autosomal recessive	.	72	1369	76	5	0	86	0.0304533	.	.	101771	not_provided|Cohen_syndrome|not_specified|Inborn_genetic_diseases	MedGen:C3661900|MONDO:MONDO:0008999,MedGen:C0265223,OMIM:216550,Orphanet:193|MedGen:CN169374|MeSH:D030342,MedGen:C0950123	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.06	T	0.111	B	0.041	B	0.000	N	1.000	D	0.9	L	-0.5	T	-0.852	T	0.159	T	0.367	1.539	11.10	4.4	0.946	2.755	11.151	0.093	.	0.0043	0.00579073	0.0190	0.0017	0.0085	0	0.0162	0.0169	0.0288	0.0305	0.0056726	877	154602	rs113671330	0.0077	0.0072	0.0070	0.0085	0.0320	0.0076	0.0076	0.0276	0.0259	0.0017	0.0025	0.0206	6.41e-05	0.0038	0.0320	0.0067	0.0088	0.0259	0.0069	0.0066	0.0063	0.0076	0.0257	0.0065	0.0063	0.0215	0.0199	0.0012	0	0.0031	0.0255	0.0003	0.0064	0.0303	0.0084	0.0096	0.0257	0.293	0.15561	T	0.232	0.24987	T	0.111	0.26235	B	0.041	0.23986	B	0.000053	0.53742	N	0.157724	0.957555	0.81001	D	0.995	0.25082	L	-0.5	0.70597	T	-1.9	0.44284	N	0.276	0.33687	-0.8517	0.51850	T	0.159	0.49296	T	10	0.0035758317	0.00065	T	.	.	.	0.093	0.26882	.	.	0.653813299475	0.65093	0.2101324214411371	0.20929	0.158005701542	0.17844	0.340887725353	0.16572	T	0.11923	0.44060	T	-0.369077	0.03641	T	-0.280618	0.46741	T	0.0234115201300916	0.01073	T	0.616038	0.23564	T	0.15742865	0.35473	0.14939047	0.35274	0.17221728	0.37900	0.14939047	0.35273	-2.926	0.09406	T	0.7913050563428241	0.86969	0.077	0.06387	B	.;.	.;.	2.110446	0.26858	17.26	0.9592728960765865	0.28206	0.94451	0.61208	D	AEFBI	0.198077	0.32496	N	-0.180351885292511	0.33954	1.932295	-0.0107343764997269	0.39228	2.322809	0.852320626362985	0.25068	0.615465	0.37627	0	0.596877	0.49441	0	0.658983	0.55881	0	0.655142	0.61905	0	.	.	5.55	4.4	0.52402	2.811000	0.47685	2.651000	0.33816	0.756000	0.94297	1.000000	0.71638	0.999000	0.35428	0.992000	0.67800	0.9283:0.0:0.0717:0.0	11.151	0.47683	473	0.77910	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.02381	1793.98	40	chr8	99832387	.	A	G	1793.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.263e+00;DP=1496;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.57;ReadPosRankSum=-1.362e+00;SOR=0.738	GT:AD:DP:GQ:PL	0/1:80,75:155:99:1808,0,2165	20	0	1	0
chr8	100052975	100052975	C	T	exonic	RGS22	.	nonsynonymous SNV	RGS22:NM_001286693:exon8:c.G973A:p.A325T	.	.	426	1095	1	0	0	1	0.000456413	0.9669	0.824	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06	T	0.989	D	0.836	P	0.008	N	0.961	D	1.935	M	-0.01	T	-0.255	T	0.373	T	0.282	4.917	28.4	5.13	2.532	5.088	18.953	0.144	0.146217585109	.	.	8.289e-06	0	0	0	0	1.5e-05	0	0	3.84e-05	1	26028	rs762970151	2.739e-06	2.736e-06	4.087e-06	1.376e-06	0.0003	6.4e-07	4.3e-07	6.094e-05	2.522e-05	0	0	0	0	0	0.0003	1.8e-06	0	0	6.58e-06	6.568e-06	0	1.347e-05	.	0	0	.	.	0	0	0	0	0	9.454e-05	0	0	0	0	0.038	0.42783	D	0.023	0.59732	D	0.958	0.62824	D	0.613	0.59919	P	0.007899	0.31137	N	0.299613	0.960736	0.38196	D	2.2	0.62015	M	-0.01	0.62762	T	-1.8	0.44284	N	0.451	0.49328	-0.2546	0.76235	T	0.373	0.73152	T	10	0.46271083	0.59382	T	0.146218	0.82835	D	0.144	0.38394	0.343	0.33626	0.808025766547	0.80622	0.23353538562325485	0.23268	0.277734155041	0.30255	0.469844311476	0.34658	T	0.021354	0.29375	T	-0.0714225	0.41097	T	-0.34037	0.40303	T	0.92471045255661	0.58602	D	0.865613	0.56501	D	0.21932322	0.44462	0.21565525	0.46163	0.21932322	0.44462	0.21565525	0.46162	-8.583	0.64977	D	.	.	0.527	0.69840	A	.;.;.;.	.;.;.;.	4.971035	0.82265	27.7	0.9988317636233397	0.95892	0.94092	0.60088	D	AEFGI	0.702267	0.65869	D	0.61400081065182	0.74060	6.06888	0.620929162164556	0.76461	6.495417	0.952042116400554	0.27992	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.13	5.13	0.69729	5.192000	0.64953	7.612000	0.61951	0.594000	0.32500	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:1.0:0.0:0.0	18.953	0.92624	0	0.99858	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	682.98	33	chr8	100052975	.	C	T	682.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.92;DP=755;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.65;ReadPosRankSum=0.555;SOR=0.861	GT:AD:DP:GQ:PL	0/1:29,25:54:99:697,0,752	20	0	1	0
chr8	102560795	102560803	AGCCCCTGC	0	exonic	ODF1	.	.	.	.	.	430	603	23	0	466	489	0.0187144	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.225	1772.07	37	chr8	102560795	.	AGCCCCTGC	A,*	1772.07	.	AC=1,8;AF=0.025,0.200;AN=40;BaseQRankSum=-7.460e-01;DP=2088;ExcessHet=5.0238;FS=4.266;InbreedingCoeff=-0.2250;MLEAC=1,8;MLEAF=0.025,0.200;MQ=60.00;MQRankSum=0.00;QD=1.43;ReadPosRankSum=1.05;SOR=1.000	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:98,0,60:158:99:1|0:102560764_C_G:2631,2744,6834,0,4056,3834:102560764	11	0	1	1
chr8	102560798	102560798	C	0	exonic	ODF1	.	.	.	.	.	436	601	16	0	469	485	0.0131363	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2632	2579.11	37	chr8	102560798	.	C	A,*	2579.11	.	AC=2,8;AF=0.053,0.211;AN=38;BaseQRankSum=0.124;DP=2095;ExcessHet=6.5132;FS=3.341;InbreedingCoeff=-0.2972;MLEAC=2,9;MLEAF=0.053,0.237;MQ=60.00;MQRankSum=0.00;QD=1.88;ReadPosRankSum=-3.220e-01;SOR=0.968	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:98,0,60:158:99:1|0:102560764_C_G:2631,2744,6834,0,4056,3834:102560764	9	0	2	2
chr8	102560804	102560814	AACCCGTGCAG	0	exonic	ODF1	.	.	.	.	.	433	610	23	0	456	479	0.0185036	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.225	1772.07	37	chr8	102560804	.	AACCCGTGCAG	A,*	1772.07	.	AC=1,8;AF=0.025,0.200;AN=40;BaseQRankSum=-9.630e-01;DP=1919;ExcessHet=5.0238;FS=4.266;InbreedingCoeff=-0.2250;MLEAC=1,8;MLEAF=0.025,0.200;MQ=60.00;MQRankSum=0.00;QD=1.43;ReadPosRankSum=0.936;SOR=0.994	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:98,0,60:158:99:1|0:102560764_C_G:2631,2744,6834,0,4056,3834:102560764	11	0	1	1
chr8	112636849	112636849	C	T	exonic	CSMD3	.	nonsynonymous SNV	CSMD3:NM_001363185:exon20:c.G3293A:p.R1098Q	.	.	422	1089	10	1	0	12	0.00547945	.	.	711241	CSMD3-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.63	T	1.0	D	0.999	D	0.000	D	1.000	D	2.965	M	-0.1	T	-0.134	T	0.404	T	0.76	4.754	26.6	5.74	2.712	7.818	19.940	0.433	0.0200103479327	0.0053	0.00159744	0.0040	0.0012	0.0015	0	0.0006	0.0055	0.0044	0.0051	0.0040556	627	154602	rs61753739	0.0061	0.0061	0.0061	0.0061	0.0071	0.0060	0.0060	0.0070	0.0069	0.0008	0.0019	0.0003	5.039e-05	0.0015	0.0050	0.0071	0.0058	0.0056	0.0037	0.0037	0.0042	0.0032	0.0065	0.0035	0.0034	0.0060	0.0058	0.0010	0	0.0025	0	0	0.0011	0.0034	0.0065	0.0024	0.0047	0.031	0.45039	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.000010	0.62929	D	0.000000	0.999903	0.50806	D	1.385	0.34509	L	-0.1	0.64264	T	-3.02	0.63438	D	0.826	0.86085	-0.1335	0.79319	T	0.404	0.75466	T	10	0.011292219	0.00248	T	0.02001	0.42512	T	0.433	0.73879	.	.	0.687313261705	0.68463	0.6205871236476121	0.61991	0.712733288264	0.61781	0.69555413723	0.66502	T	0.173041	0.52176	T	-0.187416	0.22639	T	-0.0371411	0.67894	D	0.021361121719949	0.00839	T	0.972803	0.90184	D	0.32971403	0.55448	0.2626052	0.52054	0.32971403	0.55448	0.2626052	0.52053	-15.042	0.96498	D	.	.	0.179	0.38977	B	.;.;.;.	.;.;.;.	5.126712	0.85775	28.7	0.99946799314921497	0.99913	0.94439	0.61170	D	AEFGHCI	0.891316	0.82717	D	0.822414795391583	0.87485	9.234901	0.802546738686116	0.89971	10.19942	0.999992503873008	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.74	5.74	0.90070	7.905000	0.86479	5.933000	0.51351	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:1.0:0.0:0.0	19.940	0.97160	822	0.40702	.;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	0.02381	741.98	36	chr8	112636849	.	C	T	741.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.920e-01;DP=835;ExcessHet=0.0000;FS=0.836;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.15;ReadPosRankSum=2.90;SOR=0.821	GT:AD:DP:GQ:PL	0/1:56,35:91:99:756,0,1456	20	0	1	0
chr8	120203803	120203803	C	A	exonic	COL14A1	.	nonsynonymous SNV	COL14A1:NM_001384947:exon9:c.C972A:p.H324Q	.	.	9	1512	1	0	0	1	0.000330579	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.39	T	0.175	B	0.16	B	0.002	N	0.734	D	-0.105	N	0.66	T	-0.480	T	0.295	T	0.202	1.764	11.86	5.21	2.708	0.555	12.688	0.028	0.0422781100104	.	.	8.263e-06	0	0	0	0	0	0	6.092e-05	3.84e-05	1	26028	rs758850925	5.473e-06	5.472e-06	5.446e-06	5.501e-06	0.0002	2.35e-06	1.7e-06	2.194e-05	1.43e-05	0	0	0	0	0	0.0002	1.799e-06	0	5.797e-05	1.315e-05	1.313e-05	1.285e-05	1.346e-05	0.0002	2.18e-06	8.2e-07	.	.	0	0	0	0	0	0	0	1.47e-05	0	0.0002	0.213	0.19430	T	0.326	0.27591	T	0.034	0.28858	B	0.088	0.34752	B	0.002405	0.36612	N	0.313934	0.734269	0.33752	D	-0.345	0.03330	N	-1.01	0.81815	T	-0.91	0.24460	N	0.35	0.39254	-0.4801	0.69362	T	0.295	0.66669	T	10	0.17728603	0.32755	T	0.042278	0.60377	D	0.075	0.21907	0.402	0.43245	0.737417931293	0.73507	0.4512991635225788	0.45047	0.575747071207	0.53560	0.72091293335	0.70179	T	0.115696	0.43448	T	-0.221167	0.17834	T	-0.351868	0.38991	T	0.656716346740723	0.38752	D	0.714229	0.32652	T	0.08060224	0.18479	0.064152315	0.12816	0.08060224	0.18478	0.064152315	0.12816	-3.977	0.23458	T	.	.	0.147	0.39782	B	.;.;.;.	.;.;.;.	2.043883	0.25978	16.96	0.93680332530163191	0.23581	0.94330	0.60822	D	AEFBI	0.582023	0.58181	D	-0.215661615209092	0.32490	1.832914	0.00029571514469276	0.39730	2.36017	0.630882250398412	0.21967	0.693126	0.56070	0	0.573888	0.26702	0	0.659464	0.59346	0	0.564101	0.26826	0	.	.	5.21	5.21	0.72005	0.256000	0.18120	1.096000	0.24025	0.581000	0.30040	0.435000	0.26448	1.000000	0.68203	0.854000	0.40426	0.0:0.9146:0.0:0.0854	12.688	0.56329	834	0.38640	von Willebrand factor, type A|von Willebrand factor, type A|von Willebrand factor, type A;.;von Willebrand factor, type A|von Willebrand factor, type A|von Willebrand factor, type A;von Willebrand factor, type A|von Willebrand factor, type A|von Willebrand factor, type A	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1040.98	43	chr8	120203803	.	C	A	1040.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.043;DP=852;ExcessHet=0.0000;FS=1.611;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.11;ReadPosRankSum=1.50;SOR=0.898	GT:AD:DP:GQ:PL	0/1:59,44:103:99:1055,0,1498	20	0	1	0
chr8	125182283	125182283	C	T	exonic	NSMCE2	.	nonsynonymous SNV	NSMCE2:NM_001349487:exon5:c.C445T:p.R149W,	Seckel syndrome 10, Autosomal recessive	.	446	1056	20	0	0	20	0.00938086	.	.	1687667	not_provided|NSMCE2-related_disorder	MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0060	0.00479233	0.0077	0.0014	0.0075	0.0002	0.0139	0.0104	0.0122	0.0018	0.007115	1100	154602	rs146237502	0.0072	0.0073	0.0073	0.0071	0.0166	0.0071	0.0070	0.0139	0.0129	0.0008	0.0063	0.0017	0.0001	0.0153	0.0166	0.0078	0.0065	0.0018	0.0068	0.0068	0.0071	0.0065	0.0091	0.0065	0.0063	0.0085	0.0082	0.0014	0.0844	0.0065	0.0009	0.0002	0.0147	0.0170	0.0091	0.0076	0.0008	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.999998	0.58761	D	.	.	.	.	.	.	.	.	.	0.185	0.20129	.	.	.	.	.	.	.	0.003978282	0.00077	T	.	.	.	.	.	.	.	0.616972202741	0.61387	.	.	.	.	.	.	.	0.028314	0.20539	T	-0.622412	0.00106	T	-0.651891	0.08822	T	.	.	.	0.441356	0.12220	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.129	0.27642	B	.;.	.;.	1.589382	0.20330	14.70	0.44958867091869503	0.03494	0.00576	0.02603	N	AEFDGBHI	.	.	.	.	.	.	.	.	.	0.99990377183353	0.45458	0.162113	0.03585	0	0.18701	0.04157	0	0.083675	0.02720	0	0.24566	0.04862	0	0.300578	0.34784	4.69	-1.9	0.07248	0.194000	0.16941	0.132000	0.15059	-1.164000	0.01408	0.958000	0.33488	0.356000	0.24496	0.986000	0.61781	0.0:0.385:0.1741:0.441	4.918	0.13208	840	0.37365	.;.	RP11-158K1.3	Pancreas	.	.	.	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	0.02381	594.98	36	chr8	125182283	.	C	T	594.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.69;DP=756;ExcessHet=0.0000;FS=1.080;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.62;ReadPosRankSum=-6.430e-01;SOR=0.990	GT:AD:DP:GQ:PL	0/1:31,25:56:99:609,0,689	20	0	1	0
chr8	143429787	143429789	TGG	-	exonic	MAFA	.	nonframeshift deletion	MAFA:NM_201589:exon1:c.618_620del:p.H208del,	.	.	264	254	1	13	990	1017	0.0504673	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.9048	51136.5	54	chr8	143429783	.	ATGGTGG	ATGG,A	51136.5	.	AC=38,4;AF=0.905,0.095;AN=42;BaseQRankSum=1.21;DP=1755;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=NaN;MLEAC=38,4;MLEAF=0.905,0.095;MQ=60.00;MQRankSum=0.00;QD=34.47;ReadPosRankSum=0.693;SOR=0.738	GT:AD:DP:GQ:PL	1/1:0,50,0:50:99:2221,151,0,2221,151,2221	0	17	0	0
chr8	144260696	144260696	C	T	exonic	MROH1	.	nonsynonymous SNV	MROH1:NM_001288814:exon38:c.C4373T:p.T1458M	.	.	414	1107	1	0	0	1	0.000451467	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.26	T	0.955	P	0.276	B	0.849	N	1.000	N	0.69	N	0.91	T	-1.070	T	0.059	T	0.14	0.807	8.244	1.99	0.120	0.101	5.386	0.171	0.0620161544513	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1439689990	1.435e-05	1.908e-05	3.504e-06	2.341e-05	2.287e-05	6.75e-06	4.89e-06	1.083e-05	8.1e-06	0	0	0	0	1.923e-05	0	2.287e-05	0	0	2.627e-05	2.626e-05	1.284e-05	4.033e-05	0.0002	8.14e-06	5.14e-06	1.918e-05	1.032e-05	7.234e-05	0	0	0	0.0002	0	0	0	0	0	0.016	0.52492	D	0.025	0.66756	D	0.925	0.54515	P	0.142	0.40142	B	0.849261	0.08975	N	0.928712	1	0.08975	N	1.39	0.34934	L	0.91	0.44856	T	-1.03	0.39692	N	0.146	0.20793	-1.0700	0.09413	T	0.059	0.24723	T	10	0.13452551	0.25602	T	0.062016	0.68517	D	0.171	0.43483	0.542	0.65446	0.043077524339	0.03247	0.2556528650513262	0.25479	0.421239601649	0.42633	0.470488220453	0.34747	T	0.012895	0.11252	T	-0.263843	0.12454	T	-0.616769	0.11440	T	0.18537013791614	0.19568	T	0.574643	0.20620	T	0.014990115	0.00117	0.026074946	0.00678	0.014990115	0.00117	0.026074946	0.00678	-4.233	0.28858	T	.	.	0.075	0.06710	B	.;.;.;.	.;.;.;.	1.361847	0.17710	13.32	0.99609880902294945	0.74753	0.05017	0.10797	N	AEFGI	0.084896	0.17208	N	-0.644956526043051	0.17607	0.9074603	-0.754248348993852	0.15618	0.822301	5.10338610534625E-5	0.03989	0.638212	0.43195	0	0.670034	0.63936	0	0.653264	0.51672	0	0.668105	0.65232	0	.	.	3.94	1.99	0.25423	-0.623000	0.05643	1.600000	0.27578	-0.190000	0.09434	0.000000	0.06391	0.009000	0.19889	0.001000	0.02609	0.3061:0.3155:0.3784:0.0	5.386	0.15518	940	0.13648	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	981.98	37	chr8	144260696	.	C	T	981.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.142;DP=816;ExcessHet=0.0000;FS=1.850;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.59;ReadPosRankSum=-1.750e-01;SOR=0.502	GT:AD:DP:GQ:PL	0/1:38,40:78:99:996,0,955	20	0	1	0
chr8	144415265	144415265	A	G	exonic	SLC39A4	.	nonsynonymous SNV	SLC39A4:NM_001374839:exon2:c.T347C:p.F116S	Acrodermatitis enteropathica, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.999	D	0.941	D	0.015	N	0.702	D	2.045	M	0.52	T	-0.208	T	0.291	T	0.703	3.258	16.93	5.3	2.031	2.261	11.672	0.280	0.849960203712	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.001	0.83351	D	0.999	0.77913	D	0.941	0.67658	D	0.014829	0.28418	N	0.363928	0.702214	0.33433	D	1.7	0.43825	L	0.52	0.55266	T	-6.3	0.90976	D	0.751	0.81658	-0.2078	0.77471	T	0.291	0.66249	T	10	0.893324	0.88680	D	0.84996	0.98843	D	0.280	0.59740	0.821	0.93395	0.67630082121	0.67355	0.8765522331343594	0.87622	0.688017825404	0.60412	0.757491767406	0.75557	T	0.592538	0.86822	D	0.0672872	0.60517	T	-0.141123	0.60021	T	0.965054512023926	0.67148	D	0.70423	0.31438	T	0.13226381	0.30803	0.2513995	0.50750	0.13226381	0.30803	0.2513995	0.50749	-9.309	0.69663	D	0.8870620821850869	0.94298	0.911	0.88761	P	.;.;.	.;.;.	3.974462	0.58384	24.0	0.99848876383869933	0.92838	0.42776	0.26953	N	AEFDBHCI	0.158032	0.28364	N	0.178266199014097	0.50157	3.20841	0.130553270547176	0.46120	2.863211	0.999999995887992	0.74766	0.580535	0.33130	0	0.547309	0.14657	0	0.576033	0.28219	0	0.562822	0.20929	0	.	.	5.3	5.3	0.74745	1.651000	0.36918	10.949000	0.84388	0.735000	0.85950	0.794000	0.29644	1.000000	0.68203	0.716000	0.34643	1.0:0.0:0.0:0.0	11.672	0.50670	946	0.12043	.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2791.98	38	chr8	144415265	.	A	G	2791.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-8.250e-01;DP=984;ExcessHet=0.0000;FS=2.920;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.03;ReadPosRankSum=0.316;SOR=0.519	GT:AD:DP:GQ:PL	0/1:121,111:232:99:2806,0,3116	20	0	1	0
chr8	144524560	144524560	T	G	exonic	LRRC24	.	nonsynonymous SNV	LRRC24:NM_001024678:exon3:c.A319C:p.S107R,	.	.	444	1073	5	0	0	5	0.0023245	.	.	2343239	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.25	T	0.0	B	0.0	B	0.002	N	0.977	N	0.855	L	0.39	T	-1.053	T	0.087	T	0.135	1.918	12.37	1.55	0.518	0.016	5.812	0.062	0.0224828862843	.	0.000199681	0.0003	0	0.0007	0	0	0.0005	0	0	0.0001552	24	154602	rs201975035	0.0002	0.0002	0.0002	0.0002	0.0058	0.0002	0.0002	0.0042	0.0036	0.0004	0.0005	0	0	0	0.0058	0.0002	0.0006	5.997e-05	0.0005	0.0005	0.0006	0.0004	0.0004	0.0004	0.0004	0.0003	0.0002	0	0.0384	0.0003	0	0	0	0.0308	0.0004	0.0014	0	0.093	0.31532	T	0.155	0.31936	T	0.0	0.02946	B	0.0	0.01387	B	0.001538	0.38731	N	0.248368	0.976769	0.39305	D	0.56	0.15190	N	0.39	0.57419	T	-0.51	0.15986	N	0.154	0.17553	-1.0528	0.13628	T	0.087	0.33718	T	10	0.0072493255	0.00165	T	0.022483	0.45373	T	0.062	0.17934	0.384	0.40298	0.0934897674506	0.08844	0.6218062595576144	0.62113	0.364172412179	0.38030	0.65098708868	0.60125	T	0.005167	0.04614	T	-0.449089	0.01144	T	-0.548712	0.17449	T	0.0144326281079404	0.00291	T	0.615438	0.27458	T	0.03618842	0.04403	0.053887825	0.09165	0.03618842	0.04402	0.053887825	0.09164	-4.756	0.34074	T	.	.	0.231	0.46424	B	.;.	.;.	1.283922	0.16839	12.80	0.97669223099568125	0.35247	0.19356	0.20629	N	AEFDBHCI	0.124992	0.24131	N	-0.951628655298544	0.09656	0.4579557	-0.916212760439125	0.11712	0.5983369	0.999999928758471	0.74766	0.77792	0.99625	0	0.516746	0.08562	0	0.854111	0.99894	0	0.599892	0.37169	0	.	.	4.54	1.55	0.22356	-0.095000	0.11043	0.305000	0.17021	-0.218000	0.08083	0.000000	0.06391	0.011000	0.20116	0.900000	0.43643	0.0:0.612:0.1757:0.2123	5.812	0.17734	884	0.28482	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	734.98	33	chr8	144524560	.	T	G	734.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.066e+00;DP=795;ExcessHet=0.0000;FS=4.124;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.70;ReadPosRankSum=0.684;SOR=0.283	GT:AD:DP:GQ:PL	0/1:20,30:50:99:749,0,543	20	0	1	0
chr9	117371	117371	C	0	exonic	FOXD4	.	.	.	.	.	494	340	430	130	128	818	0.50365	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5714	10566.34	45	chr9	117371	.	C	G,*	10566.34	.	AC=21,5;AF=0.500,0.119;AN=42;BaseQRankSum=1.69;DP=683;ExcessHet=1.5101;FS=0.547;InbreedingCoeff=-0.0096;MLEAC=21,5;MLEAF=0.500,0.119;MQ=45.38;MQRankSum=-4.449e+00;QD=18.70;ReadPosRankSum=-5.950e-01;SOR=0.750	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,16,0:16:48:.:.:588,48,0,588,48,588	3	5	9	0
chr9	14784400	14784400	C	T	exonic	FREM1	.	nonsynonymous SNV	FREM1:NM_001379081:exon24:c.G4412A:p.S1471N	Bifid nose with or without anorectal and renal anomalies;Manitoba oculotrichoanal syndrome, Autosomal recessive;Trigonocephaly 2, Autosomal dominant	.	0	1514	8	0	0	8	0.00263505	.	.	215396	Trigonocephaly_2|Oculotrichoanal_syndrome|BNAR_syndrome|not_specified|not_provided|Inborn_genetic_diseases	MONDO:MONDO:0013774,MedGen:C3280974,OMIM:614485,Orphanet:3366|MONDO:MONDO:0009560,MedGen:C1855425,OMIM:248450,Orphanet:2717|MONDO:MONDO:0012165,MedGen:C2750433,OMIM:608980,Orphanet:217266|MedGen:CN169374|MedGen:C3661900|MeSH:D030342,MedGen:C0950123	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.34	T	0.001	B	0.004	B	0.000	D	1.000	N	1.085	L	0.59	T	-1.033	T	0.114	T	0.016	0.349	5.892	5.53	2.758	2.993	11.387	0.100	0.00874680397119	0.0005	.	0.0003	0	0.0002	0	0	0.0004	0.0011	6.083e-05	0.0002199	34	154602	rs200650442	0.0002	0.0002	0.0002	0.0003	0.0113	0.0002	0.0002	0.0091	0.0083	8.962e-05	0.0002	0.0041	0	0	0.0113	9.895e-05	0.0010	0.0002	0.0002	0.0002	0.0002	0.0003	0.0003	0.0002	0.0002	0.0001	7.896e-05	0.0002	0	0.0003	0.0037	0	0	0	0.0002	0.0009	0	0.457	0.08813	T	0.861	0.03399	T	0.001	0.07471	B	0.004	0.10090	B	0.000178	0.48594	D	0.267804	0.919978	0.27316	N	2.005	0.54552	M	0.59	0.53943	T	-0.8	0.22078	N	0.221	0.32259	-1.0328	0.19554	T	0.114	0.40627	T	10	0.010758162	0.00238	T	0.008747	0.23099	T	0.100	0.28662	.	.	0.40146981186	0.39757	0.23616923367470719	0.23531	.	.	0.338232666254	0.16173	T	0.19352	0.54902	T	-0.482848	0.00712	T	-0.639205	0.09727	T	0.0248557894728998	0.01253	T	0.519848	0.16911	T	0.09641775	0.22709	0.10371094	0.24891	0.09641775	0.22709	0.10371094	0.24890	-5.646	0.43210	T	0.13696930988507727	0.15028	0.093	0.14979	B	.;.	.;.	1.271380	0.16702	12.71	0.38938383314295522	0.02657	0.60756	0.31287	D	AEFBHCI	0.321532	0.42430	N	-0.147996598848341	0.35321	2.027234	0.0249293538298909	0.40875	2.446496	0.99885196250801	0.37823	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.530356	0.10902	0	.	.	5.53	5.53	0.82530	3.020000	0.49326	4.907000	0.45915	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.754000	0.35928	0.1311:0.726:0.1429:0.0	11.387	0.49032	780	0.47616	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1652.98	40	chr9	14784400	.	C	T	1652.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.066;DP=818;ExcessHet=0.0000;FS=2.367;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.22;ReadPosRankSum=-8.340e-01;SOR=0.492	GT:AD:DP:GQ:PL	0/1:59,66:125:99:1667,0,1419	20	0	1	0
chr9	19346596	19346596	T	G	exonic	DENND4C	.	nonsynonymous SNV	DENND4C:NM_017925:exon22:c.T3680G:p.V1227G	.	.	431	1084	7	0	0	7	0.00321839	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.28	T	0.963	D	0.603	P	0.917	N	1.000	D	1.61	L	1.7	T	-1.156	T	0.087	T	0.752	2.601	14.66	4.68	1.035	2.169	11.551	0.142	0.0150813085479	0.0015	0.00299521	0.0014	0.0051	0.0009	0.0001	0	0.0014	0.0011	0.0006	0.0013907	215	154602	rs34267952	0.0009	0.0009	0.0009	0.0010	0.0045	0.0009	0.0009	0.0037	0.0035	0.0042	0.0006	0.0047	0	0	0.0045	0.0008	0.0015	0.0007	0.0022	0.0022	0.0020	0.0024	0.0049	0.0020	0.0019	0.0043	0.0041	0.0049	0.0066	0.0010	0.0075	0.0002	0	0.0034	0.0011	0.0019	0.0006	.	.	.	0.175	0.34359	T	.	.	.	.	.	.	0.917302	0.08511	N	0.964820	0.999992	0.81001	D	.	.	.	3.41	0.05574	T	.	.	.	0.239	0.26957	-1.1563	0.00850	T	0.087	0.33802	T	10	0.007730067	0.00175	T	0.015081	0.35602	T	.	.	.	.	0.367229591828	0.36328	0.5308378768336856	0.53007	0.04256783019	0.04588	0.287085205317	0.08499	T	0.025701	0.19163	T	-0.316632	0.07178	T	-0.226918	0.52069	T	0.0231665818017084	0.01043	T	0.550145	0.20372	T	0.1230204	0.28895	0.14525862	0.34457	0.1230204	0.28895	0.14525862	0.34456	-2.027	0.03284	T	.	.	0.284	0.51669	B	.;.;.	.;.;.	3.432991	0.47720	22.5	0.99236170915590027	0.56373	0.97622	0.75966	D	AEFBI	0.434729	0.49566	N	0.235373780766802	0.52921	3.463339	0.280837915191587	0.54422	3.607163	0.952485612769045	0.28019	0.706548	0.73137	0	0.724815	0.89359	0	0.608884	0.39905	0	0.714379	0.83352	0	.	.	5.81	4.68	0.58319	1.738000	0.37831	2.350000	0.32308	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0693:0.0:0.9307	11.551	0.49972	487	0.76954	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1998.98	33	chr9	19346596	.	T	G	1998.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.034e+00;DP=861;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.65;ReadPosRankSum=-1.973e+00;SOR=0.678	GT:AD:DP:GQ:PL	0/1:83,75:158:99:2013,0,2340	20	0	1	0
chr9	20413788	20413788	G	A	exonic	MLLT3	.	nonsynonymous SNV	MLLT3:NM_001286691:exon5:c.C1049T:p.P350L	.	.	.	.	.	.	.	.	.	.	.	2331965	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.06	T	0.546	P	0.042	B	0.000	D	1.000	D	1.79	L	.	.	-0.703	T	0.214	T	0.476	2.028	12.74	6.08	2.890	7.802	20.665	0.220	0.0072331871726	.	.	9.953e-05	0	0	0	0	6.011e-05	0	0.0005	7.76e-05	12	154602	rs771693368	9.784e-05	9.987e-05	9.667e-05	9.903e-05	0.0021	8.446e-05	7.923e-05	0.0012	0.0009	2.989e-05	0	0	0	1.873e-05	0.0021	5.756e-05	9.937e-05	0.0007	3.944e-05	3.941e-05	5.14e-05	2.691e-05	7.35e-05	1.716e-05	1.13e-05	2.846e-05	1.858e-05	2.413e-05	0	0	0	0	0	0	7.35e-05	0	0	0.0	0.91255	D	0.005	0.72224	D	0.546	0.38028	P	0.042	0.24114	B	0.000001	0.62929	D	0.099000	1	0.81001	D	1.955	0.52871	M	.	.	.	-3.22	0.64939	D	0.449	0.49965	-0.7027	0.60309	T	0.214	0.57507	T	9	0.14713082	0.27883	T	0.007233	0.19171	T	0.220	0.51569	0.222	0.14518	0.200294437569	0.19612	0.19695786556457262	0.19612	0.17529077387	0.19735	0.720418810844	0.70107	T	0.775428	0.94023	D	-0.178747	0.23922	T	-0.12227	0.61616	T	0.256037809598318	0.23141	T	0.884012	0.60664	D	0.43122643	0.62832	0.3942552	0.64124	0.43122643	0.62833	0.3942552	0.64124	-3.684	0.19333	T	.	.	0.076	0.37914	B	.;.	.;.	4.452828	0.69239	25.3	0.9938168669464934	0.61935	0.98303	0.81433	D	AEFGBI	0.778834	0.71122	D	0.265457891900794	0.54408	3.606368	0.345285475895362	0.58226	3.991719	0.999999979756169	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.659464	0.59346	0	0.668105	0.65232	0	.	.	6.08	6.08	0.98982	7.926000	0.87003	11.902000	0.99384	0.596000	0.33519	1.000000	0.71638	1.000000	0.68203	0.901000	0.43729	0.0:0.0:1.0:0.0	20.665	0.99682	790	0.46189	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1308.98	34	chr9	20413788	.	G	A	1308.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.08;DP=826;ExcessHet=0.0000;FS=1.363;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.35;ReadPosRankSum=0.745;SOR=0.535	GT:AD:DP:GQ:PL	0/1:82,58:140:99:1323,0,1891	20	0	1	0
chr9	21304914	21304914	G	A	exonic	IFNA5	.	stopgain	IFNA5:NM_002169:exon1:c.C343T:p.Q115X,	.	.	419	1099	4	0	0	4	0.00181653	.	.	723533	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0	D	.	.	.	.	0.000	D	1.000	D	.	.	.	.	.	.	.	.	.	2.391	13.96	2.27	0.342	1.652	6.299	.	.	0.0038	0.000998403	0.0052	0.0010	0.0020	0	0.0207	0.0067	0.0044	0.0004	0.004877	754	154602	rs41298198	0.0056	0.0056	0.0057	0.0055	0.0057	0.0055	0.0054	0.0055	0.0055	0.0006	0.0022	0.0082	2.519e-05	0.0218	0.0019	0.0057	0.0046	0.0006	0.0050	0.0050	0.0043	0.0057	0.0067	0.0047	0.0046	0.0062	0.0060	0.0007	0.0011	0.0021	0.0049	0	0.0198	0	0.0067	0.0024	0.0006	.	.	.	.	.	.	.	.	.	.	.	.	0.000000	0.84330	D	0.000000	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.042	0.01498	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.135181	0.30660	T	0.0440758	0.73194	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.970657	0.94220	34	0.97691746127371137	0.35382	0.06572	0.12586	N	AEFBI	0.032904	0.03805	N	0.063583458156119	0.44770	2.74501	-0.30453147714416	0.27952	1.554795	0.00679061449109165	0.11307	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.530356	0.10902	0	.	.	4.16	2.27	0.27501	1.754000	0.37998	.	.	-0.187000	0.09635	0.403000	0.26194	0.000000	0.08366	0.004000	0.06068	0.0992:0.0:0.7185:0.1823	6.299	0.20309	804	0.43891	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	4043.98	33	chr9	21304914	.	G	A	4043.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.961e+00;DP=1151;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.48;ReadPosRankSum=-1.980e-01;SOR=0.679	GT:AD:DP:GQ:PL	0/1:225,161:386:99:4058,0,6046	20	0	1	0
chr9	35906589	35906589	-	CCACCACCA	exonic	HRCT1	.	nonframeshift insertion	HRCT1:NM_001039792:exon1:c.302_303insCCACCACCA:p.H105_P106insHHH,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2143	7124.21	33	chr9	35906586	.	TCCA	T,TCCACCACCACCA,TCCACCACCA,TCCACCACCACCACCACCCCCACCACCACCCCCACCACACCCCTCACCACCTCCACCA,TCCACCACCACCACCA	7124.21	.	AC=4,1,1,1,3;AF=0.095,0.024,0.024,0.024,0.071;AN=42;BaseQRankSum=0.814;DP=993;ExcessHet=0.2067;FS=2.348;InbreedingCoeff=0.2330;MLEAC=4,1,1,1,3;MLEAF=0.095,0.024,0.024,0.024,0.071;MQ=60.00;MQRankSum=0.00;QD=27.09;ReadPosRankSum=0.818;SOR=0.553	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:7,14,0,0,0,0:21:99:.:.:568,0,215,589,258,847,589,258,847,847,589,258,847,847,847,589,258,847,847,847,847	13	1	1	0
chr9	35906589	35906589	-	CCACCA	exonic	HRCT1	.	nonframeshift insertion	HRCT1:NM_001039792:exon1:c.302_303insCCACCA:p.H105_P106insHH,	.	.	713	702	43	17	47	124	0.0519919	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2143	7124.21	33	chr9	35906586	.	TCCA	T,TCCACCACCACCA,TCCACCACCA,TCCACCACCACCACCACCCCCACCACCACCCCCACCACACCCCTCACCACCTCCACCA,TCCACCACCACCACCA	7124.21	.	AC=4,1,1,1,3;AF=0.095,0.024,0.024,0.024,0.071;AN=42;BaseQRankSum=0.814;DP=993;ExcessHet=0.2067;FS=2.348;InbreedingCoeff=0.2330;MLEAC=4,1,1,1,3;MLEAF=0.095,0.024,0.024,0.024,0.071;MQ=60.00;MQRankSum=0.00;QD=27.09;ReadPosRankSum=0.818;SOR=0.553	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:7,14,0,0,0,0:21:99:.:.:568,0,215,589,258,847,589,258,847,847,589,258,847,847,847,589,258,847,847,847,847	13	1	1	0
chr9	35906589	35906589	-	CCACCACCACCACCCCCACCACCACCCCCACCACACCCCTCACCACCTCCACCA	exonic	HRCT1	.	nonframeshift insertion	HRCT1:NM_001039792:exon1:c.302_303insCCACCACCACCACCCCCACCACCACCCCCACCACACCCCTCACCACCTCCACCA:p.H107_R108insHHPHHTPHHLHHHHHHPH,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2143	7124.21	33	chr9	35906586	.	TCCA	T,TCCACCACCACCA,TCCACCACCA,TCCACCACCACCACCACCCCCACCACCACCCCCACCACACCCCTCACCACCTCCACCA,TCCACCACCACCACCA	7124.21	.	AC=4,1,1,1,3;AF=0.095,0.024,0.024,0.024,0.071;AN=42;BaseQRankSum=0.814;DP=993;ExcessHet=0.2067;FS=2.348;InbreedingCoeff=0.2330;MLEAC=4,1,1,1,3;MLEAF=0.095,0.024,0.024,0.024,0.071;MQ=60.00;MQRankSum=0.00;QD=27.09;ReadPosRankSum=0.818;SOR=0.553	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:7,14,0,0,0,0:21:99:.:.:568,0,215,589,258,847,589,258,847,847,589,258,847,847,847,589,258,847,847,847,847	13	1	1	0
chr9	35906589	35906589	-	CCACCACCACCA	exonic	HRCT1	.	nonframeshift insertion	HRCT1:NM_001039792:exon1:c.302_303insCCACCACCACCA:p.H105_P106insHHHH,	.	.	713	702	43	17	47	124	0.0519919	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2143	7124.21	33	chr9	35906586	.	TCCA	T,TCCACCACCACCA,TCCACCACCA,TCCACCACCACCACCACCCCCACCACCACCCCCACCACACCCCTCACCACCTCCACCA,TCCACCACCACCACCA	7124.21	.	AC=4,1,1,1,3;AF=0.095,0.024,0.024,0.024,0.071;AN=42;BaseQRankSum=0.814;DP=993;ExcessHet=0.2067;FS=2.348;InbreedingCoeff=0.2330;MLEAC=4,1,1,1,3;MLEAF=0.095,0.024,0.024,0.024,0.071;MQ=60.00;MQRankSum=0.00;QD=27.09;ReadPosRankSum=0.818;SOR=0.553	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:7,14,0,0,0,0:21:99:.:.:568,0,215,589,258,847,589,258,847,847,589,258,847,847,847,589,258,847,847,847,847	13	1	1	0
chr9	37782130	37782130	T	C	exonic	EXOSC3	.	nonsynonymous SNV	EXOSC3:NM_016042:exon3:c.A482G:p.D161G,	Pontocerebellar hypoplasia, type 1B, Autosomal recessive	YES	.	.	.	.	.	.	.	.	.	1666690	Pontocerebellar_hypoplasia_type_1B	MONDO:MONDO:0013853,MedGen:C3553449,OMIM:614678,Orphanet:2254	criteria_provided,_single_submitter	Likely_pathogenic	.	.	.	.	.	.	.	.	0	D	1.0	D	0.975	D	0.000	D	1.000	D	3.11	M	-2.1	D	0.825	D	0.812	D	0.981	4.623	25.3	5.49	2.207	8.029	13.836	0.917	0.222076511813	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	0.56456	D	0.016	0.60972	D	1.0	0.90584	D	0.975	0.73362	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.135	0.88152	M	-2.1	0.86146	D	-5.7	0.87380	D	0.971	0.98167	0.825	0.94719	D	0.812	0.93676	D	10	0.91090506	0.90455	D	0.222077	0.87837	D	0.917	0.97852	0.694	0.83126	0.924815045053	0.92404	0.820757248253165	0.82032	0.683597874997	0.60172	0.748694419861	0.74254	T	0.378836	0.74172	T	0.443885	0.92201	D	0.399834	0.92104	D	0.997352804602829	0.91359	D	0.90021	0.65300	D	0.8783517	0.89531	0.784656	0.87314	0.8783517	0.89533	0.784656	0.87315	-11.763	0.83677	D	0.9629505689674748	0.98791	0.992	0.94308	P	.	.	5.467460	0.91233	32	0.99851946131486902	0.93102	0.99729	0.99021	D	AEFBI	0.927382	0.90994	D	0.903394704860887	0.91925	11.13809	0.847956997502576	0.92895	11.69804	0.999999999993161	0.74766	0.67177	0.52595	0	0.662677	0.63036	0	0.702456	0.68683	0	0.636168	0.56350	0	.	.	5.49	5.49	0.81022	8.007000	0.88101	7.838000	0.70402	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:0.0:1.0	13.836	0.62903	568	0.70638	Rrp40, S1 domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	160.03	41	chr9	37782130	.	T	C	160.03	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.332e+00;DP=1172;ExcessHet=0.0000;FS=82.129;InbreedingCoeff=-0.0278;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=0.63;ReadPosRankSum=2.26;SOR=8.485	GT:AD:DP:GQ:PL	0/1:210,45:255:99:174,0,4873	20	0	1	0
chr9	41133735	41133735	A	T	exonic	CBWD3;CBWD6	.	nonsynonymous SNV	CBWD3:NM_001378116:exon10:c.T677A:p.V226D	.	.	598	923	1	0	0	1	0.000541419	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.62	T	0.154	B	0.219	B	0.507	N	1.000	D	1.41	L	2.31	T	-1.062	T	0.035	T	0.619	0.842	8.401	1.49	0.169	4.480	5.558	0.202	0.00427175291455	.	0.000798722	0.0004	0	0.0002	0	0	0.0003	0	0.0020	0.0001537	4	26028	rs561176216	0.0003	0.0003	0.0002	0.0003	0.0017	0.0003	0.0003	0.0013	0.0012	5.996e-05	0.0002	0	0	0	0.0017	0.0002	0.0002	0.0015	0.0002	0.0002	0.0002	0.0002	0.0023	0.0001	0.0001	0.0013	0.0010	0	0	0.0002	0	0	0	0	0.0002	0.0005	0.0023	.	.	.	0.449	0.25286	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.466	0.53006	.	.	.	.	.	.	.	0.19970506	0.35989	T	.	.	.	.	.	.	.	.	.	0.5730802083160909	0.57236	.	.	.	.	.	0.005082	0.04516	T	.	.	.	.	.	.	.	.	.	0.970003	0.89184	D	.	.	.	.	.	.	.	.	-5.005	0.36894	T	.	.	0.347	0.57853	A	.;.;.	.;.;.	2.443889	0.31461	18.75	.	.	.	.	.	.	0.527749	0.54956	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.134000	0.64611	4.679000	0.44312	0.351000	0.19951	1.000000	0.71638	0.985000	0.30750	0.874000	0.41677	.	.	.	994	0.00715	Cobalamin (vitamin B12) biosynthesis CobW-like, C-terminal|Cobalamin (vitamin B12) biosynthesis CobW-like, C-terminal;Cobalamin (vitamin B12) biosynthesis CobW-like, C-terminal|Cobalamin (vitamin B12) biosynthesis CobW-like, C-terminal;Cobalamin (vitamin B12) biosynthesis CobW-like, C-terminal|Cobalamin (vitamin B12) biosynthesis CobW-like, C-terminal	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025	924.33	72	chr9	41133735	.	A	T	924.33	.	AC=1;AF=0.025;AN=40;BaseQRankSum=0.153;DP=1426;ExcessHet=0.0000;FS=7.880;InbreedingCoeff=-0.0256;MLEAC=1;MLEAF=0.025;MQ=33.09;MQRankSum=1.71;QD=2.72;ReadPosRankSum=0.292;SOR=0.371	GT:AD:DP:GQ:PL	0/1:268,72:340:99:938,0,6243	19	0	1	1
chr9	68391660	68391660	C	T	exonic	PGM5	.	nonsynonymous SNV	PGM5:NM_021965:exon5:c.C824T:p.T275M,	.	.	434	1053	35	0	0	35	0.0163475	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.997	D	0.953	D	0.000	D	0.997	D	0.015	N	-0.07	T	-0.717	T	0.039	T	0.569	3.778	19.18	4.92	2.274	3.210	16.875	0.255	0.0420124463087	.	.	.	.	.	.	.	.	.	.	.	.	.	rs2482223	3.156e-05	0.0002	2.048e-05	4.275e-05	0.0003	2.419e-05	2.164e-05	0.0002	0.0002	0	2.252e-05	0	0.0002	0	0	9.01e-06	0	0.0003	0.0001	0.0009	0.0001	0.0001	0.0004	6.734e-05	5.502e-05	7.124e-05	3.157e-05	0.0001	0	6.798e-05	0	0.0004	0.0002	0	7.552e-05	0	0.0002	0.033	0.51853	D	0.023	0.57587	D	0.997	0.70673	D	0.953	0.69275	D	0.000200	0.48115	D	0.177992	0.99672	0.43377	D	1.46	0.36832	L	-0.07	0.63738	T	-1.62	0.42384	N	0.431	0.47022	-0.7165	0.59634	T	0.039	0.16806	T	10	0.412278	0.56306	T	0.042012	0.60239	D	0.255	0.56562	.	.	0.389984549148	0.38611	0.540163387264652	0.53941	0.834181606955	0.67746	0.740072250366	0.72984	T	0.278625	0.65129	T	-0.0107297	0.50165	T	-0.253189	0.49503	T	0.96870094537735	0.68335	D	0.788221	0.44094	T	0.11474768	0.27086	0.14532493	0.34470	0.11474768	0.27085	0.14532493	0.34469	-3.495	0.30069	T	.	.	0.086	0.16582	B	.;.;.	.;.;.	4.888857	0.80252	27.3	0.99874385469611704	0.95160	0.88987	0.49190	D	AEFI	0.468069	0.51503	N	0.399773949466365	0.61409	4.341719	0.44267257334315	0.64249	4.67563	0.0220376454646537	0.13399	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.92	4.92	0.64147	3.277000	0.51358	7.649000	0.63599	0.581000	0.30040	0.994000	0.38300	1.000000	0.68203	0.989000	0.64315	0.0:1.0:0.0:0.0	16.875	0.85916	988	0.01987	.;Alpha-D-phosphohexomutase, alpha/beta/alpha domain II;.	.	.	.	.	rs148242804	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02632	32.7	97	chr9	68391660	.	C	T	32.7	.	AC=1;AF=0.026;AN=38;BaseQRankSum=4.24;DP=1292;ExcessHet=0.0000;FS=41.891;InbreedingCoeff=-0.0392;MLEAC=1;MLEAF=0.026;MQ=52.80;MQRankSum=-5.524e+00;QD=0.31;ReadPosRankSum=-2.638e+00;SOR=4.423	GT:AD:DP:GQ:PL	0/1:93,12:105:46:46,0,2405	18	0	1	2
chr9	77353445	77353445	A	G	exonic	VPS13A	.	nonsynonymous SNV	VPS13A:NM_001018037:exon53:c.A7339G:p.I2447V	Choreoacanthocytosis, Autosomal recessive	.	11	1491	18	2	0	22	0.00732357	.	.	508841	not_provided|Chorea-acanthocytosis|VPS13A-related_disorder	MedGen:C3661900|MONDO:MONDO:0008695,MedGen:C0393576,OMIM:200150,Orphanet:2388|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.51	T	0.035	B	0.016	B	0.002	N	1.000	D	0.63	N	0.96	T	-1.086	T	0.056	T	0.085	0.024	4.136	2.87	0.302	1.551	5.560	0.035	0.00509907513593	0.0005	0.00239617	0.0017	9.733e-05	0.0004	0	0	0.0009	0.0011	0.0084	0.0015265	236	154602	rs142981309	0.0011	0.0011	0.0008	0.0014	0.0082	0.0010	0.0010	0.0077	0.0075	5.983e-05	0.0004	0.0039	2.526e-05	0	0.0038	0.0006	0.0012	0.0082	0.0006	0.0006	0.0004	0.0008	0.0077	0.0005	0.0005	0.0057	0.0051	0	0	0.0003	0.0032	0.0004	0	0.0068	0.0005	0.0010	0.0077	0.281	0.15665	T	0.291	0.21343	T	0.035	0.20614	B	0.012	0.17743	B	0.001897	0.37740	N	0.118206	0.921243	0.27288	N	0.345	0.11182	N	0.96	0.42888	T	-0.54	0.17834	N	0.474	0.52297	-1.0857	0.06281	T	0.056	0.23565	T	10	0.008465022	0.00192	T	0.005099	0.12939	T	0.035	0.08770	.	.	0.132336055621	0.12781	0.17412429234440926	0.17331	0.113962728729	0.12857	0.382533103228	0.22616	T	0.173373	0.52222	T	-0.60769	0.00131	T	-0.639425	0.09712	T	0.00726157394679778	0.00083	T	0.70393	0.31399	T	0.02107173	0.00691	0.025982434	0.00665	0.02000986	0.00545	0.021071348	0.00172	-3.329	0.15327	T	.	.	0.068	0.02797	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	0.529483	0.08981	5.764	0.67630093831559157	0.08412	0.40322	0.26411	N	AEGI	0.051549	0.09117	N	-0.886275842468932	0.11169	0.5375229	-0.739511580399801	0.15981	0.8431712	0.0156997794771085	0.12744	0.732398	0.92422	0	0.743671	0.97443	0	0.658983	0.55881	0	0.727631	0.95156	0	.	.	5.22	2.87	0.32523	1.595000	0.36318	3.080000	0.36236	-0.744000	0.03643	0.839000	0.30269	0.968000	0.29604	0.537000	0.29868	0.581:0.1358:0.2833:0.0	5.560	0.16423	543	0.72751	.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.04762	1304.11	36	chr9	77353445	.	A	G	1304.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.68;DP=858;ExcessHet=0.1072;FS=1.538;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=10.11;ReadPosRankSum=0.960;SOR=0.858	GT:AD:DP:GQ:PL	0/1:41,29:70:99:710,0,1244	19	0	2	0
chr9	92080918	92080918	G	C	exonic	SPTLC1	.	nonsynonymous SNV	SPTLC1:NM_001281303:exon4:c.C306G:p.N102K	Neuropathy, hereditary sensory and autonomic, type IA, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.999	D	0.000	D	1.000	D	3.935	H	-3.73	D	1.004	D	0.941	D	0.414	2.778	15.25	2.15	0.116	2.094	10.600	0.845	0.399896509883	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0011	0.0068	0.0012	0.0010	0.0013	0.0011	0.0010	0.0013	0.0012	0.0012	4.477e-05	0.0003	0.0002	1.873e-05	0.0009	0.0013	0.0009	0.0003	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.91255	D	0.005	0.92824	D	1.0	0.90584	D	0.997	0.86255	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.83	0.95627	H	-3.73	0.95458	D	-5.47	0.87143	D	0.946	0.96984	1.004	0.97255	D	0.941	0.98064	D	10	0.97626525	0.97408	D	0.399897	0.93374	D	0.845	0.95175	0.798	0.91802	0.945416172085	0.94484	0.9614716476571766	0.96133	1.13632118652	0.78799	0.737543225288	0.72611	T	0.97255	0.99710	D	0.219858	0.75763	D	0.0780339	0.75447	D	0.995089709758759	0.86803	D	0.978602	0.92442	D	0.9519136	0.96460	0.8880654	0.94130	0.9519136	0.96460	0.8880654	0.94130	-14.216	0.93737	D	0.860758186576928	0.92428	0.988	0.93037	P	.;.	.;.	4.020987	0.59386	24.1	0.9926344721683531	0.57289	0.83408	0.42527	D	AEFBI	0.256177	0.37516	N	0.211284656944223	0.51746	3.353416	0.0637648407406021	0.42742	2.59063	0.00398181740670549	0.10368	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.0	2.15	0.26590	1.717000	0.37612	4.300000	0.42938	-0.106000	0.15538	1.000000	0.71638	1.000000	0.68203	0.990000	0.65344	0.3508:0.0:0.6492:0.0	10.600	0.44552	892	0.26670	Aminotransferase, class I/classII;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	16167.74	344	chr9	92080918	.	G	C	16167.74	.	AC=21;AF=0.500;AN=42;BaseQRankSum=-4.447e+00;DP=7903;ExcessHet=54.0936;FS=420.103;InbreedingCoeff=-1.0000;MLEAC=21;MLEAF=0.500;MQ=60.00;MQRankSum=0.00;QD=2.24;ReadPosRankSum=1.19;SOR=16.175	GT:AD:DP:GQ:PL	0/1:240,144:409:99:753,0,3877	0	0	21	0
chr9	92186775	92186775	C	G	exonic	PRSS47	.	nonsynonymous SNV	PRSS47:NM_001350291:exon4:c.G589C:p.G197R,	.	.	555	924	41	2	0	45	0.0237718	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00738818	.	.	.	.	.	.	.	.	0.0016559	256	154602	rs75298708	0.0156	0.0005	0.0179	0.0133	0.0269	0.0122	0.0109	0.0206	0.0183	0.0250	0	0	0	0.0014	0.0269	0	0.0082	0.0109	0.0082	0.0082	0.0084	0.0080	0.0146	0.0079	0.0077	0.0118	0.0108	0.0013	0.0570	0.0067	0.0378	0.0133	0.0022	0.0340	0.0106	0.0095	0.0146	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.07895	50.83	2	chr9	92186775	.	C	G	50.83	.	AC=3;AF=0.079;AN=38;BaseQRankSum=-6.190e-01;DP=105;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=0.2341;MLEAC=3;MLEAF=0.079;MQ=60.00;MQRankSum=0.00;QD=5.08;ReadPosRankSum=0.619;SOR=0.307	GT:AD:DP:GQ:PL	0/1:6,2:8:25:25,0,140	17	1	1	2
chr9	92474746	92474748	TCA	-	exonic	ASPN	.	nonframeshift deletion	ASPN:NM_001193335:exon2:c.150_152del:p.D50del	.	.	454	146	147	195	580	1117	0.647768	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5714	49358.33	62	chr9	92474742	.	CTCATCA	CTCA,CTCATCATCA,CTCATCATCATCATCA,CTCATCATCATCA,C	49358.33	.	AC=13,15,1,4,3;AF=0.310,0.357,0.024,0.095,0.071;AN=42;BaseQRankSum=0.466;DP=2565;ExcessHet=0.1217;FS=0.000;InbreedingCoeff=0.2222;MLEAC=13,15,1,4,3;MLEAF=0.310,0.357,0.024,0.095,0.071;MQ=60.00;MQRankSum=0.00;QD=34.37;ReadPosRankSum=-1.900e-02;SOR=0.805	GT:AD:DP:GQ:PL	2/5:1,0,45,0,0,40:86:99:3235,3310,3555,1610,1672,1515,3310,3555,1672,3555,3310,3555,1672,3555,3555,1671,1955,0,1955,1955,2036	1	2	3	0
chr9	92474748	92474748	-	TCA	exonic	ASPN	.	nonframeshift insertion	ASPN:NM_001193335:exon2:c.149_150insTGA:p.D50_E51insD	.	.	454	146	147	195	580	1117	0.647768	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5714	49358.33	62	chr9	92474742	.	CTCATCA	CTCA,CTCATCATCA,CTCATCATCATCATCA,CTCATCATCATCA,C	49358.33	.	AC=13,15,1,4,3;AF=0.310,0.357,0.024,0.095,0.071;AN=42;BaseQRankSum=0.466;DP=2565;ExcessHet=0.1217;FS=0.000;InbreedingCoeff=0.2222;MLEAC=13,15,1,4,3;MLEAF=0.310,0.357,0.024,0.095,0.071;MQ=60.00;MQRankSum=0.00;QD=34.37;ReadPosRankSum=-1.900e-02;SOR=0.805	GT:AD:DP:GQ:PL	2/5:1,0,45,0,0,40:86:99:3235,3310,3555,1610,1672,1515,3310,3555,1672,3555,3310,3555,1672,3555,3555,1671,1955,0,1955,1955,2036	1	2	3	0
chr9	92474748	92474748	-	TCATCATCA	exonic	ASPN	.	nonframeshift insertion	ASPN:NM_001193335:exon2:c.149_150insTGATGATGA:p.D50_E51insDDD	.	.	454	146	147	195	580	1117	0.647768	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5714	49358.33	62	chr9	92474742	.	CTCATCA	CTCA,CTCATCATCA,CTCATCATCATCATCA,CTCATCATCATCA,C	49358.33	.	AC=13,15,1,4,3;AF=0.310,0.357,0.024,0.095,0.071;AN=42;BaseQRankSum=0.466;DP=2565;ExcessHet=0.1217;FS=0.000;InbreedingCoeff=0.2222;MLEAC=13,15,1,4,3;MLEAF=0.310,0.357,0.024,0.095,0.071;MQ=60.00;MQRankSum=0.00;QD=34.37;ReadPosRankSum=-1.900e-02;SOR=0.805	GT:AD:DP:GQ:PL	2/5:1,0,45,0,0,40:86:99:3235,3310,3555,1610,1672,1515,3310,3555,1672,3555,3310,3555,1672,3555,3555,1671,1955,0,1955,1955,2036	1	2	3	0
chr9	92474748	92474748	-	TCATCA	exonic	ASPN	.	nonframeshift insertion	ASPN:NM_001193335:exon2:c.149_150insTGATGA:p.D50_E51insDD	.	.	454	146	147	195	580	1117	0.647768	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5714	49358.33	62	chr9	92474742	.	CTCATCA	CTCA,CTCATCATCA,CTCATCATCATCATCA,CTCATCATCATCA,C	49358.33	.	AC=13,15,1,4,3;AF=0.310,0.357,0.024,0.095,0.071;AN=42;BaseQRankSum=0.466;DP=2565;ExcessHet=0.1217;FS=0.000;InbreedingCoeff=0.2222;MLEAC=13,15,1,4,3;MLEAF=0.310,0.357,0.024,0.095,0.071;MQ=60.00;MQRankSum=0.00;QD=34.37;ReadPosRankSum=-1.900e-02;SOR=0.805	GT:AD:DP:GQ:PL	2/5:1,0,45,0,0,40:86:99:3235,3310,3555,1610,1672,1515,3310,3555,1672,3555,3310,3555,1672,3555,3555,1671,1955,0,1955,1955,2036	1	2	3	0
chr9	96819529	96819529	C	A	exonic	ZNF782	.	nonsynonymous SNV	ZNF782:NM_001346993:exon4:c.G422T:p.R141L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.67	T	0.0	B	0.0	B	.	.	1.000	P	-0.895	N	5.98	T	-0.932	T	0.004	T	0.327	-0.408	2.091	-4.0	-1.320	-0.145	3.225	0.041	0.000896652167863	.	.	8.255e-06	0	0	0	0	1.501e-05	0	0	6.5e-06	1	154602	rs4645656	6.848e-07	6.84e-07	0	1.377e-06	8.997e-07	0	0	.	.	0	0	0	0	0	0	8.997e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.658	0.08943	T	0.912	0.04825	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	P	-1.445	0.00556	N	3.69	0.04114	T	2.37	0.00310	N	0.063	0.04668	-0.9319	0.43859	T	0.004	0.01330	T	8	0.033929974	0.01583	T	8.97E-4	0.00844	T	0.041	0.10877	0.524	0.62818	0.254244900254	0.25046	0.04433362831807223	0.04377	0.125945359065	0.14199	0.278184771538	0.07240	T	0.001582	0.01021	T	-0.264268	0.12404	T	-0.617379	0.11391	T	0.019273647166571	0.00633	T	0.0590941	0.00855	T	0.040805943	0.05892	0.041228253	0.04637	0.040805943	0.05892	0.041228253	0.04637	-2.08	0.03499	T	.	.	0.106	0.21578	B	.;.;.	.;.;.	-0.054531	0.03919	0.867	0.15256631057433792	0.00366	0.00002	0.00064	N	AEFGBHCI	0.015981	0.00332	N	-1.81364783500322	0.00512	0.02206136	-1.82350469604324	0.00687	0.03056922	0.0318755322217933	0.14025	0.651	0.46895	0	0.708844	0.79440	0	0.658983	0.55881	0	0.491896	0.07777	0	.	.	3.38	-4.0	0.03787	0.300000	0.18911	-0.256000	0.10466	-0.681000	0.04224	0.000000	0.06391	0.000000	0.08366	0.024000	0.12247	0.1753:0.4618:0.0921:0.2708	3.225	0.06331	757	0.50970	.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.119	8824.62	126	chr9	96819529	.	C	A,T	8824.62	.	AC=1,4;AF=0.024,0.095;AN=42;BaseQRankSum=2.56;DP=1311;ExcessHet=1.1607;FS=1.745;InbreedingCoeff=-0.1351;MLEAC=1,4;MLEAF=0.024,0.095;MQ=60.00;MQRankSum=0.00;QD=12.50;ReadPosRankSum=-5.840e-01;SOR=0.635	GT:AD:DP:GQ:PL	0/1:73,81,0:154:99:2152,0,1847,2371,2090,4461	16	0	1	0
chr9	97854424	97854424	-	GCC	exonic	FOXE1	.	nonframeshift insertion	FOXE1:NM_004473:exon1:c.510_511insGCC:p.A179_I180insA,	Bamforth-Lazarus syndrome, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs755194188	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7143	10238.96	16	chr9	97854418	.	AGCCGCC	AGCCGCCGCC,A	10238.96	.	AC=2,29;AF=0.048,0.690;AN=42;BaseQRankSum=0.545;DP=637;ExcessHet=0.4237;FS=0.947;InbreedingCoeff=0.1378;MLEAC=2,29;MLEAF=0.048,0.690;MQ=60.00;MQRankSum=0.00;QD=30.56;ReadPosRankSum=1.13;SOR=0.623	GT:AD:DP:GQ:PGT:PID:PL:PS	2|2:0,0,12:12:37:1|1:97854418_AGCCGCC_A:507,507,507,37,37,0:97854418	2	0	1	0
chr9	104837095	104837095	A	G	exonic	ABCA1	.	nonsynonymous SNV	ABCA1:NM_005502:exon11:c.T1196C:p.V399A,	HDL deficiency, type 2;Tangier disease, Autosomal recessive	.	2	1507	13	0	0	13	0.00429468	0.0211	0.148	316093	Hypoalphalipoproteinemia,_primary,_1|Tangier_disease|Cardiovascular_phenotype|not_specified|not_provided	MONDO:MONDO:0011393,MedGen:C5231558,OMIM:604091,Orphanet:425|MONDO:MONDO:0008783,MedGen:C0039292,OMIM:205400,Orphanet:31150|MedGen:CN230736|MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	1	T	0.109	B	0.071	B	0.000	D	1.000	D	0.995	L	-1.83	D	-0.504	T	0.325	T	0.76	0.752	7.986	5.7	2.170	8.910	15.966	0.506	0.030297797865	0.0038	0.00199681	0.0035	0.0009	0.0033	0	0.0008	0.0053	0	0.0014	0.0035381	547	154602	rs9282543	0.0046	0.0046	0.0047	0.0045	0.0062	0.0045	0.0045	0.0051	0.0051	0.0008	0.0028	0.0129	0	0.0007	0.0062	0.0052	0.0049	0.0012	0.0035	0.0035	0.0038	0.0033	0.0057	0.0033	0.0032	0.0053	0.0051	0.0011	0	0.0021	0.0136	0	0.0008	0.0102	0.0057	0.0047	0.0006	0.911	0.02361	T	1.0	0.01155	T	0.109	0.26142	B	0.071	0.27960	B	0.000000	0.84330	D	0.000000	0.999993	0.58761	D	1.02	0.25474	L	-1.83	0.84122	D	0.2	0.04861	N	0.885	0.88356	-0.5038	0.68512	T	0.325	0.69324	T	10	0.018427223	0.00401	T	0.030298	0.52638	D	0.506	0.78724	.	.	0.88467983427	0.88354	0.8064539770788843	0.80600	0.313848368464	0.33672	0.6139716506	0.54876	T	0.240071	0.60832	T	-0.125284	0.32262	T	0.0487669	0.73503	D	0.0243171223685156	0.01184	T	0.873013	0.58094	D	0.45237097	0.64191	0.2620861	0.51996	0.45237097	0.64192	0.2620861	0.51995	-3.825	0.21178	T	0.20332149171123126	0.27067	0.544	0.66532	A	.	.	3.967966	0.58246	24.0	0.61862214878713151	0.06816	0.98774	0.86679	D	AEFBI	0.923586	0.90029	D	-0.0379467295626377	0.40143	2.378968	0.183708304341091	0.48956	3.104641	0.999999956855704	0.74766	0.651	0.46895	0	0.59043	0.45803	0	0.65145	0.50148	0	0.669	0.65921	0	.	.	5.7	5.7	0.88690	7.145000	0.76950	11.215000	0.89546	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.985000	0.61073	1.0:0.0:0.0:0.0	15.966	0.79764	937	0.14592	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1906.98	33	chr9	104837095	.	A	G	1906.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.078;DP=826;ExcessHet=0.0000;FS=4.878;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.44;ReadPosRankSum=0.951;SOR=1.238	GT:AD:DP:GQ:PL	0/1:47,69:116:99:1921,0,1190	20	0	1	0
chr9	105468272	105468272	G	T	exonic	FSD1L	.	nonsynonymous SNV	FSD1L:NM_001287191:exon3:c.G191T:p.S64I	.	.	478	1025	16	3	0	22	0.0106178	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.24	T	0.979	D	0.83	P	0.000	U	1.000	D	1.61	L	0.89	T	-0.986	T	0.146	T	0.51	4.170	21.6	5.98	2.843	5.539	19.208	0.104	.	0.0070	0.00419329	0.0115	0.0021	0.0073	0	0.0134	0.0096	0.0039	0.0182	0.0030401	470	154602	rs41316532	0.0090	0.0085	0.0087	0.0093	0.0154	0.0089	0.0088	0.0146	0.0143	0.0008	0.0024	0.0041	0	0.0150	0.0107	0.0090	0.0085	0.0154	0.0065	0.0065	0.0065	0.0066	0.0160	0.0062	0.0061	0.0131	0.0120	0.0015	0	0.0032	0.0035	0	0.0148	0.0102	0.0092	0.0047	0.0160	0.373	0.15613	T	0.005	0.72224	D	0.958	0.55854	D	0.731	0.55321	P	0.000001	0.84330	U	0.000000	0.998917	0.81001	D	2.125	0.59049	M	0.89	0.45636	T	-1.88	0.43906	N	0.245	0.35194	-0.9864	0.33494	T	0.146	0.47003	T	10	0.0062506497	0.00141	T	.	.	.	0.104	0.29647	.	.	.	.	0.2526506555990148	0.25179	.	.	0.504707276821	0.39484	T	0.011386	0.20890	T	-0.399336	0.02338	T	-0.334071	0.41014	T	0.0199375652469306	0.00694	T	0.822018	0.48435	T	0.35095847	0.57142	0.24878375	0.50436	0.35095847	0.57142	0.24878375	0.50435	-4.993	0.42883	T	.	.	0.176	0.43680	B	.;.;.;.;.;.	.;.;.;.;.;.	3.857481	0.55922	23.7	0.99604712883829216	0.74456	0.96286	0.68399	D	AEFBI	0.544310	0.55929	D	0.54594108279199	0.69835	5.413843	0.618877642340096	0.76313	6.467733	0.999999998718641	0.74766	0.651	0.46895	0	0.708844	0.79440	0	0.602189	0.34648	0	0.683762	0.67416	0	.	.	5.98	5.98	0.97147	4.657000	0.61185	4.480000	0.43530	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:1.0:0.0	19.208	0.93728	960	0.08626	B-box, C-terminal;B-box, C-terminal;.;B-box, C-terminal;B-box, C-terminal;B-box, 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	0.02381	616.98	37	chr9	105468272	.	G	T	616.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-8.380e-01;DP=778;ExcessHet=0.0000;FS=0.875;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=7.71;ReadPosRankSum=-2.853e+00;SOR=0.762	GT:AD:DP:GQ:PL	0/1:50,30:80:99:631,0,1277	20	0	1	0
chr9	114406374	114406374	C	G	exonic	WHRN	.	nonsynonymous SNV	WHRN:NM_001346890:exon5:c.G1164C:p.R388S	Deafness, autosomal recessive 31, Autosomal recessive;Usher syndrome, type 2D, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.998	D	0.956	D	0.000	D	1.000	D	2.295	M	3.72	T	-1.147	T	0.071	T	0.888	2.729	15.09	4.38	2.485	0.438	9.668	0.246	0.0237251287023	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.368e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.249	0.34959	T	0.996	0.68779	D	0.956	0.69739	D	0.000003	0.62929	D	0.058524	0.999998	0.58761	D	2.485	0.72352	M	3.72	0.11082	T	-1.76	0.41618	N	0.794	0.79022	-1.1467	0.01127	T	0.071	0.28969	T	10	0.7061209	0.72749	D	0.023725	0.46702	T	0.246	0.55340	0.267	0.21418	0.465381546717	0.46164	0.546202977391294	0.54546	0.217767607061	0.24300	0.665198624134	0.62152	T	0.178877	0.52967	T	0.156707	0.69894	D	-0.0126771	0.69508	D	0.965095579624176	0.67160	D	0.918408	0.70674	D	0.43276304	0.62933	0.30041197	0.56075	0.43276304	0.62933	0.30041197	0.56074	-3.765	0.20655	T	.	.	0.861	0.82156	P	.;.;.	.;.;.	4.122777	0.61634	24.4	0.99728939135831174	0.82619	0.85209	0.44322	D	AEFDBI	0.404361	0.47768	N	0.490746823562894	0.66546	4.964436	0.418910173237003	0.62744	4.495032	0.999998553595518	0.74766	0.706298	0.61202	0	0.633656	0.55848	0	0.709663	0.75317	0	0.586402	0.36253	0	.	.	5.29	4.38	0.52019	0.480000	0.21954	1.068000	0.23780	0.599000	0.40250	0.996000	0.39380	1.000000	0.68203	0.662000	0.33024	0.0:0.8454:0.0:0.1546	9.668	0.39158	627	0.65350	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.3529	5368.01	152	chr9	114406374	.	C	G	5368.01	.	AC=12;AF=0.353;AN=34;BaseQRankSum=-2.027e+00;DP=4227;ExcessHet=9.6308;FS=138.874;InbreedingCoeff=-0.5312;MLEAC=14;MLEAF=0.412;MQ=60.00;MQRankSum=0.00;QD=2.25;ReadPosRankSum=0.063;SOR=12.978	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:165,40:209:99:.:.:349,0,6287	5	0	12	4
chr9	114406375	114406375	C	G	exonic	WHRN	.	nonsynonymous SNV	WHRN:NM_001346890:exon5:c.G1163C:p.R388T	Deafness, autosomal recessive 31, Autosomal recessive;Usher syndrome, type 2D, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	1.0	D	0.982	D	0.000	D	1.000	D	2.295	M	3.67	T	-1.010	T	0.111	T	0.82	3.969	20.3	5.29	2.485	5.391	18.935	0.328	0.0327677642762	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.025	0.63918	D	1.0	0.90584	D	0.982	0.75477	D	0.000003	0.62929	D	0.058524	1	0.81001	D	2.485	0.72352	M	3.67	0.11947	T	-1.91	0.45042	N	0.816	0.81162	-1.0102	0.26854	T	0.111	0.39817	T	10	0.7625818	0.76459	D	0.032768	0.54504	D	0.328	0.65026	0.301	0.26843	0.629257994256	0.62622	0.515018125573271	0.51424	0.317085791368	0.33956	0.693475842476	0.66205	T	0.250673	0.62080	T	0.0954069	0.63792	D	-0.100731	0.63342	T	0.93917840719223	0.61041	D	0.923508	0.72088	D	0.42132396	0.62180	0.29035416	0.55058	0.42132396	0.62180	0.29035416	0.55057	-4.136	0.26316	T	.	.	0.663	0.73938	P	.;.;.	.;.;.	4.986942	0.82651	27.8	0.98226065711499799	0.39343	0.97842	0.77538	D	AEFDBI	0.694202	0.65328	D	0.672510807959941	0.77831	6.75116	0.61009073618077	0.75672	6.352084	0.999999999999999	0.74766	0.706298	0.61202	0	0.633656	0.55848	0	0.709663	0.75317	0	0.586402	0.36253	0	.	.	5.29	5.29	0.74430	5.501000	0.66665	7.602000	0.61596	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.667000	0.33166	0.0:1.0:0.0:0.0	18.935	0.92554	627	0.65350	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.2632	4474.23	143	chr9	114406375	.	C	G	4474.23	.	AC=10;AF=0.263;AN=38;BaseQRankSum=-4.573e+00;DP=3997;ExcessHet=6.1002;FS=130.641;InbreedingCoeff=-0.3565;MLEAC=11;MLEAF=0.289;MQ=60.00;MQRankSum=0.00;QD=2.30;ReadPosRankSum=0.216;SOR=12.457	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:181,40:221:99:.:.:349,0,6346	9	0	10	2
chr9	125915818	125915818	C	T	exonic	PBX3	.	nonsynonymous SNV	PBX3:NM_001134778:exon3:c.C182T:p.A61V	.	.	425	1071	24	2	0	28	0.0129032	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	1.0	D	0.999	D	0.000	D	1.000	D	2.25	M	1.46	T	-0.808	T	0.169	T	0.534	3.025	16.09	5.87	2.941	5.472	20.583	0.252	.	0.0061	0.00279553	0.0068	0.0021	0.0065	0	0.0009	0.0081	0.0145	0.0101	0.0067981	1051	154602	rs145687528	0.0086	0.0086	0.0085	0.0087	0.0135	0.0085	0.0084	0.0111	0.0105	0.0016	0.0075	0.0146	0	0.0014	0.0135	0.0091	0.0085	0.0114	0.0062	0.0062	0.0063	0.0061	0.0113	0.0058	0.0057	0.0099	0.0094	0.0017	0	0.0113	0.0133	0	0.0012	0.0170	0.0081	0.0128	0.0100	0.014	0.59928	D	0.013	0.64786	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.045618	1	0.81001	D	2.215	0.62545	M	1.46	0.32238	T	-2.52	0.58896	D	0.398	0.43899	-0.8085	0.54641	T	0.169	0.50842	T	10	0.008377612	0.00190	T	.	.	.	0.252	0.56159	.	.	0.364535869594	0.36064	0.5215813592853803	0.52081	0.900687736312	0.70621	0.659279584885	0.61305	T	0.152456	0.75873	T	-0.365064	0.03852	T	-0.286778	0.46107	T	0.0387569566226687	0.03466	T	0.945505	0.79398	D	0.46056888	0.64706	0.38526508	0.63447	0.46056888	0.64707	0.38526508	0.63447	-6.053	0.46819	T	.	.	0.266	0.64649	B	.;.;.;.;.	.;.;.;.;.	5.139392	0.86042	28.8	0.99781126894636163	0.86780	0.96113	0.67592	D	AEFBI	0.563643	0.57075	D	0.649353472822166	0.76325	6.46599	0.633237521612499	0.77366	6.665838	1.0	0.98316	0.736574	0.97449	0	0.724815	0.89359	0	0.732669	0.93749	0	0.756605	0.99741	0	.	.	5.87	5.87	0.94266	5.770000	0.68526	7.697000	0.66086	0.549000	0.26987	0.998000	0.41325	1.000000	0.68203	0.992000	0.67800	0.0:1.0:0.0:0.0	20.583	0.99411	211	0.91797	.;PBX;PBX;PBX;.	.	.	.	.	chr9:128678097	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.07143	3313.68	35	chr9	125915818	.	C	T	3313.68	.	AC=3;AF=0.071;AN=42;BaseQRankSum=-1.300e-02;DP=894;ExcessHet=0.3300;FS=0.000;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=13.15;ReadPosRankSum=-5.250e-01;SOR=0.673	GT:AD:DP:GQ:PL	0/1:33,49:82:99:1206,0,741	18	0	3	0
chr9	127707148	127707148	G	C	exonic	CFAP157	.	nonsynonymous SNV	CFAP157:NM_001012502:exon1:c.G117C:p.E39D,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.29	T	0.58	P	0.16	B	0.012	N	1.000	D	1.87	L	0.85	T	-1.078	T	0.089	T	0.151	2.394	13.96	2.23	0.458	0.075	3.228	0.048	0.00511713534183	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.054e-06	4.926e-05	2.725e-06	1.376e-06	2.699e-06	5.5e-07	1.5e-07	7.2e-07	2e-07	0	0	0	0	0	0	2.699e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.099	0.30656	T	0.133	0.34359	T	0.58	0.38813	P	0.16	0.34752	B	0.011693	0.29437	N	0.400143	0.937019	0.26902	N	.	.	.	0.85	0.47130	T	-2.13	0.48354	N	0.253	0.28616	-1.0776	0.07821	T	0.089	0.34271	T	10	0.15869087	0.29835	T	0.005117	0.13001	T	0.048	0.13305	0.117	0.02508	0.511220899679	0.50763	0.22389107574446282	0.22304	0.665481085244	0.59146	.	.	.	0.083009	0.36958	T	-0.233602	0.16174	T	-0.573329	0.15145	T	0.768105268478394	0.44326	D	0.642936	0.25461	T	0.07620602	0.17219	0.08653153	0.20054	0.07620602	0.17219	0.08653153	0.20054	-5.906	0.47647	T	.	.	0.170	0.37312	B	.;.	.;.	1.611943	0.20598	14.82	0.99153328533649743	0.53875	0.62448	0.31784	D	AEFDGBCI	0.199371	0.32618	N	-0.115357649790928	0.36724	2.126585	-0.0733379664216469	0.36497	2.124728	0.999992507834303	0.74766	0.497415	0.19182	0	0.59043	0.45803	0	0.587068	0.30358	0	0.645665	0.59343	0	.	.	5.46	2.23	0.27189	0.091000	0.14885	0.384000	0.17813	0.649000	0.52879	0.993000	0.37899	0.958000	0.29226	0.883000	0.42306	0.3494:0.0:0.4698:0.1808	3.228	0.06340	268	0.89479	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.425	2743.82	57	chr9	127707148	.	G	C,A	2743.82	.	AC=11,6;AF=0.275,0.150;AN=40;BaseQRankSum=-9.810e-01;DP=1576;ExcessHet=25.1139;FS=227.043;InbreedingCoeff=-0.7001;MLEAC=11,6;MLEAF=0.275,0.150;MQ=60.00;MQRankSum=0.00;QD=2.28;ReadPosRankSum=0.651;SOR=11.755	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:50,13,9:72:59:.:.:59,0,1485,97,783,842	3	0	11	1
chr9	127707149	127707149	T	C	exonic	CFAP157	.	nonsynonymous SNV	CFAP157:NM_001012502:exon1:c.T118C:p.F40L,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.65	T	0.957	D	0.799	P	0.000	N	1.000	D	2.175	M	1.01	T	-0.875	T	0.164	T	0.368	4.702	26.1	4.33	0.927	4.094	9.215	0.159	0.019678184343	.	.	8.323e-06	0	0	0	0	0	0	6.059e-05	6.5e-06	1	154602	rs757079161	0.0001	0.0036	0.0001	8.536e-05	0.0002	9.346e-05	8.764e-05	0.0001	9.824e-05	9.678e-05	0	0	2.569e-05	0	0	0.0001	5.349e-05	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.191	0.28391	T	0.957	0.54824	D	0.799	0.58136	P	0.000003	0.62929	N	0.105467	0.999583	0.47691	D	.	.	.	1.01	0.41058	T	-5.4	0.85103	D	0.489	0.52829	-0.8745	0.50188	T	0.164	0.50078	T	10	0.3438111	0.51386	T	0.019678	0.42104	T	0.159	0.41286	0.15	0.05339	0.612519348966	0.60940	0.6570251018140777	0.65639	0.875989159395	0.69568	.	.	.	0.327925	0.69838	T	-0.210031	0.19374	T	-0.357944	0.38290	T	0.938539505004883	0.60923	D	0.579842	0.20971	T	0.85248286	0.87520	0.67909664	0.81148	0.85248286	0.87521	0.67909664	0.81149	-9.512	0.72170	D	.	.	0.947	0.86617	P	.;.	.;.	4.218635	0.63791	24.6	0.99813715176146511	0.89708	0.79497	0.39404	D	AEFDGBCI	0.430877	0.49340	N	0.327399038086192	0.57559	3.923681	0.314456036050452	0.56389	3.802111	0.999999899276312	0.74766	0.497415	0.19182	0	0.59043	0.45803	0	0.587068	0.30358	0	0.645665	0.59343	0	.	.	5.46	4.33	0.51083	4.073000	0.57290	3.987000	0.40955	0.638000	0.52053	1.000000	0.71638	1.000000	0.68203	0.929000	0.46594	0.0:0.0857:0.0:0.9143	9.215	0.36505	268	0.89479	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.25	1341.42	63	chr9	127707149	.	T	C	1341.42	.	AC=10;AF=0.250;AN=40;BaseQRankSum=-1.954e+00;DP=1423;ExcessHet=6.1002;FS=146.491;InbreedingCoeff=-0.3339;MLEAC=10;MLEAF=0.250;MQ=60.00;MQRankSum=0.00;QD=1.86;ReadPosRankSum=0.801;SOR=10.525	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:59,13:72:33:.:.:33,0,1584	10	0	10	1
chr9	127724133	127724133	C	T	exonic	TTC16	.	stopgain	TTC16:NM_001317037:exon8:c.C847T:p.R283X	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	T	.	.	.	.	.	.	1.000	A	.	.	.	.	-0.979	T	0.083	T	.	4.747	26.5	4.66	1.295	2.102	12.121	0.136	.	0.0004	0.000199681	0.0002	0.0002	9.063e-05	0	0	0.0003	0	0	0.0001876	29	154602	rs202066294	0.0002	0.0002	0.0002	0.0002	0.0002	0.0002	0.0002	0.0002	0.0002	8.964e-05	0.0002	0	0	0	0.0002	0.0002	0.0003	0	0.0002	0.0002	0.0001	0.0002	0.0006	0.0001	0.0001	0.0003	0.0002	0	0	0.0006	0	0	0	0	0.0002	0.0005	0	.	.	.	.	.	.	.	.	.	.	.	.	0.000090	0.51296	D	0.000000	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.137	0.13484	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.301283	0.83072	D	0.495319	0.94515	D	0.591535806655884	0.36067	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive	High	8.029507	0.97104	37	0.9974738833516934	0.84002	0.67096	0.33309	D	AEFGBCI	0.154632	0.27969	N	0.513060626679337	0.67862	5.138536	0.341409612938418	0.57991	3.967328	0.999999991525869	0.74766	0.615755	0.39536	0	0.578056	0.33634	0	0.618376	0.41669	0	0.562822	0.20929	0	.	.	5.58	4.66	0.57857	2.296000	0.43245	2.420000	0.32683	0.469000	0.21855	1.000000	0.71638	1.000000	0.68203	0.082000	0.17360	0.3222:0.6778:0.0:0.0	12.121	0.53192	282	0.88846	Tetratricopeptide repeat-containing domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1369.98	39	chr9	127724133	.	C	T	1369.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-8.190e-01;DP=846;ExcessHet=0.0000;FS=3.393;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.91;ReadPosRankSum=0.333;SOR=0.388	GT:AD:DP:GQ:PL	0/1:28,53:81:99:1384,0,683	20	0	1	0
chr9	128246429	128246429	C	T	exonic	DNM1	.	unknown	UNKNOWN,	Epileptic encephalopathy, early infantile, 31, Autosomal dominant	.	365	1146	11	0	0	11	0.00477638	.	.	372170	Inborn_genetic_diseases|not_provided|Developmental_and_epileptic_encephalopathy,_31A	MeSH:D030342,MedGen:C0950123|MedGen:C3661900|MONDO:MONDO:0014598,MedGen:C4225357,OMIM:616346,Orphanet:2382	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	.	0.0003	0	0.0004	0	0	0.0003	0	0.0004	0.0002264	35	154602	rs145318071	0.0003	0.0003	0.0002	0.0003	0.0071	0.0002	0.0002	0.0054	0.0048	0.0001	0.0006	0.0005	2.519e-05	0	0.0071	0.0002	0.0006	0.0007	0.0004	0.0004	0.0004	0.0005	0.0015	0.0003	0.0003	0.0010	0.0009	0.0001	0	0.0015	0	0	0	0.0034	0.0004	0.0028	0.0010	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0.02381	1101.98	34	chr9	128246429	.	C	T	1101.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.126;DP=822;ExcessHet=0.0000;FS=3.210;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.41;ReadPosRankSum=0.125;SOR=0.469	GT:AD:DP:GQ:PL	0/1:80,51:131:99:1116,0,1992	20	0	1	0
chr9	131475451	131475451	C	T	exonic	PRRC2B	.	nonsynonymous SNV	PRRC2B:NM_001384818:exon16:c.C3322T:p.R1108C	.	.	402	1114	6	0	0	6	0.00268577	.	.	2826523	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	.	.	1.0	D	1.0	D	.	.	1.000	D	2.085	M	1.52	T	-0.906	T	0.200	T	0.851	3.648	18.55	6.04	2.873	2.824	19.567	0.228	0.212511825935	8.5e-05	0.000399361	0.0005	0	0.0002	0	0	0.0001	0.0015	0.0032	0.0003558	55	154602	rs373454097	0.0002	0.0002	0.0001	0.0003	0.0027	0.0002	0.0002	0.0024	0.0023	9.287e-05	0.0001	0	0	0	0.0007	4.196e-05	0.0004	0.0027	0.0001	0.0001	8.989e-05	0.0002	0.0021	9.141e-05	7.697e-05	0.0011	0.0009	2.405e-05	0	6.533e-05	0	0	0	0	0.0001	0.0005	0.0021	0.001	0.78490	D	0.002	0.79402	D	1.0	0.90584	D	0.996	0.84481	D	.	.	.	.	0.999998	0.81001	D	2.16	0.60381	M	1.52	0.30669	T	-3.83	0.72120	D	0.789	0.78546	-0.9056	0.47378	T	0.200	0.55584	T	8	0.08855179	0.15258	T	0.212512	0.87359	D	0.228	0.52768	.	.	0.456809324625	0.45303	0.42774320314757375	0.42691	0.645929378351	0.58025	0.7350679636	0.72248	T	0.360978	0.72713	T	-0.16469	0.26042	T	-0.0127071	0.69507	D	0.212889161341194	0.21104	T	0.957504	0.83996	D	0.19360755	0.41077	0.15891966	0.37088	0.19360755	0.41077	0.15891966	0.37087	-5.498	0.41849	T	.	.	0.370	0.57847	A	.	.	4.643961	0.73957	26.1	0.99931175384050763	0.99387	0.97721	0.76654	D	AEFDGBCI	0.524572	0.54770	D	0.612003954263667	0.73930	6.04763	0.591478672962543	0.74327	6.118247	0.999999999858366	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	6.04	6.04	0.98025	2.305000	0.43324	5.920000	0.51151	0.596000	0.33519	1.000000	0.71638	1.000000	0.68203	0.505000	0.29129	0.0:1.0:0.0:0.0	19.567	0.95394	493	0.76500	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1291.98	67	chr9	131475451	.	C	T	1291.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.47;DP=1735;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.19;ReadPosRankSum=0.108;SOR=0.707	GT:AD:DP:GQ:PL	0/1:55,51:106:99:1306,0,1313	20	0	1	0
chr9	131525948	131525948	C	A	exonic	UCK1	.	nonsynonymous SNV	UCK1:NM_001135954:exon5:c.G538T:p.A180S,	.	.	441	12	103	962	4	2031	0.988298	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.0	B	0.001	B	.	.	0.000	P	.	.	.	.	-1.006	T	0.084	T	.	1.509	11.00	-5.08	-1.075	-1.779	8.437	0.047	.	.	0.00359425	0.0115	0.0019	0.0029	0	0.0449	0.0153	0.0165	0.0005	0.0101616	1571	154602	rs2296957	0.0096	0.0096	0.0096	0.0095	0.0095	0.0094	0.0094	0.0093	0.0093	0.0010	0.0026	0.0129	0	0.0450	0.0040	0.0095	0.0079	0.0007	0.0100	0.0100	0.0094	0.0106	0.0126	0.0096	0.0094	0.0119	0.0117	0.0019	0.0022	0.0045	0.0130	0	0.0421	0.0102	0.0126	0.0076	0.0006	0.011	0.55530	D	0.243	0.24193	T	0.0	0.02946	B	0.001	0.04355	B	.	.	.	.	0.961213	0.81001	P	.	.	.	.	.	.	0.0	0.07008	N	0.172	0.18376	-1.0056	0.28277	T	0.084	0.32900	T	6	0.0025280416	0.00038	T	.	.	.	0.047	0.12962	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.405995	0.02114	T	-0.339041	0.40452	T	0.00859621503851041	0.00105	T	0.247575	0.03662	T	.	.	.	.	.	.	.	.	-3.789	0.20640	T	.	.	0.073	0.04599	B	.	.	-0.350826	0.02404	0.268	0.94187066689665522	0.24411	0.05572	0.11472	N	AEFDGBI	0.025031	0.01647	N	-1.132785988659	0.06068	0.2783438	-1.18764225716248	0.06115	0.2933808	0.994168486267738	0.33516	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	4.97	-5.08	0.02708	-1.771000	0.01887	-0.905000	0.06976	-2.303000	0.00321	0.001000	0.13787	0.000000	0.08366	0.763000	0.36255	0.1735:0.394:0.4325:0.0	8.437	0.31954	419	0.81524	.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.9048	62824.01	90	chr9	131525948	.	C	T,A	62824.01	.	AC=38,1;AF=0.905,0.024;AN=42;BaseQRankSum=-7.610e-01;DP=2393;ExcessHet=0.3300;FS=0.000;InbreedingCoeff=-0.0769;MLEAC=38,1;MLEAF=0.905,0.024;MQ=60.00;MQRankSum=0.00;QD=26.87;ReadPosRankSum=0.558;SOR=0.662	GT:AD:DP:GQ:PL	0/1:77,65,0:142:99:1428,0,1836,1659,2031,3690	0	17	3	0
chr9	133050814	133050814	G	A	exonic	GTF3C5	.	nonsynonymous SNV	GTF3C5:NM_001286709:exon2:c.G82A:p.E28K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.65	T	0.357	B	0.137	B	0.009	N	1.000	D	1.175	L	0.91	T	-1.036	T	0.104	T	0.277	1.971	12.55	5.16	2.387	5.544	17.619	0.113	0.0507683004165	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1397107421	3.421e-06	3.42e-06	4.085e-06	2.751e-06	0.0002	1e-06	7.3e-07	.	.	0	2.238e-05	0	0	0	0.0002	0	3.312e-05	1.16e-05	1.314e-05	1.313e-05	0	2.69e-05	0.0001	2.18e-06	8.2e-07	2.262e-05	9.08e-06	0	0	0.0001	0	0	0	0	0	0	0	0.133	0.30375	T	0.281	0.21612	T	0.357	0.33788	B	0.046	0.31615	B	0.009100	0.30522	N	0.390144	0.999881	0.50402	D	1.725	0.44537	L	0.59	0.53943	T	-1.82	0.42763	N	0.352	0.43995	-1.0361	0.18513	T	0.104	0.38267	T	10	0.28073442	0.45649	T	0.050768	0.64379	D	0.113	0.31778	.	.	0.806917269854	0.80510	0.6818712015527778	0.68126	0.442441332991	0.44207	0.507613301277	0.39889	T	0.050241	0.28537	T	-0.158399	0.27006	T	-0.382441	0.35437	T	0.371706426143646	0.27863	T	0.914409	0.70110	D	0.2134201	0.43720	0.17007254	0.39089	0.2134201	0.43720	0.17007254	0.39088	-6.159	0.47590	T	.	.	0.324	0.58416	B	.;.;.;.;.;.	.;.;.;.;.;.	3.327460	0.45789	22.2	0.99652197275237453	0.77380	0.96816	0.71093	D	AEFDBI	0.590386	0.58690	D	-0.117926324208077	0.36613	2.118626	0.00311345529789708	0.39860	2.369829	0.999999999291303	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.711	0.71501	0	.	.	5.16	5.16	0.70563	5.629000	0.67473	11.773000	0.95911	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.049000	0.15107	0.0:0.0:1.0:0.0	17.619	0.87978	962	0.08456	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	978.98	33	chr9	133050814	.	G	A	978.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.344;DP=789;ExcessHet=0.0000;FS=2.639;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.69;ReadPosRankSum=0.107;SOR=0.981	GT:AD:DP:GQ:PL	0/1:59,42:101:99:993,0,1430	20	0	1	0
chr9	133071303	133071303	G	C	exonic	CEL	.	nonsynonymous SNV	CEL:NM_001807:exon11:c.G1801C:p.A601P,	Maturity-onset diabetes of the young, type VIII, Autosomal dominant	.	115	1368	29	5	5	44	0.0140541	.	.	1184208	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.04	D	0.993	D	0.796	P	.	.	1.000	N	1.895	L	-0.45	T	-0.739	T	0.328	T	0.283	2.865	15.54	-0.24	-0.016	-0.041	0.667	0.212	.	.	.	0.4112	0	0.2	0	.	0.3333	0	0.4727	0.0015006	232	154602	rs756704908	0.0080	0.0062	0.0070	0.0089	0.0279	0.0078	0.0077	0.0266	0.0261	0.0012	0.0046	0.0171	0.0008	0.0072	0.0214	0.0057	0.0072	0.0279	0.0027	0.0039	0.0026	0.0029	0.0139	0.0024	0.0023	0.0093	0.0078	0.0005	0.0034	0.0028	0.0101	0.0008	0.0019	0	0.0031	0.0032	0.0139	0.003	0.68238	D	0.024	0.56640	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	-0.45	0.69896	T	-0.46	0.14978	N	0.12	0.11054	-0.7390	0.58504	T	0.328	0.69631	T	9	0.002461046	0.00037	T	.	.	.	0.212	0.50341	.	.	.	.	0.07351690158995682	0.07288	1.00469648732	0.74536	0.776454806328	0.78393	T	0.019292	0.15396	T	-0.399635	0.02328	T	-0.319665	0.42611	T	0.0485864028472388	0.05248	T	0.948505	0.80194	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.119	0.24599	B	.	.	2.200563	0.28064	17.67	0.9907478307719837	0.51810	0.03018	0.07894	N	AEFHCI	0.147376	0.27103	N	-0.586236619627421	0.19362	1.012727	-0.849127286812922	0.13309	0.6896853	0.117021367542883	0.16792	0.403107	0.06075	0	0.547309	0.14657	0	0.578056	0.29568	0	0.562822	0.20929	0	.	.	3.13	-0.24	0.12403	0.089000	0.14843	0.179000	0.15609	0.332000	0.19570	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.2463:0.1872:0.3758:0.1907	0.667	0.00798	962	0.08456	Mucin-like domain	.	.	.	.	.	Benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	1	0	0	1	0	0	0	0.04762	625.11	30	chr9	133071303	.	G	C	625.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-2.212e+00;DP=570;ExcessHet=0.1072;FS=2.932;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=59.43;MQRankSum=0.213;QD=10.60;ReadPosRankSum=0.461;SOR=1.769	GT:AD:DP:GQ:PL	0/1:17,13:30:99:352,0,562	19	0	2	0
chr9	133412859	133412859	G	A	exonic	REXO4	.	nonsynonymous SNV	REXO4:NM_001279350:exon3:c.C224T:p.A75V	.	.	425	1089	8	0	0	8	0.00365965	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.12	T	0.816	P	0.085	B	0.000	D	1.000	D	2.165	M	2.01	T	-0.981	T	0.076	T	0.718	4.094	21.1	5.13	2.395	7.099	17.557	0.154	0.0287614879275	7.7e-05	0.000998403	0.0008	0	0	0	0	4.511e-05	0.0022	0.0058	0.0007244	112	154602	rs139090649	0.0005	0.0005	0.0003	0.0006	0.0052	0.0005	0.0004	0.0048	0.0046	2.987e-05	4.472e-05	0	2.519e-05	0	0.0002	0.0002	0.0003	0.0052	0.0002	0.0002	0.0001	0.0003	0.0046	0.0002	0.0001	0.0031	0.0026	4.81e-05	0	0	0	0	0	0	0.0001	0.0005	0.0046	0.057	0.37966	T	0.099	0.92824	T	0.816	0.45573	P	0.085	0.29395	B	0.000000	0.84330	D	0.000000	1	0.81001	D	1.67	0.42885	L	2.01	0.28189	T	-2.63	0.56466	D	0.428	0.46742	-0.9808	0.34817	T	0.076	0.30645	T	10	0.008217901	0.00186	T	0.028761	0.51384	D	0.154	0.40340	.	.	0.661333968228	0.65849	0.7696014770040387	0.76909	0.292443378065	0.31661	0.454005658627	0.32492	T	0.113201	0.43006	T	-0.286375	0.10002	T	-0.182905	0.56254	T	0.0555135360597435	0.06443	T	0.760924	0.38803	T	0.3463074	0.56778	0.31109592	0.57117	0.3463074	0.56778	0.31109592	0.57116	-9.366	0.70022	D	.	.	0.234	0.47600	B	.;.	.;.	4.786944	0.77651	26.7	0.9987822158636005	0.95491	0.96337	0.68646	D	AEFBCI	0.786355	0.71646	D	0.417084493693013	0.62360	4.450792	0.480800233503021	0.66717	4.988826	0.999999999999896	0.74766	0.706548	0.73137	0	0.697927	0.68747	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	5.13	5.13	0.69729	7.216000	0.77471	9.797000	0.81675	0.672000	0.70159	1.000000	0.71638	1.000000	0.68203	0.962000	0.52141	0.0:0.0:1.0:0.0	17.557	0.87794	911	0.21964	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2083.98	38	chr9	133412859	.	G	A	2083.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.863;DP=898;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.51;ReadPosRankSum=-1.199e+00;SOR=0.716	GT:AD:DP:GQ:PL	0/1:94,87:181:99:2098,0,2206	20	0	1	0
chr9	135702317	135702317	G	C	exonic	KCNT1	.	nonsynonymous SNV	KCNT1:NM_001272003:exon1:c.G59C:p.G20A	Epilepsy, nocturnal frontal lobe, 5, Autosomal dominant;Epileptic encephalopathy, early infantile, 14, Autosomal dominant	.	9	1437	72	4	0	80	0.0270819	.	.	134812	Inborn_genetic_diseases|Developmental_and_epileptic_encephalopathy,_14|Autosomal_dominant_nocturnal_frontal_lobe_epilepsy_5|not_specified|not_provided	MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0013989,MedGen:C3554195,OMIM:614959,Orphanet:293181|MONDO:MONDO:0014002,MedGen:C3554306,OMIM:615005,Orphanet:98784|MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.95	T	0.0	B	0.0	B	.	.	0.998	N	0	N	2.04	T	-0.967	T	0.010	T	0.058	-0.083	3.593	0.96	0.344	0.218	6.007	0.048	.	0.0052	0.00479233	0.0066	0.0012	0.0029	0.0017	0.0003	0.0073	0.0085	0.0144	0.0056985	881	154602	rs146292575	0.0081	0.0081	0.0079	0.0084	0.0298	0.0080	0.0080	0.0261	0.0247	0.0017	0.0036	0.0155	0.0145	0.0003	0.0298	0.0079	0.0079	0.0147	0.0052	0.0052	0.0051	0.0053	0.0162	0.0049	0.0048	0.0133	0.0122	0.0012	0.0099	0.0046	0.0150	0.0037	0.0004	0.0340	0.0072	0.0052	0.0162	0.332	0.13045	T	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	0.999999	0.08975	N	.	.	.	2.04	0.21119	T	-0.95	0.25332	N	0.149	0.18103	-0.9665	0.37914	T	0.010	0.03627	T	9	0.0032934844	0.00057	T	.	.	.	0.048	0.13305	.	.	0.0297737177859	0.01360	0.08820121728783718	0.08753	0.681807175389	0.60070	0.618645429611	0.55538	T	.	.	.	-0.703364	0.00035	T	-0.770786	0.02742	T	0.00255485869689805	0.00027	T	0.507849	0.16117	T	.	.	.	.	.	.	.	.	-3.531	0.17756	T	.	.	0.077	0.10691	B	.;.;.	.;.;.	0.467947	0.08376	5.129	0.72169361813330213	0.09880	0.03696	0.08973	N	AEFDGBCI	0.030864	0.03186	N	-1.24565565112622	0.04357	0.1964937	-1.26783242703793	0.04872	0.2308777	0.999982603703969	0.51787	0.525926	0.21836	0	0.615948	0.52940	0	0.606814	0.37721	0	0.691587	0.68394	0	.	.	1.9	0.96	0.18753	-0.571000	0.05979	-0.124000	0.11690	0.671000	0.69459	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.4195:0.5805:0.0	6.007	0.18781	671	0.60868	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.07143	6633.68	34	chr9	135702317	.	G	C	6633.68	.	AC=3;AF=0.071;AN=42;BaseQRankSum=-8.320e-01;DP=1226;ExcessHet=0.3300;FS=1.104;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=13.01;ReadPosRankSum=0.420;SOR=0.624	GT:AD:DP:GQ:PL	0/1:81,108:189:99:2397,0,1808	18	0	3	0
chr9	136383545	136383545	-	GCTGCT	exonic	SNAPC4	.	nonframeshift insertion	SNAPC4:NM_003086:exon15:c.1623_1624insAGCAGC:p.S542_E543insSS,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2143	6548.32	36	chr9	136383542	.	CGCT	C,CGCTGCTGCT	6548.32	.	AC=8,1;AF=0.190,0.024;AN=42;BaseQRankSum=-3.600e-02;DP=974;ExcessHet=0.9430;FS=6.521;InbreedingCoeff=0.0101;MLEAC=8,1;MLEAF=0.190,0.024;MQ=59.99;MQRankSum=0.00;QD=16.66;ReadPosRankSum=-6.600e-02;SOR=0.992	GT:AD:DP:GQ:PL	0/1:26,24,0:50:99:913,0,1012,991,1085,2076	13	1	6	0
chr9	137213809	137213809	G	A	exonic	NDOR1	.	nonsynonymous SNV	NDOR1:NM_001144026:exon4:c.G341A:p.R114Q	.	.	416	1104	2	0	0	2	0.000904977	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.15	T	0.998	D	0.955	D	0.000	N	0.999	D	1.135	L	0.3	T	-0.746	T	0.227	T	0.225	3.964	20.3	4.23	2.098	4.409	7.055	0.138	0.0545086770463	0.0015	0.000599042	0.0012	0.0002	0.0011	0	0.0002	0.0017	0	0.0011	0.0011966	185	154602	rs139188702	0.0018	0.0018	0.0018	0.0017	0.0021	0.0017	0.0017	0.0020	0.0020	0.0003	0.0011	0.0003	5.041e-05	0.0005	0.0007	0.0021	0.0016	0.0011	0.0013	0.0013	0.0014	0.0011	0.0025	0.0011	0.0011	0.0019	0.0016	0.0006	0	0.0025	0	0	0.0003	0	0.0019	0.0009	0.0004	0.009	0.57480	D	0.022	0.58613	D	0.997	0.70673	D	0.925	0.65999	D	0.000067	0.52346	N	0.121518	0.999332	0.46701	D	1.435	0.35949	L	0.3	0.58755	T	-2.44	0.53898	N	0.498	0.53269	-0.7455	0.58170	T	0.227	0.59196	T	10	0.030026317	0.01129	T	0.054509	0.65882	D	0.138	0.37187	.	.	0.708829442706	0.70629	0.4200894549873495	0.41924	0.334934122327	0.35502	0.567457079887	0.48318	T	0.027	0.20077	T	-0.402267	0.02237	T	-0.357869	0.38298	T	0.0886291638016701	0.11054	T	0.975069	0.96869	D	0.56760263	0.70928	0.42712018	0.66467	0.56760263	0.70930	0.42712018	0.66467	-6.422	0.51531	T	.	.	0.184	0.43842	B	.;.;.;.	.;.;.;.	4.552812	0.71668	25.7	0.99922659700644501	0.98852	0.46346	0.27739	N	AEFDGBHCI	0.179511	0.30680	N	0.293772523348845	0.55833	3.747349	0.324910592669107	0.57008	3.865186	0.999999999649751	0.74766	0.712529	0.81865	0	0.702456	0.74545	0	0.779548	0.98927	0	0.691587	0.68394	0	.	.	4.23	4.23	0.49319	5.440000	0.66312	8.604000	0.77740	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.834000	0.39329	0.2008:0.0:0.7992:0.0	7.055	0.24274	988	0.01987	.;.;.;Flavodoxin/nitric oxide synthase|Flavodoxin/nitric oxide synthase	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	762.98	34	chr9	137213809	.	G	A	762.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.048;DP=775;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.22;ReadPosRankSum=1.88;SOR=0.719	GT:AD:DP:GQ:PL	0/1:36,32:68:99:777,0,873	20	0	1	0
chr9	137577597	137577597	T	C	exonic	DPH7	.	nonsynonymous SNV	DPH7:NM_001346370:exon2:c.A160G:p.M54V	.	.	431	1090	1	0	0	1	0.000458505	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.29	T	0.0	B	0.0	B	0.001	N	1.000	N	0.345	N	2.79	T	-0.993	T	0.016	T	0.043	-0.404	2.109	-2.22	-0.033	-0.753	2.988	0.002	0.00388408474436	.	.	0.0002	0	8.654e-05	0	0	1.503e-05	0.0033	0.0011	0.0001488	23	154602	rs755455556	8.145e-05	8.14e-05	2.451e-05	0.0001	0.0013	6.938e-05	6.49e-05	0.0011	0.0010	2.989e-05	0	0	0	0	0.0003	0	4.97e-05	0.0013	6.567e-05	6.562e-05	2.57e-05	0.0001	0.0019	3.515e-05	2.615e-05	0.0010	0.0007	2.407e-05	0	0	0	0	0	0	0	0	0.0019	0.485	0.08115	T	0.527	0.10209	T	0.0	0.02946	B	0.0	0.01387	B	0.001297	0.00765	N	3.790310	1	0.08975	N	0.205	0.09354	N	2.79	0.11189	T	-0.04	0.07590	N	0.033	0.00882	-0.9927	0.31906	T	0.016	0.06473	T	10	0.011421859	0.00250	T	0.003884	0.09117	T	0.002	0.00045	0.23	0.15705	0.0920862733494	0.08535	0.20981819397675333	0.20897	0.115811649598	0.13064	0.381251037121	0.22433	T	0.024727	0.18628	T	-0.718856	0.00028	T	-0.840742	0.01087	T	0.0368303237056353	0.03126	T	0.278472	0.04815	T	0.038681377	0.05198	0.052242592	0.08568	0.038681377	0.05198	0.052242592	0.08567	-2.178	0.03935	T	.	.	0.069	0.03093	B	.	.	-0.053892	0.03926	0.869	0.4770452445086677	0.03922	0.02666	0.07285	N	AEFDGBCI	0.036783	0.04956	N	-1.42696060417989	0.02404	0.1061179	-1.45435741882538	0.02731	0.1261373	0.999992691112703	0.74766	0.542737	0.22433	0	0.587265	0.34161	0	0.685571	0.62057	0	0.627883	0.49187	0	.	.	4.42	-2.22	0.06560	-0.631000	0.05593	0.065000	0.14184	-0.185000	0.09859	0.000000	0.06391	0.000000	0.08366	0.010000	0.09038	0.1061:0.4471:0.1837:0.2631	2.988	0.05610	988	0.01987	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	846.98	33	chr9	137577597	.	T	C	846.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.319;DP=766;ExcessHet=0.0000;FS=5.193;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.23;ReadPosRankSum=0.665;SOR=0.264	GT:AD:DP:GQ:PL	0/1:33,31:64:99:861,0,879	20	0	1	0
chr9	138023729	138023729	A	0	exonic	CACNA1B	.	.	.	.	.	350	755	29	2	386	419	0.0213869	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3571	1289.72	63	chr9	138023729	.	A	G,*	1289.72	.	AC=2,13;AF=0.048,0.310;AN=42;BaseQRankSum=-4.590e-01;DP=1294;ExcessHet=8.1482;FS=0.000;InbreedingCoeff=-0.3481;MLEAC=2,13;MLEAF=0.048,0.310;MQ=60.00;MQRankSum=0.00;QD=1.32;ReadPosRankSum=2.42;SOR=0.699	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:27,0,20:47:99:.:.:719,800,1913,0,1113,1053	7	0	2	0
chr10	825249	825249	T	C	exonic	LARP4B	.	nonsynonymous SNV	LARP4B:NM_001351277:exon13:c.A1300G:p.S434G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.32	T	0.034	B	0.012	B	0.000	D	1.000	D	0.69	N	1.42	T	-1.076	T	0.048	T	0.262	1.919	12.37	5.57	2.133	5.075	10.134	0.023	0.00390173934956	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.259	0.16628	T	0.094	0.39645	T	0.034	0.20480	B	0.012	0.16012	B	0.000000	0.84330	D	0.124272	0.999909	0.50806	D	1.83	0.48079	L	1.42	0.33189	T	-1.32	0.32991	N	0.378	0.42149	-1.0760	0.08144	T	0.048	0.20553	T	10	0.09752631	0.17572	T	0.003902	0.09180	T	0.023	0.04649	0.235	0.16457	0.189391138174	0.18552	0.5409899109821052	0.54023	0.296725836107	0.32059	0.615102767944	0.55037	T	0.072244	0.34406	T	-0.147588	0.28690	T	-0.449777	0.27720	T	0.606496572494507	0.36659	D	0.835216	0.50504	T	0.1529754	0.34699	0.12790082	0.30779	0.1529754	0.34699	0.12790082	0.30779	-5.445	0.41350	T	.	.	0.098	0.19679	B	.;.	.;.	3.996231	0.58848	24.0	0.98635954636874601	0.43987	0.96367	0.68792	D	AEFDBI	0.396291	0.47282	N	-0.0822847856859552	0.38168	2.231465	0.131294021325016	0.46157	2.866445	0.999198281609489	0.38711	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.57	5.57	0.84021	5.068000	0.64193	7.942000	0.75525	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0743:0.0:0.9257	10.134	0.41870	884	0.28482	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.381	4683.86	92	chr10	825249	.	T	C	4683.86	.	AC=16;AF=0.381;AN=42;BaseQRankSum=-3.067e+00;DP=2503;ExcessHet=20.9642;FS=199.373;InbreedingCoeff=-0.6154;MLEAC=16;MLEAF=0.381;MQ=60.00;MQRankSum=0.00;QD=2.22;ReadPosRankSum=2.13;SOR=13.018	GT:AD:DP:GQ:PL	0/1:68,34:102:99:236,0,1139	5	0	16	0
chr10	885675	885675	T	C	exonic	LARP4B	.	nonsynonymous SNV	LARP4B:NM_001351277:exon2:c.A47G:p.Q16R	.	.	424	1097	1	0	0	1	0.000455581	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.999	D	0.993	D	0.000	D	1.000	D	1.04	L	1.16	T	-0.861	T	0.154	T	0.534	4.670	25.8	5.37	2.019	6.520	14.369	0.216	0.0144890179907	.	.	2.472e-05	0	0	0	0	2.999e-05	0.0011	0	1.94e-05	3	154602	rs753623530	1.231e-05	1.231e-05	4.084e-06	2.063e-05	0.0003	7.7e-06	6.35e-06	6.092e-05	2.521e-05	0	0	0	0	0	0.0003	8.094e-06	6.623e-05	3.478e-05	6.572e-06	6.567e-06	1.285e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.0	0.91255	D	0.0	0.92824	D	0.999	0.77913	D	0.993	0.81110	D	0.000000	0.84330	D	0.000000	0.999997	0.58761	D	2.39	0.68882	M	1.16	0.38073	T	-1.4	0.74051	N	0.701	0.70878	-0.8611	0.51184	T	0.154	0.48498	T	10	0.2988422	0.47439	T	0.014489	0.34641	T	0.216	0.50959	0.215	0.13498	0.396617757867	0.39272	0.35269387461357443	0.35183	0.528193269537	0.50417	0.509938538074	0.40213	T	0.04208	0.36161	T	-0.0676522	0.41701	T	-0.2381	0.50983	T	0.866982877254486	0.51702	D	0.850115	0.54290	D	0.49682346	0.66908	0.46485326	0.68941	0.49682346	0.66909	0.46485326	0.68941	-4.609	0.32285	T	.	.	0.155	0.55876	B	.;.;.;.	.;.;.;.	4.665753	0.74522	26.2	0.99832789452148452	0.91456	0.97867	0.77726	D	AEFBI	0.598095	0.59163	D	0.620029479594246	0.74443	6.13353	0.635600017335516	0.77543	6.699581	0.999975257675431	0.50053	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.37	5.37	0.76949	6.702000	0.74451	7.915000	0.74225	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.978000	0.57271	0.0:0.0:0.0:1.0	14.369	0.66390	564	0.70960	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1866.98	34	chr10	885675	.	T	C	1866.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.055e+00;DP=861;ExcessHet=0.0000;FS=1.259;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.05;ReadPosRankSum=-1.302e+00;SOR=0.572	GT:AD:DP:GQ:PL	0/1:75,80:155:99:1881,0,1848	20	0	1	0
chr10	1233730	1233730	C	T	exonic	ADARB2	.	nonsynonymous SNV	ADARB2:NM_018702:exon6:c.G1477A:p.A493T,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.995	D	0.000	D	1.000	D	3.19	M	-3.89	D	1.083	D	0.943	D	0.723	4.306	22.6	5.54	2.592	7.699	19.473	0.916	0.511058520118	7.7e-05	.	0.0001	0	0	0	0	0.0002	0.0022	0.0003	0.0001164	18	154602	rs200268465	8.005e-05	8.209e-05	7.761e-05	8.252e-05	0.0003	6.802e-05	6.356e-05	0.0002	0.0002	0.0002	2.238e-05	0	2.52e-05	0	0	7.015e-05	6.625e-05	0.0003	0.0001	0.0001	0.0001	8.101e-05	0.0002	7.111e-05	5.764e-05	9.057e-05	7.019e-05	0.0001	0	0	0	0	0	0	0.0002	0	0	0.001	0.78490	D	0.003	0.76473	D	1.0	0.90584	D	0.995	0.83170	D	0.000000	0.84330	D	0.052067	1	0.81001	D	3.57	0.93460	H	-3.89	0.95984	D	-3.56	0.68880	D	0.81	0.80572	1.083	0.98984	D	0.943	0.98132	D	10	0.95369303	0.94717	D	0.511059	0.95302	D	0.916	0.97814	.	.	0.728025256924	0.72561	0.7511835446714318	0.75065	0.895387356478	0.70438	0.574802398682	0.49355	T	0.821319	0.95634	D	0.183068	0.72324	D	0.304623	0.88409	D	0.91094845533371	0.56634	D	0.999656	0.99877	D	0.77695066	0.82467	0.75624996	0.85595	0.77695066	0.82469	0.75624996	0.85596	-10.537	0.77060	D	.	.	0.597	0.68772	P	.	.	4.721989	0.75965	26.4	0.99920497933077657	0.98721	0.98898	0.88334	D	AEFDBI	0.939028	0.93906	D	0.815273719184819	0.87053	9.086761	0.714655229954301	0.83491	8.035636	0.999999999999601	0.74766	0.653281	0.48532	0	0.633656	0.55848	0	0.675528	0.61593	0	0.613276	0.41899	0	.	.	5.54	5.54	0.82907	7.693000	0.83472	7.632000	0.62779	0.587000	0.30956	1.000000	0.71638	1.000000	0.68203	0.166000	0.20848	0.0:1.0:0.0:0.0	19.473	0.94963	814	0.42100	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	0	0	0	0	0	0	0	0	0	0	0	0.02381	1354.98	38	chr10	1233730	.	C	T	1354.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.860;DP=880;ExcessHet=0.0000;FS=1.461;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.68;ReadPosRankSum=-2.243e+00;SOR=0.840	GT:AD:DP:GQ:PL	0/1:59,57:116:99:1369,0,1332	20	0	1	0
chr10	5731083	5731083	A	G	exonic	TASOR2	.	nonsynonymous SNV	TASOR2:NM_017782:exon11:c.A1084G:p.K362E	.	.	.	.	.	.	.	.	.	.	.	3324417	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.23	T	0.89	P	0.132	B	0.009	N	0.997	N	2.175	M	3.32	T	-0.970	T	0.016	T	0.376	2.719	15.05	3.48	1.018	1.743	8.230	0.067	0.00528934843132	0.0003	0.000399361	0.0002	0	0	0	0	0.0003	0.0011	0	0.0001746	27	154602	rs189072201	0.0002	0.0002	0.0002	0.0002	0.0002	0.0001	0.0001	0.0002	0.0002	2.987e-05	2.236e-05	0	0	0	0	0.0002	0.0001	0	0.0002	0.0002	0.0003	0.0001	0.0003	0.0001	0.0001	0.0002	0.0002	7.215e-05	0	0.0003	0	0	0	0	0.0003	0	0	0.005	0.63226	D	0.037	0.51737	D	0.89	0.48942	P	0.132	0.33005	B	0.009113	0.30512	N	0.285343	0.997068	0.22804	N	1.935	0.51832	L	3.32	0.06214	T	-1.64	0.39314	N	0.25	0.28264	-0.9697	0.37262	T	0.016	0.06664	T	10	0.047776043	0.04141	T	0.005289	0.13525	T	0.067	0.19503	.	.	0.138757226776	0.13463	0.3067172792578228	0.30584	0.25835002658	0.28389	0.396445125341	0.24574	T	0.03618	0.24004	T	-0.370903	0.03548	T	-0.464576	0.26101	T	0.126402252005831	0.15046	T	0.593841	0.21938	T	0.11652756	0.27483	0.11879577	0.28676	0.11652756	0.27482	0.11879577	0.28675	-4.137	0.25833	T	.	.	0.174	0.38099	B	.;.	.;.	2.754364	0.36112	20.2	0.99734811417627767	0.83047	0.73906	0.36150	D	AEBI	0.041321	0.06266	N	-0.0452270875425153	0.39816	2.354199	-0.068299704297131	0.36708	2.139803	0.508420635648329	0.20999	0.706548	0.73137	0	0.653731	0.59785	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.78	3.48	0.38946	1.372000	0.33866	3.381000	0.38003	0.756000	0.94297	0.785000	0.29533	0.998000	0.33993	0.146000	0.20164	0.843:0.0:0.157:0.0	8.230	0.30750	652	0.62785	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1166.98	43	chr10	5731083	.	A	G	1166.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-9.000e-02;DP=830;ExcessHet=0.0000;FS=0.758;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.41;ReadPosRankSum=0.530;SOR=0.613	GT:AD:DP:GQ:PL	0/1:46,48:94:99:1181,0,1160	20	0	1	0
chr10	19352187	19352187	T	G	exonic	MALRD1	.	nonsynonymous SNV	MALRD1:NM_001142308:exon26:c.T4331G:p.V1444G,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.000	D	.	.	4.4	T	-0.906	T	0.011	T	0.561	3.002	16.01	4.37	1.105	2.374	9.088	0.125	0.0204777294051	.	0.000998403	0.0002	0.0031	0	0	0	0	0	0.0001	5.82e-05	9	154602	rs149425848	1.716e-05	1.642e-05	8.467e-06	2.61e-05	0.0005	1.161e-05	9.76e-06	0.0003	0.0002	0.0005	2.801e-05	0	0	0	0.0004	3.707e-06	1.723e-05	1.262e-05	6.575e-05	6.563e-05	2.573e-05	0.0001	0.0002	3.519e-05	2.618e-05	0.0001	8.446e-05	0.0002	0	0	0	0	0	0	0	0.0005	0	0.012	0.54683	D	0.001	0.83351	D	.	.	.	.	.	.	.	.	.	.	0.999606	0.47795	D	.	.	.	4.4	0.02215	T	-4.85	0.81107	D	0.391	0.43223	-0.9057	0.47366	T	0.011	0.04088	T	5	0.02008918	0.00458	T	0.020478	0.43083	T	0.125	0.34456	.	.	0.492681238296	0.48903	0.7889964366897485	0.78851	.	.	.	.	.	.	.	.	-0.333852	0.05825	T	-0.389371	0.34625	T	0.562930583953857	0.34966	D	0.505949	0.15996	T	0.14344892	0.32968	0.29304236	0.55333	0.14344892	0.32968	0.29304236	0.55332	-14.404	0.94295	D	.	.	0.185	0.45186	B	.;.	.;.	3.244007	0.44290	21.9	0.99637190104243512	0.76449	0.95881	0.66555	D	AEFDI	0.630585	0.61188	D	0.0731440250724017	0.45211	2.781606	0.104876586159585	0.44798	2.754603	0.00410375068181164	0.10418	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.5	4.37	0.51830	2.359000	0.43797	3.232000	0.36914	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.953000	0.50222	0.0:0.1961:0.0:0.8039	9.088	0.35757	957	0.09725	MAM domain|MAM domain|MAM domain|MAM domain;MAM domain|MAM domain|MAM domain|MAM domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1984.98	39	chr10	19352187	.	T	G	1984.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.685e+00;DP=1014;ExcessHet=0.0000;FS=4.298;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.81;ReadPosRankSum=-5.090e-01;SOR=0.425	GT:AD:DP:GQ:PL	0/1:55,79:134:99:1999,0,1399	20	0	1	0
chr10	29533429	29533429	T	C	exonic	SVIL	.	nonsynonymous SNV	SVIL:NM_021738:exon8:c.A938G:p.E313G,	.	.	425	1032	62	3	0	68	0.0318949	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.999	D	0.922	D	0.000	D	1.000	D	2.215	M	0.83	T	-0.583	T	0.277	T	0.463	4.549	24.6	5.85	2.233	6.714	16.230	0.161	.	0.0021	0.00379393	0.0052	0.0006	0.0009	0.0002	0.0006	0.0030	0.0033	0.0248	0.0045795	708	154602	rs138539716	0.0035	0.0035	0.0027	0.0042	0.0249	0.0034	0.0034	0.0240	0.0237	0.0004	0.0008	0.0020	7.561e-05	0.0008	0.0168	0.0022	0.0037	0.0249	0.0023	0.0023	0.0020	0.0026	0.0261	0.0021	0.0020	0.0224	0.0210	0.0002	0	0.0018	0.0014	0	0.0002	0.0102	0.0026	0.0019	0.0261	0.0	0.91255	D	0.019	0.59159	D	0.999	0.77913	D	0.922	0.65739	D	0.000035	0.55875	D	0.120676	0.999815	0.81001	D	2.965	0.85198	M	0.83	0.47815	T	-2.76	0.58569	D	0.672	0.67995	-0.5825	0.65518	T	0.277	0.64845	T	9	0.006445855	0.00146	T	.	.	.	0.161	0.41658	.	.	0.29966067498	0.29572	0.32499134559339155	0.32412	0.941272911634	0.72213	0.544726490974	0.45114	T	0.114264	0.43194	T	-0.326568	0.06375	T	-0.222944	0.52452	T	0.0506692524194072	0.05618	T	0.909109	0.67839	D	0.4057002	0.61126	0.45622653	0.68392	0.38305208	0.59537	0.45176348	0.68105	-4.169	0.26519	T	.	.	0.523	0.65599	A	.;.	.;.	4.217554	0.63767	24.6	0.99928286144631806	0.99222	0.98525	0.83712	D	AEFBI	0.791987	0.72041	D	0.720763892831633	0.80992	7.419273	0.719964135676973	0.83897	8.143189	0.999999999870866	0.74766	0.740787	0.97801	0	0.573888	0.26702	0	0.767554	0.98243	0	0.635551	0.53088	0	.	.	5.85	5.85	0.93663	7.074000	0.76478	6.216000	0.55070	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:0.0:0.0:1.0	16.230	0.82154	968	0.07033	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.07143	2167.68	42	chr10	29533429	.	T	C	2167.68	.	AC=3;AF=0.071;AN=42;BaseQRankSum=0.505;DP=907;ExcessHet=0.3300;FS=1.958;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=11.59;ReadPosRankSum=0.091;SOR=0.874	GT:AD:DP:GQ:PL	0/1:37,34:71:99:991,0,990	18	0	3	0
chr10	38056360	38056360	G	A	exonic	ZNF33A	.	nonsynonymous SNV	ZNF33A:NM_001278170:exon4:c.G2254A:p.E752K	.	.	12	1506	3	1	0	5	0.00165728	.	.	2314907	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.02	D	0.999	D	0.922	D	0.004	N	0.668	N	1.035	L	1.86	T	-1.004	T	0.083	T	0.43	2.627	14.75	1.92	1.044	3.481	9.408	0.069	0.00108794703943	7.7e-05	.	0.0001	0	0	0	0	0.0002	0	0.0001	9.06e-05	14	154602	rs368504756	9.577e-05	9.577e-05	7.759e-05	0.0001	0.0007	8.242e-05	7.783e-05	0.0002	0.0001	2.988e-05	0.0001	0	0	0	0.0007	9.803e-05	0.0002	0.0001	0.0001	0.0001	0.0002	9.398e-05	0.0002	9.737e-05	8.252e-05	0.0001	0.0001	2.406e-05	0	0.0002	0	0	0	0	0.0002	0.0009	0.0002	0.026	0.65419	D	0.003	0.92824	D	0.936	0.52359	P	0.523	0.48316	P	0.004022	0.34196	N	0.000000	0.668418	0.30386	N	0.99	0.25021	L	1.86	0.24285	T	-3.52	0.68412	D	0.418	0.47765	-1.0042	0.28696	T	0.083	0.32614	T	10	0.16687062	0.31149	T	0.001088	0.01287	T	0.069	0.20116	.	.	0.276898752692	0.27294	0.0729818555879539	0.07235	0.217102352539	0.24225	0.568452000618	0.48458	T	0.083645	0.37101	T	-0.311736	0.07597	T	-0.40085	0.33286	T	0.21594536054438	0.21260	T	0.842416	0.52631	T	0.19258413	0.40933	0.20494466	0.44642	0.19258413	0.40933	0.20494466	0.44641	-8.469	0.64224	D	.	.	0.313	0.60878	B	.;.;.;.;.	.;.;.;.;.	3.612596	0.51079	23.0	0.9963799673242445	0.76449	0.15234	0.18811	N	AEFGBCI	0.279450	0.39349	N	0.078634102367232	0.45468	2.802749	0.0122845754374739	0.40285	2.401694	0.992588275745991	0.32893	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	1.92	1.92	0.24912	2.601000	0.45912	1.456000	0.26643	0.507000	0.23093	0.998000	0.41325	0.915000	0.28207	0.822000	0.38733	0.0:0.0:1.0:0.0	9.408	0.37636	675	0.60470	Zinc finger C2H2-type;Zinc finger C2H2-type;.;.;Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1557.98	39	chr10	38056360	.	G	A	1557.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.12;DP=994;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.32;ReadPosRankSum=-2.540e-01;SOR=0.682	GT:AD:DP:GQ:PL	0/1:63,54:117:99:1572,0,1756	20	0	1	0
chr10	46287291	46287291	A	G	exonic	ANTXRL	.	nonsynonymous SNV	ANTXRL:NM_001278688:exon1:c.A29G:p.Y10C,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00707434235237	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1202158855	1.445e-05	1.368e-05	1.427e-05	1.465e-05	5.049e-05	9.44e-06	7.67e-06	1.679e-05	9.94e-06	0	0	0	2.798e-05	0	0	9.27e-06	8.635e-05	5.049e-05	6.575e-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	.	.	.	1.0	0.04720	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	-0.55	0.02420	N	.	.	.	.	.	.	0.043	0.04307	.	.	.	.	.	.	.	0.04701388	0.03964	T	0.007074	0.18731	T	.	.	.	.	0.141422826196	0.13715	0.7493181341140666	0.74877	.	.	.	.	.	4.7E-4	0.00170	T	-0.407293	0.02072	T	-0.695046	0.06100	T	.	.	.	0.451655	0.12799	T	0.03572179	0.04258	0.052835636	0.08782	0.03572179	0.04257	0.052835636	0.08781	-1.606	0.01996	T	.	.	0.047	0.00248	B	.;.	.;.	0.442371	0.08128	4.855	0.35625716914135502	0.02246	0.00196	0.01131	N	AEFDBCI	0.013482	0.00181	N	.	.	.	.	.	.	0.742521553551769	0.23235	0.497415	0.19182	0	0.59043	0.45803	0	0.578056	0.29568	0	0.542086	0.14980	0	.	.	4.26	-1.16	0.09181	0.276000	0.18478	-20.000000	0.00162	-1.817000	0.00605	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.27:0.1553:0.4156:0.1591	1.070	0.01519	878	0.29785	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	535.98	33	chr10	46287291	.	A	G	535.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.83;DP=749;ExcessHet=0.0000;FS=1.122;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.51;ReadPosRankSum=1.66;SOR=0.470	GT:AD:DP:GQ:PL	0/1:41,22:63:99:550,0,1095	20	0	1	0
chr10	47523435	47523435	A	G	exonic	AGAP9	.	nonsynonymous SNV	AGAP9:NM_001190810:exon1:c.T92C:p.I31T,	.	.	440	1064	17	1	0	19	0.00884956	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1380521698	0.0019	0.0020	0.0016	0.0022	0.0153	0.0019	0.0018	0.0124	0.0113	0.0002	0.0012	0.0085	0	0.0002	0.0153	0.0013	0.0026	0.0093	0.0015	0.0016	0.0016	0.0014	0.0110	0.0014	0.0013	0.0086	0.0078	0.0002	0	0.0008	0.0076	0.0004	0.0002	0	0.0018	0.0020	0.0110	0.084	0.32929	T	0.045	0.49390	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-2.49	0.89145	D	-0.84	0.22944	N	0.194	0.21319	.	.	.	.	.	.	.	0.024654835	0.00686	T	.	.	.	.	.	.	.	0.428516003163	0.42472	0.0380011833725335	0.03746	.	.	.	.	.	.	.	.	0.319574	0.84442	D	0.221269	0.84238	D	.	.	.	0.549445	0.18903	T	.	.	.	.	.	.	.	.	-2.87	0.08847	T	.	.	0.257	0.49177	B	.	.	1.104214	0.14890	11.41	0.67376507974388811	0.08336	0.01099	0.04035	N	AEFI	.	.	.	.	.	.	.	.	.	1.09790265576154E-6	0.01202	0.164513	0.03853	0	0.195528	0.04277	0	0.183335	0.04453	0	0.101684	0.03063	0	0.116056	0.24210	1.38	0.143	0.14116	0.355000	0.19902	0.811000	0.21752	0.364000	0.20138	0.110000	0.22992	0.005000	0.19230	0.009000	0.08673	0.7372:0.0:0.2628:0.0	3.227	0.06337	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	211.15	26	chr10	47523435	.	A	G	211.15	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.230e-01;DP=530;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0086;MLEAC=1;MLEAF=0.024;MQ=25.77;MQRankSum=0.560;QD=7.54;ReadPosRankSum=1.13;SOR=0.551	GT:AD:DP:GQ:PL	0/1:18,10:28:99:225,0,413	20	0	1	0
chr10	48820289	48820289	G	A	exonic	WDFY4	.	nonsynonymous SNV	WDFY4:NM_020945:exon33:c.G5561A:p.G1854D,	.	.	.	.	.	.	.	.	.	.	.	2390928	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	.	.	0.077	B	0.017	B	0.734	N	1.000	N	1.61	L	0.44	T	-1.005	T	0.121	T	0.39	2.032	12.75	-0.812	0.032	0.011	5.721	0.075	0.0272072974767	.	0.000399361	0.0002	0	0	0.0016	0	0	0	0.0003	3.23e-05	5	154602	rs533520064	5.645e-05	5.472e-05	5.076e-05	6.23e-05	0.0005	4.607e-05	4.264e-05	0.0004	0.0004	0	2.801e-05	0	0.0003	0	0.0004	1.205e-05	0.0001	0.0005	4.597e-05	4.594e-05	5.141e-05	4.028e-05	0.0008	2.108e-05	1.526e-05	0.0003	0.0002	0	0	0	0	0.0006	0	0	0	0	0.0008	0.067	0.35918	T	0.005	0.72224	D	0.006	0.13644	B	0.006	0.12133	B	0.733676	0.06385	N	1.163110	1	0.18198	N	2.35	0.67516	M	0.44	0.56609	T	-1.54	0.37375	N	0.1	0.08227	-1.0050	0.28457	T	0.121	0.42036	T	9	0.011204213	0.00246	T	0.027207	0.50045	D	0.075	0.21907	0.341	0.33302	0.168933306366	0.16529	0.20272514725573718	0.20189	.	.	0.289946258068	0.08914	T	0.004497	0.03907	T	-0.313578	0.07437	T	-0.372053	0.36649	T	0.0241797102727185	0.01168	T	0.517048	0.16713	T	0.06658441	0.14340	0.075429745	0.16604	0.06658441	0.14339	0.075429745	0.16604	-4.294	0.28093	T	.	.	0.075	0.05360	B	.	.	0.395648	0.07671	4.341	0.93212358930051631	0.22885	0.08640	0.14541	N	AEFBCI	0.073925	0.14801	N	-0.891813599388724	0.11035	0.530466	-0.95541914005516	0.10797	0.5461666	0.00254758655338125	0.09519	0.67177	0.52595	0	0.702456	0.74545	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.56	-0.812	0.10306	0.066000	0.14358	0.508000	0.19055	0.618000	0.50648	0.043000	0.21118	0.003000	0.18671	0.006000	0.07323	0.3895:0.1371:0.4734:0.0	5.721	0.17256	964	0.07719	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	689.98	35	chr10	48820289	.	G	A	689.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.454;DP=797;ExcessHet=0.0000;FS=0.916;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.86;ReadPosRankSum=-4.850e-01;SOR=0.544	GT:AD:DP:GQ:PL	0/1:39,31:70:99:704,0,928	20	0	1	0
chr10	49325312	49325312	C	T	exonic	C10orf71	.	nonsynonymous SNV	C10orf71:NM_001135196:exon3:c.C2767T:p.R923W,	.	.	419	1099	4	0	0	4	0.00181653	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	D	.	.	.	.	0.204	N	1.000	N	0.895	L	3.41	T	-0.982	T	0.016	T	0.13	2.052	12.82	-0.486	-0.106	-0.033	1.750	0.022	0.0128581728285	.	.	9.722e-05	0	0	0	0	0	0	0.0003	1.29e-05	2	154602	rs780254333	0.0002	0.0002	0.0002	0.0002	0.0010	0.0002	0.0002	0.0008	0.0007	3.165e-05	5.602e-05	3.971e-05	0	0	0.0009	0.0001	0.0002	0.0010	0.0002	0.0002	0.0002	0.0002	0.0012	0.0001	9.696e-05	0.0005	0.0004	4.811e-05	0	6.534e-05	0	0	0	0	0.0002	0.0009	0.0012	0.038	0.42783	D	0.028	0.54934	D	.	.	.	.	.	.	0.203970	0.03340	N	2.013780	1	0.08975	N	.	.	.	3.41	0.05574	T	0.26	0.04380	N	0.084	0.06059	-0.9822	0.34491	T	0.016	0.06377	T	8	0.043611765	0.03229	T	0.012858	0.31797	T	0.022	0.04323	.	.	0.278968121808	0.27521	0.0997012842288357	0.09901	0.240276603734	0.26575	.	.	.	.	.	.	-0.582734	0.00185	T	-0.715149	0.05033	T	0.0328096861374012	0.02440	T	0.410359	0.10588	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.079	0.07083	B	.	.	1.277595	0.16768	12.75	0.98488241226496265	0.42061	0.09011	0.14850	N	AEFDBI	0.131482	0.25043	N	-0.843378978489118	0.12213	0.5939647	-0.972909578614397	0.10397	0.523344	0.738111527210054	0.23166	0.487112	0.14033	0	0.563428	0.19063	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.09	-0.486	0.11462	0.453000	0.21523	0.139000	0.15146	-0.252000	0.07121	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2708:0.3506:0.2346:0.144	1.750	0.02790	894	0.26265	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	2741.98	112	chr10	49325312	.	C	T	2741.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.51;DP=2616;ExcessHet=0.0000;FS=2.520;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.58;ReadPosRankSum=0.766;SOR=0.526	GT:AD:DP:GQ:PL	0/1:88,100:188:99:2756,0,2036	20	0	1	0
chr10	53827437	53827437	-	GGCGGC	exonic	PCDH15	.	nonframeshift insertion	PCDH15:NM_001142765:exon30:c.4109_4110insGCCGCC:p.P1372_G1373insPP	Deafness, autosomal recessive 23, Autosomal recessive;Usher syndrome, type 1D/F digenic, Autosomal recessive, Digenic recessive;Usher syndrome, type 1F, Autosomal recessive	.	0	1511	10	0	1	11	0.00329815	.	.	614604	not_provided|PCDH15-related_disorder|Usher_syndrome_type_1F|Usher_syndrome_type_1D|Autosomal_recessive_nonsyndromic_hearing_loss_23|not_specified	MedGen:C3661900|.|MONDO:MONDO:0011186,MedGen:C1865885,OMIM:602083,Orphanet:231169,Orphanet:886|MONDO:MONDO:0010984,MedGen:C1832845,OMIM:601067,Orphanet:231169,Orphanet:886|MONDO:MONDO:0012293,MedGen:C1836027,OMIM:609533,Orphanet:90636|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00179712	0.0013	9.962e-05	0.0018	0.0074	0	0.0003	0.0011	0.0032	0.0005379	14	26028	rs559130985	0.0008	0.0008	0.0008	0.0009	0.0059	0.0008	0.0008	0.0053	0.0050	0.0003	0.0012	0.0010	0.0059	1.876e-05	0.0050	0.0005	0.0008	0.0034	0.0007	0.0007	0.0007	0.0007	0.0072	0.0006	0.0006	0.0053	0.0047	0.0003	0	0.0006	0.0012	0.0072	0	0.0068	0.0005	0.0009	0.0021	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1969.94	37	chr10	53827437	.	A	AGGCGGC	1969.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.540e-01;DP=888;ExcessHet=0.0000;FS=0.596;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.88;ReadPosRankSum=-2.600e-01;SOR=0.637	GT:AD:DP:GQ:PL	0/1:70,83:153:99:1984,0,2482	20	0	1	0
chr10	61940328	61940328	A	C	exonic	ARID5B	.	nonsynonymous SNV	ARID5B:NM_032199:exon3:c.A422C:p.E141A,	.	.	426	1076	19	1	0	21	0.00966406	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.996	D	0.993	D	0.000	D	1.000	D	1.01	L	0.81	T	-0.673	T	0.218	T	0.706	4.225	22.0	5.7	2.178	8.962	15.958	0.249	0.0241877483772	0.0010	0.000998403	0.0013	0.0002	0.0010	0	0.0008	0.0019	0.0011	0.0005	0.0012742	197	154602	rs150284163	0.0014	0.0014	0.0014	0.0014	0.0036	0.0013	0.0013	0.0024	0.0020	0.0003	0.0008	0.0014	0	0.0006	0.0036	0.0015	0.0019	0.0007	0.0013	0.0013	0.0011	0.0014	0.0020	0.0011	0.0011	0.0015	0.0014	0.0002	0.0121	0.0020	0.0017	0	0.0004	0.0034	0.0017	0.0033	0.0017	0.002	0.72154	D	0.01	0.65728	D	0.988	0.62325	D	0.637	0.51992	P	0.000000	0.84330	D	0.046634	1	0.81001	D	1.655	0.42436	L	0.81	0.48460	T	-1.26	0.31778	N	0.521	0.55106	-0.6732	0.61683	T	0.218	0.58111	T	10	0.009630859	0.00217	T	0.024188	0.47175	T	0.249	0.55752	.	.	0.621581004972	0.61851	0.5057587849629007	0.50497	1.50828235281	0.87183	0.526060581207	0.42479	T	0.30718	0.67934	T	-0.215287	0.18641	T	-0.0888057	0.64252	T	0.0373188578005179	0.03212	T	0.873813	0.58316	D	0.38897392	0.59958	0.27519768	0.53454	0.38897392	0.59959	0.27519768	0.53453	-4.767	0.34204	T	.	.	0.139	0.30344	B	.;.	.;.	4.085513	0.60807	24.3	0.99611039877335594	0.74813	0.96869	0.71382	D	AEFGBHCI	0.869391	0.78991	D	0.664852938671506	0.77332	6.654662	0.712687126997063	0.83343	7.996649	0.999999999999955	0.74766	0.730579	0.87903	0	0.749866	0.99406	0	0.547309	0.15389	0	0.620204	0.46100	0	.	.	5.7	5.7	0.88690	8.947000	0.92735	11.269000	0.91340	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	1.0:0.0:0.0:0.0	15.958	0.79691	767	0.49651	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1265.98	34	chr10	61940328	.	A	C	1265.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.206;DP=767;ExcessHet=0.0000;FS=0.945;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=17.11;ReadPosRankSum=-2.290e-01;SOR=0.907	GT:AD:DP:GQ:PL	0/1:28,46:74:99:1280,0,702	20	0	1	0
chr10	63189343	63189343	T	A	exonic	JMJD1C	.	nonsynonymous SNV	JMJD1C:NM_001322254:exon16:c.A5738T:p.K1913I	.	.	423	1097	2	0	0	2	0.000910747	.	.	564637	Early_myoclonic_encephalopathy|Hepatoblastoma	MONDO:MONDO:0016022,MedGen:C0270855,Orphanet:1935|Human_Phenotype_Ontology:HP:0002884,MONDO:MONDO:0018666,MedGen:C0206624,Orphanet:449	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.06	T	0.987	D	0.794	P	0.000	D	1.000	D	2.24	M	0.72	T	-0.338	T	0.374	T	0.438	4.382	23.2	5.47	2.201	4.572	15.509	0.156	0.09126481167	0.0009	0.000199681	0.0011	0.0002	0.0005	0	0	0.0016	0.0011	0.0012	0.001119	173	154602	rs200769337	0.0011	0.0011	0.0011	0.0011	0.0022	0.0011	0.0011	0.0020	0.0019	0.0001	0.0005	7.656e-05	0	0.0004	0.0003	0.0012	0.0007	0.0022	0.0007	0.0007	0.0006	0.0008	0.0019	0.0006	0.0006	0.0010	0.0009	0.0002	0	0.0005	0	0	0.0002	0	0.0012	0.0009	0.0019	0.001	0.78490	D	0.005	0.72224	D	0.987	0.61912	D	0.794	0.57880	P	0.000000	0.84330	D	0.047074	0.999987	0.81001	D	2.215	0.62545	M	0.72	0.50976	T	-3.86	0.72471	D	0.353	0.48596	-0.3383	0.73893	T	0.374	0.73265	T	10	0.022912264	0.00585	T	0.091265	0.75675	D	0.196	0.47777	.	.	0.329044607051	0.32520	0.7494538752007713	0.74892	0.660587914024	0.58878	0.475487887859	0.35437	T	0.232289	0.59882	T	-0.335983	0.05672	T	-0.261869	0.48638	T	0.0827588364481926	0.10337	T	0.885811	0.61165	D	0.5848764	0.71874	0.46306205	0.68828	0.5848764	0.71875	0.46306205	0.68828	-5.469	0.41578	T	0.7351534073806982	0.81699	0.227	0.50636	B	.;.;.	.;.;.	4.457039	0.69330	25.4	0.99401105637794296	0.62794	0.99475	0.96487	D	AEFBI	0.609804	0.59887	D	0.382135905419247	0.60453	4.23449	0.431817841560252	0.63557	4.59192	0.999994045243088	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.643519	0.47002	0	0.714379	0.83352	0	.	.	5.47	5.47	0.80345	4.394000	0.59433	2.248000	0.31665	0.665000	0.62972	1.000000	0.71638	0.999000	0.35428	0.996000	0.76049	0.0:0.0:0.0:1.0	15.509	0.75497	600	0.68026	.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2734.98	34	chr10	63189343	.	T	A	2734.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.648e+00;DP=912;ExcessHet=0.0000;FS=0.495;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.43;ReadPosRankSum=-6.350e-01;SOR=0.636	GT:AD:DP:GQ:PL	0/1:100,120:220:99:2749,0,2295	20	0	1	0
chr10	68503688	68503688	G	T	exonic	SLC25A16	.	nonsynonymous SNV	SLC25A16:NM_001324312:exon4:c.C365A:p.T122N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.49	T	0.06	B	0.063	B	0.039	N	0.986	N	0.445	N	-1.16	T	-0.903	T	0.252	T	0.046	1.339	10.40	5.99	2.857	2.473	13.411	0.291	0.0022621485963	.	.	8.251e-06	0	0	0	0	0	0	6.059e-05	6.5e-06	1	154602	rs753520144	6.916e-06	1.026e-05	2.755e-06	1.111e-05	0.0004	3.5e-06	2.55e-06	6.147e-05	2.542e-05	0	0	0	0	0	0.0004	1.819e-06	0	7.073e-05	6.575e-06	6.57e-06	0	1.347e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	.	.	.	0.492	0.11479	T	0.06	0.23119	B	0.063	0.27082	B	0.038621	0.24266	N	0.501755	0.986426	0.24618	N	0.25	0.09762	N	.	.	.	.	.	.	0.18	0.19459	-0.9032	0.47650	T	0.252	0.62142	T	10	0.14120358	0.26833	T	0.002262	0.04314	T	.	.	0.298	0.26362	0.505028829284	0.50142	0.5517347055379637	0.55099	0.186505350035	0.20959	0.561312317848	0.47453	T	0.099748	0.40487	T	-0.376938	0.03256	T	-0.596454	0.13111	T	0.555675864219666	0.34691	D	0.823718	0.48487	T	0.088005364	0.20514	0.08023788	0.18134	0.088005364	0.20514	0.08023788	0.18133	-6.056	0.46745	T	0.08096245965821569	0.04135	0.153	0.33913	B	.	.	3.090728	0.41615	21.4	0.93755532734761515	0.23698	0.63423	0.32085	D	AEFBI	0.057895	0.10821	N	-0.0924085751557285	0.37726	2.198967	0.145168666590409	0.46886	2.927426	0.00581062284981797	0.11048	0.732398	0.92422	0	0.743671	0.97443	0	0.658983	0.55881	0	0.727631	0.95156	0	.	.	5.99	5.99	0.97299	2.614000	0.46024	8.271000	0.76889	0.596000	0.33519	0.998000	0.41325	1.000000	0.68203	0.998000	0.85391	0.0:0.0:0.743:0.257	13.411	0.60391	872	0.31118	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	842.98	35	chr10	68503688	.	G	T	842.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.360e-01;DP=766;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.95;ReadPosRankSum=-8.520e-01;SOR=0.636	GT:AD:DP:GQ:PL	0/1:37,40:77:99:857,0,794	20	0	1	0
chr10	71751847	71751847	A	G	exonic	VSIR	.	nonsynonymous SNV	VSIR:NM_022153:exon6:c.T719C:p.I240T,	.	.	412	1085	24	1	0	26	0.0118397	.	.	3409321	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.15	T	0.808	P	0.422	B	0.000	D	1.000	D	1.995	M	0.66	T	-0.859	T	0.168	T	0.476	3.017	16.07	5.82	2.232	5.693	16.173	0.158	.	0.0002	0.00239617	0.0014	0	0.0014	0	0	0.0004	0.0039	0.0113	0.0014359	222	154602	rs151170391	0.0008	0.0009	0.0006	0.0010	0.0097	0.0008	0.0008	0.0091	0.0089	3.183e-05	0.0006	0.0034	0	0	0.0051	0.0002	0.0011	0.0097	0.0006	0.0006	0.0004	0.0007	0.0108	0.0005	0.0004	0.0084	0.0076	7.223e-05	0	0.0004	0.0023	0	0	0.0034	0.0002	0.0009	0.0108	0.07	0.35349	T	0.22	0.25907	T	0.808	0.45299	P	0.422	0.45143	B	0.000418	0.44736	D	0.257076	1	0.81001	D	.	.	.	0.66	0.52416	T	-2.2	0.49519	N	0.679	0.68603	-0.8592	0.51320	T	0.168	0.50697	T	10	0.010266542	0.00229	T	.	.	.	0.158	0.41098	.	.	0.396645960531	0.39282	0.11599831200167962	0.11527	0.531866609832	0.50666	.	.	.	0.092873	0.39095	T	-0.349859	0.04736	T	-0.267363	0.48085	T	0.031107798496653	0.02162	T	0.845215	0.52386	T	0.09921461	0.23412	0.11632411	0.28083	0.09921461	0.23412	0.11632411	0.28082	-5.64	0.43156	T	.	.	0.275	0.50862	B	.	.	3.914739	0.57112	23.8	0.99007520900926638	0.50293	0.96049	0.67302	D	AEFBCI	0.768422	0.70399	D	0.31749123875265	0.57046	3.870607	0.391570939865906	0.61043	4.299221	0.99999997111564	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.547309	0.15389	0	0.655142	0.61905	0	.	.	5.82	5.82	0.92740	5.685000	0.67865	11.198000	0.88920	0.691000	0.84096	1.000000	0.71638	1.000000	0.68203	0.955000	0.50612	1.0:0.0:0.0:0.0	16.173	0.81642	830	0.39242	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	2160.98	33	chr10	71751847	.	A	G	2160.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.25;DP=870;ExcessHet=0.0000;FS=1.889;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.64;ReadPosRankSum=0.315;SOR=0.636	GT:AD:DP:GQ:PL	0/1:85,86:171:99:2175,0,1898	20	0	1	0
chr10	71814971	71814971	A	C	exonic	CDH23	.	nonsynonymous SNV	CDH23:NM_001171936:exon4:c.A344C:p.D115A	Deafness, autosomal recessive 12, Autosomal recessive;Usher syndrome, type 1D, Autosomal recessive, Digenic recessive;Usher syndrome, type 1D/F digenic, Autosomal recessive, Digenic recessive	.	0	1488	34	0	0	34	0.0112957	.	.	55244	Autosomal_recessive_nonsyndromic_hearing_loss_12|Usher_syndrome_type_1D|Galactosylceramide_beta-galactosidase_deficiency|Metachromatic_leukodystrophy|not_provided|Combined_PSAP_deficiency|Atypical_Gaucher_Disease|not_specified|Usher_syndrome_type_1	MONDO:MONDO:0011067,MedGen:C1832394,OMIM:601386,Orphanet:90636|MONDO:MONDO:0010984,MedGen:C1832845,OMIM:601067,Orphanet:231169,Orphanet:886|MONDO:MONDO:0009499,MedGen:C0023521,OMIM:245200,Orphanet:487|MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100,Orphanet:512|MedGen:C3661900|MONDO:MONDO:0012719,MedGen:C2673635,OMIM:611721,Orphanet:139406|MedGen:CN239218|MedGen:CN169374|MONDO:MONDO:0010168,MedGen:C1568247,OMIM:276900,Orphanet:231169,Orphanet:886	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.03	D	0.167	B	0.107	B	0.005	N	1.000	D	1.1	L	-1.27	T	-0.607	T	0.099	T	0.135	3.086	16.31	4.15	1.996	6.289	10.470	0.269	.	0.0027	0.0071885	0.0034	0.0158	0.0019	0	0	0.0008	0.0068	0.0117	0.0027943	432	154602	rs140463385	0.0015	0.0015	0.0012	0.0017	0.0141	0.0014	0.0014	0.0130	0.0126	0.0141	0.0017	0.0046	5.041e-05	0	0.0076	0.0003	0.0029	0.0102	0.0046	0.0046	0.0045	0.0046	0.0134	0.0043	0.0042	0.0125	0.0121	0.0134	0	0.0029	0.0035	0.0004	0	0.0068	0.0003	0.0038	0.0106	0.016	0.51853	D	0.007	0.69154	D	0.03	0.20002	B	0.022	0.19653	B	0.005483	0.32753	N	0.282649	0.813289	0.35703	D	0.805	0.20218	L	-1.27	0.79277	T	-1.14	0.29323	N	0.146	0.16308	-0.6071	0.64523	T	0.099	0.36907	T	10	0.008310497	0.00189	T	.	.	.	0.269	0.58381	.	.	0.882921449578	0.88177	0.40577768708480505	0.40493	0.179719734913	0.20215	0.346304118633	0.17376	T	0.024742	0.58764	T	-0.410882	0.01961	T	-0.351304	0.39055	T	0.0259886223339784	0.01405	T	0.823018	0.50622	T	0.13823578	0.31977	0.19175486	0.42652	0.16637209	0.36968	0.19290687	0.42829	-3.983	0.28678	T	.	.	0.098	0.18580	B	.;.;.;.	.;.;.;.	3.925396	0.57339	23.8	0.9891917616852629	0.48527	0.94266	0.60621	D	AEFDGBHCI	0.710844	0.66447	D	0.0308156560726651	0.43262	2.622502	0.194889263447921	0.49566	3.158281	0.99999999998484	0.74766	0.498214	0.20090	0	0.572659	0.20510	0	0.440796	0.06475	0	0.711	0.71501	0	.	.	5.28	4.15	0.47978	6.294000	0.72722	8.697000	0.78095	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.984000	0.60418	0.9239:0.0:0.0761:0.0	10.470	0.43817	782	0.47442	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.02381	1078.98	38	chr10	71814971	.	A	C	1078.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.255e+00;DP=791;ExcessHet=0.0000;FS=4.349;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.55;ReadPosRankSum=-1.041e+00;SOR=0.355	GT:AD:DP:GQ:PL	0/1:42,44:86:99:1093,0,1197	20	0	1	0
chr10	71819866	71819866	G	A	exonic	PSAP	.	nonsynonymous SNV	PSAP:NM_001042466:exon10:c.C1046T:p.S349L	Combined SAP deficiency, Autosomal recessive;Gaucher disease, atypical;Krabbe disease, atypical, Autosomal recessive;Metachromatic leukodystrophy due to SAP-b deficiency, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	1421649	Sphingolipid_activator_protein_1_deficiency	MONDO:MONDO:0009590,MedGen:C0268262,OMIM:249900,Orphanet:512	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.21	T	0.124	B	0.052	B	0.147	N	1.000	N	1.52	L	-2.03	D	-0.780	T	0.444	T	0.136	1.994	12.62	1.68	0.050	1.090	1.586	0.152	0.0594954341892	.	.	1.673e-05	0	0	0	0	0	0	0.0001	1.29e-05	2	154602	rs768846459	1.573e-05	1.573e-05	1.497e-05	1.65e-05	5.797e-05	1.048e-05	8.75e-06	2.194e-05	1.43e-05	0	0	0	5.038e-05	0	0	1.349e-05	1.656e-05	5.797e-05	1.314e-05	1.313e-05	2.569e-05	0	2.94e-05	2.18e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.94e-05	0	0	0.035	0.43708	D	0.127	0.35205	T	0.124	0.26825	B	0.052	0.25551	B	0.146525	0.02928	N	1.606390	1	0.08975	N	1.93	0.51437	L	-2.03	0.85613	D	-3.06	0.63090	D	0.218	0.24883	-0.7796	0.56325	T	0.444	0.78093	T	10	0.20212796	0.36321	T	0.059495	0.67683	D	0.152	0.39956	.	.	0.555119849871	0.55171	0.362792876508276	0.36193	0.0402348126993	0.04305	0.300765812397	0.10515	T	0.860001	0.96885	D	-0.226801	0.17075	T	-0.360907	0.37948	T	0.0733719123868803	0.09116	T	0.756624	0.37993	T	0.11136769	0.26318	0.1020286	0.24444	0.11136769	0.26318	0.1020286	0.24443	-7.754	0.59382	D	0.3457073506123161	0.44322	0.079	0.09191	B	.;.	.;.	1.463079	0.18861	13.96	0.97365220187607304	0.33593	0.32949	0.24710	N	AEFBCI	0.480470	0.52217	N	-0.914647339755795	0.10498	0.5019893	-0.950286891908985	0.10915	0.5529208	0.999541565168672	0.40300	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.67	1.68	0.23219	1.115000	0.30823	2.894000	0.35409	-0.135000	0.12811	0.095000	0.22689	0.788000	0.26838	0.001000	0.02609	0.2071:0.1174:0.4341:0.2414	1.586	0.02484	778	0.48011	Saposin-like type B, region 1|Saposin B type domain|Saposin B type domain;Saposin-like type B, region 1|Saposin B type domain|Saposin B type domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1744.98	33	chr10	71819866	.	G	A	1744.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.054;DP=878;ExcessHet=0.0000;FS=5.989;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.66;ReadPosRankSum=1.17;SOR=1.287	GT:AD:DP:GQ:PL	0/1:53,66:119:99:1759,0,1327	20	0	1	0
chr10	72007990	72007990	C	G	exonic	CHST3	.	nonsynonymous SNV	CHST3:NM_004273:exon3:c.C959G:p.T320S,	Spondyloepiphyseal dysplasia with congenital joint dislocations, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	525571	Spondyloepiphyseal_dysplasia_with_congenital_joint_dislocations	MONDO:MONDO:0007738,MedGen:C1837657,OMIM:143095,Orphanet:263463	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.75	T	0.0	B	0.002	B	0.056	N	1.000	N	-0.605	N	-1.41	T	-0.982	T	0.182	T	0.037	-0.022	3.900	-0.039	0.007	-0.301	14.975	0.181	0.00907511464996	.	0.000798722	0.0004	0.0056	0	0	0	0	0	0	0.0001035	16	154602	rs535309495	7.515e-05	7.456e-05	8.756e-05	6.239e-05	0.0026	6.326e-05	5.853e-05	0.0022	0.0020	0.0026	0.0001	0	0	0	0.0004	4.636e-06	0.0002	0	0.0007	0.0007	0.0008	0.0006	0.0024	0.0006	0.0005	0.0020	0.0019	0.0024	0	0.0003	0	0	0	0	0	0.0005	0	0.749	0.03598	T	0.872	0.03296	T	0.0	0.02946	B	0.002	0.06944	B	0.055533	0.22635	N	0.500574	0.999663	0.20745	N	-0.01	0.05129	N	-1.41	0.80560	T	-0.72	0.20358	N	0.023	0.00407	-0.9817	0.34608	T	0.182	0.53011	T	10	0.0066131055	0.00150	T	0.009075	0.23869	T	0.181	0.45247	0.421	0.46365	0.77276793258	0.77067	0.5659236908972333	0.56520	0.590872984111	0.54534	0.375748425722	0.21653	T	0.123432	0.44780	T	-0.548984	0.00296	T	-0.564404	0.15967	T	0.00163683618991387	0.00017	T	0.521348	0.16985	T	0.054346852	0.10415	0.042262513	0.04993	0.054346852	0.10414	0.042262513	0.04993	-4.593	0.32083	T	0.13460844972235658	0.14556	0.069	0.03197	B	.	.	0.958094	0.13348	9.849	0.70425843119647913	0.09292	0.20149	0.20933	N	AEFDBI	0.081799	0.16557	N	-0.952097698146207	0.09646	0.457408	-0.795789214588763	0.14598	0.7635802	0.999943240256363	0.47345	0.646311	0.45356	0	0.547309	0.14657	0	0.645312	0.48771	0	0.491896	0.07777	0	.	.	5.55	-0.0392	0.13205	-0.302000	0.08259	0.430000	0.18314	-0.218000	0.08083	0.004000	0.16614	0.962000	0.29361	0.989000	0.64315	0.1072:0.3395:0.5533:0.0	14.975	0.70917	722	0.55239	Sulfotransferase domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1136.98	36	chr10	72007990	.	C	G	1136.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.46;DP=845;ExcessHet=0.0000;FS=1.881;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.58;ReadPosRankSum=0.752;SOR=0.990	GT:AD:DP:GQ:PL	0/1:36,42:78:99:1151,0,926	20	0	1	0
chr10	73047065	73047065	G	A	exonic	P4HA1	.	nonsynonymous SNV	P4HA1:NM_000917:exon8:c.C937T:p.H313Y	.	.	.	.	.	.	.	.	.	.	.	3191677	P4HA1-related_disorder	.	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	1	T	0.0	B	0.001	B	0.000	D	0.787	D	-0.535	N	1.0	T	-1.003	T	0.025	T	0.252	0.545	6.949	5.94	2.819	4.996	7.811	0.084	.	0.0033	0.00459265	0.0012	0.0123	0.0011	0	0	0	0	6.059e-05	0.0011319	175	154602	rs144541240	0.0003	0.0003	0.0004	0.0003	0.0123	0.0003	0.0003	0.0113	0.0109	0.0123	0.0008	0	0	0	0.0005	6.297e-06	0.0006	1.16e-05	0.0035	0.0035	0.0037	0.0034	0.0126	0.0033	0.0032	0.0117	0.0114	0.0126	0	0.0004	0	0	0	0	5.881e-05	0.0019	0	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.001	0.04355	B	0.000036	0.55875	D	0.163921	0.787021	0.34338	D	0.25	0.09762	N	1.0	0.42502	T	-0.04	0.08653	N	0.292	0.41459	-1.0029	0.29080	T	0.025	0.10866	T	10	0.007511109	0.00171	T	.	.	.	0.084	0.24469	.	.	0.262679179196	0.25893	0.5401209587074706	0.53937	.	.	0.716003000736	0.69464	T	0.270082	0.64233	T	-0.528989	0.00389	T	-0.521601	0.20132	T	0.014816046732765	0.00312	T	0.940006	0.77317	D	0.04110036	0.05991	0.072882935	0.15774	0.04110036	0.05990	0.072882935	0.15773	-2.328	0.04733	T	.	.	0.065	0.05188	B	.;.;.;.;.	.;.;.;.;.	2.985967	0.39851	21.0	0.84906744987173066	0.15568	0.88001	0.47743	D	AEFBI	0.432638	0.49443	N	-0.278393930328633	0.29985	1.667733	0.0254583889037885	0.40901	2.448394	0.999960900135327	0.48965	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	5.94	5.94	0.96165	4.249000	0.58555	11.788000	0.96293	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.1886:0.0:0.8114:0.0	7.811	0.28393	883	0.28872	.;.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1039.98	33	chr10	73047065	.	G	A	1039.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.143;DP=794;ExcessHet=0.0000;FS=0.825;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.43;ReadPosRankSum=0.640;SOR=0.818	GT:AD:DP:GQ:PL	0/1:48,43:91:99:1054,0,1254	20	0	1	0
chr10	73240981	73240981	G	0	exonic	FAM149B1	.	.	.	.	.	431	911	149	5	26	185	0.0802625	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2857	11177.05	95	chr10	73240981	.	G	A,*	11177.05	.	AC=10,2;AF=0.238,0.048;AN=42;BaseQRankSum=1.81;DP=1346;ExcessHet=0.7800;FS=0.000;InbreedingCoeff=0.0667;MLEAC=10,2;MLEAF=0.238,0.048;MQ=60.00;MQRankSum=0.00;QD=11.79;ReadPosRankSum=0.347;SOR=0.674	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:65,0,36:101:99:0|1:73240978_AGCGGAG_A:1310,1505,4235,0,2729,2620:73240978	11	2	6	0
chr10	73816912	73816912	G	A	exonic	CAMK2G	.	nonsynonymous SNV	CAMK2G:NM_001367538:exon15:c.C1054T:p.R352C	.	.	10	1506	6	0	0	6	0.00198807	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000599042	0.0001	0.0008	0	0	0	7.735e-05	0	0.0002	0.0001294	20	154602	rs574340990	7.68e-05	7.798e-05	6.822e-05	8.546e-05	0.0003	6.506e-05	6.084e-05	0.0002	0.0001	0.0003	2.24e-05	0	0	1.897e-05	0.0003	6.935e-05	0.0001	0.0001	0.0001	0.0001	0.0002	9.402e-05	0.0004	9.74e-05	8.255e-05	0.0003	0.0002	0.0004	0	6.537e-05	0	0	0	0	5.881e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2045.98	37	chr10	73816912	.	G	A	2045.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.369;DP=882;ExcessHet=0.0000;FS=0.586;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.03;ReadPosRankSum=-5.100e-01;SOR=0.755	GT:AD:DP:GQ:PL	0/1:74,83:157:99:2060,0,1763	20	0	1	0
chr10	86945586	86945586	G	T	exonic	MMRN2	.	nonsynonymous SNV	MMRN2:NM_024756:exon2:c.C268A:p.P90T,	.	.	.	.	.	.	.	.	.	.	.	3457618	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.15	T	0.981	D	0.832	P	0.002	N	1.000	N	1.81	L	0.98	T	-1.009	T	0.139	T	0.166	2.608	14.68	1.49	0.271	1.553	4.000	0.100	0.0204486038074	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.375e-06	1.368e-06	0	2.769e-06	1.804e-06	2.3e-07	9e-08	3e-07	1.1e-07	0	0	0	0	0	0	1.804e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.118	0.28148	T	0.009	0.67890	D	0.981	0.59675	D	0.832	0.59730	P	0.002050	0.37364	N	0.218862	1	0.08975	N	2.525	0.73725	M	0.98	0.42122	T	-5.84	0.88431	D	0.365	0.40665	-1.0092	0.27167	T	0.139	0.45715	T	10	0.3152809	0.48961	T	0.020449	0.43047	T	0.100	0.28662	0.517	0.61763	0.736917875404	0.73456	0.424727429226316	0.42389	0.663835845128	0.59036	0.323059618473	0.13884	T	0.133351	0.46397	T	-0.182313	0.23392	T	-0.499656	0.22383	T	0.961672008037567	0.66149	D	0.848615	0.59309	T	0.18905206	0.40430	0.20933934	0.45275	0.18905206	0.40429	0.20933934	0.45274	-8.96	0.67439	D	.	.	0.075	0.09288	B	.;.;.	.;.;.	2.708312	0.35391	19.89	0.99262436271691545	0.57255	0.52759	0.29208	D	AEFDGBHCI	0.153597	0.27848	N	0.0559570995769688	0.44418	2.71616	-0.0574464146210895	0.37170	2.172734	0.999830411517298	0.43792	0.67177	0.52595	0	0.615948	0.52940	0	0.596874	0.31795	0	0.711	0.71501	0	.	.	5.56	1.49	0.21966	1.855000	0.39018	0.114000	0.14823	0.618000	0.50648	0.993000	0.37899	0.000000	0.08366	0.888000	0.42677	0.1404:0.1264:0.6024:0.1308	4.000	0.09067	867	0.32089	EMI domain|EMI domain;EMI domain|EMI domain;EMI domain|EMI domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1171.98	33	chr10	86945586	.	G	T	1171.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-8.100e-01;DP=861;ExcessHet=0.0000;FS=5.509;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.63;ReadPosRankSum=-6.370e-01;SOR=0.321	GT:AD:DP:GQ:PL	0/1:40,46:86:99:1186,0,1008	20	0	1	0
chr10	92192516	92192516	T	C	exonic	CPEB3	.	nonsynonymous SNV	CPEB3:NM_014912:exon3:c.A1126G:p.M376V,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.51	T	0.003	B	0.006	B	0.000	D	1.000	D	0	N	1.03	T	-1.062	T	0.051	T	0.583	1.432	10.73	4.94	2.326	4.479	10.351	0.132	0.00736924497271	.	.	2.472e-05	0	0	0	0	1.499e-05	0	0.0001	3.23e-05	5	154602	rs556852509	1.779e-05	1.847e-05	1.634e-05	1.925e-05	0.0002	1.238e-05	1.051e-05	8.886e-05	7.054e-05	0	2.236e-05	0	0	0	0	9.893e-06	1.656e-05	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.656	0.04757	T	0.566	0.08930	T	0.003	0.11197	B	0.006	0.12133	B	0.000000	0.84330	D	0.000000	1	0.81001	D	1.1	0.28011	L	1.03	0.40469	T	-0.39	0.13611	N	0.564	0.58798	-1.0622	0.11215	T	0.051	0.21883	T	10	0.19268301	0.35006	T	0.007369	0.19550	T	0.132	0.35948	0.298	0.26362	0.514969635325	0.51138	0.7937309871934062	0.79326	0.606460133033	0.55494	0.66066801548	0.61505	T	0.006868	0.06296	T	-0.270411	0.11711	T	-0.351904	0.38988	T	0.063394910186797	0.07691	T	0.822818	0.48291	T	0.20483685	0.42607	0.18930668	0.42270	0.20483685	0.42606	0.18930668	0.42269	-4.321	0.28470	T	.	.	0.069	0.03026	B	.;.	.;.	4.254814	0.64612	24.7	0.92858008957445926	0.22399	0.93073	0.57259	D	AEFGI	0.598545	0.59190	D	-0.217634420337609	0.32410	1.82751	0.0395149810325275	0.41568	2.499501	0.981966682718106	0.30334	0.554377	0.28877	0	0.588066	0.40923	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	6.06	4.94	0.64645	4.463000	0.59863	5.090000	0.47345	0.597000	0.34315	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0732:0.0:0.9268	10.351	0.43122	861	0.33516	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1193.98	34	chr10	92192516	.	T	C	1193.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.67;DP=806;ExcessHet=0.0000;FS=3.295;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.63;ReadPosRankSum=1.60;SOR=0.528	GT:AD:DP:GQ:PL	0/1:73,51:124:99:1208,0,1734	20	0	1	0
chr10	97468295	97468295	T	C	exonic	MMS19	.	nonsynonymous SNV	MMS19:NM_001289403:exon12:c.A1046G:p.N349S	.	.	434	1087	1	0	0	1	0.00045977	.	.	2728771	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.97	T	0.001	B	0.001	B	0.003	N	1.000	N	0.55	N	-0.07	T	-1.019	T	0.091	T	0.023	-0.239	2.847	1.42	0.431	0.956	5.115	0.071	0.0144127926326	.	.	0.0001	0	0	0	0	7.545e-05	0	0.0005	9.06e-05	14	154602	rs756719334	7.405e-05	7.388e-05	5.592e-05	9.237e-05	0.0009	6.262e-05	5.82e-05	0.0003	0.0002	2.997e-05	0	7.674e-05	0	0	0.0009	5.766e-05	0.0001	0.0003	4.596e-05	4.593e-05	6.425e-05	2.685e-05	7.35e-05	2.108e-05	1.526e-05	2.846e-05	1.858e-05	0	0	0	0.0003	0	0	0.0034	7.35e-05	0	0	0.713	0.04056	T	0.951	0.02610	T	0.0	0.02946	B	0.001	0.04355	B	0.002574	0.36316	N	0.331162	1	0.81001	D	-0.41	0.02942	N	-0.07	0.63738	T	0.48	0.03041	N	0.175	0.24135	-1.0186	0.24171	T	0.091	0.34765	T	10	0.0657419	0.08915	T	0.014413	0.34508	T	0.071	0.20720	0.606	0.73825	0.486257639955	0.48257	0.10803738714671685	0.10732	0.103536362242	0.11719	0.388834953308	0.23505	T	7.14E-4	0.00326	T	-0.511732	0.00491	T	-0.642843	0.09463	T	0.0117561399016501	0.00181	T	0.809419	0.45992	T	0.018875109	0.00411	0.02759498	0.00923	0.018875109	0.00411	0.02759498	0.00923	-0.211	0.00475	T	.	.	0.051	0.00297	B	.;.;.	.;.;.	0.068254	0.04772	1.391	0.62648902690614017	0.07017	0.77840	0.38321	D	AEFDGBI	0.168357	0.29511	N	-0.877143973802112	0.11387	0.5492828	-0.782684916820485	0.14919	0.7820868	0.999988446247265	0.51787	0.706548	0.73137	0	0.697927	0.68747	0	0.697927	0.64325	0	0.714379	0.83352	0	.	.	5.12	1.42	0.21524	0.981000	0.29124	0.101000	0.14649	0.665000	0.62972	0.781000	0.29485	0.007000	0.19602	0.074000	0.16894	0.0:0.3044:0.1637:0.5319	5.115	0.14160	381	0.83684	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	2274.98	34	chr10	97468295	.	T	C	2274.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.17;DP=909;ExcessHet=0.0000;FS=1.707;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.10;ReadPosRankSum=-7.720e-01;SOR=0.657	GT:AD:DP:GQ:PL	0/1:113,92:205:99:2289,0,2677	20	0	1	0
chr10	98392430	98392430	A	C	splicing	PYROXD2	NM_032709:exon10:c.1062+2T>G	.	.	.	.	428	1089	5	0	0	5	0.00229043	1.0000	0.94	2523796	Leigh_syndrome	MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000,Orphanet:506	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.000	D	.	.	.	.	.	.	.	.	.	2.600	14.66	5.0	1.865	8.509	14.405	.	.	.	.	8.292e-05	0	0	0	0	0.0001	0	6.222e-05	8.41e-05	13	154602	rs199640378	8.145e-05	8.14e-05	7.764e-05	8.53e-05	0.0023	6.939e-05	6.49e-05	0.0013	0.0011	0.0003	6.709e-05	0	0	0	0.0023	6.835e-05	0.0002	5.798e-05	8.562e-05	8.542e-05	7.725e-05	9.44e-05	0.0001	4.969e-05	3.971e-05	7.918e-05	6.001e-05	2.421e-05	0	0	0	0	0	0	0.0001	0.0010	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.0131164	0.49829	T	-0.0199487	0.69032	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.897913	0.80482	27.3	0.99366369496913998	0.61240	0.98084	0.79462	D	AEFBHCI	.	.	.	1.00836279071477	0.95996	14.18727	0.810581919512467	0.90519	10.44468	0.999999999793016	0.74766	0.162113	0.03585	0	0.18701	0.04157	0	0.083675	0.02720	0	0.24566	0.04862	0	0.896785	0.56392	5.0	5.0	0.66209	8.728000	0.91213	11.167000	0.87842	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.125000	0.19370	1.0:0.0:0.0:0.0	14.405	0.66648	768	0.49510	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1806.98	41	chr10	98392430	.	A	C	1806.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.632e+00;DP=848;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.01;ReadPosRankSum=1.90;SOR=0.639	GT:AD:DP:GQ:PL	0/1:55,74:129:99:1821,0,1340	20	0	1	0
chr10	98443214	98443214	C	G	exonic	HPS1	.	nonsynonymous SNV	HPS1:NM_000195:exon3:c.G27C:p.E9D	Hermansky-Pudlak syndrome 1, Autosomal recessive	YES	0	1512	10	0	0	10	0.00329598	.	.	311911	not_specified|not_provided|Hermansky-Pudlak_syndrome|Hermansky-Pudlak_syndrome_1	MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0019312,MedGen:C0079504,OMIM:PS203300,Orphanet:79430|MONDO:MONDO:0008748,MedGen:C2931875,OMIM:203300,Orphanet:231500,Orphanet:79430	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.2	T	0.999	D	0.943	D	0.000	D	0.978	D	2.24	M	1.47	T	-0.998	T	0.103	T	0.331	3.642	18.52	0.483	0.166	0.357	8.575	0.144	.	0.0042	0.00459265	0.0016	0.0130	0.0014	0	0	0.0006	0	0.0001	0.0017011	263	154602	rs7914192	0.0009	0.0009	0.0009	0.0008	0.0138	0.0008	0.0008	0.0127	0.0123	0.0138	0.0026	0	0.0001	0	0.0081	0.0004	0.0028	0.0002	0.0040	0.0040	0.0039	0.0042	0.0120	0.0038	0.0037	0.0111	0.0108	0.0120	0	0.0042	0	0	0	0.0034	0.0005	0.0062	0	0.112	0.34621	T	0.041	0.52060	D	0.995	0.77913	D	0.858	0.67921	P	0.000013	0.62929	D	0.111010	0.977656	0.39387	D	2.57	0.75187	M	1.47	0.31987	T	-1.4	0.34596	N	0.171	0.19728	-0.9983	0.30395	T	0.103	0.37919	T	10	0.00729838	0.00166	T	.	.	.	0.144	0.38394	0.397	0.42426	0.252681307341	0.24864	0.5602575712252362	0.55952	0.152108551472	0.17161	0.480261653662	0.36092	T	0.137529	0.47052	T	-0.480947	0.00730	T	-0.452592	0.27410	T	0.0176005658342346	0.00493	T	0.905809	0.66782	D	0.05464702	0.10513	0.07127513	0.15244	0.065598436	0.14035	0.065546155	0.13301	-9.206	0.69921	D	0.2355084455467367	0.31888	0.166	0.36673	B	.;.;.;.	.;.;.;.	2.183723	0.27838	17.60	0.99713304300734629	0.81493	0.75384	0.36907	D	AEFDBCI	0.330109	0.43025	N	0.20853426575813	0.51610	3.341074	0.0948989334595912	0.44291	2.713758	0.998844893951038	0.37800	0.706548	0.73137	0	0.672317	0.65289	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	4.62	0.483	0.16030	0.139000	0.15858	0.177000	0.15587	0.599000	0.40250	0.937000	0.32526	0.935000	0.28640	0.902000	0.43815	0.0:0.5504:0.0:0.4496	8.575	0.32751	807	0.43470	.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2605.98	33	chr10	98443214	.	C	G	2605.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.012e+00;DP=922;ExcessHet=0.0000;FS=1.031;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.53;ReadPosRankSum=0.840;SOR=0.593	GT:AD:DP:GQ:PL	0/1:113,113:226:99:2620,0,2825	20	0	1	0
chr10	102813002	102813002	G	A	exonic	WBP1L	.	nonsynonymous SNV	WBP1L:NM_001083913:exon4:c.G763A:p.D255N	.	.	.	.	.	.	.	.	.	.	.	3348979	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.03	D	0.685	P	0.093	B	0.000	N	1.000	D	1.87	L	1.44	T	-1.051	T	0.070	T	0.04	2.296	13.63	5.15	1.579	7.750	15.205	0.127	0.0177489049985	0.0002	.	3.327e-05	0	0	0	0	6.066e-05	0	0	4.53e-05	7	154602	rs139434993	0.0002	0.0002	0.0002	0.0002	0.0003	0.0002	0.0002	0.0002	0.0002	0	0	0	2.519e-05	1.89e-05	0	0.0003	0.0003	1.159e-05	0.0001	0.0001	0.0001	0.0001	0.0003	8.666e-05	7.258e-05	0.0002	0.0002	2.413e-05	0	0	0	0	0	0	0.0003	0	0	0.025	0.47320	D	0.071	0.43531	T	0.685	0.41537	P	0.093	0.30104	B	0.000000	0.84330	N	0.087086	1	0.81001	D	1.735	0.44892	L	1.42	0.33189	T	-1.34	0.33401	N	0.201	0.23253	-1.0507	0.14203	T	0.070	0.28740	T	10	0.1354227	0.25769	T	0.017749	0.39570	T	0.127	0.34888	.	.	0.138757226776	0.13463	0.12217306483157901	0.12144	0.364984710345	0.38103	0.544489443302	0.45080	T	0.008239	0.07575	T	-0.367852	0.03704	T	-0.580267	0.14520	T	0.256663335096407	0.23168	T	0.724828	0.33863	T	0.21942052	0.44473	0.13514057	0.32364	0.21942052	0.44473	0.13514057	0.32363	-4.722	0.33669	T	.	.	0.086	0.11076	B	.;.	.;.	3.215437	0.43783	21.8	0.99300355246683392	0.58613	0.99399	0.95529	D	AEFDGBIJ	0.922049	0.89645	D	0.169355665804497	0.49730	3.170254	0.236510357496966	0.51885	3.367361	0.999999999999779	0.74766	0.722319	0.85440	0	0.724815	0.89359	0	0.709663	0.75317	0	0.735409	0.98432	0	.	.	6.05	5.15	0.70287	7.875000	0.85599	9.798000	0.81680	0.670000	0.69193	1.000000	0.71638	1.000000	0.68203	0.163000	0.20749	0.067:0.0:0.933:0.0	15.205	0.72860	572	0.70300	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2033.98	35	chr10	102813002	.	G	A	2033.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.325;DP=910;ExcessHet=0.0000;FS=2.505;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.59;ReadPosRankSum=0.487;SOR=0.693	GT:AD:DP:GQ:PL	0/1:106,86:192:99:2048,0,2566	20	0	1	0
chr10	103447301	103447301	G	A	exonic	CALHM2	.	nonsynonymous SNV	CALHM2:NM_015916:exon4:c.C823T:p.R275W,	.	.	420	1087	14	1	0	16	0.00730594	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.11	T	0.998	D	0.764	P	0.000	D	1.000	D	1.78	L	2.16	T	-1.066	T	0.085	T	0.577	3.573	18.21	3.27	1.244	1.897	13.169	0.135	.	7.7e-05	0.00199681	0.0010	0.0002	0.0002	0	0	0.0001	0	0.0068	0.0008732	135	154602	rs370784297	0.0005	0.0005	0.0003	0.0007	0.0066	0.0005	0.0005	0.0061	0.0059	5.974e-05	0.0002	0	5.038e-05	0	0.0014	9.892e-05	0.0005	0.0066	0.0003	0.0003	0.0003	0.0004	0.0085	0.0003	0.0002	0.0064	0.0057	7.214e-05	0	0.0001	0	0	0	0	8.82e-05	0.0005	0.0085	0.007	0.59928	D	0.008	0.67890	D	0.998	0.73220	D	0.764	0.56591	P	0.000022	0.55875	D	0.113847	0.993703	0.42026	D	0.695	0.17993	N	2.16	0.19166	T	-0.88	0.23808	N	0.351	0.43029	-1.0655	0.10432	T	0.085	0.33099	T	10	0.0074653625	0.00170	T	.	.	.	0.135	0.36572	.	.	0.460969658426	0.45724	0.6293661581179711	0.62870	0.784449382396	0.65439	0.523022949696	0.42051	T	0.024396	0.18443	T	-0.427882	0.01527	T	-0.384231	0.35227	T	0.0410869378643372	0.03887	T	0.933507	0.75104	D	0.4605279	0.64704	0.1947734	0.43118	0.4605279	0.64704	0.1947734	0.43117	-5.493	0.41803	T	.	.	0.204	0.43503	B	.;.	.;.	4.596652	0.72755	25.9	0.99915148297823286	0.98309	0.83633	0.42737	D	AEFDGBCI	0.500760	0.53388	D	0.363649136374822	0.59465	4.126003	0.339156152091676	0.57857	3.953194	0.999999925351106	0.74766	0.645754	0.44609	0	0.696144	0.67643	0	0.489635	0.07774	0	0.636168	0.56350	0	.	.	5.37	3.27	0.36580	1.936000	0.39812	4.803000	0.44983	0.676000	0.76740	0.988000	0.36536	1.000000	0.68203	0.671000	0.33280	0.0:0.0:0.5603:0.4396	13.169	0.59009	232	0.90957	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	2004.98	42	chr10	103447301	.	G	A	2004.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.881;DP=924;ExcessHet=0.0000;FS=6.327;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.42;ReadPosRankSum=-8.730e-01;SOR=0.361	GT:AD:DP:GQ:PL	0/1:64,75:139:99:2019,0,1595	20	0	1	0
chr10	106577484	106577484	G	T	exonic	SORCS1	.	nonsynonymous SNV	SORCS1:NM_052918:exon26:c.C3443A:p.A1148E,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.023	B	0.032	B	.	.	1.000	D	0.69	N	2.45	T	-1.056	T	0.034	T	0.474	0.065	4.353	5.73	2.868	4.245	18.443	0.138	0.0101619003028	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.092	0.31682	T	1.0	0.01155	T	0.023	0.18885	B	0.032	0.22131	B	.	.	.	.	1	0.81001	D	0.345	0.11182	N	2.45	0.15028	T	2.17	0.00335	N	0.143	0.14338	-1.0562	0.12724	T	0.034	0.14683	T	8	0.13044164	0.24824	T	0.010162	0.26368	T	0.138	0.37187	0.146	0.04941	0.043077524339	0.03247	0.49267544841862115	0.49188	.	.	.	.	.	0.054091	0.29627	T	-0.14404	0.29248	T	-0.44468	0.28285	T	0.417344349744827	0.29592	T	0.549145	0.18877	T	0.24528234	0.47485	0.48256972	0.70040	0.24528234	0.47485	0.48256972	0.70041	-2.805	0.08230	T	.	.	0.106	0.19559	B	.;.	.;.	3.300547	0.45302	22.1	0.91122369033809825	0.20375	0.51270	0.28856	D	ALL	0.662506	0.63235	D	-0.00763996353340679	0.41508	2.484097	0.213918023484928	0.50619	3.252074	0.999999999999999	0.74766	0.516213	0.21343	1	0.624306	0.53593	0	0.651303	0.49530	0	0.564101	0.26826	0	.	.	5.73	5.73	0.89730	4.423000	0.59610	11.784000	0.96188	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:1.0:0.0	18.443	0.90621	783	0.47268	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	318.11	33	chr10	106577484	.	G	T	318.11	.	AC=1;AF=0.050;AN=20;BaseQRankSum=-3.303e+00;DP=1627;ExcessHet=0.0000;FS=185.973;InbreedingCoeff=-0.1961;MLEAC=2;MLEAF=0.100;MQ=60.00;MQRankSum=0.00;QD=3.09;ReadPosRankSum=1.55;SOR=6.516	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:78,25:103:99:0|1:106577484_G_T:326,0,2289:106577484	9	0	1	11
chr10	106577491	106577491	G	T	exonic	SORCS1	.	nonsynonymous SNV	SORCS1:NM_052918:exon26:c.C3436A:p.Q1146K,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	B	0.0	B	.	.	1.000	D	-0.69	N	2.51	T	-0.957	T	0.014	T	0.247	1.802	11.98	4.5	2.759	2.754	14.175	0.071	0.00759179261642	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.049	0.39820	D	0.883	0.03196	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.81001	D	0	0.06538	N	2.51	0.14284	T	-0.44	0.14588	N	0.158	0.16447	-0.9568	0.39771	T	0.014	0.05753	T	8	0.10073286	0.18362	T	0.007592	0.20139	T	0.071	0.20720	0.221	0.14371	0.043077524339	0.03247	0.5745721208767423	0.57386	.	.	.	.	.	0.074098	0.34857	T	-0.218113	0.18252	T	-0.551081	0.17221	T	0.461596542215346	0.31223	T	0.577942	0.20808	T	0.20850155	0.43089	0.22350946	0.47232	0.20850155	0.43089	0.22350946	0.47231	-4.75	0.34003	T	.	.	0.116	0.26669	B	.;.	.;.	3.267077	0.44703	22.0	0.96407388076669687	0.29709	0.11280	0.16529	N	ALL	0.206758	0.33299	N	-0.256309566586344	0.30852	1.724257	0.00518552660266288	0.39955	2.376971	0.999999999907742	0.74766	0.516213	0.21343	1	0.624306	0.53593	0	0.651303	0.49530	0	0.564101	0.26826	0	.	.	5.52	4.5	0.54382	2.778000	0.47412	9.471000	0.80872	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:0.8083:0.1917	14.175	0.65071	783	0.47268	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.05556	327.56	85	chr10	106577491	.	G	T	327.56	.	AC=1;AF=0.056;AN=18;BaseQRankSum=-3.205e+00;DP=1636;ExcessHet=0.0000;FS=182.309;InbreedingCoeff=-0.2040;MLEAC=2;MLEAF=0.111;MQ=60.00;MQRankSum=0.00;QD=3.28;ReadPosRankSum=0.874;SOR=6.516	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:75,25:100:99:0|1:106577484_G_T:335,0,2179:106577484	8	0	1	12
chr10	114300208	114300208	C	T	exonic	AFAP1L2	.	nonsynonymous SNV	AFAP1L2:NM_001351075:exon14:c.G1694A:p.R565H	.	.	430	1091	1	0	0	1	0.000458085	.	.	2351032	not_provided|not_specified	MedGen:C3661900|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.29	T	0.995	D	0.751	P	0.330	N	1.000	N	1.245	L	2.55	T	-1.033	T	0.039	T	0.268	1.800	11.98	-0.127	0.158	0.126	7.58	0.016	0.0176723711768	7.7e-05	.	0.0002	0	0	0	0	0.0004	0	0	0.0001746	27	154602	rs200106844	0.0002	0.0002	0.0002	0.0001	4.317e-05	0.0001	0.0001	3.343e-05	2.956e-05	0	0	0.0060	0	0	0	4.317e-05	0.0003	0	0.0002	0.0002	0.0002	0.0002	0.0001	0.0001	0.0001	4.764e-05	3.338e-05	7.237e-05	0	0	0.0061	0	0	0	0.0001	0	0	0.336	0.12878	T	0.396	0.15206	T	0.927	0.54824	P	0.255	0.45685	B	0.329834	0.14132	N	0.676108	1	0.08975	N	1.1	0.28011	L	2.55	0.13795	T	-0.31	0.12099	N	0.26	0.29429	-1.0334	0.19363	T	0.039	0.16677	T	10	0.0050830543	0.00110	T	0.017672	0.39460	T	0.016	0.02506	.	.	0.376393476264	0.37247	0.08914069102995853	0.08847	0.362757554275	0.37925	0.339117199183	0.16306	T	0.012943	0.11287	T	-0.392759	0.02582	T	-0.610265	0.11964	T	0.0303428496439218	0.02043	T	0.851815	0.53646	D	0.033107333	0.03464	0.026690416	0.00773	0.033107333	0.03464	0.026690416	0.00773	-5.715	0.44835	T	.	.	0.122	0.33596	B	.;.	.;.	1.419713	0.18362	13.69	0.97316602681403719	0.33356	0.03628	0.08870	N	AEFGBI	0.054035	0.09790	N	-0.598458809061723	0.18992	0.990488	-0.7330634636545	0.16139	0.8523689	0.920721216933447	0.26644	0.615465	0.37627	0	0.588015	0.36545	0	0.658983	0.55881	0	0.542086	0.14980	0	.	.	5.24	-0.127	0.12851	-0.010000	0.12681	2.071000	0.30443	0.599000	0.40250	0.000000	0.06391	0.065000	0.22112	0.116000	0.19000	0.0:0.4653:0.0:0.5347	7.58	0.27126	700	0.57880	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	911.98	35	chr10	114300208	.	C	T	911.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.372e+00;DP=756;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.72;ReadPosRankSum=0.342;SOR=0.805	GT:AD:DP:GQ:PL	0/1:23,35:58:99:926,0,575	20	0	1	0
chr10	117341050	117341050	C	T	exonic	PDZD8	.	nonsynonymous SNV	PDZD8:NM_173791:exon2:c.G925A:p.E309K,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.26	T	0.104	B	0.024	B	0.101	N	0.919	D	1.04	L	-1.98	D	-0.339	T	0.434	T	0.463	2.178	13.24	5.68	2.837	2.613	15.630	0.304	0.111422988151	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08	0.33585	T	0.284	0.21411	T	0.104	0.25941	B	0.024	0.20255	B	0.100580	0.19880	N	0.530412	0.918501	0.36608	D	1.04	0.26193	L	-1.98	0.85247	D	-0.39	0.13611	N	0.56	0.58458	-0.3391	0.73870	T	0.434	0.77478	T	10	0.2526929	0.42627	T	0.111423	0.78920	D	0.304	0.62510	0.426	0.47185	0.406687239423	0.40287	0.3484412965450981	0.34758	0.878990842918	0.69697	0.551437139511	0.46060	T	0.004486	0.03887	T	0.0534098	0.58780	T	-0.161057	0.58257	T	0.401935211681401	0.29015	T	0.631737	0.24648	T	0.12929	0.30201	0.1091909	0.26311	0.12929	0.30201	0.1091909	0.26311	-4.196	0.26694	T	.	.	0.138	0.30103	B	.	.	2.876239	0.38048	20.6	0.99707916019332055	0.81143	0.81768	0.41106	D	AEFBI	0.402723	0.47670	N	-0.00176634886459942	0.41776	2.504867	0.196643706894966	0.49661	3.166775	0.999999995606444	0.74766	0.706298	0.61202	0	0.708844	0.79440	0	0.688494	0.62686	0	0.613276	0.41899	0	.	.	5.68	5.68	0.88021	2.759000	0.47253	7.612000	0.61951	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:1.0:0.0:0.0	15.630	0.76655	723	0.55174	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.3571	3789.59	132	chr10	117341050	.	C	T	3789.59	.	AC=10;AF=0.357;AN=28;BaseQRankSum=-3.850e+00;DP=2047;ExcessHet=6.1002;FS=296.226;InbreedingCoeff=-0.4737;MLEAC=13;MLEAF=0.464;MQ=60.00;MQRankSum=0.00;QD=2.96;ReadPosRankSum=1.38;SOR=10.499	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:100,45:145:99:0|1:117341048_C_T:442,0,2804:117341048	4	0	10	7
chr10	120355103	120355103	C	A	exonic	RPL21	.	nonsynonymous SNV	RPL21:NM_000982:exon1:c.G81T:p.L27F,	Hypotrichosis 12, Autosomal dominant	.	253	1267	2	0	0	2	0.000788644	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00599042	.	.	.	.	.	.	.	.	0.0018826	49	26028	rs568529073	0.0007	0.0006	0.0008	0.0006	0.0161	0.0006	0.0006	0.0146	0.0140	0.0161	0.0007	0	0	5.608e-05	0.0011	0.0001	0.0018	8.751e-05	0.0048	0.0050	0.0048	0.0049	0.0167	0.0045	0.0044	0.0157	0.0153	0.0167	0	0.0016	0	0	0	0.0034	0.0002	0.0034	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1248.98	34	chr10	120355103	.	C	A	1248.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=5.98;DP=763;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=48.01;MQRankSum=-1.368e+00;QD=17.35;ReadPosRankSum=0.299;SOR=1.059	GT:AD:DP:GQ:PL	0/1:36,36:72:99:1263,0,1064	20	0	1	0
chr10	122980642	122980642	T	C	exonic	PSTK	.	nonsynonymous SNV	PSTK:NM_001363531:exon1:c.T163C:p.Y55H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.13	T	1.0	D	0.998	D	0.000	D	0.996	D	2.34	M	1.6	T	-0.843	T	0.175	T	0.787	3.683	18.72	4.31	1.813	4.720	11.477	0.330	0.020683331378	.	.	1.015e-05	0	0	0	0	0	0	6.995e-05	6.5e-06	1	154602	rs755316915	4.114e-06	5.472e-06	2.728e-06	5.513e-06	5.821e-05	1.48e-06	9.7e-07	2.201e-05	1.435e-05	0	0	0	0	0	0	9e-07	0	5.821e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.998	0.88582	D	0.000001	0.84330	D	0.000000	0.995898	0.42910	D	2.945	0.84822	M	1.6	0.28604	T	-3.8	0.71762	D	0.692	0.75374	-0.8429	0.52453	T	0.175	0.51832	T	10	0.5867786	0.66155	D	0.020683	0.43322	T	0.330	0.65226	0.626	0.76141	0.512481275753	0.50889	0.8687041894488923	0.86835	0.607095407146	0.55527	0.853301882744	0.90111	D	0.194353	0.55010	T	0.11079	0.65435	D	-0.078635	0.65005	T	0.961019992828369	0.65964	D	0.787921	0.42712	T	0.7923649	0.83421	0.7735819	0.86637	0.7923649	0.83423	0.7735819	0.86638	-9.854	0.73033	D	.	.	0.901	0.83541	P	.;.;.	.;.;.	5.021257	0.83447	28.0	0.99470757779535834	0.66312	0.41867	0.26752	N	ALL	0.390943	0.46958	N	0.435994931600165	0.63414	4.574569	0.309694039227911	0.56107	3.773852	1.0	0.98316	0.441713	0.08003	0	0.52208	0.09955	0	0.519653	0.09787	0	0.372554	0.06265	0	.	.	4.31	4.31	0.50718	4.452000	0.59794	.	.	0.665000	0.62972	0.997000	0.40164	1.000000	0.68203	0.707000	0.34357	0.0:0.0:0.0:1.0	11.477	0.49549	930	0.16408	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	474.98	35	chr10	122980642	.	T	C	474.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.89;DP=834;ExcessHet=0.0000;FS=3.334;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=5.05;ReadPosRankSum=-7.290e-01;SOR=1.195	GT:AD:DP:GQ:PL	0/1:70,24:94:99:489,0,1812	20	0	1	0
chr10	122983003	122983003	G	C	exonic	PSTK	.	nonsynonymous SNV	PSTK:NM_001363531:exon2:c.G487C:p.V163L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.004	B	0.022	B	0.000	D	0.958	D	1.825	L	2.91	T	-1.066	T	0.029	T	0.723	2.839	15.46	5.44	2.534	6.005	16.179	0.217	0.00704594610802	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.062	0.48642	T	0.192	0.33554	T	0.004	0.12183	B	0.022	0.19653	B	0.000010	0.62929	D	0.064498	0.958085	0.38057	D	1.76	0.45711	L	2.91	0.10008	T	-0.84	0.22944	N	0.669	0.67736	-1.0661	0.10293	T	0.029	0.12585	T	10	0.50841606	0.61954	D	0.007046	0.18676	T	0.217	0.51112	0.724	0.85850	0.349647731962	0.34572	0.6258530157450021	0.62518	0.263583704205	0.28913	0.645784556866	0.59386	T	0.019375	0.15446	T	-0.000810022	0.51544	T	-0.23894	0.50901	T	0.890971660614014	0.54186	D	0.877812	0.59215	D	0.22272539	0.44877	0.21593522	0.46201	0.22272539	0.44877	0.21593522	0.46200	-10.869	0.78934	D	.	.	0.647	0.71035	P	.;.;.	.;.;.	3.675766	0.52298	23.2	0.99376505445614849	0.61671	0.97325	0.74040	D	AEFBI	0.695338	0.65404	D	-0.0452252440071354	0.39816	2.354205	0.149695039779814	0.47125	2.947556	0.999999870920904	0.74766	0.651	0.46895	0	0.708844	0.79440	0	0.602189	0.34648	0	0.655142	0.61905	0	.	.	5.44	5.44	0.79348	6.097000	0.71099	.	.	0.650000	0.52971	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:1.0:0.0	16.179	0.81701	926	0.17793	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.3947	1430.69	126	chr10	122983003	.	G	C	1430.69	.	AC=15;AF=0.395;AN=38;BaseQRankSum=-1.692e+00;DP=2620;ExcessHet=17.4423;FS=177.818;InbreedingCoeff=-0.5926;MLEAC=15;MLEAF=0.395;MQ=60.00;MQRankSum=0.00;QD=0.87;ReadPosRankSum=0.541;SOR=13.321	GT:AD:DP:GQ:PL	0/1:72,28:101:27:27,0,1150	4	0	15	2
chr10	123137096	123137096	T	G	exonic	HMX3	.	nonsynonymous SNV	HMX3:NM_001105574:exon2:c.T439G:p.S147A,	.	.	198	1323	1	0	0	1	0.000377786	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.38	T	0.055	B	0.024	B	0.000	D	0.938	D	0.695	N	-2.88	D	-0.200	T	0.395	T	0.191	1.391	10.58	4.52	1.900	4.672	13.660	0.260	.	0.0057	0.00419329	0.0020	0.0270	0.0009	0	0	2.076e-05	0	0	0.00152	235	154602	rs199720543	0.0006	0.0006	0.0007	0.0004	0.0203	0.0005	0.0005	0.0191	0.0186	0.0203	0.0010	0	0	0	0.0010	8.1e-06	0.0010	5.826e-05	0.0058	0.0058	0.0062	0.0055	0.0200	0.0055	0.0054	0.0189	0.0185	0.0200	0	0.0030	0	0	0	0	0	0.0052	0	0.005	0.63226	D	0.198	0.27767	T	0.055	0.22733	B	0.024	0.20255	B	0.000015	0.62929	D	0.071220	0.937698	0.37199	D	1.445	0.36358	L	-2.88	0.91533	D	-1.22	0.30964	N	0.403	0.44379	-0.2004	0.77661	T	0.395	0.74793	T	10	0.0074533224	0.00169	T	.	.	.	0.260	0.57221	.	.	0.63791453693	0.63493	0.276970330003286	0.27610	0.589934938662	0.54475	0.812228560448	0.83834	D	0.154282	0.49550	T	-0.321605	0.06767	T	-0.218483	0.52882	T	0.0270844719828975	0.01556	T	0.627137	0.24302	T	0.26210654	0.49271	0.1436873	0.34139	0.26210654	0.49271	0.1436873	0.34138	-3.851	0.21569	T	.	.	0.146	0.32226	B	.	.	3.373698	0.46632	22.3	0.97689503873336359	0.35364	0.97599	0.75810	D	ALL	0.564487	0.57125	D	-0.302342238866392	0.29058	1.608163	-0.155998131582376	0.33178	1.895204	0.999999997930075	0.74766	0.733237	0.96898	0	0.600757	0.49542	0	0.503968	0.08637	0	0.526665	0.08891	0	.	.	4.52	4.52	0.54797	2.620000	0.46075	7.699000	0.66186	0.580000	0.29708	0.997000	0.40164	1.000000	0.68203	0.509000	0.29221	0.0:0.0:0.0:1.0	13.660	0.61836	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	0.02381	911.98	35	chr10	123137096	.	T	G	911.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.120e-01;DP=805;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.81;ReadPosRankSum=-8.570e-01;SOR=0.656	GT:AD:DP:GQ:PL	0/1:51,42:93:99:926,0,1221	20	0	1	0
chr10	124021238	124021238	G	-	exonic	CHST15	.	frameshift deletion	CHST15:NM_001270765:exon6:c.1365delC:p.R456Vfs*28	.	.	593	121	299	273	236	1081	0.777369	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.8095	94292.76	58	chr10	124021236	.	CGG	C,CG,CGGGG	94292.76	.	AC=4,33,1;AF=0.095,0.786,0.024;AN=42;BaseQRankSum=-1.600e-02;DP=3402;ExcessHet=0.6776;FS=23.539;InbreedingCoeff=-0.1053;MLEAC=4,33,1;MLEAF=0.095,0.786,0.024;MQ=59.99;MQRankSum=0.00;QD=27.55;ReadPosRankSum=-1.170e-01;SOR=0.000	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:4,36,3,0:55:79:.:.:1353,0,96,1000,79,1018,1259,205,1121,1378	0	0	1	0
chr10	124021238	124021238	-	GG	exonic	CHST15	.	frameshift insertion	CHST15:NM_001270765:exon6:c.1364_1365insCC:p.R456Pfs*29	.	.	593	121	299	273	236	1081	0.777369	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.8095	94292.76	58	chr10	124021236	.	CGG	C,CG,CGGGG	94292.76	.	AC=4,33,1;AF=0.095,0.786,0.024;AN=42;BaseQRankSum=-1.600e-02;DP=3402;ExcessHet=0.6776;FS=23.539;InbreedingCoeff=-0.1053;MLEAC=4,33,1;MLEAF=0.095,0.786,0.024;MQ=59.99;MQRankSum=0.00;QD=27.55;ReadPosRankSum=-1.170e-01;SOR=0.000	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:4,36,3,0:55:79:.:.:1353,0,96,1000,79,1018,1259,205,1121,1378	0	0	1	0
chr10	124989543	124989543	T	C	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon9:c.A1517G:p.N506S	.	.	430	785	300	7	0	314	0.166667	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.42	B	0.406	B	0.041	N	0.547	N	-0.345	N	-1.58	D	-0.266	T	0.330	T	0.333	1.581	11.24	3.98	0.967	1.940	11.061	0.362	0.0412206901109	.	.	.	.	.	.	.	.	.	.	0.0011526	30	26028	rs75839774	4.107e-06	4.104e-06	5.449e-06	2.752e-06	4.497e-06	1.48e-06	9.7e-07	1.32e-06	9.6e-07	0	0	0	0	0	0	4.497e-06	1.658e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.048	0.61437	D	0.553	0.32461	T	0.017	0.35330	B	0.044	0.44683	B	0.040786	0.24019	N	0.433304	0.546531	0.31369	N	1.1	0.28011	L	-1.58	0.82806	D	-0.98	0.25986	N	0.097	0.39153	-0.2662	0.75916	T	0.330	0.69766	T	10	0.12751639	0.24250	T	0.041221	0.59806	D	0.362	0.68230	0.075	0.00517	0.760080849401	0.75790	0.26369227103169535	0.26282	1.68067603589	0.89969	0.448414385319	0.31727	T	0.157679	0.50038	T	0.0363132	0.56560	T	-0.185615	0.55999	T	0.436808287713247	0.30312	T	0.90311	0.67973	D	0.08655811	0.20123	0.08484771	0.19547	0.08655811	0.20122	0.08484771	0.19547	-2.304	0.04577	T	.	.	0.070	0.03588	B	.;.;.;.;.;.	.;.;.;.;.;.	2.477890	0.31950	18.89	0.9913628706847909	0.53410	0.86806	0.46168	D	AEFDGBCI	0.540087	0.55679	D	-0.275999058280499	0.30077	1.67381	-0.0903501737703044	0.35788	2.074695	0.999999280419097	0.74766	0.722319	0.85440	0	0.00446	0.00028	3	0.702456	0.68683	0	0.735409	0.98432	0	.	.	5.12	3.98	0.45383	2.629000	0.46152	0.448000	0.18493	0.665000	0.62972	1.000000	0.71638	0.999000	0.35428	1.000000	0.97212	0.0:0.0728:0.0:0.9272	11.061	0.47165	940	0.13648	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.4762	25745.43	127	chr10	124989543	.	T	C	25745.43	.	AC=20;AF=0.476;AN=42;BaseQRankSum=-1.935e+00;DP=2756;ExcessHet=43.6797;FS=18.332;InbreedingCoeff=-0.9091;MLEAC=20;MLEAF=0.476;MQ=49.30;MQRankSum=-8.794e+00;QD=9.77;ReadPosRankSum=0.699;SOR=0.186	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:113,35:148:99:0|1:124989533_G_A:839,0,4550:124989533	1	0	20	0
chr10	124989565	124989565	G	-	exonic	CTBP2	.	frameshift deletion	CTBP2:NM_001363508:exon9:c.1495delC:p.Q499Sfs*36	.	.	440	850	230	2	0	234	0.120993	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001537	4	26028	rs146097043	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4762	13474.39	125	chr10	124989564	.	TG	T	13474.39	.	AC=20;AF=0.476;AN=42;BaseQRankSum=-3.297e+00;DP=2881;ExcessHet=43.6797;FS=16.961;InbreedingCoeff=-0.9091;MLEAC=20;MLEAF=0.476;MQ=51.38;MQRankSum=-8.258e+00;QD=5.07;ReadPosRankSum=-1.778e+00;SOR=0.329	GT:AD:DP:GQ:PL	0/1:117,16:133:85:85,0,3784	1	0	20	0
chr10	124994489	124994489	T	G	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon5:c.A964C:p.N322H	.	.	425	876	218	3	0	224	0.11336	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.996	D	0.000	D	1.000	D	2.48	M	-1.64	D	0.598	D	0.722	D	0.666	4.396	23.3	5.36	2.030	7.698	15.357	0.855	0.287995004976	.	.	.	.	.	.	.	.	.	.	.	.	.	rs913075834	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.044	0.53900	D	0.014	0.69154	D	1.0	0.90584	D	0.995	0.84481	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.03	0.86425	M	-1.64	0.82533	D	-4.7	0.80510	D	0.955	0.96416	0.598	0.91868	D	0.722	0.90485	D	10	0.93609107	0.92939	D	0.287995	0.90464	D	0.855	0.95544	0.749	0.87988	0.908261012674	0.90733	0.9221523146368497	0.92192	2.0305426451	0.94091	0.826209723949	0.85982	D	0.743281	0.92907	D	0.230793	0.76796	D	0.0937411	0.76494	D	0.996190285808554	0.88852	D	0.970303	0.89317	D	0.91641486	0.92901	0.8315015	0.90282	0.91641486	0.92902	0.8315015	0.90283	-11.706	0.83405	D	.	.	0.818	0.83534	P	.;.;.;.;.;.	.;.;.;.;.;.	4.739043	0.76411	26.5	0.99694374199735813	0.80180	0.94484	0.61314	D	AEFDGBCI	0.936668	0.93334	D	0.798915340390827	0.86037	8.759083	0.761626191030682	0.87022	9.081087	0.999999999999979	0.74766	0.722319	0.85440	0	0.550933	0.16991	0	0.67197	0.60751	0	0.735409	0.98432	0	.	.	5.36	5.36	0.76624	7.674000	0.83146	7.884000	0.72673	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:0.0:1.0	15.357	0.74148	942	0.12992	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;.;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	7883.4	152	chr10	124994489	.	T	G	7883.4	.	AC=21;AF=0.500;AN=42;BaseQRankSum=1.91;DP=3256;ExcessHet=54.0936;FS=22.490;InbreedingCoeff=-0.9843;MLEAC=21;MLEAF=0.500;MQ=58.49;MQRankSum=-7.468e+00;QD=2.53;ReadPosRankSum=-3.768e+00;SOR=2.918	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:138,15:153:99:0|1:124994489_T_G:214,0,5729:124994489	0	0	21	0
chr10	124994501	124994501	G	A	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon5:c.C952T:p.H318Y	.	.	426	821	272	3	0	278	0.144792	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.11	T	0.868	P	0.701	P	0.000	D	1.000	D	0.5	N	-1.36	T	-0.129	T	0.435	T	0.897	4.262	22.2	5.21	2.428	9.476	18.767	0.771	0.0948171006631	.	.	.	.	.	.	.	.	.	.	.	.	.	rs978705792	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.103	0.42487	T	0.297	0.31125	T	0.868	0.47740	P	0.617	0.54186	P	0.000000	0.84330	D	0.000000	1	0.81001	D	0.11	0.08516	N	-1.36	0.80125	T	-5.44	0.85541	D	0.915	0.92084	-0.1289	0.79427	T	0.435	0.77536	T	10	0.7908057	0.78643	D	0.094817	0.76319	D	0.771	0.92294	0.486	0.56939	0.919217431084	0.91840	0.9252807218489828	0.92505	1.25117579951	0.81802	0.887714266777	0.94973	D	0.545829	0.84532	D	0.352326	0.86659	D	0.268315	0.86483	D	0.94890558719635	0.62996	D	0.972303	0.89961	D	0.826035	0.85629	0.7361207	0.84404	0.826035	0.85631	0.7361207	0.84405	-9.649	0.71784	D	.	.	0.781	0.76420	P	.;.;.;.;.;.	.;.;.;.;.;.	4.665783	0.74522	26.2	0.99760421591352766	0.85011	0.95027	0.63172	D	AEFDGBCI	0.931287	0.91988	D	0.465501566800638	0.65087	4.778689	0.565123419115292	0.72454	5.812716	1.0	0.98316	0.722319	0.85440	0	0.550933	0.16991	0	0.67197	0.60751	0	0.735409	0.98432	0	.	.	5.21	5.21	0.72005	7.771000	0.84203	11.823000	0.97298	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	18.767	0.91839	942	0.12992	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;.;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	11255.74	156	chr10	124994501	.	G	A	11255.74	.	AC=21;AF=0.500;AN=42;BaseQRankSum=-1.168e+00;DP=3468;ExcessHet=54.0936;FS=34.605;InbreedingCoeff=-1.0000;MLEAC=21;MLEAF=0.500;MQ=58.01;MQRankSum=-6.676e+00;QD=3.46;ReadPosRankSum=-2.867e+00;SOR=3.343	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:140,17:157:99:0|1:124994489_T_G:292,0,5827:124994489	0	0	21	0
chr10	124994505	124994505	A	T	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon5:c.T948A:p.H316Q	.	.	423	816	278	5	0	288	0.15	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	0.682	P	0.383	B	0.000	D	1.000	D	-0.56	N	-1.26	T	-0.801	T	0.184	T	0.76	2.740	15.12	1.37	0.279	1.859	8.31	0.476	0.0731369313184	.	.	.	.	.	.	.	.	.	.	.	.	.	rs937366751	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	0.46513	D	0.259	0.44702	T	0.682	0.41464	P	0.219	0.43945	B	0.000000	0.84330	D	0.000000	0.999904	0.50806	D	-0.715	0.01801	N	-1.26	0.79176	T	-6.79	0.93135	D	0.687	0.70000	-0.8006	0.55109	T	0.184	0.53255	T	10	0.5356107	0.63429	D	0.073137	0.71713	D	0.476	0.76816	0.447	0.50629	0.947376611969	0.94682	0.8013614072212495	0.80090	0.902566627065	0.70693	0.888023793697	0.95012	D	0.559992	0.85254	D	0.155552	0.69787	D	-0.0143363	0.69401	D	0.887895047664642	0.53844	D	0.743426	0.36288	T	0.90044665	0.91423	0.7164848	0.83265	0.90044665	0.91424	0.7164848	0.83266	-12.552	0.89160	D	.	.	0.886	0.85521	P	.;.;.;.;.;.	.;.;.;.;.;.	3.763339	0.54010	23.4	0.97895156658106663	0.36704	0.72838	0.35639	D	AEFDGBCI	0.464485	0.51296	N	-0.261912955812249	0.30631	1.70973	-0.146100228405978	0.33558	1.920874	0.999999244525417	0.74766	0.722319	0.85440	0	0.550933	0.16991	0	0.67197	0.60751	0	0.735409	0.98432	0	.	.	5.21	1.37	0.21200	1.883000	0.39293	2.678000	0.33996	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.989000	0.64315	0.5559:0.0:0.4441:0.0	8.31	0.31226	942	0.12992	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;.;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.5	11481.74	156	chr10	124994505	.	A	T	11481.74	.	AC=21;AF=0.500;AN=42;BaseQRankSum=2.11;DP=3557;ExcessHet=54.0936;FS=34.605;InbreedingCoeff=-1.0000;MLEAC=21;MLEAF=0.500;MQ=57.84;MQRankSum=-6.427e+00;QD=3.53;ReadPosRankSum=-2.195e+00;SOR=3.365	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:140,17:157:99:0|1:124994489_T_G:292,0,5770:124994489	0	0	21	0
chr10	124994530	124994530	G	A	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon5:c.C923T:p.S308F	.	.	421	688	403	10	0	423	0.235131	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.995	D	0.000	D	1.000	D	2.82	M	-1.61	D	0.694	D	0.759	D	0.962	4.522	24.3	5.21	2.428	9.476	18.767	0.938	0.47632593724	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs374871777	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.033	0.59928	D	0.001	0.83351	D	1.0	0.90584	D	0.993	0.83170	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.465	0.71551	M	-1.61	0.82254	D	-5.08	0.82896	D	0.976	0.98657	0.694	0.93099	D	0.759	0.91795	D	10	0.9291788	0.92260	D	0.476326	0.94766	D	0.938	0.98636	0.718	0.85319	0.963037453765	0.96263	0.9856555258906051	0.98558	2.08621322631	0.94675	0.860175311565	0.91136	D	0.733508	0.92560	D	0.422049	0.91127	D	0.368468	0.91016	D	0.994980752468109	0.86633	D	0.836416	0.50788	T	0.98504084	0.99469	0.92532665	0.96770	0.98504084	0.99469	0.92532665	0.96771	-14.995	0.96879	D	.	.	0.993	0.95154	P	.;.;.;.;.;.	.;.;.;.;.;.	5.187974	0.87005	29.1	0.99852028210273314	0.93102	0.95134	0.63563	D	AEFDGBCI	0.931287	0.91988	D	0.925236055449727	0.92941	11.72177	0.873600535312142	0.94317	12.66702	1.0	0.98316	0.722319	0.85440	0	0.550933	0.16991	0	0.67197	0.60751	0	0.735409	0.98432	0	.	.	5.21	5.21	0.72005	9.602000	0.97623	11.823000	0.97298	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:1.0:0.0	18.767	0.91839	942	0.12992	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;.;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.5	17751.74	151	chr10	124994530	.	G	A	17751.74	.	AC=21;AF=0.500;AN=42;BaseQRankSum=-3.820e-01;DP=3935;ExcessHet=54.0936;FS=46.204;InbreedingCoeff=-1.0000;MLEAC=21;MLEAF=0.500;MQ=57.24;MQRankSum=-5.975e+00;QD=5.06;ReadPosRankSum=1.22;SOR=3.742	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:151,26:177:99:0|1:124994523_G_A:617,0,6050:124994523	0	0	21	0
chr10	124994542	124994542	C	T	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon5:c.G911A:p.S304N	.	.	418	797	293	14	0	321	0.167624	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.997	D	0.979	D	0.000	D	1.000	D	3.655	H	-1.86	D	0.923	D	0.835	D	0.591	4.999	29.4	5.21	2.428	7.487	18.767	0.881	0.520636706354	.	.	.	.	.	.	.	.	.	.	7.68e-05	2	26028	rs78155918	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.91255	D	0.004	0.79402	D	0.994	0.66517	D	0.972	0.72692	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.19	0.88972	M	-1.86	0.84341	D	-2.9	0.61580	D	0.951	0.95956	0.923	0.96008	D	0.835	0.94461	D	10	0.96767014	0.96284	D	0.520637	0.95441	D	0.881	0.96502	0.859	0.95718	0.8508886717	0.84945	0.9945051231415541	0.99447	1.72531923595	0.90642	0.895219087601	0.95893	D	0.849948	0.96576	D	0.195726	0.73494	D	0.04337	0.73148	D	0.993175552752073	0.83871	D	0.98969	0.96662	D	0.9860643	0.99535	0.9414922	0.97865	0.9860643	0.99535	0.9414922	0.97866	-14.163	0.96648	D	.	.	0.990	0.93538	P	.;.;.;.;.;.	.;.;.;.;.;.	4.768549	0.77163	26.6	0.99793032458852304	0.87839	0.92617	0.56134	D	AEFDGBCI	0.921115	0.89410	D	0.951529578297244	0.94047	12.46209	0.869409228877299	0.94098	12.50256	1.0	0.98316	0.722319	0.85440	0	0.550933	0.16991	0	0.67197	0.60751	0	0.735409	0.98432	0	.	.	5.21	5.21	0.72005	7.568000	0.81546	7.667000	0.64568	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.979000	0.57723	0.0:1.0:0.0:0.0	18.767	0.91839	942	0.12992	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;.;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.5	9863.05	143	chr10	124994542	.	C	T	9863.05	.	AC=20;AF=0.500;AN=40;BaseQRankSum=-2.164e+00;DP=3993;ExcessHet=43.6797;FS=49.168;InbreedingCoeff=-0.9535;MLEAC=21;MLEAF=0.525;MQ=57.04;MQRankSum=-5.810e+00;QD=3.01;ReadPosRankSum=1.99;SOR=3.857	GT:AD:DP:GQ:PL	0/1:138,28:166:99:309,0,3889	0	0	20	1
chr10	124994563	124994563	A	T	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon5:c.T890A:p.L297Q	.	.	408	769	327	18	0	363	0.190952	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.999	D	0.000	D	1.000	D	2.835	M	-1.85	D	0.754	D	0.782	D	0.972	4.559	24.7	5.42	2.054	8.962	15.466	0.960	0.547155886187	.	.	.	.	.	.	.	.	.	.	7.68e-05	2	26028	rs150320719	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.017	0.83351	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	0.999999	0.81001	D	2.835	0.82492	M	-1.85	0.84267	D	-5.78	0.88699	D	0.932	0.93841	0.754	0.93845	D	0.782	0.92582	D	10	0.9727028	0.96922	D	0.547156	0.95809	D	0.960	0.99376	0.857	0.95604	0.951774941741	0.95126	0.9701566259621512	0.97004	2.04308220201	0.94282	0.848910570145	0.89450	D	0.853663	0.96692	D	0.45783	0.92829	D	0.419864	0.92740	D	0.999412894248962	0.97310	D	0.830117	0.49576	T	0.9576254	0.97040	0.9405844	0.97806	0.9576254	0.97041	0.9405844	0.97806	-13.719	0.92108	D	.	.	0.992	0.94272	P	.;.;.;.;.;.	.;.;.;.;.;.	5.061375	0.84364	28.3	0.99631799569558666	0.76081	0.94544	0.61510	D	AEFDGBCI	0.948042	0.95924	D	0.879361810884359	0.90712	10.53043	0.831570877214738	0.91895	11.12529	0.999999999999983	0.74766	0.722319	0.85440	0	0.550933	0.16991	0	0.67197	0.60751	0	0.735409	0.98432	0	.	.	5.42	5.42	0.78666	8.947000	0.92735	11.208000	0.89295	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	1.0:0.0:0.0:0.0	15.466	0.75135	942	0.12992	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;.;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.5	11569.05	148	chr10	124994563	.	A	T	11569.05	.	AC=20;AF=0.500;AN=40;BaseQRankSum=-2.224e+00;DP=4131;ExcessHet=43.6797;FS=57.159;InbreedingCoeff=-0.9535;MLEAC=21;MLEAF=0.525;MQ=56.94;MQRankSum=-6.032e+00;QD=3.36;ReadPosRankSum=3.18;SOR=4.119	GT:AD:DP:GQ:PL	0/1:140,36:176:99:488,0,3946	0	0	20	1
chr10	124994577	124994577	C	A	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon5:c.G876T:p.Q292H	.	.	408	580	516	18	0	552	0.32243	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.996	D	0.954	D	0.000	D	1.000	D	0.535	N	-1.71	D	0.130	D	0.526	D	0.874	4.527	24.4	4.51	1.255	3.829	13.270	0.696	0.0892909269972	.	.	.	.	.	.	.	.	.	.	0.0001153	3	26028	rs80025996	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	0.63226	D	0.087	0.69154	T	0.964	0.68779	D	0.898	0.69447	P	0.000000	0.84330	D	0.000000	0.999957	0.58761	D	0.49	0.13296	N	-1.71	0.83815	D	-3.39	0.66896	D	0.743	0.76111	0.130	0.84714	D	0.526	0.82375	D	10	0.69303375	0.71973	D	0.089291	0.75298	D	0.696	0.89007	0.404	0.43573	0.949204094444	0.94866	0.8408413105034186	0.84044	1.71814521226	0.90529	0.835075438023	0.87341	D	0.524087	0.83410	D	0.323687	0.84732	D	0.227177	0.84532	D	0.984627544879913	0.75871	D	0.969203	0.88895	D	0.8669297	0.88620	0.72212815	0.83591	0.8669297	0.88622	0.72212815	0.83592	-9.982	0.77738	D	.	.	0.579	0.68002	P	.;.;.;.;.;.	.;.;.;.;.;.	4.008335	0.59116	24.1	0.99735057696966967	0.83047	0.87870	0.47561	D	AEFDGBCI	0.735142	0.68105	D	0.394708730247093	0.61135	4.310599	0.421330055103997	0.62895	4.513037	0.999999999997443	0.74766	0.722319	0.85440	0	0.550933	0.16991	0	0.67197	0.60751	0	0.735409	0.98432	0	.	.	5.42	4.51	0.54589	3.891000	0.55940	4.055000	0.41540	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.9224:0.0:0.0776	13.270	0.59589	942	0.12992	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;.;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.5	27377.74	154	chr10	124994577	.	C	A	27377.74	.	AC=21;AF=0.500;AN=42;BaseQRankSum=-4.280e+00;DP=4255;ExcessHet=54.0936;FS=61.004;InbreedingCoeff=-1.0000;MLEAC=21;MLEAF=0.500;MQ=56.96;MQRankSum=-6.569e+00;QD=7.23;ReadPosRankSum=2.73;SOR=4.019	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:146,36:182:99:0|1:124994577_C_A:1072,0,5904:124994577	0	0	21	0
chr10	124998077	124998077	C	G	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon4:c.G656C:p.W219S	.	.	411	908	195	8	0	211	0.104095	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.995	D	0.972	D	0.000	D	1.000	D	0.21	N	-1.24	T	0.015	D	0.436	T	0.965	4.582	24.9	4.73	2.329	7.484	18.072	0.729	0.132665301415	.	.	.	.	.	.	.	.	.	.	.	.	.	rs921417861	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.039	0.49613	D	0.251	0.48855	T	0.932	0.67487	P	0.903	0.72692	P	0.000000	0.84330	D	0.000000	1	0.81001	D	0.73	0.18813	N	-1.24	0.78967	T	-13.16	0.99944	D	0.816	0.82660	0.015	0.82548	D	0.436	0.77612	T	10	0.8384273	0.82996	D	0.132665	0.81500	D	0.729	0.90501	0.42	0.46200	0.916186859433	0.91534	0.939893042578689	0.93970	2.15981024662	0.95367	0.902819037437	0.96746	D	0.566519	0.85577	D	0.361391	0.87361	D	0.281337	0.87198	D	0.999315857887268	0.96929	D	0.787421	0.42665	T	0.9529722	0.96568	0.9167839	0.96171	0.9529722	0.96569	0.9167839	0.96171	-13.048	0.91030	D	.	.	0.987	0.92737	P	.;.;.;.;.;.	.;.;.;.;.;.	5.895887	0.93981	33	0.99155191442297097	0.53931	0.92847	0.56691	D	AEFDGBCI	0.944592	0.95186	D	0.526305507094081	0.68652	5.246556	0.569067646848623	0.72734	5.856765	0.999999999999998	0.74766	0.67177	0.52595	0	0.550933	0.16991	0	0.697927	0.64325	0	0.711	0.71501	0	.	.	4.73	4.73	0.59485	7.565000	0.81337	5.908000	0.50981	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.965000	0.52897	0.0:1.0:0.0:0.0	18.072	0.89338	928	0.17405	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;.;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4091	2613.45	155	chr10	124998077	.	C	G	2613.45	.	AC=9;AF=0.409;AN=22;BaseQRankSum=-1.989e+00;DP=3731;ExcessHet=4.7172;FS=12.784;InbreedingCoeff=-0.5000;MLEAC=13;MLEAF=0.591;MQ=58.72;MQRankSum=-8.708e+00;QD=1.59;ReadPosRankSum=1.79;SOR=1.898	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:203,18:221:99:0|1:124998077_C_G:145,0,8419:124998077	2	0	9	10
chr10	124998080	124998080	G	C	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon4:c.C653G:p.T218R	.	.	411	907	195	9	0	213	0.105081	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.12	T	1.0	D	0.994	D	0.000	D	1.000	D	0.17	N	-1.31	T	0.036	D	0.482	T	0.76	4.180	21.6	4.73	2.329	9.471	18.072	0.679	0.0475041477189	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.297	0.53900	T	0.336	0.34124	T	0.999	0.90584	D	0.989	0.81110	D	0.000000	0.84330	D	0.000000	1	0.81001	D	0.54	0.13725	N	-1.31	0.79666	T	-3.5	0.68298	D	0.928	0.95139	0.036	0.82969	D	0.482	0.80205	T	10	0.8320574	0.82367	D	0.047504	0.62952	D	0.679	0.88205	0.598	0.72862	0.765312620283	0.76316	0.9505245979181556	0.95036	2.12633044952	0.95074	0.794296979904	0.81096	T	0.503085	0.82273	D	0.222721	0.76033	D	0.0821472	0.75720	D	0.938564615564625	0.60928	D	0.79772	0.44184	T	0.9565074	0.96926	0.8445915	0.91143	0.9565074	0.96926	0.8445915	0.91143	-16.429	0.98336	D	.	.	0.949	0.86814	P	.;.;.;.;.;.	.;.;.;.;.;.	5.668071	0.92919	33	0.99401680195169373	0.62841	0.95078	0.63357	D	AEFDGBCI	0.948544	0.96027	D	0.585474125636482	0.72268	5.778968	0.626633119523619	0.76879	6.573287	0.999999999999998	0.74766	0.67177	0.52595	0	0.550933	0.16991	0	0.697927	0.64325	0	0.711	0.71501	0	.	.	4.73	4.73	0.59485	9.597000	0.97445	8.536000	0.77474	0.672000	0.70159	1.000000	0.71638	1.000000	0.68203	0.972000	0.54974	0.0:0.0:1.0:0.0	18.072	0.89338	928	0.17405	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;.;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.4091	2556.39	158	chr10	124998080	.	G	C	2556.39	.	AC=9;AF=0.409;AN=22;BaseQRankSum=-9.380e-01;DP=3732;ExcessHet=4.7172;FS=9.991;InbreedingCoeff=-0.5000;MLEAC=13;MLEAF=0.591;MQ=58.72;MQRankSum=-8.738e+00;QD=1.54;ReadPosRankSum=2.17;SOR=1.884	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:204,18:222:99:0|1:124998077_C_G:142,0,8471:124998077	2	0	9	10
chr10	124998087	124998087	T	C	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon4:c.A646G:p.R216G	.	.	414	922	177	9	0	195	0.0956351	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.967	D	0.834	P	0.000	D	1.000	D	0.605	N	-1.44	T	-0.139	T	0.443	T	0.98	3.339	17.24	0.468	-0.119	-0.061	17.140	0.592	0.187163960256	.	.	.	.	.	.	.	.	.	.	.	.	.	rs914098337	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.132	0.46513	T	0.114	0.50226	T	0.889	0.56408	P	0.532	0.59825	P	0.000000	0.84330	D	0.000000	0.999931	0.51612	D	1.53	0.38800	L	-1.44	0.80815	T	-6.41	0.91868	D	0.945	0.95491	-0.1393	0.79182	T	0.443	0.78033	T	10	0.8510742	0.84286	D	0.187164	0.85921	D	0.592	0.83747	0.59	0.71874	0.975786130339	0.97552	0.9668684472081748	0.96674	1.31579442616	0.83326	0.803737461567	0.82533	D	0.582432	0.86347	D	0.299844	0.82957	D	0.192928	0.82736	D	0.96776270866394	0.68017	D	0.831417	0.49863	T	0.8377413	0.86447	0.72207403	0.83588	0.8377413	0.86448	0.72207403	0.83589	-13.47	0.92423	D	.	.	0.990	0.93663	P	.;.;.;.;.;.	.;.;.;.;.;.	3.151647	0.42666	21.6	0.99467938748563089	0.66154	0.20835	0.21186	N	AEFDGBCI	0.404313	0.47765	N	-0.449297695031707	0.23763	1.278434	-0.489554569803757	0.22440	1.218867	0.999987001428746	0.51787	0.67177	0.52595	0	0.550933	0.16991	0	0.697927	0.64325	0	0.711	0.71501	0	.	.	4.73	0.468	0.15943	-0.037000	0.12116	0.229000	0.16167	-0.876000	0.02500	0.022000	0.19841	0.016000	0.20520	0.945000	0.48827	0.0:0.0:0.2754:0.7246	17.140	0.86628	928	0.17405	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;.;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.4091	2505.45	158	chr10	124998087	.	T	C	2505.45	.	AC=9;AF=0.409;AN=22;BaseQRankSum=-1.870e+00;DP=3764;ExcessHet=4.7172;FS=12.587;InbreedingCoeff=-0.5000;MLEAC=13;MLEAF=0.591;MQ=58.73;MQRankSum=-8.711e+00;QD=1.49;ReadPosRankSum=3.13;SOR=1.910	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:207,18:225:99:0|1:124998077_C_G:133,0,8638:124998077	2	0	9	10
chr10	124998090	124998090	G	A	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon4:c.C643T:p.R215W	.	.	413	929	171	9	0	189	0.0923302	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.998	D	0.000	D	1.000	D	3.345	M	-2.1	D	0.927	D	0.842	D	0.994	4.577	24.9	4.73	2.329	2.969	18.072	0.874	0.341150234986	.	.	.	.	.	.	.	.	.	.	.	.	.	rs945665113	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.026	0.59928	D	0.005	0.74150	D	1.0	0.90584	D	0.994	0.88582	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.78	0.95251	H	-2.1	0.86146	D	-7.06	0.95511	D	0.966	0.98840	0.927	0.96063	D	0.842	0.94722	D	10	0.9513125	0.94468	D	0.34115	0.92018	D	0.874	0.96243	0.801	0.92017	0.936821863726	0.93617	0.9793425394167631	0.97925	2.04020034352	0.94242	0.869401991367	0.92483	D	0.888608	0.97719	D	0.413835	0.90693	D	0.356669	0.90576	D	0.995111286640167	0.86855	D	0.922308	0.71764	D	0.9076591	0.92078	0.81096756	0.88961	0.9076591	0.92079	0.81096756	0.88962	-12.412	0.89971	D	.	.	0.994	0.94938	P	.;.;.;.;.;.	.;.;.;.;.;.	5.386720	0.90260	31	0.99921174864262352	0.98787	0.83216	0.42352	D	AEFDGBCI	0.811773	0.73467	D	0.762974766057605	0.83747	8.099164	0.668520105960494	0.79996	7.201961	0.999999999894642	0.74766	0.67177	0.52595	0	0.550933	0.16991	0	0.697927	0.64325	0	0.711	0.71501	0	.	.	4.73	4.73	0.59485	2.889000	0.48300	4.484000	0.43545	-0.120000	0.14102	1.000000	0.71638	1.000000	0.68203	0.964000	0.52637	0.0:0.0:1.0:0.0	18.072	0.89338	928	0.17405	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;.;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.4091	2454.45	160	chr10	124998090	.	G	A	2454.45	.	AC=9;AF=0.409;AN=22;BaseQRankSum=-6.220e-01;DP=3768;ExcessHet=4.7172;FS=12.587;InbreedingCoeff=-0.5000;MLEAC=13;MLEAF=0.591;MQ=58.75;MQRankSum=-8.818e+00;QD=1.45;ReadPosRankSum=3.67;SOR=1.910	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:205,18:223:99:0|1:124998077_C_G:139,0,8533:124998077	2	0	9	10
chr10	124998111	124998111	A	C	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon4:c.T622G:p.C208G	.	.	410	944	157	11	0	179	0.0865989	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.14	T	0.792	P	0.742	P	0.000	D	1.000	D	-2.125	N	-1.16	T	-0.313	T	0.196	T	0.932	4.200	21.8	4.73	1.888	8.957	14.522	0.706	0.118222220686	.	.	.	.	.	.	.	.	.	.	.	.	.	rs796159102	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.126	0.28271	T	0.677	0.30045	T	0.792	0.44688	P	0.742	0.55764	P	0.000000	0.84330	D	0.000000	1	0.81001	D	-0.895	0.01383	N	-1.16	0.78082	T	-10.62	0.99118	D	0.915	0.92084	-0.3132	0.74615	T	0.196	0.55013	T	10	0.8713615	0.86403	D	0.118222	0.79821	D	0.706	0.89468	0.702	0.83869	0.912513623049	0.91163	0.9715165431574718	0.97140	1.07786358497	0.77034	0.792436718941	0.80814	T	0.566859	0.85593	D	0.34296	0.86036	D	0.254862	0.85852	D	0.979450762271881	0.72840	D	0.749425	0.37065	T	0.9582798	0.97106	0.86085767	0.92237	0.9582798	0.97106	0.86085767	0.92238	-11.17	0.90895	D	.	.	0.677	0.72022	P	.;.;.;.;.;.	.;.;.;.;.;.	4.908805	0.80750	27.4	0.97552676337226596	0.34577	0.93781	0.59173	D	AEFDGBCI	0.967747	0.99022	D	-0.0331808542601439	0.40357	2.395268	0.177505344340639	0.48618	3.075226	0.999999999998707	0.74766	0.67177	0.52595	0	0.550933	0.16991	0	0.697927	0.64325	0	0.711	0.71501	0	.	.	4.73	4.73	0.59485	8.942000	0.92506	11.101000	0.86122	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.839000	0.39591	1.0:0.0:0.0:0.0	14.522	0.67442	928	0.17405	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;.;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.4091	2457.45	157	chr10	124998111	.	A	C	2457.45	.	AC=9;AF=0.409;AN=22;BaseQRankSum=-1.854e+00;DP=3819;ExcessHet=4.7172;FS=10.323;InbreedingCoeff=-0.5000;MLEAC=13;MLEAF=0.591;MQ=58.76;MQRankSum=-8.818e+00;QD=1.45;ReadPosRankSum=4.32;SOR=1.742	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:188,18:206:99:0|1:124998111_A_C:190,0,7820:124998111	2	0	9	10
chr10	124998113	124998113	A	G	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon4:c.T620C:p.I207T	.	.	407	952	152	11	0	174	0.0837344	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.071	B	0.56	P	0.006	N	0.988	D	2.42	M	0.83	T	-0.464	T	0.283	T	0.768	3.273	16.99	4.73	1.888	7.155	14.522	0.345	0.0441406922816	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs376695472	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.029	0.49117	D	0.018	0.63109	D	0.009	0.16609	B	0.245	0.43514	B	0.005992	0.32354	N	0.362203	0.988384	0.40754	D	1.57	0.39626	L	0.83	0.47815	T	-2.71	0.62630	D	0.584	0.63544	-0.4637	0.69944	T	0.283	0.65458	T	10	0.6084408	0.67308	D	0.044141	0.61343	D	0.345	0.66676	0.751	0.88155	0.737279644149	0.73493	0.9229225010523135	0.92269	2.07736266856	0.94533	0.59366941452	0.52011	T	0.642362	0.89048	D	0.0826065	0.62345	D	-0.119118	0.61876	T	0.971555709838867	0.69361	D	0.751225	0.37284	T	0.56677717	0.70883	0.3280792	0.58700	0.56677717	0.70884	0.3280792	0.58699	-8.556	0.67961	D	.	.	0.481	0.69086	A	.;.;.;.;.;.	.;.;.;.;.;.	3.559859	0.50089	22.9	0.99260520779104144	0.57188	0.90885	0.52445	D	AEFDGBCI	0.920892	0.89354	D	0.260421526544683	0.54157	3.581951	0.337703125837148	0.57769	3.944058	0.999999999998707	0.74766	0.67177	0.52595	0	0.550933	0.16991	0	0.697927	0.64325	0	0.711	0.71501	0	.	.	4.73	4.73	0.59485	7.143000	0.76935	7.993000	0.76119	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.563000	0.30483	1.0:0.0:0.0:0.0	14.522	0.67442	928	0.17405	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;.;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4091	2409.45	160	chr10	124998113	.	A	G	2409.45	.	AC=9;AF=0.409;AN=22;BaseQRankSum=-1.285e+00;DP=3825;ExcessHet=4.7172;FS=8.581;InbreedingCoeff=-0.5000;MLEAC=13;MLEAF=0.591;MQ=58.76;MQRankSum=-8.818e+00;QD=1.41;ReadPosRankSum=4.07;SOR=1.744	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:190,18:208:99:0|1:124998111_A_C:184,0,7863:124998111	2	0	9	10
chr10	125027401	125027401	A	T	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_022802:exon1:c.T359A:p.V120E,	.	.	434	1072	15	1	0	17	0.00786673	.	.	2809740	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.09	T	0.095	B	0.032	B	0.000	N	1.000	N	.	.	-3.25	D	-0.275	T	0.619	D	0.132	0.695	7.713	-8.69	-1.799	-0.314	9.598	0.212	0.0590307634611	0.0012	0.00179712	0.0027	0.0002	0.0021	0.0001	0	0.0021	0.0055	0.0093	0.0003622	56	154602	rs145765785	0.0017	0.0017	0.0014	0.0020	0.0206	0.0016	0.0016	0.0176	0.0165	0.0004	0.0022	0.0186	0	0	0.0206	0.0007	0.0031	0.0086	0.0015	0.0015	0.0014	0.0016	0.0085	0.0014	0.0013	0.0064	0.0057	0.0001	0	0.0014	0.0205	0	0	0.0102	0.0013	0.0028	0.0085	0.089	0.32141	T	0.281	0.21612	T	0.095	0.25437	B	0.032	0.22131	B	0.000008	0.00162	N	31.999700	1	0.08975	N	.	.	.	-3.25	0.93532	D	-0.21	0.10308	N	0.192	0.21056	-0.2750	0.75676	T	0.619	0.86572	D	9	0.00432235	0.00087	T	0.059031	0.67525	D	0.212	0.50341	.	.	0.45964064346	0.45589	0.0817645669245146	0.08111	0.176838138355	0.19898	0.313767671585	0.12477	T	.	.	.	-0.398383	0.02373	T	-0.33877	0.40484	T	0.0334856584668159	0.02551	T	0.30297	0.05734	T	.	.	.	.	.	.	.	.	-3.455	0.15807	T	.	.	0.100	0.16973	B	.	.	-1.128471	0.00608	0.016	0.6511562735489177	0.07682	0.13039	0.17628	N	AEFDBCI	0.174456	0.30158	N	-1.36632051535727	0.02959	0.1314718	-1.53629873574645	0.02072	0.09473427	0.999999986112731	0.74766	0.497415	0.19182	0	0.59043	0.45803	0	0.633826	0.45126	0	0.491896	0.07777	0	.	.	4.54	-8.69	0.00741	0.108000	0.15232	-1.646000	0.04994	-0.533000	0.04955	0.000000	0.06391	0.000000	0.08366	0.010000	0.09038	0.1958:0.1919:0.6123:0.0	9.598	0.38752	918	0.19598	.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.07143	4432.68	42	chr10	125027401	.	A	T	4432.68	.	AC=3;AF=0.071;AN=42;BaseQRankSum=1.25;DP=1234;ExcessHet=0.3300;FS=3.262;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=9.98;ReadPosRankSum=-3.200e-01;SOR=0.664	GT:AD:DP:GQ:PL	0/1:113,51:164:99:1191,0,3030	18	0	3	0
chr10	125807469	125807469	T	A	exonic	UROS	.	nonsynonymous SNV	UROS:NM_000375:exon6:c.A338T:p.D113V	Porphyria, congenital erythropoietic, Autosomal recessive	.	0	1488	34	0	0	34	0.0112957	.	.	321166	not_provided|Cutaneous_porphyria|UROS-related_disorder	MedGen:C3661900|MONDO:MONDO:0009902,MedGen:C0162530,OMIM:263700,Orphanet:79277|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.31	T	0.0	B	0.001	B	0.767	N	1.000	N	0.35	N	-3.07	D	-0.636	T	0.386	T	0.53	0.655	7.515	2.19	0.787	0.219	0.848	0.398	.	0.0052	0.00778754	0.0092	0.0008	0.0012	0	0.0048	0.0055	0.0111	0.0418	0.0086739	1341	154602	rs117926090	0.0082	0.0082	0.0071	0.0093	0.0416	0.0080	0.0080	0.0405	0.0400	0.0007	0.0011	0.0010	0.0001	0.0044	0.0057	0.0069	0.0055	0.0416	0.0048	0.0048	0.0045	0.0052	0.0422	0.0045	0.0044	0.0375	0.0357	0.0010	0.0208	0.0010	0.0014	0	0.0039	0.0068	0.0059	0.0024	0.0422	0.363	0.11807	T	0.37	0.17372	T	0.0	0.02946	B	0.001	0.04355	B	0.767036	0.09576	N	0.904543	0.999851	0.20048	N	-0.32	0.03561	N	-3.07	0.92508	D	-1.35	0.34795	N	0.138	0.18239	-0.6361	0.63312	T	0.386	0.74172	T	10	0.003699392	0.00068	T	.	.	.	0.398	0.71242	.	.	0.617760060724	0.61466	0.4644666410874292	0.46365	0.125476709749	0.14146	0.248602688313	0.03622	T	0.558402	0.85174	D	-0.287548	0.09885	T	-0.157251	0.58598	T	0.00836944697873408	0.00101	T	0.687731	0.30434	T	0.21969995	0.44509	0.08842274	0.20615	0.17819162	0.38825	0.0805548	0.18231	-5.566	0.42481	T	0.15677322283356787	0.18885	0.084	0.19357	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	1.762237	0.22416	15.61	0.87410245568225997	0.17207	0.03195	0.08186	N	AEFBI	0.040720	0.06096	N	-0.733036760622332	0.15097	0.7579257	-0.643917497332371	0.18371	0.9810512	0.791663498764809	0.24026	0.732398	0.92422	0	0.743671	0.97443	0	0.724815	0.87919	0	0.727631	0.95156	0	.	.	4.62	2.19	0.26890	0.158000	0.16239	1.207000	0.24879	0.665000	0.62972	0.000000	0.06391	0.023000	0.20922	0.992000	0.67800	0.1805:0.1243:0.2144:0.4808	0.848	0.01092	892	0.26670	Tetrapyrrole biosynthesis, uroporphyrinogen III synthase|Tetrapyrrole biosynthesis, uroporphyrinogen III synthase;Tetrapyrrole biosynthesis, uroporphyrinogen III synthase|Tetrapyrrole biosynthesis, uroporphyrinogen III synthase;Tetrapyrrole biosynthesis, uroporphyrinogen III synthase|Tetrapyrrole biosynthesis, uroporphyrinogen III synthase;.;.;Tetrapyrrole biosynthesis, uroporphyrinogen III synthase|Tetrapyrrole biosynthesis, uroporphyrinogen III synthase;Tetrapyrrole biosynthesis, uroporphyrinogen III synthase|Tetrapyrrole biosynthesis, uroporphyrinogen III synthase;Tetrapyrrole biosynthesis, uroporphyrinogen III synthase|Tetrapyrrole biosynthesis, uroporphyrinogen III synthase	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.02381	1836.98	34	chr10	125807469	.	T	A	1836.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.218e+00;DP=881;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.41;ReadPosRankSum=0.742;SOR=0.655	GT:AD:DP:GQ:PL	0/1:76,85:161:99:1851,0,1814	20	0	1	0
chr10	126101084	126101084	G	A	exonic	ADAM12	.	nonsynonymous SNV	ADAM12:NM_001288973:exon9:c.C899T:p.A300V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.000	D	1.000	D	1.765	L	-0.37	T	-0.120	T	0.452	T	0.863	4.394	23.3	5.32	2.767	7.692	19.192	0.622	0.0359029064672	.	.	8.249e-06	0	0	0	0	0	0	6.069e-05	6.5e-06	1	154602	rs770769845	3.421e-06	3.42e-06	4.084e-06	2.751e-06	2.32e-05	1e-06	7.3e-07	3.85e-06	1.44e-06	0	0	0	0	1.872e-05	0	1.799e-06	0	2.32e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	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	2.155	0.60227	M	-0.37	0.68892	T	-3.69	0.72120	D	0.898	0.89800	-0.1205	0.79622	T	0.452	0.78573	T	10	0.97593105	0.97361	D	0.035903	0.56650	D	0.622	0.85354	0.905	0.97985	0.826357589817	0.82471	0.8900877691373105	0.88978	0.837554924303	0.67874	0.693823516369	0.66255	T	0.554296	0.84964	D	0.311229	0.83836	D	0.209283	0.83626	D	0.994117975234985	0.85224	D	0.916908	0.79272	D	0.80140114	0.83995	0.8413401	0.90927	0.80140114	0.83997	0.8413401	0.90927	-13.31	0.90600	D	.	.	0.460	0.62689	A	.;.	.;.	4.738657	0.76397	26.5	0.99905145798201966	0.97576	0.98945	0.88990	D	AEFBI	0.924387	0.90233	D	0.572348320640341	0.71452	5.653165	0.480903805059984	0.66724	4.989711	0.999999999999996	0.74766	0.446893	0.09132	0	0.547309	0.14657	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	5.32	5.32	0.75377	8.021000	0.89136	11.717000	0.94751	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.186000	0.21481	0.0:0.0:1.0:0.0	19.192	0.93658	845	0.36510	Peptidase M12B, ADAM/reprolysin|Peptidase M12B, ADAM/reprolysin|Reprolysin domain, adamalysin-type;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1490.98	34	chr10	126101084	.	G	A	1490.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.88;DP=868;ExcessHet=0.0000;FS=4.003;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.07;ReadPosRankSum=-1.170e+00;SOR=0.365	GT:AD:DP:GQ:PL	0/1:51,55:106:99:1505,0,1201	20	0	1	0
chr10	126118141	126118141	T	C	exonic	ADAM12	.	nonsynonymous SNV	ADAM12:NM_001288973:exon6:c.A500G:p.K167R	.	.	423	1090	9	0	0	9	0.00411147	.	.	712225	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0	D	0.213	B	0.108	B	0.001	N	1.000	N	0	N	4.85	T	-1.036	T	0.021	T	0.162	1.979	12.57	5.03	2.118	2.770	10.052	0.102	.	0.0040	0.00259585	0.0011	0.0114	0.0006	0	0	1.498e-05	0	6.058e-05	0.0009702	150	154602	rs112264074	0.0004	0.0004	0.0004	0.0003	0.0123	0.0004	0.0004	0.0113	0.0109	0.0123	0.0007	0	0	0	0.0009	4.137e-05	0.0012	0.0001	0.0036	0.0036	0.0037	0.0035	0.0124	0.0033	0.0032	0.0115	0.0112	0.0124	0	0.0013	0	0	0	0	0.0001	0.0009	0.0002	0.02	0.78490	D	0.046	0.53072	D	0.078	0.30041	B	0.035	0.31289	B	0.001116	0.40219	N	0.202357	1	0.08975	N	1.61	0.41143	L	4.85	0.20255	T	-1.02	0.26843	N	0.26	0.29429	-1.0361	0.18513	T	0.021	0.08686	T	10	0.003543526	0.00064	T	.	.	.	0.102	0.29158	.	.	0.40032279838	0.39643	0.4729381683582225	0.47212	0.186440988657	0.20951	0.256199717522	0.04448	T	0.215579	0.57750	T	-0.537096	0.00348	T	-0.53389	0.18899	T	0.0319911370483661	0.02305	T	0.705929	0.33194	T	0.068910375	0.15052	0.07552464	0.16636	0.068910375	0.15052	0.07552464	0.16636	-4.296	0.28121	T	.	.	0.065	0.02370	B	.;.;.	.;.;.	2.031393	0.25816	16.90	0.98962855959820717	0.49364	0.17807	0.19996	N	AEFGBI	0.198662	0.32551	N	-0.600540033992631	0.18929	0.9866742	-0.558416835079851	0.20582	1.10958	0.999964642936764	0.48965	0.553676	0.25195	0	0.573888	0.26702	0	0.547309	0.15389	0	0.620846	0.47308	0	.	.	5.03	5.03	0.67015	2.967000	0.48908	5.007000	0.46640	0.665000	0.62972	0.131000	0.23362	0.943000	0.28828	0.002000	0.04165	0.0:0.0:0.1686:0.8314	10.052	0.41394	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	0.04762	2303.11	34	chr10	126118141	.	T	C	2303.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-2.200e-01;DP=868;ExcessHet=0.1072;FS=2.445;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=59.95;MQRankSum=0.00;QD=11.63;ReadPosRankSum=-3.880e-01;SOR=0.554	GT:AD:DP:GQ:PL	0/1:48,61:109:99:1450,0,1146	19	0	2	0
chr10	126464782	126464782	A	G	exonic	C10orf90	.	nonsynonymous SNV	C10orf90:NM_001004298:exon4:c.T1448C:p.F483S	.	.	425	1095	2	0	0	2	0.000912409	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	D	0.215	B	0.069	B	0.995	N	0.993	D	0.69	N	2.23	T	-1.083	T	0.025	T	0.149	1.172	9.768	4.44	1.865	1.304	11.200	0.071	0.00801001120175	7.7e-05	0.000399361	0.0002	0	0.0003	0	0	0.0003	0.0022	0.0002	0.000194	30	154602	rs144737013	0.0001	0.0001	9.937e-05	0.0001	0.0028	0.0001	0.0001	0.0017	0.0014	2.987e-05	0.0004	0.0017	0	0	0.0028	4.856e-05	0.0003	0.0004	0.0001	0.0001	0.0001	0.0002	0.0004	9.742e-05	8.256e-05	8.87e-05	5.282e-05	2.408e-05	0	0.0003	0.0026	0	0	0	8.822e-05	0	0.0004	0.002	0.72154	D	0.006	0.70582	D	0.215	0.30128	B	0.069	0.27757	B	0.994674	0.08007	N	0.996520	0.992938	0.41786	D	1.39	0.34934	L	2.23	0.18083	T	-0.54	0.19509	N	0.085	0.07535	-1.0829	0.06795	T	0.025	0.10598	T	10	0.010611415	0.00235	T	0.00801	0.21239	T	0.071	0.20720	.	.	0.218112801441	0.21410	0.1666848352514686	0.16588	0.176264106329	0.19841	.	.	.	0.004741	0.13319	T	-0.466777	0.00891	T	-0.586303	0.13988	T	0.0614712516585581	0.07398	T	0.639636	0.25265	T	0.2597068	0.49024	0.20430094	0.44548	0.2597068	0.49024	0.20430094	0.44547	-1.677	0.02170	T	.	.	0.131	0.31658	B	.;.;.	.;.;.	1.302348	0.17042	12.92	0.98646489420257966	0.44123	0.14130	0.18239	N	AEFGI	0.105714	0.21115	N	-0.573649428483817	0.19749	1.035988	-0.56380640612465	0.20439	1.101238	0.999881670905297	0.44867	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.44	4.44	0.53164	1.384000	0.34003	0.763000	0.21331	0.743000	0.86499	0.001000	0.13787	0.000000	0.08366	0.884000	0.42379	1.0:0.0:0.0:0.0	11.200	0.47967	620	0.66037	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2015.98	35	chr10	126464782	.	A	G	2015.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.337e+00;DP=819;ExcessHet=0.0000;FS=2.349;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.39;ReadPosRankSum=0.233;SOR=0.495	GT:AD:DP:GQ:PL	0/1:55,76:131:99:2030,0,1492	20	0	1	0
chr10	127738642	127738642	G	A	exonic	FOXI2	.	nonsynonymous SNV	FOXI2:NM_207426:exon2:c.G634A:p.V212M,	.	.	401	1117	4	0	0	4	0.00178731	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09	T	0.132	B	0.019	B	0.517	N	1.000	N	0	N	-3.16	D	-0.401	T	0.512	D	0.108	0.965	8.939	0.894	0.379	0.977	7.035	0.173	0.103389910682	.	0.00139776	0.0012	0	0.0001	0	0	2.629e-05	0.0020	0.0071	0.0006533	101	154602	rs570152896	0.0003	0.0003	0.0002	0.0005	0.0049	0.0003	0.0003	0.0045	0.0043	3.015e-05	0	0	0	0	0.0012	4.252e-05	0.0003	0.0049	0.0002	0.0002	0.0002	0.0002	0.0048	0.0001	0.0001	0.0033	0.0028	0	0	0	0	0.0004	0	0.0034	2.94e-05	0.0005	0.0048	0.165	0.23271	T	0.128	0.34959	T	0.132	0.27209	B	0.019	0.18783	B	0.517207	0.11781	N	0.779391	1	0.08975	N	0	0.06538	N	-3.16	0.92996	D	0.28	0.04233	N	0.059	0.03069	-0.4014	0.71982	T	0.512	0.81681	D	10	0.0044291317	0.00091	T	0.10339	0.77739	D	0.173	0.43840	0.113	0.02240	0.517432700143	0.51384	0.329444498778826	0.32857	0.589772006947	0.54461	0.507018983364	0.39805	T	0.018795	0.15087	T	-0.427681	0.01531	T	-0.38602	0.35017	T	0.00771356120368294	0.00090	T	0.19768	0.02201	T	0.03831398	0.05080	0.06358977	0.12620	0.03831398	0.05079	0.06358977	0.12619	-6.282	0.48579	T	.	.	0.114	0.22825	B	.	.	1.119891	0.15057	11.55	0.91113343137166891	0.20366	0.03457	0.08605	N	AEFDBCI	0.055854	0.10278	N	-1.11702084955328	0.06339	0.2915832	-1.12790449729831	0.07171	0.3478104	0.790632259045621	0.24009	0.59774	0.34471	0	0.563428	0.19063	0	0.503968	0.08637	0	0.63947	0.58350	0	.	.	4.15	0.894	0.18375	-0.100000	0.10959	0.837000	0.22005	-0.936000	0.02120	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.3364:0.5513:0.1123	7.035	0.24166	788	0.46569	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.04762	2448.11	33	chr10	127738642	.	G	A	2448.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.48;DP=839;ExcessHet=0.1072;FS=3.572;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=13.99;ReadPosRankSum=-9.260e-01;SOR=0.972	GT:AD:DP:GQ:PL	0/1:46,52:98:99:1372,0,1067	19	0	2	0
chr10	132877923	132877923	-	TCCTTCTCTTTACTCCTCTCATTC	exonic	CFAP46	.	nonframeshift insertion	CFAP46:NM_001200049:exon30:c.4169_4170insGAATGAGAGGAGTAAAGAGAAGGA:p.K1389_D1390insENERSKEK,	.	.	435	1033	46	8	0	62	0.0291353	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0229	0.0011	0.0102	0.0020	0	0.0170	0.0617	0.0319	0.0008837	23	26028	rs752660068	0.0053	0.0051	0.0041	0.0065	0.0285	0.0052	0.0051	0.0265	0.0261	0.0011	0.0060	0.0189	0.0003	0.0019	0.0285	0.0035	0.0080	0.0275	0.0066	0.0068	0.0069	0.0062	0.0248	0.0062	0.0061	0.0211	0.0198	0.0014	0.0157	0.0080	0.0237	0.0004	0.0011	0.0171	0.0084	0.0086	0.0248	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	992.07	39	chr10	132877923	.	G	GTCCTTCTCTTTACTCCTCTCATTC	992.07	.	AC=2;AF=0.048;AN=42;BaseQRankSum=2.18;DP=786;ExcessHet=0.1072;FS=5.768;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=59.96;MQRankSum=0.00;QD=18.37;ReadPosRankSum=-9.760e-01;SOR=1.644	GT:AD:DP:GQ:PL	0/1:11,23:34:99:810,0,357	19	0	2	0
chr11	248783	248783	G	C	exonic	PSMD13	.	nonsynonymous SNV	PSMD13:NM_175932:exon6:c.G582C:p.E194D	.	.	428	1093	1	0	0	1	0.000457247	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.38	T	0.096	B	0.081	B	0.000	D	0.999	D	2.06	M	2.09	T	-0.811	T	0.220	T	0.66	2.995	15.99	2.34	0.772	2.662	5.202	0.065	0.0111761990492	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.095	0.43393	T	0.278	0.31527	T	0.003	0.15093	B	0.081	0.28987	B	0.000000	0.84330	D	0.045450	0.999294	0.46578	D	1.915	0.51223	L	2.07	0.20664	T	-2.18	0.51319	N	0.324	0.39153	-0.8114	0.54466	T	0.220	0.58279	T	10	0.32130337	0.49495	T	0.011176	0.28538	T	0.132	0.35948	0.357	0.35897	0.673476700173	0.67071	0.6418035505197147	0.64115	0.357799759759	0.37491	0.683988213539	0.64842	T	0.029969	0.26718	T	-0.0339512	0.46840	T	-0.286545	0.46130	T	0.710028171539307	0.41202	D	0.868313	0.57379	D	0.20797004	0.43018	0.13164109	0.31606	0.20797004	0.43018	0.13164109	0.31605	-6.617	0.51183	T	.	.	0.197	0.48008	B	.;.;.;.;.	.;.;.;.;.	2.384894	0.30617	18.49	0.99364640033719087	0.61155	0.96196	0.67976	D	AEFBI	0.816107	0.73792	D	0.170272352700551	0.49775	3.174203	0.188259302347225	0.49202	3.126371	0.299888360730187	0.19178	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.741806	0.99463	0	.	.	5.45	2.34	0.28071	2.736000	0.47058	1.757000	0.28522	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.2506:0.1504:0.599:0.0	5.202	0.14593	798	0.45050	Proteasome component (PCI) domain;.;Proteasome component (PCI) domain;Proteasome component (PCI) domain;Proteasome component (PCI) domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1331.98	33	chr11	248783	.	G	C	1331.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.199e+00;DP=819;ExcessHet=0.0000;FS=1.518;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.29;ReadPosRankSum=0.022;SOR=0.522	GT:AD:DP:GQ:PL	0/1:65,53:118:99:1346,0,1726	20	0	1	0
chr11	619769	619769	G	T	exonic	CDHR5	.	nonsynonymous SNV	CDHR5:NM_001171968:exon10:c.C1091A:p.A364E	.	.	426	1094	2	0	0	2	0.000913242	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.36	T	0.996	D	0.844	P	.	.	1.000	N	0.805	L	2.42	T	-1.043	T	0.045	T	0.502	1.572	11.21	1.82	0.216	-0.462	5.915	0.119	0.0113219138205	.	.	8.916e-06	0	0	0	0	1.618e-05	0	0	6.5e-06	1	154602	rs775122520	3.429e-06	6.156e-06	2.73e-06	4.135e-06	3.598e-06	1e-06	7.3e-07	8.4e-07	5.7e-07	0	0	0	0	1.99e-05	0	3.598e-06	0	0	6.569e-06	6.566e-06	1.284e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.332	0.15613	T	0.06	0.45961	T	0.899	0.59044	P	0.601	0.58006	P	.	.	.	.	0.999995	0.08975	N	1.995	0.54099	M	2.42	0.15376	T	-2.21	0.49684	N	0.215	0.24010	-1.0432	0.16354	T	0.045	0.19152	T	9	0.11462003	0.21570	T	0.011322	0.28825	T	0.119	0.33137	0.5	0.59147	0.0666544352282	0.05500	0.5270139910680519	0.52625	0.100311478549	0.11338	0.453848719597	0.32470	T	0.012518	0.10987	T	-0.171076	0.25072	T	-0.483516	0.24072	T	0.128290077821	0.15223	T	0.537446	0.18074	T	0.10373589	0.24519	0.20478086	0.44617	0.10373589	0.24519	0.20478086	0.44616	-11.939	0.88616	D	.	.	0.137	0.29968	B	.;.;.	.;.;.	0.327784	0.07020	3.579	0.917274378512002	0.21024	0.06785	0.12808	N	AEFBI	0.172902	0.29996	N	-0.748640849739603	0.14671	0.7327513	-0.908917418317319	0.11884	0.6081302	0.758103105956105	0.23467	0.421363	0.06395	0	0.550933	0.16991	0	0.536957	0.11973	0	0.613276	0.41899	0	.	.	3.76	1.82	0.24209	-0.661000	0.05410	-0.421000	0.09284	-3.305000	0.00097	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2649:0.0:0.7351:0.0	5.915	0.18287	929	0.16858	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1830.98	96	chr11	619769	.	G	T	1830.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.29;DP=1491;ExcessHet=0.0000;FS=3.030;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.08;ReadPosRankSum=0.519;SOR=0.965	GT:AD:DP:GQ:PL	0/1:72,68:140:99:1845,0,1766	20	0	1	0
chr11	1016991	1016991	T	0	exonic	MUC6	.	.	.	.	.	358	255	795	7	107	916	0.613343	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4524	62335.98	527	chr11	1016991	.	T	*,G	62335.98	.	AC=2,17;AF=0.048,0.405;AN=42;BaseQRankSum=3.01;DP=12391;ExcessHet=36.0830;FS=1.214;InbreedingCoeff=-0.8261;MLEAC=2,17;MLEAF=0.048,0.405;MQ=54.84;MQRankSum=-1.661e+01;QD=5.45;ReadPosRankSum=-4.007e+00;SOR=0.802	GT:AD:DP:GQ:PL	0/2:344,52,236:632:99:8505,7442,22036,0,12155,13609	2	0	2	0
chr11	1017464	1017464	T	0	exonic	MUC6	.	.	.	.	.	358	217	98	1	848	948	0.187266	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	62761.5	562	chr11	1017464	.	T	G,C,*	62761.5	.	AC=4,11,5;AF=0.100,0.275,0.125;AN=40;BaseQRankSum=3.67;DP=13460;ExcessHet=43.6797;FS=0.579;InbreedingCoeff=-0.9535;MLEAC=4,11,5;MLEAF=0.100,0.275,0.125;MQ=56.28;MQRankSum=-1.476e+01;QD=5.03;ReadPosRankSum=3.18;SOR=0.631	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:474,53,116,0:643:99:.:.:3307,2522,22612,0,16990,18691,4757,22308,19182,24387	0	0	4	1
chr11	1017466	1017466	T	0	exonic	MUC6	.	.	.	.	.	0	26	52	0	148	200	0.5	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	54938.57	566	chr11	1017466	.	T	C,A,*	54938.57	.	AC=13,3,5;AF=0.310,0.071,0.119;AN=42;BaseQRankSum=2.07;DP=13458;ExcessHet=54.0936;FS=0.611;InbreedingCoeff=-1.0000;MLEAC=13,3,5;MLEAF=0.310,0.071,0.119;MQ=56.42;MQRankSum=-1.354e+01;QD=4.16;ReadPosRankSum=3.19;SOR=0.632	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:497,104,56,0:657:99:.:.:2871,0,20556,2016,18518,22716,4367,20869,22884,25236	0	0	13	0
chr11	1017467	1017467	G	0	exonic	MUC6	.	.	.	.	.	336	797	216	0	173	389	0.119337	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3	2402.58	548	chr11	1017467	.	G	A,*	2402.58	.	AC=6,3;AF=0.200,0.100;AN=30;BaseQRankSum=2.71;DP=13253;ExcessHet=4.7172;FS=0.000;InbreedingCoeff=-0.4000;MLEAC=7,4;MLEAF=0.233,0.133;MQ=56.65;MQRankSum=-5.514e+00;QD=0.40;ReadPosRankSum=0.240;SOR=0.705	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:613,51,0:664:99:.:.:296,0,25586,2141,25740,27881	6	0	6	6
chr11	1017470	1017470	G	0	exonic	MUC6	.	.	.	.	.	0	29	117	0	80	197	0.668571	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	88683.23	557	chr11	1017470	.	G	T,*	88683.23	.	AC=15,5;AF=0.375,0.125;AN=40;BaseQRankSum=0.038;DP=13562;ExcessHet=43.6797;FS=0.000;InbreedingCoeff=-0.9535;MLEAC=15,5;MLEAF=0.375,0.125;MQ=56.60;MQRankSum=-1.458e+01;QD=7.02;ReadPosRankSum=3.68;SOR=0.666	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:511,157,0:668:99:0|1:1017440_C_T:5054,0,20984,6592,21457,28049:1017440	0	0	15	1
chr11	1017471	1017471	C	0	exonic	MUC6	.	.	.	.	.	335	839	180	1	167	349	0.0978495	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4118	9671.86	554	chr11	1017471	.	C	T,*	9671.86	.	AC=10,4;AF=0.294,0.118;AN=34;BaseQRankSum=1.94;DP=13468;ExcessHet=14.4320;FS=0.000;InbreedingCoeff=-0.6154;MLEAC=11,5;MLEAF=0.324,0.147;MQ=55.80;MQRankSum=-1.060e+01;QD=1.01;ReadPosRankSum=2.55;SOR=0.723	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:622,51,0:673:99:.:.:269,0,25964,2141,26118,28259	3	0	10	4
chr11	1017474	1017474	G	0	exonic	MUC6	.	.	.	.	.	342	447	564	2	167	735	0.388509	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4737	11964.24	565	chr11	1017474	.	G	A,*	11964.24	.	AC=13,5;AF=0.342,0.132;AN=38;BaseQRankSum=-3.530e-01;DP=13558;ExcessHet=30.0624;FS=0.861;InbreedingCoeff=-0.8261;MLEAC=14,5;MLEAF=0.368,0.132;MQ=56.37;MQRankSum=-7.879e+00;QD=1.05;ReadPosRankSum=1.66;SOR=0.569	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:628,50,0:678:99:0|1:1017458_A_G:209,0,26219,2099,26370,28469:1017458	1	0	13	2
chr11	1017483	1017483	T	0	exonic	MUC6	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	81106.23	565	chr11	1017483	.	T	G,*	81106.23	.	AC=15,5;AF=0.375,0.125;AN=40;BaseQRankSum=6.32;DP=13450;ExcessHet=43.6797;FS=0.000;InbreedingCoeff=-0.9535;MLEAC=15,5;MLEAF=0.375,0.125;MQ=56.60;MQRankSum=-1.502e+01;QD=6.50;ReadPosRankSum=3.20;SOR=0.722	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:541,139,0:680:99:0|1:1017440_C_T:4208,0,22287,5837,22706,28542:1017440	0	0	15	1
chr11	1017489	1017489	G	0	exonic	MUC6	.	.	.	.	.	344	749	262	0	167	429	0.148864	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.425	7292.49	575	chr11	1017489	.	G	A,*	7292.49	.	AC=12,5;AF=0.300,0.125;AN=40;BaseQRankSum=5.22;DP=13481;ExcessHet=25.1139;FS=0.874;InbreedingCoeff=-0.6876;MLEAC=12,5;MLEAF=0.300,0.125;MQ=56.46;MQRankSum=-8.490e+00;QD=0.71;ReadPosRankSum=0.688;SOR=0.548	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:655,47,0:702:2:0|1:1017458_A_G:2,0,27362,1974,27503,29477:1017458	3	0	12	1
chr11	1017498	1017498	C	0	exonic	MUC6	.	.	.	.	.	7	56	24	0	139	163	0.176471	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	21074.63	572	chr11	1017498	.	C	G,T,*	21074.63	.	AC=7,4,7;AF=0.194,0.111,0.194;AN=36;BaseQRankSum=-3.970e-01;DP=13422;ExcessHet=30.0624;FS=1.184;InbreedingCoeff=-0.8667;MLEAC=8,4,8;MLEAF=0.222,0.111,0.222;MQ=56.34;MQRankSum=-1.681e+01;QD=1.81;ReadPosRankSum=3.85;SOR=0.600	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:430,159,77,0:666:99:.:.:5117,0,16991,3249,14329,21427,6479,17579,21666,24917	0	0	7	3
chr11	1017514	1017514	A	0	exonic	MUC6	.	.	.	.	.	2	59	85	0	80	165	0.418719	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	104987.83	590	chr11	1017514	.	A	G,*	104987.83	.	AC=15,4;AF=0.395,0.105;AN=38;BaseQRankSum=-1.403e+00;DP=13650;ExcessHet=36.0830;FS=1.234;InbreedingCoeff=-0.9091;MLEAC=16,4;MLEAF=0.421,0.105;MQ=56.57;MQRankSum=-1.729e+01;QD=8.60;ReadPosRankSum=3.73;SOR=0.593	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:472,261,0:733:99:.:.:9266,0,18157,10685,18943,29628	0	0	15	2
chr11	1017529	1017529	G	0	exonic	MUC6	.	.	.	.	.	367	747	232	0	176	408	0.134415	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3438	10324.21	612	chr11	1017529	.	G	A,*	10324.21	.	AC=7,4;AF=0.219,0.125;AN=32;BaseQRankSum=-1.543e+00;DP=14485;ExcessHet=7.7275;FS=0.000;InbreedingCoeff=-0.4712;MLEAC=8,5;MLEAF=0.250,0.156;MQ=56.16;MQRankSum=-5.112e+00;QD=1.18;ReadPosRankSum=4.45;SOR=0.628	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:588,169,0:757:99:.:.:4681,0,22981,6451,23488,29939	5	0	7	5
chr11	1017980	1017980	G	C	exonic	MUC6	.	nonsynonymous SNV	MUC6:NM_005961:exon31:c.C4821G:p.H1607Q,	.	.	377	1113	31	0	1	32	0.013735	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3	T	0.963	D	0.828	P	.	.	1.000	N	1.59	L	2.29	T	-1.044	T	0.055	T	0.046	-0.833	0.590	-0.544	-0.305	-1.592	3.857	0.018	0.00294131736266	.	.	.	.	.	.	.	.	.	.	.	.	.	rs77536353	0	1.71e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.0002	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.071	0.35165	T	0.546	0.09555	T	0.963	0.55692	D	0.828	0.59497	P	.	.	.	.	1	0.08975	N	2.125	0.59049	M	2.29	0.17113	T	-0.52	0.16187	N	0.064	0.03613	-1.0438	0.16177	T	0.055	0.23072	T	9	0.11826384	0.22355	T	0.002941	0.06250	T	0.018	0.03083	0.176	0.08257	0.338834610459	0.33488	0.12495968873936728	0.12421	0.089077498397	0.10066	0.168520405889	0.00027	T	0.028716	0.20737	T	-0.37366	0.03413	T	-0.774513	0.02623	T	0.0780681323622793	0.09738	T	.	.	.	0.03696404	0.04647	0.047161993	0.06733	0.03696404	0.04647	0.047161993	0.06733	-7.978	0.60920	D	.	.	0.096	0.15475	B	.	.	0.227088	0.06087	2.531	0.53594529813230063	0.04970	0.02502	0.06989	N	AEFDGBCI	0.045586	0.07473	N	-0.61535458523796	0.18482	0.9599189	-0.889736591911147	0.12336	0.6339777	0.98217000833971	0.30362	0.660377	0.49826	0	0.694456	0.67091	0	0.517114	0.09559	2	0.264475	0.05362	3	.	.	2.39	-0.544	0.11254	-0.991000	0.03839	-20.000000	0.00162	-0.293000	0.06271	0.000000	0.06391	0.000000	0.08366	0.005000	0.06747	0.2309:0.2258:0.5434:0.0	3.857	0.08487	825	0.40060	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	750.74	261	chr11	1017980	.	G	C	750.74	.	AC=3;AF=0.071;AN=42;BaseQRankSum=3.83;DP=6631;ExcessHet=0.3300;FS=12.893;InbreedingCoeff=-0.0783;MLEAC=3;MLEAF=0.071;MQ=53.95;MQRankSum=-5.417e+00;QD=0.74;ReadPosRankSum=-1.618e+00;SOR=2.433	GT:AD:DP:GQ:PL	0/1:419,31:450:20:20,0,17431	18	0	3	0
chr11	1018226	1018226	T	0	exonic	MUC6	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.381	11874.25	178	chr11	1018226	.	T	G,*	11874.25	.	AC=15,1;AF=0.357,0.024;AN=42;BaseQRankSum=4.07;DP=3953;ExcessHet=20.9642;FS=12.534;InbreedingCoeff=-0.6154;MLEAC=15,1;MLEAF=0.357,0.024;MQ=57.35;MQRankSum=-8.912e+00;QD=3.83;ReadPosRankSum=0.169;SOR=1.148	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:160,29,0:189:99:.:.:736,0,6631,1218,6718,7936	5	0	15	0
chr11	1018228	1018228	G	0	exonic	MUC6	.	.	.	.	.	413	954	154	0	1	155	0.0746848	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.381	1624.13	178	chr11	1018228	.	G	*,A	1624.13	.	AC=5,11;AF=0.119,0.262;AN=42;BaseQRankSum=2.18;DP=4019;ExcessHet=20.9642;FS=26.259;InbreedingCoeff=-0.6149;MLEAC=5,11;MLEAF=0.119,0.262;MQ=57.37;MQRankSum=-8.668e+00;QD=0.53;ReadPosRankSum=-1.860e+00;SOR=3.039	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:176,0,13:189:16:.:.:16,549,7959,0,7393,7351	5	0	5	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.64	T	0.0	B	0.0	B	.	.	1.000	N	0	N	2.32	T	-1.013	T	0.014	T	0.033	-1.839	0.009	-4.82	-3.424	-4.810	0.642	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	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.3571	5589.96	253	chr11	1018290	.	G	A,C	5589.96	.	AC=10,5;AF=0.238,0.119;AN=42;BaseQRankSum=4.42;DP=5021;ExcessHet=17.4423;FS=18.255;InbreedingCoeff=-0.5555;MLEAC=10,5;MLEAF=0.238,0.119;MQ=55.33;MQRankSum=-6.736e+00;QD=1.48;ReadPosRankSum=0.802;SOR=2.085	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:225,17,15:257:37:.:.:37,0,9397,84,8818,9487	6	0	10	0
chr11	1095948	1095948	C	0	exonic	MUC2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.9524	143278.47	224	chr11	1095948	.	C	G,*	143278.47	.	AC=40,1;AF=0.952,0.024;AN=42;BaseQRankSum=1.49;DP=4120;ExcessHet=0.0000;FS=1.823;InbreedingCoeff=-0.0244;MLEAC=40,1;MLEAF=0.952,0.024;MQ=54.83;MQRankSum=1.39;QD=32.74;ReadPosRankSum=1.46;SOR=0.758	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:6,190,0:196:99:1|1:1095948_C_G:8158,403,0,8176,571,8343:1095948	0	19	1	0
chr11	1095999	1095999	A	0	exonic	MUC2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.9524	158783.66	219	chr11	1095999	.	A	T,C,*	158783.66	.	AC=40,1,1;AF=0.952,0.024,0.024;AN=42;BaseQRankSum=0.638;DP=4365;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=NaN;MLEAC=40,1,1;MLEAF=0.952,0.024,0.024;MQ=58.57;MQRankSum=11.29;QD=24.86;ReadPosRankSum=-1.695e+00;SOR=0.380	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,226,0,0:226:99:1|1:1095948_C_G:9298,678,0,9298,678,9298,9298,678,9298,9298:1095948	0	19	0	0
chr11	1096086	1096086	G	0	exonic	MUC2	.	.	.	.	.	566	673	252	7	24	290	0.165012	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1905	16587.35	478	chr11	1096086	.	G	C,*	16587.35	.	AC=7,4;AF=0.167,0.095;AN=42;BaseQRankSum=-3.100e-01;DP=7824;ExcessHet=0.0338;FS=4.192;InbreedingCoeff=0.3842;MLEAC=7,4;MLEAF=0.167,0.095;MQ=56.40;MQRankSum=3.42;QD=7.73;ReadPosRankSum=-7.470e-01;SOR=0.804	GT:AD:DP:GQ:PGT:PID:PL:PS	1|2:0,72,44:116:99:0|1:1096086_G_C:4715,1503,1200,3027,0,6845:1096086	13	0	4	0
chr11	1096111	1096111	A	0	exonic	MUC2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05263	79.85	480	chr11	1096111	.	A	*,C	79.85	.	AC=2,1;AF=0.053,0.026;AN=38;BaseQRankSum=0.357;DP=8504;ExcessHet=0.0000;FS=3.212;InbreedingCoeff=0.4474;MLEAC=2,1;MLEAF=0.053,0.026;MQ=54.72;MQRankSum=-8.541e+00;QD=0.39;ReadPosRankSum=2.52;SOR=0.491	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:88,44,0:132:99:0|1:1096111_A_*:1142,0,7551,1421,3603,5464:1096111	17	0	1	2
chr11	1096114	1096114	A	0	exonic	MUC2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05263	72.85	463	chr11	1096114	.	A	*,T	72.85	.	AC=2,1;AF=0.053,0.026;AN=38;BaseQRankSum=0.462;DP=8511;ExcessHet=0.0000;FS=4.009;InbreedingCoeff=0.4474;MLEAC=2,1;MLEAF=0.053,0.026;MQ=54.60;MQRankSum=-8.585e+00;QD=0.36;ReadPosRankSum=2.34;SOR=0.476	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:89,44,0:133:99:0|1:1096111_A_*:1137,0,7610,1417,3644,5480:1096111	17	0	1	2
chr11	1096114	1096114	A	T	exonic	MUC2	.	unknown	UNKNOWN,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.481e-05	0.0001	1.131e-05	1.845e-05	3.372e-05	9.26e-06	7.64e-06	1.004e-05	8.12e-06	3.372e-05	0	4.782e-05	0	0	0	1.695e-05	0	0	6.947e-05	0.0002	5.422e-05	8.551e-05	0.0003	3.706e-05	2.854e-05	9.37e-05	5.583e-05	2.502e-05	0	0.0003	0	0	0	0	6.238e-05	0.0005	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.05263	72.85	463	chr11	1096114	.	A	*,T	72.85	.	AC=2,1;AF=0.053,0.026;AN=38;BaseQRankSum=0.462;DP=8511;ExcessHet=0.0000;FS=4.009;InbreedingCoeff=0.4474;MLEAC=2,1;MLEAF=0.053,0.026;MQ=54.60;MQRankSum=-8.585e+00;QD=0.36;ReadPosRankSum=2.34;SOR=0.476	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:89,44,0:133:99:0|1:1096111_A_*:1137,0,7610,1417,3644,5480:1096111	17	0	1	2
chr11	1096123	1096123	C	0	exonic	MUC2	.	.	.	.	.	478	865	169	4	6	183	0.0928159	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.15	13067.43	463	chr11	1096123	.	C	*,T	13067.43	.	AC=2,6;AF=0.050,0.150;AN=40;BaseQRankSum=0.051;DP=8687;ExcessHet=0.0303;FS=1.783;InbreedingCoeff=0.3363;MLEAC=2,6;MLEAF=0.050,0.150;MQ=56.41;MQRankSum=2.66;QD=7.92;ReadPosRankSum=0.268;SOR=0.782	GT:AD:DP:GQ:PGT:PID:PL:PS	1|2:3,44,101:148:99:0|1:1096086_G_C:5000,3658,8359,1371,0,1107:1096086	14	0	0	1
chr11	1096140	1096140	C	0	exonic	MUC2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05263	620.81	463	chr11	1096140	.	C	*,CAT	620.81	.	AC=2,1;AF=0.053,0.026;AN=38;BaseQRankSum=1.11;DP=8549;ExcessHet=0.0000;FS=0.959;InbreedingCoeff=0.4474;MLEAC=2,1;MLEAF=0.053,0.026;MQ=55.11;MQRankSum=1.21;QD=2.33;ReadPosRankSum=1.58;SOR=0.620	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:105,44,25:174:99:0|1:1096111_A_*:1033,0,8623,768,3681,5195:1096111	17	0	1	2
chr11	1096140	1096140	-	AT	exonic	MUC2	.	unknown	UNKNOWN,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0.0007	0.0002	0.0002	0.0002	0.0002	0.0001	0.0002	0.0002	6.707e-05	3.157e-05	0.0002	0	0.0004	0.0002	0.0002	0.0002	1.361e-05	0.0002	0.0006	0.0001	0.0002	0.0004	0.0001	9.498e-05	0.0002	0.0001	4.865e-05	0	0.0004	0	0	0.0002	0	0.0002	0.0005	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05263	620.81	463	chr11	1096140	.	C	*,CAT	620.81	.	AC=2,1;AF=0.053,0.026;AN=38;BaseQRankSum=1.11;DP=8549;ExcessHet=0.0000;FS=0.959;InbreedingCoeff=0.4474;MLEAC=2,1;MLEAF=0.053,0.026;MQ=55.11;MQRankSum=1.21;QD=2.33;ReadPosRankSum=1.58;SOR=0.620	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:105,44,25:174:99:0|1:1096111_A_*:1033,0,8623,768,3681,5195:1096111	17	0	1	2
chr11	1096141	1096168	CCTGACACCCATCACCACCACCACTACG	0	exonic	MUC2	.	.	.	.	.	463	999	52	0	8	60	0.0253659	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.175	11410.69	566	chr11	1096141	.	CCTGACACCCATCACCACCACCACTACG	C,*,CGACACCCATCACCACCACCACTACG	11410.69	.	AC=5,2,1;AF=0.125,0.050,0.025;AN=40;BaseQRankSum=0.837;DP=9083;ExcessHet=0.5418;FS=0.000;InbreedingCoeff=0.0413;MLEAC=5,2,1;MLEAF=0.125,0.050,0.025;MQ=56.99;MQRankSum=-2.825e+00;QD=4.13;ReadPosRankSum=0.431;SOR=0.703	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:106,0,44,28:178:99:0|1:1096111_A_*:1023,1715,8231,0,6775,8677,693,5447,3614,5153:1096111	13	0	5	1
chr11	1096142	1096143	CT	-	exonic	MUC2	.	unknown	UNKNOWN,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0.0007	0.0002	0.0002	0.0002	0.0002	0.0002	0.0002	0.0002	0.0001	3.152e-05	0.0001	0	0.0005	0.0002	0.0002	0.0003	2.72e-05	0.0002	0.0007	0.0002	0.0002	0.0004	0.0001	0.0001	0.0002	0.0001	7.632e-05	0	0.0004	0	0.0002	0.0002	0	0.0002	0.0005	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.175	11410.69	566	chr11	1096141	.	CCTGACACCCATCACCACCACCACTACG	C,*,CGACACCCATCACCACCACCACTACG	11410.69	.	AC=5,2,1;AF=0.125,0.050,0.025;AN=40;BaseQRankSum=0.837;DP=9083;ExcessHet=0.5418;FS=0.000;InbreedingCoeff=0.0413;MLEAC=5,2,1;MLEAF=0.125,0.050,0.025;MQ=56.99;MQRankSum=-2.825e+00;QD=4.13;ReadPosRankSum=0.431;SOR=0.703	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:106,0,44,28:178:99:0|1:1096111_A_*:1023,1715,8231,0,6775,8677,693,5447,3614,5153:1096111	13	0	5	1
chr11	1096143	1096212	TGACACCCATCACCACCACCACTACGGTGACCCCAACCCCAACACCCACCGGCACACAGACCCCAACCAC	0	exonic	MUC2	.	.	.	.	.	508	767	11	0	236	247	0.00711974	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4762	37726.02	456	chr11	1096143	.	TGACACCCATCACCACCACCACTACGGTGACCCCAACCCCAACACCCACCGGCACACAGACCCCAACCAC	T,*	37726.02	.	AC=12,8;AF=0.286,0.190;AN=42;BaseQRankSum=2.69;DP=11682;ExcessHet=26.8223;FS=0.000;InbreedingCoeff=-0.7182;MLEAC=12,8;MLEAF=0.286,0.190;MQ=57.74;MQRankSum=-5.520e+00;QD=5.63;ReadPosRankSum=-1.130e+00;SOR=0.704	GT:AD:DP:GQ:PL	0/2:108,0,139:247:99:5304,4561,13974,0,4127,4803	2	0	12	0
chr11	1096155	1096155	C	0	exonic	MUC2	.	.	.	.	.	456	828	3	1	234	239	0.00301023	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.475	2478.81	456	chr11	1096155	.	C	*,G	2478.81	.	AC=17,2;AF=0.425,0.050;AN=40;BaseQRankSum=1.10;DP=11237;ExcessHet=40.9761;FS=0.000;InbreedingCoeff=-0.8455;MLEAC=18,2;MLEAF=0.450,0.050;MQ=56.37;MQRankSum=-1.489e+00;QD=0.42;ReadPosRankSum=-3.800e+00;SOR=0.707	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:133,1,51:185:99:0|1:1096111_A_*:1929,1472,9571,0,5440,6550:1096111	1	0	17	1
chr11	1096155	1096155	C	G	exonic	MUC2	.	unknown	UNKNOWN,	.	.	456	828	3	1	234	239	0.00301023	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1362776823	0.0019	0.0052	0.0019	0.0019	0.0094	0.0018	0.0018	0.0083	0.0079	0.0094	0.0017	0.0027	6.019e-05	0.0067	0.0025	0.0016	0.0033	0.0002	0.0022	0.0038	0.0019	0.0025	0.0061	0.0020	0.0019	0.0054	0.0051	0.0061	0	0.0010	0.0004	0	0.0006	0	0.0006	0.0032	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.475	2478.81	456	chr11	1096155	.	C	*,G	2478.81	.	AC=17,2;AF=0.425,0.050;AN=40;BaseQRankSum=1.10;DP=11237;ExcessHet=40.9761;FS=0.000;InbreedingCoeff=-0.8455;MLEAC=18,2;MLEAF=0.450,0.050;MQ=56.37;MQRankSum=-1.489e+00;QD=0.42;ReadPosRankSum=-3.800e+00;SOR=0.707	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:133,1,51:185:99:0|1:1096111_A_*:1929,1472,9571,0,5440,6550:1096111	1	0	17	1
chr11	1096180	1096180	C	0	exonic	MUC2	.	.	.	.	.	532	749	62	4	175	245	0.0446429	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5333	9964.82	473	chr11	1096180	.	C	A,*	9964.82	.	AC=3,13;AF=0.100,0.433;AN=30;BaseQRankSum=1.20;DP=9719;ExcessHet=11.8260;FS=0.000;InbreedingCoeff=-0.6114;MLEAC=4,16;MLEAF=0.133,0.533;MQ=55.18;MQRankSum=-5.213e+00;QD=2.11;ReadPosRankSum=-3.960e-01;SOR=0.683	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:107,139,1:247:99:.:.:5340,0,3960,4295,3851,10072	0	1	1	6
chr11	1096181	1096181	C	0	exonic	MUC2	.	.	.	.	.	514	824	9	0	175	184	0.0054315	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4643	3441.94	473	chr11	1096181	.	C	*,G	3441.94	.	AC=11,2;AF=0.393,0.071;AN=28;BaseQRankSum=0.590;DP=9622;ExcessHet=13.8672;FS=0.000;InbreedingCoeff=-0.5837;MLEAC=14,3;MLEAF=0.500,0.107;MQ=56.12;MQRankSum=-2.654e+00;QD=0.82;ReadPosRankSum=0.675;SOR=0.697	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:171,1,76:248:99:0|1:1096111_A_*:2891,1993,9978,0,6883,7421:1096111	1	0	11	7
chr11	1096181	1096181	C	G	exonic	MUC2	.	unknown	UNKNOWN,	.	.	514	824	9	0	175	184	0.0054315	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0024	0.0051	0.0024	0.0025	0.0031	0.0023	0.0023	0.0022	0.0022	0.0004	0.0017	0.0035	0	0.0156	0.0031	0.0023	0.0036	0.0004	0.0006	0.0013	0.0007	0.0006	0.0010	0.0005	0.0005	0.0008	0.0007	5.841e-05	0	0.0007	0.0008	0	0.0011	0	0.0010	0.0012	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.4643	3441.94	473	chr11	1096181	.	C	*,G	3441.94	.	AC=11,2;AF=0.393,0.071;AN=28;BaseQRankSum=0.590;DP=9622;ExcessHet=13.8672;FS=0.000;InbreedingCoeff=-0.5837;MLEAC=14,3;MLEAF=0.500,0.107;MQ=56.12;MQRankSum=-2.654e+00;QD=0.82;ReadPosRankSum=0.675;SOR=0.697	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:171,1,76:248:99:0|1:1096111_A_*:2891,1993,9978,0,6883,7421:1096111	1	0	11	7
chr11	1096211	1096211	A	0	exonic	MUC2	.	.	.	.	.	606	732	15	0	169	184	0.010142	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	3281.3	481	chr11	1096211	.	A	*,C	3281.3	.	AC=11,2;AF=0.423,0.077;AN=26;BaseQRankSum=0.723;DP=9206;ExcessHet=15.1749;FS=0.000;InbreedingCoeff=-0.6204;MLEAC=15,3;MLEAF=0.577,0.115;MQ=57.49;MQRankSum=-5.247e+00;QD=0.68;ReadPosRankSum=2.33;SOR=0.677	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:204,1,76:281:99:0|1:1096111_A_*:2831,1945,10138,0,8225,8047:1096111	0	0	11	8
chr11	1096212	1096212	C	0	exonic	MUC2	.	.	.	.	.	603	738	12	0	169	181	0.00806452	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	3283.99	481	chr11	1096212	.	C	*,T	3283.99	.	AC=8,2;AF=0.400,0.100;AN=20;BaseQRankSum=1.36;DP=8921;ExcessHet=7.5380;FS=0.539;InbreedingCoeff=-0.5140;MLEAC=12,3;MLEAF=0.600,0.150;MQ=56.42;MQRankSum=-3.744e+00;QD=0.91;ReadPosRankSum=4.45;SOR=0.638	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:203,1,76:280:99:0|1:1096111_A_*:2833,1944,10095,0,8183,8006:1096111	0	0	8	11
chr11	1096212	1096212	C	T	exonic	MUC2	.	unknown	UNKNOWN,	.	.	603	738	12	0	169	181	0.00806452	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1400696229	0.0042	0.0094	0.0040	0.0044	0.0105	0.0040	0.0039	0.0063	0.0057	0.0078	0.0031	0.0092	0.0039	0.0418	0.0105	0.0037	0.0060	0.0014	0.0038	0.0063	0.0033	0.0042	0.0040	0.0032	0.0030	0.0032	0.0029	0.0039	0	0.0038	0.0018	0.0024	0.0035	0	0.0040	0.0049	0.0012	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.5	3283.99	481	chr11	1096212	.	C	*,T	3283.99	.	AC=8,2;AF=0.400,0.100;AN=20;BaseQRankSum=1.36;DP=8921;ExcessHet=7.5380;FS=0.539;InbreedingCoeff=-0.5140;MLEAC=12,3;MLEAF=0.600,0.150;MQ=56.42;MQRankSum=-3.744e+00;QD=0.91;ReadPosRankSum=4.45;SOR=0.638	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:203,1,76:280:99:0|1:1096111_A_*:2833,1944,10095,0,8183,8006:1096111	0	0	8	11
chr11	1096650	1096650	C	0	exonic	MUC2	.	.	.	.	.	8	102	82	32	2	148	0.417143	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	15758.34	106	chr11	1096650	.	C	T,*	15758.34	.	AC=9,1;AF=0.225,0.025;AN=40;BaseQRankSum=3.24;DP=2340;ExcessHet=0.0097;FS=1.183;InbreedingCoeff=0.4232;MLEAC=9,1;MLEAF=0.225,0.025;MQ=53.80;MQRankSum=-1.435e+00;QD=20.23;ReadPosRankSum=0.795;SOR=0.599	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,104,0:104:99:1|1:1096650_C_T:4296,313,0,4296,313,4296:1096650	13	3	3	1
chr11	1096664	1096664	T	0	exonic	MUC2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.9524	61688.6	93	chr11	1096664	.	T	C,*	61688.6	.	AC=40,2;AF=0.952,0.048;AN=42;DP=2147;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=NaN;MLEAC=40,2;MLEAF=0.952,0.048;MQ=53.76;QD=30.39;SOR=1.458	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,80,0:80:99:1|1:1096650_C_T:3506,241,0,3506,241,3506:1096650	0	19	0	0
chr11	1096735	1096735	G	0	exonic	MUC2	.	.	.	.	.	77	124	16	7	2	32	0.107914	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4444	1024.05	19	chr11	1096735	.	G	*,A	1024.05	.	AC=1,7;AF=0.056,0.389;AN=18;BaseQRankSum=2.66;DP=578;ExcessHet=6.7594;FS=42.548;InbreedingCoeff=-0.2647;MLEAC=2,11;MLEAF=0.111,0.611;MQ=49.97;MQRankSum=-7.400e-01;QD=5.25;ReadPosRankSum=0.358;SOR=1.548	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:13,0,4:17:99:0|1:1096650_C_T:129,168,470,0,302,290:1096650	1	0	1	12
chr11	1097377	1097377	T	0	exonic	MUC2	.	.	.	.	.	706	772	41	0	3	44	0.0258675	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3182	1225.14	90	chr11	1097377	.	T	C,*	1225.14	.	AC=6,1;AF=0.273,0.045;AN=22;BaseQRankSum=2.86;DP=2345;ExcessHet=2.5830;FS=30.158;InbreedingCoeff=-0.4001;MLEAC=9,2;MLEAF=0.409,0.091;MQ=29.98;MQRankSum=-1.032e+00;QD=2.03;ReadPosRankSum=-2.380e-01;SOR=2.410	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:54,9,0:63:58:.:.:58,0,1378,220,1405,1625	4	0	6	10
chr11	1097397	1097397	C	0	exonic	MUC2	.	.	.	.	.	683	731	102	3	3	111	0.0687898	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1111	2445.2	75	chr11	1097397	.	C	T,*	2445.2	.	AC=3,1;AF=0.083,0.028;AN=36;BaseQRankSum=-2.256e+00;DP=2418;ExcessHet=0.6776;FS=16.908;InbreedingCoeff=-0.1507;MLEAC=3,1;MLEAF=0.083,0.028;MQ=32.67;MQRankSum=2.33;QD=6.75;ReadPosRankSum=-1.210e-01;SOR=0.563	GT:AD:DP:GQ:PL	0/1:54,49,0:103:99:923,0,1874,1085,2018,3103	14	0	3	3
chr11	1097404	1097404	C	T	exonic	MUC2	.	unknown	UNKNOWN,	.	.	725	773	23	0	1	24	0.014659	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0220	0.0089	0	0.0172	0.0135	0.0152	0.0312	0.0510	0.0002458	38	154602	rs1263995397	0.0102	0.0083	0.0109	0.0095	0.0188	0.0098	0.0096	0.0123	0.0121	0.0056	0.0066	0.0112	0.0034	0.0078	0.0188	0.0129	0.0119	0.0030	0.0079	0.0098	0.0081	0.0076	0.0102	0.0071	0.0068	0.0089	0.0084	0.0045	0.0112	0.0069	0.0055	0.0088	0.0089	0	0.0102	0.0089	0.0087	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.1875	3071.46	75	chr11	1097404	.	C	T	3071.46	.	AC=3;AF=0.188;AN=16;BaseQRankSum=-2.806e+00;DP=3012;ExcessHet=0.3300;FS=2.589;InbreedingCoeff=-0.2923;MLEAC=5;MLEAF=0.313;MQ=33.16;MQRankSum=-1.158e+00;QD=7.80;ReadPosRankSum=1.91;SOR=0.787	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:73,42:115:99:0|1:1097404_C_T:1541,0,2768:1097404	5	0	3	13
chr11	1097434	1097434	C	T	exonic	MUC2	.	unknown	UNKNOWN,	.	.	709	787	15	0	11	26	0.0094399	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0004	0.0049	0	0	0	0	0	0	4.53e-05	7	154602	rs1324794777	0.0039	0.0035	0.0042	0.0037	0.0047	0.0037	0.0037	0.0044	0.0043	0.0047	0.0026	0.0041	0.0019	0.0034	0.0031	0.0047	0.0045	0.0012	0.0045	0.0056	0.0046	0.0044	0.0055	0.0040	0.0039	0.0047	0.0044	0.0030	0.0041	0.0046	0.0015	0.0055	0.0046	0	0.0055	0.0088	0.0040	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.25	3353.75	75	chr11	1097434	.	C	T	3353.75	.	AC=3;AF=0.250;AN=12;BaseQRankSum=-4.019e+00;DP=3924;ExcessHet=0.3300;FS=0.539;InbreedingCoeff=-0.3333;MLEAC=6;MLEAF=0.500;MQ=36.00;MQRankSum=-2.053e+00;QD=7.54;ReadPosRankSum=1.89;SOR=0.696	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:78,53:131:99:0|1:1097404_C_T:1999,0,2633:1097404	3	0	3	15
chr11	1097440	1097440	C	0	exonic	MUC2	.	.	.	.	.	667	835	9	0	11	20	0.00536033	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05263	1991.87	75	chr11	1097440	.	C	*,G	1991.87	.	AC=1,1;AF=0.026,0.026;AN=38;BaseQRankSum=-3.254e+00;DP=4019;ExcessHet=0.1072;FS=3.849;InbreedingCoeff=-0.0825;MLEAC=1,1;MLEAF=0.026,0.026;MQ=35.60;MQRankSum=-1.169e+00;QD=6.51;ReadPosRankSum=3.12;SOR=0.506	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:74,0,53:127:99:0|1:1097404_C_T:2005,2212,4957,0,2745,2586:1097404	17	0	1	2
chr11	1097440	1097440	C	G	exonic	MUC2	.	unknown	UNKNOWN,	.	.	667	835	9	0	11	20	0.00536033	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1231771272	0.0010	0.0012	0.0010	0.0009	0.0012	0.0009	0.0009	0.0011	0.0011	4.237e-05	0.0005	0.0010	0	0.0012	0.0003	0.0012	0.0013	0.0002	0.0008	0.0012	0.0007	0.0009	0.0012	0.0006	0.0006	0.0009	0.0008	0.0003	0	0.0009	0.0004	0	0.0012	0	0.0012	0.0015	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.05263	1991.87	75	chr11	1097440	.	C	*,G	1991.87	.	AC=1,1;AF=0.026,0.026;AN=38;BaseQRankSum=-3.254e+00;DP=4019;ExcessHet=0.1072;FS=3.849;InbreedingCoeff=-0.0825;MLEAC=1,1;MLEAF=0.026,0.026;MQ=35.60;MQRankSum=-1.169e+00;QD=6.51;ReadPosRankSum=3.12;SOR=0.506	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:74,0,53:127:99:0|1:1097404_C_T:2005,2212,4957,0,2745,2586:1097404	17	0	1	2
chr11	1097560	1097560	A	0	exonic	MUC2	.	.	.	.	.	36	182	1	1	6	9	0.00817439	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1562	502.64	172	chr11	1097560	.	A	C,*	502.64	.	AC=3,2;AF=0.094,0.063;AN=32;BaseQRankSum=2.96;DP=3898;ExcessHet=0.0454;FS=0.723;InbreedingCoeff=0.1765;MLEAC=3,2;MLEAF=0.094,0.063;MQ=33.04;MQRankSum=0.067;QD=1.50;ReadPosRankSum=-2.820e-01;SOR=0.584	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:1,9,0:10:20:.:.:315,20,0,318,27,325	12	1	1	5
chr11	1098795	1098795	G	0	exonic	MUC2	.	.	.	.	.	679	640	201	0	2	203	0.135719	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2222	9572.22	147	chr11	1098795	.	G	A,*	9572.22	.	AC=7,1;AF=0.194,0.028;AN=36;BaseQRankSum=2.22;DP=3836;ExcessHet=3.7745;FS=1.215;InbreedingCoeff=-0.2250;MLEAC=8,1;MLEAF=0.222,0.028;MQ=35.69;MQRankSum=-3.090e-01;QD=4.86;ReadPosRankSum=0.919;SOR=0.598	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:234,113,0:347:99:.:.:2293,0,6139,2912,6475,9386	10	0	7	3
chr11	1098812	1098812	C	0	exonic	MUC2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	1962.92	133	chr11	1098812	.	C	A,*	1962.92	.	AC=9,3;AF=0.250,0.083;AN=36;BaseQRankSum=2.08;DP=3561;ExcessHet=9.6308;FS=3.400;InbreedingCoeff=-0.4724;MLEAC=10,3;MLEAF=0.278,0.083;MQ=36.45;MQRankSum=0.209;QD=1.00;ReadPosRankSum=-2.579e+00;SOR=1.127	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:288,23,0:311:8:0|1:1098812_C_A:8,0,11525,862,11594,12456:1098812	6	0	9	3
chr11	1098813	1098813	C	0	exonic	MUC2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	1884.38	133	chr11	1098813	.	C	*,T	1884.38	.	AC=3,9;AF=0.083,0.250;AN=36;BaseQRankSum=2.50;DP=3551;ExcessHet=9.6308;FS=3.047;InbreedingCoeff=-0.4710;MLEAC=3,10;MLEAF=0.083,0.278;MQ=36.42;MQRankSum=-1.580e-01;QD=0.91;ReadPosRankSum=-2.579e+00;SOR=0.949	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:287,0,23:310:7:0|1:1098812_C_A:7,862,12481,0,11619,11550:1098812	6	0	3	3
chr11	1099366	1099435	TGACGCCCATCACCACCACCACTACGGTGACCCCAACCCCAACACCCACCGGCACACAGACCCCAACCCC	0	exonic	MUC2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4615	22453.21	278	chr11	1099366	.	TGACGCCCATCACCACCACCACTACGGTGACCCCAACCCCAACACCCACCGGCACACAGACCCCAACCCC	CGACGCCCATCACCACCACCACTACGGTGACCCCAACCCCAACACCCACCGGCACACAGACCCCAACCCC,T,*	22453.21	.	AC=8,3,2;AF=0.308,0.115,0.077;AN=26;BaseQRankSum=1.50;DP=6647;ExcessHet=1.2656;FS=0.000;InbreedingCoeff=0.0574;MLEAC=11,4,3;MLEAF=0.423,0.154,0.115;MQ=53.25;MQRankSum=-1.319e+00;QD=10.10;ReadPosRankSum=-2.293e+00;SOR=0.641	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,177,0,0:177:99:1|1:1099364_A_C:7066,532,0,7066,532,7066,7066,532,7066,7066:1099364	3	2	3	8
chr11	1099370	1099370	G	0	exonic	MUC2	.	.	.	.	.	923	13	249	324	13	910	0.971831	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.8571	99733.73	157	chr11	1099370	.	G	A,*	99733.73	.	AC=36,6;AF=0.857,0.143;AN=42;BaseQRankSum=2.61;DP=6688;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=NaN;MLEAC=36,6;MLEAF=0.857,0.143;MQ=54.00;MQRankSum=1.34;QD=23.82;ReadPosRankSum=0.267;SOR=0.336	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,176,0:176:99:1|1:1099364_A_C:7034,529,0,7034,529,7034:1099364	0	15	0	0
chr11	1630194	1630223	CTGTGGCTCCTGTGGGGGGTCCAAGGGGGG	-	exonic	KRTAP5-5	.	nonframeshift deletion	KRTAP5-5:NM_001001480:exon1:c.354_383del:p.C142_Y218delinsYGCSQSSCCKPCCCSSGCGSSCCQSSCCKPYCCQSSCCKPYCCQSSCCKPCSCFSGCGSSCCQSSCYKPCCCQSSCCVPVCCQCKI*,	.	.	452	1018	30	9	13	61	0.0230326	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	2243.01	34	chr11	1630163	.	CCTGTGGCTCCTGTGGGGGGTCCAAGGGGGGCTGTGGCTCCTGTGGGGGGTCCAAGGGGGG	CCTGTGGCTCCTGTGGGGGGTCCAAGGGGGG,C	2243.01	.	AC=6,2;AF=0.150,0.050;AN=40;BaseQRankSum=0.830;DP=1501;ExcessHet=0.0002;FS=4.867;InbreedingCoeff=0.6313;MLEAC=6,2;MLEAF=0.150,0.050;MQ=59.40;MQRankSum=-1.210e+00;QD=30.31;ReadPosRankSum=0.389;SOR=0.228	GT:AD:DP:GQ:PL	0/2:8,0,29:37:99:1034,1058,1366,0,308,193	15	3	0	1
chr11	1630164	1630223	CTGTGGCTCCTGTGGGGGGTCCAAGGGGGGCTGTGGCTCCTGTGGGGGGTCCAAGGGGGG	-	exonic	KRTAP5-5	.	nonframeshift deletion	KRTAP5-5:NM_001001480:exon1:c.324_383del:p.C132_Y218delinsYGCSQSSCCKPCCCSSGCGSSCCQSSCCKPYCCQSSCCKPYCCQSSCCKPCSCFSGCGSSCCQSSCYKPCCCQSSCCVPVCCQCKI*,	.	.	452	1018	30	9	13	61	0.0230326	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.621e-06	0	0	0	0	1.564e-05	0	0	.	.	.	.	0.0025	0.0025	0.0023	0.0027	0.0078	0.0024	0.0024	0.0070	0.0067	0.0078	0.0033	0.0093	0.0001	0.0010	0.0059	0.0020	0.0044	0.0048	0.0009	0.0043	0.0009	0.0008	0.0016	0.0007	0.0006	0.0012	0.0010	0.0016	0	0.0003	0.0020	0	0	0.0085	0.0006	0.0030	0.0005	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	2243.01	34	chr11	1630163	.	CCTGTGGCTCCTGTGGGGGGTCCAAGGGGGGCTGTGGCTCCTGTGGGGGGTCCAAGGGGGG	CCTGTGGCTCCTGTGGGGGGTCCAAGGGGGG,C	2243.01	.	AC=6,2;AF=0.150,0.050;AN=40;BaseQRankSum=0.830;DP=1501;ExcessHet=0.0002;FS=4.867;InbreedingCoeff=0.6313;MLEAC=6,2;MLEAF=0.150,0.050;MQ=59.40;MQRankSum=-1.210e+00;QD=30.31;ReadPosRankSum=0.389;SOR=0.228	GT:AD:DP:GQ:PL	0/2:8,0,29:37:99:1034,1058,1366,0,308,193	15	3	0	1
chr11	1630364	1630368	AGTCC	0	exonic	KRTAP5-5	.	.	.	.	.	439	687	51	4	341	400	0.0411724	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2381	5209.38	39	chr11	1630364	.	AGTCC	*,A	5209.38	.	AC=9,2;AF=0.214,0.048;AN=42;BaseQRankSum=0.573;DP=3134;ExcessHet=2.2868;FS=0.532;InbreedingCoeff=-0.1085;MLEAC=9,2;MLEAF=0.214,0.048;MQ=57.01;MQRankSum=-2.192e+00;QD=2.91;ReadPosRankSum=-1.810e-01;SOR=0.799	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:123,76,0:199:99:.:.:1724,0,4298,2090,4527,6617	11	0	8	0
chr11	1630369	1630395	AGCTGCTGTAAGCCTTACTGCTGCCAG	0	exonic	KRTAP5-5	.	.	.	.	.	437	689	51	4	341	400	0.0410578	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2381	5142.38	39	chr11	1630369	.	AGCTGCTGTAAGCCTTACTGCTGCCAG	*,A	5142.38	.	AC=9,2;AF=0.214,0.048;AN=42;BaseQRankSum=1.23;DP=3144;ExcessHet=2.2868;FS=0.532;InbreedingCoeff=-0.1085;MLEAC=9,2;MLEAF=0.214,0.048;MQ=57.16;MQRankSum=-2.192e+00;QD=2.88;ReadPosRankSum=-3.820e-01;SOR=0.802	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:123,76,0:199:99:.:.:1724,0,4298,2090,4527,6617	11	0	8	0
chr11	1630383	1630413	TTACTGCTGCCAGTCCAGCTGCTGTAAGCCC	0	exonic	KRTAP5-5	.	.	.	.	.	532	195	381	185	229	980	0.658195	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5238	48108.27	39	chr11	1630383	.	TTACTGCTGCCAGTCCAGCTGCTGTAAGCCC	T,*	48108.27	.	AC=16,11;AF=0.381,0.262;AN=42;BaseQRankSum=-2.940e-01;DP=3975;ExcessHet=0.8717;FS=0.000;InbreedingCoeff=0.0667;MLEAC=16,11;MLEAF=0.381,0.262;MQ=58.70;MQRankSum=-5.308e+00;QD=15.77;ReadPosRankSum=0.914;SOR=0.697	GT:AD:DP:GQ:PGT:PID:PL:PS	1/2:0,82,76:158:99:.:.:5807,2159,2500,2785,0,3687	3	3	5	0
chr11	1747855	1747855	G	A	exonic	IFITM10	.	nonsynonymous SNV	IFITM10:NM_001170820:exon2:c.C349T:p.R117W,	.	.	403	1063	53	3	0	59	0.0270023	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	.	.	.	.	0.305	U	0.950	D	0.975	L	0.7	T	-0.880	T	0.099	T	0.389	3.007	16.03	2.6	1.471	3.334	10.006	0.113	.	0.0059	0.00479233	0.0135	0.0010	0.0091	0	0.0013	0.0118	0.0060	0.0327	0.0031759	491	154602	rs190833491	0.0086	0.0083	0.0082	0.0091	0.0270	0.0085	0.0084	0.0235	0.0222	0.0016	0.0058	0.0158	0	0.0026	0.0270	0.0085	0.0095	0.0180	0.0058	0.0058	0.0059	0.0056	0.0133	0.0055	0.0053	0.0106	0.0097	0.0015	0.0011	0.0059	0.0173	0.0002	0.0014	0.0340	0.0081	0.0119	0.0133	0.0	0.91255	D	0.001	0.83351	D	.	.	.	.	.	.	0.304973	0.14532	U	0.585427	0.949505	0.37655	D	0.895	0.22405	L	0.7	0.51474	T	-3.29	0.65742	D	0.496	0.52918	-0.8802	0.49746	T	0.099	0.37034	T	8	0.007443428	0.00169	T	.	.	.	0.113	0.31778	.	.	0.483670899158	0.47999	0.4080566555781379	0.40721	.	.	0.858771443367	0.90929	D	0.079636	0.36175	T	-0.403777	0.02186	T	-0.337838	0.40590	T	0.0390152272993604	0.03513	T	0.90231	0.65919	D	0.23435475	0.46254	0.26971132	0.52854	0.23435475	0.46254	0.26971132	0.52853	-5.023	0.37089	T	.	.	0.217	0.57230	B	.;.;.	.;.;.	3.162821	0.42862	21.6	0.99864039732502885	0.94184	0.79864	0.39661	D	AEFDBHCIJ	0.464640	0.51305	N	-0.075401472781962	0.38473	2.25391	-0.103824497521162	0.35235	2.036153	0.999999223515479	0.74766	0.582742	0.33608	0	0.588066	0.40923	0	0.61531	0.40942	0	0.620976	0.48614	0	.	.	2.6	2.6	0.30173	2.462000	0.44706	4.026000	0.41295	0.524000	0.24156	1.000000	0.71638	1.000000	0.68203	0.094000	0.17991	0.0:0.0:0.7973:0.2027	10.006	0.41129	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	0.02381	2462.98	35	chr11	1747855	.	G	A	2462.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.270e-01;DP=890;ExcessHet=0.0000;FS=2.462;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.38;ReadPosRankSum=-8.370e-01;SOR=0.526	GT:AD:DP:GQ:PL	0/1:99,100:199:99:2477,0,2447	20	0	1	0
chr11	2133063	2133063	C	T	exonic	IGF2	.	nonsynonymous SNV	IGF2:NM_000612:exon4:c.G467A:p.R156H	.	.	416	1104	2	0	0	2	0.000904977	.	.	724360	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0	D	0.047	B	0.029	B	0.000	N	1.000	D	2.61	M	-0.6	T	-0.924	T	0.083	T	0.17	1.147	9.671	-1.45	-0.466	0.880	3.235	0.182	.	0.0112	0.0127796	0.0034	0.0355	0.0013	0	0	0.0003	0.0012	7.329e-05	0.0031824	492	154602	rs61732764	0.0012	0.0012	0.0013	0.0011	0.0360	0.0012	0.0012	0.0343	0.0337	0.0360	0.0016	0	2.546e-05	0	0.0030	0.0003	0.0027	0.0002	0.0097	0.0097	0.0106	0.0086	0.0330	0.0092	0.0091	0.0316	0.0310	0.0330	0	0.0040	0	0.0002	0	0	0.0003	0.0052	0.0002	0.014	0.53172	D	0.002	0.83351	D	0.047	0.21998	B	0.018	0.18489	B	0.000010	0.62929	N	0.064020	0.996891	0.44686	D	2.205	0.62170	M	-0.6	0.71662	T	-2.43	0.59059	N	0.137	0.17278	-0.9237	0.45041	T	0.083	0.32499	T	10	0.0084246695	0.00191	T	.	.	.	0.182	0.45420	.	.	0.684305649397	0.68161	0.6169592410154948	0.61627	0.892025483038	0.70256	0.266617000103	0.05704	T	0.583595	0.86402	D	-0.453094	0.01083	T	-0.397852	0.33633	T	0.0422529701050287	0.04101	T	0.877312	0.61335	D	0.07571683	0.17078	0.053804606	0.09132	0.06531305	0.13945	0.069423236	0.14624	-4.092	0.26301	T	0.2732813482623065	0.36727	0.072	0.04159	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	1.230067	0.16246	12.42	0.95846955872685935	0.27981	0.34969	0.25192	N	AEFDBHCIJ	0.409220	0.48058	N	-1.01327884040713	0.08328	0.3900818	-1.17003590641292	0.06415	0.3087488	0.999970717371	0.50053	0.615465	0.37627	0	0.578056	0.33634	0	0.576033	0.28219	0	0.655142	0.61905	0	.	.	3.06	-1.45	0.08365	0.881000	0.27811	0.562000	0.19521	-0.783000	0.03311	0.014000	0.18986	0.035000	0.21413	0.001000	0.02609	0.1837:0.4777:0.0:0.3386	3.235	0.06361	988	0.01987	Insulin-like growth factor II E-peptide, C-terminal|Insulin-like growth factor II E-peptide, C-terminal;.;Insulin-like growth factor II E-peptide, C-terminal|Insulin-like growth factor II E-peptide, C-terminal;Insulin-like growth factor II E-peptide, C-terminal|Insulin-like growth factor II E-peptide, C-terminal;.;.;Insulin-like growth factor II E-peptide, C-terminal|Insulin-like growth factor II E-peptide, C-terminal;Insulin-like growth factor II E-peptide, C-terminal|Insulin-like growth factor II E-peptide, C-terminal	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	843.98	44	chr11	2133063	.	C	T	843.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.54;DP=793;ExcessHet=0.0000;FS=1.897;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.72;ReadPosRankSum=0.620;SOR=0.827	GT:AD:DP:GQ:PL	0/1:37,35:72:99:858,0,817	20	0	1	0
chr11	2884879	2884890	GGGGCCGGGGCT	-	exonic	CDKN1C	.	nonframeshift deletion	CDKN1C:NM_000076:exon1:c.600_611del:p.A213_P216del	Beckwith-Wiedemann syndrome, Autosomal dominant;IMAGE syndrome, Autosomal dominant	.	584	934	2	0	2	4	0.00106952	.	.	241108	Beckwith-Wiedemann_syndrome|CDKN1C-related_disorder|Inborn_genetic_diseases|not_specified|not_provided	MONDO:MONDO:0007534,MedGen:C0004903,OMIM:130650,Orphanet:116|.|MeSH:D030342,MedGen:C0950123|MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.68e-05	2	26028	rs878853634	0.0004	0.0003	0.0004	0.0004	0.0090	0.0004	0.0004	0.0077	0.0073	0.0090	0	0	0.0055	0	0.0012	9.131e-05	0.0013	0.0032	0.0039	0.0039	0.0041	0.0038	0.0110	0.0037	0.0035	0.0101	0.0098	0.0110	0	0.0017	0	0.0105	0	0	0.0002	0.0056	0.0048	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	71.39	7	chr11	2884878	.	CGGGGCCGGGGCT	C	71.39	.	AC=2;AF=0.050;AN=40;DP=179;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=0.5313;MLEAC=1;MLEAF=0.025;MQ=60.00;QD=22.68;SOR=2.303	GT:AD:DP:GQ:PL	1/1:0,2:2:7:91,7,0	19	1	0	1
chr11	4991416	4991416	G	A	exonic	MMP26	.	nonsynonymous SNV	MMP26:NM_001384608:exon6:c.G305A:p.G102D	.	.	432	1077	13	0	0	13	0.00599908	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.992	D	0.913	D	0.568	U	0.882	N	1.58	L	1.87	T	-0.867	T	0.089	T	0.64	2.701	14.99	-1.05	-0.171	2.414	16.845	0.242	0.00308616990615	0.0012	0.000998403	0.0011	0.0002	0.0005	0	0	0.0016	0.0033	0.0012	0.0012031	186	154602	rs61751340	0.0019	0.0019	0.0018	0.0019	0.0073	0.0018	0.0018	0.0055	0.0049	0.0005	0.0011	0.0002	0	0.0001	0.0073	0.0021	0.0021	0.0016	0.0015	0.0015	0.0015	0.0016	0.0035	0.0014	0.0013	0.0028	0.0025	0.0002	0	0.0035	0.0003	0	0	0.0068	0.0023	0.0024	0.0012	0.002	0.72154	D	0.009	0.66756	D	0.992	0.64738	D	0.913	0.64886	D	0.568098	0.11267	U	0.703549	0.881752	0.28037	N	2.395	0.69210	M	1.87	0.24085	T	-2.74	0.58248	D	0.686	0.69213	-0.8671	0.50746	T	0.089	0.34216	T	10	0.08237243	0.13587	T	0.003086	0.06666	T	0.242	0.54781	.	.	0.514643173473	0.51105	0.8974688508151613	0.89717	0.439074860247	0.43930	0.418037742376	0.27567	T	0.105367	0.41577	T	-0.355208	0.04408	T	-0.289175	0.45860	T	0.0550311356782913	0.06362	T	0.90391	0.66280	D	0.53117436	0.68897	0.545215	0.73712	0.53117436	0.68899	0.545215	0.73712	-10.404	0.76294	D	.	.	0.790	0.76833	P	.;.	.;.	1.916864	0.24347	16.36	0.99376710343439423	0.61671	0.56347	0.30094	D	AEFGHCI	0.259253	0.37763	N	-0.139300102080008	0.35690	2.053319	-0.302931778888355	0.28005	1.558053	0.0325008055410044	0.14057	0.525926	0.21836	0	0.615948	0.52940	0	0.615948	0.41167	0	0.564101	0.26826	0	.	.	3.93	-1.05	0.09523	2.716000	0.46888	.	.	-0.168000	0.11412	0.990000	0.36992	0.000000	0.08366	0.327000	0.25133	0.0:0.8122:0.1878:0.0	16.845	0.85844	879	0.29470	Peptidase M10, metallopeptidase|Peptidase, metallopeptidase|Peptidase M10A, catalytic domain;Peptidase M10, metallopeptidase|Peptidase, metallopeptidase|Peptidase M10A, catalytic domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1156.98	33	chr11	4991416	.	G	A	1156.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.611;DP=830;ExcessHet=0.0000;FS=1.576;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.23;ReadPosRankSum=-5.420e-01;SOR=0.547	GT:AD:DP:GQ:PL	0/1:55,48:103:99:1171,0,1344	20	0	1	0
chr11	5070094	5070094	C	T	exonic	OR52E1	.	unknown	UNKNOWN,	.	.	858	650	14	0	0	14	0.0106545	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00179712	0.0076	0	0.0142	0	0.0046	0.0084	0	0.0299	0.0012807	198	154602	rs570789731	0.0028	0.0016	0.0028	0.0029	0.0135	0.0027	0.0026	0.0087	0.0072	0.0001	0.0011	0.0261	0	0.0007	0.0135	0.0022	0.0036	0.0068	0.0020	0.0020	0.0020	0.0020	0.0083	0.0018	0.0017	0.0063	0.0056	0.0005	0	0.0009	0.0213	0	0.0006	0.0136	0.0020	0.0047	0.0083	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	2733.98	39	chr11	5070094	.	C	T	2733.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.156e+00;DP=1414;ExcessHet=0.0000;FS=0.484;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.94;ReadPosRankSum=0.512;SOR=0.717	GT:AD:DP:GQ:PL	0/1:125,104:229:99:2748,0,3492	20	0	1	0
chr11	5351792	5351792	C	G	exonic	OR51B6	.	nonsynonymous SNV	OR51B6:NM_001004750:exon1:c.C285G:p.C95W,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.000	D	1.000	D	4.72	H	6.65	T	-1.162	T	0.013	T	0.859	0.989	9.038	2.16	0.307	0.075	8.371	0.313	0.0559336047313	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0024	0.0093	0.0026	0.0022	0.0029	0.0023	0.0023	0.0028	0.0028	0.0027	6.717e-05	0.0009	0.0002	1.873e-05	0.0012	0.0029	0.0019	0.0007	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000016	0.62929	D	0.000000	1	0.81001	D	4.81	0.99662	H	6.65	0.00510	T	-10.89	0.99244	D	0.807	0.80278	-1.1620	0.00709	T	0.013	0.05033	T	10	0.9621227	0.95635	D	0.055934	0.66418	D	0.313	0.63482	0.748	0.87905	0.527045900269	0.52351	0.471107557204946	0.47029	0.0116871865332	0.01096	0.339552879333	0.16371	T	0.119847	0.44167	T	0.113068	0.65668	D	-0.0753619	0.65240	T	0.99993371963501	0.99782	D	0.909809	0.68064	D	0.97552437	0.98751	0.92103964	0.96471	0.97552437	0.98751	0.92103964	0.96472	-8.765	0.66172	D	.	.	0.343	0.56118	A	.	.	2.116618	0.26937	17.29	0.98967027029080845	0.49442	0.39672	0.26265	N	AEFBI	0.767818	0.70356	D	0.108662788856825	0.46867	2.920579	-0.159160573312792	0.33057	1.887009	0.0102554648337644	0.11993	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.01	2.16	0.26663	-0.170000	0.09886	.	.	-1.712000	0.00741	0.001000	0.13787	0.000000	0.08366	0.014000	0.10232	0.0:0.6705:0.0:0.3295	8.371	0.31576	861	0.33516	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.3438	1921.6	129	chr11	5351792	.	C	G	1921.6	.	AC=11;AF=0.344;AN=32;BaseQRankSum=-4.528e+00;DP=3508;ExcessHet=7.7275;FS=256.706;InbreedingCoeff=-0.4658;MLEAC=13;MLEAF=0.406;MQ=60.00;MQRankSum=0.00;QD=1.01;ReadPosRankSum=0.281;SOR=11.086	GT:AD:DP:GQ:PL	0/1:141,23:184:96:96,0,3842	5	0	11	5
chr11	5441176	5441176	C	-	exonic	OR51I1	.	frameshift deletion	OR51I1:NM_001005288:exon1:c.339delG:p.E113Dfs*8,	.	.	431	1088	3	0	0	3	0.00137678	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	.	0.0003	0	0	0	0	0.0002	0	0.0012	0.000207	32	154602	rs751969340	0.0002	0.0002	0.0001	0.0002	0.0013	0.0001	0.0001	0.0011	0.0011	0	0	0.0017	0	0	0.0010	4.227e-05	0.0002	0.0013	7.887e-05	7.88e-05	2.57e-05	0.0001	0.0008	4.498e-05	3.513e-05	0.0003	0.0002	0	0	0	0.0012	0	0	0	5.88e-05	0	0.0008	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2607.94	120	chr11	5441175	.	AC	A	2607.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.115;DP=1653;ExcessHet=0.0000;FS=0.602;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=17.39;ReadPosRankSum=-1.583e+00;SOR=0.632	GT:AD:DP:GQ:PL	0/1:73,77:150:99:2622,0,2498	20	0	1	0
chr11	6200107	6200107	C	G	exonic	OR52W1	.	nonsynonymous SNV	OR52W1:NM_001005178:exon1:c.C884G:p.P295R,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.977	D	0.689	P	0.034	N	0.570	D	4.255	H	-0.08	T	0.418	D	0.499	T	0.685	1.906	12.33	3.23	0.271	3.583	13.827	0.400	0.0539634185351	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0007	0.0021	0.0008	0.0006	0.0008	0.0006	0.0006	0.0008	0.0008	0.0007	2.238e-05	0.0002	0.0002	1.93e-05	0.0005	0.0008	0.0004	0.0003	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	0.977	0.58535	D	0.689	0.53736	P	0.034271	0.24791	N	0.198413	0.569916	0.32285	D	5.07	0.99906	H	-0.08	0.63911	T	-8.12	0.96707	D	0.8	0.79599	0.418	0.89363	D	0.499	0.81057	T	10	0.9466181	0.93989	D	0.053963	0.65674	D	0.400	0.71401	0.737	0.86978	0.756562400578	0.75435	0.47455396514490583	0.47374	0.062343724922	0.06938	0.315678536892	0.12767	T	0.146888	0.48470	T	0.167539	0.70898	D	0.00288233	0.70523	D	0.995080590248108	0.86803	D	0.934707	0.75503	D	0.9610508	0.97386	0.9567188	0.98791	0.9610508	0.97386	0.9567188	0.98791	-12.124	0.85450	D	.	.	0.505	0.64808	A	.	.	2.707812	0.35383	19.88	0.97301537367121227	0.33280	0.95966	0.66930	D	AEFBI	0.511260	0.53997	D	0.208503100090119	0.51610	3.340933	0.082639564659092	0.43676	2.664457	0.99944430790802	0.39736	0.428477	0.06694	0	0.547309	0.14657	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	5.11	3.23	0.36150	4.053000	0.57139	3.151000	0.36525	-0.172000	0.11096	0.999000	0.42656	0.986000	0.30841	0.667000	0.33166	0.0:0.8582:0.0:0.1418	13.827	0.62847	665	0.61472	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.2143	1980.01	154	chr11	6200107	.	C	G	1980.01	.	AC=9;AF=0.214;AN=42;BaseQRankSum=-6.829e+00;DP=2478;ExcessHet=4.7172;FS=120.687;InbreedingCoeff=-0.2727;MLEAC=9;MLEAF=0.214;MQ=60.00;MQRankSum=0.00;QD=1.23;ReadPosRankSum=1.61;SOR=11.011	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:177,21:205:99:.:.:244,0,6797	12	0	9	0
chr11	6200109	6200109	C	G	exonic	OR52W1	.	nonsynonymous SNV	OR52W1:NM_001005178:exon1:c.C886G:p.L296V,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.43	T	0.911	P	0.158	B	0.004	N	0.906	D	1.675	L	1.07	T	-0.977	T	0.081	T	0.099	1.942	12.45	5.11	2.518	-0.072	13.517	0.088	0.0114858743224	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.313	0.13879	T	0.419	0.14158	T	0.911	0.50336	P	0.158	0.34617	B	0.003626	0.34687	N	0.000000	0.905535	0.36277	D	0.41	0.12415	N	1.07	0.39586	T	0.43	0.03297	N	0.052	0.02366	-0.9765	0.35794	T	0.081	0.32090	T	10	0.1060805	0.19639	T	0.011486	0.29167	T	0.088	0.25558	0.397	0.42426	0.207176502487	0.20327	0.04900367529630378	0.04843	0.0233216950399	0.02366	0.204009205103	0.00582	T	5.16E-4	0.00194	T	-0.253739	0.13642	T	-0.602255	0.12622	T	0.502938449382782	0.32737	D	0.70483	0.31518	T	0.12892555	0.30127	0.11809379	0.28508	0.12892555	0.30127	0.11809379	0.28508	-3.839	0.21388	T	.	.	0.096	0.15385	B	.	.	2.102681	0.26757	17.23	0.99468787433388461	0.66207	0.36052	0.25444	N	AEFBI	0.406343	0.47887	N	-0.0291148856449301	0.40540	2.409298	-0.00557001676917808	0.39462	2.340232	0.999715313907442	0.42101	0.428477	0.06694	0	0.547309	0.14657	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	5.11	5.11	0.69188	-0.358000	0.07692	0.729000	0.21072	0.599000	0.40250	0.000000	0.06391	0.185000	0.23452	0.633000	0.32236	0.1663:0.8337:0.0:0.0	13.517	0.61000	665	0.61472	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.2143	2170.01	155	chr11	6200109	.	C	G	2170.01	.	AC=9;AF=0.214;AN=42;BaseQRankSum=-6.569e+00;DP=2452;ExcessHet=4.7172;FS=131.986;InbreedingCoeff=-0.2727;MLEAC=9;MLEAF=0.214;MQ=60.00;MQRankSum=0.00;QD=1.32;ReadPosRankSum=1.54;SOR=11.175	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:177,33:210:99:0|1:6200108_C_G:308,0,6794:6200108	12	0	9	0
chr11	6390705	6390711	TGCTGGC	0	exonic	SMPD1	.	.	.	Niemann-Pick disease, type A, Autosomal recessive;Niemann-Pick disease, type B, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6667	55208.52	52	chr11	6390705	.	TGCTGGC	CGCTGGC,T,*,TGGCGCTGGC,TGGCGCTGGCGCTGGC	55208.52	.	AC=23,14,2,2,1;AF=0.548,0.333,0.048,0.048,0.024;AN=42;BaseQRankSum=2.04;DP=2079;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=NaN;MLEAC=23,14,2,2,1;MLEAF=0.548,0.333,0.048,0.048,0.024;MQ=59.99;MQRankSum=0.00;QD=32.84;ReadPosRankSum=1.69;SOR=0.473	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,95,0,0,0,0:95:99:.:.:2942,285,0,2861,289,3202,2861,289,3202,3202,2861,289,3202,3202,3202,2861,289,3202,3202,3202,3202	0	5	0	0
chr11	6390705	6390705	-	GGC	exonic	SMPD1	.	nonframeshift insertion	SMPD1:NM_000543:exon1:c.107_108insGGC:p.V36_L37insA	Niemann-Pick disease, type A, Autosomal recessive;Niemann-Pick disease, type B, Autosomal recessive	.	66	5	343	388	720	1839	0.991143	.	.	526543	not_specified|not_provided|Niemann-Pick_disease,_type_B|Niemann-Pick_disease,_type_A	MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0011871,MedGen:C0268243,OMIM:607616,Orphanet:77293|MONDO:MONDO:0009756,MedGen:C0268242,OMIM:257200,Orphanet:77292	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0063	0.0019	0.0048	0.0047	0.0086	0.0021	0.0111	0.0252	0.0046895	725	154602	rs775568984	0.0048	0.0048	0.0041	0.0055	0.0294	0.0047	0.0046	0.0284	0.0280	0.0030	0.0070	0.0053	0.0069	0.0151	0.0054	0.0022	0.0059	0.0294	0.0053	0.0052	0.0042	0.0063	0.0345	0.0050	0.0048	0.0301	0.0284	0.0029	0	0.0061	0.0041	0.0086	0.0179	0.0221	0.0024	0.0015	0.0345	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6667	55208.52	52	chr11	6390705	.	TGCTGGC	CGCTGGC,T,*,TGGCGCTGGC,TGGCGCTGGCGCTGGC	55208.52	.	AC=23,14,2,2,1;AF=0.548,0.333,0.048,0.048,0.024;AN=42;BaseQRankSum=2.04;DP=2079;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=NaN;MLEAC=23,14,2,2,1;MLEAF=0.548,0.333,0.048,0.048,0.024;MQ=59.99;MQRankSum=0.00;QD=32.84;ReadPosRankSum=1.69;SOR=0.473	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,95,0,0,0,0:95:99:.:.:2942,285,0,2861,289,3202,2861,289,3202,3202,2861,289,3202,3202,3202,2861,289,3202,3202,3202,3202	0	5	0	0
chr11	6533137	6533137	C	T	exonic	DNHD1	.	stopgain	DNHD1:NM_144666:exon13:c.C2458T:p.R820X,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.8	T	.	.	.	.	.	.	1.000	A	.	.	.	.	.	.	.	.	.	6.534	37	6.17	2.941	2.396	13.244	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1174340762	1.358e-05	1.3e-05	1.128e-05	1.594e-05	5.048e-05	8.68e-06	7e-06	1.678e-05	9.94e-06	0	0	0	0	0	0	1.39e-05	0	5.048e-05	6.572e-06	6.567e-06	1.285e-05	0	6.545e-05	0	0	.	.	0	0	6.545e-05	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.304	0.34336	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.495825	0.94169	D	0.60222	0.97155	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive;Recessive	High;High	7.789698	0.96863	36	0.99794034225393746	0.87928	0.90652	0.52007	D	AEFBI	0.096992	0.19571	N	0.781677882713241	0.84945	8.432213	0.630227098670999	0.77145	6.623448	0.780131527314596	0.23827	0.732398	0.92422	0	0.743671	0.97443	0	0.566861	0.19136	0	0.635551	0.53088	0	.	.	6.17	6.17	0.99707	2.310000	0.43368	7.656000	0.63963	0.599000	0.40250	0.993000	0.37899	1.000000	0.68203	0.053000	0.15439	0.1584:0.8416:0.0:0.0	13.244	0.59439	457	0.78953	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2170.98	36	chr11	6533137	.	C	T	2170.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.57;DP=878;ExcessHet=0.0000;FS=8.525;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.86;ReadPosRankSum=-6.270e-01;SOR=0.571	GT:AD:DP:GQ:PL	0/1:96,87:183:99:2185,0,2153	20	0	1	0
chr11	8620456	8620456	T	C	exonic	TRIM66	.	nonsynonymous SNV	TRIM66:NM_014818:exon16:c.A3134G:p.Y1045C,	.	.	428	1087	7	0	0	7	0.00320954	.	.	724779	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.19	T	0.0	B	0.002	B	0.293	N	1.000	N	1.04	L	2.18	T	-1.024	T	0.020	T	0.203	0.755	7.997	-0.576	-0.185	-0.215	2.045	0.016	0.00559093928902	0.0020	0.00139776	0.0029	0	0.0025	0	0.0019	0.0021	0	0.0051	0.000925	143	154602	rs150122555	0.0030	0.0029	0.0029	0.0031	0.0060	0.0029	0.0029	0.0056	0.0054	0.0003	0.0016	7.942e-05	0	0.0016	0.0023	0.0031	0.0023	0.0060	0.0014	0.0014	0.0016	0.0012	0.0043	0.0012	0.0012	0.0029	0.0024	0.0003	0	0.0009	0	0	0.0008	0.0068	0.0022	0.0009	0.0043	0.124	0.27426	T	0.222	0.25748	T	0.0	0.02946	B	0.002	0.06944	B	0.292520	0.14743	N	0.636987	1	0.08975	N	0.82	0.20857	L	2.18	0.18875	T	-2.9	0.60827	D	0.15	0.19593	-1.0236	0.22541	T	0.020	0.08593	T	10	0.006609887	0.00150	T	0.005591	0.14439	T	0.016	0.02506	.	.	0.456919554969	0.45315	0.348380332175529	0.34752	.	.	0.283593297005	0.07998	T	0.010932	0.09820	T	-0.587384	0.00174	T	-0.614178	0.11647	T	0.00531661494495759	0.00057	T	0.743326	0.38541	T	0.36613774	0.58299	0.14091498	0.33575	0.36613774	0.58299	0.14091498	0.33574	-1.771	0.02424	T	.	.	0.073	0.09385	B	.;.;.	.;.;.	0.618312	0.09867	6.629	0.86719478259353766	0.16726	0.02196	0.06414	N	AEFDBI	0.049144	0.08460	N	-0.910700696444323	0.10591	0.5068283	-0.924207046547608	0.11524	0.5875796	6.7718820559735E-4	0.07599	0.651	0.46895	0	0.653731	0.59785	0	0.653264	0.51672	0	0.683762	0.67416	0	.	.	4.68	-0.576	0.11143	-0.332000	0.07948	-1.859000	0.04598	0.665000	0.62972	0.000000	0.06391	0.000000	0.08366	0.921000	0.45669	0.115:0.1963:0.1347:0.554	2.045	0.03343	502	0.75873	Bromodomain;Bromodomain;Bromodomain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1096.98	34	chr11	8620456	.	T	C	1096.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.562;DP=819;ExcessHet=0.0000;FS=8.029;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.97;ReadPosRankSum=-9.100e-01;SOR=1.330	GT:AD:DP:GQ:PL	0/1:56,44:100:99:1111,0,1460	20	0	1	0
chr11	10853306	10853306	C	T	exonic	ZBED5	.	nonsynonymous SNV	ZBED5:NM_001143667:exon3:c.G1640A:p.S547N	.	.	435	1018	63	6	0	75	0.0355282	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.58	T	0.838	P	0.429	B	.	.	0.966	N	0.995	L	2.07	T	-1.104	T	0.030	T	0.166	0.971	8.963	3.88	2.451	0.840	11.645	0.051	.	0.0018	0.00359425	0.0089	0.0024	0.0027	0	0	0.0033	0.0102	0.0179	0.0018693	289	154602	rs149344014	0.0040	0.0039	0.0036	0.0045	0.0253	0.0040	0.0039	0.0219	0.0206	0.0005	0.0048	0.0039	0	0.0006	0.0253	0.0034	0.0049	0.0163	0.0031	0.0031	0.0027	0.0036	0.0180	0.0029	0.0028	0.0150	0.0138	0.0006	0.0175	0.0052	0.0026	0.0002	0.0007	0.0170	0.0034	0.0061	0.0180	0.297	0.14645	T	0.275	0.22016	T	0.838	0.46404	P	0.429	0.45365	B	.	.	.	.	0.965601	0.25931	N	1.195	0.30194	L	2.07	0.20387	T	-0.25	0.11008	N	0.132	0.12770	-1.1044	0.03598	T	0.030	0.13067	T	9	0.005743891	0.00128	T	.	.	.	0.051	0.14325	.	.	0.152612264143	0.14878	0.3926522387171367	0.39180	.	.	0.546009838581	0.45294	T	0.011072	0.09929	T	-0.545125	0.00312	T	-0.542837	0.18018	T	0.0192128586043698	0.00628	T	0.316468	0.06291	T	0.099952675	0.23594	0.09674408	0.23000	0.099952675	0.23594	0.09674408	0.22999	-3.472	0.16042	T	.	.	0.097	0.15698	B	.;.	.;.	1.524214	0.19565	14.33	0.9633974236410533	0.29476	0.70214	0.34498	D	AEFBI	0.081199	0.16429	N	0.0833933956385252	0.45690	2.821236	0.136925729028954	0.46454	2.891047	0.999998665454906	0.74766	0.719381	0.83141	0	0.723133	0.82719	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	3.88	3.88	0.43959	0.847000	0.27348	1.032000	0.23488	0.454000	0.21428	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:1.0:0.0:0.0	11.645	0.50517	587	0.69154	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	3935.11	92	chr11	10853306	.	C	T	3935.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.03;DP=970;ExcessHet=0.1072;FS=2.713;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=15.08;ReadPosRankSum=0.759;SOR=0.621	GT:AD:DP:GQ:PL	0/1:71,73:144:99:2195,0,1935	19	0	2	0
chr11	12294806	12294806	-	CTC	exonic	MICALCL	.	nonframeshift insertion	MICALCL:NM_032867:exon3:c.1375_1376insCTC:p.P470_T471insP,	.	.	406	730	54	33	299	419	0.0759494	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.381	23983.92	69	chr11	12294797	.	GCTCCTCCTC	GCTCCTCCTCCTC,GCTCCTCCTCCTCCTCCTC,GCTCCTCCTCCTCCTC,GCTCCTCCTCCTCCTCCTCCTC,G,GCTC	23983.92	.	AC=5,5,5,4,1,1;AF=0.119,0.119,0.119,0.095,0.024,0.024;AN=42;BaseQRankSum=-2.500e-02;DP=2391;ExcessHet=0.5132;FS=1.240;InbreedingCoeff=0.1429;MLEAC=5,5,5,4,1,1;MLEAF=0.119,0.119,0.119,0.095,0.024,0.024;MQ=60.00;MQRankSum=0.00;QD=25.43;ReadPosRankSum=0.813;SOR=0.827	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:50,34,0,0,0,0,0:84:99:0|1:12294797_G_GCTC:1140,0,1963,1292,2066,3357,1292,2066,3357,3357,1292,2066,3357,3357,3357,1292,2066,3357,3357,3357,3357,1292,2066,3357,3357,3357,3357,3357:12294797	6	0	4	0
chr11	12294806	12294806	-	CTCCTCCTC	exonic	MICALCL	.	nonframeshift insertion	MICALCL:NM_032867:exon3:c.1375_1376insCTCCTCCTC:p.P470_T471insPPP,	.	.	406	730	54	33	299	419	0.0759494	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.381	23983.92	69	chr11	12294797	.	GCTCCTCCTC	GCTCCTCCTCCTC,GCTCCTCCTCCTCCTCCTC,GCTCCTCCTCCTCCTC,GCTCCTCCTCCTCCTCCTCCTC,G,GCTC	23983.92	.	AC=5,5,5,4,1,1;AF=0.119,0.119,0.119,0.095,0.024,0.024;AN=42;BaseQRankSum=-2.500e-02;DP=2391;ExcessHet=0.5132;FS=1.240;InbreedingCoeff=0.1429;MLEAC=5,5,5,4,1,1;MLEAF=0.119,0.119,0.119,0.095,0.024,0.024;MQ=60.00;MQRankSum=0.00;QD=25.43;ReadPosRankSum=0.813;SOR=0.827	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:50,34,0,0,0,0,0:84:99:0|1:12294797_G_GCTC:1140,0,1963,1292,2066,3357,1292,2066,3357,3357,1292,2066,3357,3357,3357,1292,2066,3357,3357,3357,3357,1292,2066,3357,3357,3357,3357,3357:12294797	6	0	4	0
chr11	12294806	12294806	-	CTCCTC	exonic	MICALCL	.	nonframeshift insertion	MICALCL:NM_032867:exon3:c.1375_1376insCTCCTC:p.P470_T471insPP,	.	.	406	730	54	33	299	419	0.0759494	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.381	23983.92	69	chr11	12294797	.	GCTCCTCCTC	GCTCCTCCTCCTC,GCTCCTCCTCCTCCTCCTC,GCTCCTCCTCCTCCTC,GCTCCTCCTCCTCCTCCTCCTC,G,GCTC	23983.92	.	AC=5,5,5,4,1,1;AF=0.119,0.119,0.119,0.095,0.024,0.024;AN=42;BaseQRankSum=-2.500e-02;DP=2391;ExcessHet=0.5132;FS=1.240;InbreedingCoeff=0.1429;MLEAC=5,5,5,4,1,1;MLEAF=0.119,0.119,0.119,0.095,0.024,0.024;MQ=60.00;MQRankSum=0.00;QD=25.43;ReadPosRankSum=0.813;SOR=0.827	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:50,34,0,0,0,0,0:84:99:0|1:12294797_G_GCTC:1140,0,1963,1292,2066,3357,1292,2066,3357,3357,1292,2066,3357,3357,3357,1292,2066,3357,3357,3357,3357,1292,2066,3357,3357,3357,3357,3357:12294797	6	0	4	0
chr11	12294806	12294806	-	CTCCTCCTCCTC	exonic	MICALCL	.	nonframeshift insertion	MICALCL:NM_032867:exon3:c.1375_1376insCTCCTCCTCCTC:p.P470_T471insPPPP,	.	.	406	730	54	33	299	419	0.0759494	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.381	23983.92	69	chr11	12294797	.	GCTCCTCCTC	GCTCCTCCTCCTC,GCTCCTCCTCCTCCTCCTC,GCTCCTCCTCCTCCTC,GCTCCTCCTCCTCCTCCTCCTC,G,GCTC	23983.92	.	AC=5,5,5,4,1,1;AF=0.119,0.119,0.119,0.095,0.024,0.024;AN=42;BaseQRankSum=-2.500e-02;DP=2391;ExcessHet=0.5132;FS=1.240;InbreedingCoeff=0.1429;MLEAC=5,5,5,4,1,1;MLEAF=0.119,0.119,0.119,0.095,0.024,0.024;MQ=60.00;MQRankSum=0.00;QD=25.43;ReadPosRankSum=0.813;SOR=0.827	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:50,34,0,0,0,0,0:84:99:0|1:12294797_G_GCTC:1140,0,1963,1292,2066,3357,1292,2066,3357,3357,1292,2066,3357,3357,3357,1292,2066,3357,3357,3357,3357,1292,2066,3357,3357,3357,3357,3357:12294797	6	0	4	0
chr11	12294798	12294806	CTCCTCCTC	-	exonic	MICALCL	.	nonframeshift deletion	MICALCL:NM_032867:exon3:c.1367_1375del:p.P468_P470del,	.	.	406	730	54	33	299	419	0.0759494	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0140	.	0.0027	0.0050	0.0026	0.0015	0.0007	0.0029	0.0042	0.0020	0.0005379	14	26028	rs761605598	0.0069	0.0073	0.0069	0.0069	0.0141	0.0068	0.0067	0.0130	0.0126	0.0141	0.0080	0.0114	0.0007	0.0005	0.0089	0.0070	0.0088	0.0060	0.0111	0.0096	0.0115	0.0106	0.0238	0.0106	0.0104	0.0222	0.0215	0.0238	0	0.0146	0.0137	0.0013	0.0009	0.0324	0.0073	0.0091	0.0083	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.381	23983.92	69	chr11	12294797	.	GCTCCTCCTC	GCTCCTCCTCCTC,GCTCCTCCTCCTCCTCCTC,GCTCCTCCTCCTCCTC,GCTCCTCCTCCTCCTCCTCCTC,G,GCTC	23983.92	.	AC=5,5,5,4,1,1;AF=0.119,0.119,0.119,0.095,0.024,0.024;AN=42;BaseQRankSum=-2.500e-02;DP=2391;ExcessHet=0.5132;FS=1.240;InbreedingCoeff=0.1429;MLEAC=5,5,5,4,1,1;MLEAF=0.119,0.119,0.119,0.095,0.024,0.024;MQ=60.00;MQRankSum=0.00;QD=25.43;ReadPosRankSum=0.813;SOR=0.827	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:50,34,0,0,0,0,0:84:99:0|1:12294797_G_GCTC:1140,0,1963,1292,2066,3357,1292,2066,3357,3357,1292,2066,3357,3357,3357,1292,2066,3357,3357,3357,3357,1292,2066,3357,3357,3357,3357,3357:12294797	6	0	4	0
chr11	12294801	12294806	CTCCTC	-	exonic	MICALCL	.	nonframeshift deletion	MICALCL:NM_032867:exon3:c.1370_1375del:p.P469_P470del,	.	.	406	730	54	33	299	419	0.0759494	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.381	23983.92	69	chr11	12294797	.	GCTCCTCCTC	GCTCCTCCTCCTC,GCTCCTCCTCCTCCTCCTC,GCTCCTCCTCCTCCTC,GCTCCTCCTCCTCCTCCTCCTC,G,GCTC	23983.92	.	AC=5,5,5,4,1,1;AF=0.119,0.119,0.119,0.095,0.024,0.024;AN=42;BaseQRankSum=-2.500e-02;DP=2391;ExcessHet=0.5132;FS=1.240;InbreedingCoeff=0.1429;MLEAC=5,5,5,4,1,1;MLEAF=0.119,0.119,0.119,0.095,0.024,0.024;MQ=60.00;MQRankSum=0.00;QD=25.43;ReadPosRankSum=0.813;SOR=0.827	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:50,34,0,0,0,0,0:84:99:0|1:12294797_G_GCTC:1140,0,1963,1292,2066,3357,1292,2066,3357,3357,1292,2066,3357,3357,3357,1292,2066,3357,3357,3357,3357,1292,2066,3357,3357,3357,3357,3357:12294797	6	0	4	0
chr11	12294842	12294842	A	0	exonic	MICALCL	.	.	.	.	.	612	397	355	151	7	664	0.452791	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3824	20646.17	38	chr11	12294842	.	A	C,*	20646.17	.	AC=13,3;AF=0.382,0.088;AN=34;BaseQRankSum=1.48;DP=1943;ExcessHet=0.0321;FS=0.000;InbreedingCoeff=0.1821;MLEAC=15,3;MLEAF=0.441,0.088;MQ=59.98;MQRankSum=0.00;QD=20.18;ReadPosRankSum=1.33;SOR=0.685	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:53,69,0:122:99:1|0:12294797_G_GCTC:1962,0,1793,2122,2000,4122:12294797	6	2	6	4
chr11	17386938	17386938	G	C	exonic	KCNJ11	.	nonsynonymous SNV	KCNJ11:NM_000525:exon1:c.C1154G:p.S385C	Diabetes mellitus, transient neonatal, 3, Autosomal dominant;Diabetes, permanent neonatal, with or without neurologic features, Autosomal dominant;Hyperinsulinemic hypoglycemia, familial, 2, Autosomal recessive;Maturity-onset diabetes of the young, type 13, Autosomal dominant	.	0	1468	52	2	0	56	0.0187166	.	.	45093	Neonatal_diabetes_mellitus|not_provided|Diabetes_mellitus,_transient_neonatal,_3|Hyperinsulinemic_hypoglycemia,_familial,_2|Monogenic_diabetes|Maturity-onset_diabetes_of_the_young_type_13|not_specified|Maturity_onset_diabetes_mellitus_in_young	MONDO:MONDO:0016391,MedGen:C0158981,Orphanet:224|MedGen:C3661900|MONDO:MONDO:0012522,MedGen:C1864623,OMIM:610582,Orphanet:99886|MONDO:MONDO:0011153,MedGen:C2931833,OMIM:601820,Orphanet:276580,Orphanet:276603|MONDO:MONDO:0015967,MedGen:C3888631,Orphanet:183625|MONDO:MONDO:0014589,MedGen:C4225365,OMIM:616329,Orphanet:552|MedGen:CN169374|Human_Phenotype_Ontology:HP:0004904,MONDO:MONDO:0018911,MedGen:C0342276,OMIM:606391,Orphanet:552	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0	D	0.38	B	0.308	B	0.608	N	0.615	D	1.67	L	-2.25	D	0.183	D	0.417	T	0.259	2.088	12.94	5.17	2.398	3.469	14.127	0.369	.	0.0102	0.0109824	0.0050	0.0231	0.0028	0	0	0.0034	0.0154	0.0055	0.004683	724	154602	rs41282930	0.0033	0.0034	0.0033	0.0034	0.0253	0.0033	0.0032	0.0239	0.0234	0.0253	0.0038	0.0101	0.0001	0.0002	0.0245	0.0024	0.0059	0.0055	0.0094	0.0095	0.0097	0.0091	0.0246	0.0090	0.0089	0.0233	0.0228	0.0246	0	0.0085	0.0118	0.0002	0.0003	0.0340	0.0028	0.0133	0.0033	0.002	0.72154	D	0.009	0.66756	D	.	.	.	.	.	.	0.607718	0.10897	N	0.819694	0.614702	0.32652	D	.	.	.	-2.37	0.88220	D	-1.7	0.40468	N	0.174	0.18649	0.183	0.85615	D	0.417	0.76367	T	10	0.005117476	0.00111	T	.	.	.	0.369	0.68844	.	.	0.958566052307	0.95812	0.4760188451649058	0.47520	0.812429226841	0.66793	0.495120823383	0.38149	T	.	.	.	-0.300228	0.08639	T	-0.18578	0.55983	T	0.0173762586484723	0.00475	T	0.715628	0.32820	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.082	0.09385	B	.;.	.;.	3.729829	0.53349	23.4	0.97812369977749791	0.36136	0.46035	0.27671	N	AEFDGBHCI	0.289475	0.40111	N	0.241689725135397	0.53230	3.492802	0.337379174047973	0.57750	3.94205	0.999999999991511	0.74766	0.696267	0.57585	0	0.703908	0.78521	0	0.691665	0.62940	0	0.691587	0.68394	0	.	.	5.17	5.17	0.70848	3.069000	0.49724	7.525000	0.59824	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.977000	0.56843	0.0:0.1495:0.8505:0.0	14.127	0.64762	590	0.68897	.;.	.	.	.	.	.	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	0.04762	2027.11	83	chr11	17386938	.	G	C	2027.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.114;DP=1324;ExcessHet=0.1072;FS=2.566;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=10.50;ReadPosRankSum=0.655;SOR=0.504	GT:AD:DP:GQ:PL	0/1:56,54:110:99:1450,0,1548	19	0	2	0
chr11	18706106	18706108	CTT	-	exonic	IGSF22	.	nonframeshift deletion	IGSF22:NM_173588:exon22:c.3619_3621del:p.K1207del,	.	.	423	1090	8	1	0	10	0.00456621	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001	.	0.0004	0.0005	0	0	0	0.0005	0	0.0004	6.47e-05	10	154602	rs747048024	0.0003	0.0003	0.0003	0.0003	0.0033	0.0003	0.0003	0.0022	0.0018	9.495e-05	0.0004	0.0002	0.0001	4.483e-05	0.0033	0.0002	0.0003	0.0010	0.0003	0.0003	0.0003	0.0002	0.0008	0.0002	0.0002	0.0003	0.0003	0	0	0.0001	0	0.0002	0	0.0068	0.0004	0.0009	0.0008	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1803.94	33	chr11	18706105	.	CCTT	C	1803.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.410e-01;DP=789;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=21.48;ReadPosRankSum=0.243;SOR=0.814	GT:AD:DP:GQ:PL	0/1:38,46:84:99:1818,0,1447	20	0	1	0
chr11	31789914	31789915	TT	-	exonic	PAX6	.	frameshift deletion	PAX6:NM_001368929:exon9:c.729_730del:p.K244Gfs*7	Aniridia, Autosomal dominant;Anterior segment dysgenesis 5, multiple subtypes;Cataract with late-onset corneal dystrophy, Autosomal dominant;Foveal hypoplasia 1, Autosomal dominant;Keratitis, Autosomal dominant;Optic nerve hypoplasia, Autosomal dominant	.	5	30	45	6	140	197	0.487179	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	8623.07	44	chr11	31789912	.	CTTT	C,CT,CTT	8623.07	.	AC=4,9,18;AF=0.095,0.214,0.429;AN=42;BaseQRankSum=0.737;DP=1820;ExcessHet=7.7275;FS=2.324;InbreedingCoeff=-0.3548;MLEAC=4,9,18;MLEAF=0.095,0.214,0.429;MQ=59.99;MQRankSum=0.00;QD=10.79;ReadPosRankSum=0.919;SOR=0.976	GT:AD:DP:GQ:PL	2/3:10,6,12,13:44:14:413,163,689,14,271,273,89,91,0,186	0	0	0	0
chr11	31789915	31789915	T	-	exonic	PAX6	.	frameshift deletion	PAX6:NM_001368929:exon9:c.729delA:p.K244Rfs*29	Aniridia, Autosomal dominant;Anterior segment dysgenesis 5, multiple subtypes;Cataract with late-onset corneal dystrophy, Autosomal dominant;Foveal hypoplasia 1, Autosomal dominant;Keratitis, Autosomal dominant;Optic nerve hypoplasia, Autosomal dominant	.	5	30	45	6	140	197	0.487179	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	8623.07	44	chr11	31789912	.	CTTT	C,CT,CTT	8623.07	.	AC=4,9,18;AF=0.095,0.214,0.429;AN=42;BaseQRankSum=0.737;DP=1820;ExcessHet=7.7275;FS=2.324;InbreedingCoeff=-0.3548;MLEAC=4,9,18;MLEAF=0.095,0.214,0.429;MQ=59.99;MQRankSum=0.00;QD=10.79;ReadPosRankSum=0.919;SOR=0.976	GT:AD:DP:GQ:PL	2/3:10,6,12,13:44:14:413,163,689,14,271,273,89,91,0,186	0	0	0	0
chr11	45903154	45903154	G	A	exonic	MAPK8IP1	.	nonsynonymous SNV	MAPK8IP1:NM_005456:exon5:c.G1387A:p.V463I,	.	.	403	1116	3	0	0	3	0.00134228	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.11	T	0.947	P	0.362	B	0.000	D	1.000	D	1.83	L	0.97	T	-0.891	T	0.121	T	0.322	3.048	16.17	4.48	2.332	4.484	17.335	0.087	0.0238716936176	0.0002	0.000199681	0.0002	0.0002	0.0002	0	0.0002	0.0003	0	0.0003	0.0001876	29	154602	rs201654835	0.0001	0.0001	0.0001	0.0001	0.0007	9.803e-05	9.277e-05	0.0003	0.0003	0	0.0004	0	0	3.922e-05	0.0007	8.489e-05	0.0001	0.0004	0.0001	0.0001	0.0002	0.0001	0.0006	9.74e-05	8.255e-05	0.0003	0.0002	2.406e-05	0	0.0006	0	0	0	0	0.0001	0	0.0004	0.113	0.28772	T	0.091	0.41074	T	0.947	0.53479	P	0.362	0.43260	B	0.000000	0.84330	D	0.000000	0.999999	0.58761	D	2.65	0.77586	M	0.95	0.43279	T	-0.51	0.15986	N	0.592	0.61172	-0.8907	0.48873	T	0.121	0.42122	T	10	0.18819338	0.34364	T	0.023872	0.46847	T	0.087	0.25287	.	.	0.483898778967	0.48023	0.2689587552835672	0.26808	0.398042137382	0.40875	0.763436734676	0.76441	T	0.458588	0.79651	T	-0.310006	0.07747	T	-0.377102	0.36061	T	0.0524237240873991	0.05920	T	0.876912	0.58964	D	0.16282658	0.36385	0.13142736	0.31558	0.16282658	0.36385	0.13142736	0.31558	-7.593	0.58262	D	.	.	0.164	0.36214	B	.;.	.;.	3.863496	0.56045	23.7	0.99634245549321998	0.76264	0.72708	0.35579	D	AEFDGBCI	0.471670	0.51711	N	0.402867535844866	0.61581	4.361038	0.424490584255321	0.63093	4.536558	0.999991394628772	0.74766	0.695654	0.57023	0	0.550933	0.16991	0	0.723109	0.80598	0	0.699875	0.68795	0	.	.	4.48	4.48	0.53973	6.682000	0.74361	11.755000	0.95496	0.662000	0.56354	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:1.0:0.0	17.335	0.87166	459	0.78817	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2055.98	33	chr11	45903154	.	G	A	2055.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=4.66;DP=851;ExcessHet=0.0000;FS=6.141;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.18;ReadPosRankSum=0.285;SOR=1.172	GT:AD:DP:GQ:PL	0/1:71,74:145:99:2070,0,1501	20	0	1	0
chr11	46542503	46542503	C	T	exonic	AMBRA1	.	nonsynonymous SNV	AMBRA1:NM_001300731:exon7:c.G1514A:p.R505H	.	.	419	1101	2	0	0	2	0.000907441	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.996	D	0.000	N	1.000	D	0.975	L	-1.17	T	0.401	D	0.643	D	0.829	3.018	16.07	5.12	1.561	4.347	15.112	0.555	0.0716514688568	0.0008	0.00119808	0.0016	0.0003	0.0008	0	0	0.0018	0	0.0036	0.0015524	240	154602	rs145466300	0.0018	0.0018	0.0018	0.0019	0.0029	0.0018	0.0018	0.0026	0.0025	0.0002	0.0008	0.0010	0	0.0002	0.0026	0.0020	0.0013	0.0029	0.0013	0.0013	0.0011	0.0015	0.0022	0.0012	0.0011	0.0016	0.0015	0.0004	0.0022	0.0022	0.0020	0	0.0002	0.0034	0.0018	0.0024	0.0021	0.02	0.51248	D	0.01	0.92824	D	0.999	0.90584	D	0.994	0.84481	D	0.000000	0.84330	N	0.045007	0.999999	0.58761	D	2.125	0.59049	M	-1.35	0.84628	T	-2.56	0.58085	D	0.214	0.36464	0.401	0.89118	D	0.643	0.87540	D	10	0.010827363	0.00239	T	0.071651	0.71325	D	0.555	0.81659	.	.	0.720014306721	0.71754	0.778905463308139	0.77841	0.668936963184	0.59319	0.551707088947	0.46099	T	0.042996	0.69606	T	-0.0502195	0.44416	T	0.152981	0.80373	D	0.112571686506271	0.13689	T	0.939406	0.78488	D	0.2499321	0.47991	0.17590964	0.40089	0.2499321	0.47991	0.17590964	0.40088	-5.563	0.43390	T	.	.	0.362	0.60799	A	.;.;.;.;.	.;.;.;.;.	4.345615	0.66707	25.0	0.99735991279712277	0.83119	0.95819	0.66288	D	AEFDBCI	0.651400	0.62517	D	0.460384717713375	0.64795	4.742228	0.510565998122285	0.68701	5.256387	0.999999979098334	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	6.03	5.12	0.69459	4.420000	0.59592	6.029000	0.52897	-0.189000	0.09497	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.9327:0.0:0.0673	15.112	0.72036	0	0.99858	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	3344.98	33	chr11	46542503	.	C	T	3344.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.12;DP=1011;ExcessHet=0.0000;FS=3.834;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.00;ReadPosRankSum=-2.980e-01;SOR=0.921	GT:AD:DP:GQ:PL	0/1:176,128:304:99:3359,0,4346	20	0	1	0
chr11	47590239	47590239	T	C	exonic	C1QTNF4	.	nonsynonymous SNV	C1QTNF4:NM_031909:exon2:c.A572G:p.D191G,	.	.	438	1073	11	0	0	11	0.00509968	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4	T	0.673	P	0.42	B	0.006	U	1.000	D	1.5	L	-2.05	D	-0.182	T	0.503	D	0.338	3.902	19.84	4.32	1.694	2.795	13.775	0.406	0.949456277363	0.0011	0.00379393	0.0038	0.0018	0.0064	0	0.0043	0.0046	0	0.0014	0.0017335	268	154602	rs201749016	0.0037	0.0036	0.0038	0.0036	0.0067	0.0036	0.0036	0.0049	0.0043	0.0011	0.0040	0.0021	2.708e-05	0.0008	0.0067	0.0041	0.0035	0.0020	0.0031	0.0031	0.0032	0.0030	0.0054	0.0029	0.0028	0.0044	0.0041	0.0014	0.0166	0.0054	0.0014	0	0.0003	0.0034	0.0041	0.0072	0.0015	0.015	0.52492	D	0.038	0.51421	D	0.673	0.41222	P	0.42	0.45080	B	0.006078	0.32295	U	0.325222	0.999958	0.52396	D	1.95	0.52479	M	-2.05	0.85799	D	-3.81	0.71882	D	0.471	0.50688	-0.1816	0.78141	T	0.503	0.81252	D	10	0.008850932	0.00200	T	0.949456	0.99652	D	0.406	0.71869	.	.	0.61400623346	0.61089	0.5266001439403606	0.52584	.	.	0.925935864449	0.98741	D	0.420358	0.77209	T	-0.259625	0.12943	T	-0.145443	0.59645	T	0.0263482685529125	0.01454	T	.	.	.	0.5145901	0.67947	0.33953166	0.59717	0.5145901	0.67948	0.33953166	0.59717	-5.034	0.37207	T	.	.	0.085	0.10062	B	.	.	3.725956	0.53274	23.3	0.98870082143466709	0.47632	0.89913	0.50694	D	AEFDBCI	.	.	.	0.0745445472570139	0.45277	2.78698	0.118252495510014	0.45481	2.810629	0.999999999997168	0.74766	0.700653	0.57754	0	0.547309	0.14657	0	0.717052	0.78885	0	0.618803	0.45993	0	.	.	4.32	4.32	0.50899	5.723000	0.68141	5.736000	0.49547	0.560000	0.28382	1.000000	0.71638	1.000000	0.68203	0.715000	0.34611	0.0:0.0:0.0:1.0	13.775	0.62538	10	0.99061	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	0.04762	957.11	50	chr11	47590239	.	T	C	957.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.642;DP=767;ExcessHet=0.1072;FS=0.887;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=10.29;ReadPosRankSum=1.12;SOR=0.849	GT:AD:DP:GQ:PL	0/1:18,25:43:99:623,0,460	19	0	2	0
chr11	48306824	48306824	G	T	exonic	OR4S1	.	nonsynonymous SNV	OR4S1:NM_001004725:exon1:c.G602T:p.S201I,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.994	D	.	.	0.788	N	2.285	M	1.15	T	-0.726	T	0.213	T	0.847	2.273	13.56	5.02	2.497	1.032	11.315	0.227	0.0372408866825	.	.	3.295e-05	0	0	0	0	2.997e-05	0	0.0001	2.59e-05	4	154602	rs745316345	2.257e-05	2.257e-05	1.77e-05	2.75e-05	0.0003	1.61e-05	1.416e-05	6.092e-05	2.521e-05	0	4.472e-05	0	0	0	0.0003	1.439e-05	0.0001	6.956e-05	1.971e-05	1.97e-05	2.569e-05	1.345e-05	0.0002	5.24e-06	2.45e-06	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.939e-05	0	0.0002	0.001	0.78490	D	0.0	0.92824	D	1.0	0.90584	D	0.994	0.82059	D	.	.	.	.	0.788349	0.29254	N	2.535	0.73915	M	1.15	0.38236	T	-5.23	0.83899	D	0.323	0.36359	-0.7264	0.59145	T	0.213	0.57454	T	9	0.37760204	0.53950	T	0.037241	0.57491	D	0.227	0.52620	0.673	0.81101	0.730320244711	0.72792	0.2331812634720309	0.23233	.	.	0.321426004171	0.13638	T	0.014724	0.12482	T	0.016994	0.53976	T	-0.0274619	0.68537	D	0.677811980247498	0.39689	D	0.813719	0.46699	T	0.55865026	0.70434	0.5953333	0.76507	0.55865026	0.70436	0.5953333	0.76508	-9.587	0.71400	D	.	.	0.352	0.56715	A	.	.	3.124230	0.42190	21.5	0.9954646571785426	0.70836	0.16339	0.19343	N	AEFGI	0.099548	0.20036	N	0.339880647965432	0.58208	3.991714	0.205656426893328	0.50161	3.211092	0.0274064145341215	0.13771	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.02	5.02	0.66742	1.350000	0.33615	.	.	0.646000	0.52725	0.012000	0.18695	0.000000	0.08366	0.345000	0.25546	0.0:0.0:0.8181:0.1819	11.315	0.48622	120	0.95183	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2161.98	33	chr11	48306824	.	G	T	2161.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.267e+00;DP=944;ExcessHet=0.0000;FS=1.968;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.43;ReadPosRankSum=0.430;SOR=0.890	GT:AD:DP:GQ:PL	0/1:83,78:161:99:2176,0,2386	20	0	1	0
chr11	56375950	56375950	A	0	exonic	OR8U1;OR8U8	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4524	653.59	237	chr11	56375950	.	A	G,*	653.59	.	AC=2,17;AF=0.048,0.405;AN=42;BaseQRankSum=5.82;DP=5436;ExcessHet=36.0830;FS=3.202;InbreedingCoeff=-0.8261;MLEAC=2,17;MLEAF=0.048,0.405;MQ=60.00;MQRankSum=0.00;QD=0.13;ReadPosRankSum=-1.131e+00;SOR=1.028	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:222,31,29:282:99:0|1:56375950_A_G:882,0,9139,150,8260,9536:56375950	2	0	2	0
chr11	56375951	56375951	T	0	exonic	OR8U1;OR8U8	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.475	440.62	237	chr11	56375951	.	T	G,*	440.62	.	AC=3,16;AF=0.075,0.400;AN=40;BaseQRankSum=3.55;DP=5427;ExcessHet=36.0830;FS=3.220;InbreedingCoeff=-0.8667;MLEAC=3,16;MLEAF=0.075,0.400;MQ=60.00;MQRankSum=0.00;QD=0.09;ReadPosRankSum=-1.200e+00;SOR=1.016	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:223,31,28:282:99:0|1:56375950_A_G:919,0,9179,184,8333,9528:56375950	1	0	3	1
chr11	56375953	56375953	A	0	exonic	OR8U1;OR8U8	.	.	.	.	.	429	642	47	0	404	451	0.0353118	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.475	822.68	237	chr11	56375953	.	A	T,*	822.68	.	AC=3,16;AF=0.075,0.400;AN=40;BaseQRankSum=3.15;DP=5417;ExcessHet=36.0830;FS=3.217;InbreedingCoeff=-0.8667;MLEAC=3,16;MLEAF=0.075,0.400;MQ=60.00;MQRankSum=0.00;QD=0.16;ReadPosRankSum=-4.650e-01;SOR=1.037	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:225,31,27:283:99:0|1:56375950_A_G:911,0,9261,215,8442,9496:56375950	1	0	3	1
chr11	57308684	57308684	C	T	exonic	TNKS1BP1	.	nonsynonymous SNV	TNKS1BP1:NM_033396:exon6:c.G4027A:p.D1343N,	.	.	425	1092	4	1	0	6	0.00273973	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.13	T	1.0	D	0.999	D	0.000	D	0.838	D	2.135	M	0.32	T	-0.271	T	0.286	T	0.219	4.037	20.7	5.08	2.359	1.068	13.982	0.200	0.0768038611178	0.0027	0.00179712	0.0019	0.0007	0.0006	0	0.0002	0.0030	0	0.0008	0.0021474	332	154602	rs148468577	0.0031	0.0031	0.0030	0.0032	0.0037	0.0030	0.0030	0.0036	0.0036	0.0007	0.0018	0.0007	0	0.0005	0.0029	0.0037	0.0026	0.0007	0.0026	0.0026	0.0027	0.0025	0.0038	0.0024	0.0023	0.0035	0.0033	0.0006	0.0559	0.0028	0.0006	0	0.0002	0	0.0038	0.0019	0.0004	0.014	0.53172	D	0.114	0.36765	T	1.0	0.90584	D	0.999	0.92359	D	0.000026	0.55875	D	0.000000	0.838304	0.35026	D	2.57	0.75187	M	0.32	0.58468	T	-2.05	0.47008	N	0.479	0.51405	-0.2707	0.75793	T	0.286	0.65763	T	10	0.0077692866	0.00176	T	0.076804	0.72618	D	0.200	0.48430	.	.	0.738566229336	0.73622	0.0827670018362022	0.08211	0.332314890103	0.35282	0.509589850903	0.40165	T	0.01195	0.10582	T	-0.426158	0.01564	T	-0.379796	0.35746	T	0.0465957004124187	0.04891	T	0.816518	0.47234	T	0.1742147	0.38213	0.13012612	0.31275	0.1742147	0.38212	0.13012612	0.31274	-7.035	0.54288	T	.	.	0.162	0.35746	B	.;.	.;.	3.881310	0.56413	23.7	0.99914930163140692	0.98309	0.79910	0.39693	D	AEFDGBCI	0.268757	0.38518	N	0.482742874289166	0.66082	4.904412	0.428582784151517	0.63354	4.567305	0.999999982402142	0.74766	0.67177	0.52595	0	0.694456	0.67091	0	0.643519	0.47002	0	0.711	0.71501	0	.	.	5.08	5.08	0.68373	1.129000	0.30994	4.041000	0.41425	0.599000	0.40250	0.001000	0.13787	1.000000	0.68203	0.852000	0.40310	0.0:1.0:0.0:0.0	13.982	0.63825	440	0.80101	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1316.98	33	chr11	57308684	.	C	T	1316.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.365;DP=821;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.66;ReadPosRankSum=2.78;SOR=0.709	GT:AD:DP:GQ:PL	0/1:53,51:104:99:1331,0,1413	20	0	1	0
chr11	61368600	61368600	C	T	exonic	TMEM138	.	nonsynonymous SNV	TMEM138:NM_001330281:exon5:c.C206T:p.A69V	Joubert syndrome 16, Autosomal recessive	YES	0	1520	2	0	0	2	0.000657462	.	.	40146	Joubert_syndrome_16	MONDO:MONDO:0013764,MedGen:C3280906,OMIM:614465,Orphanet:2318	criteria_provided,_single_submitter	Pathogenic	.	.	.	.	.	.	.	.	0.01	D	0.997	D	0.913	D	0.000	D	1.000	D	2.455	M	-2.61	D	0.767	D	0.810	D	0.883	5.394	34	5.45	2.563	6.930	18.876	0.735	0.21097730234	.	.	8.402e-06	0	0	0	0	1.522e-05	0	0	6.5e-06	1	154602	rs387907133	2.058e-06	2.736e-06	0	4.135e-06	0.0003	5.5e-07	1.5e-07	6.107e-05	2.527e-05	0	0	0	0	0	0.0003	0	1.659e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.006	0.61437	D	0.013	0.65728	D	0.997	0.70673	D	0.913	0.64886	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.455	0.71248	M	-2.61	0.89953	D	-3.29	0.65742	D	0.861	0.89465	0.767	0.93998	D	0.810	0.93572	D	10	0.86135566	0.85357	D	0.210977	0.87281	D	0.735	0.90764	0.444	0.50139	0.958932107382	0.95849	0.7767177279181255	0.77621	1.1623903717	0.79532	0.597974300385	0.52618	T	0.818276	0.95529	D	0.408887	0.90418	D	0.349562	0.90298	D	0.953355431556702	0.64006	D	0.90141	0.65732	D	0.6055836	0.72990	0.39623687	0.64270	0.59362674	0.72348	0.4525798	0.68157	-2.871	0.08857	T	0.7759658241040763	0.85646	0.272	0.62582	B	.;.	.;.	4.122257	0.61622	24.4	0.99907271624964344	0.97726	0.98378	0.82168	D	AEFBCI	0.740619	0.68481	D	0.671105703255618	0.77741	6.733181	0.59981760592093	0.74926	6.221131	0.99999999999999	0.74766	0.722319	0.85440	0	0.698795	0.70079	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.45	5.45	0.79688	7.079000	0.76510	7.179000	0.57745	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.141000	0.19983	0.0:1.0:0.0:0.0	18.876	0.92305	773	0.48803	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	1	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	453.98	40	chr11	61368600	.	C	T	453.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.18;DP=750;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.66;ReadPosRankSum=1.27;SOR=0.656	GT:AD:DP:GQ:PL	0/1:28,19:47:99:468,0,654	20	0	1	0
chr11	61490515	61490515	C	G	exonic	PPP1R32	.	nonsynonymous SNV	PPP1R32:NM_001170753:exon12:c.C1163G:p.A388G	.	.	421	1082	18	1	0	20	0.00915751	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.187	B	0.106	B	0.178	N	1.000	N	1.61	L	1.48	T	-0.950	T	0.076	T	0.145	2.584	14.60	-9.41	-1.806	-1.784	7.585	0.048	0.0103333401294	0.0012	0.00159744	0.0018	0.0002	0.0006	0	0.0012	0.0024	0.0055	0.0018	0.0017594	272	154602	rs117869943	0.0017	0.0017	0.0016	0.0018	0.0107	0.0016	0.0016	0.0086	0.0078	0.0001	0.0009	0.0065	2.519e-05	0.0009	0.0107	0.0017	0.0026	0.0016	0.0015	0.0015	0.0016	0.0014	0.0022	0.0014	0.0013	0.0019	0.0018	0.0002	0.0044	0.0009	0.0058	0.0002	0.0010	0.0204	0.0022	0.0033	0.0021	0.005	0.72154	D	0.016	0.60972	D	0.187	0.29285	B	0.08	0.31143	B	0.178328	0.03163	N	1.775110	1	0.08975	N	1.39	0.34934	L	0.91	0.48142	T	-2.0	0.62151	N	0.207	0.23380	-0.9504	0.40903	T	0.076	0.30460	T	10	0.0077874362	0.00177	T	0.010333	0.26741	T	0.048	0.13305	.	.	0.0716867268079	0.06686	0.14833292125807873	0.14755	0.140961929662	0.15898	0.210121005774	0.00817	T	0.004523	0.21924	T	-0.56008	0.00253	T	-0.582841	0.14292	T	0.0139031311812272	0.00265	T	0.665033	0.27914	T	0.11320703	0.26739	0.06446576	0.12923	0.11320703	0.26738	0.06446576	0.12923	-3.374	0.14922	T	.	.	0.120	0.26978	B	.;.;.;.;.;.	.;.;.;.;.;.	0.523970	0.08927	5.708	0.90326142009616972	0.19592	0.08499	0.14420	N	AEFDBCIJ	0.070984	0.14111	N	-1.32248648030342	0.03419	0.1526891	-1.4886658049195	0.02436	0.1120706	0.99999999986544	0.74766	0.695654	0.57023	0	0.633656	0.55848	0	0.723109	0.80598	0	0.567892	0.33627	0	.	.	4.7	-9.41	0.00518	-2.102000	0.01430	-1.231000	0.05960	-0.834000	0.02848	0.000000	0.06391	0.000000	0.08366	0.128000	0.19490	0.2093:0.143:0.0:0.6478	7.585	0.27154	708	0.56926	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	2218.98	34	chr11	61490515	.	C	G	2218.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.822e+00;DP=901;ExcessHet=0.0000;FS=2.446;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.21;ReadPosRankSum=-8.450e-01;SOR=0.885	GT:AD:DP:GQ:PL	0/1:105,93:198:99:2233,0,2705	20	0	1	0
chr11	61740531	61740531	T	C	exonic	DAGLA	.	nonsynonymous SNV	DAGLA:NM_006133:exon18:c.T1922C:p.I641T,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	D	0.948	P	0.588	P	0.000	D	1.000	D	1.5	L	1.82	T	-1.071	T	0.080	T	0.919	3.976	20.4	4.41	1.764	6.186	13.945	0.403	0.0197228382319	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	2.054e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.077	0.34095	T	0.015	0.61642	D	0.948	0.53620	P	0.588	0.50402	P	0.000000	0.84330	D	0.000000	1	0.81001	D	1.7	0.43825	L	1.82	0.25018	T	-2.3	0.51157	N	0.794	0.79022	-1.0707	0.09260	T	0.080	0.31675	T	10	0.8145296	0.80704	D	0.019723	0.42154	T	0.403	0.71636	0.74	0.87232	0.236619781664	0.23270	0.7000053541781993	0.69941	0.918852446908	0.71372	0.869591116905	0.92510	D	0.336126	0.70567	T	0.210662	0.74892	D	0.0648253	0.74565	D	0.952781975269318	0.63873	D	0.952105	0.81652	D	0.31849626	0.54512	0.2169086	0.46336	0.31849626	0.54512	0.2169086	0.46335	-9.563	0.71251	D	.	.	0.611	0.69337	P	.	.	4.584081	0.72443	25.8	0.99816410860115734	0.89973	0.98810	0.87149	D	AEFBI	0.685886	0.64774	D	0.421747977381816	0.62620	4.480836	0.433105891452527	0.63640	4.601745	0.999999987493739	0.74766	0.67177	0.52595	0	0.55458	0.17659	0	0.702456	0.68683	0	0.683762	0.67416	0	.	.	4.41	4.41	0.52588	6.166000	0.71739	6.033000	0.52942	0.651000	0.53179	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:0.0:1.0	13.945	0.63586	745	0.52414	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.5	11271.74	121	chr11	61740531	.	T	C	11271.74	.	AC=21;AF=0.500;AN=42;BaseQRankSum=-1.350e+00;DP=2360;ExcessHet=54.0936;FS=275.616;InbreedingCoeff=-1.0000;MLEAC=21;MLEAF=0.500;MQ=60.00;MQRankSum=0.00;QD=4.98;ReadPosRankSum=0.649;SOR=13.232	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:80,33:113:99:.:.:343,0,1585	0	0	21	0
chr11	64118066	64118066	A	G	exonic	FLRT1	.	nonsynonymous SNV	FLRT1:NM_001384466:exon3:c.A1799G:p.Y600C	.	.	429	1084	9	0	0	9	0.00413413	.	.	1100154	Peripheral_neuropathy	Human_Phenotype_Ontology:HP:0003157,Human_Phenotype_Ontology:HP:0003407,Human_Phenotype_Ontology:HP:0007088,Human_Phenotype_Ontology:HP:0007235,Human_Phenotype_Ontology:HP:0007355,Human_Phenotype_Ontology:HP:0009830,MONDO:MONDO:0005244,MedGen:C0031117	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0	D	1.0	D	0.999	D	0.000	D	1.000	D	2.045	M	-0.61	T	0.058	D	0.500	T	0.806	2.701	14.99	5.17	2.090	9.339	14.310	0.650	0.186029558778	0.0002	0.00119808	0.0006	0	0	0.0001	0	0.0001	0.0011	0.0041	0.0005692	88	154602	rs368223580	0.0003	0.0003	0.0002	0.0004	0.0041	0.0003	0.0003	0.0037	0.0036	5.976e-05	8.95e-05	0	2.521e-05	0	0.0024	4.499e-05	0.0004	0.0041	0.0002	0.0002	7.708e-05	0.0004	0.0056	0.0002	0.0001	0.0039	0.0034	0	0	0.0003	0	0	0	0	4.41e-05	0.0005	0.0056	0.0	0.91255	D	0.0	0.92824	D	.	.	.	.	.	.	0.000001	0.84330	D	0.000000	1	0.81001	D	.	.	.	-0.61	0.71779	T	-3.55	0.68764	D	0.89	0.88909	0.058	0.83390	D	0.500	0.81096	T	10	0.04564342	0.03660	T	0.18603	0.85849	D	0.650	0.86786	.	.	0.424235652224	0.42042	0.5862054776603112	0.58550	1.11945053067	0.78259	0.743771076202	0.73528	T	.	.	.	-0.0881733	0.38378	T	0.0997304	0.76890	D	0.0887042379611157	0.11062	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.502	0.64690	A	.	.	4.777851	0.77414	26.7	0.99670202980641043	0.78523	0.98966	0.89286	D	AEFBI	0.935498	0.93044	D	0.704146351455689	0.79905	7.177448	0.643064916505945	0.78095	6.807845	0.999999999899177	0.74766	0.62174	0.39705	0	0.588066	0.40923	0	0.491614	0.08109	1	0.567892	0.33627	0	.	.	5.17	5.17	0.70848	9.325000	0.96006	11.266000	0.91241	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.700000	0.34141	1.0:0.0:0.0:0.0	14.310	0.65963	453	0.79178	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2305.98	115	chr11	64118066	.	A	G	2305.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=4.46;DP=1928;ExcessHet=0.0000;FS=1.169;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.88;ReadPosRankSum=0.113;SOR=0.778	GT:AD:DP:GQ:PL	0/1:99,80:179:99:2320,0,2594	20	0	1	0
chr11	64559204	64559204	G	A	exonic	SLC22A11	.	nonsynonymous SNV	SLC22A11:NM_001307985:exon2:c.G463A:p.V155M	.	.	400	1116	5	1	0	7	0.0031264	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06	T	0.735	P	0.389	B	0.242	N	1.000	N	1.78	L	-1.45	T	-0.785	T	0.127	T	0.066	1.612	11.35	-1.41	-0.091	0.126	5.730	0.241	.	0.0095	0.0071885	0.0027	0.0253	0.0018	0	0	0.0004	0.0033	0.0004	0.0025873	400	154602	rs61744144	0.0012	0.0012	0.0012	0.0011	0.0292	0.0011	0.0011	0.0277	0.0270	0.0292	0.0024	3.841e-05	0	0	0.0075	0.0003	0.0032	0.0006	0.0081	0.0081	0.0085	0.0076	0.0265	0.0077	0.0075	0.0252	0.0246	0.0265	0	0.0048	0	0	0	0.0136	0.0005	0.0080	0.0004	0.057	0.44358	T	0.03	0.54159	D	0.735	0.42814	P	0.389	0.44119	B	0.242122	0.15689	N	0.609611	0.999998	0.08975	N	1.7	0.43825	L	-1.45	0.80899	T	-1.84	0.43149	N	0.133	0.19593	-0.7850	0.56019	T	0.127	0.43401	T	10	0.013583392	0.00288	T	.	.	.	0.241	0.54641	.	.	0.704826807829	0.70226	0.14205192489729493	0.14128	0.400906263114	0.41090	0.250800430775	0.03852	T	0.290556	0.68889	T	-0.516651	0.00460	T	-0.495986	0.22764	T	0.00299681258652026	0.00031	T	0.675332	0.33029	T	0.048425935	0.08439	0.08586936	0.19856	0.048425935	0.08439	0.08586936	0.19856	-4.698	0.33380	T	.	.	0.129	0.29283	B	.;.;.	.;.;.	1.123288	0.15092	11.58	0.97891146172726351	0.36669	0.06953	0.12979	N	AEFDBI	0.056852	0.10542	N	-0.659831005700315	0.17174	0.8815186	-0.863449103779512	0.12965	0.6699449	0.74977269259496	0.23341	0.497415	0.19182	0	0.59043	0.45803	0	0.491513	0.07944	0	0.613276	0.41899	0	.	.	3.37	-1.41	0.08473	-0.187000	0.09652	-0.985000	0.06699	0.617000	0.49538	0.000000	0.06391	0.000000	0.08366	0.033000	0.13494	0.235:0.3391:0.4259:0.0	5.730	0.17301	401	0.82673	Major facilitator superfamily domain|Major facilitator superfamily domain;.;Major facilitator superfamily domain|Major facilitator superfamily domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.04762	1962.11	33	chr11	64559204	.	G	A	1962.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.09;DP=851;ExcessHet=0.1072;FS=1.158;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=10.78;ReadPosRankSum=0.906;SOR=0.605	GT:AD:DP:GQ:PL	0/1:58,54:112:99:1280,0,1308	19	0	2	0
chr11	64685711	64685711	G	A	exonic	NRXN2	.	nonsynonymous SNV	NRXN2:NM_138732:exon5:c.C1015T:p.P339S	.	.	430	1091	1	0	0	1	0.000458085	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06	T	1.0	D	0.996	D	0.001	U	1.000	D	1.29	L	-0.99	T	-0.809	T	0.209	T	0.5	4.533	24.5	4.0	1.951	9.864	13.984	0.617	0.065505527295	.	.	2.471e-05	0	0	0	0	0	0	0.0002	2.59e-05	4	154602	rs778165988	1.573e-05	1.573e-05	5.445e-06	2.613e-05	0.0003	1.048e-05	8.75e-06	0.0002	0.0001	0	0	0	0	0	0	0	1.656e-05	0.0003	2.628e-05	2.626e-05	1.284e-05	4.034e-05	0.0008	8.14e-06	5.14e-06	0.0003	0.0002	0	0	0	0	0	0	0	0	0	0.0008	0.058	0.42783	T	0.003	0.76473	D	0.982	0.90584	D	0.916	0.84481	D	0.000620	0.42945	U	0.000000	1	0.81001	D	2.025	0.55430	M	-1.13	0.77719	T	-5.88	0.92736	D	0.82	0.82257	-0.8086	0.54635	T	0.209	0.56812	T	10	0.6361176	0.68791	D	0.065506	0.69598	D	0.617	0.85091	0.676	0.81398	0.443653779002	0.43985	0.8139714470820596	0.81353	0.619018765651	0.56272	0.832400798798	0.86930	D	0.480529	0.80948	T	-0.125256	0.32268	T	-0.117374	0.62017	T	0.64067667722702	0.38066	D	0.999243	0.99707	D	0.2593134	0.48984	0.43924248	0.67283	0.2593134	0.48984	0.43924248	0.67283	-14.067	0.93272	D	.	.	0.969	0.95431	P	.;.;.;.;.	.;.;.;.;.	5.567442	0.92191	32	0.9991287909559543	0.98167	0.98249	0.80922	D	AEFDGBI	0.941138	0.94402	D	0.348085830174715	0.58640	4.037353	0.403920785458783	0.61807	4.386317	0.999999998984536	0.74766	0.554377	0.28877	0	0.59043	0.45803	0	0.602189	0.34648	0	0.542086	0.14980	0	.	.	4.0	4.0	0.45673	9.998000	0.99325	11.835000	0.97647	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:1.0:0.0	13.984	0.63836	382	0.83637	Laminin G domain|Laminin G domain|Laminin G domain;.;Laminin G domain|Laminin G domain|Laminin G domain;Laminin G domain|Laminin G domain|Laminin G domain;Laminin G domain|Laminin G domain|Laminin G domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	3832.98	35	chr11	64685711	.	G	A	3832.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.56;DP=1046;ExcessHet=0.0000;FS=0.833;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.37;ReadPosRankSum=6.000e-03;SOR=0.756	GT:AD:DP:GQ:PL	0/1:184,153:337:99:3847,0,4785	20	0	1	0
chr11	64767732	64767752	GGGCCACCTCCGGGCCCACCA	-	exonic	SF1	.	nonframeshift deletion	SF1:NM_001346409:exon9:c.816_836del:p.G273_P279del	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1457651936	6.845e-07	6.84e-07	1.362e-06	0	2.521e-05	0	0	.	.	0	0	0	2.521e-05	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2906.94	34	chr11	64767731	.	GGGGCCACCTCCGGGCCCACCA	G	2906.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.636;DP=913;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=17.30;ReadPosRankSum=-5.500e-02;SOR=0.697	GT:AD:DP:GQ:PL	0/1:91,77:168:99:2921,0,3508	20	0	1	0
chr11	65172786	65172786	C	T	exonic	SPDYC	.	nonsynonymous SNV	SPDYC:NM_001008778:exon6:c.C619T:p.R207W,	.	.	412	1086	23	1	0	25	0.0113792	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.428	B	0.054	B	0.151	N	1.000	N	0.805	L	.	.	-1.086	T	0.048	T	0.441	4.315	22.6	-1.57	-0.609	0.369	9.662	0.115	.	0.0007	0.00459265	0.0044	0.0002	0.0002	0	0	0.0009	0.0066	0.0279	0.0037968	587	154602	rs149911369	0.0022	0.0022	0.0014	0.0030	0.0267	0.0021	0.0021	0.0258	0.0255	8.961e-05	0.0002	0.0006	2.519e-05	0.0001	0.0111	0.0006	0.0021	0.0267	0.0015	0.0015	0.0012	0.0019	0.0262	0.0014	0.0013	0.0224	0.0210	0.0001	0.0253	0.0009	0.0003	0	9.409e-05	0.0034	0.0009	0.0014	0.0262	0.007	0.59928	D	0.099	0.38891	T	0.428	0.35540	B	0.054	0.25828	B	0.151483	0.17953	N	0.426269	1	0.08975	N	2.14	0.59869	M	.	.	.	-5.78	0.87988	D	0.425	0.46462	-1.0856	0.06298	T	0.048	0.20315	T	9	0.0054340363	0.00120	T	.	.	.	0.115	0.32236	.	.	0.0138822411134	0.00435	0.5131026573056315	0.51232	0.605002519522	0.55411	0.463276922703	0.33760	T	0.29755	0.67014	T	-0.391484	0.02631	T	-0.314167	0.43211	T	0.133441322623025	0.15696	T	0.842916	0.51943	T	0.11537144	0.27226	0.13916165	0.33212	0.11537144	0.27225	0.13916165	0.33211	-3.978	0.23473	T	.	.	0.159	0.35140	B	.	.	2.075615	0.26395	17.10	0.99795229772460403	0.88017	0.15507	0.18946	N	AEFDBHCI	0.133055	0.25258	N	-0.794925115796787	0.13441	0.6621973	-0.86613044335967	0.12900	0.6662648	0.529622566827932	0.21165	0.65861	0.49226	0	0.547309	0.14657	0	0.725225	0.93170	0	0.613276	0.41899	0	.	.	5.5	-1.57	0.08055	0.060000	0.14220	-1.064000	0.06442	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.374000	0.26200	0.4467:0.3164:0.2369:0.0	9.662	0.39125	411	0.82069	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1903.98	33	chr11	65172786	.	C	T	1903.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.77;DP=851;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.42;ReadPosRankSum=0.034;SOR=0.706	GT:AD:DP:GQ:PL	0/1:60,72:132:99:1918,0,1467	20	0	1	0
chr11	65540371	65540371	A	C	exonic	LTBP3	.	nonsynonymous SNV	LTBP3:NM_001130144:exon23:c.T3118G:p.C1040G	Dental anomalies and short stature, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.000	D	1.000	D	4.07	H	-5.07	D	0.355	D	0.597	D	0.93	3.941	20.2	4.32	1.593	5.685	9.886	0.860	0.740182708075	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.005	0.91255	D	0.004	0.92824	D	1.0	0.90584	D	0.999	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	5.085	0.99914	H	-5.07	0.99430	D	-10.91	0.99439	D	0.961	0.97095	0.355	0.88419	D	0.597	0.85626	D	10	0.95351577	0.94698	D	0.740183	0.97918	D	0.935	0.98526	0.765	0.89293	0.977396201584	0.97714	0.9958891809602889	0.99586	.	.	0.886498093605	0.94817	D	0.948785	0.99247	D	0.56178	0.96270	D	0.569181	0.96212	D	0.999853849411011	0.99363	D	0.957004	0.99349	D	0.7999752	0.83903	0.6892865	0.81720	0.7999752	0.83905	0.6892865	0.81721	-13.701	0.93253	D	.	.	0.995	0.95479	P	.;.;.;.;.;.;.	.;.;.;.;.;.;.	5.192700	0.87098	29.1	0.97197388487973546	0.32793	0.44968	0.27435	N	ALL	0.905641	0.85741	D	0.473116888572739	0.65524	4.833583	0.415521229888911	0.62532	4.470083	1.0	0.98316	0.72623	0.87236	0	0.52208	0.09955	0	0.594344	0.31042	0	0.56214	0.19341	0	.	.	4.32	4.32	0.50899	3.821000	0.55401	11.181000	0.88313	0.639000	0.52094	1.000000	0.71638	1.000000	0.68203	0.916000	0.45140	1.0:0.0:0.0:0.0	9.886	0.40431	278	0.89047	.;EGF-like calcium-binding domain|EGF-like calcium-binding, conserved site|EGF-like domain|EGF-like calcium-binding domain|EGF-like domain;EGF-like calcium-binding domain|EGF-like calcium-binding, conserved site|EGF-like domain|EGF-like calcium-binding domain|EGF-like domain;EGF-like calcium-binding domain|EGF-like calcium-binding, conserved site|EGF-like domain|EGF-like calcium-binding domain|EGF-like domain;EGF-like calcium-binding domain|EGF-like calcium-binding, conserved site|EGF-like domain|EGF-like calcium-binding domain|EGF-like domain;EGF-like calcium-binding domain|EGF-like calcium-binding, conserved site|EGF-like domain|EGF-like calcium-binding domain|EGF-like domain;EGF-like calcium-binding domain|EGF-like calcium-binding, conserved site|EGF-like domain|EGF-like calcium-binding domain|EGF-like domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2601.98	67	chr11	65540371	.	A	C	2601.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.244e+00;DP=1041;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.79;ReadPosRankSum=-1.112e+00;SOR=0.665	GT:AD:DP:GQ:PL	0/1:56,99:155:99:2616,0,1312	20	0	1	0
chr11	65557857	65557857	-	CAGCAG	exonic	LTBP3	.	nonframeshift insertion	LTBP3:NM_001130144:exon1:c.102_103insCTGCTG:p.L35_G36insLL	Dental anomalies and short stature, Autosomal recessive	.	0	120	30	0	76	106	0.111111	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2619	4305.49	23	chr11	65557854	.	CCAG	C,CCAGCAGCAG,CCAGCAG	4305.49	.	AC=4,6,1;AF=0.095,0.143,0.024;AN=42;BaseQRankSum=0.216;DP=999;ExcessHet=7.7275;FS=5.450;InbreedingCoeff=-0.3548;MLEAC=4,6,1;MLEAF=0.095,0.143,0.024;MQ=60.00;MQRankSum=0.00;QD=11.54;ReadPosRankSum=-5.530e-01;SOR=0.468	GT:AD:DP:GQ:PL	0/2:10,0,4,2:16:81:137,165,550,0,392,388,81,459,302,446	10	0	4	0
chr11	65557857	65557857	-	CAG	exonic	LTBP3	.	nonframeshift insertion	LTBP3:NM_001130144:exon1:c.102_103insCTG:p.L35_G36insL	Dental anomalies and short stature, Autosomal recessive	.	0	120	30	0	76	106	0.111111	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2619	4305.49	23	chr11	65557854	.	CCAG	C,CCAGCAGCAG,CCAGCAG	4305.49	.	AC=4,6,1;AF=0.095,0.143,0.024;AN=42;BaseQRankSum=0.216;DP=999;ExcessHet=7.7275;FS=5.450;InbreedingCoeff=-0.3548;MLEAC=4,6,1;MLEAF=0.095,0.143,0.024;MQ=60.00;MQRankSum=0.00;QD=11.54;ReadPosRankSum=-5.530e-01;SOR=0.468	GT:AD:DP:GQ:PL	0/2:10,0,4,2:16:81:137,165,550,0,392,388,81,459,302,446	10	0	4	0
chr11	66863811	66863811	C	T	exonic	PC	.	nonsynonymous SNV	PC:NM_022172:exon10:c.G1331A:p.S444N	Pyruvate carboxylase deficiency, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.54	T	0.001	B	0.006	B	0.000	D	1.000	D	0.6	N	-1.49	T	-0.718	T	0.281	T	0.218	1.574	11.22	5.54	2.603	6.822	12.661	0.340	0.0403761480499	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.526	0.07746	T	0.513	0.10821	T	0.001	0.07471	B	0.006	0.12133	B	0.000002	0.62929	D	0.096468	0.999867	0.50061	D	0.27	0.09956	N	-1.49	0.81235	T	0.25	0.04456	N	0.597	0.61596	-0.7183	0.59546	T	0.281	0.65280	T	10	0.371042	0.53477	T	0.040376	0.59342	D	0.340	0.66202	0.353	0.35246	0.417919123248	0.41407	.	.	0.828852337507	0.67540	0.812464594841	0.83870	D	0.306455	0.67866	T	-0.0390994	0.46083	T	-0.29394	0.45361	T	0.607176721096039	0.36687	D	0.939506	0.77539	D	0.16597606	0.36904	0.18945736	0.42293	0.16597606	0.36904	0.18945736	0.42293	-5.616	0.42938	T	0.0686599878140657	0.02511	0.139	0.30370	B	.;.;.;.;.	.;.;.;.;.	2.999539	0.40076	21.1	0.94205998637530508	0.24445	0.96446	0.69180	D	AEFDGBI	0.747219	0.68934	D	-0.12521594567028	0.36297	2.09615	0.0861861627878325	0.43852	2.678501	0.999999992442072	0.74766	0.718356	0.82227	0	0.588066	0.40923	0	0.570548	0.19454	0	0.655142	0.61905	0	.	.	5.54	5.54	0.82907	5.305000	0.65541	7.502000	0.59501	0.596000	0.33519	1.000000	0.71638	1.000000	0.68203	0.985000	0.61073	0.0:0.8337:0.1663:0.0	12.661	0.56177	297	0.88113	Biotin carboxylase, C-terminal|Biotin carboxylation domain|Biotin carboxylase, C-terminal;Biotin carboxylase, C-terminal|Biotin carboxylation domain|Biotin carboxylase, C-terminal;Biotin carboxylase, C-terminal|Biotin carboxylation domain|Biotin carboxylase, C-terminal;Biotin carboxylase, C-terminal|Biotin carboxylation domain|Biotin carboxylase, C-terminal;Biotin carboxylase, C-terminal|Biotin carboxylation domain|Biotin carboxylase, C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.3	1346.63	65	chr11	66863811	.	C	T	1346.63	.	AC=12;AF=0.300;AN=40;BaseQRankSum=-4.038e+00;DP=2406;ExcessHet=9.6308;FS=147.397;InbreedingCoeff=-0.4216;MLEAC=12;MLEAF=0.300;MQ=60.00;MQRankSum=0.00;QD=0.90;ReadPosRankSum=1.76;SOR=12.613	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:120,49:175:66:.:.:66,0,1772	8	0	12	1
chr11	67043756	67043756	G	A	exonic	SYT12	.	nonsynonymous SNV	SYT12:NM_001318775:exon4:c.G395A:p.R132H	.	.	433	1088	1	0	0	1	0.000459348	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.972	D	0.525	P	0.000	D	1.000	D	0.895	L	-0.72	T	-0.445	T	0.280	T	0.745	5.256	33	5.4	2.536	7.870	16.687	0.536	.	.	0.00179712	0.0016	0	0.0003	0	0	3.003e-05	0.0011	0.0116	0.0013389	207	154602	rs550547042	0.0007	0.0007	0.0004	0.0009	0.0105	0.0006	0.0006	0.0099	0.0097	0	4.472e-05	0	2.519e-05	0	0.0005	3.597e-06	0.0007	0.0105	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	0	0	0.0081	0.082	0.33254	T	0.173	0.30143	T	0.972	0.57405	D	0.525	0.48375	P	0.000000	0.84330	D	0.000000	1	0.81001	D	2.34	0.67151	M	-0.72	0.72994	T	-1.81	0.42575	N	0.761	0.75927	-0.4449	0.70568	T	0.280	0.65170	T	10	0.010840088	0.00239	T	.	.	.	0.536	0.80545	0.668	0.80602	0.875165545415	0.87394	0.611035905961792	0.61035	0.706081825482	0.61434	0.648913025856	0.59832	T	0.087023	0.37851	T	-0.157237	0.27188	T	0.0107587	0.71030	D	0.0793683438402858	0.09906	T	0.949605	0.80601	D	0.40605652	0.61150	0.31656867	0.57636	0.40605652	0.61150	0.31656867	0.57635	-4.846	0.35123	T	.	.	0.137	0.31330	B	.;.;.	.;.;.	4.864255	0.79626	27.1	0.99949250677431822	0.99931	0.99154	0.92024	D	AEFDGBI	0.901516	0.84830	D	0.536577959007732	0.69268	5.333012	0.605135919313311	0.75312	6.288327	0.999999999999968	0.74766	0.615465	0.37627	0	0.563428	0.19063	0	0.658983	0.55881	0	0.542086	0.14980	0	.	.	5.4	5.4	0.77957	7.990000	0.87862	2.875000	0.35292	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.832000	0.39227	0.0:0.0:1.0:0.0	16.687	0.85171	148	0.94114	C2 domain|C2 domain;C2 domain|C2 domain;C2 domain|C2 domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	2793.11	34	chr11	67043756	.	G	A	2793.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.753;DP=917;ExcessHet=0.1072;FS=1.519;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=11.13;ReadPosRankSum=1.25;SOR=0.595	GT:AD:DP:GQ:PL	0/1:54,51:105:99:1201,0,1187	19	0	2	0
chr11	68120969	68120980	GGCAGCGGCAGC	-	exonic	CHKA	.	nonframeshift deletion	CHKA:NM_001277:exon1:c.198_209del:p.L67_P70del	.	.	396	1108	7	1	10	19	0.00404494	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0003	0	0.0006	0.0005	0.0008	0.0003	0	0	0.0001537	4	26028	rs745705209	0.0010	0.0008	0.0009	0.0011	0.0021	0.0009	0.0009	0.0011	0.0010	0.0007	0.0005	0.0002	0.0004	0.0014	0.0021	0.0010	0.0009	0.0004	0.0010	0.0010	0.0009	0.0010	0.0015	0.0009	0.0008	0.0012	0.0011	0.0006	0	0.0003	0.0009	0.0002	0.0011	0.0068	0.0015	0.0019	0.0006	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	689.94	33	chr11	68120968	.	GGGCAGCGGCAGC	G	689.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.313e+00;DP=795;ExcessHet=0.0000;FS=5.327;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=17.25;ReadPosRankSum=1.62;SOR=0.185	GT:AD:DP:GQ:PL	0/1:21,19:40:99:704,0,814	20	0	1	0
chr11	70354421	70354421	G	A	exonic	PPFIA1	.	nonsynonymous SNV	PPFIA1:NM_003626:exon17:c.G2284A:p.V762I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.41	T	0.214	B	0.041	B	0.088	N	0.880	N	0	N	0.88	T	-1.089	T	0.026	T	0.133	2.033	12.75	4.44	2.526	1.945	10.713	0.022	.	.	0.00319489	0.0010	0.0002	0	0.0120	0	0.0001	0.0022	0.0005	0.0009638	149	154602	rs149670968	0.0005	0.0005	0.0005	0.0005	0.0130	0.0004	0.0004	0.0121	0.0117	0.0007	8.947e-05	0	0.0130	5.62e-05	0.0007	4.407e-05	0.0006	0.0007	0.0007	0.0007	0.0005	0.0009	0.0166	0.0006	0.0005	0.0137	0.0127	0.0002	0	0	0.0003	0.0166	0	0	5.883e-05	0.0005	0.0008	0.404	0.10345	T	0.407	0.14961	T	0.214	0.30086	B	0.03	0.23986	B	0.087619	0.20524	N	0.468411	0.879842	0.28068	N	1.995	0.54099	M	0.88	0.46028	T	-0.22	0.10480	N	0.23	0.25867	-1.0889	0.05718	T	0.026	0.10954	T	10	0.0060353875	0.00136	T	.	.	.	0.022	0.04323	.	.	0.386522206555	0.38262	0.18564264721917506	0.18482	0.178067386009	0.20030	0.298734903336	0.10213	T	0.011092	0.09944	T	-0.559246	0.00256	T	-0.561815	0.16208	T	0.0105159783371084	0.00146	T	0.934307	0.75413	D	0.026859077	0.01798	0.033754386	0.02324	0.026859077	0.01798	0.033754386	0.02324	-7.232	0.56586	T	.	.	0.082	0.10400	B	.;.	.;.	3.481596	0.48618	22.6	0.9884169904547021	0.47135	0.97291	0.73831	D	AEFDBI	0.256233	0.37520	N	-0.260151491984826	0.30700	1.714277	-0.0665607170397991	0.36781	2.145014	0.44554853762262	0.20492	0.706548	0.73137	0	0.653731	0.59785	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.36	4.44	0.53164	2.015000	0.40581	6.553000	0.55917	0.676000	0.76740	0.988000	0.36536	0.999000	0.35428	0.922000	0.45779	0.147:0.0:0.853:0.0	10.713	0.45194	764	0.49969	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1579.98	35	chr11	70354421	.	G	A	1579.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.06;DP=831;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.23;ReadPosRankSum=0.458;SOR=0.727	GT:AD:DP:GQ:PL	0/1:52,59:111:99:1594,0,1272	20	0	1	0
chr11	73392409	73392409	A	G	exonic	RELT	.	nonsynonymous SNV	RELT:NM_032871:exon6:c.A566G:p.K189R	.	.	414	1107	1	0	0	1	0.000451467	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	1.0	D	0.999	D	0.000	D	1.000	D	1.73	L	-2.79	D	0.725	D	0.796	D	0.627	5.419	35	5.69	2.171	5.474	13.324	0.561	0.114735154619	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.842e-07	6.84e-07	1.362e-06	0	.	0	0	.	.	0	0	0	0	0	0	0	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.015	0.52492	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.000012	0.62929	D	0.110120	0.999888	0.50402	D	2.235	0.63160	M	-2.79	0.91019	D	-2.67	0.57110	D	0.463	0.50418	0.725	0.93480	D	0.796	0.93100	D	10	0.46824166	0.59703	T	0.114735	0.79368	D	0.561	0.82003	0.252	0.19067	0.886433381783	0.88531	0.6105623063155644	0.60988	0.484744405385	0.47379	0.71169424057	0.68838	T	0.324573	0.69537	T	0.191841	0.73133	D	0.03779	0.72783	D	0.986422061920166	0.77145	D	0.824718	0.48674	T	0.36777443	0.58420	0.31595364	0.57579	0.36777443	0.58420	0.31595364	0.57578	-7.761	0.59430	D	0.2642444947022451	0.35639	0.128	0.27222	B	.;.	.;.	4.834994	0.78885	27.0	0.99893079479549951	0.96666	0.95749	0.65991	D	AEFBCI	0.568066	0.57340	D	0.679896786591124	0.78315	6.846874	0.680285372406789	0.80883	7.399124	0.999999999999797	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.723109	0.80598	0	0.662433	0.64102	0	.	.	5.69	5.69	0.88346	5.494000	0.66624	7.901000	0.73554	0.751000	0.87719	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	1.0:0.0:0.0:0.0	13.324	0.59887	394	0.83065	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	841.98	33	chr11	73392409	.	A	G	841.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.41;DP=793;ExcessHet=0.0000;FS=1.774;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.79;ReadPosRankSum=-1.047e+00;SOR=0.899	GT:AD:DP:GQ:PL	0/1:52,34:86:99:856,0,1301	20	0	1	0
chr11	73394683	73394683	C	T	exonic	RELT	.	nonsynonymous SNV	RELT:NM_032871:exon9:c.C995T:p.A332V	.	.	412	1079	29	2	0	33	0.0150616	.	.	3185193	RELT-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.1	T	0.003	B	0.003	B	0.009	N	0.776	D	1.5	L	-1.02	T	-0.395	T	0.327	T	0.165	3.118	16.42	3.96	1.272	1.525	12.717	0.175	0.0399008955017	0.0019	0.00179712	0.0023	0.0006	0.0010	0	0.0005	0.0020	0.0034	0.0071	0.0020828	322	154602	rs12362779	0.0017	0.0017	0.0015	0.0020	0.0218	0.0017	0.0016	0.0187	0.0176	0.0004	0.0012	0.0027	2.519e-05	0.0003	0.0218	0.0013	0.0022	0.0070	0.0012	0.0012	0.0013	0.0011	0.0052	0.0011	0.0010	0.0036	0.0031	0.0003	0.0022	0.0007	0.0017	0.0002	0.0002	0.0034	0.0017	0.0019	0.0052	0.052	0.39097	T	0.148	0.32675	T	0.003	0.11197	B	0.003	0.08700	B	0.008621	0.30756	N	0.263815	0.775952	0.34208	D	1.655	0.42436	L	-1.02	0.76300	T	-1.48	0.36189	N	0.176	0.18920	-0.3948	0.72191	T	0.327	0.69538	T	10	0.0037205517	0.00069	T	0.039901	0.59071	D	0.175	0.44197	.	.	0.485705203746	0.48201	0.23113276701147592	0.23028	0.106959515568	0.12079	0.390446007252	0.23733	T	0.01866	0.15005	T	-0.406553	0.02096	T	-0.353036	0.38857	T	0.015432057305191	0.00346	T	0.692231	0.30167	T	0.09462336	0.22252	0.11955887	0.28857	0.11956615	0.28150	0.10118702	0.24215	-4.297	0.28135	T	0.07821221755293352	0.03736	0.075	0.05711	B	.;.	.;.	1.552360	0.19892	14.49	0.99620177263976495	0.75353	0.42689	0.26933	N	AEFDGBCI	0.107461	0.21410	N	-0.362300907702796	0.26824	1.466876	-0.280212426500318	0.28750	1.605442	0.999999961424238	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.696353	0.63694	0	0.635551	0.53088	0	.	.	4.87	3.96	0.45097	1.023000	0.29668	1.786000	0.28758	0.599000	0.40250	0.002000	0.15269	0.937000	0.28687	0.057000	0.15750	0.0:0.92:0.0:0.08	12.717	0.56492	393	0.83123	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	924.98	37	chr11	73394683	.	C	T	924.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.495;DP=821;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.28;ReadPosRankSum=-6.070e-01;SOR=0.662	GT:AD:DP:GQ:PL	0/1:51,39:90:99:939,0,1301	20	0	1	0
chr11	74457316	74457316	C	T	exonic	KCNE3	.	nonsynonymous SNV	KCNE3:NM_005472:exon3:c.G248A:p.R83H,	Brugada syndrome 6	.	0	1520	2	0	0	2	0.000657462	.	.	20580	Brugada_syndrome_6|not_provided|Cardiovascular_phenotype|Encephalopathy,_neonatal_severe,_with_lactic_acidosis_and_brain_abnormalities|Periodic_paralysis|not_specified|Syncope|Ventricular_fibrillation|Cardiomyopathy	MONDO:MONDO:0013145,MedGen:C2751089,OMIM:613119,Orphanet:130|MedGen:C3661900|MedGen:CN230736|MONDO:MONDO:0060562,MedGen:C4540052,OMIM:617668|Human_Phenotype_Ontology:HP:0003768,MONDO:MONDO:0016122,MedGen:C1279412,Orphanet:206976|MedGen:CN169374|Human_Phenotype_Ontology:HP:0001279,MedGen:C0039070|EFO:EFO_0004287,Human_Phenotype_Ontology:HP:0001663,Human_Phenotype_Ontology:HP:0005166,MONDO:MONDO:0000190,MedGen:C0042510|Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.05	D	0.003	B	0.003	B	0.001	N	0.518	D	1.67	L	-3.08	D	0.052	D	0.548	D	0.677	1.217	9.939	3.37	0.782	1.786	7.208	0.584	0.0346984020733	0.0051	0.000998403	0.0030	0.0010	0.0029	0	0.0029	0.0044	0	0.0005	0.0030595	473	154602	rs17215437	0.0049	0.0049	0.0050	0.0047	0.0058	0.0048	0.0047	0.0057	0.0057	0.0012	0.0027	0.0003	5.038e-05	0.0030	0.0009	0.0058	0.0045	0.0002	0.0038	0.0038	0.0041	0.0035	0.0062	0.0036	0.0034	0.0057	0.0055	0.0013	0	0.0048	0.0003	0.0002	0.0022	0	0.0062	0.0028	0	0.044	0.41096	D	0.077	0.42436	T	0.003	0.11197	B	0.003	0.08700	B	0.000953	0.40932	N	0.171732	0.51775	0.31871	D	2.215	0.62545	M	-3.08	0.92560	D	-4.39	0.77225	D	0.473	0.70878	0.052	0.83278	D	0.548	0.83417	D	10	0.012397826	0.00266	T	0.034698	0.55851	D	0.584	0.83305	.	.	0.926147321073	0.92539	0.8785517873384316	0.87822	0.153314388227	0.17299	0.572439908981	0.49023	T	0.877715	0.97412	D	-0.137141	0.30345	T	0.0313209	0.72364	D	0.0270007117914107	0.01544	T	0.711029	0.32195	T	0.49410504	0.66747	0.47591087	0.69631	0.49410504	0.66748	0.47591087	0.69632	-9.373	0.70066	D	0.5753466949753158	0.64234	0.090	0.12985	B	.;.;.	.;.;.	3.778084	0.54301	23.5	0.97865474028843114	0.36492	0.69185	0.34088	D	AEFDBI	0.252098	0.37185	N	-0.487635440452994	0.22485	1.200961	-0.400166926750244	0.24992	1.371823	0.999923799445087	0.46280	0.615465	0.37627	0	0.573888	0.26702	0	0.658983	0.55881	0	0.613276	0.41899	0	.	.	5.22	3.37	0.37692	1.997000	0.40406	1.806000	0.28922	-0.842000	0.02783	0.995000	0.38783	1.000000	0.68203	0.944000	0.48669	0.0:0.7347:0.0:0.2653	7.208	0.25095	460	0.78750	.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1372.98	33	chr11	74457316	.	C	T	1372.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.83;DP=838;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.95;ReadPosRankSum=-6.520e-01;SOR=0.735	GT:AD:DP:GQ:PL	0/1:56,50:106:99:1387,0,1395	20	0	1	0
chr11	74492211	74492211	T	A	exonic	LIPT2	.	nonsynonymous SNV	LIPT2:NM_001144869:exon2:c.A620T:p.E207V,	.	.	423	1047	49	3	0	55	0.0255933	.	.	1604921	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.04	D	0.949	P	0.514	P	0.000	D	1.000	D	2.31	M	-3.96	D	0.723	D	0.825	D	0.704	4.356	23.0	5.25	1.975	7.595	13.126	0.851	.	0.0018	0.00579073	0.0111	0	0.0049	0	0	0.0051	0.0041	0.0244	0.0021733	336	154602	rs141813641	0.0033	0.0032	0.0027	0.0040	0.0253	0.0032	0.0032	0.0244	0.0240	0.0004	0.0041	0.0149	5.596e-05	0.0003	0.0179	0.0016	0.0052	0.0253	0.0032	0.0032	0.0025	0.0040	0.0247	0.0030	0.0029	0.0211	0.0197	0.0004	0	0.0095	0.0104	0	0.0004	0.0170	0.0022	0.0057	0.0247	0.033	0.44358	D	0.034	0.52727	D	0.949	0.53761	P	0.514	0.48013	P	0.000027	0.55875	D	0.117372	1	0.81001	D	3.005	0.85968	M	-3.96	0.96208	D	-5.5	0.85844	D	0.354	0.39558	0.723	0.93464	D	0.825	0.94111	D	10	0.008795619	0.00199	T	.	.	.	0.851	0.95396	.	.	0.475741759771	0.47203	0.9365910790192148	0.93639	.	.	0.341749250889	0.16700	T	0.148517	0.48710	T	0.00168011	0.51886	T	0.248561	0.85553	D	0.0968409808715536	0.12005	T	0.839416	0.51368	T	0.42203003	0.62227	0.37563127	0.62703	0.42203003	0.62227	0.37563127	0.62703	-11.143	0.80436	D	0.2682583130442304	0.36129	0.451	0.62236	A	.	.	4.814382	0.78358	26.9	0.99324259331765385	0.59507	0.96832	0.71180	D	AEFDGBCIJ	0.885805	0.81665	D	0.584661802933608	0.72217	5.771062	0.592416165450865	0.74393	6.129732	0.999999999999988	0.74766	0.660085	0.49399	0	0.627608	0.54475	0	0.662677	0.59975	0	0.563494	0.21769	0	.	.	5.25	5.25	0.73169	7.602000	0.82038	7.790000	0.68871	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.505000	0.29129	0.0:0.0:0.0:1.0	13.126	0.58773	343	0.85802	Biotinyl protein ligase (BPL) and lipoyl protein ligase (LPL), 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	0.07143	6688.68	33	chr11	74492211	.	T	A	6688.68	.	AC=3;AF=0.071;AN=42;BaseQRankSum=-1.720e+00;DP=1161;ExcessHet=0.3300;FS=0.000;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=12.39;ReadPosRankSum=0.142;SOR=0.704	GT:AD:DP:GQ:PL	0/1:105,90:195:99:2286,0,2854	18	0	3	0
chr11	78209636	78209636	C	T	exonic	USP35	.	nonsynonymous SNV	USP35:NM_020798:exon10:c.C1781T:p.T594M,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.11	T	1.0	D	1.0	D	0.000	D	1.000	D	0.365	N	3.44	T	-0.994	T	0.032	T	0.73	3.939	20.1	4.68	2.424	7.648	17.801	0.343	0.0287823081126	.	.	0.0003	0	0	0	0	0.0001	0.0011	0.0015	0.0002329	36	154602	rs769630717	0.0002	0.0002	8.984e-05	0.0002	0.0018	0.0001	0.0001	0.0015	0.0015	2.987e-05	0	0	0	0	0.0003	5.306e-05	0.0002	0.0018	8.54e-05	8.532e-05	8.998e-05	8.061e-05	0.0012	4.956e-05	3.962e-05	0.0005	0.0004	2.406e-05	0	0	0	0	0	0	8.827e-05	0	0.0012	0.062	0.78490	T	0.068	0.53426	T	1.0	0.90584	D	1.0	0.97372	D	0.000008	0.62929	D	0.000000	0.999981	0.58761	D	0.935	0.23595	L	3.44	0.05375	T	-3.39	0.67241	D	0.759	0.80669	-0.9937	0.31643	T	0.032	0.13723	T	10	0.15129617	0.28601	T	0.028782	0.51400	D	0.343	0.66488	.	.	0.237489013734	0.23353	0.4805198251530313	0.47971	0.0848486221494	0.09587	0.705834507942	0.67989	T	0.024438	0.18465	T	-0.272881	0.11438	T	-0.177981	0.56708	T	0.142700085373862	0.16505	T	0.970503	0.95244	D	0.6596823	0.75882	0.4414503	0.67429	0.6596823	0.75883	0.4414503	0.67429	-8.234	0.62654	D	.	.	0.502	0.64672	A	.;.;.	.;.;.	4.272595	0.65018	24.8	0.99627311879662028	0.75837	0.99320	0.94451	D	AEFBI	0.876743	0.80093	D	0.56016342013135	0.70704	5.540642	0.586686086769479	0.73985	6.060717	0.999999999994603	0.74766	0.651	0.46895	0	0.708844	0.79440	0	0.643519	0.47002	0	0.636168	0.56350	0	.	.	4.68	4.68	0.58319	7.903000	0.86133	4.600000	0.43993	0.547000	0.25779	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:1.0:0.0:0.0	17.801	0.88496	617	0.66297	Peptidase C19, ubiquitin carboxyl-terminal hydrolase|Ubiquitin specific protease domain;Peptidase C19, ubiquitin carboxyl-terminal hydrolase|Ubiquitin specific protease domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1612.98	81	chr11	78209636	.	C	T	1612.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.092;DP=978;ExcessHet=0.0000;FS=4.278;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.70;ReadPosRankSum=-5.860e-01;SOR=1.077	GT:AD:DP:GQ:PL	0/1:62,65:127:99:1627,0,1520	20	0	1	0
chr11	78478659	78478659	T	C	exonic	NARS2	.	nonsynonymous SNV	NARS2:NM_001243251:exon8:c.A166G:p.T56A	Combined oxidative phosphorylation deficiency 24, Autosomal recessive	.	429	1091	2	0	0	2	0.000915751	.	.	1017531	not_provided|Inborn_genetic_diseases|Combined_oxidative_phosphorylation_defect_type_24	MedGen:C3661900|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0014547,MedGen:C4015643,OMIM:616239,Orphanet:444458	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.23	T	0.001	B	0.004	B	0.004	N	1.000	N	0.04	N	-1.18	T	-0.997	T	0.162	T	0.116	0.774	8.091	-0.179	-0.110	-0.061	4.066	0.104	0.0076364337769	.	0.000199681	7.434e-05	0.0002	0.0002	0	0	7.508e-05	0	0	7.12e-05	11	154602	rs549442380	7.127e-05	7.251e-05	7.639e-05	6.611e-05	0.0026	5.991e-05	5.598e-05	0.0016	0.0013	0.0007	0.0004	0	0	0	0.0026	3.062e-05	0.0002	1.162e-05	9.849e-05	9.843e-05	8.994e-05	0.0001	0.0004	6.002e-05	4.876e-05	0.0002	0.0001	9.621e-05	0	0.0004	0	0	0	0.0068	2.94e-05	0.0005	0	0.224	0.20456	T	0.123	0.35970	T	0.001	0.07471	B	0.004	0.10090	B	0.004445	0.33730	N	0.365752	1	0.08975	N	0.105	0.08473	N	-1.18	0.78314	T	-0.73	0.20576	N	0.127	0.14338	-0.9967	0.30838	T	0.162	0.49748	T	10	0.059057087	0.07041	T	0.007636	0.20272	T	0.104	0.29647	0.472	0.54699	0.573952904867	0.57062	0.3578460179662975	0.35698	0.0451981001597	0.04896	0.333922684193	0.15525	T	0.322036	0.69308	T	-0.387643	0.02786	T	-0.472632	0.25232	T	0.0144072035327554	0.00290	T	0.70293	0.31283	T	0.055911887	0.10929	0.040063165	0.04243	0.055911887	0.10928	0.040063165	0.04243	-4.338	0.28706	T	0.12112190150960378	0.11462	0.087	0.11366	B	.;.	.;.	0.402204	0.07734	4.414	0.884172053392282	0.17960	0.01300	0.04516	N	AEFBI	0.049038	0.08432	N	-0.984353019853723	0.08937	0.4210054	-0.940499798928317	0.11144	0.5659441	0.00158615547147171	0.08668	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	5.25	-0.179	0.12647	0.048000	0.13962	-0.496000	0.08830	0.665000	0.62972	0.002000	0.15269	0.000000	0.08366	0.959000	0.51448	0.155:0.1839:0.0:0.6611	4.066	0.09336	677	0.60274	Aminoacyl-tRNA synthetase, class II (D/K/N)|Aminoacyl-tRNA synthetase, class II;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1112.98	35	chr11	78478659	.	T	C	1112.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.025e+00;DP=798;ExcessHet=0.0000;FS=0.753;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.36;ReadPosRankSum=-8.870e-01;SOR=0.606	GT:AD:DP:GQ:PL	0/1:42,56:98:99:1127,0,936	20	0	1	0
chr11	94618061	94618061	G	C	exonic	PIWIL4	.	nonsynonymous SNV	PIWIL4:NM_152431:exon17:c.G2122C:p.V708L,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.61	T	0.924	P	0.649	P	0.001	D	0.906	D	1.1	L	1.33	T	-1.000	T	0.090	T	0.504	2.394	13.96	4.98	1.502	4.230	10.392	0.204	0.0106759789857	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.076	0.34269	T	0.222	0.35840	T	0.924	0.51285	P	0.649	0.52426	P	0.000584	0.43095	D	0.099013	0.906029	0.36289	D	1.565	0.39561	L	1.33	0.35031	T	-1.68	0.46337	N	0.5	0.53269	-0.9999	0.29945	T	0.090	0.34436	T	10	0.60332495	0.67035	D	0.010676	0.27493	T	0.204	0.49076	0.676	0.81398	0.550418665841	0.54699	0.6398381622521458	0.63918	0.501449785389	0.48529	0.506306290627	0.39706	T	0.083303	0.37024	T	-0.0843602	0.39003	T	-0.358954	0.38173	T	0.838701367378235	0.49222	D	0.919808	0.78939	D	0.10559078	0.24966	0.147185	0.34841	0.10559078	0.24965	0.147185	0.34840	-5.331	0.40249	T	.	.	0.240	0.52459	B	.;.	.;.	2.332110	0.29874	18.26	0.99387829687996976	0.62202	0.97874	0.77779	D	AEFI	0.667277	0.63546	D	0.172925259269668	0.49901	3.185565	0.207008071808128	0.50237	3.217776	0.397544557011528	0.20101	0.553676	0.25195	0	0.588015	0.36545	0	0.618467	0.43123	0	0.620846	0.47308	0	.	.	5.89	4.98	0.65679	4.761000	0.61939	5.425000	0.48576	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.304000	0.24594	0.1517:0.0:0.8483:0.0	10.392	0.43358	793	0.45818	Piwi domain|Piwi domain|Piwi domain;Piwi domain|Piwi domain|Piwi domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.15	351.81	55	chr11	94618061	.	G	C	351.81	.	AC=6;AF=0.150;AN=40;BaseQRankSum=-1.574e+00;DP=1213;ExcessHet=1.7912;FS=147.073;InbreedingCoeff=-0.2177;MLEAC=7;MLEAF=0.175;MQ=60.00;MQRankSum=0.00;QD=1.10;ReadPosRankSum=0.407;SOR=10.626	GT:AD:DP:GQ:PL	0/1:33,17:50:27:27,0,621	14	0	6	1
chr11	96092217	96092219	TGC	-	exonic	MAML2	.	nonframeshift deletion	MAML2:NM_032427:exon2:c.1812_1814del:p.Q621del,	Mucoepidermoid salivary gland carcinoma (3)	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.9048	82727.93	103	chr11	96092210	.	TTGCTGCTGC	T,TTGCTGC	82727.93	.	AC=38,1;AF=0.905,0.024;AN=42;BaseQRankSum=-1.300e-01;DP=3240;ExcessHet=0.3300;FS=2.351;InbreedingCoeff=-0.0769;MLEAC=38,1;MLEAF=0.905,0.024;MQ=59.99;MQRankSum=0.00;QD=26.30;ReadPosRankSum=0.083;SOR=1.120	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,84,0:87:99:.:.:3659,258,0,3664,267,3742	0	17	3	0
chr11	102842429	102842429	A	C	splicing	MMP3	NM_002422:exon3:c.499+2T>G	.	.	.	.	.	.	.	.	.	.	.	1.0000	0.9	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.000	D	.	.	.	.	.	.	.	.	.	1.857	12.17	6.16	2.367	9.009	16.806	.	.	.	.	0.0004	0	0.0001	0	0.0064	0.0002	0	0.0002	.	.	.	.	2.086e-05	5.618e-05	1.904e-05	2.273e-05	0.0001	1.164e-05	8.96e-06	1.83e-05	7.46e-06	8.443e-05	0	9.256e-05	4.578e-05	4.403e-05	0	1.009e-05	7.556e-05	0.0001	0.0005	0.0021	0.0007	0.0003	0.0019	0.0003	0.0002	0.0003	0.0002	0.0011	0	0	0	0	0	0	0.0004	0.0086	0.0019	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.197312	0.73641	D	0.0456489	0.73297	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.839421	0.78995	27.0	0.9793394705627908	0.36978	0.99771	0.99347	D	AEBI	.	.	.	1.08370277589635	0.97821	16.83255	0.912702695708804	0.96102	14.30564	0.999999820539921	0.74766	0.06567	0.01388	0	0.059962	0.00310	0	0.060301	0.00762	0	0.075334	0.01956	0	0.959304	0.64975	6.16	6.16	0.99302	5.701000	0.67981	11.058000	0.85397	0.750000	0.87069	1.000000	0.71638	1.000000	0.68203	0.602000	0.31438	1.0:0.0:0.0:0.0	16.806	0.85530	809	0.43032	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2143	96.41	39	chr11	102842429	.	A	C	96.41	.	AC=3;AF=0.214;AN=14;BaseQRankSum=-1.559e+00;DP=794;ExcessHet=0.3300;FS=9.975;InbreedingCoeff=-0.2970;MLEAC=5;MLEAF=0.357;MQ=59.81;MQRankSum=0.00;QD=0.90;ReadPosRankSum=1.90;SOR=1.749	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:26,3:29:47:.:.:47,0,769	4	0	3	14
chr11	106010659	106010659	C	T	exonic	MSANTD4	.	nonsynonymous SNV	MSANTD4:NM_001318747:exon2:c.G259A:p.A87T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.14	T	0.002	B	0.003	B	0.000	D	0.991	D	1.5	L	.	.	-0.882	T	0.177	T	0.291	2.535	14.44	5.88	2.782	0.899	9.319	0.144	0.0031863420769	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.284	0.25457	T	0.456	0.54934	T	0.002	0.09854	B	0.003	0.08700	B	0.000011	0.62929	D	0.111292	0.991109	0.41309	D	0.55	0.14455	N	.	.	.	-1.05	0.27463	N	0.139	0.13769	-0.8825	0.49561	T	0.177	0.52240	T	9	0.14178061	0.26937	T	0.003186	0.06966	T	0.144	0.38394	0.324	0.30549	0.333651784274	0.32972	0.3745214875372276	0.37366	0.306637953789	0.32968	0.538885176182	0.44288	T	0.040073	0.25406	T	-0.0969372	0.36933	T	-0.37702	0.36071	T	0.432566970586777	0.30156	T	0.762724	0.38847	T	0.054357305	0.10418	0.07319845	0.15878	0.054357305	0.10417	0.07319845	0.15878	-3.821	0.21119	T	.	.	0.078	0.06663	B	.;.;.	.;.;.	3.124977	0.42209	21.5	0.99583064835214086	0.73099	0.90270	0.51314	D	AEFGBI	0.218300	0.34332	N	-0.0132163549372124	0.41258	2.464544	0.177121742542613	0.48595	3.073425	0.999902434550218	0.45458	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.88	5.88	0.94564	1.369000	0.33832	4.008000	0.41136	-0.176000	0.10722	1.000000	0.71638	1.000000	0.68203	0.977000	0.56843	0.145:0.7831:0.0:0.0719	9.319	0.37114	725	0.54935	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.375	5350.67	112	chr11	106010659	.	C	T,G	5350.67	.	AC=6,6;AF=0.188,0.188;AN=32;BaseQRankSum=-4.593e+00;DP=3242;ExcessHet=9.6308;FS=273.412;InbreedingCoeff=-0.5523;MLEAC=7,7;MLEAF=0.219,0.219;MQ=60.00;MQRankSum=0.00;QD=2.70;ReadPosRankSum=2.88;SOR=12.598	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:159,13,41:213:99:.:.:742,625,5665,0,5066,6457	4	0	6	5
chr11	106010659	106010659	C	G	exonic	MSANTD4	.	nonsynonymous SNV	MSANTD4:NM_001318747:exon2:c.G259C:p.A87P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	0.789	P	0.266	B	0.000	D	0.997	D	1.5	L	.	.	-0.909	T	0.128	T	0.715	2.775	15.24	5.88	2.782	0.899	9.319	0.141	0.00459803515366	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	0.0002	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	0.53172	D	0.232	0.56192	T	0.789	0.44570	P	0.266	0.39732	B	0.000011	0.62929	D	0.111292	0.997442	0.43893	D	0.895	0.22405	L	.	.	.	-1.67	0.45404	N	0.439	0.47765	-0.9091	0.46965	T	0.128	0.43524	T	9	0.3502357	0.51900	T	0.004598	0.11377	T	0.141	0.37795	0.425	0.47021	0.354822389136	0.35094	0.7275256235572604	0.72696	0.716697243913	0.62006	0.596363663673	0.52391	T	0.064719	0.32505	T	0.133721	0.67721	D	-0.0456953	0.67316	D	0.881986200809479	0.53207	D	0.772023	0.40277	T	0.39838198	0.60620	0.35209376	0.60793	0.39838198	0.60621	0.35209376	0.60792	-6.644	0.51388	T	.	.	0.505	0.65603	A	.;.;.	.;.;.	3.825878	0.55270	23.6	0.996785884463948	0.79108	0.93283	0.57804	D	AEFGBI	0.427184	0.49123	N	0.316991759729759	0.57021	3.867974	0.412391093461756	0.62335	4.447326	0.999902434550218	0.45458	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.88	5.88	0.94564	1.369000	0.33832	4.008000	0.41136	-0.176000	0.10722	1.000000	0.71638	1.000000	0.68203	0.977000	0.56843	0.145:0.7831:0.0:0.0719	9.319	0.37114	725	0.54935	.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.375	5350.67	112	chr11	106010659	.	C	T,G	5350.67	.	AC=6,6;AF=0.188,0.188;AN=32;BaseQRankSum=-4.593e+00;DP=3242;ExcessHet=9.6308;FS=273.412;InbreedingCoeff=-0.5523;MLEAC=7,7;MLEAF=0.219,0.219;MQ=60.00;MQRankSum=0.00;QD=2.70;ReadPosRankSum=2.88;SOR=12.598	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:159,13,41:213:99:.:.:742,625,5665,0,5066,6457	4	0	6	5
chr11	106010660	106010660	C	G	exonic	MSANTD4	.	nonsynonymous SNV	MSANTD4:NM_001318747:exon2:c.G258C:p.K86N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.46	T	0.001	B	0.002	B	0.001	D	0.672	N	0	N	.	.	-1.080	T	0.039	T	0.091	0.671	7.594	3.03	0.836	0.969	1.144	0.035	0.00140864098182	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.794e-06	5.338e-05	6.814e-06	2.753e-06	1.16e-05	1.99e-06	1.28e-06	1.32e-06	9.6e-07	0	0	0	0	0	0	4.502e-06	1.657e-05	1.16e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.628	0.09572	T	0.455	0.12776	T	0.001	0.07471	B	0.002	0.06944	B	0.000777	0.41888	D	0.252245	0.672182	0.30354	N	1.1	0.28011	L	.	.	.	-0.42	0.25986	N	0.046	0.01825	-1.0800	0.07349	T	0.039	0.16935	T	9	0.07250753	0.10832	T	0.001409	0.02088	T	0.035	0.08770	0.333	0.32005	0.180583059064	0.17676	0.42697714804244885	0.42614	0.368530488454	0.38403	0.557739257812	0.46948	T	0.028728	0.20742	T	-0.209044	0.19513	T	-0.538054	0.18489	T	0.29334169626236	0.24729	T	0.788921	0.43637	T	0.06988713	0.15349	0.040901218	0.04526	0.06988713	0.15349	0.040901218	0.04526	-4.897	0.35701	T	.	.	0.261	0.51359	B	.;.;.	.;.;.	2.485158	0.32052	18.93	0.96605095872499003	0.30423	0.93307	0.57867	D	AEFGBI	0.282833	0.39607	N	-0.459278369652404	0.23427	1.257956	-0.24408778769958	0.29975	1.683831	0.956715357216671	0.28262	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.88	3.03	0.34070	0.769000	0.26267	2.724000	0.34335	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.986000	0.61781	0.2344:0.4203:0.1184:0.227	1.144	0.01662	725	0.54935	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.4333	6124.11	112	chr11	106010660	.	C	G	6124.11	.	AC=13;AF=0.433;AN=30;BaseQRankSum=-2.788e+00;DP=3216;ExcessHet=11.8493;FS=276.657;InbreedingCoeff=-0.6434;MLEAC=16;MLEAF=0.533;MQ=60.00;MQRankSum=0.00;QD=2.88;ReadPosRankSum=2.98;SOR=12.670	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:159,60:219:99:0|1:106010660_C_G:951,0,4914:106010660	2	0	13	6
chr11	106010663	106010663	C	T	exonic	MSANTD4	.	nonsynonymous SNV	MSANTD4:NM_001318747:exon2:c.G255A:p.M85I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.33	T	0.002	B	0.004	B	0.000	D	0.902	D	0	N	.	.	-0.984	T	0.104	T	0.262	2.319	13.71	5.88	2.782	2.233	15.669	0.047	0.00279040284091	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.032	0.44694	D	0.465	0.47097	T	0.002	0.09854	B	0.004	0.10090	B	0.000001	0.84330	D	0.055431	0.902327	0.36202	D	-0.69	0.01958	N	.	.	.	-0.5	0.23156	N	0.133	0.12913	-0.9843	0.33998	T	0.104	0.38218	T	9	0.1143381	0.21509	T	0.00279	0.05810	T	0.047	0.12962	0.294	0.25720	0.256793551483	0.25290	0.12417175146048018	0.12343	0.345896987908	0.36490	0.592615962029	0.51864	T	0.021651	0.16823	T	-0.0923724	0.37684	T	-0.370463	0.36834	T	0.580747902393341	0.35647	D	0.831217	0.49813	T	0.22625625	0.45303	0.16779238	0.38690	0.22625625	0.45303	0.16779238	0.38689	-3.688	0.19141	T	.	.	0.249	0.48345	B	.;.;.	.;.;.	3.089872	0.41597	21.4	0.98105666193469465	0.38310	0.97626	0.75993	D	AEFGBI	0.400041	0.47508	N	-0.174858718993864	0.34183	1.948093	0.081881515894591	0.43638	2.661421	0.99999720305351	0.74766	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.88	5.88	0.94564	1.803000	0.38500	5.949000	0.51615	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.8636:0.1364:0.0	15.669	0.77014	725	0.54935	Myb/SANT-like DNA-binding domain;Myb/SANT-like DNA-binding domain;Myb/SANT-like DNA-binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.1786	2573.14	115	chr11	106010663	.	C	T,G	2573.14	.	AC=2,3;AF=0.071,0.107;AN=28;BaseQRankSum=-4.138e+00;DP=2832;ExcessHet=1.1607;FS=230.122;InbreedingCoeff=-0.2534;MLEAC=3,4;MLEAF=0.107,0.143;MQ=60.00;MQRankSum=0.00;QD=2.96;ReadPosRankSum=2.64;SOR=10.505	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:174,41,0:215:99:0|1:106010660_C_G:231,0,6625,750,6739,7489:106010660	9	0	2	7
chr11	106010663	106010663	C	G	exonic	MSANTD4	.	nonsynonymous SNV	MSANTD4:NM_001318747:exon2:c.G255C:p.M85I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.33	T	0.002	B	0.004	B	0.000	D	0.906	D	0	N	.	.	-0.988	T	0.104	T	0.262	2.196	13.30	5.88	2.782	2.233	15.669	0.043	0.0028274219259	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.032	0.44694	D	0.465	0.47097	T	0.002	0.09854	B	0.004	0.10090	B	0.000001	0.84330	D	0.055431	0.905747	0.36282	D	-0.69	0.01958	N	.	.	.	-0.5	0.23156	N	0.133	0.12913	-0.9883	0.33027	T	0.104	0.38218	T	9	0.11421201	0.21482	T	0.002827	0.05927	T	0.043	0.11576	0.294	0.25720	0.256793551483	0.25290	0.12417172391841125	0.12343	0.345896987908	0.36490	0.592615962029	0.51864	T	0.021651	0.16823	T	-0.0923564	0.37687	T	-0.37044	0.36836	T	0.580747902393341	0.35647	D	0.831217	0.49813	T	0.22625625	0.45303	0.16779238	0.38690	0.22625625	0.45303	0.16779238	0.38689	-3.688	0.19141	T	.	.	0.249	0.48345	B	.;.;.	.;.;.	3.013320	0.40302	21.1	0.9790952007803857	0.36801	0.97322	0.74021	D	AEFGBI	0.400041	0.47508	N	-0.174858718993864	0.34183	1.948093	0.081881515894591	0.43638	2.661421	0.99999720305351	0.74766	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.88	5.88	0.94564	1.803000	0.38500	5.949000	0.51615	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.8636:0.1364:0.0	15.669	0.77014	725	0.54935	Myb/SANT-like DNA-binding domain;Myb/SANT-like DNA-binding domain;Myb/SANT-like DNA-binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.1786	2573.14	115	chr11	106010663	.	C	T,G	2573.14	.	AC=2,3;AF=0.071,0.107;AN=28;BaseQRankSum=-4.138e+00;DP=2832;ExcessHet=1.1607;FS=230.122;InbreedingCoeff=-0.2534;MLEAC=3,4;MLEAF=0.107,0.143;MQ=60.00;MQRankSum=0.00;QD=2.96;ReadPosRankSum=2.64;SOR=10.505	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:174,41,0:215:99:0|1:106010660_C_G:231,0,6625,750,6739,7489:106010660	9	0	2	7
chr11	106010667	106010667	C	T	exonic	MSANTD4	.	nonsynonymous SNV	MSANTD4:NM_001318747:exon2:c.G251A:p.R84K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	T	0.0	B	0.002	B	0.002	N	0.844	D	1.1	L	.	.	-0.878	T	0.136	T	0.242	0.103	4.556	4.01	1.493	2.934	12.064	0.042	0.00259240547793	.	0.000199681	8.238e-06	0	0	0	0	0	0	6.056e-05	1.29e-05	2	154602	rs561321456	6.841e-07	6.84e-07	0	1.375e-06	1.159e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.159e-05	6.572e-06	1.313e-05	1.286e-05	0	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.218	0.19090	T	0.747	0.04860	T	0.0	0.02946	B	0.002	0.06944	B	0.002354	0.36727	N	0.299972	0.844051	0.35114	D	0.69	0.16971	N	.	.	.	-0.07	0.08495	N	0.114	0.10198	-0.8777	0.49943	T	0.136	0.45241	T	9	0.07382545	0.11204	T	0.002592	0.05235	T	0.042	0.11227	0.367	0.37524	0.274366138417	0.27033	0.40402514392590105	0.40318	0.389484333747	0.40189	0.525025010109	0.42334	T	0.028825	0.20791	T	-0.16679	0.25721	T	-0.380505	0.35662	T	0.222574869783589	0.21591	T	0.680032	0.28847	T	0.098485895	0.23231	0.10551929	0.25367	0.098485895	0.23231	0.10551929	0.25367	-3.047	0.10696	T	.	.	0.080	0.07697	B	.;.;.	.;.;.	2.801802	0.36860	20.4	0.67663913896592942	0.08422	0.86253	0.45498	D	AEFGBI	0.191163	0.31837	N	-0.163816012127879	0.34649	1.980253	0.0201264286488667	0.40651	2.429427	0.997302788968075	0.35478	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.88	4.01	0.45821	2.982000	0.49027	4.834000	0.45225	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.8616:0.0:0.1384	12.064	0.52876	725	0.54935	Myb/SANT-like DNA-binding domain;Myb/SANT-like DNA-binding domain;Myb/SANT-like DNA-binding domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	234.06	113	chr11	106010667	.	C	T	234.06	.	AC=1;AF=0.050;AN=20;BaseQRankSum=-3.220e+00;DP=2427;ExcessHet=0.0000;FS=311.086;InbreedingCoeff=-0.1831;MLEAC=2;MLEAF=0.100;MQ=60.00;MQRankSum=0.00;QD=1.10;ReadPosRankSum=2.61;SOR=7.903	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:172,41:213:99:0|1:106010660_C_G:238,0,6481:106010660	9	0	1	11
chr11	116785143	116785143	C	T	exonic	ZPR1	.	nonsynonymous SNV	ZPR1:NM_001317086:exon6:c.G547A:p.E183K	.	.	426	1086	10	0	0	10	0.00458295	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07	T	0.306	B	0.118	B	0.000	D	1.000	D	0.975	L	0.83	T	-1.007	T	0.078	T	0.435	3.676	18.68	4.84	2.663	2.668	15.309	0.073	0.00750144582853	0.0050	0.00179712	0.0045	0.0004	0.0028	0	0.0015	0.0073	0.0044	0.0008	0.0045924	710	154602	rs140390701	0.0051	0.0051	0.0052	0.0050	0.0070	0.0050	0.0049	0.0058	0.0057	0.0007	0.0039	0.0060	0	0.0017	0.0070	0.0059	0.0048	0.0011	0.0041	0.0041	0.0044	0.0038	0.0062	0.0038	0.0037	0.0057	0.0056	0.0008	0.0297	0.0056	0.0037	0	0.0009	0.0068	0.0062	0.0109	0.0008	0.069	0.35537	T	0.076	0.42614	T	0.306	0.32693	B	0.118	0.32088	B	0.000026	0.55875	D	0.186644	0.999789	0.49076	D	2.67	0.78151	M	0.83	0.47815	T	-1.85	0.43334	N	0.213	0.23758	-1.0072	0.27789	T	0.078	0.31193	T	10	0.004121095	0.00081	T	0.007501	0.19899	T	0.073	0.21317	.	.	0.717269335974	0.71478	0.3361057134011417	0.33523	0.363663983973	0.37991	0.459769666195	0.33279	T	0.190323	0.54483	T	-0.402813	0.02219	T	-0.347664	0.39473	T	0.0291355721935443	0.01858	T	0.924208	0.72277	D	0.059347272	0.12049	0.11969592	0.28890	0.059347272	0.12049	0.11969592	0.28889	-6.665	0.51546	T	.	.	0.085	0.10352	B	.	.	3.928535	0.57408	23.9	0.99810998553313435	0.89442	0.92365	0.55543	D	AEFDGBCI	0.383463	0.46496	N	0.0317747235359091	0.43304	2.62602	0.180025100460376	0.48753	3.087088	0.999999999448748	0.74766	0.706548	0.73137	0	0.697927	0.68747	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	4.84	4.84	0.62125	2.757000	0.47236	4.945000	0.46240	0.599000	0.40250	0.995000	0.38783	1.000000	0.68203	0.967000	0.53440	0.0:1.0:0.0:0.0	15.309	0.73720	523	0.74147	Zinc finger, ZPR1-type	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1558.98	34	chr11	116785143	.	C	T	1558.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.469;DP=830;ExcessHet=0.0000;FS=4.100;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.72;ReadPosRankSum=2.000e-03;SOR=1.034	GT:AD:DP:GQ:PL	0/1:71,62:133:99:1573,0,1804	20	0	1	0
chr11	116830833	116830833	C	A	exonic	APOC3	.	nonsynonymous SNV	APOC3:NM_000040:exon3:c.C116A:p.A39D,	Apolipoprotein C-III deficiency	.	1	1519	2	0	0	2	0.000657895	.	.	2720959	Cardiovascular_phenotype	MedGen:CN230736	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.01	D	1.0	D	0.997	D	0.002	N	1.000	N	.	.	-3.06	D	0.258	D	0.832	D	0.812	3.454	17.70	3.88	2.181	1.096	9.438	0.589	0.603737434016	.	.	2.529e-05	0	0	0	0	4.614e-05	0	0	1.94e-05	3	154602	rs773670132	2.601e-05	2.599e-05	2.043e-05	3.165e-05	0.0002	1.934e-05	1.693e-05	2.201e-05	1.942e-05	0	0	0	0	0	0.0002	3.058e-05	4.968e-05	0	1.314e-05	1.313e-05	2.57e-05	0	2.413e-05	2.18e-06	8.2e-07	.	.	2.413e-05	0	0	0	0	0	0	1.471e-05	0	0	0.0	0.91255	D	0.012	0.92824	D	1.0	0.90584	D	0.997	0.86255	D	0.001532	0.38731	N	0.000000	1	0.08975	N	.	.	.	-3.06	0.92457	D	-6.0	0.89534	D	0.687	0.69300	0.258	0.86869	D	0.832	0.94369	D	9	0.9096153	0.90326	D	0.603737	0.96519	D	0.589	0.83582	.	.	0.937825855988	0.93718	0.8984950820744014	0.89821	0.565440799471	0.52883	0.486506074667	0.36955	T	0.910746	0.98317	D	0.191584	0.73109	D	0.167872	0.81282	D	0.973136305809021	0.69973	D	0.679332	0.29593	T	0.81188166	0.84678	0.7385542	0.84547	0.81188166	0.84679	0.7385542	0.84548	-14.318	0.94044	D	0.9155820584142516	0.96208	0.959	0.91221	P	.;.;.;.	.;.;.;.	4.109477	0.61334	24.3	0.99567787584632395	0.72197	0.40276	0.26401	N	AEFDBCI	0.766416	0.70260	D	0.183464755812852	0.50406	3.230816	0.0534352932160963	0.42239	2.551349	0.999999968701391	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.578056	0.29568	0	0.613276	0.41899	0	.	.	4.8	3.88	0.43959	1.155000	0.31311	5.762000	0.49690	0.599000	0.40250	0.530000	0.27189	1.000000	0.68203	0.095000	0.18041	0.0:0.899:0.0:0.101	9.438	0.37819	487	0.76954	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1093.98	37	chr11	116830833	.	C	A	1093.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.931;DP=874;ExcessHet=0.0000;FS=0.723;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.95;ReadPosRankSum=-5.920e-01;SOR=0.790	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:64,46:110:99:1|0:116830819_T_C:1108,0,2542:116830819	20	0	1	0
chr11	117918602	117918604	TGG	0	exonic	TMPRSS13	.	.	.	.	.	455	112	9	0	946	955	0.0386266	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7857	2892.83	147	chr11	117918602	.	TGG	T,*	2892.83	.	AC=1,33;AF=0.024,0.786;AN=42;DP=4072;ExcessHet=0.5418;FS=0.000;InbreedingCoeff=0.0735;MLEAC=1,33;MLEAF=0.024,0.786;MQ=60.00;QD=1.03;SOR=0.657	GT:AD:DP:GQ:PGT:PID:PL:PS	2|2:2,0,147:149:99:1|1:117918597_CGGGCTGGAGATGCCT_C:5865,5871,5914,409,452,0:117918597	1	0	0	0
chr11	117918605	117918618	AGATGCCTGGGCTG	0	exonic	TMPRSS13	.	.	.	.	.	453	114	9	0	946	955	0.0379747	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7857	2883.83	147	chr11	117918605	.	AGATGCCTGGGCTG	A,*	2883.83	.	AC=1,33;AF=0.024,0.786;AN=42;DP=4040;ExcessHet=0.5418;FS=0.000;InbreedingCoeff=0.0735;MLEAC=1,33;MLEAF=0.024,0.786;MQ=59.94;QD=1.03;SOR=0.656	GT:AD:DP:GQ:PGT:PID:PL:PS	2|2:0,0,147:149:99:1|1:117918597_CGGGCTGGAGATGCCT_C:6380,6371,7006,454,583,0:117918597	1	0	0	0
chr11	119335693	119335693	A	G	exonic	RNF26	.	nonsynonymous SNV	RNF26:NM_032015:exon1:c.A571G:p.I191V,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.51	T	0.0	B	0.001	B	0.010	N	0.629	D	0.84	L	-1.1	T	-0.893	T	0.190	T	0.137	0.921	8.751	2.61	1.939	1.040	0.490	0.143	0.00914565651415	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.368e-06	1.368e-06	1.361e-06	1.375e-06	0.0002	2.3e-07	9e-08	.	.	0	0	0	0	0	0.0002	0	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.568	0.06223	T	1.0	0.01155	T	0.0	0.02946	B	0.001	0.04355	B	0.010190	0.30029	N	0.255679	0.629074	0.32773	D	1.735	0.44892	L	-1.1	0.77336	T	-0.27	0.11366	N	0.057	0.02861	-0.8927	0.48696	T	0.190	0.54138	T	10	0.057011902	0.06483	T	0.009146	0.24059	T	0.143	0.38195	0.298	0.26362	0.375384844437	0.37152	0.28510811625386107	0.28423	0.313180073728	0.33613	0.496312081814	0.38314	T	0.04591	0.27267	T	-0.122134	0.32777	T	-0.413213	0.31855	T	0.0825298940835757	0.10308	T	0.644935	0.25655	T	0.021195082	0.00709	0.032137856	0.01904	0.021195082	0.00709	0.032137856	0.01903	-1.711	0.02258	T	.	.	0.084	0.09627	B	.	.	1.299546	0.17012	12.90	0.94539780467601386	0.25045	0.57719	0.30451	D	AEFDBHCI	0.122839	0.23817	N	-0.34379406411768	0.27502	1.509342	-0.16709358692687	0.32754	1.866728	0.999999473366603	0.74766	0.722319	0.85440	0	0.685571	0.66316	0	0.685571	0.62057	0	0.735409	0.98432	0	.	.	5.12	2.61	0.30255	1.095000	0.30575	3.980000	0.40897	0.751000	0.87719	0.994000	0.38300	1.000000	0.68203	0.996000	0.76049	0.4341:0.216:0.1432:0.2066	0.490	0.00525	739	0.53257	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2708.98	39	chr11	119335693	.	A	G	2708.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.089e+00;DP=1008;ExcessHet=0.0000;FS=3.898;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.37;ReadPosRankSum=-6.420e-01;SOR=0.484	GT:AD:DP:GQ:PL	0/1:106,113:219:99:2723,0,2854	20	0	1	0
chr11	125917088	125917088	G	A	exonic	DDX25	.	nonsynonymous SNV	DDX25:NM_001330438:exon9:c.G533A:p.R178Q	.	.	422	1099	1	0	0	1	0.000454752	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	1.0	D	0.992	D	0.000	D	1.000	D	0.38	N	3.55	T	-1.011	T	0.029	T	0.663	3.193	16.69	5.79	2.735	3.670	19.637	0.185	0.00748100021423	7.9e-05	0.000199681	0.0001	0	0	0.0002	0.0002	0.0001	0	0.0002	7.12e-05	11	154602	rs375780207	5.349e-05	5.404e-05	5.181e-05	5.519e-05	0.0007	4.355e-05	4.027e-05	0.0005	0.0004	0	2.258e-05	0	0.0007	0.0002	0	3.151e-05	3.317e-05	1.179e-05	8.537e-05	8.531e-05	6.426e-05	0.0001	0.0008	4.954e-05	3.96e-05	0.0003	0.0002	2.406e-05	0	0	0	0.0008	0	0.0034	8.82e-05	0	0.0002	0.184	0.21634	T	0.324	0.20877	T	1.0	0.90584	D	0.992	0.80445	D	0.000240	0.47286	D	0.092334	0.999831	0.49637	D	0.625	0.15840	N	3.55	0.04746	T	-0.49	0.15578	N	0.208	0.23125	-1.0112	0.26541	T	0.029	0.12365	T	10	0.11205399	0.21004	T	0.007481	0.19846	T	0.185	0.45933	.	.	0.49741755877	0.49376	0.42170353039472497	0.42086	0.246208666148	0.27154	0.449881732464	0.31927	T	0.13072	0.45978	T	-0.264617	0.12364	T	-0.324393	0.42091	T	0.131072959694245	0.15481	T	0.938406	0.76842	D	0.07606169	0.17176	0.091232	0.21439	0.07606169	0.17176	0.091232	0.21438	-5.862	0.48341	T	.	.	0.112	0.21877	B	.;.;.	.;.;.	3.636922	0.51552	23.1	0.9928537753336778	0.58078	0.94319	0.60787	D	AEFDGBI	0.683373	0.64608	D	0.546283431786935	0.69855	5.416849	0.599924396788693	0.74934	6.222509	0.999999999808445	0.74766	0.706548	0.73137	0	0.563428	0.19063	0	0.724815	0.87919	0	0.530356	0.10902	0	.	.	5.79	5.79	0.91751	3.753000	0.54896	7.523000	0.59793	0.676000	0.76740	0.992000	0.37556	1.000000	0.68203	0.967000	0.53440	0.0:0.0:1.0:0.0	19.637	0.95731	821	0.40814	.;Helicase superfamily 1/2, ATP-binding domain|Helicase superfamily 1/2, ATP-binding domain;Helicase superfamily 1/2, ATP-binding domain|Helicase superfamily 1/2, ATP-binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1326.98	34	chr11	125917088	.	G	A	1326.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.784;DP=820;ExcessHet=0.0000;FS=4.375;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.53;ReadPosRankSum=0.764;SOR=1.145	GT:AD:DP:GQ:PL	0/1:70,56:126:99:1341,0,1664	20	0	1	0
chr12	4591261	4591261	G	C	exonic	DYRK4	.	nonsynonymous SNV	DYRK4:NM_003845:exon3:c.G81C:p.K27N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.34	T	0.418	B	0.122	B	0.121	N	1.000	N	1.7	L	-0.07	T	-0.998	T	0.134	T	0.063	0.770	8.072	-2.7	-0.238	-0.480	5.450	0.029	0.0114393036777	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.479e-06	0.0002	5.452e-06	5.506e-06	1.16e-05	2.36e-06	1.7e-06	2.62e-06	1.69e-06	0	0	0	0	0	0	6.303e-06	0	1.16e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.314	0.13834	T	0.401	0.14961	T	0.346	0.33564	B	0.084	0.29270	B	0.121393	0.18998	N	0.456574	1	0.08975	N	1.725	0.44537	L	-0.08	0.63911	T	0.73	0.02068	N	0.144	0.14480	-0.9982	0.30423	T	0.134	0.44720	T	10	0.07988778	0.12903	T	0.011439	0.29067	T	0.029	0.06676	0.269	0.21735	0.558735321446	0.55534	0.18653166389102285	0.18571	0.09495456672	0.10722	0.417934507132	0.27553	T	9.22E-4	0.00478	T	-0.259265	0.12987	T	-0.610193	0.11969	T	0.123014807701111	0.14722	T	0.59544	0.22079	T	0.04078166	0.05886	0.040100157	0.04256	0.04078166	0.05886	0.040100157	0.04256	-4.202	0.26780	T	.	.	0.104	0.18869	B	.;.;.	.;.;.	0.165782	0.05554	2.014	0.79475724993608643	0.12759	0.01358	0.04650	N	AEFDBI	0.066344	0.12987	N	-1.06848562840135	0.07230	0.3352268	-1.19599880480459	0.05976	0.2863112	2.00585938924982E-4	0.05898	0.553676	0.25195	0	0.588015	0.36545	0	0.618467	0.43123	0	0.542086	0.14980	0	.	.	4.34	-2.7	0.05651	-0.445000	0.06918	0.067000	0.14209	-0.678000	0.04252	0.001000	0.13787	0.000000	0.08366	0.446000	0.27806	0.499:0.1481:0.3529:0.0	5.450	0.15851	834	0.38640	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.4286	4735.5	83	chr12	4591261	.	G	C	4735.5	.	AC=18;AF=0.429;AN=42;BaseQRankSum=-2.041e+00;DP=1832;ExcessHet=30.0624;FS=292.214;InbreedingCoeff=-0.7498;MLEAC=18;MLEAF=0.429;MQ=60.00;MQRankSum=0.00;QD=3.39;ReadPosRankSum=0.900;SOR=12.945	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:69,28:106:99:.:.:316,0,1272	3	0	18	0
chr12	6667913	6667918	TGCTGC	-	exonic	ZNF384	.	nonframeshift deletion	ZNF384:NM_001039920:exon9:c.1182_1187del:p.Q399_Q400del	.	.	411	104	0	1	1006	1008	0.00952381	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5238	43890.69	50	chr12	6667903	.	TTGCTGCTGCTGCTGC	TTGCTGCTGC,TTGCTGCTGCTGC,TTGCTGCTGCTGCTGCTGC,T	43890.69	.	AC=13,22,2,1;AF=0.310,0.524,0.048,0.024;AN=42;BaseQRankSum=1.09;DP=2315;ExcessHet=0.6776;FS=4.482;InbreedingCoeff=-0.1053;MLEAC=12,23,2,1;MLEAF=0.286,0.548,0.048,0.024;MQ=60.00;MQRankSum=0.00;QD=33.00;ReadPosRankSum=-6.500e-02;SOR=0.494	GT:AD:DP:GQ:PL	0/2:26,5,33,0,0:64:99:1202,1092,2375,0,848,883,1294,2267,1026,2426,1294,2267,1026,2426,2426	0	0	0	0
chr12	6667916	6667918	TGC	-	exonic	ZNF384	.	nonframeshift deletion	ZNF384:NM_001039920:exon9:c.1182_1184del:p.Q400del	.	.	411	104	0	1	1006	1008	0.00952381	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5238	43890.69	50	chr12	6667903	.	TTGCTGCTGCTGCTGC	TTGCTGCTGC,TTGCTGCTGCTGC,TTGCTGCTGCTGCTGCTGC,T	43890.69	.	AC=13,22,2,1;AF=0.310,0.524,0.048,0.024;AN=42;BaseQRankSum=1.09;DP=2315;ExcessHet=0.6776;FS=4.482;InbreedingCoeff=-0.1053;MLEAC=12,23,2,1;MLEAF=0.286,0.548,0.048,0.024;MQ=60.00;MQRankSum=0.00;QD=33.00;ReadPosRankSum=-6.500e-02;SOR=0.494	GT:AD:DP:GQ:PL	0/2:26,5,33,0,0:64:99:1202,1092,2375,0,848,883,1294,2267,1026,2426,1294,2267,1026,2426,2426	0	0	0	0
chr12	6667918	6667918	-	TGC	exonic	ZNF384	.	nonframeshift insertion	ZNF384:NM_001039920:exon9:c.1181_1182insGCA:p.Q400_P401insQ	.	.	411	104	0	1	1006	1008	0.00952381	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5238	43890.69	50	chr12	6667903	.	TTGCTGCTGCTGCTGC	TTGCTGCTGC,TTGCTGCTGCTGC,TTGCTGCTGCTGCTGCTGC,T	43890.69	.	AC=13,22,2,1;AF=0.310,0.524,0.048,0.024;AN=42;BaseQRankSum=1.09;DP=2315;ExcessHet=0.6776;FS=4.482;InbreedingCoeff=-0.1053;MLEAC=12,23,2,1;MLEAF=0.286,0.548,0.048,0.024;MQ=60.00;MQRankSum=0.00;QD=33.00;ReadPosRankSum=-6.500e-02;SOR=0.494	GT:AD:DP:GQ:PL	0/2:26,5,33,0,0:64:99:1202,1092,2375,0,848,883,1294,2267,1026,2426,1294,2267,1026,2426,2426	0	0	0	0
chr12	6667904	6667918	TGCTGCTGCTGCTGC	-	exonic	ZNF384	.	nonframeshift deletion	ZNF384:NM_001039920:exon9:c.1182_1196del:p.Q396_Q400del	.	.	411	104	0	1	1006	1008	0.00952381	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1169898408	0.0003	0.0004	0.0003	0.0004	0.0008	0.0003	0.0003	0.0006	0.0006	0.0004	0.0003	3.944e-05	0.0002	0	0.0004	0.0003	0.0004	0.0008	0.0002	0.0002	0.0002	0.0002	0.0013	0.0002	0.0001	0.0006	0.0004	0.0002	0	0	0	0	0	0.0035	0.0003	0	0.0013	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5238	43890.69	50	chr12	6667903	.	TTGCTGCTGCTGCTGC	TTGCTGCTGC,TTGCTGCTGCTGC,TTGCTGCTGCTGCTGCTGC,T	43890.69	.	AC=13,22,2,1;AF=0.310,0.524,0.048,0.024;AN=42;BaseQRankSum=1.09;DP=2315;ExcessHet=0.6776;FS=4.482;InbreedingCoeff=-0.1053;MLEAC=12,23,2,1;MLEAF=0.286,0.548,0.048,0.024;MQ=60.00;MQRankSum=0.00;QD=33.00;ReadPosRankSum=-6.500e-02;SOR=0.494	GT:AD:DP:GQ:PL	0/2:26,5,33,0,0:64:99:1202,1092,2375,0,848,883,1294,2267,1026,2426,1294,2267,1026,2426,2426	0	0	0	0
chr12	6936749	6936749	-	CAG	exonic	ATN1	.	nonframeshift insertion	ATN1:NM_001007026:exon5:c.1482_1483insCAG:p.Q502_H503insQ	Dentatorubro-pallidoluysian atrophy, Autosomal dominant	.	129	452	137	68	736	1009	0.231946	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5952	35287.3	42	chr12	6936728	.	ACAGCAGCAGCAGCAGCAGCAG	ACAGCAGCAGCAGCAGCAGCAGCAG,ACAGCAGCAGCAGCAGCAGCAGCAGCAG,A,ACAGCAGCAGCAGCAGCAG,ACAGCAGCAGCAGCAGCAGCAGCAGCAGCAG,ACAGCAGCAGCAG	35287.3	.	AC=4,3,14,3,3,5;AF=0.095,0.071,0.333,0.071,0.071,0.119;AN=42;BaseQRankSum=0.252;DP=1830;ExcessHet=1.5138;FS=0.000;InbreedingCoeff=-0.0500;MLEAC=4,3,14,3,3,5;MLEAF=0.095,0.071,0.333,0.071,0.071,0.119;MQ=59.99;MQRankSum=0.00;QD=30.63;ReadPosRankSum=-6.930e-01;SOR=0.654	GT:AD:DP:GQ:PGT:PID:PL:PS	3/3:0,0,0,73,0,0,0:73:99:.:.:3253,3253,3253,3253,3253,3253,222,222,222,0,3253,3253,3253,222,3253,3253,3253,3253,222,3253,3253,3253,3253,3253,222,3253,3253,3253	1	0	2	0
chr12	6936749	6936749	-	CAGCAG	exonic	ATN1	.	nonframeshift insertion	ATN1:NM_001007026:exon5:c.1482_1483insCAGCAG:p.Q502_H503insQQ	Dentatorubro-pallidoluysian atrophy, Autosomal dominant	.	129	452	137	68	736	1009	0.231946	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5952	35287.3	42	chr12	6936728	.	ACAGCAGCAGCAGCAGCAGCAG	ACAGCAGCAGCAGCAGCAGCAGCAG,ACAGCAGCAGCAGCAGCAGCAGCAGCAG,A,ACAGCAGCAGCAGCAGCAG,ACAGCAGCAGCAGCAGCAGCAGCAGCAGCAG,ACAGCAGCAGCAG	35287.3	.	AC=4,3,14,3,3,5;AF=0.095,0.071,0.333,0.071,0.071,0.119;AN=42;BaseQRankSum=0.252;DP=1830;ExcessHet=1.5138;FS=0.000;InbreedingCoeff=-0.0500;MLEAC=4,3,14,3,3,5;MLEAF=0.095,0.071,0.333,0.071,0.071,0.119;MQ=59.99;MQRankSum=0.00;QD=30.63;ReadPosRankSum=-6.930e-01;SOR=0.654	GT:AD:DP:GQ:PGT:PID:PL:PS	3/3:0,0,0,73,0,0,0:73:99:.:.:3253,3253,3253,3253,3253,3253,222,222,222,0,3253,3253,3253,222,3253,3253,3253,3253,222,3253,3253,3253,3253,3253,222,3253,3253,3253	1	0	2	0
chr12	6936747	6936749	CAG	-	exonic	ATN1	.	nonframeshift deletion	ATN1:NM_001007026:exon5:c.1480_1482del:p.Q502del	Dentatorubro-pallidoluysian atrophy, Autosomal dominant	.	129	452	137	68	736	1009	0.231946	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5952	35287.3	42	chr12	6936728	.	ACAGCAGCAGCAGCAGCAGCAG	ACAGCAGCAGCAGCAGCAGCAGCAG,ACAGCAGCAGCAGCAGCAGCAGCAGCAG,A,ACAGCAGCAGCAGCAGCAG,ACAGCAGCAGCAGCAGCAGCAGCAGCAGCAG,ACAGCAGCAGCAG	35287.3	.	AC=4,3,14,3,3,5;AF=0.095,0.071,0.333,0.071,0.071,0.119;AN=42;BaseQRankSum=0.252;DP=1830;ExcessHet=1.5138;FS=0.000;InbreedingCoeff=-0.0500;MLEAC=4,3,14,3,3,5;MLEAF=0.095,0.071,0.333,0.071,0.071,0.119;MQ=59.99;MQRankSum=0.00;QD=30.63;ReadPosRankSum=-6.930e-01;SOR=0.654	GT:AD:DP:GQ:PGT:PID:PL:PS	3/3:0,0,0,73,0,0,0:73:99:.:.:3253,3253,3253,3253,3253,3253,222,222,222,0,3253,3253,3253,222,3253,3253,3253,3253,222,3253,3253,3253,3253,3253,222,3253,3253,3253	1	0	2	0
chr12	6936749	6936749	-	CAGCAGCAG	exonic	ATN1	.	nonframeshift insertion	ATN1:NM_001007026:exon5:c.1482_1483insCAGCAGCAG:p.Q502_H503insQQQ	Dentatorubro-pallidoluysian atrophy, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5952	35287.3	42	chr12	6936728	.	ACAGCAGCAGCAGCAGCAGCAG	ACAGCAGCAGCAGCAGCAGCAGCAG,ACAGCAGCAGCAGCAGCAGCAGCAGCAG,A,ACAGCAGCAGCAGCAGCAG,ACAGCAGCAGCAGCAGCAGCAGCAGCAGCAG,ACAGCAGCAGCAG	35287.3	.	AC=4,3,14,3,3,5;AF=0.095,0.071,0.333,0.071,0.071,0.119;AN=42;BaseQRankSum=0.252;DP=1830;ExcessHet=1.5138;FS=0.000;InbreedingCoeff=-0.0500;MLEAC=4,3,14,3,3,5;MLEAF=0.095,0.071,0.333,0.071,0.071,0.119;MQ=59.99;MQRankSum=0.00;QD=30.63;ReadPosRankSum=-6.930e-01;SOR=0.654	GT:AD:DP:GQ:PGT:PID:PL:PS	3/3:0,0,0,73,0,0,0:73:99:.:.:3253,3253,3253,3253,3253,3253,222,222,222,0,3253,3253,3253,222,3253,3253,3253,3253,222,3253,3253,3253,3253,3253,222,3253,3253,3253	1	0	2	0
chr12	6936741	6936749	CAGCAGCAG	-	exonic	ATN1	.	nonframeshift deletion	ATN1:NM_001007026:exon5:c.1474_1482del:p.Q500_Q502del	Dentatorubro-pallidoluysian atrophy, Autosomal dominant	.	129	452	137	68	736	1009	0.231946	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5952	35287.3	42	chr12	6936728	.	ACAGCAGCAGCAGCAGCAGCAG	ACAGCAGCAGCAGCAGCAGCAGCAG,ACAGCAGCAGCAGCAGCAGCAGCAGCAG,A,ACAGCAGCAGCAGCAGCAG,ACAGCAGCAGCAGCAGCAGCAGCAGCAGCAG,ACAGCAGCAGCAG	35287.3	.	AC=4,3,14,3,3,5;AF=0.095,0.071,0.333,0.071,0.071,0.119;AN=42;BaseQRankSum=0.252;DP=1830;ExcessHet=1.5138;FS=0.000;InbreedingCoeff=-0.0500;MLEAC=4,3,14,3,3,5;MLEAF=0.095,0.071,0.333,0.071,0.071,0.119;MQ=59.99;MQRankSum=0.00;QD=30.63;ReadPosRankSum=-6.930e-01;SOR=0.654	GT:AD:DP:GQ:PGT:PID:PL:PS	3/3:0,0,0,73,0,0,0:73:99:.:.:3253,3253,3253,3253,3253,3253,222,222,222,0,3253,3253,3253,222,3253,3253,3253,3253,222,3253,3253,3253,3253,3253,222,3253,3253,3253	1	0	2	0
chr12	10014639	10014639	T	G	exonic	CLEC12B	.	nonsynonymous SNV	CLEC12B:NM_001129998:exon3:c.T307G:p.S103A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	T	0.033	B	0.028	B	0.690	N	1.000	N	1.04	L	0.79	T	-1.003	T	0.087	T	0.094	-2.759	0	0.134	0.119	-0.149	6.077	0.009	0.00628366833023	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.401	0.17821	T	0.289	0.21078	T	0.026	0.20350	B	0.025	0.21332	B	0.689605	0.10187	N	0.843384	1	0.08975	N	1.65	0.42232	L	0.79	0.49068	T	-1.35	0.33598	N	0.122	0.11769	-1.0033	0.28963	T	0.087	0.33606	T	10	0.054082125	0.05703	T	0.006284	0.16493	T	0.009	0.00846	0.219	0.14078	0.101711395817	0.09552	0.14421905881975128	0.14344	0.0757698424566	0.08505	0.342724382877	0.16845	T	0.014942	0.12627	T	-0.305073	0.08189	T	-0.675993	0.07231	T	0.14794796705246	0.16939	T	0.254675	0.03932	T	0.099691816	0.23530	0.07498274	0.16460	0.099691816	0.23530	0.07498274	0.16460	-6.181	0.47769	T	.	.	0.075	0.05890	B	.;.	.;.	0.185512	0.05725	2.169	0.57440435773456511	0.05770	0.01745	0.05502	N	AEFBI	0.048721	0.08343	N	-1.14904548463473	0.05795	0.2651418	-1.20180128478029	0.05881	0.281498	6.27367939575547E-4	0.07482	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.52698	0.09003	0	.	.	4.13	0.134	0.14070	-0.141000	0.10308	-0.959000	0.06786	-0.293000	0.06271	0.000000	0.06391	0.000000	0.08366	0.014000	0.10232	0.0:0.5051:0.0:0.4949	6.077	0.19145	934	0.15400	.;Ly49-like, N-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1269.98	44	chr12	10014639	.	T	G	1269.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-7.200e-01;DP=836;ExcessHet=0.0000;FS=1.365;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.34;ReadPosRankSum=0.759;SOR=0.725	GT:AD:DP:GQ:PL	0/1:75,61:136:99:1284,0,1760	20	0	1	0
chr12	10930685	10930685	A	C	exonic	PRH2	.	nonsynonymous SNV	PRH2:NM_001110213:exon3:c.A124C:p.I42L,	.	.	422	1079	21	0	0	21	0.00963745	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.0	B	0.0	B	.	.	1.000	N	0.625	N	2.36	T	-0.945	T	0.018	T	0.2	-3.379	0.001	-1.81	-1.932	-0.871	3.420	0.006	0.00157848723934	.	.	0.0004	0.0021	0.0003	0.0001	0	0.0002	0.0011	0.0004	0.0017289	45	26028	rs2923234	0.0007	0.0030	0.0006	0.0007	0.0021	0.0006	0.0006	0.0017	0.0016	0.0021	0.0010	0.0011	0.0005	0.0003	0.0002	0.0005	0.0010	0.0017	0.0031	0.0054	0.0033	0.0028	0.0061	0.0028	0.0027	0.0055	0.0052	0.0061	0	0.0016	0.0033	0.0002	0.0008	0	0.0021	0.0035	0.0030	0.532	0.06980	T	0.656	0.06598	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	2.36	0.16089	T	0.05	0.06369	N	0.164	0.17278	-0.9454	0.41748	T	0.018	0.07612	T	9	0.005495906	0.00121	T	0.001578	0.02523	T	0.006	0.00375	0.223	0.14665	0.043077524339	0.03247	0.031072521489905844	0.03056	1.57927069771	0.88367	0.282763034105	0.07881	T	.	.	.	-0.343694	0.05137	T	-0.731469	0.04261	T	0.00418809267600828	0.00045	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.052	0.00297	B	.;.	.;.	-1.403301	0.00358	0.006	0.21598653107946342	0.00830	0.00037	0.00318	N	AEFGI	0.019380	0.00667	N	-2.12225054748313	0.00114	0.004894974	-2.19931340376998	0.00112	0.004941841	0.847810366629689	0.24987	0.553676	0.25195	0	0.588015	0.36545	0	0.536957	0.11973	0	0.620846	0.47308	0	.	.	0.904	-1.81	0.07456	-1.135000	0.03337	-9.997000	0.00751	-2.508000	0.00261	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2436:0.5518:0.0:0.2046	3.420	0.06962	934	0.15400	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.04762	271.11	64	chr12	10930685	.	A	C	271.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=6.11;DP=1755;ExcessHet=0.1072;FS=63.162;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=49.89;MQRankSum=-5.021e+00;QD=0.96;ReadPosRankSum=0.656;SOR=6.220	GT:AD:DP:GQ:PL	0/1:125,13:138:99:111,0,3555	19	0	2	0
chr12	10930916	10930916	C	T	exonic	PRH2	.	nonsynonymous SNV	PRH2:NM_001110213:exon3:c.C355T:p.R119C,	.	.	435	924	162	0	1	163	0.080597	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.183	B	0.001	B	0.106	U	1.000	N	1.32	L	3.6	T	-0.962	T	0.014	T	0.144	0.202	5.089	-0.205	-0.048	0.062	4.703	0.040	0.00135719490272	.	.	0.0029	0.0048	0.0017	0.0035	0.0008	0.0036	0	0.0007	0.0001921	5	26028	rs200488155	0.0017	0.0087	0.0012	0.0022	0.0033	0.0017	0.0016	0.0030	0.0029	0.0009	0.0027	0.0003	0.0013	0.0084	0.0014	0.0014	0.0014	0.0033	0.0020	0.0066	0.0021	0.0020	0.0021	0.0018	0.0018	0.0018	0.0017	0.0019	0	0.0018	0.0003	0.0021	0.0034	0	0.0021	0.0031	0.0009	0.003	0.68238	D	0.053	0.47336	T	.	.	.	.	.	.	0.105583	0.02589	U	18.770200	1	0.08975	N	.	.	.	3.6	0.04494	T	-2.67	0.57110	D	0.136	0.16447	-0.9623	0.38742	T	0.014	0.05705	T	10	0.006133795	0.00138	T	0.001357	0.01961	T	0.040	0.10527	.	.	0.043077524339	0.03247	0.42757858420159933	0.42674	2.02830112022	0.94057	0.486923903227	0.37012	T	.	.	.	-0.311255	0.07638	T	-0.684873	0.06690	T	0.0238748472601751	0.01129	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.261	0.51798	B	.;.	.;.	1.809367	0.22993	15.84	0.69557796090960189	0.09011	0.00174	0.01026	N	AEFGI	0.041418	0.06294	N	-1.24081326439534	0.04422	0.1995362	-1.38216006772386	0.03442	0.1605599	0.243600485591568	0.18599	0.553676	0.25195	0	0.588015	0.36545	0	0.602189	0.34648	0	0.620846	0.47308	0	.	.	0.865	-0.205	0.12548	0.171000	0.16497	-5.685000	0.01631	0.411000	0.20652	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.5953:0.4047:0.0	4.703	0.12216	934	0.15400	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.1667	1985.55	50	chr12	10930916	.	C	T	1985.55	.	AC=7;AF=0.167;AN=42;BaseQRankSum=1.28;DP=1409;ExcessHet=2.5830;FS=8.734;InbreedingCoeff=-0.2000;MLEAC=7;MLEAF=0.167;MQ=40.94;MQRankSum=-1.380e-01;QD=3.16;ReadPosRankSum=-4.690e-01;SOR=1.815	GT:AD:DP:GQ:PL	0/1:83,15:98:99:218,0,2432	14	0	7	0
chr12	11092088	11092088	G	0	exonic	TAS2R43	.	.	.	.	.	456	371	599	79	17	774	0.505003	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4762	5986.12	144	chr12	11092088	.	G	C,*	5986.12	.	AC=17,3;AF=0.405,0.071;AN=42;BaseQRankSum=-1.327e+00;DP=2170;ExcessHet=8.0185;FS=6.574;InbreedingCoeff=-0.3364;MLEAC=17,3;MLEAF=0.405,0.071;MQ=56.75;MQRankSum=-8.550e+00;QD=3.41;ReadPosRankSum=1.78;SOR=1.189	GT:AD:DP:GQ:PL	1/1:0,30,0:30:90:992,90,0,992,90,992	4	3	11	0
chr12	12338471	12338471	C	T	exonic	MANSC1	.	nonsynonymous SNV	MANSC1:NM_018050:exon3:c.G313A:p.A105T	.	.	428	1091	3	0	0	3	0.001373	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.994	D	0.003	N	0.973	D	1.78	L	1.9	T	-0.741	T	0.136	T	0.452	4.683	25.9	4.87	1.399	4.367	12.059	0.258	0.0517216594439	7.7e-05	.	0.0003	0	0.0002	0	0	8.991e-05	0.0022	0.0013	0.000207	32	154602	rs374905258	0.0001	0.0001	7.764e-05	0.0002	0.0013	0.0001	0.0001	0.0011	0.0011	0	4.507e-05	0	0	1.872e-05	0.0007	5.937e-05	9.941e-05	0.0013	5.908e-05	5.905e-05	2.569e-05	9.396e-05	0.0008	3.074e-05	2.208e-05	0.0003	0.0002	2.405e-05	0	0	0	0	0	0	5.879e-05	0	0.0008	0.009	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.991	0.79672	D	0.002885	0.35770	N	0.000000	0.972847	0.38978	D	2.505	0.72935	M	1.9	0.23486	T	-1.52	0.38924	N	0.598	0.69037	-0.7412	0.58391	T	0.136	0.45145	T	10	0.1603621	0.30108	T	0.051722	0.64779	D	0.258	0.56959	.	.	0.186928172975	0.18263	0.5012258424037859	0.50044	0.461961472074	0.45731	0.387817978859	0.23362	T	0.090259	0.43601	T	-0.357393	0.04279	T	-0.321525	0.42408	T	0.10678161320104	0.13087	T	.	.	.	0.12369551	0.29039	0.132531	0.31801	0.12369551	0.29039	0.132531	0.31800	-4.167	0.31019	T	.	.	0.385	0.62562	A	.;.;.	.;.;.	4.395497	0.67869	25.2	0.99929789744060382	0.99279	0.65087	0.32620	D	AEFGBHCI	0.568873	0.57388	D	0.598968250114683	0.73108	5.912856	0.581860089813913	0.73640	6.003669	0.999999988369095	0.74766	0.615465	0.37627	0	0.588015	0.36545	0	0.658983	0.55881	0	0.56214	0.19341	0	.	.	5.78	4.87	0.62877	4.793000	0.62168	4.827000	0.45167	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.1722:0.8278:0.0:0.0	12.059	0.52846	586	0.69252	Seven cysteines, N-terminal|MANSC domain|Seven cysteines, N-terminal;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1794.98	33	chr12	12338471	.	C	T	1794.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.39;DP=834;ExcessHet=0.0000;FS=0.612;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.38;ReadPosRankSum=-1.165e+00;SOR=0.614	GT:AD:DP:GQ:PL	0/1:71,74:145:99:1809,0,1501	20	0	1	0
chr12	12908649	12908649	A	G	exonic	GPRC5A	.	nonsynonymous SNV	GPRC5A:NM_003979:exon2:c.A400G:p.I134V,	.	.	427	1073	22	0	0	22	0.0101476	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.44	T	0.139	B	0.026	B	0.340	N	1.000	N	1.445	L	-2.29	D	-0.747	T	0.355	T	0.153	0.404	6.195	1.59	0.366	1.019	6.596	0.113	0.0232343930119	0.0068	0.00279553	0.0063	0.0011	0.0058	0	0.0018	0.0097	0.0033	0.0015	0.0063324	979	154602	rs146456083	0.0081	0.0081	0.0082	0.0080	0.0118	0.0080	0.0080	0.0095	0.0091	0.0013	0.0061	0.0160	0	0.0023	0.0118	0.0093	0.0080	0.0018	0.0059	0.0059	0.0062	0.0055	0.0095	0.0056	0.0054	0.0089	0.0086	0.0013	0.0033	0.0060	0.0130	0.0006	0.0016	0.0272	0.0095	0.0080	0.0029	0.053	0.38863	T	0.429	0.15842	T	0.139	0.27501	B	0.026	0.20792	B	0.340148	0.13976	N	0.710623	1	0.08975	N	1.95	0.52479	M	-2.29	0.87591	D	-0.4	0.13805	N	0.098	0.07949	-0.7468	0.58102	T	0.355	0.71774	T	10	0.009804606	0.00220	T	0.023234	0.46189	T	0.113	0.31778	.	.	0.459282285925	0.45551	0.09799676066710526	0.09730	0.0405854047819	0.04348	0.284715533257	0.08158	T	0.255836	0.62667	T	-0.357346	0.04282	T	-0.278117	0.46998	T	0.00653458727677705	0.00073	T	0.691931	0.30130	T	0.07007527	0.15406	0.055050515	0.09583	0.07007527	0.15406	0.055050515	0.09582	-3.403	0.15097	T	.	.	0.101	0.23465	B	.;.;.	.;.;.	1.161654	0.15504	11.90	0.86613532475089228	0.16654	0.55143	0.29790	D	AEFGBHCI	0.228861	0.35247	N	-0.552226736514286	0.20414	1.07596	-0.49246902524428	0.22361	1.214123	0.999998467325783	0.74766	0.722319	0.85440	0	0.610034	0.51514	0	0.547309	0.15389	0	0.735409	0.98432	0	.	.	5.63	1.59	0.22622	1.045000	0.29951	1.298000	0.25456	0.756000	0.94297	0.980000	0.35271	0.685000	0.26142	0.203000	0.21983	0.4074:0.3099:0.0:0.2827	6.596	0.21869	923	0.18507	GPCR family 3, C-terminal;GPCR family 3, C-terminal;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	3371.98	33	chr12	12908649	.	A	G	3371.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.266e+00;DP=1186;ExcessHet=0.0000;FS=5.101;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.71;ReadPosRankSum=0.854;SOR=0.584	GT:AD:DP:GQ:PL	0/1:116,130:246:99:3386,0,3008	20	0	1	0
chr12	21537061	21537061	C	T	exonic	GYS2	.	nonsynonymous SNV	GYS2:NM_021957:exon16:c.G2005A:p.D669N,	Glycogen storage disease 0, liver, Autosomal recessive	.	1	1495	24	2	0	28	0.00927767	.	.	211598	Glycogen_storage_disorder_due_to_hepatic_glycogen_synthase_deficiency|not_specified|not_provided	MONDO:MONDO:0009414,MedGen:C1855861,OMIM:240600,Orphanet:2089|MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.39	T	0.001	B	0.002	B	0.003	N	1.000	D	0	N	-0.19	T	-1.092	T	0.094	T	0.061	1.654	11.49	0.943	-0.010	0.001	8.988	0.050	.	0.0015	0.00199681	0.0037	0.0003	0.0026	0	0	0.0030	0.0055	0.0128	0.0032665	505	154602	rs142656537	0.0022	0.0022	0.0017	0.0027	0.0144	0.0021	0.0021	0.0138	0.0135	0.0002	0.0017	0.0268	2.519e-05	5.616e-05	0.0050	0.0008	0.0032	0.0144	0.0018	0.0018	0.0014	0.0022	0.0114	0.0016	0.0015	0.0090	0.0081	0.0002	0	0.0016	0.0271	0	9.436e-05	0	0.0012	0.0024	0.0114	0.297	0.14645	T	0.224	0.25591	T	0.001	0.07471	B	0.002	0.06944	B	0.002709	0.36068	N	0.297881	0.985722	0.40325	D	0.425	0.12573	N	-0.19	0.65931	T	-1.5	0.36586	N	0.134	0.13055	-1.0920	0.05207	T	0.094	0.35524	T	10	0.005063325	0.00109	T	.	.	.	0.050	0.13987	.	.	0.449088463789	0.44533	0.31098072267249066	0.31011	0.115968932059	0.13078	0.302496671677	0.10774	T	0.293702	0.66640	T	-0.582032	0.00187	T	-0.597149	0.13052	T	0.0111084068973165	0.00162	T	0.922208	0.71716	D	0.04919059	0.08696	0.04708933	0.06708	0.045363978	0.07411	0.056559913	0.10126	-5.237	0.39315	T	.	.	0.093	0.13923	B	.	.	0.521958	0.08906	5.688	0.97992049956812322	0.37408	0.15788	0.19082	N	AEFBI	0.298864	0.40807	N	-0.971278121881305	0.09220	0.435512	-0.921888275720626	0.11578	0.5907001	9.66969042619924E-4	0.08067	0.553676	0.25195	0	0.59043	0.45803	0	0.618467	0.43123	0	0.530356	0.10902	0	.	.	4.93	0.943	0.18655	-0.086000	0.11198	-0.783000	0.07446	0.568000	0.28809	0.001000	0.13787	0.000000	0.08366	0.912000	0.44740	0.0:0.6862:0.0:0.3138	8.988	0.35164	865	0.32612	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.02381	1137.98	38	chr12	21537061	.	C	T	1137.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.500e-02;DP=828;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.40;ReadPosRankSum=0.574;SOR=0.710	GT:AD:DP:GQ:PL	0/1:34,45:79:99:1152,0,820	20	0	1	0
chr12	29495332	29495332	A	G	exonic	OVCH1	.	nonsynonymous SNV	OVCH1:NM_001353179:exon4:c.T407C:p.M136T,	.	.	434	1071	15	2	0	19	0.00879223	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07	T	0.901	P	0.399	B	.	.	1.000	N	0.235	N	-2.3	D	-0.621	T	0.354	T	0.376	1.168	9.753	-1.27	-0.245	0.219	4.884	0.337	0.0133570225336	0.0011	0.000599042	0.0007	0	0.0007	0	0	0.0012	0	0.0002	0.0006727	104	154602	rs145585474	0.0006	0.0006	0.0006	0.0006	0.0099	0.0005	0.0005	0.0078	0.0071	0.0005	0.0008	0.0081	0	3.749e-05	0.0099	0.0004	0.0014	0.0002	0.0008	0.0008	0.0007	0.0010	0.0016	0.0007	0.0007	0.0011	0.0010	9.618e-05	0.0230	0.0016	0.0089	0	0	0.0068	0.0006	0.0009	0	0.003	0.68238	D	0.002	0.79402	D	.	.	.	.	.	.	.	.	.	.	0.999998	0.08975	N	.	.	.	-2.3	0.87671	D	-4.1	0.74900	D	0.387	0.42834	-0.6214	0.63931	T	0.354	0.71728	T	9	0.007379234	0.00168	T	0.013357	0.32703	T	0.337	0.65913	.	.	0.771612649732	0.76951	0.19048937656957088	0.18966	0.198141154326	0.22192	0.420207709074	0.27865	T	.	.	.	-0.259407	0.12969	T	-0.201745	0.54480	T	0.0664368857320869	0.08141	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.203	0.42749	B	.	.	1.185806	0.15766	12.09	0.97573721156912263	0.34692	0.19815	0.20806	N	AEFI	0.033367	0.03942	N	-0.482265707306602	0.22662	1.211648	-0.585589920534754	0.19869	1.06795	0.00284753427874371	0.09746	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	2.89	-1.27	0.08863	0.205000	0.17154	0.347000	0.17439	0.731000	0.85647	0.846000	0.30379	0.025000	0.21018	0.747000	0.35681	0.4511:0.3697:0.0:0.1792	4.884	0.13051	752	0.51611	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1045.98	35	chr12	29495332	.	A	G	1045.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-9.660e-01;DP=866;ExcessHet=0.0000;FS=0.766;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.01;ReadPosRankSum=-4.770e-01;SOR=0.601	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:50,45:95:99:0|1:29495332_A_G:1060,0,1249:29495332	20	0	1	0
chr12	30726042	30726042	G	C	exonic	CAPRIN2	.	nonsynonymous SNV	CAPRIN2:NM_001385538:exon7:c.C761G:p.P254R	.	.	436	1007	74	5	0	84	0.0400381	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	1.0	D	1.0	D	0.001	D	0.980	D	1.65	L	2.21	T	0.305	D	0.569	D	0.82	3.816	19.38	4.72	1.348	4.493	15.950	0.205	.	0.0062	0.0111821	0.0092	0.0008	0.0064	0	0.0041	0.0086	0.0188	0.0251	0.0086092	1331	154602	rs73079976	0.0075	0.0076	0.0068	0.0082	0.0250	0.0074	0.0073	0.0228	0.0225	0.0009	0.0059	0.0069	2.561e-05	0.0043	0.0250	0.0068	0.0083	0.0237	0.0062	0.0062	0.0061	0.0064	0.0255	0.0059	0.0058	0.0218	0.0204	0.0012	0	0.0109	0.0101	0.0002	0.0027	0.0340	0.0075	0.0142	0.0255	0.007	0.72154	D	0.012	0.69154	D	1.0	0.90584	D	1.0	0.97372	D	0.000820	0.41658	D	0.244148	0.870816	0.39633	D	2.175	0.60977	M	1.72	0.80301	T	-4.19	0.76822	D	0.718	0.76481	0.305	0.87642	D	0.569	0.84399	D	10	0.0067775548	0.00154	T	.	.	.	0.205	0.49236	.	.	0.648614416266	0.64569	0.5195242696993202	0.51875	0.359186557532	0.37614	0.546116471291	0.45309	T	0.181502	0.53319	T	-0.0767919	0.40235	T	0.135171	0.79231	D	0.0256440277215045	0.01358	T	0.950705	0.86917	D	.	.	.	.	.	.	.	.	-13.034	0.89503	D	.	.	0.856	0.83681	P	.;.;.;.;.	.;.;.;.;.	4.065732	0.60367	24.2	0.99821863177600145	0.90502	0.62678	0.31854	D	ALL	0.618364	0.60420	D	0.593248100385037	0.72752	5.855505	0.574672674676995	0.73129	5.920273	1.0	0.98316	0.730579	0.87903	0	0.633656	0.55848	0	0.709663	0.75317	0	0.648885	0.59868	0	.	.	5.62	4.72	0.59248	3.892000	0.55947	7.436000	0.58833	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:0.864:0.136	15.950	0.79616	917	0.20147	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	1353.11	34	chr12	30726042	.	G	C	1353.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.455;DP=800;ExcessHet=0.1072;FS=0.000;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=12.41;ReadPosRankSum=2.01;SOR=0.719	GT:AD:DP:GQ:PL	0/1:13,33:46:99:807,0,271	19	0	2	0
chr12	32850772	32850772	T	C	exonic	PKP2	.	nonsynonymous SNV	PKP2:NM_001005242:exon5:c.A1372G:p.I458V	Arrhythmogenic right ventricular dysplasia 9, Autosomal dominant	YES	2	1502	18	0	0	18	0.00595632	.	.	54188	Cardiomyopathy|not_specified|Arrhythmogenic_right_ventricular_dysplasia_9|PKP2-related_disorder|Cardiovascular_phenotype|Primary_dilated_cardiomyopathy|not_provided	Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848|MedGen:CN169374|MONDO:MONDO:0012180,MedGen:C1836906,OMIM:609040|.|MedGen:CN230736|EFO:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,Human_Phenotype_Ontology:HP:0001725,Human_Phenotype_Ontology:HP:0005159,Human_Phenotype_Ontology:HP:0200130,MONDO:MONDO:0005021,MeSH:D002311,MedGen:C0007193,Orphanet:217604|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.91	T	0.956	P	0.712	P	0.004	N	0.956	D	0.555	N	0.86	T	-0.803	T	0.193	T	0.384	3.001	16.01	4.7	1.880	3.390	10.608	0.238	0.131746136054	.	0.00159744	0.0013	0	8.654e-05	0	0	6.005e-05	0.0022	0.0091	0.0010737	166	154602	rs199571473	0.0006	0.0006	0.0003	0.0009	0.0095	0.0006	0.0006	0.0089	0.0087	8.977e-05	2.236e-05	0	2.519e-05	0	0.0031	2.609e-05	0.0006	0.0095	0.0004	0.0004	0.0003	0.0005	0.0095	0.0003	0.0003	0.0073	0.0066	2.407e-05	0	0	0	0	0	0.0034	0.0001	0	0.0095	0.329	0.13175	T	0.105	0.39190	T	0.783	0.54666	P	0.588	0.54017	P	0.004144	0.34057	N	0.315671	0.95626	0.37965	D	0.73	0.18813	N	-0.36	0.68754	T	-0.57	0.19297	N	0.359	0.40063	-0.8034	0.54944	T	0.193	0.54667	T	10	0.009797215	0.00220	T	0.131746	0.81402	D	0.238	0.54217	.	.	0.561255953167	0.55787	0.12082017086383469	0.12009	0.528918376042	0.50453	0.590106010437	0.51509	T	0.141046	0.47591	T	-0.366006	0.03801	T	-0.292545	0.45508	T	0.0578029969033374	0.06818	T	0.766723	0.39447	T	0.10640072	0.25160	0.06553663	0.13298	0.10064365	0.23766	0.092574775	0.21824	-3.903	0.22348	T	0.2217153081542665	0.29907	0.138	0.58617	B	.;.	.;.	3.147412	0.42591	21.6	0.99848325046109443	0.92750	0.86419	0.45695	D	AEFDBI	0.532488	0.55233	D	0.054228577332818	0.44337	2.709635	0.133071421694827	0.46251	2.87414	0.0284775564298479	0.13834	0.553676	0.25195	0	0.573888	0.26702	0	0.527494	0.11647	0	0.620846	0.47308	0	.	.	4.7	4.7	0.58776	3.398000	0.52325	4.908000	0.45924	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:0.0:0.1612:0.8388	10.608	0.44594	666	0.61362	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1737.98	33	chr12	32850772	.	T	C	1737.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.477;DP=875;ExcessHet=0.0000;FS=2.854;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.96;MQRankSum=0.00;QD=11.29;ReadPosRankSum=-4.150e-01;SOR=0.586	GT:AD:DP:GQ:PL	0/1:82,72:154:99:1752,0,2010	20	0	1	0
chr12	39764776	39764776	G	C	exonic	SLC2A13	.	nonsynonymous SNV	SLC2A13:NM_052885:exon8:c.C1528G:p.L510V,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.34	T	0.374	B	0.326	B	0.000	D	1.000	D	0.86	L	-0.89	T	-0.602	T	0.322	T	0.754	2.842	15.47	5.39	2.533	4.151	19.172	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	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.4412	2610.12	56	chr12	39764776	.	G	C,A	2610.12	.	AC=14,1;AF=0.412,0.029;AN=34;BaseQRankSum=-6.850e-01;DP=1247;ExcessHet=23.1855;FS=336.411;InbreedingCoeff=-0.6462;MLEAC=16,1;MLEAF=0.471,0.029;MQ=60.00;MQRankSum=0.00;QD=2.73;ReadPosRankSum=0.591;SOR=12.071	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:36,17,0:53:99:0|1:39764776_G_C:228,0,980,335,1029,1364:39764776	2	0	14	4
chr12	39764776	39764776	G	A	exonic	SLC2A13	.	nonsynonymous SNV	SLC2A13:NM_052885:exon8:c.C1528T:p.L510F,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	0.722	P	0.519	P	0.000	D	1.000	D	1.98	M	-0.99	T	-0.129	T	0.446	T	0.785	3.086	16.31	5.39	2.533	4.151	19.172	0.489	0.0629985215375	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.22	0.18956	T	0.227	0.25362	T	0.722	0.42387	P	0.519	0.48163	P	0.000000	0.84330	D	0.000000	1	0.81001	D	.	.	.	-0.99	0.75911	T	-1.75	0.41428	N	0.71	0.71321	-0.1290	0.79425	T	0.446	0.78221	T	10	0.69258845	0.71947	D	0.062999	0.68831	D	0.489	0.77656	0.527	0.63263	0.644369250691	0.64143	0.8989563015606465	0.89867	0.486330154237	0.47495	0.655019402504	0.60698	T	0.25826	0.62940	T	0.186182	0.72612	D	0.0296617	0.72257	D	0.980596303939819	0.73444	D	0.89551	0.63622	D	0.35904205	0.57762	0.30843896	0.56862	0.35904205	0.57763	0.30843896	0.56861	-11.185	0.80663	D	.	.	0.171	0.37633	B	.	.	4.277361	0.65129	24.8	0.99608861495682466	0.74694	0.91321	0.53298	D	AEFCI	0.719950	0.67067	D	0.487429499125516	0.66355	4.939395	0.535340465806759	0.70385	5.49735	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	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.4412	2610.12	56	chr12	39764776	.	G	C,A	2610.12	.	AC=14,1;AF=0.412,0.029;AN=34;BaseQRankSum=-6.850e-01;DP=1247;ExcessHet=23.1855;FS=336.411;InbreedingCoeff=-0.6462;MLEAC=16,1;MLEAF=0.471,0.029;MQ=60.00;MQRankSum=0.00;QD=2.73;ReadPosRankSum=0.591;SOR=12.071	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:36,17,0:53:99:0|1:39764776_G_C:228,0,980,335,1029,1364:39764776	2	0	14	4
chr12	39764778	39764778	G	A	exonic	SLC2A13	.	nonsynonymous SNV	SLC2A13:NM_052885:exon8:c.C1526T:p.A509V,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.52	T	0.014	B	0.05	B	0.000	D	1.000	D	0.75	N	-1.01	T	-0.745	T	0.273	T	0.19	2.602	14.66	4.49	2.533	5.695	14.373	0.203	0.0177069271949	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.848e-07	6.841e-07	0	1.377e-06	9.001e-07	0	0	.	.	0	0	0	0	0	0	9.001e-07	0	0	6.581e-06	6.566e-06	0	1.347e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.309	0.14064	T	0.311	0.19660	T	0.014	0.16867	B	0.05	0.25278	B	0.000013	0.62929	D	0.113054	0.999713	0.48481	D	.	.	.	-1.01	0.76168	T	-0.31	0.12099	N	0.257	0.29081	-0.7453	0.58180	T	0.273	0.64443	T	10	0.21655372	0.38241	T	0.017707	0.39515	T	0.203	0.48915	0.697	0.83406	0.151262610727	0.14761	0.7928660009766968	0.79239	0.224749101013	0.25008	0.54022371769	0.44477	T	0.147497	0.48561	T	-0.0588532	0.43086	T	-0.322315	0.42320	T	0.95820426940918	0.65209	D	0.889111	0.62070	D	0.12108061	0.28480	0.15200104	0.35782	0.12108061	0.28480	0.15200104	0.35781	-8.403	0.63785	D	.	.	0.247	0.48135	B	.	.	3.158678	0.42787	21.6	0.72433600078509297	0.09972	0.85720	0.44884	D	AEFCI	0.561062	0.56921	D	-0.0694159268393656	0.38738	2.273609	0.136951197838408	0.46454	2.891159	0.361488548204108	0.19782	0.653281	0.48532	0	0.573888	0.26702	0	0.675528	0.61593	0	0.620846	0.47308	0	.	.	5.39	4.49	0.54177	5.774000	0.68561	9.659000	0.81190	0.671000	0.69459	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0721:0.0:0.9279:0.0	14.373	0.66419	507	0.75469	Major facilitator superfamily domain|Major facilitator superfamily domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.1875	835.24	35	chr12	39764778	.	G	A	835.24	.	AC=6;AF=0.188;AN=32;BaseQRankSum=-2.930e+00;DP=1096;ExcessHet=1.7912;FS=200.882;InbreedingCoeff=-0.2409;MLEAC=5;MLEAF=0.156;MQ=60.00;MQRankSum=0.00;QD=2.54;ReadPosRankSum=0.399;SOR=9.608	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:36,17:53:99:0|1:39764776_G_C:228,0,980:39764776	10	0	6	5
chr12	40483015	40483015	A	0	exonic	MUC19	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7619	481509.55	1118	chr12	40483015	.	A	G,*	481509.55	.	AC=32,2;AF=0.762,0.048;AN=42;BaseQRankSum=-3.082e+00;DP=19979;ExcessHet=0.5418;FS=0.000;InbreedingCoeff=0.0735;MLEAC=32,2;MLEAF=0.762,0.048;MQ=59.68;MQRankSum=0.00;QD=26.76;ReadPosRankSum=0.264;SOR=0.666	GT:AD:DP:GQ:PL	1/1:0,849,0:849:99:27774,2547,0,29300,2611,33539	1	12	6	0
chr12	40483068	40483068	G	0	exonic	MUC19	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.619	356058.34	934	chr12	40483068	.	G	A,*	356058.34	.	AC=26,1;AF=0.619,0.024;AN=42;BaseQRankSum=2.01;DP=18690;ExcessHet=0.1361;FS=0.637;InbreedingCoeff=0.2741;MLEAC=26,1;MLEAF=0.619,0.024;MQ=59.71;MQRankSum=0.00;QD=24.52;ReadPosRankSum=0.509;SOR=0.620	GT:AD:DP:GQ:PL	1/1:0,819,0:819:99:27669,2458,0,27669,2458,27669	4	9	7	0
chr12	40483220	40483220	T	A	exonic	MUC19	.	unknown	UNKNOWN,	.	.	543	941	36	2	0	40	0.0208117	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0603377376754	.	0.00439297	.	.	.	.	.	.	.	.	0.0026894	70	26028	rs144440388	0.0013	0.0008	0.0013	0.0014	0.0111	0.0013	0.0013	0.0098	0.0093	0.0003	0.0020	0.0002	0.0066	0	0.0105	0.0011	0.0033	0.0111	0.0021	0.0021	0.0016	0.0025	0.0142	0.0019	0.0018	0.0115	0.0105	0.0003	0	0.0030	0	0.0097	0	0.0068	0.0018	0.0033	0.0142	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	0.09524	46855.92	623	chr12	40483220	.	T	A	46855.92	.	AC=4;AF=0.095;AN=42;BaseQRankSum=4.39;DP=15070;ExcessHet=0.6776;FS=0.000;InbreedingCoeff=-0.1053;MLEAC=4;MLEAF=0.095;MQ=59.99;MQRankSum=0.991;QD=14.59;ReadPosRankSum=0.343;SOR=0.743	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:413,457:873:99:.:.:12051,0,10978	17	0	4	0
chr12	40483902	40483902	C	T	exonic	MUC19	.	unknown	UNKNOWN,	.	.	547	967	8	0	0	8	0.00411946	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001153	3	26028	rs796546299	0.0001	0.0001	0.0001	0.0001	0.0019	9.984e-05	9.226e-05	0.0009	0.0007	0.0003	0	0	0	0	0.0019	8.137e-05	0.0003	0.0013	0.0003	0.0008	0.0003	0.0003	0.0019	0.0002	0.0002	0.0009	0.0006	0.0002	0	0.0004	0	0.0002	0	0	0.0003	0.0006	0.0019	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	12945.98	618	chr12	40483902	.	C	T	12945.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=6.78;DP=13970;ExcessHet=0.0000;FS=1.105;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.42;ReadPosRankSum=0.341;SOR=0.591	GT:AD:DP:GQ:PL	0/1:420,478:898:99:12960,0,9593	20	0	1	0
chr12	40485210	40485210	A	G	exonic	MUC19	.	unknown	UNKNOWN,	.	.	548	972	1	0	1	2	0.000514139	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1237855094	3.377e-05	0.0021	3.268e-05	3.503e-05	0.0124	2.317e-05	1.958e-05	0.0065	0.0048	6.784e-05	0.0124	0	0.0003	0	0	1.181e-05	0.0002	0	0.0003	0.0043	0.0002	0.0003	0.0021	0.0002	0.0002	0.0015	0.0013	0.0001	0	0.0021	0	0	0.0001	0	5.051e-05	0.0006	0.0005	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.1053	3792.02	713	chr12	40485210	.	A	G,AGTGACAGGGACAACTGGACTGTCGGCTGAAGTGACAGGGACAACTGGG	3792.02	.	AC=3,1;AF=0.079,0.026;AN=38;BaseQRankSum=6.72;DP=16027;ExcessHet=0.6776;FS=25.309;InbreedingCoeff=-0.1351;MLEAC=3,1;MLEAF=0.079,0.026;MQ=57.97;MQRankSum=-2.746e+01;QD=1.12;ReadPosRankSum=-6.528e+00;SOR=3.183	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:865,88,0:953:99:0|1:40485198_AAGGACT_A:747,0,35819,3351,36090,39441:40485198	15	0	3	2
chr12	40485210	40485210	-	GTGACAGGGACAACTGGACTGTCGGCTGAAGTGACAGGGACAACTGGG	exonic	MUC19	.	unknown	UNKNOWN,	.	.	548	972	1	0	1	2	0.000514139	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1053	3792.02	713	chr12	40485210	.	A	G,AGTGACAGGGACAACTGGACTGTCGGCTGAAGTGACAGGGACAACTGGG	3792.02	.	AC=3,1;AF=0.079,0.026;AN=38;BaseQRankSum=6.72;DP=16027;ExcessHet=0.6776;FS=25.309;InbreedingCoeff=-0.1351;MLEAC=3,1;MLEAF=0.079,0.026;MQ=57.97;MQRankSum=-2.746e+01;QD=1.12;ReadPosRankSum=-6.528e+00;SOR=3.183	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:865,88,0:953:99:0|1:40485198_AAGGACT_A:747,0,35819,3351,36090,39441:40485198	15	0	3	2
chr12	40486087	40486087	A	G	exonic	MUC19	.	unknown	UNKNOWN,	.	.	558	957	7	0	0	7	0.00364394	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs1438207721	1.205e-06	0.0002	0	2.609e-06	1.316e-06	0	0	.	.	0	0	0	0	0	0	1.316e-06	0	0	0.0067	0.0083	0.0057	0.0078	0.0528	0.0064	0.0062	0.0496	0.0483	0.0020	0	0.0528	0	0.0110	0.0066	0	0.0006	0.0065	0.0040	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.1	23855.3	510	chr12	40486087	.	A	G	23855.3	.	AC=4;AF=0.100;AN=40;BaseQRankSum=-1.404e+00;DP=16199;ExcessHet=0.6776;FS=0.000;InbreedingCoeff=-0.1200;MLEAC=4;MLEAF=0.100;MQ=59.05;MQRankSum=-1.733e+01;QD=5.67;ReadPosRankSum=-4.207e+00;SOR=0.703	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:849,152:1001:99:1|0:40486052_G_T:3827,0,35192:40486052	16	0	4	1
chr12	40486574	40486574	G	0	exonic	MUC19	.	.	.	.	.	621	744	27	1	129	158	0.0191167	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1071	12193.03	853	chr12	40486574	.	G	*,A	12193.03	.	AC=2,1;AF=0.071,0.036;AN=28;BaseQRankSum=1.14;DP=23730;ExcessHet=0.3300;FS=9.074;InbreedingCoeff=-0.1831;MLEAC=3,1;MLEAF=0.107,0.036;MQ=58.09;MQRankSum=-8.390e-01;QD=2.78;ReadPosRankSum=1.57;SOR=1.265	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:987,0,530:1517:99:.:.:12204,15160,42979,0,27819,26231	11	0	2	7
chr12	40487424	40487424	-	TGG	exonic	MUC19	.	unknown	UNKNOWN,	.	.	531	647	136	0	208	344	0.0951049	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1394452281	0	6.859e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	4.247e-05	0.0036	3.291e-05	5.266e-05	0.0003	1.641e-05	1.002e-05	6.32e-06	2.36e-06	2.999e-05	0	0	0	0.0003	0.0001	0	3.809e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4	50116.39	790	chr12	40487424	.	T	TTGG,TCAGGTGTAGTGACAGGGACAACTGGCCC,C	50116.39	.	AC=6,9,1;AF=0.150,0.225,0.025;AN=40;BaseQRankSum=0.400;DP=24038;ExcessHet=20.9642;FS=1.658;InbreedingCoeff=-0.6518;MLEAC=6,9,1;MLEAF=0.150,0.225,0.025;MQ=57.01;MQRankSum=-2.483e+01;QD=4.00;ReadPosRankSum=2.51;SOR=1.617	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:1398,0,97,0:1495:99:.:.:6150,4018,62265,0,58198,57928,7439,62707,58675,65677	4	0	6	1
chr12	40487424	40487424	-	CAGGTGTAGTGACAGGGACAACTGGCCC	exonic	MUC19	.	unknown	UNKNOWN,	.	.	531	647	136	0	208	344	0.0951049	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.211e-06	9.603e-06	2.25e-06	0	0.0010	0	0	.	.	0	0.0010	0	0	0	0	0	0	0	0.0003	0.0073	0.0003	0.0004	0.0005	0.0003	0.0002	0.0003	0.0002	0.0002	0	0.0005	0	0.0003	0.0005	0	0.0004	0	0.0003	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4	50116.39	790	chr12	40487424	.	T	TTGG,TCAGGTGTAGTGACAGGGACAACTGGCCC,C	50116.39	.	AC=6,9,1;AF=0.150,0.225,0.025;AN=40;BaseQRankSum=0.400;DP=24038;ExcessHet=20.9642;FS=1.658;InbreedingCoeff=-0.6518;MLEAC=6,9,1;MLEAF=0.150,0.225,0.025;MQ=57.01;MQRankSum=-2.483e+01;QD=4.00;ReadPosRankSum=2.51;SOR=1.617	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:1398,0,97,0:1495:99:.:.:6150,4018,62265,0,58198,57928,7439,62707,58675,65677	4	0	6	1
chr12	40487443	40487443	-	CCTGGAGTGTCAGCTGGGGTGACAGGGACAATTGGATCACCAGCTGGAGTGACAGGG	exonic	MUC19	.	unknown	UNKNOWN,	.	.	536	681	142	0	163	305	0.0944149	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.209e-06	8.913e-06	2.247e-06	0	0.0010	0	0	.	.	0	0.0010	0	0	0	0	0	0	0	0.0009	0.0080	0.0007	0.0011	0.0013	0.0007	0.0007	0.0007	0.0007	0.0006	0	0.0013	0	0.0009	0.0016	0	0.0010	0.0013	0.0003	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4167	47580.64	785	chr12	40487443	.	A	G,ACCTGGAGTGTCAGCTGGGGTGACAGGGACAATTGGATCACCAGCTGGAGTGACAGGG	47580.64	.	AC=6,9;AF=0.167,0.250;AN=36;BaseQRankSum=-4.103e+00;DP=24007;ExcessHet=17.4423;FS=3.030;InbreedingCoeff=-0.6471;MLEAC=7,10;MLEAF=0.194,0.278;MQ=56.96;MQRankSum=-2.803e+01;QD=3.55;ReadPosRankSum=-2.836e+00;SOR=1.131	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:1380,0,80:1460:99:.:.:5902,3295,59416,0,56110,55925	3	0	6	3
chr12	40488222	40488222	A	0	exonic	MUC19	.	.	.	.	.	668	663	143	10	38	201	0.109469	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	32216.33	821	chr12	40488222	.	A	G,*	32216.33	.	AC=6,2;AF=0.188,0.063;AN=32;BaseQRankSum=0.891;DP=14011;ExcessHet=3.7745;FS=5.226;InbreedingCoeff=-0.2727;MLEAC=7,2;MLEAF=0.219,0.063;MQ=58.53;MQRankSum=-1.512e+01;QD=4.86;ReadPosRankSum=-8.904e+00;SOR=1.107	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:478,191,0:669:99:0|1:40488222_A_G:6265,0,19385,7704,19960,27664:40488222	8	0	6	5
chr12	40488224	40488224	A	0	exonic	MUC19	.	.	.	.	.	25	95	24	1	81	107	0.12037	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5833	211896.28	821	chr12	40488224	.	A	G,T,*	211896.28	.	AC=18,2,2;AF=0.500,0.056,0.056;AN=36;BaseQRankSum=0.772;DP=14066;ExcessHet=0.3330;FS=0.000;InbreedingCoeff=0.0926;MLEAC=20,2,2;MLEAF=0.556,0.056,0.056;MQ=59.12;MQRankSum=0.00;QD=20.60;ReadPosRankSum=1.34;SOR=0.697	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:191,481,0,0:672:99:1|0:40488222_A_G:17248,0,6484,17823,7928,25751,17823,7928,25751,25751:40488222	3	6	5	3
chr12	40488231	40488231	G	0	exonic	MUC19	.	.	.	.	.	640	765	79	12	26	129	0.0630741	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2222	25357.79	821	chr12	40488231	.	G	*,T	25357.79	.	AC=2,6;AF=0.056,0.167;AN=36;BaseQRankSum=0.517;DP=13285;ExcessHet=3.7745;FS=5.683;InbreedingCoeff=-0.2250;MLEAC=2,7;MLEAF=0.056,0.194;MQ=58.57;MQRankSum=-1.600e+01;QD=3.94;ReadPosRankSum=-8.076e+00;SOR=1.218	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:483,0,173:656:99:0|1:40488222_A_G:5730,7184,27465,0,20281,19760:40488222	10	0	2	3
chr12	40488234	40488234	A	0	exonic	MUC19	.	.	.	.	.	655	769	59	13	26	111	0.0523722	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1944	21813.94	821	chr12	40488234	.	A	T,*	21813.94	.	AC=5,2;AF=0.139,0.056;AN=36;BaseQRankSum=3.22;DP=13121;ExcessHet=2.7391;FS=7.380;InbreedingCoeff=-0.1784;MLEAC=6,2;MLEAF=0.167,0.056;MQ=58.57;MQRankSum=-1.943e+01;QD=3.85;ReadPosRankSum=-8.512e+00;SOR=1.352	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:481,160,0:641:99:0|1:40488222_A_G:5270,0,19715,6718,20197,26915:40488222	11	0	5	3
chr12	40488244	40488244	G	0	exonic	MUC19	.	.	.	.	.	0	221	4	0	1	5	0.00896861	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.119	13676.28	821	chr12	40488244	.	G	A,*	13676.28	.	AC=4,1;AF=0.095,0.024;AN=42;BaseQRankSum=9.41;DP=12099;ExcessHet=1.1607;FS=4.938;InbreedingCoeff=-0.1351;MLEAC=4,1;MLEAF=0.095,0.024;MQ=58.35;MQRankSum=-1.233e+01;QD=3.77;ReadPosRankSum=-8.872e+00;SOR=1.284	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:471,124,0:595:99:0|1:40488244_G_A:3716,0,19376,5134,19750,24884:40488244	16	0	4	0
chr12	40488250	40488250	A	T	exonic	MUC19	.	unknown	UNKNOWN,	.	.	590	918	12	0	2	14	0.00649351	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs1458586940	2.996e-05	0.0004	2.53e-05	3.537e-05	0.0125	1.96e-05	1.674e-05	0.0068	0.0052	0	0.0125	0	0.0009	0	0	5.951e-06	0.0001	0.0002	0.0039	0.0090	0.0031	0.0047	0.0330	0.0036	0.0035	0.0303	0.0292	0.0009	0	0.0330	0	0.0033	0.0043	0	0.0002	0.0051	0.0023	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.09524	9287.95	821	chr12	40488250	.	A	T,*	9287.95	.	AC=3,1;AF=0.071,0.024;AN=42;BaseQRankSum=2.25;DP=11746;ExcessHet=0.6776;FS=13.100;InbreedingCoeff=-0.1053;MLEAC=3,1;MLEAF=0.071,0.024;MQ=58.29;MQRankSum=-1.105e+01;QD=4.09;ReadPosRankSum=-8.702e+00;SOR=1.818	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:462,101,0:563:99:0|1:40488244_G_A:2850,0,19068,4241,19372,23613:40488244	17	0	3	0
chr12	40488250	40488250	A	0	exonic	MUC19	.	.	.	.	.	0	222	3	0	1	4	0.00671141	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09524	9287.95	821	chr12	40488250	.	A	T,*	9287.95	.	AC=3,1;AF=0.071,0.024;AN=42;BaseQRankSum=2.25;DP=11746;ExcessHet=0.6776;FS=13.100;InbreedingCoeff=-0.1053;MLEAC=3,1;MLEAF=0.071,0.024;MQ=58.29;MQRankSum=-1.105e+01;QD=4.09;ReadPosRankSum=-8.702e+00;SOR=1.818	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:462,101,0:563:99:0|1:40488244_G_A:2850,0,19068,4241,19372,23613:40488244	17	0	3	0
chr12	40488252	40488252	A	0	exonic	MUC19	.	.	.	.	.	1	222	2	0	1	3	0.0044843	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	4982.98	821	chr12	40488252	.	A	G,*	4982.98	.	AC=3,1;AF=0.075,0.025;AN=40;BaseQRankSum=2.35;DP=11631;ExcessHet=0.7148;FS=49.965;InbreedingCoeff=-0.1200;MLEAC=3,1;MLEAF=0.075,0.025;MQ=58.48;MQRankSum=-8.793e+00;QD=2.32;ReadPosRankSum=-8.295e+00;SOR=4.909	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:459,67,0:526:99:0|1:40488244_G_A:1432,0,19072,2813,19273,22087:40488244	16	0	3	1
chr12	40488255	40488255	G	T	exonic	MUC19	.	unknown	UNKNOWN,	.	.	602	913	7	0	0	7	0.00381888	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs1488209478	9.531e-06	0.0003	7.591e-06	1.179e-05	0.0063	3.96e-06	2.55e-06	0.0025	0.0016	0	0.0063	0	0.0003	0	0	1.488e-06	0	0	0.0031	0.0084	0.0026	0.0037	0.0275	0.0029	0.0028	0.0248	0.0238	0.0007	0	0.0275	0	0.0031	0.0031	0	0.0002	0.0034	0.0019	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.1	3447.98	821	chr12	40488255	.	G	T,*	3447.98	.	AC=3,1;AF=0.075,0.025;AN=40;BaseQRankSum=1.94;DP=11556;ExcessHet=0.6776;FS=44.354;InbreedingCoeff=-0.1200;MLEAC=3,1;MLEAF=0.075,0.025;MQ=58.40;MQRankSum=-8.042e+00;QD=1.64;ReadPosRankSum=-7.804e+00;SOR=5.614	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:452,54,0:506:99:0|1:40488244_G_A:907,0,18817,2267,18979,21247:40488244	16	0	3	1
chr12	40488255	40488255	G	0	exonic	MUC19	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	3447.98	821	chr12	40488255	.	G	T,*	3447.98	.	AC=3,1;AF=0.075,0.025;AN=40;BaseQRankSum=1.94;DP=11556;ExcessHet=0.6776;FS=44.354;InbreedingCoeff=-0.1200;MLEAC=3,1;MLEAF=0.075,0.025;MQ=58.40;MQRankSum=-8.042e+00;QD=1.64;ReadPosRankSum=-7.804e+00;SOR=5.614	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:452,54,0:506:99:0|1:40488244_G_A:907,0,18817,2267,18979,21247:40488244	16	0	3	1
chr12	40488256	40488256	T	0	exonic	MUC19	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	3060.98	821	chr12	40488256	.	T	A,*	3060.98	.	AC=3,1;AF=0.075,0.025;AN=40;BaseQRankSum=10.51;DP=11535;ExcessHet=0.6776;FS=41.825;InbreedingCoeff=-0.1200;MLEAC=3,1;MLEAF=0.075,0.025;MQ=58.40;MQRankSum=-8.249e+00;QD=1.47;ReadPosRankSum=-7.647e+00;SOR=5.531	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:449,51,0:500:99:0|1:40488244_G_A:790,0,18700,2141,18853,20995:40488244	16	0	3	1
chr12	40488262	40488262	A	G	exonic	MUC19	.	unknown	UNKNOWN,	.	.	600	919	3	0	0	3	0.00162955	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs1243397229	0	7.332e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0010	0.0054	0.0009	0.0012	0.0092	0.0009	0.0008	0.0078	0.0073	0.0002	0	0.0092	0	0.0009	0.0010	0	6.866e-05	0.0011	0.0003	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.07143	1682.68	821	chr12	40488262	.	A	G	1682.68	.	AC=3;AF=0.071;AN=42;BaseQRankSum=5.90;DP=11357;ExcessHet=0.3300;FS=47.936;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=57.93;MQRankSum=-8.349e+00;QD=1.14;ReadPosRankSum=-7.960e+00;SOR=8.427	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:443,41:484:99:0|1:40488244_G_A:388,0,18478:40488244	18	0	3	0
chr12	40490366	40490367	TC	-	exonic	MUC19	.	unknown	UNKNOWN,	.	.	553	944	13	1	11	26	0.00788229	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1263425823	0.0002	0.0001	0.0002	0.0002	0.0037	0.0002	0.0002	0.0024	0.0021	0	0	0.0045	0	0	0.0037	7.312e-05	0.0010	0.0030	0.0005	0.0005	0.0004	0.0006	0.0025	0.0004	0.0004	0.0015	0.0011	4.867e-05	0	0.0011	0.0071	0	0	0.0035	0.0002	0.0020	0.0025	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	15256.94	519	chr12	40490365	.	ATC	A	15256.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.990e-01;DP=13210;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=58.67;MQRankSum=-4.687e+00;QD=17.93;ReadPosRankSum=1.17;SOR=0.672	GT:AD:DP:GQ:PL	0/1:452,399:851:99:15271,0,17595	20	0	1	0
chr12	40490978	40490978	G	A	exonic	MUC19	.	unknown	UNKNOWN,	.	.	551	935	33	1	2	37	0.0183727	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00419329	.	.	.	.	.	.	.	.	0.0025742	67	26028	rs144654701	0.0014	0.0008	0.0014	0.0014	0.0116	0.0013	0.0013	0.0103	0.0097	0.0003	0.0021	0.0002	0.0067	0	0.0107	0.0011	0.0034	0.0116	0.0020	0.0020	0.0016	0.0025	0.0139	0.0018	0.0018	0.0112	0.0102	0.0003	0	0.0030	0	0.0094	0	0.0068	0.0018	0.0033	0.0139	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	33680.3	582	chr12	40490978	.	G	A	33680.3	.	AC=4;AF=0.100;AN=40;BaseQRankSum=2.26;DP=13328;ExcessHet=0.6776;FS=0.000;InbreedingCoeff=-0.1200;MLEAC=4;MLEAF=0.100;MQ=59.56;MQRankSum=-3.345e+00;QD=12.86;ReadPosRankSum=0.453;SOR=0.714	GT:AD:DP:GQ:PL	0/1:277,277:554:99:7425,0,7364	16	0	4	1
chr12	43429690	43429690	T	A	exonic	ADAMTS20	.	nonsynonymous SNV	ADAMTS20:NM_025003:exon24:c.A3416T:p.K1139I,	.	.	422	1096	4	0	0	4	0.00182149	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08	T	0.002	B	0.003	B	0.160	N	1.000	N	1.245	L	0.18	T	-0.966	T	0.188	T	0.228	1.258	10.10	2.17	0.314	2.445	6.455	0.080	.	.	0.00798722	0.0099	0.0002	0.0004	0	0	0.0003	0.0023	0.0487	0.0040038	619	154602	rs556416774	0.0021	0.0022	0.0012	0.0030	0.0342	0.0020	0.0020	0.0332	0.0328	0	0	0.0015	2.543e-05	0	0.0009	2.089e-05	0.0019	0.0342	0.0013	0.0013	0.0007	0.0020	0.0392	0.0012	0.0011	0.0346	0.0329	2.407e-05	0	0	0.0017	0	0	0.0068	2.94e-05	0.0014	0.0392	0.148	0.24857	T	0.179	0.32783	T	.	.	.	.	.	.	0.159891	0.03030	N	1.783800	1	0.08975	N	0.345	0.11182	N	0.18	0.62318	T	-1.99	0.45949	N	0.353	0.39457	-0.9662	0.37974	T	0.188	0.53856	T	10	0.0033797324	0.00059	T	.	.	.	0.080	0.23350	.	.	0.728219343613	0.72580	0.40515359757396235	0.40431	0.0537900202015	0.05943	0.281335920095	0.07679	T	.	.	.	-0.488074	0.00666	T	-0.448098	0.27907	T	0.0166194557622647	0.00422	T	0.544846	0.18617	T	.	.	.	.	.	.	.	.	-4.524	0.31201	T	.	.	0.186	0.40131	B	.;.;.	.;.;.	1.629653	0.20810	14.92	0.90008085711112829	0.19298	0.38835	0.26077	N	AEFBI	0.135826	0.25629	N	-0.792780248416179	0.13498	0.6653346	-0.823996711990817	0.13915	0.7243663	5.86084020006862E-6	0.01202	0.615465	0.37627	0	0.573888	0.26702	0	0.658983	0.55881	0	0.564101	0.26826	0	.	.	4.69	2.17	0.26736	1.670000	0.37118	2.054000	0.30360	0.609000	0.47794	0.012000	0.18695	0.057000	0.21958	0.172000	0.21044	0.1566:0.0:0.1638:0.6796	6.455	0.21126	889	0.27310	.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1248.98	36	chr12	43429690	.	T	A	1248.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.935e+00;DP=797;ExcessHet=0.0000;FS=1.738;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.73;ReadPosRankSum=-1.143e+00;SOR=0.981	GT:AD:DP:GQ:PL	0/1:38,53:91:99:1263,0,1048	20	0	1	0
chr12	50355622	50355622	T	A	exonic	FAM186A	.	nonsynonymous SNV	FAM186A:NM_001145475:exon4:c.A1210T:p.T404S,	.	.	432	1089	1	0	0	1	0.000458926	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.57	T	0.0	B	0.002	B	.	.	1.000	N	0	N	2.98	T	-0.963	T	0.011	T	0.04	-0.253	2.782	-6.39	-2.779	-3.486	5.336	0.001	0.00416219765544	.	0.000199681	5.094e-05	0	0	0	0	0	0	0.0001	1.94e-05	3	154602	rs541872085	7.861e-06	7.524e-06	5.641e-06	1.014e-05	0.0001	4.22e-06	3.08e-06	5.83e-05	4.355e-05	0	0	0	0	0	0	1.854e-06	0	0.0001	6.563e-06	6.561e-06	1.285e-05	0	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.232	0.18184	T	0.847	0.03538	T	0.0	0.02946	B	0.002	0.06944	B	.	.	.	.	1	0.08975	N	0.805	0.20218	L	2.98	0.09356	T	-0.63	0.18459	N	0.026	0.00527	-0.9629	0.38625	T	0.011	0.03903	T	9	0.021455944	0.00514	T	0.004162	0.09995	T	0.001	0.00016	0.232	0.16005	0.0138822411134	0.00435	0.01102873951545734	0.01063	.	.	0.239215865731	0.02721	T	0.001481	0.00934	T	-0.62198	0.00107	T	-0.861908	0.00823	T	0.0518253261996615	0.05817	T	0.223678	0.02905	T	0.03185723	0.03102	0.035538424	0.02824	0.03185723	0.03102	0.035538424	0.02823	-2.619	0.06649	T	.	.	0.121	0.25166	B	.;.	.;.	-1.439874	0.00333	0.006	0.29243799415449218	0.01541	0.00595	0.02663	N	AEFDBI	.	.	.	-2.00274142977735	0.00209	0.008945175	-2.09625608780109	0.00190	0.008357259	0.99999869136592	0.74766	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.613276	0.41899	0	.	.	3.2	-6.39	0.01778	-2.999000	0.00717	-1.371000	0.05598	-0.808000	0.03092	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1126:0.5289:0.1144:0.2441	5.336	0.15265	612	0.66786	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1487.98	62	chr12	50355622	.	T	A	1487.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.26;DP=1120;ExcessHet=0.0000;FS=1.441;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.30;ReadPosRankSum=-1.351e+00;SOR=0.567	GT:AD:DP:GQ:PL	0/1:68,53:121:99:1502,0,1895	20	0	1	0
chr12	51706661	51706661	G	C	exonic	SCN8A	.	nonsynonymous SNV	SCN8A:NM_001177984:exon11:c.G1581C:p.K527N	Epileptic encephalopathy, early infantile, 13, Autosomal dominant;Seizures, benign familial infantile, 5, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.928	P	0.503	P	0.000	D	0.817	N	1.76	L	-2.82	D	0.033	D	0.626	D	0.12	2.608	14.68	2.46	0.518	0.299	7.062	0.252	0.0719142025239	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.392e-06	3.968e-05	1.38e-06	1.404e-06	3.092e-05	2.3e-07	9e-08	.	.	3.092e-05	0	0	0	0	0	9.097e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.72154	D	0.223	0.33109	T	0.431	0.35606	B	0.315	0.41566	B	0.000179	0.48594	D	0.184301	0.816986	0.28930	N	2.195	0.61839	M	-2.82	0.91192	D	-2.89	0.62747	D	0.442	0.53445	0.033	0.82901	D	0.626	0.86854	D	10	0.24059924	0.41222	T	0.071914	0.71394	D	0.252	0.56159	0.33	0.31519	0.902646408154	0.90167	0.5674523308067984	0.56673	1.41807407564	0.85568	0.605724453926	0.53712	T	0.703665	0.91489	D	-0.0247068	0.48179	T	-0.273266	0.47488	T	0.927446901798248	0.59031	D	0.789921	0.45664	T	0.2993846	0.52850	0.29699904	0.55732	0.2993846	0.52850	0.29699904	0.55732	-3.007	0.12177	T	.	.	0.476	0.68156	A	.;.;.;.;.;.;.	.;.;.;.;.;.;.	2.650273	0.34508	19.65	0.9983572789978995	0.91714	0.18883	0.20441	N	AEFBI	0.095722	0.19336	N	-0.290515847983622	0.29512	1.637351	-0.293922467393298	0.28298	1.576831	0.186781275037378	0.17948	0.706548	0.73137	0	0.59043	0.45803	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	4.41	2.46	0.29032	0.104000	0.15148	1.189000	0.24752	0.676000	0.76740	0.600000	0.27747	1.000000	0.68203	0.996000	0.76049	0.4379:0.0:0.5621:0.0	7.062	0.24310	579	0.69780	Voltage-gated Na+ ion channel, cytoplasmic domain;Voltage-gated Na+ ion channel, cytoplasmic domain;.;.;.;.;Voltage-gated Na+ ion channel, cytoplasmic domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.2647	805.0	65	chr12	51706661	.	G	C	805.0	.	AC=9;AF=0.265;AN=34;BaseQRankSum=-2.321e+00;DP=1362;ExcessHet=4.7172;FS=136.953;InbreedingCoeff=-0.3697;MLEAC=10;MLEAF=0.294;MQ=60.00;MQRankSum=0.00;QD=1.42;ReadPosRankSum=1.14;SOR=11.381	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:55,20:75:49:.:.:49,0,1109	8	0	9	4
chr12	52949315	52949315	G	C	exonic	KRT18	.	nonsynonymous SNV	KRT18:NM_000224:exon1:c.G142C:p.V48L	Cirrhosis, cryptogenic, Autosomal recessive	.	400	768	347	0	7	354	0.18428	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.29	T	0.65	P	0.223	B	0.138	N	1.000	N	2.865	M	-1.57	D	-0.406	T	0.471	T	0.427	2.081	12.91	0.954	0.219	-0.441	7.665	0.446	0.210614070419	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1359140246	6.957e-07	0.0003	0	1.399e-06	3.037e-05	0	0	.	.	3.037e-05	0	0	0	0	0	0	0	0	0.0011	0.0092	0.0010	0.0012	0.0024	0.0010	0.0009	0.0013	0.0012	0.0003	0.0024	0.0008	0.0021	0	0.0016	0	0.0015	0.0016	0.0024	0.187	0.21385	T	0.404	0.14818	T	0.519	0.40644	P	0.111	0.37929	B	0.138376	0.18380	N	0.416972	1	0.81001	D	2.265	0.64440	M	-1.57	0.82347	D	-1.0	0.26422	N	0.082	0.05799	-0.4056	0.71850	T	0.471	0.79663	T	10	0.083414674	0.13874	T	0.210614	0.87261	D	0.446	0.74797	0.415	0.45380	0.860313002099	0.85896	0.7160274570190178	0.71545	0.531599379089	0.50652	0.573910236359	0.49230	T	0.147259	0.48525	T	0.0174853	0.54042	T	-0.21266	0.53441	T	0.265387445688248	0.23549	T	0.0516948	0.00385	T	0.047216356	0.08035	0.043877922	0.05557	0.047216356	0.08035	0.043877922	0.05557	-4.986	0.36687	T	0.2609872102591527	0.35238	0.319	0.56786	B	.;.;.	.;.;.	0.909457	0.12836	9.352	0.95101178256288821	0.26176	0.54699	0.29680	D	AEFDBHCI	0.804658	0.72946	D	-0.508296202011104	0.21811	1.160241	-0.604811601927955	0.19369	1.038886	0.999992841170832	0.74766	0.733237	0.96898	0	0.609123	0.50646	0	0.600757	0.32118	0	0.638787	0.57140	0	.	.	3.79	0.954	0.18719	-0.106000	0.10860	.	.	-0.227000	0.07798	0.000000	0.06391	0.005000	0.19230	0.311000	0.24761	0.3008:0.0:0.6992:0.0	7.665	0.27595	769	0.49307	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.5	15089.32	89	chr12	52949315	.	G	A,C	15089.32	.	AC=20,1;AF=0.476,0.024;AN=42;BaseQRankSum=1.47;DP=1835;ExcessHet=54.0936;FS=3.984;InbreedingCoeff=-1.0000;MLEAC=20,1;MLEAF=0.476,0.024;MQ=56.35;MQRankSum=-9.015e+00;QD=8.31;ReadPosRankSum=-4.930e-01;SOR=1.108	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:56,25,0:81:99:0|1:52949314_C_T:881,0,2276,1050,2351,3401:52949314	0	0	20	0
chr12	53027809	53027820	GGTATCGGGATG	-	exonic	EIF4B	.	nonframeshift deletion	EIF4B:NM_001330654:exon6:c.578_589del:p.Y202_G205del	.	.	437	1075	10	0	0	10	0.00462963	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00179712	0.0013	0.0016	0.0015	0.0015	0.0002	0.0011	0.0011	0.0025	0.0003458	9	26028	rs577970499	0.0009	0.0009	0.0008	0.0010	0.0039	0.0009	0.0009	0.0027	0.0025	0.0016	0.0017	0.0004	0.0022	0.0003	0.0039	0.0007	0.0012	0.0030	0.0015	0.0015	0.0016	0.0014	0.0035	0.0014	0.0013	0.0022	0.0019	0.0019	0.0197	0.0017	0	0.0035	0.0002	0.0034	0.0010	0.0047	0.0023	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025	2509.3	122	chr12	53027808	.	CGGTATCGGGATG	C	2509.3	.	AC=1;AF=0.025;AN=40;BaseQRankSum=2.76;DP=2433;ExcessHet=0.0000;FS=0.673;InbreedingCoeff=-0.0256;MLEAC=1;MLEAF=0.025;MQ=58.72;MQRankSum=-4.819e+00;QD=19.01;ReadPosRankSum=0.694;SOR=0.828	GT:AD:DP:GQ:PL	0/1:66,66:132:99:2523,0,2559	19	0	1	1
chr12	54362957	54362957	G	-	exonic	GPR84	.	frameshift deletion	GPR84:NM_020370:exon2:c.895delC:p.Q299Sfs*19,	.	.	428	1091	3	0	0	3	0.001373	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.295e-05	0	0	0	0	5.993e-05	0	0	3.23e-05	5	154602	rs780521780	5.336e-05	5.336e-05	5.581e-05	5.088e-05	0.0023	4.344e-05	4.017e-05	0.0013	0.0011	2.987e-05	2.236e-05	0	0	0	0.0023	4.946e-05	0.0001	0	3.938e-05	3.937e-05	2.569e-05	5.368e-05	6.533e-05	1.714e-05	1.128e-05	4.88e-06	1.83e-06	0	0	6.533e-05	0	0	0	0.0034	2.94e-05	0.0009	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2273.94	34	chr12	54362956	.	TG	T	2273.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.48;DP=872;ExcessHet=0.0000;FS=0.557;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.85;ReadPosRankSum=-8.850e-01;SOR=0.611	GT:AD:DP:GQ:PL	0/1:98,79:177:99:2288,0,2958	20	0	1	0
chr12	56106718	56106718	-	AA	splicing	PA2G4	NM_006191:exon2:c.217+2->AA	.	.	.	.	12	180	28	5	1	39	0.0954774	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0064	.	0.0014	0.0031	0.0003	0.0096	0.0002	0.0004	0.0028	0.0011	0.0002689	7	26028	rs34728522	0.0009	0.0013	0.0009	0.0009	0.0130	0.0009	0.0008	0.0120	0.0116	0.0040	0.0004	0.0006	0.0130	0.0003	0.0002	0.0003	0.0026	0.0011	0.0013	0.0014	0.0013	0.0013	0.0126	0.0011	0.0011	0.0101	0.0092	0.0016	0	0.0018	0.0006	0.0126	0	0	0.0002	0.0069	0.0009	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.119	4355.8	33	chr12	56106718	.	T	TA,TAA	4355.8	.	AC=3,2;AF=0.071,0.048;AN=42;BaseQRankSum=1.16;DP=919;ExcessHet=0.0409;FS=3.717;InbreedingCoeff=0.2976;MLEAC=3,2;MLEAF=0.071,0.048;MQ=60.00;MQRankSum=0.00;QD=14.14;ReadPosRankSum=-9.390e-01;SOR=0.623	GT:AD:DP:GQ:PL	0/1:48,40,0:88:99:775,0,1014,919,1134,2052	17	0	3	0
chr12	56243225	56243225	C	T	exonic	ANKRD52	.	nonsynonymous SNV	ANKRD52:NM_173595:exon28:c.G3148A:p.G1050S,	.	.	.	.	.	.	.	.	.	.	.	3282268	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.1	T	0.009	B	0.001	B	0.028	N	0.956	D	0	N	0.02	T	-1.037	T	0.096	T	0.089	0.413	6.242	2.85	0.935	1.781	5.371	0.071	0.014647409114	.	.	9.178e-06	0	0	0	0	1.661e-05	0	0	3.84e-05	1	26028	rs769320051	6.706e-05	6.704e-05	8.17e-05	5.227e-05	8.005e-05	5.63e-05	5.173e-05	6.61e-05	6.141e-05	5.974e-05	0	0	0	0	0	8.005e-05	9.942e-05	1.16e-05	1.313e-05	1.968e-05	1.285e-05	1.342e-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	0.206	0.19927	T	0.489	0.11586	T	0.009	0.15093	B	0.001	0.04355	B	0.028397	0.25609	N	0.317042	0.956447	0.37974	D	0	0.06538	N	0.02	0.62318	T	-0.34	0.12661	N	0.05	0.02179	-1.0366	0.18357	T	0.096	0.36055	T	10	0.08332524	0.13849	T	0.014647	0.34905	T	0.071	0.20720	0.514	0.61307	0.430026717358	0.42623	0.5175916014096361	0.51682	0.797753573997	0.66110	0.640124380589	0.58581	T	0.021874	0.16964	T	-0.306388	0.08070	T	-0.547431	0.17572	T	0.0512607172131538	0.05720	T	0.753225	0.37546	T	0.06323412	0.13294	0.062365495	0.12191	0.06323412	0.13293	0.062365495	0.12190	-2.997	0.10149	T	.	.	0.080	0.07841	B	.	.	3.714266	0.53042	23.3	0.94966115436978693	0.25888	0.96879	0.71436	D	AEFDBI	0.277251	0.39180	N	-0.699584636527989	0.16033	0.8133717	-0.567930265066695	0.20332	1.09492	0.999322752886197	0.39149	0.67177	0.52595	0	0.702456	0.74545	0	0.570548	0.19454	0	0.635551	0.53088	0	.	.	3.76	2.85	0.32333	1.500000	0.35290	7.648000	0.63548	0.596000	0.33519	0.943000	0.32764	1.000000	0.68203	0.986000	0.61781	0.0:0.6766:0.2107:0.1127	5.371	0.15438	447	0.79583	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1029.98	42	chr12	56243225	.	C	T	1029.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.304;DP=797;ExcessHet=0.0000;FS=1.723;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.57;ReadPosRankSum=0.731;SOR=0.917	GT:AD:DP:GQ:PL	0/1:43,46:89:99:1044,0,933	20	0	1	0
chr12	56433425	56433425	C	A	exonic	TIMELESS	.	nonsynonymous SNV	TIMELESS:NM_001330295:exon5:c.G385T:p.A129S	.	.	430	1051	41	0	0	41	0.0191321	.	.	738762	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.41	T	0.229	B	0.174	B	0.012	N	0.855	N	0.64	N	0.91	T	-1.015	T	0.101	T	0.179	2.902	15.67	0.088	0.037	0.896	5.881	0.032	.	0.0046	0.00638978	0.0079	0.0009	0.0024	0	0.0086	0.0065	0.0066	0.0255	0.0075937	1174	154602	rs72478986	0.0069	0.0069	0.0061	0.0076	0.0258	0.0068	0.0067	0.0249	0.0245	0.0005	0.0034	0.0054	2.519e-05	0.0086	0.0154	0.0059	0.0065	0.0258	0.0057	0.0057	0.0054	0.0059	0.0241	0.0053	0.0052	0.0205	0.0192	0.0011	0.0187	0.0051	0.0058	0.0004	0.0085	0.0102	0.0070	0.0076	0.0241	0.072	0.35165	T	0.04	0.50809	D	0.229	0.30546	B	0.174	0.35540	B	0.012069	0.29301	N	0.349556	0.854854	0.28443	N	1.15	0.29295	L	0.91	0.44856	T	-1.17	0.29933	N	0.395	0.43610	-1.0154	0.25207	T	0.101	0.37518	T	10	0.005491823	0.00121	T	.	.	.	0.032	0.07718	.	.	0.323342291347	0.31936	0.1607800497811879	0.15999	0.171209344156	0.19289	0.346322804689	0.17378	T	0.102101	0.40949	T	-0.544533	0.00315	T	-0.535363	0.18754	T	0.0170223713933494	0.00451	T	0.873013	0.58094	D	0.0435973	0.06821	0.05841588	0.10790	0.0435973	0.06821	0.05841588	0.10790	-3.821	0.21119	T	.	.	0.111	0.21466	B	.;.	.;.	2.246897	0.28697	17.88	0.98645243699174356	0.44110	0.97081	0.72578	D	AEFBI	0.257301	0.37605	N	-0.411462268572135	0.25066	1.358009	-0.299378036005498	0.28119	1.56532	0.0742263954363048	0.15659	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.42	0.088	0.13762	0.926000	0.28405	0.126000	0.14982	0.599000	0.40250	0.562000	0.27441	0.685000	0.26142	0.998000	0.85391	0.0:0.3314:0.3729:0.2956	5.881	0.18101	147	0.94143	Timeless protein;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1451.98	35	chr12	56433425	.	C	A	1451.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-9.380e-01;DP=824;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.67;ReadPosRankSum=-7.270e-01;SOR=0.741	GT:AD:DP:GQ:PL	0/1:43,56:99:99:1466,0,1114	20	0	1	0
chr12	56716773	56716773	G	C	exonic	NACA	.	nonsynonymous SNV	NACA:NM_001365896:exon3:c.C4757G:p.T1586S,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.068	B	0.014	B	.	.	1.000	N	.	.	0.86	T	-1.034	T	0.064	T	0.05	0.296	5.604	0.899	-0.131	1.411	4.156	0.039	0.00305659900259	.	.	9.816e-06	0	0	0	0	1.699e-05	0	0	6.5e-06	1	154602	rs767225318	1.64e-06	2.736e-06	1.602e-06	1.679e-06	2.057e-06	2.7e-07	1e-07	3.4e-07	1.3e-07	0	0	0	0	0	0	2.057e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.015	0.52492	D	0.991	0.02359	T	0.068	0.23728	B	0.014	0.16862	B	.	.	.	.	1	0.08975	N	.	.	.	0.86	0.46777	T	0.5	0.02945	N	0.101	0.08366	-1.0337	0.19268	T	0.064	0.26420	T	7	0.065919876	0.08966	T	0.003057	0.06606	T	0.039	0.10176	0.258	0.20002	0.143124449307	0.13826	.	.	.	.	.	.	.	0.054013	0.29605	T	-0.338711	0.05478	T	-0.678114	0.07099	T	0.0160011250896684	0.00381	T	0.29797	0.05545	T	0.088434465	0.20628	0.04913326	0.07443	0.088434465	0.20628	0.04913326	0.07442	-6.613	0.51153	T	.	.	0.185	0.40065	B	.	.	0.222103	0.06044	2.485	0.22551627331878571	0.00912	0.30145	0.24006	N	AEFDBHCI	0.103815	0.20788	N	-0.895325869115206	0.10953	0.5260411	-0.976878655503586	0.10306	0.5182001	0.999970967611248	0.50053	0.729952	0.87565	0	0.585951	0.33947	0	0.536957	0.11973	0	0.636168	0.56350	0	.	.	3.89	0.899	0.18403	0.283000	0.18605	0.707000	0.20898	0.520000	0.23804	0.000000	0.06391	0.034000	0.21380	0.175000	0.21139	0.2912:0.0:0.546:0.1628	4.156	0.09728	45	0.97767	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2381	801.6	63	chr12	56716773	.	G	C	801.6	.	AC=10;AF=0.238;AN=42;BaseQRankSum=-3.814e+00;DP=1566;ExcessHet=6.1002;FS=143.092;InbreedingCoeff=-0.3330;MLEAC=10;MLEAF=0.238;MQ=60.00;MQRankSum=0.00;QD=1.05;ReadPosRankSum=0.671;SOR=10.685	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:50,14:64:76:0|1:56716773_G_C:76,0,1346:56716773	11	0	10	0
chr12	57233235	57233235	C	T	exonic	SHMT2	.	nonsynonymous SNV	SHMT2:NM_001166356:exon8:c.C883T:p.R295W	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.999	D	0.935	D	0.035	N	0.630	N	0	N	0.8	T	-0.759	T	0.129	T	0.338	4.346	22.9	0.505	0.298	1.063	13.699	0.021	0.0272557921045	.	.	1.722e-05	0	8.673e-05	0	0	1.53e-05	0	0	2.59e-05	4	154602	rs530949491	9.835e-05	9.919e-05	9.706e-05	9.965e-05	0.0001	8.489e-05	7.964e-05	0.0001	0.0001	0	0	0	0	0	0	0.0001	4.996e-05	1.17e-05	5.252e-05	5.249e-05	2.569e-05	8.055e-05	0.0001	2.555e-05	1.829e-05	4.764e-05	3.339e-05	2.407e-05	0	0	0	0	0	0	0.0001	0	0	0.0	0.91255	D	0.001	0.83351	D	0.961	0.55431	D	0.606	0.50970	P	0.034871	0.24715	N	0.417011	0.912059	0.30708	N	1.04	0.26193	L	0.8	0.48769	T	-4.07	0.76576	D	0.43	0.47949	-0.7590	0.57460	T	0.129	0.43747	T	10	0.24179327	0.41364	T	0.027256	0.50089	D	0.132	0.35948	.	.	0.701246472698	0.69865	0.5992475148722353	0.59855	1.10936446881	0.78000	0.246727496386	0.03431	T	0.305163	0.67742	T	-0.226046	0.17175	T	-0.375938	0.36197	T	0.512637555599213	0.33094	D	0.983202	0.94423	D	0.4618836	0.64788	0.42574236	0.66374	0.4618836	0.64788	0.42574236	0.66374	-12.074	0.86713	D	.	.	0.180	0.43213	B	.;.;.;.;.;.	.;.;.;.;.;.	4.648230	0.74066	26.1	0.9990940943528942	0.97949	0.89876	0.50631	D	AEFBCI	0.910904	0.86944	D	-0.178582659010347	0.34027	1.937354	-0.220685494698068	0.30794	1.737038	0.99982969567254	0.43622	0.722319	0.85440	0	0.697927	0.68747	0	0.698795	0.65105	0	0.714379	0.83352	0	.	.	4.82	0.505	0.16157	1.184000	0.31663	2.720000	0.34304	0.599000	0.40250	0.007000	0.17678	0.981000	0.30433	0.998000	0.85391	0.7087:0.2913:0.0:0.0	13.699	0.62076	405	0.82444	Serine hydroxymethyltransferase-like domain;.;Serine hydroxymethyltransferase-like domain;Serine hydroxymethyltransferase-like domain;Serine hydroxymethyltransferase-like domain;Serine hydroxymethyltransferase-like domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	2225.98	37	chr12	57233235	.	C	T	2225.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.61;DP=865;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.25;ReadPosRankSum=-1.409e+00;SOR=0.717	GT:AD:DP:GQ:PL	0/1:80,88:168:99:2240,0,1876	20	0	1	0
chr12	64430176	64430176	C	T	exonic	XPOT	.	nonsynonymous SNV	XPOT:NM_007235:exon17:c.C1865T:p.T622I,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.306	B	0.08	B	0.125	N	0.868	D	1.76	L	-0.27	T	-0.645	T	0.231	T	0.335	2.503	14.33	5.28	2.646	2.924	14.847	0.077	0.0285640204716	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.045	0.40832	D	0.05	0.48080	T	0.306	0.32693	B	0.08	0.28873	B	0.125218	0.18851	N	0.584116	0.868061	0.35510	D	2.625	0.76847	M	-0.27	0.67367	T	-2.24	0.50175	N	0.595	0.61426	-0.6452	0.62922	T	0.231	0.59719	T	9	0.36646053	0.53139	T	0.028564	0.51224	D	0.077	0.22490	0.437	0.48993	0.498516491401	0.49487	0.33072634797977407	0.32985	0.445790252621	0.44461	0.539954900742	0.44439	T	0.40878	0.76401	T	-0.0225639	0.48487	T	-0.270188	0.47801	T	0.503273010253906	0.32749	D	0.89491	0.63503	D	0.14096336	0.32501	0.13112544	0.31493	0.14096336	0.32501	0.13112544	0.31492	-6.403	0.49533	T	.	.	0.124	0.26232	B	.	.	3.077711	0.41394	21.3	0.99632002193371538	0.76081	0.91439	0.53536	D	AEFBI	0.216140	0.34142	N	0.123956431223719	0.47582	2.981917	0.250860920292627	0.52699	3.442951	0.933309268617801	0.27123	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.28	5.28	0.74118	2.985000	0.49051	7.663000	0.64347	0.599000	0.40250	0.999000	0.42656	1.000000	0.68203	0.976000	0.56436	0.0:0.8565:0.1435:0.0	14.847	0.69900	698	0.58074	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1382.98	33	chr12	64430176	.	C	T	1382.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.350e-01;DP=777;ExcessHet=0.0000;FS=0.817;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.27;ReadPosRankSum=0.031;SOR=0.818	GT:AD:DP:GQ:PL	0/1:36,49:85:99:1397,0,1002	20	0	1	0
chr12	66420771	66420771	G	C	exonic	GRIP1	.	nonsynonymous SNV	GRIP1:NM_001178074:exon14:c.C1631G:p.P544R	Fraser syndrome, Autosomal recessive	.	1	1509	11	1	0	13	0.00428901	.	.	332722	Fraser_syndrome_3|GRIP1-related_disorder|not_provided	MONDO:MONDO:0054739,MedGen:C4540040,OMIM:617667|.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	.	.	0.827	P	0.778	P	0.000	D	1.000	D	1.64	L	-1.57	D	-0.617	T	0.309	T	0.875	0.426	6.316	5.16	2.797	7.030	17.315	0.113	0.0574034658443	.	0.00139776	0.0011	0.0001	0.0002	0	0	7.494e-05	0	0.0076	0.0009573	148	154602	rs200955760	0.0005	0.0005	0.0002	0.0007	0.0071	0.0004	0.0004	0.0067	0.0065	3.041e-05	0	0	2.532e-05	0	0.0005	3.243e-05	0.0003	0.0071	0.0002	0.0002	7.712e-05	0.0003	0.0062	0.0001	0.0001	0.0045	0.0039	0	0	0	0	0	0	0	0	0	0.0062	0.523	0.07895	T	0.39	0.16134	T	0.004	0.32740	B	0.025	0.45726	B	0.000000	0.84330	D	0.049883	0.999993	0.58761	D	1.435	0.35949	L	-1.57	0.81900	D	-3.78	0.71882	D	0.633	0.65673	-0.6169	0.64117	T	0.309	0.67940	T	9	0.010807812	0.00239	T	0.057403	0.66953	D	0.642	0.86384	0.483	0.56462	0.848690222601	0.84724	0.48321259946095213	0.48241	0.318195740285	0.34049	0.705433011055	0.67930	T	0.253207	0.62370	T	-0.0209587	0.48717	T	0.202245	0.83251	D	0.0575189814338341	0.06773	T	0.768423	0.44001	T	0.4725346	0.65446	0.3827097	0.63251	0.469466	0.65258	0.37295392	0.62493	-9.986	0.74425	D	0.2498314482915124	0.33818	0.309	0.53686	B	.;.;.;.;.	.;.;.;.;.	4.825698	0.78650	26.9	0.5805632515811604	0.05907	0.96921	0.71669	D	AEFI	0.750772	0.69179	D	0.377766024215754	0.60217	4.20847	0.433208908422237	0.63647	4.602519	0.80725428117441	0.24291	0.615465	0.37627	0	0.573888	0.26702	0	0.658983	0.55881	0	0.542086	0.14980	0	.	.	5.16	5.16	0.70563	6.102000	0.71139	9.822000	0.81809	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.988000	0.63387	0.0:0.0:1.0:0.0	17.315	0.87109	910	0.22284	.;PDZ domain|PDZ domain|PDZ domain;PDZ domain|PDZ domain|PDZ domain;PDZ domain|PDZ domain|PDZ domain;PDZ domain|PDZ domain|PDZ domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	577.98	43	chr12	66420771	.	G	C	577.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.321;DP=831;ExcessHet=0.0000;FS=0.960;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.89;ReadPosRankSum=-2.504e+00;SOR=0.922	GT:AD:DP:GQ:PL	0/1:38,27:65:99:592,0,912	20	0	1	0
chr12	70353915	70353915	A	-	exonic	CNOT2	.	nonframeshift deletion	CNOT2:NM_001199303:exon16:c.1623delA:p.X541X	.	.	869	502	37	12	102	163	0.057277	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4286	2294.56	31	chr12	70353913	.	TAA	T,TA,TAAA	2294.56	.	AC=9,8,4;AF=0.214,0.190,0.095;AN=42;BaseQRankSum=0.709;DP=1081;ExcessHet=11.2363;FS=0.442;InbreedingCoeff=-0.4297;MLEAC=8,8,3;MLEAF=0.190,0.190,0.071;MQ=60.00;MQRankSum=0.00;QD=8.40;ReadPosRankSum=-2.490e-01;SOR=0.744	GT:AD:DP:GQ:PL	0/1:9,3,5,0:21:4:97,0,197,4,67,104,110,216,150,320	3	0	8	0
chr12	70353915	70353915	-	A	exonic	CNOT2	.	nonframeshift insertion	CNOT2:NM_001199303:exon16:c.1623dupA:p.X541delinsX	.	.	869	502	37	12	102	163	0.057277	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4286	2294.56	31	chr12	70353913	.	TAA	T,TA,TAAA	2294.56	.	AC=9,8,4;AF=0.214,0.190,0.095;AN=42;BaseQRankSum=0.709;DP=1081;ExcessHet=11.2363;FS=0.442;InbreedingCoeff=-0.4297;MLEAC=8,8,3;MLEAF=0.190,0.190,0.071;MQ=60.00;MQRankSum=0.00;QD=8.40;ReadPosRankSum=-2.490e-01;SOR=0.744	GT:AD:DP:GQ:PL	0/1:9,3,5,0:21:4:97,0,197,4,67,104,110,216,150,320	3	0	8	0
chr12	71620060	71620060	G	C	exonic	ZFC3H1	.	nonsynonymous SNV	ZFC3H1:NM_144982:exon26:c.C4915G:p.L1639V,	.	.	423	1096	3	0	0	3	0.00136674	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.18	T	0.993	D	0.757	P	0.000	D	1.000	D	0.895	L	1.4	T	-1.101	T	0.096	T	0.366	2.631	14.76	3.39	0.452	0.572	9.360	0.125	0.00931088667361	8.4e-05	0.000199681	0.0006	0	0	0	0.0039	0.0006	0.0034	0.0002	0.0005175	80	154602	rs201291512	0.0004	0.0004	0.0004	0.0004	0.0012	0.0004	0.0003	0.0006	0.0004	2.988e-05	0.0004	3.827e-05	0	0.0052	0.0012	0.0002	0.0007	0.0001	0.0004	0.0004	0.0003	0.0004	0.0004	0.0003	0.0003	0.0001	0.0001	0	0	0.0001	0	0	0.0031	0.0034	0.0002	0.0005	0.0004	0.035	0.43708	D	0.027	0.55341	D	0.993	0.65571	D	0.757	0.56292	P	0.000368	0.45194	D	0.112182	0.885666	0.35843	D	1.935	0.51832	L	1.4	0.33630	T	-0.63	0.18459	N	0.494	0.52740	-1.1014	0.03926	T	0.096	0.36029	T	10	0.009906948	0.00222	T	0.009311	0.24436	T	0.125	0.34456	.	.	0.043077524339	0.03247	0.29218768113213767	0.29131	1.10822079125	0.77962	0.463870704174	0.33841	T	0.038789	0.24963	T	-0.386316	0.02841	T	-0.410724	0.32140	T	0.0555167734656125	0.06443	T	0.879112	0.59504	D	0.07757025	0.17613	0.08656059	0.20063	0.07757025	0.17613	0.08656059	0.20062	-4.109	0.25423	T	.	.	0.185	0.39999	B	.	.	2.402805	0.30868	18.57	0.99731290443101306	0.82761	0.85226	0.44340	D	AEFBI	0.233161	0.35613	N	-0.0321292805942994	0.40403	2.398852	-0.0184520718419385	0.38883	2.297205	0.902991742793601	0.26141	0.722319	0.85440	0	0.724815	0.89359	0	0.698795	0.65105	0	0.714379	0.83352	0	.	.	5.71	3.39	0.37919	0.496000	0.22207	1.595000	0.27551	-0.116000	0.14526	0.993000	0.37899	0.531000	0.25362	0.943000	0.48514	0.8527:0.0:0.1473:0.0	9.360	0.37351	873	0.30802	Tetratricopeptide repeat-containing domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1519.98	37	chr12	71620060	.	G	C	1519.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.815e+00;DP=919;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.77;ReadPosRankSum=-2.193e+00;SOR=0.733	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:60,59:119:99:0|1:71620052_A_G:1534,0,1610:71620052	20	0	1	0
chr12	82354560	82354560	T	G	exonic	CCDC59	.	nonsynonymous SNV	CCDC59:NM_014167:exon3:c.A499C:p.T167P,	.	.	501	1018	3	0	0	3	0.00147131	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.993	D	0.000	D	0.997	D	2.425	M	.	.	-0.283	T	0.331	T	0.587	3.565	18.17	4.38	1.029	5.189	10.869	0.226	0.038845484569	0.0038	0.00179712	0.0046	0.0008	0.0008	0	0.0029	0.0078	0.0054	0.0018	0.0033893	524	154602	rs143136847	0.0051	0.0052	0.0053	0.0050	0.0062	0.0050	0.0050	0.0061	0.0061	0.0010	0.0010	7.747e-05	2.548e-05	0.0017	0.0004	0.0062	0.0047	0.0013	0.0033	0.0033	0.0035	0.0030	0.0050	0.0031	0.0030	0.0046	0.0044	0.0009	0.0275	0.0044	0	0.0002	0.0008	0	0.0050	0.0052	0.0021	0.003	0.68238	D	0.006	0.70582	D	1.0	0.90584	D	0.993	0.81110	D	0.000016	0.62929	D	0.151039	0.997085	0.43619	D	3.07	0.87108	M	.	.	.	-3.04	0.62863	D	0.541	0.56833	-0.2830	0.75458	T	0.331	0.69843	T	9	0.008198142	0.00186	T	0.038845	0.58465	D	0.226	0.52472	.	.	0.212008924253	0.20833	0.2655612069738832	0.26469	0.264391551032	0.28988	0.513762116432	0.40748	T	0.189936	0.54431	T	-0.214851	0.18700	T	-0.0798909	0.64912	T	0.0619239941158709	0.07468	T	0.724828	0.33863	T	0.50307125	0.67275	0.64237314	0.79101	0.50307125	0.67276	0.64237314	0.79102	-9.83	0.72888	D	.	.	0.519	0.65439	A	.	.	4.441164	0.68956	25.3	0.99666167562625818	0.78266	0.93911	0.59549	D	AEFBI	0.759047	0.69750	D	0.589866789247892	0.72541	5.822091	0.525820524097949	0.69733	5.402719	0.996891001664592	0.35096	0.732398	0.92422	0	0.709663	0.81188	0	0.65145	0.50148	0	0.727631	0.95156	0	.	.	5.53	4.38	0.52019	3.964000	0.56488	6.026000	0.52860	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0756:0.0:0.9244	10.869	0.46080	908	0.22609	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	34.98	34	chr12	82354560	.	T	G	34.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.07;DP=648;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=1.46;ReadPosRankSum=-1.085e+00;SOR=1.071	GT:AD:DP:GQ:PL	0/1:20,4:24:49:49,0,482	20	0	1	0
chr12	89471617	89471617	G	C	exonic	POC1B	.	nonsynonymous SNV	POC1B:NM_001199777:exon5:c.C547G:p.Q183E	Cone-rod dystrophy 20, Autosomal recessive	.	435	1079	8	0	0	8	0.00369344	.	.	822090	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.58	T	0.334	B	0.197	B	0.000	D	1.000	D	0.075	N	0.28	T	-0.995	T	0.113	T	0.377	2.472	14.22	6.02	2.857	5.072	16.150	0.086	0.0142541269415	0.0004	0.000199681	0.0004	0	0	0.0001	0	0.0005	0.0022	0.0007	0.0003622	56	154602	rs145981936	0.0002	0.0002	0.0002	0.0002	0.0049	0.0002	0.0002	0.0035	0.0030	9.107e-05	0.0004	0.0029	2.53e-05	0	0.0049	9.244e-05	0.0006	0.0005	0.0003	0.0003	0.0003	0.0003	0.0008	0.0002	0.0002	0.0005	0.0004	4.816e-05	0	0.0008	0.0020	0	0	0.0068	0.0002	0.0009	0.0006	0.01	0.56456	D	0.049	0.48336	D	0.334	0.33305	B	0.197	0.36707	B	0.000014	0.62929	D	0.155036	1	0.81001	D	0.735	0.18861	N	0.28	0.59037	T	-1.83	0.45949	N	0.25	0.31253	-0.9948	0.31352	T	0.113	0.40307	T	10	0.02311951	0.00596	T	0.014254	0.34240	T	0.086	0.25016	.	.	0.586756053714	0.58349	0.15780116846125739	0.15701	0.191270352614	0.21451	.	.	.	0.069725	0.33781	T	-0.262084	0.12658	T	-0.277982	0.47011	T	0.0364510650855852	0.03060	T	0.90231	0.77758	D	0.22675624	0.45363	0.3116786	0.57173	0.24818182	0.47803	0.26886395	0.52759	-7.163	0.55215	T	0.2510777077888485	0.33979	0.115	0.22861	B	.;.;.	.;.;.	3.665034	0.52089	23.2	0.97386164742167591	0.33696	0.99130	0.91667	D	AEFBI	0.719247	0.67019	D	0.0399781027656686	0.43683	2.656442	0.262079053021299	0.53339	3.503387	0.999995378323134	0.74766	0.706298	0.61202	0	0.633656	0.55848	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	6.02	6.02	0.97559	5.040000	0.63987	8.575000	0.77622	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:0.8588:0.1412	16.150	0.81423	859	0.33891	WD40-repeat-containing domain;WD40-repeat-containing domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1189.98	34	chr12	89471617	.	G	C	1189.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.140e-01;DP=797;ExcessHet=0.0000;FS=0.746;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.44;ReadPosRankSum=0.554;SOR=0.820	GT:AD:DP:GQ:PL	0/1:55,49:104:99:1204,0,1401	20	0	1	0
chr12	95787450	95787450	C	A	exonic	NTN4	.	nonsynonymous SNV	NTN4:NM_001329700:exon2:c.G74T:p.G25V	.	.	428	1080	14	0	0	14	0.00643974	.	.	702553	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.32	T	0.589	P	0.238	B	0.001	D	1.000	D	0.695	N	1.31	T	-1.105	T	0.043	T	0.541	1.820	12.05	5.77	2.722	0.994	10.350	0.130	0.00970468181	0.0045	0.00159744	0.0045	0.0005	0.0028	0	0.0020	0.0065	0.0034	0.0039	0.0042302	654	154602	rs34684875	0.0044	0.0045	0.0044	0.0045	0.0120	0.0044	0.0043	0.0097	0.0089	0.0010	0.0036	0.0158	2.519e-05	0.0024	0.0120	0.0045	0.0050	0.0047	0.0037	0.0037	0.0037	0.0037	0.0052	0.0034	0.0033	0.0045	0.0044	0.0010	0.0186	0.0032	0.0161	0	0.0019	0.0034	0.0050	0.0052	0.0052	0.084	0.36113	T	0.029	0.54934	D	0.454	0.39027	P	0.12	0.38539	B	0.000577	0.43250	D	0.236063	0.999994	0.81001	D	0.805	0.20218	L	1.29	0.35775	T	-1.65	0.39503	N	0.478	0.58287	-1.1048	0.03557	T	0.043	0.18285	T	10	0.004955709	0.00106	T	0.009705	0.25336	T	0.130	0.35528	.	.	0.363336886782	0.35939	0.5687383526311889	0.56801	0.548412643758	0.51783	0.557876050472	0.46968	T	0.012827	0.11203	T	-0.412443	0.01915	T	-0.362888	0.37717	T	0.0163043690718834	0.00401	T	0.765423	0.39305	T	0.15262194	0.34636	0.10035267	0.23991	0.15262194	0.34636	0.10035267	0.23991	-5.577	0.42619	T	.	.	0.114	0.25429	B	.;.	.;.	2.366181	0.30352	18.41	0.97782824411690028	0.35944	0.51789	0.28978	D	AEFDBCI	0.317095	0.42119	N	-0.279045214885687	0.29959	1.666064	-0.2161454345777	0.30956	1.747548	0.999999997204823	0.74766	0.722319	0.85440	0	0.563428	0.19063	0	0.590023	0.30420	0	0.735409	0.98432	0	.	.	5.77	5.77	0.91077	1.028000	0.29734	1.105000	0.24105	0.599000	0.40250	0.000000	0.06391	0.063000	0.22074	0.020000	0.11549	0.0:0.7935:0.1356:0.071	10.350	0.43111	835	0.38313	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	2451.98	35	chr12	95787450	.	C	A	2451.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.462e+00;DP=1005;ExcessHet=0.0000;FS=0.960;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.58;ReadPosRankSum=-1.650e+00;SOR=0.626	GT:AD:DP:GQ:PL	0/1:145,111:256:99:2466,0,3600	20	0	1	0
chr12	102958405	102958405	-	GCA	exonic	ASCL1	.	nonframeshift insertion	ASCL1:NM_004316:exon1:c.161_162insGCA:p.Q62_A63insQ,	Central hypoventilation syndrome, congenital, Autosomal dominant;Haddad syndrome, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4048	8950.5	47	chr12	102958393	.	CGCAGCAGCAGCA	CGCAGCAGCAGCAGCA,CGCAGCAGCAGCAGCAGCA,CGCAGCAGCA,C	8950.5	.	AC=13,1,1,2;AF=0.310,0.024,0.024,0.048;AN=42;BaseQRankSum=0.594;DP=762;ExcessHet=6.4157;FS=0.543;InbreedingCoeff=-0.2847;MLEAC=13,1,1,2;MLEAF=0.310,0.024,0.024,0.048;MQ=59.99;MQRankSum=0.00;QD=20.72;ReadPosRankSum=0.323;SOR=0.638	GT:AD:DP:GQ:PL	0/1:19,17,0,0,0:36:99:590,0,641,647,692,1339,647,692,1339,1339,647,692,1339,1339,1339	6	1	11	0
chr12	102958405	102958405	-	GCAGCA	exonic	ASCL1	.	nonframeshift insertion	ASCL1:NM_004316:exon1:c.161_162insGCAGCA:p.Q62_A63insQQ,	Central hypoventilation syndrome, congenital, Autosomal dominant;Haddad syndrome, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4048	8950.5	47	chr12	102958393	.	CGCAGCAGCAGCA	CGCAGCAGCAGCAGCA,CGCAGCAGCAGCAGCAGCA,CGCAGCAGCA,C	8950.5	.	AC=13,1,1,2;AF=0.310,0.024,0.024,0.048;AN=42;BaseQRankSum=0.594;DP=762;ExcessHet=6.4157;FS=0.543;InbreedingCoeff=-0.2847;MLEAC=13,1,1,2;MLEAF=0.310,0.024,0.024,0.048;MQ=59.99;MQRankSum=0.00;QD=20.72;ReadPosRankSum=0.323;SOR=0.638	GT:AD:DP:GQ:PL	0/1:19,17,0,0,0:36:99:590,0,641,647,692,1339,647,692,1339,1339,647,692,1339,1339,1339	6	1	11	0
chr12	102958403	102958405	GCA	-	exonic	ASCL1	.	nonframeshift deletion	ASCL1:NM_004316:exon1:c.159_161del:p.Q62del,	Central hypoventilation syndrome, congenital, Autosomal dominant;Haddad syndrome, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4048	8950.5	47	chr12	102958393	.	CGCAGCAGCAGCA	CGCAGCAGCAGCAGCA,CGCAGCAGCAGCAGCAGCA,CGCAGCAGCA,C	8950.5	.	AC=13,1,1,2;AF=0.310,0.024,0.024,0.048;AN=42;BaseQRankSum=0.594;DP=762;ExcessHet=6.4157;FS=0.543;InbreedingCoeff=-0.2847;MLEAC=13,1,1,2;MLEAF=0.310,0.024,0.024,0.048;MQ=59.99;MQRankSum=0.00;QD=20.72;ReadPosRankSum=0.323;SOR=0.638	GT:AD:DP:GQ:PL	0/1:19,17,0,0,0:36:99:590,0,641,647,692,1339,647,692,1339,1339,647,692,1339,1339,1339	6	1	11	0
chr12	102958394	102958405	GCAGCAGCAGCA	-	exonic	ASCL1	.	nonframeshift deletion	ASCL1:NM_004316:exon1:c.150_161del:p.Q59_Q62del,	Central hypoventilation syndrome, congenital, Autosomal dominant;Haddad syndrome, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	254390	not_specified|Phenylketonuria	MedGen:CN169374|MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:716	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1416400102	0.0008	0.0008	0.0007	0.0008	0.0025	0.0007	0.0007	0.0021	0.0019	0.0025	0.0008	0.0058	0.0008	0	0.0012	0.0005	0.0013	0.0019	0.0015	0.0015	0.0013	0.0016	0.0029	0.0013	0.0013	0.0025	0.0023	0.0029	0	0.0012	0.0069	0.0004	0	0	0.0007	0.0014	0.0019	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4048	8950.5	47	chr12	102958393	.	CGCAGCAGCAGCA	CGCAGCAGCAGCAGCA,CGCAGCAGCAGCAGCAGCA,CGCAGCAGCA,C	8950.5	.	AC=13,1,1,2;AF=0.310,0.024,0.024,0.048;AN=42;BaseQRankSum=0.594;DP=762;ExcessHet=6.4157;FS=0.543;InbreedingCoeff=-0.2847;MLEAC=13,1,1,2;MLEAF=0.310,0.024,0.024,0.048;MQ=59.99;MQRankSum=0.00;QD=20.72;ReadPosRankSum=0.323;SOR=0.638	GT:AD:DP:GQ:PL	0/1:19,17,0,0,0:36:99:590,0,641,647,692,1339,647,692,1339,1339,647,692,1339,1339,1339	6	1	11	0
chr12	103985730	103985730	-	GG	splicing	TDG	NM_001363612:exon8:c.661+2->GG;NM_003211:exon9:c.1090+2->GG	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0011	0.0014	0.0003	0.0006	0.0002	0.0008	0.0033	0.0030	3.84e-05	1	26028	rs749286024	0.0004	0.0057	0.0003	0.0004	0.0020	0.0004	0.0003	0.0017	0.0016	0.0007	0.0020	0.0004	0.0006	0.0007	0.0004	0.0002	0.0004	0.0014	4.013e-05	0.0061	5.227e-05	2.741e-05	9.835e-05	1.741e-05	1.146e-05	3.292e-05	1.943e-05	9.835e-05	0	0	0	0	9.669e-05	0	1.492e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2381	4718.56	63	chr12	103985730	.	T	TGGAGTTAAGAGGAG,TGGAGTTAAGAGGAGA,TGG	4718.56	.	AC=2,7,1;AF=0.048,0.167,0.024;AN=42;BaseQRankSum=3.76;DP=1742;ExcessHet=6.1002;FS=6.604;InbreedingCoeff=-0.3125;MLEAC=2,7,1;MLEAF=0.048,0.167,0.024;MQ=56.83;MQRankSum=-7.850e+00;QD=5.90;ReadPosRankSum=-3.934e+00;SOR=1.308	GT:AD:DP:GQ:PGT:PID:PL:PS	0|3:85,0,0,9:94:99:0|1:103985728_A_ATTGAGAGC:120,378,3929,378,3929,3929,0,3551,3551,3524:103985728	11	0	2	0
chr12	108792729	108792729	G	A	exonic	SSH1	.	nonsynonymous SNV	SSH1:NM_001161331:exon13:c.C1483T:p.P495S	.	.	398	1122	2	0	0	2	0.000890472	.	.	2816805	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.78	T	0.037	B	0.017	B	0.511	N	0.999	N	-0.345	N	3.02	T	-0.960	T	0.009	T	0.081	-0.396	2.146	-0.768	-0.105	0.289	10.278	0.019	0.00749653410147	0.0022	0.00239617	0.0022	0.0011	0.0023	0	0.0076	0.0025	0.0067	0.0002	0.0021733	336	154602	rs145141884	0.0022	0.0022	0.0022	0.0022	0.0023	0.0021	0.0021	0.0022	0.0022	0.0004	0.0023	0.0009	0	0.0055	0.0023	0.0023	0.0024	0.0001	0.0022	0.0022	0.0021	0.0023	0.0026	0.0020	0.0019	0.0023	0.0021	0.0009	0	0.0020	0.0006	0	0.0073	0	0.0026	0.0066	0	0.616	0.07354	T	0.822	0.03806	T	0.004	0.20876	B	0.009	0.18140	B	0.511072	0.05147	N	1.326920	0.998663	0.22000	N	-0.345	0.03330	N	2.83	0.10975	T	0.24	0.04533	N	0.117	0.10626	-0.9595	0.39274	T	0.009	0.03271	T	10	0.0030886233	0.00051	T	0.007497	0.19899	T	0.019	0.03383	.	.	0.174091166621	0.17034	0.17653599983893398	0.17572	0.25520024391	0.28107	0.307935208082	0.11595	T	0.044129	0.26721	T	-0.675933	0.00051	T	-0.748323	0.03552	T	0.00152596018502866	0.00015	T	0.639136	0.25234	T	0.023596598	0.01112	0.040761396	0.04479	0.023596598	0.01112	0.040761396	0.04479	-5.047	0.38201	T	.	.	0.074	0.05535	B	.;.;.	.;.;.	0.536393	0.09050	5.833	0.52276849056569552	0.04717	0.30176	0.24014	N	AEFDGBCI	0.070784	0.14064	N	-1.35320825832093	0.03092	0.1375677	-1.24545848471019	0.05198	0.2471169	0.999646368507301	0.41316	0.67177	0.52595	0	0.702456	0.74545	0	0.679469	0.61720	0	0.741806	0.99463	0	.	.	5.46	-0.768	0.10458	0.374000	0.20232	1.165000	0.24581	-0.792000	0.03237	0.844000	0.30348	0.806000	0.26994	0.020000	0.11549	0.6015:0.0:0.3985:0.0	10.278	0.42703	872	0.31118	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1415.98	33	chr12	108792729	.	G	A	1415.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.34;DP=788;ExcessHet=0.0000;FS=2.488;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.23;ReadPosRankSum=1.11;SOR=0.826	GT:AD:DP:GQ:PL	0/1:52,55:107:99:1430,0,1305	20	0	1	0
chr12	111598993	111598993	C	0	exonic	ATXN2	.	.	.	Spinocerebellar ataxia 2, Autosomal dominant	.	265	331	379	543	4	1469	0.688764	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6905	29227.06	33	chr12	111598993	.	C	*,T	29227.06	.	AC=3,29;AF=0.071,0.690;AN=42;BaseQRankSum=-2.220e-01;DP=1084;ExcessHet=0.2067;FS=0.000;InbreedingCoeff=0.2125;MLEAC=3,29;MLEAF=0.071,0.690;MQ=60.00;MQRankSum=0.00;QD=30.73;ReadPosRankSum=-7.290e-01;SOR=0.746	GT:AD:DP:GQ:PGT:PID:PL:PS	2|2:0,0,42:42:99:1|1:111598949_GGCT_G:1612,1612,1612,126,126,0:111598949	2	0	0	0
chr12	118043202	118043202	C	T	exonic	WSB2	.	nonsynonymous SNV	WSB2:NM_001278557:exon3:c.G409A:p.D137N	.	.	427	1051	42	2	0	46	0.0214153	.	.	2816919	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.36	T	0.001	B	0.002	B	0.000	D	0.991	N	0.205	N	0.25	T	-1.076	T	0.078	T	0.146	1.454	10.80	5.1	2.644	2.268	7.604	0.070	0.00669402305542	0.0033	0.00239617	0.0038	0.0009	0.0018	0	0.0003	0.0055	0.0044	0.0039	0.0038357	593	154602	rs113350351	0.0040	0.0040	0.0039	0.0041	0.0182	0.0039	0.0038	0.0154	0.0143	0.0011	0.0024	0.0014	2.519e-05	0.0004	0.0182	0.0043	0.0044	0.0046	0.0033	0.0033	0.0034	0.0031	0.0050	0.0030	0.0029	0.0045	0.0043	0.0009	0.0175	0.0034	0.0003	0	9.411e-05	0.0408	0.0049	0.0085	0.0050	0.252	0.17296	T	0.491	0.12632	T	0.001	0.07471	B	0.002	0.06944	B	0.000045	0.53742	D	0.119854	1	0.24081	N	0.69	0.16971	N	0.21	0.63240	T	-0.16	0.10480	N	0.232	0.26596	-1.0760	0.08144	T	0.078	0.31103	T	10	0.0037802756	0.00070	T	0.006694	0.17671	T	0.070	0.20419	.	.	0.102598925029	0.09809	0.23975596845584812	0.23889	0.596358103577	0.54880	0.495998084545	0.38270	T	0.003968	0.03383	T	-0.480612	0.00733	T	-0.4615	0.26436	T	0.0266200910504644	0.01491	T	0.881612	0.60121	D	0.04471084	0.07193	0.03739401	0.03382	0.04471084	0.07192	0.03739401	0.03382	-4.579	0.31907	T	.	.	0.078	0.11654	B	.;.;.;.	.;.;.;.	3.233164	0.44098	21.9	0.99325207477311128	0.59546	0.32936	0.24707	N	AEFDBI	0.109280	0.21710	N	-0.299151625837231	0.29182	1.615994	-0.102068000330382	0.35308	2.041103	0.110898214784496	0.16645	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.1	5.1	0.68917	1.885000	0.39312	5.978000	0.52118	0.599000	0.40250	0.018000	0.19461	1.000000	0.68203	0.844000	0.39860	0.0:0.8278:0.0:0.1722	7.604	0.27257	958	0.09170	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	4752.11	34	chr12	118043202	.	C	T	4752.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-3.520e-01;DP=1105;ExcessHet=0.1072;FS=0.375;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=12.67;ReadPosRankSum=1.000e-03;SOR=0.672	GT:AD:DP:GQ:PL	0/1:93,91:184:99:2280,0,2334	19	0	2	0
chr12	121240525	121240525	-	TT	exonic	CAMKK2	.	frameshift insertion	CAMKK2:NM_001270486:exon16:c.1613_1614insAA:p.G539Kfs*6,	.	.	10	63	26	1	126	154	0.181818	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4048	8445.03	54	chr12	121240524	.	CT	CTTT,CTTTT,CTTTTT,C,CTTTTTT	8445.03	.	AC=2,10,1,5,1;AF=0.048,0.238,0.024,0.119,0.024;AN=42;BaseQRankSum=-2.880e-01;DP=1301;ExcessHet=11.7413;FS=4.240;InbreedingCoeff=-0.4466;MLEAC=2,10,1,5,1;MLEAF=0.048,0.238,0.024,0.119,0.024;MQ=60.00;MQRankSum=0.00;QD=9.97;ReadPosRankSum=0.156;SOR=1.006	GT:AD:DP:GQ:PL	0/2:32,0,17,0,9,0:58:99:445,583,1671,0,1147,1345,583,1671,1147,1671,355,1199,572,1199,1141,583,1671,1147,1671,1199,1671	4	0	0	0
chr12	121240525	121240525	-	TTT	exonic	CAMKK2	.	nonframeshift insertion	CAMKK2:NM_001270486:exon16:c.1613_1614insAAA:p.K538_G539insK,	.	.	10	63	26	1	126	154	0.181818	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4048	8445.03	54	chr12	121240524	.	CT	CTTT,CTTTT,CTTTTT,C,CTTTTTT	8445.03	.	AC=2,10,1,5,1;AF=0.048,0.238,0.024,0.119,0.024;AN=42;BaseQRankSum=-2.880e-01;DP=1301;ExcessHet=11.7413;FS=4.240;InbreedingCoeff=-0.4466;MLEAC=2,10,1,5,1;MLEAF=0.048,0.238,0.024,0.119,0.024;MQ=60.00;MQRankSum=0.00;QD=9.97;ReadPosRankSum=0.156;SOR=1.006	GT:AD:DP:GQ:PL	0/2:32,0,17,0,9,0:58:99:445,583,1671,0,1147,1345,583,1671,1147,1671,355,1199,572,1199,1141,583,1671,1147,1671,1199,1671	4	0	0	0
chr12	121240525	121240525	-	TTTT	exonic	CAMKK2	.	frameshift insertion	CAMKK2:NM_001270486:exon16:c.1613_1614insAAAA:p.G539Kfs*4,	.	.	10	63	26	1	126	154	0.181818	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4048	8445.03	54	chr12	121240524	.	CT	CTTT,CTTTT,CTTTTT,C,CTTTTTT	8445.03	.	AC=2,10,1,5,1;AF=0.048,0.238,0.024,0.119,0.024;AN=42;BaseQRankSum=-2.880e-01;DP=1301;ExcessHet=11.7413;FS=4.240;InbreedingCoeff=-0.4466;MLEAC=2,10,1,5,1;MLEAF=0.048,0.238,0.024,0.119,0.024;MQ=60.00;MQRankSum=0.00;QD=9.97;ReadPosRankSum=0.156;SOR=1.006	GT:AD:DP:GQ:PL	0/2:32,0,17,0,9,0:58:99:445,583,1671,0,1147,1345,583,1671,1147,1671,355,1199,572,1199,1141,583,1671,1147,1671,1199,1671	4	0	0	0
chr12	121240525	121240525	-	TTTTT	exonic	CAMKK2	.	frameshift insertion	CAMKK2:NM_001270486:exon16:c.1613_1614insAAAAA:p.G539Kfs*7,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4048	8445.03	54	chr12	121240524	.	CT	CTTT,CTTTT,CTTTTT,C,CTTTTTT	8445.03	.	AC=2,10,1,5,1;AF=0.048,0.238,0.024,0.119,0.024;AN=42;BaseQRankSum=-2.880e-01;DP=1301;ExcessHet=11.7413;FS=4.240;InbreedingCoeff=-0.4466;MLEAC=2,10,1,5,1;MLEAF=0.048,0.238,0.024,0.119,0.024;MQ=60.00;MQRankSum=0.00;QD=9.97;ReadPosRankSum=0.156;SOR=1.006	GT:AD:DP:GQ:PL	0/2:32,0,17,0,9,0:58:99:445,583,1671,0,1147,1345,583,1671,1147,1671,355,1199,572,1199,1141,583,1671,1147,1671,1199,1671	4	0	0	0
chr12	124402521	124402521	-	GCTGCT	exonic	NCOR2	.	nonframeshift insertion	NCOR2:NM_001077261:exon16:c.1519_1520insAGCAGC:p.Q509_P510insQQ	.	.	0	15	9	3	199	214	0.333333	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6667	32294.49	39	chr12	124402512	.	GGCTGCTGCT	GGCTGCTGCTGCTGCT,GGCTGCTGCTGCT,GGCTGCTGCTGCTGCTGCTGCT,G	32294.49	.	AC=7,20,5,1;AF=0.167,0.476,0.119,0.024;AN=42;BaseQRankSum=0.305;DP=1759;ExcessHet=4.7172;FS=0.000;InbreedingCoeff=-0.2727;MLEAC=7,20,5,1;MLEAF=0.167,0.476,0.119,0.024;MQ=59.96;MQRankSum=0.00;QD=28.20;ReadPosRankSum=0.518;SOR=0.645	GT:AD:DP:GQ:PL	2/3:2,0,31,28,0:65:99:2505,2413,2588,1243,1310,1226,1104,1281,0,1178,2413,2588,1310,1281,2588	0	1	2	0
chr12	124402521	124402521	-	GCT	exonic	NCOR2	.	nonframeshift insertion	NCOR2:NM_001077261:exon16:c.1519_1520insAGC:p.Q509_P510insQ	.	.	0	15	9	3	199	214	0.333333	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6667	32294.49	39	chr12	124402512	.	GGCTGCTGCT	GGCTGCTGCTGCTGCT,GGCTGCTGCTGCT,GGCTGCTGCTGCTGCTGCTGCT,G	32294.49	.	AC=7,20,5,1;AF=0.167,0.476,0.119,0.024;AN=42;BaseQRankSum=0.305;DP=1759;ExcessHet=4.7172;FS=0.000;InbreedingCoeff=-0.2727;MLEAC=7,20,5,1;MLEAF=0.167,0.476,0.119,0.024;MQ=59.96;MQRankSum=0.00;QD=28.20;ReadPosRankSum=0.518;SOR=0.645	GT:AD:DP:GQ:PL	2/3:2,0,31,28,0:65:99:2505,2413,2588,1243,1310,1226,1104,1281,0,1178,2413,2588,1310,1281,2588	0	1	2	0
chr12	124402521	124402521	-	GCTGCTGCTGCT	exonic	NCOR2	.	nonframeshift insertion	NCOR2:NM_001077261:exon16:c.1519_1520insAGCAGCAGCAGC:p.Q509_P510insQQQQ	.	.	0	15	9	3	199	214	0.333333	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6667	32294.49	39	chr12	124402512	.	GGCTGCTGCT	GGCTGCTGCTGCTGCT,GGCTGCTGCTGCT,GGCTGCTGCTGCTGCTGCTGCT,G	32294.49	.	AC=7,20,5,1;AF=0.167,0.476,0.119,0.024;AN=42;BaseQRankSum=0.305;DP=1759;ExcessHet=4.7172;FS=0.000;InbreedingCoeff=-0.2727;MLEAC=7,20,5,1;MLEAF=0.167,0.476,0.119,0.024;MQ=59.96;MQRankSum=0.00;QD=28.20;ReadPosRankSum=0.518;SOR=0.645	GT:AD:DP:GQ:PL	2/3:2,0,31,28,0:65:99:2505,2413,2588,1243,1310,1226,1104,1281,0,1178,2413,2588,1310,1281,2588	0	1	2	0
chr12	124402513	124402521	GCTGCTGCT	-	exonic	NCOR2	.	nonframeshift deletion	NCOR2:NM_001077261:exon16:c.1520_1528del:p.Q507_Q509del	.	.	0	15	9	3	199	214	0.333333	.	.	3196719	NCOR2-related_disorder	.	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0221645	0.0099	0.0012	0.0160	0.0761	0	0.0011	0.0117	0.0168	0.0047283	731	154602	rs559681337	0.0048	0.0047	0.0044	0.0052	0.0945	0.0047	0.0047	0.0918	0.0908	0.0009	0.0120	0.0002	0.0945	0.0004	0.0020	0.0006	0.0064	0.0186	0.0046	0.0047	0.0039	0.0054	0.0687	0.0044	0.0042	0.0627	0.0604	0.0012	0	0.0060	0	0.0687	0.0008	0	0.0010	0.0048	0.0268	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6667	32294.49	39	chr12	124402512	.	GGCTGCTGCT	GGCTGCTGCTGCTGCT,GGCTGCTGCTGCT,GGCTGCTGCTGCTGCTGCTGCT,G	32294.49	.	AC=7,20,5,1;AF=0.167,0.476,0.119,0.024;AN=42;BaseQRankSum=0.305;DP=1759;ExcessHet=4.7172;FS=0.000;InbreedingCoeff=-0.2727;MLEAC=7,20,5,1;MLEAF=0.167,0.476,0.119,0.024;MQ=59.96;MQRankSum=0.00;QD=28.20;ReadPosRankSum=0.518;SOR=0.645	GT:AD:DP:GQ:PL	2/3:2,0,31,28,0:65:99:2505,2413,2588,1243,1310,1226,1104,1281,0,1178,2413,2588,1310,1281,2588	0	1	2	0
chr12	125519543	125519543	T	C	exonic	TMEM132B	.	nonsynonymous SNV	TMEM132B:NM_001366854:exon4:c.T1211C:p.I404T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.39	T	0.003	B	0.006	B	0.098	U	1.000	N	0	N	2.62	T	-0.993	T	0.015	T	0.06	0.825	8.323	-5.54	-0.364	-0.239	2.945	0.016	0.00395517199691	8.3e-05	.	3.312e-05	0	0	0	0	5.994e-05	0	0	2.59e-05	4	154602	rs373875024	4.241e-05	4.241e-05	3.811e-05	4.675e-05	5.216e-05	3.376e-05	3.065e-05	4.091e-05	3.741e-05	0	2.236e-05	0	0	0	0	5.216e-05	3.312e-05	1.159e-05	1.972e-05	1.97e-05	3.855e-05	0	2.94e-05	5.24e-06	2.45e-06	4.88e-06	1.83e-06	2.413e-05	0	0	0	0	0	0	2.94e-05	0	0	0.371	0.11514	T	0.357	0.17115	T	0.003	0.11197	B	0.006	0.12133	B	0.098190	0.02522	U	3.330090	1	0.08975	N	0.345	0.11182	N	2.62	0.12988	T	0.97	0.01467	N	0.205	0.22742	-0.9926	0.31933	T	0.015	0.05946	T	10	0.031970024	0.01340	T	0.003955	0.09337	T	0.016	0.02506	.	.	0.0806252709748	0.07271	0.29373704644857	0.29286	0.312351523902	0.33537	0.300007760525	0.10402	T	0.017951	0.14556	T	-0.409048	0.02017	T	-0.761699	0.03052	T	0.0336042419075966	0.02571	T	0.665433	0.27458	T	0.049560156	0.08819	0.04460022	0.05816	0.049560156	0.08819	0.04460022	0.05816	-2.159	0.03846	T	.	.	0.050	0.00133	B	.	.	0.769096	0.11391	8.003	0.78005762392280487	0.12115	0.03756	0.09064	N	AEFGBCI	0.037157	0.05064	N	-1.15555404233323	0.05689	0.2600033	-1.15984086535435	0.06592	0.3178695	0.243469159317833	0.18598	0.706298	0.61202	0	0.588015	0.36545	0	0.709663	0.75317	0	0.620846	0.47308	0	.	.	4.94	-5.54	0.02343	-0.224000	0.09169	-4.582000	0.02084	0.647000	0.52776	0.000000	0.06391	0.000000	0.08366	0.984000	0.60418	0.1798:0.1758:0.4814:0.163	2.945	0.05484	922	0.19044	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1261.98	35	chr12	125519543	.	T	C	1261.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.058e+00;DP=861;ExcessHet=0.0000;FS=7.323;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.85;ReadPosRankSum=-1.225e+00;SOR=0.335	GT:AD:DP:GQ:PL	0/1:34,51:85:99:1276,0,893	20	0	1	0
chr12	125654210	125654210	C	A	exonic	TMEM132B	.	nonsynonymous SNV	TMEM132B:NM_001286219:exon5:c.C1273A:p.L425M	.	.	433	1032	57	0	0	57	0.0268741	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	1.0	D	0.996	D	0.000	D	1.000	D	1.855	L	1.72	T	-1.049	T	0.084	T	0.61	2.968	15.89	-0.724	-0.037	0.044	10.385	0.165	.	0.0062	0.0115815	0.0115	0.0015	0.0079	0.0001	0.0006	0.0072	0.0111	0.0476	0.0106079	1640	154602	rs61940807	0.0094	0.0094	0.0083	0.0105	0.0426	0.0092	0.0092	0.0414	0.0410	0.0016	0.0070	0.0057	7.557e-05	0.0007	0.0161	0.0079	0.0092	0.0426	0.0064	0.0064	0.0060	0.0068	0.0422	0.0060	0.0059	0.0375	0.0357	0.0014	0.0033	0.0081	0.0043	0.0002	9.413e-05	0.0068	0.0081	0.0071	0.0422	0.011	0.55530	D	0.011	0.64786	D	1.0	0.90584	D	0.996	0.84481	D	0.000254	0.46924	D	0.000000	0.999782	0.49076	D	2.995	0.85803	M	1.72	0.26588	T	-1.69	0.40274	N	0.133	0.18920	-1.0491	0.14649	T	0.084	0.32900	T	10	0.0061185956	0.00138	T	.	.	.	0.165	0.42395	.	.	.	.	0.7177398300703923	0.71716	0.578337520646	0.53735	0.835967540741	0.87479	D	0.233202	0.59995	T	-0.408305	0.02040	T	-0.326422	0.41865	T	0.0753760093020155	0.09385	T	0.772923	0.48860	T	0.15482831	0.35023	0.1645731	0.38116	0.15482831	0.35023	0.1645731	0.38115	-8.98	0.67568	D	.	.	0.158	0.35034	B	.;.	.;.	1.996945	0.25370	16.74	0.99494354494424719	0.67630	0.35415	0.25296	N	AEFI	0.202736	0.32930	N	-0.00257369934828527	0.41739	2.502031	-0.172327550528987	0.32559	1.853576	1.20154442700449E-4	0.05269	0.706548	0.73137	0	0.573888	0.26702	0	0.724815	0.87919	0	0.564101	0.26826	0	.	.	5.43	-0.724	0.10613	0.058000	0.14178	-0.197000	0.10982	0.599000	0.40250	0.049000	0.21372	0.000000	0.08366	0.975000	0.56047	0.0:0.1871:0.0:0.8129	10.385	0.43319	936	0.14734	Transmembrane protein TMEM132, C-terminal;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	2128.98	37	chr12	125654210	.	C	A	2128.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.001e+00;DP=906;ExcessHet=0.0000;FS=1.699;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.19;ReadPosRankSum=0.439;SOR=0.576	GT:AD:DP:GQ:PL	0/1:116,93:209:99:2143,0,3072	20	0	1	0
chr12	131136113	131136113	G	A	exonic	ADGRD1	.	nonsynonymous SNV	ADGRD1:NM_198827:exon22:c.G2344A:p.G782S	.	.	412	1109	1	0	0	1	0.000450653	.	.	2218844	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.77	T	0.028	B	0.015	B	0.187	N	1.000	N	-0.625	N	1.25	T	-1.020	T	0.069	T	0.31	0.363	5.972	0.289	-0.002	0.903	4.939	0.077	0.0184898861911	.	.	5.81e-05	0.0002	0	0.0005	0	0	0	6.078e-05	4.53e-05	7	154602	rs574429603	3.694e-05	3.762e-05	3.267e-05	4.125e-05	0.0002	2.894e-05	2.592e-05	9.928e-05	7.224e-05	8.961e-05	0	0	0.0002	0	0	3.327e-05	3.312e-05	4.637e-05	8.532e-05	8.529e-05	0.0001	5.369e-05	0.0014	4.952e-05	3.958e-05	0.0006	0.0005	0.0001	0	0	0	0.0014	0	0	1.47e-05	0	0	0.444	0.20607	T	0.995	0.05805	T	0.027	0.19556	B	0.015	0.17295	B	0.187056	0.03223	N	1.797290	1	0.08975	N	.	.	.	0.17	0.60485	T	0.68	0.02228	N	0.116	0.17553	-1.0201	0.23682	T	0.069	0.28247	T	10	0.025728077	0.00758	T	0.01849	0.40571	T	0.077	0.22490	.	.	0.0920862733494	0.08535	0.13067633433681025	0.12992	0.164297349739	0.18538	0.308208823204	0.11637	T	0.013961	0.11978	T	-0.365124	0.03849	T	-0.43225	0.29680	T	0.00642837033967065	0.00072	T	0.70513	0.31558	T	0.033633277	0.03621	0.034200866	0.02445	0.033633277	0.03621	0.034200866	0.02445	-1.716	0.02271	T	.	.	0.063	0.01512	B	.;.;.;.	.;.;.;.	0.537947	0.09066	5.848	0.83429557146573063	0.14721	.	.	.	.	0.081435	0.16478	N	-1.24591846329012	0.04354	0.1963267	-1.2081378207077	0.05779	0.2762856	1.20032167872601E-5	0.02871	0.638212	0.43195	0	0.670034	0.63936	0	0.578056	0.29568	0	0.564101	0.26826	0	.	.	4.6	0.289	0.14974	1.198000	0.31831	0.839000	0.22025	0.618000	0.50648	0.111000	0.23011	0.000000	0.08366	0.005000	0.06747	0.306:0.1515:0.5425:0.0	4.939	0.13309	988	0.01987	GPCR, family 2-like;.;GPCR, family 2-like;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1204.98	49	chr12	131136113	.	G	A	1204.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.45;DP=1207;ExcessHet=0.0000;FS=4.924;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.59;ReadPosRankSum=-7.310e-01;SOR=0.367	GT:AD:DP:GQ:PL	0/1:56,48:104:99:1219,0,1421	20	0	1	0
chr12	132148891	132149110	CCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCCTACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCCTACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCCTACCACACCCCTAATCC	-	exonic	NOC4L	.	frameshift deletion	NOC4L:NM_024078:exon9:c.897_901del:p.D299Efs*25,	.	.	422	945	57	36	62	191	0.063893	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0040	0.0042	0.0039	0.0041	0.0054	0.0037	0.0036	0.0045	0.0041	0.0042	0.0068	0.0054	0.0069	0.0014	0.0029	0.0072	0.0037	0.0095	0.0013	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4524	21208.18	31	chr12	132148890	.	ACCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCCTACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCCTACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCCTACCACACCCCTAATCC	ACCTCGGTGAGTGCCGCCGCCTCACTCCTACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCCTACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCCTACCACACCCCTAATCC,ACCTCGGTGAGTGCCGCCGCCTCACTCCTACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCCTACCACACCCCTAATCC,A,ACCTCGGTGAGTGCCGCCGCCTCACTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCCTACCACACCCCTAATCC	21208.18	.	AC=13,7,1,1;AF=0.310,0.167,0.024,0.024;AN=42;BaseQRankSum=0.920;DP=1350;ExcessHet=3.4384;FS=1.805;InbreedingCoeff=-0.1455;MLEAC=13,7,1,1;MLEAF=0.310,0.167,0.024,0.024;MQ=59.50;MQRankSum=-2.060e-01;QD=21.38;ReadPosRankSum=-1.910e-01;SOR=0.840	GT:AD:DP:GQ:PGT:PID:PL:PS	0|3:39,0,0,26,0:65:99:0|1:132148890_ACCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCCTACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCCTACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCCTACCACACCCCTAATCC_A:660,778,2345,778,2345,2345,0,1567,1567,1502,778,2345,2345,1567,2345:132148890	4	2	6	0
chr13	19824950	19824950	T	C	exonic	ZMYM5	.	nonsynonymous SNV	ZMYM5:NM_001142684:exon8:c.A1537G:p.I513V,	.	.	433	1085	3	1	0	5	0.00229885	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.31	T	0.0	B	0.0	B	0.061	N	1.000	N	1.39	L	2.39	T	-1.031	T	0.025	T	0.038	-0.389	2.177	-4.26	-1.097	-2.221	5.724	0.008	0.00117600579787	.	0.000199681	3.289e-05	0.0001	0	0	0.0002	2.023e-05	0	0	2.59e-05	4	154602	rs545110086	1.154e-05	1.026e-05	1.144e-05	1.165e-05	0.0002	6.7e-06	5.24e-06	5.31e-06	3.87e-06	3.804e-05	0	0	0	0	0.0002	1.05e-05	2.277e-05	1.208e-05	1.969e-05	1.968e-05	2.569e-05	1.343e-05	4.81e-05	5.24e-06	2.45e-06	7.97e-06	2.98e-06	4.81e-05	0	0	0	0	0	0	1.47e-05	0	0	0.462	0.08685	T	0.419	0.14326	T	0.0	0.02946	B	0.0	0.01387	B	0.061233	0.22188	N	0.468967	1	0.08975	N	0.805	0.20218	L	2.39	0.15724	T	0.14	0.06026	N	0.018	0.00252	-1.0311	0.20099	T	0.025	0.10598	T	10	0.036108524	0.01893	T	0.001176	0.01484	T	0.008	0.00669	0.25	0.18757	0.0401082797425	0.02173	.	.	.	.	0.30522865057	0.11186	T	0.005366	0.14518	T	-0.58829	0.00172	T	-0.846146	0.01010	T	0.00957266800105572	0.00124	T	0.277372	0.04781	T	0.018683542	0.00391	0.025333714	0.00574	0.018683542	0.00391	0.025333714	0.00574	-3.054	0.10775	T	.	.	0.060	0.00904	B	.;.	.;.	-0.397750	0.02222	0.224	0.50100476631501911	0.04325	0.00222	0.01252	N	AEFDBI	0.015971	0.00331	N	-1.19915633273981	0.05014	0.2275657	-1.3021320916165	0.04403	0.2075931	0.0357733625486678	0.14215	0.615465	0.37627	0	0.653731	0.59785	0	0.658983	0.55881	0	0.635551	0.53088	0	.	.	2.62	-4.26	0.03497	-1.736000	0.01944	-6.245000	0.01453	-0.274000	0.06627	0.000000	0.06391	0.000000	0.08366	0.339000	0.25409	0.1828:0.6116:0.0:0.2056	5.724	0.17272	917	0.20147	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1599.98	38	chr13	19824950	.	T	C	1599.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.546e+00;DP=915;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.45;ReadPosRankSum=-1.790e-01;SOR=0.700	GT:AD:DP:GQ:PL	0/1:54,65:119:99:1614,0,1380	20	0	1	0
chr13	20189125	20189125	C	T	exonic	GJB2	.	nonsynonymous SNV	GJB2:NM_004004:exon2:c.G457A:p.V153I,	Bart-Pumphrey syndrome, Autosomal dominant;Deafness, autosomal dominant 3A, Autosomal dominant;Deafness, autosomal recessive 1A, Autosomal recessive, Digenic dominant;Hystrix-like ichthyosis with deafness, Autosomal dominant;Keratitis-ichthyosis-deafness syndrome, Autosomal dominant;Keratoderma, palmoplantar, with deafness, Autosomal dominant;Vohwinkel syndrome, Autosomal dominant	YES	0	1428	89	5	0	99	0.0335025	.	.	53921	Autosomal_dominant_nonsyndromic_hearing_loss_3A|Autosomal_recessive_nonsyndromic_hearing_loss_1A|Ichthyosis,_hystrix-like,_with_hearing_loss|Nonsyndromic_genetic_hearing_loss|not_specified|Mutilating_keratoderma|Palmoplantar_keratoderma-deafness_syndrome|Knuckle_pads,_deafness_AND_leukonychia_syndrome|Autosomal_dominant_keratitis-ichthyosis-hearing_loss_syndrome|X-linked_mixed_hearing_loss_with_perilymphatic_gusher|not_provided|Hearing_loss,_autosomal_recessive	MONDO:MONDO:0011103,MedGen:C2675750,OMIM:601544,Orphanet:90635|MONDO:MONDO:0009076,MedGen:C2673759,OMIM:220290,Orphanet:90636|MONDO:MONDO:0011245,MedGen:C1865234,OMIM:602540,Orphanet:477|MONDO:MONDO:0019497,MedGen:C5680182,Orphanet:87884|MedGen:CN169374|MONDO:MONDO:0007422,MedGen:C0265964,OMIM:124500,Orphanet:494|MONDO:MONDO:0007852,MedGen:C1835672,OMIM:148350,Orphanet:2202|MONDO:MONDO:0007866,MedGen:C0266004,OMIM:149200,Orphanet:2698|MONDO:MONDO:0007850,MedGen:C0265336,OMIM:148210,Orphanet:477|MONDO:MONDO:0010576,MedGen:C1844678,OMIM:304400,Orphanet:383|MedGen:C3661900|MONDO:MONDO:0019588,MedGen:C1846647,OMIM:607197,OMIM:PS220290,Orphanet:90635,Orphanet:90636	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	1	T	0.003	B	0.007	B	0.003	N	0.816	D	0.035	N	-3.69	D	-0.190	T	0.500	T	0.231	-1.133	0.116	5.47	2.723	0.584	9.616	0.384	.	0.0022	0.0131789	0.0106	0.0003	0.0021	0.0001	0.0027	0.0045	0.0133	0.0559	0.0093789	1450	154602	rs111033186	0.0056	0.0056	0.0039	0.0073	0.0532	0.0055	0.0055	0.0519	0.0514	0.0004	0.0015	0.0125	0.0002	0.0024	0.0130	0.0023	0.0065	0.0532	0.0041	0.0041	0.0033	0.0049	0.0537	0.0038	0.0037	0.0483	0.0463	0.0002	0	0.0018	0.0112	0.0002	0.0011	0.0068	0.0039	0.0024	0.0537	1.0	0.00964	T	1.0	0.01155	T	0.003	0.11197	B	0.007	0.12992	B	0.002985	0.35606	N	0.194247	0.81569	0.34703	D	-0.305	0.03614	N	-3.69	0.95317	D	0.21	0.04776	N	0.037	0.01347	-0.1897	0.77935	T	0.500	0.81081	T	10	0.0035775304	0.00065	T	.	.	.	0.384	0.70112	.	.	.	.	0.7986003561244597	0.79813	0.0344876997802	0.03621	0.396479845047	0.24579	T	0.514834	0.82919	D	-0.343221	0.05168	T	-0.22706	0.52055	T	0.00172557914567628	0.00018	T	0.775922	0.40781	T	0.118389055	0.27895	0.07755717	0.17290	0.15799402	0.35569	0.084154546	0.19337	-2.737	0.07619	T	0.08005930382270487	0.04003	0.074	0.05188	B	.;.;.	.;.;.	2.535416	0.32792	19.15	0.75964087230707467	0.11280	0.42497	0.26891	N	AEFBHCI	0.189679	0.31693	N	-0.689546288893229	0.16319	0.8303233	-0.521671695966085	0.21565	1.167199	0.999999795805695	0.74766	0.59774	0.34471	0	0.61073	0.52368	0	0.61531	0.40942	0	0.63947	0.58350	0	.	.	5.47	5.47	0.80345	0.240000	0.17822	6.006000	0.52567	0.599000	0.40250	0.001000	0.13787	1.000000	0.68203	0.271000	0.23793	0.0:0.7829:0.1429:0.0743	9.616	0.38854	682	0.59757	Connexin, N-terminal|Gap junction protein, cysteine-rich domain;Connexin, N-terminal|Gap junction protein, cysteine-rich domain;Connexin, N-terminal|Gap junction protein, cysteine-rich domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.02381	2607.98	39	chr13	20189125	.	C	T	2607.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.04;DP=1069;ExcessHet=0.0000;FS=4.844;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.85;ReadPosRankSum=-1.473e+00;SOR=0.496	GT:AD:DP:GQ:PL	0/1:108,95:203:99:2622,0,2768	20	0	1	0
chr13	21155813	21155813	-	GGAG	splicing	SKA3	NM_145061:exon8:c.1120-2->CTCC	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.943e-05	4.936e-05	2.111e-05	1.784e-05	.	1.242e-05	1.001e-05	.	.	0	0	0	0	0.0004	0	0	0	0	0.0005	0.0005	0.0003	0.0006	0.0022	0.0004	0.0003	0.0012	0.0009	0.0002	0	0.0007	0.0003	0.0006	0.0010	0	0.0004	0.0015	0.0022	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5238	23464.59	54	chr13	21155813	.	T	TA,TAA,TGGAG	23464.59	.	AC=16,16,1;AF=0.381,0.381,0.024;AN=42;BaseQRankSum=-6.120e-01;DP=1495;ExcessHet=0.9430;FS=0.000;InbreedingCoeff=0.0104;MLEAC=16,16,1;MLEAF=0.381,0.381,0.024;MQ=60.00;MQRankSum=0.00;QD=23.19;ReadPosRankSum=0.381;SOR=0.664	GT:AD:DP:GQ:PL	1/1:2,50,0,0:52:99:1260,103,0,1266,150,1314,1266,150,1314,1314	1	1	4	0
chr13	24707062	24707062	T	C	exonic	ATP12A	.	nonsynonymous SNV	ATP12A:NM_001185085:exon16:c.T2227C:p.S743P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.000	D	1.000	D	3.255	M	-3.99	D	1.095	D	0.947	D	0.896	3.442	17.65	5.81	2.211	7.939	14.105	0.929	0.333804210996	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.002	0.79402	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.945	0.84822	M	-3.99	0.96308	D	-4.06	0.74582	D	0.908	0.91736	1.095	0.99435	D	0.947	0.98266	D	10	0.9367523	0.93004	D	0.333804	0.91825	D	0.929	0.98304	0.713	0.84872	0.994451876505	0.99439	0.9228278389614128	0.92259	0.937130021803	0.72070	0.717928290367	0.69745	T	0.960933	0.99497	D	0.52499	0.95031	D	0.516335	0.94958	D	0.997516512870789	0.91741	D	0.90231	0.65919	D	0.84792006	0.87182	0.8671544	0.92670	0.84792006	0.87184	0.8671544	0.92670	-12.049	0.85089	D	.	.	0.991	0.93890	P	.;.	.;.	4.591225	0.72620	25.9	0.99746260534983944	0.83927	0.97236	0.73496	D	AEFDBI	0.952582	0.96816	D	0.78847270037218	0.85380	8.55839	0.688980955570197	0.81542	7.551102	0.99999963291906	0.74766	0.615465	0.37627	0	0.59043	0.45803	0	0.658983	0.55881	0	0.564101	0.26826	0	.	.	5.81	5.81	0.92413	7.917000	0.86906	4.244000	0.42722	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.127000	0.19450	0.0:0.0:0.0:1.0	14.105	0.64614	974	0.05496	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2652.98	43	chr13	24707062	.	T	C	2652.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.008e+00;DP=913;ExcessHet=0.0000;FS=4.065;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.26;ReadPosRankSum=-1.128e+00;SOR=0.991	GT:AD:DP:GQ:PL	0/1:97,103:200:99:2667,0,2504	20	0	1	0
chr13	32311907	32311907	C	A	exonic	ZAR1L	.	nonsynonymous SNV	ZAR1L:NM_001136571:exon3:c.G19T:p.V7F,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	T	0.012	B	0.007	B	0.566	U	1.000	N	1.5	L	.	.	-1.014	T	0.088	T	0.356	1.398	10.61	0.237	0.137	0.121	4.108	0.054	0.0359457174516	.	.	.	.	.	.	.	.	.	.	.	.	.	rs906518845	3.577e-06	4.788e-06	5.646e-06	1.451e-06	0.0009	1.05e-06	7.6e-07	0.0003	0.0002	0	0	0	0	0	0.0009	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.146	0.25055	T	0.055	0.46862	T	0.012	0.16265	B	0.007	0.12992	B	0.565618	0.05449	U	100.696000	1	0.08975	N	2.14	0.59869	M	.	.	.	-5.0	0.82341	D	0.198	0.33469	-1.0140	0.25656	T	0.088	0.33913	T	9	0.07632667	0.11909	T	0.035946	0.56676	D	0.054	0.15330	0.373	0.38503	0.0138822411134	0.00435	0.5494898478969964	0.54874	.	.	0.737766861916	0.72644	T	0.006813	0.06237	T	-0.0961359	0.37062	T	-0.375869	0.36204	T	0.857713520526886	0.50844	D	0.631037	0.24617	T	0.059766404	0.12187	0.05780722	0.10572	0.059766404	0.12186	0.05780722	0.10572	-4.056	0.24639	T	.	.	0.142	0.32637	B	.;.	.;.	1.010447	0.13896	10.45	0.97154979867375091	0.32603	0.04452	0.10056	N	AEFBI	0.052246	0.09307	N	-0.7766179823803	0.13921	0.6893953	-0.805984223334146	0.14351	0.7493748	0.999582745481708	0.40607	0.554377	0.28877	0	0.547309	0.14657	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	4.45	0.237	0.14737	0.172000	0.16518	0.055000	0.14054	0.575000	0.29119	0.050000	0.21411	0.002000	0.18203	0.875000	0.41745	0.2317:0.2411:0.4373:0.0899	4.108	0.09516	867	0.32089	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	553.98	36	chr13	32311907	.	C	A	553.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-9.080e-01;DP=782;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.58;ReadPosRankSum=1.34;SOR=0.705	GT:AD:DP:GQ:PL	0/1:17,21:38:99:568,0,462	20	0	1	0
chr13	32319134	32319134	A	G	exonic	BRCA2	.	nonsynonymous SNV	BRCA2:NM_000059:exon3:c.A125G:p.Y42C,	Fanconi anemia, complementation group D1, Autosomal recessive;Wilms tumor, Autosomal dominant, Somatic mutation	YES	3	1513	6	0	0	6	0.00197889	.	.	46290	Fanconi_anemia_complementation_group_D1|not_provided|not_specified|Hereditary_breast_ovarian_cancer_syndrome|Breast_and/or_ovarian_cancer|Breast-ovarian_cancer,_familial,_susceptibility_to,_2|Hereditary_cancer-predisposing_syndrome|Familial_cancer_of_breast	MONDO:MONDO:0011584,MedGen:C1838457,OMIM:605724,Orphanet:319462|MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,Orphanet:145|MedGen:CN221562|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555,Orphanet:145|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:227535	reviewed_by_expert_panel	Benign	.	.	.	.	.	.	.	.	0.11	T	0.09	B	0.028	B	0.001	D	0.794	D	1.15	L	5.01	T	-0.761	T	0.000	T	0.341	0.088	4.474	0.279	-0.089	0.777	5.119	0.089	0.0876667864048	0.0025	0.000798722	0.0017	0.0002	0.0007	0.0001	0.0018	0.0023	0.0022	0.0017	0.0016494	255	154602	rs4987046	0.0021	0.0021	0.0021	0.0021	0.0024	0.0021	0.0020	0.0022	0.0022	0.0001	0.0012	0.0020	5.04e-05	0.0025	0.0007	0.0023	0.0022	0.0024	0.0015	0.0015	0.0016	0.0014	0.0025	0.0014	0.0013	0.0022	0.0021	0.0005	0	0.0005	0.0029	0	0.0016	0	0.0025	0.0009	0.0010	0.113	0.28772	T	0.107	0.37730	T	.	.	.	.	.	.	0.000515	0.43753	D	0.102378	0.794441	0.34429	D	.	.	.	5.01	0.01308	T	-1.32	0.32991	N	0.307	0.34659	-0.7612	0.57340	T	0.000	0.00039	T	10	0.009805024	0.00220	T	0.087667	0.74982	D	0.089	0.25827	.	.	0.780001080236	0.77797	0.39563112003706724	0.39478	0.0225267285624	0.02270	0.338256061077	0.16177	T	.	.	.	-0.520209	0.00439	T	-0.525878	0.19700	T	0.00183064800998949	0.00019	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.057	0.01348	B	.;.	.;.	0.108942	0.05089	1.624	0.48808984944735467	0.04104	0.76149	0.37326	D	AEBI	0.153756	0.27867	N	-0.980824216039329	0.09013	0.4248764	-0.934800001231078	0.11276	0.5734814	0.999641375194332	0.41316	0.651	0.46895	0	0.601575	0.49859	0	0.670488	0.60580	0	0.683762	0.67416	0	.	.	5.69	0.279	0.14929	0.845000	0.27321	-0.059000	0.12448	-0.768000	0.03469	0.997000	0.40164	0.001000	0.17328	0.143000	0.20056	0.6463:0.0:0.126:0.2277	5.119	0.14184	850	0.35610	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	1	0	1	0	0.02381	1292.98	33	chr13	32319134	.	A	G	1292.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.42;DP=838;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.86;ReadPosRankSum=-2.100e-02;SOR=0.697	GT:AD:DP:GQ:PL	0/1:57,52:109:99:1307,0,1391	20	0	1	0
chr13	38859428	38859428	G	C	exonic	FREM2	.	nonsynonymous SNV	FREM2:NM_207361:exon14:c.G7357C:p.V2453L,	Fraser syndrome, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.951	P	0.409	B	0.000	N	1.000	D	2.865	M	1.88	T	-0.981	T	0.091	T	0.248	3.297	17.08	4.14	0.938	4.903	8.428	0.156	0.0142809241756	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.426e-06	0.0001	5.454e-06	1.377e-06	4.505e-06	1e-06	7.3e-07	1.32e-06	9.6e-07	0	0	0	0	0	0	4.505e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.008	0.58626	D	0.016	0.60972	D	.	.	.	.	.	.	0.000203	0.47681	N	0.139815	0.999998	0.58761	D	.	.	.	1.88	0.23884	T	-1.95	0.45222	N	0.416	0.45615	-0.9811	0.34748	T	0.091	0.34847	T	10	0.29562914	0.47131	T	0.014281	0.34290	T	0.156	0.40720	0.299	0.26522	0.426670027402	0.42282	0.510707213402808	0.50992	0.115962092506	0.13078	0.591294765472	0.51677	T	.	.	.	-0.139472	0.29976	T	-0.438119	0.29019	T	0.881288886070251	0.53134	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.362	0.57361	A	.	.	2.487454	0.32091	18.94	0.98227814918200052	0.39360	0.97595	0.75784	D	AEFBI	0.688535	0.64950	D	0.180157683667661	0.50246	3.21658	0.185006421886382	0.49024	3.110789	0.791277744604143	0.24019	0.706298	0.61202	0	0.573888	0.26702	0	0.709663	0.75317	0	0.564101	0.26826	0	.	.	5.86	4.14	0.47821	5.015000	0.63798	5.657000	0.49204	-0.816000	0.03012	1.000000	0.71638	1.000000	0.68203	0.976000	0.56436	0.063:0.1148:0.7031:0.1191	8.428	0.31901	934	0.15400	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.3571	1573.08	134	chr13	38859428	.	G	C	1573.08	.	AC=15;AF=0.357;AN=42;BaseQRankSum=-4.318e+00;DP=3120;ExcessHet=17.4423;FS=268.600;InbreedingCoeff=-0.5351;MLEAC=15;MLEAF=0.357;MQ=60.00;MQRankSum=0.00;QD=0.70;ReadPosRankSum=0.855;SOR=13.744	GT:AD:DP:GQ:PL	0/1:115,46:170:50:50,0,2217	6	0	15	0
chr13	42299753	42299753	C	T	exonic	AKAP11	.	nonsynonymous SNV	AKAP11:NM_016248:exon8:c.C1007T:p.P336L,	.	.	425	1083	14	0	0	14	0.00642202	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.000	D	1.000	D	1.995	M	0.9	T	-0.598	T	0.262	T	0.829	4.090	21.1	5.44	2.702	7.414	19.622	0.373	0.0830547615661	7.7e-05	.	0.0003	0	0	0	0	0.0005	0.0011	0.0002	0.0002393	37	154602	rs200013198	0.0001	0.0001	8.849e-05	0.0001	0.0019	9.469e-05	8.951e-05	0.0011	0.0008	0	0	0.0028	0	0	0.0019	3.328e-05	0.0003	0.0002	0.0001	0.0001	0.0001	0.0001	0.0002	9.147e-05	7.703e-05	2.848e-05	1.859e-05	2.406e-05	0	0	0.0032	0	0	0.0034	7.354e-05	0.0009	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	2.62	0.76659	M	0.9	0.45248	T	-3.1	0.63554	D	0.813	0.80866	-0.5984	0.64883	T	0.262	0.63350	T	10	0.20259649	0.36385	T	0.083055	0.74032	D	0.373	0.69188	.	.	0.393040851499	0.38920	0.3323643023609089	0.33149	0.312555824409	0.33555	0.714938163757	0.69309	T	0.194663	0.55050	T	-0.0349635	0.46692	T	0.0179776	0.71500	D	0.228416496778648	0.21877	T	0.933407	0.75038	D	0.44380254	0.63646	0.42054585	0.66014	0.44380254	0.63647	0.42054585	0.66014	-4.762	0.34145	T	.	.	0.728	0.74126	P	.	.	4.646740	0.74025	26.1	0.99879125904177124	0.95572	0.98852	0.87708	D	AEFBI	0.859704	0.77742	D	0.822634093487726	0.87498	9.239443	0.810149163810338	0.90490	10.43128	0.999999999997065	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.608884	0.39905	0	0.714379	0.83352	0	.	.	5.44	5.44	0.79348	7.474000	0.80024	7.720000	0.67265	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:1.0:0.0:0.0	19.622	0.95655	695	0.58372	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1880.98	35	chr13	42299753	.	C	T	1880.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.680;DP=1075;ExcessHet=0.0000;FS=0.574;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.40;ReadPosRankSum=-1.573e+00;SOR=0.678	GT:AD:DP:GQ:PL	0/1:90,75:165:99:1895,0,2371	20	0	1	0
chr13	42303097	42303097	G	C	exonic	AKAP11	.	nonsynonymous SNV	AKAP11:NM_016248:exon8:c.G4351C:p.V1451L,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.68	T	0.0	B	0.0	B	0.384	N	1.000	N	-1.1	N	1.03	T	-1.049	T	0.025	T	0.042	-1.565	0.015	-6.75	-1.034	0.234	0.459	0.040	0.00348779331928	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001	0.0058	0.0001	0.0001	0.0004	0.0001	0.0001	0.0001	0.0001	0.0001	2.239e-05	0.0002	0.0001	0	0.0004	0.0002	0.0001	5.842e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.732	0.03787	T	0.652	0.06690	T	0.0	0.02946	B	0.0	0.01387	B	0.384222	0.04439	N	1.329080	1	0.08975	N	-0.695	0.01866	N	1.03	0.40469	T	0.12	0.05604	N	0.01	0.00095	-1.0487	0.14761	T	0.025	0.10553	T	10	0.03053692	0.01181	T	0.003488	0.07908	T	0.040	0.10527	0.282	0.23801	0.174091166621	0.17034	0.08873411500846382	0.08806	0.0437477432083	0.04714	0.247362196445	0.03495	T	0.00156	0.01004	T	-0.357409	0.04279	T	-0.75117	0.03440	T	0.0190869918422606	0.00616	T	0.254375	0.03921	T	0.018132178	0.00335	0.025108913	0.00546	0.018132178	0.00334	0.025108913	0.00545	-2.626	0.06703	T	.	.	0.106	0.19839	B	.	.	-0.851205	0.01010	0.042	0.27875280092314592	0.01405	0.12762	0.17464	N	AEFBCI	0.031390	0.03350	N	-1.67084211627419	0.00950	0.04116467	-1.65714055191059	0.01339	0.06045885	0.999931029354219	0.46732	0.706548	0.73137	0	0.702456	0.74545	0	0.65145	0.50148	0	0.714379	0.83352	0	.	.	5.98	-6.75	0.01575	0.231000	0.17651	-0.238000	0.10617	-0.111000	0.15049	0.000000	0.06391	0.000000	0.08366	0.011000	0.09372	0.2747:0.1624:0.2842:0.2787	0.459	0.00478	675	0.60470	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.5	7061.0	123	chr13	42303097	.	G	C	7061.0	.	AC=20;AF=0.500;AN=40;BaseQRankSum=-4.570e+00;DP=3154;ExcessHet=43.6797;FS=339.584;InbreedingCoeff=-0.9521;MLEAC=21;MLEAF=0.525;MQ=60.00;MQRankSum=0.00;QD=2.48;ReadPosRankSum=0.878;SOR=13.486	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:96,53:149:99:0|1:42303096_G_A:467,0,2018:42303096	0	0	20	1
chr13	44573919	44573919	G	A	exonic	TSC22D1	.	nonsynonymous SNV	TSC22D1:NM_183422:exon1:c.C2156T:p.A719V,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.24	T	0.295	B	0.188	B	0.001	D	1.000	D	0.805	L	1.43	T	-1.087	T	0.065	T	0.334	2.980	15.94	4.77	2.470	8.701	16.951	0.094	0.0132398934628	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.841e-07	6.84e-07	1.361e-06	0	8.993e-07	0	0	.	.	0	0	0	0	0	0	8.993e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.65419	D	0.199	0.27679	T	0.295	0.32424	B	0.188	0.36237	B	0.000628	0.42799	D	0.102898	0.999554	0.81001	D	1.65	0.42232	L	1.43	0.32958	T	-1.27	0.31981	N	0.453	0.49055	-1.0867	0.06102	T	0.065	0.26772	T	10	0.2075544	0.37055	T	0.01324	0.32488	T	0.094	0.27141	0.143	0.04650	0.0675242888579	0.06100	0.5704165735170944	0.56969	0.197175312124	0.22091	0.419720649719	0.27797	T	0.108428	0.42145	T	-0.0676298	0.41704	T	-0.334922	0.40919	T	0.911218762397766	0.56671	D	0.834817	0.50404	T	0.18308887	0.39559	0.18840368	0.42128	0.18308887	0.39559	0.18840368	0.42127	-3.123	0.11563	T	.	.	0.090	0.12512	B	.	.	4.019371	0.59351	24.1	0.99747254019587961	0.84002	0.97207	0.73322	D	AEFDBHCI	0.867202	0.78688	D	0.152106640106375	0.48911	3.09768	0.305725984331292	0.55874	3.750411	0.999999999999999	0.74766	0.722319	0.85440	0	0.958517	0.99986	0	0.67197	0.60751	0	0.735409	0.98432	0	.	.	4.77	4.77	0.60425	9.070000	0.93390	9.836000	0.81892	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:0.0:1.0:0.0	16.951	0.86117	934	0.15400	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2246.98	33	chr13	44573919	.	G	A	2246.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.320;DP=965;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.99;ReadPosRankSum=0.865;SOR=0.739	GT:AD:DP:GQ:PL	0/1:91,82:173:99:2261,0,2358	20	0	1	0
chr13	48459808	48459808	T	C	exonic	RB1	.	nonsynonymous SNV	RB1:NM_000321:exon20:c.T2081C:p.L694P,	Bladder cancer, somatic;Osteosarcoma, somatic;Retinoblastoma, Autosomal dominant, Somatic mutation;Retinoblastoma, trilateral, Autosomal dominant, Somatic mutation;Small cell cancer of the lung, somatic	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.000	D	1.000	D	3.42	M	-3.77	D	1.097	D	0.943	D	0.995	4.463	23.8	5.48	2.086	7.698	15.564	0.976	0.602785562062	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.392e-06	5.093e-05	2.774e-06	0	1.836e-06	2.3e-07	9e-08	3.1e-07	1.1e-07	0	0	0	0	0	0	1.836e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000001	0.62929	D	0.000000	1	0.81001	D	3.345	0.91022	M	-3.77	0.95595	D	-6.07	0.89871	D	0.984	0.99337	1.097	0.99525	D	0.943	0.98136	D	10	0.9566928	0.95037	D	0.602786	0.96508	D	0.976	0.99783	0.78	0.90465	0.995699770876	0.99565	0.980477162488264	0.98038	1.68776258327	0.90085	0.897795319557	0.96192	D	0.975174	0.99754	D	0.560843	0.96253	D	0.567835	0.96194	D	0.999335587024689	0.97004	D	0.909909	0.68110	D	0.9948388	0.99958	0.97334516	0.99602	0.9948388	0.99958	0.97334516	0.99602	-13.406	0.90966	D	0.9398642061341252	0.97687	0.998	0.97486	P	.;.	.;.	5.226627	0.87722	29.3	0.99926600234762908	0.99103	0.97876	0.77794	D	AEFBI	0.964519	0.98666	D	0.915122981473785	0.92480	11.44748	0.844938188139194	0.92718	11.58983	0.999996381698106	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.659464	0.59346	0	0.714379	0.83352	0	.	.	5.48	5.48	0.80675	7.674000	0.83146	7.932000	0.75071	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:0.0:1.0	15.564	0.76018	726	0.54788	Retinoblastoma-associated protein, B-box|Cyclin-like|Cyclin-like;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.2619	1269.87	115	chr13	48459808	.	T	C	1269.87	.	AC=11;AF=0.262;AN=42;BaseQRankSum=-3.482e+00;DP=2175;ExcessHet=7.7275;FS=135.304;InbreedingCoeff=-0.3657;MLEAC=11;MLEAF=0.262;MQ=60.00;MQRankSum=0.00;QD=0.91;ReadPosRankSum=0.896;SOR=12.258	GT:AD:DP:GQ:PL	0/1:83,31:114:75:75,0,1446	10	0	11	0
chr13	69882456	69882456	G	A	exonic	KLHL1	.	nonsynonymous SNV	KLHL1:NM_001286725:exon4:c.C871T:p.L291F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	1.0	D	0.995	D	0.000	D	0.987	D	3.165	M	-0.39	T	0.346	D	0.580	D	0.608	3.858	19.60	5.08	2.520	4.058	18.834	0.426	0.0648284192983	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.012	0.54683	D	0.021	0.63109	D	0.998	0.73220	D	0.992	0.80445	D	0.000036	0.55875	D	0.000000	0.986518	0.40444	D	2.89	0.83701	M	-0.39	0.69158	T	-2.91	0.60982	D	0.547	0.58629	0.346	0.88281	D	0.580	0.84898	D	10	0.5550405	0.64469	D	0.064828	0.69397	D	0.426	0.73372	0.457	0.52265	0.77630264569	0.77424	0.20463235290269857	0.20380	0.210258746393	0.23511	0.712280154228	0.68924	T	0.595999	0.86982	D	0.0531689	0.58749	T	-0.161403	0.58226	T	0.988282024860382	0.78636	D	0.964204	0.86724	D	0.46265322	0.64836	0.37256262	0.62462	0.46265322	0.64837	0.37256262	0.62462	-10.752	0.78280	D	.	.	0.481	0.63722	A	.;.	.;.	5.474448	0.91308	32	0.99901283922638506	0.97275	0.94895	0.62702	D	AEFI	0.697597	0.65555	D	0.812871305168358	0.86905	9.037639	0.740323524884371	0.85433	8.578981	0.985978107960792	0.30982	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.08	5.08	0.68373	3.554000	0.53466	11.664000	0.94021	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:1.0:0.0	18.834	0.92121	907	0.22727	BTB/Kelch-associated|BTB/Kelch-associated;BTB/Kelch-associated|BTB/Kelch-associated	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.375	1218.29	151	chr13	69882456	.	G	A	1218.29	.	AC=15;AF=0.375;AN=40;BaseQRankSum=-2.253e+00;DP=2755;ExcessHet=17.4423;FS=173.681;InbreedingCoeff=-0.5810;MLEAC=15;MLEAF=0.375;MQ=60.00;MQRankSum=0.00;QD=0.68;ReadPosRankSum=0.201;SOR=13.428	GT:AD:DP:GQ:PL	0/1:75,30:105:76:76,0,1189	5	0	15	1
chr13	77618018	77618018	A	G	exonic	SCEL	.	nonsynonymous SNV	SCEL:NM_001160706:exon25:c.A1460G:p.N487S	.	.	412	1103	6	1	0	8	0.00361337	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.63	T	0.571	P	0.163	B	0.337	N	1.000	N	1.825	L	1.46	T	-1.043	T	0.056	T	0.033	1.030	9.209	1.54	0.424	1.130	7.463	0.104	0.00429397487723	0.0032	0.00139776	0.0045	0.0009	0.0010	0	0.0065	0.0063	0.0055	0.0035	0.0045795	708	154602	rs145663548	0.0049	0.0050	0.0050	0.0049	0.0055	0.0048	0.0048	0.0054	0.0054	0.0006	0.0027	0.0011	0	0.0069	0.0035	0.0055	0.0039	0.0031	0.0041	0.0041	0.0044	0.0039	0.0067	0.0039	0.0038	0.0062	0.0060	0.0010	0	0.0038	0.0012	0	0.0049	0	0.0067	0.0024	0.0029	0.025	0.57480	D	0.028	0.56192	D	0.571	0.38591	P	0.163	0.34892	B	0.337008	0.14023	N	0.679388	1	0.08975	N	2.39	0.68882	M	1.46	0.32238	T	-1.37	0.34198	N	0.164	0.17691	-1.0433	0.16324	T	0.056	0.23413	T	10	0.003091246	0.00051	T	0.004294	0.10404	T	0.104	0.29647	.	.	0.224531998449	0.22054	0.45143971070031136	0.45061	0.0467349534079	0.05080	0.327143222094	0.14503	T	0.067987	0.33341	T	-0.633239	0.00091	T	-0.678236	0.07092	T	0.0182409550934166	0.00544	T	0.646135	0.25753	T	0.06605203	0.14177	0.08694028	0.20175	0.06605203	0.14176	0.08694028	0.20175	-4.982	0.36644	T	.	.	0.095	0.14933	B	.;.;.	.;.;.	1.612060	0.20598	14.82	0.920899846336798	0.21439	0.04172	0.09668	N	AEFI	0.045035	0.07317	N	-0.496300644983978	0.22201	1.183811	-0.535518719363126	0.21191	1.145226	0.933631149096815	0.27138	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.35	1.54	0.22290	1.129000	0.30994	2.940000	0.35661	0.756000	0.94297	0.037000	0.20830	0.169000	0.23327	0.995000	0.73285	0.7322:0.0:0.2678:0.0	7.463	0.26476	259	0.89842	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1925.98	104	chr13	77618018	.	A	G	1925.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.779;DP=1825;ExcessHet=0.0000;FS=1.898;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.13;ReadPosRankSum=-1.851e+00;SOR=0.531	GT:AD:DP:GQ:PL	0/1:93,80:173:99:1940,0,2268	20	0	1	0
chr13	99970416	99970416	-	GGC	exonic	ZIC5	.	nonframeshift insertion	ZIC5:NM_033132:exon1:c.1259_1260insGCC:p.P424_A425insP,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs772098205	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	10227.81	36	chr13	99970413	.	TGGC	T,TGGCGGC	10227.81	.	AC=11,3;AF=0.262,0.071;AN=42;BaseQRankSum=0.619;DP=1251;ExcessHet=2.0984;FS=0.000;InbreedingCoeff=-0.0714;MLEAC=11,3;MLEAF=0.262,0.071;MQ=60.00;MQRankSum=0.00;QD=21.22;ReadPosRankSum=0.351;SOR=0.664	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,23,0:23:70:.:.:1015,70,0,1015,70,1015	9	2	7	0
chr13	102618836	102618836	G	A	exonic	TPP2	.	nonsynonymous SNV	TPP2:NM_001330588:exon5:c.G610A:p.E204K	.	.	.	.	.	.	.	.	.	.	.	936326	Evans_syndrome,_immunodeficiency,_and_premature_immunosenescence_associated_with_tripeptidyl-peptidase_II_deficiency	MedGen:CN231723	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.6	T	0.557	P	0.064	B	0.000	D	1.000	D	1.04	L	-2.33	D	-0.268	T	0.441	T	0.477	3.382	17.41	5.69	2.682	7.581	19.813	0.409	0.0644571615191	.	.	3.297e-05	0	0	0	0	4.499e-05	0	6.069e-05	2.59e-05	4	154602	rs759851788	2.132e-05	2.531e-05	1.642e-05	2.628e-05	0.0003	1.528e-05	1.331e-05	7.275e-05	5.592e-05	0	0	0	0	0	0.0003	1.532e-05	1.665e-05	0.0001	1.971e-05	1.97e-05	1.285e-05	2.69e-05	0.0002	5.24e-06	2.45e-06	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.94e-05	0	0.0002	0.189	0.23360	T	0.538	0.09897	T	0.557	0.38282	P	0.064	0.27215	B	0.000083	0.51296	D	0.168937	0.999999	0.58761	D	1.21	0.30464	L	-2.33	0.87910	D	-1.49	0.36385	N	0.424	0.47301	-0.2682	0.75860	T	0.441	0.77890	T	10	0.28983057	0.46564	T	0.064457	0.69281	D	0.409	0.72099	0.554	0.67133	0.419361210318	0.41555	0.6382657579950564	0.63760	0.900146455549	0.70606	0.592943906784	0.51910	T	0.184455	0.53712	T	0.0400844	0.57058	T	-0.0749123	0.65273	T	0.319382503180693	0.25797	T	0.976802	0.91949	D	0.102047496	0.24109	0.17594111	0.40094	0.102047496	0.24109	0.17594111	0.40093	-8.815	0.66499	D	.	.	0.085	0.09965	B	.;.	.;.	3.944466	0.57739	23.9	0.99803104992907909	0.88728	0.98741	0.86258	D	AEFDGBI	0.868347	0.78844	D	0.166028158347269	0.49572	3.156211	0.327310625982648	0.57150	3.879862	0.999999999999787	0.74766	0.732398	0.92422	0	0.724815	0.89359	0	0.724815	0.87919	0	0.727631	0.95156	0	.	.	5.69	5.69	0.88346	7.701000	0.83543	11.736000	0.95093	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.955000	0.50612	0.0:0.0:1.0:0.0	19.813	0.96552	948	0.11499	Peptidase S8/S53 domain|Tripeptidyl-peptidase II domain;Peptidase S8/S53 domain|Tripeptidyl-peptidase II domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1440.98	33	chr13	102618836	.	G	A	1440.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.047;DP=823;ExcessHet=0.0000;FS=4.315;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.53;ReadPosRankSum=-5.410e-01;SOR=1.107	GT:AD:DP:GQ:PL	0/1:64,61:125:99:1455,0,1517	20	0	1	0
chr13	102737376	102737376	T	C	exonic	CCDC168	.	nonsynonymous SNV	CCDC168:NM_001146197:exon4:c.A13321G:p.T4441A,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1349615211	5.004e-06	4.788e-06	1.411e-06	8.697e-06	6.49e-06	2.08e-06	1.34e-06	2.7e-06	1.74e-06	0	0	0	0	0	0	6.49e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.031	0.53788	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.17	0.18103	.	.	.	.	.	.	.	0.07948971	0.12792	T	.	.	.	.	.	.	.	0.0551355673512	0.04727	0.17064589429139118	0.16984	.	.	0.253619462252	0.04158	T	.	.	.	-0.159419	0.26850	T	-0.466771	0.25865	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.117	0.23883	B	.	.	-0.055839	0.03912	0.863	0.49005871855230221	0.04137	0.01285	0.04481	N	AEFGBI	.	.	.	.	.	.	.	.	.	0.999714237900827	0.42101	0.06567	0.01388	0	0.085267	0.02369	0	0.063197	0.01477	0	0.075334	0.01956	0	0.0587091	0.14064	3.22	-5.7	0.02226	-0.774000	0.04790	-1.163000	0.06147	-0.120000	0.14102	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.0:0.1083:0.6531:0.2386	8.284	0.31077	952	0.10565	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	3373.98	63	chr13	102737376	.	T	C	3373.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.487;DP=2090;ExcessHet=0.0000;FS=7.985;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.22;ReadPosRankSum=0.470;SOR=0.554	GT:AD:DP:GQ:PL	0/1:86,122:208:99:3388,0,2231	20	0	1	0
chr13	102737670	102737670	C	G	exonic	CCDC168	.	nonsynonymous SNV	CCDC168:NM_001146197:exon4:c.G13027C:p.V4343L,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.296e-05	0.0009	1.28e-05	1.313e-05	3.19e-05	8.1e-06	6.68e-06	9.68e-06	7.91e-06	3.19e-05	0	0	0	0	0	1.589e-05	0	0	6.741e-06	1.989e-05	0	1.384e-05	1.492e-05	0	0	.	.	0	0	0	0	0	0	0	1.492e-05	0	0	.	.	.	0.044	0.49663	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.155	0.16028	.	.	.	.	.	.	.	0.08621222	0.14631	T	.	.	.	.	.	.	.	0.0806252709748	0.07271	0.08298472189106709	0.08233	.	.	0.344727694988	0.17142	T	.	.	.	-0.118802	0.33320	T	-0.408427	0.32407	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.211	0.43882	B	.	.	-0.018962	0.04151	0.996	0.36670154075650313	0.02372	0.03259	0.08291	N	AEFBI	.	.	.	.	.	.	.	.	.	0.929394545130418	0.26967	0.06567	0.01388	0	0.059962	0.00310	0	0.063197	0.01477	0	0.075334	0.01956	0	0.0516762	0.10602	2.37	-0.837	0.10221	0.258000	0.18156	-2.744000	0.03406	0.581000	0.30040	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.0:0.4159:0.0:0.5841	5.246	0.14815	952	0.10565	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.3125	1289.7	107	chr13	102737670	.	C	G	1289.7	.	AC=10;AF=0.313;AN=32;BaseQRankSum=-5.420e+00;DP=3587;ExcessHet=6.1002;FS=265.418;InbreedingCoeff=-0.4269;MLEAC=12;MLEAF=0.375;MQ=60.00;MQRankSum=0.00;QD=0.67;ReadPosRankSum=1.50;SOR=12.784	GT:AD:DP:GQ:PL	0/1:147,44:191:99:165,0,3493	6	0	10	5
chr13	102738219	102738219	C	G	exonic	CCDC168	.	nonsynonymous SNV	CCDC168:NM_001146197:exon4:c.G12478C:p.V4160L,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.167e-05	0.0022	6.326e-05	3.979e-05	6.248e-05	4.177e-05	3.835e-05	5.038e-05	4.595e-05	0	2.807e-05	0	0	0	0	6.248e-05	3.499e-05	2.541e-05	1.334e-05	2.64e-05	1.303e-05	1.368e-05	1.486e-05	2.22e-06	8.3e-07	.	.	0	0	0	0	0	9.686e-05	0	1.486e-05	0	0	.	.	.	0.068	0.44106	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.18	0.19459	.	.	.	.	.	.	.	0.09865704	0.17852	T	.	.	.	.	.	.	.	0.0806252709748	0.07271	0.022759760475440007	0.02227	.	.	0.381038725376	0.22403	T	.	.	.	-0.129836	0.31521	T	-0.424277	0.30586	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.349	0.56507	A	.	.	0.179806	0.05674	2.123	0.42346026630768363	0.03115	0.07449	0.13466	N	AEFBI	.	.	.	.	.	.	.	.	.	0.921212253802681	0.26663	0.06567	0.01388	0	0.059962	0.00310	0	0.063197	0.01477	0	0.075334	0.01956	0	0.0512898	0.10407	3.08	0.322	0.15131	1.882000	0.39283	-0.398000	0.09429	0.454000	0.21428	0.029000	0.20367	0.000000	0.08366	0.017000	0.10941	0.0:0.5804:0.0:0.4196	5.169	0.14429	951	0.11083	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.2778	1299.96	159	chr13	102738219	.	C	G	1299.96	.	AC=10;AF=0.278;AN=36;BaseQRankSum=-5.434e+00;DP=4225;ExcessHet=6.1002;FS=289.047;InbreedingCoeff=-0.4256;MLEAC=12;MLEAF=0.333;MQ=59.99;MQRankSum=0.00;QD=0.69;ReadPosRankSum=2.11;SOR=11.733	GT:AD:DP:GQ:PL	0/1:161,61:229:99:181,0,3958	8	0	10	3
chr13	102747739	102747739	C	G	exonic	CCDC168	.	nonsynonymous SNV	CCDC168:NM_001146197:exon4:c.G2958C:p.K986N,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	7.525e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	0.50809	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.066	0.03841	.	.	.	.	.	.	.	0.071324736	0.10499	T	.	.	.	.	.	.	.	0.0716867268079	0.06686	0.029755569922110755	0.02924	.	.	0.339609414339	0.16379	T	.	.	.	-0.183105	0.23276	T	-0.500794	0.22266	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.484	0.63867	A	.	.	2.482158	0.32012	18.91	0.76786657609047815	0.11609	0.06593	0.12608	N	AEFGBI	.	.	.	.	.	.	.	.	.	0.974835266602416	0.29578	0.07523	0.01759	0	0.085267	0.02369	0	0.063197	0.01477	0	0.091162	0.02695	0	0.166294	0.28576	4.21	2.49	0.29274	0.370000	0.20166	-0.592000	0.08316	0.599000	0.40250	0.003000	0.16062	0.000000	0.08366	0.974000	0.55675	0.0:0.7826:0.0:0.2174	6.417	0.20924	939	0.14249	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.2727	319.73	161	chr13	102747739	.	C	G,T	319.73	.	AC=3,3;AF=0.136,0.136;AN=22;BaseQRankSum=-5.526e+00;DP=4353;ExcessHet=1.7912;FS=296.348;InbreedingCoeff=-0.3527;MLEAC=4,4;MLEAF=0.182,0.182;MQ=60.00;MQRankSum=0.00;QD=0.21;ReadPosRankSum=1.04;SOR=13.436	GT:AD:DP:GQ:PL	0/2:172,36,67:275:67:67,298,3829,0,3364,3438	5	0	3	10
chr13	110456942	110456942	-	ATCTGCGTGGGACCCCAGGCGTCCGTGGGGCTGATGCCG	exonic	COL4A2-AS2	.	nonframeshift insertion	COL4A2-AS2:NM_001267044:exon5:c.782_783insCGGCATCAGCCCCACGGACGCCTGGGGTCCCACGCAGAT:p.Q261delinsHGISPTDAWGPTQM,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.675e-05	1.751e-05	4.763e-05	4.61e-05	6.815e-05	2.14e-05	1.547e-05	2.59e-05	1.645e-05	0	6.655e-05	0	0	0	0	6.815e-05	0	3.383e-05	0.0016	0.0016	0.0018	0.0013	0.0021	0.0013	0.0012	0.0016	0.0015	0.0012	0	0.0008	0.0017	0.0005	0.0012	0	0.0021	0.0015	0.0013	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	4291.37	62	chr13	110456942	.	C	G,CATCTGCGTGGGACCCCAGGCGTCCGTGGGGCTGATGCCG	4291.37	.	AC=8,1;AF=0.444,0.056;AN=18;BaseQRankSum=2.30;DP=1158;ExcessHet=7.4688;FS=8.528;InbreedingCoeff=-0.4044;MLEAC=13,2;MLEAF=0.722,0.111;MQ=48.92;MQRankSum=2.86;QD=7.68;ReadPosRankSum=-4.184e+00;SOR=1.261	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:37,16,0:53:99:0|1:110456942_C_G:499,0,1423,610,1471,2081:110456942	0	0	8	12
chr13	113404152	113404152	C	0	exonic	LOC101928841	.	.	.	.	.	74	109	6	10	27	53	0.106557	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5278	13067.7	97	chr13	113404152	.	C	T,*	13067.7	.	AC=18,3;AF=0.500,0.083;AN=36;BaseQRankSum=1.82;DP=1904;ExcessHet=0.0725;FS=0.000;InbreedingCoeff=0.1863;MLEAC=20,3;MLEAF=0.556,0.083;MQ=55.13;MQRankSum=-6.490e-01;QD=9.73;ReadPosRankSum=-4.236e+00;SOR=0.658	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:1,63,0:64:99:.:.:894,113,0,896,120,903	4	5	6	3
chr13	113407715	113407715	G	A	exonic	LOC101928841	.	nonsynonymous SNV	LOC101928841:NM_001304433:exon2:c.C475T:p.R159C	.	.	3	221	2	0	0	2	0.0045045	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs952202574	2.038e-05	2.052e-05	2.456e-05	1.57e-05	0.0024	1.334e-05	1.139e-05	0.0011	0.0008	0	0	6.948e-05	0	0	0.0024	8.696e-06	9.159e-05	0.0001	2.627e-05	2.626e-05	2.568e-05	2.689e-05	0.0004	8.14e-06	5.14e-06	7.282e-05	3.026e-05	0	0	6.539e-05	0	0	0	0	1.47e-05	0	0.0004	.	.	.	0.1	0.38742	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.158	0.16447	.	.	.	.	.	.	.	0.08668122	0.14757	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.017619	0.14345	T	.	.	.	.	.	.	.	.	.	0.637136	0.25071	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.197	0.41858	B	.	.	2.023837	0.25718	16.86	0.574076861028608	0.05762	0.07267	0.13291	N	AEFDBI	.	.	.	.	.	.	.	.	.	0.998188589727213	0.36545	0.056701	0.00814	0	0.059962	0.00310	0	0.074216	0.02223	0	0.062806	0.01542	0	0.0637543	0.15253	2.77	0.384	0.15467	-0.447000	0.06901	-1.510000	0.05277	-0.299000	0.06208	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.2806:0.3771:0.3423	3.728	0.08011	976	0.04745	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	769.98	36	chr13	113407715	.	G	A	769.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.36;DP=826;ExcessHet=0.0000;FS=1.925;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.41;ReadPosRankSum=1.79;SOR=0.495	GT:AD:DP:GQ:PL	0/1:43,31:74:99:784,0,1086	20	0	1	0
chr13	113453256	113453256	A	G	exonic	ADPRHL1	.	nonsynonymous SNV	ADPRHL1:NM_138430:exon1:c.T182C:p.M61T,	.	.	430	1028	57	7	0	71	0.0333803	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.684	P	0.419	B	0.000	D	1.000	D	2.215	M	1.25	T	-0.912	T	0.105	T	0.827	3.882	19.73	5.73	2.186	8.513	16.017	0.491	.	0.0067	0.00658946	0.0079	0.0008	0.0048	0.0003	0.0021	0.0076	0.0055	0.0219	0.0074061	1145	154602	rs138029763	0.0079	0.0079	0.0072	0.0085	0.0234	0.0078	0.0077	0.0225	0.0222	0.0013	0.0045	0.0113	5.038e-05	0.0016	0.0196	0.0074	0.0084	0.0234	0.0054	0.0054	0.0051	0.0057	0.0226	0.0051	0.0050	0.0192	0.0179	0.0013	0	0.0037	0.0150	0	0.0020	0.0170	0.0074	0.0080	0.0226	0.001	0.78490	D	0.002	0.83351	D	0.684	0.41517	P	0.419	0.45047	B	0.000000	0.84330	D	0.043136	0.999991	0.58761	D	3.265	0.90016	M	1.25	0.36512	T	-5.04	0.82638	D	0.624	0.82458	-0.9117	0.46645	T	0.105	0.38440	T	10	0.00862059	0.00195	T	.	.	.	0.491	0.77783	.	.	0.465294738428	0.46155	0.8717619787962976	0.87142	0.408364827475	0.41678	0.693786382675	0.66250	T	0.108391	0.57159	T	-0.113658	0.34163	T	0.0815474	0.75682	D	0.0660605591948189	0.08087	T	0.866613	0.56692	D	0.9090536	0.92206	0.9600876	0.98976	0.9090536	0.92207	0.9600876	0.98977	-13.806	0.92409	D	.	.	0.839	0.79189	P	.;.	.;.	4.357196	0.66971	25.0	0.99295426865872471	0.58433	0.98624	0.84831	D	AEFDBCI	0.938560	0.93793	D	0.522034606122977	0.68396	5.211239	0.566835519589783	0.72577	5.831745	0.999999999999811	0.74766	0.421363	0.06395	0	0.379588	0.06130	0	0.536957	0.11973	0	0.491896	0.07777	0	.	.	5.73	5.73	0.89730	8.502000	0.90336	10.946000	0.84370	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.849000	0.40138	1.0:0.0:0.0:0.0	16.017	0.80250	976	0.04745	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	2183.11	35	chr13	113453256	.	A	G	2183.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-2.290e+00;DP=851;ExcessHet=0.1072;FS=1.169;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=11.08;ReadPosRankSum=1.72;SOR=0.815	GT:AD:DP:GQ:PL	0/1:53,49:102:99:1179,0,1481	19	0	2	0
chr14	20996845	20996845	G	A	exonic	METTL17	.	nonsynonymous SNV	METTL17:NM_001029991:exon13:c.G1399A:p.V467I,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.0	B	0.001	B	.	.	1.000	N	.	.	1.42	T	-0.963	T	0.044	T	0.237	2.068	12.87	-10.7	-2.365	-5.220	9.819	0.038	0.00316250421718	.	.	4.121e-05	0	8.642e-05	0	0	2.999e-05	0	0.0001	3.23e-05	5	154602	rs764960788	2.395e-05	2.463e-05	1.906e-05	2.889e-05	0.0003	1.739e-05	1.539e-05	0.0001	0.0001	2.987e-05	4.472e-05	3.826e-05	2.519e-05	1.887e-05	0.0003	8.094e-06	1.656e-05	0.0002	3.94e-05	3.937e-05	3.855e-05	4.029e-05	0.0001	1.715e-05	1.129e-05	4.729e-05	3.047e-05	0.0001	0	0	0	0	0	0	1.47e-05	0	0	0.0	0.91255	D	0.0	0.92824	D	0.0	0.02946	B	0.001	0.04355	B	.	.	.	.	1	0.18198	N	.	.	.	1.42	0.33189	T	-0.02	0.07299	N	0.149	0.15187	-0.9626	0.38684	T	0.044	0.19070	T	8	0.050803006	0.04867	T	0.003163	0.06906	T	0.038	0.09825	0.189	0.09907	0.192905019026	0.18896	0.18038516922384218	0.17957	0.232246749357	0.25770	.	.	.	.	.	.	-0.366541	0.03773	T	-0.582759	0.14299	T	0.0294773213160726	0.01909	T	0.205379	0.02414	T	.	.	.	.	.	.	.	.	-3.988	0.23624	T	.	.	0.096	0.15475	B	.	.	-0.630866	0.01489	0.093	0.84793988236110418	0.15501	0.00159	0.00951	N	AEFGBI	0.030064	0.02955	N	-1.86430300043426	0.00406	0.01746224	-2.02444845258786	0.00272	0.01199129	0.999999998802778	0.74766	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.37	-10.7	0.00191	-5.320000	0.00156	-7.745000	0.01094	-2.648000	0.00223	0.000000	0.06391	0.000000	0.08366	0.006000	0.07323	0.7282:0.0859:0.0996:0.0863	9.819	0.40040	929	0.16858	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1813.98	34	chr14	20996845	.	G	A	1813.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.21;DP=914;ExcessHet=0.0000;FS=3.371;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.30;ReadPosRankSum=-9.500e-02;SOR=0.961	GT:AD:DP:GQ:PL	0/1:114,81:195:99:1828,0,2661	20	0	1	0
chr14	21031160	21031160	G	A	exonic	TPPP2	.	nonsynonymous SNV	TPPP2:NM_173846:exon3:c.G322A:p.A108T,	.	.	431	1077	14	0	0	14	0.00645756	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.64	T	0.004	B	0.001	B	0.444	N	1.000	N	-0.55	N	1.11	T	-1.002	T	0.026	T	0.184	0.001	4.019	0.548	0.028	1.138	8.225	0.032	0.00560486578843	0.0046	0.00159744	0.0039	0.0006	0.0010	0	0.0012	0.0063	0.0034	0.0017	0.0039003	603	154602	rs112271660	0.0041	0.0041	0.0041	0.0041	0.0061	0.0040	0.0040	0.0046	0.0046	0.0009	0.0011	0.0052	0	0.0027	0.0061	0.0047	0.0033	0.0016	0.0028	0.0028	0.0030	0.0027	0.0047	0.0026	0.0025	0.0043	0.0041	0.0006	0	0.0020	0.0063	0.0002	0.0020	0	0.0047	0.0009	0.0021	0.361	0.25055	T	0.621	0.16865	T	0.004	0.12183	B	0.001	0.04355	B	0.443918	0.12592	N	0.754623	1	0.08975	N	0.05	0.08135	N	0.97	0.42502	T	0.15	0.13035	N	0.172	0.18376	-1.0016	0.29459	T	0.026	0.11309	T	10	0.009100497	0.00206	T	0.005605	0.14469	T	0.032	0.07718	.	.	0.0806252709748	0.07271	0.31629097127188693	0.31542	0.0547453551122	0.06061	0.227164238691	0.01765	T	0.00329	0.03161	T	-0.586317	0.00176	T	-0.608441	0.12112	T	0.00318947470735191	0.00034	T	0.387861	0.12671	T	0.036615215	0.04537	0.06592769	0.13431	0.036615215	0.04537	0.06592769	0.13431	-3.071	0.10966	T	.	.	0.060	0.05188	B	.;.;.;.;.	.;.;.;.;.	0.804189	0.11749	8.325	0.77467315283828342	0.11888	0.12166	0.17101	N	AEFBI	0.172423	0.29946	N	-1.32781394930886	0.03361	0.1499837	-1.2817637082236	0.04676	0.2211651	0.997216457243705	0.35382	0.446893	0.09132	0	0.563428	0.19063	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	4.84	0.548	0.16397	1.052000	0.30039	1.590000	0.27524	-0.735000	0.03699	0.001000	0.13787	0.003000	0.18671	0.085000	0.17524	0.4342:0.0:0.5658:0.0	8.225	0.30726	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	0.04762	5596.11	35	chr14	21031160	.	G	A	5596.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=2.72;DP=1177;ExcessHet=0.1072;FS=1.103;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=11.63;ReadPosRankSum=1.27;SOR=0.600	GT:AD:DP:GQ:PL	0/1:137,93:230:99:2337,0,3308	19	0	2	0
chr14	21080771	21080771	G	A	exonic	ARHGEF40	.	nonsynonymous SNV	ARHGEF40:NM_001278529:exon12:c.G343A:p.A115T	.	.	390	1126	6	0	0	6	0.00265722	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.74	T	0.0	B	0.001	B	0.993	N	1.000	N	-0.46	N	4.51	T	-0.881	T	0.002	T	0.037	-0.373	2.246	-9.21	-1.833	-1.435	11.026	0.034	0.00356314632786	0.0045	0.000399361	0.0044	0.0006	0.0003	0	0.0018	0.0076	0.0023	0.0002	0.0042755	661	154602	rs61753298	0.0046	0.0046	0.0047	0.0045	0.0056	0.0045	0.0044	0.0055	0.0054	0.0010	0.0005	0.0040	0	0.0020	0.0010	0.0056	0.0030	0.0003	0.0030	0.0030	0.0033	0.0028	0.0059	0.0028	0.0027	0.0054	0.0052	0.0006	0	0.0003	0.0032	0	0.0015	0	0.0059	0.0014	0.0004	0.867	0.02625	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.992513	0.07911	N	1.003880	1	0.08975	N	-0.46	0.02758	N	4.51	0.02015	T	0.32	0.03955	N	0.081	0.05670	-0.8812	0.49665	T	0.002	0.00676	T	10	0.004135877	0.00081	T	0.003563	0.08123	T	0.034	0.08419	.	.	0.0611884634855	0.05136	0.07004843245278676	0.06941	0.228419714177	0.25396	0.277922898531	0.07205	T	0.002928	0.02330	T	-0.768353	0.00013	T	-0.871335	0.00730	T	0.00624320750121457	0.00069	T	0.630437	0.24556	T	0.021964489	0.00829	0.04331633	0.05363	0.021964489	0.00829	0.04331633	0.05362	-4.84	0.35053	T	.	.	0.058	0.00717	B	.	.	0.007887	0.04336	1.104	0.45025487747761617	0.03504	0.00346	0.01789	N	AEFBI	0.029567	0.02814	N	-1.8360666780389	0.00463	0.01991488	-1.83025774136931	0.00667	0.02967362	0.999995202962829	0.74766	0.634777	0.41761	0	0.563428	0.19063	0	0.643519	0.47002	0	0.528226	0.09195	0	.	.	5.13	-9.21	0.00578	-1.181000	0.03194	-0.132000	0.11608	-0.858000	0.02657	0.000000	0.06391	0.000000	0.08366	0.966000	0.53164	0.796:0.0:0.106:0.0981	11.026	0.46961	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	0.02381	1275.98	33	chr14	21080771	.	G	A	1275.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.192e+00;DP=800;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.29;ReadPosRankSum=-1.969e+00;SOR=0.678	GT:AD:DP:GQ:PL	0/1:59,54:113:99:1290,0,1488	20	0	1	0
chr14	22904952	22904952	T	C	exonic	RBM23	.	nonsynonymous SNV	RBM23:NM_001077352:exon7:c.A685G:p.M229V	.	.	435	1086	1	0	0	1	0.000460193	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	0.077	B	0.103	B	0.004	N	0.935	N	1.01	L	3.45	T	-0.959	T	0.063	T	0.264	2.672	14.89	-2.83	-0.772	0.338	5.908	0.031	0.00643910300736	0.0021	0.00239617	0.0008	0.0080	0.0005	0.0001	0	4.495e-05	0.0011	0.0007	0.0007891	122	154602	rs140983233	0.0003	0.0003	0.0003	0.0003	0.0058	0.0003	0.0002	0.0051	0.0048	0.0058	0.0004	0	0.0003	0	0.0009	7.284e-05	0.0006	0.0006	0.0018	0.0018	0.0018	0.0018	0.0061	0.0017	0.0016	0.0055	0.0053	0.0061	0	0.0009	0.0003	0.0002	0	0	0.0001	0	0.0004	0.073	0.42199	T	0.061	0.46182	T	0.077	0.24313	B	0.103	0.30945	B	0.004433	0.33751	N	0.284770	0.655152	0.37093	D	0.17	0.09006	N	-0.77	0.73523	T	-3.27	0.66665	D	0.306	0.42737	-0.9588	0.39405	T	0.063	0.26314	T	10	0.00851658	0.00193	T	0.006439	0.16956	T	0.073	0.21317	.	.	0.588233179549	0.58498	0.34683575917908993	0.34597	0.109721643832	0.12372	0.331896841526	0.15221	T	0.140093	0.47445	T	-0.404658	0.02157	T	-0.349615	0.39250	T	0.0121618805085523	0.00195	T	0.861914	0.57621	D	0.2224496	0.44844	0.21612099	0.46228	0.2224496	0.44844	0.21612099	0.46227	-10.911	0.79167	D	.	.	0.108	0.31100	B	.;.;.;.;.;.	.;.;.;.;.;.	0.595807	0.09641	6.415	0.9638416159980544	0.29630	0.32870	0.24690	N	AEFBI	0.115567	0.22718	N	-0.448417063372219	0.23793	1.280284	-0.496873013177861	0.22240	1.206999	0.999844869202041	0.43971	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.8	-2.83	0.05425	0.442000	0.21343	-0.753000	0.07569	0.665000	0.62972	0.144000	0.23566	0.000000	0.08366	0.997000	0.79791	0.0:0.2608:0.2286:0.5106	5.908	0.18254	794	0.45591	RNA recognition motif domain;RNA recognition motif domain;RNA recognition motif domain;RNA recognition motif domain;RNA recognition motif domain;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1298.98	69	chr14	22904952	.	T	C	1298.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.623;DP=1352;ExcessHet=0.0000;FS=4.577;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.30;ReadPosRankSum=-9.730e-01;SOR=0.781	GT:AD:DP:GQ:PL	0/1:66,49:115:99:1313,0,1835	20	0	1	0
chr14	24300437	24300437	G	C	exonic	NOP9	.	nonsynonymous SNV	NOP9:NM_001286367:exon2:c.G277C:p.V93L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.63	T	0.008	B	0.009	B	0.000	D	0.996	D	0.97	L	2.67	T	-1.062	T	0.026	T	0.315	2.700	14.99	4.09	2.615	3.447	14.766	0.054	0.00576105487957	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0003	0.0050	0.0003	0.0003	0.0004	0.0003	0.0003	0.0004	0.0003	0.0002	2.243e-05	0.0001	0	0	0.0002	0.0004	0.0003	7.042e-05	1.319e-05	5.919e-05	1.29e-05	1.35e-05	0.0002	2.19e-06	8.2e-07	.	.	0	0	0	0	0	0	0	1.474e-05	0	0.0002	0.197	0.23183	T	0.214	0.26386	T	0.008	0.14655	B	0.009	0.14300	B	0.000069	0.52346	D	0.072968	0.996321	0.43140	D	2.585	0.75554	M	2.67	0.12473	T	-0.93	0.24898	N	0.223	0.25006	-1.0617	0.11336	T	0.026	0.11220	T	10	0.2473082	0.42010	T	0.005761	0.14952	T	0.054	0.15330	0.682	0.81982	0.280181792013	0.27631	0.43155452972977676	0.43072	0.241845707043	0.26701	0.518697142601	0.41442	T	0.026513	0.19606	T	-0.1628	0.26331	T	-0.471627	0.25341	T	0.867119252681732	0.51714	D	.	.	.	0.2700367	0.50075	0.25238276	0.50866	0.2700367	0.50075	0.25238276	0.50865	-4.398	0.29530	T	.	.	0.406	0.62127	A	.;.	.;.	3.392337	0.46977	22.4	0.98957409412611974	0.49266	0.70411	0.34579	D	AEFDGBHCI	0.404589	0.47781	N	-0.158710929101413	0.34866	1.995547	0.0346132377272474	0.41334	2.481569	0.99999908900984	0.74766	0.766844	0.99359	0	0.672317	0.65289	0	0.851219	0.99655	0	0.638787	0.57140	0	.	.	5.05	4.09	0.47038	3.594000	0.53755	8.281000	0.76903	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:0.8459:0.1541	14.766	0.69261	867	0.32089	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.3667	974.79	119	chr14	24300437	.	G	C	974.79	.	AC=11;AF=0.367;AN=30;BaseQRankSum=-4.960e+00;DP=2462;ExcessHet=7.7275;FS=350.718;InbreedingCoeff=-0.4950;MLEAC=13;MLEAF=0.433;MQ=60.00;MQRankSum=0.00;QD=0.64;ReadPosRankSum=1.16;SOR=10.936	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:101,47:148:99:.:.:279,0,2100	4	0	11	6
chr14	24373831	24373831	G	A	exonic	NFATC4	.	nonsynonymous SNV	NFATC4:NM_001198965:exon5:c.G1696A:p.V566I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.17	T	0.307	B	0.028	B	0.001	D	1.000	D	0.92	L	0.94	T	-1.096	T	0.060	T	0.15	1.941	12.45	2.21	0.298	-0.029	7.120	0.026	0.00444392335291	.	.	1.652e-05	0	0	0	0	3.007e-05	0	0	1.29e-05	2	154602	rs56375538	2.942e-05	2.941e-05	2.587e-05	3.3e-05	0.0003	2.217e-05	1.97e-05	6.092e-05	2.521e-05	5.974e-05	0	3.826e-05	0.0001	0	0.0003	2.428e-05	4.967e-05	4.637e-05	0.0001	0.0001	0.0001	9.416e-05	0.0004	6.511e-05	5.323e-05	0.0002	0.0002	0.0004	0	0	0	0	0	0	0	0	0	0.334	0.24955	T	0.27	0.36901	T	0.003	0.32716	B	0.0	0.21332	B	0.000517	0.43753	D	0.159057	0.546891	0.32100	D	0.57	0.15267	N	0.94	0.43672	T	0.41	0.04947	N	0.222	0.25377	-1.0962	0.04583	T	0.060	0.25018	T	10	0.04758826	0.04097	T	0.004444	0.10875	T	0.026	0.05648	0.473	0.54859	0.143184338766	0.13958	0.08713265386865678	0.08646	0.272749980587	0.29779	0.353072375059	0.18373	T	0.097009	0.39941	T	-0.489248	0.00656	T	-0.586514	0.13969	T	0.138334959745407	0.16130	T	.	.	.	0.021935273	0.00824	0.04277953	0.05172	0.021935273	0.00824	0.04277953	0.05172	-6.847	0.54854	T	.	.	0.072	0.05845	B	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	1.588845	0.20324	14.69	0.97627500123266886	0.35000	0.24505	0.22414	N	AEFDBI	0.209647	0.33561	N	-0.739938072121272	0.14908	0.7467052	-0.662292451241846	0.17907	0.95426	0.999777725293249	0.42865	0.706298	0.61202	0	0.693144	0.66847	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	4.99	2.21	0.27042	0.446000	0.21410	0.499000	0.18978	-0.127000	0.13314	0.341000	0.25683	0.757000	0.26594	0.983000	0.59808	0.3529:0.0:0.6471:0.0	7.120	0.24615	850	0.35610	.;.;.;.;.;.;.;.;.;Rel homology domain (RHD), DNA-binding domain|Rel homology domain (RHD), DNA-binding domain;.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2088.98	35	chr14	24373831	.	G	A	2088.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.721e+00;DP=861;ExcessHet=0.0000;FS=5.070;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.02;ReadPosRankSum=0.711;SOR=0.407	GT:AD:DP:GQ:PL	0/1:64,85:149:99:2103,0,1636	20	0	1	0
chr14	35266863	35266863	T	A	exonic	PRORP	.	nonsynonymous SNV	PRORP:NM_001256681:exon4:c.T296A:p.F99Y	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.48	T	1.0	D	0.987	D	0.000	D	1.000	D	1.97	M	0.95	T	-0.749	T	0.250	T	0.582	5.008	29.5	5.52	2.104	7.488	14.637	0.186	0.0310932505724	7.7e-05	.	1.648e-05	0	0	0	0	2.999e-05	0	0	1.29e-05	2	154602	rs369441143	1.026e-05	1.026e-05	1.089e-05	9.625e-06	0.0012	6.16e-06	4.89e-06	0.0006	0.0004	0	0	0	0	0	0.0012	4.496e-06	1.656e-05	2.319e-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	0.023	0.48186	D	0.039	0.51737	D	0.999	0.90584	D	0.974	0.77487	D	0.000000	0.84330	D	0.000000	0.99996	0.54805	D	.	.	.	0.92	0.46777	T	-1.95	0.47344	N	0.517	0.56662	-0.7494	0.57967	T	0.250	0.61969	T	10	0.46986142	0.59795	T	0.031093	0.53261	D	0.186	0.46104	.	.	0.722538789807	0.72009	0.47069004698208744	0.46988	0.680099033632	0.59965	0.583495259285	0.50579	T	0.023547	0.27041	T	-0.071069	0.41155	T	-0.243008	0.50504	T	0.92572420835495	0.58761	D	0.70483	0.42665	T	0.82699865	0.85695	0.7311272	0.84112	0.82699865	0.85697	0.7311272	0.84113	-8.64	0.66263	D	0.3851466126286071	0.47905	0.366	0.61942	A	.;.;.;.;.;.;.	.;.;.;.;.;.;.	4.716059	0.75812	26.4	0.99563542666236093	0.71953	0.98056	0.79226	D	AEBI	0.924436	0.90246	D	0.652629918332478	0.76539	6.50522	0.655117416871151	0.78993	6.989252	0.999997836804624	0.74766	0.706298	0.61202	0	0.724815	0.89359	0	0.644132	0.48003	0	0.613276	0.41899	0	.	.	5.52	5.52	0.82153	7.382000	0.79001	7.858000	0.71298	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.987000	0.62547	0.0:0.0:0.0:1.0	14.637	0.68296	432	0.80690	.;.;.;Protein-only RNase P, C-terminal;.;.;Protein-only RNase P, C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	932.98	33	chr14	35266863	.	T	A	932.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.140;DP=839;ExcessHet=0.0000;FS=5.423;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.24;ReadPosRankSum=0.614;SOR=1.321	GT:AD:DP:GQ:PL	0/1:63,38:101:99:947,0,1637	20	0	1	0
chr14	37817606	37817606	G	A	exonic	TTC6	.	nonsynonymous SNV	TTC6:NM_001368142:exon8:c.G620A:p.R207Q	.	.	0	225	1	0	0	1	0.00221729	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.23	T	0.022	B	0.004	B	0.381	N	1.000	N	-0.345	N	0.66	T	-1.036	T	0.080	T	0.088	0.201	5.085	-0.44	0.044	1.288	5.345	0.040	0.0164436967503	.	.	5.797e-05	0	0	0.0003	0	6.025e-05	0	0	5.17e-05	8	154602	rs764797856	6.294e-05	6.293e-05	6.126e-05	6.464e-05	7.558e-05	5.228e-05	4.846e-05	5.623e-05	5.196e-05	5.975e-05	6.709e-05	0	7.558e-05	0	0	6.925e-05	3.312e-05	5.797e-05	7.225e-05	7.219e-05	8.997e-05	5.374e-05	0.0004	3.97e-05	3.126e-05	6.847e-05	2.865e-05	4.813e-05	0	6.542e-05	0	0.0004	0	0	8.82e-05	0	0	0.395	0.10659	T	0.522	0.13832	T	0.022	0.18677	B	0.004	0.10090	B	0.381296	0.13385	N	0.648818	.	.	.	-1.61	0.00416	N	0.66	0.62762	T	0.09	0.08187	N	0.223	0.25006	-1.0362	0.18481	T	0.080	0.31556	T	9	0.031945646	0.01336	T	0.016444	0.37697	T	0.040	0.10527	0.55	0.66576	0.154104182512	0.14974	.	.	0.036978096789	0.03917	0.240965902805	0.02878	T	0.003292	0.02698	T	-0.417915	0.01764	T	-0.573654	0.15115	T	0.0130939528547933	0.00230	T	0.245375	0.07077	T	0.029014444	0.02329	0.035564706	0.02832	0.029014444	0.02329	0.035564706	0.02832	-2.948	0.09632	T	.	.	0.058	0.03231	B	.;.;.;.	.;.;.;.	0.777837	0.11479	8.082	0.52645751781857675	0.04787	0.00430	0.02113	N	AEFBI	0.028392	0.02493	N	-1.23769801087115	0.04464	0.2015355	-1.20995818288348	0.05749	0.274802	0.988527374637704	0.31545	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	5.12	-0.44	0.11649	1.511000	0.35409	3.945000	0.40631	-0.047000	0.17328	0.116000	0.23103	0.996000	0.32793	0.399000	0.26759	0.4299:0.3949:0.1752:0.0	5.345	0.15307	591	0.68823	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	0	0	0	0	0	0	0	1	0	0	0	0.02381	1886.98	39	chr14	37817606	.	G	A	1886.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.11;DP=837;ExcessHet=0.0000;FS=1.305;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.29;ReadPosRankSum=1.16;SOR=0.641	GT:AD:DP:GQ:PL	0/1:69,73:142:99:1901,0,1474	20	0	1	0
chr14	49840776	49840776	G	A	exonic	NEMF	.	nonsynonymous SNV	NEMF:NM_001301732:exon5:c.C448T:p.R150C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07	T	1.0	D	0.973	D	0.000	D	1.000	D	3.065	M	0.87	T	-0.296	T	0.336	T	0.847	4.363	23.0	5.49	2.573	6.550	18.947	0.401	0.0988903544132	.	.	1.65e-05	0	0	0	0	3.003e-05	0	0	1.94e-05	3	154602	rs753742777	1.095e-05	1.094e-05	5.445e-06	1.65e-05	0.0001	6.48e-06	5.24e-06	5.396e-05	4.042e-05	5.975e-05	0	0	0	0	0	3.597e-06	1.656e-05	0.0001	1.315e-05	1.314e-05	0	2.693e-05	0.0002	2.19e-06	8.2e-07	.	.	0	0	6.554e-05	0	0	0	0	0	0	0.0002	0.001	0.91255	D	0.005	0.72224	D	0.999	0.77913	D	0.973	0.72923	D	0.000006	0.62929	D	0.108957	1	0.81001	D	3.39	0.91563	M	0.87	0.46412	T	-6.7	0.92476	D	0.79	0.78641	-0.2963	0.75088	T	0.336	0.70273	T	10	0.83453393	0.82611	D	0.09889	0.77017	D	0.401	0.71479	0.704	0.84054	0.403424677067	0.39955	0.7540117433322648	0.75348	0.951220964294	0.72649	0.736459374428	0.72452	T	0.38136	0.74370	T	0.0791231	0.61938	D	0.0785323	0.75479	D	0.945323526859283	0.62240	D	0.987601	0.97468	D	0.52081454	0.68306	0.5565833	0.74352	0.52081454	0.68307	0.5565833	0.74353	-11.645	0.83079	D	.	.	0.816	0.78017	P	.;.;.	.;.;.	5.703684	0.93131	33	0.99939817952440058	0.99767	0.95576	0.65273	D	AEFGBI	0.736535	0.68201	D	0.870239720401081	0.90226	10.30937	0.822908054501837	0.91339	10.83685	0.972815537523106	0.29402	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.49	5.49	0.81022	5.723000	0.68141	11.580000	0.93336	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.990000	0.65344	0.0:0.0:1.0:0.0	18.947	0.92599	864	0.32732	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1245.98	34	chr14	49840776	.	G	A	1245.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.469;DP=826;ExcessHet=0.0000;FS=3.061;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.96;ReadPosRankSum=0.441;SOR=0.972	GT:AD:DP:GQ:PL	0/1:80,59:139:99:1260,0,1790	20	0	1	0
chr14	50118700	50118700	T	C	exonic	SOS2	.	nonsynonymous SNV	SOS2:NM_006939:exon23:c.A3643G:p.T1215A,	Noonan syndrome 9, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.85	T	0.984	D	0.956	D	0.000	D	1.000	D	1.78	L	-1.03	T	-0.186	T	0.513	D	0.57	3.195	16.70	5.13	1.915	4.113	14.941	0.315	0.0298689566569	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.258	0.16683	T	0.498	0.11299	T	0.984	0.60733	D	0.956	0.69739	D	0.000001	0.84330	D	0.096362	1	0.81001	D	1.905	0.50856	L	-1.16	0.78082	T	-1.33	0.33197	N	0.216	0.45803	-0.1864	0.78019	T	0.513	0.81738	D	10	0.19971803	0.35990	T	0.029869	0.52294	D	0.315	0.63694	0.134	0.03833	0.657723973783	0.65486	0.19360767584240793	0.19278	0.288324777556	0.31240	0.597126245499	0.52500	T	0.360439	0.72668	T	0.0625338	0.59931	T	-0.147951	0.59425	T	0.702032208442688	0.40816	D	0.756624	0.37993	T	0.15146124	0.34430	0.14836761	0.35075	0.15146124	0.34430	0.14836761	0.35074	-3.563	0.18495	T	0.1840803389161652	0.23860	0.085	0.32733	B	.;.	.;.	4.031690	0.59621	24.1	0.99619408766415929	0.75293	0.93801	0.59230	D	AEFDBI	0.447438	0.50308	N	0.397151473507348	0.61266	4.325524	0.40698342311687	0.62000	4.408281	0.999999999738258	0.74766	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.13	5.13	0.69729	4.159000	0.57939	5.128000	0.47635	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:0.0:1.0	14.941	0.70643	443	0.79878	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1164.98	33	chr14	50118700	.	T	C	1164.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.70;DP=797;ExcessHet=0.0000;FS=5.719;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.26;ReadPosRankSum=0.089;SOR=1.340	GT:AD:DP:GQ:PL	0/1:50,45:95:99:1179,0,1305	20	0	1	0
chr14	50342153	50342153	A	G	exonic	CDKL1	.	nonsynonymous SNV	CDKL1:NM_001282236:exon5:c.T436C:p.F146L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	.	.	1.000	D	2.1	M	-0.78	T	0.186	D	0.553	D	0.971	5.177	32	5.04	2.199	8.852	15.499	0.874	0.136081298739	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	-0.78	0.73631	T	-5.95	0.89152	D	0.973	0.98368	0.186	0.85680	D	0.553	0.83654	D	9	0.9208094	0.91435	D	0.136081	0.81856	D	0.874	0.96243	.	.	0.582387198248	0.57910	0.7899528488042598	0.78947	0.957538429204	0.72882	0.918046355247	0.98171	D	.	.	.	0.382047	0.88840	D	0.311008	0.88700	D	0.998335341875071	0.93860	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.996	0.95886	P	.;.	.;.	5.158857	0.86435	28.9	0.99904777601010752	0.97576	0.98602	0.84577	D	AEFBI	0.943114	0.94854	D	0.803184769460503	0.86304	8.842742	0.773009753022601	0.87864	9.37126	0.999999999990048	0.74766	0.653281	0.48532	0	0.633656	0.55848	0	0.658983	0.55881	0	0.669	0.65921	0	.	.	5.04	5.04	0.67293	8.918000	0.92345	11.057000	0.85382	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	1.0:0.0:0.0:0.0	15.499	0.75417	487	0.76954	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	889.98	42	chr14	50342153	.	A	G	889.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.115;DP=874;ExcessHet=0.0000;FS=0.804;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.35;ReadPosRankSum=0.195;SOR=0.807	GT:AD:DP:GQ:PL	0/1:46,40:86:99:904,0,1082	20	0	1	0
chr14	50635189	50635189	A	T	exonic	SAV1	.	nonsynonymous SNV	SAV1:NM_021818:exon5:c.T1146A:p.N382K,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08	T	0.0	B	0.0	B	0.000	N	0.990	D	-0.41	N	0.81	T	-1.099	T	0.052	T	0.16	1.580	11.24	3.45	0.452	0.927	5.634	0.007	0.00518398525593	.	.	.	.	.	.	.	.	.	.	6.5e-06	1	154602	.	3.429e-06	3.42e-06	1.364e-06	5.517e-06	4.5e-06	1e-06	7.3e-07	1.32e-06	9.6e-07	0	0	0	0	0	0	4.5e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.097	0.30943	T	0.0	0.92824	D	0.0	0.02946	B	0.0	0.01387	B	0.000027	0.55875	N	0.183273	0.990	0.41006	D	0.51	0.13489	N	0.81	0.48460	T	-0.92	0.24676	N	0.143	0.14338	-1.0992	0.04189	T	0.052	0.22192	T	10	0.08174291	0.13415	T	0.005184	0.13187	T	0.058	0.16647	0.319	0.29741	0.179529687257	0.17594	0.6385474858181067	0.63788	0.305345504322	0.32837	0.661500573158	0.61624	T	0.319744	0.69100	T	-0.193994	0.21674	T	-0.516436	0.20656	T	0.31642684340477	0.25677	T	0.760024	0.38453	T	0.057138305	0.11334	0.04888027	0.07354	0.057138305	0.11333	0.04888027	0.07353	-4.214	0.26954	T	.	.	0.366	0.57591	A	.	.	1.319259	0.17233	13.04	0.95217316447040856	0.26432	0.93223	0.57646	D	AEBI	0.439360	0.49836	N	-0.65374406251729	0.17351	0.8921131	-0.442416663679045	0.23765	1.297702	5.7426597413981E-4	0.07363	0.732398	0.92422	0	0.743671	0.97443	0	0.658983	0.55881	0	0.635551	0.53088	0	.	.	5.85	3.45	0.38602	0.936000	0.28536	2.920000	0.35558	-0.556000	0.04876	0.999000	0.42656	1.000000	0.68203	0.902000	0.43815	0.6955:0.1462:0.1584:0.0	5.634	0.16806	388	0.83355	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	411.98	33	chr14	50635189	.	A	T	411.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.153e+00;DP=721;ExcessHet=0.0000;FS=1.228;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.41;ReadPosRankSum=-2.503e+00;SOR=0.960	GT:AD:DP:GQ:PL	0/1:29,20:49:99:426,0,771	20	0	1	0
chr14	58213644	58213644	T	C	exonic	ACTR10	.	nonsynonymous SNV	ACTR10:NM_018477:exon6:c.T464C:p.I155T,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.11	T	0.0	B	0.001	B	0.000	D	1.000	D	0.805	L	-3.44	D	0.114	D	0.666	D	0.186	0.389	6.113	5.8	2.219	4.529	9.930	0.324	0.0362747916202	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0.0026	0.0003	0.0002	0.0003	0.0002	0.0002	0.0003	0.0003	0.0002	0	8.123e-05	7.948e-05	1.955e-05	0	0.0003	0.0002	7.24e-05	6.639e-06	2.641e-05	0	1.359e-05	1.482e-05	0	0	.	.	0	0	0	0	0	0	0	1.482e-05	0	0	0.35	0.12305	T	0.45	0.12957	T	0.0	0.02946	B	0.001	0.04355	B	0.000051	0.53742	D	0.197305	0.974077	0.39075	D	0.06	0.08197	N	-3.44	0.94428	D	-1.31	0.32791	N	0.456	0.49328	0.114	0.84424	D	0.666	0.88403	D	10	0.36079857	0.52715	T	0.036275	0.56887	D	0.324	0.64624	0.434	0.48500	0.993195394259	0.99311	0.5930593215126997	0.59235	0.374889918543	0.38946	0.782578408718	0.79317	T	0.399172	0.75708	T	0.0213512	0.54564	T	-0.207107	0.53971	T	0.59854531288147	0.36343	D	0.833317	0.50212	T	0.060931925	0.12560	0.09373129	0.22154	0.060931925	0.12560	0.09373129	0.22154	-5.421	0.41121	T	.	.	0.486	0.63951	A	.	.	3.186553	0.43278	21.7	0.8580340382623457	0.16122	0.91508	0.53678	D	AEFBI	0.213280	0.33888	N	-0.111420387238393	0.36894	2.138883	0.0755270437198708	0.43321	2.636326	0.9557581108309	0.28208	0.732398	0.92422	0	0.743671	0.97443	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	5.8	5.8	0.92081	4.582000	0.60668	7.707000	0.66598	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.500000	0.29017	0.0:0.0786:0.0:0.9214	9.930	0.40688	881	0.29269	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.5	2608.12	67	chr14	58213644	.	T	C	2608.12	.	AC=21;AF=0.500;AN=42;BaseQRankSum=-2.303e+00;DP=1500;ExcessHet=54.0936;FS=246.126;InbreedingCoeff=-0.9696;MLEAC=21;MLEAF=0.500;MQ=60.00;MQRankSum=0.00;QD=1.77;ReadPosRankSum=0.737;SOR=12.205	GT:AD:DP:GQ:PL	0/1:71,18:89:30:30,0,1410	0	0	21	0
chr14	64024985	64024985	C	T	exonic	SYNE2	.	nonsynonymous SNV	SYNE2:NM_015180:exon40:c.C5914T:p.P1972S	Emery-Dreifuss muscular dystrophy 5, autosomal dominant, Autosomal dominant	.	1	1520	1	0	0	1	0.000328839	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.84	T	0.0	B	0.0	B	0.847	N	1.000	N	-0.805	N	1.3	T	-0.991	T	0.027	T	0.053	-0.670	1.069	2.4	0.063	-0.200	1.361	0.031	0.00614304222766	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.575e-06	6.567e-06	1.285e-05	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0.0005	0	1.0	0.02442	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.846977	0.07034	N	1.093260	1	0.08975	N	-1.04	0.01097	N	1.3	0.35590	T	0.53	0.02993	N	0.047	0.02759	-0.9908	0.32398	T	0.027	0.11529	T	10	0.021880388	0.00533	T	0.006143	0.16082	T	0.031	0.07369	.	.	0.0954503805726	0.09146	0.022126609623920487	0.02164	0.0474878984086	0.05180	0.284060716629	0.08065	T	0.004124	0.15622	T	-0.342828	0.05194	T	-0.730225	0.04317	T	0.0407413379714851	0.03825	T	0.181482	0.01827	T	0.022033945	0.00840	0.038019847	0.03581	0.022033945	0.00840	0.038019847	0.03581	-2.472	0.05593	T	.	.	0.06	0.00934	B	.;.;.;.	.;.;.;.	0.679272	0.10477	7.194	0.51176841716870924	0.04516	0.00429	0.02107	N	AEFGBI	0.011820	0.00113	N	-1.39682090109197	0.02668	0.1181404	-1.29970176351436	0.04435	0.2091917	0.0187855660569027	0.13096	0.651	0.46895	0	0.708844	0.79440	0	0.608884	0.39905	0	0.635551	0.53088	0	.	.	4.87	2.4	0.28568	-0.203000	0.09440	0.287000	0.16831	-0.108000	0.15293	0.000000	0.06391	0.000000	0.08366	0.522000	0.29520	0.1426:0.1676:0.1501:0.5396	1.361	0.02060	696	0.58299	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1269.98	40	chr14	64024985	.	C	T	1269.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.03;DP=909;ExcessHet=0.0000;FS=11.056;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.04;ReadPosRankSum=0.105;SOR=1.692	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:68,47:115:99:0|1:64024977_T_C:1284,0,1759:64024977	20	0	1	0
chr14	64459916	64459919	TTAA	-	exonic	MTHFD1	.	frameshift deletion	MTHFD1:NM_001364837:exon27:c.2876_2879del:p.N960Lfs*8,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1149.94	39	chr14	64459915	.	CTTAA	C	1149.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.234e+00;DP=764;ExcessHet=0.0000;FS=2.300;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=19.49;ReadPosRankSum=0.054;SOR=0.395	GT:AD:DP:GQ:PL	0/1:29,30:59:99:1164,0,1127	20	0	1	0
chr14	69573090	69573092	GCG	-	exonic	CCDC177	.	nonframeshift deletion	CCDC177:NM_001271507:exon2:c.531_533del:p.A180del,	.	.	481	42	22	831	146	1830	0.952489	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.9524	15285.35	10	chr14	69573086	.	CGCGGCG	C,CGCG	15285.35	.	AC=40,2;AF=0.952,0.048;AN=42;DP=467;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=NaN;MLEAC=40,2;MLEAF=0.952,0.048;MQ=60.00;QD=30.04;SOR=1.246	GT:AD:DP:GQ:PL	1/2:0,12,6:18:99:756,252,216,504,0,486	0	19	0	0
chr14	73259365	73259365	A	G	exonic	PAPLN	.	nonsynonymous SNV	PAPLN:NM_001365907:exon15:c.A1805G:p.H602R	.	.	395	1124	3	0	0	3	0.00133274	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.36	T	0.002	B	0.002	B	.	.	1.000	N	1.39	L	0.38	T	-1.018	T	0.100	T	0.053	0.216	5.167	-5.01	-1.268	-0.286	1.095	0.047	0.0122640319476	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1475060248	2.74e-06	3.42e-06	4.089e-06	1.377e-06	0.0003	6.4e-07	4.3e-07	6.103e-05	2.525e-05	0	0	0	0	0	0.0003	1.8e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.395	0.11770	T	0.4	0.15355	T	0.001	0.09854	B	0.001	0.06944	B	.	.	.	.	1	0.08975	N	1.3	0.32576	L	0.08	0.61559	T	-1.16	0.29727	N	0.036	0.01498	-1.0176	0.24495	T	0.100	0.37290	T	9	0.06471792	0.08624	T	0.012264	0.30673	T	0.047	0.12962	0.373	0.38503	0.0401082797425	0.02173	0.2807137103014471	0.27984	0.228925084113	0.25452	0.31009888649	0.11922	T	0.008617	0.07902	T	-0.273006	0.11424	T	-0.629931	0.10420	T	0.0261170344462133	0.01421	T	0.324568	0.10046	T	0.031304102	0.02945	0.031668928	0.01790	0.031304102	0.02944	0.031668928	0.01789	-2.919	0.10042	T	.	.	0.070	0.10449	B	.;.;.;.	.;.;.;.	-0.742298	0.01226	0.062	0.14621861030911101	0.00329	0.06183	0.12167	N	AEFDGBI	0.089413	0.18123	N	-1.66916051444573	0.00957	0.0414567	-1.76032882502214	0.00895	0.04001416	0.99998165930435	0.51787	0.695654	0.57023	0	0.633656	0.55848	0	0.723109	0.80598	0	0.655142	0.61905	0	.	.	4.31	-5.01	0.02768	-0.140000	0.10323	0.004000	0.13336	-0.832000	0.02862	0.000000	0.06391	0.000000	0.08366	0.005000	0.06747	0.3348:0.279:0.2508:0.1354	1.095	0.01569	749	0.51929	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1182.98	33	chr14	73259365	.	A	G	1182.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.04;DP=792;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.32;ReadPosRankSum=0.264;SOR=0.680	GT:AD:DP:GQ:PL	0/1:46,50:96:99:1197,0,1033	20	0	1	0
chr14	78297852	78297852	G	A	exonic	NRXN3	.	nonsynonymous SNV	NRXN3:NM_001330195:exon4:c.G749A:p.S250N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.000	D	.	.	.	.	-0.457	T	0.373	T	0.265	1.329	10.36	6.02	2.865	5.815	17.697	0.077	.	.	.	7.053e-05	0	0	0	0	0	0	0.0001	6.5e-06	1	154602	rs746873335	3.613e-06	4.788e-06	1.426e-06	5.857e-06	5.049e-05	1.06e-06	7.7e-07	1.679e-05	9.94e-06	0	0	0	0	0	0	0	1.724e-05	5.049e-05	6.574e-06	6.568e-06	1.285e-05	0	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	.	.	.	0.693	0.05863	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.436	0.47487	-0.4570	0.70168	T	0.373	0.73190	T	4	0.2170158	0.38302	T	.	.	.	.	.	.	.	.	.	0.58544048292484	0.58473	.	.	.	.	.	0.003487	0.02889	T	.	.	.	.	.	.	.	.	.	0.762324	0.62461	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.189	0.40618	B	.;.	.;.	3.614068	0.51109	23.0	0.90763606675286401	0.20013	0.96897	0.71537	D	AEFBI	0.600580	0.59316	D	0.471952315503581	0.65458	4.825172	0.577232011699918	0.73311	5.949721	0.999999782056204	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.657636	0.52715	0	0.564101	0.26826	0	.	.	6.02	6.02	0.97559	5.916000	0.69712	7.632000	0.62779	0.662000	0.56354	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	17.697	0.88190	743	0.52768	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.381	1084.5	165	chr14	78297852	.	G	A	1084.5	.	AC=16;AF=0.381;AN=42;BaseQRankSum=-4.121e+00;DP=3392;ExcessHet=20.9642;FS=253.512;InbreedingCoeff=-0.6055;MLEAC=16;MLEAF=0.381;MQ=60.00;MQRankSum=0.00;QD=0.45;ReadPosRankSum=-1.140e-01;SOR=12.494	GT:AD:DP:GQ:PL	0/1:124,47:187:38:38,0,1884	5	0	16	0
chr14	87947880	87947880	T	G	splicing	GALC	NM_000153:exon13:c.1339-2A>C;NM_001201402:exon13:c.1261-2A>C;NM_001201401:exon12:c.1270-2A>C	.	.	Krabbe disease, Autosomal recessive	YES	.	.	.	.	.	.	.	1.0000	0.804	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.000	D	.	.	.	.	.	.	.	.	.	1.317	10.32	3.66	2.343	1.628	8.987	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.625005	0.99412	D	0.66	0.99401	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.;.	.;.;.;.	7.048355	0.96078	35	0.96312423662121505	0.29387	0.90279	0.51329	D	AEFBI	.	.	.	0.834703617961455	0.88221	9.49745	0.637691033602847	0.77695	6.729492	0.662390159466227	0.22285	0.088506	0.02282	0	0.096993	0.02736	0	0.060301	0.00762	0	0.057018	0.00518	0	0.774629	0.45842	6.11	3.66	0.41111	2.105000	0.41449	7.874000	0.72122	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.337000	0.25363	0.1223:0.0:0.127:0.7507	8.987	0.35161	920	0.19381	.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2632	935.62	37	chr14	87947880	.	T	G	935.62	.	AC=10;AF=0.263;AN=38;BaseQRankSum=-1.210e+00;DP=599;ExcessHet=6.5132;FS=356.125;InbreedingCoeff=-0.3595;MLEAC=11;MLEAF=0.289;MQ=60.00;MQRankSum=0.00;QD=2.47;ReadPosRankSum=1.35;SOR=9.869	GT:AD:DP:GQ:PL	0/1:27,13:40:96:96,0,548	9	0	10	2
chr14	92071010	92071010	-	TGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	exonic	ATXN3	.	frameshift insertion	ATXN3:NM_001164782:exon2:c.67_68insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA:p.G23Afs*74	Machado-Joseph disease, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0004	0.0005	0.0004	0.0004	0.0066	0.0004	0.0003	0.0059	0.0057	0.0039	0.0002	0	0.0066	4.089e-05	0.0008	8.033e-05	0.0005	0.0003	0.0029	0.0030	0.0029	0.0030	0.0095	0.0027	0.0026	0.0087	0.0084	0.0095	0	0.0009	0	0.0069	0	0	0.0004	0.0010	0.0009	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5952	36259.03	42	chr14	92071010	.	C	CCTGCTGCTGCTGCTGCTGCTGCTGCTG,CCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG,CTGCTGCTGCTGCTGCTG,CTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG,CCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG,CTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	36259.03	.	AC=18,2,2,6,3,2;AF=0.429,0.048,0.048,0.143,0.071,0.048;AN=42;BaseQRankSum=0.860;DP=1771;ExcessHet=0.9430;FS=3.265;InbreedingCoeff=0.0101;MLEAC=18,2,2,6,3,2;MLEAF=0.429,0.048,0.048,0.143,0.071,0.048;MQ=59.43;MQRankSum=0.00;QD=25.62;ReadPosRankSum=1.57;SOR=1.013	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,23,0,0,0,0,0:59:99:.:.:1332,111,0,1179,154,1335,1179,154,1335,1335,1179,154,1335,1335,1335,1179,154,1335,1335,1335,1335,1179,154,1335,1335,1335,1335,1335	1	5	3	0
chr14	94497802	94497802	C	T	exonic	SERPINA12	.	nonsynonymous SNV	SERPINA12:NM_001304461:exon2:c.G596A:p.G199D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.66	T	0.011	B	0.017	B	0.252	N	1.000	N	0.05	N	-2.05	D	-0.896	T	0.266	T	0.154	-1.272	0.044	2.69	0.689	0.019	3.621	0.133	0.0188046605053	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1455963195	6.871e-07	2.052e-06	0	1.382e-06	2.524e-05	0	0	.	.	0	0	0	2.524e-05	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.463	0.08660	T	0.657	0.06576	T	0.011	0.15914	B	0.017	0.18140	B	0.251813	0.15493	N	0.613802	1	0.08975	N	0.66	0.16226	N	-2.05	0.85799	D	-1.46	0.35792	N	0.148	0.15046	-0.8956	0.48427	T	0.266	0.63727	T	10	0.040331542	0.02593	T	0.018805	0.40992	T	0.133	0.36157	0.432	0.48171	0.216624796971	0.21254	0.6112549893490689	0.61057	0.100516046514	0.11355	0.37503361702	0.21551	T	0.03395	0.23124	T	-0.223248	0.17552	T	-0.389328	0.34630	T	0.0576949219063508	0.06800	T	0.584142	0.21248	T	0.26295173	0.49358	0.10561278	0.25391	0.26295173	0.49358	0.10561278	0.25390	-1.722	0.02287	T	.	.	0.224	0.49509	B	.;.	.;.	2.009921	0.25536	16.80	0.080949235166052638	0.00057	0.07238	0.13262	N	AEFCI	0.065923	0.12884	N	-0.924847551878464	0.10263	0.4896058	-0.843139383567271	0.13453	0.6979405	0.0132140536699464	0.12433	0.487112	0.14033	0	0.59043	0.45803	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.49	2.69	0.30923	-0.172000	0.09858	0.548000	0.19395	0.599000	0.40250	0.000000	0.06391	0.008000	0.19753	0.813000	0.38311	0.1769:0.4335:0.0:0.3895	3.621	0.07640	793	0.45818	Serpin domain|Serpin domain;Serpin domain|Serpin domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.5	13250.74	134	chr14	94497802	.	C	T	13250.74	.	AC=21;AF=0.500;AN=42;BaseQRankSum=-9.980e-01;DP=3035;ExcessHet=54.0936;FS=263.453;InbreedingCoeff=-1.0000;MLEAC=21;MLEAF=0.500;MQ=60.00;MQRankSum=0.00;QD=4.70;ReadPosRankSum=-4.390e-01;SOR=12.654	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:90,59:149:99:.:.:484,0,1510	0	0	21	0
chr14	96328709	96328709	G	C	exonic	ATG2B	.	nonsynonymous SNV	ATG2B:NM_018036:exon13:c.C1939G:p.L647V,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.38	T	0.997	D	0.991	D	0.000	U	1.000	D	2.075	M	2.88	T	-1.167	T	0.084	T	0.524	4.134	21.3	5.84	2.779	6.934	20.147	0.190	0.0210505278955	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.089	0.32141	T	0.126	0.35205	T	0.997	0.70673	D	0.991	0.79672	D	0.000024	0.55875	U	0.000000	0.99996	0.52935	D	1.84	0.48285	L	2.88	0.10291	T	-1.24	0.31375	N	0.642	0.65416	-1.1675	0.00589	T	0.084	0.32814	T	10	0.61223567	0.67508	D	0.021051	0.43757	T	0.190	0.46781	0.198	0.11110	0.586816528483	0.58355	0.3201478662071291	0.31927	0.652725768522	0.58449	0.597697973251	0.52579	T	0.005137	0.04581	T	-0.0899762	0.38080	T	-0.367021	0.37237	T	0.884093582630157	0.53431	D	0.913309	0.69109	D	0.17750946	0.38721	0.15349935	0.36067	0.17750946	0.38720	0.15349935	0.36066	-4.522	0.31175	T	.	.	0.095	0.14888	B	.	.	5.100309	0.85214	28.5	0.99806771792025484	0.89085	0.98731	0.86131	D	AEFBI	0.733095	0.67964	D	0.75656352154125	0.83333	7.989826	0.766028455875063	0.87348	9.19159	0.999996270545633	0.74766	0.651	0.46895	0	0.601575	0.49859	0	0.658983	0.55881	0	0.683762	0.67416	0	.	.	5.84	5.84	0.93373	7.339000	0.78520	11.847000	0.97966	0.614000	0.49286	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:1.0:0.0	20.147	0.98079	966	0.07191	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08824	76.72	34	chr14	96328709	.	G	C	76.72	.	AC=3;AF=0.088;AN=34;BaseQRankSum=-9.610e-01;DP=932;ExcessHet=0.3300;FS=122.093;InbreedingCoeff=-0.1451;MLEAC=3;MLEAF=0.088;MQ=60.00;MQRankSum=0.00;QD=0.56;ReadPosRankSum=0.114;SOR=9.490	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:44,13:57:31:0|1:96328709_G_C:31,0,1320:96328709	14	0	3	4
chr14	96328715	96328715	G	C	exonic	ATG2B	.	nonsynonymous SNV	ATG2B:NM_018036:exon13:c.C1933G:p.L645V,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.53	T	0.802	P	0.184	B	0.000	U	0.999	D	1.79	L	2.78	T	-1.038	T	0.027	T	0.612	3.086	16.30	5.84	2.779	5.501	14.927	0.089	0.0109553308418	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.86e-07	1.71e-05	1.365e-06	0	9.013e-07	0	0	.	.	0	0	0	0	0	0	9.013e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.126	0.27194	T	0.157	0.31730	T	0.802	0.45105	P	0.184	0.35999	B	0.000461	0.44317	U	0.093440	0.99902	0.45899	D	1.355	0.33814	L	2.78	0.11298	T	-0.8	0.22078	N	0.43	0.46928	-1.0376	0.18048	T	0.027	0.11529	T	10	0.27002215	0.44531	T	0.010955	0.28062	T	0.089	0.25827	0.241	0.17371	0.481321013822	0.47762	0.285937600743724	0.28506	0.652725768522	0.58449	0.546917438507	0.45422	T	0.001307	0.00783	T	-0.0890419	0.38234	T	-0.365679	0.37394	T	0.912488400936127	0.56841	D	0.844016	0.52137	T	0.1511111	0.34369	0.108453274	0.26125	0.1511111	0.34368	0.108453274	0.26125	-4.536	0.31356	T	.	.	0.093	0.14108	B	.	.	3.546023	0.49826	22.8	0.99518916642557653	0.69100	0.97778	0.77065	D	AEFBI	0.585571	0.58394	D	0.354162227763407	0.58958	4.071638	0.464947464439595	0.65682	4.854823	0.999992539104278	0.74766	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	5.885000	0.69480	11.847000	0.97966	0.614000	0.49286	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:0.857:0.143	14.927	0.70531	966	0.07191	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07895	73.55	37	chr14	96328715	.	G	C	73.55	.	AC=3;AF=0.079;AN=38;BaseQRankSum=-1.987e+00;DP=871;ExcessHet=0.3300;FS=110.264;InbreedingCoeff=-0.1186;MLEAC=3;MLEAF=0.079;MQ=60.00;MQRankSum=0.00;QD=0.55;ReadPosRankSum=0.178;SOR=8.635	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:43,12:55:27:0|1:96328709_G_C:27,0,1345:96328709	16	0	3	2
chr14	104943471	104943471	T	A	exonic	AHNAK2	.	nonsynonymous SNV	AHNAK2:NM_001350929:exon7:c.A11680T:p.T3894S	.	.	425	1092	5	0	0	5	0.00228415	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.55	T	0.033	B	0.051	B	.	.	1.000	N	-2.345	N	5.79	T	-0.945	T	0.001	T	0.108	-0.840	0.573	-4.77	-1.179	-3.429	4.038	0.030	.	.	0.00539137	0.0021	0.0006	0.0003	0.0103	0	0.0001	0.0078	0.0086	0.0011526	30	26028	rs200747295	0.0010	0.0011	0.0008	0.0012	0.0090	0.0010	0.0010	0.0085	0.0083	0.0003	0.0002	3.828e-05	0.0051	5.627e-05	0.0014	0.0002	0.0045	0.0090	0.0013	0.0014	0.0009	0.0017	0.0174	0.0011	0.0011	0.0143	0.0132	0.0006	0	0.0001	0	0.0131	9.52e-05	0	0.0002	0.0044	0.0174	1.0	0.00964	T	1.0	0.01155	T	0.033	0.20350	B	0.051	0.25434	B	.	.	.	.	1	0.08975	N	-1.195	0.00846	N	5.79	0.00674	T	1.33	0.00912	N	0.035	0.01004	-0.9453	0.41764	T	0.001	0.00222	T	9	0.00428766	0.00086	T	.	.	.	0.030	0.07022	0.113	0.02240	0.0138822411134	0.00435	0.010286315505471466	0.00989	.	.	0.222926497459	0.01486	T	0.016224	0.13452	T	-0.710354	0.00032	T	-0.78212	0.02390	T	0.00218717536415347	0.00023	T	0.185981	0.01934	T	0.016578494	0.00207	0.022815857	0.00300	0.016578494	0.00207	0.022815857	0.00300	2.293	0.00039	T	.	.	0.079	0.07130	B	.	.	-1.824141	0.00149	0.002	0.16891457384060568	0.00471	0.00470	0.02253	N	AEFBI	.	.	.	-2.45546062015118	0.00020	0.0008736942	-2.38746393680055	0.00042	0.001844221	0.00411138777418775	0.10422	0.706548	0.73137	0	0.588066	0.40923	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	4.19	-4.77	0.02985	-3.735000	0.00426	-20.000000	0.00162	-0.677000	0.04263	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.233:0.0979:0.0754:0.5937	4.038	0.09220	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	0.02381	10199.98	261	chr14	104943471	.	T	A	10199.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.77;DP=5890;ExcessHet=0.0000;FS=3.221;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=58.72;MQRankSum=-7.046e+00;QD=20.90;ReadPosRankSum=-1.096e+00;SOR=0.931	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:228,260:488:99:0|1:104943463_T_C:10214,0,8729:104943463	20	0	1	0
chr14	104944175	104944175	G	A	exonic	AHNAK2	.	nonsynonymous SNV	AHNAK2:NM_001350929:exon7:c.C10976T:p.A3659V	.	.	433	1058	31	0	0	31	0.0144388	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.33	T	0.012	B	0.01	B	0.300	U	1.000	N	1.245	L	5.83	T	-0.904	T	0.003	T	0.107	1.504	10.98	-1.91	-0.238	-0.321	4.779	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	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	272.98	362	chr14	104944175	.	G	A	272.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.884;DP=6515;ExcessHet=0.0000;FS=12.936;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=58.88;MQRankSum=-1.929e+01;QD=0.64;ReadPosRankSum=-1.552e+00;SOR=2.309	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:393,35:428:99:0|1:104944165_C_G:287,0,16397:104944165	20	0	1	0
chr14	104944178	104944178	G	C	exonic	AHNAK2	.	nonsynonymous SNV	AHNAK2:NM_001350929:exon7:c.C10973G:p.T3658R	.	.	433	1072	17	0	0	17	0.00786673	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.55	T	0.017	B	0.008	B	0.046	U	1.000	N	1.775	L	4.71	T	-0.885	T	0.008	T	0.173	0.854	8.455	-1.33	-0.539	-1.160	5.487	0.032	0.00946792399026	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1183612492	2.053e-06	3.215e-05	1.362e-06	2.752e-06	2.32e-05	5.5e-07	1.5e-07	3.85e-06	1.44e-06	0	0	0	0	0	0	8.996e-07	0	2.32e-05	6.766e-06	0.0012	1.322e-05	0	2.543e-05	0	0	.	.	2.543e-05	0	0	0	0	0	0	0	0	0	0.556	0.06461	T	0.654	0.06643	T	0.017	0.17573	B	0.008	0.13708	B	0.045649	0.01949	U	4.017220	1	0.08975	N	1.095	0.27400	L	4.71	0.01655	T	-0.41	0.14000	N	0.087	0.06454	-0.8847	0.49382	T	0.008	0.02679	T	10	0.055714905	0.06134	T	0.009468	0.24809	T	0.032	0.07718	0.229	0.15556	0.0138822411134	0.00435	0.004878085995868745	0.00459	.	.	0.215819358826	0.01082	T	0.020774	0.16293	T	-0.314783	0.07334	T	-0.689941	0.06392	T	0.0369846471797902	0.03153	T	0.308469	0.05950	T	0.026394365	0.01691	0.034579005	0.02549	0.026394365	0.01691	0.034579005	0.02549	-6.347	0.49094	T	.	.	0.087	0.11172	B	.	.	-0.339081	0.02450	0.281	0.62540945077157595	0.06989	0.01830	0.05681	N	AEFBI	.	.	.	-1.28187589143296	0.03893	0.1747631	-1.36185924592355	0.03668	0.1715764	1.3216691354537E-4	0.05486	0.706548	0.73137	0	0.547309	0.14657	0	0.602189	0.34648	0	0.714379	0.83352	0	.	.	4.4	-1.33	0.08693	-1.086000	0.03497	-20.000000	0.00162	-1.018000	0.01743	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0856:0.3845:0.4154:0.1145	5.487	0.16046	982	0.03397	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	158.98	362	chr14	104944178	.	G	C	158.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=4.97;DP=6508;ExcessHet=0.0000;FS=10.739;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=58.87;MQRankSum=-1.974e+01;QD=0.38;ReadPosRankSum=-2.021e+00;SOR=2.399	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:389,32:421:99:0|1:104944165_C_G:173,0,16238:104944165	20	0	1	0
chr14	104944187	104944187	G	A	exonic	AHNAK2	.	nonsynonymous SNV	AHNAK2:NM_001350929:exon7:c.C10964T:p.A3655V	.	.	432	1078	12	0	0	12	0.00553506	.	.	2371904	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.37	T	0.012	B	0.005	B	0.003	U	1.000	N	0.77	N	5.63	T	-0.965	T	0.003	T	0.068	-0.811	0.646	-6.83	-2.872	-0.935	14.090	0.057	0.00404983418982	.	0.000199681	0.0003	0.0002	0.0009	0	0	0.0004	0	6.056e-05	0.0002846	44	154602	rs201313753	0.0006	0.0006	0.0006	0.0006	0.0008	0.0005	0.0005	0.0007	0.0006	8.969e-05	0.0008	3.827e-05	0	0	0	0.0007	0.0004	6.957e-05	0.0004	0.0012	0.0004	0.0004	0.0014	0.0003	0.0003	0.0009	0.0008	0.0003	0	0.0014	0	0.0002	0	0	0.0004	0	0	0.181	0.21884	T	0.199	0.27679	T	0.012	0.16265	B	0.005	0.11217	B	0.002864	0.35804	U	0.000000	1	0.08975	N	-0.345	0.03330	N	5.63	0.00800	T	0.37	0.03639	N	0.06	0.03175	-0.9647	0.38270	T	0.003	0.00800	T	10	0.008428931	0.00191	T	0.00405	0.09650	T	0.057	0.16321	.	.	0.0138822411134	0.00435	0.0037587487726221257	0.00351	.	.	0.184906214476	0.00148	T	0.015985	0.13301	T	-0.680879	0.00047	T	-0.801253	0.01872	T	0.0283894649983659	0.01745	T	0.533547	0.17787	T	0.014713073	0.00105	0.038435727	0.03713	0.014713073	0.00105	0.038435727	0.03713	-4.635	0.32608	T	.	.	0.108	0.20508	B	.	.	-0.017385	0.04162	1.002	0.26437583856384472	0.01266	0.01340	0.04609	N	AEFBI	.	.	.	-2.26900927051647	0.00054	0.002296346	-2.36564161484216	0.00047	0.002074123	0.925817267205096	0.26829	0.706548	0.73137	0	0.547309	0.14657	0	0.602189	0.34648	0	0.714379	0.83352	0	.	.	3.42	-6.83	0.01532	-0.839000	0.04475	0.000000	0.13247	-1.245000	0.01309	0.000000	0.06391	0.134000	0.23028	0.000000	0.00833	0.3732:0.0958:0.531:0.0	14.090	0.64511	982	0.03397	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	44.98	362	chr14	104944187	.	G	A	44.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.04;DP=6486;ExcessHet=0.0000;FS=37.515;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=58.81;MQRankSum=-1.876e+01;QD=0.11;ReadPosRankSum=-3.824e+00;SOR=3.736	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:371,28:399:59:0|1:104944165_C_G:59,0,15494:104944165	20	0	1	0
chr14	104946204	104946204	C	0	exonic	AHNAK2	.	.	.	.	.	438	157	442	479	6	1406	0.816803	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6429	106384.42	204	chr14	104946204	.	C	T,*	106384.42	.	AC=27,1;AF=0.643,0.024;AN=42;BaseQRankSum=-9.490e-01;DP=5401;ExcessHet=6.1794;FS=4.082;InbreedingCoeff=-0.2857;MLEAC=27,1;MLEAF=0.643,0.024;MQ=52.30;MQRankSum=-1.434e+01;QD=21.17;ReadPosRankSum=-1.256e+00;SOR=0.468	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:192,112,0:304:99:0|1:104946204_C_T:4109,0,7716,4687,8054,12741:104946204	1	7	12	0
chr14	104946840	104946840	C	T	exonic	AHNAK2	.	nonsynonymous SNV	AHNAK2:NM_001350929:exon7:c.G8311A:p.E2771K	.	.	425	1031	66	0	0	66	0.031015	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.76	T	0.003	B	0.005	B	.	.	1.000	N	1.61	L	5.72	T	-0.908	T	0.003	T	0.055	0.664	7.558	1.0	0.031	0.201	7.453	0.053	0.00516765144614	.	.	0.0001	0.0011	0	0.0001	0	1.501e-05	0	0.0001	3.84e-05	1	26028	rs765833389	5.301e-05	0.0026	3.01e-05	7.62e-05	0.0005	4.305e-05	3.978e-05	0.0003	0.0003	0.0003	2.248e-05	0	0.0005	0	0.0005	1.804e-05	0.0003	7.087e-05	0.0003	0.0066	0.0003	0.0003	0.0012	0.0002	0.0002	0.0009	0.0008	0.0012	0	0	0	0	0	0	1.491e-05	0	0.0002	0.35	0.12305	T	0.304	0.20100	T	0.003	0.11197	B	0.005	0.11217	B	.	.	.	.	1	0.08975	N	1.395	0.35261	L	5.72	0.00726	T	-1.82	0.42763	N	0.042	0.01498	-0.9083	0.47061	T	0.003	0.00897	T	9	0.02272144	0.00575	T	0.005168	0.13156	T	0.053	0.14996	.	.	0.0138822411134	0.00435	0.01070317848971027	0.01031	.	.	0.231759011745	0.02101	T	0.021887	0.16970	T	-0.38292	0.02986	T	-0.787815	0.02225	T	0.0484263979648418	0.05219	T	0.553645	0.19140	T	0.027281942	0.01897	0.058093388	0.10674	0.027281942	0.01897	0.058093388	0.10674	-8.163	0.62175	D	.	.	0.151	0.33365	B	.	.	0.952869	0.13291	9.792	0.63652803078570641	0.07281	0.04330	0.09889	N	AEFBI	.	.	.	-1.56462695524314	0.01451	0.06330527	-1.61025239373678	0.01594	0.07229178	1.11558074033666E-4	0.05269	0.706548	0.73137	0	0.547309	0.14657	0	0.602189	0.34648	0	0.714379	0.83352	0	.	.	2.86	1.0	0.18999	-0.219000	0.09233	-2.557000	0.03611	-2.359000	0.00306	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.7292:0.0:0.2708	7.453	0.26421	982	0.03397	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.07143	621.68	200	chr14	104946840	.	C	T	621.68	.	AC=3;AF=0.071;AN=42;BaseQRankSum=0.271;DP=5344;ExcessHet=0.3300;FS=9.545;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=57.91;MQRankSum=-8.933e+00;QD=0.51;ReadPosRankSum=-3.710e+00;SOR=1.332	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:399,31:430:65:0|1:104946840_C_T:65,0,16646:104946840	18	0	3	0
chr14	104949281	104949281	G	A	exonic	AHNAK2	.	nonsynonymous SNV	AHNAK2:NM_001350929:exon7:c.C5870T:p.P1957L	.	.	842	668	11	1	0	13	0.00963677	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.14	T	0.029	B	0.009	B	.	.	1.000	N	2.37	M	4.88	T	-0.993	T	0.009	T	0.07	0.929	8.784	0.194	-0.257	0.787	7.173	0.081	.	.	0.0670927	0.0002	0.0004	0.0001	0.0001	0	0.0002	0	8.326e-05	0.0033247	514	154602	rs561933027	7.826e-05	0.0005	7.26e-05	8.398e-05	0.0011	6.392e-05	5.83e-05	0.0004	0.0003	0.0005	0.0001	0	0.0001	0	0.0011	1.443e-05	0.0001	0.0005	7.749e-05	0.0011	5.681e-05	9.914e-05	0.0001	3.825e-05	2.801e-05	5.417e-05	3.537e-05	0.0001	0	0	0	0	0	0	5.148e-05	0.0007	0	0.007	0.59928	D	0.006	0.70582	D	0.029	0.19866	B	0.009	0.14300	B	.	.	.	.	1	0.08975	N	1.535	0.38868	L	4.88	0.01439	T	-6.02	0.89684	D	0.08	0.05542	-0.9927	0.31906	T	0.009	0.03227	T	9	0.0025387108	0.00038	T	.	.	.	0.081	0.23632	.	.	0.0611884634855	0.05136	0.03771500750535149	0.03717	.	.	0.19974796474	0.00449	T	0.050646	0.28655	T	-0.668646	0.00056	T	-0.740025	0.03889	T	0.0220577902218616	0.00915	T	0.49705	0.15447	T	0.05052777	0.09141	0.0893155	0.20880	0.05052777	0.09141	0.0893155	0.20879	-6.587	0.50953	T	.	.	0.092	0.13737	B	.	.	1.220310	0.16140	12.34	0.43822318891268208	0.03326	0.12080	0.17047	N	AEFBI	.	.	.	-1.62279424807614	0.01155	0.05018956	-1.68153671317487	0.01221	0.05500561	9.65762816530308E-5	0.04910	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.491896	0.07777	0	.	.	4.25	0.194	0.14424	0.826000	0.27061	-2.857000	0.03290	-1.837000	0.00584	0.010000	0.18352	0.000000	0.08366	0.000000	0.00833	0.2283:0.0:0.6512:0.1204	7.173	0.24907	982	0.03397	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07692	372.54	1829	chr14	104949281	.	G	A	372.54	.	AC=2;AF=0.077;AN=26;BaseQRankSum=-2.823e+00;DP=1829;ExcessHet=0.1773;FS=29.490;InbreedingCoeff=0.1289;MLEAC=3;MLEAF=0.115;MQ=42.91;MQRankSum=1.22;QD=7.30;ReadPosRankSum=3.71;SOR=0.006	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:26,8:34:99:0|1:104949256_A_G:258,0,1068:104949256	11	0	2	8
chr14	104949302	104949302	C	T	exonic	AHNAK2	.	nonsynonymous SNV	AHNAK2:NM_001350929:exon7:c.G5849A:p.G1950D	.	.	.	.	.	.	.	.	.	.	.	3255090	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.56	T	0.998	D	0.897	P	.	.	1.000	N	2.28	M	4.13	T	-1.075	T	0.018	T	0.225	0.528	6.858	-6.01	-1.011	0.619	5.067	0.079	0.00204880542899	.	.	2.331e-05	0	0	0	0	2.43e-05	0	8.322e-05	3.84e-05	1	26028	rs781128485	7.506e-05	0.0004	3.524e-05	0.0001	0.0007	6.083e-05	5.59e-05	0.0005	0.0005	0.0002	0	0	7.628e-05	0	0	1.442e-05	0.0002	0.0007	0.0001	0.0004	0.0001	7.772e-05	0.0003	5.769e-05	4.466e-05	0.0001	9.43e-05	0.0002	0	0	0	0	0	0	2.51e-05	0	0.0003	0.087	0.32453	T	0.098	0.39040	T	0.998	0.73220	D	0.897	0.63631	P	.	.	.	.	1	0.08975	N	2.295	0.65404	M	4.13	0.02865	T	-1.2	0.30555	N	0.139	0.13769	-1.0751	0.08328	T	0.018	0.07423	T	9	0.14253703	0.27071	T	0.002049	0.03748	T	0.079	0.23065	0.338	0.32816	0.0297737177859	0.01360	0.010330589381271002	0.00994	.	.	0.217171877623	0.01153	T	0.022347	0.17246	T	-0.299869	0.08672	T	-0.668518	0.07704	T	0.244044899940491	0.22604	T	0.274073	0.04660	T	0.04568146	0.07518	0.05429044	0.09308	0.04568146	0.07518	0.05429044	0.09308	-8.36	0.63498	D	.	.	0.173	0.38025	B	.	.	0.536375	0.09050	5.833	0.71242507928752474	0.09563	0.02673	0.07298	N	AEFBI	.	.	.	-0.831010570298139	0.12523	0.610909	-1.15739752751733	0.06635	0.3200831	0.0231572066422917	0.13486	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.714379	0.83352	0	.	.	3.55	-6.01	0.02015	-1.814000	0.01817	-10.848000	0.00659	-1.994000	0.00453	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.2469:0.2332:0.4415:0.0783	5.067	0.13923	982	0.03397	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	244.2	7	chr14	104949302	.	C	T	244.2	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.78;DP=1866;ExcessHet=0.0000;FS=11.139;InbreedingCoeff=-0.0356;MLEAC=1;MLEAF=0.024;MQ=36.52;MQRankSum=0.010;QD=16.28;ReadPosRankSum=-3.782e+00;SOR=4.174	GT:AD:DP:GQ:PL	0/1:8,7:15:99:258,0,315	20	0	1	0
chr14	104949306	104949306	T	C	exonic	AHNAK2	.	nonsynonymous SNV	AHNAK2:NM_001350929:exon7:c.A5845G:p.T1949A	.	.	890	610	19	3	0	25	0.0200803	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.79	T	0.0	B	0.0	B	.	.	1.000	N	-1.425	N	5.92	T	-0.974	T	0.001	T	0.022	-0.352	2.336	-3.46	-2.072	-0.254	6.357	0.016	.	.	0.165136	0.0004	0.0006	0	0.0001	0	0.0003	0	0.0010	0.0069598	1076	154602	rs201406401	0.0004	0.0031	0.0003	0.0005	0.0018	0.0004	0.0004	0.0015	0.0014	0.0014	0.0003	0.0006	0.0005	2.672e-05	0.0003	0.0002	0.0006	0.0018	0.0005	0.0027	0.0005	0.0005	0.0010	0.0004	0.0003	0.0007	0.0006	0.0010	0	0.0002	0	0	0	0	0.0003	0	0.0004	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	-0.64	0.02118	N	5.92	0.00621	T	0.87	0.01688	N	0.022	0.00372	-0.9740	0.36344	T	0.001	0.00287	T	9	0.0027029812	0.00042	T	.	.	.	0.016	0.02506	.	.	0.0138822411134	0.00435	0.00708365487551219	0.00675	.	.	0.196304097772	0.00357	T	0.015964	0.13288	T	-0.459638	0.00988	T	-0.898015	0.00517	T	0.000721562574598981	0.00007	T	0.190681	0.02037	T	0.02292779	0.00991	0.037992395	0.03572	0.02292779	0.00991	0.037992395	0.03571	0.421	0.00230	T	.	.	0.056	0.00470	B	.	.	-1.055756	0.00696	0.020	0.36831802887168441	0.02392	0.00115	0.00727	N	AEFBI	.	.	.	-2.08686289980388	0.00137	0.005858008	-2.06374372785095	0.00223	0.009847368	5.71204682153802E-4	0.07363	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.714379	0.83352	0	.	.	3.87	-3.46	0.04465	-0.796000	0.04680	-15.353000	0.00361	-0.939000	0.02101	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.3694:0.2156:0.415	6.357	0.20613	982	0.03397	.	.	.	.	.	.	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	0.1923	1041.93	10	chr14	104949306	.	T	C	1041.93	.	AC=5;AF=0.192;AN=26;BaseQRankSum=-2.730e-01;DP=1943;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=0.5554;MLEAC=7;MLEAF=0.269;MQ=56.75;MQRankSum=-1.450e+01;QD=4.53;ReadPosRankSum=0.363;SOR=0.732	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,14:14:42:.:.:627,42,0	10	2	1	8
chr14	104949324	104949324	C	T	exonic	AHNAK2	.	nonsynonymous SNV	AHNAK2:NM_001350929:exon7:c.G5827A:p.A1943T	.	.	455	1049	14	4	0	22	0.0103774	.	.	2807471	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.57	T	0.999	D	0.958	D	.	.	1.000	N	1.96	M	5.55	T	-0.931	T	0.008	T	0.088	2.469	14.22	0.935	0.149	0.432	5.083	0.021	.	.	0.0163738	0.0002	0.0009	0	0.0002	0	0.0001	0	0.0002	0.0005498	85	154602	rs200010377	5.587e-05	0.0005	5.654e-05	5.519e-05	0.0006	4.516e-05	4.146e-05	0.0004	0.0004	0.0006	0.0002	0	5.066e-05	0	0.0002	1.882e-05	0.0002	0.0001	0.0002	0.0008	0.0002	0.0003	0.0005	0.0002	0.0001	0.0004	0.0003	0.0005	0	9.124e-05	0	0.0002	0	0	4.935e-05	0.0007	0	0.34	0.12714	T	0.41	0.14544	T	0.999	0.77913	D	0.958	0.70027	D	.	.	.	.	1	0.08975	N	1.04	0.26193	L	5.55	0.00874	T	-1.07	0.27876	N	0.079	0.05414	-0.9307	0.44036	T	0.008	0.02720	T	9	0.0046064258	0.00096	T	.	.	.	0.021	0.04004	.	.	0.0401082797425	0.02173	0.00525549496637017	0.00496	.	.	0.213303595781	0.00959	T	0.020106	0.15893	T	-0.567867	0.00228	T	-0.755918	0.03260	T	0.0209839604794979	0.00799	T	0.377062	0.09013	T	0.015034415	0.00119	0.036937363	0.03242	0.015034415	0.00119	0.036937363	0.03241	-6.702	0.51825	T	.	.	0.077	0.06479	B	.	.	0.220959	0.06035	2.475	0.9947742150937795	0.66687	0.01841	0.05704	N	AEFBI	.	.	.	-0.425225448838182	0.24588	1.328673	-0.675545245549276	0.17572	0.9350048	1.65893175846788E-4	0.05721	0.706548	0.73137	0	0.573888	0.26702	0	0.602189	0.34648	0	0.714379	0.83352	0	.	.	3.87	0.935	0.18608	-1.254000	0.02984	-8.576000	0.00947	-0.944000	0.02069	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1662:0.6467:0.0:0.1871	5.083	0.14002	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	0.07143	616.66	42	chr14	104949324	.	C	T	616.66	.	AC=3;AF=0.071;AN=42;BaseQRankSum=0.00;DP=2344;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=0.6392;MLEAC=3;MLEAF=0.071;MQ=46.39;MQRankSum=0.112;QD=30.83;ReadPosRankSum=0.00;SOR=1.179	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,8:8:24:1|1:104949256_A_G:360,24,0:104949256	19	1	1	0
chr14	104949354	104949354	T	C	exonic	AHNAK2	.	nonsynonymous SNV	AHNAK2:NM_001350929:exon7:c.A5797G:p.T1933A	.	.	449	1071	2	0	0	2	0.000932836	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.79	T	0.012	B	0.034	B	.	.	1.000	N	0.48	N	4.11	T	-0.895	T	0.005	T	0.215	0.077	4.415	1.35	0.370	0.346	3.059	0.026	0.00530944409628	.	.	0.0003	0.0019	0.0003	0.0003	0	6.254e-05	0	0.0004	0.000304	47	154602	rs199921891	5.22e-05	0.0003	5.404e-05	5.035e-05	0.0008	4.265e-05	3.89e-05	0.0005	0.0004	0.0008	6.982e-05	0	5.047e-05	1.941e-05	0	1.371e-05	0.0002	0.0002	9.433e-05	0.0005	0.0001	4.859e-05	0.0002	5.419e-05	4.261e-05	8.75e-05	6.174e-05	0.0002	0	0	0	0	0	0	7.261e-05	0.0006	0	0.779	0.03298	T	1.0	0.01155	T	0.012	0.16265	B	0.034	0.22546	B	.	.	.	.	1	0.20482	N	0.66	0.16226	N	4.11	0.02916	T	-0.62	0.18248	N	0.154	0.15888	-0.8953	0.48455	T	0.005	0.01725	T	9	0.013001382	0.00277	T	0.005309	0.13587	T	0.026	0.05648	.	.	0.0138822411134	0.00435	0.00816948717190958	0.00781	.	.	0.236769318581	0.02507	T	0.016676	0.13737	T	-0.290814	0.09555	T	-0.655511	0.08573	T	0.00312814630424437	0.00033	T	0.418758	0.11073	T	0.015926229	0.00166	0.02038706	0.00133	0.015926229	0.00165	0.02038706	0.00133	-3.04	0.10618	T	.	.	0.096	0.15160	B	.	.	0.365243	0.07376	4.000	0.55594911356506382	0.05375	0.01237	0.04368	N	AEFBI	.	.	.	-1.08201176734525	0.06975	0.322639	-1.06478520896596	0.08402	0.4129391	1.42626948549438E-4	0.05573	0.706548	0.73137	0	0.573888	0.26702	0	0.602189	0.34648	0	0.714379	0.83352	0	.	.	3.87	1.35	0.21078	-0.308000	0.08196	-20.000000	0.00162	0.607000	0.46521	0.000000	0.06391	0.000000	0.08366	0.005000	0.06747	0.0:0.2131:0.2467:0.5403	3.059	0.05821	982	0.03397	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.04762	170.1	65	chr14	104949354	.	T	C	170.1	.	AC=2;AF=0.048;AN=42;DP=2709;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=0.9979;MLEAC=2;MLEAF=0.048;MQ=33.71;QD=21.26;SOR=0.693	GT:AD:DP:GQ:PL	1/1:0,8:8:24:198,24,0	20	1	0	0
chr14	104950538	104950538	G	A	exonic	AHNAK2	.	nonsynonymous SNV	AHNAK2:NM_001350929:exon7:c.C4613T:p.A1538V	.	.	428	1087	7	0	0	7	0.00320954	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.32	T	0.486	P	0.23	B	.	.	1.000	N	0.02	N	6.54	T	-0.971	T	0.000	T	0.074	0.652	7.499	-2.85	-0.553	-1.413	4.426	0.028	.	0.0032	0.0179712	0.0066	0.0113	0.0028	0.0447	0.0008	0.0019	0.0068	0.0077	0.0068004	177	26028	rs185154010	0.0038	0.0039	0.0038	0.0038	0.0311	0.0037	0.0037	0.0296	0.0290	0.0096	0.0026	0.0009	0.0311	0.0008	0.0026	0.0022	0.0096	0.0087	0.0065	0.0068	0.0062	0.0067	0.0490	0.0061	0.0060	0.0439	0.0420	0.0098	0	0.0029	0.0003	0.0490	0.0009	0.0035	0.0023	0.0100	0.0200	0.174	0.22486	T	0.273	0.22154	T	0.486	0.36871	P	0.23	0.38212	B	.	.	.	.	1	0.08975	N	0.55	0.14455	N	6.54	0.00525	T	-1.38	0.34198	N	0.05	0.02179	-0.9705	0.37094	T	0.000	0.00114	T	9	0.003598839	0.00065	T	.	.	.	0.028	0.06331	.	.	0.0297737177859	0.01360	0.0014970766985751634	0.00138	.	.	0.216862082481	0.01137	T	0.020729	0.16269	T	-0.699695	0.00037	T	-0.73686	0.04024	T	0.00540246813598207	0.00059	T	0.343166	0.07474	T	0.027432075	0.01935	0.038549893	0.03748	0.027432075	0.01935	0.038549893	0.03747	-5.533	0.42176	T	.	.	0.074	0.05274	B	.	.	-0.790880	0.01125	0.052	0.9503705482766367	0.26039	0.01896	0.05817	N	AEFBI	.	.	.	-1.33397493956742	0.03294	0.146895	-1.45999011727532	0.02681	0.1237557	2.62773855013347E-4	0.06244	0.67177	0.52595	0	0.588015	0.36545	0	0.602189	0.34648	0	0.711	0.71501	0	.	.	2.59	-2.85	0.05392	0.636000	0.24333	-11.791000	0.00575	-0.566000	0.04804	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.3492:0.0:0.4924:0.1584	4.426	0.10931	982	0.03397	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	6528.08	334	chr14	104950538	.	G	A	6528.08	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-2.020e-01;DP=5772;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=49.29;MQRankSum=-1.197e+00;QD=32.64;ReadPosRankSum=1.62;SOR=0.345	GT:AD:DP:GQ:PL	1/1:1,199:200:99:6556,593,0	20	1	0	0
chr15	20534458	20534458	C	T	exonic	GOLGA6L6	.	nonsynonymous SNV	GOLGA6L6:NM_001145004:exon8:c.G1976A:p.R659Q,	.	.	.	.	.	.	.	.	.	.	.	3258421	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.86	T	0.066	B	0.001	B	.	.	1.000	N	0.55	N	3.02	T	-0.929	T	0.010	T	0.052	-0.075	3.636	.	0.159	0.061	2.918	0.014	0.00291307773965	.	.	0.0002	0.0025	0	0	0	0	0	0.0001	1.94e-05	3	154602	rs763570485	6.093e-05	7.318e-05	7.065e-05	5.095e-05	0.0018	4.984e-05	4.617e-05	0.0014	0.0012	0.0018	0.0001	0	3.265e-05	0	0	1.948e-05	9.285e-05	1.384e-05	0.0004	0.0007	0.0005	0.0004	0.0015	0.0004	0.0003	0.0012	0.0010	0.0015	0	0.0004	0	0	0	0	3.078e-05	0.0010	0	.	.	.	0.568	0.08870	T	.	.	.	.	.	.	.	.	.	.	0.999999	0.08975	N	.	.	.	.	.	.	.	.	.	0.086	0.06322	-0.9288	0.44313	T	0.010	0.03811	T	8	0.009676278	0.00218	T	0.002913	0.06162	T	.	.	.	.	0.0297737177859	0.01360	0.0017871497685102878	0.00165	.	.	0.535874128342	0.43863	T	0.003638	0.03050	T	-0.403301	0.02203	T	-0.81709	0.01512	T	0.00903102671514302	0.00113	T	0.212379	0.02593	T	0.03492898	0.04013	0.053691123	0.09093	0.03492898	0.04013	0.053691123	0.09093	-4.458	0.30335	T	.	.	0.075	0.05404	B	.	.	0.499783	0.08688	5.461	0.43685413079978208	0.03306	0.00098	0.00638	N	AEFI	0.012926	0.00156	N	-1.35232713684295	0.03101	0.1379792	-1.45266475331078	0.02746	0.1268716	1.09772034850553E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	.	.	.	-2.181000	0.01342	-5.598000	0.01661	-0.794000	0.03222	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.4916:0.508:2.0E-4:2.0E-4	2.918	0.05407	1000	0.00083	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	454.98	51	chr15	20534458	.	C	T	454.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.18;DP=899;ExcessHet=0.0000;FS=6.159;InbreedingCoeff=-0.0246;MLEAC=1;MLEAF=0.024;MQ=54.09;MQRankSum=0.503;QD=8.58;ReadPosRankSum=1.73;SOR=0.394	GT:AD:DP:GQ:PL	0/1:33,20:53:99:469,0,839	20	0	1	0
chr15	20534634	20534718	CTCCTCCTGCTCCCGTATCTTCTCCTCCTGCTCCCTTATCTTCTCCTCCTGCTTCCACATCTTCTCCTCCTGCTCCTGCCTCTTT	0	exonic	GOLGA6L6	.	.	.	.	.	495	631	268	4	124	400	0.179454	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3684	2232.49	67	chr15	20534634	.	CTCCTCCTGCTCCCGTATCTTCTCCTCCTGCTCCCTTATCTTCTCCTCCTGCTTCCACATCTTCTCCTCCTGCTCCTGCCTCTTT	C,*	2232.49	.	AC=9,5;AF=0.237,0.132;AN=38;BaseQRankSum=1.18;DP=1927;ExcessHet=14.4320;FS=1.229;InbreedingCoeff=-0.5556;MLEAC=10,5;MLEAF=0.263,0.132;MQ=51.48;MQRankSum=1.62;QD=2.28;ReadPosRankSum=-1.960e-01;SOR=0.791	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:29,4,0:33:99:.:.:109,0,1171,197,1206,1403	5	0	9	2
chr15	20534647	20534647	C	0	exonic	GOLGA6L6	.	.	.	.	.	647	584	57	3	231	294	0.0511779	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.381	649.96	67	chr15	20534647	.	C	*,T	649.96	.	AC=14,2;AF=0.333,0.048;AN=42;BaseQRankSum=0.996;DP=1957;ExcessHet=20.9642;FS=0.000;InbreedingCoeff=-0.6154;MLEAC=14,2;MLEAF=0.333,0.048;MQ=52.26;MQRankSum=0.013;QD=0.62;ReadPosRankSum=0.174;SOR=0.688	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:29,4,0:33:99:.:.:109,0,1171,197,1206,1403	5	0	14	0
chr15	20534663	20534663	G	0	exonic	GOLGA6L6	.	.	.	.	.	528	730	36	1	227	265	0.0253672	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.325	276.43	67	chr15	20534663	.	G	GC,*	276.43	.	AC=1,12;AF=0.025,0.300;AN=40;BaseQRankSum=1.27;DP=1702;ExcessHet=11.8493;FS=0.000;InbreedingCoeff=-0.4737;MLEAC=1,12;MLEAF=0.025,0.300;MQ=50.51;MQRankSum=-1.904e+00;QD=0.35;ReadPosRankSum=0.00;SOR=0.681	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:29,0,4:33:99:.:.:109,197,1403,0,1206,1171	7	0	1	1
chr15	20534664	20534665	CT	0	exonic	GOLGA6L6	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.325	123.44	67	chr15	20534664	.	CT	*,C	123.44	.	AC=12,1;AF=0.300,0.025;AN=40;BaseQRankSum=1.26;DP=1675;ExcessHet=11.8493;FS=1.307;InbreedingCoeff=-0.4745;MLEAC=12,1;MLEAF=0.300,0.025;MQ=49.82;MQRankSum=0.344;QD=0.15;ReadPosRankSum=0.955;SOR=0.777	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:29,4,0:33:99:.:.:109,0,1171,197,1206,1403	7	0	12	1
chr15	20534665	20534665	T	-	exonic	GOLGA6L6	.	frameshift deletion	GOLGA6L6:NM_001145004:exon8:c.1769delA:p.E590Gfs*26,	.	.	554	732	222	4	10	240	0.135773	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0010	0.0047	0.0009	0.0012	0.0086	0.0010	0.0010	0.0071	0.0065	0.0013	0.0035	0.0024	0.0086	0.0024	0.0016	0.0007	0.0012	0.0030	0.0013	0.0023	0.0013	0.0012	0.0017	0.0011	0.0010	0.0014	0.0013	0.0007	0	0.0017	0	0.0011	0.0013	0	0.0017	0.0012	0.0011	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.325	123.44	67	chr15	20534664	.	CT	*,C	123.44	.	AC=12,1;AF=0.300,0.025;AN=40;BaseQRankSum=1.26;DP=1675;ExcessHet=11.8493;FS=1.307;InbreedingCoeff=-0.4745;MLEAC=12,1;MLEAF=0.300,0.025;MQ=49.82;MQRankSum=0.344;QD=0.15;ReadPosRankSum=0.955;SOR=0.777	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:29,4,0:33:99:.:.:109,0,1171,197,1206,1403	7	0	12	1
chr15	20534667	20534686	CCTTATCTTCTCCTCCTGCT	-	exonic	GOLGA6L6	.	frameshift deletion	GOLGA6L6:NM_001145004:exon8:c.1748_1767del:p.K583Rfs*43,	.	.	599	689	226	4	4	238	0.145161	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0018	0.0047	0.0014	0.0023	0.0079	0.0018	0.0017	0.0061	0.0055	0.0015	0.0036	0.0052	0.0079	0.0051	0.0038	0.0014	0.0019	0.0060	0.0022	0.0042	0.0024	0.0021	0.0035	0.0019	0.0018	0.0022	0.0020	0.0012	0	0.0035	0	0.0027	0.0020	0	0.0028	0.0028	0.0033	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	115.09	67	chr15	20534666	.	CCCTTATCTTCTCCTCCTGCT	C,*	115.09	.	AC=1,11;AF=0.028,0.306;AN=36;BaseQRankSum=2.35;DP=1656;ExcessHet=10.3454;FS=0.611;InbreedingCoeff=-0.4288;MLEAC=1,12;MLEAF=0.028,0.333;MQ=49.75;MQRankSum=0.586;QD=0.15;ReadPosRankSum=1.51;SOR=0.756	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:29,0,4:33:99:.:.:109,197,1403,0,1206,1171	6	0	1	3
chr15	20534666	20534686	CCCTTATCTTCTCCTCCTGCT	0	exonic	GOLGA6L6	.	.	.	.	.	599	689	226	4	4	238	0.145161	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	115.09	67	chr15	20534666	.	CCCTTATCTTCTCCTCCTGCT	C,*	115.09	.	AC=1,11;AF=0.028,0.306;AN=36;BaseQRankSum=2.35;DP=1656;ExcessHet=10.3454;FS=0.611;InbreedingCoeff=-0.4288;MLEAC=1,12;MLEAF=0.028,0.333;MQ=49.75;MQRankSum=0.586;QD=0.15;ReadPosRankSum=1.51;SOR=0.756	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:29,0,4:33:99:.:.:109,197,1403,0,1206,1171	6	0	1	3
chr15	20534667	20534667	C	0	exonic	GOLGA6L6	.	.	.	.	.	584	671	32	1	234	268	0.0247093	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.35	276.54	67	chr15	20534667	.	C	*,CA	276.54	.	AC=13,1;AF=0.325,0.025;AN=40;BaseQRankSum=2.81;DP=1654;ExcessHet=14.4320;FS=0.598;InbreedingCoeff=-0.5273;MLEAC=13,1;MLEAF=0.325,0.025;MQ=49.17;MQRankSum=-1.904e+00;QD=0.32;ReadPosRankSum=0.453;SOR=0.643	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:29,4,0:33:99:.:.:109,0,1171,197,1206,1403	6	0	13	1
chr15	20534668	20534670	CTT	0	exonic	GOLGA6L6	.	.	.	.	.	594	661	33	1	233	268	0.0257922	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.35	240.54	67	chr15	20534668	.	CTT	*,C	240.54	.	AC=13,1;AF=0.325,0.025;AN=40;BaseQRankSum=1.75;DP=1651;ExcessHet=14.4320;FS=0.595;InbreedingCoeff=-0.5273;MLEAC=13,1;MLEAF=0.325,0.025;MQ=49.12;MQRankSum=-1.948e+00;QD=0.28;ReadPosRankSum=1.06;SOR=0.646	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:29,4,0:33:99:.:.:109,0,1171,197,1206,1403	6	0	13	1
chr15	20534672	20534672	T	0	exonic	GOLGA6L6	.	.	.	.	.	554	704	31	1	232	265	0.0229008	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3684	204.03	67	chr15	20534672	.	T	*,C	204.03	.	AC=13,1;AF=0.342,0.026;AN=38;BaseQRankSum=1.01;DP=1514;ExcessHet=15.6281;FS=0.000;InbreedingCoeff=-0.5167;MLEAC=14,1;MLEAF=0.368,0.026;MQ=49.17;MQRankSum=-1.240e+00;QD=0.24;ReadPosRankSum=0.861;SOR=0.666	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:29,4,0:33:99:.:.:109,0,1171,197,1206,1403	5	0	13	2
chr15	20534676	20534676	C	0	exonic	GOLGA6L6	.	.	.	.	.	520	770	224	4	4	236	0.130926	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3421	169.85	67	chr15	20534676	.	C	T,*	169.85	.	AC=1,12;AF=0.026,0.316;AN=38;BaseQRankSum=2.03;DP=1485;ExcessHet=12.7758;FS=0.000;InbreedingCoeff=-0.4784;MLEAC=1,13;MLEAF=0.026,0.342;MQ=51.07;MQRankSum=-7.020e-01;QD=0.22;ReadPosRankSum=-2.744e+00;SOR=0.741	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:29,0,4:33:99:.:.:109,197,1403,0,1206,1171	6	0	1	2
chr15	20534684	20534684	G	0	exonic	GOLGA6L6	.	.	.	.	.	520	750	24	2	226	254	0.0183246	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3421	199.87	67	chr15	20534684	.	G	*,A	199.87	.	AC=11,2;AF=0.289,0.053;AN=38;BaseQRankSum=-1.982e+00;DP=1452;ExcessHet=13.8672;FS=0.600;InbreedingCoeff=-0.4791;MLEAC=12,2;MLEAF=0.316,0.053;MQ=47.03;MQRankSum=0.825;QD=0.25;ReadPosRankSum=0.678;SOR=0.780	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:29,4,0:33:99:.:.:109,0,1171,197,1206,1403	6	0	11	2
chr15	20534693	20534693	T	C	exonic	GOLGA6L6	.	nonsynonymous SNV	GOLGA6L6:NM_001145004:exon8:c.A1741G:p.M581V,	.	.	525	772	218	4	3	229	0.127684	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4	T	0.041	B	0.015	B	.	.	1.000	N	0.805	L	3.33	T	-0.935	T	0.009	T	0.033	-1.793	0.010	.	-1.777	-3.985	.	0.008	0.0074203089576	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1310726190	0.0007	0.0036	0.0006	0.0008	0.0040	0.0006	0.0006	0.0029	0.0025	0.0012	0.0015	0.0011	0.0040	0.0015	0.0012	0.0005	0.0008	0.0016	0.0010	0.0023	0.0011	0.0010	0.0015	0.0009	0.0008	0.0012	0.0011	0.0005	0	0.0011	0	0.0007	0.0010	0.0046	0.0015	0.0013	0	.	.	.	0.419	0.14158	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.242	0.27316	-0.9348	0.43424	T	0.009	0.03403	T	7	0.029617101	0.01088	T	0.00742	0.19685	T	.	.	.	.	0.0138822411134	0.00435	0.004044001980495092	0.00379	.	.	0.559128940105	0.47145	T	0.012766	0.11161	T	-0.359971	0.04131	T	-0.75485	0.03301	T	0.0197057358900899	0.00672	T	0.435556	0.11926	T	0.18490703	0.39828	0.36883113	0.62165	0.18490703	0.39828	0.36883113	0.62165	-6.123	0.47297	T	.	.	0.138	0.30130	B	.	.	0.552275	0.09206	5.991	0.22101327030199044	0.00873	0.00122	0.00764	N	AEFI	0.026473	0.01994	N	-1.86920376427058	0.00397	0.01706604	-1.98812300616187	0.00324	0.01432719	1.00268384750379E-5	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	.	.	.	0.142000	0.15917	-1.292000	0.05797	0.321000	0.19380	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	.	.	.	1000	0.00083	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.3158	130.94	67	chr15	20534693	.	T	C,*	130.94	.	AC=1,11;AF=0.026,0.289;AN=38;BaseQRankSum=0.077;DP=1398;ExcessHet=10.3454;FS=0.000;InbreedingCoeff=-0.4428;MLEAC=1,12;MLEAF=0.026,0.316;MQ=47.60;MQRankSum=1.05;QD=0.17;ReadPosRankSum=-2.776e+00;SOR=0.713	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:29,0,4:33:99:.:.:109,197,1403,0,1206,1171	7	0	1	2
chr15	20534693	20534693	T	0	exonic	GOLGA6L6	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3158	130.94	67	chr15	20534693	.	T	C,*	130.94	.	AC=1,11;AF=0.026,0.289;AN=38;BaseQRankSum=0.077;DP=1398;ExcessHet=10.3454;FS=0.000;InbreedingCoeff=-0.4428;MLEAC=1,12;MLEAF=0.026,0.316;MQ=47.60;MQRankSum=1.05;QD=0.17;ReadPosRankSum=-2.776e+00;SOR=0.713	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:29,0,4:33:99:.:.:109,197,1403,0,1206,1171	7	0	1	2
chr15	20534697	20534697	C	0	exonic	GOLGA6L6	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3158	53.17	67	chr15	20534697	.	C	T,*	53.17	.	AC=1,11;AF=0.026,0.289;AN=38;BaseQRankSum=1.89;DP=1389;ExcessHet=10.3454;FS=0.000;InbreedingCoeff=-0.4609;MLEAC=1,12;MLEAF=0.026,0.316;MQ=46.42;MQRankSum=0.821;QD=0.07;ReadPosRankSum=-2.438e+00;SOR=0.750	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:29,0,4:33:99:.:.:109,197,1403,0,1206,1171	7	0	1	2
chr15	20534699	20534705	CCTCCTG	0	exonic	GOLGA6L6	.	.	.	.	.	504	770	47	2	199	250	0.0320553	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3684	1634.86	67	chr15	20534699	.	CCTCCTG	*,C	1634.86	.	AC=10,4;AF=0.263,0.105;AN=38;BaseQRankSum=-1.160e+00;DP=1326;ExcessHet=15.6281;FS=0.000;InbreedingCoeff=-0.5547;MLEAC=11,4;MLEAF=0.289,0.105;MQ=42.46;MQRankSum=-1.014e+00;QD=2.12;ReadPosRankSum=0.176;SOR=0.747	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:29,4,0:33:99:.:.:109,0,1171,197,1206,1403	5	0	10	2
chr15	21652117	21652117	A	C	exonic	OR4N4C	.	nonsynonymous SNV	OR4N4C:NM_001365389:exon2:c.A234C:p.L78F,	.	.	465	768	265	24	0	313	0.169281	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.738e-06	0.0002	4.777e-06	8.48e-06	8.749e-05	1.79e-06	5e-07	.	.	8.749e-05	0	7.657e-05	0	0	0	3.89e-06	0	0	8.705e-06	0.0001	0	1.8e-05	3.488e-05	0	0	.	.	3.488e-05	0	0	0	0	0	0	0	0	0	.	.	.	1.0	0.01155	T	.	.	.	.	.	.	0.000108	0.50451	N	0.000000	0.99988	0.19925	P	.	.	.	.	.	.	.	.	.	0.182	0.19728	-1.0434	0.16294	T	0.000	0.00011	T	9	0.0018065572	0.00024	T	.	.	.	.	.	0.381	0.39807	.	.	0.040043207446890695	0.03950	.	.	0.311506986618	0.12134	T	.	.	.	-0.674746	0.00051	T	-0.598182	0.12964	T	0.00326191471079691	0.00034	T	0.287271	0.05164	T	.	.	.	.	.	.	.	.	-0.124	0.00396	T	.	.	0.073	0.04599	B	.;.	.;.	0.850845	0.12232	8.774	0.66924304402247636	0.08201	0.00687	0.02939	N	AEI	.	.	.	-1.62473285776486	0.01146	0.04979641	-1.44264627457213	0.02837	0.1312614	5.3174549639366E-4	0.07248	0.525926	0.21836	0	0.615948	0.52940	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	3.24	2.28	0.27583	-1.083000	0.03507	-0.079000	0.12201	-0.781000	0.03322	0.002000	0.15269	0.160000	0.23254	0.175000	0.21139	0.3717:0.6283:0.0:0.0	9.685	0.39261	.	.	GPCR, rhodopsin-like, 7TM;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1429	7981.03	35	chr15	21652117	.	A	C	7981.03	.	AC=6;AF=0.143;AN=42;BaseQRankSum=1.67;DP=1245;ExcessHet=1.7912;FS=1.131;InbreedingCoeff=-0.1667;MLEAC=6;MLEAF=0.143;MQ=28.20;MQRankSum=-5.080e-01;QD=11.27;ReadPosRankSum=0.254;SOR=0.597	GT:AD:DP:GQ:PL	0/1:54,81:135:99:1855,0,1264	15	0	6	0
chr15	21652190	21652190	C	T	exonic	OR4N4C	.	nonsynonymous SNV	OR4N4C:NM_001365389:exon2:c.C307T:p.L103F,	.	.	442	748	311	21	0	353	0.190914	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	7.129e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	1.389e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	0.283	0.21478	T	.	.	.	.	.	.	0.261126	0.15312	N	0.485335	0.999366	0.21303	P	.	.	.	.	.	.	.	.	.	0.103	0.08646	-0.9711	0.36967	T	0.000	0.00011	T	9	0.0015220642	0.00017	T	.	.	.	.	.	.	.	.	.	0.030007910357616414	0.02949	.	.	0.290178626776	0.08949	T	.	.	.	-0.66378	0.00060	T	-0.582431	0.14328	T	0.000522953042824942	0.00004	T	0.540346	0.18307	T	.	.	.	.	.	.	.	.	-5.352	0.40455	T	.	.	0.093	0.14062	B	.;.	.;.	1.025571	0.14055	10.62	0.93500601886041435	0.23307	0.07624	0.13632	N	AEFCI	.	.	.	-0.844437362999696	0.12186	0.5925257	-0.887036193530605	0.12400	0.6376486	3.35547801273524E-4	0.06583	0.525926	0.21836	0	0.615948	0.52940	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	3.2	0.085	0.13749	-0.579000	0.05927	-1.581000	0.05125	0.268000	0.18485	0.000000	0.06391	0.000000	0.08366	0.409000	0.26983	0.0:0.3722:0.2141:0.4137	3.269	0.06470	.	.	GPCR, rhodopsin-like, 7TM;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1429	13026.03	35	chr15	21652190	.	C	T	13026.03	.	AC=6;AF=0.143;AN=42;BaseQRankSum=4.04;DP=1982;ExcessHet=1.7912;FS=3.181;InbreedingCoeff=-0.1667;MLEAC=6;MLEAF=0.143;MQ=32.24;MQRankSum=-2.000e-03;QD=11.47;ReadPosRankSum=0.342;SOR=0.777	GT:AD:DP:GQ:PL	0/1:79,114:193:99:2892,0,1791	15	0	6	0
chr15	21652283	21652283	G	C	exonic	OR4N4C	.	nonsynonymous SNV	OR4N4C:NM_001365389:exon2:c.G400C:p.V134L,	.	.	444	742	317	19	0	355	0.19304	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1277263862	0.0001	0.0001	8.806e-05	0.0001	0.0006	8.456e-05	7.79e-05	0.0003	0.0002	0.0006	0.0002	0	0	0	0	9.504e-05	0.0002	9.725e-05	0.0003	0.0003	0.0003	0.0003	0.0008	0.0002	0.0002	0.0005	0.0004	0.0008	0	0.0003	0	0	0	0	6.04e-05	0.0020	0	.	.	.	0.136	0.34009	T	.	.	.	.	.	.	0.000469	0.44119	D	0.000000	1	0.08975	P	.	.	.	.	.	.	.	.	.	0.218	0.24385	-0.8916	0.48793	T	0.000	0.00011	T	9	0.001629144	0.00019	T	.	.	.	.	.	0.312	0.28612	.	.	0.07580462846120836	0.07516	.	.	0.250244468451	0.03793	T	.	.	.	-0.532543	0.00371	T	-0.393918	0.34092	T	0.031530545555236	0.02231	T	0.857714	0.54741	D	.	.	.	.	.	.	.	.	-5.754	0.44172	T	.	.	0.162	0.35767	B	.;.	.;.	2.487917	0.32091	18.94	0.99194466592430841	0.55083	0.14978	0.18683	N	AEFHCI	.	.	.	-0.187369143140256	0.33660	1.91217	-0.318033235840288	0.27516	1.527408	0.00464552456930878	0.10654	0.525926	0.21836	0	0.615948	0.52940	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	3.2	2.26	0.27418	2.575000	0.45689	1.571000	0.27417	0.299000	0.18918	0.133000	0.23395	0.004000	0.18990	0.984000	0.60418	0.2721:0.0:0.7279:0.0	5.367	0.15423	.	.	GPCR, rhodopsin-like, 7TM;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1429	18653.03	35	chr15	21652283	.	G	C	18653.03	.	AC=6;AF=0.143;AN=42;BaseQRankSum=0.441;DP=1829;ExcessHet=1.7912;FS=3.282;InbreedingCoeff=-0.1667;MLEAC=6;MLEAF=0.143;MQ=32.90;MQRankSum=-5.490e-01;QD=18.62;ReadPosRankSum=0.182;SOR=0.487	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:67,101:168:99:0|1:21652283_G_C:3961,0,2434:21652283	15	0	6	0
chr15	21652290	21652290	C	A	exonic	OR4N4C	.	nonsynonymous SNV	OR4N4C:NM_001365389:exon2:c.C407A:p.A136D,	.	.	445	758	303	16	0	335	0.180983	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1325108497	7.359e-05	0.0001	5.407e-05	9.171e-05	0.0002	5.914e-05	5.388e-05	9.719e-05	7.073e-05	4.42e-05	0.0002	0	0	0	0	7.582e-05	0.0001	6.801e-05	8.658e-05	0.0002	7.449e-05	9.95e-05	0.0003	4.464e-05	3.34e-05	7.618e-05	4.051e-05	7.641e-05	0	0.0003	0	0	0	0	2.089e-05	0.0021	0	.	.	.	0.0	0.92824	D	.	.	.	.	.	.	0.000167	0.48594	D	0.000000	0.0199557	0.39625	P	.	.	.	.	.	.	.	.	.	0.631	0.64478	-0.9692	0.37366	T	0.000	0.00114	T	9	0.002110511	0.00030	T	.	.	.	.	.	.	.	.	.	0.4398908667552438	0.43906	.	.	0.395352125168	0.24421	T	.	.	.	-0.179371	0.23830	T	0.113389	0.77796	D	0.0805372903841944	0.10055	T	0.976052	0.91638	D	.	.	.	.	.	.	.	.	-13.572	0.91582	D	.	.	0.411	0.60193	A	.;.	.;.	4.705929	0.75548	26.4	0.99729135027837246	0.82619	0.93345	0.57969	D	AEFHCI	.	.	.	0.668177313905204	0.77549	6.696248	0.481736136598001	0.66782	4.996887	0.99991764154766	0.45857	0.525926	0.21836	0	0.615948	0.52940	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	3.2	3.2	0.35826	4.696000	0.61460	5.281000	0.48180	0.268000	0.18485	1.000000	0.71638	1.000000	0.68203	0.976000	0.56436	0.0:1.0:0.0:0.0	12.276	0.54051	.	.	GPCR, rhodopsin-like, 7TM;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1429	18491.03	35	chr15	21652290	.	C	A	18491.03	.	AC=6;AF=0.143;AN=42;BaseQRankSum=-6.300e-01;DP=1815;ExcessHet=1.7912;FS=3.262;InbreedingCoeff=-0.1667;MLEAC=6;MLEAF=0.143;MQ=32.87;MQRankSum=-4.920e-01;QD=18.57;ReadPosRankSum=0.519;SOR=0.502	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:68,102:170:99:0|1:21652283_G_C:3973,0,2459:21652283	15	0	6	0
chr15	22081297	22081297	T	C	exonic	OR4M2	.	nonsynonymous SNV	OR4M2:NM_001004719:exon1:c.T673C:p.F225L,	.	.	540	106	147	729	0	1605	0.883324	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.0	B	0.0	B	0.001	N	1.000	P	-3.045	N	8.91	T	-0.972	T	0.000	T	0.111	-2.796	0	0.487	-0.314	-1.168	6.210	0.105	.	.	.	0.9050	0.7710	0.9468	0.9535	0.9317	0.9220	0.9117	0.8549	0.780262	120630	154602	rs491208	0	5.101e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.000844	0.41440	N	0.000000	1	0.08975	P	-2.445	0.00066	N	.	.	.	.	.	.	0.024	0.00445	-0.9717	0.36841	T	0.000	0.00011	T	9	7.2730036e-05	0.00009	T	.	.	.	.	.	0.54	0.65161	.	.	0.19599440268041618	0.19516	.	.	.	.	.	0.00272	0.02115	T	-0.672873	0.00053	T	-0.702807	0.05673	T	0.00771905005910873	0.00090	T	0.142386	0.01156	T	0.07985808	0.18268	0.08259106	0.18862	0.07985808	0.18267	0.08259106	0.18861	0.242	0.00274	T	.	.	0.245	0.47901	B	.	.	1.048175	0.14294	10.87	0.73235698812529659	0.10255	0.01725	0.05460	N	AEFGBCI	.	.	.	-1.86751014071891	0.00400	0.01720119	-1.75517952119794	0.00914	0.04088312	0.944484955208236	0.27617	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	2.5	0.487	0.16050	-0.893000	0.04234	-0.516000	0.08717	-0.757000	0.03535	0.000000	0.06391	0.000000	0.08366	0.008000	0.08271	0.0:0.4472:0.0:0.5528	6.210	0.19834	.	.	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0.875	49876.32	41	chr15	22081297	.	T	C	49876.32	.	AC=35;AF=0.875;AN=40;BaseQRankSum=9.54;DP=2745;ExcessHet=0.0454;FS=83.218;InbreedingCoeff=0.3143;MLEAC=36;MLEAF=0.900;MQ=39.56;MQRankSum=-1.124e+01;QD=20.13;ReadPosRankSum=0.928;SOR=4.411	GT:AD:DP:GQ:PL	1/1:0,96:96:99:3059,289,0	1	16	3	1
chr15	22607800	22607800	C	G	exonic	GOLGA8J	.	nonsynonymous SNV	GOLGA8J:NM_001282472:exon18:c.G1723C:p.D575H,	.	.	422	1046	50	4	0	58	0.0269767	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1440398018	0.0008	0.0030	0.0006	0.0010	0.0050	0.0007	0.0007	0.0046	0.0044	0.0001	0.0012	0.0003	0.0005	0.0007	0.0003	0.0005	0.0006	0.0050	0.0021	0.0058	0.0020	0.0022	0.0033	0.0019	0.0018	0.0026	0.0023	0.0014	0	0.0033	0.0018	0.0031	0.0024	0	0.0023	0.0027	0.0011	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025	57.54	15	chr15	22607800	.	C	G	57.54	.	AC=1;AF=0.025;AN=40;BaseQRankSum=-2.260e+00;DP=297;ExcessHet=0.0000;FS=13.222;InbreedingCoeff=-0.0460;MLEAC=1;MLEAF=0.025;MQ=23.66;MQRankSum=-1.981e+00;QD=5.75;ReadPosRankSum=0.00;SOR=3.223	GT:AD:DP:GQ:PL	0/1:6,4:10:71:71,0,147	19	0	1	1
chr15	22768275	22768275	C	0	exonic	GOLGA6L7	.	.	.	.	.	1270	216	4	27	5	63	0.118367	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5455	544.05	2	chr15	22768275	.	C	G,*	544.05	.	AC=8,4;AF=0.364,0.182;AN=22;BaseQRankSum=1.14;DP=74;ExcessHet=0.1935;FS=1.619;InbreedingCoeff=0.2348;MLEAC=12,6;MLEAF=0.545,0.273;MQ=53.08;MQRankSum=-9.670e-01;QD=15.11;ReadPosRankSum=-9.900e-02;SOR=0.465	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,4,0:4:12:.:.:159,12,0,159,12,159	3	3	2	10
chr15	23361381	23361381	G	0	exonic	GOLGA8H;GOLGA8S	.	.	.	.	.	434	682	98	9	299	415	0.0783784	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2619	3501.0	88	chr15	23361381	.	G	A,*	3501.0	.	AC=3,8;AF=0.071,0.190;AN=42;BaseQRankSum=-1.903e+00;DP=1729;ExcessHet=7.7275;FS=0.553;InbreedingCoeff=-0.3548;MLEAC=3,8;MLEAF=0.071,0.190;MQ=58.26;MQRankSum=0.843;QD=2.89;ReadPosRankSum=1.65;SOR=0.631	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:64,0,25:89:99:.:.:819,1012,3602,0,2590,2514	10	0	3	0
chr15	23361385	23361385	C	0	exonic	GOLGA8H;GOLGA8S	.	.	.	.	.	439	690	139	1	253	394	0.0927022	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2381	3879.31	36	chr15	23361385	.	C	*,G	3879.31	.	AC=7,4;AF=0.167,0.095;AN=42;BaseQRankSum=-6.440e-01;DP=1602;ExcessHet=2.2868;FS=1.792;InbreedingCoeff=-0.1085;MLEAC=7,4;MLEAF=0.167,0.095;MQ=56.41;MQRankSum=-1.962e+00;QD=3.42;ReadPosRankSum=2.34;SOR=0.546	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:64,25,0:89:99:.:.:819,0,2514,1012,2590,3602	11	0	6	0
chr15	23440492	23440492	C	0	exonic	GOLGA6L2	.	.	.	.	.	628	57	798	30	9	867	0.882716	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	47381.92	167	chr15	23440492	.	C	*,T	47381.92	.	AC=19,19;AF=0.452,0.452;AN=42;BaseQRankSum=1.77;DP=3542;ExcessHet=0.6776;FS=0.000;InbreedingCoeff=-0.1053;MLEAC=19,19;MLEAF=0.452,0.452;MQ=58.25;MQRankSum=-4.110e-01;QD=13.88;ReadPosRankSum=0.477;SOR=0.675	GT:AD:DP:GQ:PGT:PID:PL:PS	1/2:0,108,75:183:99:.:.:6823,2446,2967,4472,0,4241	0	0	2	0
chr15	28351041	28351145	TCCTCCTGCTCCTGCCTCTTTTCCTCCTGCTCCCGTATCTTCTCCTCCTGCCTCCACACCTTCTCCTCCTGCTCCCGTATCTTCTCCTCCTGCCTCCACATCTTA	-	exonic	LOC100132202	.	nonframeshift deletion	LOC100132202:NM_001365373:exon9:c.1593_1697del:p.D531_E565del,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.84e-06	1.327e-05	1.027e-05	9.443e-06	6.915e-05	3.54e-06	2.32e-06	2.06e-06	5.7e-07	6.915e-05	0	0	0	0	0	7.746e-06	3.313e-05	1.898e-05	5.579e-05	7.624e-05	5.485e-05	5.677e-05	0.0001	1.902e-05	1.077e-05	2.381e-05	1.26e-05	0	0	0.0001	0	0	0	0	8.984e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03125	45.12	14	chr15	28351040	.	CTCCTCCTGCTCCTGCCTCTTTTCCTCCTGCTCCCGTATCTTCTCCTCCTGCCTCCACACCTTCTCCTCCTGCTCCCGTATCTTCTCCTCCTGCCTCCACATCTTA	C	45.12	.	AC=1;AF=0.031;AN=32;BaseQRankSum=-4.730e-01;DP=242;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0410;MLEAC=1;MLEAF=0.031;MQ=39.08;MQRankSum=0.00;QD=3.47;ReadPosRankSum=-7.180e-01;SOR=0.765	GT:AD:DP:GQ:PL	0/1:10,3:13:57:57,0,372	15	0	1	5
chr15	28843134	28843134	C	T	exonic	GOLGA6L7	.	nonsynonymous SNV	GOLGA6L7:NM_001365371:exon9:c.G970A:p.E324K,	.	.	524	965	30	3	0	36	0.0183113	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001921	5	26028	rs1204083828	0.0003	0.0018	0.0002	0.0003	0.0013	0.0002	0.0002	0.0009	0.0008	0.0003	0.0010	0.0004	0.0013	0.0001	0.0003	0.0002	0.0004	0.0009	0.0009	0.0085	0.0007	0.0011	0.0017	0.0008	0.0007	0.0013	0.0012	0.0017	0	0.0012	0.0006	0.0011	0.0009	0	0.0005	0.0010	0.0007	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.054320782	0.05765	T	.	.	.	.	.	.	.	.	.	0.0796059710434255	0.07895	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.552145	0.19060	T	0.026396565	0.01691	0.06522381	0.13188	0.026396565	0.01691	0.06522381	0.13188	-7.191	0.55416	T	.	.	0.093	0.13969	B	.	.	0.927256	0.13022	9.528	0.40818859624842702	0.02905	0.00385	0.01942	N	AEFCI	.	.	.	.	.	.	.	.	.	2.69831305298825E-6	0.01202	0.078448	0.01964	0	0.063388	0.01293	0	0.083675	0.02720	0	0.062806	0.01542	0	0.0448725	0.03863	0.432	-0.864	0.10126	-2.618000	0.00953	-2.469000	0.03716	-0.534000	0.04951	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	1.0E-4:0.3485:0.6514:0.0	5.585	0.16554	946	0.12043	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	150.57	2	chr15	28843134	.	C	T	150.57	.	AC=2;AF=0.050;AN=40;BaseQRankSum=-3.190e-01;DP=198;ExcessHet=0.1072;FS=0.000;InbreedingCoeff=-0.0832;MLEAC=2;MLEAF=0.050;MQ=53.75;MQRankSum=0.180;QD=8.37;ReadPosRankSum=0.431;SOR=0.934	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:7,3:10:99:1|0:28843098_CCCCCATCTGCTCCTCCTGCTT_C:105,0,285:28843098	18	0	2	1
chr15	28843135	28843135	C	A	exonic	GOLGA6L7	.	nonsynonymous SNV	GOLGA6L7:NM_001365371:exon9:c.G969T:p.Q323H,	.	.	518	971	30	3	0	36	0.0182002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.68e-05	2	26028	rs1233704262	0.0003	0.0018	0.0002	0.0004	0.0013	0.0003	0.0002	0.0009	0.0008	0.0004	0.0010	0.0005	0.0013	0.0002	0.0003	0.0002	0.0005	0.0008	0.0008	0.0084	0.0006	0.0010	0.0014	0.0007	0.0006	0.0011	0.0010	0.0014	0	0.0011	0.0003	0.0010	0.0009	0	0.0004	0.0005	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09346208	0.16541	T	.	.	.	.	.	.	.	.	.	0.04198620401242224	0.04143	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.467153	0.13745	T	0.03609981	0.04375	0.057831366	0.10583	0.03609981	0.04374	0.057831366	0.10582	-9.024	0.67852	D	.	.	0.328	0.55089	B	.	.	1.202482	0.15947	12.21	0.53190382402369574	0.04891	0.05610	0.11516	N	AEFCI	.	.	.	.	.	.	.	.	.	1.60012443190448E-5	0.02871	0.078448	0.01964	0	0.063388	0.01293	0	0.083675	0.02720	0	0.062806	0.01542	0	0.0448725	0.03863	0.432	0.432	0.15742	0.047000	0.13941	0.456000	0.18569	0.356000	0.20028	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.9998:0.0:2.0E-4	6.751	0.22677	946	0.12043	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	150.53	2	chr15	28843135	.	C	A	150.53	.	AC=2;AF=0.050;AN=40;BaseQRankSum=-6.190e-01;DP=197;ExcessHet=0.1072;FS=0.000;InbreedingCoeff=-0.0817;MLEAC=2;MLEAF=0.050;MQ=53.75;MQRankSum=0.180;QD=8.36;ReadPosRankSum=0.431;SOR=0.934	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:7,3:10:99:1|0:28843098_CCCCCATCTGCTCCTCCTGCTT_C:105,0,285:28843098	18	0	2	1
chr15	28843142	28843142	C	A	exonic	GOLGA6L7	.	nonsynonymous SNV	GOLGA6L7:NM_001365371:exon9:c.G962T:p.R321L,	.	.	544	955	21	2	0	25	0.0129199	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1191857706	0.0001	0.0011	0.0001	0.0001	0.0010	9.584e-05	8.968e-05	0.0004	0.0003	0.0005	0.0005	0.0004	0.0005	7.934e-05	0.0010	6.784e-05	9.229e-05	0.0006	0.0007	0.0077	0.0006	0.0008	0.0012	0.0006	0.0005	0.0008	0.0007	0.0011	0	0.0012	0.0003	0.0006	0.0009	0	0.0004	0.0005	0.0005	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.076286405	0.11898	T	.	.	.	.	.	.	.	.	.	0.030957340557654735	0.03044	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.668433	0.27736	T	0.075750865	0.17086	0.09239469	0.21771	0.075750865	0.17086	0.09239469	0.21771	-8.631	0.65293	D	.	.	0.105	0.19276	B	.	.	0.254151	0.06330	2.792	0.30357631313706235	0.01656	0.00529	0.02453	N	AEFCI	.	.	.	.	.	.	.	.	.	2.82397054557777E-6	0.01202	0.078448	0.01964	0	0.063388	0.01293	0	0.083675	0.02720	0	0.062806	0.01542	0	0.0448725	0.03863	0.432	-0.864	0.10126	-0.905000	0.04184	-6.198000	0.01467	-0.833000	0.02857	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.3272:0.3435:0.3293:0.0	2.202	0.03687	946	0.12043	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	144.72	1	chr15	28843142	.	C	A	144.72	.	AC=2;AF=0.050;AN=40;BaseQRankSum=-8.120e-01;DP=202;ExcessHet=0.1072;FS=2.098;InbreedingCoeff=-0.0852;MLEAC=2;MLEAF=0.050;MQ=52.94;MQRankSum=0.431;QD=7.24;ReadPosRankSum=0.282;SOR=0.819	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:8,3:11:99:1|0:28843098_CCCCCATCTGCTCCTCCTGCTT_C:102,0,327:28843098	18	0	2	1
chr15	28843145	28843145	A	G	exonic	GOLGA6L7	.	nonsynonymous SNV	GOLGA6L7:NM_001365371:exon9:c.T959C:p.M320T,	.	.	552	948	20	2	0	24	0.0125	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1394968721	9.032e-05	0.0009	8.61e-05	9.487e-05	0.0005	7.569e-05	6.959e-05	0.0003	0.0003	0.0002	0.0004	0.0003	0.0004	3.904e-05	0.0003	5.774e-05	6.833e-05	0.0005	0.0006	0.0071	0.0004	0.0007	0.0009	0.0005	0.0004	0.0006	0.0005	0.0009	0	0.0009	0.0003	0.0006	0.0006	0	0.0003	0.0005	0.0007	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06346178	0.08270	T	.	.	.	.	.	.	.	.	.	0.027028037523204537	0.02652	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.80032	0.44603	T	0.06259258	0.13090	0.20706734	0.44950	0.06259258	0.13089	0.20706734	0.44949	-8.92	0.67181	D	.	.	0.373	0.57993	A	.	.	1.332190	0.17377	13.13	0.13608050232526028	0.00274	0.00806	0.03275	N	AEFCI	.	.	.	.	.	.	.	.	.	2.99479300498238E-6	0.01202	0.078448	0.01964	0	0.063388	0.01293	0	0.083675	0.02720	0	0.062806	0.01542	0	0.0448725	0.03863	0.432	-0.864	0.10126	-3.140000	0.00647	-2.879000	0.03269	-0.682000	0.04210	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.3434:0.327:0.0:0.3296	1.454	0.02237	946	0.12043	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	141.86	1	chr15	28843145	.	A	G	141.86	.	AC=2;AF=0.050;AN=40;BaseQRankSum=-8.120e-01;DP=212;ExcessHet=0.1072;FS=2.141;InbreedingCoeff=-0.0894;MLEAC=2;MLEAF=0.050;MQ=53.30;MQRankSum=0.431;QD=6.76;ReadPosRankSum=-3.500e-02;SOR=0.781	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:9,3:12:99:1|0:28843098_CCCCCATCTGCTCCTCCTGCTT_C:99,0,369:28843098	18	0	2	1
chr15	28843152	28843152	C	T	exonic	GOLGA6L7	.	nonsynonymous SNV	GOLGA6L7:NM_001365371:exon9:c.G952A:p.E318K,	.	.	596	905	19	2	0	23	0.0125477	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1175861085	8.072e-05	0.0008	7.323e-05	8.88e-05	0.0005	6.676e-05	6.15e-05	0.0003	0.0002	0.0005	0.0004	0.0002	0.0005	3.946e-05	0	4.87e-05	2.315e-05	0.0004	0.0005	0.0063	0.0004	0.0005	0.0008	0.0004	0.0004	0.0005	0.0005	0.0008	0	0.0008	0	0.0004	0.0006	0	0.0003	0.0005	0.0007	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.084602505	0.14197	T	.	.	.	.	.	.	.	.	.	0.03870546161705601	0.03816	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.807219	0.45710	T	0.022809826	0.00971	0.063979626	0.12754	0.022809826	0.00970	0.063979626	0.12754	-7.409	0.56968	T	.	.	0.076	0.05756	B	.	.	0.240593	0.06208	2.659	0.69185045974801285	0.08892	0.00371	0.01888	N	AEFCI	.	.	.	.	.	.	.	.	.	1.10080633485978E-4	0.05123	0.078448	0.01964	0	0.063388	0.01293	0	0.083675	0.02720	0	0.062806	0.01542	0	0.0448725	0.03863	0.432	-0.864	0.10126	-0.998000	0.03812	-7.625000	0.01118	-2.765000	0.00194	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.2626:0.7373:0.0	7.994	0.29417	946	0.12043	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	138.57	3	chr15	28843152	.	C	T	138.57	.	AC=2;AF=0.050;AN=40;BaseQRankSum=-6.420e-01;DP=218;ExcessHet=0.1072;FS=2.154;InbreedingCoeff=-0.0831;MLEAC=2;MLEAF=0.050;MQ=52.95;MQRankSum=0.431;QD=6.30;ReadPosRankSum=-2.820e-01;SOR=0.750	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:10,3:13:96:1|0:28843098_CCCCCATCTGCTCCTCCTGCTT_C:96,0,411:28843098	18	0	2	1
chr15	28843155	28843155	C	T	exonic	GOLGA6L7	.	nonsynonymous SNV	GOLGA6L7:NM_001365371:exon9:c.G949A:p.E317K,	.	.	579	922	19	2	0	23	0.0123192	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1394768048	6.115e-05	0.0006	5.529e-05	6.746e-05	0.0004	4.9e-05	4.459e-05	0.0002	0.0002	0.0002	0.0003	0.0001	0.0004	3.914e-05	0	3.656e-05	2.32e-05	0.0004	0.0004	0.0056	0.0004	0.0004	0.0007	0.0003	0.0003	0.0004	0.0004	0.0006	0	0.0007	0	0.0004	0.0005	0	0.0002	0.0005	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0684565	0.09684	T	.	.	.	.	.	.	.	.	.	0.08560220995357702	0.08494	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.810419	0.46176	T	0.02553128	0.01501	0.06522381	0.13188	0.02553128	0.01501	0.06522381	0.13188	-6.82	0.52708	T	.	.	0.104	0.18910	B	.	.	1.353607	0.17613	13.27	0.35185701157618721	0.02194	0.00170	0.01006	N	AEFCI	.	.	.	.	.	.	.	.	.	2.25599673312757E-6	0.01202	0.078448	0.01964	0	0.063388	0.01293	0	0.083675	0.02720	0	0.062806	0.01542	0	0.0448725	0.03863	0.432	-0.864	0.10126	-3.903000	0.00381	-5.980000	0.01533	-0.534000	0.04951	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.0:0.6504:0.3496:1.0E-4	5.503	0.16129	946	0.12043	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	138.03	4	chr15	28843155	.	C	T	138.03	.	AC=2;AF=0.050;AN=40;BaseQRankSum=-5.420e-01;DP=222;ExcessHet=0.1072;FS=2.154;InbreedingCoeff=-0.0705;MLEAC=2;MLEAF=0.050;MQ=52.95;MQRankSum=0.431;QD=6.27;ReadPosRankSum=-5.080e-01;SOR=0.750	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:10,3:13:96:1|0:28843098_CCCCCATCTGCTCCTCCTGCTT_C:96,0,411:28843098	18	0	2	1
chr15	28843163	28843163	C	A	exonic	GOLGA6L7	.	nonsynonymous SNV	GOLGA6L7:NM_001365371:exon9:c.G941T:p.R314L,	.	.	591	916	13	2	0	17	0.00919416	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1327731859	3.966e-05	0.0004	3.146e-05	4.845e-05	0.0002	2.969e-05	2.606e-05	0.0001	7.171e-05	0	0.0002	0	0.0002	3.955e-05	0	2.931e-05	0	0.0002	0.0004	0.0038	0.0003	0.0004	0.0006	0.0003	0.0002	0.0004	0.0004	0.0006	0	0.0004	0	0	0.0005	0	0.0002	0.0005	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.10313755	0.18943	T	.	.	.	.	.	.	.	.	.	0.02523710072021684	0.02474	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.585041	0.21304	T	0.082116276	0.18901	0.11121759	0.26827	0.082116276	0.18901	0.11121759	0.26826	-7.835	0.59940	D	.	.	0.121	0.25265	B	.	.	0.795957	0.11666	8.248	0.52257582194253571	0.04714	0.01916	0.05858	N	AEFCI	.	.	.	.	.	.	.	.	.	1.98083583576756E-6	0.01202	0.078448	0.01964	0	0.063388	0.01293	0	0.083675	0.02720	0	0.062806	0.01542	0	0.0448725	0.03863	0.432	0.432	0.15742	-0.605000	0.05757	-6.332000	0.01428	-0.534000	0.04951	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.9998:0.0:2.0E-4	6.751	0.22677	946	0.12043	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	137.98	5	chr15	28843163	.	C	A	137.98	.	AC=2;AF=0.050;AN=40;BaseQRankSum=-9.000e-02;DP=233;ExcessHet=0.1072;FS=2.154;InbreedingCoeff=-0.0691;MLEAC=2;MLEAF=0.050;MQ=52.95;MQRankSum=0.431;QD=6.27;ReadPosRankSum=-1.085e+00;SOR=0.750	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:10,3:13:96:1|0:28843098_CCCCCATCTGCTCCTCCTGCTT_C:96,0,411:28843098	18	0	2	1
chr15	31050561	31050561	G	T	exonic	TRPM1	.	nonsynonymous SNV	TRPM1:NM_001252020:exon11:c.C1336A:p.P446T	Night blindness, congenital stationary (complete), 1C, autosomal recessive	.	0	1506	16	0	0	16	0.00528402	.	.	338386	not_provided|TRPM1-related_disorder|Congenital_stationary_night_blindness_1C	MedGen:C3661900|.|MONDO:MONDO:0013183,MedGen:C2750747,OMIM:613216,Orphanet:215	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.16	T	0.169	B	0.05	B	0.001	N	1.000	D	0	N	0.79	T	-1.044	T	0.071	T	0.343	1.163	9.733	4.97	2.298	4.287	13.720	0.071	0.0173083298104	0.0002	0.000798722	0.0010	0	0.0003	0.0001	0	4.497e-05	0	0.0070	0.0008409	130	154602	rs374376006	0.0005	0.0005	0.0003	0.0008	0.0080	0.0005	0.0005	0.0075	0.0073	0	0	0	2.519e-05	0	0.0023	3.058e-05	0.0005	0.0080	0.0003	0.0003	0.0001	0.0005	0.0091	0.0002	0.0002	0.0070	0.0062	0	0	0	0	0	0	0	7.352e-05	0	0.0091	0.09	0.34982	T	0.36	0.17014	T	0.105	0.25993	B	0.036	0.22909	B	0.001441	0.38980	N	0.261461	0.978652	0.39483	D	0	0.06538	N	0.79	0.53088	T	-0.73	0.20576	N	0.191	0.24260	-1.0441	0.16089	T	0.071	0.28773	T	10	0.004579723	0.00095	T	0.017308	0.38957	T	0.071	0.20720	.	.	0.33110744837	0.32714	0.23257025644392834	0.23172	0.235449902701	0.26076	0.414190948009	0.27037	T	0.112655	0.42909	T	-0.445086	0.01207	T	-0.407266	0.32542	T	0.0387853520786441	0.03471	T	0.831417	0.49863	T	0.10582837	0.25023	0.0833775	0.19104	0.12601747	0.29527	0.07812132	0.17469	-6.174	0.49283	T	.	.	0.072	0.05579	B	.;.;.;.;.	.;.;.;.;.	1.885926	0.23953	16.21	0.97583065684799442	0.34747	0.96903	0.71570	D	AEFDBCI	0.393222	0.47095	N	-0.409194926242118	0.25145	1.36289	-0.284009402525718	0.28623	1.597451	0.999999997988619	0.74766	0.615755	0.39536	0	0.618376	0.53248	0	0.657636	0.52715	0	0.564101	0.26826	0	.	.	4.97	4.97	0.65419	3.527000	0.53272	0.710000	0.20927	0.618000	0.50648	0.996000	0.39380	0.554000	0.25484	0.065000	0.16320	0.0:0.0:1.0:0.0	13.720	0.62204	819	0.41190	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1619.98	42	chr15	31050561	.	G	T	1619.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.371e+00;DP=887;ExcessHet=0.0000;FS=6.529;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.00;ReadPosRankSum=-1.758e+00;SOR=0.309	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:43,65:108:99:1|0:31050541_C_T:1634,0,1596:31050541	20	0	1	0
chr15	31229304	31229304	G	-	exonic	LOC283710	.	frameshift deletion	LOC283710:NM_001243538:exon2:c.75delC:p.R26Gfs*101,	.	.	454	9	11	367	681	1426	0.976409	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7857	53256.77	60	chr15	31229302	.	CGG	C,CG	53256.77	.	AC=29,13;AF=0.690,0.310;AN=42;BaseQRankSum=1.54;DP=1738;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=NaN;MLEAC=30,12;MLEAF=0.714,0.286;MQ=60.00;MQRankSum=0.00;QD=28.91;ReadPosRankSum=-3.970e-01;SOR=0.473	GT:AD:DP:GQ:PL	1/2:0,57,19:76:99:2603,491,319,1694,0,1489	0	10	0	0
chr15	34038924	34038924	-	CCGCCGCCGCCT	exonic	AVEN	.	nonframeshift insertion	AVEN:NM_020371:exon1:c.122_123insAGGCGGCGGCGG:p.G45_D46insGGGG,	.	.	593	759	112	48	10	218	0.12051	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.125	756.33	5	chr15	34038912	.	CCCGCCGCCGCCT	C,CCCGCCGCCGCCTCCGCCGCCGCCT	756.33	.	AC=4,1;AF=0.100,0.025;AN=40;BaseQRankSum=0.319;DP=163;ExcessHet=0.0454;FS=2.917;InbreedingCoeff=0.2461;MLEAC=4,1;MLEAF=0.100,0.025;MQ=60.00;MQRankSum=0.00;QD=21.61;ReadPosRankSum=-4.240e-01;SOR=1.230	GT:AD:DP:GQ:PL	0/1:5,2,0:7:69:69,0,204,84,210,294	16	1	2	1
chr15	34355938	34355938	A	G	exonic	NUTM1	.	nonsynonymous SNV	NUTM1:NM_001284293:exon7:c.A1900G:p.T634A	.	.	414	1105	3	0	0	3	0.00135563	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.15	T	0.007	B	0.007	B	0.819	N	1.000	N	1.7	L	3.1	T	-0.977	T	0.023	T	0.035	1.760	11.84	1.87	0.039	0.413	6.194	0.020	0.00331136080883	.	.	0.0001	0	0	0	0	1.568e-05	0.0011	0.0008	0.0001035	16	154602	rs769859248	9.03e-05	9.029e-05	5.99e-05	0.0001	0.0010	7.756e-05	7.3e-05	0.0008	0.0008	0	2.236e-05	0	0	0	0.0005	3.597e-05	4.967e-05	0.0010	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	0.145	0.25768	T	0.295	0.20811	T	0.004	0.12183	B	0.003	0.08700	B	0.818983	0.09193	N	0.913228	1	0.08975	N	1.795	0.47270	L	3.1	0.08283	T	-0.93	0.24898	N	0.034	0.00942	-0.9769	0.35705	T	0.023	0.09878	T	10	0.023970276	0.00644	T	0.003311	0.07359	T	0.020	0.03691	.	.	0.18274738541	0.17906	0.0531112443718815	0.05253	0.0718842067484	0.08051	0.290602624416	0.09010	T	0.003309	0.02718	T	-0.640025	0.00083	T	-0.770116	0.02764	T	0.0181745439767838	0.00538	T	0.50295	0.15803	T	0.049234256	0.08710	0.041759472	0.04819	0.049234256	0.08709	0.041759472	0.04819	-2.554	0.06428	T	.	.	0.094	0.17189	B	.;.;.;.	.;.;.;.	0.150753	0.05428	1.903	0.89849315008662678	0.19155	0.05423	0.11295	N	AEFDBI	0.054514	0.09919	N	-0.804790199072063	0.13187	0.6479212	-0.839311658603242	0.13544	0.7032268	0.922077791824634	0.26696	0.651	0.46895	0	0.547309	0.14657	0	0.65145	0.50148	0	0.528226	0.09195	0	.	.	5.63	1.87	0.24559	0.419000	0.20967	1.262000	0.25237	0.756000	0.94297	0.000000	0.06391	0.083000	0.22416	0.017000	0.10941	0.5225:0.3908:0.0867:0.0	6.194	0.19752	675	0.60470	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1598.98	36	chr15	34355938	.	A	G	1598.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.062;DP=829;ExcessHet=0.0000;FS=1.561;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.81;ReadPosRankSum=1.30;SOR=0.689	GT:AD:DP:GQ:PL	0/1:47,61:108:99:1613,0,1159	20	0	1	0
chr15	34860118	34860118	T	C	exonic	AQR	.	nonsynonymous SNV	AQR:NM_014691:exon34:c.A4067G:p.K1356R,	.	.	439	1078	5	0	0	5	0.00231374	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.17	T	0.029	B	0.013	B	0.000	D	0.997	D	2.045	M	.	.	-0.683	T	0.277	T	0.226	3.294	17.07	5.77	2.227	7.768	16.149	0.073	0.0173284558765	.	.	4.174e-05	0	0	0	0	0	0	0.0003	3.23e-05	5	154602	rs758025675	1.16e-05	1.642e-05	4.299e-06	1.908e-05	0.0004	6.87e-06	5.56e-06	0.0001	9.387e-05	0	0	0	0	0	0.0004	0	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.301	0.14449	T	0.255	0.23365	T	0.029	0.19866	B	0.013	0.16460	B	0.000060	0.53742	D	0.194076	0.996649	0.43328	D	1.385	0.34509	L	-1.56	0.81815	D	-0.72	0.20358	N	0.404	0.44474	-0.6827	0.61248	T	0.277	0.64865	T	9	0.1905306	0.34700	T	0.017328	0.38985	T	.	.	0.382	0.39970	0.584753554331	0.58148	0.2697841910892979	0.26891	0.0521985134838	0.05745	0.572510719299	0.49033	T	0.084525	0.37297	T	-0.199026	0.20944	T	-0.233521	0.51430	T	0.282987662664853	0.24297	T	0.855414	0.54290	D	0.15358002	0.34804	0.10204855	0.24449	0.15358002	0.34804	0.10204855	0.24448	-2.516	0.05891	T	.	.	0.079	0.07412	B	.	.	3.333885	0.45906	22.2	0.99635603458720357	0.76326	0.99427	0.95892	D	AEBI	0.886172	0.81732	D	0.191455208526861	0.50790	3.265613	0.359491119995466	0.59082	4.083089	0.999999999856538	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.727631	0.95156	0	.	.	5.77	5.77	0.91077	7.748000	0.83977	7.830000	0.70079	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:0.0:1.0	16.149	0.81412	923	0.18507	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1229.98	34	chr15	34860118	.	T	C	1229.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.360e-01;DP=802;ExcessHet=0.0000;FS=1.548;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.18;ReadPosRankSum=-2.060e+00;SOR=0.931	GT:AD:DP:GQ:PL	0/1:55,55:110:99:1244,0,1290	20	0	1	0
chr15	36808331	36808331	C	G	exonic	CDIN1	.	nonsynonymous SNV	CDIN1:NM_001321758:exon9:c.C613G:p.P205A	.	.	425	1096	1	0	0	1	0.000455996	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06	T	0.997	D	0.942	D	0.000	D	1.000	D	2.005	M	0.78	T	-0.576	T	0.288	T	0.828	2.862	15.53	5.41	2.816	7.268	19.394	0.343	0.0172350120085	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.044	0.49613	D	0.115	0.49663	T	0.997	0.70673	D	0.942	0.67772	D	0.000001	0.84330	D	0.057253	1	0.81001	D	2.41	0.69639	M	0.78	0.49358	T	-5.33	0.85692	D	0.692	0.80572	-0.5755	0.65795	T	0.288	0.65997	T	10	0.76050305	0.76308	D	0.017235	0.38857	T	0.343	0.66488	0.515	0.61459	0.415438038341	0.41156	0.5835014524172338	0.58279	0.46950609281	0.46258	.	.	.	0.486584	0.86639	T	0.231328	0.76846	D	0.0945096	0.76545	D	0.993881821632385	0.84878	D	0.920908	0.82399	D	0.3056992	0.53411	0.39580217	0.64238	0.3056992	0.53411	0.39580217	0.64238	-6.943	0.56883	T	.	.	0.363	0.58756	A	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	4.577910	0.72295	25.8	0.97148336112847877	0.32573	0.97273	0.73721	D	AEFDBCI	0.855167	0.77225	D	0.788648153549604	0.85390	8.561728	0.783014452676314	0.88589	9.638884	1.0	0.98316	0.615465	0.37627	0	0.588015	0.36545	0	0.658983	0.55881	0	0.695668	0.68540	0	.	.	5.41	5.41	0.78313	7.386000	0.79041	7.723000	0.67399	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.0:1.0:0.0:0.0	19.394	0.94589	941	0.13089	.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	882.98	33	chr15	36808331	.	C	G	882.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-9.730e-01;DP=791;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.92;ReadPosRankSum=-1.418e+00;SOR=0.752	GT:AD:DP:GQ:PL	0/1:50,39:89:99:897,0,1257	20	0	1	0
chr15	40356171	40356171	T	0	exonic	PHGR1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2667	5832.96	33	chr15	40356171	.	T	C,*	5832.96	.	AC=6,2;AF=0.200,0.067;AN=30;BaseQRankSum=0.782;DP=1060;ExcessHet=0.7503;FS=26.034;InbreedingCoeff=0.0319;MLEAC=8,3;MLEAF=0.267,0.100;MQ=59.86;MQRankSum=0.00;QD=14.77;ReadPosRankSum=-8.330e-01;SOR=1.530	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:23,21,0:44:99:0|1:40356171_T_C:729,0,903,798,966,1764:40356171	8	1	4	6
chr15	40356195	40356195	T	0	exonic	PHGR1	.	.	.	.	.	539	674	108	8	193	317	0.0842391	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2667	4456.62	33	chr15	40356195	.	T	C,*	4456.62	.	AC=6,2;AF=0.200,0.067;AN=30;BaseQRankSum=-1.037e+00;DP=1008;ExcessHet=0.5418;FS=9.495;InbreedingCoeff=-0.1085;MLEAC=7,2;MLEAF=0.233,0.067;MQ=59.85;MQRankSum=0.00;QD=10.82;ReadPosRankSum=-1.283e+00;SOR=1.256	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:30,30,0:60:99:0|1:40356171_T_C:556,0,1196,646,1260,1906:40356171	8	1	4	6
chr15	40356196	40356196	G	0	exonic	PHGR1	.	.	.	.	.	536	677	108	8	193	317	0.0838972	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2667	4344.62	33	chr15	40356196	.	G	C,*	4344.62	.	AC=6,2;AF=0.200,0.067;AN=30;BaseQRankSum=0.941;DP=999;ExcessHet=0.5418;FS=8.160;InbreedingCoeff=-0.1085;MLEAC=7,2;MLEAF=0.233,0.067;MQ=59.84;MQRankSum=0.00;QD=10.65;ReadPosRankSum=-1.374e+00;SOR=1.208	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:30,30,0:60:99:0|1:40356171_T_C:556,0,1196,646,1260,1906:40356171	8	1	4	6
chr15	40356197	40356197	G	0	exonic	PHGR1	.	.	.	.	.	535	678	108	8	193	317	0.0837838	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2353	4345.87	33	chr15	40356197	.	G	A,*	4345.87	.	AC=6,2;AF=0.176,0.059;AN=34;BaseQRankSum=0.00;DP=1001;ExcessHet=0.5418;FS=8.243;InbreedingCoeff=-0.0558;MLEAC=7,2;MLEAF=0.206,0.059;MQ=59.84;MQRankSum=0.00;QD=10.70;ReadPosRankSum=-1.551e+00;SOR=1.232	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:30,30,0:60:99:0|1:40356171_T_C:556,0,1196,646,1260,1906:40356171	10	1	4	4
chr15	41862626	41862626	C	A	exonic	SPTBN5	.	nonsynonymous SNV	SPTBN5:NM_016642:exon43:c.G7298T:p.R2433I,	.	.	409	1112	1	0	0	1	0.000449438	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.863	P	0.541	P	0.596	N	1.000	N	1.025	L	0.7	T	-0.987	T	0.124	T	0.274	1.289	10.21	0.86	-0.103	0.266	5.773	0.081	0.0631871251756	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.116e-07	4.788e-06	1.407e-06	0	1.249e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.249e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	0.53172	D	0.006	0.70582	D	0.863	0.47474	P	0.541	0.48869	P	0.595652	0.05616	N	1.231370	1	0.08975	N	1.345	0.33447	L	0.7	0.51474	T	-5.1	0.83027	D	0.359	0.40063	-0.9867	0.33420	T	0.124	0.42862	T	10	0.30545264	0.48063	T	0.063187	0.68888	D	0.081	0.23632	0.542	0.65446	0.723075696567	0.72062	0.0908083495324307	0.09013	.	.	0.33579647541	0.15808	T	0.09768	0.40075	T	-0.181744	0.23478	T	-0.498839	0.22468	T	0.942724525928497	0.61719	D	0.663934	0.27277	T	0.25370884	0.48394	0.35221165	0.60803	0.25370884	0.48394	0.35221165	0.60802	-5.994	0.46229	T	.	.	0.133	0.28807	B	.	.	1.828495	0.23235	15.94	0.96179701733220413	0.28957	0.07552	0.13565	N	AEFDBI	0.080005	0.16169	N	-0.481457994346437	0.22689	1.213272	-0.637887630589222	0.18523	0.989879	0.956279304497263	0.28238	0.608966	0.35542	0	0.59043	0.45803	0	0.769059	0.98459	0	0.635551	0.53088	0	.	.	5.1	0.86	0.18179	0.002000	0.12962	0.033000	0.13759	0.531000	0.24825	0.000000	0.06391	0.001000	0.17328	0.127000	0.19450	0.0:0.5269:0.2994:0.1737	5.773	0.17529	196	0.92420	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	971.98	33	chr15	41862626	.	C	A	971.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.979e+00;DP=807;ExcessHet=0.0000;FS=0.960;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.95;ReadPosRankSum=0.039;SOR=0.507	GT:AD:DP:GQ:PL	0/1:31,34:65:99:986,0,894	20	0	1	0
chr15	42417393	42417393	G	C	exonic	ZNF106	.	nonsynonymous SNV	ZNF106:NM_001381998:exon20:c.C3079G:p.L1027V,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.743e-06	0.0001	0	5.513e-06	3.606e-06	6.4e-07	4.3e-07	8.4e-07	5.7e-07	0	0	0	0	0	0	3.606e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0625	255.21	39	chr15	42417393	.	G	C,A	255.21	.	AC=1,1;AF=0.031,0.031;AN=32;BaseQRankSum=-3.444e+00;DP=1006;ExcessHet=0.1072;FS=168.945;InbreedingCoeff=-0.1270;MLEAC=1,1;MLEAF=0.031,0.031;MQ=60.00;MQRankSum=0.00;QD=1.89;ReadPosRankSum=-1.880e-01;SOR=7.427	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:39,0,13:52:99:0|1:42417393_G_A:104,220,1365,0,1144,1108:42417393	14	0	1	5
chr15	42417393	42417393	G	A	exonic	ZNF106	.	nonsynonymous SNV	ZNF106:NM_001381998:exon20:c.C3079T:p.L1027F,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.26e-06	0	0	0	0	1.502e-05	0	0	6.5e-06	1	154602	rs766932726	6.857e-07	1.368e-06	0	1.378e-06	9.015e-07	0	0	.	.	0	0	0	0	0	0	9.015e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0625	255.21	39	chr15	42417393	.	G	C,A	255.21	.	AC=1,1;AF=0.031,0.031;AN=32;BaseQRankSum=-3.444e+00;DP=1006;ExcessHet=0.1072;FS=168.945;InbreedingCoeff=-0.1270;MLEAC=1,1;MLEAF=0.031,0.031;MQ=60.00;MQRankSum=0.00;QD=1.89;ReadPosRankSum=-1.880e-01;SOR=7.427	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:39,0,13:52:99:0|1:42417393_G_A:104,220,1365,0,1144,1108:42417393	14	0	1	5
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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	78588.79	38	chr15	42685478	.	G	A,GTGAGCTCCAA	78588.79	.	AC=13,1;AF=0.310,0.024;AN=42;BaseQRankSum=-2.021e+00;DP=5578;ExcessHet=2.0984;FS=0.534;InbreedingCoeff=-0.0714;MLEAC=13,1;MLEAF=0.310,0.024;MQ=60.00;MQRankSum=0.00;QD=15.43;ReadPosRankSum=-9.180e-01;SOR=0.645	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:212,231,0:443:99:.:.:5473,0,5704,6109,6362,12472	9	2	9	0
chr15	43795520	43795520	C	T	exonic	SERINC4	.	nonsynonymous SNV	SERINC4:NM_001258032:exon10:c.G479A:p.R160K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.94	T	0.001	B	0.001	B	0.484	N	1.000	N	0.695	N	2.6	T	-0.934	T	0.017	T	0.109	-2.061	0.006	0.992	-0.051	0.255	5.855	0.016	0.00213534189194	.	0.000599042	9.885e-05	0	0	0	0	0	0	0.0007	9.7e-05	15	154602	rs201646905	6.362e-05	6.362e-05	3.675e-05	9.075e-05	0.0010	5.294e-05	4.911e-05	0.0008	0.0007	0	0	0	0	0	0.0002	0	0.0002	0.0010	3.939e-05	3.937e-05	2.569e-05	5.371e-05	0.0012	1.714e-05	1.129e-05	0.0005	0.0004	0	0	0	0	0	0	0	0	0	0.0012	0.942	0.02186	T	0.912	0.02943	T	.	.	.	.	.	.	0.483973	0.12133	N	0.797530	0.999999	0.08975	N	0.805	0.20218	L	2.6	0.13204	T	0.2	0.04861	N	0.08	0.05542	-0.9344	0.43485	T	0.017	0.07092	T	10	0.007369399	0.00167	T	0.002135	0.03962	T	0.016	0.02506	0.486	0.56939	0.0401082797425	0.02173	0.3615124457238776	0.36065	0.00693086954409	0.00608	0.350611627102	0.18011	T	0.002043	0.01452	T	-0.419589	0.01721	T	-0.453475	0.27313	T	0.0121065670390818	0.00193	T	0.480552	0.14510	T	0.045461174	0.07445	0.039968096	0.04213	0.045461174	0.07445	0.039968096	0.04213	-3.351	0.14404	T	.	.	0.081	0.08081	B	.	.	-0.097370	0.03657	0.733	0.52087930472414301	0.04682	0.25776	0.22799	N	AEFDBHCI	0.113936	0.22461	N	-1.24770259659947	0.04330	0.1952213	-1.21145935950944	0.05725	0.2735934	0.999998356477032	0.74766	0.645754	0.44609	0	0.696144	0.67643	0	0.696144	0.63334	0	0.662433	0.64102	0	.	.	6.17	0.992	0.18937	0.811000	0.26855	-0.118000	0.11753	-0.830000	0.02882	0.000000	0.06391	0.000000	0.08366	0.111000	0.18785	0.0:0.506:0.1249:0.3691	5.855	0.17966	6	0.99319	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1368.98	39	chr15	43795520	.	C	T	1368.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.05;DP=802;ExcessHet=0.0000;FS=4.591;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.45;ReadPosRankSum=1.18;SOR=0.845	GT:AD:DP:GQ:PL	0/1:58,52:110:99:1383,0,1456	20	0	1	0
chr15	45106877	45106877	G	A	exonic	DUOX2	.	nonsynonymous SNV	DUOX2:NM_001363711:exon15:c.C1786T:p.P596S	Thyroid dyshormonogenesis 6, Autosomal recessive	.	1	1508	12	1	0	14	0.00462046	.	.	873641	Thyroid_dyshormonogenesis_6|not_provided	MONDO:MONDO:0011792,MedGen:C1846632,OMIM:607200,Orphanet:95716|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.43	T	0.032	B	0.041	B	0.008	N	0.996	N	1.61	L	.	.	-0.998	T	0.114	T	0.28	0.108	4.581	0.638	-0.153	1.306	15.679	0.079	.	0.0002	0.00938498	0.0115	0.0005	0.0027	0	0	0.0001	0.0030	0.0563	0.0053363	825	154602	rs373790251	0.0031	0.0031	0.0016	0.0045	0.0508	0.0030	0.0029	0.0495	0.0490	0.0001	0	0	2.566e-05	0	0.0023	1.636e-05	0.0032	0.0508	0.0016	0.0016	0.0008	0.0024	0.0481	0.0014	0.0014	0.0430	0.0411	0.0002	0	6.533e-05	0	0	0	0	0	0.0009	0.0481	0.428	0.09600	T	0.416	0.14284	T	0.01	0.15535	B	0.017	0.18140	B	0.007831	0.31171	N	0.353495	0.995539	0.23266	N	2.125	0.59049	M	-1.95	0.85003	D	0.92	0.01573	N	0.412	0.45237	-0.9979	0.30507	T	0.114	0.40490	T	9	0.0051925182	0.00113	T	.	.	.	0.079	0.23065	.	.	0.860418312386	0.85907	0.3534901158262429	0.35263	0.103735805567	0.11741	0.270246207714	0.06172	T	0.018832	0.48430	T	-0.388666	0.02744	T	-0.293824	0.45372	T	0.00591628297152194	0.00065	T	0.908909	0.67748	D	0.0370762	0.04685	0.08642148	0.20022	0.04516105	0.07345	0.08642148	0.20021	-5.007	0.36916	T	0.19867786469457788	0.26316	0.093	0.13830	B	.;.	.;.	1.744282	0.22190	15.52	0.74999565230947007	0.10907	0.65193	0.32656	D	AEFDBI	0.248372	0.36879	N	-0.612444355669082	0.18569	0.9651273	-0.568781412310757	0.20309	1.093619	0.061507942830536	0.15233	0.59774	0.34471	0	0.59043	0.45803	0	0.596491	0.31596	0	0.530356	0.10902	0	.	.	4.99	0.638	0.16913	1.474000	0.35006	0.653000	0.20435	-0.153000	0.12021	0.812000	0.29879	0.088000	0.22492	0.212000	0.22240	0.0:0.6949:0.2088:0.0963	15.679	0.77111	596	0.68392	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	0.02381	898.98	38	chr15	45106877	.	G	A	898.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.110e-01;DP=842;ExcessHet=0.0000;FS=5.717;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.10;ReadPosRankSum=-1.409e+00;SOR=0.989	GT:AD:DP:GQ:PL	0/1:42,39:81:99:913,0,1046	20	0	1	0
chr15	45134175	45134175	G	A	exonic	DUOX1	.	nonsynonymous SNV	DUOX1:NM_175940:exon4:c.G173A:p.S58N	.	.	425	1086	10	1	0	12	0.00549451	.	.	3185087	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.67	T	0.0	B	0.002	B	0.053	N	1.000	N	-0.77	N	-0.36	T	-1.026	T	0.058	T	0.034	0.847	8.422	1.88	0.785	0.187	8.098	0.107	0.00383113291475	0.0042	0.00459265	0.0050	0.0013	0.0024	0	0.0045	0.0069	0.0063	0.0045	0.0050905	787	154602	rs145196561	0.0068	0.0068	0.0068	0.0069	0.0086	0.0067	0.0067	0.0076	0.0076	0.0013	0.0028	0.0080	0	0.0029	0.0086	0.0078	0.0053	0.0043	0.0045	0.0045	0.0050	0.0041	0.0071	0.0043	0.0041	0.0066	0.0064	0.0015	0.0055	0.0025	0.0095	0	0.0024	0.0102	0.0071	0.0043	0.0058	0.917	0.02327	T	0.868	0.03333	T	0.0	0.02946	B	0.002	0.06944	B	0.053070	0.22840	N	0.504809	0.896334	0.27787	N	-0.61	0.02200	N	-0.36	0.68754	T	-0.46	0.14978	N	0.118	0.10769	-1.0264	0.21625	T	0.058	0.24279	T	10	0.010817796	0.00239	T	0.003831	0.08961	T	0.107	0.30369	.	.	0.645372302287	0.64243	0.22294438598028268	0.22209	0.281783131729	0.30648	0.355418264866	0.18717	T	0.049293	0.28264	T	-0.591187	0.00165	T	-0.612581	0.11776	T	0.00122806972570728	0.00012	T	0.184981	0.01915	T	0.14394163	0.33061	0.10353839	0.24844	0.14394163	0.33061	0.10353839	0.24843	-3.615	0.18074	T	.	.	0.097	0.15743	B	.;.	.;.	1.652418	0.21080	15.04	0.72958639464016994	0.10156	0.66027	0.32937	D	AEFBI	0.212019	0.33775	N	-0.682854551227679	0.16511	0.8418313	-0.471633601843445	0.22940	1.248467	0.993368665271545	0.33186	0.59774	0.34471	0	0.563428	0.19063	0	0.596491	0.31596	0	0.63947	0.58350	0	.	.	5.01	1.88	0.24630	0.204000	0.17133	1.200000	0.24830	0.676000	0.76740	0.865000	0.30702	0.996000	0.32793	0.978000	0.57271	0.0917:0.4751:0.4332:0.0	8.098	0.29999	616	0.66398	Dual oxidase, peroxidase domain;Dual oxidase, peroxidase 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	0.02381	679.98	37	chr15	45134175	.	G	A	679.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.075e+00;DP=817;ExcessHet=0.0000;FS=4.223;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=7.82;ReadPosRankSum=-6.690e-01;SOR=0.474	GT:AD:DP:GQ:PL	0/1:54,33:87:99:694,0,1478	20	0	1	0
chr15	45135290	45135290	C	T	exonic	DUOX1	.	nonsynonymous SNV	DUOX1:NM_175940:exon5:c.C494T:p.P165L	.	.	6	1501	13	2	0	17	0.005631	0.0002	0.01	.	.	.	.	.	.	.	.	.	.	.	.	.	0.29	T	0.0	B	0.001	B	0.018	N	1.000	N	-1.06	N	-0.29	T	-1.060	T	0.048	T	0.11	0.802	8.218	-0.711	0.071	1.884	3.530	0.081	.	0.0036	0.0119808	0.0105	0.0151	0.0009	0.0002	0	0.0002	0.0032	0.0545	0.0065394	1011	154602	rs201314048	0.0035	0.0035	0.0021	0.0049	0.0501	0.0034	0.0033	0.0488	0.0483	0.0127	0.0003	0	2.558e-05	0	0.0027	6.945e-05	0.0034	0.0501	0.0047	0.0048	0.0039	0.0056	0.0446	0.0044	0.0043	0.0397	0.0378	0.0116	0	0.0007	0	0	0	0	5.881e-05	0.0038	0.0446	0.304	0.14303	T	0.535	0.09931	T	0.0	0.02946	B	0.001	0.04355	B	0.018262	0.27521	N	0.334485	0.745488	0.29692	N	-1.04	0.01097	N	-0.29	0.67712	T	0.29	0.04161	N	0.29	0.33904	-1.0600	0.11756	T	0.048	0.20672	T	10	0.002321452	0.00034	T	.	.	.	0.081	0.23632	.	.	0.521173705876	0.51762	0.49126523940544053	0.49047	0.306097199594	0.32911	0.403198838234	0.25514	T	0.065711	0.32758	T	-0.559368	0.00256	T	-0.541232	0.18174	T	0.0195847465045476	0.00661	T	0.424758	0.11367	T	0.12910745	0.30164	0.067281365	0.13896	0.12910745	0.30164	0.067281365	0.13896	-2.517	0.05898	T	.	.	0.051	0.00172	B	.;.	.;.	1.336851	0.17426	13.16	0.93366076201998627	0.23108	0.24847	0.22519	N	AEFDBCI	0.104651	0.20933	N	-1.00667812711471	0.08464	0.3969793	-0.846518354240687	0.13371	0.6932852	0.935703769657464	0.27224	0.59774	0.34471	0	0.596491	0.49125	0	0.606814	0.37721	0	0.63947	0.58350	0	.	.	3.55	-0.711	0.10664	2.024000	0.40670	0.747000	0.21206	-0.174000	0.10959	1.000000	0.71638	0.999000	0.35428	0.502000	0.29062	0.4733:0.1116:0.0:0.4151	3.530	0.07331	616	0.66398	Dual oxidase, peroxidase domain;Dual oxidase, peroxidase domain	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1619.98	37	chr15	45135290	.	C	T	1619.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=4.02;DP=867;ExcessHet=0.0000;FS=5.248;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=56.72;MQRankSum=-5.334e+00;QD=13.73;ReadPosRankSum=-5.610e-01;SOR=1.246	GT:AD:DP:GQ:PL	0/1:62,56:118:99:1634,0,1508	20	0	1	0
chr15	51480616	51480616	G	C	exonic	DMXL2	.	nonsynonymous SNV	DMXL2:NM_001378460:exon21:c.C4471G:p.L1491V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.997	D	0.000	D	1.000	D	1.995	M	-2.06	D	0.483	D	0.707	D	0.844	3.820	19.40	5.77	2.729	6.766	13.230	0.704	0.117777155765	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.094e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	0.998	0.73220	D	0.984	0.76113	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.405	0.69568	M	-2.06	0.85875	D	-2.88	0.60507	D	0.74	0.79406	0.483	0.90301	D	0.707	0.89914	D	10	0.7455675	0.75263	D	0.117777	0.79764	D	0.704	0.89376	0.462	0.53079	0.79628066686	0.79438	0.5831259576205228	0.58241	0.790969623184	0.65777	0.804797291756	0.82694	D	0.413358	0.76724	T	0.355009	0.86863	D	0.27217	0.86691	D	0.983855545520782	0.75369	D	0.938406	0.78595	D	0.71831286	0.79067	0.66708344	0.80475	0.71831286	0.79069	0.66708344	0.80476	-6.497	0.50739	T	.	.	0.783	0.76515	P	.;.;.	.;.;.	4.493995	0.70227	25.5	0.99814742571298831	0.89797	0.98484	0.83265	D	AEFBI	0.820937	0.74161	D	0.826416697591381	0.87726	9.319382	0.824365288908583	0.91435	10.88461	0.9999938428267	0.74766	0.651	0.46895	0	0.708844	0.79440	0	0.658983	0.55881	0	0.655142	0.61905	0	.	.	5.77	5.77	0.91077	6.935000	0.75699	11.904000	0.99435	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.0725:0.0:0.9275:0.0	13.230	0.59363	505	0.75648	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.3824	1772.96	148	chr15	51480616	.	G	C	1772.96	.	AC=13;AF=0.382;AN=34;BaseQRankSum=-4.061e+00;DP=2481;ExcessHet=11.8493;FS=476.218;InbreedingCoeff=-0.5815;MLEAC=15;MLEAF=0.441;MQ=60.00;MQRankSum=0.00;QD=1.03;ReadPosRankSum=0.533;SOR=13.073	GT:AD:DP:GQ:PL	0/1:86,41:127:44:44,0,1939	4	0	13	4
chr15	52124541	52124541	C	T	exonic	GNB5	.	nonsynonymous SNV	GNB5:NM_001379343:exon10:c.G826A:p.V276I	Intellectual developmental disorder with cardiac arrhythmia, Autosomal recessive;Language delay and ADHD/cognitive impairment with or without cardiac arrhythmia, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	1198640	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.13	T	0.338	B	0.075	B	0.000	D	1.000	D	-0.055	N	-0.25	T	-0.899	T	0.140	T	0.155	2.940	15.80	5.07	1.560	5.905	15.341	0.139	0.0200841328808	.	.	6.591e-05	0	0	0	0	4.497e-05	0	0.0003	5.17e-05	8	154602	rs763538889	4.516e-05	4.515e-05	2.179e-05	6.877e-05	0.0004	3.642e-05	3.322e-05	0.0003	0.0002	0.0001	0.0001	0	0	0	0	2.069e-05	4.969e-05	0.0004	3.938e-05	3.937e-05	5.139e-05	2.684e-05	0.0004	1.714e-05	1.128e-05	7.29e-05	3.029e-05	0	0	0.0002	0	0	0	0	1.47e-05	0	0.0004	0.118	0.29554	T	0.202	0.27591	T	0.009	0.33405	B	0.007	0.28327	B	0.000000	0.84330	D	0.000000	1	0.81001	D	.	.	.	-0.25	0.67011	T	-0.66	0.19085	N	0.255	0.33904	-0.8987	0.48125	T	0.140	0.45903	T	10	0.2358593	0.40655	T	0.020084	0.42598	T	0.139	0.37390	0.714	0.84962	0.605332244828	0.60217	0.3871397900187157	0.38628	0.378931172671	0.39296	0.801466464996	0.82186	T	0.142	0.47767	T	-0.282412	0.10413	T	-0.343118	0.39990	T	0.169850423932076	0.18570	T	0.956404	0.84623	D	0.11243324	0.26562	0.08883867	0.20737	0.11243324	0.26561	0.08883867	0.20737	-7.61	0.60325	D	0.1546909591715261	0.18490	0.113	0.22135	B	.;.;.	.;.;.	3.713200	0.53021	23.3	0.9903017514922321	0.50786	0.85600	0.44750	D	ALL	0.538707	0.55599	D	-0.289808579406243	0.29540	1.639107	-0.146455844635163	0.33545	1.919954	0.999999999999842	0.74766	0.730579	0.87903	0	0.719019	0.82233	0	0.643519	0.47002	0	0.648885	0.59868	0	.	.	5.98	5.07	0.68106	5.985000	0.70235	7.611000	0.61914	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.430000	0.27449	0.0:0.9334:0.0:0.0666	15.341	0.74012	260	0.89800	WD40-repeat-containing domain;.;WD40-repeat-containing domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.04762	2819.11	35	chr15	52124541	.	C	T	2819.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.477;DP=955;ExcessHet=0.1072;FS=3.258;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=9.93;ReadPosRankSum=1.02;SOR=0.521	GT:AD:DP:GQ:PL	0/1:81,66:147:99:1542,0,1933	19	0	2	0
chr15	55439574	55439574	T	C	exonic	DNAAF4	.	nonsynonymous SNV	DNAAF4:NM_001033559:exon7:c.A791G:p.H264R	Ciliary dyskinesia, primary, 25, Autosomal recessive	.	447	1072	2	1	0	4	0.0018622	.	.	400428	not_provided|Inborn_genetic_diseases	MedGen:C3661900|MeSH:D030342,MedGen:C0950123	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.61	T	0.999	D	0.943	D	0.052	U	0.637	N	1.23	L	0.28	T	-0.780	T	0.225	T	0.498	2.866	15.55	3.76	1.991	0.306	10.156	0.151	0.0111283990208	0.0002	.	0.0001	0	0.0002	0	0	0.0002	0	6.078e-05	0.0001682	26	154602	rs375468265	0.0002	0.0002	0.0002	0.0002	0.0069	0.0002	0.0002	0.0052	0.0046	8.966e-05	0.0003	0	0	0	0.0069	0.0002	0.0003	0.0001	0.0001	0.0001	7.708e-05	0.0002	0.0004	8.657e-05	7.25e-05	0.0001	7.894e-05	0	0	0.0003	0	0	0	0	0.0002	0.0009	0.0004	0.604	0.05567	T	0.779	0.04344	T	0.999	0.77913	D	0.943	0.67921	D	0.051540	0.22974	U	0.443439	0.637046	0.30649	N	.	.	.	0.28	0.59037	T	-0.89	0.28290	N	0.227	0.35727	-0.7805	0.56274	T	0.225	0.58932	T	10	0.08019015	0.12986	T	0.011128	0.28436	T	0.151	0.39764	.	.	0.76176038058	0.75958	0.2723415135022376	0.27147	0.0541932593687	0.05990	0.379747152328	0.22221	T	0.002421	0.01816	T	-0.251564	0.13907	T	-0.302939	0.44413	T	0.0211971220585429	0.00821	T	0.877812	0.59215	D	0.12353342	0.29005	0.099807605	0.23844	0.12353342	0.29005	0.099807605	0.23843	1.52	0.00300	T	0.13166666013182665	0.13968	0.066	0.03266	B	.;.;.;.	.;.;.;.	1.245880	0.16423	12.53	0.96426556746663228	0.29778	0.48277	0.28171	N	AEFCI	0.188593	0.31586	N	-0.2442286976284	0.31335	1.755943	-0.163271927714601	0.32901	1.876468	0.0426476899009382	0.14535	0.656854	0.48797	0	0.547309	0.14657	0	0.602189	0.34648	0	0.699908	0.69081	0	.	.	4.97	3.76	0.42368	0.292000	0.18766	1.025000	0.23435	0.665000	0.62972	0.309000	0.25405	0.999000	0.35428	0.989000	0.64315	0.1492:0.0:0.0:0.8508	10.156	0.42000	829	0.39537	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.02381	1444.98	40	chr15	55439574	.	T	C	1444.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.563e+00;DP=823;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.02;ReadPosRankSum=1.51;SOR=0.663	GT:AD:DP:GQ:PL	0/1:47,64:111:99:1459,0,1167	20	0	1	0
chr15	56094863	56094863	-	GTGGGT	exonic	RFX7	.	nonframeshift insertion	RFX7:NM_001368073:exon9:c.2573_2574insACCCAC:p.T868_S869insPT	.	.	.	.	.	.	.	.	.	.	.	3204951	RFX7-related_disorder	.	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0007	0	0.0015	0	0	0.0004	0.0059	0.0029	0.0002305	6	26028	rs756499810	0.0007	0.0007	0.0006	0.0008	0.0184	0.0006	0.0006	0.0155	0.0145	0.0006	0.0009	0.0011	2.69e-05	1.988e-05	0.0184	0.0004	0.0010	0.0034	0.0006	0.0006	0.0005	0.0006	0.0019	0.0005	0.0004	0.0014	0.0012	9.664e-05	0	0.0019	0.0006	0	0	0.0138	0.0005	0.0024	0.0019	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1235.94	34	chr15	56094863	.	A	AGTGGGT	1235.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.905;DP=829;ExcessHet=0.0000;FS=3.994;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.61;ReadPosRankSum=-2.229e+00;SOR=1.129	GT:AD:DP:GQ:PL	0/1:63,35:98:99:1250,0,2523	20	0	1	0
chr15	59205423	59205423	G	C	exonic	MYO1E	.	nonsynonymous SNV	MYO1E:NM_004998:exon15:c.C1593G:p.I531M,	Glomerulosclerosis, focal segmental, 6, Autosomal recessive	.	0	1513	9	0	0	9	0.0029654	.	.	390233	not_specified|Microscopic_hematuria|Kidney_disorder|not_provided	MedGen:CN169374|Human_Phenotype_Ontology:HP:0002907,MedGen:C0239937|Human_Phenotype_Ontology:HP:0000112,MONDO:MONDO:0005240,MedGen:C0022658|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0	D	0.995	D	0.986	D	0.000	D	1.000	D	2.19	M	-2.3	D	0.160	D	0.600	D	0.767	3.023	16.09	-4.78	-0.811	0.111	9.068	0.613	.	0.0065	0.00159744	0.0069	0.0019	0.0013	0	0.0239	0.0092	0.0044	0.0019	0.006921	1070	154602	rs140447165	0.0087	0.0087	0.0090	0.0084	0.0099	0.0086	0.0085	0.0098	0.0097	0.0008	0.0012	0.0021	0	0.0195	0.0003	0.0099	0.0061	0.0018	0.0064	0.0064	0.0060	0.0067	0.0091	0.0060	0.0059	0.0085	0.0083	0.0014	0	0.0018	0.0012	0	0.0226	0	0.0091	0.0033	0.0025	0.001	0.78490	D	0.005	0.72224	D	0.995	0.67487	D	0.986	0.76916	D	0.000000	0.84330	D	0.000000	0.999998	0.58761	D	2	0.54354	M	-2.3	0.87671	D	-2.34	0.51811	N	0.855	0.85132	0.160	0.85223	D	0.600	0.85753	D	10	0.015333265	0.00322	T	.	.	.	0.613	0.84879	.	.	0.839400369685	0.83786	0.4769629184325379	0.47616	0.699661806568	0.61046	0.675327539444	0.63600	T	0.742465	0.92878	D	-0.132624	0.31072	T	0.0490424	0.73521	D	0.0556427014271906	0.06464	T	0.984402	0.94639	D	0.7344658	0.79977	0.68983847	0.81751	0.7450149	0.80582	0.68145686	0.81281	-10.722	0.78111	D	.	.	0.276	0.50997	B	.	.	2.206621	0.28145	17.70	0.99169010746788711	0.54326	0.87299	0.46796	D	AEFBI	0.334843	0.43347	N	-0.265317804528077	0.30496	1.701018	-0.415142904420488	0.24553	1.345132	0.999042003454734	0.38290	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.711	0.71501	0	.	.	5.0	-4.78	0.02975	0.035000	0.13685	-2.746000	0.03404	-0.791000	0.03245	0.811000	0.29866	0.000000	0.08366	0.968000	0.53726	0.7184:0.0:0.1589:0.1227	9.068	0.35637	333	0.86326	Myosin head, motor domain|Myosin head, motor domain|Myosin head, motor domain|Class I myosin, motor domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.02381	2204.98	43	chr15	59205423	.	G	C	2204.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.790e-01;DP=882;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.96;ReadPosRankSum=2.16;SOR=0.739	GT:AD:DP:GQ:PL	0/1:70,88:158:99:2219,0,1653	20	0	1	0
chr15	61920571	61920571	T	C	exonic	VPS13C	.	nonsynonymous SNV	VPS13C:NM_017684:exon54:c.A7010G:p.H2337R	Parkinson disease 23, autosomal recessive, early onset, Autosomal recessive	.	441	1056	19	6	0	31	0.0144657	.	.	714521	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.46	T	0.0	B	0.003	B	0.002	N	0.953	N	0.69	N	0.97	T	-1.047	T	0.043	T	0.144	1.427	10.71	2.33	0.467	0.611	8.859	0.033	.	0.0032	0.00399361	0.0045	0.0011	0.0020	0	0.0011	0.0047	0.0045	0.0119	0.0044049	681	154602	rs139993005	0.0038	0.0039	0.0034	0.0042	0.0118	0.0037	0.0037	0.0112	0.0109	0.0004	0.0028	0.0071	5.203e-05	0.0013	0.0092	0.0035	0.0045	0.0118	0.0037	0.0037	0.0036	0.0038	0.0143	0.0034	0.0033	0.0116	0.0106	0.0008	0	0.0065	0.0089	0	0.0013	0.0034	0.0044	0.0066	0.0143	0.508	0.23541	T	.	.	.	0.0	0.02946	B	0.001	0.08700	B	0.001816	0.37945	N	0.307488	0.952639	0.26432	N	1.32	0.33002	L	0.97	0.42502	T	-1.93	0.47008	N	0.098	0.08646	-1.0467	0.15332	T	0.043	0.18535	T	10	0.0075288117	0.00171	T	.	.	.	0.033	0.08068	.	.	0.159798565429	0.15598	0.27352204920263923	0.27265	0.0252766451605	0.02574	0.339246153831	0.16325	T	0.026155	0.19414	T	-0.549585	0.00293	T	-0.552822	0.17056	T	0.00392637551104399	0.00042	T	0.670833	0.27951	T	0.05588135	0.10919	0.06604316	0.13472	0.04874225	0.08542	0.049082384	0.07424	-3.096	0.12726	T	0.13853481815721805	0.15336	0.074	0.04889	B	.;.;.;.;.;.	.;.;.;.;.;.	2.211962	0.28218	17.72	0.89270741776429363	0.18654	0.85309	0.44430	D	AEBI	0.115928	0.22774	N	-0.619862107068032	0.18348	0.9518731	-0.435641988138989	0.23959	1.309383	0.00472150463971071	0.10688	0.732398	0.92422	0	0.743671	0.97443	0	0.658983	0.55881	0	0.727631	0.95156	0	.	.	5.84	2.33	0.27981	0.801000	0.26716	-0.297000	0.10145	-0.133000	0.13014	1.000000	0.71638	0.001000	0.17328	0.990000	0.65344	0.0:0.2132:0.0:0.7868	8.859	0.34403	913	0.21160	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.02381	1292.98	33	chr15	61920571	.	T	C	1292.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.122e+00;DP=838;ExcessHet=0.0000;FS=3.138;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.80;ReadPosRankSum=-8.920e-01;SOR=0.693	GT:AD:DP:GQ:PL	0/1:70,62:132:99:1307,0,1631	20	0	1	0
chr15	63600770	63600770	C	A	exonic	FBXL22	.	nonsynonymous SNV	FBXL22:NM_001367807:exon2:c.C427A:p.R143S,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs985811067	3.707e-06	2.736e-06	1.755e-06	5.889e-06	4.349e-06	8.7e-07	5.9e-07	1.02e-06	6.9e-07	0	0	0	0	0	0	4.349e-06	0	0	6.571e-06	6.566e-06	1.285e-05	0	6.54e-05	0	0	.	.	0	0	6.54e-05	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.26034704	0.43482	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.618638	0.23716	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.141	0.31023	B	.	.	2.713463	0.35474	19.91	0.90119436043660439	0.19400	0.32725	0.24655	N	ALL	.	.	.	.	.	.	.	.	.	0.999999999996021	0.74766	0.199473	0.04044	0	0.033551	0.00054	0	0.215285	0.04585	0	0.054758	0.00131	0	0.265778	0.33488	4.19	-0.195	0.12586	2.140000	0.41783	0.766000	0.21355	0.463000	0.21641	1.000000	0.71638	0.035000	0.21413	0.937000	0.47636	0.5223:0.3365:0.0:0.1413	4.952	0.13368	634	0.64659	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0625	34.19	2	chr15	63600770	.	C	A	34.19	.	AC=2;AF=0.063;AN=32;DP=67;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=0.2156;MLEAC=2;MLEAF=0.063;MQ=60.00;QD=17.09;SOR=0.693	GT:AD:DP:GQ:PL	1/1:0,2:2:6:49,6,0	15	1	0	5
chr15	63929567	63929567	C	T	exonic	DAPK2	.	nonsynonymous SNV	DAPK2:NM_001363730:exon7:c.G643A:p.V215I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.995	D	0.953	D	0.000	D	1.000	D	1.575	L	0.88	T	-0.785	T	0.174	T	0.757	5.405	34	5.92	2.810	7.534	19.309	0.280	0.0286726368294	0.0002	0.00119808	0.0007	0.0002	8.652e-05	0.0094	0	5.998e-05	0	6.068e-05	0.0006404	99	154602	rs140850258	0.0003	0.0003	0.0003	0.0003	0.0073	0.0003	0.0003	0.0066	0.0064	0.0002	6.708e-05	0.0003	0.0073	0	0	8.453e-05	0.0003	6.956e-05	0.0005	0.0005	0.0004	0.0006	0.0093	0.0004	0.0004	0.0072	0.0064	0.0003	0	0	0.0012	0.0093	0	0	0.0001	0	0	0.0	0.91255	D	0.007	0.69154	D	0.995	0.67487	D	0.953	0.69275	D	0.000004	0.62929	D	0.000000	1	0.81001	D	1.1	0.28011	L	0.88	0.46028	T	-1.0	0.26422	N	0.83	0.82559	-0.7847	0.56036	T	0.174	0.51737	T	10	0.011918396	0.00258	T	0.028673	0.51317	D	0.280	0.59740	.	.	0.493695379898	0.49004	0.6007129595046482	0.60002	0.505623639084	0.48794	0.792087852955	0.80760	T	0.062097	0.31827	T	-0.242357	0.15051	T	-0.109229	0.62672	T	0.125211578961115	0.14932	T	0.959004	0.84537	D	0.50988054	0.67672	0.51154745	0.71774	0.50988054	0.67673	0.51154745	0.71774	-10.544	0.77100	D	.	.	0.224	0.48561	B	.;.;.;.	.;.;.;.	6.014732	0.94345	34	0.9988251627436312	0.95813	0.99661	0.98441	D	AEFBI	0.908136	0.86306	D	0.802635460594485	0.86270	8.831894	0.822772251899351	0.91329	10.83244	1.0	0.98316	0.549168	0.22868	0	0.588066	0.40923	0	0.49644	0.08281	0	0.616125	0.45549	0	.	.	5.92	5.92	0.95557	7.695000	0.83490	7.667000	0.64568	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:1.0:0.0:0.0	19.309	0.94167	113	0.95418	Protein kinase domain|Protein kinase domain|Protein kinase domain;Protein kinase domain|Protein kinase domain|Protein kinase domain;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1170.98	34	chr15	63929567	.	C	T	1170.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.24;DP=840;ExcessHet=0.0000;FS=1.420;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.08;ReadPosRankSum=-6.290e-01;SOR=0.842	GT:AD:DP:GQ:PL	0/1:78,51:129:99:1185,0,1778	20	0	1	0
chr15	74070929	74070929	G	-	exonic	GOLGA6A	.	frameshift deletion	GOLGA6A:NM_001038640:exon18:c.2063delC:p.P688Lfs*30,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.848e-07	4.788e-06	0	1.377e-06	2.52e-05	0	0	.	.	0	0	0	2.52e-05	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	700.94	39	chr15	74070928	.	AG	A	700.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-8.500e-01;DP=1031;ExcessHet=0.0000;FS=2.780;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=47.11;MQRankSum=0.468;QD=5.84;ReadPosRankSum=-5.920e-01;SOR=0.993	GT:AD:DP:GQ:PL	0/1:91,29:120:99:715,0,3016	20	0	1	0
chr15	75689603	75689603	C	T	exonic	CSPG4	.	nonsynonymous SNV	CSPG4:NM_001897:exon3:c.G1462A:p.A488T,	.	.	429	1079	14	0	0	14	0.00644567	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.64	T	0.615	P	0.159	B	0.000	D	0.983	D	1.555	L	2.13	T	-1.091	T	0.042	T	0.417	0.690	7.683	5.12	2.375	3.620	13.061	0.174	.	.	0.00599042	0.0243	0.0096	0.0137	0.0200	0.0142	0.0332	0.0183	0.0128	0.0012679	33	26028	rs72732868	0.0008	0.0079	0.0008	0.0008	0.0082	0.0007	0.0007	0.0074	0.0072	0.0002	0.0003	0.0006	0.0082	0.0002	0.0009	0.0006	0.0006	0.0003	0.0007	0.0031	0.0006	0.0009	0.0111	0.0006	0.0006	0.0088	0.0080	0.0001	0	0.0004	0.0003	0.0111	0.0002	0	0.0005	0.0010	0.0008	0.194	0.20835	T	0.012	0.63918	D	0.615	0.39791	P	0.159	0.34693	B	0.000419	0.44736	D	0.093684	0.983141	0.39978	D	1.79	0.46772	L	2.13	0.19588	T	-0.83	0.22727	N	0.179	0.19325	-1.0915	0.05286	T	0.042	0.17910	T	10	0.0058493316	0.00131	T	.	.	.	0.174	0.44019	.	.	.	.	0.42678734187444106	0.42595	0.626776388847	0.56798	0.354917347431	0.18644	T	0.075735	0.35250	T	-0.143714	0.29299	T	-0.444211	0.28337	T	0.013029156001717	0.00227	T	0.729327	0.34443	T	0.08869844	0.20700	0.09523169	0.22578	0.08869844	0.20700	0.09523169	0.22577	-3.743	0.19955	T	.	.	0.206	0.43227	B	.	.	2.280329	0.29155	18.03	0.98388572036927513	0.40936	0.78470	0.38718	D	AEFBI	0.133191	0.25277	N	-0.0988076745998395	0.37445	2.178575	-0.056196607839385	0.37223	2.17657	0.997347920073087	0.35520	0.646311	0.45356	0	0.588066	0.40923	0	0.645312	0.48771	0	0.530356	0.10902	0	.	.	5.12	5.12	0.69459	3.093000	0.49912	2.681000	0.34017	0.524000	0.24156	0.985000	0.35982	0.992000	0.31684	0.005000	0.06747	0.1615:0.8385:0.0:0.0	13.061	0.58419	162	0.93704	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.119	1383.43	40	chr15	75689603	.	C	T	1383.43	.	AC=5;AF=0.119;AN=42;BaseQRankSum=-1.220e-01;DP=1187;ExcessHet=1.1607;FS=11.205;InbreedingCoeff=-0.1337;MLEAC=5;MLEAF=0.119;MQ=58.37;MQRankSum=-8.802e+00;QD=2.81;ReadPosRankSum=-2.432e+00;SOR=1.880	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:99,29:128:99:0|1:75689603_C_T:908,0,4039:75689603	16	0	5	0
chr15	77470925	77470925	G	C	exonic	HMG20A	.	nonsynonymous SNV	HMG20A:NM_001304504:exon5:c.G466C:p.A156P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	1.0	D	0.999	D	0.000	D	1.000	D	4.01	H	-3.87	D	1.083	D	0.959	D	0.978	5.239	33	5.88	2.780	9.476	20.219	0.926	0.36457501465	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0017	0.0063	0.0018	0.0016	0.0020	0.0016	0.0016	0.0019	0.0019	0.0015	7.544e-05	0.0004	0.0003	1.886e-05	0.0013	0.0020	0.0012	0.0005	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	1	0.81001	D	4.49	0.98946	H	-3.87	0.95922	D	-4.76	0.80340	D	0.951	0.95956	1.083	0.98998	D	0.959	0.98660	D	10	0.8971046	0.90150	D	0.364575	0.92596	D	0.926	0.98192	0.642	0.77903	0.968703745723	0.96836	0.8872671032323289	0.88695	1.50727079688	0.87154	0.880620002747	0.94044	D	0.900783	0.98052	D	0.576488	0.96944	D	0.590309	0.96894	D	0.999476850032806	0.97549	D	0.962604	0.86052	D	0.9461271	0.95872	0.9591841	0.98928	0.9461271	0.95872	0.9591841	0.98928	-15.627	0.97148	D	.	.	1.000	0.99585	P	.;.;.;.	.;.;.;.	6.308495	0.94988	34	0.99786623120083784	0.87308	0.99689	0.98687	D	AEFGBI	0.951203	0.96554	D	1.13537706431312	0.98738	19.20727	1.06046795470621	0.99493	23.16804	0.9999999999968	0.74766	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.88	5.88	0.94564	9.602000	0.97623	11.852000	0.98107	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:1.0:0.0	20.219	0.98314	0	0.99858	High mobility group box domain|High mobility group box domain|High mobility group box domain;High mobility group box domain|High mobility group box domain|High mobility group box domain;High mobility group box domain|High mobility group box domain|High mobility group box domain;High mobility group box domain|High mobility group box domain|High mobility group box domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.09524	176.52	30	chr15	77470925	.	G	C	176.52	.	AC=4;AF=0.095;AN=42;BaseQRankSum=-2.775e+00;DP=955;ExcessHet=0.6776;FS=359.107;InbreedingCoeff=-0.1149;MLEAC=4;MLEAF=0.095;MQ=60.00;MQRankSum=0.00;QD=0.80;ReadPosRankSum=0.794;SOR=10.021	GT:AD:DP:GQ:PL	0/1:43,19:62:32:32,0,888	17	0	4	0
chr15	83008519	83008519	-	A	exonic	C15orf40	.	frameshift insertion	C15orf40:NM_001160113:exon3:c.394dupT:p.L132Ffs*69,	.	.	452	773	160	3	134	300	0.0969626	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3095	4025.8	36	chr15	83008518	.	CA	C,CAA	4025.8	.	AC=5,8;AF=0.119,0.190;AN=42;BaseQRankSum=-3.980e-01;DP=1512;ExcessHet=11.8493;FS=0.573;InbreedingCoeff=-0.4535;MLEAC=5,8;MLEAF=0.119,0.190;MQ=59.99;MQRankSum=0.00;QD=4.26;ReadPosRankSum=0.964;SOR=0.734	GT:AD:DP:GQ:PL	0/1:71,15,7:93:99:116,0,1678,214,1464,1928	8	0	5	0
chr15	84512452	84512452	C	0	exonic	GOLGA6L4	.	.	.	.	.	671	744	60	0	47	107	0.0387597	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3095	4524.06	139	chr15	84512452	.	C	T,*	4524.06	.	AC=5,8;AF=0.119,0.190;AN=42;BaseQRankSum=-4.670e-01;DP=3555;ExcessHet=11.8493;FS=1.281;InbreedingCoeff=-0.4584;MLEAC=5,8;MLEAF=0.119,0.190;MQ=45.57;MQRankSum=1.25;QD=1.92;ReadPosRankSum=0.576;SOR=0.796	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:156,0,40:210:99:.:.:920,1394,8171,0,5842,7074	8	0	5	0
chr15	85580602	85580602	T	G	exonic	AKAP13	.	nonsynonymous SNV	AKAP13:NM_006738:exon7:c.T2534G:p.V845G	.	.	432	110	446	510	24	1490	0.869514	.	.	2814437	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.45	T	0.0	B	0.002	B	.	.	1.000	P	0.345	N	2.55	T	-0.957	T	0.017	T	0.404	1.720	11.71	0.070	-0.113	-1.248	6.569	0.179	0.00506693407359	.	0.000599042	0.0032	0.0007	0.0032	0	0.0002	0.0039	0.0088	0.0048	0.0001153	3	26028	rs4075256	0.0025	0.0025	0.0024	0.0027	0.0151	0.0025	0.0024	0.0125	0.0116	0.0004	0.0025	0.0292	2.519e-05	0.0001	0.0151	0.0018	0.0045	0.0047	0.0023	0.0023	0.0022	0.0024	0.0048	0.0021	0.0020	0.0033	0.0028	0.0003	0	0.0016	0.0297	0	9.45e-05	0.0171	0.0025	0.0038	0.0048	0.423	0.10659	T	0.027	0.63918	D	0.0	0.02946	B	0.001	0.06944	B	.	.	.	.	1	0.08975	P	1.245	0.31408	L	2.55	0.13795	T	-1.02	0.26843	N	0.078	0.06720	-0.9574	0.39662	T	0.017	0.06998	T	8	0.0039428473	0.00076	T	0.005067	0.12846	T	0.179	0.44899	.	.	0.422182357427	0.41838	0.1432355315383818	0.14246	0.0440664064185	0.04745	0.228416800499	0.01853	T	0.010925	0.27888	T	-0.552168	0.00283	T	-0.564974	0.15912	T	0.00203509816072437	0.00021	T	0.324768	0.06643	T	0.1311308	0.30576	0.06462619	0.12981	0.1311308	0.30576	0.06462619	0.12981	-3.647	0.18539	T	.	.	0.065	0.06069	B	.;.;.	.;.;.	0.426331	0.07970	4.681	0.95987591324156307	0.28377	0.04720	0.10414	N	AEFDBHCI	.	.	.	-1.3770577569871	0.02854	0.1266311	-1.35682337870166	0.03726	0.1743996	0.999998904741782	0.74766	0.722319	0.85440	0	0.698795	0.70079	0	0.65145	0.50148	0	0.678554	0.66404	0	.	.	5.68	0.070	0.13688	-1.139000	0.03324	-0.569000	0.08436	-0.832000	0.02862	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.4775:0.1299:0.3926	6.569	0.21723	714	0.56256	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.7619	59865.85	115	chr15	85580602	.	T	C,G	59865.85	.	AC=32,1;AF=0.762,0.024;AN=42;BaseQRankSum=1.83;DP=2553;ExcessHet=4.7172;FS=0.631;InbreedingCoeff=-0.2727;MLEAC=32,1;MLEAF=0.762,0.024;MQ=60.00;MQRankSum=0.00;QD=23.83;ReadPosRankSum=0.419;SOR=0.578	GT:AD:DP:GQ:PL	0/1:73,73,0:146:99:1816,0,1970,2036,2188,4224	0	11	9	0
chr15	86262867	86262867	G	A	exonic	AGBL1	.	nonsynonymous SNV	AGBL1:NM_152336:exon10:c.G1059A:p.M353I,	Corneal dystrophy, Fuchs endothelial, 8, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	T	0.617	P	0.242	B	0.000	D	0.642	N	2.135	M	2.92	T	-0.748	T	0.127	T	0.34	1.463	10.84	5.5	2.578	2.277	13.378	0.096	0.0201173805675	.	.	.	.	.	.	.	.	.	.	.	.	.	rs866857305	6.876e-07	2.053e-06	1.367e-06	0	2.999e-05	0	0	.	.	2.999e-05	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.483	0.36807	P	0.057	0.26280	B	0.000431	0.44522	D	0.244651	0.641972	0.30608	N	2.34	0.67151	M	.	.	.	.	.	.	.	.	-0.7477	0.58055	T	0.127	0.43462	T	10	0.3451473	0.51494	T	0.020117	0.42647	T	0.096	0.27654	0.336	0.32491	0.345859378078	0.34197	0.1783097779329804	0.17749	0.010741408872	0.00990	0.362168550491	0.19702	T	0.029575	0.21161	T	-0.135658	0.30584	T	-0.43264	0.29636	T	0.74590927362442	0.43058	D	0.844715	0.52235	T	0.30360717	0.53226	0.42711985	0.66467	0.30360717	0.53227	0.42711985	0.66467	.	.	.	.	.	0.54	0.74232	A	.;.	.;.	2.826069	0.37245	20.4	0.99212663506296006	0.55655	0.91102	0.52864	D	AEFI	0.434504	0.49552	N	0.112744732671943	0.47055	2.936776	0.169067475961984	0.48160	3.035824	0.728346301735861	0.23014	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.5	5.5	0.81386	2.324000	0.43491	6.634000	0.56161	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.053000	0.15439	0.0:0.0:0.8429:0.1571	13.378	0.60194	509	0.75304	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.09524	224.91	90	chr15	86262867	.	G	A	224.91	.	AC=4;AF=0.095;AN=42;BaseQRankSum=-3.793e+00;DP=1376;ExcessHet=0.6776;FS=121.756;InbreedingCoeff=-0.1052;MLEAC=4;MLEAF=0.095;MQ=60.00;MQRankSum=0.00;QD=0.46;ReadPosRankSum=0.486;SOR=9.308	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:117,22:139:49:.:.:49,0,2438	17	0	4	0
chr15	89630403	89630403	G	A	exonic	KIF7	.	nonsynonymous SNV	KIF7:NM_198525:exon16:c.C3202T:p.R1068W,	Acrocallosal syndrome, Autosomal recessive;Joubert syndrome 12, Autosomal recessive	.	0	1513	9	0	0	9	0.0029654	.	.	529144	Acrocallosal_syndrome|not_provided|KIF7-related_disorder	MONDO:MONDO:0008708,MedGen:C0796147,OMIM:200990,Orphanet:36|MedGen:C3661900|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.01	D	1.0	D	0.999	D	0.000	D	1.000	D	1.87	L	-0.61	T	-0.013	T	0.479	T	0.685	3.880	19.72	4.3	1.143	3.934	14.993	0.525	0.292663992437	0.0002	0.000199681	0.0006	0	0.0003	0.0002	0	0.0007	0	0.0011	0.0003816	59	154602	rs147191956	0.0003	0.0003	0.0003	0.0004	0.0019	0.0003	0.0003	0.0011	0.0008	0.0001	0.0002	0.0042	0.0004	0	0.0019	0.0002	0.0005	0.0010	0.0003	0.0003	0.0002	0.0003	0.0010	0.0002	0.0002	0.0004	0.0003	4.811e-05	0	0.0001	0.0043	0.0008	0	0	0.0002	0.0005	0.0010	0.002	0.72154	D	0.013	0.63109	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	0.999999	0.58761	D	2.075	0.57047	M	-0.61	0.71779	T	-5.15	0.83357	D	0.742	0.74189	-0.0131	0.81983	T	0.479	0.80088	T	10	0.1428135	0.27121	T	0.292664	0.90617	D	0.525	0.79886	.	.	0.866923494761	0.86563	0.5059080629764829	0.50512	0.151484618401	0.17099	0.853851675987	0.90195	D	0.672501	0.90295	D	-0.133355	0.30954	T	-0.0249299	0.68704	D	0.155639581505526	0.17544	T	0.966303	0.87634	D	0.6552322	0.75643	0.5584526	0.74456	0.6552322	0.75645	0.5584526	0.74457	-13.61	0.91720	D	0.6325771152031752	0.70218	0.565	0.67424	P	.	.	4.851734	0.79312	27.1	0.99920121380343407	0.98721	0.92257	0.55297	D	AEFDBCI	0.705839	0.66109	D	0.526083407036831	0.68639	5.244721	0.486839522293622	0.67115	5.041284	0.999012517554487	0.38212	0.67177	0.52595	0	0.577304	0.33150	0	0.702456	0.68683	0	0.636168	0.56350	0	.	.	5.24	4.3	0.50540	3.981000	0.56611	5.681000	0.49295	0.672000	0.70159	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:0.8563:0.1437	14.993	0.71063	846	0.36215	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	845.98	40	chr15	89630403	.	G	A	845.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.617;DP=792;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.84;ReadPosRankSum=0.968;SOR=0.701	GT:AD:DP:GQ:PL	0/1:50,36:86:99:860,0,1238	20	0	1	0
chr15	89776903	89776915	AGGGCAGGGGCAG	0	exonic	MESP2	.	.	.	Spondylocostal dysostosis 2, autosomal recessive	.	68	42	561	596	255	2008	0.954273	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6667	31349.59	49	chr15	89776903	.	AGGGCAGGGGCAG	*,A	31349.59	.	AC=14,28;AF=0.333,0.667;AN=42;BaseQRankSum=0.794;DP=1383;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=NaN;MLEAC=14,28;MLEAF=0.333,0.667;MQ=60.00;MQRankSum=0.00;QD=27.92;ReadPosRankSum=0.595;SOR=0.828	GT:AD:DP:GQ:PGT:PID:PL:PS	1|2:0,16,27:43:99:1|0:89776889_GAGGGGCAGGGGCAAGGGCAGGGGC_G:1766,1057,1035,650,0,556:89776889	0	0	0	0
chr15	89803917	89803917	G	C	exonic	ANPEP	.	nonsynonymous SNV	ANPEP:NM_001381924:exon6:c.C1265G:p.A422G	.	.	427	1083	12	0	0	12	0.00550964	.	.	726340	not_provided|ANPEP-related_disorder	MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0	D	0.996	D	0.969	D	0.000	D	0.999	D	2.615	M	4.15	T	-1.191	T	0.034	T	0.499	3.953	20.2	3.65	0.915	4.122	10.405	0.206	0.0259706140442	0.0015	0.00179712	0.0020	0.0005	0.0019	0	0.0021	0.0022	0.0022	0.0033	0.0019146	296	154602	rs144282919	0.0020	0.0020	0.0019	0.0021	0.0034	0.0019	0.0019	0.0031	0.0030	0.0003	0.0021	0.0003	2.519e-05	0.0026	0.0031	0.0020	0.0017	0.0034	0.0018	0.0018	0.0017	0.0018	0.0041	0.0016	0.0015	0.0027	0.0023	0.0007	0	0.0020	0	0	0.0019	0.0068	0.0024	0.0028	0.0041	0.016	0.51853	D	0.003	0.76473	D	0.996	0.68779	D	0.969	0.72001	D	0.000000	0.84330	D	0.000000	0.998813	0.45492	D	2.31	0.66127	M	4.15	0.02815	T	-3.41	0.67129	D	0.708	0.71143	-1.1912	0.00229	T	0.034	0.14596	T	10	0.027962267	0.00934	T	0.025971	0.48910	D	0.206	0.49396	.	.	0.5353919603	0.53189	0.5511601366670511	0.55042	0.826528018319	0.67431	0.403196841478	0.25514	T	0.298852	0.67140	T	-0.409085	0.02016	T	-0.362504	0.37763	T	0.0143330079449275	0.00286	T	0.865813	0.56549	D	0.8962787	0.91052	0.71628726	0.83254	0.8962787	0.91054	0.71628726	0.83255	-10.542	0.77088	D	.	.	0.223	0.45384	B	.	.	4.560386	0.71854	25.7	0.99685103855634227	0.79507	0.96040	0.67261	D	AEFDBCI	0.799146	0.72549	D	0.50535029227732	0.67405	5.077351	0.415320321123462	0.62519	4.468608	0.99999990718495	0.74766	0.722319	0.85440	0	0.573888	0.26702	0	0.645312	0.48771	0	0.735409	0.98432	0	.	.	4.58	3.65	0.40985	4.272000	0.58705	5.077000	0.47232	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.962000	0.52141	0.0982:0.0:0.9018:0.0	10.405	0.43434	451	0.79296	Peptidase M1, membrane alanine aminopeptidase, N-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.04762	3455.11	38	chr15	89803917	.	G	C	3455.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-9.980e-01;DP=982;ExcessHet=0.1072;FS=0.000;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=13.99;ReadPosRankSum=-3.230e-01;SOR=0.679	GT:AD:DP:GQ:PL	0/1:59,64:123:99:1791,0,1631	19	0	2	0
chr15	89805203	89805203	G	T	exonic	ANPEP	.	nonsynonymous SNV	ANPEP:NM_001381924:exon3:c.C772A:p.L258I	.	.	414	1096	12	0	0	12	0.00544465	.	.	726341	not_provided|ANPEP-related_disorder	MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.47	T	0.005	B	0.016	B	0.000	N	1.000	N	0.295	N	4.24	T	-0.936	T	0.006	T	0.134	0.545	6.950	-3.78	-0.501	-2.741	2.453	0.021	0.00366820839329	0.0015	0.00159744	0.0019	0.0005	0.0017	0	0.0021	0.0021	0.0022	0.0031	0.0018305	283	154602	rs146926671	0.0019	0.0019	0.0018	0.0021	0.0034	0.0019	0.0019	0.0031	0.0030	0.0003	0.0017	0.0003	2.519e-05	0.0026	0.0031	0.0020	0.0017	0.0034	0.0018	0.0018	0.0017	0.0018	0.0048	0.0016	0.0015	0.0033	0.0028	0.0007	0	0.0016	0	0	0.0019	0.0068	0.0024	0.0028	0.0048	0.436	0.09374	T	0.497	0.11299	T	0.005	0.12996	B	0.016	0.17743	B	0.000000	0.00162	N	15.991200	1	0.08975	N	0.475	0.13142	N	4.24	0.02590	T	-0.02	0.07299	N	0.214	0.23884	-0.9357	0.43288	T	0.006	0.01944	T	10	0.0043984354	0.00089	T	0.003668	0.08464	T	0.021	0.04004	.	.	0.252681307341	0.24864	0.42566844532429726	0.42483	0.274924138337	0.29976	0.269383579493	0.06060	T	0.127907	0.45523	T	-0.66847	0.00056	T	-0.735093	0.04100	T	0.00379468395581677	0.00040	T	0.669833	0.27843	T	0.16779764	0.37198	0.03854443	0.03748	0.16779764	0.37198	0.03854443	0.03747	-3.983	0.23548	T	.	.	0.09	0.12607	B	.	.	-2.217674	0.00061	0.001	0.80936852884495825	0.13440	0.13072	0.17647	N	AEFGBCI	0.211760	0.33752	N	-1.34560822965062	0.03171	0.1411956	-1.40565723452777	0.03195	0.1485408	0.999439436612652	0.39683	0.67177	0.52595	0	0.573888	0.26702	0	0.645312	0.48771	0	0.711	0.71501	0	.	.	4.42	-3.78	0.04049	-3.933000	0.00373	-13.273000	0.00469	0.676000	0.76740	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.41:0.1158:0.3576:0.1166	2.453	0.04248	448	0.79501	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	3360.11	33	chr15	89805203	.	G	T	3360.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-1.546e+00;DP=943;ExcessHet=0.1072;FS=0.944;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=12.63;ReadPosRankSum=2.00;SOR=0.614	GT:AD:DP:GQ:PL	0/1:71,63:134:99:1630,0,2042	19	0	2	0
chr15	90931281	90931281	-	GTC	exonic	HDDC3	.	nonframeshift insertion	HDDC3:NM_001286451:exon4:c.533_534insGAC:p.T178_I179insT,	.	.	434	1074	14	0	0	14	0.00647549	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00279553	0.0087	0.0009	0.0091	0	0.0036	0.0009	0.0096	0.0172	0.0003842	10	26028	rs554761360	0.0028	0.0027	0.0023	0.0033	0.0175	0.0027	0.0027	0.0167	0.0164	0.0002	0.0012	0	2.798e-05	0.0034	0.0046	0.0020	0.0028	0.0175	0.0022	0.0022	0.0018	0.0027	0.0191	0.0020	0.0020	0.0159	0.0147	0.0004	0	0.0014	0	0	0.0039	0	0.0024	0.0038	0.0191	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2625.94	33	chr15	90931281	.	T	TGTC	2625.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.47;DP=965;ExcessHet=0.0000;FS=3.595;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.09;ReadPosRankSum=0.564;SOR=0.449	GT:AD:DP:GQ:PL	0/1:103,71:174:99:2640,0,4042	20	0	1	0
chr15	99131220	99131220	G	A	exonic	SYNM	.	nonsynonymous SNV	SYNM:NM_015286:exon4:c.G2860A:p.G954R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	0.998	D	0.753	P	.	.	0.987	D	.	.	-1.76	D	0.344	D	0.642	D	0.761	4.638	25.4	5.64	2.653	8.724	18.706	0.498	0.127472084466	.	.	1.15e-05	0	0	0	0	2.049e-05	0	0	1.29e-05	2	154602	rs782242404	1.03e-05	1.094e-05	1.092e-05	9.668e-06	1.352e-05	6.18e-06	4.9e-06	8.11e-06	6.43e-06	0	0	0	0	0	0	1.352e-05	0	0	3.945e-05	3.94e-05	3.856e-05	4.037e-05	0.0001	1.716e-05	1.13e-05	4.742e-05	3.056e-05	0.0001	0	0	0	0	9.422e-05	0	0	0	0	0.075	0.34444	T	0.112	0.39954	T	.	.	.	.	.	.	.	.	.	.	0.986658	0.40465	D	.	.	.	-0.64	0.83737	T	-1.77	0.41809	N	0.361	0.48689	0.344	0.88242	D	0.642	0.87493	D	8	0.38764554	0.54659	T	0.127472	0.80928	D	0.498	0.78226	0.307	0.27806	0.820040435201	0.81834	0.4007697264629128	0.39991	0.701317164615	0.61143	0.352596610785	0.18303	T	0.055162	0.29929	T	0.11618	0.65986	D	0.11438	0.77862	D	0.785590529441833	0.45403	D	0.867913	0.56927	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.221	0.46073	B	.;.;.	.;.;.	5.117928	0.85593	28.6	0.99929947170949485	0.99334	0.96259	0.68271	D	AEFDBCI	0.921099	0.89404	D	0.722671165131149	0.81118	7.448115	0.750750052318028	0.86211	8.817966	0.999999999999953	0.74766	0.653281	0.48532	0	0.588066	0.40923	0	0.658983	0.55881	0	0.669	0.65921	0	.	.	5.64	5.64	0.86480	8.918000	0.92345	9.856000	0.82023	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.955000	0.50612	0.0:0.0:1.0:0.0	18.706	0.91599	981	0.03995	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1469.98	109	chr15	99131220	.	G	A	1469.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.00;DP=2098;ExcessHet=0.0000;FS=2.312;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.95;ReadPosRankSum=0.837;SOR=0.839	GT:AD:DP:GQ:PL	0/1:68,55:123:99:1484,0,1687	20	0	1	0
chr15	99712514	99712519	CAGCAG	-	exonic	MEF2A	.	nonframeshift deletion	MEF2A:NM_001130928:exon8:c.1033_1038del:p.Q351_Q352del	.	.	0	60	66	37	63	203	0.538462	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.381	25897.93	76	chr15	99712504	.	CCAGCAGCAGCAGCAG	CCAGCAGCAG,C,CCAGCAGCAGCAG	25897.93	.	AC=12,1,3;AF=0.286,0.024,0.071;AN=42;BaseQRankSum=-6.810e-01;DP=1837;ExcessHet=1.5101;FS=3.269;InbreedingCoeff=-0.0096;MLEAC=12,1,3;MLEAF=0.286,0.024,0.071;MQ=60.00;MQRankSum=0.00;QD=22.78;ReadPosRankSum=0.134;SOR=0.795	GT:AD:DP:GQ:PL	0/2:58,0,44,2:104:99:1629,1839,4333,0,2566,2701,1720,3980,2161,3900	8	2	8	0
chr15	99712505	99712519	CAGCAGCAGCAGCAG	-	exonic	MEF2A	.	nonframeshift deletion	MEF2A:NM_001130928:exon8:c.1024_1038del:p.Q348_Q352del	.	.	0	60	66	37	63	203	0.538462	.	.	3207195	MEF2A-related_disorder	.	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0051	.	0.0163	0.0020	0.0084	0	0.0006	0.0040	0.0093	0.0378	0.0001537	4	26028	rs748617871	0.0057	0.0054	0.0048	0.0066	0.0328	0.0056	0.0056	0.0318	0.0313	0.0011	0.0209	0.0009	0.0019	0.0015	0.0269	0.0036	0.0059	0.0328	0.0056	0.0056	0.0050	0.0061	0.0227	0.0052	0.0051	0.0192	0.0179	0.0014	0	0.0195	0.0003	0.0010	0.0019	0.0510	0.0048	0.0072	0.0227	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.381	25897.93	76	chr15	99712504	.	CCAGCAGCAGCAGCAG	CCAGCAGCAG,C,CCAGCAGCAGCAG	25897.93	.	AC=12,1,3;AF=0.286,0.024,0.071;AN=42;BaseQRankSum=-6.810e-01;DP=1837;ExcessHet=1.5101;FS=3.269;InbreedingCoeff=-0.0096;MLEAC=12,1,3;MLEAF=0.286,0.024,0.071;MQ=60.00;MQRankSum=0.00;QD=22.78;ReadPosRankSum=0.134;SOR=0.795	GT:AD:DP:GQ:PL	0/2:58,0,44,2:104:99:1629,1839,4333,0,2566,2701,1720,3980,2161,3900	8	2	8	0
chr15	99712517	99712519	CAG	-	exonic	MEF2A	.	nonframeshift deletion	MEF2A:NM_001130928:exon8:c.1036_1038del:p.Q352del	.	.	0	60	66	37	63	203	0.538462	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.381	25897.93	76	chr15	99712504	.	CCAGCAGCAGCAGCAG	CCAGCAGCAG,C,CCAGCAGCAGCAG	25897.93	.	AC=12,1,3;AF=0.286,0.024,0.071;AN=42;BaseQRankSum=-6.810e-01;DP=1837;ExcessHet=1.5101;FS=3.269;InbreedingCoeff=-0.0096;MLEAC=12,1,3;MLEAF=0.286,0.024,0.071;MQ=60.00;MQRankSum=0.00;QD=22.78;ReadPosRankSum=0.134;SOR=0.795	GT:AD:DP:GQ:PL	0/2:58,0,44,2:104:99:1629,1839,4333,0,2566,2701,1720,3980,2161,3900	8	2	8	0
chr15	99997468	99997468	A	C	exonic	ADAMTS17	.	nonsynonymous SNV	ADAMTS17:NM_139057:exon19:c.T2713G:p.C905G,	Weill-Marchesani-like syndrome, Autosomal recessive	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	D	0.999	D	0.997	D	0.000	D	1.000	D	4.45	H	-0.69	T	0.740	D	0.708	D	0.887	3.348	17.27	5.06	1.885	8.313	14.790	0.821	0.256385721283	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.041	0.50514	D	0.999	0.77913	D	0.997	0.86255	D	0.000000	0.84330	D	0.000000	1	0.81001	D	4.17	0.97676	H	-0.69	0.72678	T	-9.13	0.98199	D	0.872	0.86941	0.740	0.93670	D	0.708	0.89973	D	10	0.98335457	0.98468	D	0.256386	0.89328	D	0.821	0.94276	0.862	0.95885	0.968495154321	0.96816	0.7650599550904532	0.76454	0.546196756565	0.51621	0.657229423523	0.61014	T	0.405866	0.76192	T	0.375894	0.88444	D	0.302169	0.88297	D	0.999855518341064	0.99363	D	0.842116	0.51841	T	0.93847024	0.95092	0.9212139	0.96484	0.93847024	0.95092	0.9212139	0.96484	-12.014	0.84920	D	.	.	0.968	0.89183	P	.	.	4.786617	0.77637	26.7	0.98225299100927854	0.39343	0.93837	0.59334	D	AEFDBCI	0.953208	0.96931	D	0.898897908610126	0.91705	11.02127	0.74569077765056	0.85833	8.700672	0.999998713414151	0.74766	0.553676	0.25195	0	0.588015	0.36545	0	0.608075	0.38828	0	0.620846	0.47308	0	.	.	5.06	5.06	0.67838	8.313000	0.89896	11.160000	0.87621	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.851000	0.40252	1.0:0.0:0.0:0.0	14.790	0.69455	944	0.12746	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.02381	2051.98	36	chr15	99997468	.	A	C	2051.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.115e+00;DP=840;ExcessHet=0.0000;FS=1.387;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.87;ReadPosRankSum=-1.202e+00;SOR=0.849	GT:AD:DP:GQ:PL	0/1:53,85:138:99:2066,0,1281	20	0	1	0
chr16	176927	176927	A	G	splicing	HBA1	NM_000558:exon2:c.96-2A>G	.	.	Erythremias, alpha- (3);Heinz body anemias, alpha-, Autosomal dominant;Hemoglobin H disease, nondeletional;Methemoglobinemias, alpha- (3);Thalassemias, alpha-	YES	.	.	.	.	.	.	.	0.9999	0.894	3081354	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Pathogenic	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.000	D	.	.	.	.	.	.	.	.	.	1.925	12.40	3.33	0.636	6.527	9.342	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1298836193	5.545e-06	1.541e-05	4.555e-06	6.484e-06	0.0003	1.62e-06	1.18e-06	1.48e-06	1e-06	0	0	0	0	0	0.0003	6.317e-06	0	0	1.356e-05	2.643e-05	0	2.786e-05	2.532e-05	2.25e-06	8.4e-07	.	.	2.532e-05	0	0	0	0	0	0	1.494e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.0205757	0.48770	T	-0.267332	0.48089	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.081505	0.94516	34	0.74603171795610534	0.10757	0.96569	0.69797	D	AEFDGBHCI	.	.	.	0.706611257523252	0.80067	7.212597	0.440658059572336	0.64120	4.659919	0.999999812694705	0.74766	0.080785	0.02172	0	0.096583	0.02683	0	0.056003	0.00319	0	0.058706	0.01089	0	0.804152	0.47649	4.45	3.33	0.37245	6.424000	0.73282	7.903000	0.73657	0.663000	0.56723	1.000000	0.71638	1.000000	0.68203	0.629000	0.32131	0.8191:0.1809:0.0:0.0	9.342	0.37247	809	0.43032	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	468.98	41	chr16	176927	.	A	G	468.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.084e+00;DP=565;ExcessHet=0.0000;FS=6.514;InbreedingCoeff=-0.0248;MLEAC=1;MLEAF=0.024;MQ=30.85;MQRankSum=1.50;QD=10.91;ReadPosRankSum=-1.493e+00;SOR=1.156	GT:AD:DP:GQ:PL	0/1:24,19:43:99:483,0,660	20	0	1	0
chr16	1397277	1397277	A	0	exonic	UNKL	.	.	.	.	.	28	20	70	25	83	203	0.75	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7188	9454.15	31	chr16	1397277	.	A	*,G	9454.15	.	AC=19,8;AF=0.594,0.250;AN=32;BaseQRankSum=1.91;DP=1633;ExcessHet=0.0731;FS=2.741;InbreedingCoeff=0.3875;MLEAC=24,10;MLEAF=0.750,0.313;MQ=59.56;MQRankSum=-2.830e-01;QD=10.82;ReadPosRankSum=1.63;SOR=0.444	GT:AD:DP:GQ:PGT:PID:PL:PS	2|2:0,0,83:83:99:1|1:1397277_A_G:2969,2969,2969,249,249,0:1397277	1	6	3	5
chr16	1432705	1432707	GAG	-	exonic	PERCC1	.	nonframeshift deletion	PERCC1:NM_001365310:exon2:c.112_114del:p.E47del,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2381	3063.65	15	chr16	1432701	.	AGAGGAG	AGAG,A,AGAGGAGGAG	3063.65	.	AC=9,1,1;AF=0.214,0.024,0.024;AN=42;BaseQRankSum=-1.580e-01;DP=320;ExcessHet=0.4237;FS=0.000;InbreedingCoeff=0.1368;MLEAC=9,1,1;MLEAF=0.214,0.024,0.024;MQ=59.96;MQRankSum=0.00;QD=24.51;ReadPosRankSum=-6.010e-01;SOR=0.734	GT:AD:DP:GQ:PL	1/2:0,12,2,0:14:44:574,81,44,494,0,527,577,83,515,595	12	1	6	0
chr16	1432707	1432707	-	GAG	exonic	PERCC1	.	nonframeshift insertion	PERCC1:NM_001365310:exon2:c.114_115insGAG:p.E47_G48insE,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2381	3063.65	15	chr16	1432701	.	AGAGGAG	AGAG,A,AGAGGAGGAG	3063.65	.	AC=9,1,1;AF=0.214,0.024,0.024;AN=42;BaseQRankSum=-1.580e-01;DP=320;ExcessHet=0.4237;FS=0.000;InbreedingCoeff=0.1368;MLEAC=9,1,1;MLEAF=0.214,0.024,0.024;MQ=59.96;MQRankSum=0.00;QD=24.51;ReadPosRankSum=-6.010e-01;SOR=0.734	GT:AD:DP:GQ:PL	1/2:0,12,2,0:14:44:574,81,44,494,0,527,577,83,515,595	12	1	6	0
chr16	2090293	2090293	C	T	exonic	PKD1	.	nonsynonymous SNV	PKD1:NM_000296:exon45:c.G12433A:p.V4145I	Polycystic kidney disease, adult type I, Autosomal dominant	.	0	1451	67	4	0	75	0.0251931	.	.	255509	Polycystic_kidney_disease,_adult_type|not_provided|Polycystic_kidney_disease|not_specified	MONDO:MONDO:0008263,MedGen:C3149841,OMIM:173900|MedGen:C3661900|Human_Phenotype_Ontology:HP:0000113,Human_Phenotype_Ontology:HP:0004716,Human_Phenotype_Ontology:HP:0004739,Human_Phenotype_Ontology:HP:0004740,Human_Phenotype_Ontology:HP:0008645,Human_Phenotype_Ontology:HP:0008673,Human_Phenotype_Ontology:HP:0008699,MONDO:MONDO:0020642,MeSH:D007690,MedGen:C0022680,OMIM:PS173900|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.17	T	0.987	D	0.879	P	0.075	N	0.965	N	2.14	M	1.31	T	-0.910	T	0.144	T	0.091	3.922	19.95	4.02	2.050	2.055	16.309	0.072	0.0451531310905	0.0032	0.00339457	0.0048	0.0005	0.0035	0.0001	0.0056	0.0053	0.0080	0.0088	0.0044049	681	154602	rs148478410	0.0038	0.0038	0.0036	0.0041	0.0175	0.0038	0.0037	0.0148	0.0137	0.0007	0.0028	0.0022	0	0.0053	0.0175	0.0036	0.0045	0.0083	0.0033	0.0033	0.0037	0.0029	0.0064	0.0031	0.0030	0.0050	0.0048	0.0006	0	0.0016	0.0020	0.0004	0.0022	0	0.0055	0.0066	0.0064	0.163	0.23541	T	0.034	0.52727	D	0.972	0.61912	D	0.633	0.62418	P	0.075110	0.21243	N	0.475314	0.965042	0.25955	N	2.6	0.76081	M	1.31	0.35405	T	-0.76	0.21215	N	0.806	0.80180	-0.9105	0.46793	T	0.144	0.46587	T	10	0.010210127	0.00228	T	0.045153	0.61843	D	0.072	0.21020	.	.	0.783245712702	0.78124	0.2612534345992779	0.26038	.	.	0.55258089304	0.46222	T	0.239847	0.60805	T	-0.541596	0.00328	T	-0.544627	0.17844	T	0.0181758844097079	0.00538	T	0.836316	0.50742	T	0.2944897	0.52406	0.09615326	0.22835	0.29896998	0.52812	0.08810598	0.20521	-5.215	0.39094	T	0.5661712876178673	0.63361	0.221	0.45199	B	.;.	.;.	3.833642	0.55435	23.6	0.99708122681245359	0.81143	0.84668	0.43753	D	AEFDBCI	0.397753	0.47370	N	0.423190931841611	0.62700	4.490252	0.380317644411658	0.60350	4.221811	0.999999840776265	0.74766	0.741868	0.97996	0	0.702456	0.74545	0	0.774882	0.98623	0	0.562822	0.20929	0	.	.	4.02	4.02	0.45968	2.770000	0.47346	7.502000	0.59501	0.465000	0.21702	0.997000	0.40164	1.000000	0.68203	0.994000	0.71098	0.0:1.0:0.0:0.0	16.309	0.82694	774	0.48577	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	6231.68	37	chr16	2090293	.	C	T	6231.68	.	AC=3;AF=0.071;AN=42;BaseQRankSum=-3.880e-01;DP=1579;ExcessHet=0.3300;FS=1.097;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=11.03;ReadPosRankSum=-9.300e-02;SOR=0.771	GT:AD:DP:GQ:PL	0/1:96,59:155:99:1266,0,2485	18	0	3	0
chr16	2110621	2110621	C	T	exonic	PKD1	.	nonsynonymous SNV	PKD1:NM_000296:exon15:c.G4546A:p.A1516T	Polycystic kidney disease, adult type I, Autosomal dominant	.	1	1496	23	2	0	27	0.00894336	.	.	255618	PKD1-related_disorder|Polycystic_kidney_disease,_adult_type|not_provided|not_specified	.|MONDO:MONDO:0008263,MedGen:C3149841,OMIM:173900|MedGen:C3661900|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.84	T	0.083	B	0.022	B	0.123	N	1.000	N	-0.145	N	0.64	T	-1.018	T	0.037	T	0.092	-1.752	0.010	-8.85	-2.511	-1.741	11.277	0.017	0.0659993038222	0.0053	0.00299521	0.0061	0.0012	0.0012	0	0.0081	0.0087	0.0059	0.0046	0.0053945	834	154602	rs148164067	0.0069	0.0069	0.0070	0.0069	0.0080	0.0068	0.0068	0.0073	0.0072	0.0010	0.0012	0.0160	2.52e-05	0.0098	0.0080	0.0074	0.0065	0.0045	0.0050	0.0050	0.0051	0.0049	0.0077	0.0047	0.0046	0.0071	0.0069	0.0013	0	0.0010	0.0153	0	0.0083	0.0068	0.0077	0.0014	0.0041	0.51	0.07497	T	0.508	0.10930	T	0.083	0.24734	B	0.016	0.19653	B	0.123480	0.02747	N	1.724340	1	0.08975	N	-0.105	0.04674	N	0.64	0.52867	T	0.57	0.03463	N	0.155	0.16168	-1.0176	0.24495	T	0.037	0.15856	T	10	0.010074973	0.00226	T	0.065999	0.69747	D	0.017	0.02790	.	.	0.611116408362	0.60798	0.2162103776697939	0.21537	.	.	0.322412252426	0.13786	T	0.13945	0.47348	T	-0.634042	0.00090	T	-0.678688	0.07064	T	0.00426579460975307	0.00045	T	0.285271	0.05070	T	0.021383826	0.00737	0.037577875	0.03441	0.016687732	0.00215	0.036010668	0.02962	-3.478	0.16125	T	0.13576273702676706	0.14786	0.07	0.03479	B	.;.	.;.	-1.641639	0.00220	0.003	0.81336841857660391	0.13635	0.02196	0.06414	N	AEFBI	0.060214	0.11427	N	-1.97069523980725	0.00244	0.01047305	-2.03193924722345	0.00262	0.01155742	0.933205377546563	0.27119	0.67177	0.52595	0	0.702456	0.74545	0	0.723109	0.80598	0	0.635551	0.53088	0	.	.	5.36	-8.85	0.00689	-1.711000	0.01987	-3.441000	0.02784	-2.892000	0.00164	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.0994:0.2454:0.0:0.6552	11.277	0.48409	650	0.62973	PKD domain|PKD domain|PKD/Chitinase domain|Polycystin cation channel;.	.	.	.	.	.	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	0.02381	1998.98	33	chr16	2110621	.	C	T	1998.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.67;DP=1384;ExcessHet=0.0000;FS=1.970;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=56.90;MQRankSum=0.463;QD=12.42;ReadPosRankSum=-1.128e+00;SOR=0.867	GT:AD:DP:GQ:PL	0/1:87,74:161:99:2013,0,2133	20	0	1	0
chr16	2153366	2153366	G	A	exonic	RAB26	.	nonsynonymous SNV	RAB26:NM_014353:exon9:c.G716A:p.R239Q	.	.	423	1096	3	0	0	3	0.00136674	.	.	2754444	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.85	T	0.001	B	0.001	B	0.080	N	0.800	N	-0.87	N	0.1	T	-0.994	T	0.059	T	0.221	-0.134	3.344	-0.414	0.084	0.774	7.070	0.046	0.0147437875892	0.0002	0.000199681	0.0003	9.878e-05	8.661e-05	0.0001	0	0.0003	0	0.0010	0.0002587	40	154602	rs138528554	0.0001	0.0001	9.805e-05	0.0002	0.0023	0.0001	0.0001	0.0013	0.0011	0	0.0002	0	0	0	0.0023	8.903e-05	0.0001	0.0008	0.0002	0.0002	0.0002	0.0002	0.0010	0.0002	0.0001	0.0004	0.0003	7.217e-05	0	0.0003	0	0.0002	0	0.0034	0.0002	0.0019	0.0010	0.898	0.02442	T	0.666	0.06386	T	0.001	0.07471	B	0.001	0.04355	B	0.079914	0.20955	N	0.390904	0.799908	0.29127	N	0.24	0.09707	N	-0.04	0.63240	T	0.52	0.02853	N	0.17	0.18103	-0.9935	0.31696	T	0.059	0.24723	T	10	0.0118281245	0.00257	T	0.014744	0.35052	T	0.046	0.12618	.	.	0.39208347742	0.38818	0.3216279219071076	0.32075	0.13996330157	0.15771	0.208601802588	0.00753	T	0.018034	0.14606	T	-0.463346	0.00937	T	-0.511145	0.21197	T	0.0148441537595287	0.00313	T	0.842916	0.53348	T	0.025269208	0.01447	0.036618523	0.03146	0.025269208	0.01446	0.036618523	0.03145	-6.96	0.53741	T	.	.	0.086	0.10739	B	.;.	.;.	1.079174	0.14619	11.18	0.8563789146367099	0.16018	0.24184	0.22314	N	ALL	0.159268	0.28505	N	-1.14528152465574	0.05857	0.2681529	-1.02760811214317	0.09180	0.4553006	0.999999995632253	0.74766	0.468429	0.09910	2	0.484254	0.07192	0	0.504199	0.09095	0	0.264475	0.05362	3	.	.	4.42	-0.414	0.11743	0.436000	0.21244	-0.443000	0.09147	-0.185000	0.09859	0.677000	0.28411	0.001000	0.17328	0.252000	0.23314	0.612:0.0:0.388:0.0	7.070	0.24350	561	0.71236	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1111.98	40	chr16	2153366	.	G	A	1111.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.15;DP=856;ExcessHet=0.0000;FS=2.630;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.02;ReadPosRankSum=0.542;SOR=1.022	GT:AD:DP:GQ:PL	0/1:68,43:111:99:1126,0,1695	20	0	1	0
chr16	3050484	3050484	A	G	exonic	MMP25	.	nonsynonymous SNV	MMP25:NM_022468:exon4:c.A599G:p.E200G,	.	.	427	1060	35	0	0	35	0.0162413	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.025	B	0.093	B	0.005	N	0.900	D	1.39	L	1.95	T	-1.064	T	0.034	T	0.639	2.012	12.68	4.97	1.865	2.404	8.126	0.112	0.0157342935427	0.0026	0.00299521	0.0040	0.0004	0.0030	0	0.0059	0.0050	0.0093	0.0042	0.0037063	573	154602	rs61753772	0.0030	0.0030	0.0028	0.0031	0.0374	0.0029	0.0029	0.0333	0.0317	0.0022	0.0036	0.0188	0	0.0044	0.0374	0.0022	0.0055	0.0041	0.0033	0.0033	0.0030	0.0035	0.0060	0.0030	0.0029	0.0050	0.0046	0.0007	0	0.0060	0.0187	0	0.0038	0.0544	0.0032	0.0085	0.0041	0.102	0.30235	T	0.115	0.36630	T	0.025	0.19245	B	0.093	0.30104	B	0.005235	0.32979	N	0.135019	0.900016	0.36149	D	1.445	0.36358	L	1.95	0.22474	T	-3.71	0.70674	D	0.409	0.45237	-1.0639	0.10807	T	0.034	0.14769	T	10	0.007707119	0.00175	T	0.015734	0.36624	T	0.112	0.31546	.	.	0.580833741332	0.57755	0.4782806962624008	0.47748	0.664319092626	0.59071	0.421868532896	0.28093	T	0.200117	0.55760	T	-0.382806	0.02991	T	-0.322384	0.42312	T	0.0323805169890309	0.02369	T	0.805819	0.47523	T	0.1698819	0.37530	0.15520324	0.36391	0.1698819	0.37530	0.15520324	0.36391	-8.861	0.66798	D	0.23655069084413585	0.32032	0.282	0.51454	B	.;.	.;.	4.114602	0.61453	24.3	0.99620379997298081	0.75353	0.75012	0.36710	D	AEFBCI	0.238057	0.36024	N	-0.0692736843006788	0.38746	2.27407	0.0789221993397978	0.43489	2.649685	0.284738229942804	0.19024	0.634777	0.41761	0	0.514364	0.08380	0	0.643519	0.47002	0	0.616125	0.45549	0	.	.	4.97	4.97	0.65419	2.310000	0.43368	.	.	0.751000	0.87719	0.841000	0.30301	1.000000	0.68203	0.986000	0.61781	0.8201:0.0:0.0:0.1799	8.126	0.30157	786	0.46839	Peptidase M10, metallopeptidase|Peptidase, metallopeptidase;Peptidase M10, metallopeptidase|Peptidase, metallopeptidase|Peptidase M10A, 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	0.04762	1695.11	34	chr16	3050484	.	A	G	1695.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-1.035e+00;DP=880;ExcessHet=0.1072;FS=5.942;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=9.97;ReadPosRankSum=0.114;SOR=1.133	GT:AD:DP:GQ:PL	0/1:71,43:114:99:1017,0,2016	19	0	2	0
chr16	3664410	3664410	-	CGG	exonic	TRAP1	.	nonframeshift insertion	TRAP1:NM_001272049:exon12:c.1273_1274insCCG:p.S424_G425insA	.	.	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2105.94	38	chr16	3664410	.	C	CCGG	2105.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.761;DP=800;ExcessHet=0.0000;FS=0.752;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=20.45;ReadPosRankSum=0.789;SOR=0.554	GT:AD:DP:GQ:PL	0/1:49,54:103:99:2120,0,1887	20	0	1	0
chr16	3966949	3966949	C	T	exonic	ADCY9	.	nonsynonymous SNV	ADCY9:NM_001116:exon11:c.G2888A:p.C963Y,	.	.	423	1096	3	0	0	3	0.00136674	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.001	B	0.001	B	0.002	N	1.000	D	0.41	N	-1.67	D	-0.626	T	0.315	T	0.917	0.990	9.044	5.63	2.815	4.995	18.227	0.524	0.0173044270726	.	.	0.0001	0	0	0	0	0	0.0012	0.0008	7.76e-05	12	154602	rs774774591	4.453e-05	4.446e-05	2.862e-05	6.06e-05	0.0006	3.58e-05	3.262e-05	0.0005	0.0005	8.977e-05	0	0	0	0	0.0002	9e-07	8.291e-05	0.0006	1.314e-05	1.313e-05	1.284e-05	1.345e-05	0.0004	2.18e-06	8.2e-07	7.276e-05	3.024e-05	0	0	0	0	0	0	0	0	0	0.0004	0.585	0.05899	T	1.0	0.01155	T	0.001	0.07471	B	0.001	0.04355	B	0.002127	0.37183	N	0.327832	0.999982	0.54805	D	1.645	0.42016	L	-1.67	0.82806	D	-1.05	0.27463	N	0.765	0.76296	-0.6265	0.63718	T	0.315	0.68469	T	10	0.25168264	0.42511	T	0.017304	0.38942	T	0.524	0.79825	0.248	0.18447	0.948913446785	0.94837	0.7661973599109158	0.76568	0.714846515739	0.61907	0.626230895519	0.56611	T	0.229676	0.59556	T	0.0379552	0.56777	T	0.197471	0.82989	D	0.0647067377038739	0.07887	T	0.832517	0.50110	T	0.17214699	0.37889	0.14515203	0.34435	0.17214699	0.37889	0.14515203	0.34434	-2.291	0.04506	T	.	.	0.466	0.63004	A	.	.	2.695682	0.35200	19.83	0.72346207133593698	0.09941	0.99409	0.95660	D	AEFBI	0.778506	0.71099	D	-0.339327052833041	0.27666	1.51976	-0.123890477137045	0.34430	1.980362	0.999999973601584	0.74766	0.615465	0.37627	0	0.588066	0.40923	0	0.658983	0.55881	0	0.655142	0.61905	0	.	.	5.63	5.63	0.86108	3.977000	0.56581	.	.	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.427000	0.27384	0.0:1.0:0.0:0.0	18.227	0.89857	819	0.41190	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	921.98	34	chr16	3966949	.	C	T	921.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.800e-02;DP=897;ExcessHet=0.0000;FS=2.836;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.71;ReadPosRankSum=-1.480e-01;SOR=1.005	GT:AD:DP:GQ:PL	0/1:56,39:95:99:936,0,1411	20	0	1	0
chr16	4509433	4509433	G	C	exonic	HMOX2	.	nonsynonymous SNV	HMOX2:NM_001286271:exon4:c.G631C:p.A211P	.	.	423	1087	11	1	0	13	0.00594422	.	.	2197304	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.07	T	0.938	P	0.142	B	0.002	N	0.797	N	1.61	L	1.93	T	-0.999	T	0.040	T	0.625	3.440	17.64	4.36	1.482	2.800	6.818	0.076	0.00928104646333	0.0006	0.000998403	0.0007	0.0003	0.0003	0	0	0.0011	0.0011	0.0005	0.000705	109	154602	rs149714752	0.0007	0.0007	0.0006	0.0008	0.0069	0.0007	0.0007	0.0052	0.0046	0.0007	0.0006	0.0070	0	0.0001	0.0069	0.0006	0.0012	0.0007	0.0006	0.0006	0.0006	0.0006	0.0008	0.0005	0.0005	0.0005	0.0004	0.0001	0	0.0007	0.0058	0	0	0.0068	0.0006	0.0014	0.0008	0.127	0.27080	T	0.069	0.46182	T	0.938	0.52538	P	0.142	0.33681	B	0.001916	0.37691	N	0.311936	0.797064	0.29159	N	2.35	0.67516	M	1.93	0.22881	T	-1.27	0.31981	N	0.546	0.57263	-0.9992	0.30143	T	0.040	0.17404	T	10	0.008799285	0.00199	T	0.009281	0.24366	T	0.076	0.22200	.	.	0.384252928164	0.38032	0.7363986177957625	0.73584	0.201851073851	0.22596	0.376824975014	0.21805	T	0.395825	0.75461	T	-0.322666	0.06682	T	-0.310378	0.43618	T	0.0144720432120896	0.00294	T	0.811219	0.46271	T	0.4498263	0.64030	0.3063525	0.56660	0.4498263	0.64030	0.3063525	0.56659	-3.845	0.23038	T	.	.	0.653	0.71063	P	.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.	3.506315	0.49079	22.7	0.99684453226970837	0.79507	0.87810	0.47478	D	AEFDBCI	0.912970	0.87431	D	0.181232075835268	0.50298	3.22118	0.220786183200403	0.51001	3.286616	0.999995448483458	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.31	4.36	0.51643	2.891000	0.48316	5.815000	0.50038	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.723000	0.34869	0.2558:0.0:0.7442:0.0	6.818	0.23027	520	0.74355	.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.04762	2713.11	37	chr16	4509433	.	G	C	2713.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.626;DP=923;ExcessHet=0.1072;FS=7.407;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=13.63;ReadPosRankSum=2.22;SOR=0.367	GT:AD:DP:GQ:PL	0/1:51,56:107:99:1319,0,1329	19	0	2	0
chr16	11476815	11476815	A	G	exonic	LOC400499	.	nonsynonymous SNV	LOC400499:NM_001370704:exon19:c.T2681C:p.L894P,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1346679011	2.429e-05	9.542e-06	1.643e-05	3.193e-05	3.793e-05	9.73e-06	6.73e-06	1.562e-05	1.094e-05	0	0	0	0	0	0	3.793e-05	0	0	6.573e-06	6.567e-06	1.285e-05	0	1.471e-05	0	0	.	.	0	0	0	0	0	0	0	1.471e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6284549	0.68378	D	.	.	.	.	.	.	.	0.650641314552	0.64773	.	.	.	.	.	.	.	.	.	.	-0.0778043	0.40072	T	-0.349537	0.39258	T	.	.	.	0.411059	0.10645	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.800	0.77287	P	.	.	2.438208	0.31376	18.72	0.74609088691908088	0.10759	0.91397	0.53451	D	AEFDBI	0.853272	0.77022	D	.	.	.	.	.	.	0.995772007192003	0.34318	0.615465	0.37627	0	0.547309	0.14657	0	0.658983	0.55881	0	0.567892	0.33627	0	.	.	4.17	4.17	0.48303	6.330000	0.72881	5.097000	0.47403	0.587000	0.30956	1.000000	0.71638	0.996000	0.32793	0.047000	0.14932	1.0:0.0:0.0:0.0	11.168	0.47782	958	0.09170	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	958.98	38	chr16	11476815	.	A	G	958.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.193e+00;DP=834;ExcessHet=0.0000;FS=2.590;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.40;ReadPosRankSum=0.249;SOR=0.768	GT:AD:DP:GQ:PL	0/1:56,46:102:99:973,0,1472	20	0	1	0
chr16	11927475	11927475	G	0	exonic	NPIPB2	.	.	.	.	.	1	10	87	120	8	335	0.942363	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7143	95489.43	192	chr16	11927475	.	G	A,*	95489.43	.	AC=30,4;AF=0.714,0.095;AN=42;BaseQRankSum=1.26;DP=4093;ExcessHet=0.0303;FS=0.000;InbreedingCoeff=0.3824;MLEAC=30,4;MLEAF=0.714,0.095;MQ=59.99;MQRankSum=0.00;QD=24.53;ReadPosRankSum=0.415;SOR=0.684	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,232,0:232:99:.:.:7131,694,0,7131,694,7131	2	11	4	0
chr16	14582206	14582206	G	C	exonic	PARN	.	nonsynonymous SNV	PARN:NM_001242992:exon16:c.C1029G:p.C343W	Dyskeratosis congenita, autosomal recessive 6, Autosomal recessive;Pulmonary fibrosis and/or bone marrow failure, telomere-related, 4, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.000	D	1.000	D	2.275	M	1.91	T	-0.639	T	0.257	T	0.982	2.967	15.89	0.019	-0.196	0.232	11.520	0.641	0.443768951762	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0007	0.0022	0.0008	0.0006	0.0009	0.0007	0.0007	0.0008	0.0008	0.0005	4.476e-05	0.0001	0.0003	0	0.0002	0.0009	0.0006	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.815	0.81989	M	1.91	0.47477	T	-9.08	0.98168	D	0.906	0.93370	-0.6388	0.63197	T	0.257	0.62766	T	10	0.95576084	0.94937	D	0.443769	0.94214	D	0.641	0.86333	0.808	0.92512	0.389283895039	0.38539	0.7594861977466015	0.75896	0.721414007513	0.62234	0.886558771133	0.94825	D	0.366013	0.73134	T	0.23211	0.76920	D	0.0956334	0.76619	D	0.997612833976746	0.91988	D	0.970303	0.89317	D	0.96886563	0.98153	0.88045895	0.93594	0.96886563	0.98153	0.88045895	0.93594	-17.118	0.99008	D	.	.	0.999	0.98765	P	.;.;.;.	.;.;.;.	3.616746	0.51161	23.1	0.9928480025877614	0.58043	0.87022	0.46439	D	AEFBI	0.686411	0.64809	D	0.0378907468480801	0.43587	2.648657	-0.0492109747885764	0.37524	2.19827	0.0661472356186695	0.15384	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.81	0.019	0.13441	0.292000	0.18766	1.715000	0.28221	-0.681000	0.04224	0.982000	0.35529	1.000000	0.68203	0.977000	0.56843	0.4191:0.0:0.5809:0.0	11.520	0.49794	731	0.54177	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.4762	4257.38	166	chr16	14582206	.	G	C	4257.38	.	AC=20;AF=0.476;AN=42;BaseQRankSum=-2.582e+00;DP=3785;ExcessHet=43.6797;FS=424.104;InbreedingCoeff=-0.9074;MLEAC=20;MLEAF=0.476;MQ=60.00;MQRankSum=0.00;QD=1.35;ReadPosRankSum=1.10;SOR=14.488	GT:AD:DP:GQ:PL	0/1:95,66:161:99:262,0,1281	1	0	20	0
chr16	15001843	15001843	C	-	exonic	PDXDC1	.	frameshift deletion	PDXDC1:NM_001285447:exon4:c.184delC:p.Q63Rfs*33	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1333097673	1.376e-06	4.789e-06	2.737e-06	0	1.802e-06	2.3e-07	9e-08	3e-07	1.1e-07	0	0	0	0	0	0	1.802e-06	0	0	6.568e-06	6.566e-06	1.284e-05	0	1.469e-05	0	0	.	.	0	0	0	0	0	0	0	1.469e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	226.94	39	chr16	15001842	.	GC	G	226.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.30;DP=787;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=56.19;MQRankSum=1.93;QD=4.93;ReadPosRankSum=0.953;SOR=0.910	GT:AD:DP:GQ:PL	0/1:35,11:46:99:241,0,1038	20	0	1	0
chr16	16182528	16182528	C	T	exonic	ABCC6	.	nonsynonymous SNV	ABCC6:NM_001171:exon17:c.G2131A:p.V711M	Arterial calcification, generalized, of infancy, 2, Autosomal recessive;Pseudoxanthoma elasticum, Autosomal recessive;Pseudoxanthoma elasticum, forme fruste, Autosomal dominant	.	0	1520	2	0	0	2	0.000657462	.	.	1501155	ABCC6-related_disorder|Arterial_calcification,_generalized,_of_infancy,_2|Autosomal_recessive_inherited_pseudoxanthoma_elasticum|Pseudoxanthoma_elasticum,_forme_fruste|not_provided	.|MONDO:MONDO:0013768,MedGen:C3276161,OMIM:614473,Orphanet:51608|MONDO:MONDO:0009925,MedGen:C1275116,OMIM:264800,Orphanet:758|MONDO:MONDO:0008333,MedGen:C1867450,OMIM:177850,Orphanet:758|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0	D	0.999	D	0.989	D	0.018	U	1.000	D	1.985	M	-2.8	D	0.488	D	0.722	D	0.615	2.287	13.60	3.91	1.044	2.098	9.203	0.663	0.179550060759	7.7e-05	0.000399361	6.595e-05	0	0.0002	0	0.0002	2.998e-05	0	0.0002	9.7e-05	15	154602	rs200800189	4.515e-05	4.515e-05	3.948e-05	5.088e-05	0.0006	3.641e-05	3.321e-05	0.0004	0.0003	0	0.0006	0	2.519e-05	5.616e-05	0.0005	9.892e-06	4.967e-05	0.0002	4.595e-05	4.593e-05	3.854e-05	5.369e-05	0.0003	2.107e-05	1.526e-05	8.869e-05	5.281e-05	0	0	0.0003	0	0	9.414e-05	0	0	0.0005	0.0002	0.001	0.78490	D	0.002	0.79402	D	0.999	0.77913	D	0.989	0.78396	D	0.017523	0.27701	U	0.171760	0.953309	0.37824	D	2.25	0.63811	M	-2.8	0.91076	D	-2.24	0.50175	N	0.617	0.63289	0.488	0.90384	D	0.722	0.90459	D	10	0.4390047	0.57980	T	0.17955	0.85430	D	0.663	0.87430	.	.	0.817654381417	0.81593	0.44974024110822897	0.44892	0.395040691216	0.40653	0.559077143669	0.47137	T	0.642658	0.89061	D	-0.0555433	0.43602	T	-0.0172367	0.69210	D	0.318404257297516	0.25757	T	0.941806	0.87805	D	0.69773185	0.77933	0.62984836	0.78410	0.64313906	0.75000	0.6488289	0.79460	-7.105	0.56473	T	0.7651899904596261	0.84666	0.299	0.52929	B	.;.	.;.	3.391696	0.46957	22.4	0.99879607733266107	0.95572	0.61143	0.31399	D	AEFDBCI	0.174203	0.30132	N	0.333838287092984	0.57891	3.958578	0.226770949270869	0.51338	3.317209	0.0201043710555477	0.13226	0.516011	0.20929	0	0.610034	0.51514	0	0.602189	0.34648	0	0.542086	0.14980	0	.	.	4.86	3.91	0.44383	2.399000	0.44148	1.083000	0.23909	0.598000	0.34611	0.992000	0.37556	0.514000	0.25272	0.258000	0.23468	0.0:0.8236:0.0:0.1764	9.203	0.36433	883	0.28872	ABC transporter-like|ABC transporter-like|AAA+ ATPase domain;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1538.98	37	chr16	16182528	.	C	T	1538.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.678e+00;DP=845;ExcessHet=0.0000;FS=1.571;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.99;ReadPosRankSum=1.34;SOR=0.518	GT:AD:DP:GQ:PL	0/1:52,58:110:99:1553,0,1460	20	0	1	0
chr16	18798007	18798007	C	T	exonic	ARL6IP1	.	nonsynonymous SNV	ARL6IP1:NM_001313858:exon3:c.G121A:p.V41I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.47	T	0.019	B	0.016	B	0.000	D	1.000	D	0.975	L	0.86	T	-1.058	T	0.095	T	0.153	3.452	17.69	5.48	2.722	4.199	12.661	0.037	0.00667806585354	.	.	4.958e-05	0	0	0	0.0002	6.014e-05	0	6.062e-05	3.88e-05	6	154602	rs199972537	3.216e-05	3.215e-05	2.86e-05	3.577e-05	3.598e-05	2.479e-05	2.221e-05	2.712e-05	2.387e-05	2.989e-05	0	0	0	3.745e-05	0	3.598e-05	4.969e-05	1.16e-05	3.946e-05	3.941e-05	3.857e-05	4.039e-05	7.251e-05	1.716e-05	1.13e-05	1.923e-05	1.033e-05	7.251e-05	0	0	0	0	9.436e-05	0	2.94e-05	0	0	0.491	0.14645	T	0.056	0.46632	T	0.019	0.17989	B	0.016	0.17743	B	0.000022	0.55875	D	0.119263	0.99819	0.81001	D	1.3	0.32576	L	0.86	0.46777	T	-0.2	0.10136	N	0.261	0.30687	-1.0578	0.12311	T	0.095	0.35765	T	10	0.1798431	0.33139	T	0.006678	0.17642	T	0.037	0.09474	.	.	0.132336055621	0.12781	0.481158153913509	0.48035	0.452551727859	0.44973	0.511164665222	0.40386	T	0.02182	0.16927	T	-0.309144	0.07823	T	-0.501544	0.22188	T	0.100304166262794	0.12391	T	0.856614	0.54540	D	0.07588499	0.17127	0.054688986	0.09454	0.07588499	0.17127	0.054688986	0.09454	-3.039	0.10607	T	.	.	0.074	0.05060	B	.;.;.	.;.;.	3.387299	0.46878	22.4	0.9972100984713741	0.82054	0.86257	0.45503	D	AEFDBCIJ	0.710376	0.66416	D	-0.0444763898798249	0.39850	2.356758	0.165108397616654	0.47949	3.017537	0.99999999913484	0.74766	0.634777	0.41761	0	0.581341	0.33841	0	0.643519	0.47002	0	0.00508	0.00061	3	.	.	5.48	5.48	0.80675	4.274000	0.58717	6.011000	0.52645	0.596000	0.33519	1.000000	0.71638	1.000000	0.68203	0.920000	0.45560	0.0:0.9233:0.0:0.0767	12.661	0.56174	309	0.87553	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.02381	595.98	34	chr16	18798007	.	C	T	595.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.81;DP=719;ExcessHet=0.0000;FS=1.064;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.92;ReadPosRankSum=-3.690e-01;SOR=0.874	GT:AD:DP:GQ:PL	0/1:26,24:50:99:610,0,572	20	0	1	0
chr16	20952510	20952510	C	T	exonic	DNAH3	.	nonsynonymous SNV	DNAH3:NM_001347886:exon56:c.G10973A:p.R3658K	.	.	420	1083	18	1	0	20	0.00914913	.	.	703557	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.19	T	0.785	P	0.3	B	0.000	D	1.000	D	2.095	M	2.99	T	-1.140	T	0.030	T	0.226	3.891	19.78	5.49	2.727	4.563	19.731	0.210	.	0.0077	0.00339457	0.0057	0.0024	0.0055	0	0.0009	0.0088	0.0088	0.0004	0.0055303	855	154602	rs147732992	0.0081	0.0082	0.0084	0.0079	0.0149	0.0080	0.0080	0.0124	0.0114	0.0018	0.0060	0.0019	0	0.0010	0.0149	0.0098	0.0075	0.0004	0.0062	0.0062	0.0064	0.0059	0.0109	0.0058	0.0057	0.0096	0.0091	0.0019	0.0044	0.0109	0.0020	0	0.0008	0.0272	0.0095	0.0080	0.0002	0.006	0.61437	D	.	.	.	0.785	0.44430	P	0.3	0.41053	B	0.000001	0.84330	D	0.053272	0.999022	0.81001	D	2.075	0.57047	M	2.99	0.09262	T	-2.64	0.56630	D	0.665	0.67391	-1.1398	0.01365	T	0.030	0.12717	T	10	0.014439553	0.00304	T	.	.	.	0.210	0.50028	.	.	0.208816687407	0.20498	0.7301001046791413	0.72955	0.139739287573	0.15750	0.568034887314	0.48400	T	0.152099	0.49235	T	-0.538481	0.00342	T	-0.535236	0.18767	T	0.0342216101493965	0.02675	T	0.923008	0.71997	D	0.77575535	0.82394	0.6444966	0.79219	0.77575535	0.82396	0.6444966	0.79219	-6.516	0.50410	T	.	.	0.184	0.39932	B	.	.	3.779320	0.54333	23.5	0.98793029931682452	0.46317	0.96127	0.67656	D	AEFDGBHIJ	0.682546	0.64553	D	0.455709855517706	0.64529	4.709317	0.522750183453901	0.69525	5.372657	0.999999874169719	0.74766	0.497415	0.19182	0	0.547309	0.14657	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.49	5.49	0.81022	4.650000	0.61136	7.690000	0.65738	0.599000	0.40250	0.986000	0.36153	1.000000	0.68203	0.998000	0.85391	0.0:1.0:0.0:0.0	19.731	0.96177	313	0.87327	Dynein heavy chain domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1049.98	36	chr16	20952510	.	C	T	1049.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.038e+00;DP=835;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.05;ReadPosRankSum=1.77;SOR=0.730	GT:AD:DP:GQ:PL	0/1:66,50:116:99:1064,0,1627	20	0	1	0
chr16	20954846	20954846	C	A	exonic	DNAH3	.	nonsynonymous SNV	DNAH3:NM_001347886:exon55:c.G10900T:p.V3634F	.	.	435	1060	26	1	0	28	0.0130354	.	.	2807702	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.07	T	0.601	P	0.127	B	0.002	N	0.964	D	2.405	M	2.52	T	-1.096	T	0.023	T	0.538	2.082	12.92	0.641	-0.158	0.459	6.173	0.205	.	0.0039	0.00259585	0.0060	0.0005	0.0019	0	0.0159	0.0076	0.0077	0.0052	0.0057373	887	154602	rs142557616	0.0055	0.0055	0.0054	0.0056	0.0053	0.0054	0.0054	0.0052	0.0051	0.0008	0.0026	0.0184	2.519e-05	0.0157	0.0052	0.0053	0.0064	0.0042	0.0051	0.0051	0.0051	0.0051	0.0062	0.0048	0.0047	0.0054	0.0053	0.0008	0	0.0027	0.0199	0.0002	0.0170	0.0034	0.0059	0.0066	0.0062	0.006	0.61437	D	.	.	.	0.601	0.39346	P	0.127	0.32738	B	0.001555	0.38671	N	0.227292	0.964236	0.38395	D	1.41	0.35535	L	2.52	0.14160	T	-2.01	0.46337	N	0.647	0.65844	-1.0959	0.04625	T	0.023	0.09923	T	10	0.0120690465	0.00261	T	.	.	.	0.205	0.49236	.	.	0.16115917748	0.15686	0.7348702395358523	0.73432	0.286386344799	0.31034	0.372315108776	0.21163	T	0.152177	0.49245	T	-0.485884	0.00685	T	-0.467129	0.25825	T	0.0234940818097939	0.01082	T	0.946405	0.79487	D	0.23149152	0.45922	0.14726968	0.34859	0.23149152	0.45922	0.14726968	0.34858	-9.742	0.72353	D	.	.	0.293	0.52459	B	.	.	1.539740	0.19747	14.42	0.97898622853992834	0.36724	0.53693	0.29433	D	AEFDBI	0.083671	0.16952	N	-0.299059134737281	0.29184	1.616218	-0.31042462816223	0.27761	1.54275	0.999943699605368	0.47345	0.497415	0.19182	0	0.547309	0.14657	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.43	0.641	0.16930	0.474000	0.21858	-0.947000	0.06827	-0.153000	0.12021	0.711000	0.28732	0.002000	0.18203	0.972000	0.54974	0.0:0.3409:0.2323:0.4268	6.173	0.19644	344	0.85734	Dynein heavy chain domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.04762	4380.11	33	chr16	20954846	.	C	A	4380.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=3.98;DP=1050;ExcessHet=0.1072;FS=1.231;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=11.15;ReadPosRankSum=-2.390e-01;SOR=0.622	GT:AD:DP:GQ:PL	0/1:117,100:217:99:2446,0,2875	19	0	2	0
chr16	22075699	22075699	-	TGATCCTTTTCTGTATGGCTGCCCTAATATTTCCAATAG	exonic	MOSMO	.	nonframeshift insertion	MOSMO:NM_001164579:exon2:c.319_320insTGATCCTTTTCTGTATGGCTGCCCTAATATTTCCAATAG:p.I119_G120insVILFCMAALIFPI,	.	.	428	1079	9	0	6	15	0.00415321	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0030	0.0012	0.012	0.0033	0.0033	0.0010	0	0.0050	6.5e-06	1	154602	rs777064731	0.0011	0.0021	0.0010	0.0012	0.0064	0.0010	0.0010	0.0057	0.0055	0.0018	0.0020	0.0024	0.0064	0.0043	0.0016	0.0007	0.0014	0.0011	0.0010	0.0034	0.0009	0.0011	0.0015	0.0009	0.0008	0.0012	0.0011	0.0015	0.0022	0.0014	0.0012	0.0014	0.0012	0	0.0005	0.0005	0.0013	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	1066.07	35	chr16	22075699	.	A	ATGATCCTTTTCTGTATGGCTGCCCTAATATTTCCAATAG	1066.07	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.311;DP=1158;ExcessHet=0.1072;FS=3.997;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=59.39;MQRankSum=-2.603e+00;QD=5.92;ReadPosRankSum=-3.003e+00;SOR=1.157	GT:AD:DP:GQ:PL	0/1:68,20:88:99:631,0,2799	19	0	2	0
chr16	28342998	28342998	A	G	exonic	NPIPB6	.	nonsynonymous SNV	NPIPB6:NM_001282524:exon7:c.T887C:p.V296A,	.	.	434	1061	25	2	0	29	0.0134821	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.73	T	0.057	B	0.045	B	.	.	1.000	N	-1.04	N	0.98	T	-1.045	T	0.024	T	0.092	-3.873	0.001	.	-1.885	0.061	.	0.044	.	.	0.0271565	0.0200	0.0006	0.0014	0.0002	0	0.0003	0.0296	0.1195	0.0145406	2248	154602	rs200052562	0.0075	0.0077	0.0043	0.0107	0.1146	0.0074	0.0073	0.1127	0.1119	0.0014	0.0001	0	0.0014	0.0002	0.0056	0.0002	0.0080	0.1146	0.0044	0.0050	0.0021	0.0068	0.1234	0.0041	0.0040	0.1148	0.1114	0.0010	0	0.0004	0	0.0005	0.0007	0.0035	0.0002	0.0005	0.1234	0.975	0.02030	T	0.943	0.02670	T	0.001	0.22878	B	0.01	0.24526	B	.	.	.	.	1	0.08975	N	-1.06	0.01056	N	0.98	0.42122	T	0.46	0.03140	N	0.034	0.04188	-1.0449	0.15854	T	0.024	0.10284	T	7	0.0017014742	0.00021	T	.	.	.	0.044	0.11924	0.259	0.20159	.	.	0.022247546848577257	0.02176	1.79552406398	0.91571	.	.	.	0.001281	0.00766	T	-0.735013	0.00022	T	-0.753818	0.03340	T	0.00354669917367727	0.00037	T	0.484552	0.15306	T	0.0794477	0.18149	0.16023187	0.37331	0.0794477	0.18149	0.16023187	0.37330	-6.591	0.50984	T	.	.	0.171	0.37501	B	.;.	.;.	-0.489869	0.01900	0.158	0.17341788670390942	0.00501	0.00130	0.00805	N	AEFI	0.021143	0.00911	N	-2.00398818505986	0.00207	0.008889332	-2.02435940126503	0.00272	0.01199653	1.38657288614749E-5	0.02871	0.553676	0.25195	0	0.588015	0.36545	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	.	.	.	-1.899000	0.01691	-1.028000	0.06557	-1.369000	0.01172	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	824	0.40336	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	3186.99	33	chr16	28342998	.	A	G	3186.99	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.595e+00;DP=2083;ExcessHet=0.0000;FS=57.768;InbreedingCoeff=-0.0253;MLEAC=1;MLEAF=0.024;MQ=43.00;MQRankSum=6.63;QD=20.56;ReadPosRankSum=2.88;SOR=0.542	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:35,120:155:99:0|1:28342998_A_G:3201,0,925:28342998	20	0	1	0
chr16	29383627	29383627	A	0	exonic	NPIPB11	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3	2296.18	77	chr16	29383627	.	A	G,*	2296.18	.	AC=12,1;AF=0.300,0.025;AN=40;BaseQRankSum=2.03;DP=1184;ExcessHet=0.0208;FS=58.039;InbreedingCoeff=0.4285;MLEAC=11,1;MLEAF=0.275,0.025;MQ=35.46;MQRankSum=-8.430e-01;QD=5.36;ReadPosRankSum=-3.321e+00;SOR=3.437	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:3,19,0:22:4:.:.:543,4,0,552,57,605	11	3	5	1
chr16	29446947	29446947	T	G	exonic	BOLA2-SMG1P6	.	nonsynonymous SNV	BOLA2-SMG1P6:NM_001320624:exon2:c.A341C:p.E114A	.	.	842	677	2	1	0	4	0.00294551	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1331405376	0.0057	0.0039	0.0027	0.0083	0.0505	0.0055	0.0054	0.0488	0.0481	0	0.0002	0	3.606e-05	0	0.0038	2.823e-05	0.0028	0.0505	0.0011	0.0017	0.0007	0.0017	0.0341	0.0009	0.0009	0.0281	0.0259	0.0002	0	0.0001	0	0.0004	0	0	2.564e-05	0.0011	0.0341	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.025	54.66	9	chr16	29446947	.	T	G	54.66	.	AC=1;AF=0.025;AN=40;BaseQRankSum=-1.683e+00;DP=210;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0432;MLEAC=1;MLEAF=0.025;MQ=23.65;MQRankSum=-5.880e-01;QD=4.20;ReadPosRankSum=1.87;SOR=0.527	GT:AD:DP:GQ:PL	0/1:9,4:13:68:68,0,209	19	0	1	1
chr16	29485668	29485668	C	0	exonic	NPIPB12	.	.	.	.	.	580	711	64	0	167	231	0.0430686	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	807.49	39	chr16	29485668	.	C	*,G	807.49	.	AC=12,2;AF=0.286,0.048;AN=42;BaseQRankSum=-3.277e+00;DP=2501;ExcessHet=14.4320;FS=3.279;InbreedingCoeff=-0.5000;MLEAC=12,2;MLEAF=0.286,0.048;MQ=29.15;MQRankSum=-1.177e+00;QD=0.44;ReadPosRankSum=-2.008e+00;SOR=0.370	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:58,27,0:85:99:1|0:29485610_ACACACTC_A:682,0,2185,587,2276,2899:29485610	7	0	12	0
chr16	29987531	29987531	C	T	exonic	TAOK2	.	nonsynonymous SNV	TAOK2:NM_016151:exon16:c.C3259T:p.R1087W	.	.	.	.	.	.	.	.	.	.	.	2942685	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	.	.	0.078	B	0.023	B	0.077	N	1.000	D	0.55	N	-0.86	T	-0.899	T	0.175	T	0.593	1.799	11.98	1.65	0.208	1.055	6.616	0.300	0.113559613538	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1031649698	1.028e-05	1.163e-05	1.364e-05	6.893e-06	2.996e-05	6.18e-06	4.9e-06	5.32e-06	3.89e-06	2.996e-05	0	0	0	1.876e-05	0	9.909e-06	1.661e-05	1.164e-05	1.314e-05	1.313e-05	1.285e-05	1.345e-05	0.0002	2.18e-06	8.2e-07	.	.	0	0	0	0	0.0002	0	0	1.471e-05	0	0	0.065	0.38185	T	0.0	0.92824	D	0.002	0.24389	B	0.001	0.19966	B	0.077017	0.21129	N	0.342835	0.522131	0.81001	D	0.55	0.14455	N	-0.86	0.75001	T	-0.6	0.25332	N	0.279	0.39457	-0.8987	0.48125	T	0.175	0.51959	T	9	0.14988047	0.28358	T	0.11356	0.79210	D	0.300	0.62068	0.42	0.46200	0.765723445004	0.76358	0.6458953793029009	0.64524	1.21482918538	0.80924	0.560065627098	0.47277	T	0.135703	0.46767	T	0.0213358	0.54561	T	-0.207129	0.53969	T	0.482036978006363	0.31972	T	0.836816	0.50885	T	0.034124974	0.03770	0.0365178	0.03113	0.034124974	0.03770	0.0365178	0.03113	-4.584	0.31970	T	.	.	0.233	0.56728	B	.;.;.	.;.;.	3.836660	0.55490	23.6	0.98904650009903505	0.48254	0.90240	0.51260	D	AEFBI	0.403732	0.47730	N	-0.471225260096327	0.23027	1.233688	-0.33554863138246	0.26960	1.492717	0.0197150799101872	0.13188	0.706548	0.73137	0	0.724815	0.89359	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	4.8	1.65	0.23015	1.053000	0.30052	0.851000	0.22138	0.599000	0.40250	1.000000	0.71638	0.999000	0.35428	0.947000	0.49155	0.3142:0.6002:0.0:0.0856	6.616	0.21973	77	0.96778	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1480.98	39	chr16	29987531	.	C	T	1480.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.720e-01;DP=958;ExcessHet=0.0000;FS=0.730;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.22;ReadPosRankSum=-2.821e+00;SOR=0.602	GT:AD:DP:GQ:PL	0/1:55,57:112:99:1495,0,1392	20	0	1	0
chr16	30669223	30669231	GCCGCCGCT	-	exonic	FBRS	.	nonframeshift deletion	FBRS:NM_001105079:exon18:c.2521_2529del:p.A847_A849del,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0004	0	0	0	0	0.0006	0.0065	0.0003	3.84e-05	1	26028	rs749226697	0.0009	0.0009	0.0010	0.0009	0.0016	0.0009	0.0009	0.0010	0.0010	0.0002	0.0006	0.0011	0	4.226e-05	0.0016	0.0011	0.0007	0.0002	0.0007	0.0007	0.0007	0.0007	0.0012	0.0006	0.0006	0.0010	0.0009	0.0003	0	0.0003	0.0009	0.0002	9.479e-05	0	0.0012	0.0005	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1053.94	34	chr16	30669222	.	CGCCGCCGCT	C	1053.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.002e+00;DP=808;ExcessHet=0.0000;FS=6.354;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=22.42;ReadPosRankSum=-4.760e-01;SOR=0.442	GT:AD:DP:GQ:PL	0/1:19,28:47:99:1068,0,666	20	0	1	0
chr16	31145886	31145886	C	T	exonic	PRSS36	.	nonsynonymous SNV	PRSS36:NM_001258290:exon6:c.G623A:p.C208Y	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.13	T	1.0	D	0.999	D	.	.	0.957	D	0.75	N	-2.38	D	0.275	D	0.660	D	0.813	3.117	16.42	4.5	2.572	1.615	9.159	0.522	0.0582993286691	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1032870365	6.841e-07	6.84e-07	1.361e-06	0	.	0	0	.	.	0	0	0	0	0	0	0	1.656e-05	0	6.569e-06	6.566e-06	0	1.345e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.043	0.53172	D	0.07	0.43721	T	1.0	0.90584	D	0.999	0.92359	D	.	.	.	.	0.957242	0.38014	D	1.12	0.28775	L	-2.38	0.88298	D	-6.16	0.90215	D	0.516	0.55799	0.275	0.87145	D	0.660	0.88201	D	9	0.4477556	0.58505	T	0.058299	0.67271	D	0.522	0.79704	0.48	0.55983	0.93263670735	0.93194	0.6411442760158182	0.64049	0.982308939305	0.73784	0.66545778513	0.62190	T	0.428902	0.77788	T	0.241232	0.77777	D	0.108737	0.77488	D	0.96235853433609	0.66344	D	0.70293	0.31283	T	0.2918633	0.52165	0.67567563	0.80955	0.2918633	0.52165	0.67567563	0.80956	-13.323	0.90951	D	.	.	0.928	0.84845	P	.;.;.	.;.;.	4.680325	0.74895	26.2	0.99653875570988248	0.77505	0.68825	0.33949	D	AEFDBI	0.228452	0.35212	N	0.370853821329351	0.59848	4.167842	0.372205516430466	0.59855	4.167	0.99959377403484	0.40745	0.446893	0.09132	0	0.563428	0.19063	0	0.578056	0.29568	0	0.530356	0.10902	0	.	.	5.45	4.5	0.54382	1.316000	0.33226	.	.	0.549000	0.26987	0.968000	0.34134	1.000000	0.68203	0.749000	0.35751	0.0:0.9033:0.0:0.0967	9.159	0.36171	65	0.97253	Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	558.98	34	chr16	31145886	.	C	T	558.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.780e-01;DP=758;ExcessHet=0.0000;FS=1.074;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.16;ReadPosRankSum=0.825;SOR=0.941	GT:AD:DP:GQ:PL	0/1:33,22:55:99:573,0,907	20	0	1	0
chr16	46689713	46689713	C	T	exonic	ORC6	.	nonsynonymous SNV	ORC6:NM_014321:exon1:c.C8T:p.S3L,	Meier-Gorlin syndrome 3, Autosomal recessive	.	0	1513	9	0	0	9	0.0029654	.	.	1503553	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.3	T	0.004	B	0.001	B	0.564	N	1.000	N	1.79	L	-0.12	T	-0.949	T	0.179	T	0.101	2.353	13.83	2.82	0.859	0.384	5.805	0.036	0.0472523528206	.	.	.	.	.	.	.	.	.	.	.	.	.	rs767096909	6.901e-07	2.736e-06	1.371e-06	0	.	0	0	.	.	0	0	0	0	0	0	0	1.673e-05	0	6.574e-06	6.568e-06	1.285e-05	0	2.415e-05	0	0	.	.	2.415e-05	0	0	0	0	0	0	0	0	0	0.102	0.46513	T	0.185	0.41074	T	0.004	0.12183	B	0.001	0.04355	B	0.564146	0.11306	N	0.807991	1	0.08975	N	2.52	0.73523	M	-0.12	0.64630	T	-0.97	0.25986	N	0.288	0.32921	-0.9491	0.41126	T	0.179	0.52536	T	10	0.10052675	0.18311	T	0.047252	0.62838	D	0.036	0.09122	0.273	0.22369	0.678036545427	0.67530	0.3146030142646159	0.31373	0.0765249257685	0.08586	0.443620026112	0.31071	T	0.037913	0.24652	T	-0.181808	0.23467	T	-0.498931	0.22459	T	0.123152685045755	0.14735	T	0.668933	0.27772	T	0.09400845	0.22094	0.16870716	0.38851	0.09400845	0.22093	0.16870716	0.38850	-3.566	0.17367	T	.	.	0.158	0.34992	B	.;.	.;.	2.359085	0.30252	18.38	0.85956578484072244	0.16220	0.10496	0.15987	N	ALL	0.078037	0.15734	N	-0.724574245447729	0.15332	0.7717735	-0.740431293599564	0.15957	0.8418476	0.999999999999926	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	5.97	2.82	0.32061	0.386000	0.20429	1.665000	0.27922	0.599000	0.40250	0.000000	0.06391	0.008000	0.19753	0.040000	0.14268	0.0:0.6726:0.1586:0.1688	5.805	0.17698	294	0.88270	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1120.98	38	chr16	46689713	.	C	T	1120.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.78;DP=863;ExcessHet=0.0000;FS=1.535;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.75;ReadPosRankSum=-3.730e-01;SOR=0.913	GT:AD:DP:GQ:PL	0/1:68,47:115:99:1135,0,1490	20	0	1	0
chr16	50291884	50291884	G	A	exonic	ADCY7	.	nonsynonymous SNV	ADCY7:NM_001114:exon4:c.G524A:p.R175Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.45	T	0.002	B	0.001	B	0.181	N	1.000	N	-0.69	N	-0.95	T	-0.874	T	0.174	T	0.058	-0.471	1.826	-6.47	-1.921	-2.055	7.325	0.160	0.067809853701	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1196552682	8.91e-06	9.577e-06	8.182e-06	9.646e-06	0.0002	4.97e-06	3.83e-06	0.0001	8.776e-05	0	0	0	0.0002	0	0.0002	2.702e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.614	0.05404	T	0.677	0.12386	T	0.0	0.09854	B	0.0	0.04355	B	0.180657	0.03179	N	2.312940	1	0.08975	N	-1.085	0.01025	N	-1.45	0.80899	T	-0.27	0.11913	N	0.046	0.06454	-0.8739	0.50234	T	0.174	0.51690	T	10	0.057694077	0.06667	T	0.06781	0.70273	D	0.160	0.41473	0.521	0.62368	0.524533156562	0.52098	0.289646291806072	0.28877	0.526799517642	0.50302	0.183118969202	0.00126	T	0.257815	0.62890	T	-0.365423	0.03833	T	-0.593553	0.13359	T	0.0149818284787604	0.00321	T	0.243176	0.03527	T	0.022561023	0.00928	0.026002305	0.00668	0.022561023	0.00927	0.026002305	0.00668	-3.98	0.23503	T	.	.	0.068	0.02797	B	.;.;.;.	.;.;.;.	0.332924	0.07066	3.636	0.55642646504486737	0.05385	0.01893	0.05812	N	AEFDGBHCI	0.029522	0.02802	N	-1.9508008148389	0.00269	0.01155544	-2.01087352928381	0.00291	0.01282719	0.999999999996492	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.645312	0.48771	0	0.699875	0.68795	0	.	.	3.24	-6.47	0.01731	-1.625000	0.02139	-7.216000	0.01205	-0.707000	0.03972	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.3077:0.2417:0.4506:0.0	7.325	0.25722	768	0.49510	Adenylate cyclase, N-terminal;Adenylate cyclase, N-terminal;Adenylate cyclase, N-terminal;Adenylate cyclase, N-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	711.98	34	chr16	50291884	.	G	A	711.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.90;DP=758;ExcessHet=0.0000;FS=1.130;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.67;ReadPosRankSum=-1.109e+00;SOR=0.960	GT:AD:DP:GQ:PL	0/1:35,26:61:99:726,0,910	20	0	1	0
chr16	57382560	57382560	C	T	exonic	CX3CL1	.	nonsynonymous SNV	CX3CL1:NM_001304392:exon2:c.C467T:p.P156L	.	.	421	1096	5	0	0	5	0.00227583	.	.	714993	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0	D	0.088	B	0.005	B	0.000	N	1.000	N	0	N	3.7	T	-0.968	T	0.007	T	0.094	0.839	8.387	1.29	0.304	0.269	2.536	0.091	0.00439106112767	0.0036	0.00139776	0.0030	0.0004	0.0029	0.0001	0.0024	0.0046	0.0045	0	0.0029819	461	154602	rs137886321	0.0033	0.0033	0.0033	0.0032	0.0040	0.0032	0.0032	0.0037	0.0036	0.0004	0.0022	0.0038	0	0.0031	0.0040	0.0038	0.0029	6.956e-05	0.0030	0.0030	0.0029	0.0031	0.0047	0.0027	0.0027	0.0043	0.0041	0.0005	0.0011	0.0038	0.0043	0	0.0030	0	0.0047	0.0033	0	0.059	0.37966	T	0.104	0.38596	T	0.088	0.25022	B	0.005	0.11217	B	0.000061	0.00414	N	21.798200	1	0.08975	N	0	0.06538	N	3.7	0.13434	T	-1.62	0.38924	N	0.072	0.05414	-0.9683	0.37551	T	0.007	0.02244	T	10	0.0042164624	0.00084	T	0.004391	0.10718	T	0.091	0.26358	.	.	0.043077524339	0.03247	0.10863226829346284	0.10792	0.310891961663	0.33396	0.245358467102	0.03295	T	0.274866	0.64738	T	-0.676851	0.00050	T	-0.741998	0.03807	T	0.00579047969745276	0.00063	T	0.537446	0.18074	T	0.04769897	0.08195	0.03955536	0.04075	0.04769897	0.08194	0.03955536	0.04075	-3.855	0.21629	T	.	.	0.079	0.10497	B	.;.;.	.;.;.	0.767465	0.11374	7.988	0.42212572945508198	0.03096	0.03944	0.09342	N	AEFDGBCI	.	.	.	-1.12769086801623	0.06155	0.2825768	-1.1299363594426	0.07133	0.3458407	0.99045781639145	0.32159	0.615465	0.37627	0	0.547309	0.14657	0	0.658983	0.55881	0	0.567892	0.33627	0	.	.	4.45	1.29	0.20717	0.150000	0.16082	1.242000	0.25113	-0.150000	0.12128	0.000000	0.06391	0.003000	0.18671	0.000000	0.00833	0.1064:0.1944:0.5076:0.1916	2.536	0.04427	846	0.36215	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.07143	2644.68	35	chr16	57382560	.	C	T	2644.68	.	AC=3;AF=0.071;AN=42;BaseQRankSum=2.67;DP=857;ExcessHet=0.3300;FS=4.703;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=12.42;ReadPosRankSum=-1.560e-01;SOR=0.616	GT:AD:DP:GQ:PL	0/1:37,44:81:99:1124,0,768	18	0	3	0
chr16	66925060	66925060	C	T	exonic	RRAD	.	nonsynonymous SNV	RRAD:NM_001128850:exon2:c.G120A:p.M40I	.	.	444	1069	9	0	0	9	0.0041919	.	.	2343267	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.37	T	0.001	B	0.002	B	0.000	D	1.000	D	0.975	L	-0.08	T	-0.984	T	0.145	T	0.272	3.780	19.19	3.42	1.036	5.995	10.909	0.065	0.215254888953	.	.	0.0008	0	0	0	0	0	0	0.0010	2.59e-05	4	154602	rs764978814	0.0001	0.0001	7.734e-05	0.0001	0.0013	8.913e-05	8.34e-05	0.0008	0.0007	0	0	0	0	0	0.0013	7.723e-05	4.31e-05	0.0010	5.92e-05	5.91e-05	5.144e-05	6.732e-05	0.0004	3.08e-05	2.212e-05	7.279e-05	3.341e-05	0	0	0	0	0	0	0	0.0001	0	0.0004	0.502	0.07695	T	0.602	0.07894	T	0.001	0.07471	B	0.002	0.06944	B	0.000000	0.84330	D	0.078689	0.999948	0.51968	D	1.79	0.46772	L	-0.08	0.63911	T	-1.14	0.29323	N	0.558	0.58883	-0.9840	0.34069	T	0.145	0.46895	T	10	0.07116127	0.10452	T	0.215255	0.87499	D	0.065	0.18881	0.319	0.29741	0.641759411539	0.63880	0.41515920431293374	0.41431	1.64548930497	0.89442	0.924835085869	0.98669	D	0.188929	0.54299	T	-0.362877	0.03970	T	-0.329403	0.41535	T	0.16455699552915	0.18202	T	0.759024	0.38317	T	0.5474054	0.69811	0.52511954	0.72564	0.5474054	0.69812	0.52511954	0.72564	-3.566	0.17367	T	.	.	0.802	0.77371	P	.;.	.;.	4.142923	0.62090	24.4	0.99223456643504737	0.55963	0.91496	0.53653	D	ALL	0.850498	0.76733	D	-0.387566083621317	0.25910	1.41015	-0.223929567258161	0.30681	1.729565	0.999999999997258	0.74766	0.437478	0.07067	0	0.552344	0.17405	0	0.606814	0.37721	0	0.554799	0.18163	0	.	.	4.38	3.42	0.38259	6.260000	0.72463	7.459000	0.59036	-0.390000	0.05348	1.000000	0.71638	1.000000	0.68203	0.920000	0.45560	0.1454:0.7144:0.1402:0.0	10.909	0.46307	113	0.95418	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	661.98	33	chr16	66925060	.	C	T	661.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.789e+00;DP=699;ExcessHet=0.0000;FS=1.283;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.55;ReadPosRankSum=-9.650e-01;SOR=1.022	GT:AD:DP:GQ:PL	0/1:14,26:40:99:676,0,386	20	0	1	0
chr16	67184488	67184488	C	T	exonic	EXOC3L1	.	nonsynonymous SNV	EXOC3L1:NM_178516:exon14:c.G2147A:p.R716H,	.	.	418	1097	6	1	0	8	0.00363306	.	.	2808024	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.3	T	1.0	D	0.993	D	0.000	D	0.997	D	2.32	M	3.15	T	-1.178	T	0.043	T	0.538	2.366	13.87	4.43	2.543	1.441	11.333	0.218	.	0.0046	0.00179712	0.0064	0.0023	0.0083	0	0	0.0073	0	0.0066	0.0016559	256	154602	rs201102355	0.0081	0.0077	0.0082	0.0081	0.0095	0.0080	0.0080	0.0094	0.0093	0.0015	0.0016	0.0021	2.898e-05	0.0022	0.0027	0.0095	0.0053	0.0046	0.0049	0.0049	0.0054	0.0044	0.0092	0.0046	0.0045	0.0086	0.0084	0.0016	0	0.0016	0.0032	0	0.0008	0	0.0092	0.0005	0.0031	0.127	0.27080	T	0.044	0.49663	D	1.0	0.90584	D	0.993	0.81110	D	0.000000	0.84330	D	0.000000	0.997379	0.43837	D	2.91	0.84121	M	3.15	0.07820	T	-0.89	0.24026	N	0.313	0.35301	-1.1784	0.00393	T	0.043	0.18659	T	10	0.00631842	0.00143	T	.	.	.	0.218	0.51265	.	.	0.71668769033	0.71419	0.659647506135891	0.65901	1.06283970898	0.76536	0.588545203209	0.51289	T	0.006238	0.05676	T	-0.436761	0.01351	T	-0.392334	0.34279	T	0.0600442503732015	0.07176	T	0.840116	0.51512	T	0.12282085	0.28853	0.1602537	0.37334	0.12282085	0.28853	0.1602537	0.37334	-3.802	0.20834	T	.	.	0.137	0.29914	B	.	.	2.581401	0.33471	19.35	0.98304441655331865	0.40078	0.55486	0.29876	D	ALL	0.181792	0.30911	N	0.378894523499644	0.60279	4.215222	0.273866399948809	0.54018	3.568194	0.999999999999273	0.74766	0.437478	0.07067	0	0.606814	0.50340	0	0.503968	0.08637	0	0.554799	0.18163	0	.	.	5.44	4.43	0.52967	0.663000	0.24735	2.604000	0.33538	0.599000	0.40250	0.384000	0.26039	0.991000	0.31484	0.005000	0.06747	0.0:0.8166:0.1834:0.0	11.333	0.48723	44	0.97806	.	PDP2|NFATC3|NAE1|NAE1|NAE1|CDH16	Adipose_Subcutaneous|Artery_Aorta|Cells_Cultured_fibroblasts|Cells_EBV-transformed_lymphocytes|Testis|Testis	NAE1|NAE1|NAE1	Adrenal_Gland|Adrenal_Gland|Colon_Transverse	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1133.98	35	chr16	67184488	.	C	T	1133.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.13;DP=800;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=19.55;ReadPosRankSum=-6.870e-01;SOR=0.879	GT:AD:DP:GQ:PL	0/1:20,38:58:99:1148,0,499	20	0	1	0
chr16	67228398	67228398	C	G	exonic	TMEM208	.	nonsynonymous SNV	TMEM208:NM_014187:exon3:c.C146G:p.A49G,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.33	T	0.679	P	0.136	B	0.000	D	1.000	D	1.39	L	1.52	T	-1.096	T	0.060	T	0.366	2.071	12.88	5.39	2.528	4.514	15.888	0.079	0.0137786039362	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.842e-07	1.437e-05	0	1.375e-06	8.995e-07	0	0	.	.	0	0	0	0	0	0	8.995e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.346	0.12632	T	0.342	0.17910	T	0.679	0.41373	P	0.136	0.33270	B	0.000340	0.45700	D	0.193031	0.994158	0.81001	D	1.7	0.43825	L	1.52	0.30669	T	-1.76	0.42191	N	0.539	0.58287	-1.0958	0.04639	T	0.060	0.25237	T	10	0.29794908	0.47354	T	0.013779	0.33440	T	0.079	0.23065	0.457	0.52265	0.0762999501168	0.06990	0.5849071720731794	0.58420	0.288640209993	0.31269	0.727495908737	0.71140	T	0.060991	0.31535	T	-0.105032	0.35590	T	-0.388647	0.34711	T	0.644348740577698	0.38221	D	0.905209	0.66592	D	0.18404564	0.39701	0.18685585	0.41883	0.18404564	0.39700	0.18685585	0.41883	-4.656	0.32867	T	.	.	0.144	0.35951	B	.;.	.;.	3.123735	0.42181	21.5	0.97918489311336776	0.36864	0.96631	0.70114	D	AEFGBHCI	0.849400	0.76622	D	0.248460247980296	0.53561	3.524604	0.366247796533668	0.59493	4.127561	0.99999999987856	0.74766	0.722319	0.85440	0	0.672317	0.65289	0	0.606735	0.37207	0	0.735409	0.98432	0	.	.	5.39	5.39	0.77615	4.879000	0.62792	5.972000	0.52016	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:1.0:0.0:0.0	15.888	0.79052	25	0.98345	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.1765	123.4	57	chr16	67228398	.	C	G	123.4	.	AC=6;AF=0.176;AN=34;BaseQRankSum=-2.360e+00;DP=1501;ExcessHet=1.7912;FS=113.169;InbreedingCoeff=-0.2184;MLEAC=6;MLEAF=0.176;MQ=60.00;MQRankSum=0.00;QD=0.22;ReadPosRankSum=0.968;SOR=10.087	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:77,20:97:42:0|1:67228398_C_G:42,0,2356:67228398	11	0	6	4
chr16	69742393	69742393	C	T	exonic	NOB1	.	nonsynonymous SNV	NOB1:NM_014062:exon9:c.G1178A:p.G393E,	.	.	429	1079	12	2	0	16	0.00735971	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.999	D	0.94	D	0.299	N	1.000	D	0.895	L	1.5	T	-1.005	T	0.112	T	0.914	2.916	15.72	4.39	2.417	7.240	17.517	0.341	0.0275078611136	0.0025	0.00179712	0.0023	0.0011	0.0010	0	0	0.0026	0.0011	0.0053	0.0023286	360	154602	rs61731358	0.0035	0.0035	0.0034	0.0035	0.0060	0.0034	0.0033	0.0055	0.0054	0.0004	0.0008	0.0002	0	0.0004	0.0010	0.0039	0.0024	0.0060	0.0022	0.0022	0.0021	0.0023	0.0056	0.0020	0.0019	0.0039	0.0034	0.0009	0	0.0019	0.0003	0.0002	0.0002	0	0.0035	0.0014	0.0056	0.75	0.03587	T	0.461	0.12562	T	0.999	0.77913	D	0.94	0.67560	D	0.299282	0.03944	N	3.054110	1	0.81001	D	2.985	0.85602	M	1.5	0.31205	T	-3.09	0.63438	D	0.803	0.79889	-1.0048	0.28517	T	0.112	0.40075	T	9	0.0281896	0.00954	T	0.027508	0.50311	D	0.341	0.66297	.	.	0.71338130811	0.71087	0.641847548974825	0.64119	0.673999816247	0.59622	0.623126745224	0.56170	T	0.034415	0.23314	T	-0.0865381	0.38645	T	0.104975	0.77237	D	0.047995444148706	0.05142	T	0.922708	0.71908	D	0.38964838	0.60007	0.28401715	0.54397	0.38964838	0.60007	0.28401715	0.54396	-9.266	0.69394	D	.	.	0.462	0.62791	A	.	.	4.926500	0.81191	27.5	0.99425408712221763	0.63984	0.98485	0.83276	D	AEFDGBCI	0.869630	0.79025	D	0.556016650460909	0.70448	5.503138	0.560220001257497	0.72110	5.758667	1.0	0.98316	0.722319	0.85440	0	0.702456	0.74545	0	0.702456	0.68683	0	0.735409	0.98432	0	.	.	4.39	4.39	0.52211	7.283000	0.78001	7.612000	0.61951	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.930000	0.46718	0.0:1.0:0.0:0.0	17.517	0.87673	74	0.96871	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1633.98	33	chr16	69742393	.	C	T	1633.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.03;DP=819;ExcessHet=0.0000;FS=1.553;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=56.95;MQRankSum=1.32;QD=14.33;ReadPosRankSum=-7.820e-01;SOR=0.541	GT:AD:DP:GQ:PL	0/1:56,58:114:99:1648,0,1491	20	0	1	0
chr16	71020213	71020213	T	C	exonic	HYDIN	.	nonsynonymous SNV	HYDIN:NM_001270974:exon22:c.A3291G:p.I1097M,	Ciliary dyskinesia, primary, 5, Autosomal recessive	.	2	1494	24	2	0	28	0.00928382	.	.	2817723	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.3	T	0.703	P	0.181	B	0.112	U	1.000	D	1.385	L	2.81	T	-0.967	T	0.012	T	0.304	2.411	14.02	-9.21	-1.172	-0.549	1.698	0.088	0.0140817100175	0.0021	0.00159744	0.0034	0.0007	0.0004	0.0002	0.0031	0.0047	0.0024	0.0031	0.0028266	437	154602	rs183427172	0.0038	0.0038	0.0038	0.0038	0.0043	0.0037	0.0037	0.0042	0.0042	0.0006	0.0011	0.0006	2.521e-05	0.0044	0.0031	0.0043	0.0030	0.0027	0.0024	0.0024	0.0024	0.0023	0.0036	0.0022	0.0021	0.0032	0.0031	0.0008	0	0.0023	0.0003	0	0.0025	0.0034	0.0036	0.0043	0.0033	0.087	0.32453	T	.	.	.	.	.	.	.	.	.	0.111835	0.19383	U	0.254648	0.999998	0.08975	N	2.67	0.78151	M	2.81	0.10975	T	-0.87	0.23590	N	0.258	0.29197	-0.9672	0.37774	T	0.012	0.04605	T	10	0.0069707036	0.00158	T	0.014082	0.33954	T	0.088	0.25558	.	.	0.0138822411134	0.00435	0.07397533932724035	0.07334	.	.	0.36395534873	0.19961	T	0.057144	0.30484	T	-0.554317	0.00275	T	-0.568748	0.15565	T	0.0185920013155794	0.00574	T	.	.	.	0.113294505	0.26759	0.060531665	0.11542	0.113294505	0.26759	0.060531665	0.11542	-6.574	0.50854	T	.	.	0.176	0.38552	B	.	.	1.027199	0.14072	10.64	0.97822397181407372	0.36200	0.04439	0.10038	N	AEBI	0.068882	0.13607	N	-1.09736083693029	0.06691	0.3087662	-1.28488053743304	0.04634	0.2190485	0.999999997581366	0.74766	0.533608	0.22052	0	0.586423	0.34054	0	0.685742	0.62368	0	0.542086	0.14980	0	.	.	4.61	-9.21	0.00578	-0.488000	0.06578	-1.333000	0.05692	-0.278000	0.06506	0.417000	0.26305	0.000000	0.08366	0.961000	0.51904	0.2194:0.232:0.3592:0.1895	1.698	0.02694	610	0.67008	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	870.98	33	chr16	71020213	.	T	C	870.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.04;DP=769;ExcessHet=0.0000;FS=8.512;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=54.21;MQRankSum=0.719;QD=13.61;ReadPosRankSum=0.767;SOR=0.654	GT:AD:DP:GQ:PL	0/1:30,34:64:99:885,0,718	20	0	1	0
chr16	71973443	71973443	G	C	exonic	PKD1L3	.	nonsynonymous SNV	PKD1L3:NM_181536:exon12:c.C1834G:p.L612V,	.	.	433	1084	4	1	0	6	0.00275989	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.145e-07	6.84e-07	1.41e-06	0	.	0	0	.	.	0	0	0	0	0	0	0	1.723e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.773	0.04431	T	0.132	0.27209	B	0.031	0.21939	B	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.034	0.00942	.	.	.	.	.	.	.	0.069598496	0.10007	T	.	.	.	.	.	.	.	0.0401082797425	0.02173	0.3116762149970256	0.31080	.	.	0.261261641979	0.05042	T	0.014587	0.12389	T	-0.153322	0.27793	T	-0.458013	0.26816	T	.	.	.	0.371963	0.08817	T	0.02456752	0.01301	0.047452465	0.06837	0.02456752	0.01301	0.047452465	0.06836	-5.571	0.42526	T	.	.	0.083	0.09191	B	.	.	-0.716730	0.01283	0.068	0.42079830302029975	0.03078	0.01709	0.05426	N	AEFDBHI	.	.	.	.	.	.	.	.	.	0.988702153200608	0.31601	0.053691	0.00478	0	0.063388	0.01293	0	0.060301	0.00762	0	0.058706	0.01089	0	0.0468684	0.05763	5.39	-9.01	0.00638	-0.237000	0.09007	-1.721000	0.04849	-0.642000	0.04431	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2516:0.2963:0.3637:0.0883	4.075	0.09376	88	0.96322	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1379.98	42	chr16	71973443	.	G	C	1379.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.629;DP=866;ExcessHet=0.0000;FS=0.713;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.55;ReadPosRankSum=-4.780e-01;SOR=0.844	GT:AD:DP:GQ:PL	0/1:55,55:110:99:1394,0,1288	20	0	1	0
chr16	72056628	72056628	G	A	exonic	HP	.	nonsynonymous SNV	HP:NM_001318138:exon3:c.G187A:p.D63N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	T	0.061	B	0.018	B	.	.	1.000	D	0.845	L	0.83	T	-1.093	T	0.071	T	0.097	0.448	6.432	1.84	0.349	0.957	6.785	0.030	0.0145613365833	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.666	0.30515	T	0.177	0.92824	T	0.013	0.16609	B	0.008	0.13708	B	.	.	.	.	1	0.81001	D	1.81	0.47622	L	0.83	0.47815	T	-0.14	0.15782	N	0.128	0.16447	-1.0927	0.05097	T	0.071	0.28806	T	9	0.15194994	0.28711	T	0.014561	0.34757	T	0.030	0.07022	0.497	0.58678	0.289098819767	0.28531	0.11910103623453867	0.11837	0.236360420895	0.26171	0.543978989124	0.45008	T	0.324881	0.69565	T	-0.244522	0.14778	T	-0.589016	0.13751	T	0.06197302500585	0.07476	T	0.80472	0.45238	T	0.048287988	0.08393	0.048178136	0.07102	0.048287988	0.08392	0.048178136	0.07101	-7.594	0.58269	D	.	.	0.136	0.46745	B	.;.;.;.	.;.;.;.	1.315965	0.17197	13.02	0.69471451485269775	0.08983	0.43100	0.27024	N	AEFGBI	0.828597	0.74766	D	-0.672742401122374	0.16800	0.8591732	-0.597985029352194	0.19545	1.049141	0.744259064020968	0.23260	0.553676	0.25195	0	0.588015	0.36545	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	4.84	1.84	0.24348	1.037000	0.29850	3.140000	0.36479	0.594000	0.32500	0.822000	0.30018	1.000000	0.68203	0.052000	0.15357	0.2895:0.0:0.7105:0.0	6.785	0.22852	174	0.93268	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	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.1111	122.27	10	chr16	72056628	.	G	A	122.27	.	AC=2;AF=0.111;AN=18;BaseQRankSum=0.431;DP=288;ExcessHet=0.1524;FS=0.000;InbreedingCoeff=-0.1750;MLEAC=4;MLEAF=0.222;MQ=38.68;MQRankSum=0.00;QD=3.82;ReadPosRankSum=-3.660e-01;SOR=0.119	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:10,5:15:59:0|1:72056628_G_A:59,0,298:72056628	7	0	2	12
chr16	72056631	72056631	G	A	exonic	HP	.	nonsynonymous SNV	HP:NM_001318138:exon3:c.G190A:p.G64R	.	.	.	.	.	.	.	.	.	0.9976	0.942	.	.	.	.	.	.	.	.	.	.	.	.	.	0.48	T	1.0	D	0.999	D	.	.	1.000	D	2.5	M	0.81	T	-0.670	T	0.283	T	0.768	0.750	7.976	4.84	2.664	4.773	13.650	0.312	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	2.805e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.036	0.78490	D	0.0	0.92824	D	1.0	0.90584	D	0.991	0.79672	D	.	.	.	.	0.857946	0.81001	D	2.955	0.85029	M	0.81	0.48460	T	-0.58	0.83899	N	0.511	0.63204	-0.6699	0.61833	T	0.283	0.65448	T	9	0.66874856	0.70584	D	0.143234	0.82557	D	0.312	0.63375	0.551	0.66716	0.624938293356	0.62188	0.2705249212620448	0.26965	0.288080729046	0.31214	0.703854739666	0.67702	T	0.365288	0.73073	T	0.114526	0.65818	D	-0.0732684	0.65392	T	0.52836860971527	0.33674	D	0.949005	0.80370	D	0.17544976	0.38404	0.20636405	0.44846	0.17544976	0.38404	0.20636405	0.44845	-8.34	0.63364	D	.	.	0.679	0.72087	P	.;.;.;.	.;.;.;.	4.312529	0.65933	24.9	0.77395238562230129	0.11858	0.89573	0.50124	D	AEFBI	0.966484	0.98891	D	0.506739950870263	0.67486	5.088251	0.420222802635425	0.62826	4.504763	0.999481848907043	0.39952	0.553676	0.25195	0	0.588015	0.36545	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	4.84	4.84	0.62125	4.904000	0.62975	11.370000	0.92605	0.594000	0.32500	1.000000	0.71638	1.000000	0.68203	0.066000	0.16387	0.0:0.0:1.0:0.0	13.650	0.61780	174	0.93268	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	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.3571	260.17	9	chr16	72056631	.	G	A,C	260.17	.	AC=4,1;AF=0.286,0.071;AN=14;BaseQRankSum=-3.190e-01;DP=247;ExcessHet=2.2455;FS=0.000;InbreedingCoeff=-0.2704;MLEAC=8,2;MLEAF=0.571,0.143;MQ=39.10;MQRankSum=0.00;QD=3.61;ReadPosRankSum=1.01;SOR=0.180	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:10,5,0:15:59:0|1:72056628_G_A:59,0,298,88,311,400:72056628	2	0	4	14
chr16	72056631	72056631	G	C	exonic	HP	.	nonsynonymous SNV	HP:NM_001318138:exon3:c.G190C:p.G64R	.	.	.	.	.	.	.	.	.	0.9999	0.886	.	.	.	.	.	.	.	.	.	.	.	.	.	0.48	T	1.0	D	0.999	D	.	.	1.000	D	2.5	M	0.81	T	-0.670	T	0.283	T	0.768	0.630	7.385	4.84	2.664	4.773	13.650	0.312	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.036	0.78490	D	0.0	0.92824	D	1.0	0.90584	D	0.991	0.79672	D	.	.	.	.	1	0.81001	D	2.955	0.85029	M	0.81	0.48460	T	-0.58	0.83899	N	0.511	0.63204	-0.6699	0.61833	T	0.283	0.65448	T	9	0.6627866	0.70252	D	.	.	.	0.312	0.63375	0.551	0.66716	0.624938293356	0.62188	0.2705249074910103	0.26965	0.288080729046	0.31214	0.703854739666	0.67702	T	0.365288	0.73073	T	0.114535	0.65818	D	-0.0732555	0.65393	T	0.499475828049257	0.32610	T	0.949005	0.80370	D	0.17544976	0.38404	0.20636405	0.44846	0.17544976	0.38404	0.20636405	0.44845	-8.34	0.63364	D	.	.	0.679	0.72087	P	.;.;.;.	.;.;.;.	4.045414	0.59928	24.2	0.75314754377524518	0.11027	0.91508	0.53678	D	AEFBI	0.967500	0.98997	D	0.506739950870263	0.67486	5.088251	0.420222802635425	0.62826	4.504763	0.999481848907043	0.39952	0.553676	0.25195	0	0.588015	0.36545	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	4.84	4.84	0.62125	4.904000	0.62975	11.370000	0.92605	0.594000	0.32500	1.000000	0.71638	1.000000	0.68203	0.066000	0.16387	0.0:0.0:1.0:0.0	13.650	0.61780	174	0.93268	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	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.3571	260.17	9	chr16	72056631	.	G	A,C	260.17	.	AC=4,1;AF=0.286,0.071;AN=14;BaseQRankSum=-3.190e-01;DP=247;ExcessHet=2.2455;FS=0.000;InbreedingCoeff=-0.2704;MLEAC=8,2;MLEAF=0.571,0.143;MQ=39.10;MQRankSum=0.00;QD=3.61;ReadPosRankSum=1.01;SOR=0.180	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:10,5,0:15:59:0|1:72056628_G_A:59,0,298,88,311,400:72056628	2	0	4	14
chr16	72056632	72056632	G	A	splicing	HP	NM_005143:exon3:c.190+1G>A;NM_001318138:exon3:c.190+1G>A	.	.	.	.	.	.	.	.	.	.	.	1.0000	0.77	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.000	D	.	.	.	.	.	.	.	.	.	0.994	9.059	4.84	2.664	3.259	13.650	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.035e-06	1.404e-06	2.09e-06	0	3.009e-05	0	0	.	.	0	0	0	3.009e-05	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.161395	0.70330	D	-0.00594352	0.69950	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.;.	.;.;.;.	4.408646	0.68188	25.2	0.96901902273035678	0.31542	0.84171	0.43254	D	AEFBI	.	.	.	0.879231487400687	0.90706	10.52714	0.664537954584481	0.79698	7.137518	0.999481848907043	0.39952	0.074636	0.01641	0	0.084543	0.02171	0	0.060301	0.00762	0	0.058706	0.01089	0	0.957822	0.64339	4.84	4.84	0.62125	3.378000	0.52164	11.370000	0.92605	0.594000	0.32500	1.000000	0.71638	1.000000	0.68203	0.075000	0.16954	0.0:0.0:1.0:0.0	13.650	0.61780	174	0.93268	.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	114.53	9	chr16	72056632	.	G	A	114.53	.	AC=2;AF=0.071;AN=28;BaseQRankSum=-2.880e-01;DP=267;ExcessHet=0.1424;FS=0.000;InbreedingCoeff=-0.0002;MLEAC=3;MLEAF=0.107;MQ=39.02;MQRankSum=0.00;QD=3.95;ReadPosRankSum=0.00;SOR=0.142	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:10,5:15:59:0|1:72056628_G_A:59,0,298:72056628	12	0	2	7
chr16	74999927	74999927	C	G	exonic	ZNRF1	.	nonsynonymous SNV	ZNRF1:NM_032268:exon1:c.C256G:p.P86A,	.	.	411	1092	19	0	0	19	0.0086246	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08	T	0.988	D	0.908	P	0.004	N	1.000	D	0	N	.	.	-0.712	T	0.169	T	0.49	2.623	14.73	4.82	2.645	5.718	17.013	0.112	.	0.0007	0.00259585	0.0084	0	0.0041	0	0.0541	0.0043	0.0063	0.0146	0.0018758	290	154602	rs112370673	0.0020	0.0020	0.0018	0.0023	0.0107	0.0020	0.0019	0.0101	0.0098	0.0002	0.0006	0.0013	0	0.0022	0.0060	0.0016	0.0020	0.0107	0.0014	0.0014	0.0012	0.0015	0.0116	0.0012	0.0011	0.0092	0.0083	0.0004	0	0.0008	0.0009	0.0002	0.0019	0.0068	0.0014	0.0014	0.0116	0.013	0.54683	D	0.929	0.13103	T	0.98	0.59353	D	0.811	0.58656	P	0.004346	0.33837	N	0.238952	0.982402	0.39888	D	0.69	0.16971	N	.	.	.	-1.18	0.36787	N	0.311	0.42149	-0.7115	0.59879	T	0.169	0.50939	T	9	0.005193025	0.00113	T	.	.	.	0.112	0.31546	.	.	0.128874641272	0.12493	0.44317445975474395	0.44235	0.618583360851	0.56246	0.680616140366	0.64357	T	0.009138	0.08339	T	-0.294774	0.09162	T	-0.186804	0.55889	T	0.0412968066536565	0.03925	T	0.739826	0.36767	T	0.102306746	0.24172	0.0729915	0.15810	0.102306746	0.24172	0.0729915	0.15809	-2.421	0.05263	T	.	.	0.051	0.01290	B	.;.;.;.	.;.;.;.	3.785883	0.54463	23.5	0.98515267012984697	0.42398	0.88716	0.48777	D	AEFDBHCI	0.631225	0.61228	D	0.284316375642299	0.55352	3.699438	0.391905685816939	0.61063	4.301575	0.999999999999872	0.74766	0.733237	0.96898	0	0.52208	0.09955	0	0.594344	0.31042	0	0.621717	0.48901	0	.	.	4.82	4.82	0.61641	5.750000	0.68350	7.408000	0.58623	0.583000	0.30283	1.000000	0.71638	1.000000	0.68203	0.957000	0.51019	0.0:1.0:0.0:0.0	17.013	0.86285	827	0.39843	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	572.98	41	chr16	74999927	.	C	G	572.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-7.890e-01;DP=811;ExcessHet=0.0000;FS=6.798;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.55;ReadPosRankSum=0.573;SOR=0.520	GT:AD:DP:GQ:PL	0/1:41,26:67:99:587,0,1076	20	0	1	0
chr16	75414590	75414590	C	T	exonic	CFDP1	.	nonsynonymous SNV	CFDP1:NM_006324:exon2:c.G170A:p.S57N,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.43	T	0.003	B	0.001	B	0.234	N	0.997	N	1.59	L	0.92	T	-1.042	T	0.106	T	0.131	4.170	21.6	5.64	2.658	2.103	15.216	0.095	0.00761520582534	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.455	0.39820	T	0.226	0.25438	T	0.003	0.11197	B	0.001	0.04355	B	0.233843	0.15860	N	0.673458	0.996543	0.22981	N	1.95	0.52479	M	0.92	0.44461	T	-0.63	0.34795	N	0.19	0.20793	-1.0416	0.16830	T	0.106	0.38636	T	10	0.14283314	0.27125	T	0.007615	0.20192	T	0.095	0.27398	0.157	0.06070	0.629112818682	0.62608	0.02188016319116512	0.02140	0.0131043289129	0.01263	0.479553222656	0.35995	T	0.036751	0.24220	T	-0.229881	0.16666	T	-0.567985	0.15635	T	0.479482755643933	0.31878	T	0.562144	0.19863	T	0.11928983	0.28089	0.078210615	0.17497	0.11928983	0.28089	0.078210615	0.17497	-3.813	0.20999	T	.	.	0.064	0.17189	B	.;.;.	.;.;.	2.067376	0.26289	17.07	0.9942059769889221	0.63742	0.67476	0.33447	D	AEFBI	0.266404	0.38333	N	-0.0348032291430037	0.40283	2.389696	0.154357485495578	0.47373	2.968535	0.999999663528292	0.74766	0.736574	0.97449	0	0.709663	0.81188	0	0.732669	0.93749	0	0.613276	0.41899	0	.	.	5.64	5.64	0.86480	2.160000	0.41975	0.180000	0.15620	0.599000	0.40250	1.000000	0.71638	0.965000	0.29475	0.997000	0.79791	0.0:1.0:0.0:0.0	15.216	0.72954	635	0.64580	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.1111	191.42	45	chr16	75414590	.	C	T	191.42	.	AC=4;AF=0.111;AN=36;BaseQRankSum=-1.369e+00;DP=983;ExcessHet=0.6776;FS=179.431;InbreedingCoeff=-0.1639;MLEAC=5;MLEAF=0.139;MQ=59.99;MQRankSum=0.00;QD=0.87;ReadPosRankSum=-9.360e-01;SOR=8.688	GT:AD:DP:GQ:PL	0/1:34,15:49:50:50,0,480	14	0	4	3
chr16	81026592	81026592	C	T	exonic	CENPN	.	nonsynonymous SNV	CENPN:NM_001270473:exon8:c.C704T:p.T235I	.	.	444	1074	4	0	0	4	0.00185874	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09	T	0.036	B	0.037	B	0.009	N	1.000	N	1.085	L	1.95	T	-1.075	T	0.027	T	0.042	1.083	9.421	3.05	0.674	0.559	7.094	0.050	.	0.0078	0.00159744	0.0056	0.0013	0.0033	0	0.0067	0.0086	0.0033	0.0004	0.0058473	904	154602	rs184140976	0.0076	0.0078	0.0078	0.0074	0.0090	0.0075	0.0074	0.0089	0.0088	0.0015	0.0043	0.0041	0	0.0048	0.0031	0.0090	0.0068	0.0004	0.0058	0.0058	0.0061	0.0055	0.0094	0.0055	0.0054	0.0088	0.0085	0.0013	0	0.0074	0.0049	0	0.0043	0	0.0094	0.0062	0.0008	0.069	0.39575	T	0.086	0.46182	T	0.004	0.12183	B	0.023	0.19966	B	0.009252	0.30447	N	0.387872	0.777261	0.29372	N	1.16	0.29674	L	1.95	0.22474	T	-3.37	0.66665	D	0.187	0.26111	-1.0753	0.08287	T	0.027	0.11574	T	10	0.012299359	0.00265	T	.	.	.	0.050	0.13987	.	.	0.190952846119	0.18690	0.36160453263133374	0.36074	0.0127320834133	0.01221	0.339266866446	0.16329	T	0.034539	0.23362	T	-0.650431	0.00072	T	-0.696045	0.06044	T	0.0144336417407577	0.00291	T	0.653235	0.26965	T	0.069666594	0.15280	0.10793976	0.25994	0.069666594	0.15280	0.10793976	0.25993	-2.243	0.05884	T	.	.	0.116	0.29367	B	.;.;.;.	.;.;.;.	1.113104	0.14983	11.49	0.97702130507212881	0.35442	0.15313	0.18850	N	AEFDBHCIJ	0.052189	0.09292	N	-0.552009113051416	0.20421	1.076377	-0.48105105455134	0.22675	1.232842	0.656211835155867	0.22220	0.744818	0.98587	0	0.708844	0.79440	0	0.724815	0.87919	0	0.76194	0.99817	0	.	.	5.25	3.05	0.34272	0.930000	0.28458	1.827000	0.29086	-0.224000	0.07868	0.001000	0.13787	0.409000	0.24749	0.589000	0.31115	0.0:0.6533:0.1203:0.2264	7.094	0.24478	711	0.56613	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1270.98	34	chr16	81026592	.	C	T	1270.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.400e-02;DP=799;ExcessHet=0.0000;FS=3.719;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.34;ReadPosRankSum=0.225;SOR=1.149	GT:AD:DP:GQ:PL	0/1:48,55:103:99:1285,0,1076	20	0	1	0
chr16	81174762	81174762	G	C	exonic	PKD1L2	.	nonsynonymous SNV	PKD1L2:NM_001278423:exon5:c.C681G:p.S227R	.	.	422	1097	3	0	0	3	0.0013655	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	0.531	P	0.101	B	0.435	N	1.000	N	.	.	5.08	T	-1.015	T	0.042	T	0.449	0.786	8.143	-1.37	0.111	-0.271	0.983	0.017	0.00428553373801	0.0002	0.000599042	7.548e-05	0.0007	0	0	0	0	0	7.799e-05	5.82e-05	9	154602	rs181458928	5.415e-05	5.404e-05	5.59e-05	5.238e-05	0.0006	4.419e-05	4.09e-05	0.0004	0.0003	0.0006	0	7.691e-05	0	0	0.0002	3.242e-05	0	0.0002	0.0002	0.0002	0.0002	0.0002	0.0006	0.0001	0.0001	0.0005	0.0004	0.0006	0	6.539e-05	0	0	0	0	1.47e-05	0	0.0004	.	.	.	.	.	.	0.023	0.37720	B	0.014	0.30765	B	0.435442	0.04729	N	1.408380	1	0.08975	N	.	.	.	2.52	0.31987	T	-2.05	0.53420	N	0.172	0.18376	-1.0153	0.25240	T	0.042	0.17910	T	9	0.013562918	0.00287	T	0.004286	0.10373	T	0.062	0.17934	0.229	0.15556	0.0986583533028	0.09354	.	.	5.81669046081E-4	0.00054	0.283741682768	0.08019	T	.	.	.	-0.436889	0.01349	T	-0.483369	0.24088	T	0.016337813809514	0.00403	T	0.534647	0.17878	T	.	.	.	.	.	.	.	.	-4.05	0.27683	T	.	.	0.157	0.43572	B	.;.;.	.;.;.	0.499108	0.08683	5.454	0.8420096727038473	0.15154	0.02393	0.06788	N	AEFDGBHCI	0.046242	0.07655	N	-0.847912648327992	0.12101	0.5878467	-0.954061165600635	0.10829	0.5479561	0.999998797595745	0.74766	0.706298	0.61202	0	0.563428	0.19063	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	4.47	-1.37	0.08582	-0.260000	0.08730	0.067000	0.14209	0.676000	0.76740	0.000000	0.06391	0.000000	0.08366	0.027000	0.12703	0.2157:0.1795:0.3742:0.2305	0.983	0.01349	929	0.16858	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1910.98	35	chr16	81174762	.	G	C	1910.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.225e+00;DP=922;ExcessHet=0.0000;FS=0.653;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.75;ReadPosRankSum=0.359;SOR=0.598	GT:AD:DP:GQ:PL	0/1:65,74:139:99:1925,0,1689	20	0	1	0
chr16	84237245	84237245	G	C	exonic	KCNG4	.	nonsynonymous SNV	KCNG4:NM_172347:exon2:c.C241G:p.P81A,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.000	D	1.000	D	3.38	M	-1.21	T	0.656	D	0.715	D	0.886	4.666	25.7	5.12	2.374	9.869	17.548	0.842	0.204076598707	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.007	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	0.999999	0.81001	D	3.995	0.96723	H	-1.21	0.78645	T	-7.29	0.96191	D	0.918	0.92084	0.656	0.92617	D	0.715	0.90210	D	10	0.98367405	0.98518	D	0.204077	0.86911	D	0.842	0.95063	0.874	0.96529	0.902595158394	0.90162	0.7267457974176721	0.72618	0.300276557022	0.32389	0.515795707703	0.41034	T	0.693763	0.91120	D	0.395435	0.89649	D	0.330238	0.89519	D	0.999233722686768	0.96639	D	0.954405	0.82627	D	0.51331943	0.67873	0.423432	0.66214	0.51331943	0.67874	0.423432	0.66214	-10.882	0.79007	D	.	.	0.463	0.62854	A	.;.	.;.	4.778257	0.77414	26.7	0.99712226857641983	0.81423	0.99450	0.96181	D	AEFDBI	0.898741	0.84237	D	0.983424013398968	0.95212	13.410	0.906003638124208	0.95829	14.01148	0.999999997529032	0.74766	0.497415	0.19182	0	0.59043	0.45803	0	0.59043	0.30614	0	0.542086	0.14980	0	.	.	5.12	5.12	0.69459	9.993000	0.99245	11.716000	0.94734	0.578000	0.29377	1.000000	0.71638	1.000000	0.68203	0.866000	0.41154	0.0:0.0:1.0:0.0	17.548	0.87765	873	0.30802	Potassium channel tetramerisation-type BTB domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2212.98	42	chr16	84237245	.	G	C	2212.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.502e+00;DP=957;ExcessHet=0.0000;FS=2.004;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.92;ReadPosRankSum=0.338;SOR=0.608	GT:AD:DP:GQ:PL	0/1:67,92:159:99:2227,0,1757	20	0	1	0
chr16	87311224	87311224	C	A	exonic	C16orf95	.	nonsynonymous SNV	C16orf95:NM_001195124:exon4:c.G403T:p.G135C,	.	.	417	1104	1	0	0	1	0.000452694	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0800698156559	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.006	0.61437	D	0.007	0.69154	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-6.7	0.92476	D	0.584	0.60495	.	.	.	.	.	.	.	0.78708345	0.78339	D	0.08007	0.73378	D	.	.	.	.	0.57334081109	0.57001	0.21155206361292508	0.21071	.	.	.	.	.	.	.	.	-0.0258506	0.48016	T	-0.274909	0.47323	T	.	.	.	0.572043	0.20399	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.492	0.64238	A	.	.	3.928165	0.57397	23.9	0.99690961563060387	0.79909	0.69251	0.34114	D	AEFBI	0.275424	0.39038	N	.	.	.	.	.	.	0.939918123851883	0.27409	0.553676	0.25195	0	0.588015	0.36545	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	4.0	3.03	0.34070	3.261000	0.51233	5.722000	0.49476	0.599000	0.40250	0.996000	0.39380	1.000000	0.68203	0.011000	0.09372	0.0:0.8713:0.0:0.1287	6.630	0.22046	946	0.12043	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1974.98	33	chr16	87311224	.	C	A	1974.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.192;DP=883;ExcessHet=0.0000;FS=0.565;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.55;ReadPosRankSum=-2.299e+00;SOR=0.762	GT:AD:DP:GQ:PL	0/1:85,86:171:99:1989,0,1961	20	0	1	0
chr16	87604296	87604296	-	CTGCTG	exonic	JPH3	.	nonframeshift insertion	JPH3:NM_001271604:exon2:c.439_440insCTGCTG:p.A157_V158insAA,	Huntington disease-like 2, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5238	43111.59	81	chr16	87604287	.	CCTGCTGCTG	CCTGCTGCTGCTGCTG,CCTGCTGCTGCTG,CCTGCTGCTGCTGCTGCTG,C,CCTGCTG	43111.59	.	AC=17,4,2,1,1;AF=0.405,0.095,0.048,0.024,0.024;AN=42;BaseQRankSum=-1.390e-01;DP=2773;ExcessHet=0.6491;FS=1.966;InbreedingCoeff=0.1106;MLEAC=17,4,2,1,1;MLEAF=0.405,0.095,0.048,0.024,0.024;MQ=60.00;MQRankSum=0.00;QD=27.87;ReadPosRankSum=0.537;SOR=0.883	GT:AD:DP:GQ:PL	1/1:0,103,2,0,0,0:105:99:4680,264,0,4158,232,3991,4369,319,4055,4264,4369,319,4055,4264,4264,4369,319,4055,4264,4264,4264	4	4	6	0
chr16	87604296	87604296	-	CTG	exonic	JPH3	.	nonframeshift insertion	JPH3:NM_001271604:exon2:c.439_440insCTG:p.A157_V158insA,	Huntington disease-like 2, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5238	43111.59	81	chr16	87604287	.	CCTGCTGCTG	CCTGCTGCTGCTGCTG,CCTGCTGCTGCTG,CCTGCTGCTGCTGCTGCTG,C,CCTGCTG	43111.59	.	AC=17,4,2,1,1;AF=0.405,0.095,0.048,0.024,0.024;AN=42;BaseQRankSum=-1.390e-01;DP=2773;ExcessHet=0.6491;FS=1.966;InbreedingCoeff=0.1106;MLEAC=17,4,2,1,1;MLEAF=0.405,0.095,0.048,0.024,0.024;MQ=60.00;MQRankSum=0.00;QD=27.87;ReadPosRankSum=0.537;SOR=0.883	GT:AD:DP:GQ:PL	1/1:0,103,2,0,0,0:105:99:4680,264,0,4158,232,3991,4369,319,4055,4264,4369,319,4055,4264,4264,4369,319,4055,4264,4264,4264	4	4	6	0
chr16	87604296	87604296	-	CTGCTGCTG	exonic	JPH3	.	nonframeshift insertion	JPH3:NM_001271604:exon2:c.439_440insCTGCTGCTG:p.A157_V158insAAA,	Huntington disease-like 2, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5238	43111.59	81	chr16	87604287	.	CCTGCTGCTG	CCTGCTGCTGCTGCTG,CCTGCTGCTGCTG,CCTGCTGCTGCTGCTGCTG,C,CCTGCTG	43111.59	.	AC=17,4,2,1,1;AF=0.405,0.095,0.048,0.024,0.024;AN=42;BaseQRankSum=-1.390e-01;DP=2773;ExcessHet=0.6491;FS=1.966;InbreedingCoeff=0.1106;MLEAC=17,4,2,1,1;MLEAF=0.405,0.095,0.048,0.024,0.024;MQ=60.00;MQRankSum=0.00;QD=27.87;ReadPosRankSum=0.537;SOR=0.883	GT:AD:DP:GQ:PL	1/1:0,103,2,0,0,0:105:99:4680,264,0,4158,232,3991,4369,319,4055,4264,4369,319,4055,4264,4264,4369,319,4055,4264,4264,4264	4	4	6	0
chr16	87604294	87604296	CTG	-	exonic	JPH3	.	nonframeshift deletion	JPH3:NM_001271604:exon2:c.437_439del:p.A157del,	Huntington disease-like 2, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5238	43111.59	81	chr16	87604287	.	CCTGCTGCTG	CCTGCTGCTGCTGCTG,CCTGCTGCTGCTG,CCTGCTGCTGCTGCTGCTG,C,CCTGCTG	43111.59	.	AC=17,4,2,1,1;AF=0.405,0.095,0.048,0.024,0.024;AN=42;BaseQRankSum=-1.390e-01;DP=2773;ExcessHet=0.6491;FS=1.966;InbreedingCoeff=0.1106;MLEAC=17,4,2,1,1;MLEAF=0.405,0.095,0.048,0.024,0.024;MQ=60.00;MQRankSum=0.00;QD=27.87;ReadPosRankSum=0.537;SOR=0.883	GT:AD:DP:GQ:PL	1/1:0,103,2,0,0,0:105:99:4680,264,0,4158,232,3991,4369,319,4055,4264,4369,319,4055,4264,4264,4369,319,4055,4264,4264,4264	4	4	6	0
chr16	89284161	89284161	A	G	exonic	ANKRD11	.	nonsynonymous SNV	ANKRD11:NM_001256183:exon9:c.T2381C:p.I794T	KBG syndrome, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.57	T	0.0	B	0.001	B	0.473	N	1.000	N	-0.69	N	1.34	T	-1.005	T	0.024	T	0.026	-1.923	0.008	-1.61	-0.189	0.562	1.593	0.018	0.00727015055541	.	.	8.591e-06	0	8.868e-05	0	0	0	0	0	6.5e-06	1	154602	rs759272573	1.377e-06	3.42e-06	1.369e-06	1.386e-06	4.661e-05	2.3e-07	9e-08	7.73e-06	2.89e-06	0	4.661e-05	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	0.52	0.10465	T	0.0	0.02946	B	0.0	0.01387	B	0.473085	0.12254	N	0.748708	1	0.08975	N	-1.085	0.01025	N	1.34	0.34841	T	1.27	0.00985	N	0.046	0.02088	-1.0048	0.28517	T	0.024	0.10194	T	10	0.016104728	0.00339	T	0.00727	0.19280	T	0.018	0.03083	0.218	0.13932	0.102598925029	0.09809	3.480766670945786E-4	0.00031	0.108005847181	0.12179	0.323267638683	0.13916	T	0.061263	0.31607	T	-0.50949	0.00505	T	-0.78994	0.02166	T	0.0337778290875112	0.02601	T	0.126787	0.01303	T	0.020807045	0.00653	0.037021473	0.03266	0.020807045	0.00653	0.037021473	0.03266	-3.569	0.17410	T	0.0408067304843778	0.00374	0.07	0.06024	B	.;.;.;.	.;.;.;.	-0.089938	0.03702	0.755	0.29245769297825269	0.01541	0.12818	0.17497	N	AEDBI	0.048489	0.08280	N	-1.30269010940199	0.03644	0.1631694	-1.23211650683061	0.05401	0.257258	0.785011936865866	0.23914	0.706548	0.73137	0	0.724815	0.89359	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	5.43	-1.61	0.07951	0.642000	0.24426	0.839000	0.22025	-0.752000	0.03574	0.196000	0.24261	0.001000	0.17328	0.524000	0.29567	0.2653:0.2317:0.3836:0.1193	1.593	0.02498	819	0.41190	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	1	0	0	0	0.3529	1077.74	147	chr16	89284161	.	A	G	1077.74	.	AC=12;AF=0.353;AN=34;BaseQRankSum=-2.922e+00;DP=2410;ExcessHet=9.6308;FS=135.155;InbreedingCoeff=-0.4981;MLEAC=14;MLEAF=0.412;MQ=60.00;MQRankSum=0.00;QD=0.73;ReadPosRankSum=0.835;SOR=11.622	GT:AD:DP:GQ:PL	0/1:85,27:112:99:172,0,1942	5	0	12	4
chr17	413815	413815	C	0	exonic	C17orf97	.	.	.	.	.	492	947	19	0	64	83	0.00993204	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	2918.97	43	chr17	413815	.	C	T,*	2918.97	.	AC=5,4;AF=0.139,0.111;AN=36;BaseQRankSum=-9.170e-01;DP=995;ExcessHet=1.0444;FS=2.763;InbreedingCoeff=-0.0264;MLEAC=6,4;MLEAF=0.167,0.111;MQ=51.80;MQRankSum=-3.755e+00;QD=7.60;ReadPosRankSum=-9.580e-01;SOR=0.561	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:31,23,0:54:99:0|1:413815_C_T:782,0,1208,875,1277,2152:413815	10	0	5	3
chr17	413822	413822	C	0	exonic	C17orf97	.	.	.	.	.	509	931	17	0	65	82	0.00904737	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	3137.97	43	chr17	413822	.	C	A,*	3137.97	.	AC=5,4;AF=0.139,0.111;AN=36;BaseQRankSum=-1.168e+00;DP=1002;ExcessHet=1.0444;FS=2.178;InbreedingCoeff=-0.0264;MLEAC=6,4;MLEAF=0.167,0.111;MQ=52.17;MQRankSum=-3.592e+00;QD=7.94;ReadPosRankSum=-4.250e-01;SOR=0.584	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:31,24,0:55:99:0|1:413815_C_T:884,0,1205,977,1277,2254:413815	10	0	5	3
chr17	413824	413824	C	0	exonic	C17orf97	.	.	.	.	.	487	954	61	4	16	85	0.0349014	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	3065.97	43	chr17	413824	.	C	T,*	3065.97	.	AC=5,4;AF=0.139,0.111;AN=36;BaseQRankSum=0.335;DP=1012;ExcessHet=1.0444;FS=2.500;InbreedingCoeff=-0.0264;MLEAC=6,4;MLEAF=0.167,0.111;MQ=52.20;MQRankSum=-3.428e+00;QD=7.59;ReadPosRankSum=-6.710e-01;SOR=0.530	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:33,26,0:59:99:0|1:413815_C_T:881,0,1262,980,1336,2317:413815	10	0	5	3
chr17	413831	413831	A	0	exonic	C17orf97	.	.	.	.	.	725	697	61	4	35	104	0.0471634	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	3197.3	43	chr17	413831	.	A	G,*	3197.3	.	AC=5,4;AF=0.139,0.111;AN=36;BaseQRankSum=0.140;DP=1043;ExcessHet=1.1637;FS=2.534;InbreedingCoeff=0.0221;MLEAC=6,4;MLEAF=0.167,0.111;MQ=52.56;MQRankSum=-3.559e+00;QD=7.69;ReadPosRankSum=-1.155e+00;SOR=0.480	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:33,25,0:58:99:0|1:413815_C_T:839,0,1265,938,1336,2275:413815	10	0	5	3
chr17	1734198	1734198	G	A	exonic	WDR81	.	nonsynonymous SNV	WDR81:NM_001163673:exon7:c.G1552A:p.V518I	Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2, Autosomal recessive	.	0	1468	53	1	0	55	0.0183885	.	.	656413	Inborn_genetic_diseases|not_provided|WDR81-related_disorder	MeSH:D030342,MedGen:C0950123|MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	.	.	0.008	B	0.002	B	0.004	N	0.936	D	0.075	N	5.03	T	-0.779	T	0.003	T	0.22	1.326	10.35	2.44	0.299	0.087	7.493	0.046	.	0.0018	0.00179712	0.0028	0.0005	0.0017	0	0	0.0031	0.0112	0.0062	0.002238	346	154602	rs143022530	0.0023	0.0023	0.0022	0.0024	0.0182	0.0023	0.0022	0.0153	0.0143	0.0007	0.0020	0.0093	2.531e-05	0.0001	0.0182	0.0020	0.0032	0.0055	0.0018	0.0018	0.0018	0.0018	0.0037	0.0016	0.0015	0.0024	0.0020	0.0005	0	0.0025	0.0084	0	0	0.0136	0.0023	0.0043	0.0037	0.793	0.05091	T	0.428	0.14075	T	.	.	.	.	.	.	0.004185	0.34013	N	0.297223	0.936187	0.37147	D	0.15	0.08895	N	5.03	0.01287	T	0.47	0.03463	N	0.132	0.14622	-0.7788	0.56370	T	0.003	0.00929	T	9	0.00987193	0.00221	T	.	.	.	0.046	0.12618	.	.	0.0551355673512	0.04727	0.04702116963289699	0.04645	0.322510031875	0.34437	0.265241235495	0.05531	T	0.005783	0.18084	T	-0.60948	0.00128	T	-0.647162	0.09154	T	0.00800503247498098	0.00095	T	0.825517	0.48813	T	0.027648179	0.01986	0.024120312	0.00428	0.023187935	0.01037	0.023196675	0.00334	-4.661	0.33956	T	.	.	0.069	0.03736	B	.;.;.;.;.	.;.;.;.;.	0.699930	0.10684	7.382	0.96945392376489525	0.31715	0.58370	0.30624	D	AEFGBHCI	0.275343	0.39032	N	-0.501868932992382	0.22019	1.17284	-0.319444422381407	0.27471	1.524563	0.960580613726729	0.28498	0.634777	0.41761	0	0.643519	0.57511	0	0.723109	0.80598	0	0.592323	0.36904	0	.	.	5.48	2.44	0.28875	0.023000	0.13424	-0.272000	0.10340	-0.123000	0.13640	0.833000	0.30177	0.012000	0.20211	0.993000	0.69303	0.4256:0.0:0.5744:0.0	7.493	0.26642	683	0.59664	.;.;WD40-repeat-containing domain;.;WD40-repeat-containing domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1163.98	39	chr17	1734198	.	G	A	1163.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.817;DP=952;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.68;ReadPosRankSum=-7.600e-02;SOR=0.631	GT:AD:DP:GQ:PL	0/1:61,48:109:99:1178,0,1519	20	0	1	0
chr17	3292560	3292560	T	C	exonic	OR3A1	.	nonsynonymous SNV	OR3A1:NM_002550:exon1:c.A23G:p.N8S,	.	.	427	1094	1	0	0	1	0.00045683	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.438	B	0.252	B	0.000	D	0.870	D	2.54	M	2.49	T	-1.026	T	0.062	T	0.313	4.546	24.6	6.1	2.340	2.783	15.51	0.176	0.0115965891629	.	0.000399361	6.831e-05	0.0003	0	0	0	0	0	0.0003	6.47e-05	10	154602	rs190322674	4.182e-05	4.173e-05	2.455e-05	5.93e-05	0.0005	3.318e-05	3.008e-05	0.0003	0.0003	0.0004	0	0	0	0	0.0002	4.505e-06	1.661e-05	0.0005	3.285e-05	3.281e-05	2.571e-05	4.031e-05	0.0002	1.261e-05	7.98e-06	3.245e-05	1.912e-05	9.632e-05	0	0	0	0	0	0	0	0	0.0002	0.004	0.65419	D	0.007	0.69154	D	0.438	0.35858	B	0.252	0.39069	B	0.000252	0.46924	D	0.000000	0.869714	0.35540	D	2.455	0.71248	M	2.49	0.14531	T	-3.46	0.67705	D	0.37	0.41162	-1.0264	0.21625	T	0.062	0.25744	T	10	0.13827339	0.26298	T	0.011597	0.29387	T	0.176	0.44373	.	.	0.451118754121	0.44735	0.10037792400719035	0.09968	0.0383316184181	0.04077	0.296737521887	0.09916	T	0.098891	0.40316	T	-0.403307	0.02203	T	-0.506581	0.21668	T	0.194186434149742	0.20088	T	0.567243	0.20104	T	0.26984292	0.50056	0.17314713	0.39620	0.26984292	0.50056	0.17314713	0.39619	-6.123	0.47297	T	.	.	0.083	0.09191	B	.;.	.;.	2.595951	0.33687	19.41	0.99643024660330315	0.76819	0.89681	0.50302	D	AEFDBI	0.182407	0.30974	N	0.337128802010646	0.58062	3.976565	0.422792909408657	0.62987	4.523916	0.012136831371428	0.12283	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	6.1	6.1	0.99108	2.412000	0.44263	1.167000	0.24596	0.665000	0.62972	0.793000	0.29632	0.902000	0.27988	0.052000	0.15357	0.0:0.0:0.0:1.0	15.51	0.75505	661	0.61838	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1445.98	40	chr17	3292560	.	T	C	1445.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.76;DP=928;ExcessHet=0.0000;FS=1.381;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.48;ReadPosRankSum=-8.070e-01;SOR=0.829	GT:AD:DP:GQ:PL	0/1:79,59:138:99:1460,0,1879	20	0	1	0
chr17	4933907	4933923	ACCACCCCAGAGCCCAC	0	exonic	GP1BA	.	.	.	Bernard-Soulier syndrome, type A1 (recessive), Autosomal recessive;Bernard-Soulier syndrome, type A2 (dominant), Autosomal dominant;von Willebrand disease, platelet-type, Autosomal dominant	.	625	661	31	11	194	247	0.0385455	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6905	36673.09	217	chr17	4933907	.	ACCACCCCAGAGCCCAC	A,*	36673.09	.	AC=11,22;AF=0.262,0.524;AN=42;BaseQRankSum=-2.218e+00;DP=3857;ExcessHet=0.9430;FS=0.000;InbreedingCoeff=0.0101;MLEAC=11,22;MLEAF=0.262,0.524;MQ=59.64;MQRankSum=0.207;QD=13.33;ReadPosRankSum=0.579;SOR=0.805	GT:AD:DP:GQ:PGT:PID:PL:PS	2/2:0,0,128:128:99:.:.:4516,4532,5230,405,535,0	1	2	3	0
chr17	4933915	4933915	A	0	exonic	GP1BA	.	.	.	Bernard-Soulier syndrome, type A1 (recessive), Autosomal recessive;Bernard-Soulier syndrome, type A2 (dominant), Autosomal dominant;von Willebrand disease, platelet-type, Autosomal dominant	.	1045	137	36	84	220	424	0.426778	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.75	3830.01	217	chr17	4933915	.	A	*,G	3830.01	.	AC=30,4;AF=0.750,0.100;AN=40;BaseQRankSum=1.91;DP=3710;ExcessHet=0.5418;FS=1.062;InbreedingCoeff=-0.0551;MLEAC=31,4;MLEAF=0.775,0.100;MQ=59.65;MQRankSum=0.00;QD=1.56;ReadPosRankSum=0.309;SOR=0.941	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,128,0:128:99:.:.:4516,405,0,4532,535,5230	0	10	6	1
chr17	7466222	7466222	C	T	exonic	ZBTB4	.	nonsynonymous SNV	ZBTB4:NM_001128833:exon3:c.G580A:p.A194T	.	.	407	1111	4	0	0	4	0.00179695	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.42	T	0.001	B	0.002	B	0.015	N	0.997	N	0	N	3.71	T	-0.920	T	0.008	T	0.075	2.188	13.27	3.78	1.213	1.424	8.951	0.023	.	.	0.00379393	0.0025	0	0.0002	0	0	0	0.0024	0.0172	0.0020181	312	154602	rs566002388	0.0011	0.0011	0.0006	0.0016	0.0181	0.0011	0.0010	0.0173	0.0170	2.987e-05	2.236e-05	0	2.519e-05	0	0.0007	6.295e-06	0.0009	0.0181	0.0005	0.0005	0.0003	0.0008	0.0161	0.0004	0.0004	0.0133	0.0122	0	0	0	0	0.0002	0	0.0034	0	0	0.0161	0.037	0.43085	D	0.127	0.35082	T	0.001	0.07471	B	0.002	0.06944	B	0.015140	0.28333	N	0.285757	0.997216	0.22748	N	1.245	0.31408	L	3.71	0.04046	T	-0.18	0.09796	N	0.195	0.21449	-0.9204	0.45499	T	0.008	0.02720	T	10	0.0038846135	0.00074	T	.	.	.	0.023	0.04649	0.203	0.11797	0.043077524339	0.03247	0.1493737635848845	0.14859	1.09603112824	0.77576	0.540101289749	0.44460	T	0.004364	0.03768	T	-0.638747	0.00085	T	-0.676667	0.07188	T	0.0379875004435837	0.03329	T	.	.	.	0.07033331	0.15484	0.08113084	0.18412	0.07033331	0.15484	0.08113084	0.18411	-4.957	0.36370	T	.	.	0.078	0.09868	B	.;.	.;.	2.655630	0.34589	19.67	0.99710134291659169	0.81283	0.40424	0.26433	N	AEFDBI	0.049682	0.08608	N	-0.437381655119132	0.24170	1.303191	-0.240011870319383	0.30117	1.692996	0.990756761786439	0.32258	0.67177	0.52595	0	0.702456	0.74545	0	0.645312	0.48771	0	0.635551	0.53088	0	.	.	4.76	3.78	0.42629	1.008000	0.29475	1.806000	0.28922	0.599000	0.40250	0.996000	0.39380	1.000000	0.68203	0.968000	0.53726	0.0:0.8193:0.0:0.1807	8.951	0.34950	180	0.92993	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1218.98	41	chr17	7466222	.	C	T	1218.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.233;DP=839;ExcessHet=0.0000;FS=0.856;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.87;ReadPosRankSum=-3.570e-01;SOR=0.671	GT:AD:DP:GQ:PL	0/1:32,50:82:99:1233,0,674	20	0	1	0
chr17	7774767	7774767	G	A	exonic	DNAH2	.	nonsynonymous SNV	DNAH2:NM_020877:exon29:c.G4510A:p.D1504N,	.	.	422	1099	1	0	0	1	0.000454752	.	.	3216930	DNAH2-related_disorder	.	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.17	T	0.001	B	0.006	B	0.000	D	1.000	D	0.44	N	0.11	T	-1.097	T	0.027	T	0.047	2.664	14.87	5.59	2.646	6.918	18.372	0.093	.	0.0012	0.00878594	0.0112	0.0006	0.0914	0.0010	0.0015	0.0020	0.0057	0.0081	0.0101874	1575	154602	rs79662110	0.0039	0.0039	0.0042	0.0036	0.0809	0.0038	0.0038	0.0787	0.0778	0.0009	0.0809	0.0003	0.0013	0.0019	0.0003	0.0009	0.0035	0.0080	0.0051	0.0051	0.0045	0.0056	0.0373	0.0048	0.0046	0.0348	0.0338	0.0009	0	0.0373	0.0012	0.0023	0.0010	0.0034	0.0013	0.0052	0.0068	0.389	0.10874	T	.	.	.	0.001	0.07471	B	0.006	0.12133	B	0.000238	0.47286	D	0.181735	0.994929	0.42472	D	1.31	0.32734	L	0.11	0.61208	T	-2.0	0.46146	N	0.315	0.35727	-1.0970	0.04474	T	0.027	0.11574	T	10	0.003359288	0.00058	T	.	.	.	0.093	0.26882	.	.	.	.	0.26625961875772436	0.26538	0.39640834386	0.40755	0.39069879055	0.23769	T	0.133061	0.46351	T	-0.582022	0.00187	T	-0.543725	0.17933	T	0.0222472712701815	0.00936	T	0.878912	0.59457	D	0.19226654	0.40889	0.21500468	0.46073	0.19226654	0.40889	0.21500468	0.46072	-4.784	0.34404	T	.	.	0.076	0.05935	B	.;.	.;.	3.078367	0.41403	21.3	0.9914419719411931	0.53627	0.94761	0.62239	D	AEFDBCI	0.764080	0.70098	D	0.00642196003444505	0.42146	2.533987	0.227448752569345	0.51377	3.320652	0.999999999999905	0.74766	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	5.59	5.59	0.84677	7.187000	0.77268	11.909000	0.99543	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.895000	0.43227	0.0:0.0:1.0:0.0	18.372	0.90354	240	0.90628	Dynein heavy chain, domain-2;Dynein heavy chain, domain-2	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1531.98	34	chr17	7774767	.	G	A	1531.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.656;DP=812;ExcessHet=0.0000;FS=0.706;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.77;ReadPosRankSum=0.704;SOR=0.564	GT:AD:DP:GQ:PL	0/1:60,60:120:99:1546,0,1506	20	0	1	0
chr17	7846865	7846865	-	ACCACC	exonic	KDM6B	.	nonframeshift insertion	KDM6B:NM_001080424:exon9:c.758_759insACCACC:p.P264_L265insPP	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.8333	52625.89	54	chr17	7846859	.	TACCACC	TACCACCACCACC,TACCACCACCACCACC,TACCACCACC,T,TACCACCACCACCACCACC	52625.89	.	AC=34,4,2,1,1;AF=0.810,0.095,0.048,0.024,0.024;AN=42;BaseQRankSum=1.36;DP=1924;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=NaN;MLEAC=35,4,1,1,1;MLEAF=0.833,0.095,0.024,0.024,0.024;MQ=59.90;MQRankSum=0.00;QD=26.75;ReadPosRankSum=0.709;SOR=0.555	GT:AD:DP:GQ:PL	1/4:1,28,0,0,40,0:69:99:2752,1633,1593,2767,1683,2870,2767,1683,2870,2870,1085,0,1199,1199,1135,2767,1683,2870,2870,1199,2870	0	14	0	0
chr17	7846865	7846865	-	ACCACCACC	exonic	KDM6B	.	nonframeshift insertion	KDM6B:NM_001080424:exon9:c.758_759insACCACCACC:p.P264_L265insPPP	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.8333	52625.89	54	chr17	7846859	.	TACCACC	TACCACCACCACC,TACCACCACCACCACC,TACCACCACC,T,TACCACCACCACCACCACC	52625.89	.	AC=34,4,2,1,1;AF=0.810,0.095,0.048,0.024,0.024;AN=42;BaseQRankSum=1.36;DP=1924;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=NaN;MLEAC=35,4,1,1,1;MLEAF=0.833,0.095,0.024,0.024,0.024;MQ=59.90;MQRankSum=0.00;QD=26.75;ReadPosRankSum=0.709;SOR=0.555	GT:AD:DP:GQ:PL	1/4:1,28,0,0,40,0:69:99:2752,1633,1593,2767,1683,2870,2767,1683,2870,2870,1085,0,1199,1199,1135,2767,1683,2870,2870,1199,2870	0	14	0	0
chr17	7846865	7846865	-	ACC	exonic	KDM6B	.	nonframeshift insertion	KDM6B:NM_001080424:exon9:c.758_759insACC:p.P264_L265insP	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.8333	52625.89	54	chr17	7846859	.	TACCACC	TACCACCACCACC,TACCACCACCACCACC,TACCACCACC,T,TACCACCACCACCACCACC	52625.89	.	AC=34,4,2,1,1;AF=0.810,0.095,0.048,0.024,0.024;AN=42;BaseQRankSum=1.36;DP=1924;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=NaN;MLEAC=35,4,1,1,1;MLEAF=0.833,0.095,0.024,0.024,0.024;MQ=59.90;MQRankSum=0.00;QD=26.75;ReadPosRankSum=0.709;SOR=0.555	GT:AD:DP:GQ:PL	1/4:1,28,0,0,40,0:69:99:2752,1633,1593,2767,1683,2870,2767,1683,2870,2870,1085,0,1199,1199,1135,2767,1683,2870,2870,1199,2870	0	14	0	0
chr17	7846865	7846865	-	ACCACCACCACC	exonic	KDM6B	.	nonframeshift insertion	KDM6B:NM_001080424:exon9:c.758_759insACCACCACCACC:p.P264_L265insPPPP	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.8333	52625.89	54	chr17	7846859	.	TACCACC	TACCACCACCACC,TACCACCACCACCACC,TACCACCACC,T,TACCACCACCACCACCACC	52625.89	.	AC=34,4,2,1,1;AF=0.810,0.095,0.048,0.024,0.024;AN=42;BaseQRankSum=1.36;DP=1924;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=NaN;MLEAC=35,4,1,1,1;MLEAF=0.833,0.095,0.024,0.024,0.024;MQ=59.90;MQRankSum=0.00;QD=26.75;ReadPosRankSum=0.709;SOR=0.555	GT:AD:DP:GQ:PL	1/4:1,28,0,0,40,0:69:99:2752,1633,1593,2767,1683,2870,2767,1683,2870,2870,1085,0,1199,1199,1135,2767,1683,2870,2870,1199,2870	0	14	0	0
chr17	7849004	7849004	C	G	exonic	KDM6B	.	nonsynonymous SNV	KDM6B:NM_001080424:exon11:c.C2716G:p.P906A	.	.	2	1499	20	1	0	22	0.00728477	.	.	1687257	not_provided|KDM6B-related_disorder	MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.09	T	0.143	B	0.075	B	0.357	N	0.959	N	0.345	N	-1.01	T	-0.797	T	0.242	T	0.18	1.367	10.50	4.0	1.198	1.284	9.716	0.193	0.265455406206	.	.	0.0007	0.0002	0.0009	0	0	0.0011	0.0016	0.0003	0.0005175	80	154602	rs201070294	0.0005	0.0005	0.0004	0.0005	0.0179	0.0004	0.0004	0.0150	0.0140	0.0002	0.0011	0.0005	0	0	0.0179	0.0004	0.0014	0.0004	0.0005	0.0005	0.0005	0.0005	0.0017	0.0004	0.0004	0.0012	0.0010	0.0001	0	0.0017	0.0006	0	0	0.0102	0.0005	0.0024	0.0002	0.0	0.91255	D	0.038	0.51737	D	0.143	0.27649	B	0.075	0.28327	B	0.357459	0.13721	N	0.663448	0.959147	0.26197	N	0.895	0.22405	L	-1.01	0.76168	T	-0.73	0.20576	N	0.32	0.36043	-0.7967	0.55338	T	0.242	0.61071	T	10	0.024675608	0.00687	T	0.265455	0.89674	D	0.193	0.47281	0.099	0.01433	0.174091166621	0.17034	0.16308770333930786	0.16228	0.395040691216	0.40653	0.702491521835	0.67505	T	0.05026	0.28543	T	-0.362194	0.04007	T	-0.338595	0.40504	T	0.0532980907852038	0.06071	T	0.769523	0.39899	T	0.13203031	0.30755	0.16211516	0.37673	0.13203031	0.30755	0.16211516	0.37672	-4.099	0.25379	T	.	.	0.055	0.01179	B	.;.	.;.	3.163897	0.42881	21.6	0.98241591194966893	0.39485	0.57096	0.30287	D	AEFDBI	0.108589	0.21597	N	-0.386024155286318	0.25967	1.413577	-0.239063908512661	0.30149	1.695122	0.90874980318859	0.26293	0.562547	0.31514	0	0.577304	0.33150	0	0.576033	0.28219	0	0.635551	0.53088	0	.	.	5.0	4.0	0.45673	1.689000	0.37319	5.757000	0.49661	0.596000	0.33519	0.246000	0.24809	1.000000	0.68203	0.850000	0.40195	0.1588:0.6877:0.1535:0.0	9.716	0.39440	298	0.88068	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	808.98	33	chr17	7849004	.	C	G	808.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.825e+00;DP=820;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.41;ReadPosRankSum=1.22;SOR=0.643	GT:AD:DP:GQ:PL	0/1:49,37:86:99:823,0,1342	20	0	1	0
chr17	10451410	10451410	T	G	exonic	MYH4	.	nonsynonymous SNV	MYH4:NM_017533:exon28:c.A3781C:p.S1261R,	.	.	437	1046	36	3	0	42	0.0196813	.	.	703935	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.01	D	0.849	P	0.649	P	0.001	U	0.979	D	2.865	M	-1.65	D	0.444	D	0.646	D	0.629	4.172	21.6	5.62	2.263	2.043	11.245	0.607	0.0247948073885	0.0024	0.00239617	0.0032	0.0004	0.0017	0	0.0009	0.0040	0.0066	0.0049	0.0031694	490	154602	rs34610503	0.0036	0.0036	0.0036	0.0037	0.0113	0.0035	0.0035	0.0091	0.0083	0.0004	0.0028	0.0067	2.52e-05	0.0011	0.0113	0.0037	0.0035	0.0061	0.0025	0.0025	0.0025	0.0026	0.0058	0.0023	0.0022	0.0041	0.0036	0.0006	0	0.0042	0.0087	0	0.0007	0	0.0033	0.0062	0.0058	0.002	0.72154	D	0.077	0.42436	T	0.849	0.46879	P	0.649	0.52426	P	0.000505	0.43753	U	0.000000	0.979355	0.39553	D	2.515	0.73286	M	-1.65	0.82625	D	-2.37	0.52289	N	0.587	0.60749	0.444	0.89748	D	0.646	0.87653	D	10	0.017565101	0.00376	T	0.024795	0.47786	T	0.607	0.84559	0.565	0.68633	0.944002009858	0.94341	0.14116267411786126	0.14039	0.190587588975	0.21375	0.56471145153	0.47932	T	0.468192	0.80222	T	-0.2002	0.20777	T	-0.0587076	0.66422	T	0.0515196940533941	0.05765	T	0.850115	0.53348	D	0.19272667	0.40953	0.405725	0.64965	0.19272667	0.40953	0.405725	0.64965	-13.597	0.91673	D	.	.	0.515	0.65265	A	.	.	4.385015	0.67628	25.1	0.998307327270469	0.91284	0.89744	0.50408	D	AEFI	0.493322	0.52958	N	0.520811354633792	0.68320	5.20122	0.500269396938839	0.68008	5.161289	0.00325402333299923	0.10018	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.62	5.62	0.85714	3.247000	0.51123	7.874000	0.72122	0.665000	0.62972	0.995000	0.38783	0.997000	0.33255	0.997000	0.79791	0.1365:0.0:0.0:0.8635	11.245	0.48221	90	0.96275	Myosin tail	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1241.98	34	chr17	10451410	.	T	G	1241.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.941;DP=814;ExcessHet=0.0000;FS=2.393;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.94;ReadPosRankSum=-4.300e-01;SOR=0.991	GT:AD:DP:GQ:PL	0/1:74,51:125:99:1256,0,1935	20	0	1	0
chr17	17147359	17147359	G	A	exonic	MPRIP	.	nonsynonymous SNV	MPRIP:NM_001364716:exon11:c.G1601A:p.R534K	.	.	431	1074	17	0	0	17	0.00785219	.	.	2716962	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.58	T	0.939	P	0.842	P	.	.	1.000	D	0.095	N	-0.92	T	-0.582	T	0.328	T	0.776	4.115	21.2	5.4	2.701	7.751	19.542	0.384	0.0224399987283	0.0003	0.000199681	0.0007	9.614e-05	0.0007	0	0	0.0006	0	0.0023	0.000608	94	154602	rs200990767	0.0005	0.0005	0.0004	0.0006	0.0028	0.0005	0.0005	0.0018	0.0018	0.0001	0.0009	0.0008	0	0	0.0028	0.0004	0.0008	0.0021	0.0005	0.0005	0.0004	0.0005	0.0027	0.0004	0.0003	0.0016	0.0013	2.405e-05	0	0.0007	0.0006	0	0	0	0.0006	0	0.0027	0.341	0.12673	T	0.709	0.13993	T	0.939	0.52645	P	0.842	0.60272	P	.	.	.	.	0.999307	0.46608	D	0.89	0.21648	L	-0.92	0.75108	T	-0.28	0.11547	N	0.441	0.48596	-0.5816	0.65554	T	0.328	0.69631	T	9	0.037644327	0.02132	T	0.02244	0.45329	T	0.384	0.70112	.	.	0.890180543243	0.88909	0.8531674880308365	0.85278	0.631570097891	0.57109	.	.	.	0.250749	0.62089	T	-0.164656	0.26045	T	-0.0151516	0.69348	D	0.0525764673948288	0.05946	T	0.885811	0.61165	D	0.23923945	0.46812	0.2482315	0.50369	0.23923945	0.46811	0.2482315	0.50368	-9.435	0.70454	D	.	.	0.246	0.50527	B	.;.;.	.;.;.	3.637068	0.51552	23.1	0.99509447787367855	0.68558	0.96582	0.69863	D	AEFGBCI	0.919119	0.88917	D	0.306371879108372	0.56475	3.812243	0.444331196750598	0.64353	4.688597	0.999999999808468	0.74766	0.562547	0.31514	0	0.546412	0.12157	0	0.685742	0.62368	0	0.635551	0.53088	0	.	.	5.4	5.4	0.77957	6.710000	0.74492	11.917000	0.99728	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:1.0:0.0	19.542	0.95269	544	0.72685	.;Pleckstrin homology domain|Pleckstrin homology domain|Pleckstrin homology domain|Myosin phosphatase-RhoA interacting protein, PH domain;Pleckstrin homology domain|Pleckstrin homology domain|Pleckstrin homology domain|Myosin phosphatase-RhoA interacting protein, PH domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1269.98	40	chr17	17147359	.	G	A	1269.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.572;DP=872;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.68;ReadPosRankSum=0.00;SOR=0.734	GT:AD:DP:GQ:PL	0/1:32,49:81:99:1284,0,720	20	0	1	0
chr17	17215284	17215284	C	T	exonic	FLCN	.	nonsynonymous SNV	FLCN:NM_144997:exon12:c.G1333A:p.A445T	Birt-Hogg-Dube syndrome, Autosomal dominant;Colorectal cancer, somatic;Pneumothorax, primary spontaneous, Autosomal dominant;Renal carcinoma, chromophobe, somatic	YES	0	1493	28	1	0	30	0.00994695	.	.	18409	not_specified|not_provided|Birt-Hogg-Dube_syndrome|Familial_spontaneous_pneumothorax|Carcinoma_of_colon|Hereditary_cancer-predisposing_syndrome	MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0800444,MedGen:C0346010,OMIM:PS135150,Orphanet:122|MONDO:MONDO:0008259,MedGen:C1868193,OMIM:173600,Orphanet:2903|MONDO:MONDO:0002032,MedGen:C0699790|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.6	T	0.0	B	0.0	B	0.257	N	1.000	N	-1.1	N	-2.99	D	-0.568	T	0.295	T	0.061	1.047	9.277	-7.45	-1.837	-0.036	7.727	0.203	0.0604308747319	0.0019	0.000798722	0.0027	0.0005	0.0013	0	0.0008	0.0037	0.0022	0.0033	0.0026132	404	154602	rs41419545	0.0030	0.0030	0.0029	0.0031	0.0132	0.0029	0.0029	0.0108	0.0099	0.0005	0.0021	0.0024	0	0.0007	0.0132	0.0032	0.0032	0.0040	0.0024	0.0024	0.0025	0.0023	0.0059	0.0022	0.0022	0.0049	0.0045	0.0003	0	0.0059	0.0035	0.0002	0.0005	0.0204	0.0033	0.0043	0.0023	0.87	0.02606	T	0.553	0.09329	T	0.0	0.02946	B	0.0	0.01387	B	0.257102	0.15389	N	0.695908	1	0.08975	N	-1.04	0.01097	N	-2.99	0.92108	D	0.19	0.04947	N	0.205	0.22742	-0.5684	0.66079	T	0.295	0.66640	T	10	0.004835129	0.00103	T	0.060431	0.67999	D	0.203	0.48915	.	.	0.187035705434	0.18338	0.2022582816453621	0.20142	0.356774467599	0.37413	0.292996585369	0.09360	T	0.30576	0.67800	T	-0.477074	0.00770	T	-0.459533	0.26650	T	0.00136713459327549	0.00014	T	0.59684	0.22194	T	0.023952244	0.01180	0.045600146	0.06172	0.03681238	0.04600	0.042168256	0.04959	-3.216	0.12677	T	0.08208204089075731	0.04303	0.064	0.01762	B	.	.	-0.579733	0.01628	0.113	0.74823135621684544	0.10840	0.01028	0.03857	N	AEFDGBI	0.025846	0.01838	N	-1.83791171747947	0.00459	0.01974575	-1.83918489512921	0.00641	0.02852158	0.980657301027315	0.30161	0.706548	0.73137	0	0.702456	0.74545	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	5.66	-7.45	0.01229	-0.032000	0.12217	-3.274000	0.02915	-0.773000	0.03420	0.049000	0.21372	0.000000	0.08366	0.000000	0.00833	0.0:0.2869:0.3329:0.3802	7.727	0.27930	759	0.50631	Folliculin, C-terminal|Folliculin/SMCR8, tripartite DENN domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1652.98	33	chr17	17215284	.	C	T	1652.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.696;DP=882;ExcessHet=0.0000;FS=0.637;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.07;ReadPosRankSum=-3.490e-01;SOR=0.635	GT:AD:DP:GQ:PL	0/1:71,66:137:99:1667,0,1706	20	0	1	0
chr17	17793782	17793782	-	CAG	exonic	RAI1	.	nonframeshift insertion	RAI1:NM_030665:exon3:c.834_835insCAG:p.Q291_A292insQ,	Smith-Magenis syndrome, Autosomal dominant, Isolated cases	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2143	8476.07	194	chr17	17793779	.	CCAG	C,CCAGCAG	8476.07	.	AC=7,2;AF=0.167,0.048;AN=42;BaseQRankSum=0.190;DP=4672;ExcessHet=4.7172;FS=0.000;InbreedingCoeff=-0.3035;MLEAC=7,2;MLEAF=0.167,0.048;MQ=60.00;MQRankSum=0.00;QD=4.69;ReadPosRankSum=0.870;SOR=0.686	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:138,81,0:238:99:.:.:2015,0,3746,2555,4215,8643	12	0	7	0
chr17	18340210	18340210	T	C	exonic	SHMT1	.	nonsynonymous SNV	SHMT1:NM_001281786:exon6:c.A233G:p.K78R	.	.	421	1051	48	2	0	52	0.0241411	.	.	704009	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.02	D	0.053	B	0.06	B	0.000	N	0.990	D	1.4	L	1.38	T	-1.058	T	0.041	T	0.109	3.049	16.18	4.57	1.069	2.682	9.109	0.035	.	0.0071	0.0151757	0.0062	0.0199	0.0084	0.0024	0	0.0021	0.0088	0.0167	0.0060025	928	154602	rs78909145	0.0034	0.0034	0.0029	0.0039	0.0473	0.0033	0.0033	0.0427	0.0409	0.0210	0.0076	0.0036	0.0010	5.617e-05	0.0473	0.0013	0.0075	0.0184	0.0081	0.0082	0.0081	0.0082	0.0201	0.0078	0.0076	0.0175	0.0170	0.0185	0	0.0097	0.0061	0.0039	0	0.0374	0.0021	0.0137	0.0201	0.038	0.44358	D	0.043	0.49942	D	0.004	0.22573	B	0.021	0.26717	B	0.000068	0.52346	N	0.206980	0.99021	0.41111	D	1.33	0.33268	L	1.38	0.34050	T	-1.21	0.32791	N	0.151	0.16864	-1.0582	0.12209	T	0.041	0.17827	T	10	0.014129251	0.00298	T	.	.	.	0.035	0.08770	.	.	0.528210255337	0.52467	0.4474451742756085	0.44662	0.152257239178	0.17183	0.435752749443	0.29996	T	0.14153	0.47664	T	-0.557501	0.00263	T	-0.557993	0.16564	T	0.0134239098633414	0.00244	T	0.906609	0.67118	D	0.36433715	0.58164	0.21635857	0.46260	0.36433715	0.58164	0.21635857	0.46259	-6.233	0.50171	T	.	.	0.076	0.06159	B	.;.;.	.;.;.	2.220564	0.28336	17.76	0.9970165076275801	0.80660	0.93487	0.58350	D	AEFGBI	0.453719	0.50673	N	-0.124629802319406	0.36321	2.097945	0.0240949506191221	0.40837	2.443514	0.026629716599066	0.13724	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.65	4.57	0.55860	2.194000	0.42301	2.331000	0.32195	0.661000	0.55757	1.000000	0.71638	1.000000	0.68203	0.914000	0.44937	0.0:0.1416:0.0:0.8584	9.109	0.35876	569	0.70546	.;Serine hydroxymethyltransferase-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	0.02381	2484.98	33	chr17	18340210	.	T	C	2484.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.335e+00;DP=885;ExcessHet=0.0000;FS=2.560;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.36;ReadPosRankSum=-1.296e+00;SOR=0.530	GT:AD:DP:GQ:PL	0/1:86,100:186:99:2499,0,2240	20	0	1	0
chr17	18727721	18727721	C	G	exonic	TRIM16L	.	nonsynonymous SNV	TRIM16L:NM_001037330:exon2:c.C164G:p.T55R	.	.	420	1086	16	0	0	16	0.00731261	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.37	T	0.0	B	0.001	B	0.002	N	0.999	N	-1.935	N	-0.19	T	-0.965	T	0.042	T	0.391	-2.598	0	-0.19	-0.093	0.883	5.229	0.177	0.00172076807055	.	.	0.0016	0.0015	0.0006	0.0016	0	0.0011	0.0022	0.0045	0.0001552	24	154602	rs141461321	0.0013	0.0063	0.0012	0.0014	0.0039	0.0012	0.0012	0.0035	0.0034	0.0013	0.0015	0.0015	0.0013	0.0008	0.0025	0.0011	0.0016	0.0039	0.0019	0.0058	0.0019	0.0019	0.0061	0.0017	0.0016	0.0044	0.0038	0.0018	0	0.0014	0.0012	0.0017	0.0007	0.0035	0.0020	0.0019	0.0061	0.825	0.02921	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.002110	0.37227	N	0.217758	0.998546	0.22085	N	-1.78	0.00307	N	-0.2	0.66113	T	2.48	0.00239	N	0.201	0.22228	-0.9648	0.38250	T	0.042	0.18202	T	10	0.0036156476	0.00066	T	0.001721	0.02882	T	0.177	0.44549	.	.	0.202086224978	0.19791	0.1393852053865787	0.13861	.	.	0.456749379635	0.32865	T	0.003461	0.02869	T	-0.436533	0.01355	T	-0.3961	0.33837	T	0.000294664280465911	0.00002	T	0.211279	0.02560	T	0.04591656	0.07598	0.050596133	0.07975	0.04591656	0.07597	0.050596133	0.07974	-2.14	0.03759	T	.	.	0.056	0.00452	B	.	.	0.625809	0.09942	6.700	0.099271237724245051	0.00113	0.09050	0.14882	N	AEFDBHI	0.027810	0.02338	N	-1.43114065351808	0.02369	0.1045401	-1.2835337126089	0.04653	0.2199606	0.0820785034427064	0.15891	0.706298	0.61202	0	0.633656	0.55848	0	0.659464	0.59346	0	0.613276	0.41899	0	.	.	3.25	-0.19	0.12605	0.931000	0.28471	2.231000	0.31532	-1.077000	0.01579	0.778000	0.29449	1.000000	0.68203	0.082000	0.17360	0.2155:0.1701:0.6144:0.0	5.229	0.14734	788	0.46569	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.04762	310.11	235	chr17	18727721	.	C	G	310.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=7.21;DP=1670;ExcessHet=0.1072;FS=0.000;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=55.97;MQRankSum=-7.635e+00;QD=0.60;ReadPosRankSum=-9.970e-01;SOR=0.622	GT:AD:DP:GQ:PL	0/1:263,29:292:99:101,0,6614	19	0	2	0
chr17	18772489	18772489	C	T	exonic	FBXW10	.	nonsynonymous SNV	FBXW10:NM_001267586:exon11:c.C1925T:p.T642M	.	.	430	1073	14	5	0	24	0.0110599	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09	T	0.833	P	0.109	B	0.015	U	1.000	N	0	N	0.4	T	-0.991	T	0.046	T	0.098	0.915	8.725	-5.49	-0.586	-0.375	2.437	0.060	.	0.0071	0.00119808	0.0074	0.0016	0.0040	0.0001	0.0065	0.0112	0.0132	0.0021	0.0069663	1077	154602	rs150329747	0.0087	0.0088	0.0089	0.0086	0.0101	0.0086	0.0086	0.0099	0.0099	0.0018	0.0036	0.0137	0.0002	0.0060	0.0049	0.0101	0.0081	0.0019	0.0065	0.0065	0.0071	0.0059	0.0109	0.0061	0.0060	0.0102	0.0100	0.0018	0.0044	0.0024	0.0153	0	0.0047	0.0034	0.0109	0.0052	0.0027	0.097	0.31088	T	0.105	0.38160	T	0.53	0.46172	P	0.035	0.31370	B	0.014875	0.01402	U	4.344430	1	0.08975	N	0	0.06538	N	0.35	0.59983	T	-1.29	0.35597	N	0.161	0.23884	-0.9906	0.32449	T	0.046	0.19559	T	10	0.005772084	0.00129	T	.	.	.	0.060	0.17295	.	.	0.0138822411134	0.00435	0.18173062683297633	0.18092	.	.	0.297576367855	0.10041	T	0.003381	0.02788	T	-0.602469	0.00141	T	-0.627793	0.10582	T	0.00719906712202938	0.00082	T	0.423358	0.11306	T	0.01666958	0.00214	0.027029827	0.00827	0.01666958	0.00213	0.027029827	0.00827	-5.048	0.37357	T	.	.	0.078	0.06803	B	.;.;.	.;.;.	0.066611	0.04760	1.382	0.84772125039404311	0.15488	0.02753	0.07439	N	AEFBI	0.054084	0.09803	N	-1.37356261184012	0.02887	0.1281773	-1.49044872290491	0.02422	0.1113722	8.42159322340843E-5	0.04703	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	4.61	-5.49	0.02381	-0.561000	0.06048	0.033000	0.13759	-2.022000	0.00435	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1019:0.2949:0.1678:0.4353	2.437	0.04212	735	0.53711	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	899.98	33	chr17	18772489	.	C	T	899.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.337;DP=746;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.25;ReadPosRankSum=-7.230e-01;SOR=0.610	GT:AD:DP:GQ:PL	0/1:23,36:59:99:914,0,503	20	0	1	0
chr17	19412596	19412596	G	A	exonic	RNF112	.	nonsynonymous SNV	RNF112:NM_007148:exon3:c.G194A:p.R65H,	.	.	395	1121	6	0	0	6	0.00266904	.	.	2386210	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.283377846409	0.0003	0.000399361	0.0004	0.0001	0	0	0.0009	0.0006	0	0.0003	0.0003558	55	154602	rs201611770	0.0004	0.0004	0.0003	0.0004	0.0004	0.0003	0.0003	0.0003	0.0003	0.0002	2.239e-05	0.0010	0	0.0010	0	0.0004	0.0005	0.0002	0.0003	0.0003	0.0003	0.0003	0.0004	0.0002	0.0002	0.0003	0.0003	7.23e-05	0	0	0.0006	0	0.0008	0	0.0004	0.0014	0.0002	0.095	0.31235	T	0.019	0.59159	D	0.011	0.15914	B	0.003	0.08700	B	.	.	.	.	1	0.08975	N	0.56	0.15190	N	3.16	0.86146	T	-1.69	0.40274	N	0.294	0.33250	.	.	.	.	.	.	.	0.06426346	0.08498	T	0.283378	0.90310	D	.	.	.	.	0.922216962878	0.92143	0.3186225038037663	0.31775	0.418609216857	0.42446	0.56143450737	0.47470	T	0.408137	0.76355	T	-0.330257	0.06092	T	-0.311923	0.43453	T	.	.	.	0.789521	0.42989	T	0.049536426	0.08809	0.057324916	0.10402	0.049536426	0.08809	0.057324916	0.10401	-9.028	0.67877	D	.	.	0.096	0.15564	B	.;.	.;.	2.606212	0.33840	19.46	0.99465171745771475	0.66049	0.00749	0.03116	N	AEFDBI	0.031588	0.03409	N	.	.	.	.	.	.	0.00158435717253497	0.08668	0.615465	0.37627	0	0.59043	0.45803	0	0.658983	0.55881	0	0.542086	0.14980	0	.	.	5.1	2.84	0.32241	0.019000	0.13337	2.220000	0.31442	0.676000	0.76740	0.000000	0.06391	0.059000	0.21998	0.982000	0.59238	0.4451:0.0:0.5549:0.0	4.757	0.12464	744	0.52588	Zinc finger, C3HC4 RING-type|Zinc finger, RING-type|Zinc finger, RING-type;Zinc finger, C3HC4 RING-type|Zinc finger, RING-type|Zinc finger, RING-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1708.98	33	chr17	19412596	.	G	A	1708.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.712;DP=823;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.35;ReadPosRankSum=-6.500e-02;SOR=0.671	GT:AD:DP:GQ:PL	0/1:58,70:128:99:1723,0,1266	20	0	1	0
chr17	19556021	19556021	G	A	exonic	SLC47A1	.	nonsynonymous SNV	SLC47A1:NM_018242:exon10:c.G880A:p.A294T,	.	.	425	1084	13	0	0	13	0.00596057	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.998	D	0.924	D	0.000	D	1.000	D	2.39	M	0.69	T	-0.421	T	0.309	T	0.874	5.169	32	5.54	2.602	4.953	18.482	0.391	0.00982123049051	.	0.000399361	0.0004	0	0.0003	0.0001	0	5.996e-05	0	0.0025	0.0003363	52	154602	rs563267554	0.0002	0.0002	0.0001	0.0003	0.0023	0.0002	0.0002	0.0021	0.0020	5.974e-05	0.0002	0	2.519e-05	0	0.0021	3.417e-05	0.0003	0.0023	0.0002	0.0002	0.0001	0.0002	0.0033	0.0001	0.0001	0.0021	0.0017	0	0	0.0002	0	0	0	0	8.821e-05	0.0005	0.0033	0.043	0.72154	D	0.005	0.79402	D	0.998	0.73220	D	0.899	0.65913	P	0.000000	0.84330	D	0.047729	0.999757	0.81001	D	2.325	0.66631	M	0.69	0.51714	T	-3.71	0.71397	D	0.799	0.79503	-0.4206	0.71373	T	0.309	0.67922	T	10	0.03247279	0.01400	T	0.009821	0.25608	T	0.391	0.70684	.	.	0.503744809241	0.50012	0.34828586287911073	0.34742	0.676230404005	0.59750	0.470068246126	0.34689	T	0.042113	0.72332	T	-0.0938739	0.37437	T	0.0871427	0.76054	D	0.116827600588266	0.14117	T	0.915108	0.70943	D	0.64562225	0.75130	0.73879474	0.84561	0.64562225	0.75131	0.73879474	0.84562	-8.561	0.64832	D	.	.	0.225	0.45726	B	.;.;.;.	.;.;.;.	4.651044	0.74135	26.1	0.99935201548179953	0.99579	0.96624	0.70078	D	AEFBI	0.838485	0.75600	D	0.732492398779477	0.81761	7.598788	0.722333312599581	0.84074	8.191972	0.999706608641801	0.41986	0.638212	0.43195	0	0.610034	0.51514	0	0.658983	0.55881	0	0.668105	0.65232	0	.	.	5.54	5.54	0.82907	4.255000	0.58595	6.320000	0.55443	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.928000	0.46473	0.0:0.0:1.0:0.0	18.482	0.90766	617	0.66297	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.07143	3128.66	43	chr17	19556021	.	G	A	3128.66	.	AC=3;AF=0.071;AN=42;BaseQRankSum=0.566;DP=889;ExcessHet=0.0000;FS=1.484;InbreedingCoeff=0.6410;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=20.32;ReadPosRankSum=-1.338e+00;SOR=0.916	GT:AD:DP:GQ:PL	0/1:48,45:93:99:1259,0,1244	19	1	1	0
chr17	31230283	31230283	T	C	exonic	NF1	.	nonsynonymous SNV	NF1:NM_000267:exon23:c.T3014C:p.M1005T	Leukemia, juvenile myelomonocytic, Autosomal dominant, Somatic mutation;Neurofibromatosis, familial spinal, Autosomal dominant;Neurofibromatosis, type 1, Autosomal dominant;Neurofibromatosis-Noonan syndrome, Autosomal dominant;Watson syndrome, Autosomal dominant	YES	.	.	.	.	.	.	.	.	.	478133	Juvenile_myelomonocytic_leukemia|Neurofibromatosis,_type_1|NF1-related_disorder|Cardiovascular_phenotype|Hereditary_cancer-predisposing_syndrome	Human_Phenotype_Ontology:HP:0012209,MONDO:MONDO:0011908,MedGen:C0349639,OMIM:607785,Orphanet:86834|MONDO:MONDO:0018975,MedGen:C0027831,OMIM:162200,Orphanet:636|.|MedGen:CN230736|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	1	T	0.001	B	0.004	B	0.001	D	1.000	D	-2.175	N	3.55	T	-0.927	T	0.005	T	0.351	-0.207	2.995	5.46	2.062	5.937	15.527	0.184	0.0301372825576	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	1.0	0.01155	T	0.0	0.07471	B	0.0	0.10090	B	0.000637	0.42799	D	0.270437	0.995667	0.42797	D	-2.005	0.00192	N	3.41	0.06845	T	-0.11	0.08653	N	0.499	0.53181	-0.9266	0.44630	T	0.005	0.01833	T	10	0.051322848	0.04996	T	0.030137	0.52511	D	0.184	0.45763	0.598	0.72862	0.174091166621	0.17034	0.26756447935726063	0.26669	0.794837845557	0.65999	0.756662070751	0.75433	T	0.371385	0.73576	T	-0.167282	0.25647	T	-0.478065	0.24652	T	0.414437055587769	0.29484	T	0.852415	0.53747	D	0.09707384	0.22875	0.13054675	0.31366	0.09707384	0.22875	0.13054675	0.31365	-5.647	0.43219	T	0.03767598561740011	0.00259	0.072	0.04356	B	.;.;.	.;.;.	2.634552	0.34263	19.58	0.51136579761178647	0.04508	0.95922	0.66735	D	AEFGBI	0.610847	0.59951	D	-0.563821335834389	0.20052	1.054245	-0.212765148747512	0.31076	1.755419	0.444172701715889	0.20480	0.732398	0.92422	0	0.653731	0.59785	0	0.65145	0.50148	0	0.727631	0.95156	0	.	.	5.46	5.46	0.80021	5.918000	0.69728	7.940000	0.75441	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:0.0:1.0	15.527	0.75650	688	0.59122	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.02381	887.98	37	chr17	31230283	.	T	C	887.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.01;DP=821;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.06;ReadPosRankSum=0.511;SOR=0.664	GT:AD:DP:GQ:PL	0/1:60,38:98:99:902,0,1507	20	0	1	0
chr17	31305557	31305557	G	C	exonic	EVI2B	.	nonsynonymous SNV	EVI2B:NM_006495:exon2:c.C53G:p.T18R,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.899	P	0.667	P	0.296	N	1.000	N	2.075	M	0.71	T	-0.883	T	0.169	T	0.563	0.709	7.778	-1.6	-0.422	-0.225	8.960	0.167	0.0279716985146	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.007	0.59928	D	0.009	0.66756	D	0.899	0.49514	P	0.667	0.53020	P	0.296132	0.14681	N	0.567108	1	0.08975	N	1.445	0.36358	L	0.71	0.51228	T	-4.04	0.74427	D	0.332	0.39659	-0.8834	0.49489	T	0.169	0.50923	T	10	0.23708972	0.40803	T	0.027972	0.50711	D	0.167	0.42761	.	.	0.5732715451	0.56994	0.6092105966567839	0.60853	0.254832840394	0.28066	0.291024386883	0.09071	T	0.087546	0.37967	T	-0.0860171	0.38730	T	-0.361334	0.37898	T	0.434924453496933	0.30242	T	0.437256	0.12012	T	0.26918203	0.49990	0.24307568	0.49743	0.26918203	0.49990	0.24307568	0.49742	-4.781	0.34369	T	.	.	0.115	0.23041	B	.;.	.;.	-0.121336	0.03515	0.666	0.91566653993582614	0.20845	0.07588	0.13599	N	AEFGBI	0.068862	0.13603	N	-0.395518325587869	0.25628	1.39262	-0.630082265985883	0.18722	1.001389	0.997372524262003	0.35551	0.67177	0.52595	0	0.702456	0.74545	0	0.573888	0.23631	0	0.655142	0.61905	0	.	.	5.24	-1.6	0.07977	-0.240000	0.08970	-0.214000	0.10826	-0.103000	0.15852	0.000000	0.06391	0.000000	0.08366	0.486000	0.28701	0.4885:0.0:0.5115:0.0	8.960	0.34999	792	0.45996	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1910.98	33	chr17	31305557	.	G	C	1910.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.364;DP=876;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.94;ReadPosRankSum=1.19;SOR=0.654	GT:AD:DP:GQ:PL	0/1:81,79:160:99:1925,0,2031	20	0	1	0
chr17	35475054	35475054	C	T	exonic	SLFN12L	.	nonsynonymous SNV	SLFN12L:NM_001195790:exon4:c.G1636A:p.A546T	.	.	428	1093	1	0	0	1	0.000457247	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.79	T	0.0	B	0.0	B	.	.	1.000	N	-1.7	N	3.98	T	-0.910	T	0.002	T	0.09	-1.594	0.014	-3.75	-0.324	0.799	2.148	0.020	0.00561416071454	.	.	1.108e-05	0	0	0	0	0	0	7.091e-05	6.5e-06	1	154602	rs775162288	7.53e-06	7.524e-06	4.086e-06	1.101e-05	0.0003	4.04e-06	2.95e-06	6.092e-05	2.521e-05	0	0	0	0.0001	0	0.0003	2.699e-06	1.657e-05	1.161e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	0.749	0.04825	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	-1.625	0.00404	N	3.88	0.03570	T	1.29	0.00961	N	0.016	0.00825	-0.9101	0.46842	T	0.002	0.00769	T	9	0.033647925	0.01547	T	0.005614	0.14500	T	0.020	0.03691	0.311	0.28451	0.0297737177859	0.01360	0.035600341224200346	0.03507	0.0224440031775	0.02262	0.298321098089	0.10152	T	0.021524	0.16743	T	-0.503071	0.00549	T	-0.787945	0.02222	T	0.0374341013083211	0.03232	T	0.471453	0.13989	T	0.020795846	0.00651	0.051301695	0.08229	0.020795846	0.00651	0.051301695	0.08228	-3.34	0.14936	T	.	.	0.065	0.02894	B	.;.;.	.;.;.	-0.809414	0.01089	0.048	0.12417631336787031	0.00215	0.00013	0.00170	N	AEFBI	0.012707	0.00146	N	-1.86752635266097	0.00400	0.01719953	-1.85352816135926	0.00603	0.02677052	0.0265700625037906	0.13720	0.562547	0.31514	0	0.653731	0.59785	0	0.573888	0.23631	0	0.530356	0.10902	0	.	.	2.15	-3.75	0.04087	0.158000	0.16239	-6.906000	0.01277	-2.281000	0.00328	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.478:0.1735:0.0:0.3484	2.148	0.03561	240	0.90628	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	3983.98	52	chr17	35475054	.	C	T	3983.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.687e+00;DP=1159;ExcessHet=0.0000;FS=3.279;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.91;ReadPosRankSum=0.062;SOR=0.932	GT:AD:DP:GQ:PL	0/1:232,170:402:99:3998,0,6058	20	0	1	0
chr17	37257713	37257713	C	T	exonic	ACACA	.	nonsynonymous SNV	ACACA:NM_198837:exon12:c.G1531A:p.E511K	Acetyl-CoA carboxylase deficiency, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.23	T	0.796	P	0.741	P	0.000	D	1.000	D	1.91	M	-1.57	D	0.107	D	0.637	D	0.898	4.574	24.8	5.93	2.826	7.818	19.342	0.692	0.0171503242482	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.439	0.17696	T	0.746	0.44790	P	0.557	0.55725	P	0.000000	0.84330	D	0.000000	1	0.81001	D	1.885	0.50048	L	.	.	.	.	.	.	0.862	0.85872	0.107	0.84300	D	0.637	0.87289	D	10	0.7375028	0.74723	D	0.01715	0.38730	T	.	.	0.467	0.53891	0.877869702975	0.87668	0.9836152231955558	0.98353	.	.	0.872255206108	0.92889	D	0.780159	0.94189	D	0.432308	0.91648	D	0.383204	0.91545	D	0.977236747741699	0.71748	D	.	.	.	0.81459284	0.84857	0.6431959	0.79147	0.81459284	0.84859	0.6431959	0.79148	-9.549	0.74745	D	.	.	0.857	0.80134	P	.;.;.;.	.;.;.;.	5.294357	0.88888	29.8	0.9986442591158583	0.94276	0.98597	0.84519	D	AEFBI	0.820385	0.74119	D	0.627107990343815	0.74894	6.211086	0.69699622420893	0.82148	7.696462	0.999999997971713	0.74766	0.732398	0.92422	0	0.653731	0.59785	0	0.743671	0.96076	0	0.733575	0.97253	0	.	.	5.93	5.93	0.95888	7.905000	0.86479	7.642000	0.63248	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:1.0:0.0:0.0	19.342	0.94335	689	0.59000	.;.;Biotin carboxylase, C-terminal|Biotin carboxylation domain|Biotin carboxylase, C-terminal;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.5	12960.74	97	chr17	37257713	.	C	T	12960.74	.	AC=21;AF=0.500;AN=42;BaseQRankSum=0.586;DP=2083;ExcessHet=54.0936;FS=453.130;InbreedingCoeff=-1.0000;MLEAC=21;MLEAF=0.500;MQ=60.00;MQRankSum=0.00;QD=6.37;ReadPosRankSum=-7.710e-01;SOR=14.039	GT:AD:DP:GQ:PL	0/1:54,54:108:99:588,0,629	0	0	21	0
chr17	39139772	39139772	C	T	exonic	PLXDC1	.	nonsynonymous SNV	PLXDC1:NM_020405:exon2:c.G137A:p.R46Q,	.	.	431	1010	74	7	0	88	0.0417457	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07	T	0.059	B	0.005	B	0.233	N	1.000	N	1.445	L	1.73	T	-1.047	T	0.037	T	0.39	2.048	12.80	2.28	0.256	1.236	8.207	0.051	.	0.0038	0.00459265	0.0061	0.0002	0.0029	0	0.0018	0.0058	0.0056	0.0184	0.0058473	904	154602	rs114297422	0.0056	0.0056	0.0051	0.0061	0.0206	0.0055	0.0054	0.0198	0.0195	0.0010	0.0030	0.0033	0.0001	0.0016	0.0167	0.0050	0.0058	0.0206	0.0039	0.0039	0.0035	0.0043	0.0180	0.0036	0.0035	0.0150	0.0138	0.0011	0	0.0031	0.0032	0	0.0009	0.0272	0.0054	0.0061	0.0180	0.055	0.38407	T	0.094	0.39645	T	0.059	0.23051	B	0.005	0.11217	B	0.232671	0.15885	N	0.601257	0.999999	0.58761	D	0.975	0.24501	L	1.73	0.26445	T	-0.69	0.19720	N	0.244	0.27554	-1.0467	0.15332	T	0.037	0.15856	T	10	0.004303634	0.00087	T	.	.	.	0.051	0.14325	.	.	0.165133752707	0.16062	0.6866628743073893	0.68606	0.284527100809	0.30878	0.291070669889	0.09079	T	0.031442	0.22043	T	-0.487807	0.00668	T	-0.459197	0.26686	T	0.00815488066898947	0.00097	T	0.719828	0.33277	T	0.06779414	0.14714	0.061835237	0.12003	0.06779414	0.14713	0.061835237	0.12003	-5.071	0.37600	T	.	.	0.077	0.06387	B	.	.	2.135049	0.27187	17.38	0.98563645269021194	0.43012	0.57490	0.30390	D	AEFDGBI	0.160191	0.28609	N	-0.316103479187463	0.28536	1.574781	-0.211860713090262	0.31109	1.757539	0.998561059899863	0.37206	0.615465	0.37627	0	0.573888	0.26702	0	0.658983	0.55881	0	0.542086	0.14980	0	.	.	5.39	2.28	0.27583	0.853000	0.27431	1.690000	0.28065	-0.177000	0.10537	0.885000	0.31090	1.000000	0.68203	0.170000	0.20979	0.0:0.7751:0.0:0.2249	8.207	0.30619	591	0.68823	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1148.98	42	chr17	39139772	.	C	T	1148.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.82;DP=799;ExcessHet=0.0000;FS=1.678;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.97;ReadPosRankSum=-1.019e+00;SOR=0.530	GT:AD:DP:GQ:PL	0/1:52,44:96:99:1163,0,1181	20	0	1	0
chr17	41046948	41046948	G	A	exonic	KRTAP2-1	.	nonsynonymous SNV	KRTAP2-1:NM_001123387:exon1:c.C320T:p.P107L,	.	.	408	1109	5	0	0	5	0.00224921	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.52	T	0.997	D	0.953	D	0.215	U	1.000	D	1.645	L	.	.	-0.758	T	0.301	T	0.484	2.368	13.88	5.9	2.784	2.682	15.756	0.215	.	.	.	0.0014	0	0	0.0324	0	0.0006	0	0.0010	0.000194	30	154602	rs758057297	0.0026	0.0029	0.0026	0.0026	0.0250	0.0025	0.0025	0.0237	0.0231	0.0003	0.0005	0	0.0250	0.0012	0	0.0019	0.0059	0.0028	0.0014	0.0025	0.0014	0.0014	0.0155	0.0013	0.0012	0.0127	0.0117	0.0004	0	0.0009	0	0.0155	0.0013	0	0.0011	0.0028	0.0023	0.069	0.35537	T	0.443	0.13215	T	0.997	0.70673	D	0.953	0.69275	D	0.215353	0.16266	U	0.452247	0.999903	0.81001	D	2.255	0.64187	M	.	.	.	-2.52	0.54702	D	0.311	0.35088	-0.7577	0.57530	T	0.301	0.67214	T	9	0.008191884	0.00186	T	.	.	.	0.215	0.50805	.	.	0.298056030225	0.29408	0.07788339365551367	0.07724	.	.	0.613914132118	0.54869	T	0.004898	0.04322	T	-0.334133	0.05805	T	-0.239762	0.50821	T	0.023191829902124	0.01046	T	.	.	.	0.096621044	0.22762	0.12726402	0.30638	0.096621044	0.22761	0.12726402	0.30637	-4.365	0.29078	T	.	.	0.349	0.56520	A	.	.	3.469303	0.48388	22.6	0.99274413625361901	0.57661	0.61219	0.31421	D	AEFBI	0.315668	0.42018	N	0.547804919559583	0.69948	5.430258	0.578112884502094	0.73372	5.959914	0.578160121215075	0.21548	0.525926	0.21836	0	0.563428	0.19063	0	0.615948	0.41167	0	0.530356	0.10902	0	.	.	5.9	5.9	0.94952	1.800000	0.38469	4.506000	0.43629	0.618000	0.50648	0.998000	0.41325	1.000000	0.68203	0.982000	0.59238	0.0:0.0:1.0:0.0	15.756	0.77798	420	0.81451	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	354.98	35	chr17	41046948	.	G	A	354.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.649;DP=842;ExcessHet=0.0000;FS=1.094;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=53.65;MQRankSum=0.090;QD=4.13;ReadPosRankSum=-3.400e-01;SOR=0.491	GT:AD:DP:GQ:PL	0/1:68,18:86:99:369,0,2004	20	0	1	0
chr17	41379113	41379113	C	T	exonic	KRT34	.	nonsynonymous SNV	KRT34:NM_021013:exon6:c.G1066A:p.V356M,	.	.	412	1108	1	1	0	3	0.00135196	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.81	T	0.024	B	0.062	B	0.009	N	0.985	N	-1.135	N	.	.	-0.984	T	0.006	T	0.157	-1.793	0.010	0.759	0.272	-1.954	4.095	0.024	.	.	0.00579073	0.0024	0	8.637e-05	0.0302	0	0.0002	0.0011	0.0011	0.0022251	344	154602	rs148645199	0.0009	0.0009	0.0010	0.0009	0.0276	0.0009	0.0009	0.0262	0.0257	0	4.472e-05	0.0031	0.0276	0	0.0002	1.888e-05	0.0013	0.0010	0.0010	0.0010	0.0010	0.0010	0.0257	0.0009	0.0008	0.0221	0.0208	0	0	0	0.0029	0.0257	0	0	4.41e-05	0	0.0012	.	.	.	0.555	0.09267	T	0.024	0.19075	B	0.062	0.26930	B	0.009278	0.30438	N	0.234157	0.985026	0.24748	N	-0.95	0.01262	N	-2.48	0.89071	D	.	.	.	0.229	0.25745	-0.9838	0.34116	T	0.006	0.02206	T	9	0.008939803	0.00202	T	.	.	.	0.024	0.04979	.	.	0.255777322467	0.25185	0.10690974598968886	0.10620	0.0552089449468	0.06109	0.46092659235	0.33437	T	0.110092	0.42451	T	-0.449949	0.01130	T	-0.396784	0.33759	T	0.00646675409805137	0.00072	T	0.762924	0.38892	T	0.028923761	0.02306	0.04457378	0.05806	0.028923761	0.02306	0.04457378	0.05805	-5.001	0.36851	T	.	.	0.182	0.39477	B	.	.	-1.250542	0.00482	0.010	0.073145266585711813	0.00039	0.10519	0.16003	N	AEFDGBI	0.054249	0.09847	N	-1.38998069614707	0.02731	0.1210226	-1.24328460578461	0.05231	0.248761	0.00949678406048289	0.11864	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	5.05	0.759	0.17584	-1.510000	0.02366	-15.051000	0.00374	-0.820000	0.02968	0.000000	0.06391	0.000000	0.08366	0.049000	0.15107	0.1592:0.4544:0.0:0.3864	4.095	0.09460	164	0.93620	Intermediate filament, rod domain|Intermediate filament, rod domain|Intermediate filament, rod domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	5949.11	33	chr17	41379113	.	C	T	5949.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-6.070e-01;DP=1182;ExcessHet=0.1072;FS=1.101;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=59.87;MQRankSum=-9.700e-01;QD=11.80;ReadPosRankSum=1.53;SOR=0.590	GT:AD:DP:GQ:PL	0/1:178,187:365:99:4613,0,4560	19	0	2	0
chr17	41489795	41489795	C	T	exonic	KRT36	.	nonsynonymous SNV	KRT36:NM_003771:exon1:c.G70A:p.G24S,	.	.	423	1093	5	1	0	7	0.00319197	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.016	B	0.012	B	0.472	N	0.931	N	0.405	N	-1.62	D	-0.871	T	0.285	T	0.172	0.565	7.051	0.224	-0.075	-1.709	9.211	0.056	0.0404200256829	0.0009	0.000599042	0.0010	0.0003	0.0010	0	0.0002	0.0012	0.0011	0.0019	0.000925	143	154602	rs143124390	0.0014	0.0014	0.0013	0.0015	0.0030	0.0013	0.0013	0.0027	0.0026	0.0003	0.0010	3.826e-05	2.519e-05	9.403e-05	0.0017	0.0015	0.0011	0.0030	0.0010	0.0010	0.0011	0.0008	0.0025	0.0008	0.0008	0.0014	0.0011	0.0004	0	0.0013	0	0.0002	0	0	0.0014	0	0.0025	0.175	0.22400	T	0.087	0.40747	T	0.016	0.17332	B	0.012	0.16012	B	0.471772	0.12269	N	0.658399	1	0.27047	N	1.09	0.27330	L	-1.62	0.82347	D	-0.28	0.11547	N	0.132	0.12770	-0.8709	0.50462	T	0.285	0.65645	T	9	0.006036967	0.00136	T	0.04042	0.59364	D	0.056	0.15993	.	.	0.239901079897	0.23603	0.26255810240433175	0.26168	0.198595925975	0.22241	0.25968965888	0.04854	T	0.016346	0.13527	T	-0.437589	0.01336	T	-0.408606	0.32387	T	0.00243039995616962	0.00025	T	0.523348	0.17107	T	0.03797756	0.04970	0.051133092	0.08168	0.03797756	0.04970	0.051133092	0.08167	-3.261	0.13239	T	.	.	0.074	0.04975	B	.	.	0.690727	0.10591	7.298	0.94154793855850527	0.24356	0.03535	0.08727	N	AEFBI	0.049906	0.08670	N	-1.03809722429719	0.07823	0.364739	-1.04664946001479	0.08777	0.4332067	0.906094242017019	0.26222	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	4.49	0.224	0.14572	-0.354000	0.07731	-0.779000	0.07463	0.599000	0.40250	0.001000	0.13787	0.000000	0.08366	0.149000	0.20271	0.0:0.5323:0.0:0.4677	9.211	0.36479	438	0.80235	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1409.98	37	chr17	41489795	.	C	T	1409.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.510e-01;DP=945;ExcessHet=0.0000;FS=1.506;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.37;ReadPosRankSum=0.890;SOR=0.912	GT:AD:DP:GQ:PL	0/1:56,58:114:99:1424,0,1409	20	0	1	0
chr17	42788328	42788328	G	A	exonic	WNK4	.	nonsynonymous SNV	WNK4:NM_001321299:exon9:c.G953A:p.G318E	Pseudohypoaldosteronism, type IIB, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.24	T	0.96	D	0.59	P	0.000	D	0.900	D	1.245	L	1.5	T	-1.035	T	0.093	T	0.573	3.738	18.98	5.35	2.520	2.686	17.830	0.099	0.013362740259	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.841e-07	6.84e-07	1.361e-06	0	1.159e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.159e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.138	0.25873	T	0.247	0.23914	T	0.868	0.47740	P	0.23	0.38212	B	0.000190	0.48115	D	0.000000	0.89957	0.36139	D	1.61	0.41143	L	1.5	0.31205	T	-2.32	0.51478	N	0.363	0.40465	-1.0354	0.18731	T	0.093	0.35417	T	10	0.31273898	0.48731	T	0.013363	0.32703	T	0.099	0.28413	0.198	0.11110	0.49382923527	0.49017	0.2583806040157493	0.25752	0.216627793868	0.24185	0.539783895016	0.44415	T	0.269029	0.64119	T	-0.0955518	0.37161	T	-0.37503	0.36302	T	0.903034687042236	0.55614	D	0.949005	0.80370	D	0.29080442	0.52067	0.38409656	0.63358	0.29080442	0.52067	0.38409656	0.63358	-10.327	0.75846	D	.	.	0.199	0.42215	B	.	.	3.220445	0.43878	21.8	0.99674488718507281	0.78846	0.83712	0.42812	D	AEFBI	0.340345	0.43719	N	0.300994126729665	0.56201	3.784368	0.366308564435378	0.59496	4.127964	0.838350891325081	0.24820	0.516011	0.20929	0	0.588066	0.40923	0	0.576033	0.28219	0	0.586402	0.36253	0	.	.	5.35	5.35	0.76297	3.024000	0.49358	9.924000	0.82528	0.665000	0.62972	0.998000	0.41325	1.000000	0.68203	0.981000	0.58702	0.0:0.0:1.0:0.0	17.830	0.88591	239	0.90673	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1734.98	34	chr17	42788328	.	G	A	1734.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.91;DP=916;ExcessHet=0.0000;FS=0.587;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.78;ReadPosRankSum=-2.870e-01;SOR=0.602	GT:AD:DP:GQ:PL	0/1:91,70:161:99:1749,0,2244	20	0	1	0
chr17	47523024	47523024	G	C	exonic	NPEPPS	.	nonsynonymous SNV	NPEPPS:NM_001330257:exon1:c.G38C:p.C13S,	.	.	435	1085	1	1	0	3	0.00138058	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.81	T	0.003	B	0.012	B	.	.	1.000	N	.	.	5.12	T	-0.913	T	0.010	T	0.136	2.150	13.15	1.75	0.390	1.566	5.284	0.032	0.00212036488721	.	0.000798722	0.0005	0.0054	0	0	.	0.0004	0.0089	0.0003	0.0002305	6	26028	rs533101800	0.0005	0.0005	0.0005	0.0005	0.0125	0.0005	0.0004	0.0100	0.0091	0.0005	0.0010	8.551e-05	0	0	0.0125	0.0004	0.0011	0.0004	0.0006	0.0006	0.0006	0.0006	0.0020	0.0005	0.0005	0.0014	0.0012	0.0003	0	0.0020	0	0	0	0.0034	0.0006	0.0048	0.0004	0.729	0.91255	T	0.598	0.07999	T	0.003	0.11197	B	0.012	0.16012	B	.	.	.	.	1	0.08975	N	.	.	.	3.03	0.08898	T	0.06	0.06253	N	0.481	0.51583	-0.9130	0.46480	T	0.010	0.03537	T	8	0.0056868196	0.00126	T	0.00212	0.03935	T	0.032	0.07718	0.548	0.66296	0.043077524339	0.03247	.	.	.	.	.	.	.	.	.	.	-0.54754	0.00302	T	-0.641063	0.09592	T	0.00675132493633832	0.00076	T	0.350665	0.07816	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.107	0.24498	B	.;.	.;.	1.157752	0.15464	11.87	0.92717388983502591	0.22214	0.22695	0.21833	N	AEFGI	0.061951	0.11880	N	-0.991326959619409	0.08788	0.4134012	-0.986489555107943	0.10088	0.5059122	7.87968145414547E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	3.77	1.75	0.23707	1.532000	0.35634	5.912000	0.51036	0.488000	0.22294	0.564000	0.27457	1.000000	0.68203	0.288000	0.24212	0.1166:0.2096:0.6738:0.0	5.284	0.15002	803	0.44167	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1206.98	41	chr17	47523024	.	G	C	1206.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.97;DP=889;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=39.51;MQRankSum=-2.640e-01;QD=12.98;ReadPosRankSum=-2.350e-01;SOR=0.612	GT:AD:DP:GQ:PL	0/1:44,49:93:99:1221,0,965	20	0	1	0
chr17	50541243	50541243	T	C	exonic	EPN3	.	nonsynonymous SNV	EPN3:NM_017957:exon8:c.T1264C:p.F422L,	.	.	416	1101	4	1	0	6	0.00271739	.	.	2398096	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.48	T	0.005	B	0.008	B	0.814	N	1.000	D	1.995	M	0.24	T	-0.947	T	0.176	T	0.173	1.908	12.34	4.76	2.003	1.924	8.444	0.140	0.0141825201783	.	0.000199681	6.59e-05	0	0	0	0	7.493e-05	0.0011	0.0001	6.47e-05	10	154602	rs193150553	0.0001	0.0001	0.0001	0.0001	0.0151	0.0001	0.0001	0.0125	0.0116	8.961e-05	0	0	0	0	0.0151	5.306e-05	0.0003	0.0001	7.225e-05	7.218e-05	3.856e-05	0.0001	4.411e-05	3.97e-05	3.126e-05	1.171e-05	6.25e-06	2.407e-05	0	0	0	0	0	0.0204	4.411e-05	0.0005	0	0.059	0.37536	T	0.228	0.25286	T	0.005	0.12996	B	0.008	0.13708	B	0.814410	0.09226	N	0.865719	1	0.81001	D	1.89	0.50145	L	0.24	0.59583	T	-2.9	0.60827	D	0.289	0.32701	-0.9465	0.41566	T	0.176	0.51990	T	10	0.15172276	0.28672	T	0.014183	0.34122	T	0.140	0.37593	.	.	0.862625972627	0.86129	0.24191483975762648	0.24105	0.191962338757	0.21522	0.471148610115	0.34839	T	0.239268	0.60735	T	-0.25405	0.13607	T	-0.400048	0.33380	T	0.0395641922950745	0.03612	T	0.60194	0.22516	T	0.19060323	0.40653	0.176594	0.40204	0.19060323	0.40653	0.176594	0.40204	-4.323	0.28498	T	.	.	0.517	0.65350	A	.	.	3.153646	0.42703	21.6	0.988751782024193	0.47719	0.10979	0.16325	N	AEFDGBCI	0.114711	0.22583	N	-0.37879253561079	0.26227	1.429715	-0.302100713721761	0.28031	1.559737	0.999999677528642	0.74766	0.676563	0.55306	0	0.475579	0.06741	0	0.673471	0.61138	0	0.604944	0.38103	0	.	.	4.76	4.76	0.60189	2.383000	0.44008	6.019000	0.52765	0.651000	0.53179	0.920000	0.31959	1.000000	0.68203	0.656000	0.32857	0.0:0.0884:0.0:0.9116	8.444	0.31990	942	0.12992	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1898.98	34	chr17	50541243	.	T	C	1898.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.504e+00;DP=1003;ExcessHet=0.0000;FS=2.765;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.79;ReadPosRankSum=1.06;SOR=0.514	GT:AD:DP:GQ:PL	0/1:84,77:161:99:1913,0,2256	20	0	1	0
chr17	58203086	58203086	A	T	exonic	EPX	.	nonsynonymous SNV	EPX:NM_000502:exon11:c.A1714T:p.N572Y,	.	.	1	1414	102	5	0	112	0.0380952	.	.	704251	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0	D	1.0	D	0.993	D	0.000	D	1.000	D	3.57	H	-0.89	T	0.222	D	0.428	T	0.899	4.113	21.2	5.83	2.231	5.949	14.155	0.714	.	0.0052	0.0131789	0.0097	0.0010	0.0026	0.0404	0.0005	0.0057	0.0100	0.0242	0.0090426	1398	154602	rs2302311	0.0072	0.0072	0.0066	0.0079	0.0356	0.0071	0.0071	0.0341	0.0335	0.0011	0.0028	0.0041	0.0356	0.0005	0.0262	0.0055	0.0089	0.0238	0.0060	0.0060	0.0057	0.0064	0.0363	0.0057	0.0056	0.0320	0.0304	0.0013	0.0175	0.0037	0.0063	0.0363	0.0005	0.0136	0.0064	0.0052	0.0255	0.0	0.91255	D	0.001	0.83351	D	1.0	0.90584	D	0.993	0.81110	D	0.000087	0.51296	D	0.229393	0.999894	0.50595	D	3.395	0.91620	M	-0.89	0.74793	T	-7.26	0.94377	D	0.855	0.85132	0.222	0.86286	D	0.428	0.77055	T	10	0.011209935	0.00246	T	.	.	.	0.714	0.89831	.	.	0.907641921367	0.90672	0.9397424012326949	0.93955	0.60966715383	0.55685	0.618428587914	0.55507	T	0.73717	0.92690	D	0.0215653	0.54591	T	0.293971	0.87906	D	0.0441071641916809	0.04439	T	0.918408	0.70674	D	0.93080324	0.94318	0.9297195	0.97075	0.91762865	0.93020	0.9297195	0.97076	-10.78	0.78437	D	0.6057418395158497	0.67300	0.721	0.73813	P	.	.	4.624316	0.73463	26.0	0.9931117169918775	0.59017	0.98284	0.81251	D	AEFDHI	0.846482	0.76336	D	0.902057263412658	0.91858	11.10306	0.8354303646208	0.92136	11.25628	0.995667577349472	0.34254	0.533608	0.22052	0	0.593476	0.48661	0	0.685742	0.62368	0	0.613276	0.41899	0	.	.	5.83	5.83	0.93059	5.936000	0.69869	9.239000	0.79409	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	1.0:0.0:0.0:0.0	14.155	0.64945	569	0.70546	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.07143	2291.68	36	chr17	58203086	.	A	T	2291.68	.	AC=3;AF=0.071;AN=42;BaseQRankSum=0.937;DP=835;ExcessHet=0.3300;FS=3.309;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=11.12;ReadPosRankSum=0.915;SOR=0.928	GT:AD:DP:GQ:PL	0/1:37,32:69:99:916,0,1008	18	0	3	0
chr17	63941038	63941038	C	G	exonic	SCN4A	.	nonsynonymous SNV	SCN4A:NM_000334:exon24:c.G5244C:p.K1748N,	Hyperkalemic periodic paralysis, type 2, Autosomal dominant;Hypokalemic periodic paralysis, type 2, Autosomal dominant;Myasthenic syndrome, congenital, 16, Autosomal recessive;Myotonia congenita, atypical, acetazolamide-responsive, Autosomal dominant;Paramyotonia congenita, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.996	D	0.918	D	0.001	N	0.981	D	3.07	M	-4.04	D	1.043	D	0.927	D	0.189	3.234	16.84	3.89	2.180	0.319	9.244	0.580	0.303557141155	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.468e-05	0.0004	3.138e-05	1.791e-05	5.983e-05	1.807e-05	1.604e-05	2.122e-05	1.866e-05	5.983e-05	0	0	2.52e-05	0	0	2.975e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.008	0.67890	D	0.996	0.68779	D	0.918	0.65394	D	0.001323	0.39379	N	0.266717	0.981377	0.39770	D	3.46	0.92336	M	-4.04	0.96465	D	-2.91	0.60982	D	0.415	0.45520	1.043	0.97979	D	0.927	0.97601	D	10	0.6123196	0.67513	D	0.303557	0.90961	D	0.580	0.83081	0.384	0.40298	0.898534176303	0.89752	0.5995780334703891	0.59888	0.692431633833	0.60665	0.752315163612	0.74788	T	0.685387	0.90803	D	0.120235	0.66394	D	-0.0650671	0.65976	T	0.989463925361633	0.79699	D	0.831017	0.49766	T	0.7440135	0.80523	0.5270589	0.72675	0.7440135	0.80524	0.5270589	0.72675	-7.785	0.59595	D	0.2770756796120702	0.37175	0.930	0.85031	P	.	.	3.060384	0.41100	21.3	0.99839407367986555	0.91972	0.85331	0.44454	D	AEFDBI	0.586077	0.58426	D	0.579656383859094	0.71907	5.72267	0.473874561743895	0.66263	4.929493	0.870675316718076	0.25410	0.646311	0.45356	0	0.573888	0.26702	0	0.645312	0.48771	0	0.613276	0.41899	0	.	.	3.89	3.89	0.44098	0.425000	0.21065	0.146000	0.15234	0.599000	0.40250	0.993000	0.37899	0.937000	0.28687	0.926000	0.46234	0.0:0.9002:0.0:0.0998	9.244	0.36672	834	0.38640	IQ motif, EF-hand binding site	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.2143	416.88	220	chr17	63941038	.	C	G	416.88	.	AC=6;AF=0.214;AN=28;BaseQRankSum=-5.194e+00;DP=3372;ExcessHet=1.7912;FS=313.201;InbreedingCoeff=-0.3107;MLEAC=8;MLEAF=0.286;MQ=60.00;MQRankSum=0.00;QD=0.33;ReadPosRankSum=0.282;SOR=13.047	GT:AD:DP:GQ:PL	0/1:158,59:251:52:52,0,3018	8	0	6	7
chr17	67167482	67167482	C	T	exonic	HELZ	.	nonsynonymous SNV	HELZ:NM_001330447:exon14:c.G1745A:p.R582Q	.	.	436	1085	1	0	0	1	0.000460617	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.49	T	0.263	B	0.008	B	0.007	N	0.892	D	-0.805	N	-1.55	D	-0.663	T	0.197	T	0.408	2.019	12.71	4.99	2.467	1.529	12.069	0.251	0.0212275812519	.	.	.	.	.	.	.	.	.	.	.	.	.	rs750066876	4.109e-06	4.104e-06	4.089e-06	4.129e-06	0.0002	1.48e-06	9.7e-07	8.4e-07	5.7e-07	0	2.24e-05	0	0	0	0.0002	3.601e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.502	0.07695	T	0.763	0.04587	T	0.064	0.23455	B	0.008	0.13708	B	0.007199	0.31545	N	0.343015	0.892258	0.35979	D	-0.145	0.04423	N	-1.55	0.81727	D	1.08	0.01263	N	0.121	0.14480	-0.6627	0.62157	T	0.197	0.55229	T	10	0.06359774	0.08309	T	0.021228	0.43966	T	0.251	0.56024	0.395	0.42099	0.314436011497	0.31061	0.19781620037163616	0.19698	0.747903240983	0.63614	0.365749806166	0.20220	T	0.06128	0.31612	T	-0.0507089	0.44338	T	-0.227751	0.51989	T	0.293358534574509	0.24730	T	0.908809	0.67676	D	0.049792994	0.08895	0.046388436	0.06456	0.049792994	0.08895	0.046388436	0.06455	-1.449	0.01663	T	.	.	0.066	0.03552	B	.;.	.;.	3.452717	0.48089	22.6	0.97507298991021663	0.34331	0.85944	0.45138	D	AEFBI	0.116181	0.22812	N	-0.337241596383512	0.27743	1.524649	-0.0878261985498034	0.35891	2.081997	0.170638396447824	0.17730	0.706548	0.73137	0	0.653731	0.59785	0	0.65145	0.50148	0	0.714379	0.83352	0	.	.	4.99	4.99	0.65942	1.544000	0.35764	5.958000	0.51771	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.9207:0.0:0.0793	12.069	0.52901	624	0.65661	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	858.98	34	chr17	67167482	.	C	T	858.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.73;DP=757;ExcessHet=0.0000;FS=1.064;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.32;ReadPosRankSum=-8.440e-01;SOR=0.956	GT:AD:DP:GQ:PL	0/1:29,31:60:99:873,0,761	20	0	1	0
chr17	73395260	73395260	C	T	exonic	SDK2	.	nonsynonymous SNV	SDK2:NM_001144952:exon25:c.G3487A:p.E1163K,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.16	T	0.988	D	0.833	P	0.000	D	1.000	D	1.76	L	0.41	T	-0.650	T	0.263	T	0.922	4.335	22.8	5.05	2.350	5.735	18.425	0.358	0.0783670638568	.	.	8.469e-06	0.0001	0	0	0	0	0	0	6.5e-06	1	154602	rs749923803	4.789e-06	4.788e-06	2.723e-06	6.877e-06	1.16e-05	1.99e-06	1.28e-06	1.94e-06	1.28e-06	0	0	0	0	0	0	5.396e-06	0	1.16e-05	6.573e-06	6.567e-06	1.285e-05	0	0.0002	0	0	.	.	0	0	0	0	0.0002	0	0	0	0	0	0.013	0.53900	D	0.041	0.53426	D	0.988	0.62325	D	0.833	0.59784	P	0.000000	0.84330	D	0.000000	1	0.81001	D	2.245	0.63543	M	0.41	0.57100	T	-3.21	0.66896	D	0.718	0.72031	-0.6496	0.62732	T	0.263	0.63361	T	10	0.7659594	0.76706	D	0.078367	0.72989	D	0.358	0.67872	0.528	0.63412	0.736414146471	0.73405	0.7203288120915632	0.71975	0.941044251343	0.72205	0.65693718195	0.60972	T	0.165997	0.51206	T	0.148933	0.69169	D	0.157684	0.80663	D	0.976695001125336	0.71497	D	0.883312	0.60567	D	0.34412217	0.56605	0.29529163	0.55561	0.34412217	0.56605	0.29529163	0.55560	-10.552	0.77145	D	.	.	0.301	0.53048	B	.;.	.;.	3.845238	0.55667	23.6	0.99920698753737025	0.98721	0.93912	0.59551	D	AEFDGBCI	0.764459	0.70124	D	0.45332220980706	0.64391	4.692649	0.42107989191663	0.62881	4.511169	0.999999999526085	0.74766	0.646311	0.45356	0	0.610034	0.51514	0	0.645312	0.48771	0	0.620846	0.47308	0	.	.	5.05	5.05	0.67566	5.864000	0.69328	7.610000	0.61877	-0.175000	0.10903	1.000000	0.71638	1.000000	0.68203	0.135000	0.19760	0.0:1.0:0.0:0.0	18.425	0.90551	470	0.78111	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	0	0	0	0	0	0	0	0	0	0	0	0.02381	2605.98	33	chr17	73395260	.	C	T	2605.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.83;DP=904;ExcessHet=0.0000;FS=0.519;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.30;ReadPosRankSum=0.669;SOR=0.652	GT:AD:DP:GQ:PL	0/1:95,101:196:99:2620,0,2217	20	0	1	0
chr17	75740816	75740818	CTC	-	exonic	ITGB4	.	nonframeshift deletion	ITGB4:NM_001005619:exon21:c.2574_2576del:p.S859del	Epidermolysis bullosa of hands and feet, Autosomal dominant;Epidermolysis bullosa, junctional, non-Herlitz type, Autosomal recessive;Epidermolysis bullosa, junctional, with pyloric atresia, Autosomal recessive	.	1	1518	3	0	0	3	0.000987167	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.053e-06	2.052e-06	0	4.127e-06	2.698e-06	5.5e-07	1.5e-07	7.2e-07	2e-07	0	0	0	0	0	0	2.698e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2507.94	35	chr17	75740815	.	TCTC	T	2507.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-8.540e-01;DP=849;ExcessHet=0.0000;FS=1.296;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.83;ReadPosRankSum=0.974;SOR=0.797	GT:AD:DP:GQ:PL	0/1:83,66:149:99:2522,0,3266	20	0	1	0
chr17	75839879	75839879	C	T	exonic	UNC13D	.	nonsynonymous SNV	UNC13D:NM_199242:exon12:c.G1015A:p.A339T,	Hemophagocytic lymphohistiocytosis, familial, 3	.	0	1519	3	0	0	3	0.000986518	.	.	2360565	Inborn_genetic_diseases	MeSH:D030342,MedGen:C0950123	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.03	D	1.0	D	1.0	D	0.000	D	1.000	D	2.16	M	-1.15	T	0.231	D	0.589	D	0.652	4.397	23.3	3.46	1.073	4.460	13.915	0.565	0.193890247471	.	.	8.308e-06	0	0	0	0	1.517e-05	0	0	3.23e-05	5	154602	rs781050501	2.463e-05	2.463e-05	2.314e-05	2.613e-05	8.961e-05	1.803e-05	1.6e-05	2.374e-05	1.304e-05	8.961e-05	2.236e-05	0	0	1.879e-05	0	2.248e-05	3.311e-05	4.637e-05	4.602e-05	4.597e-05	3.855e-05	5.383e-05	0.0001	2.11e-05	1.527e-05	6.286e-05	4.301e-05	0.0001	0	0	0	0	0	0	1.47e-05	0	0	0.005	0.65419	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000001	0.84330	D	0.000000	1	0.81001	D	2.25	0.63811	M	-1.15	0.78314	T	-3.38	0.66780	D	0.731	0.73195	0.231	0.86436	D	0.589	0.85298	D	10	0.8459654	0.83762	D	0.19389	0.86330	D	0.565	0.82232	0.535	0.64439	0.887090354945	0.88598	0.4767044223446271	0.47590	0.387447643951	0.40021	0.608565330505	0.54113	T	0.669988	0.90194	D	-0.0233967	0.48367	T	-0.0347156	0.68055	D	0.820233941078186	0.47790	D	0.90121	0.65680	D	0.3904877	0.60067	0.41518292	0.65640	0.3904877	0.60067	0.41518292	0.65640	-6.829	0.52774	T	0.6422218597834943	0.71311	0.313	0.53959	B	.;.	.;.	4.148068	0.62199	24.4	0.99923218761500265	0.98917	0.94246	0.60559	D	AEFBI	0.608566	0.59810	D	0.488265879299318	0.66402	4.945657	0.395362043384714	0.61278	4.325759	0.801901713156838	0.24201	0.631515	0.41029	0	0.697927	0.68747	0	0.576033	0.28219	0	0.567892	0.33627	0	.	.	4.43	3.46	0.38718	4.689000	0.61410	5.957000	0.51754	0.596000	0.33519	1.000000	0.71638	1.000000	0.68203	0.382000	0.26379	0.1532:0.8468:0.0:0.0	13.915	0.63397	940	0.13648	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.02381	1273.98	33	chr17	75839879	.	C	T	1273.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.700e-02;DP=805;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.18;ReadPosRankSum=0.763;SOR=0.715	GT:AD:DP:GQ:PL	0/1:59,55:114:99:1288,0,1385	20	0	1	0
chr17	78414906	78414906	G	C	exonic	PGS1	.	nonsynonymous SNV	PGS1:NM_024419:exon8:c.G1430C:p.S477T,	.	.	425	1096	1	0	0	1	0.000455996	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.57	T	0.0	B	0.001	B	0.153	N	0.859	D	-0.14	N	.	.	-1.022	T	0.087	T	0.16	0.689	7.681	4.42	2.279	2.493	9.257	0.133	0.00102604318154	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.505	0.07619	T	0.578	0.08565	T	0.0	0.02946	B	0.001	0.04355	B	0.153371	0.02980	N	1.656300	0.78607	0.35357	D	0.17	0.09006	N	.	.	.	-0.92	0.24676	N	0.218	0.24385	-1.0222	0.22998	T	0.087	0.33690	T	9	0.100775	0.18372	T	0.001026	0.01120	T	0.133	0.36157	0.416	0.45544	0.272205846399	0.26826	0.48822919452145286	0.48742	0.400576847845	0.41057	0.522867918015	0.42031	T	0.038567	0.24885	T	-0.158169	0.27044	T	-0.464975	0.26060	T	0.285688483656004	0.24410	T	0.716128	0.32863	T	0.113997735	0.26918	0.08272893	0.18904	0.113997735	0.26918	0.08272893	0.18904	-5.262	0.39566	T	.	.	0.072	0.04080	B	.	.	2.999653	0.40076	21.1	0.81573730893301355	0.13753	0.93252	0.57722	D	AEFDGBI	0.461500	0.51123	N	-0.349206929921983	0.27301	1.496791	-0.125370853288972	0.34370	1.976304	0.999999887756153	0.74766	0.722319	0.85440	0	0.698795	0.70079	0	0.697927	0.64325	0	0.662433	0.64102	0	.	.	4.42	4.42	0.52775	2.520000	0.45215	6.467000	0.55706	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.1672:0.0:0.8328:0.0	9.257	0.36751	856	0.34373	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	838.98	36	chr17	78414906	.	G	C	838.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.41;DP=777;ExcessHet=0.0000;FS=6.648;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.99;ReadPosRankSum=0.822;SOR=1.599	GT:AD:DP:GQ:PL	0/1:39,31:70:99:853,0,942	20	0	1	0
chr17	79782007	79782007	C	T	exonic	CBX2	.	nonsynonymous SNV	CBX2:NM_032647:exon4:c.C494T:p.P165L,	.	.	0	1518	4	0	0	4	0.00131579	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	B	0.002	B	.	.	1.000	N	.	.	.	.	-1.020	T	0.055	T	0.034	2.299	13.65	-1.03	-0.382	-0.707	6.667	0.011	0.00794506657179	0.0003	.	0.0003	0.0002	0	0	0	0.0004	0.0022	0.0005	0.0003428	53	154602	rs141807141	0.0007	0.0007	0.0006	0.0007	0.0008	0.0006	0.0006	0.0007	0.0007	0.0001	4.472e-05	0	0.0001	1.876e-05	0.0007	0.0008	0.0005	0.0008	0.0003	0.0003	0.0004	0.0003	0.0008	0.0002	0.0002	0.0004	0.0004	0.0001	0	6.541e-05	0	0	0	0	0.0006	0	0.0008	0.0	0.91255	D	0.016	0.60972	D	0.004	0.12183	B	0.002	0.06944	B	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	-1.81	0.42575	N	0.095	0.07535	-1.0205	0.23551	T	0.055	0.23300	T	6	0.021969974	0.00537	T	0.007945	0.21059	T	0.011	0.01250	.	.	0.043077524339	0.03247	.	.	.	.	.	.	.	.	.	.	-0.618156	0.00113	T	-0.74622	0.03635	T	0.0132076967938423	0.00234	T	0.433957	0.11861	T	.	.	.	.	.	.	.	.	-3.201	0.12493	T	.	.	0.087	0.11366	B	.	.	0.110563	0.05102	1.634	0.98380204775926294	0.40842	0.02494	0.06974	N	AEFDBCI	0.020770	0.00854	N	-1.0467255863589	0.07652	0.3561845	-1.15814736498346	0.06623	0.3194013	0.963019347106056	0.28662	0.495158	0.18159	0	0.616935	0.53198	0	0.575934	0.27490	0	0.491896	0.07777	0	.	.	3.26	-1.03	0.09586	-1.044000	0.03642	-1.027000	0.06560	-0.190000	0.09434	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.374:0.0:0.626	6.667	0.22235	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1175.98	33	chr17	79782007	.	C	T	1175.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.76;DP=763;ExcessHet=0.0000;FS=0.900;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.56;ReadPosRankSum=0.064;SOR=0.740	GT:AD:DP:GQ:PL	0/1:31,40:71:99:1190,0,653	20	0	1	0
chr17	80090216	80090216	G	0	exonic	CCDC40	.	.	.	Ciliary dyskinesia, primary, 15	.	38	25	77	71	15	234	0.814126	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6471	53123.61	98	chr17	80090216	.	G	C,*	53123.61	.	AC=21,1;AF=0.618,0.029;AN=34;BaseQRankSum=1.74;DP=3278;ExcessHet=5.2224;FS=0.555;InbreedingCoeff=-0.1442;MLEAC=25,1;MLEAF=0.735,0.029;MQ=55.51;MQRankSum=-5.208e+00;QD=22.16;ReadPosRankSum=-1.655e+00;SOR=0.751	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:105,117,0:222:99:0|1:80090216_G_C:3759,0,3842,4075,4194,8268:80090216	1	6	9	4
chr17	80090233	80090233	A	0	exonic	CCDC40	.	.	.	Ciliary dyskinesia, primary, 15	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	3576.28	72	chr17	80090233	.	A	G,*	3576.28	.	AC=2,1;AF=0.048,0.024;AN=42;BaseQRankSum=-1.180e+00;DP=2625;ExcessHet=0.3300;FS=0.000;InbreedingCoeff=-0.0769;MLEAC=2,1;MLEAF=0.048,0.024;MQ=57.83;MQRankSum=6.42;QD=7.12;ReadPosRankSum=0.826;SOR=0.661	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:107,96,0:203:99:1|0:80090216_G_C:1947,0,4133,2268,4417,6686:80090216	18	0	2	0
chr17	80090265	80090265	G	0	exonic	CCDC40	.	.	.	Ciliary dyskinesia, primary, 15	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7143	34612.98	75	chr17	80090265	.	G	A,*	34612.98	.	AC=18,2;AF=0.643,0.071;AN=28;BaseQRankSum=2.00;DP=2590;ExcessHet=0.6050;FS=1.909;InbreedingCoeff=0.1309;MLEAC=24,3;MLEAF=0.857,0.107;MQ=52.75;MQRankSum=-4.152e+00;QD=21.84;ReadPosRankSum=0.657;SOR=0.582	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:83,79,0:162:99:0|1:80090216_G_C:2600,0,3092,2849,3320,6169:80090216	1	7	4	7
chr18	6890539	6890539	G	T	exonic	ARHGAP28	.	nonsynonymous SNV	ARHGAP28:NM_001010000:exon13:c.G1367T:p.R456L	.	.	435	1062	25	0	0	25	0.0116333	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	1.0	D	0.992	D	0.001	N	1.000	D	2.365	M	3.12	T	-1.099	T	0.094	T	0.903	3.432	17.61	5.08	2.793	3.704	17.769	0.263	.	0.0013	0.00878594	0.0063	0.0004	0.0013	0.0189	0	0.0015	0.0012	0.0324	0.0053816	832	154602	rs74414891	0.0033	0.0034	0.0026	0.0041	0.0255	0.0032	0.0032	0.0246	0.0243	0.0004	0.0010	0.0038	0.0199	5.637e-05	0.0139	0.0013	0.0038	0.0255	0.0024	0.0024	0.0021	0.0026	0.0249	0.0022	0.0021	0.0213	0.0199	0.0004	0	0.0015	0.0035	0.0168	0	0.0068	0.0014	0.0014	0.0249	0.002	0.72154	D	0.009	0.74150	D	1.0	0.90584	D	0.977	0.80445	D	0.001276	0.39594	N	0.254470	0.999999	0.81001	D	2.845	0.82663	M	3.18	0.10482	T	-4.25	0.81910	D	0.603	0.65501	-1.0987	0.04252	T	0.094	0.35551	T	10	0.0055380464	0.00122	T	.	.	.	0.263	0.57612	.	.	0.511220899679	0.50763	0.4944415560464715	0.49365	0.768272729556	0.64638	0.456587791443	0.32844	T	0.198741	0.55581	T	-0.144411	0.29190	T	0.0393842	0.72888	D	0.0497714532028	0.05461	T	0.881612	0.60617	D	0.25142154	0.48151	0.20026965	0.43949	0.25142154	0.48150	0.20026965	0.43948	-5.582	0.47166	T	.	.	0.369	0.60693	A	.;.;.;.;.;.	.;.;.;.;.;.	4.280408	0.65203	24.8	0.99800484344759965	0.88550	0.92405	0.55636	D	AEFBI	0.458825	0.50969	N	0.597714771600917	0.73030	5.900242	0.510549642992938	0.68698	5.256236	0.999965057537545	0.48965	0.615465	0.37627	0	0.573888	0.26702	0	0.658983	0.55881	0	0.635551	0.53088	0	.	.	5.08	5.08	0.68373	4.878000	0.62786	11.809000	0.96880	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.184000	0.21420	0.0:0.0:1.0:0.0	17.769	0.88395	776	0.48302	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	768.98	42	chr18	6890539	.	G	T	768.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.65;DP=834;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.31;ReadPosRankSum=-4.260e-01;SOR=0.788	GT:AD:DP:GQ:PL	0/1:38,30:68:99:783,0,1006	20	0	1	0
chr18	9887397	9887397	C	0	exonic	TXNDC2	.	.	.	.	.	477	317	422	139	167	867	0.524738	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5476	89848.01	520	chr18	9887397	.	C	T,*	89848.01	.	AC=14,15;AF=0.333,0.357;AN=42;BaseQRankSum=1.52;DP=12043;ExcessHet=0.2231;FS=0.000;InbreedingCoeff=0.2202;MLEAC=14,15;MLEAF=0.333,0.357;MQ=59.66;MQRankSum=-1.550e-01;QD=11.05;ReadPosRankSum=-6.600e-02;SOR=0.699	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:297,278,0:575:99:.:.:6895,0,6974,8367,8360,19984	3	2	4	0
chr18	12814235	12814235	C	T	exonic	PTPN2	.	nonsynonymous SNV	PTPN2:NM_001308287:exon6:c.G739A:p.A247T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.794	P	0.216	B	0.002	N	1.000	D	2.125	M	3.61	T	-1.134	T	0.021	T	0.559	3.885	19.75	5.86	2.771	3.660	14.969	0.102	0.00876789102268	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1207461588	6.903e-07	3.421e-06	0	1.387e-06	1.18e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.18e-05	1.314e-05	1.314e-05	0	2.691e-05	4.828e-05	2.18e-06	8.2e-07	8e-06	2.99e-06	4.828e-05	0	0	0	0	0	0	0	0	0	0.004	0.65419	D	0.039	0.54934	D	0.535	0.43786	P	0.192	0.37572	B	0.001669	0.38326	N	0.115428	0.999173	0.51042	D	3.2	0.89116	M	3.59	0.08547	T	-3.58	0.69477	D	0.344	0.41261	-1.1337	0.01613	T	0.021	0.08917	T	10	0.35547003	0.52307	T	0.008768	0.23147	T	0.102	0.29158	0.427	0.47350	0.372852800391	0.36900	0.6334288060791295	0.63276	0.105728612331	0.11951	0.501613557339	0.39053	T	0.381024	0.74343	T	-0.0684986	0.41567	T	-0.33617	0.40778	T	0.963272750377655	0.66611	D	0.937806	0.76632	D	0.35962412	0.57807	0.25244695	0.50874	0.35962412	0.57808	0.25244695	0.50873	-9.242	0.69757	D	.	.	0.158	0.47524	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	4.106374	0.61274	24.3	0.99791293313253737	0.87661	0.97939	0.78280	D	AEFDGBI	0.505265	0.53649	D	0.395752582900315	0.61191	4.316961	0.491495573655148	0.67425	5.082329	0.999999940755575	0.74766	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.683762	0.67416	0	.	.	5.86	5.86	0.93936	3.760000	0.54947	4.855000	0.45413	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.1426:0.8574:0.0:0.0	14.969	0.70864	746	0.52331	.;.;.;PTP type protein phosphatase;PTP type protein phosphatase;PTP type protein phosphatase;PTP type protein phosphatase	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.225	1024.34	23	chr18	12814235	.	C	T	1024.34	.	AC=9;AF=0.225;AN=40;BaseQRankSum=-1.786e+00;DP=832;ExcessHet=4.7172;FS=190.289;InbreedingCoeff=-0.2940;MLEAC=9;MLEAF=0.225;MQ=59.98;MQRankSum=0.00;QD=2.05;ReadPosRankSum=0.165;SOR=10.577	GT:AD:DP:GQ:PL	0/1:28,22:50:99:118,0,424	11	0	9	1
chr18	31388386	31388386	C	T	exonic	DSG4	.	nonsynonymous SNV	DSG4:NM_001134453:exon4:c.C236T:p.S79L	Hypotrichosis 6, Autosomal recessive	.	1	1486	35	0	0	35	0.0116395	.	.	715937	not_provided|DSG4-related_disorder|Hypotrichosis_6	MedGen:C3661900|.|MONDO:MONDO:0011932,MedGen:C1842839,OMIM:607903,Orphanet:55654	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.06	T	0.054	B	0.046	B	0.727	N	1.000	N	1.28	L	0.74	T	-0.961	T	0.073	T	0.083	-0.082	3.600	-1.72	-0.177	-0.768	6.536	0.010	.	0.0048	0.00439297	0.0042	0.0046	0.0027	0	0	0.0051	0.0044	0.0053	0.0040297	623	154602	rs36040686	0.0032	0.0032	0.0030	0.0033	0.0191	0.0031	0.0031	0.0162	0.0151	0.0050	0.0033	0.0436	0	0.0003	0.0191	0.0020	0.0065	0.0048	0.0038	0.0038	0.0039	0.0037	0.0060	0.0035	0.0034	0.0043	0.0037	0.0031	0	0.0042	0.0542	0	0.0004	0.0340	0.0021	0.0057	0.0060	0.264	0.16358	T	0.155	0.31936	T	0.054	0.22658	B	0.046	0.24676	B	0.727362	0.06349	N	1.212930	0.999999	0.08975	N	0.915	0.23335	L	0.74	0.50459	T	-1.75	0.41428	N	0.107	0.10340	-0.9614	0.38916	T	0.073	0.29675	T	10	0.0033466518	0.00058	T	.	.	.	0.010	0.01040	.	.	0.276898752692	0.27294	0.13389012196261588	0.13313	0.029762402894	0.03065	0.298493921757	0.10177	T	0.108723	0.42200	T	-0.647278	0.00075	T	-0.698542	0.05906	T	0.00208938657306135	0.00022	T	0.162684	0.01721	T	0.038331885	0.05086	0.049947403	0.07739	0.03988346	0.05589	0.039548468	0.04072	-2.372	0.04964	T	.	.	0.072	0.07224	B	.;.	.;.	-0.453279	0.02022	0.181	0.92623994699646028	0.22094	0.01138	0.04130	N	AEFI	0.026801	0.02075	N	-1.0116172173723	0.08362	0.3917972	-1.0389198890453	0.08939	0.4420613	0.00372337501722856	0.10253	0.487112	0.14033	0	0.573888	0.26702	0	0.491513	0.07944	0	0.564101	0.26826	0	.	.	5.73	-1.72	0.07671	-1.225000	0.03066	-3.198000	0.02978	-0.850000	0.02721	0.000000	0.06391	0.000000	0.08366	0.025000	0.12405	0.1368:0.358:0.0:0.5052	6.536	0.21550	643	0.63827	Cadherin-like|Cadherin-like;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.04762	2049.11	39	chr18	31388386	.	C	T	2049.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=2.76;DP=888;ExcessHet=0.1072;FS=4.314;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=9.31;ReadPosRankSum=1.23;SOR=1.023	GT:AD:DP:GQ:PL	0/1:68,39:107:99:896,0,1826	19	0	2	0
chr18	31399464	31399464	G	A	exonic	DSG4	.	nonsynonymous SNV	DSG4:NM_001134453:exon9:c.G1198A:p.G400R	Hypotrichosis 6, Autosomal recessive	.	0	1484	38	0	0	38	0.0126414	.	.	576181	Hypotrichosis_6|not_provided|DSG4-related_disorder	MONDO:MONDO:0011932,MedGen:C1842839,OMIM:607903,Orphanet:55654|MedGen:C3661900|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.52	T	1.0	D	0.992	D	0.077	N	0.940	D	1.06	L	0.35	T	-0.826	T	0.188	T	0.848	1.657	11.50	5.33	2.649	3.133	12.717	0.179	.	0.0050	0.00439297	0.0043	0.0046	0.0027	0	0	0.0052	0.0044	0.0058	0.0040685	629	154602	rs35378785	0.0033	0.0033	0.0031	0.0034	0.0203	0.0032	0.0032	0.0173	0.0162	0.0051	0.0033	0.0435	0	0.0003	0.0203	0.0021	0.0067	0.0055	0.0039	0.0039	0.0039	0.0039	0.0068	0.0036	0.0035	0.0050	0.0044	0.0031	0	0.0042	0.0541	0	0.0004	0.0408	0.0022	0.0057	0.0068	0.74	0.03696	T	0.19	0.28860	T	0.531	0.90584	P	0.247	0.80445	B	0.077327	0.21110	N	0.246143	0.939708	0.37270	D	0.495	0.13372	N	0.35	0.59037	T	-0.51	0.15986	N	0.689	0.69474	-0.8261	0.53550	T	0.188	0.53827	T	10	0.0041315258	0.00081	T	.	.	.	0.179	0.44899	0.414	0.45216	0.800236202846	0.79837	0.3010113199831233	0.30014	0.252222878455	0.27793	0.465308904648	0.34037	T	0.102842	0.41094	T	-0.180223	0.23702	T	-0.0276499	0.68524	D	0.0494035485741406	0.05395	T	0.692831	0.31596	T	0.10689115	0.25275	0.13068023	0.31396	0.097276576	0.22927	0.090244345	0.21151	-7.606	0.58353	D	.	.	0.346	0.56311	A	.;.	.;.	2.539861	0.32855	19.17	0.9951036776297365	0.68618	0.73441	0.35924	D	AEFDGBCI	0.203974	0.33044	N	0.267983728041288	0.54534	3.618692	0.339373258754207	0.57870	3.954535	0.999999994021206	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.33	5.33	0.75683	3.309000	0.51613	2.699000	0.34147	0.676000	0.76740	0.291000	0.25242	1.000000	0.68203	0.979000	0.57723	0.0758:0.0:0.9242:0.0	12.717	0.56492	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	0.04762	4946.11	33	chr18	31399464	.	G	A	4946.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-2.050e-01;DP=1063;ExcessHet=0.1072;FS=2.654;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=12.71;ReadPosRankSum=-1.356e+00;SOR=0.837	GT:AD:DP:GQ:PL	0/1:114,95:209:99:2368,0,3110	19	0	2	0
chr18	31541297	31541297	G	A	exonic	DSG2	.	nonsynonymous SNV	DSG2:NM_001943:exon13:c.G1984A:p.A662T,	Arrhythmogenic right ventricular dysplasia 10, Autosomal dominant;Cardiomyopathy, dilated, 1BB	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.999	D	0.000	D	1.000	D	2.85	M	-0.92	T	0.372	D	0.658	D	0.592	5.198	33	5.86	2.937	6.565	20.563	0.426	0.0891150511824	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1186896680	1.368e-06	1.368e-06	2.723e-06	0	2.236e-05	2.3e-07	9e-08	.	.	0	2.236e-05	0	0	0	0	8.995e-07	0	0	6.575e-06	6.568e-06	1.285e-05	0	6.549e-05	0	0	.	.	0	0	6.549e-05	0	0	0	0	0	0	0	0.0	0.91255	D	0.021	0.58089	D	1.0	0.90584	D	0.999	0.92359	D	0.000006	0.62929	D	0.000000	0.999817	0.49394	D	3.05	0.86762	M	-0.92	0.75108	T	-3.52	0.68412	D	0.56	0.58458	0.372	0.88677	D	0.658	0.88122	D	10	0.69900656	0.72324	D	0.089115	0.75265	D	0.426	0.73372	0.21	0.12781	0.956247277456	0.95578	0.9288824395156199	0.92866	0.414509619234	0.42131	0.434575915337	0.29834	T	0.621993	0.88164	D	0.0720377	0.61095	D	-0.051434	0.66924	D	0.993339002132416	0.84094	D	0.858914	0.54988	D	0.6406292	0.74865	0.679	0.81137	0.6406292	0.74866	0.679	0.81138	-8.715	0.65844	D	0.8609242873125713	0.92441	0.562	0.67302	A	.	.	4.707566	0.75589	26.4	0.99913393119932348	0.98238	0.99258	0.93561	D	AEFBI	0.734853	0.68086	D	0.925276561188041	0.92941	11.723	0.887186071652214	0.94988	13.21417	0.999999990424555	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.564101	0.26826	0	.	.	5.86	5.86	0.93936	6.638000	0.74166	11.800000	0.96626	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.981000	0.58702	0.0:0.0:1.0:0.0	20.563	0.99337	702	0.57624	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.4762	4225.93	56	chr18	31541297	.	G	A	4225.93	.	AC=20;AF=0.476;AN=42;BaseQRankSum=-4.940e-01;DP=1248;ExcessHet=43.6797;FS=377.368;InbreedingCoeff=-0.9302;MLEAC=20;MLEAF=0.476;MQ=60.00;MQRankSum=0.00;QD=3.76;ReadPosRankSum=0.537;SOR=12.605	GT:AD:DP:GQ:PL	0/1:29,30:59:99:233,0,391	1	0	20	0
chr18	37067197	37067197	G	A	exonic	KIAA1328	.	nonsynonymous SNV	KIAA1328:NM_001322327:exon6:c.G560A:p.C187Y	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.004	B	0.004	B	0.066	N	1.000	N	0.485	N	1.0	T	-1.034	T	0.038	T	0.11	-2.968	0.001	1.01	0.473	0.289	0.508	0.114	0.00495282325438	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.841e-07	6.84e-07	1.361e-06	0	8.994e-07	0	0	.	.	0	0	0	0	0	0	8.994e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.981	0.02004	T	1.0	0.03324	T	0.001	0.12183	B	0.002	0.10090	B	0.066107	0.21833	N	0.492799	1	0.08975	N	0.995	0.25082	L	1.0	0.41392	T	-2.1	0.47852	N	0.081	0.14054	-1.0339	0.19205	T	0.038	0.16376	T	10	0.04781583	0.04150	T	0.004953	0.12473	T	0.114	0.32008	0.24	0.17218	0.0884992946249	0.08302	0.12486170782916084	0.12412	0.0693334402013	0.07761	0.349928975105	0.17912	T	0.024333	0.18409	T	-0.281787	0.10479	T	-0.642544	0.09485	T	0.114724479615688	0.13906	T	0.662434	0.28129	T	0.03804784	0.04996	0.067671165	0.14031	0.03804784	0.04996	0.067671165	0.14031	-3.62	0.18147	T	.	.	0.075	0.13174	B	.;.;.;.;.	.;.;.;.;.	0.712451	0.10815	7.495	0.20846672331132926	0.00768	0.17205	0.19735	N	AEFGI	0.089171	0.18075	N	-0.990119155275313	0.08813	0.4147193	-0.924159477584458	0.11525	0.5876435	4.19662457214258E-5	0.03989	0.638212	0.43195	0	0.588015	0.36545	0	0.658983	0.55881	0	0.668105	0.65232	0	.	.	6.17	1.01	0.19044	0.347000	0.19760	1.733000	0.28342	0.676000	0.76740	0.648000	0.28154	0.820000	0.27118	0.027000	0.12703	0.2504:0.2192:0.3296:0.2008	0.508	0.00551	738	0.53389	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.119	425.43	46	chr18	37067197	.	G	A	425.43	.	AC=5;AF=0.119;AN=42;BaseQRankSum=-7.394e+00;DP=2559;ExcessHet=1.1607;FS=156.282;InbreedingCoeff=-0.1350;MLEAC=5;MLEAF=0.119;MQ=60.00;MQRankSum=0.00;QD=0.32;ReadPosRankSum=1.76;SOR=9.632	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:240,46:286:25:.:.:25,0,5540	16	0	5	0
chr18	53305666	53305666	G	A	exonic	DCC	.	nonsynonymous SNV	DCC:NM_005215:exon13:c.G2000A:p.R667H,	Colorectal cancer, somatic;Esophageal carcinoma, somatic;Mirror movements 1, Autosomal dominant	.	4	1483	32	3	0	38	0.0126498	.	.	185696	not_provided|Mirror_movements_1	MedGen:C3661900|MONDO:MONDO:0008002,MedGen:C1834870,OMIM:157600,Orphanet:238722	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.04	D	1.0	D	0.987	D	0.000	D	1.000	D	2.085	M	0.6	T	-0.428	T	0.341	T	0.82	3.324	17.18	5.58	2.774	9.267	18.718	0.421	0.0277147776191	.	0.00199681	0.0016	9.623e-05	0.0002	0	0.0002	0.0004	0.0022	0.0099	0.0014295	221	154602	rs200099519	0.0008	0.0008	0.0006	0.0011	0.0099	0.0008	0.0008	0.0080	0.0078	5.975e-05	0.0004	0.0002	2.52e-05	0	0.0099	0.0003	0.0012	0.0085	0.0005	0.0005	0.0005	0.0006	0.0077	0.0004	0.0004	0.0057	0.0051	9.624e-05	0	0.0004	0.0003	0	9.432e-05	0.0238	0.0003	0.0014	0.0077	0.001	0.78490	D	0.002	0.79402	D	1.0	0.90584	D	0.981	0.75168	D	0.000000	0.84330	D	0.000000	0.999995	0.58761	D	2.605	0.76211	M	0.6	0.53731	T	-4.14	0.75220	D	0.708	0.71587	-0.4276	0.71144	T	0.341	0.70705	T	10	0.009708822	0.00218	T	0.027715	0.50496	D	0.421	0.73005	0.468	0.54052	0.799269044683	0.79740	0.39999589072331615	0.39914	0.790290557923	0.65750	0.695385456085	0.66478	T	0.331755	0.70179	T	-0.152377	0.27941	T	0.0155935	0.71344	D	0.102065058359253	0.12583	T	0.944006	0.78847	D	0.85099375	0.87409	0.77656585	0.86819	0.8476411	0.87163	0.7747531	0.86710	-10.559	0.77185	D	.	.	0.175	0.45520	B	.;.;.	.;.;.	5.025069	0.83534	28.1	0.99297806414847678	0.58505	0.98847	0.87641	D	AEFI	0.902154	0.84971	D	0.877066562431841	0.90591	10.47437	0.875903104390561	0.94434	12.75806	0.999999427704446	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.58	5.58	0.84361	9.423000	0.96699	9.926000	0.82543	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:1.0:0.0	18.718	0.91645	597	0.68309	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	0.02381	719.98	35	chr18	53305666	.	G	A	719.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.440e-01;DP=822;ExcessHet=0.0000;FS=0.891;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.14;ReadPosRankSum=-1.520e+00;SOR=0.574	GT:AD:DP:GQ:PL	0/1:39,32:71:99:734,0,928	20	0	1	0
chr18	59454948	59454948	T	C	exonic	CCBE1	.	nonsynonymous SNV	CCBE1:NM_133459:exon6:c.A557G:p.H186R,	Hennekam lymphangiectasia-lymphedema syndrome 1, Autosomal recessive	.	1	1513	8	0	0	8	0.00263678	.	.	879659	not_provided|CCBE1-related_disorder|Hennekam_lymphangiectasia-lymphedema_syndrome_1	MedGen:C3661900|.|MONDO:MONDO:0009337,MedGen:C4012050,OMIM:235510,Orphanet:2136	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.17	T	0.0	B	0.0	B	0.081	N	1.000	D	0.92	L	-0.35	T	-1.017	T	0.136	T	0.194	-0.046	3.779	1.77	0.049	.	1.380	0.105	0.00985577790729	0.0002	0.000798722	0.0010	0	0.0002	0	0	0.0006	0.0011	0.0051	0.0008861	137	154602	rs115071386	0.0006	0.0006	0.0005	0.0007	0.0042	0.0005	0.0005	0.0038	0.0037	0.0001	0.0004	0.0010	0	0	0.0016	0.0003	0.0008	0.0042	0.0004	0.0004	0.0003	0.0005	0.0023	0.0003	0.0003	0.0013	0.0010	4.813e-05	0	0.0003	0.0017	0.0002	0	0.0034	0.0005	0.0019	0.0023	0.192	0.20988	T	0.358	0.19131	T	0.0	0.02946	B	0.0	0.01387	B	0.081452	0.20865	N	0.505414	0.999999	0.58761	D	1.79	0.46772	L	-0.35	0.68616	T	-1.19	0.30346	N	0.158	0.16447	-1.0169	0.24722	T	0.136	0.45145	T	10	0.0049586296	0.00106	T	0.009856	0.25698	T	0.105	0.29889	.	.	0.659007425792	0.65615	0.44647859913766336	0.44565	0.0774815839062	0.08712	0.384358525276	0.22873	T	0.022505	0.17341	T	-0.449503	0.01137	T	-0.418053	0.31298	T	0.0141161559240722	0.00275	T	0.441056	0.12198	T	0.0345036	0.03885	0.052201126	0.08554	0.0345036	0.03885	0.052201126	0.08553	-2.19	0.03992	T	0.12651052266418664	0.12784	0.064	0.02012	B	.;.;.	.;.;.	1.128147	0.15144	11.62	0.68940301646394486	0.08814	0.05264	0.11102	N	AEFDBCIJ	0.055996	0.10315	N	-0.851005316199243	0.12026	0.583689	-0.836019753879837	0.13624	0.7077709	0.999960463169472	0.48965	0.706298	0.61202	0	0.563428	0.19063	0	0.709663	0.75317	0	0.620846	0.47308	0	.	.	5.63	1.77	0.23848	0.293000	0.18785	0.073000	0.14287	0.665000	0.62972	0.253000	0.24879	0.016000	0.20520	0.720000	0.34772	0.198:0.1002:0.1636:0.5381	1.380	0.02094	945	0.12563	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1683.98	36	chr18	59454948	.	T	C	1683.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.170e+00;DP=872;ExcessHet=0.0000;FS=1.302;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.39;ReadPosRankSum=0.037;SOR=0.571	GT:AD:DP:GQ:PL	0/1:86,76:162:99:1698,0,2420	20	0	1	0
chr18	65824683	65824683	C	G	exonic	CDH7	.	nonsynonymous SNV	CDH7:NM_001317214:exon6:c.C833G:p.A278G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.0	B	0.002	B	0.073	N	0.983	D	-3.46	N	1.84	T	-0.904	T	0.008	T	0.124	-0.621	1.242	3.76	1.045	2.422	13.494	0.155	0.00490096248541	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.002	0.06944	B	0.072800	0.21387	N	0.451193	0.982979	0.39957	D	-3.075	0.00011	N	1.84	0.24656	T	3.87	0.00076	N	0.227	0.25499	-0.9038	0.47583	T	0.008	0.02884	T	10	0.04493016	0.03505	T	0.004901	0.12318	T	0.155	0.40530	0.546	0.66015	0.15499578495	0.15088	0.21276109158363124	0.21192	0.352591177131	0.37089	0.615600824356	0.55106	T	0.044351	0.26789	T	-0.291422	0.09494	T	-0.656384	0.08512	T	0.0723997502850542	0.08984	T	0.824517	0.48627	T	0.09681208	0.22810	0.12931228	0.31094	0.09681208	0.22809	0.12931228	0.31094	3.359	0.00015	T	.	.	0.078	0.06663	B	.;.;.	.;.;.	2.090507	0.26594	17.17	0.15872056406126045	0.00404	0.74711	0.36555	D	AEFDGBI	0.136260	0.25686	N	-0.923050984542219	0.10304	0.4917672	-0.581236897984816	0.19982	1.074571	0.870688873629593	0.25410	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	4.65	3.76	0.42368	1.558000	0.35917	3.329000	0.37611	0.589000	0.31548	0.946000	0.32893	0.998000	0.33993	0.969000	0.54022	0.0:0.7002:0.2998:0.0	13.494	0.60866	994	0.00715	Cadherin-like;Cadherin-like;Cadherin-like	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.5	4590.35	69	chr18	65824683	.	C	G	4590.35	.	AC=20;AF=0.500;AN=40;BaseQRankSum=0.297;DP=1960;ExcessHet=43.6797;FS=200.513;InbreedingCoeff=-0.9189;MLEAC=20;MLEAF=0.500;MQ=60.00;MQRankSum=0.00;QD=2.74;ReadPosRankSum=1.02;SOR=12.568	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:62,25:87:99:.:.:183,0,1384	0	0	20	1
chr18	79373905	79373905	C	G	exonic	ATP9B	.	nonsynonymous SNV	ATP9B:NM_001306085:exon28:c.C3078G:p.I1026M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	D	0.354	B	0.097	B	0.000	D	1.000	D	2.775	M	-0.78	T	-0.794	T	0.230	T	0.523	1.377	10.53	-2.28	-0.455	-0.373	8.239	0.085	0.0345994434534	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0008	0.0038	0.0009	0.0008	0.0010	0.0008	0.0008	0.0010	0.0009	0.0006	2.243e-05	0.0002	0.0001	1.877e-05	0.0007	0.0010	0.0008	0.0003	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.133	0.26409	T	0.131	0.34959	T	0.354	0.33710	B	0.045	0.30390	B	0.000007	0.62929	D	0.106321	1	0.81001	D	.	.	.	-0.78	0.73631	T	-1.25	0.31576	N	0.772	0.80473	-0.7945	0.55467	T	0.230	0.59608	T	10	0.6346408	0.68711	D	0.034599	0.55783	D	0.342	0.66392	0.54	0.65161	0.652458548239	0.64956	0.694288075113171	0.69369	0.260033580267	0.28572	0.683687150478	0.64798	T	0.10075	0.40685	T	-0.0241352	0.48263	T	-0.272445	0.47572	T	0.36296334862709	0.27525	T	0.933407	0.75038	D	0.09914479	0.23395	0.10145065	0.24287	0.09914479	0.23395	0.10145065	0.24286	-6.858	0.52989	T	.	.	0.133	0.28835	B	.;.	.;.	1.363101	0.17722	13.33	0.95841953356481135	0.27968	0.40437	0.26436	N	AEFBI	0.191278	0.31848	N	-0.675120176808742	0.16732	0.8550748	-0.728338547967329	0.16257	0.8591364	0.00264162814707333	0.09600	0.706298	0.61202	0	0.694456	0.67091	0	0.709663	0.75317	0	0.655142	0.61905	0	.	.	4.89	-2.28	0.06438	-0.715000	0.05099	-0.654000	0.08013	-0.182000	0.10109	0.002000	0.15269	0.008000	0.19753	0.773000	0.36634	0.0995:0.4512:0.0:0.4493	8.239	0.30810	.	.	P-type ATPase, C-terminal;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.5	2387.64	32	chr18	79373905	.	C	G	2387.64	.	AC=10;AF=0.500;AN=20;BaseQRankSum=2.00;DP=837;ExcessHet=9.8992;FS=418.465;InbreedingCoeff=-0.4008;MLEAC=16;MLEAF=0.800;MQ=60.00;MQRankSum=0.00;QD=6.15;ReadPosRankSum=1.06;SOR=9.898	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:15,13:28:64:.:.:64,0,116	0	0	10	11
chr19	501743	501743	-	CCCGACACCACCTCCCAGGAGC	exonic	MADCAM1	.	frameshift insertion	MADCAM1:NM_130760:exon4:c.742_743insCCCGACACCACCTCCCAGGAGC:p.P249Rfs*53,	.	.	978	231	47	127	139	440	0.394495	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0003	0.0007	0.0002	0.0008	0	0.0002	0	0	6.5e-06	1	154602	.	0.0056	0.0059	0.0048	0.0063	0.0110	0.0054	0.0054	0.0102	0.0099	0.0025	0.0092	0.0049	0.0104	0.0032	0.0024	0.0048	0.0059	0.0110	0.0062	0.0070	0.0061	0.0063	0.0266	0.0057	0.0055	0.0217	0.0198	0.0045	0.0050	0.0046	0.0039	0.0266	0.0078	0.0165	0.0058	0.0090	0.0049	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7143	46021.53	35	chr19	501743	.	T	TCTCCCGACACCACCTCCCAGGAGCCTCCCGACACCACCTCCCAGGAGC,C,TCCCGACACCACCTCCCAGGAGC	46021.53	.	AC=29,4,1;AF=0.690,0.095,0.024;AN=42;BaseQRankSum=-6.390e-01;DP=1856;ExcessHet=0.5418;FS=0.000;InbreedingCoeff=0.0735;MLEAC=29,4,1;MLEAF=0.690,0.095,0.024;MQ=58.52;MQRankSum=-7.810e-01;QD=29.75;ReadPosRankSum=-1.790e+00;SOR=0.644	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:32,37,0,0:69:99:.:.:1333,0,1151,1435,1261,2696,1435,1261,2696,2696	1	10	5	0
chr19	1478825	1478825	-	ATCCT	exonic	C19orf25	.	frameshift insertion	C19orf25:NM_152482:exon2:c.78_79insAGGAT:p.V27Rfs*27,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1010.94	40	chr19	1478825	.	C	CATCCT	1010.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.250e-01;DP=772;ExcessHet=0.0000;FS=1.166;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=21.06;ReadPosRankSum=-4.100e-02;SOR=0.468	GT:AD:DP:GQ:PL	0/1:22,26:48:99:1025,0,846	20	0	1	0
chr19	1487614	1487614	G	A	exonic	PCSK4	.	nonsynonymous SNV	PCSK4:NM_017573:exon6:c.C671T:p.A224V,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.866	P	0.462	P	0.511	U	1.000	D	2.17	M	-2.79	D	0.476	D	0.705	D	0.573	3.820	19.40	2.4	1.681	7.210	12.420	0.725	0.309526228803	.	.	0	0	0	0	0	0	0	0	6.5e-06	1	154602	rs773970377	2.215e-05	2.531e-05	1.693e-05	2.752e-05	0.0011	1.588e-05	1.383e-05	0.0005	0.0003	0.0001	0	0	0	0	0.0011	9.263e-06	5.168e-05	0.0001	6.57e-06	6.566e-06	0	1.345e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.001	0.78490	D	0.002	0.79402	D	0.866	0.47610	P	0.462	0.46509	P	0.511232	0.11842	U	0.701222	0.999785	0.49076	D	2.015	0.55033	M	-2.79	0.91019	D	-3.51	0.68298	D	0.796	0.79214	0.476	0.90211	D	0.705	0.89856	D	10	0.9618959	0.95609	D	0.309526	0.91141	D	0.725	0.90324	0.86	0.95774	0.853096349313	0.85167	0.7167036698953041	0.71613	0.538891071327	0.51137	0.593929171562	0.52049	T	0.456489	0.79523	T	0.161943	0.70380	D	-0.00515613	0.70001	D	0.942378342151642	0.61651	D	0.965003	0.87031	D	0.51309526	0.67860	0.507551	0.71540	0.51309526	0.67861	0.507551	0.71540	-9.219	0.69095	D	.	.	0.309	0.53724	B	.	.	3.929750	0.57431	23.9	0.99922007465267793	0.98787	0.98841	0.87561	D	AEFBI	0.846234	0.76312	D	0.303836781008114	0.56347	3.799097	0.220136010864965	0.50965	3.283308	0.99996074630231	0.48965	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	6.254000	0.72414	7.361000	0.58346	0.511000	0.23309	1.000000	0.71638	1.000000	0.68203	0.669000	0.33223	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	0	0	0	0	0	0	0	0	0	0	0	0.02381	1115.98	33	chr19	1487614	.	G	A	1115.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.86;DP=920;ExcessHet=0.0000;FS=0.822;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.13;ReadPosRankSum=-5.100e-01;SOR=0.813	GT:AD:DP:GQ:PL	0/1:41,44:85:99:1130,0,925	20	0	1	0
chr19	4298273	4298273	G	A	exonic	TMIGD2	.	nonsynonymous SNV	TMIGD2:NM_001169126:exon2:c.C119T:p.A40V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.087	B	0.023	B	.	.	1.000	N	-0.55	N	1.92	T	-0.970	T	0.019	T	0.088	-0.886	0.468	1.76	0.111	0.529	5.354	0.019	0.00687570128659	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1292163674	2.057e-06	2.736e-06	2.73e-06	1.378e-06	4.479e-05	5.5e-07	1.5e-07	7.42e-06	2.78e-06	0	4.479e-05	0	0	0	0	8.996e-07	0	0	6.572e-06	6.567e-06	0	1.345e-05	6.547e-05	0	0	.	.	0	0	6.547e-05	0	0	0	0	0	0	0	1.0	0.00964	T	1.0	0.01155	T	0.071	0.24971	B	0.014	0.19966	B	.	.	.	.	1	0.08975	N	-0.205	0.04094	N	1.92	0.23082	T	-0.1	0.08495	N	0.158	0.16447	-0.9699	0.37220	T	0.019	0.07753	T	9	0.030538708	0.01181	T	0.006876	0.18177	T	0.019	0.03383	0.308	0.27967	0.170165803431	0.16609	0.3335020927703364	0.33263	0.705363785392	0.61389	0.303542733192	0.10931	T	0.003438	0.02849	T	-0.464112	0.00926	T	-0.728594	0.04391	T	0.0245650446428012	0.01216	T	0.50065	0.15660	T	0.02157564	0.00768	0.036952127	0.03245	0.02157564	0.00768	0.036952127	0.03244	-4.53	0.32447	T	.	.	0.162	0.37858	B	.;.	.;.	0.250765	0.06301	2.759	0.72920344810468629	0.10143	0.00060	0.00440	N	AEFDBI	0.019671	0.00705	N	-1.25654489139142	0.04214	0.1897563	-1.21573654688105	0.05656	0.2701275	0.0919888081450178	0.16148	0.554377	0.28877	0	0.588066	0.40923	0	0.505578	0.09266	0	0.562822	0.20929	0	.	.	4.09	1.76	0.23776	0.545000	0.22976	1.320000	0.25596	0.613000	0.49114	0.000000	0.06391	0.000000	0.08366	0.042000	0.14466	0.7373:0.0:0.2627:0.0	5.354	0.15353	946	0.12043	.;Immunoglobulin V-set domain|Immunoglobulin-like domain|Immunoglobulin subtype	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1866.98	35	chr19	4298273	.	G	A	1866.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-8.560e-01;DP=971;ExcessHet=0.0000;FS=5.084;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=17.13;ReadPosRankSum=-2.910e-01;SOR=0.518	GT:AD:DP:GQ:PL	0/1:34,75:109:99:1881,0,683	20	0	1	0
chr19	4327157	4327157	A	C	exonic	STAP2	.	nonsynonymous SNV	STAP2:NM_001013841:exon8:c.T730G:p.F244V	.	.	413	1106	2	1	0	4	0.00180505	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.997	D	0.998	D	0.000	D	0.971	D	2.33	M	.	.	-0.118	T	0.408	T	0.575	3.012	16.05	5.09	1.924	2.665	11.284	0.450	0.239892465316	7.7e-05	0.000199681	0.0003	0	0	0	0	0.0002	0	0.0014	0.0002523	39	154602	rs374601600	0.0002	0.0002	0.0001	0.0003	0.0019	0.0002	0.0002	0.0017	0.0016	5.974e-05	0.0003	0.0019	0	1.872e-05	0.0005	4.227e-05	0.0003	0.0019	0.0002	0.0002	8.994e-05	0.0003	0.0019	0.0002	0.0001	0.0010	0.0007	0	0	0.0005	0.0026	0	0	0	5.88e-05	0.0014	0.0019	.	.	.	0.001	0.83351	D	0.997	0.70673	D	0.998	0.88582	D	0.000025	0.55875	D	0.156294	0.97137	0.38866	D	3.1	0.87590	M	1.27	0.58613	T	.	.	.	0.708	0.71143	-0.1179	0.79683	T	0.408	0.75734	T	9	0.08193061	0.13467	T	0.239892	0.88650	D	.	.	.	.	0.544825121038	0.54136	0.5811295018992046	0.58041	1.07892995457	0.77079	0.530185699463	0.43060	T	0.745378	0.92981	D	-0.297609	0.08887	T	-0.207055	0.53975	T	0.176572318776576	0.19016	T	0.757724	0.38135	T	0.6420005	0.74938	0.54137087	0.73493	0.6420005	0.74939	0.54137087	0.73494	-13.465	0.91188	D	.	.	0.783	0.77998	P	.;.;.	.;.;.	3.934710	0.57533	23.9	0.9859621826791557	0.43440	0.33847	0.24927	N	AEFDBCI	0.555515	0.56592	D	0.468651608486149	0.65269	4.801	0.372710269846863	0.59888	4.17059	0.999999952599277	0.74766	0.766844	0.99359	0	0.662677	0.63036	0	0.52208	0.10781	0	0.554799	0.18163	0	.	.	5.09	5.09	0.68647	2.000000	0.40435	8.982000	0.78494	0.740000	0.86194	0.999000	0.42656	1.000000	0.68203	0.045000	0.14751	1.0:0.0:0.0:0.0	11.284	0.48448	934	0.15400	.;STAP2, SH2 domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2564.98	37	chr19	4327157	.	A	C	2564.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.483e+00;DP=946;ExcessHet=0.0000;FS=5.159;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.36;ReadPosRankSum=0.472;SOR=0.432	GT:AD:DP:GQ:PL	0/1:95,97:192:99:2579,0,2718	20	0	1	0
chr19	4446624	4446624	C	T	exonic	UBXN6	.	nonsynonymous SNV	UBXN6:NM_001171091:exon8:c.G637A:p.V213M	.	.	398	1114	9	1	0	11	0.00491291	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.999	D	0.955	D	0.007	N	0.846	D	2.39	M	1.69	T	-0.843	T	0.149	T	0.447	2.077	12.90	-1.19	-0.036	0.653	2.320	0.120	0.030847923397	0.0013	0.000399361	0.0014	0.0007	0.0018	0.0001	0.0006	0.0016	0.0093	0.0010	0.0013519	209	154602	rs141014666	0.0013	0.0013	0.0013	0.0014	0.0345	0.0013	0.0013	0.0306	0.0291	0.0012	0.0026	0.0038	7.559e-05	0.0016	0.0345	0.0011	0.0024	0.0010	0.0015	0.0015	0.0013	0.0016	0.0036	0.0013	0.0012	0.0028	0.0026	0.0006	0	0.0036	0.0046	0	0.0012	0.0408	0.0012	0.0076	0.0002	0.006	0.61437	D	0.016	0.60972	D	0.999	0.77913	D	0.929	0.69585	D	0.007040	0.31644	N	0.309310	0.767315	0.35137	D	2.65	0.77586	M	1.69	0.36146	T	-1.61	0.38734	N	0.591	0.61087	-0.8427	0.52466	T	0.149	0.47540	T	10	0.033210248	0.01491	T	0.030848	0.53068	D	0.120	0.33359	.	.	0.531096826648	0.52758	0.3963421874015801	0.39549	0.234667122416	0.26005	0.559426307678	0.47188	T	0.046005	0.27293	T	-0.409673	0.01998	T	-0.365858	0.37374	T	0.0349448666314765	0.02798	T	0.929607	0.73996	D	0.09260657	0.21731	0.102596164	0.24594	0.09260657	0.21730	0.102596164	0.24594	-7.767	0.60633	D	.	.	0.190	0.40905	B	.;.	.;.	2.715746	0.35508	19.92	0.9962136234845973	0.75413	0.27998	0.23433	N	AEFDGBHCI	0.158304	0.28394	N	-0.184897671970675	0.33763	1.919219	-0.44594471491079	0.23664	1.291674	0.984896099831351	0.30793	0.67177	0.52595	0	0.702456	0.74545	0	0.606735	0.37207	0	0.711	0.71501	0	.	.	5.2	-1.19	0.09091	0.480000	0.21954	0.576000	0.19656	0.549000	0.26987	0.053000	0.21524	0.160000	0.23254	0.111000	0.18785	0.2196:0.3286:0.3087:0.1431	2.320	0.03950	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	1	0	0	0	0.02381	2051.98	42	chr19	4446624	.	C	T	2051.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.54;DP=837;ExcessHet=0.0000;FS=3.427;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.96;ReadPosRankSum=0.700;SOR=0.437	GT:AD:DP:GQ:PL	0/1:45,76:121:99:2066,0,988	20	0	1	0
chr19	4511635	4511635	C	0	exonic	PLIN4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.8333	177671.52	322	chr19	4511635	.	C	G,*	177671.52	.	AC=25,1;AF=0.833,0.033;AN=30;BaseQRankSum=-7.580e-01;DP=10056;ExcessHet=0.2174;FS=0.730;InbreedingCoeff=0.2169;MLEAC=32,1;MLEAF=1.00,0.033;MQ=57.70;MQRankSum=-7.188e+00;QD=24.86;ReadPosRankSum=1.56;SOR=0.738	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,437,0:437:99:.:.:13887,1311,0,13887,1311,13887	0	10	4	6
chr19	4511713	4511713	T	0	exonic	PLIN4	.	.	.	.	.	34	3	109	74	6	263	0.977186	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.8462	139194.31	100	chr19	4511713	.	T	C,*	139194.31	.	AC=22,1;AF=0.846,0.038;AN=26;BaseQRankSum=1.87;DP=8565;ExcessHet=0.0976;FS=2.619;InbreedingCoeff=0.3015;MLEAC=31,1;MLEAF=1.00,0.038;MQ=56.56;MQRankSum=-1.881e+00;QD=32.62;ReadPosRankSum=-5.445e+00;SOR=0.966	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:5,109,0:114:99:1|1:4511713_T_C:4558,164,0,4573,328,4736:4511713	0	9	3	8
chr19	4511718	4511718	T	0	exonic	PLIN4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6923	139161.99	105	chr19	4511718	.	T	*,C	139161.99	.	AC=1,18;AF=0.038,0.692;AN=26;BaseQRankSum=2.11;DP=8846;ExcessHet=2.2649;FS=2.542;InbreedingCoeff=-0.0055;MLEAC=1,25;MLEAF=0.038,0.962;MQ=56.65;MQRankSum=-5.673e+00;QD=32.12;ReadPosRankSum=0.575;SOR=0.899	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:18,0,99:117:99:0|1:4511713_T_C:4067,4122,4831,0,710,412:4511713	0	0	0	8
chr19	4544107	4544107	G	C	exonic	SEMA6B	.	nonsynonymous SNV	SEMA6B:NM_032108:exon17:c.C2161G:p.P721A,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07	T	0.886	P	0.577	P	0.024	U	1.000	D	0.55	N	1.9	T	-1.016	T	0.068	T	0.224	3.252	16.91	2.87	1.302	3.614	9.473	0.084	0.7042793723	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	3.42e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.041	0.50514	D	0.886	0.48745	P	0.577	0.50090	P	0.023909	0.01601	U	2.751550	0.631814	0.81001	D	1.1	0.28011	L	1.9	0.23486	T	.	.	.	0.271	0.30687	-1.0164	0.24884	T	0.068	0.28047	T	10	0.34442306	0.51435	T	0.704279	0.97585	D	.	.	0.147	0.05039	0.0675242888579	0.06100	0.19567006727673636	0.19484	3.02109504773	0.99258	0.819174647331	0.84901	D	0.22671	0.59180	T	-0.189192	0.22377	T	-0.509537	0.21363	T	0.742001533508301	0.42845	D	0.466053	0.13673	T	0.10795358	0.25526	0.09651161	0.22934	0.10795358	0.25526	0.09651161	0.22934	-4.659	0.32904	T	.	.	0.066	0.02285	B	.	.	3.179666	0.43155	21.7	0.99474984660874988	0.66525	0.87723	0.47359	D	AEFDBI	0.316535	0.42080	N	0.0770511663113345	0.45394	2.796663	0.0768801990844948	0.43388	2.641615	0.999506312677018	0.40062	0.695654	0.57023	0	0.588066	0.40923	0	0.723109	0.80598	0	0.562822	0.20929	0	.	.	2.87	2.87	0.32523	2.175000	0.42119	8.701000	0.78107	0.495000	0.22486	1.000000	0.71638	1.000000	0.68203	0.967000	0.53440	0.0:0.0:1.0:0.0	9.473	0.38020	952	0.10565	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	39.98	27	chr19	4544107	.	G	C	39.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.183;DP=564;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=3.33;ReadPosRankSum=-8.600e-02;SOR=0.551	GT:AD:DP:GQ:PL	0/1:9,3:12:54:54,0,234	20	0	1	0
chr19	5925710	5925710	C	T	exonic	RANBP3	.	nonsynonymous SNV	RANBP3:NM_001300865:exon9:c.G622A:p.D208N	.	.	433	1083	6	0	0	6	0.00276243	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.37	T	0.98	D	0.564	P	0.004	N	1.000	N	2.14	M	2.17	T	-1.039	T	0.078	T	0.029	3.310	17.13	3.07	0.698	2.911	8.220	0.093	0.0195742054092	0.0055	0.00339457	0.0029	0.0068	0.0012	0	0.0008	0.0035	0.0022	0.0020	0.0031177	482	154602	rs115320782	0.0036	0.0036	0.0036	0.0036	0.0082	0.0035	0.0035	0.0074	0.0071	0.0082	0.0019	0.0018	0	0.0006	0.0080	0.0039	0.0039	0.0023	0.0048	0.0048	0.0050	0.0046	0.0081	0.0045	0.0044	0.0074	0.0071	0.0081	0	0.0040	0.0023	0	9.497e-05	0.0034	0.0045	0.0033	0.0023	0.005	0.65419	D	0.472	0.23707	T	0.98	0.59353	D	0.467	0.49695	P	0.003787	0.34487	N	0.328805	1	0.08975	N	2.25	0.63811	M	1.4	0.33630	T	-0.04	0.09965	N	0.255	0.32701	-1.0388	0.17678	T	0.078	0.30982	T	10	0.004562199	0.00095	T	0.019574	0.41966	T	0.093	0.26882	.	.	0.679392915212	0.67666	0.28106345326371174	0.28019	0.482718603347	0.47231	0.426327586174	0.28706	T	0.037776	0.24600	T	-0.61119	0.00125	T	-0.64417	0.09368	T	0.0221803522844544	0.00930	T	0.90061	0.66351	D	0.038662925	0.05192	0.04200048	0.04901	0.038662925	0.05192	0.04200048	0.04901	-3.708	0.20417	T	.	.	0.065	0.09045	B	.;.;.;.;.	.;.;.;.;.	2.974667	0.39663	21.0	0.99605643164038427	0.74456	0.42326	0.26853	N	AEFBI	0.197326	0.32426	N	-0.173321446461632	0.34248	1.952552	-0.298994844908106	0.28132	1.566118	0.998059588828668	0.36367	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.19	3.07	0.34476	2.972000	0.48948	3.288000	0.37283	0.599000	0.40250	0.550000	0.27346	0.993000	0.31925	0.106000	0.18562	0.0:0.8159:0.0:0.1841	8.220	0.30692	862	0.33134	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	3753.11	40	chr19	5925710	.	C	T	3753.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=2.86;DP=999;ExcessHet=0.1072;FS=12.799;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=13.08;ReadPosRankSum=-5.370e-01;SOR=1.289	GT:AD:DP:GQ:PL	0/1:70,84:154:99:2187,0,1696	19	0	2	0
chr19	6734221	6734221	G	A	exonic	GPR108	.	nonsynonymous SNV	GPR108:NM_001080452:exon5:c.C461T:p.P154L,	.	.	410	1101	10	0	1	11	0.0045208	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.48	T	0.894	P	0.258	B	0.853	U	0.999	D	2.24	M	1.93	T	-0.957	T	0.049	T	0.303	3.548	18.10	3.05	2.032	1.707	9.814	0.079	.	0.0048	0.00419329	0.0038	0.0009	0.0022	0.0003	0.0009	0.0046	0	0.0067	0.0040232	622	154602	rs139348331	0.0063	0.0063	0.0064	0.0062	0.0072	0.0062	0.0061	0.0071	0.0071	0.0009	0.0021	0.0001	7.557e-05	0.0011	0.0043	0.0072	0.0058	0.0065	0.0037	0.0037	0.0038	0.0035	0.0073	0.0034	0.0033	0.0054	0.0052	0.0012	0.0055	0.0032	0	0.0008	0.0009	0.0034	0.0059	0.0019	0.0073	0.22	0.18956	T	0.158	0.31629	T	0.894	0.49185	P	0.258	0.39350	B	0.853454	0.07072	U	1.085260	0.999493	0.47278	D	2.05	0.56469	M	1.93	0.22881	T	-1.02	0.26843	N	0.337	0.37820	-0.9572	0.39699	T	0.049	0.20868	T	10	0.00436759	0.00089	T	.	.	.	0.079	0.23065	.	.	0.484182897458	0.48051	0.26909468916475454	0.26822	0.233007264821	0.25837	0.354487329721	0.18580	T	0.012394	0.10902	T	-0.496014	0.00602	T	-0.481819	0.24253	T	0.0128035230507367	0.00218	T	0.663934	0.27277	T	0.036734853	0.04575	0.046493825	0.06491	0.036734853	0.04575	0.046493825	0.06491	-4.569	0.31779	T	.	.	0.074	0.05231	B	.	.	1.745668	0.22210	15.53	0.99745819510724698	0.83852	0.62166	0.31700	D	ALL	0.044639	0.07208	N	-0.107655233281546	0.37058	2.150687	-0.209886074529591	0.31180	1.762182	0.999999999976254	0.74766	0.643511	0.44296	0	0.643519	0.57511	0	0.688494	0.62686	0	0.591603	0.36755	0	.	.	3.05	3.05	0.34272	1.814000	0.38610	0.852000	0.22147	0.662000	0.56354	0.972000	0.34453	0.348000	0.24457	0.028000	0.12845	0.0:0.0:1.0:0.0	9.814	0.40010	952	0.10565	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	2970.11	39	chr19	6734221	.	G	A	2970.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=2.69;DP=955;ExcessHet=0.1072;FS=1.135;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=13.88;ReadPosRankSum=0.505;SOR=0.576	GT:AD:DP:GQ:PL	0/1:58,53:111:99:1468,0,1539	19	0	2	0
chr19	6734281	6734281	T	C	exonic	GPR108	.	nonsynonymous SNV	GPR108:NM_001080452:exon5:c.A401G:p.Q134R,	.	.	406	1106	9	1	0	11	0.00494827	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.53	T	0.941	P	0.413	B	0.734	U	1.000	D	2.075	M	1.88	T	-1.068	T	0.050	T	0.211	2.471	14.22	3.92	1.648	2.137	9.065	0.100	.	0.0049	0.00419329	0.0039	0.0011	0.0023	0.0004	0.0010	0.0047	0	0.0068	0.0040038	619	154602	rs144129725	0.0063	0.0063	0.0064	0.0062	0.0072	0.0062	0.0061	0.0071	0.0070	0.0010	0.0021	0.0001	7.557e-05	0.0011	0.0042	0.0072	0.0058	0.0065	0.0037	0.0037	0.0038	0.0035	0.0075	0.0034	0.0033	0.0055	0.0052	0.0013	0.0055	0.0032	0	0.0008	0.0009	0.0034	0.0059	0.0019	0.0075	0.495	0.07870	T	0.493	0.11443	T	0.941	0.52883	P	0.413	0.44885	B	0.734258	0.09829	U	0.828605	1	0.81001	D	2.48	0.72069	M	1.88	0.23884	T	-1.57	0.37955	N	0.454	0.49146	-1.0682	0.09813	T	0.050	0.21261	T	10	0.0070121586	0.00160	T	.	.	.	0.100	0.28662	.	.	0.390687800842	0.38684	0.6046379522053114	0.60394	0.247364135573	0.27283	0.458822876215	0.33148	T	0.040168	0.25436	T	-0.533994	0.00364	T	-0.536514	0.18641	T	0.0191371003437567	0.00621	T	0.70113	0.31087	T	0.11732288	0.27659	0.08351023	0.19142	0.11732288	0.27659	0.08351023	0.19142	-3.365	0.14589	T	.	.	0.242	0.47622	B	.	.	2.495277	0.32200	18.97	0.99421346354934392	0.63790	0.75056	0.36733	D	AEFDGBHCI	0.103538	0.20740	N	0.0426731223370819	0.43806	2.666421	-0.00611738651292093	0.39437	2.33837	0.999999999913197	0.74766	0.643511	0.44296	0	0.643519	0.57511	0	0.688494	0.62686	0	0.591603	0.36755	0	.	.	3.92	3.92	0.44525	1.011000	0.29513	4.645000	0.44172	-0.123000	0.13640	0.986000	0.36153	1.000000	0.68203	0.016000	0.10718	0.0:0.0:0.0:1.0	9.065	0.35621	952	0.10565	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	1341.11	39	chr19	6734281	.	T	C	1341.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-1.252e+00;DP=846;ExcessHet=0.1072;FS=0.782;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=11.87;ReadPosRankSum=0.569;SOR=0.591	GT:AD:DP:GQ:PL	0/1:36,22:58:99:525,0,1041	19	0	2	0
chr19	8888803	8888803	G	A	exonic	MUC16	.	stopgain	MUC16:NM_024690:exon56:c.C40696T:p.Q13566X,	.	.	387	1065	65	0	5	70	0.0296128	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.64	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.702	14.99	1.01	0.786	-0.955	7.596	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs749709179	2.751e-06	0.0003	1.368e-06	4.147e-06	2.346e-05	6.4e-07	4.3e-07	3.89e-06	1.46e-06	0	0	0	0	1.892e-05	0	9.032e-07	0	2.346e-05	0.0003	0.0078	0.0003	0.0003	0.0007	0.0003	0.0002	0.0003	0.0002	0.0004	0	0.0002	0.0003	0.0006	0.0003	0	0.0003	0.0015	0.0007	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.853	0.84922	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.382006	0.88838	D	0.310949	0.88697	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive	High	8.510432	0.97656	37	0.99651539778950882	0.77317	0.04167	0.09661	N	AEFDBI	0.050545	0.08845	N	0.108967690324694	0.46882	2.921777	-0.235756191989301	0.30265	1.702583	7.40119793528929E-5	0.04552	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	3.48	1.01	0.19044	-1.404000	0.02601	.	.	-0.183000	0.09960	0.000000	0.06391	0.000000	0.08366	0.014000	0.10232	0.0:0.0:0.5377:0.4623	7.596	0.27215	952	0.10565	SEA domain|SEA domain|SEA domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.2143	9208.93	410	chr19	8888803	.	G	A	9208.93	.	AC=9;AF=0.214;AN=42;BaseQRankSum=-1.183e+00;DP=10099;ExcessHet=4.7172;FS=0.000;InbreedingCoeff=-0.2685;MLEAC=9;MLEAF=0.214;MQ=57.32;MQRankSum=-7.194e+00;QD=2.03;ReadPosRankSum=1.87;SOR=0.651	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:374,94:468:99:0|1:8888803_G_A:2465,0,14688:8888803	12	0	9	0
chr19	8888822	8888826	GCTTT	0	exonic	MUC16	.	.	.	.	.	412	698	370	1	41	413	0.210407	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	23587.18	358	chr19	8888822	.	GCTTT	G,*,TCTTT	23587.18	.	AC=17,3,1;AF=0.405,0.071,0.024;AN=42;BaseQRankSum=1.15;DP=9724;ExcessHet=54.0936;FS=9.916;InbreedingCoeff=-1.0000;MLEAC=17,3,1;MLEAF=0.405,0.071,0.024;MQ=57.12;MQRankSum=-1.109e+01;QD=2.75;ReadPosRankSum=0.578;SOR=1.311	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:264,78,94,0:436:99:0|1:8888803_G_A:2714,229,11077,0,7895,10720,3450,11293,11032,14484:8888803	0	0	17	0
chr19	8888826	8888826	T	0	exonic	MUC16	.	.	.	.	.	415	770	176	0	161	337	0.102564	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4762	1541.22	352	chr19	8888826	.	T	*,TCCGA	1541.22	.	AC=19,1;AF=0.452,0.024;AN=42;BaseQRankSum=2.89;DP=8436;ExcessHet=43.6797;FS=10.909;InbreedingCoeff=-0.9091;MLEAC=19,1;MLEAF=0.452,0.024;MQ=57.52;MQRankSum=-9.389e+00;QD=0.19;ReadPosRankSum=0.933;SOR=1.413	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:252,66,65:383:42:0|1:8888826_T_*:2013,0,10383,42,7852,10428:8888826	1	0	19	0
chr19	8900017	8900017	C	G	exonic	MUC16	.	nonsynonymous SNV	MUC16:NM_024690:exon38:c.G38968C:p.D12990H,	.	.	419	985	117	1	0	119	0.0569651	.	.	3206446	MUC16-related_disorder	.	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0	D	0.289	B	0.104	B	.	.	.	.	0.85	L	4.62	T	-0.937	T	0.005	T	0.187	-0.708	0.946	-2.32	-0.921	-3.230	2.997	0.059	0.000862686160426	.	.	.	.	.	.	.	.	.	.	.	.	.	rs796074138	0	8.209e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	5.687e-05	0.0074	4.13e-05	7.351e-05	7.994e-05	2.742e-05	2.063e-05	2.119e-05	1.087e-05	7.994e-05	0	0	0	0	0.0003	0	3.068e-05	0	0	0.039	0.42487	D	0.066	0.44501	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	4.62	0.01834	T	0.49	0.02993	N	0.092	0.07125	-0.9370	0.43088	T	0.005	0.01506	T	8	0.0807575	0.13143	T	8.63E-4	0.00755	T	0.059	0.16972	0.123	0.02942	0.0401082797425	0.02173	0.1591635644427814	0.15837	.	.	0.225260436535	0.01636	T	.	.	.	-0.333606	0.05843	T	-0.716979	0.04943	T	0.120735882775226	0.14502	T	0.155884	0.01367	T	.	.	.	.	.	.	.	.	-5.876	0.45230	T	.	.	0.121	0.25199	B	.	.	-0.654509	0.01430	0.085	0.20142462625377641	0.00711	0.00266	0.01451	N	AEFBI	0.033829	0.04085	N	-1.20853826975404	0.04874	0.2209404	-1.39093098480509	0.03348	0.1559778	2.77626904626202E-5	0.03498	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.16	-2.32	0.06360	-4.258000	0.00301	.	.	-2.147000	0.00375	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.3314:0.4146:0.254:0.0	2.997	0.05636	940	0.13648	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.3095	2350.15	47	chr19	8900017	.	C	G	2350.15	.	AC=13;AF=0.310;AN=42;BaseQRankSum=0.351;DP=3884;ExcessHet=11.8493;FS=0.993;InbreedingCoeff=-0.4483;MLEAC=13;MLEAF=0.310;MQ=59.12;MQRankSum=-1.468e+01;QD=0.70;ReadPosRankSum=1.95;SOR=1.002	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:240,20:260:99:0|1:8900009_C_T:117,0,9977:8900009	8	0	13	0
chr19	8906310	8906310	C	G	exonic	MUC16	.	nonsynonymous SNV	MUC16:NM_024690:exon27:c.G38009C:p.S12670T,	.	YES	426	1063	32	1	0	34	0.0157407	.	.	2752290	Ovarian_cancer	MONDO:MONDO:0008170,MedGen:C1140680,OMIM:167000,Orphanet:213500	no_assertion_criteria_provided	Likely_pathogenic	.	.	.	.	.	.	.	.	0	D	0.0	B	0.0	B	.	.	.	.	-1.7	N	4.57	T	-0.910	T	0.002	T	0.051	-0.075	3.636	-1.23	-0.748	-0.381	0.617	0.053	0.00246779091888	.	0.000199681	1.681e-05	0.0001	8.66e-05	0	0	0	0	0	3.84e-05	1	26028	rs565425582	1.644e-05	2.941e-05	1.772e-05	1.514e-05	2.52e-05	1.112e-05	9.34e-06	1.296e-05	1.107e-05	0	2.242e-05	0	2.52e-05	0	0	1.98e-05	0	0	4.176e-05	0.0026	5.432e-05	2.855e-05	0.0001	1.799e-05	1.184e-05	3.51e-05	2.123e-05	0.0001	0	0	0	0	0	0	3.066e-05	0	0	1.0	0.00964	T	0.139	0.33666	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	4.57	0.01917	T	1.25	0.01011	N	0.113	0.10056	-0.9100	0.46854	T	0.002	0.00676	T	8	0.033523023	0.01532	T	0.002468	0.04896	T	0.053	0.14996	0.176	0.08257	0.0297737177859	0.01360	0.07544984530033015	0.07480	.	.	0.284053891897	0.08063	T	.	.	.	-0.547718	0.00301	T	-0.842388	0.01063	T	0.0276999553474265	0.01645	T	0.143886	0.01170	T	.	.	.	.	.	.	.	.	-0.597	0.00646	T	.	.	0.062	0.01215	B	.	.	0.261277	0.06395	2.864	0.32924370785203677	0.01934	0.00006	0.00120	N	AEFBI	0.008428	0.00039	N	-1.59481043750724	0.01290	0.05618882	-1.61343246278626	0.01576	0.07143936	1.53118084225164E-5	0.02871	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	1.48	-1.23	0.08977	-0.346000	0.07809	.	.	-1.191000	0.01374	0.001000	0.13787	0.000000	0.08366	0.091000	0.17840	0.1779:0.2378:0.3437:0.2407	0.617	0.00722	934	0.15400	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02778	379.11	110	chr19	8906310	.	C	G	379.11	.	AC=1;AF=0.028;AN=36;BaseQRankSum=-9.420e-01;DP=1797;ExcessHet=0.0000;FS=12.219;InbreedingCoeff=-0.0646;MLEAC=1;MLEAF=0.028;MQ=58.80;MQRankSum=-1.042e+01;QD=2.73;ReadPosRankSum=-1.122e+00;SOR=0.926	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:121,18:139:99:0|1:8906306_G_A:392,0,5023:8906306	17	0	1	3
chr19	8906323	8906323	G	A	exonic	MUC16	.	nonsynonymous SNV	MUC16:NM_024690:exon27:c.C37996T:p.P12666S,	.	.	428	1055	38	1	0	40	0.0186047	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.0	B	0.0	B	.	.	.	.	-2.085	N	4.52	T	-0.923	T	0.002	T	0.054	-0.265	2.727	0.419	-0.350	0.140	4.268	0.027	0.00247585488613	.	.	1.687e-05	0.0001	8.658e-05	0	0	0	0	0	1.29e-05	2	154602	rs762490369	1.713e-05	5.336e-05	1.772e-05	1.653e-05	2.52e-05	1.176e-05	9.94e-06	1.379e-05	1.152e-05	0	2.245e-05	0	2.52e-05	0	0	2.071e-05	0	0	4.24e-05	0.0059	4.138e-05	4.346e-05	0.0001	1.822e-05	1.199e-05	3.556e-05	2.154e-05	0.0001	0	0	0	0	0	0	3.104e-05	0	0	0.261	0.16520	T	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	4.52	0.01997	T	0.2	0.04861	N	0.092	0.07125	-0.9233	0.45098	T	0.002	0.00676	T	8	0.057982862	0.06746	T	0.002476	0.04896	T	0.027	0.05988	0.184	0.09259	0.0297737177859	0.01360	0.08237352206848209	0.08172	.	.	0.263990014791	0.05375	T	.	.	.	-0.536376	0.00352	T	-0.839115	0.01112	T	0.0242580187876096	0.01178	T	0.180682	0.01803	T	.	.	.	.	.	.	.	.	0.883	0.00148	T	.	.	0.076	0.06069	B	.	.	0.362648	0.07355	3.971	0.31856550423288121	0.01817	0.00006	0.00120	N	AEFBI	0.009687	0.00059	N	-1.5920726816332	0.01304	0.05680634	-1.57521878403105	0.01808	0.08232029	9.67824463248396E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	1.48	0.419	0.15657	-0.191000	0.09598	.	.	-0.953000	0.02023	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.562:0.0:0.438:0.0	4.268	0.10218	934	0.15400	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.07895	430.29	122	chr19	8906323	.	G	A	430.29	.	AC=3;AF=0.079;AN=38;BaseQRankSum=-5.900e-01;DP=2031;ExcessHet=0.3300;FS=7.018;InbreedingCoeff=-0.1136;MLEAC=3;MLEAF=0.079;MQ=58.84;MQRankSum=-1.098e+01;QD=1.07;ReadPosRankSum=-7.140e-01;SOR=1.041	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:139,19:158:99:0|1:8906306_G_A:379,0,5779:8906306	16	0	3	2
chr19	8906325	8906325	A	C	exonic	MUC16	.	nonsynonymous SNV	MUC16:NM_024690:exon27:c.T37994G:p.I12665S,	.	.	429	1045	47	1	0	49	0.0229079	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.0	B	0.0	B	.	.	.	.	-1.905	N	4.5	T	-0.830	T	0.002	T	0.097	-1.387	0.024	-2.96	-3.727	-5.812	7.234	0.018	0.0038760848155	.	.	.	.	.	.	.	.	.	.	.	.	.	rs759086518	0	3.625e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	4.251e-05	0.0063	4.15e-05	4.357e-05	0.0002	1.826e-05	1.202e-05	3.56e-05	2.156e-05	0.0001	0	0	0	0.0002	0	0	1.556e-05	0	0	0.826	0.02913	T	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	4.5	0.02032	T	0.44	0.03243	N	0.074	0.04790	-0.8304	0.53276	T	0.002	0.00738	T	8	0.04098645	0.02714	T	0.003876	0.09086	T	0.018	0.03083	0.31	0.28289	0.170165803431	0.16609	0.11517879774076815	0.11445	.	.	0.232001110911	0.02120	T	.	.	.	-0.408333	0.02040	T	-0.824318	0.01367	T	0.0416706942861189	0.03995	T	0.152385	0.01298	T	.	.	.	.	.	.	.	.	0.068	0.00326	T	.	.	0.085	0.10400	B	.	.	-0.401111	0.02208	0.221	0.45356006519564063	0.03554	0.00037	0.00318	N	AEFBI	0.009398	0.00054	N	-2.70207499388071	0.00005	0.0002332206	-2.71802947991178	0.00007	0.000320448	0.0912899574800445	0.16130	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	-5.644000	0.00129	.	.	-4.429000	0.00030	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1528:0.3792:0.4679:0.0	7.234	0.25234	934	0.15400	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.08333	422.15	125	chr19	8906325	.	A	C	422.15	.	AC=3;AF=0.083;AN=36;BaseQRankSum=-6.810e-01;DP=2100;ExcessHet=0.3300;FS=5.370;InbreedingCoeff=-0.1238;MLEAC=3;MLEAF=0.083;MQ=58.89;MQRankSum=-1.169e+01;QD=1.04;ReadPosRankSum=-7.480e-01;SOR=1.021	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:139,19:158:99:0|1:8906306_G_A:379,0,5779:8906306	15	0	3	3
chr19	8906329	8906329	A	G	exonic	MUC16	.	nonsynonymous SNV	MUC16:NM_024690:exon27:c.T37990C:p.W12664R,	.	.	426	1037	58	1	0	60	0.0281162	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.0	B	0.0	B	.	.	.	.	-1.2	N	1.56	T	-1.012	T	0.021	T	0.117	-0.969	0.308	-2.96	-2.363	-1.255	4.013	0.022	0.00123485330843	.	.	1.69e-05	0.0001	8.66e-05	0	0	0	0	0	3.84e-05	1	26028	rs752664873	1.713e-05	7.251e-05	1.909e-05	1.516e-05	2.52e-05	1.176e-05	9.94e-06	1.379e-05	1.152e-05	0	2.246e-05	0	2.52e-05	0	0	2.071e-05	0	0	9.122e-05	0.0074	9.589e-05	8.632e-05	0.0002	5.38e-05	4.211e-05	6.784e-05	4.563e-05	0.0002	0	0	0	0.0002	0.0001	0	7.725e-05	0	0	1.0	0.00964	T	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.56	0.29602	T	1.73	0.00557	N	0.164	0.17278	-1.0123	0.26196	T	0.021	0.08917	T	8	0.05845517	0.06874	T	0.001235	0.01633	T	0.022	0.04323	0.511	0.60846	0.0666544352282	0.05500	0.12290162140986033	0.12216	.	.	0.17153711617	0.00038	T	.	.	.	-0.364945	0.03858	T	-0.761995	0.03041	T	0.0350373052446737	0.02814	T	0.0657934	0.00479	T	.	.	.	.	.	.	.	.	0.629	0.00188	T	.	.	0.081	0.08417	B	.	.	0.120328	0.05179	1.696	0.50828146212189185	0.04453	0.00012	0.00170	N	AEFBI	0.011720	0.00110	N	-2.20480432650005	0.00075	0.003199722	-2.24327977203405	0.00089	0.003930338	8.9415780060643E-4	0.07974	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	1.48	-2.96	0.05212	-1.082000	0.03510	.	.	-6.395000	0.00004	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.5741:0.0:0.2467:0.1792	4.013	0.09120	934	0.15400	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.1053	676.79	128	chr19	8906329	.	A	G	676.79	.	AC=4;AF=0.105;AN=38;BaseQRankSum=-1.217e+00;DP=2113;ExcessHet=0.6776;FS=9.405;InbreedingCoeff=-0.1354;MLEAC=4;MLEAF=0.105;MQ=58.89;MQRankSum=-1.215e+01;QD=1.15;ReadPosRankSum=-1.056e+00;SOR=1.361	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:139,20:159:99:0|1:8906306_G_A:421,0,5776:8906306	15	0	4	2
chr19	8950311	8950311	G	A	exonic	MUC16	.	nonsynonymous SNV	MUC16:NM_024690:exon3:c.C26459T:p.T8820I,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.565	P	0.064	B	.	.	.	.	0.895	L	1.56	T	-1.044	T	0.038	T	0.186	-0.099	3.515	-0.287	0.022	-0.276	4.904	0.034	0.00128604113111	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs780901603	6.842e-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	0.056	0.46632	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.56	0.29602	T	-0.33	0.12472	N	0.051	0.02272	-1.0444	0.16000	T	0.038	0.16591	T	8	0.083120584	0.13792	T	0.001286	0.01759	T	0.034	0.08419	0.208	0.12497	0.0762999501168	0.06990	0.11887736709278562	0.11814	.	.	0.268447011709	0.05939	T	.	.	.	-0.259143	0.13000	T	-0.610018	0.11983	T	0.0762434145528715	0.09500	T	0.226677	0.03000	T	.	.	.	.	.	.	.	.	-6.34	0.49039	T	.	.	0.221	0.45199	B	.	.	0.513669	0.08826	5.603	0.24903850941138744	0.01123	0.01646	0.05293	N	AEFBI	0.019163	0.00641	N	-1.08633393906722	0.06894	0.3186926	-1.22404862246275	0.05525	0.2635118	9.33688786746802E-5	0.04910	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	2.12	-0.287	0.12222	-0.083000	0.11250	.	.	-0.269000	0.06763	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.3342:0.0:0.6658:0.0	4.904	0.13144	917	0.20147	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2618.98	103	chr19	8950311	.	G	A	2618.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.441e+00;DP=2818;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.59;ReadPosRankSum=0.348;SOR=0.658	GT:AD:DP:GQ:PL	0/1:105,103:208:99:2633,0,2850	20	0	1	0
chr19	9854801	9854801	G	C	exonic	OLFM2	.	nonsynonymous SNV	OLFM2:NM_001304348:exon5:c.C516G:p.D172E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	D	1.0	D	0.000	D	1.000	D	2.205	M	-2.4	D	0.529	D	0.766	D	0.191	3.487	17.84	3.42	1.086	0.954	10.135	0.597	0.0792427157215	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.037	0.43085	D	0.012	0.63918	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	0.999582	0.47691	D	2.47	0.71715	M	-2.4	0.88455	D	-2.05	0.47008	N	0.312	0.38438	0.529	0.90956	D	0.766	0.92023	D	9	0.6964848	0.72176	D	0.079243	0.73189	D	0.597	0.84019	0.571	0.69431	0.616309752723	0.61320	.	.	1.45215106663	0.86188	0.682164549828	0.64580	T	0.374173	0.82387	T	0.00502319	0.52346	T	-0.230561	0.51717	T	0.97174608707428	0.69433	D	0.971303	0.89644	D	0.22800027	0.45511	0.21998447	0.46757	0.22800027	0.45511	0.21998447	0.46756	-8.617	0.65202	D	.	.	0.696	0.81000	P	.;.;.	.;.;.	3.698712	0.52737	23.3	0.99704958505600771	0.80936	0.86476	0.45764	D	AEFDBI	0.465642	0.51363	N	0.404831549550597	0.61688	4.373243	0.331328797368957	0.57388	3.904456	0.053917881777599	0.14954	0.650006	0.45971	0	0.550933	0.16991	0	0.606735	0.37207	0	0.567892	0.33627	0	.	.	4.45	3.42	0.38259	0.721000	0.25580	.	.	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0978:0.0:0.9022:0.0	10.135	0.41876	878	0.29785	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	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.07895	319.99	101	chr19	9854801	.	G	C	319.99	.	AC=3;AF=0.079;AN=38;BaseQRankSum=-3.842e+00;DP=2362;ExcessHet=0.3300;FS=191.227;InbreedingCoeff=-0.1394;MLEAC=3;MLEAF=0.079;MQ=60.00;MQRankSum=0.00;QD=0.88;ReadPosRankSum=1.04;SOR=11.722	GT:AD:DP:GQ:PL	0/1:82,41:138:99:130,0,1582	16	0	3	2
chr19	11359694	11359694	C	G	exonic	PLPPR2	.	nonsynonymous SNV	PLPPR2:NM_001170635:exon4:c.C154G:p.L52V	.	.	429	1067	24	2	0	28	0.012951	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.95	T	0.791	P	0.338	B	0.000	D	0.999	D	1.24	L	1.31	T	-1.050	T	0.059	T	0.282	-0.006	3.984	1.87	0.212	2.213	10.376	0.068	.	0.0035	0.00798722	0.0089	0.0010	0.0026	0	0.0005	0.0057	0.0047	0.0463	0.0079947	1236	154602	rs72992932	0.0066	0.0067	0.0056	0.0077	0.0391	0.0065	0.0065	0.0380	0.0376	0.0007	0.0030	0.0034	0	0.0009	0.0098	0.0050	0.0069	0.0391	0.0041	0.0041	0.0036	0.0046	0.0340	0.0038	0.0037	0.0297	0.0281	0.0008	0.0066	0.0052	0.0037	0	0.0004	0.0034	0.0046	0.0047	0.0340	0.591	0.05790	T	0.605	0.22561	T	0.791	0.44643	P	0.338	0.42306	B	0.000322	0.45700	D	0.150109	0.99914	0.46174	D	.	.	.	1.31	0.35590	T	-1.06	0.27669	N	0.447	0.51405	-1.0499	0.14425	T	0.059	0.24612	T	10	0.005675763	0.00126	T	.	.	.	0.068	0.19811	.	.	0.0716867268079	0.06686	0.7992449369345836	0.79877	1.25605872944	0.81899	0.676699638367	0.63795	T	0.023934	0.22691	T	-0.518016	0.00452	T	-0.487594	0.23643	T	0.0187988301589473	0.00591	T	0.914708	0.69569	D	0.046659447	0.07847	0.056713566	0.10183	0.046659447	0.07847	0.056713566	0.10182	-7.159	0.55186	T	.	.	0.104	0.23255	B	.;.;.;.	.;.;.;.	1.693568	0.21574	15.26	0.60616280905522979	0.06506	0.81471	0.40868	D	AEFDGBHI	0.405200	0.47818	N	-0.361230476343659	0.26861	1.469306	-0.32870950022154	0.27176	1.506141	0.999954887531221	0.48110	0.706298	0.61202	0	0.709663	0.81188	0	0.723109	0.80598	0	0.562822	0.20929	0	.	.	5.27	1.87	0.24559	1.280000	0.32807	.	.	0.587000	0.30956	0.991000	0.37257	0.936000	0.28664	0.395000	0.26670	0.0:0.7779:0.0:0.2221	10.376	0.43262	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	0.02381	2555.98	33	chr19	11359694	.	C	G	2555.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.360e-01;DP=899;ExcessHet=0.0000;FS=1.810;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.52;ReadPosRankSum=-2.820e-01;SOR=0.876	GT:AD:DP:GQ:PL	0/1:98,91:189:99:2570,0,2771	20	0	1	0
chr19	11447529	11447531	GAG	-	exonic	PRKCSH	.	nonframeshift deletion	PRKCSH:NM_001289102:exon10:c.940_942del:p.E325del	Polycystic liver disease 1, Autosomal dominant	.	0	61	87	26	52	191	0.532567	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5476	61194.9	119	chr19	11447525	.	AGAGGAG	A,AGAG	61194.9	.	AC=5,21;AF=0.119,0.500;AN=42;BaseQRankSum=-4.730e-01;DP=3206;ExcessHet=4.5793;FS=1.171;InbreedingCoeff=-0.2115;MLEAC=5,21;MLEAF=0.119,0.500;MQ=60.00;MQRankSum=0.00;QD=26.39;ReadPosRankSum=0.563;SOR=0.619	GT:AD:DP:GQ:PL	0/2:60,2,46:108:99:1712,1823,4435,0,2366,2273	2	0	2	0
chr19	12430730	12430730	A	0	exonic	ZNF443	.	.	.	.	.	412	412	423	155	120	853	0.470777	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	57518.43	140	chr19	12430730	.	A	C,*	57518.43	.	AC=18,3;AF=0.429,0.071;AN=42;BaseQRankSum=-2.194e+00;DP=3284;ExcessHet=2.0051;FS=0.000;InbreedingCoeff=-0.0476;MLEAC=18,3;MLEAF=0.429,0.071;MQ=58.31;MQRankSum=-5.036e+00;QD=22.67;ReadPosRankSum=-5.040e-01;SOR=0.687	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,199,0:199:99:1|1:12430718_C_A:8955,599,0,8955,599,8955:12430718	5	4	10	0
chr19	12464013	12464013	C	T	exonic	ZNF709	.	nonsynonymous SNV	ZNF709:NM_152601:exon4:c.G1909A:p.V637I,	.	.	428	1082	12	0	0	12	0.00551471	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.0	B	0.002	B	.	.	1.000	N	-0.65	N	3.07	T	-0.977	T	0.006	T	0.041	-1.840	0.009	-5.15	-2.304	0.133	7.232	0.013	0.000967509020786	0.0009	0.00159744	0.0022	0.0003	0.0002	0	0.0005	0.0025	0.0025	0.0079	0.0019081	295	154602	rs148951852	0.0015	0.0016	0.0013	0.0018	0.0089	0.0015	0.0015	0.0083	0.0080	3.385e-05	0.0001	0.0002	0	0.0013	0.0048	0.0013	0.0015	0.0089	0.0013	0.0013	0.0011	0.0014	0.0078	0.0011	0.0011	0.0058	0.0051	9.723e-05	0	0.0001	0	0	0.0014	0	0.0019	0.0005	0.0078	0.493	0.07920	T	1.0	0.01155	T	0.0	0.02946	B	0.002	0.06944	B	.	.	.	.	1	0.08975	N	-0.445	0.02820	N	3.07	0.08547	T	-0.27	0.11366	N	0.018	0.00252	-0.9765	0.35794	T	0.006	0.02206	T	9	0.0040544868	0.00079	T	9.68E-4	0.01003	T	0.013	0.01715	.	.	0.0846915920261	0.08053	0.0056723854926779	0.00537	0.273427622127	0.29844	0.326258182526	0.14368	T	0.023265	0.17791	T	-0.760131	0.00015	T	-0.858537	0.00859	T	0.000625639478516926	0.00006	T	0.0748925	0.00548	T	0.019713074	0.00507	0.067255996	0.13890	0.019713074	0.00507	0.067255996	0.13889	-0.116	0.00392	T	.	.	0.070	0.03407	B	.;.	.;.	-0.646390	0.01450	0.088	0.72995583462683189	0.10170	0.01503	0.04977	N	AEFDBCI	0.019548	0.00689	N	-2.09860675845974	0.00129	0.005526622	-2.13964118378213	0.00153	0.006710481	0.0055880345274098	0.10984	0.554377	0.28877	0	0.546412	0.12157	0	0.602189	0.34648	0	0.491896	0.07777	0	.	.	2.57	-5.15	0.02648	-0.764000	0.04841	.	.	-0.870000	0.02561	0.000000	0.06391	0.000000	0.08366	0.011000	0.09372	0.1176:0.4568:0.0:0.4256	7.232	0.25224	923	0.18507	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	0.04762	2731.11	40	chr19	12464013	.	C	T	2731.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.18;DP=1163;ExcessHet=0.1072;FS=5.874;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=12.19;ReadPosRankSum=-2.330e-01;SOR=1.085	GT:AD:DP:GQ:PL	0/1:70,62:132:99:1635,0,1764	19	0	2	0
chr19	13207871	13207876	CTGCTG	-	exonic	CACNA1A	.	nonframeshift deletion	CACNA1A:NM_001127222:exon47:c.6958_6963del:p.Q2324_Q2325del,	Epileptic encephalopathy, early infantile, 42, Autosomal dominant;Episodic ataxia, type 2, Autosomal dominant;Migraine, familial hemiplegic, 1, Autosomal dominant;Migraine, familial hemiplegic, 1, with progressive cerebellar ataxia, Autosomal dominant;Spinocerebellar ataxia 6, Autosomal dominant	.	212	414	236	221	439	1117	0.450199	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5476	19269.49	27	chr19	13207858	.	CCTGCTGCTGCTGCTGCTG	CCTGCTGCTGCTG,CCTGCTGCTGCTGCTG,C,CCTGCTGCTGCTGCTGCTGCTG,CCTGCTGCTG,CCTG	19269.49	.	AC=17,5,4,1,1,1;AF=0.405,0.119,0.095,0.024,0.024,0.024;AN=42;BaseQRankSum=-2.880e-01;DP=833;ExcessHet=1.3217;FS=4.403;InbreedingCoeff=-0.0027;MLEAC=17,5,4,1,1,1;MLEAF=0.405,0.119,0.095,0.024,0.024,0.024;MQ=60.00;MQRankSum=0.00;QD=33.17;ReadPosRankSum=0.136;SOR=0.391	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,28,0,0,0,0,0:28:85:.:.:1241,85,0,1241,85,1241,1241,85,1241,1241,1241,85,1241,1241,1241,1241,85,1241,1241,1241,1241,1241,85,1241,1241,1241,1241,1241	2	3	6	0
chr19	13207874	13207876	CTG	-	exonic	CACNA1A	.	nonframeshift deletion	CACNA1A:NM_001127222:exon47:c.6958_6960del:p.Q2325del,	Epileptic encephalopathy, early infantile, 42, Autosomal dominant;Episodic ataxia, type 2, Autosomal dominant;Migraine, familial hemiplegic, 1, Autosomal dominant;Migraine, familial hemiplegic, 1, with progressive cerebellar ataxia, Autosomal dominant;Spinocerebellar ataxia 6, Autosomal dominant	.	212	414	236	221	439	1117	0.450199	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5476	19269.49	27	chr19	13207858	.	CCTGCTGCTGCTGCTGCTG	CCTGCTGCTGCTG,CCTGCTGCTGCTGCTG,C,CCTGCTGCTGCTGCTGCTGCTG,CCTGCTGCTG,CCTG	19269.49	.	AC=17,5,4,1,1,1;AF=0.405,0.119,0.095,0.024,0.024,0.024;AN=42;BaseQRankSum=-2.880e-01;DP=833;ExcessHet=1.3217;FS=4.403;InbreedingCoeff=-0.0027;MLEAC=17,5,4,1,1,1;MLEAF=0.405,0.119,0.095,0.024,0.024,0.024;MQ=60.00;MQRankSum=0.00;QD=33.17;ReadPosRankSum=0.136;SOR=0.391	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,28,0,0,0,0,0:28:85:.:.:1241,85,0,1241,85,1241,1241,85,1241,1241,1241,85,1241,1241,1241,1241,85,1241,1241,1241,1241,1241,85,1241,1241,1241,1241,1241	2	3	6	0
chr19	13207876	13207876	-	CTG	exonic	CACNA1A	.	nonframeshift insertion	CACNA1A:NM_001127222:exon47:c.6957_6958insCAG:p.Q2325_A2326insQ,	Epileptic encephalopathy, early infantile, 42, Autosomal dominant;Episodic ataxia, type 2, Autosomal dominant;Migraine, familial hemiplegic, 1, Autosomal dominant;Migraine, familial hemiplegic, 1, with progressive cerebellar ataxia, Autosomal dominant;Spinocerebellar ataxia 6, Autosomal dominant	.	212	414	236	221	439	1117	0.450199	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5476	19269.49	27	chr19	13207858	.	CCTGCTGCTGCTGCTGCTG	CCTGCTGCTGCTG,CCTGCTGCTGCTGCTG,C,CCTGCTGCTGCTGCTGCTGCTG,CCTGCTGCTG,CCTG	19269.49	.	AC=17,5,4,1,1,1;AF=0.405,0.119,0.095,0.024,0.024,0.024;AN=42;BaseQRankSum=-2.880e-01;DP=833;ExcessHet=1.3217;FS=4.403;InbreedingCoeff=-0.0027;MLEAC=17,5,4,1,1,1;MLEAF=0.405,0.119,0.095,0.024,0.024,0.024;MQ=60.00;MQRankSum=0.00;QD=33.17;ReadPosRankSum=0.136;SOR=0.391	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,28,0,0,0,0,0:28:85:.:.:1241,85,0,1241,85,1241,1241,85,1241,1241,1241,85,1241,1241,1241,1241,85,1241,1241,1241,1241,1241,85,1241,1241,1241,1241,1241	2	3	6	0
chr19	13207868	13207876	CTGCTGCTG	-	exonic	CACNA1A	.	nonframeshift deletion	CACNA1A:NM_001127222:exon47:c.6958_6966del:p.Q2323_Q2325del,	Epileptic encephalopathy, early infantile, 42, Autosomal dominant;Episodic ataxia, type 2, Autosomal dominant;Migraine, familial hemiplegic, 1, Autosomal dominant;Migraine, familial hemiplegic, 1, with progressive cerebellar ataxia, Autosomal dominant;Spinocerebellar ataxia 6, Autosomal dominant	.	212	414	236	221	439	1117	0.450199	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5476	19269.49	27	chr19	13207858	.	CCTGCTGCTGCTGCTGCTG	CCTGCTGCTGCTG,CCTGCTGCTGCTGCTG,C,CCTGCTGCTGCTGCTGCTGCTG,CCTGCTGCTG,CCTG	19269.49	.	AC=17,5,4,1,1,1;AF=0.405,0.119,0.095,0.024,0.024,0.024;AN=42;BaseQRankSum=-2.880e-01;DP=833;ExcessHet=1.3217;FS=4.403;InbreedingCoeff=-0.0027;MLEAC=17,5,4,1,1,1;MLEAF=0.405,0.119,0.095,0.024,0.024,0.024;MQ=60.00;MQRankSum=0.00;QD=33.17;ReadPosRankSum=0.136;SOR=0.391	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,28,0,0,0,0,0:28:85:.:.:1241,85,0,1241,85,1241,1241,85,1241,1241,1241,85,1241,1241,1241,1241,85,1241,1241,1241,1241,1241,85,1241,1241,1241,1241,1241	2	3	6	0
chr19	13207862	13207876	CTGCTGCTGCTGCTG	-	exonic	CACNA1A	.	nonframeshift deletion	CACNA1A:NM_001127222:exon47:c.6958_6972del:p.Q2321_Q2325del,	Epileptic encephalopathy, early infantile, 42, Autosomal dominant;Episodic ataxia, type 2, Autosomal dominant;Migraine, familial hemiplegic, 1, Autosomal dominant;Migraine, familial hemiplegic, 1, with progressive cerebellar ataxia, Autosomal dominant;Spinocerebellar ataxia 6, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5476	19269.49	27	chr19	13207858	.	CCTGCTGCTGCTGCTGCTG	CCTGCTGCTGCTG,CCTGCTGCTGCTGCTG,C,CCTGCTGCTGCTGCTGCTGCTG,CCTGCTGCTG,CCTG	19269.49	.	AC=17,5,4,1,1,1;AF=0.405,0.119,0.095,0.024,0.024,0.024;AN=42;BaseQRankSum=-2.880e-01;DP=833;ExcessHet=1.3217;FS=4.403;InbreedingCoeff=-0.0027;MLEAC=17,5,4,1,1,1;MLEAF=0.405,0.119,0.095,0.024,0.024,0.024;MQ=60.00;MQRankSum=0.00;QD=33.17;ReadPosRankSum=0.136;SOR=0.391	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,28,0,0,0,0,0:28:85:.:.:1241,85,0,1241,85,1241,1241,85,1241,1241,1241,85,1241,1241,1241,1241,85,1241,1241,1241,1241,1241,85,1241,1241,1241,1241,1241	2	3	6	0
chr19	13808947	13808947	A	G	exonic	ZSWIM4	.	nonsynonymous SNV	ZSWIM4:NM_001367834:exon4:c.A824G:p.Y275C	.	.	425	1079	18	0	0	18	0.00827206	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.999	D	0.923	D	0.000	U	1.000	D	2.595	M	0.99	T	-0.554	T	0.243	T	0.699	2.763	15.20	4.07	1.492	6.916	10.972	0.346	0.0855252126319	0.0005	0.000998403	0.0022	0.0003	0.0006	0	0	0.0012	0	0.0095	0.0014748	228	154602	rs149065965	0.0011	0.0011	0.0008	0.0014	0.0109	0.0011	0.0011	0.0088	0.0084	0.0001	0.0003	0.0046	0	1.907e-05	0.0109	0.0005	0.0015	0.0092	0.0007	0.0007	0.0005	0.0008	0.0077	0.0006	0.0005	0.0057	0.0050	9.623e-05	0	0.0003	0.0037	0	0	0.0034	0.0006	0.0009	0.0077	0.042	0.41637	D	0.086	0.41074	T	0.999	0.77913	D	0.923	0.65830	D	0.000186	0.48115	U	0.000000	0.928804	0.81001	D	2.615	0.76484	M	0.99	0.48142	T	-5.7	0.87380	D	0.736	0.73645	-0.5540	0.66634	T	0.243	0.61119	T	10	0.010751724	0.00238	T	0.085525	0.74552	D	0.346	0.66769	.	.	0.480123561213	0.47641	0.9555541239800174	0.95540	1.65155041061	0.89543	0.733240246773	0.71979	T	0.217443	0.57989	T	-0.253904	0.13625	T	-0.130527	0.60926	T	0.0874655497672056	0.10914	T	0.820118	0.47860	T	0.32502732	0.55061	0.303005	0.56331	0.32502732	0.55061	0.303005	0.56330	-4.887	0.35589	T	.	.	0.159	0.35183	B	.;.	.;.	3.886318	0.56514	23.7	0.99681960893055865	0.79307	0.95997	0.67068	D	AEFDBI	0.752354	0.69288	D	0.505389456042273	0.67409	5.077654	0.399347323838353	0.61523	4.353769	0.959736062043445	0.28445	0.706548	0.73137	0	0.708844	0.79440	0	0.724815	0.87919	0	0.491896	0.07777	0	.	.	4.07	4.07	0.46726	6.898000	0.75496	5.091000	0.47354	0.651000	0.53179	1.000000	0.71638	1.000000	0.68203	0.989000	0.64315	1.0:0.0:0.0:0.0	10.972	0.46660	958	0.09170	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	982.98	40	chr19	13808947	.	A	G	982.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.21;DP=805;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.43;ReadPosRankSum=1.11;SOR=0.732	GT:AD:DP:GQ:PL	0/1:50,36:86:99:997,0,1275	20	0	1	0
chr19	13931801	13931801	G	A	exonic	PODNL1	.	nonsynonymous SNV	PODNL1:NM_001370095:exon10:c.C1682T:p.P561L,	.	.	744	772	5	1	0	7	0.00451322	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00279553	0.0086	0.0046	0	0	.	0.0131	0	0	0.0007374	114	154602	rs564006987	0.0065	0.0049	0.0064	0.0066	0.0088	0.0063	0.0063	0.0072	0.0068	0.0017	0.0088	0.0062	0	0.0015	0.0075	0.0070	0.0060	0.0019	0.0054	0.0054	0.0055	0.0054	0.0094	0.0051	0.0050	0.0082	0.0077	0.0023	0	0.0094	0.0092	0	0.0005	0.0476	0.0074	0.0080	0.0025	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0041531324	0.00082	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.520648	0.16939	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.075	0.05711	B	.	.	-0.106765	0.03603	0.706	0.78456511662004169	0.12309	0.06749	0.12771	N	AEFDGBI	0.119533	0.23325	N	.	.	.	.	.	.	0.0834365898943498	0.15928	0.421363	0.06395	0	0.514364	0.08380	0	0.536957	0.11973	0	0.562822	0.20929	0	.	.	4.87	0.186	0.14386	-0.788000	0.04719	-0.435000	0.09196	-0.858000	0.02657	0.000000	0.06391	0.000000	0.08366	0.006000	0.07323	0.3994:0.0:0.6006:0.0	6.845	0.23165	934	0.15400	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	834.98	37	chr19	13931801	.	G	A	834.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.26;DP=779;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.46;ReadPosRankSum=-1.337e+00;SOR=0.607	GT:AD:DP:GQ:PL	0/1:37,30:67:99:849,0,859	20	0	1	0
chr19	15021899	15021899	G	C	exonic	CCDC105	.	nonsynonymous SNV	CCDC105:NM_173482:exon6:c.G1231C:p.E411Q,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	1.0	D	0.999	D	0.000	D	1.000	N	2.125	M	2.93	T	-1.122	T	0.069	T	0.349	2.185	13.26	2.72	0.807	4.364	9.118	0.105	0.00621132848818	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.368e-06	1.368e-06	0	2.751e-06	2.319e-05	2.3e-07	9e-08	3.85e-06	1.44e-06	0	0	0	0	0	0	0	0	2.319e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.008	0.58626	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.000065	0.52346	D	0.000000	0.999999	0.08975	N	2.625	0.76847	M	2.93	0.09822	T	-2.54	0.55025	D	0.765	0.76296	-1.1219	0.02215	T	0.069	0.28147	T	10	0.7687899	0.76914	D	0.006211	0.16288	T	0.105	0.29889	0.261	0.20473	0.63713380425	0.63415	0.6552378281062572	0.65459	1.18296360157	0.80066	0.50546592474	0.39589	T	0.046445	0.27425	T	-0.095895	0.37102	T	-0.375523	0.36245	T	0.854949235916138	0.50597	D	0.775622	0.40735	T	0.4125723	0.61594	0.3490407	0.60535	0.4125723	0.61594	0.3490407	0.60534	-4.384	0.29339	T	.	.	0.511	0.65069	A	.	.	3.756439	0.53871	23.4	0.99601888677156392	0.74278	0.62796	0.31890	D	AEFDBI	0.298657	0.40792	N	0.246768169254444	0.53480	3.516595	0.069732249366408	0.43037	2.613734	3.96445789839075E-4	0.06820	0.403107	0.06075	0	0.547309	0.14657	0	0.578056	0.29568	0	0.613276	0.41899	0	.	.	3.78	2.72	0.31179	4.338000	0.59099	.	.	0.676000	0.76740	0.998000	0.41325	1.000000	0.68203	0.115000	0.18958	0.0:0.2242:0.7758:0.0	9.118	0.35934	970	0.06235	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2695.98	45	chr19	15021899	.	G	C	2695.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.584;DP=959;ExcessHet=0.0000;FS=5.137;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=17.85;ReadPosRankSum=0.066;SOR=0.783	GT:AD:DP:GQ:PL	0/1:53,98:151:99:2710,0,1310	20	0	1	0
chr19	15650073	15650073	G	A	exonic	CYP4F3	.	nonsynonymous SNV	CYP4F3:NM_001369696:exon6:c.G808A:p.V270I	.	.	416	1099	7	0	0	7	0.0031746	.	.	704823	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.07	T	0.05	B	0.19	B	0.004	U	0.971	D	0.395	N	-0.34	T	-0.899	T	0.131	T	0.126	1.854	12.16	2.94	0.667	4.257	9.454	0.047	.	0.0065	0.00299521	0.0063	0.0008	0.0036	0	0.0074	0.0093	0.0121	0.0021	0.006216	961	154602	rs28371536	0.0083	0.0083	0.0083	0.0082	0.0095	0.0082	0.0081	0.0093	0.0093	0.0011	0.0044	0.0010	0	0.0117	0.0009	0.0095	0.0076	0.0023	0.0060	0.0060	0.0061	0.0060	0.0102	0.0057	0.0056	0.0096	0.0094	0.0013	0.0044	0.0027	0.0012	0	0.0093	0	0.0102	0.0061	0.0019	0.051	0.39334	T	0.135	0.34124	T	0.05	0.22331	B	0.19	0.36341	B	0.003680	0.34636	U	0.182612	0.971439	0.38870	D	1.68	0.43186	L	-0.34	0.68474	T	-0.88	0.23808	N	0.289	0.35938	-0.8995	0.48044	T	0.131	0.44208	T	10	0.011344999	0.00248	T	.	.	.	0.047	0.12962	.	.	0.490213675041	0.48656	0.13366900046223854	0.13290	0.0561972095578	0.06208	0.382042884827	0.22546	T	0.004483	0.03887	T	-0.463997	0.00928	T	-0.426952	0.30281	T	0.0277760677252744	0.01655	T	0.827017	0.49049	T	0.0976641	0.23025	0.116235085	0.28059	0.0976641	0.23025	0.116235085	0.28058	-8.481	0.64303	D	.	.	0.078	0.14108	B	.;.;.;.	.;.;.;.	2.154418	0.27447	17.46	0.99233812548089384	0.56310	0.72834	0.35637	D	AEFGBI	0.579001	0.57998	D	-0.435739552007726	0.24227	1.306619	-0.352826101920478	0.26421	1.459297	0.00535651072758603	0.10912	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.562822	0.20929	0	.	.	3.99	2.94	0.33188	4.112000	0.57585	.	.	0.618000	0.50648	1.000000	0.71638	0.000000	0.08366	0.223000	0.22544	0.1084:0.0:0.8916:0.0	9.454	0.37907	934	0.15400	.;.;.;.	CTC-429P9.1	Artery_Tibial	.	.	rs28371536	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	4184.98	34	chr19	15650073	.	G	A	4184.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.78;DP=1063;ExcessHet=0.0000;FS=7.114;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=55.13;MQRankSum=-2.897e+00;QD=12.27;ReadPosRankSum=-1.308e+00;SOR=0.590	GT:AD:DP:GQ:PL	0/1:175,166:341:99:4199,0,4106	20	0	1	0
chr19	16750057	16750057	C	T	exonic	NWD1	.	nonsynonymous SNV	NWD1:NM_001347994:exon5:c.C797T:p.A266V	.	.	425	1082	15	0	0	15	0.00688389	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4	T	0.189	B	0.113	B	0.396	N	1.000	N	-0.11	N	-1.41	T	-0.894	T	0.232	T	0.091	-0.797	0.685	0.037	-0.247	-0.055	5.024	0.140	.	0.0002	0.00279553	0.0019	0	0.0007	0	0	0.0006	0.0022	0.0110	0.0016623	257	154602	rs200735264	0.0010	0.0010	0.0007	0.0013	0.0104	0.0009	0.0009	0.0099	0.0096	8.961e-05	0.0006	0.0041	0	0	0.0036	0.0003	0.0013	0.0104	0.0009	0.0009	0.0005	0.0012	0.0104	0.0007	0.0007	0.0081	0.0073	4.81e-05	0	0.0027	0.0046	0	0	0	0.0003	0.0014	0.0104	0.289	0.16793	T	0.062	0.46406	T	0.157	0.28234	B	0.069	0.28749	B	0.396274	0.04507	N	1.428110	1	0.08975	N	0	0.06538	N	-1.41	0.80560	T	-0.29	0.11728	N	0.047	0.03956	-0.8941	0.48567	T	0.232	0.59782	T	10	0.005074203	0.00110	T	.	.	.	0.140	0.37593	.	.	0.0716867268079	0.06686	0.18970174225344194	0.18888	0.142973379505	0.16129	0.207778096199	0.00721	T	0.007067	0.06489	T	-0.516934	0.00458	T	-0.507498	0.21572	T	0.0128055767576513	0.00218	T	0.432757	0.11777	T	0.018611051	0.00383	0.031628143	0.01780	0.018611051	0.00383	0.031628143	0.01780	-4.872	0.35419	T	.	.	0.073	0.04681	B	.;.;.;.	.;.;.;.	-0.197591	0.03103	0.491	0.67345335733443468	0.08327	0.01930	0.05886	N	AEFDBI	0.028339	0.02477	N	-1.10982298745324	0.06468	0.297813	-1.12986282513968	0.07135	0.3459121	1.32552750386162E-5	0.02871	0.553676	0.25195	0	0.588015	0.36545	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	4.64	0.037	0.13512	0.333000	0.19512	-0.949000	0.06820	-0.983000	0.01888	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.5571:0.1715:0.2713:0.0	5.024	0.13716	906	0.23090	.;NACHT nucleoside triphosphatase;.;NACHT nucleoside triphosphatase	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.07143	6077.68	41	chr19	16750057	.	C	T	6077.68	.	AC=3;AF=0.071;AN=42;BaseQRankSum=-2.724e+00;DP=1249;ExcessHet=0.3300;FS=0.532;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=12.35;ReadPosRankSum=-4.080e-01;SOR=0.755	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:84,92:176:99:.:.:2304,0,2212	18	0	3	0
chr19	17211769	17211769	C	T	exonic	MYO9B	.	nonsynonymous SNV	MYO9B:NM_001130065:exon39:c.C6053T:p.S2018L	.	.	367	1108	46	1	0	48	0.0212014	.	.	704845	MYO9B-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.13	T	0.271	B	0.034	B	0.412	N	1.000	N	0.69	N	-1.96	D	-0.771	T	0.282	T	0.041	1.778	11.90	0.090	-0.107	2.935	5.497	0.190	.	0.0050	0.00319489	0.0060	0.0005	0.0026	0	0.0085	0.0070	0.0070	0.0097	0.0055627	860	154602	rs199695802	0.0056	0.0056	0.0054	0.0059	0.0210	0.0055	0.0055	0.0180	0.0168	0.0008	0.0030	0.0151	2.519e-05	0.0091	0.0210	0.0051	0.0073	0.0104	0.0044	0.0044	0.0042	0.0047	0.0104	0.0042	0.0041	0.0081	0.0073	0.0011	0	0.0043	0.0141	0	0.0082	0.0102	0.0053	0.0057	0.0104	0.076	0.34269	T	0.025	0.56192	D	.	.	.	.	.	.	0.412285	0.04598	N	1.514930	1	0.08975	N	1.78	0.46185	L	-1.96	0.85091	D	-2.12	0.48184	N	0.183	0.22998	-0.7710	0.56803	T	0.282	0.65399	T	10	0.0070744455	0.00161	T	.	.	.	0.190	0.46781	.	.	0.479185464739	0.47547	0.39954179086188857	0.39869	0.291571434391	0.31565	0.432612478733	0.29566	T	0.022428	0.18153	T	-0.478053	0.00759	T	-0.451505	0.27530	T	0.0266004429926373	0.01488	T	0.727427	0.39899	T	.	.	.	.	.	.	.	.	-3.639	0.18422	T	.	.	0.062	0.08224	B	.;.;.;.;.;.	.;.;.;.;.;.	1.720961	0.21908	15.40	0.98264130253596449	0.39694	0.46924	0.27868	N	AEFBI	0.280645	0.39441	N	-0.973295880863492	0.09177	0.433247	-0.968848972364462	0.10489	0.5286096	0.0025240548006917	0.09503	0.706548	0.73137	0	0.702456	0.74545	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	4.93	0.090	0.13772	2.996000	0.49137	-0.581000	0.08376	-0.781000	0.03322	0.027000	0.20232	0.000000	0.08366	0.856000	0.40543	0.0:0.6136:0.1429:0.2435	5.497	0.16099	917	0.20147	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.07143	2336.68	33	chr19	17211769	.	C	T	2336.68	.	AC=3;AF=0.071;AN=42;BaseQRankSum=0.790;DP=870;ExcessHet=0.3300;FS=1.673;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=10.67;ReadPosRankSum=-1.148e+00;SOR=0.826	GT:AD:DP:GQ:PL	0/1:40,46:86:99:1046,0,817	18	0	3	0
chr19	17286692	17286692	T	0	exonic	ANKLE1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7619	2556.62	16	chr19	17286692	.	T	*,G	2556.62	.	AC=29,9;AF=0.690,0.214;AN=42;BaseQRankSum=-3.190e-01;DP=1109;ExcessHet=0.6776;FS=2.075;InbreedingCoeff=-0.1052;MLEAC=29,9;MLEAF=0.690,0.214;MQ=59.98;MQRankSum=0.00;QD=3.57;ReadPosRankSum=1.19;SOR=0.451	GT:AD:DP:GQ:PGT:PID:PL:PS	2/2:0,2,27:29:46:.:.:1416,941,958,107,46,0	0	10	3	0
chr19	17328373	17328373	C	T	exonic	ANO8	.	nonsynonymous SNV	ANO8:NM_020959:exon13:c.G2015A:p.R672Q,	.	.	397	1118	7	0	0	7	0.00312082	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.65	T	0.076	B	0.016	B	0.163	N	1.000	N	2.125	M	0.13	T	-0.986	T	0.140	T	0.16	2.060	12.85	1.21	0.054	.	4.963	0.038	.	0.0023	0.00139776	0.0059	0.0004	0.0012	0	0.0070	0.0103	0	0.0016	0.0022962	355	154602	rs200489783	0.0028	0.0028	0.0028	0.0028	0.0026	0.0027	0.0027	0.0025	0.0024	0.0003	0.0006	0.0229	0	0.0042	0.0023	0.0026	0.0037	0.0014	0.0026	0.0026	0.0026	0.0025	0.0033	0.0024	0.0023	0.0030	0.0028	0.0005	0	0.0015	0.0210	0	0.0038	0	0.0033	0.0014	0.0019	0.397	0.10588	T	0.301	0.20293	T	0.076	0.24253	B	0.016	0.17743	B	0.163433	0.17591	N	0.549745	1	0.08975	N	1.825	0.47900	L	0.13	0.60973	T	-0.5	0.15782	N	0.041	0.01421	-0.9855	0.33711	T	0.140	0.45979	T	10	0.0027075708	0.00042	T	.	.	.	0.038	0.09825	.	.	0.0934897674506	0.08844	0.3793333761704312	0.37848	.	.	0.456459462643	0.32826	T	0.083012	0.36958	T	-0.503483	0.00547	T	-0.498101	0.22544	T	0.0182035542461462	0.00541	T	0.609739	0.23084	T	0.013590228	0.00064	0.018941512	0.00071	0.013590228	0.00063	0.018941512	0.00071	-4.12	0.25584	T	.	.	0.068	0.02829	B	.	.	0.830534	0.12021	8.576	0.99417952410221744	0.63597	0.11717	0.16816	N	AEFDBHCI	0.058212	0.10907	N	-0.852139389896749	0.11997	0.5821769	-0.88243840779874	0.12509	0.6439254	0.999998976569294	0.74766	0.733237	0.96898	0	0.609123	0.50646	0	0.600757	0.32118	0	0.56751	0.32155	0	.	.	4.87	1.21	0.20240	-0.950000	0.03999	-0.098000	0.11976	-0.319000	0.05888	0.000000	0.06391	0.000000	0.08366	0.217000	0.22379	0.0:0.4453:0.3502:0.2045	4.963	0.13423	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	0.02381	580.98	41	chr19	17328373	.	C	T	580.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.88;DP=782;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.86;ReadPosRankSum=0.161;SOR=0.830	GT:AD:DP:GQ:PL	0/1:27,22:49:99:595,0,689	20	0	1	0
chr19	18177230	18177230	G	A	exonic	IFI30	.	nonsynonymous SNV	IFI30:NM_006332:exon5:c.G574A:p.A192T,	.	.	418	1103	1	0	0	1	0.000453104	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.996	D	0.627	P	.	.	1.000	D	3.39	M	1.33	T	-0.346	T	0.230	T	0.801	4.958	28.9	5.1	2.383	8.347	17.529	0.449	0.0937293976602	.	0.000199681	4.673e-05	0	0	0	0	4.364e-05	0	0.0001	2.59e-05	4	154602	rs541907116	1.392e-05	1.847e-05	1.381e-05	1.404e-05	0.0003	9.09e-06	7.39e-06	6.121e-05	2.532e-05	3.037e-05	0	0	0	0	0.0003	9.093e-06	1.681e-05	7.289e-05	1.313e-05	1.312e-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	0.002	0.72154	D	0.004	0.74150	D	0.996	0.68779	D	0.627	0.51631	P	.	.	.	.	1	0.81001	D	3.695	0.94570	H	1.33	0.35031	T	-3.7	0.70553	D	0.851	0.84713	-0.3463	0.73661	T	0.230	0.59534	T	9	0.9240848	0.91758	D	0.093729	0.76125	D	0.449	0.75004	0.753	0.88319	0.722628367933	0.72017	0.7130798634893879	0.71249	0.136873454913	0.15434	0.555047333241	0.46569	T	0.704944	0.91536	D	0.159842	0.70186	D	-0.00817468	0.69804	D	0.967172801494598	0.67822	D	0.913609	0.69252	D	0.2747706	0.50542	0.31555042	0.57540	0.2747706	0.50542	0.31555042	0.57540	-10.003	0.73930	D	.	.	0.859	0.80277	P	.	.	4.482562	0.69953	25.4	0.99838486178371166	0.91886	0.98216	0.80621	D	AEFDBCI	0.937614	0.93562	D	0.571257788948046	0.71384	5.64295	0.436228841306498	0.63836	4.625632	0.999999999998687	0.74766	0.645754	0.44609	0	0.696144	0.67643	0	0.693144	0.63139	0	0.604944	0.38103	0	.	.	5.1	5.1	0.68917	8.421000	0.90129	11.666000	0.94044	0.575000	0.29119	1.000000	0.71638	1.000000	0.68203	0.023000	0.12082	0.0:0.0:1.0:0.0	17.529	0.87704	958	0.09170	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1192.98	33	chr19	18177230	.	G	A	1192.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.36;DP=795;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.43;ReadPosRankSum=-7.300e-02;SOR=0.625	GT:AD:DP:GQ:PL	0/1:51,45:96:99:1207,0,1189	20	0	1	0
chr19	19635648	19635648	G	T	exonic	GMIP	.	nonsynonymous SNV	GMIP:NM_016573:exon14:c.C1401A:p.D467E,	.	.	406	1080	35	1	0	37	0.0168411	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.91	T	0.998	D	0.899	P	0.001	D	1.000	D	0.66	N	2.06	T	-1.017	T	0.045	T	0.139	0.359	5.949	0.513	0.090	0.130	7.225	0.102	.	0.0010	0.00519169	0.0048	9.61e-05	0.0009	0.0002	0.0012	0.0018	0.0077	0.0261	0.0041849	647	154602	rs141198269	0.0026	0.0026	0.0018	0.0033	0.0247	0.0025	0.0025	0.0238	0.0235	2.987e-05	0.0010	0.0076	5.038e-05	0.0009	0.0080	0.0010	0.0030	0.0247	0.0017	0.0017	0.0013	0.0021	0.0222	0.0015	0.0014	0.0188	0.0175	0.0002	0	0.0012	0.0072	0	0.0009	0.0034	0.0012	0.0014	0.0222	0.75	0.03587	T	0.0	0.92824	D	0.998	0.73220	D	0.899	0.63802	P	0.000916	0.41128	D	0.000000	0.964895	0.81001	D	1.475	0.37068	L	2.06	0.20523	T	-0.79	0.21860	N	0.067	0.03956	-1.0170	0.24690	T	0.045	0.19356	T	10	0.006407529	0.00145	T	.	.	.	0.102	0.29158	0.187	0.09646	0.404733080969	0.40085	0.3468900445969443	0.34603	0.873673126028	0.69486	0.513045012951	0.40648	T	0.029571	0.21161	T	-0.584628	0.00181	T	-0.59363	0.13354	T	0.0327127017805036	0.02424	T	0.534247	0.17838	T	0.06920902	0.15142	0.03692319	0.03239	0.06920902	0.15142	0.03692319	0.03238	-1.025	0.01027	T	.	.	0.133	0.28721	B	.	.	2.211830	0.28218	17.72	0.98102960630547464	0.38286	0.44499	0.27332	N	AEFDBCI	0.058329	0.10935	N	-0.124031639927003	0.36347	2.099781	-0.153208107527142	0.33286	1.902394	0.998886779435873	0.37891	0.722319	0.85440	0	0.698795	0.70079	0	0.723109	0.80598	0	0.635551	0.53088	0	.	.	4.01	0.513	0.16200	0.252000	0.18046	.	.	0.672000	0.70159	0.997000	0.40164	0.999000	0.35428	0.998000	0.85391	0.3952:0.0:0.6048:0.0	7.225	0.25183	437	0.80299	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1318.98	35	chr19	19635648	.	G	T	1318.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.40;DP=839;ExcessHet=0.0000;FS=1.734;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.66;ReadPosRankSum=-1.243e+00;SOR=0.986	GT:AD:DP:GQ:PL	0/1:45,45:90:99:1333,0,1097	20	0	1	0
chr19	20624371	20624371	G	0	exonic	ZNF626	.	.	.	.	.	798	89	186	378	71	1013	0.841071	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.8929	18756.49	70	chr19	20624371	.	G	GA,*	18756.49	.	AC=11,14;AF=0.393,0.500;AN=28;BaseQRankSum=0.690;DP=1784;ExcessHet=0.5115;FS=0.701;InbreedingCoeff=0.3000;MLEAC=15,19;MLEAF=0.536,0.679;MQ=58.42;MQRankSum=-3.529e+00;QD=16.03;ReadPosRankSum=1.59;SOR=0.593	GT:AD:DP:GQ:PGT:PID:PL:PS	2|2:0,0,77:77:99:1|1:20624327_GGCTTTGCCACATTCTTCACATTTGTAGAATTTCTCTCCAGTATGATTCTCTCATGTGTAGTAAGGATTGAGGACTGGTTGAAGGCTTTGCCACATTCTTCACATTTGTAGGGTCTCTCTCCAGTATGAATTTTCTTATGTGTAGTAAGGTTAGAGGAGCACTTAAAA_G:1690,1690,1690,164,164,0:20624327	0	4	3	7
chr19	20624379	20624379	C	0	exonic	ZNF626	.	.	.	.	.	805	84	185	376	72	1009	0.847964	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.8929	18081.55	70	chr19	20624379	.	C	T,*	18081.55	.	AC=11,14;AF=0.393,0.500;AN=28;BaseQRankSum=-4.660e-01;DP=1782;ExcessHet=0.5115;FS=0.686;InbreedingCoeff=0.3000;MLEAC=15,19;MLEAF=0.536,0.679;MQ=58.41;MQRankSum=-3.245e+00;QD=15.23;ReadPosRankSum=-4.350e-01;SOR=0.597	GT:AD:DP:GQ:PGT:PID:PL:PS	2|2:0,0,77:77:99:1|1:20624327_GGCTTTGCCACATTCTTCACATTTGTAGAATTTCTCTCCAGTATGATTCTCTCATGTGTAGTAAGGATTGAGGACTGGTTGAAGGCTTTGCCACATTCTTCACATTTGTAGGGTCTCTCTCCAGTATGAATTTTCTTATGTGTAGTAAGGTTAGAGGAGCACTTAAAA_G:1690,1690,1690,164,164,0:20624327	0	4	3	7
chr19	21383191	21383191	G	A	exonic	ZNF738	.	nonsynonymous SNV	ZNF738:NM_001355237:exon5:c.G645A:p.M215I,	.	.	525	981	16	0	0	16	0.00808898	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs910428921	1.384e-06	0.0003	0	2.783e-06	2.276e-05	2.3e-07	9e-08	.	.	0	2.276e-05	0	0	0	0	9.092e-07	0	0	0	0.0038	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.125	1507.17	46	chr19	21383191	.	G	A	1507.17	.	AC=5;AF=0.125;AN=40;BaseQRankSum=-1.034e+00;DP=1693;ExcessHet=1.1607;FS=5.964;InbreedingCoeff=-0.1507;MLEAC=5;MLEAF=0.125;MQ=59.03;MQRankSum=-1.079e+01;QD=1.91;ReadPosRankSum=-1.253e+00;SOR=1.349	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:179,29:208:99:0|1:21383168_A_G:679,0,7429:21383168	15	0	5	1
chr19	21383196	21383196	T	C	exonic	ZNF738	.	nonsynonymous SNV	ZNF738:NM_001355237:exon5:c.T650C:p.L217S,	.	.	531	981	10	0	0	10	0.00507099	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1380787073	0	0.0001	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	6.719e-06	0.0012	1.31e-05	0	1.497e-05	0	0	.	.	0	0	0	0	0	0	0	1.497e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.125	1201.17	46	chr19	21383196	.	T	C	1201.17	.	AC=5;AF=0.125;AN=40;BaseQRankSum=1.03;DP=1683;ExcessHet=1.1607;FS=6.327;InbreedingCoeff=-0.1507;MLEAC=5;MLEAF=0.125;MQ=59.06;MQRankSum=-1.086e+01;QD=1.53;ReadPosRankSum=-1.685e+00;SOR=1.443	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:178,28:206:99:0|1:21383168_A_G:640,0,7390:21383168	15	0	5	1
chr19	21383203	21383203	-	ACTC	exonic	ZNF738	.	frameshift insertion	ZNF738:NM_001355237:exon5:c.657_658insACTC:p.G220Tfs*5,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1434000702	0	5.341e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	6.578e-06	0.0004	1.286e-05	0	1.472e-05	0	0	.	.	0	0	0	0	0	0	0	1.472e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09524	651.89	46	chr19	21383203	.	A	AACTC	651.89	.	AC=4;AF=0.095;AN=42;BaseQRankSum=0.261;DP=1551;ExcessHet=0.6776;FS=5.243;InbreedingCoeff=-0.1054;MLEAC=4;MLEAF=0.095;MQ=59.17;MQRankSum=-1.177e+01;QD=1.02;ReadPosRankSum=-1.741e+00;SOR=1.440	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:170,23:193:99:0|1:21383168_A_G:454,0,7069:21383168	17	0	4	0
chr19	21383206	21383209	TCAA	-	exonic	ZNF738	.	frameshift deletion	ZNF738:NM_001355237:exon5:c.660_663del:p.Q221Ifs*3,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1310884774	0	4.382e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	6.714e-06	0.0004	1.31e-05	0	1.494e-05	0	0	.	.	0	0	0	0	0	0	0	1.494e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	617.28	46	chr19	21383205	.	GTCAA	G	617.28	.	AC=4;AF=0.100;AN=40;BaseQRankSum=4.39;DP=1537;ExcessHet=0.6776;FS=5.203;InbreedingCoeff=-0.1204;MLEAC=4;MLEAF=0.100;MQ=59.20;MQRankSum=-1.168e+01;QD=0.97;ReadPosRankSum=-1.938e+00;SOR=1.383	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:167,23:190:99:0|1:21383168_A_G:463,0,6943:21383168	16	0	4	1
chr19	32999679	32999679	G	A	exonic	RHPN2	.	stopgain	RHPN2:NM_033103:exon10:c.C1132T:p.Q378X,	.	.	392	647	479	4	0	487	0.273442	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3	T	.	.	.	.	0.000	D	1.000	A	.	.	.	.	.	.	.	.	.	8.340	40	4.72	2.174	8.944	17.685	.	.	.	.	0.2531	0.3917	0.1262	0.2590	0.2378	0.2220	0.2567	0.3809	0.0003842	10	26028	rs78615454	1.45e-05	0.0007	1.512e-05	1.387e-05	0.0011	9.32e-06	7.91e-06	0.0005	0.0003	0	2.247e-05	0	0	0	0.0011	9.078e-07	0	0.0002	0	1.97e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	0.000000	0.84330	D	0.000000	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.295	0.33360	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.195965	0.73516	D	0.652534	0.98317	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive	High	9.996723	0.99494	44	0.99829210797084544	0.91112	0.99069	0.90771	D	AEFDBI	0.292062	0.40303	N	1.04336661485944	0.96932	15.344	0.880771434466692	0.94678	12.953	0.999999999954891	0.74766	0.67177	0.52595	0	0.708844	0.79440	0	0.702456	0.68683	0	0.567892	0.33627	0	.	.	4.72	4.72	0.59248	9.105000	0.93598	11.713000	0.94685	0.604000	0.46097	1.000000	0.71638	1.000000	0.68203	0.930000	0.46718	0.0:0.0:1.0:0.0	17.685	0.88159	819	0.41190	BRO1 domain|BRO1 domain|BRO1 domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2143	2050.0	174	chr19	32999679	.	G	A	2050.0	.	AC=9;AF=0.214;AN=42;BaseQRankSum=-2.491e+00;DP=3802;ExcessHet=4.7172;FS=2.492;InbreedingCoeff=-0.2727;MLEAC=9;MLEAF=0.214;MQ=54.90;MQRankSum=-6.014e+00;QD=1.13;ReadPosRankSum=2.20;SOR=0.676	GT:AD:DP:GQ:PL	0/1:153,22:175:28:28,0,3936	12	0	9	0
chr19	37565764	37565764	G	A	exonic	ZNF571	.	nonsynonymous SNV	ZNF571:NM_001321272:exon4:c.C664T:p.P222S	.	.	410	1110	2	0	0	2	0.00090009	.	.	3417046	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0	D	0.999	D	0.985	D	.	.	1.000	N	2.28	M	2.32	T	-0.972	T	0.105	T	0.203	3.589	18.28	2.71	0.760	6.761	10.015	0.272	0.0178259757425	0.0002	.	0.0002	0	8.702e-05	0	0	0.0002	0	0.0003	0.0001617	25	154602	rs140269526	0.0002	0.0002	0.0002	0.0002	0.0003	0.0001	0.0001	0.0002	0.0002	0	0.0002	3.827e-05	0	0	0.0002	0.0002	4.969e-05	0.0003	0.0002	0.0002	0.0001	0.0002	0.0006	0.0001	8.736e-05	0.0002	0.0001	4.829e-05	0	0.0001	0	0	9.5e-05	0	0.0002	0	0.0006	0.003	0.68238	D	0.012	0.63918	D	0.999	0.77913	D	0.985	0.76457	D	.	.	.	.	1	0.81001	D	1.26	0.31868	L	2.32	0.16640	T	-6.8	0.92903	D	0.165	0.22998	-0.9715	0.36883	T	0.105	0.38415	T	9	0.22705871	0.39577	T	0.017826	0.39680	T	0.272	0.58758	.	.	0.350964488264	0.34705	0.0340020336512854	0.03348	0.213902671836	0.23913	0.379356086254	0.22165	T	0.044079	0.26705	T	-0.424963	0.01591	T	-0.54223	0.18077	T	0.364519462227136	0.27585	T	0.39666	0.09990	T	0.44973764	0.64024	0.47836682	0.69783	0.44973764	0.64025	0.47836682	0.69783	-6.021	0.46455	T	.	.	0.670	0.71722	P	.;.;.;.	.;.;.;.	3.752891	0.53807	23.4	0.99882580132926368	0.95813	0.00459	0.02214	N	AEFGBHCI	0.750199	0.69139	D	0.399737121872903	0.61409	4.341507	0.263851037517124	0.53442	3.513068	0.882304057536865	0.25650	0.553676	0.25195	0	0.588015	0.36545	0	0.602189	0.34648	0	0.567892	0.33627	0	.	.	3.76	2.71	0.31092	3.490000	0.53007	.	.	0.595000	0.32841	0.996000	0.39380	0.000000	0.08366	0.835000	0.39381	0.1047:0.0:0.8953:0.0	10.015	0.41180	658	0.62094	Zinc finger C2H2-type;Zinc finger C2H2-type;Zinc finger C2H2-type;Zinc finger C2H2-type	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1439.98	33	chr19	37565764	.	G	A	1439.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.85;DP=1077;ExcessHet=0.0000;FS=3.916;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.82;ReadPosRankSum=0.451;SOR=0.405	GT:AD:DP:GQ:PL	0/1:41,50:91:99:1454,0,1120	20	0	1	0
chr19	37887095	37887095	C	T	exonic	WDR87	.	nonsynonymous SNV	WDR87:NM_001291088:exon6:c.G6576A:p.M2192I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.23	T	0.001	B	0.001	B	.	.	1.000	N	0	N	1.1	T	-1.038	T	0.044	T	0.146	0.505	6.738	0.383	0.403	-0.759	2.678	0.009	0.0204136497208	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.091	0.31834	T	0.276	0.22016	T	0.001	0.07471	B	0.001	0.04355	B	.	.	.	.	1	0.08975	N	.	.	.	1.1	0.39050	T	-0.48	0.15379	N	0.108	0.10483	-1.0375	0.18078	T	0.044	0.18948	T	9	0.05899042	0.07022	T	0.020414	0.42999	T	0.009	0.00846	0.39	0.41279	0.0920862733494	0.08535	0.029034270678991596	0.02852	.	.	0.393157303333	0.24114	T	.	.	.	-0.264741	0.12349	T	-0.618058	0.11338	T	0.0694930752056396	0.08580	T	0.381062	0.09207	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.444	0.64238	A	.;.	.;.	0.319938	0.06943	3.492	0.38647600985457964	0.02619	0.03920	0.09307	N	AEFGBI	0.049399	0.08530	N	-1.08419287681575	0.06934	0.320632	-1.08622430549721	0.07971	0.3899139	4.11720576999195E-4	0.06899	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	4.6	0.383	0.15462	0.602000	0.23833	.	.	0.589000	0.31548	0.070000	0.22072	0.000000	0.08366	0.013000	0.09966	0.3759:0.3632:0.0:0.2609	2.678	0.04771	646	0.63441	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.5	6132.23	64	chr19	37887095	.	C	T	6132.23	.	AC=15;AF=0.500;AN=30;BaseQRankSum=-4.055e+00;DP=2145;ExcessHet=17.4423;FS=296.629;InbreedingCoeff=-0.7500;MLEAC=18;MLEAF=0.600;MQ=60.00;MQRankSum=0.00;QD=3.74;ReadPosRankSum=1.29;SOR=12.164	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:67,41:108:99:.:.:752,0,1936	0	0	15	6
chr19	37887096	37887096	A	G	exonic	WDR87	.	nonsynonymous SNV	WDR87:NM_001291088:exon6:c.T6575C:p.M2192T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.31	T	0.213	B	0.033	B	.	.	1.000	N	0	N	1.06	T	-1.038	T	0.045	T	0.239	-0.012	3.951	2.35	0.269	1.921	5.276	0.034	0.0229314344301	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.173e-07	2.259e-05	1.416e-06	0	9.296e-07	0	0	.	.	0	0	0	0	0	0	9.296e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.012	0.54683	D	0.639	0.06992	T	0.213	0.30041	B	0.033	0.22329	B	.	.	.	.	1	0.08975	N	.	.	.	1.06	0.39781	T	-1.37	0.33998	N	0.241	0.27197	-1.0379	0.17954	T	0.045	0.19437	T	9	0.07963219	0.12831	T	0.022931	0.45860	T	0.034	0.08419	0.354	0.35408	0.132336055621	0.12781	0.09333230472886582	0.09265	.	.	0.44281449914	0.30962	T	.	.	.	-0.187347	0.22650	T	-0.506887	0.21634	T	0.185715109109879	0.19588	T	0.310469	0.06031	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.507	0.66846	A	.;.	.;.	1.675669	0.21359	15.17	0.2656475844503623	0.01278	0.05870	0.11817	N	AEFGBI	0.068161	0.13433	N	-0.937720259489842	0.09970	0.4742779	-0.936529822273914	0.11236	0.5712116	0.00186976402927546	0.08957	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	4.6	2.35	0.28166	3.208000	0.50816	.	.	0.743000	0.86499	0.302000	0.25342	0.056000	0.21938	0.017000	0.10941	0.637:0.1851:0.0:0.1778	5.276	0.14959	646	0.63441	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4688	5559.48	64	chr19	37887096	.	A	G	5559.48	.	AC=15;AF=0.469;AN=32;BaseQRankSum=-3.174e+00;DP=2173;ExcessHet=17.4423;FS=266.005;InbreedingCoeff=-0.7148;MLEAC=18;MLEAF=0.563;MQ=60.00;MQRankSum=0.00;QD=3.41;ReadPosRankSum=1.27;SOR=11.998	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:76,32:108:99:.:.:311,0,2459	1	0	15	5
chr19	39872627	39872627	C	A	exonic	FCGBP	.	nonsynonymous SNV	FCGBP:NM_003890:exon25:c.G11200T:p.A3734S,	.	.	430	1091	1	0	0	1	0.000458085	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.49	T	0.581	P	0.432	B	0.063	U	1.000	N	0.755	N	0.39	T	-0.955	T	0.099	T	0.079	2.037	12.77	-2.26	-0.476	-0.979	8.861	0.058	0.00611710567308	.	.	4.02e-05	0	0	0	0	1.777e-05	0	0.0002	2.59e-05	4	154602	rs777554353	1.327e-05	1.163e-05	6.565e-06	2.012e-05	0.0001	7.86e-06	6.36e-06	8.329e-05	6.497e-05	0	0	0	0	0	0	2.109e-06	4.597e-05	0.0001	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1780.98	35	chr19	39872627	.	C	A	1780.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.101e+00;DP=1025;ExcessHet=0.0000;FS=1.500;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.35;ReadPosRankSum=0.343;SOR=0.753	GT:AD:DP:GQ:PL	0/1:50,66:116:99:1795,0,1384	20	0	1	0
chr19	39886548	39886548	G	A	exonic	FCGBP	.	nonsynonymous SNV	FCGBP:NM_003890:exon17:c.C7631T:p.A2544V,	.	.	433	1018	71	0	0	71	0.0336972	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.22	T	0.078	B	0.043	B	.	.	1.000	N	1.75	L	0.18	T	-0.973	T	0.134	T	0.111	3.592	18.29	-7.43	-1.255	-2.399	9.409	0.073	0.00515845595298	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1488096998	0.0035	0.0079	0.0032	0.0039	0.0116	0.0034	0.0034	0.0110	0.0107	0.0003	0.0011	0.0034	0	0.0012	0.0057	0.0032	0.0032	0.0116	0.0017	0.0049	0.0017	0.0017	0.0114	0.0016	0.0015	0.0089	0.0081	0.0003	0.0033	0.0011	0.0018	0	0.0013	0	0.0023	0.0014	0.0114	.	.	.	0.07	0.43721	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	.	.	.	.	.	-0.9734	0.36474	T	0.134	0.44759	T	9	0.010130703	0.00227	T	0.005158	0.13125	T	.	.	.	.	0.101711395817	0.09552	.	.	.	.	0.418726503849	0.27662	T	0.029995	0.21364	T	-0.267825	0.11999	T	-0.622489	0.10992	T	0.138795583218467	0.16171	T	0.763424	0.38984	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.255	0.48938	B	.	.	0.425453	0.07959	4.671	0.9942817816041134	0.64130	0.02634	0.07228	N	AEFBI	0.091879	0.18605	N	-1.21281395397476	0.04812	0.2180241	-1.37284189553889	0.03544	0.16553	0.0100883603552678	0.11964	0.615465	0.37627	0	0.588015	0.36545	0	0.658983	0.55881	0	0.620846	0.47308	0	.	.	3.71	-7.43	0.01238	-2.249000	0.01270	.	.	0.345000	0.19837	0.000000	0.06391	0.000000	0.08366	0.174000	0.21107	0.0:0.1829:0.2137:0.6034	9.409	0.37643	707	0.57054	von Willebrand factor, type D domain|von Willebrand factor, type D domain|von Willebrand factor, type D domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	393.98	46	chr19	39886548	.	G	A	393.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.370e+00;DP=1273;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=31.07;MQRankSum=1.41;QD=3.65;ReadPosRankSum=1.39;SOR=0.295	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:91,17:108:99:0|1:39886548_G_A:408,0,3650:39886548	20	0	1	0
chr19	39889859	39889859	A	C	exonic	FCGBP	.	nonsynonymous SNV	FCGBP:NM_003890:exon16:c.T7213G:p.F2405V,	.	.	433	1088	1	0	0	1	0.000459348	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.56	T	0.996	D	0.988	D	.	.	0.991	N	2.59	M	3.4	T	-1.040	T	0.050	T	0.407	1.303	10.27	1.89	0.325	3.441	8.196	0.100	0.00454143085334	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1385561429	1.235e-05	1.094e-05	6.529e-06	1.828e-05	0.0001	7.42e-06	5.88e-06	7.374e-05	5.664e-05	0	0	0	0	0	0	2.098e-06	4.546e-05	0.0001	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.018	0.59732	D	.	.	.	.	.	.	.	.	.	.	0.990948	0.24103	N	.	.	.	.	.	.	.	.	.	.	.	-1.0399	0.17343	T	0.050	0.21104	T	9	0.30679417	0.48187	T	0.004541	0.11189	T	.	.	.	.	0.259272394797	0.25527	.	.	.	.	0.81114423275	0.83668	D	0.094657	0.39461	T	-0.00289087	0.51255	T	-0.241929	0.50610	T	0.362149867969981	0.27493	T	0.840716	0.51609	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.721	0.73842	P	.	.	4.186795	0.63073	24.5	0.91440257548239812	0.20709	0.91825	0.54344	D	AEFGI	0.469210	0.51568	N	-0.0815378828200291	0.38202	2.233892	-0.306027821002465	0.27905	1.551731	3.24586523694362E-4	0.06540	0.553676	0.25195	0	0.588015	0.36545	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	2.98	1.89	0.24700	5.953000	0.70008	.	.	0.384000	0.20435	1.000000	0.71638	1.000000	0.68203	0.045000	0.14751	0.7965:0.2035:0.0:0.0	8.196	0.30558	711	0.56613	TILa domain|VWFC domain|VWFC domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1045.98	47	chr19	39889859	.	A	C	1045.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.629e+00;DP=1091;ExcessHet=0.0000;FS=0.784;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=43.92;MQRankSum=-1.800e-02;QD=3.24;ReadPosRankSum=0.664;SOR=0.817	GT:AD:DP:GQ:PL	0/1:267,56:323:99:1060,0,9133	20	0	1	0
chr19	40570643	40570643	C	A	exonic	SPTBN4	.	nonsynonymous SNV	SPTBN4:NM_020971:exon33:c.C7234A:p.P2412T,	.	.	423	1098	1	0	0	1	0.000455166	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06	T	0.948	P	0.487	P	0.001	U	1.000	D	0.805	L	1.62	T	-1.095	T	0.066	T	0.338	1.774	11.89	4.47	2.322	7.108	14.164	0.129	0.0454489835029	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.163e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.416	0.09958	T	0.052	0.47581	T	0.023	0.18885	B	0.029	0.21540	B	0.000831	0.41547	U	0.095731	0.859878	0.28899	N	2.05	0.56469	M	1.62	0.28189	T	-1.88	0.43906	N	0.313	0.42931	-1.0947	0.04795	T	0.066	0.27364	T	10	0.2157076	0.38131	T	0.045449	0.61984	D	0.129	0.35316	0.324	0.30549	0.520161069619	0.51660	0.519124276232299	0.51835	.	.	0.826809287071	0.86074	D	0.020891	0.54018	T	-0.115741	0.33822	T	-0.40403	0.32915	T	0.899817109107971	0.55220	D	0.840916	0.51656	T	0.23246069	0.46034	0.24262674	0.49688	0.23246069	0.46034	0.24262674	0.49687	-4.972	0.36534	T	.	.	0.091	0.18787	B	.;.;.;.	.;.;.;.	3.639846	0.51603	23.1	0.96283359082445996	0.29289	0.93749	0.59081	D	ALL	0.585793	0.58408	D	0.0756035411718315	0.45325	2.791053	0.159163284670577	0.47628	2.990335	1.0	0.98316	0.437478	0.07067	0	0.606814	0.50340	0	0.503968	0.08637	0	0.56214	0.19341	0	.	.	4.47	4.47	0.53770	6.526000	0.73708	.	.	0.467000	0.21759	0.992000	0.37556	1.000000	0.68203	0.994000	0.71098	0.0:1.0:0.0:0.0	14.164	0.65000	744	0.52588	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.02381	1223.98	34	chr19	40570643	.	C	A	1223.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.634;DP=830;ExcessHet=0.0000;FS=0.765;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.49;ReadPosRankSum=-1.013e+00;SOR=0.804	GT:AD:DP:GQ:PL	0/1:45,53:98:99:1238,0,964	20	0	1	0
chr19	40667990	40667993	CTGT	0	exonic	NUMBL	.	.	.	.	.	0	27	2	1	196	200	0.0689655	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5952	778.0	37	chr19	40667990	.	CTGT	*,C	778.0	.	AC=25,1;AF=0.595,0.024;AN=42;DP=1037;ExcessHet=0.3152;FS=2.665;InbreedingCoeff=0.2195;MLEAC=25,1;MLEAF=0.595,0.024;MQ=60.00;QD=0.91;SOR=0.513	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:32,15,0:47:99:0|1:40667975_C_T:524,0,1279,620,1324,1945:40667975	4	8	8	0
chr19	43873448	43873448	G	A	exonic	ZNF404	.	stopgain	ZNF404:NM_001033719:exon2:c.C757T:p.R253X,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	T	.	.	.	.	.	.	1.000	D	.	.	.	.	.	.	.	.	.	0.666	7.566	2.56	1.421	-0.453	3.301	.	.	.	0.000199681	4.993e-05	0	0.0003	0.0001	0	3.009e-05	0	0	6.47e-05	10	154602	rs553935311	3.558e-05	3.557e-05	2.996e-05	4.127e-05	0.0003	2.763e-05	2.502e-05	0.0002	0.0001	0	0.0003	0	0.0001	0	0	2.519e-05	8.284e-05	2.319e-05	6.575e-05	6.564e-05	6.432e-05	6.725e-05	0.0010	3.519e-05	2.618e-05	0.0004	0.0002	7.227e-05	0	0	0	0.0010	0	0	2.944e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.031	0.00770	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0999046	0.64281	D	0.207451	0.83531	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive;.	High;.	5.709883	0.93164	33	0.9952932811950691	0.69777	0.00249	0.01374	N	AEFGBCI	0.054398	0.09887	N	0.168249409463448	0.49678	3.165591	-0.224617382529198	0.30656	1.727974	0.0153396575346067	0.12702	0.638212	0.43195	0	0.670034	0.63936	0	0.618467	0.43123	0	0.668105	0.65232	0	.	.	2.56	2.56	0.29842	-0.797000	0.04675	.	.	-0.428000	0.05209	0.000000	0.06391	0.000000	0.08366	0.042000	0.14466	0.1454:0.0:0.5951:0.2595	3.301	0.06571	895	0.25842	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	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2363.98	42	chr19	43873448	.	G	A	2363.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.42;DP=1750;ExcessHet=0.0000;FS=1.726;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.65;ReadPosRankSum=-3.540e-01;SOR=0.855	GT:AD:DP:GQ:PL	0/1:112,91:203:99:2378,0,2700	20	0	1	0
chr19	44386686	44386686	C	T	exonic	ZNF285	.	nonsynonymous SNV	ZNF285:NM_001291491:exon3:c.G1094A:p.G365D	.	.	422	1096	4	0	0	4	0.00182149	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.984	D	0.77	P	.	.	1.000	N	0.775	N	2.24	T	-1.058	T	0.034	T	0.368	2.311	13.69	1.14	0.624	0.308	9.143	0.082	0.00692134794205	0.0013	0.00199681	0.0012	0.0031	0.0005	0.0058	0.0002	0.0007	0.0011	0.0002	0.0010737	166	154602	rs138001522	0.0006	0.0006	0.0006	0.0007	0.0119	0.0006	0.0006	0.0110	0.0107	0.0034	0.0005	3.826e-05	0.0119	0.0002	0.0007	0.0002	0.0008	0.0002	0.0014	0.0014	0.0013	0.0014	0.0073	0.0012	0.0012	0.0055	0.0049	0.0037	0	0.0003	0	0.0073	9.42e-05	0	0.0002	0.0014	0	.	.	.	0.134	0.34241	T	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	2.24	0.17923	T	.	.	.	0.204	0.26837	-1.0584	0.12159	T	0.034	0.14813	T	9	0.008098215	0.00184	T	0.006921	0.18317	T	0.082	0.23913	.	.	0.282575091529	0.27877	0.02777533647939042	0.02727	.	.	.	.	.	.	.	.	-0.192458	0.21898	T	-0.514229	0.20882	T	0.0232893378860421	0.01058	T	0.0626937	0.00456	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.511	0.68027	A	.;.;.	.;.;.	1.916175	0.24334	16.36	0.98224419557594878	0.39334	0.42142	0.26813	N	AEFBI	0.338274	0.43580	N	-0.123746210242039	0.36359	2.100654	-0.213694937580806	0.31043	1.753245	1.81328275425263E-4	0.05844	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.567892	0.33627	0	.	.	3.6	1.14	0.19817	0.042000	0.13834	.	.	0.511000	0.23309	0.000000	0.06391	0.000000	0.08366	0.993000	0.69303	0.1617:0.681:0.1573:0.0	9.143	0.36074	912	0.21483	.;.;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	0.025	3384.33	45	chr19	44386686	.	C	T	3384.33	.	AC=1;AF=0.025;AN=40;BaseQRankSum=-8.650e-01;DP=1293;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0256;MLEAC=1;MLEAF=0.025;MQ=55.69;MQRankSum=-8.124e+00;QD=18.80;ReadPosRankSum=0.582;SOR=0.695	GT:AD:DP:GQ:PL	0/1:91,89:180:99:3398,0,2376	19	0	1	1
chr19	45064488	45064493	TCCCGC	-	exonic	CLASRP	.	nonframeshift deletion	CLASRP:NM_001278439:exon12:c.1081_1086del:p.S367_R368del	.	.	298	1216	5	1	2	9	0.00287003	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0018	.	0.0007	0	0	0	0	0.0002	0	0.0010	3.84e-05	1	26028	rs762497121	0.0005	0.0005	0.0005	0.0005	0.0006	0.0005	0.0004	0.0005	0.0005	0.0002	0.0004	0	0.0002	0.0001	0	0.0005	0.0006	0.0006	0.0004	0.0004	0.0004	0.0003	0.0008	0.0003	0.0003	0.0004	0.0003	0.0002	0	0.0004	0	0	0	0	0.0005	0.0010	0.0008	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	759.94	34	chr19	45064487	.	GTCCCGC	G	759.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.570e-01;DP=755;ExcessHet=0.0000;FS=2.587;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=18.09;ReadPosRankSum=0.444;SOR=1.127	GT:AD:DP:GQ:PL	0/1:22,20:42:99:774,0,855	20	0	1	0
chr19	45349531	45349531	-	G	exonic	KLC3	.	frameshift insertion	KLC3:NM_177417:exon8:c.1073dupG:p.A359Gfs*6,	.	.	429	1088	3	0	2	5	0.00137678	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	.	0.0003	0	0	0	0	0.0006	0	0	0.0002523	39	154602	rs763155527	0.0003	0.0003	0.0002	0.0003	0.0007	0.0002	0.0002	0.0002	0.0001	0	8.97e-05	0.0055	2.522e-05	1.874e-05	0.0007	0.0002	0.0005	1.161e-05	0.0002	0.0002	0.0002	0.0003	0.0002	0.0002	0.0001	0.0001	7.895e-05	2.414e-05	0	0	0.0061	0	0	0	0.0002	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1092.94	33	chr19	45349531	.	C	CG	1092.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-7.610e-01;DP=797;ExcessHet=0.0000;FS=2.648;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.04;ReadPosRankSum=-1.147e+00;SOR=0.994	GT:AD:DP:GQ:PL	0/1:57,42:99:99:1107,0,1645	20	0	1	0
chr19	45642178	45642178	G	C	exonic	EML2	.	nonsynonymous SNV	EML2:NM_001193268:exon2:c.C347G:p.T116S	.	.	425	1087	10	0	0	10	0.00457875	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.91	T	0.011	B	0.016	B	.	.	1.000	D	-0.695	N	-0.65	T	-1.022	T	0.095	T	0.149	1.222	9.958	2.04	0.412	1.968	6.788	0.037	0.10136640185	.	0.00319489	0.0078	0.0061	0.0071	0	0	0.0054	0	0.0097	0.0010284	159	154602	rs541800318	0.0041	0.0039	0.0039	0.0042	0.0092	0.0040	0.0039	0.0072	0.0068	0.0006	0.0025	0.0030	2.808e-05	0.0018	0.0092	0.0042	0.0035	0.0075	0.0027	0.0027	0.0029	0.0024	0.0077	0.0025	0.0024	0.0057	0.0050	0.0008	0.0011	0.0024	0.0020	0.0002	0.0012	0	0.0040	0.0033	0.0077	0.493	0.07920	T	1.0	0.02453	T	.	.	.	.	.	.	.	.	.	.	0.993494	0.81001	N	.	.	.	-0.65	0.72237	T	-0.31	0.12099	N	0.137	0.13484	-1.0217	0.23162	T	0.095	0.35818	T	9	0.0064721406	0.00146	T	0.101366	0.77421	D	0.037	0.09474	0.244	0.17830	0.590049670599	0.58680	0.11486363384604088	0.11414	0.271104478552	0.29633	0.812290132046	0.83843	D	0.007335	0.06752	T	-0.423368	0.01629	T	-0.377747	0.35986	T	0.00479655556861439	0.00051	T	0.563244	0.26249	T	.	.	.	.	.	.	.	.	-2.385	0.05514	T	.	.	0.078	0.06990	B	.;.;.	.;.;.	2.545981	0.32943	19.19	0.9069818220400454	0.19948	0.84162	0.43245	D	ALL	0.173387	0.30046	N	-0.740736115010348	0.14887	0.745418	-0.543705437793406	0.20973	1.13241	0.999999999999993	0.74766	0.652421	0.48094	0	0.52208	0.09955	0	0.64067	0.45733	0	0.249971	0.05119	0	.	.	4.24	2.04	0.25787	3.017000	0.49302	7.324000	0.58176	0.673000	0.70640	1.000000	0.71638	1.000000	0.68203	0.839000	0.39591	0.2192:0.0:0.7808:0.0	6.788	0.22868	779	0.47767	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	948.98	33	chr19	45642178	.	G	C	948.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.044;DP=783;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.65;ReadPosRankSum=0.458;SOR=0.631	GT:AD:DP:GQ:PL	0/1:34,41:75:99:963,0,790	20	0	1	0
chr19	48140013	48140013	C	T	exonic	LIG1	.	nonsynonymous SNV	LIG1:NM_001289064:exon10:c.G841A:p.V281M	DNA ligase I deficiency (3)	.	415	1099	7	1	0	9	0.00407793	.	.	1158606	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.06	T	0.994	D	0.816	P	0.045	N	0.759	D	1.995	M	2.13	T	-0.992	T	0.058	T	0.407	2.974	15.92	1.55	0.195	0.553	7.081	0.103	.	0.0022	0.00199681	0.0033	9.639e-05	0.0004	0	0.0136	0.0032	0.0077	0.0050	0.0029689	459	154602	rs3730947	0.0027	0.0027	0.0026	0.0028	0.0055	0.0026	0.0026	0.0051	0.0049	0.0002	0.0004	0.0095	0	0.0153	0.0016	0.0020	0.0028	0.0055	0.0028	0.0028	0.0021	0.0035	0.0054	0.0026	0.0025	0.0038	0.0032	0.0006	0	0.0005	0.0101	0.0002	0.0165	0	0.0022	0.0019	0.0054	0.001	0.78490	D	0.002	0.79402	D	0.994	0.66517	D	0.816	0.58888	P	0.045139	0.23568	N	0.447839	0.759073	0.34017	D	2.135	0.59519	M	2.13	0.19588	T	-2.28	0.50830	N	0.386	0.47672	-0.9917	0.32167	T	0.058	0.24502	T	10	0.014671981	0.00308	T	.	.	.	0.103	0.29403	.	.	0.440394187108	0.43661	0.5568665366148533	0.55613	0.80779589675	0.66579	0.355817586184	0.18775	T	0.225735	0.59056	T	-0.435523	0.01374	T	-0.396595	0.33782	T	0.0345920890856649	0.02739	T	0.98999	0.96889	D	0.46690133	0.65099	0.4419109	0.67459	0.46690133	0.65100	0.4419109	0.67459	-9.456	0.72857	D	.	.	0.171	0.51703	B	.;.;.;.	.;.;.;.	2.513593	0.32468	19.05	0.99762343674211051	0.85172	0.08890	0.14750	N	AEFGBI	0.031938	0.03514	N	-0.122491504024009	0.36413	2.104502	-0.276718362843338	0.28866	1.612848	4.2750514314573E-4	0.06935	0.732398	0.92422	0	0.702456	0.74545	0	0.743671	0.96076	0	0.727631	0.95156	0	.	.	4.89	1.55	0.22356	0.416000	0.20918	1.646000	0.27819	0.599000	0.40250	0.092000	0.22623	0.925000	0.28409	0.825000	0.38878	0.0:0.6204:0.0:0.3796	7.081	0.24408	846	0.36215	DNA ligase, ATP-dependent, N-terminal;DNA ligase, ATP-dependent, N-terminal;.;.	.	.	.	.	rs3730947	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	2529.98	41	chr19	48140013	.	C	T	2529.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.77;DP=1035;ExcessHet=0.0000;FS=8.023;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.65;ReadPosRankSum=1.31;SOR=1.179	GT:AD:DP:GQ:PL	0/1:102,98:200:99:2544,0,2363	20	0	1	0
chr19	49154456	49154456	-	CATCAT	exonic	HRC	.	nonframeshift insertion	HRC:NM_002152:exon1:c.781_782insATGATG:p.D261_V262insDD,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4762	20926.44	44	chr19	49154453	.	ACAT	A,ACATCATCAT,ACATCAT	20926.44	.	AC=17,1,3;AF=0.405,0.024,0.071;AN=42;BaseQRankSum=0.276;DP=1607;ExcessHet=2.0051;FS=3.406;InbreedingCoeff=-0.0476;MLEAC=17,1,3;MLEAF=0.405,0.024,0.071;MQ=60.00;MQRankSum=0.00;QD=23.81;ReadPosRankSum=0.061;SOR=0.953	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,69,0,0:71:99:.:.:2887,211,0,2892,218,2932,2892,218,2932,2932	5	4	8	0
chr19	49154456	49154456	-	CAT	exonic	HRC	.	nonframeshift insertion	HRC:NM_002152:exon1:c.781_782insATG:p.D261_V262insD,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4762	20926.44	44	chr19	49154453	.	ACAT	A,ACATCATCAT,ACATCAT	20926.44	.	AC=17,1,3;AF=0.405,0.024,0.071;AN=42;BaseQRankSum=0.276;DP=1607;ExcessHet=2.0051;FS=3.406;InbreedingCoeff=-0.0476;MLEAC=17,1,3;MLEAF=0.405,0.024,0.071;MQ=60.00;MQRankSum=0.00;QD=23.81;ReadPosRankSum=0.061;SOR=0.953	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,69,0,0:71:99:.:.:2887,211,0,2892,218,2932,2892,218,2932,2932	5	4	8	0
chr19	50323234	50323234	G	C	exonic	KCNC3	.	nonsynonymous SNV	KCNC3:NM_001372305:exon2:c.C1491G:p.N497K	Spinocerebellar ataxia 13, Autosomal dominant	.	3	1517	2	0	0	2	0.000658762	.	.	1544272	not_provided|KCNC3-related_disorder	MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.69	T	0.602	P	0.186	B	.	.	1.000	D	1.1	L	-4.51	D	0.298	D	0.761	D	0.167	0.547	6.959	2.18	1.819	0.970	4.551	0.395	0.577166004186	.	0.000199681	0.0008	0	0	0	0	0	0	0.0029	0.000207	32	154602	rs572684513	0.0001	0.0001	6.816e-05	0.0002	0.0021	0.0001	0.0001	0.0019	0.0018	0	0	0	2.594e-05	0	0.0004	0	0.0002	0.0021	6.564e-05	6.561e-05	0	0.0001	0.0021	3.513e-05	2.614e-05	0.0011	0.0009	0	0	0	0	0	0	0	0	0	0.0021	0.147	0.26519	T	0.372	0.19304	T	0.431	0.39365	B	0.186	0.36104	B	.	.	.	.	0.999733	0.81001	D	1.79	0.46772	L	-4.51	0.97672	D	-2.59	0.55821	D	0.389	0.47949	0.298	0.87531	D	0.761	0.91847	D	9	0.024640888	0.00685	T	0.577166	0.96198	D	0.395	0.71004	0.277	0.23004	0.699144523917	0.69654	0.7035829312214221	0.70299	.	.	0.78668397665	0.79938	T	0.128426	0.48802	T	-0.228376	0.16864	T	-0.107298	0.62826	T	0.0699722757360497	0.08647	T	0.929107	0.73907	D	0.14716211	0.33654	0.12763014	0.30720	0.14716211	0.33654	0.12763014	0.30719	-6.557	0.50724	T	.	.	0.747	0.85185	P	.;.	.;.	3.444127	0.47929	22.5	0.98466085385434088	0.41803	0.95588	0.65322	D	AEFBI	0.528518	0.55001	D	-0.368236928850777	0.26607	1.453424	-0.348431341619238	0.26557	1.467697	0.0725376448880109	0.15604	0.660377	0.49826	0	0.633656	0.55848	0	0.696353	0.63694	0	0.604944	0.38103	0	.	.	3.22	2.18	0.26813	0.946000	0.28667	0.534000	0.19274	0.590000	0.31872	1.000000	0.71638	0.993000	0.31925	0.127000	0.19450	0.2711:0.0:0.7289:0.0	4.551	0.11510	628	0.65206	.;.	.	.	.	.	.	Uncertain significance	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	0	0	0	0.02381	1063.98	38	chr19	50323234	.	G	C	1063.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-8.000e-01;DP=796;ExcessHet=0.0000;FS=3.495;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.64;ReadPosRankSum=-4.850e-01;SOR=1.216	GT:AD:DP:GQ:PL	0/1:38,40:78:99:1078,0,988	20	0	1	0
chr19	50908759	50908759	C	T	exonic	KLK4	.	nonsynonymous SNV	KLK4:NM_001302961:exon3:c.G10A:p.A4T	Amelogenesis imperfecta, type IIA1, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06	T	0.24	B	0.095	B	0.148	N	1.000	N	0.19	N	-3.14	D	-0.525	T	0.435	T	0.199	1.762	11.85	-1.68	-0.259	-0.548	2.274	0.166	0.049184628977	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.143	0.43085	T	0.069	0.43913	T	.	.	.	.	.	.	0.147742	0.18071	N	0.406049	1	0.08975	N	.	.	.	-3.14	0.92884	D	-1.78	0.53420	N	0.128	0.12198	-0.5254	0.67714	T	0.435	0.77562	T	10	0.10483575	0.19347	T	0.049185	0.63702	D	0.166	0.42578	0.415	0.45380	0.715973634446	0.71348	0.6122378418497496	0.61155	0.405158307166	0.41409	0.29730540514	0.10000	T	.	.	.	-0.0374592	0.46326	T	-0.291584	0.45607	T	0.125725477933884	0.14981	T	0.625537	0.24174	T	.	.	.	.	.	.	.	.	-5.257	0.39516	T	.	.	0.242	0.47643	B	.;.	.;.	1.595215	0.20400	14.73	0.97721785097160163	0.35561	0.00725	0.03048	N	AEFDBI	0.029006	0.02658	N	-1.07649102869533	0.07078	0.3277713	-1.15384522408978	0.06699	0.3233348	0.829944388187711	0.24675	0.554377	0.28877	0	0.588066	0.40923	0	0.654281	0.52657	0	0.530356	0.10902	0	.	.	3.82	-1.68	0.07773	0.187000	0.16806	-0.314000	0.10017	-0.186000	0.09761	0.003000	0.16062	0.000000	0.08366	0.043000	0.14563	0.3066:0.2945:0.3015:0.0974	2.274	0.03847	799	0.44747	Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	1	0	0	0	0.02381	2312.98	35	chr19	50908759	.	C	T	2312.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.220e-01;DP=877;ExcessHet=0.0000;FS=1.215;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.29;ReadPosRankSum=-1.155e+00;SOR=0.582	GT:AD:DP:GQ:PL	0/1:80,94:174:99:2327,0,2028	20	0	1	0
chr19	51079551	51079551	G	A	exonic	KLK14	.	nonsynonymous SNV	KLK14:NM_001369775:exon4:c.C364T:p.R122W	.	.	424	1064	34	0	0	34	0.0157262	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.998	D	0.929	D	.	.	1.000	N	1.87	L	-2.51	D	-0.204	T	0.635	D	0.317	3.097	16.34	0.678	0.395	0.145	6.656	0.220	.	0.0075	0.00419329	0.0083	0.0025	0.0072	0.0001	0.0060	0.0102	0.0084	0.0102	0.0079365	1227	154602	rs112658494	0.0100	0.0100	0.0101	0.0099	0.0137	0.0098	0.0098	0.0113	0.0108	0.0018	0.0060	0.0065	5.038e-05	0.0055	0.0137	0.0110	0.0090	0.0107	0.0074	0.0074	0.0077	0.0071	0.0109	0.0071	0.0069	0.0103	0.0100	0.0024	0.0186	0.0074	0.0075	0.0002	0.0046	0.0238	0.0109	0.0109	0.0104	0.338	0.23183	T	0.017	0.60337	D	0.998	0.73220	D	0.929	0.66367	D	.	.	.	.	1	0.08975	N	1.78	0.46185	L	-2.47	0.89293	D	-3.55	0.74051	D	0.411	0.45142	-0.2042	0.77562	T	0.635	0.87226	D	9	0.014386356	0.00303	T	.	.	.	0.220	0.51569	.	.	0.811110782611	0.80934	0.6282621342850477	0.62759	0.596895955248	0.54907	0.476279169321	0.35544	T	0.372321	0.73653	T	-0.357965	0.04246	T	-0.276581	0.47154	T	0.0444715671153752	0.04506	T	0.434357	0.11884	T	0.20042667	0.42018	0.22102161	0.46898	0.20042667	0.42017	0.22102161	0.46897	-6.713	0.51908	T	.	.	0.210	0.43707	B	.;.;.	.;.;.	3.197651	0.43469	21.7	0.99809278564540604	0.89353	0.09311	0.15093	N	AEFDBCI	0.133143	0.25270	N	-0.240936203016391	0.31467	1.764708	-0.480575321267949	0.22688	1.233621	0.00406709125317699	0.10401	0.553676	0.25195	0	0.588015	0.36545	0	0.576033	0.28219	0	0.604944	0.38103	0	.	.	4.81	0.678	0.17136	-0.427000	0.07068	.	.	-0.251000	0.07141	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0928:0.0:0.4488:0.4584	6.656	0.22179	958	0.09170	.;Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	888.98	33	chr19	51079551	.	G	A	888.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.077;DP=784;ExcessHet=0.0000;FS=1.813;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.98;ReadPosRankSum=-2.170e-01;SOR=0.493	GT:AD:DP:GQ:PL	0/1:42,39:81:99:903,0,966	20	0	1	0
chr19	51491780	51491780	G	A	exonic	SIGLEC12	.	nonsynonymous SNV	SIGLEC12:NM_033329:exon7:c.C1295T:p.P432L	.	.	407	1085	30	0	0	30	0.0136364	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.12	T	0.978	D	0.411	B	.	.	1.000	N	2.02	M	0.86	T	-0.993	T	0.113	T	0.197	0.839	8.389	-0.29	0.026	-0.678	3.308	0.029	.	0.0029	0.00339457	0.0065	0.0007	0.0037	0	0.0008	0.0045	0.0197	0.0294	0.0059378	918	154602	rs148583756	0.0043	0.0043	0.0036	0.0050	0.0250	0.0042	0.0042	0.0241	0.0238	0.0007	0.0032	0.0226	7.577e-05	0.0008	0.0123	0.0026	0.0055	0.0250	0.0033	0.0033	0.0030	0.0036	0.0216	0.0030	0.0029	0.0183	0.0170	0.0008	0.0011	0.0028	0.0237	0.0002	0.0003	0.0136	0.0032	0.0033	0.0216	0.039	0.42487	D	0.004	0.74150	D	0.059	0.58756	B	0.012	0.44827	B	.	.	.	.	1	0.08975	N	1.565	0.39561	L	0.86	0.46777	T	-3.03	0.62747	D	0.076	0.12627	-0.9929	0.31853	T	0.113	0.40307	T	9	0.005008042	0.00108	T	.	.	.	0.029	0.06676	.	.	0.320256813643	0.31633	0.0927146187490486	0.09203	0.0467582809392	0.05084	0.319799989462	0.13390	T	0.007289	0.06705	T	-0.585534	0.00178	T	-0.594259	0.13300	T	0.00936255406809378	0.00120	T	0.437456	0.12031	T	0.03649728	0.04500	0.053342342	0.08965	0.03649728	0.04499	0.053342342	0.08964	-4.158	0.26141	T	.	.	0.076	0.05935	B	.;.	.;.	0.360670	0.07334	3.949	0.90402295192980797	0.19663	0.00442	0.02154	N	AEFDBI	0.047985	0.08140	N	-0.746523125541995	0.14728	0.7361206	-0.955227494355757	0.10802	0.54642	8.23005530856632E-5	0.04703	0.516011	0.20929	0	0.610034	0.51514	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	2.08	-0.29	0.12211	-0.494000	0.06532	.	.	-0.121000	0.13915	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.174:0.276:0.5501:0.0	3.308	0.06595	946	0.12043	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.07143	6049.68	113	chr19	51491780	.	G	A	6049.68	.	AC=3;AF=0.071;AN=42;BaseQRankSum=0.498;DP=1268;ExcessHet=0.3300;FS=1.211;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=15.28;ReadPosRankSum=0.613;SOR=0.763	GT:AD:DP:GQ:PL	0/1:63,69:132:99:1964,0,1451	18	0	3	0
chr19	52384817	52384817	-	TTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAG	exonic	ZNF880	.	frameshift insertion	ZNF880:NM_001145434:exon4:c.1237_1238insTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAG:p.C413Ffs*26,	.	.	356	750	399	11	6	427	0.219157	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0.0005	9.004e-05	0.0002	0	0.0002	0.0011	0.0001	.	.	.	.	0.0011	0.0034	0.0011	0.0011	0.0017	0.0011	0.0010	0.0015	0.0014	0.0015	0.0014	0.0027	0.0017	0.0016	0.0012	0.0009	0.0017	0.0017	0.0051	0.0069	0.0056	0.0045	0.0071	0.0048	0.0046	0.0051	0.0050	0.0046	0.0045	0.0056	0.0051	0.0026	0.0033	0.0106	0.0056	0.0030	0.0071	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2857	8259.44	38	chr19	52384817	.	T	TTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAG,TTTGGGAGGCCGAGGCGG	8259.44	.	AC=1,11;AF=0.024,0.262;AN=42;BaseQRankSum=2.83;DP=1581;ExcessHet=9.6308;FS=104.319;InbreedingCoeff=-0.4000;MLEAC=1,11;MLEAF=0.024,0.262;MQ=58.44;MQRankSum=-8.940e-01;QD=11.25;ReadPosRankSum=-1.179e+00;SOR=7.257	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:69,0,12:81:99:1|0:52384795_G_A:284,493,3393,0,2899,2863:52384795	9	0	1	0
chr19	54463480	54463480	G	A	exonic	LENG9	.	nonsynonymous SNV	LENG9:NM_001301782:exon1:c.C47T:p.T16M	.	.	421	1054	44	3	0	50	0.0231696	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.991	D	0.301	B	0.044	U	1.000	N	0.69	N	1.5	T	-1.052	T	0.018	T	0.112	2.727	15.08	0.368	0.011	0.046	3.633	0.082	.	.	0.0071885	0.0667	0	0	0	.	0.125	0.1667	0.0619	0.0018305	283	154602	rs144782338	0.0074	0.0069	0.0072	0.0076	0.0358	0.0072	0.0072	0.0304	0.0284	0.0019	0.0071	0.0287	0.0015	0.0098	0.0358	0.0068	0.0096	0.0142	0.0060	0.0061	0.0058	0.0063	0.0153	0.0057	0.0056	0.0125	0.0115	0.0012	0	0.0105	0.0308	0.0014	0.0067	0.0377	0.0063	0.0081	0.0153	.	.	.	0.054	0.47097	T	.	.	.	.	.	.	0.043755	0.01924	U	3.158330	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.132	0.12770	-1.0515	0.13981	T	0.018	0.07282	T	10	0.0029560328	0.00048	T	.	.	.	.	.	.	.	.	.	0.2530297997198586	0.25216	.	.	0.756334781647	0.75384	T	0.012156	0.10734	T	-0.463156	0.00939	T	-0.423788	0.30643	T	0.0473489084509676	0.05028	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.148	0.32780	B	.	.	1.141636	0.15289	11.74	0.99015246300985382	0.50463	0.00856	0.03410	N	ALL	0.042906	0.06716	N	-0.802475667646566	0.13247	0.6512318	-0.979959058866059	0.10236	0.5142262	0.999999999956359	0.74766	0.024636	0.00146	3	0.218748	0.04544	0	0.239995	0.05000	1	0.56214	0.19341	0	.	.	2.81	0.368	0.15378	0.092000	0.14905	.	.	-0.249000	0.07183	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.1513:0.0:0.5955:0.2532	3.633	0.07681	982	0.03397	.	.	.	.	.	.	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	0.02381	596.98	29	chr19	54463480	.	G	A	596.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.18;DP=623;ExcessHet=0.0000;FS=1.242;InbreedingCoeff=-0.0245;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.56;ReadPosRankSum=0.227;SOR=0.588	GT:AD:DP:GQ:PL	0/1:16,25:41:99:611,0,292	20	0	1	0
chr19	54633108	54633108	T	C	exonic	LILRB1	.	nonsynonymous SNV	LILRB1:NM_001081637:exon7:c.T1051C:p.W351R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.54	T	0.0	B	0.005	B	0.000	N	1.000	N	0.64	N	4.11	T	-0.937	T	0.006	T	0.074	-0.437	1.968	-4.16	-1.178	-4.299	2.666	0.016	0.000983764574232	.	.	3.295e-05	0	0	0	0	0	0	0.0002	2.59e-05	4	154602	rs765206177	1.262e-05	1.321e-05	1.117e-05	1.408e-05	0.0002	7.89e-06	6.51e-06	0.0001	8.812e-05	3.147e-05	0	0	0	0	0	0	3.399e-05	0.0002	2.098e-05	2.088e-05	2.735e-05	1.431e-05	0.0007	5.58e-06	2.55e-06	0.0002	9.61e-05	0	0	0	0	0	0	0	0	0	0.0007	0.426	0.09746	T	0.473	0.12281	T	0.0	0.02946	B	0.002	0.06944	B	0.000057	0.00387	N	14.826600	1	0.08975	N	.	.	.	4.11	0.02916	T	-1.47	0.45042	N	0.058	0.03175	-0.9373	0.43041	T	0.006	0.02168	T	10	0.032902986	0.01452	T	9.84E-4	0.01026	T	0.016	0.02506	0.42	0.46200	0.355658859761	0.35178	0.06504777047916012	0.06443	0.0951957454739	0.10748	0.260372936726	0.04935	T	0.003953	0.03423	T	-0.602758	0.00140	T	-0.799049	0.01926	T	0.0297089204965355	0.01945	T	0.0123321	0.00111	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.246	0.48827	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	-0.464652	0.01982	0.173	0.27383360219759167	0.01357	0.00158	0.00946	N	AEFDBHCI	0.036166	0.04774	N	-2.07763132330582	0.00143	0.006134361	-2.16231796484525	0.00136	0.005972342	0.998419139002024	0.36924	0.645754	0.44609	0	0.696144	0.67643	0	0.578056	0.29568	0	0.564101	0.26826	0	.	.	2.25	-4.16	0.03606	-3.674000	0.00445	.	.	-1.333000	0.01212	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.3566:0.2413:0.0:0.4021	2.666	0.04739	809	0.43032	Immunoglobulin|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.4762	75915.23	337	chr19	54633108	.	T	G,C	75915.23	.	AC=19,1;AF=0.452,0.024;AN=42;BaseQRankSum=1.38;DP=7609;ExcessHet=43.6797;FS=0.000;InbreedingCoeff=-0.9091;MLEAC=19,1;MLEAF=0.452,0.024;MQ=57.07;MQRankSum=-1.416e+01;QD=10.13;ReadPosRankSum=3.92;SOR=0.761	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:272,145,0:417:99:0|1:54633108_T_G:5270,0,10906,6089,11342,17431:54633108	1	0	19	0
chr19	54739533	54739533	C	A	exonic	KIR2DL1;KIR2DL2;KIR2DL3;KIR2DS2;KIR2DS3;LOC102725023	.	nonsynonymous SNV	KIR2DS2:NM_001291695:exon2:c.C61A:p.P21T	.	.	407	439	674	2	0	678	0.435733	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.999	D	.	.	1.000	N	2.195	M	7.25	T	-0.797	T	0.003	T	0.159	-2.076	0.006	-0.836	-3.588	-0.374	0.314	0.067	0.000629482271791	.	.	1.26e-05	0	0	0	0	0	0	0.0002	0.0001153	3	26028	rs143258060	0.0001	0.0014	0.0001	0.0001	0.0003	0.0001	9.739e-05	0.0002	0.0002	0	0.0002	0	7.578e-05	0.0015	0.0002	4.598e-05	8.31e-05	0.0003	0.0003	0.0064	0.0002	0.0005	0.0007	0.0002	0.0002	0.0004	0.0003	9.821e-05	0	0.0007	0	0.0002	0.0010	0	0.0003	0	0.0004	0.0	0.91255	D	0.05	0.48080	T	0.039	0.21116	B	0.022	0.19653	B	.	.	.	.	1	0.08975	N	1.675	0.43121	L	7.25	0.00428	T	-2.83	0.59710	D	0.057	0.02861	-0.7967	0.55338	T	0.003	0.00929	T	9	0.04721421	0.04010	T	6.29E-4	0.00319	T	0.067	0.19503	0.275	0.22687	0.333906830038	0.33007	0.11003837353837338	0.10932	3.22852605899	0.99523	.	.	.	0.024485	0.18493	T	-0.40546	0.02131	T	-0.633654	0.10139	T	0.262085987067051	0.23406	T	.	.	.	0.08533072	0.19789	0.12122417	0.29249	0.08533072	0.19789	0.12122417	0.29248	-6.294	0.48674	T	.	.	0.091	0.13268	B	.	.	-0.337065	0.02459	0.283	0.40733743298301972	0.02894	0.00183	0.01069	N	AEFDGBI	0.020550	0.00823	N	-1.61360564278005	0.01198	0.05208234	-1.880969786367	0.00533	0.02366577	0.225960784001686	0.18410	0.487112	0.14033	0	0.563428	0.19063	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	0.418	-0.836	0.10225	-1.270000	0.02939	.	.	-4.224000	0.00037	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.3954:0.2043:0.1975:0.2028	0.314	0.00272	964	0.07719	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.4	11817.48	33	chr19	54739533	.	C	A	11817.48	.	AC=16;AF=0.400;AN=40;BaseQRankSum=-1.378e+00;DP=7438;ExcessHet=20.9642;FS=1.551;InbreedingCoeff=-0.6399;MLEAC=16;MLEAF=0.400;MQ=55.59;MQRankSum=1.01;QD=1.92;ReadPosRankSum=1.26;SOR=0.542	GT:AD:DP:GQ:PL	0/1:389,64:453:99:493,0,10573	4	0	16	1
chr19	54742019	54742019	C	T	exonic	KIR2DL1;KIR2DL2;KIR2DL3;KIR2DS2;KIR2DS3;LOC102725023	.	nonsynonymous SNV	KIR2DS2:NM_001291695:exon3:c.C110T:p.P37L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.181	B	0.069	B	.	.	1.000	N	2.52	M	5.76	T	-1.016	T	0.017	T	0.347	0.259	5.400	0.507	0.253	1.801	5.886	0.076	0.00102173653182	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.394e-07	7.092e-07	0	1.485e-06	2.396e-05	0	0	.	.	0	2.396e-05	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.01	0.65728	D	0.181	0.29111	B	0.041	0.23986	B	.	.	.	.	1	0.08975	N	2.56	0.74772	M	3.95	0.03382	T	-6.54	0.91786	D	0.223	0.25006	-1.0164	0.24884	T	0.017	0.06807	T	9	0.12389034	0.23525	T	0.001022	0.01120	T	0.076	0.22200	0.37	0.38013	0.335164054921	0.33125	0.19209035572317168	0.19127	1.791941562	0.91524	.	.	.	0.020233	0.15966	T	-0.175002	0.24481	T	-0.489154	0.23479	T	0.20912588440861	0.20907	T	.	.	.	0.17275815	0.37985	0.1681736	0.38757	0.17275815	0.37985	0.1681736	0.38756	-8.822	0.66544	D	.	.	0.125	0.26514	B	.	.	1.590162	0.20337	14.70	0.57320471306848364	0.05743	0.01560	0.05104	N	AEFI	0.030433	0.03063	N	-1.06537834965913	0.07289	0.338164	-1.21954413589658	0.05596	0.2670848	1.74798417143001E-6	0.01202	0.487112	0.14033	0	0.59043	0.45803	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	1.6	0.507	0.16168	1.859000	0.39058	.	.	0.303000	0.18983	0.004000	0.16614	0.000000	0.08366	0.003000	0.05239	0.0:0.6648:0.3352:0.0	5.886	0.18127	964	0.07719	Immunoglobulin|Immunoglobulin subtype	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.3571	38391.65	39	chr19	54742019	.	C	G,T	38391.65	.	AC=15,1;AF=0.357,0.024;AN=42;BaseQRankSum=-4.248e+00;DP=5023;ExcessHet=10.5502;FS=2.011;InbreedingCoeff=-0.4135;MLEAC=15,1;MLEAF=0.357,0.024;MQ=49.81;MQRankSum=0.016;QD=8.38;ReadPosRankSum=0.547;SOR=0.509	GT:AD:DP:GQ:PL	0/1:208,115,0:323:99:2583,0,6218,3208,6563,9772	6	0	14	0
chr19	54760683	54760683	G	C	exonic	LOC112267881	.	unknown	UNKNOWN,	.	.	421	1091	9	0	1	10	0.00410771	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00359425	.	.	.	.	.	.	.	.	0.0004398	68	154602	rs146118066	0.0040	0.0040	0.0040	0.0039	0.0047	0.0039	0.0039	0.0043	0.0042	0.0005	0.0032	0.0038	5.064e-05	0.0008	0.0035	0.0044	0.0035	0.0047	0.0027	0.0027	0.0029	0.0025	0.0057	0.0025	0.0024	0.0040	0.0034	0.0008	0	0.0033	0.0049	0.0004	0.0010	0	0.0038	0.0034	0.0057	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2773.98	37	chr19	54760683	.	G	C	2773.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.828e+00;DP=3811;ExcessHet=0.0000;FS=12.765;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=58.10;MQRankSum=8.46;QD=24.77;ReadPosRankSum=0.786;SOR=0.060	GT:AD:DP:GQ:PL	0/1:12,100:112:99:2788,0,204	20	0	1	0
chr19	54767353	54767353	A	0	exonic	KIR2DL1;LOC112267881	.	.	.	.	.	444	526	404	111	37	663	0.373063	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3571	59730.09	38	chr19	54767353	.	A	C,*	59730.09	.	AC=13,2;AF=0.310,0.048;AN=42;BaseQRankSum=-1.860e+00;DP=4843;ExcessHet=0.1361;FS=0.529;InbreedingCoeff=0.2741;MLEAC=13,2;MLEAF=0.310,0.048;MQ=58.91;MQRankSum=0.00;QD=14.36;ReadPosRankSum=0.166;SOR=0.739	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:1,293,0:294:99:.:.:8394,871,0,8397,878,8404	10	4	5	0
chr19	54769866	54769866	G	A	exonic	KIR2DL1;LOC112267881	.	nonsynonymous SNV	LOC112267881:NM_001368251:exon1:c.G16A:p.V6I	.	.	423	1018	81	0	0	81	0.0382617	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	0.013	B	0.009	B	.	.	1.000	N	0.72	N	7.18	T	-0.961	T	0.001	T	0.161	-0.160	3.220	-1.03	-0.402	-0.324	.	0.017	0.0082991101408	.	.	4.241e-05	0.0002	8.884e-05	0	0	3.095e-05	0	0	0.0005692	88	154602	rs375195215	0.0002	0.0019	0.0002	0.0003	0.0009	0.0002	0.0002	0.0007	0.0006	0.0006	0.0009	0.0007	2.545e-05	0.0004	0.0002	0.0002	0.0002	0.0004	0.0005	0.0063	0.0005	0.0005	0.0011	0.0004	0.0004	0.0008	0.0007	0.0011	0	0.0004	0	0	0.0005	0	0.0003	0	0.0010	0.112	0.30235	T	0.681	0.10245	T	0.013	0.16609	B	0.009	0.14300	B	.	.	.	.	0.999974	0.81001	N	.	.	.	7.18	0.00438	T	-0.52	0.16393	N	0.078	0.05287	-0.9611	0.38974	T	0.001	0.00287	T	8	0.042778373	0.03059	T	0.008299	0.21979	T	0.017	0.02790	.	.	0.163833314356	0.15978	0.07523266231580931	0.07459	0.258293071172	0.28385	0.446146994829	0.31418	T	0.011846	0.10509	T	-0.454054	0.01069	T	-0.653325	0.08723	T	0.0061362524239717	0.00068	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.091	0.15564	B	.;.	.;.	0.228841	0.06102	2.548	0.76514937681009665	0.11499	0.00123	0.00769	N	AEFBI	0.020265	0.00784	N	-1.40368950837253	0.02606	0.1153194	-1.52506351735761	0.02152	0.098572	2.19688426057424E-6	0.01202	0.487112	0.14033	0	0.59043	0.45803	0	0.514364	0.09456	0	0.564101	0.26826	0	.	.	0.514	-1.03	0.09586	0.333000	0.19512	.	.	-1.352000	0.01191	0.021000	0.19753	0.000000	0.08366	0.002000	0.04165	.	.	.	976	0.04745	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.1053	440.06	36	chr19	54769866	.	G	A	440.06	.	AC=4;AF=0.105;AN=38;BaseQRankSum=4.52;DP=3805;ExcessHet=0.6776;FS=4.677;InbreedingCoeff=-0.1398;MLEAC=4;MLEAF=0.105;MQ=57.10;MQRankSum=-7.783e+00;QD=0.54;ReadPosRankSum=-2.840e+00;SOR=1.382	GT:AD:DP:GQ:PL	0/1:169,18:187:99:104,0,6525	15	0	4	2
chr19	54847203	54847203	T	0	exonic	KIR2DS1;KIR2DS2;KIR2DS3;KIR2DS4;KIR2DS5;KIR3DS1;LOC102725023;LOC112268355	.	.	.	.	.	377	455	672	5	13	695	0.428392	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4048	15952.71	34	chr19	54847203	.	T	C,*	15952.71	.	AC=11,6;AF=0.262,0.143;AN=42;BaseQRankSum=-1.075e+00;DP=8145;ExcessHet=25.1139;FS=1.133;InbreedingCoeff=-0.6800;MLEAC=11,6;MLEAF=0.262,0.143;MQ=59.51;MQRankSum=-4.222e+00;QD=2.08;ReadPosRankSum=-1.400e-01;SOR=0.815	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:336,109,85:530:99:.:.:2239,415,11016,0,8339,15617	4	0	11	0
chr19	55358524	55358524	C	0	exonic	FAM71E2	.	.	.	.	.	438	22	102	3	957	1065	0.710526	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.9286	1402.14	99	chr19	55358524	.	C	*,T	1402.14	.	AC=39,1;AF=0.929,0.024;AN=42;DP=2198;ExcessHet=0.1072;FS=0.000;InbreedingCoeff=-0.0500;MLEAC=39,1;MLEAF=0.929,0.024;MQ=60.00;QD=0.80;SOR=0.839	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,87,0:87:99:.:.:3809,269,0,3809,269,3809	0	18	2	0
chr19	55358535	55358535	T	0	exonic	FAM71E2	.	.	.	.	.	454	13	102	3	950	1058	0.80597	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.9286	1530.14	99	chr19	55358535	.	T	*,C	1530.14	.	AC=39,1;AF=0.929,0.024;AN=42;DP=2199;ExcessHet=0.1072;FS=0.000;InbreedingCoeff=-0.0500;MLEAC=39,1;MLEAF=0.929,0.024;MQ=60.00;QD=0.88;SOR=0.838	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,87,0:87:99:.:.:3809,269,0,3809,269,3809	0	18	2	0
chr19	55481917	55481917	C	G	exonic	ZNF628	.	nonsynonymous SNV	ZNF628:NM_033113:exon3:c.C724G:p.Q242E,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.95	T	0.011	B	0.003	B	0.783	N	1.000	N	0.345	N	3.2	T	-0.956	T	0.011	T	0.088	-2.839	0	1.01	1.282	0.151	5.466	0.043	0.0286188479326	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.515e-07	6.855e-07	1.481e-06	0	9.498e-07	0	0	.	.	0	0	0	0	0	0	9.498e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.858	0.03428	T	.	.	.	.	.	.	0.782614	0.06663	N	1.199260	1	0.08975	N	-0.035	0.05024	N	3.2	0.07236	T	.	.	.	0.093	0.07262	-0.9562	0.39879	T	0.011	0.04321	T	10	0.063369215	0.08245	T	0.028619	0.51266	D	0.043	0.11576	.	.	0.043077524339	0.03247	0.09234534845991499	0.09166	.	.	0.785524249077	0.79763	T	0.014435	0.12290	T	-0.368847	0.03652	T	-0.7676	0.02848	T	0.0490656781354599	0.05334	T	0.156884	0.01387	T	0.045974147	0.07617	0.037495505	0.03413	0.045974147	0.07617	0.037495505	0.03413	-3.517	0.16671	T	.	.	0.088	0.11749	B	.;.	.;.	-0.471074	0.01961	0.169	0.57804260389728446	0.05850	0.05971	0.11931	N	AEFDGBCI	0.058448	0.10966	N	-1.16221193836769	0.05581	0.2548322	-1.18170442170223	0.06215	0.2984753	0.999474757068612	0.39898	0.495158	0.18159	0	0.550933	0.16991	0	0.535252	0.11790	0	0.528226	0.09195	0	.	.	2.27	1.01	0.19044	0.327000	0.19408	-1.116000	0.06283	0.384000	0.20435	0.000000	0.06391	0.000000	0.08366	0.012000	0.09680	0.33:0.67:0.0:0.0	5.466	0.15938	970	0.06235	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	322.98	23	chr19	55481917	.	C	G	322.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-8.830e-01;DP=859;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.23;ReadPosRankSum=-4.380e-01;SOR=0.656	GT:AD:DP:GQ:PL	0/1:21,14:35:99:337,0,611	20	0	1	0
chr19	57573220	57573220	G	C	exonic	ZNF416	.	nonsynonymous SNV	ZNF416:NM_001353405:exon3:c.C468G:p.H156Q	.	.	426	1064	32	0	0	32	0.0148148	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.41	T	0.035	B	0.004	B	.	.	1.000	N	0.935	L	3.24	T	-0.994	T	0.008	T	0.117	-0.152	3.259	-7.09	-3.127	-1.685	4.009	0.007	.	0.0058	0.00439297	0.0060	0.0012	0.0021	0	0.0095	0.0073	0.0066	0.0085	0.0058667	907	154602	rs145794172	0.0074	0.0074	0.0073	0.0074	0.0106	0.0073	0.0072	0.0085	0.0079	0.0007	0.0035	0.0028	2.519e-05	0.0091	0.0106	0.0078	0.0090	0.0086	0.0059	0.0059	0.0059	0.0059	0.0083	0.0055	0.0054	0.0075	0.0073	0.0013	0.0055	0.0076	0.0012	0	0.0097	0.0068	0.0081	0.0090	0.0083	0.165	0.23271	T	0.132	0.34477	T	0.035	0.20614	B	0.004	0.10090	B	.	.	.	.	1	0.08975	N	0.785	0.19527	N	3.24	0.06845	T	-4.87	0.81269	D	0.061	0.03283	-0.9943	0.31485	T	0.008	0.02968	T	9	0.004246503	0.00085	T	.	.	.	0.007	0.00512	0.294	0.25720	0.0482279557977	0.04254	0.01641161655061311	0.01597	0.237101060126	0.26249	0.245162144303	0.03276	T	0.219429	0.58244	T	-0.685344	0.00045	T	-0.74783	0.03571	T	0.0223640182416722	0.00950	T	0.0281972	0.00174	T	0.06999825	0.15382	0.13588358	0.32522	0.06999825	0.15382	0.13588358	0.32521	-2.779	0.07991	T	.	.	0.108	0.20508	B	.	.	-1.202347	0.00528	0.012	0.34883764537529655	0.02159	0.02714	0.07370	N	AEFBHCI	0.028361	0.02483	N	-2.06612509115374	0.00152	0.00650423	-2.18827142712601	0.00119	0.00522519	0.999545044357143	0.40300	0.706548	0.73137	0	0.653731	0.59785	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	3.55	-7.09	0.01399	-2.087000	0.01447	.	.	-1.485000	0.01053	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.1783:0.2491:0.4888:0.0837	4.009	0.09103	988	0.01987	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	2975.98	35	chr19	57573220	.	G	C	2975.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.820e-01;DP=1196;ExcessHet=0.0000;FS=4.194;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.62;ReadPosRankSum=0.136;SOR=0.492	GT:AD:DP:GQ:PL	0/1:140,116:256:99:2990,0,3837	20	0	1	0
chr19	58352287	58352289	CTC	-	exonic	A1BG	.	nonframeshift deletion	A1BG:NM_130786:exon4:c.607_609del:p.E203del,	.	.	423	1098	1	0	0	1	0.000455166	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.32e-06	0	0	0	0	1.513e-05	0	0	6.5e-06	1	154602	rs781356828	4.791e-06	4.788e-06	4.085e-06	5.504e-06	0.0004	1.99e-06	1.28e-06	6.253e-05	2.581e-05	0	0	0	0	0	0.0004	2.699e-06	3.314e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2346.94	37	chr19	58352286	.	GCTC	G	2346.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.510;DP=875;ExcessHet=0.0000;FS=3.527;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=21.34;ReadPosRankSum=0.533;SOR=0.793	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:50,60:110:99:0|1:58352286_GCTC_G:2361,0,1876:58352286	20	0	1	0
chr19	58352294	58352294	A	G	exonic	A1BG	.	nonsynonymous SNV	A1BG:NM_130786:exon4:c.T602C:p.I201T,	.	.	424	1097	1	0	0	1	0.000455581	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.996	D	0.942	D	0.050	N	1.000	N	2.545	M	2.62	T	-1.090	T	0.086	T	0.241	1.221	9.954	3.39	1.788	0.259	8.501	0.055	0.0127651583795	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1488563062	6.158e-06	6.156e-06	5.446e-06	6.877e-06	0.0004	2.9e-06	2.1e-06	6.157e-05	2.545e-05	0	0	0	0	0	0.0004	2.698e-06	3.312e-05	2.319e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.006	0.70582	D	0.996	0.68779	D	0.942	0.67772	D	0.050132	0.23099	N	0.312671	0.999998	0.08975	N	3.06	0.86941	M	2.62	0.12988	T	-3.16	0.64246	D	0.34	0.38129	-1.0901	0.05515	T	0.086	0.33382	T	10	0.34220207	0.51256	T	0.012765	0.31612	T	0.055	0.15663	0.49	0.57573	0.535537035517	0.53204	0.4831815733203063	0.48238	1.16018871678	0.79457	0.590018510818	0.51497	T	0.547466	0.84616	D	-0.245077	0.14708	T	-0.492959	0.23080	T	0.891608655452728	0.54258	D	0.636336	0.25008	T	0.16953377	0.37475	0.18313989	0.41285	0.16953377	0.37475	0.18313989	0.41284	-10.294	0.75653	D	.	.	0.196	0.58523	B	.;.	.;.	3.244568	0.44300	21.9	0.98734699320473585	0.45408	0.10038	0.15652	N	AEFDBCI	0.163393	0.28967	N	-0.0104660157373476	0.41381	2.474145	-0.259295309931592	0.29453	1.650199	0.999708203174194	0.41986	0.646311	0.45356	0	0.633656	0.55848	0	0.645312	0.48771	0	0.542086	0.14980	0	.	.	3.39	3.39	0.37919	0.663000	0.24735	8.980000	0.78490	0.756000	0.94297	0.001000	0.13787	0.947000	0.28924	0.053000	0.15439	1.0:0.0:0.0:0.0	8.501	0.32317	958	0.09170	Immunoglobulin subtype;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2387.98	37	chr19	58352294	.	A	G	2387.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.280e-01;DP=870;ExcessHet=0.0000;FS=4.702;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=21.91;ReadPosRankSum=0.649;SOR=0.828	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:48,61:109:99:0|1:58352286_GCTC_G:2402,0,1831:58352286	20	0	1	0
chr20	1571818	1571818	C	T	exonic	SIRPB1	.	nonsynonymous SNV	SIRPB1:NM_006065:exon3:c.G653A:p.R218H,	.	.	410	1110	2	0	0	2	0.00090009	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09	T	0.009	B	0.008	B	0.257	N	1.000	N	0.855	L	4.08	T	-0.919	T	0.004	T	0.034	0.689	7.682	-1.19	-0.369	-0.397	10.217	0.032	.	0.0079	0.0071885	0.0023	0.0234	0.0016	0	0	0.0002	0.0022	6.056e-05	0.0021539	333	154602	rs61731659	0.0008	0.0008	0.0009	0.0007	0.0234	0.0008	0.0007	0.0221	0.0215	0.0234	0.0020	0	0	1.872e-05	0.0017	0.0001	0.0020	3.478e-05	0.0069	0.0069	0.0070	0.0067	0.0227	0.0065	0.0064	0.0215	0.0210	0.0227	0	0.0050	0	0	0	0.0102	0.0002	0.0071	0	0.262	0.22312	T	0.588	0.25827	T	0.009	0.15093	B	0.008	0.13708	B	0.257209	0.03685	N	1.514170	1	0.08975	N	1.715	0.44382	L	4.08	0.03408	T	-0.9	0.25770	N	0.164	0.17278	-0.9190	0.45689	T	0.004	0.01400	T	10	0.006548524	0.00148	T	.	.	.	0.032	0.07718	.	.	0.0297737177859	0.01360	0.3013604432488371	0.30049	0.16287014155	0.18381	0.303968250751	0.10996	T	0.008747	0.08010	T	-0.744169	0.00019	T	-0.824138	0.01371	T	0.00189268095128675	0.00019	T	0.0890911	0.00656	T	0.027449884	0.01938	0.035452522	0.02801	0.027449884	0.01937	0.035452522	0.02800	-10.538	0.77065	D	.	.	0.084	0.09530	B	.;.	.;.	1.116243	0.15017	11.52	0.95021799664598872	0.26006	0.00355	0.01825	N	AEFBI	0.032286	0.03615	N	-1.50514542159388	0.01816	0.07959083	-1.58371952321115	0.01755	0.07981776	0.120106336390504	0.16860	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	2.47	-1.19	0.09091	-0.169000	0.09900	-5.036000	0.01876	-1.981000	0.00462	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.3978:0.6022:0.0	10.217	0.42350	946	0.12043	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	0.02381	7060.98	38	chr20	1571818	.	C	T	7060.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.85;DP=1509;ExcessHet=0.0000;FS=3.235;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.87;MQRankSum=-4.300e-02;QD=12.11;ReadPosRankSum=0.305;SOR=0.487	GT:AD:DP:GQ:PL	0/1:297,286:583:99:7075,0,7028	20	0	1	0
chr20	1636340	1636340	G	T	exonic	SIRPG	.	nonsynonymous SNV	SIRPG:NM_001039508:exon3:c.C596A:p.T199K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06	T	0.001	B	0.001	B	0.078	N	1.000	N	0	N	6.25	T	-0.913	T	0.001	T	0.152	-0.698	0.979	-2.5	-0.244	-0.511	2.942	0.024	0.00142585498812	0.0015	0.00119808	0.0007	0.0068	0.0008	0	0	0.0001	0.0011	0	0.0007115	110	154602	rs142262583	0.0003	0.0003	0.0004	0.0003	0.0062	0.0003	0.0003	0.0055	0.0052	0.0062	0.0014	7.652e-05	0	0	0.0014	0.0001	0.0010	1.159e-05	0.0019	0.0019	0.0020	0.0019	0.0064	0.0018	0.0017	0.0058	0.0055	0.0064	0	0.0008	0.0003	0	0	0	0.0002	0.0009	0	0.835	0.02974	T	0.787	0.04234	T	0.001	0.07471	B	0.001	0.04355	B	0.077629	0.02319	N	1.994030	1	0.08975	N	-0.515	0.02571	N	6.25	0.00565	T	0.38	0.03579	N	0.078	0.06059	-0.9127	0.46518	T	0.001	0.00438	T	10	0.005250871	0.00115	T	0.001426	0.02113	T	0.024	0.04979	.	.	0.146414634003	0.14194	0.3521355004791907	0.35127	0.0242897630301	0.02464	0.256346166134	0.04465	T	0.004011	0.03423	T	-0.688432	0.00043	T	-0.757517	0.03202	T	0.000564949303687101	0.00005	T	0.0267973	0.00163	T	0.06786758	0.14735	0.062198788	0.12131	0.06786758	0.14735	0.062198788	0.12131	-5.431	0.46604	T	.	.	0.090	0.16582	B	.;.;.;.	.;.;.;.	0.187917	0.05743	2.189	0.46850361092896797	0.03784	0.00174	0.01026	N	AEFDBI	0.019191	0.00645	N	-1.25776783328362	0.04198	0.1890222	-1.34717514595267	0.03839	0.1799031	0.0407320937018434	0.14453	0.554377	0.28877	0	0.588066	0.40923	0	0.578056	0.29568	0	0.530356	0.10902	0	.	.	2.09	-2.5	0.06015	-1.080000	0.03517	-4.101000	0.02342	0.526000	0.24426	0.000000	0.06391	0.000000	0.08366	0.008000	0.08271	0.1845:0.0:0.3113:0.5043	2.942	0.05478	958	0.09170	.;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	0.02381	5251.98	40	chr20	1636340	.	G	T	5251.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.25;DP=3575;ExcessHet=0.0000;FS=3.198;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.07;ReadPosRankSum=0.340;SOR=0.841	GT:AD:DP:GQ:PL	0/1:233,202:435:99:5266,0,5885	20	0	1	0
chr20	2865406	2865406	T	C	exonic	VPS16	.	nonsynonymous SNV	VPS16:NM_080413:exon18:c.T1750C:p.W584R	.	.	429	1043	45	5	0	55	0.0256889	.	.	2736087	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.000	D	1.000	D	2.085	M	0.72	T	-0.565	T	0.217	T	0.963	3.752	19.05	5.64	2.145	5.676	13.810	0.688	.	0.0059	0.00359425	0.0068	0.0010	0.0062	0	0.0009	0.0081	0.0077	0.0115	0.0064488	997	154602	rs61729229	0.0057	0.0057	0.0054	0.0061	0.0276	0.0056	0.0056	0.0241	0.0227	0.0018	0.0074	0.0353	2.519e-05	0.0007	0.0276	0.0048	0.0083	0.0113	0.0053	0.0053	0.0052	0.0055	0.0109	0.0050	0.0049	0.0095	0.0090	0.0013	0.0044	0.0109	0.0409	0.0002	0.0006	0.0170	0.0053	0.0147	0.0083	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	2.215	0.62545	M	0.72	0.50976	T	-13.03	0.99887	D	0.778	0.77507	-0.5647	0.66223	T	0.217	0.57915	T	10	0.017725319	0.00380	T	.	.	.	0.688	0.88632	0.91	0.98190	0.727100791208	0.72467	0.896248764703781	0.89595	0.859348079951	0.68892	0.761442005634	0.76143	T	0.258767	0.62995	T	-0.0480361	0.44744	T	0.167618	0.81267	D	0.0540455955808897	0.06196	T	0.769823	0.39947	T	0.9643266	0.97712	0.9436374	0.98003	0.96964383	0.98227	0.9436374	0.98003	-9.093	0.73558	D	.	.	0.978	0.90664	P	.;.	.;.	5.227488	0.87742	29.3	0.99530452978001271	0.69839	0.93689	0.58911	D	AEFDBCI	0.769772	0.70493	D	0.736808766137726	0.82044	7.666397	0.720030717527245	0.83901	8.144543	0.999996139414198	0.74766	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.64	5.64	0.86480	5.669000	0.67750	7.938000	0.75364	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:0.0:1.0	13.810	0.62751	480	0.77422	Vps16, 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	0.02381	2309.98	33	chr20	2865406	.	T	C	2309.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.471e+00;DP=884;ExcessHet=0.0000;FS=1.258;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.20;ReadPosRankSum=1.22;SOR=0.574	GT:AD:DP:GQ:PL	0/1:78,97:175:99:2324,0,2270	20	0	1	0
chr20	10049705	10049705	C	T	exonic	ANKEF1	.	nonsynonymous SNV	ANKEF1:NM_198798:exon6:c.C1136T:p.A379V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.54	T	0.954	P	0.437	B	0.000	D	0.977	D	1.67	L	-0.15	T	-0.803	T	0.214	T	0.653	0.153	4.825	5.6	2.788	3.864	15.463	0.233	0.0507228094859	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.48	0.08237	T	1.0	0.01155	T	0.954	0.54400	P	0.437	0.45591	B	0.000426	0.44522	D	0.248859	0.976597	0.39290	D	1.79	0.46772	L	-0.15	0.65192	T	-0.22	0.10480	N	0.581	0.60241	-0.8033	0.54950	T	0.214	0.57560	T	10	0.6874958	0.71651	D	0.050723	0.64362	D	0.233	0.53499	0.619	0.75347	0.7457264781	0.74343	0.5138078995225664	0.51302	0.716833638651	0.62019	0.534552574158	0.43675	T	0.008667	0.07944	T	0.0446227	0.57649	T	-0.173679	0.57107	T	0.755097210407257	0.43572	D	0.757524	0.38090	T	0.07955835	0.18183	0.08178266	0.18613	0.07955835	0.18183	0.08178266	0.18613	-2.095	0.03562	T	.	.	0.28	0.51419	B	.;.	.;.	2.403080	0.30876	18.57	0.86540061954191816	0.16604	0.82540	0.41753	D	AEFDIJ	0.161342	0.28738	N	0.245821332840929	0.53431	3.512139	0.260173255748146	0.53229	3.492999	0.0330069554246567	0.14084	0.638212	0.43195	0	0.588015	0.36545	0	0.653264	0.51672	0	0.620846	0.47308	0	.	.	5.6	5.6	0.84997	3.887000	0.55910	5.937000	0.51416	0.599000	0.40250	0.993000	0.37899	1.000000	0.68203	0.135000	0.19760	0.0:0.862:0.138:0.0	15.463	0.75106	949	0.11373	Ankyrin repeat-containing domain;Ankyrin repeat-containing domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.125	207.1	75	chr20	10049705	.	C	T	207.1	.	AC=4;AF=0.125;AN=32;BaseQRankSum=-4.013e+00;DP=1811;ExcessHet=0.6776;FS=252.919;InbreedingCoeff=-0.1874;MLEAC=4;MLEAF=0.125;MQ=60.00;MQRankSum=0.00;QD=0.56;ReadPosRankSum=1.59;SOR=10.021	GT:AD:DP:GQ:PL	0/1:63,22:85:23:23,0,1497	12	0	4	5
chr20	16367717	16367717	G	A	exonic	KIF16B	.	nonsynonymous SNV	KIF16B:NM_001199866:exon23:c.C3608T:p.T1203I,	.	.	429	1085	5	3	0	11	0.00504356	.	.	3272418	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.02	D	0.013	B	0.015	B	0.208	N	0.999	N	.	.	-0.3	T	-0.859	T	0.192	T	0.034	1.929	12.41	4.19	1.257	1.006	9.354	0.131	0.0368852197753	0.0005	.	0.0004	0	0.0005	0	0	0.0006	0.0012	0.0003	0.0003363	52	154602	rs200790988	0.0004	0.0004	0.0004	0.0004	0.0123	0.0003	0.0003	0.0100	0.0092	0.0001	0.0005	0.0014	0	0	0.0123	0.0003	0.0007	0.0003	0.0004	0.0004	0.0004	0.0003	0.0006	0.0003	0.0003	0.0004	0.0004	9.62e-05	0	0.0003	0.0012	0	0	0.0102	0.0006	0.0005	0.0004	0.004	0.65419	D	0.016	0.60972	D	0.013	0.16609	B	0.015	0.17295	B	0.208494	0.16423	N	0.624961	1	0.21260	N	.	.	.	-0.3	0.67874	T	0.76	0.01978	N	0.068	0.04072	-0.8591	0.51327	T	0.192	0.54506	T	9	0.017835766	0.00383	T	0.036885	0.57273	D	0.131	0.35738	.	.	0.40722173914	0.40337	0.11140287648817028	0.11069	0.123377502336	0.13895	0.287554979324	0.08567	T	.	.	.	-0.463043	0.00941	T	-0.562357	0.16155	T	0.0449360836407612	0.04590	T	0.40256	0.10493	T	.	.	.	.	.	.	.	.	-4.514	0.31072	T	.	.	0.149	0.32874	B	.;.	.;.	2.084902	0.26522	17.15	0.99667190297099006	0.78330	0.12395	0.17242	N	AEFBI	0.075774	0.15228	N	-0.379598591114978	0.26197	1.427894	-0.304001719815444	0.27970	1.555867	0.103946326406357	0.16461	0.615465	0.37627	0	0.588015	0.36545	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	5.17	4.19	0.48645	1.082000	0.30415	3.365000	0.37889	0.665000	0.62972	0.002000	0.15269	0.916000	0.28226	0.935000	0.47363	0.076:0.1459:0.7781:0.0	9.354	0.37316	707	0.57054	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2087.98	33	chr20	16367717	.	G	A	2087.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.712;DP=813;ExcessHet=0.0000;FS=8.174;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.70;ReadPosRankSum=1.41;SOR=0.288	GT:AD:DP:GQ:PL	0/1:61,72:133:99:2102,0,1663	20	0	1	0
chr20	23084532	23084532	G	A	exonic	CD93	.	nonsynonymous SNV	CD93:NM_012072:exon1:c.C1661T:p.A554V,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.18	T	0.012	B	0.01	B	0.597	N	1.000	N	1.95	M	-1.39	T	-0.753	T	0.338	T	0.052	2.202	13.32	0.298	0.381	-0.108	1.805	0.096	0.0328306071309	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.368e-06	1.368e-06	0	2.751e-06	.	2.3e-07	9e-08	.	.	0	0	0	0	0	0	0	3.312e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.159	0.23813	T	0.013	0.63109	D	0.012	0.16265	B	0.01	0.14941	B	0.597284	0.10992	N	0.777454	1	0.08975	N	1.895	0.50365	L	-1.39	0.80387	T	-1.18	0.30140	N	0.049	0.02088	-0.7530	0.57778	T	0.338	0.70420	T	10	0.09066981	0.15815	T	0.032831	0.54547	D	0.096	0.27654	0.177	0.08379	0.978082763565	0.97784	0.3257225462102898	0.32485	0.0775942705913	0.08728	0.260270029306	0.04922	T	0.097479	0.40035	T	-0.195383	0.21471	T	-0.518431	0.20453	T	0.0644852533231434	0.07854	T	0.507849	0.16117	T	0.047988474	0.08294	0.05299423	0.08840	0.047988474	0.08294	0.05299423	0.08839	-4.282	0.27924	T	.	.	0.085	0.10159	B	.	.	0.326554	0.07010	3.565	0.97831960949540619	0.36266	0.07563	0.13575	N	AEFDBCI	0.099917	0.20102	N	-0.789851472135318	0.13574	0.6696703	-0.848112340886295	0.13332	0.6910847	0.999941565198824	0.47345	0.542737	0.22433	0	0.588066	0.40923	0	0.547309	0.15389	0	0.638787	0.57140	0	.	.	5.88	0.298	0.15015	-0.062000	0.11631	0.401000	0.18000	0.671000	0.69459	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.2785:0.246:0.3609:0.1146	1.805	0.02892	883	0.28872	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1953.98	46	chr20	23084532	.	G	A	1953.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.695;DP=1302;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.47;ReadPosRankSum=-2.270e-01;SOR=0.709	GT:AD:DP:GQ:PL	0/1:64,71:135:99:1968,0,1642	20	0	1	0
chr20	33083769	33083769	T	G	exonic	BPIFB4	.	nonsynonymous SNV	BPIFB4:NM_182519:exon3:c.T572G:p.L191R,	.	.	425	1050	47	0	0	47	0.021891	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	0.995	D	0.979	D	0.419	N	0.854	D	0.895	L	4.9	T	-0.788	T	0.011	T	0.659	2.110	13.01	3.33	1.516	3.953	8.272	0.134	.	0.0013	0.00459265	0.0047	0.0002	0.0009	0.0001	0	0.0022	0.0158	0.0237	0.0040297	623	154602	rs144272671	0.0027	0.0027	0.0020	0.0035	0.0228	0.0027	0.0026	0.0220	0.0216	0.0001	0.0008	0.0041	0.0001	0.0004	0.0223	0.0014	0.0036	0.0228	0.0017	0.0018	0.0012	0.0024	0.0227	0.0016	0.0015	0.0192	0.0179	0.0002	0	0.0008	0.0046	0.0006	0	0.0068	0.0016	0.0038	0.0227	0.0	0.91255	D	0.002	0.79402	D	0.995	0.67487	D	0.979	0.74454	D	0.419352	0.12891	N	0.672431	0.854418	0.35277	D	0.975	0.24501	L	4.9	0.01421	T	-0.7	0.19933	N	0.675	0.68255	-0.7879	0.55851	T	0.011	0.03903	T	10	0.005472988	0.00121	T	.	.	.	0.134	0.36365	.	.	0.437850553699	0.43404	0.6371477978752561	0.63648	0.427416486796	0.43086	0.647883415222	0.59685	T	0.00806	0.07418	T	-0.395404	0.02482	T	-0.323162	0.42226	T	0.0287560068156817	0.01800	T	0.717528	0.33029	T	0.3704387	0.58618	0.3850638	0.63432	0.3704387	0.58618	0.3850638	0.63432	-10.483	0.76749	D	.	.	0.627	0.69979	P	.	.	4.390380	0.67755	25.1	0.99700333214650194	0.80591	0.93071	0.57254	D	AEFDGBI	0.347638	0.44204	N	0.237604612350497	0.53029	3.473762	0.162506508952896	0.47808	3.005565	0.0105271983690197	0.12039	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	3.33	3.33	0.37245	1.103000	0.30674	7.682000	0.65344	0.644000	0.52426	0.073000	0.22155	1.000000	0.68203	0.776000	0.36750	0.0:0.0:0.0:1.0	8.272	0.31011	101	0.95833	Lipid-binding serum glycoprotein, N-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1077.98	38	chr20	33083769	.	T	G	1077.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.800e-01;DP=1241;ExcessHet=0.0000;FS=3.452;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.84;ReadPosRankSum=1.50;SOR=1.044	GT:AD:DP:GQ:PL	0/1:76,46:122:99:1092,0,2779	20	0	1	0
chr20	34852409	34852409	G	C	exonic	GGT7	.	nonsynonymous SNV	GGT7:NM_001351702:exon11:c.C1449G:p.D483E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	1.0	D	0.998	D	0.000	D	1.000	D	1.935	M	1.98	T	-1.040	T	0.128	T	0.791	4.250	22.1	6.17	2.941	5.778	13.996	0.296	0.0112495980913	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.422e-06	6.02e-05	1.362e-06	5.502e-06	2.988e-05	1e-06	7.3e-07	8.4e-07	5.7e-07	2.988e-05	0	0	0	0	0	3.599e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.089	0.32141	T	0.012	0.63918	D	0.994	0.66517	D	0.926	0.66095	D	0.000000	0.84330	D	0.000000	0.999841	0.49770	D	2.215	0.62545	M	1.98	0.21865	T	-1.73	0.41046	N	0.499	0.53181	-1.0404	0.17192	T	0.128	0.43585	T	10	0.5826987	0.65938	D	0.01125	0.28682	T	0.296	0.61616	0.689	0.82653	0.228066490088	0.22430	0.82941257752094	0.82899	0.68760950996	0.60391	0.738000631332	0.72679	T	0.103498	0.41220	T	0.0708259	0.60949	D	-0.13604	0.60460	T	0.885277701002196	0.53559	D	0.910309	0.68205	D	0.41792053	0.61953	0.41181666	0.65402	0.41792053	0.61953	0.41181666	0.65402	-4.579	0.31907	T	.	.	0.782	0.76474	P	.	.	5.638633	0.92727	33	0.99733629509333355	0.82975	0.97405	0.74540	D	AEFDBI	0.720442	0.67100	D	0.820974805350757	0.87399	9.204616	0.835720227276759	0.92153	11.26631	0.92021159446374	0.26625	0.732398	0.92422	0	0.709663	0.81188	0	0.743671	0.96076	0	0.567892	0.33627	0	.	.	6.17	6.17	0.99707	4.488000	0.60028	9.966000	0.82830	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0685:0.0:0.9315:0.0	13.996	0.63912	522	0.74218	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.4524	4553.08	146	chr20	34852409	.	G	C	4553.08	.	AC=19;AF=0.452;AN=42;BaseQRankSum=-3.218e+00;DP=3222;ExcessHet=36.0830;FS=276.126;InbreedingCoeff=-0.8285;MLEAC=19;MLEAF=0.452;MQ=60.00;MQRankSum=0.00;QD=1.76;ReadPosRankSum=0.755;SOR=12.688	GT:AD:DP:GQ:PL	0/1:119,53:182:99:175,0,1791	2	0	19	0
chr20	37047163	37047163	G	A	exonic	RBL1	.	nonsynonymous SNV	RBL1:NM_001323281:exon11:c.C214T:p.R72C	.	.	434	1087	1	0	0	1	0.00045977	.	.	2337967	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.08	T	0.014	B	0.013	B	0.052	N	0.566	N	1.525	L	-2.4	D	-0.022	T	0.534	D	0.488	2.021	12.72	3.86	1.332	2.692	8.963	0.425	0.0389746045312	.	.	0.0002	0	0.0015	0	0	3.004e-05	0	0	0.0001552	24	154602	rs527246162	5.791e-05	6.498e-05	6.996e-05	4.574e-05	0.0015	4.78e-05	4.4e-05	0.0012	0.0011	3.054e-05	0.0015	0	0	0	0	1.892e-05	1.67e-05	0	0.0001	0.0001	8.995e-05	0.0001	0.0011	7.574e-05	6.279e-05	0.0007	0.0006	0	0	0.0011	0	0	0	0	1.47e-05	0	0	0.132	0.27194	T	0.154	0.32249	T	0.014	0.16867	B	0.013	0.16460	B	0.052018	0.22931	N	0.491421	0.56597	0.31218	N	0.845	0.21182	L	-2.4	0.88455	D	-3.23	0.65056	D	0.274	0.31365	-0.0222	0.81793	T	0.534	0.82767	D	10	0.08883709	0.15333	T	0.038975	0.58541	D	0.425	0.73299	.	.	0.931706222846	0.93100	0.3176144089969143	0.31674	0.314280072756	0.33708	0.23681473732	0.02510	T	0.568866	0.85691	D	-0.228901	0.16794	T	-0.14211	0.59934	T	0.0580273264043531	0.06854	T	0.925008	0.72455	D	0.24423644	0.47370	0.142149	0.33828	0.24423644	0.47370	0.142149	0.33827	-6.513	0.54435	T	.	.	0.083	0.08997	B	.;.	.;.	2.969578	0.39573	21.0	0.98724901174794288	0.45259	0.87248	0.46730	D	AEFBI	0.156887	0.28231	N	-0.197241576967343	0.33247	1.884181	-0.09112808486581	0.35756	2.072439	0.0815135776790061	0.15875	0.732398	0.92422	0	0.743671	0.97443	0	0.608884	0.39905	0	0.683762	0.67416	0	.	.	4.84	3.86	0.43689	2.296000	0.43245	3.230000	0.36903	-0.123000	0.13640	1.000000	0.71638	1.000000	0.68203	0.881000	0.42162	0.0779:0.0:0.7678:0.1543	8.963	0.35021	581	0.69614	Retinoblastoma-associated protein, A-box|Retinoblastoma-associated protein, A-box;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	936.98	36	chr20	37047163	.	G	A	936.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.11;DP=773;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.01;ReadPosRankSum=-7.760e-01;SOR=0.641	GT:AD:DP:GQ:PL	0/1:41,37:78:99:951,0,989	20	0	1	0
chr20	38497424	38497424	A	G	exonic	RALGAPB	.	nonsynonymous SNV	RALGAPB:NM_001282917:exon4:c.A461G:p.E154G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3	T	0.59	P	0.275	B	0.000	D	1.000	D	1.555	L	-0.07	T	-0.786	T	0.212	T	0.631	3.317	17.15	5.32	2.004	9.089	15.319	0.253	0.0347406351716	0.0002	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs376920561	1.095e-05	1.095e-05	1.089e-05	1.1e-05	1.439e-05	6.48e-06	5.25e-06	8.52e-06	6.89e-06	0	0	0	0	0	0	1.439e-05	0	0	3.287e-05	3.284e-05	6.426e-05	0	5.882e-05	1.261e-05	7.98e-06	1.972e-05	1.125e-05	2.414e-05	0	0	0	0	0	0	5.882e-05	0	0	0.494	0.07895	T	0.411	0.14500	T	0.447	0.36006	B	0.168	0.35187	B	0.000002	0.62929	D	0.100373	1	0.81001	D	1.39	0.34934	L	-0.07	0.63738	T	-1.92	0.44657	N	0.674	0.68690	-0.7859	0.55967	T	0.212	0.57321	T	10	0.46004295	0.59228	T	0.034741	0.55878	D	0.253	0.56294	.	.	0.15499578495	0.15088	0.380808061166969	0.37995	1.03285227811	0.75478	0.6066583395	0.53844	T	0.054125	0.29635	T	0.0640633	0.60119	T	-0.130268	0.60949	T	0.77552193403244	0.44774	D	0.931907	0.74605	D	0.17901613	0.38952	0.15158099	0.35700	0.17901613	0.38951	0.15158099	0.35699	-9.597	0.71461	D	.	.	0.313	0.53989	B	.;.;.	.;.;.	4.538655	0.71321	25.7	0.99791897088501891	0.87750	0.99570	0.97553	D	AEFDBIJ	0.854658	0.77170	D	0.295297329439441	0.55911	3.755122	0.417932989800249	0.62682	4.487785	0.999999997091574	0.74766	0.719381	0.83141	0	0.724815	0.89359	0	0.724815	0.87919	0	0.733575	0.97253	0	.	.	5.32	5.32	0.75377	9.078000	0.93430	11.194000	0.88775	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	1.0:0.0:0.0:0.0	15.319	0.73814	855	0.34697	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.1667	341.57	131	chr20	38497424	.	A	G	341.57	.	AC=7;AF=0.167;AN=42;BaseQRankSum=-3.982e+00;DP=1625;ExcessHet=2.5830;FS=165.447;InbreedingCoeff=-0.2003;MLEAC=7;MLEAF=0.167;MQ=60.00;MQRankSum=0.00;QD=0.42;ReadPosRankSum=-1.800e-01;SOR=9.953	GT:AD:DP:GQ:PL	0/1:94,43:137:59:59,0,1433	14	0	7	0
chr20	54158096	54158096	A	G	exonic	CYP24A1	.	nonsynonymous SNV	CYP24A1:NM_000782:exon9:c.T1226C:p.L409S	Hypercalcemia, infantile, 1, Autosomal recessive	YES	0	1521	1	0	0	1	0.000328623	.	.	38635	Hypercalcemia,_infantile,_1|not_provided|CYP24A1-related_disorder	MONDO:MONDO:0020739,MedGen:C4310232,OMIM:143880,Orphanet:300547|MedGen:C3661900|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.000	D	1.000	D	2.825	M	4.76	T	0.582	D	0.706	D	0.894	4.182	21.7	5.3	2.125	8.790	14.728	0.521	0.272288493536	0.0013	0.000199681	0.0007	0.0004	0.0003	0	0	0.0012	0	6.075e-05	0.000815	126	154602	rs6068812	0.0018	0.0018	0.0019	0.0018	0.0023	0.0018	0.0018	0.0022	0.0022	0.0004	0.0005	0.0005	0	0	0.0003	0.0023	0.0011	8.115e-05	0.0008	0.0008	0.0008	0.0007	0.0014	0.0007	0.0006	0.0012	0.0011	0.0004	0	0.0003	0.0006	0	0	0	0.0014	0.0005	0	0.001	0.78490	D	0.002	0.79402	D	1.0	0.90584	D	0.999	0.92359	D	0.000024	0.55875	D	0.066212	0.999884	0.50402	D	2.125	0.59049	M	-0.33	0.81478	T	-3.74	0.71042	D	0.928	0.94196	0.582	0.91667	D	0.706	0.89874	D	10	0.4714062	0.59884	T	0.272288	0.89925	D	0.521	0.79643	.	.	0.972374892747	0.97207	0.9550790508331022	0.95492	0.443632335628	0.44285	0.619048416615	0.55595	T	0.787076	0.94432	D	0.0523363	0.58644	T	0.29841	0.88124	D	0.103153262518355	0.12700	T	0.893711	0.63166	D	0.9299575	0.94232	0.90004873	0.94979	0.93790287	0.95034	0.8652603	0.92540	-11.487	0.82262	D	.	.	0.902	0.86166	P	.;.;.	.;.;.	5.185675	0.86954	29.1	0.99871574663690699	0.94902	0.98227	0.80721	D	AEFDBCI	0.816900	0.73851	D	0.862258025404156	0.89795	10.12064	0.802232955726701	0.89948	10.18998	0.999999999999684	0.74766	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.3	5.3	0.74745	8.617000	0.90710	11.258000	0.90976	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.985000	0.61073	1.0:0.0:0.0:0.0	14.728	0.68975	959	0.08690	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	974.98	42	chr20	54158096	.	A	G	974.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.533;DP=858;ExcessHet=0.0000;FS=2.829;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.21;ReadPosRankSum=1.26;SOR=0.440	GT:AD:DP:GQ:PL	0/1:45,42:87:99:989,0,1074	20	0	1	0
chr20	57613163	57613163	C	T	exonic	ZBP1	.	nonsynonymous SNV	ZBP1:NM_001160418:exon4:c.G445A:p.G149S	.	.	424	1043	53	2	0	57	0.0265982	.	.	705567	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.05	D	0.963	D	0.379	B	0.001	D	1.000	N	0.75	N	2.51	T	-1.042	T	0.015	T	0.14	2.313	13.69	1.1	0.329	0.347	3.844	0.086	.	0.0065	0.00838658	0.0087	0.0016	0.0057	0.0003	0.0003	0.0094	0.0156	0.0200	0.0082858	1281	154602	rs41304401	0.0089	0.0089	0.0084	0.0094	0.0369	0.0087	0.0087	0.0329	0.0313	0.0019	0.0070	0.0114	0	0.0010	0.0369	0.0089	0.0100	0.0181	0.0072	0.0072	0.0072	0.0072	0.0149	0.0068	0.0067	0.0133	0.0127	0.0016	0.0022	0.0149	0.0104	0.0002	0.0004	0.0340	0.0095	0.0156	0.0135	0.05	0.40573	D	0.137	0.35455	T	0.938	0.52538	P	0.121	0.32300	B	0.000732	0.42129	D	0.000000	1	0.08975	N	1.115	0.28702	L	2.51	0.19311	T	-3.84	0.75058	D	0.15	0.16725	-1.0423	0.16621	T	0.015	0.05946	T	10	0.006138891	0.00138	T	.	.	.	0.086	0.25016	.	.	0.0954503805726	0.09146	0.2905044889027909	0.28963	0.0492264015574	0.05384	0.260742336512	0.04980	T	0.041566	0.25900	T	-0.611551	0.00124	T	-0.636291	0.09943	T	0.0344413448309581	0.02713	T	0.463454	0.13490	T	0.10971222	0.25937	0.10917021	0.26306	0.10971222	0.25937	0.10917021	0.26306	-3.215	0.18016	T	.	.	0.086	0.11558	B	.;.;.	.;.;.	1.213435	0.16064	12.29	0.98058157835877602	0.37921	0.09510	0.15250	N	AEFGBI	0.099376	0.20005	N	-0.780357890943715	0.13821	0.6837764	-0.914035834607524	0.11763	0.6012403	0.00280640418808576	0.09719	0.706298	0.61202	0	0.709663	0.81188	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	3.13	1.1	0.19578	0.353000	0.19868	0.577000	0.19666	-0.832000	0.02862	0.253000	0.24879	0.061000	0.22037	0.000000	0.00833	0.235:0.6344:0.0:0.1306	3.844	0.08435	812	0.42537	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	2589.98	34	chr20	57613163	.	C	T	2589.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.31;DP=887;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.89;ReadPosRankSum=0.398;SOR=0.726	GT:AD:DP:GQ:PL	0/1:97,104:201:99:2604,0,2289	20	0	1	0
chr20	62416867	62416867	C	T	exonic	RBBP8NL	.	nonsynonymous SNV	RBBP8NL:NM_080833:exon5:c.G206A:p.R69Q,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	1.0	D	0.999	D	0.000	D	0.997	D	2.515	M	0.51	T	-0.205	T	0.366	T	0.905	5.572	35	4.46	2.031	5.419	16.725	0.468	0.161744477343	.	.	8.097e-05	0	0	0	0	0.0002	0	0	1.94e-05	3	154602	rs759817680	1.777e-05	2.257e-05	2.248e-05	1.295e-05	5.424e-05	1.22e-05	1.031e-05	8.99e-06	7.07e-06	0	2.654e-05	0.0001	5.424e-05	0	0	1.475e-05	1.715e-05	2.49e-05	1.973e-05	1.97e-05	2.572e-05	1.346e-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	0.002	0.72154	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.000004	0.62929	D	0.055994	0.997164	0.43677	D	2.865	0.83145	M	0.51	0.55439	T	-3.96	0.73579	D	0.825	0.82057	-0.2051	0.77538	T	0.366	0.72620	T	10	0.85362244	0.84550	D	0.161744	0.84147	D	0.468	0.76289	0.68	0.81788	0.771215900726	0.76911	0.2456342584558214	0.24477	0.390486967519	0.40258	0.596028447151	0.52344	T	0.291854	0.66459	T	0.0978196	0.64057	D	0.167163	0.81239	D	0.729387127584773	0.42178	D	0.988001	0.95955	D	0.7240099	0.79385	0.66375524	0.80289	0.7240099	0.79387	0.66375524	0.80290	-11.156	0.80506	D	.	.	0.505	0.64830	A	.	.	5.423347	0.90727	31	0.99945516975997983	0.99886	0.91093	0.52846	D	AEFDBI	0.726810	0.67535	D	0.694875363622727	0.79298	7.047962	0.622845717947786	0.76601	6.52147	0.999999996191963	0.74766	0.580535	0.33130	0	0.547309	0.14657	0	0.576033	0.28219	0	0.562822	0.20929	0	.	.	4.46	4.46	0.53567	5.514000	0.66760	7.414000	0.58665	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.964000	0.52637	0.0:1.0:0.0:0.0	16.725	0.85279	814	0.42100	DNA endonuclease Ctp1, N-terminal	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	776.98	33	chr20	62416867	.	C	T	776.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.79;DP=762;ExcessHet=0.0000;FS=0.970;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.77;ReadPosRankSum=1.29;SOR=0.527	GT:AD:DP:GQ:PL	0/1:35,31:66:99:791,0,768	20	0	1	0
chr20	62813277	62813277	A	0	exonic	OGFR	.	.	.	.	.	523	886	20	13	80	126	0.0253025	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2368	2213.86	12	chr20	62813277	.	A	*,G	2213.86	.	AC=3,6;AF=0.079,0.158;AN=38;BaseQRankSum=-1.555e+00;DP=527;ExcessHet=0.1022;FS=5.579;InbreedingCoeff=0.2459;MLEAC=2,7;MLEAF=0.053,0.184;MQ=54.26;MQRankSum=0.052;QD=19.25;ReadPosRankSum=-3.440e-01;SOR=1.371	GT:AD:DP:GQ:PGT:PID:PL:PS	2|2:1,0,28:29:41:1|1:62813277_A_G:1029,1032,1074,41,83,0:62813277	12	1	1	2
chr20	62813313	62813313	G	0	exonic	OGFR	.	.	.	.	.	901	501	16	13	91	133	0.0402299	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4091	2484.09	12	chr20	62813313	.	G	A,*	2484.09	.	AC=6,3;AF=0.273,0.136;AN=22;BaseQRankSum=1.18;DP=455;ExcessHet=0.3267;FS=2.908;InbreedingCoeff=0.1128;MLEAC=9,3;MLEAF=0.409,0.136;MQ=53.32;MQRankSum=-1.420e-01;QD=23.00;ReadPosRankSum=0.217;SOR=1.040	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:1,25,0:26:33:1|1:62813277_A_G:1012,33,0,1015,75,1057:62813277	4	1	4	10
chr20	62880836	62880836	T	A	exonic	DIDO1	.	nonsynonymous SNV	DIDO1:NM_001193369:exon16:c.A5120T:p.H1707L	.	.	427	1092	3	0	0	3	0.00137174	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.23	T	0.0	B	0.001	B	0.862	N	0.848	D	0.55	N	3.16	T	-1.002	T	0.015	T	0.144	0.804	8.226	-2.12	-0.718	-0.241	7.493	0.021	0.0227488437212	0.0006	0.000599042	0.0007	0.0002	0.0004	0	0	0.0010	0.0011	0.0004	0.0005045	78	154602	rs143370037	0.0004	0.0004	0.0004	0.0005	0.0052	0.0004	0.0004	0.0037	0.0032	0.0002	0.0006	0.0085	0	5.755e-05	0.0052	0.0002	0.0014	0.0003	0.0005	0.0005	0.0005	0.0006	0.0008	0.0004	0.0004	0.0005	0.0004	0.0002	0	0.0008	0.0069	0	0.0002	0.0068	0.0004	0.0014	0.0006	0.304	0.14303	T	0.646	0.06836	T	0.0	0.02946	B	0.001	0.04355	B	0.861985	0.07122	N	1.089380	1	0.08975	N	0.755	0.19153	N	3.16	0.07711	T	-1.61	0.38734	N	0.066	0.06720	-1.0015	0.29488	T	0.015	0.05801	T	10	0.004203081	0.00084	T	0.022749	0.45666	T	0.021	0.04004	.	.	0.128874641272	0.12493	0.237234450732513	0.23638	0.456234296381	0.45275	0.329629123211	0.14878	T	0.153572	0.49448	T	-0.583805	0.00183	T	-0.707622	0.05419	T	0.00177285083376129	0.00018	T	0.286971	0.05151	T	0.070788905	0.15623	0.041441638	0.04711	0.070788905	0.15622	0.041441638	0.04711	-2.477	0.05626	T	.	.	0.074	0.05535	B	.;.	.;.	0.058601	0.04700	1.340	0.36942450541150562	0.02405	0.15047	0.18717	N	AEFDBCI	0.053649	0.09685	N	-1.51945011247531	0.01721	0.07536517	-1.53846381545006	0.02056	0.09401413	0.573955209775106	0.21515	0.651	0.46895	0	0.708844	0.79440	0	0.723109	0.80598	0	0.699875	0.68795	0	.	.	5.21	-2.12	0.06766	-0.052000	0.11821	-0.725000	0.07688	-0.109000	0.15193	0.019000	0.19563	0.000000	0.08366	0.039000	0.14166	0.215:0.0:0.3268:0.4582	7.493	0.26642	814	0.42100	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1701.98	40	chr20	62880836	.	T	A	1701.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.32;DP=890;ExcessHet=0.0000;FS=3.319;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.30;ReadPosRankSum=2.54;SOR=0.996	GT:AD:DP:GQ:PL	0/1:56,63:119:99:1716,0,1517	20	0	1	0
chr20	63561446	63561446	C	T	exonic	HELZ2	.	nonsynonymous SNV	HELZ2:NM_033405:exon8:c.G5150A:p.R1717Q	.	.	425	1087	10	0	0	10	0.00457875	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.37	T	1.0	D	0.991	D	0.766	N	0.971	D	1.19	L	-1.54	D	-0.293	T	0.536	D	0.363	3.702	18.80	4.46	2.196	2.834	11.503	0.333	0.0711896520816	7.7e-05	.	0.0003	9.899e-05	0.0004	0	0	6.14e-05	0.0012	0.0015	0.0002264	35	154602	rs377628074	0.0002	0.0002	8.186e-05	0.0002	0.0028	0.0001	0.0001	0.0018	0.0017	0	0.0001	0	0	0	0.0028	2.07e-05	0.0003	0.0020	5.253e-05	5.249e-05	3.855e-05	6.714e-05	0.0012	2.556e-05	1.829e-05	0.0005	0.0004	2.405e-05	0	0	0	0	0	0	1.471e-05	0	0.0012	0.082	0.33254	T	0.035	0.52389	D	0.999	0.90584	D	0.966	0.79672	D	0.766281	0.09582	N	0.857968	0.971044	0.38842	D	1.325	0.33218	L	-1.54	0.81640	D	-2.26	0.53258	N	0.464	0.54932	-0.2935	0.75167	T	0.536	0.82854	D	10	0.070828885	0.10358	T	0.07119	0.71204	D	0.333	0.65522	.	.	0.671013503938	0.66823	0.5252025767368174	0.52444	0.773432479962	0.64893	0.533091664314	0.43470	T	0.227268	0.59251	T	-0.291813	0.09455	T	-0.216573	0.53067	T	0.0717606276334605	0.08896	T	0.89721	0.64041	D	0.26178193	0.49237	0.13710324	0.32781	0.26178193	0.49237	0.13710324	0.32780	-4.659	0.32904	T	.	.	0.127	0.28750	B	.;.	.;.	4.682045	0.74937	26.2	0.99938172093669664	0.99698	0.96027	0.67203	D	AEFDGBI	0.270643	0.38666	N	0.334820769620035	0.57943	3.963954	0.305031323910823	0.55835	3.746296	0.917380342497508	0.26540	0.634777	0.41761	0	0.643519	0.57511	0	0.723109	0.80598	0	0.635551	0.53088	0	.	.	4.46	4.46	0.53567	1.166000	0.31444	3.915000	0.40434	0.549000	0.26987	0.656000	0.28225	0.999000	0.35428	0.952000	0.50033	0.3141:0.6859:0.0:0.0	11.503	0.49697	.	.	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1790.98	40	chr20	63561446	.	C	T	1790.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.36;DP=997;ExcessHet=0.0000;FS=4.078;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.27;ReadPosRankSum=1.17;SOR=0.600	GT:AD:DP:GQ:PL	0/1:68,67:135:99:1805,0,1750	20	0	1	0
chr20	64208256	64208256	G	A	exonic	MYT1	.	nonsynonymous SNV	MYT1:NM_004535:exon7:c.G1060A:p.E354K,	.	.	408	1112	2	0	0	2	0.000898473	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.11	T	0.028	B	0.017	B	0.027	N	1.000	D	1.5	L	4.45	T	-0.913	T	0.011	T	0.198	0.674	7.609	4.46	2.051	4.457	17.157	0.081	0.0327963943137	.	.	8.273e-06	0	0	0	0	1.505e-05	0	0	1.29e-05	2	154602	rs779840595	1.026e-05	1.094e-05	5.445e-06	1.513e-05	0.0002	6.16e-06	4.89e-06	3.85e-06	2.76e-06	0	0	0	2.519e-05	0	0.0002	8.093e-06	3.312e-05	2.319e-05	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	0.028	0.46129	D	0.054	0.47097	T	0.028	0.19712	B	0.017	0.18140	B	0.026876	0.25848	N	0.397297	0.864334	0.81001	D	0.805	0.20218	L	4.45	0.02121	T	-2.35	0.51968	N	0.084	0.07398	-0.9132	0.46454	T	0.011	0.03903	T	10	0.12550652	0.23851	T	0.032796	0.54525	D	0.081	0.23632	0.259	0.20159	0.082315109003	0.07666	.	.	0.467427056374	0.46123	0.460923165083	0.33437	T	0.286563	0.65935	T	-0.227638	0.16963	T	-0.564762	0.15932	T	0.458823356169379	0.31122	T	0.910209	0.68156	D	0.20642048	0.42816	0.18216315	0.41126	0.20642048	0.42816	0.18216315	0.41125	-11.035	0.81548	D	.	.	0.102	0.17869	B	.;.	.;.	3.261707	0.44608	22.0	0.94462858271204575	0.24903	0.90849	0.52377	D	AEFGBI	0.370306	0.45672	N	-0.212471947668025	0.32621	1.841704	-0.126528919279189	0.34324	1.973146	0.996150939703488	0.34559	0.554377	0.28877	0	0.588066	0.40923	0	0.576033	0.28219	0	0.562822	0.20929	0	.	.	4.46	4.46	0.53567	4.607000	0.60840	9.626000	0.81116	0.660000	0.55035	1.000000	0.71638	1.000000	0.68203	0.558000	0.30364	0.0:0.0:1.0:0.0	17.157	0.86674	.	.	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	3469.98	67	chr20	64208256	.	G	A	3469.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.99;DP=1267;ExcessHet=0.0000;FS=3.158;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.64;ReadPosRankSum=-1.070e+00;SOR=0.883	GT:AD:DP:GQ:PL	0/1:162,136:298:99:3484,0,3974	20	0	1	0
chr21	30337413	30337413	G	A	exonic	KRTAP27-1	.	stopgain	KRTAP27-1:NM_001077711:exon1:c.C256T:p.Q86X,	.	.	430	1072	20	0	0	20	0.00924214	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	T	.	.	.	.	0.631	N	1.000	D	.	.	.	.	.	.	.	.	.	2.624	14.73	3.22	1.295	2.129	9.238	.	.	0.0015	0.000998403	0.0015	0.0003	0.0029	0	0.0002	0.0019	0.0022	0.0013	0.0015718	243	154602	rs144648271	0.0017	0.0017	0.0017	0.0017	0.0076	0.0016	0.0016	0.0058	0.0052	0.0002	0.0022	0.0003	0	0.0004	0.0076	0.0018	0.0016	0.0017	0.0017	0.0017	0.0017	0.0018	0.0058	0.0015	0.0015	0.0048	0.0044	0.0003	0.0121	0.0058	0	0	0.0002	0	0.0020	0.0028	0.0008	.	.	.	.	.	.	.	.	.	.	.	.	0.631278	0.10685	N	0.752745	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.22	0.24634	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.0220029	0.48567	T	0.189142	0.82521	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerant	High	7.754343	0.96829	36	0.99618946326035362	0.75293	0.21730	0.21504	N	AEFBIJ	0.026725	0.02056	N	0.433101555693606	0.63252	4.555354	0.103250409020266	0.44715	2.747879	0.989846802264893	0.31953	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.12	3.22	0.36041	2.460000	0.44689	5.243000	0.48069	0.618000	0.50648	0.386000	0.26055	0.999000	0.35428	0.142000	0.20019	0.0:0.0:0.7842:0.2158	9.238	0.36640	214	0.91692	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1308.98	38	chr21	30337413	.	G	A	1308.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.240e-01;DP=867;ExcessHet=0.0000;FS=1.444;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.73;ReadPosRankSum=0.360;SOR=0.833	GT:AD:DP:GQ:PL	0/1:70,52:122:99:1323,0,1921	20	0	1	0
chr21	39232467	39232467	G	T	exonic	BRWD1	.	nonsynonymous SNV	BRWD1:NM_018963:exon24:c.C2798A:p.A933E	.	.	420	1100	2	0	0	2	0.000908265	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.62	T	0.004	B	0.005	B	0.485	N	0.665	N	2.015	M	0.65	T	-0.953	T	0.119	T	0.178	0.093	4.501	0.462	-0.143	0.069	3.886	0.051	0.0175232833294	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.337	0.12837	T	0.862	0.03390	T	0.004	0.12183	B	0.003	0.11217	B	0.484959	0.12123	N	0.769983	0.999747	0.20516	N	0.895	0.22405	L	0.55	0.54728	T	-0.43	0.18248	N	0.122	0.11340	-0.9530	0.40450	T	0.119	0.41604	T	10	0.024886996	0.00701	T	0.017523	0.39251	T	0.051	0.14325	0.172	0.07774	0.176862962021	0.17281	0.4969450474856942	0.49615	0.614016240804	0.55942	0.344553947449	0.17117	T	0.045748	0.27218	T	-0.197009	0.21236	T	-0.520766	0.20217	T	0.0965607911348343	0.11974	T	0.517648	0.16760	T	0.06642313	0.14291	0.058735628	0.10903	0.06642313	0.14290	0.058735628	0.10902	-5.956	0.47550	T	.	.	0.079	0.07365	B	.;.;.	.;.;.	0.697179	0.10657	7.357	0.51328397618096377	0.04543	0.23872	0.22215	N	AEFBI	0.124172	0.24010	N	-1.1962747599345	0.05056	0.2296224	-1.19046701958082	0.06069	0.290983	0.736348009664121	0.23137	0.651	0.46895	0	0.708844	0.79440	0	0.608884	0.39905	0	0.683762	0.67416	0	.	.	5.65	0.462	0.15906	0.125000	0.15577	1.243000	0.25119	-0.180000	0.10397	0.011000	0.18532	0.001000	0.17328	0.970000	0.54328	0.1864:0.0961:0.5234:0.1941	3.886	0.08605	964	0.07719	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1023.98	33	chr21	39232467	.	G	T	1023.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-8.200e-02;DP=773;ExcessHet=0.0000;FS=3.202;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.65;ReadPosRankSum=-1.342e+00;SOR=1.090	GT:AD:DP:GQ:PL	0/1:36,39:75:99:1038,0,927	20	0	1	0
chr21	42137640	42137722	AGGTGGGTGCGGAGTGGGGTGGGAGGTGCAGGCTGACAGGAAGGTGGGTGTGGAGTGGGGTGGGAGGTGCAGGCTGACAGGAG	0	splicing	UMODL1	.	.	.	.	.	432	559	239	60	232	591	0.24306	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4167	10995.83	42	chr21	42137640	.	AGGTGGGTGCGGAGTGGGGTGGGAGGTGCAGGCTGACAGGAAGGTGGGTGTGGAGTGGGGTGGGAGGTGCAGGCTGACAGGAG	A,*	10995.83	.	AC=12,6;AF=0.333,0.167;AN=36;BaseQRankSum=0.289;DP=1413;ExcessHet=0.4630;FS=5.341;InbreedingCoeff=0.1091;MLEAC=13,7;MLEAF=0.361,0.194;MQ=59.77;MQRankSum=-6.950e-01;QD=17.79;ReadPosRankSum=0.619;SOR=0.413	GT:AD:DP:GQ:PL	0/1:14,25,0:39:99:926,0,432,968,535,1503	5	1	7	3
chr21	43690435	43690435	G	A	exonic	RRP1B	.	nonsynonymous SNV	RRP1B:NM_015056:exon14:c.G2014A:p.V672I,	.	.	416	1080	24	2	0	28	0.0127971	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.672	P	0.041	B	0.517	N	1.000	N	1.39	L	5.35	T	-0.902	T	0.004	T	0.034	0.126	4.678	2.15	0.230	-0.519	4.223	0.069	0.00795754443368	0.0002	0.00159744	0.0015	9.638e-05	0.0005	0	0	0.0005	0.0033	0.0085	0.0012354	191	154602	rs142326213	0.0007	0.0007	0.0005	0.0009	0.0082	0.0007	0.0007	0.0077	0.0075	8.962e-05	0.0005	0.0013	5.038e-05	5.617e-05	0.0060	0.0002	0.0007	0.0082	0.0004	0.0004	0.0003	0.0005	0.0066	0.0003	0.0003	0.0048	0.0042	0.0001	0	0.0001	0.0003	0.0002	0.0002	0.0034	0.0003	0	0.0066	.	.	.	0.753	0.04754	T	0.672	0.41203	P	0.041	0.23986	B	0.516562	0.05178	N	1.270780	1	0.08975	N	1.59	0.40313	L	5.35	0.01058	T	-0.18	0.09796	N	0.045	0.01740	-0.9017	0.47814	T	0.004	0.01226	T	10	0.0057523847	0.00128	T	0.007958	0.21110	T	0.069	0.20116	.	.	0.265929055128	0.26215	0.06834235276416198	0.06772	0.279175888564	0.30399	0.305982500315	0.11300	T	0.012483	0.10966	T	-0.722659	0.00027	T	-0.804428	0.01794	T	0.00880056850071434	0.00109	T	0.29847	0.05558	T	0.04093284	0.05935	0.030841341	0.01592	0.04093284	0.05935	0.030841341	0.01592	-5.674	0.43461	T	.	.	0.077	0.06387	B	.	.	0.313189	0.06882	3.417	0.24843930670115211	0.01118	0.05291	0.11136	N	AEFDGBCI	0.038740	0.05526	N	-0.618019420490096	0.18404	0.9551687	-0.71542264073988	0.16576	0.8775833	0.999999830660732	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.01	2.15	0.26590	-0.375000	0.07532	-4.008000	0.02397	0.676000	0.76740	0.000000	0.06391	0.000000	0.08366	0.030000	0.13115	0.0847:0.3064:0.4624:0.1466	4.223	0.10021	976	0.04745	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	4316.11	39	chr21	43690435	.	G	A	4316.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.945;DP=1047;ExcessHet=0.1072;FS=4.203;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=11.86;ReadPosRankSum=0.614;SOR=0.516	GT:AD:DP:GQ:PL	0/1:100,88:188:99:2215,0,2522	19	0	2	0
chr21	44558616	44558616	T	0	exonic	KRTAP10-3	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.9048	99920.15	123	chr21	44558616	.	T	G,*	99920.15	.	AC=38,1;AF=0.905,0.024;AN=42;BaseQRankSum=0.718;DP=2610;ExcessHet=0.3300;FS=0.992;InbreedingCoeff=-0.0769;MLEAC=38,1;MLEAF=0.905,0.024;MQ=59.23;MQRankSum=-1.477e+00;QD=30.87;ReadPosRankSum=0.806;SOR=0.805	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,116,0:116:99:1|1:44558616_T_G:5159,349,0,5159,349,5159:44558616	0	17	3	0
chr21	44558620	44558620	G	0	exonic	KRTAP10-3	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.9048	97991.64	126	chr21	44558620	.	G	A,*	97991.64	.	AC=38,1;AF=0.905,0.024;AN=42;BaseQRankSum=1.53;DP=2612;ExcessHet=0.3300;FS=0.000;InbreedingCoeff=-0.0769;MLEAC=38,1;MLEAF=0.905,0.024;MQ=59.24;MQRankSum=-8.900e-01;QD=32.40;ReadPosRankSum=0.868;SOR=0.790	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,116,0:116:99:1|1:44558616_T_G:5165,349,0,5165,349,5165:44558616	0	17	3	0
chr21	44592106	44592106	A	0	exonic	KRTAP10-6	.	.	.	.	.	444	939	103	35	1	174	0.0843491	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1905	4312.68	36	chr21	44592106	.	A	G,*	4312.68	.	AC=8,1;AF=0.190,0.024;AN=42;BaseQRankSum=7.63;DP=2486;ExcessHet=0.9430;FS=27.882;InbreedingCoeff=0.0102;MLEAC=8,1;MLEAF=0.190,0.024;MQ=47.62;MQRankSum=-8.105e+00;QD=2.89;ReadPosRankSum=-1.139e+00;SOR=2.591	GT:AD:DP:GQ:PL	0/1:155,17,0:172:29:29,0,3938,549,4346,5988	13	0	7	0
chr21	44627577	44627577	T	C	exonic	KRTAP10-9	.	nonsynonymous SNV	KRTAP10-9:NM_198690:exon1:c.T406C:p.C136R,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.997	D	0.943	D	.	.	1.000	D	3.555	H	4.15	T	-1.198	T	0.029	T	0.436	0.422	6.294	2.28	0.332	1.741	7.337	0.175	0.0271816327773	0.0035	0.00159744	0.0007	0.0082	0.0004	0	0	1.498e-05	0	6.057e-05	0.0006986	108	154602	rs201991753	0.0003	0.0003	0.0003	0.0003	0.0106	0.0003	0.0003	0.0097	0.0093	0.0106	0.0007	0	0	0	0.0012	3.598e-06	0.0010	0.0001	0.0029	0.0029	0.0031	0.0027	0.0099	0.0027	0.0026	0.0091	0.0088	0.0099	0	0.0012	0	0	0	0	7.357e-05	0.0014	0.0002	0.0	0.91255	D	0.02	0.58613	D	0.997	0.70673	D	0.943	0.67921	D	.	.	.	.	1	0.81001	D	4.775	0.99607	H	4.15	0.02815	T	-4.8	0.80682	D	0.226	0.25377	-1.1982	0.00163	T	0.029	0.12585	T	8	0.007601559	0.00173	T	0.027182	0.50018	D	0.175	0.44197	.	.	0.298056030225	0.29408	0.18217068023925134	0.18136	.	.	0.283589184284	0.07998	T	0.13294	0.46332	T	-0.449432	0.01138	T	-0.410963	0.32113	T	0.103582006594351	0.12746	T	0.735426	0.35200	T	0.49034446	0.66523	0.46941733	0.69228	0.49034446	0.66524	0.46941733	0.69229	-9.217	0.69082	D	.	.	0.137	0.29914	B	.	.	2.002599	0.25446	16.76	0.52548338381488846	0.04769	0.42595	0.26913	N	AEFBCI	0.100907	0.20280	N	-0.0580234335926824	0.39243	2.311188	-0.310634223626232	0.27754	1.542322	4.22469814707272E-4	0.06935	0.487112	0.14033	0	0.573888	0.26702	0	0.491513	0.07944	0	0.613276	0.41899	0	.	.	3.49	2.28	0.27583	0.450000	0.21475	-0.204000	0.10916	-0.212000	0.08331	0.021000	0.19753	0.000000	0.08366	0.003000	0.05239	0.1966:0.0:0.0:0.8034	7.337	0.25788	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	0.02381	5317.98	367	chr21	44627577	.	T	C	5317.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.030e+00;DP=8382;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.06;ReadPosRankSum=0.798;SOR=0.685	GT:AD:DP:GQ:PL	0/1:221,220:441:99:5332,0,6080	20	0	1	0
chr21	44637708	44637723	TGTCTGCTGTGTGCCC	0	exonic	KRTAP10-10	.	.	.	.	.	451	251	178	15	627	835	0.292958	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.575	11119.76	311	chr21	44637708	.	TGTCTGCTGTGTGCCC	T,*	11119.76	.	AC=2,21;AF=0.050,0.525;AN=40;DP=7560;ExcessHet=2.9564;FS=0.000;InbreedingCoeff=-0.1019;MLEAC=2,22;MLEAF=0.050,0.550;MQ=59.91;QD=2.06;SOR=0.752	GT:AD:DP:GQ:PL	0/2:225,0,158:383:99:5859,6653,16505,0,9406,8799	3	1	0	1
chr21	46112374	46112374	G	A	exonic	COL6A2	.	nonsynonymous SNV	COL6A2:NM_001849:exon3:c.G511A:p.G171R	Bethlem myopathy 1, Autosomal recessive, Autosomal dominant;Ullrich congenital muscular dystrophy 1, Autosomal recessive, Autosomal dominant	.	1	1516	4	1	0	6	0.00197498	.	.	266421	COL6A2-related_disorder|Tip-toe_gait|not_provided|Bethlem_myopathy_1A|Myosclerosis|Collagen_6-related_myopathy	.|Human_Phenotype_Ontology:HP:0002394,Human_Phenotype_Ontology:HP:0030051,Human_Phenotype_Ontology:HP:0040083,MedGen:C0427144|MedGen:C3661900|MONDO:MONDO:0024530,MedGen:CN029274,OMIM:158810,Orphanet:610|MONDO:MONDO:0009714,MedGen:C1850671,OMIM:255600,Orphanet:289380|MONDO:MONDO:0100225,MedGen:CN117976	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.04	D	1.0	D	1.0	D	0.000	D	1.000	D	2.08	M	-1.17	T	0.292	D	0.602	D	0.452	3.166	16.59	4.34	2.142	3.490	17.236	0.589	0.351088878635	0.0006	0.000599042	0.0011	0.0001	0.0005	0	0	0.0013	0	0.0021	0.000925	143	154602	rs200710788	0.0013	0.0013	0.0013	0.0013	0.0019	0.0012	0.0012	0.0016	0.0015	0.0004	0.0004	0.0020	2.525e-05	0.0001	0.0007	0.0014	0.0013	0.0019	0.0012	0.0012	0.0013	0.0010	0.0021	0.0010	0.0010	0.0018	0.0017	0.0004	0	0.0003	0.0035	0	0	0	0.0021	0	0.0010	0.001	0.78490	D	0.003	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000001	0.62929	D	0.056517	1	0.81001	D	1.995	0.54099	M	-1.17	0.78199	T	-6.28	0.94988	D	0.482	0.54322	0.292	0.87433	D	0.602	0.85859	D	10	0.044142783	0.03338	T	0.351089	0.92270	D	0.589	0.83582	0.6	0.73105	0.934347342465	0.93367	0.8987093180575472	0.89842	0.507590868077	0.48939	0.575448870659	0.49445	T	0.574699	0.85976	D	-0.249479	0.14161	T	-0.137612	0.60324	T	0.0637714937539241	0.07748	T	0.924508	0.72366	D	0.7780999	0.82538	0.63723415	0.78817	0.77080023	0.82098	0.66911036	0.80590	-15.613	0.97122	D	0.3502189139601803	0.44748	0.224	0.61373	B	.;.;.;.;.	.;.;.;.;.	5.183434	0.86912	29.1	0.99769818939416133	0.85834	0.94191	0.60389	D	AEFDBI	0.670721	0.63771	D	0.557634977708968	0.70549	5.517729	0.493640458030972	0.67565	5.101422	0.999999974029864	0.74766	0.695654	0.57023	0	0.573888	0.26702	0	0.723109	0.80598	0	0.613276	0.41899	0	.	.	4.34	4.34	0.51267	2.403000	0.44184	9.599000	0.81062	0.618000	0.50648	0.999000	0.42656	1.000000	0.68203	0.954000	0.50415	0.0:0.0:1.0:0.0	17.236	0.86883	976	0.04745	von Willebrand factor, type A|von Willebrand factor, type A|von Willebrand factor, type A;.;von Willebrand factor, type A|von Willebrand factor, type A;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0.02381	1215.98	36	chr21	46112374	.	G	A	1215.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.99;DP=779;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.48;ReadPosRankSum=0.434;SOR=0.664	GT:AD:DP:GQ:PL	0/1:41,43:84:99:1230,0,905	20	0	1	0
chr21	46397402	46397402	G	A	exonic	PCNT	.	nonsynonymous SNV	PCNT:NM_001315529:exon22:c.G4000A:p.G1334R	Microcephalic osteodysplastic primordial dwarfism, type II, Autosomal recessive	.	0	1508	13	1	0	15	0.00494886	.	.	169657	not_specified|Intellectual_disability|not_provided|Microcephalic_osteodysplastic_primordial_dwarfism_type_II	MedGen:CN169374|Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756|MedGen:C3661900|MONDO:MONDO:0008872,MedGen:C0432246,OMIM:210720,Orphanet:2637	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.08	T	0.999	D	0.814	P	0.304	N	1.000	N	1.39	L	0.33	T	-0.731	T	0.275	T	0.686	2.830	15.43	5.46	2.560	4.647	16.801	0.227	.	0.0015	0.00359425	0.0032	0.0004	0.0005	0	0	0.0025	0	0.0126	0.0030401	470	154602	rs143796569	0.0033	0.0033	0.0031	0.0036	0.0127	0.0032	0.0032	0.0121	0.0118	0.0006	0.0006	3.826e-05	0	0.0005	0.0017	0.0031	0.0038	0.0127	0.0019	0.0019	0.0017	0.0021	0.0162	0.0017	0.0017	0.0133	0.0122	0.0006	0.0011	0.0007	0.0003	0	0.0002	0	0.0025	0.0019	0.0162	0.108	0.29420	T	0.084	0.41239	T	0.998	0.73220	D	0.807	0.58472	P	0.303674	0.14554	N	0.511594	0.999996	0.08975	N	1.845	0.48678	L	0.33	0.58323	T	-2.26	0.50502	N	0.262	0.29659	-0.7313	0.58898	T	0.275	0.64691	T	10	0.008995593	0.00203	T	.	.	.	0.227	0.52620	0.235	0.16457	0.71884942748	0.71637	0.04303776020404046	0.04248	0.484201137751	0.47341	0.288807570934	0.08749	T	0.045761	0.27221	T	-0.27923	0.10749	T	-0.16284	0.58094	T	0.0360778288447019	0.02995	T	0.767723	0.39623	T	0.091336384	0.21400	0.09635771	0.22893	0.091336384	0.21399	0.09635771	0.22892	-3.128	0.11621	T	.	.	0.200	0.42375	B	.	.	3.667143	0.52131	23.2	0.99645901095198219	0.76943	0.83027	0.42181	D	AEFDBHCIJ	0.350761	0.44410	N	0.268513640601526	0.54561	3.621278	0.185254883641047	0.49038	3.111961	0.999999999999948	0.74766	0.719381	0.83141	0	0.724815	0.89359	0	0.723109	0.80598	0	0.733575	0.97253	0	.	.	5.46	5.46	0.80021	4.162000	0.57962	6.481000	0.55737	-0.154000	0.11915	0.960000	0.33603	0.998000	0.33993	0.004000	0.06068	0.0:0.0:1.0:0.0	16.801	0.85476	976	0.04745	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.02381	2560.98	35	chr21	46397402	.	G	A	2560.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.600;DP=914;ExcessHet=0.0000;FS=1.673;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.20;ReadPosRankSum=-7.430e-01;SOR=0.584	GT:AD:DP:GQ:PL	0/1:104,106:210:99:2575,0,2481	20	0	1	0
chr22	18925165	18925165	A	G	exonic	LOC102724788;PRODH	.	nonsynonymous SNV	PRODH:NM_001195226:exon4:c.T229C:p.W77R	.	.	0	170	630	722	0	2074	0.859155	.	.	1159081	Proline_dehydrogenase_deficiency	MONDO:MONDO:0009400,MedGen:C0268529,OMIM:239500,Orphanet:419	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.53	T	0.0	B	0.0	B	0.094	N	0.999	P	.	.	-0.92	T	-0.991	T	0.000	T	0.068	-1.216	0.065	2.88	0.250	3.683	6.438	0.076	.	0.6739	0.78095	0.6417	0.8658	0.6056	0.9683	0.4835	0.5769	0.6024	0.6814	0.02359	614	26028	rs386819653	0.0003	0.0047	0.0004	0.0002	0.0023	0.0002	0.0001	0.0006	0.0003	0	0.0023	0	0	0	0	0.0004	0	0	0	0.0002	0	0	.	0	0	.	.	0	0	0	0	0	0	.	0	0	0	0.503	0.07670	T	0.534	0.09965	T	0.0	0.02946	B	0.0	0.01387	B	0.094139	0.20188	N	0.520350	0.999439	0.21199	P	.	.	.	-0.92	0.75108	T	3.71	0.00075	N	0.033	0.01068	-0.9908	0.32398	T	0.000	0.00011	T	8	1.1503014e-06	0.00003	T	.	.	.	0.124	0.34239	0.323	0.30387	.	.	0.36059814543275515	0.35973	0.483945717353	0.47326	0.248760938644	0.03638	T	0.002583	0.06018	T	-0.601222	0.00143	T	-0.49257	0.23121	T	0.00184463573786778	0.00019	T	0.00685721	0.00048	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.040	0.00015	B	.;.;.;.;.	.;.;.;.;.	0.485323	0.08545	5.311	0.22177376406136032	0.00880	0.05952	0.11910	N	AEFDBI	0.024100	0.01439	N	-0.980425259653166	0.09021	0.425321	-0.911628502467974	0.11819	0.6044718	0.999452624102034	0.39788	0.722319	0.85440	0	0.627178	0.54094	0	0.698795	0.65105	0	0.613276	0.41899	0	.	.	5.03	2.88	0.32617	3.825000	0.55430	1.457000	0.26651	-2.966000	0.00148	0.770000	0.29357	0.835000	0.27248	0.022000	0.11911	0.1618:0.0:0.6925:0.1458	6.438	0.21037	929	0.16858	.;.;.;.;.	.	.	.	.	rs4819756	Benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	0	0	0	0	1	0	0.6905	64105.31	193	chr22	18925165	.	A	G	64105.31	.	AC=29;AF=0.690;AN=42;BaseQRankSum=-1.553e+00;DP=3080;ExcessHet=0.2231;FS=0.000;InbreedingCoeff=0.2202;MLEAC=29;MLEAF=0.690;MQ=60.00;MQRankSum=0.00;QD=22.15;ReadPosRankSum=0.574;SOR=0.681	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:98,81:179:99:.:.:1947,0,2562	3	11	7	0
chr22	19516590	19516590	G	A	exonic	CDC45	.	nonsynonymous SNV	CDC45:NM_001178011:exon15:c.G1366A:p.G456S	Meier-Gorlin syndrome 7, Autosomal recessive	.	431	1086	5	0	0	5	0.00229674	.	.	1901405	Inborn_genetic_diseases|not_provided	MeSH:D030342,MedGen:C0950123|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.06	T	1.0	D	0.995	D	0.000	N	1.000	D	2.25	M	1.81	T	-0.906	T	0.145	T	0.313	3.764	19.11	3.2	1.230	6.404	10.961	0.295	0.038553795521	0.0002	0.000199681	0.0003	9.636e-05	0	0	0.0006	0.0002	0	0.0013	0.0002587	40	154602	rs139956849	0.0002	0.0002	0.0002	0.0002	0.0010	0.0002	0.0002	0.0008	0.0008	2.987e-05	4.472e-05	0	2.519e-05	0.0004	0.0002	0.0001	0.0003	0.0010	0.0002	0.0002	0.0001	0.0002	0.0010	0.0001	9.238e-05	0.0004	0.0003	4.816e-05	0	6.539e-05	0	0	0.0004	0	0.0002	0	0.0010	0.012	0.54683	D	0.019	0.60337	D	0.999	0.77913	D	0.993	0.81110	D	0.000000	0.84330	N	0.050315	1	0.81001	D	2.91	0.84121	M	1.81	0.25182	T	-3.86	0.73893	D	0.473	0.59478	-0.9058	0.47355	T	0.145	0.46805	T	10	0.0836153	0.13928	T	0.038554	0.58293	D	0.295	0.61502	.	.	0.656001370146	0.65313	0.7486587494418944	0.74811	0.469475219527	0.46252	0.51724088192	0.41237	T	0.251709	0.62199	T	-0.361607	0.04040	T	-0.34264	0.40044	T	0.535273909568787	0.33929	D	0.89771	0.64209	D	0.47780564	0.65767	0.27336875	0.53256	0.47680616	0.65707	0.34280494	0.60000	-5.307	0.43381	T	0.4309286689160444	0.51807	0.133	0.38462	B	.;.;.;.	.;.;.;.	4.389309	0.67730	25.1	0.9979190409378782	0.87750	0.93122	0.57384	D	AEFDBHCI	0.688219	0.64930	D	0.517127105115044	0.68102	5.171278	0.42127089900502	0.62891	4.512589	0.999999970770493	0.74766	0.732398	0.92422	0	0.702456	0.74545	0	0.643519	0.47002	0	0.727631	0.95156	0	.	.	5.29	3.2	0.35826	6.518000	0.73673	8.502000	0.77362	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.089000	0.17737	0.1514:0.0:0.8486:0.0	10.961	0.46596	697	0.58201	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1185.98	36	chr22	19516590	.	G	A	1185.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-8.190e-01;DP=850;ExcessHet=0.0000;FS=0.680;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.80;ReadPosRankSum=-3.650e-01;SOR=0.814	GT:AD:DP:GQ:PL	0/1:67,54:121:99:1200,0,1644	20	0	1	0
chr22	21023167	21023167	A	C	exonic	P2RX6	.	nonsynonymous SNV	P2RX6:NM_001349874:exon5:c.A154C:p.T52P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	D	0.993	D	0.929	D	0.000	D	1.000	N	2.045	M	3.62	T	-1.103	T	0.033	T	0.749	3.694	18.77	4.2	2.144	0.627	5.088	0.214	0.0154876096646	.	.	8.238e-06	0	0	0	0	0	0	6.056e-05	6.5e-06	1	154602	rs773083781	2.737e-06	2.736e-06	4.084e-06	1.375e-06	0.0002	6.4e-07	4.3e-07	.	.	0	0	0	0	0	0.0002	8.994e-07	1.656e-05	1.159e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.158	0.32769	T	0.18	0.29442	T	0.991	0.64070	D	0.929	0.66367	D	0.000017	0.62929	D	0.000000	0.606966	0.58761	D	2.52	0.73523	M	3.62	0.04399	T	-3.03	0.62747	D	0.441	0.47949	-1.1035	0.03693	T	0.033	0.14117	T	10	0.49842465	0.61404	T	0.015488	0.36250	T	0.214	0.50650	0.658	0.79585	0.263140351381	0.25927	0.8214760136259428	0.82104	0.472293714503	0.46467	0.339279979467	0.16330	T	0.180	0.53132	T	-0.103075	0.35915	T	-0.288982	0.45880	T	0.925974249839783	0.58799	D	0.508649	0.19863	T	0.57557493	0.71366	0.55932045	0.74505	0.57557493	0.71367	0.55932045	0.74506	-6.772	0.60291	T	.	.	0.654	0.71079	P	.;.	.;.	2.771166	0.36375	20.2	0.99631129083595027	0.76020	0.37668	0.25813	N	AEFDBHCI	0.379304	0.46238	N	0.29966920437741	0.56134	3.777533	0.213080051904852	0.50571	3.247867	0.999999780198256	0.74766	0.55562	0.30534	0	0.68496	0.65989	0	0.68496	0.61776	0	0.665031	0.64506	0	.	.	5.29	4.2	0.48814	0.085000	0.14759	4.165000	0.42235	0.756000	0.94297	0.000000	0.06391	0.997000	0.33255	0.484000	0.28656	0.7498:0.0:0.0891:0.1611	5.088	0.14027	637	0.64373	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	3221.98	33	chr22	21023167	.	A	C	3221.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.10;DP=1155;ExcessHet=0.0000;FS=2.052;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.98;ReadPosRankSum=0.386;SOR=0.824	GT:AD:DP:GQ:PL	0/1:152,117:269:99:3236,0,3978	20	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	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.25	738.84	17	chr22	21216084	.	C	T	738.84	.	AC=9;AF=0.250;AN=36;BaseQRankSum=2.32;DP=347;ExcessHet=5.0238;FS=1.528;InbreedingCoeff=-0.3403;MLEAC=10;MLEAF=0.278;MQ=43.88;MQRankSum=-1.754e+00;QD=5.43;ReadPosRankSum=0.080;SOR=0.771	GT:AD:DP:GQ:PL	0/1:9,3:12:91:91,0,221	9	0	9	3
chr22	23311788	23311788	-	CCGG	exonic	BCR	.	frameshift insertion	BCR:NM_021574:exon18:c.3142_3143insCCGG:p.V1050Rfs*17	Leukemia, acute lymphocytic, somatic;Leukemia, chronic myeloid, somatic	.	25	583	905	9	0	923	0.441838	.	.	1196252	not_provided|Chronic_myelogenous_leukemia,_BCR-ABL1_positive	MedGen:C3661900|Human_Phenotype_Ontology:HP:0005506,Human_Phenotype_Ontology:HP:0005544,MONDO:MONDO:0011996,MeSH:D015464,MedGen:C0279543,OMIM:608232,Orphanet:521	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0012679	33	26028	rs372013175	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.381	9572.82	36	chr22	23311788	.	T	TCCGG	9572.82	.	AC=16;AF=0.381;AN=42;BaseQRankSum=0.511;DP=1943;ExcessHet=20.9642;FS=19.140;InbreedingCoeff=-0.6154;MLEAC=16;MLEAF=0.381;MQ=55.14;MQRankSum=-7.359e+00;QD=5.78;ReadPosRankSum=0.550;SOR=1.916	GT:AD:DP:GQ:PL	0/1:101,15:116:99:326,0,4188	5	0	16	0
chr22	23753059	23753059	A	C	exonic	VPREB3	.	nonsynonymous SNV	VPREB3:NM_013378:exon2:c.T189G:p.S63R,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.23	T	0.238	B	0.092	B	0.002	N	1.000	N	1.17	L	-0.26	T	-1.060	T	0.115	T	0.421	1.979	12.57	-10.5	-1.958	-1.721	6.21	0.136	0.0319896287148	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.124	0.29959	T	0.29	0.21011	T	0.238	0.30817	B	0.092	0.30031	B	0.001870	0.37789	N	0.121090	1	0.08975	N	1.265	0.31966	L	-0.26	0.67187	T	-2.47	0.63782	N	0.242	0.27316	-1.0602	0.11706	T	0.115	0.40808	T	10	0.07734409	0.12195	T	0.03199	0.53933	D	0.136	0.36778	0.36	0.36385	0.240491677333	0.23641	0.3801898794299111	0.37933	0.24597794071	0.27129	0.431323945522	0.29389	T	0.073785	0.34780	T	-0.0868907	0.38587	T	-0.362589	0.37753	T	0.273347198963165	0.23890	T	0.324268	0.16939	T	0.2537911	0.48403	0.15016705	0.35426	0.2537911	0.48403	0.15016705	0.35425	-5.11	0.38012	T	.	.	0.277	0.51059	B	.;.	.;.	0.767948	0.11380	7.992	0.89917504693577255	0.19217	0.03766	0.09079	N	AEFDGBHCI	0.065296	0.12728	N	-1.45302205996838	0.02193	0.09656487	-1.62356649322904	0.01518	0.06874839	0.999999999998034	0.74766	0.646311	0.45356	0	0.601644	0.50151	0	0.645312	0.48771	0	0.567892	0.33627	0	.	.	5.57	-10.5	0.00234	-1.811000	0.01822	-2.299000	0.03932	0.754000	0.88378	0.000000	0.06391	0.000000	0.08366	0.999000	0.91618	0.3927:0.1117:0.425:0.0705	6.21	0.19836	976	0.04745	Immunoglobulin V-set domain|Immunoglobulin-like domain|Immunoglobulin V-set domain;Immunoglobulin V-set domain|Immunoglobulin-like domain|Immunoglobulin V-set domain|Immunoglobulin subtype	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	2045.98	34	chr22	23753059	.	A	C	2045.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.285e+00;DP=872;ExcessHet=0.0000;FS=3.665;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.55;ReadPosRankSum=-1.318e+00;SOR=0.457	GT:AD:DP:GQ:PL	0/1:81,82:163:99:2060,0,2147	20	0	1	0
chr22	30525107	30525107	C	A	exonic	SEC14L6	.	nonsynonymous SNV	SEC14L6:NM_001353443:exon11:c.G752T:p.C251F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	.	.	.	.	.	.	1.000	D	3.31	M	0.85	T	-0.085	T	0.352	T	0.763	3.074	16.26	3.69	1.602	6.958	14.199	0.432	0.0493306941547	.	.	.	.	.	.	.	.	.	.	6.5e-06	1	154602	rs866036817	2.988e-05	2.805e-05	2.306e-05	3.686e-05	0.0004	2.223e-05	2.001e-05	0.0001	0.0001	0	5.605e-05	0	0	0	0.0004	1.706e-05	5.258e-05	0.0002	1.315e-05	1.313e-05	1.285e-05	1.346e-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	0.001	0.78490	D	0.018	0.59732	D	.	.	.	.	.	.	.	.	.	.	0.999996	0.58761	D	3.63	0.94006	H	0.85	0.47130	T	-4.57	0.78721	D	0.764	0.76203	-0.0846	0.80450	T	0.352	0.71565	T	7	0.8480339	0.83973	D	0.049331	0.63767	D	0.432	0.73807	0.64	0.77687	0.697080698451	0.69446	0.43335222811068597	0.43252	0.154770312983	0.17475	0.526930689812	0.42602	T	0.137063	0.46979	T	-0.0334698	0.46910	T	-0.049185	0.67078	D	0.975262582302094	0.70859	D	0.907609	0.67324	D	0.68642443	0.77317	0.5561165	0.74325	0.68642443	0.77318	0.5561165	0.74326	-8.962	0.67452	D	.	.	0.216	0.44566	B	.	.	3.974265	0.58384	24.0	0.9935977015987395	0.60946	0.98613	0.84704	D	AEFBI	0.946552	0.95613	D	0.544186513701789	0.69728	5.398462	0.371152260090331	0.59792	4.160194	0.999962200389644	0.48965	0.615465	0.37627	0	0.563428	0.19063	0	0.658983	0.55881	0	0.586402	0.36253	0	.	.	3.69	3.69	0.41483	7.049000	0.76328	4.108000	0.41903	0.531000	0.24825	1.000000	0.71638	0.999000	0.35428	0.412000	0.27050	0.0:1.0:0.0:0.0	14.199	0.65232	340	0.86005	GOLD domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1110.98	36	chr22	30525107	.	C	A	1110.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.180;DP=854;ExcessHet=0.0000;FS=0.870;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.89;ReadPosRankSum=-1.277e+00;SOR=0.859	GT:AD:DP:GQ:PL	0/1:38,42:80:99:1125,0,970	20	0	1	0
chr22	35658950	35658950	C	T	exonic	APOL6	.	nonsynonymous SNV	APOL6:NM_030641:exon3:c.C386T:p.T129M,	.	.	429	1083	9	1	0	11	0.00505282	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.27	T	0.005	B	0.004	B	0.098	N	1.000	N	-0.7	N	3.93	T	-0.956	T	0.006	T	0.099	0.099	4.536	1.99	0.250	0.056	6.309	0.030	0.00173868611002	0.0017	0.000599042	0.0011	0.0003	0.0012	0	0	0.0018	0.0022	0.0001	0.0010284	159	154602	rs148655812	0.0009	0.0009	0.0009	0.0009	0.0035	0.0009	0.0009	0.0023	0.0019	0.0003	0.0016	0.0156	2.52e-05	0	0.0035	0.0006	0.0017	0.0002	0.0011	0.0011	0.0011	0.0010	0.0012	0.0009	0.0009	0.0008	0.0008	0.0001	0	0.0012	0.0179	0	0	0.0034	0.0010	0.0028	0.0002	0.4	0.10482	T	0.475	0.12072	T	0.005	0.12996	B	0.004	0.10090	B	0.098321	0.02523	N	1.875430	1	0.08975	N	-0.75	0.01730	N	3.93	0.03435	T	1.88	0.00467	N	0.039	0.01274	-0.9564	0.39843	T	0.006	0.02131	T	10	0.00320673	0.00054	T	0.001739	0.02934	T	0.030	0.07022	.	.	0.141422826196	0.13715	0.34514354692216964	0.34428	0.170673729105	0.19233	0.270285248756	0.06178	T	0.01532	0.12876	T	-0.654822	0.00068	T	-0.743462	0.03746	T	0.000962655513190271	0.00009	T	0.333467	0.07063	T	0.010551167	0.00008	0.02241543	0.00267	0.010551167	0.00008	0.02241543	0.00266	-3.682	0.19052	T	.	.	0.074	0.05145	B	.	.	0.028372	0.04481	1.194	0.21632141578199093	0.00833	0.00032	0.00291	N	AEFBI	0.021000	0.00888	N	-1.29591003158858	0.03724	0.1668809	-1.25546395137915	0.05050	0.2397411	0.992659981300732	0.32919	0.706548	0.73137	0	0.724815	0.89359	0	0.602189	0.34648	0	0.586402	0.36253	0	.	.	4.14	1.99	0.25423	0.576000	0.23446	-0.580000	0.08381	-0.701000	0.04053	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.3091:0.0:0.6909	6.309	0.20362	671	0.60868	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.04762	3442.11	35	chr22	35658950	.	C	T	3442.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=2.54;DP=1035;ExcessHet=0.1072;FS=0.489;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=15.16;ReadPosRankSum=0.316;SOR=0.641	GT:AD:DP:GQ:PL	0/1:49,67:116:99:1671,0,1298	19	0	2	0
chr22	36141823	36141823	C	T	exonic	APOL3	.	nonsynonymous SNV	APOL3:NM_145640:exon3:c.G586A:p.A196T	.	.	415	1103	3	1	0	5	0.00226142	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.52	T	0.98	D	0.463	P	0.807	N	1.000	N	-0.52	N	3.69	T	-0.920	T	0.005	T	0.154	1.080	9.409	-0.295	-0.030	-2.685	7.566	0.145	0.00581829593774	0.0040	0.000998403	0.0030	0.0011	0.0035	0	0.0009	0.0044	0.0011	0.0012	0.0030336	469	154602	rs140252051	0.0048	0.0048	0.0050	0.0046	0.0055	0.0047	0.0047	0.0054	0.0053	0.0007	0.0025	0.0099	0	0.0010	0.0040	0.0055	0.0055	0.0011	0.0033	0.0033	0.0036	0.0030	0.0053	0.0031	0.0030	0.0048	0.0046	0.0013	0	0.0020	0.0112	0	0.0009	0.0068	0.0053	0.0043	0.0006	0.62	0.05309	T	0.816	0.05146	T	0.98	0.59353	D	0.463	0.46548	P	0.806779	0.09281	N	0.919146	1	0.08975	N	0.36	0.11994	N	3.69	0.04114	T	-0.81	0.22294	N	0.147	0.15046	-0.9203	0.45513	T	0.005	0.01651	T	10	0.005380869	0.00118	T	0.005818	0.15131	T	0.145	0.38592	.	.	0.107399877778	0.10242	0.2811822284359578	0.28031	0.143658087998	0.16218	0.250289916992	0.03798	T	0.007452	0.06855	T	-0.648824	0.00074	T	-0.703951	0.05612	T	0.00844653624535999	0.00102	T	0.416058	0.11413	T	0.054770295	0.10553	0.049317155	0.07511	0.054770295	0.10552	0.049317155	0.07510	-7.125	0.54941	T	.	.	0.115	0.23113	B	.;.	.;.	-1.238452	0.00493	0.011	0.76810680461936132	0.11619	0.01404	0.04755	N	AEFDBI	0.061105	0.11659	N	-1.13830191988212	0.05975	0.2738227	-1.22935416762272	0.05444	0.2593925	0.754610472753901	0.23413	0.67177	0.52595	0	0.702456	0.74545	0	0.527494	0.11647	0	0.635551	0.53088	0	.	.	4.3	-0.295	0.12192	-2.331000	0.01190	-20.000000	0.00162	-2.806000	0.00184	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.5334:0.0:0.4666	7.566	0.27046	507	0.75469	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	2849.98	35	chr22	36141823	.	C	T	2849.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.690e-01;DP=1346;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.83;ReadPosRankSum=0.492;SOR=0.713	GT:AD:DP:GQ:PL	0/1:100,106:206:99:2864,0,2693	20	0	1	0
chr22	36265782	36265782	G	T	exonic	APOL1	.	stopgain	APOL1:NM_001136541:exon5:c.G892T:p.E298X	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.76	T	.	.	.	.	0.618	N	1.000	D	.	.	.	.	.	.	.	.	.	3.773	19.16	-2.28	-0.449	-1.035	3.413	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.617745	0.05738	N	1.200530	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.79	0.78737	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.299787	0.82950	D	0.192847	0.82730	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.;Tolerant;.	.;.;.;High;.	5.111238	0.85445	28.6	0.94747486642744438	0.25445	0.01550	0.05082	N	AEFDBI	0.051060	0.08984	N	-0.28464942149091	0.29742	1.651984	-0.709861734847565	0.16715	0.8855342	0.64071294737418	0.22051	0.706548	0.73137	0	0.724815	0.89359	0	0.547309	0.15389	0	0.567339	0.31927	0	.	.	3.18	-2.28	0.06438	-1.743000	0.01933	-20.000000	0.00162	-0.266000	0.06809	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.4028:0.0:0.402:0.1951	3.413	0.06937	489	0.76795	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.1905	3603.9	128	chr22	36265782	.	G	T	3603.9	.	AC=8;AF=0.190;AN=42;BaseQRankSum=-2.811e+00;DP=3016;ExcessHet=3.5521;FS=129.024;InbreedingCoeff=-0.2353;MLEAC=8;MLEAF=0.190;MQ=60.00;MQRankSum=0.00;QD=2.90;ReadPosRankSum=0.599;SOR=11.291	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:158,26:184:99:0|1:36265782_G_T:239,0,6166:36265782	13	0	8	0
chr22	36265787	36265787	G	T	exonic	APOL1	.	nonsynonymous SNV	APOL1:NM_001136541:exon5:c.G897T:p.Q299H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06	T	0.832	P	0.6	P	0.486	N	1.000	N	2	M	3.59	T	-0.987	T	0.028	T	0.143	1.827	12.07	0.676	0.477	1.048	7.454	0.076	0.00174566368718	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.079	0.33753	T	0.05	0.50514	T	0.832	0.46138	P	0.6	0.50752	P	0.486182	0.05010	N	1.272740	1	0.08975	N	1.98	0.53716	M	3.59	0.04544	T	-3.32	0.66085	D	0.056	0.07262	-0.9872	0.33298	T	0.028	0.11926	T	10	0.41554847	0.56516	T	0.001746	0.02934	T	0.076	0.22200	0.787	0.90993	0.536147182381	0.53264	0.1934163824026781	0.19259	0.198314738213	0.22208	0.238215714693	0.02632	T	0.036324	0.24062	T	-0.28305	0.10346	T	-0.644358	0.09354	T	0.571350753307343	0.35286	D	0.882812	0.60417	D	0.09095966	0.21301	0.08753992	0.20354	0.09095966	0.21301	0.08753992	0.20354	-4.203	0.26795	T	.	.	0.158	0.37293	B	.;.;.;.;.	.;.;.;.;.	1.086071	0.14694	11.25	0.98800888467532288	0.46445	0.06423	0.12427	N	AEFDBI	0.210716	0.33657	N	-0.470422674084812	0.23054	1.235307	-0.693552490859705	0.17120	0.908959	0.445296783057563	0.20490	0.706548	0.73137	0	0.724815	0.89359	0	0.547309	0.15389	0	0.567339	0.31927	0	.	.	3.18	0.676	0.17125	0.445000	0.21392	-1.627000	0.05032	-0.298000	0.06216	0.001000	0.13787	0.000000	0.08366	0.000000	0.00833	0.0:0.0:0.5404:0.4596	7.454	0.26427	489	0.76795	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.09524	2052.92	120	chr22	36265787	.	G	T	2052.92	.	AC=4;AF=0.095;AN=42;BaseQRankSum=-3.138e+00;DP=2808;ExcessHet=0.6776;FS=120.485;InbreedingCoeff=-0.1053;MLEAC=4;MLEAF=0.095;MQ=60.00;MQRankSum=0.00;QD=3.33;ReadPosRankSum=0.964;SOR=9.524	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:161,26:187:99:0|1:36265782_G_T:230,0,6332:36265782	17	0	4	0
chr22	36265788	36265788	G	T	exonic	APOL1	.	nonsynonymous SNV	APOL1:NM_001136541:exon5:c.G898T:p.V300L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06	T	0.757	P	0.429	B	0.021	N	1.000	N	2.065	M	3.34	T	-1.058	T	0.023	T	0.242	1.512	11.01	-0.39	0.081	-0.549	7.931	0.080	0.00139699107648	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.007	0.59928	D	0.252	0.36497	T	0.606	0.42139	P	0.287	0.41149	B	0.021435	0.26835	N	0.339041	1	0.08975	N	1.37	0.34214	L	3.34	0.06063	T	-2.1	0.47852	N	0.136	0.16028	-1.0577	0.12337	T	0.023	0.09604	T	10	0.42974234	0.57411	T	0.001397	0.02062	T	0.080	0.23350	0.79	0.91217	0.240491677333	0.23641	0.16720390685349407	0.16640	0.0932440907833	0.10540	0.259988605976	0.04889	T	0.018626	0.14980	T	-0.263696	0.12470	T	-0.616557	0.11457	T	0.400632858276367	0.28965	T	0.920908	0.71352	D	0.070749275	0.15611	0.06919031	0.14548	0.070749275	0.15611	0.06919031	0.14547	-3.674	0.18935	T	.	.	0.165	0.38354	B	.;.;.;.;.	.;.;.;.;.	-0.075038	0.03791	0.800	0.85417854666260362	0.15880	0.03431	0.08564	N	AEFDBI	0.283787	0.39681	N	-0.964199435183247	0.09377	0.4435163	-1.15603712399998	0.06660	0.3213267	0.433606993183405	0.20394	0.706548	0.73137	0	0.724815	0.89359	0	0.547309	0.15389	0	0.567339	0.31927	0	.	.	3.18	-0.39	0.11830	-0.264000	0.08683	-2.056000	0.04279	-2.667000	0.00218	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2601:0.0:0.7399:0.0	7.931	0.29068	489	0.76795	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	190.98	120	chr22	36265788	.	G	T	190.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.437e+00;DP=2765;ExcessHet=0.0000;FS=70.746;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=1.03;ReadPosRankSum=0.786;SOR=6.517	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:160,25:185:99:0|1:36265782_G_T:205,0,6295:36265782	20	0	1	0
chr22	42397946	42397946	C	T	exonic	NFAM1	.	nonsynonymous SNV	NFAM1:NM_145912:exon4:c.G575A:p.R192Q	.	.	.	.	.	.	.	.	.	.	.	2454807	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.71	T	0.003	B	0.001	B	0.011	N	1.000	N	-0.55	N	2.1	T	-1.019	T	0.016	T	0.054	-0.793	0.695	-7.48	-2.933	-2.963	4.603	0.008	0.00250016185109	7.7e-05	.	6.029e-05	0.0002	0	0	0	7.657e-05	0	0	5.17e-05	8	154602	rs369551888	1.594e-05	1.916e-05	1.793e-05	1.392e-05	0.0005	1.061e-05	8.86e-06	0.0001	7.649e-05	0.0001	2.354e-05	0	0	0	0.0005	1.091e-05	1.676e-05	2.354e-05	2.628e-05	2.626e-05	2.569e-05	2.69e-05	9.649e-05	8.14e-06	5.14e-06	3.249e-05	1.914e-05	9.649e-05	0	0	0	0	0	0	0	0	0	0.552	0.06543	T	0.7	0.05727	T	0.003	0.11197	B	0.001	0.04355	B	0.011423	0.01306	N	3.414860	1	0.08975	N	.	.	.	2.1	0.19990	T	0.51	0.02898	N	0.07	0.04307	-1.0187	0.24139	T	0.016	0.06711	T	10	0.029697716	0.01096	T	0.003	0.04980	T	0.008	0.00669	.	.	0.0611884634855	0.05136	0.1347075981104268	0.13394	0.0652307833919	0.07282	0.178465396166	0.00081	T	0.009876	0.08963	T	-0.636701	0.00087	T	-0.872918	0.00715	T	0.00970050785690546	0.00127	T	0.338666	0.07278	T	0.0177333	0.00298	0.025308818	0.00572	0.0177333	0.00298	0.025308818	0.00571	-3.432	0.15490	T	.	.	0.077	0.06525	B	.	.	-0.950915	0.00844	0.029	0.36626213066829294	0.02367	0.00850	0.03394	N	AEFBCI	0.029462	0.02785	N	-2.08951217417785	0.00135	0.005781734	-2.15820570944377	0.00139	0.006102448	0.999999999121018	0.74766	0.495158	0.18159	0	0.616935	0.53198	0	0.602189	0.34648	0	0.562822	0.20929	0	.	.	3.74	-7.48	0.01216	-2.970000	0.00733	-2.555000	0.03614	-0.900000	0.02330	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.194:0.5771:0.1019:0.1269	4.603	0.11756	236	0.90801	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	688.98	36	chr22	42397946	.	C	T	688.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.77;DP=812;ExcessHet=0.0000;FS=4.578;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.01;ReadPosRankSum=-1.074e+00;SOR=1.230	GT:AD:DP:GQ:PL	0/1:58,28:86:99:703,0,1451	20	0	1	0
chr22	42556543	42556543	T	G	exonic	SERHL2	.	nonsynonymous SNV	SERHL2:NM_001284334:exon4:c.T186G:p.D62E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.79	T	0.821	P	0.441	B	0.002	N	1.000	N	1.315	L	2.21	T	-0.999	T	0.032	T	0.212	-0.580	1.393	-2.85	-0.806	-1.272	13.100	0.034	0.00832094364314	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.179	0.22053	T	0.309	0.27503	T	0.247	0.31125	B	0.162	0.34839	B	0.001569	0.38612	N	0.282552	1	0.81001	D	.	.	.	2.21	0.18414	T	-1.49	0.39314	N	0.24	0.29544	-0.9991	0.30171	T	0.032	0.13854	T	10	0.09874669	0.17874	T	0.008321	0.22029	T	0.034	0.08419	0.426	0.47185	0.0138822411134	0.00435	0.4609707125075393	0.46015	1.10801927807	0.77958	0.357379436493	0.19003	T	0.012546	0.11008	T	-0.274701	0.11238	T	-0.632365	0.10235	T	0.54435122013092	0.34266	D	0.765423	0.44184	T	0.054485157	0.10461	0.05899406	0.10998	0.054485157	0.10460	0.05899406	0.10998	-5.382	0.40746	T	.	.	0.151	0.43748	B	.;.;.;.	.;.;.;.	0.944701	0.13207	9.706	0.6887751483704877	0.08795	0.14419	0.18393	N	AEFGI	0.179759	0.30705	N	-1.20641032318746	0.04905	0.2224121	-1.28055921703542	0.04693	0.2219803	0.532846911749338	0.21189	0.615465	0.37627	0	0.633656	0.55848	0	0.658983	0.55881	0	0.567892	0.33627	0	.	.	3.1	-2.85	0.05392	-0.976000	0.03896	-3.158000	0.03012	-0.735000	0.03699	0.469000	0.26714	0.000000	0.08366	0.069000	0.16583	0.0:0.6645:0.0:0.3355	13.100	0.58628	255	0.89985	Alpha/beta hydrolase fold-1;Alpha/beta hydrolase fold-1|Alpha/beta hydrolase fold-1;Alpha/beta hydrolase fold-1|Alpha/beta hydrolase fold-1;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.09375	507.45	36	chr22	42556543	.	T	G	507.45	.	AC=3;AF=0.094;AN=32;BaseQRankSum=-2.766e+00;DP=1305;ExcessHet=0.3300;FS=195.461;InbreedingCoeff=-0.1760;MLEAC=4;MLEAF=0.125;MQ=54.99;MQRankSum=-9.840e-01;QD=1.67;ReadPosRankSum=1.80;SOR=9.967	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:66,29:95:99:0|1:42556539_T_G:293,0,917:42556539	13	0	3	5
chr22	49922304	49922304	C	0	exonic	CRELD2	.	.	.	.	.	445	520	288	49	220	606	0.270687	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4048	17831.26	36	chr22	49922304	.	C	T,*	17831.26	.	AC=10,8;AF=0.238,0.190;AN=42;BaseQRankSum=2.03;DP=1611;ExcessHet=1.2156;FS=0.561;InbreedingCoeff=0.0278;MLEAC=10,8;MLEAF=0.238,0.190;MQ=60.00;MQRankSum=0.00;QD=13.87;ReadPosRankSum=0.644;SOR=0.655	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:52,51,0:103:99:0|1:49922276_G_T:1741,0,1878,1898,2032,3929:49922276	7	1	7	0
chr22	50277967	50277967	G	A	exonic	PLXNB2	.	nonsynonymous SNV	PLXNB2:NM_001376869:exon31:c.C4934T:p.A1645V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.765	P	0.196	B	0.016	N	0.555	N	1.04	L	2.41	T	-1.055	T	0.029	T	0.205	1.930	12.41	4.08	2.254	3.835	10.148	0.094	0.0138489545171	.	.	8.385e-06	0	0	0	0	0	0	6.059e-05	6.5e-06	1	154602	rs778176391	2.054e-06	2.736e-06	2.725e-06	1.376e-06	1.159e-05	5.5e-07	1.5e-07	3e-07	1.1e-07	0	0	0	0	0	0	1.799e-06	0	1.159e-05	1.313e-05	1.312e-05	0	2.685e-05	0.0002	2.18e-06	8.2e-07	.	.	0	0	0	0	0.0002	0	0	1.47e-05	0	0	0.01	0.72154	D	0.019	0.59159	D	0.765	0.43734	P	0.196	0.36635	B	0.015614	0.28199	N	0.291451	0.555352	0.31300	N	0.69	0.16971	N	2.25	0.17761	T	-2.42	0.57599	N	0.441	0.47949	-1.0553	0.12961	T	0.029	0.12453	T	10	0.49063352	0.60970	T	0.013849	0.33560	T	0.094	0.27141	0.769	0.89609	0.20808081866	0.20439	0.3652820736137257	0.36442	1.12703149	0.78481	0.570133209229	0.48696	T	0.16485	0.51047	T	-0.272983	0.11426	T	-0.533043	0.18985	T	0.456540293928899	0.31038	T	0.934707	0.75503	D	0.10923419	0.25826	0.1403891	0.33465	0.10923419	0.25826	0.1403891	0.33464	-5.217	0.39114	T	.	.	0.092	0.16494	B	.;.;.	.;.;.	3.717189	0.53094	23.3	0.99692601718143281	0.80044	0.88203	0.48027	D	AEFDGBCIJ	0.749067	0.69062	D	0.0330417165173814	0.43362	2.631	0.0503978236987837	0.42090	2.539888	0.999632961576472	0.41205	0.67177	0.52595	0	0.702456	0.74545	0	0.723109	0.80598	0	0.711	0.71501	0	.	.	4.08	4.08	0.46880	2.935000	0.48657	4.944000	0.46233	0.604000	0.46097	0.997000	0.40164	1.000000	0.68203	0.234000	0.22842	0.0:0.0:0.65:0.35	10.148	0.41949	616	0.66398	Plexin, cytoplasmic RasGAP domain;Plexin, cytoplasmic RasGAP domain;Plexin, cytoplasmic RasGAP domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2394.98	39	chr22	50277967	.	G	A	2394.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.69;DP=1036;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.61;ReadPosRankSum=-2.460e-01;SOR=0.685	GT:AD:DP:GQ:PL	0/1:84,92:176:99:2409,0,1946	20	0	1	0
chr22	50482876	50482876	C	A	exonic	ADM2	.	nonsynonymous SNV	ADM2:NM_001369882:exon2:c.C420A:p.D140E	.	.	426	1094	2	0	0	2	0.000913242	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.26	T	0.636	P	0.312	B	.	.	0.716	N	1.795	L	1.9	T	-0.970	T	0.117	T	0.064	3.987	20.4	2.5	0.363	0.249	3.924	0.025	0.0257302017427	0.0005	.	0.0022	0.0002	0.0008	0	0	0.0036	0	0.0013	0.0013001	201	154602	rs199634529	0.0014	0.0014	0.0014	0.0015	0.0028	0.0014	0.0014	0.0017	0.0015	0.0003	0.0004	0.0009	0	0.0001	0.0028	0.0016	0.0013	0.0012	0.0013	0.0013	0.0014	0.0012	0.0021	0.0011	0.0011	0.0017	0.0016	0.0003	0.0286	0.0003	0.0012	0	0	0.0034	0.0020	0.0014	0.0021	0.058	0.37750	T	0.198	0.27767	T	0.636	0.40327	P	0.312	0.41466	B	.	.	.	.	0.716004	0.29968	N	2.215	0.62545	M	1.9	0.23486	T	-1.68	0.40082	N	0.041	0.13341	-0.9700	0.37200	T	0.117	0.41142	T	9	0.006729543	0.00153	T	0.02573	0.48684	D	0.035	0.08770	0.179	0.08626	0.107399877778	0.10242	0.1434588839463422	0.14268	0.350262262539	0.36871	0.451337784529	0.32127	T	0.014533	0.12356	T	-0.613853	0.00120	T	-0.660392	0.08240	T	0.0296979975305053	0.01944	T	0.859314	0.55085	D	0.2307563	0.45836	0.13396005	0.32112	0.2307563	0.45836	0.13396005	0.32111	-3.21	0.12603	T	.	.	0.692	0.72634	P	.;.	.;.	3.377689	0.46700	22.3	0.99657743118979814	0.77757	0.86373	0.45640	D	AEFBI	0.315201	0.41984	N	0.000489604226521251	0.41878	2.512858	-0.000701824469610451	0.39685	2.356736	0.999814632580262	0.43459	0.646311	0.45356	0	0.588066	0.40923	0	0.645312	0.48771	0	0.604944	0.38103	0	.	.	4.62	2.5	0.29355	0.368000	0.20132	1.648000	0.27829	0.438000	0.21043	0.986000	0.36153	1.000000	0.68203	0.972000	0.54974	0.1872:0.6026:0.0:0.2102	3.924	0.08756	784	0.47045	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	304.98	38	chr22	50482876	.	C	A	304.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-7.290e-01;DP=750;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=7.26;ReadPosRankSum=1.14;SOR=0.569	GT:AD:DP:GQ:PL	0/1:28,14:42:99:319,0,862	20	0	1	0
chr22	50504912	50504912	C	T	exonic	LMF2	.	nonsynonymous SNV	LMF2:NM_001363816:exon10:c.G1252A:p.V418M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.907	P	0.305	B	0.000	D	1.000	D	2.83	M	1.81	T	-0.833	T	0.097	T	0.585	3.853	19.57	4.85	2.230	4.211	15.451	0.235	0.0389883282556	.	.	1.982e-05	0	0	0	0	1.819e-05	0	6.493e-05	1.29e-05	2	154602	rs772539862	1.236e-05	1.231e-05	1.366e-05	1.105e-05	0.0002	7.73e-06	6.38e-06	8.12e-06	6.44e-06	0	0	0	2.538e-05	0	0.0002	1.352e-05	0	1.164e-05	6.565e-06	6.561e-06	0	1.343e-05	2.406e-05	0	0	.	.	2.406e-05	0	0	0	0	0	0	0	0	0	0.026	0.46910	D	0.011	0.64786	D	0.907	0.50062	P	0.305	0.41207	B	0.000000	0.84330	D	0.000000	0.997764	0.81001	D	2.635	0.77114	M	1.81	0.25182	T	-1.37	0.33998	N	0.406	0.48780	-0.8331	0.53100	T	0.097	0.36367	T	10	0.27808064	0.45377	T	0.038988	0.58547	D	0.235	0.53788	.	.	0.0297737177859	0.01360	0.6676074119343035	0.66698	.	.	0.716506242752	0.69537	T	0.045991	0.27290	T	-0.126641	0.32040	T	-0.319057	0.42678	T	0.772834718227386	0.44610	D	0.756924	0.38041	T	0.13877971	0.32083	0.13258493	0.31811	0.13877971	0.32083	0.13258493	0.31810	-9.752	0.72414	D	.	.	0.141	0.30817	B	.;.	.;.	3.467374	0.48358	22.6	0.9985757587085784	0.93639	0.97643	0.76109	D	AEFBI	0.737559	0.68271	D	0.451048562831737	0.64264	4.676879	0.43827233767823	0.63968	4.641512	0.999999971664555	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	4.85	4.85	0.62375	3.579000	0.53645	5.850000	0.50329	0.599000	0.40250	0.994000	0.38300	1.000000	0.68203	0.176000	0.21171	0.0:1.0:0.0:0.0	15.451	0.75004	721	0.55360	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1235.98	33	chr22	50504912	.	C	T	1235.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.02;DP=1196;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.65;ReadPosRankSum=2.21;SOR=0.602	GT:AD:DP:GQ:PL	0/1:34,45:79:99:1250,0,897	20	0	1	0
chrX	6533798	6533798	C	T	exonic	VCX3A	.	nonsynonymous SNV	VCX3A:NM_016379:exon3:c.G508A:p.V170M,	.	.	440	949	96	2	35	135	0.0500501	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.11	T	0.147	B	0.012	B	.	.	1.000	N	0	N	1.95	T	-1.009	T	0.014	T	0.129	-0.572	1.426	-1.19	-0.254	0.040	2.317	0.016	.	0.0069	0.0111258	0.0082	0.0107	0.0039	0.0002	0.0084	0.0092	0.0102	0.0105	0.0016905	44	26028	rs150302824	0.0013	0.0039	0.0020	1.813e-05	0.0039	0.0013	0.0013	0.0022	0.0017	0.0002	0.0004	0.0017	0.0001	0.0060	0.0039	0.0012	0.0016	0.0012	0.0038	0.0066	0.0051	4.212e-05	0.0069	0.0035	0.0033	0.0048	0.0046	0.0021	0.0018	0.0007	0.0067	0.0003	0.0033	0.0123	0.0054	0.0024	0.0069	0.18	0.21968	T	0.053	0.47336	T	0.147	0.27870	B	0.012	0.16012	B	.	.	.	.	1	0.08975	N	0.14	0.08730	N	1.95	0.22474	T	-1.11	0.32991	N	0.061	0.03283	-1.0093	0.27136	T	0.014	0.05657	T	9	0.0061380565	0.00138	T	.	.	.	0.016	0.02506	.	.	0.043077524339	0.03247	0.0029042973972772407	0.00270	0.268142659766	0.29341	0.492105185986	0.37731	T	0.008069	0.07427	T	-0.801426	0.00008	T	-0.959347	0.00234	T	0.0014211687957868	0.00014	T	0.418458	0.11053	T	0.07575911	0.17089	0.0887198	0.20703	0.07575911	0.17089	0.0887198	0.20702	-7.283	0.56074	T	.	.	0.128	0.27161	B	.;.	.;.	0.636114	0.10045	6.796	0.36933765174065997	0.02404	0.00020	0.00220	N	AEFI	.	.	.	.	.	.	.	.	.	1.41924753792295E-6	0.01202	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.595	-1.19	0.09091	-2.402000	0.01125	-3.692000	0.02601	-1.745000	0.00696	0.000000	0.06391	0.000000	0.08366	0.008000	0.08271	0.0:0.4005:0.3328:0.2667	2.317	0.03945	1000	0.00083	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.08333	3764.59	41	chrX	6533798	.	C	T,*	3764.59	.	AC=2,1;AF=0.056,0.028;AN=36;BaseQRankSum=0.852;DP=4116;ExcessHet=0.3300;FS=3.994;InbreedingCoeff=-0.1201;MLEAC=2,1;MLEAF=0.056,0.028;MQ=50.61;MQRankSum=-9.630e-01;QD=5.17;ReadPosRankSum=-1.693e+00;SOR=0.902	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:348,117,0:465:99:1|0:6533736_G_C:2910,0,13567,3957,13917,17875:6533736	15	0	2	3
chrX	6533798	6533798	C	0	exonic	VCX3A	.	.	.	.	.	440	949	96	2	35	135	0.0500501	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	3764.59	41	chrX	6533798	.	C	T,*	3764.59	.	AC=2,1;AF=0.056,0.028;AN=36;BaseQRankSum=0.852;DP=4116;ExcessHet=0.3300;FS=3.994;InbreedingCoeff=-0.1201;MLEAC=2,1;MLEAF=0.056,0.028;MQ=50.61;MQRankSum=-9.630e-01;QD=5.17;ReadPosRankSum=-1.693e+00;SOR=0.902	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:348,117,0:465:99:1|0:6533736_G_C:2910,0,13567,3957,13917,17875:6533736	15	0	2	3
chrX	6533824	6533883	TCCACCTCGCTCTCCTGACTCAGTGGTTCCTCCACCTGGCTCTCCTGACTCAGTGGTTCT	-	exonic	VCX3A	.	nonframeshift deletion	VCX3A:NM_016379:exon3:c.423_482del:p.V160_E179del,	.	.	45	125	45	1	10	57	0.158249	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0004	0.0009	0.0006	6.599e-05	0.0042	0.0004	0.0004	0.0031	0.0027	0.0003	0.0005	0.0028	0.0042	0.0009	0.0014	0.0003	0.0010	0.0004	0.0044	0.0088	0.0058	0	0.0074	0.0039	0.0038	0.0043	0.0039	0.0053	0.0028	0.0055	0.0040	0.0074	0.0053	0.0227	0.0036	0.0050	0.0022	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4	4493.37	298	chrX	6533823	.	CTCCACCTCGCTCTCCTGACTCAGTGGTTCCTCCACCTGGCTCTCCTGACTCAGTGGTTCT	C,TTCCACCTCGCTCTCCTGACTCAGTGGTTCCTCCACCTGGCTCTCCTGACTCAGTGGTTCT,*	4493.37	.	AC=1,6,1;AF=0.050,0.300,0.050;AN=20;BaseQRankSum=0.473;DP=4867;ExcessHet=4.6500;FS=6.509;InbreedingCoeff=-0.3114;MLEAC=2,9,2;MLEAF=0.100,0.450,0.100;MQ=47.84;MQRankSum=1.25;QD=4.70;ReadPosRankSum=2.24;SOR=1.298	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:314,0,69,0:383:99:1|0:6533736_G_C:1810,2755,15879,0,13124,12916,2755,15879,13124,15879:6533736	2	0	1	11
chrX	6533823	6533883	CTCCACCTCGCTCTCCTGACTCAGTGGTTCCTCCACCTGGCTCTCCTGACTCAGTGGTTCT	0	exonic	VCX3A	.	.	.	.	.	627	586	269	6	34	315	0.193393	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4	4493.37	298	chrX	6533823	.	CTCCACCTCGCTCTCCTGACTCAGTGGTTCCTCCACCTGGCTCTCCTGACTCAGTGGTTCT	C,TTCCACCTCGCTCTCCTGACTCAGTGGTTCCTCCACCTGGCTCTCCTGACTCAGTGGTTCT,*	4493.37	.	AC=1,6,1;AF=0.050,0.300,0.050;AN=20;BaseQRankSum=0.473;DP=4867;ExcessHet=4.6500;FS=6.509;InbreedingCoeff=-0.3114;MLEAC=2,9,2;MLEAF=0.100,0.450,0.100;MQ=47.84;MQRankSum=1.25;QD=4.70;ReadPosRankSum=2.24;SOR=1.298	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:314,0,69,0:383:99:1|0:6533736_G_C:1810,2755,15879,0,13124,12916,2755,15879,13124,15879:6533736	2	0	1	11
chrX	6533828	6533828	C	0	exonic	VCX3A	.	.	.	.	.	589	631	262	5	35	307	0.177314	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1538	1960.98	281	chrX	6533828	.	C	T,*	1960.98	.	AC=2,2;AF=0.077,0.077;AN=26;BaseQRankSum=-4.230e-01;DP=4752;ExcessHet=0.8560;FS=1.716;InbreedingCoeff=0.0215;MLEAC=3,3;MLEAF=0.115,0.115;MQ=46.81;MQRankSum=-6.630e-01;QD=2.78;ReadPosRankSum=-1.398e+00;SOR=0.909	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:313,60,0:373:99:1|0:6533736_G_C:1579,0,12855,2519,13036,15555:6533736	9	0	2	8
chrX	7843963	7843963	G	A	exonic	VCX	.	nonsynonymous SNV	VCX:NM_013452:exon3:c.G568A:p.V190M,	.	.	437	977	32	24	52	132	0.0393314	.	.	2823790	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.11	T	0.96	D	0.35	B	.	.	1.000	N	-0.895	N	1.95	T	-0.975	T	0.015	T	0.15	-0.236	2.861	.	-2.086	-0.450	5.945	0.114	.	.	0.00397351	0.0023	0.0005	0.0015	0	0.0064	0.0024	0.0034	0.0033	0.0033311	515	154602	rs201876650	0.0058	0.0087	0.0070	0.0034	0.0127	0.0057	0.0056	0.0090	0.0078	0.0004	0.0027	0.0047	4.041e-05	0.0127	0.0127	0.0060	0.0058	0.0058	0.0042	0.0065	0.0052	0.0001	0.0066	0.0038	0.0037	0.0059	0.0056	0.0006	0	0.0016	0.0077	0	0.0070	0	0.0066	0.0033	0.0061	0.138	0.25873	T	0.106	0.37872	T	0.96	0.55278	D	0.35	0.42815	B	.	.	.	.	1	0.08975	N	0.255	0.09829	N	1.95	0.22474	T	-0.73	0.25986	N	0.067	0.03956	-0.9754	0.36037	T	0.015	0.06090	T	8	0.0065913796	0.00149	T	.	.	.	0.114	0.32008	.	.	0.043077524339	0.03247	0.0032430097609367696	0.00302	0.354020575304	0.37190	0.454822123051	0.32603	T	0.011581	0.10309	T	-0.720018	0.00028	T	-0.892538	0.00557	T	0.00885473886292793	0.00110	T	0.460954	0.13351	T	0.105991945	0.25061	0.08594243	0.19877	0.105991945	0.25061	0.08594243	0.19877	-6.074	0.46894	T	.	.	0.125	0.26514	B	.;.	.;.	1.214405	0.16076	12.30	0.56313972898184261	0.05526	0.00026	0.00253	N	AEFI	.	.	.	.	.	.	.	.	.	2.63253077637493E-4	0.06244	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-1.318000	0.02813	-3.812000	0.02521	-2.279000	0.00328	0.000000	0.06391	0.000000	0.08366	0.007000	0.07825	0.0:0.6784:0.3216:0.0	5.945	0.18451	1000	0.00083	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.1111	1857.61	416	chrX	7843963	.	G	A,*	1857.61	.	AC=2,2;AF=0.056,0.056;AN=36;BaseQRankSum=1.90;DP=4808;ExcessHet=0.6776;FS=3.155;InbreedingCoeff=-0.1507;MLEAC=2,2;MLEAF=0.056,0.056;MQ=46.15;MQRankSum=1.89;QD=1.91;ReadPosRankSum=-2.610e+00;SOR=0.745	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:357,81,0:438:99:0|1:7843963_G_A:1033,0,9003,2274,8531,12433:7843963	14	0	2	3
chrX	7843963	7843963	G	0	exonic	VCX	.	.	.	.	.	437	977	32	24	52	132	0.0393314	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1111	1857.61	416	chrX	7843963	.	G	A,*	1857.61	.	AC=2,2;AF=0.056,0.056;AN=36;BaseQRankSum=1.90;DP=4808;ExcessHet=0.6776;FS=3.155;InbreedingCoeff=-0.1507;MLEAC=2,2;MLEAF=0.056,0.056;MQ=46.15;MQRankSum=1.89;QD=1.91;ReadPosRankSum=-2.610e+00;SOR=0.745	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:357,81,0:438:99:0|1:7843963_G_A:1033,0,9003,2274,8531,12433:7843963	14	0	2	3
chrX	7843976	7843976	C	0	exonic	VCX	.	.	.	.	.	638	189	366	281	48	976	0.710567	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7353	86037.69	422	chrX	7843976	.	C	T,*,CAGGAGAGCGAGATGGAGGAACCACTGAGTCAGGAGAGCCAGGTGGAGGAACCACT	86037.69	.	AC=25,2,1;AF=0.735,0.059,0.029;AN=34;BaseQRankSum=2.89;DP=5914;ExcessHet=0.7503;FS=2.774;InbreedingCoeff=0.0476;MLEAC=29,2,1;MLEAF=0.853,0.059,0.029;MQ=49.09;MQRankSum=-9.050e+00;QD=21.65;ReadPosRankSum=1.63;SOR=0.508	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,434,0,0:434:99:1|1:7843963_G_A:13577,1301,0,12385,1278,13259,12385,1278,13259,13259:7843963	0	8	6	4
chrX	7843976	7843976	-	AGGAGAGCGAGATGGAGGAACCACTGAGTCAGGAGAGCCAGGTGGAGGAACCACT	exonic	VCX	.	frameshift insertion	VCX:NM_013452:exon3:c.581_582insAGGAGAGCGAGATGGAGGAACCACTGAGTCAGGAGAGCCAGGTGGAGGAACCACT:p.S195Gfs*73,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.875e-05	0.0002	0	0	0	0	0	0	.	.	.	.	3.738e-06	8.672e-06	5.615e-06	0	6.53e-05	6.2e-07	2.3e-07	.	.	0	6.53e-05	0	0	0	0	2.552e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7353	86037.69	422	chrX	7843976	.	C	T,*,CAGGAGAGCGAGATGGAGGAACCACTGAGTCAGGAGAGCCAGGTGGAGGAACCACT	86037.69	.	AC=25,2,1;AF=0.735,0.059,0.029;AN=34;BaseQRankSum=2.89;DP=5914;ExcessHet=0.7503;FS=2.774;InbreedingCoeff=0.0476;MLEAC=29,2,1;MLEAF=0.853,0.059,0.029;MQ=49.09;MQRankSum=-9.050e+00;QD=21.65;ReadPosRankSum=1.63;SOR=0.508	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,434,0,0:434:99:1|1:7843963_G_A:13577,1301,0,12385,1278,13259,12385,1278,13259,13259:7843963	0	8	6	4
chrX	10469688	10469688	G	A	exonic	MID1	.	nonsynonymous SNV	MID1:NM_001193279:exon6:c.C1294T:p.L432F	Opitz GBBB syndrome, type I, X-linked recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.822e-06	1.821e-06	1.361e-06	2.752e-06	1.847e-05	3e-07	1.1e-07	.	.	0	0	0	0	0	0	1.188e-06	0	1.847e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.215	0.26306	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.06	0.03175	.	.	.	.	.	.	.	0.049869597	0.04636	T	.	.	.	.	.	.	.	0.228066490088	0.22430	.	.	.	.	.	.	.	0.006829	0.06256	T	-0.218282	0.18229	T	-0.551324	0.17198	T	.	.	.	0.334067	0.07092	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.144	0.31708	B	.	.	1.071713	0.14539	11.11	0.85981199067195402	0.16236	0.02091	0.06209	N	AEFBI	.	.	.	.	.	.	.	.	.	0.999612355279754	0.40981	.	.	.	.	.	.	.	.	.	.	.	.	0.283609	0.34178	4.85	0.652	0.16995	0.121000	0.15496	0.832000	0.21958	0.676000	0.76740	0.066000	0.21956	0.096000	0.22607	0.995000	0.73285	0.4727:0.0:0.3766:0.1507	5.068	0.13928	505	0.75648	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2619	2843.69	154	chrX	10469688	.	G	A,C	2843.69	.	AC=10,1;AF=0.238,0.024;AN=42;BaseQRankSum=-4.097e+00;DP=2076;ExcessHet=7.7275;FS=136.517;InbreedingCoeff=-0.3621;MLEAC=10,1;MLEAF=0.238,0.024;MQ=60.00;MQRankSum=0.00;QD=2.08;ReadPosRankSum=0.424;SOR=11.381	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:139,22,0:161:99:0|1:10469688_G_A:113,0,5248,528,5312,5840:10469688	10	0	10	0
chrX	10469688	10469688	G	C	exonic	MID1	.	nonsynonymous SNV	MID1:NM_001193279:exon6:c.C1294G:p.L432V	Opitz GBBB syndrome, type I, X-linked recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.122	0.35710	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.066	0.03841	.	.	.	.	.	.	.	0.056298643	0.06289	T	.	.	.	.	.	.	.	0.327401308167	0.32341	.	.	.	.	.	.	.	0.002243	0.01642	T	-0.246398	0.14543	T	-0.59171	0.13519	T	.	.	.	0.329867	0.06895	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.108	0.20391	B	.	.	2.708854	0.35399	19.89	0.75207624297957498	0.10986	0.17709	0.19954	N	AEFBI	.	.	.	.	.	.	.	.	.	0.999612355279754	0.40981	.	.	.	.	.	.	.	.	.	.	.	.	0.283609	0.34178	4.85	0.652	0.16995	0.121000	0.15496	0.832000	0.21958	0.676000	0.76740	0.066000	0.21956	0.096000	0.22607	0.995000	0.73285	0.4727:0.0:0.3766:0.1507	5.068	0.13928	505	0.75648	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.2619	2843.69	154	chrX	10469688	.	G	A,C	2843.69	.	AC=10,1;AF=0.238,0.024;AN=42;BaseQRankSum=-4.097e+00;DP=2076;ExcessHet=7.7275;FS=136.517;InbreedingCoeff=-0.3621;MLEAC=10,1;MLEAF=0.238,0.024;MQ=60.00;MQRankSum=0.00;QD=2.08;ReadPosRankSum=0.424;SOR=11.381	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:139,22,0:161:99:0|1:10469688_G_A:113,0,5248,528,5312,5840:10469688	10	0	10	0
chrX	10469690	10469690	T	C	exonic	MID1	.	nonsynonymous SNV	MID1:NM_001193279:exon6:c.A1292G:p.Y431C	Opitz GBBB syndrome, type I, X-linked recessive	.	.	.	.	.	.	.	.	0.0842	0.246	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0012	0.0089	0.0017	0	0.0014	0.0011	0.0011	0.0013	0.0013	0.0011	5.717e-05	0.0005	0.0003	0	0	0.0014	0.0011	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.007	0.69154	D	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.611	0.62781	.	.	.	.	.	.	.	0.5160695	0.62373	D	.	.	.	.	.	.	.	0.702451314445	0.69986	.	.	.	.	.	.	.	0.029078	0.20915	T	-0.0458167	0.45080	T	-0.303589	0.44343	T	.	.	.	0.416058	0.10924	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	0.48469	B	.	.	1.822216	0.23154	15.91	0.93045119261725329	0.22651	0.71697	0.35125	D	AEFBI	.	.	.	.	.	.	.	.	.	0.99999824567079	0.74766	.	.	.	.	.	.	.	.	.	.	.	.	0.483522	0.39157	5.6	5.6	0.84997	3.630000	0.54014	4.911000	0.45953	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0763:0.0:0.9237	10.887	0.46181	505	0.75648	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.2895	2549.41	154	chrX	10469690	.	T	C	2549.41	.	AC=11;AF=0.289;AN=38;BaseQRankSum=-3.832e+00;DP=2194;ExcessHet=7.7275;FS=128.174;InbreedingCoeff=-0.4080;MLEAC=12;MLEAF=0.316;MQ=60.00;MQRankSum=0.00;QD=1.85;ReadPosRankSum=0.463;SOR=11.234	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:141,22:163:99:0|1:10469688_G_A:107,0,5277:10469688	8	0	11	2
chrX	10469693	10469693	T	C	exonic	MID1	.	nonsynonymous SNV	MID1:NM_001193279:exon6:c.A1289G:p.E430G	Opitz GBBB syndrome, type I, X-linked recessive	.	.	.	.	.	.	.	.	1.0000	0.956	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0.0024	0.0002	0	0.0002	0.0001	0.0001	0.0002	0.0002	0.0001	0	0.0002	0	0	0	0.0002	0.0002	3.742e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.153	0.32144	T	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.203	0.22486	.	.	.	.	.	.	.	0.24297184	0.41502	T	.	.	.	.	.	.	.	0.747603607226	0.74533	.	.	.	.	.	.	.	0.021315	0.16623	T	0.0253054	0.55096	T	-0.201427	0.54511	T	.	.	.	0.294771	0.05441	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.188	0.40457	B	.	.	5.344784	0.89672	31	0.96935891014238906	0.31676	0.98570	0.84213	D	AEFBI	.	.	.	.	.	.	.	.	.	0.999999999998814	0.74766	.	.	.	.	.	.	.	.	.	.	.	.	0.899241	0.56623	5.6	5.6	0.84997	7.515000	0.80659	7.688000	0.65646	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:0.0:1.0	14.867	0.70064	505	0.75648	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2143	2167.81	117	chrX	10469693	.	T	C	2167.81	.	AC=9;AF=0.214;AN=42;BaseQRankSum=-4.149e+00;DP=2021;ExcessHet=4.7172;FS=131.479;InbreedingCoeff=-0.2861;MLEAC=9;MLEAF=0.214;MQ=60.00;MQRankSum=0.00;QD=1.93;ReadPosRankSum=0.361;SOR=11.043	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:140,22:162:99:0|1:10469688_G_A:110,0,5219:10469688	12	0	9	0
chrX	19966632	19966632	G	C	exonic	BCLAF3	.	nonsynonymous SNV	BCLAF3:NM_001367774:exon2:c.C59G:p.P20R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.919	P	0.682	P	.	.	1.000	N	0.695	N	2.52	T	-1.020	T	0.030	T	0.258	2.692	14.96	4.29	2.412	3.346	2.103	0.099	0.0197514388331	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.023	0.49117	D	0.281	0.21612	T	0.919	0.50927	P	0.682	0.53531	P	.	.	.	.	0.999715	0.20609	N	.	.	.	2.52	0.14160	T	0.31	0.04022	N	0.159	0.16586	-1.0196	0.23845	T	0.030	0.12892	T	8	0.18049496	0.33236	T	0.019751	0.42191	T	0.099	0.28413	0.224	0.14813	0.0675242888579	0.06100	0.04617323195685326	0.04561	0.823727238072	0.67295	.	.	.	0.140502	0.47507	T	-0.29417	0.09221	T	-0.660331	0.08244	T	0.727342188358307	0.42072	D	0.89671	0.63922	D	0.1763202	0.38538	0.21213081	0.45670	0.1763202	0.38537	0.21213081	0.45669	-2.031	0.03300	T	.	.	0.199	0.46320	B	.;.	.;.	2.758463	0.36172	20.2	0.99560467708738964	0.71707	0.91169	0.52995	D	AEFBI	.	.	.	.	.	.	.	.	.	0.987540898232125	0.31289	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.39	4.29	0.50359	3.393000	0.52286	6.491000	0.55760	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.2296:0.0:0.4561:0.3144	2.103	0.03460	66	0.97223	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	836.98	33	chrX	19966632	.	G	C	836.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.117e+00;DP=840;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=7.41;ReadPosRankSum=-1.015e+00;SOR=0.680	GT:AD:DP:GQ:PL	0/1:73,40:113:99:851,0,2073	20	0	1	0
chrX	24364259	24364259	-	TGC	exonic	SUPT20HL1	.	nonframeshift insertion	SUPT20HL1:NM_001136234:exon1:c.1577_1578insTGC:p.A543_P544insA,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.381	21595.21	70	chrX	24364256	.	TTGC	TTGCTGC,TTGCTGCTGC,TTGCTGCTGCTGC,T,TTGCTGCTGCTGCTGC,TTGCTGCTGCTGCTGCTGC	21595.21	.	AC=3,2,7,4,2,1;AF=0.071,0.048,0.167,0.095,0.048,0.024;AN=42;BaseQRankSum=0.020;DP=2737;ExcessHet=0.0777;FS=0.625;InbreedingCoeff=0.3272;MLEAC=3,2,7,4,2,1;MLEAF=0.071,0.048,0.167,0.095,0.048,0.024;MQ=59.96;MQRankSum=0.00;QD=28.12;ReadPosRankSum=-2.820e-01;SOR=0.662	GT:AD:DP:GQ:PL	0/1:46,45,0,0,2,0,0:93:99:1351,0,1439,1560,1582,3296,1560,1582,3296,3296,1494,1489,3276,3276,3434,1560,1582,3296,3296,3276,3296,1560,1582,3296,3296,3276,3296,3296	8	0	1	0
chrX	24364259	24364259	-	TGCTGC	exonic	SUPT20HL1	.	nonframeshift insertion	SUPT20HL1:NM_001136234:exon1:c.1577_1578insTGCTGC:p.A543_P544insAA,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.381	21595.21	70	chrX	24364256	.	TTGC	TTGCTGC,TTGCTGCTGC,TTGCTGCTGCTGC,T,TTGCTGCTGCTGCTGC,TTGCTGCTGCTGCTGCTGC	21595.21	.	AC=3,2,7,4,2,1;AF=0.071,0.048,0.167,0.095,0.048,0.024;AN=42;BaseQRankSum=0.020;DP=2737;ExcessHet=0.0777;FS=0.625;InbreedingCoeff=0.3272;MLEAC=3,2,7,4,2,1;MLEAF=0.071,0.048,0.167,0.095,0.048,0.024;MQ=59.96;MQRankSum=0.00;QD=28.12;ReadPosRankSum=-2.820e-01;SOR=0.662	GT:AD:DP:GQ:PL	0/1:46,45,0,0,2,0,0:93:99:1351,0,1439,1560,1582,3296,1560,1582,3296,3296,1494,1489,3276,3276,3434,1560,1582,3296,3296,3276,3296,1560,1582,3296,3296,3276,3296,3296	8	0	1	0
chrX	24364259	24364259	-	TGCTGCTGC	exonic	SUPT20HL1	.	nonframeshift insertion	SUPT20HL1:NM_001136234:exon1:c.1577_1578insTGCTGCTGC:p.A543_P544insAAA,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.381	21595.21	70	chrX	24364256	.	TTGC	TTGCTGC,TTGCTGCTGC,TTGCTGCTGCTGC,T,TTGCTGCTGCTGCTGC,TTGCTGCTGCTGCTGCTGC	21595.21	.	AC=3,2,7,4,2,1;AF=0.071,0.048,0.167,0.095,0.048,0.024;AN=42;BaseQRankSum=0.020;DP=2737;ExcessHet=0.0777;FS=0.625;InbreedingCoeff=0.3272;MLEAC=3,2,7,4,2,1;MLEAF=0.071,0.048,0.167,0.095,0.048,0.024;MQ=59.96;MQRankSum=0.00;QD=28.12;ReadPosRankSum=-2.820e-01;SOR=0.662	GT:AD:DP:GQ:PL	0/1:46,45,0,0,2,0,0:93:99:1351,0,1439,1560,1582,3296,1560,1582,3296,3296,1494,1489,3276,3276,3434,1560,1582,3296,3296,3276,3296,1560,1582,3296,3296,3276,3296,3296	8	0	1	0
chrX	24364259	24364259	-	TGCTGCTGCTGC	exonic	SUPT20HL1	.	nonframeshift insertion	SUPT20HL1:NM_001136234:exon1:c.1577_1578insTGCTGCTGCTGC:p.A543_P544insAAAA,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.381	21595.21	70	chrX	24364256	.	TTGC	TTGCTGC,TTGCTGCTGC,TTGCTGCTGCTGC,T,TTGCTGCTGCTGCTGC,TTGCTGCTGCTGCTGCTGC	21595.21	.	AC=3,2,7,4,2,1;AF=0.071,0.048,0.167,0.095,0.048,0.024;AN=42;BaseQRankSum=0.020;DP=2737;ExcessHet=0.0777;FS=0.625;InbreedingCoeff=0.3272;MLEAC=3,2,7,4,2,1;MLEAF=0.071,0.048,0.167,0.095,0.048,0.024;MQ=59.96;MQRankSum=0.00;QD=28.12;ReadPosRankSum=-2.820e-01;SOR=0.662	GT:AD:DP:GQ:PL	0/1:46,45,0,0,2,0,0:93:99:1351,0,1439,1560,1582,3296,1560,1582,3296,3296,1494,1489,3276,3276,3434,1560,1582,3296,3296,3276,3296,1560,1582,3296,3296,3276,3296,3296	8	0	1	0
chrX	24364259	24364259	-	TGCTGCTGCTGCTGC	exonic	SUPT20HL1	.	nonframeshift insertion	SUPT20HL1:NM_001136234:exon1:c.1577_1578insTGCTGCTGCTGCTGC:p.A543_P544insAAAAA,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.381	21595.21	70	chrX	24364256	.	TTGC	TTGCTGC,TTGCTGCTGC,TTGCTGCTGCTGC,T,TTGCTGCTGCTGCTGC,TTGCTGCTGCTGCTGCTGC	21595.21	.	AC=3,2,7,4,2,1;AF=0.071,0.048,0.167,0.095,0.048,0.024;AN=42;BaseQRankSum=0.020;DP=2737;ExcessHet=0.0777;FS=0.625;InbreedingCoeff=0.3272;MLEAC=3,2,7,4,2,1;MLEAF=0.071,0.048,0.167,0.095,0.048,0.024;MQ=59.96;MQRankSum=0.00;QD=28.12;ReadPosRankSum=-2.820e-01;SOR=0.662	GT:AD:DP:GQ:PL	0/1:46,45,0,0,2,0,0:93:99:1351,0,1439,1560,1582,3296,1560,1582,3296,3296,1494,1489,3276,3276,3434,1560,1582,3296,3296,3276,3296,1560,1582,3296,3296,3276,3296,3296	8	0	1	0
chrX	48688723	48688723	T	C	exonic	WAS	.	nonsynonymous SNV	WAS:NM_000377:exon10:c.T995C:p.V332A,	Neutropenia, severe congenital, X-linked, X-linked recessive;Thrombocytopenia, X-linked, X-linked recessive;Thrombocytopenia, X-linked, intermittent, X-linked recessive;Wiskott-Aldrich syndrome, X-linked recessive	YES	18	1471	21	12	0	45	0.0150653	.	.	139149	Wiskott-Aldrich_syndrome|Thrombocytopenia_1|X-linked_severe_congenital_neutropenia|not_provided|not_specified	MONDO:MONDO:0010518,MedGen:C0043194,OMIM:301000,Orphanet:906|MONDO:MONDO:0010743,MedGen:C1839163,OMIM:313900,Orphanet:268322,Orphanet:852|MONDO:MONDO:0010294,MedGen:C1845987,OMIM:300299,Orphanet:86788|MedGen:C3661900|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.82	T	0.0	B	0.0	B	0.934	N	1.000	N	0.55	N	-6.39	D	0.867	D	0.889	D	0.082	0.845	8.413	1.89	0.064	0.038	5.057	0.258	0.90982718101	0.0031	0.00317881	0.0051	0.0007	0.0035	0	0.0093	0.0070	0.0100	0.0014	0.0002305	6	26028	rs2737799	0.0055	0.0055	0.0056	0.0055	0.0155	0.0054	0.0054	0.0121	0.0109	0.0013	0.0060	0.0055	0	0.0079	0.0155	0.0059	0.0062	0.0018	0.0049	0.0050	0.0052	0.0042	0.0079	0.0046	0.0044	0.0065	0.0060	0.0011	0	0.0079	0.0054	0	0.0071	0.0093	0.0067	0.0067	0.0020	0.486	0.08091	T	0.525	0.10281	T	0.0	0.02946	B	0.0	0.01387	B	0.933838	0.08401	N	0.952422	1	0.08975	N	1.385	0.34509	L	-6.39	0.99678	D	0.4	0.03463	N	0.027	0.00571	0.867	0.95243	D	0.889	0.96318	D	10	0.009927154	0.00223	T	0.909827	0.99327	D	0.258	0.56959	.	.	0.781784224007	0.77977	0.11400849391897283	0.11328	0.703904773147	0.61288	0.598560571671	0.52700	T	0.114995	0.43324	T	-0.413763	0.01877	T	-0.362973	0.37708	T	0.00133126121913758	0.00013	T	0.421058	0.11199	T	0.061471365	0.12732	0.062531896	0.12250	0.0548544	0.10582	0.07176855	0.15407	-2.654	0.06925	T	0.08786395398335804	0.05207	0.069	0.03231	B	.	.	1.224534	0.16187	12.38	0.92801244441008002	0.22324	0.03845	0.09197	N	AEFDBI	.	.	.	.	.	.	.	.	.	0.998875246217969	0.37868	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.39	1.89	0.24700	-0.012000	0.12637	0.058000	0.14093	0.659000	0.54702	0.001000	0.13787	0.008000	0.19753	0.999000	0.91618	0.0:0.1037:0.1817:0.7146	5.057	0.13874	142	0.94345	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	887.98	35	chrX	48688723	.	T	C	887.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.563e+00;DP=769;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.24;ReadPosRankSum=-3.340e-01;SOR=0.735	GT:AD:DP:GQ:PL	0/1:39,40:79:99:902,0,1007	20	0	1	0
chrX	49208567	49208567	T	C	exonic	CACNA1F	.	nonsynonymous SNV	CACNA1F:NM_001256789:exon43:c.A5071G:p.T1691A	Aland Island eye disease, X-linked;Cone-rod dystrophy, X-linked, 3, X-linked recessive;Night blindness, congenital stationary (incomplete), 2A, X-linked, X-linked	.	.	.	.	.	.	.	.	.	.	1503257	not_provided|Inborn_genetic_diseases	MedGen:C3661900|MeSH:D030342,MedGen:C0950123	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.82	T	0.0	B	0.0	B	0.451	N	1.000	N	-0.84	N	-3.79	D	-0.283	T	0.534	D	0.063	-2.018	0.007	-1.79	-0.455	-0.303	9.454	0.238	0.0342588863887	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1198251463	4.56e-06	4.553e-06	6.806e-06	0	0.0002	1.34e-06	9.7e-07	2.261e-05	1.226e-05	0	8.53e-05	0	0	0	0.0002	0	2.172e-05	0	9.118e-06	8.743e-06	1.288e-05	0	9.735e-05	0	0	.	.	0	0	9.735e-05	0	0	0	0	0	0	0	0.802	0.03209	T	0.731	0.05146	T	0.0	0.02946	B	0.0	0.01387	B	0.450573	0.04812	N	1.401840	1	0.08975	N	-0.145	0.04423	N	-3.87	0.95922	D	-0.33	0.12472	N	0.053	0.04547	-0.2826	0.75469	T	0.534	0.82762	D	10	0.029898167	0.01116	T	0.034259	0.55552	D	0.238	0.54217	0.157	0.06070	0.376089632046	0.37223	0.27417202825827286	0.27330	0.219439555169	0.24485	0.287760585546	0.08596	T	0.082752	0.36900	T	-0.262632	0.12593	T	-0.502539	0.22085	T	0.00812467811588996	0.00097	T	0.459554	0.13284	T	0.038909934	0.05273	0.05832419	0.10759	0.038909934	0.05272	0.05832419	0.10758	-4.1	0.25290	T	0.06277890335518323	0.01884	0.066	0.02200	B	.;.;.	.;.;.	-0.664715	0.01404	0.082	0.17367538661287538	0.00503	0.00295	0.01577	N	AEFI	.	.	.	.	.	.	.	.	.	0.95327010886663	0.28064	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.86	-1.79	0.07504	-0.294000	0.08346	-2.871000	0.03276	-0.206000	0.08541	0.000000	0.06391	0.000000	0.08366	0.251000	0.23288	0.0:0.3272:0.0:0.6728	9.454	0.37907	37	0.98026	.;.;Voltage-gated calcium channel subunit alpha, C-terminal	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1756.98	35	chrX	49208567	.	T	C	1756.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.21;DP=869;ExcessHet=0.0000;FS=3.615;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.21;ReadPosRankSum=0.968;SOR=0.974	GT:AD:DP:GQ:PL	0/1:96,76:172:99:1771,0,2291	20	0	1	0
chrX	49332776	49332776	A	T	exonic	GAGE13;GAGE2D;GAGE2E;GAGE8	.	nonsynonymous SNV	GAGE2D:NM_001098407:exon2:c.A39T:p.R13S	.	.	548	918	55	1	0	57	0.0301109	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	0.626	P	0.34	B	.	.	1.000	N	0.995	L	2.43	T	-1.027	T	0.034	T	0.13	1.685	11.59	0.78	0.561	0.553	.	0.009	0.0963211805793	.	.	0.0021	0	0	0.0870	0	0	0	0.0127	.	.	.	rs782197330	0.0004	0.0024	0.0006	1.027e-05	0.0011	0.0004	0.0004	0.0008	0.0007	0.0002	0.0011	0.0007	0.0004	0.0004	0.0006	0.0004	0.0003	0.0002	0.0003	0.0033	0.0004	0	0.0005	0.0002	0.0002	0.0002	0.0002	0.0003	0	0	0	0	0.0015	0	0.0005	0	0	.	.	.	0.065	0.44702	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.179	0.19325	-1.0272	0.21363	T	0.034	0.14639	T	8	0.10150775	0.18551	T	0.096321	0.76582	D	.	.	.	.	0.0551355673512	0.04727	0.044374252869738985	0.04381	.	.	0.481666773558	0.36287	T	0.023792	0.18095	T	-0.449224	0.01141	T	-0.883056	0.00629	T	0.489776283502579	0.32256	T	0.334567	0.07109	T	0.41984916	0.62081	0.30143943	0.56176	0.41984916	0.62082	0.30143943	0.56175	-4.846	0.35123	T	.	.	0.287	0.51951	B	.	.	1.310242	0.17132	12.98	0.98174813158402829	0.38890	0.00875	0.03461	N	AEFI	.	.	.	.	.	.	.	.	.	1.42886845054689E-6	0.01202	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.78	0.78	0.17701	-0.334000	0.07927	-1.097000	0.06340	-0.565000	0.04808	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	.	.	.	53	0.97589	GAGE|GAGE	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.1316	161.85	21	chrX	49332776	.	A	T	161.85	.	AC=5;AF=0.132;AN=38;BaseQRankSum=-3.195e+00;DP=273;ExcessHet=0.0454;FS=4.060;InbreedingCoeff=0.1396;MLEAC=5;MLEAF=0.132;MQ=29.40;MQRankSum=-1.559e+00;QD=4.37;ReadPosRankSum=2.20;SOR=0.136	GT:AD:DP:GQ:PL	0/1:7,2:9:25:25,0,173	15	1	3	2
chrX	55146104	55146104	G	A	exonic	FAM104B	.	stopgain	FAM104B:NM_001166700:exon3:c.C331T:p.R111X	.	.	438	7	893	184	0	1261	0.98902	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	.	.	.	.	.	.	0.974	N	.	.	.	.	.	.	.	.	.	2.938	15.79	0.637	0.126	1.026	4.504	.	.	.	.	0.0005	0.0042	0	0	0.0002	7.025e-05	0	0.0001	0.0310669	4803	154602	rs1047054	7.297e-06	9.106e-06	9.533e-06	2.762e-06	3.791e-05	3.14e-06	2.27e-06	6.14e-06	2.3e-06	3.791e-05	0	0	0	0	0	5.942e-06	0	3.701e-05	1.802e-05	1.746e-05	1.286e-05	3.013e-05	0.0004	2.99e-06	1.12e-06	.	.	3.282e-05	0	0	0	0	0	0	0	0	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.984587	0.24787	N	.	.	.	.	.	.	.	.	.	0.121	0.18512	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.334032	0.85436	D	0.242037	0.85245	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.	.;.;.	4.503254	0.70449	25.5	0.92570320911590998	0.22025	0.23489	0.22092	N	AEFDGBIJ	.	.	.	.	.	.	.	.	.	0.999986651300857	0.51787	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.59	0.637	0.16907	1.269000	0.32677	-0.938000	0.06858	0.596000	0.33519	1.000000	0.71638	0.000000	0.08366	0.291000	0.24285	0.0:0.0:0.6198:0.3802	4.504	0.11285	314	0.87270	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.6429	358994.42	659	chrX	55146104	.	G	A	358994.42	.	AC=27;AF=0.643;AN=42;BaseQRankSum=0.384;DP=14798;ExcessHet=17.4423;FS=0.000;InbreedingCoeff=-0.5620;MLEAC=27;MLEAF=0.643;MQ=60.00;MQRankSum=0.00;QD=25.13;ReadPosRankSum=0.159;SOR=0.675	GT:AD:DP:GQ:PL	0/1:154,619:773:99:16735,0,2228	0	6	15	0
chrX	55146139	55146139	G	A	exonic	FAM104B	.	nonsynonymous SNV	FAM104B:NM_001166700:exon3:c.C296T:p.T99I	.	.	392	597	530	3	0	536	0.309827	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.0	B	0.0	B	.	.	1.000	N	0	N	1.2	T	-0.995	T	0.031	T	0.047	-0.165	3.194	-3.2	-1.373	-0.117	6.324	0.027	0.00183666452811	.	.	1.173e-05	0	0	0	0	2.144e-05	0	0	0.0003842	10	26028	rs111573608	0	2.735e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	8.719e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	.	.	.	1.2	0.37405	T	1.24	0.01024	N	0.218	0.30461	-0.9951	0.31272	T	0.031	0.13330	T	9	0.02422443	0.00659	T	0.001837	0.03193	T	0.027	0.05988	.	.	0.107399877778	0.10242	0.2636019881297539	0.26273	0.0855686498455	0.09666	.	.	.	.	.	.	-0.525263	0.00410	T	-0.99228	0.00154	T	0.0269564041948217	0.01537	T	0.618838	0.26722	T	.	.	.	.	.	.	.	.	-2.987	0.10042	T	.	.	0.077	0.10159	B	.;.;.	.;.;.	-0.509590	0.01836	0.146	0.55558757236298129	0.05367	0.01261	0.04425	N	AEFDGBIJ	.	.	.	.	.	.	.	.	.	0.999998720991634	0.74766	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.6	-3.2	0.04838	0.118000	0.15436	-7.508000	0.01142	-0.947000	0.02050	0.987000	0.36337	0.000000	0.08366	0.919000	0.45453	0.5556:0.0:0.4444:0.0	6.324	0.20437	314	0.87270	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.3824	41642.18	636	chrX	55146139	.	G	A	41642.18	.	AC=13;AF=0.382;AN=34;BaseQRankSum=0.241;DP=14777;ExcessHet=12.7758;FS=1.317;InbreedingCoeff=-0.5556;MLEAC=15;MLEAF=0.441;MQ=60.00;MQRankSum=0.00;QD=4.35;ReadPosRankSum=0.564;SOR=0.591	GT:AD:DP:GQ:PL	0/1:668,139:807:99:1787,0,17803	4	0	13	4
chrX	55146173	55146173	G	A	exonic	FAM104B	.	nonsynonymous SNV	FAM104B:NM_001166700:exon3:c.C262T:p.P88S	.	.	395	510	614	3	0	620	0.378049	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06	T	0.137	B	0.013	B	.	.	1.000	N	0	N	1.03	T	-1.045	T	0.046	T	0.044	2.192	13.29	0.635	0.130	1.087	4.527	0.021	0.00397070644289	.	.	0	0	0	0	0	0	0	0	0.0018057	47	26028	rs113745415	0	9.135e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	8.72e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.1	0.44029	T	0.019	0.59159	D	0.137	0.27402	B	0.013	0.16460	B	.	.	.	.	1	0.08975	N	.	.	.	1.03	0.40469	T	-0.15	0.09297	N	0.133	0.30461	-1.0449	0.15854	T	0.046	0.19680	T	9	0.10664967	0.19773	T	0.003971	0.09400	T	0.021	0.04004	.	.	0.0986583533028	0.09354	0.17703511721202211	0.17622	0.085900391515	0.09707	.	.	.	.	.	.	-0.47977	0.00741	T	-0.926933	0.00345	T	0.15306082367897	0.17345	T	0.714029	0.35027	T	.	.	.	.	.	.	.	.	-2.918	0.09324	T	.	.	0.099	0.18247	B	.;.;.	.;.;.	1.416818	0.18331	13.68	0.99268186498303135	0.57457	0.22113	0.21636	N	AEFDGBIJ	.	.	.	.	.	.	.	.	.	0.999986653019121	0.51787	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.6	0.635	0.16895	0.918000	0.28299	0.017000	0.13531	0.596000	0.33519	0.999000	0.42656	0.000000	0.08366	0.033000	0.13494	0.0:0.0:0.6213:0.3787	4.527	0.11390	314	0.87270	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.4	44724.71	464	chrX	55146173	.	G	A	44724.71	.	AC=16;AF=0.400;AN=40;BaseQRankSum=1.44;DP=14192;ExcessHet=22.9655;FS=0.657;InbreedingCoeff=-0.6471;MLEAC=16;MLEAF=0.400;MQ=60.00;MQRankSum=0.00;QD=3.95;ReadPosRankSum=0.470;SOR=0.810	GT:AD:DP:GQ:PL	0/1:647,125:772:99:2073,0,19813	4	0	16	1
chrX	55146197	55146197	G	A	exonic	FAM104B	.	stopgain	FAM104B:NM_001166699:exon3:c.C238T:p.Q80X	.	.	397	483	637	5	0	647	0.401116	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	.	.	.	.	0.067	U	1.000	D	.	.	.	.	.	.	.	.	.	1.559	11.17	1.6	1.084	1.600	6.091	.	.	.	.	0.0009	0.0037	0.0002	0.0034	0.0004	0.0003	0	0.0012	0.0033426	87	26028	rs113263757	2.052e-05	0.0007	3.012e-05	0	0.0002	1.343e-05	1.147e-05	5.37e-05	3.17e-05	0.0002	0	0	0.0001	0	0	1.458e-05	4.432e-05	1.939e-05	0	5.238e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	0.066869	0.21780	U	0.325359	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.281	0.36359	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.166988	0.70845	D	0.00208969	0.70471	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerant;.;Tolerant;.;.	High;.;High;.;.	5.479427	0.91365	32	0.96222129513840093	0.29091	0.25851	0.22822	N	AEFDGBIJ	.	.	.	.	.	.	.	.	.	0.999994922950989	0.74766	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.6	1.6	0.22686	1.881000	0.39273	1.530000	0.27153	0.596000	0.33519	0.820000	0.29989	0.004000	0.18990	0.022000	0.11911	0.0:0.0:1.0:0.0	6.091	0.19219	314	0.87270	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.4048	41330.81	464	chrX	55146197	.	G	A	41330.81	.	AC=17;AF=0.405;AN=42;BaseQRankSum=1.21;DP=12738;ExcessHet=25.1139;FS=0.664;InbreedingCoeff=-0.6768;MLEAC=17;MLEAF=0.405;MQ=60.00;MQRankSum=0.00;QD=4.19;ReadPosRankSum=-3.990e-01;SOR=0.814	GT:AD:DP:GQ:PL	0/1:587,113:700:99:2438,0,18717	4	0	17	0
chrX	55146212	55146212	C	T	exonic	FAM104B	.	nonsynonymous SNV	FAM104B:NM_001166699:exon3:c.G223A:p.D75N	.	.	432	10	1015	52	13	1132	0.982441	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4	T	0.003	B	0.001	B	0.171	N	1.000	P	-0.345	N	1.04	T	-1.045	T	0.035	T	0.025	-1.501	0.017	-1.04	-0.355	-0.019	4.225	0.012	0.00302221843962	.	0.0013245	0.0001	0.0014	0	0	0	2.118e-05	0	0	0.0081067	211	26028	rs1047042	4.61e-06	4.563e-06	5.457e-06	2.843e-06	3.873e-05	1.35e-06	9.8e-07	6.25e-06	2.34e-06	3.873e-05	0	5.196e-05	0	0	0	1.202e-06	0	3.766e-05	9.039e-06	8.741e-06	1.287e-05	0	9.612e-05	0	0	.	.	0	0	9.612e-05	0	0	0	0	0	0	0	0.675	0.04495	T	1.0	0.06345	T	0.003	0.11197	B	0.0	0.04355	B	0.171170	0.17370	N	0.505297	1	0.08975	P	-0.49	0.02651	N	1.04	0.40218	T	0.87	0.01688	N	0.132	0.13626	-1.0454	0.15709	T	0.035	0.15160	T	9	0.0060353875	0.00136	T	0.003022	0.06487	T	0.012	0.01476	0.247	0.18293	0.0806252709748	0.07271	0.0651596601341745	0.06454	0.0775316632676	0.08717	0.25642067194	0.04473	T	0.008956	0.08187	T	-0.596363	0.00153	T	-1.09441	0.00031	T	0.0048729239977625	0.00052	T	0.519848	0.16911	T	0.03745953	0.04805	0.041539483	0.04745	0.03745953	0.04805	0.041539483	0.04745	-3.393	0.14963	T	.	.	0.058	0.00614	B	.;.;.;.;.	.;.;.;.;.	-0.711233	0.01295	0.069	0.1342819324597182	0.00264	0.00118	0.00744	N	AEFDGBIJ	.	.	.	.	.	.	.	.	.	0.999988775956904	0.51787	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.59	-1.04	0.09555	0.059000	0.14199	-2.996000	0.03156	-0.242000	0.07441	0.003000	0.16062	0.000000	0.08366	0.015000	0.10482	0.0:0.4679:0.0:0.5321	4.225	0.10030	314	0.87270	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.5238	279484.49	466	chrX	55146212	.	C	T	279484.49	.	AC=22;AF=0.524;AN=42;BaseQRankSum=2.82;DP=11864;ExcessHet=43.6797;FS=1.429;InbreedingCoeff=-0.9104;MLEAC=22;MLEAF=0.524;MQ=60.00;MQRankSum=0.00;QD=25.15;ReadPosRankSum=1.65;SOR=0.530	GT:AD:DP:GQ:PL	0/1:151,487:638:99:15565,0,2517	0	1	20	0
chrX	55146247	55146247	G	C	exonic	FAM104B	.	nonsynonymous SNV	FAM104B:NM_001166699:exon3:c.C188G:p.P63R	.	.	398	590	530	4	0	538	0.313155	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.999	D	0.991	D	0.182	U	1.000	N	1.385	L	0.49	T	-0.956	T	0.213	T	0.424	2.149	13.14	1.6	1.084	1.915	6.091	0.133	0.0130273709953	.	.	.	.	.	.	.	.	.	.	0.0032657	85	26028	rs111638770	9.115e-07	9.107e-07	1.361e-06	0	1.848e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.848e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.006	0.72224	D	0.752	0.77913	P	0.071	0.79672	B	0.181519	0.17089	U	0.482281	1	0.18198	N	1.79	0.46772	L	0.49	0.55775	T	-6.46	0.91956	D	0.329	0.36989	-0.9561	0.39898	T	0.213	0.57334	T	10	0.25765532	0.43183	T	0.013027	0.32109	T	0.133	0.36157	0.439	0.49321	0.176091768786	0.17195	0.15725273701375614	0.15646	0.462644719079	0.45794	0.299729704857	0.10360	T	0.09323	0.39168	T	-0.104812	0.35627	T	-0.388332	0.34746	T	0.953682541847229	0.64085	D	0.80372	0.51656	T	0.38991144	0.60026	0.48550862	0.70220	0.38991144	0.60026	0.48550862	0.70221	-3.385	0.15177	T	.	.	0.146	0.32275	B	.;.;.;.;.	.;.;.;.;.	2.836954	0.37416	20.5	0.99573153193770736	0.72501	0.41324	0.26632	N	AEFDGBI	.	.	.	.	.	.	.	.	.	0.999994922950989	0.74766	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.6	1.6	0.22686	2.239000	0.42728	2.405000	0.32612	0.596000	0.33519	0.999000	0.42656	0.987000	0.30940	0.973000	0.55318	0.0:0.0:1.0:0.0	6.091	0.19219	314	0.87270	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.381	30065.86	352	chrX	55146247	.	G	C	30065.86	.	AC=16;AF=0.381;AN=42;BaseQRankSum=-1.033e+00;DP=8964;ExcessHet=20.9642;FS=0.691;InbreedingCoeff=-0.6153;MLEAC=16;MLEAF=0.381;MQ=60.00;MQRankSum=0.00;QD=4.83;ReadPosRankSum=-4.230e-01;SOR=0.755	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:415,78:493:99:0|1:55146247_G_C:1946,0,16982:55146247	5	0	16	0
chrX	55146252	55146252	-	T	exonic	FAM104B	.	frameshift insertion	FAM104B:NM_001166699:exon3:c.182_183insA:p.S61Rfs*13	.	.	390	569	526	3	34	566	0.318563	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4048	29505.39	352	chrX	55146252	.	A	AT,G	29505.39	.	AC=16,1;AF=0.381,0.024;AN=42;BaseQRankSum=1.83;DP=8656;ExcessHet=25.1139;FS=0.000;InbreedingCoeff=-0.6799;MLEAC=16,1;MLEAF=0.381,0.024;MQ=60.00;MQRankSum=0.00;QD=4.46;ReadPosRankSum=-5.690e-01;SOR=0.696	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:405,75,0:480:99:0|1:55146247_G_C:1880,0,16720,3099,16946,20045:55146247	4	0	16	0
chrX	55146254	55146254	T	C	exonic	FAM104B	.	nonsynonymous SNV	FAM104B:NM_001166699:exon3:c.A181G:p.S61G	.	.	431	15	1050	26	0	1102	0.973498	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09	T	0.18	B	0.062	B	0.023	N	1.000	N	1.445	L	0.62	T	-1.046	T	0.083	T	0.07	1.063	9.342	-0.917	-0.353	0.231	4.198	0.075	0.0041360361776	.	.	0	0	0	0	0	0	0	0	0.0095666	249	26028	rs1047037	9.142e-07	4.651e-05	1.362e-06	0	1.191e-06	0	0	.	.	0	0	0	0	0	0	1.191e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	0.53172	D	0.115	0.36630	T	0.18	0.29046	B	0.013	0.26930	B	0.022656	0.26593	N	0.266251	1	0.08975	N	1.125	0.28843	L	0.62	0.53302	T	-3.25	0.65972	D	0.165	0.17691	-1.0460	0.15534	T	0.083	0.32556	T	10	0.08577216	0.14513	T	0.004136	0.09900	T	0.075	0.21907	0.066	0.00312	0.141422826196	0.13715	0.08695167493373998	0.08629	0.0811463258042	0.09130	0.299347400665	0.10303	T	0.051814	0.28986	T	-0.403148	0.02207	T	-0.816871	0.01517	T	0.062755441338216	0.07595	T	0.529347	0.19916	T	0.15294263	0.34692	0.18436645	0.41484	0.15294263	0.34692	0.18436645	0.41484	-4.147	0.26024	T	.	.	0.074	0.04932	B	.;.;.;.;.	.;.;.;.;.	0.505601	0.08746	5.521	0.88816084291515585	0.18278	0.01111	0.04064	N	AEFDGBI	.	.	.	.	.	.	.	.	.	0.999988486351367	0.51787	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.59	-0.917	0.09952	0.342000	0.19669	0.018000	0.13546	0.587000	0.30956	0.001000	0.13787	0.000000	0.08366	0.925000	0.46118	0.0:0.4736:0.0:0.5264	4.198	0.09911	314	0.87270	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.5238	144900.84	345	chrX	55146254	.	T	C	144900.84	.	AC=22;AF=0.524;AN=42;BaseQRankSum=-1.022e+00;DP=8618;ExcessHet=43.6797;FS=5.118;InbreedingCoeff=-0.9301;MLEAC=22;MLEAF=0.524;MQ=60.00;MQRankSum=0.00;QD=18.14;ReadPosRankSum=-9.060e-01;SOR=0.494	GT:AD:DP:GQ:PL	0/1:209,255:464:99:7064,0,6377	0	1	20	0
chrX	55146256	55146256	G	-	exonic	FAM104B	.	frameshift deletion	FAM104B:NM_001166699:exon3:c.179delC:p.A60Efs*8	.	.	387	620	513	2	0	517	0.294252	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.381	27841.82	280	chrX	55146255	.	TG	T	27841.82	.	AC=16;AF=0.381;AN=42;BaseQRankSum=0.845;DP=7945;ExcessHet=20.9642;FS=0.000;InbreedingCoeff=-0.6154;MLEAC=16;MLEAF=0.381;MQ=60.00;MQRankSum=0.00;QD=4.80;ReadPosRankSum=-9.670e-01;SOR=0.696	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:397,71:468:99:0|1:55146247_G_C:1786,0,16444:55146247	5	0	16	0
chrX	55146256	55146256	G	0	exonic	FAM104B	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.381	408.28	280	chrX	55146256	.	G	*,T	408.28	.	AC=15,1;AF=0.357,0.024;AN=42;BaseQRankSum=-7.340e-01;DP=7936;ExcessHet=20.9642;FS=0.000;InbreedingCoeff=-0.6154;MLEAC=15,1;MLEAF=0.357,0.024;MQ=60.00;MQRankSum=0.00;QD=0.07;ReadPosRankSum=-1.616e+00;SOR=0.718	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:397,71,0:468:99:0|1:55146247_G_C:1786,0,16444,2981,16658,19639:55146247	5	0	15	0
chrX	55146256	55146256	G	T	exonic	FAM104B	.	nonsynonymous SNV	FAM104B:NM_001166699:exon3:c.C179A:p.A60E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.33	T	0.712	P	0.402	B	0.061	U	1.000	N	1.04	L	0.84	T	-1.050	T	0.077	T	0.217	0.319	5.727	-0.582	-0.288	-0.780	2.532	0.029	0.00436554593426	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.117	0.28271	T	0.012	0.63918	D	0.712	0.42110	P	0.116	0.44547	B	0.061012	0.22205	U	0.310110	1	0.08975	N	1.295	0.32453	L	0.84	0.47477	T	-2.3	0.51157	N	0.257	0.29313	-1.0498	0.14453	T	0.077	0.30828	T	10	0.053805858	0.05630	T	0.004366	0.10624	T	0.029	0.06676	0.355	0.35571	0.156986980423	0.15292	0.24595024861261647	0.24509	0.191270352614	0.21451	0.305318623781	0.11200	T	0.047192	0.27649	T	-0.370384	0.03574	T	-0.769807	0.02774	T	0.165286540985107	0.18253	T	0.779322	0.41328	T	0.17303388	0.38027	0.2548788	0.51160	0.17303388	0.38027	0.2548788	0.51160	-2.801	0.10719	T	.	.	0.213	0.44174	B	.;.;.;.;.	.;.;.;.;.	0.380615	0.07526	4.173	0.39602496394885089	0.02743	0.01150	0.04159	N	AEFDGBI	.	.	.	.	.	.	.	.	.	0.999987547343258	0.51787	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.6	-0.582	0.11122	-0.412000	0.07197	-3.618000	0.02653	-0.220000	0.07995	0.000000	0.06391	0.000000	0.08366	0.900000	0.43643	0.2511:0.3045:0.4444:0.0	2.532	0.04420	314	0.87270	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.381	408.28	280	chrX	55146256	.	G	*,T	408.28	.	AC=15,1;AF=0.357,0.024;AN=42;BaseQRankSum=-7.340e-01;DP=7936;ExcessHet=20.9642;FS=0.000;InbreedingCoeff=-0.6154;MLEAC=15,1;MLEAF=0.357,0.024;MQ=60.00;MQRankSum=0.00;QD=0.07;ReadPosRankSum=-1.616e+00;SOR=0.718	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:397,71,0:468:99:0|1:55146247_G_C:1786,0,16444,2981,16658,19639:55146247	5	0	15	0
chrX	55146275	55146275	T	G	exonic	FAM104B	.	nonsynonymous SNV	FAM104B:NM_001166699:exon3:c.A160C:p.I54L	.	.	427	21	1052	22	0	1096	0.963093	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.127	B	0.271	B	0.153	U	1.000	N	1.495	L	0.27	T	-0.863	T	0.155	T	0.217	0.481	6.608	-1.26	-0.432	0.511	4.529	0.098	0.0118030854457	.	.	1.142e-05	0	0	0	0	2.088e-05	0	0	0.0196828	3043	154602	rs1047034	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.051	0.47828	T	0.105	0.26966	B	0.068	0.39904	B	0.152569	0.17919	U	0.451659	1	0.08975	N	1.955	0.52871	M	0.27	0.59176	T	-1.83	0.45042	N	0.551	0.57690	-0.8632	0.51032	T	0.155	0.48687	T	10	0.1871016	0.34206	T	0.011803	0.29782	T	0.098	0.28162	0.189	0.09907	0.0884992946249	0.08302	0.12338101866159702	0.12264	0.0928677804986	0.10486	0.449103206396	0.31821	T	0.163737	0.50891	T	-0.214808	0.18708	T	-0.546333	0.17678	T	0.224603921175003	0.21691	T	0.758424	0.38228	T	0.50850886	0.67592	0.29124478	0.55149	0.50850886	0.67593	0.29124478	0.55148	-2.996	0.10138	T	.	.	0.123	0.25689	B	.;.;.;.;.	.;.;.;.;.	1.130701	0.15173	11.64	0.8192711395344332	0.13930	0.34538	0.25091	N	AEFDGBI	.	.	.	.	.	.	.	.	.	0.999989777015944	0.51787	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.59	-1.26	0.08892	0.742000	0.25884	-6.329000	0.01429	-0.214000	0.08267	1.000000	0.71638	0.000000	0.08366	0.065000	0.16320	0.0:0.5197:0.0:0.4803	4.529	0.11402	314	0.87270	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.5238	145728.82	278	chrX	55146275	.	T	G	145728.82	.	AC=22;AF=0.524;AN=42;BaseQRankSum=-5.160e-01;DP=6743;ExcessHet=43.6797;FS=12.602;InbreedingCoeff=-0.9267;MLEAC=22;MLEAF=0.524;MQ=60.00;MQRankSum=0.00;QD=23.59;ReadPosRankSum=-3.687e+00;SOR=0.530	GT:AD:DP:GQ:PL	0/1:123,240:363:99:8195,0,2916	0	1	20	0
chrX	55146283	55146283	C	T	exonic	FAM104B	.	nonsynonymous SNV	FAM104B:NM_001166699:exon3:c.G152A:p.S51N	.	.	397	623	499	3	0	505	0.288407	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.21	T	0.97	D	0.76	P	0.060	U	1.000	N	1.04	L	0.58	T	-0.992	T	0.137	T	0.108	1.384	10.56	0.279	-0.048	0.205	4.875	0.056	0.0110921071969	.	.	.	.	.	.	.	.	.	.	0.0152528	397	26028	rs5018688	0	9.106e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.032	0.59928	D	0.093	0.43913	T	0.393	0.56973	B	0.383	0.56425	B	0.059846	0.22293	U	0.378995	1	0.08975	N	1.89	0.50145	L	0.58	0.54149	T	-1.28	0.38924	N	0.403	0.45237	-0.9915	0.32218	T	0.137	0.45260	T	10	0.1055212	0.19508	T	0.011092	0.28353	T	0.056	0.15993	0.195	0.10705	0.117506650769	0.11410	0.13308873038305813	0.13232	0.421847818605	0.42694	0.421121031046	0.27990	T	0.02108	0.16480	T	-0.332179	0.05948	T	-0.714929	0.05044	T	0.244155928492546	0.22609	T	0.533147	0.22079	T	0.27807146	0.50863	0.22633299	0.47608	0.27807146	0.50863	0.22633299	0.47607	-4.287	0.28968	T	.	.	0.120	0.24733	B	.;.;.;.;.	.;.;.;.;.	0.299513	0.06751	3.267	0.94323433060273598	0.24650	0.08620	0.14524	N	AEFDGBI	.	.	.	.	.	.	.	.	.	0.999986223079379	0.51787	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.6	0.279	0.14929	0.332000	0.19494	-0.521000	0.08690	0.530000	0.24713	0.996000	0.39380	0.000000	0.08366	0.128000	0.19490	0.5333:0.4667:0.0:0.0	4.875	0.13009	314	0.87270	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.375	15609.31	256	chrX	55146283	.	C	T	15609.31	.	AC=15;AF=0.375;AN=40;BaseQRankSum=-6.090e-01;DP=5771;ExcessHet=17.4423;FS=2.201;InbreedingCoeff=-0.6051;MLEAC=16;MLEAF=0.400;MQ=60.00;MQRankSum=0.00;QD=3.81;ReadPosRankSum=-1.177e+00;SOR=0.788	GT:AD:DP:GQ:PL	0/1:228,90:318:99:1906,0,7665	5	0	15	1
chrX	67546547	67546547	-	GGC	exonic	AR	.	nonframeshift insertion	AR:NM_000044:exon1:c.1401_1402insGGC:p.G473_E474insG	Androgen insensitivity, X-linked recessive;Androgen insensitivity, partial, with or without breast cancer, X-linked recessive;Hypospadias 1, X-linked, X-linked recessive;Spinal and bulbar muscular atrophy of Kennedy, X-linked recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3571	7759.68	29	chrX	67546514	.	TGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGC	TGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGC,TGGCGGCGGCGGCGGCGGCGGC,TGGCGGCGGCGGCGGCGGCGGCGGCGGC,TGGCGGCGGCGGCGGC,TGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGC,T	7759.68	.	AC=7,3,1,1,1,2;AF=0.167,0.071,0.024,0.024,0.024,0.048;AN=42;BaseQRankSum=0.260;DP=1002;ExcessHet=0.0088;FS=1.981;InbreedingCoeff=0.5150;MLEAC=7,3,1,1,1,2;MLEAF=0.167,0.071,0.024,0.024,0.024,0.048;MQ=60.00;MQRankSum=0.00;QD=31.67;ReadPosRankSum=1.01;SOR=0.818	GT:AD:DP:GQ:PGT:PID:PL:PS	2/2:0,0,51,0,0,0,0:51:99:.:.:2251,2251,2251,158,158,0,2251,2251,158,2251,2251,2251,158,2251,2251,2251,2251,158,2251,2251,2251,2251,2251,158,2251,2251,2251,2251	11	3	1	0
chrX	67546536	67546547	GGCGGCGGCGGC	-	exonic	AR	.	nonframeshift deletion	AR:NM_000044:exon1:c.1390_1401del:p.G470_G473del	Androgen insensitivity, X-linked recessive;Androgen insensitivity, partial, with or without breast cancer, X-linked recessive;Hypospadias 1, X-linked, X-linked recessive;Spinal and bulbar muscular atrophy of Kennedy, X-linked recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3571	7759.68	29	chrX	67546514	.	TGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGC	TGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGC,TGGCGGCGGCGGCGGCGGCGGC,TGGCGGCGGCGGCGGCGGCGGCGGCGGC,TGGCGGCGGCGGCGGC,TGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGC,T	7759.68	.	AC=7,3,1,1,1,2;AF=0.167,0.071,0.024,0.024,0.024,0.048;AN=42;BaseQRankSum=0.260;DP=1002;ExcessHet=0.0088;FS=1.981;InbreedingCoeff=0.5150;MLEAC=7,3,1,1,1,2;MLEAF=0.167,0.071,0.024,0.024,0.024,0.048;MQ=60.00;MQRankSum=0.00;QD=31.67;ReadPosRankSum=1.01;SOR=0.818	GT:AD:DP:GQ:PGT:PID:PL:PS	2/2:0,0,51,0,0,0,0:51:99:.:.:2251,2251,2251,158,158,0,2251,2251,158,2251,2251,2251,158,2251,2251,2251,2251,158,2251,2251,2251,2251,2251,158,2251,2251,2251,2251	11	3	1	0
chrX	67546542	67546547	GGCGGC	-	exonic	AR	.	nonframeshift deletion	AR:NM_000044:exon1:c.1396_1401del:p.G472_G473del	Androgen insensitivity, X-linked recessive;Androgen insensitivity, partial, with or without breast cancer, X-linked recessive;Hypospadias 1, X-linked, X-linked recessive;Spinal and bulbar muscular atrophy of Kennedy, X-linked recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3571	7759.68	29	chrX	67546514	.	TGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGC	TGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGC,TGGCGGCGGCGGCGGCGGCGGC,TGGCGGCGGCGGCGGCGGCGGCGGCGGC,TGGCGGCGGCGGCGGC,TGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGC,T	7759.68	.	AC=7,3,1,1,1,2;AF=0.167,0.071,0.024,0.024,0.024,0.048;AN=42;BaseQRankSum=0.260;DP=1002;ExcessHet=0.0088;FS=1.981;InbreedingCoeff=0.5150;MLEAC=7,3,1,1,1,2;MLEAF=0.167,0.071,0.024,0.024,0.024,0.048;MQ=60.00;MQRankSum=0.00;QD=31.67;ReadPosRankSum=1.01;SOR=0.818	GT:AD:DP:GQ:PGT:PID:PL:PS	2/2:0,0,51,0,0,0,0:51:99:.:.:2251,2251,2251,158,158,0,2251,2251,158,2251,2251,2251,158,2251,2251,2251,2251,158,2251,2251,2251,2251,2251,158,2251,2251,2251,2251	11	3	1	0
chrX	67546530	67546547	GGCGGCGGCGGCGGCGGC	-	exonic	AR	.	nonframeshift deletion	AR:NM_000044:exon1:c.1384_1401del:p.G468_G473del	Androgen insensitivity, X-linked recessive;Androgen insensitivity, partial, with or without breast cancer, X-linked recessive;Hypospadias 1, X-linked, X-linked recessive;Spinal and bulbar muscular atrophy of Kennedy, X-linked recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3571	7759.68	29	chrX	67546514	.	TGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGC	TGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGC,TGGCGGCGGCGGCGGCGGCGGC,TGGCGGCGGCGGCGGCGGCGGCGGCGGC,TGGCGGCGGCGGCGGC,TGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGC,T	7759.68	.	AC=7,3,1,1,1,2;AF=0.167,0.071,0.024,0.024,0.024,0.048;AN=42;BaseQRankSum=0.260;DP=1002;ExcessHet=0.0088;FS=1.981;InbreedingCoeff=0.5150;MLEAC=7,3,1,1,1,2;MLEAF=0.167,0.071,0.024,0.024,0.024,0.048;MQ=60.00;MQRankSum=0.00;QD=31.67;ReadPosRankSum=1.01;SOR=0.818	GT:AD:DP:GQ:PGT:PID:PL:PS	2/2:0,0,51,0,0,0,0:51:99:.:.:2251,2251,2251,158,158,0,2251,2251,158,2251,2251,2251,158,2251,2251,2251,2251,158,2251,2251,2251,2251,2251,158,2251,2251,2251,2251	11	3	1	0
chrX	67546547	67546547	-	GGCGGC	exonic	AR	.	nonframeshift insertion	AR:NM_000044:exon1:c.1401_1402insGGCGGC:p.G473_E474insGG	Androgen insensitivity, X-linked recessive;Androgen insensitivity, partial, with or without breast cancer, X-linked recessive;Hypospadias 1, X-linked, X-linked recessive;Spinal and bulbar muscular atrophy of Kennedy, X-linked recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3571	7759.68	29	chrX	67546514	.	TGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGC	TGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGC,TGGCGGCGGCGGCGGCGGCGGC,TGGCGGCGGCGGCGGCGGCGGCGGCGGC,TGGCGGCGGCGGCGGC,TGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGC,T	7759.68	.	AC=7,3,1,1,1,2;AF=0.167,0.071,0.024,0.024,0.024,0.048;AN=42;BaseQRankSum=0.260;DP=1002;ExcessHet=0.0088;FS=1.981;InbreedingCoeff=0.5150;MLEAC=7,3,1,1,1,2;MLEAF=0.167,0.071,0.024,0.024,0.024,0.048;MQ=60.00;MQRankSum=0.00;QD=31.67;ReadPosRankSum=1.01;SOR=0.818	GT:AD:DP:GQ:PGT:PID:PL:PS	2/2:0,0,51,0,0,0,0:51:99:.:.:2251,2251,2251,158,158,0,2251,2251,158,2251,2251,2251,158,2251,2251,2251,2251,158,2251,2251,2251,2251,2251,158,2251,2251,2251,2251	11	3	1	0
chrX	67546515	67546547	GGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGC	-	exonic	AR	.	nonframeshift deletion	AR:NM_000044:exon1:c.1369_1401del:p.G463_G473del	Androgen insensitivity, X-linked recessive;Androgen insensitivity, partial, with or without breast cancer, X-linked recessive;Hypospadias 1, X-linked, X-linked recessive;Spinal and bulbar muscular atrophy of Kennedy, X-linked recessive	.	.	.	.	.	.	.	.	.	.	1337344	Androgen_resistance_syndrome|Kennedy_disease|AR-related_disorder	MONDO:MONDO:0019154,MedGen:C0039585,OMIM:300068,Orphanet:754,Orphanet:99429|MONDO:MONDO:0010735,MedGen:C1839259,OMIM:313200,Orphanet:481|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1186626054	0.0006	0.0005	0.0005	0.0007	0.0061	0.0005	0.0005	0.0030	0.0022	0.0025	0.0030	0.0014	0.0004	9.153e-05	0.0061	0.0003	0.0017	0.0010	0.0008	0.0006	0.0007	0.0008	0.0022	0.0006	0.0006	0.0014	0.0011	0.0013	0	0.0022	0.0009	0	0	0	0.0003	0.0009	0.0013	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3571	7759.68	29	chrX	67546514	.	TGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGC	TGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGC,TGGCGGCGGCGGCGGCGGCGGC,TGGCGGCGGCGGCGGCGGCGGCGGCGGC,TGGCGGCGGCGGCGGC,TGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGC,T	7759.68	.	AC=7,3,1,1,1,2;AF=0.167,0.071,0.024,0.024,0.024,0.048;AN=42;BaseQRankSum=0.260;DP=1002;ExcessHet=0.0088;FS=1.981;InbreedingCoeff=0.5150;MLEAC=7,3,1,1,1,2;MLEAF=0.167,0.071,0.024,0.024,0.024,0.048;MQ=60.00;MQRankSum=0.00;QD=31.67;ReadPosRankSum=1.01;SOR=0.818	GT:AD:DP:GQ:PGT:PID:PL:PS	2/2:0,0,51,0,0,0,0:51:99:.:.:2251,2251,2251,158,158,0,2251,2251,158,2251,2251,2251,158,2251,2251,2251,2251,158,2251,2251,2251,2251,2251,158,2251,2251,2251,2251	11	3	1	0
chrX	69505338	69505338	-	CTG	exonic	FAM155B	.	nonframeshift insertion	FAM155B:NM_015686:exon1:c.56_57insCTG:p.C24_W25insC,	.	.	412	1026	81	1	2	85	0.0388759	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	1287.01	86	chrX	69505335	.	TCTG	T,TCTGCTG	1287.01	.	AC=6,1;AF=0.143,0.024;AN=42;BaseQRankSum=8.000e-03;DP=1050;ExcessHet=2.5830;FS=0.000;InbreedingCoeff=-0.1975;MLEAC=6,1;MLEAF=0.143,0.024;MQ=60.00;MQRankSum=0.00;QD=2.52;ReadPosRankSum=-1.560e-01;SOR=0.726	GT:AD:DP:GQ:PL	0/1:97,8,0:105:41:41,0,4026,333,4050,4383	14	0	6	0
chrX	91436668	91436668	G	A	exonic	PABPC5	.	nonsynonymous SNV	PABPC5:NM_080832:exon2:c.G1091A:p.R364H,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.942	P	0.401	B	0.000	D	1.000	D	1.27	L	2.32	T	-1.121	T	0.036	T	0.413	0.787	8.148	3.28	1.107	9.240	9.143	0.248	0.0212191272092	.	.	0	0	0	0	0	0	0	0	3.84e-05	1	26028	rs751297464	3.647e-06	4.553e-06	2.724e-06	5.512e-06	1.85e-05	8.5e-07	5.8e-07	4e-07	1.5e-07	0	0	0	0	0	0	2.376e-06	2.174e-05	1.85e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.127	0.54159	T	0.942	0.52977	P	0.401	0.44513	B	0.000000	0.84330	D	0.000000	0.999933	0.51612	D	0.525	0.13617	N	2.32	0.16640	T	-3.9	0.74821	D	0.398	0.43899	-1.1212	0.02257	T	0.036	0.15553	T	10	0.50394374	0.61709	D	0.021219	0.43954	T	0.248	0.55615	0.66	0.79791	0.709873008806	0.70733	0.6437247062245874	0.64307	0.80591612175	0.66462	0.670064151287	0.62846	T	0.137415	0.47034	T	-0.18143	0.23522	T	-0.498388	0.22515	T	0.980539083480835	0.73411	D	0.967603	0.88252	D	0.34832907	0.56936	0.2814729	0.54129	0.34832907	0.56936	0.2814729	0.54128	-6.726	0.52006	T	.	.	0.129	0.27732	B	.;.	.;.	3.834041	0.55435	23.6	0.98822642594000976	0.46819	0.97533	0.75370	D	AEFBI	.	.	.	.	.	.	.	.	.	0.997238842572531	0.35404	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.14	3.28	0.36691	7.850000	0.85220	4.526000	0.43706	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.877000	0.41881	0.112:0.0:0.888:0.0	9.143	0.36078	949	0.11373	RNA recognition motif domain|RNA recognition motif domain|RNA recognition motif domain;RNA recognition motif domain|RNA recognition motif domain|RNA recognition motif domain|RNA recognition motif domain, eukaryote	.	.	.	.	.	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	0.175	871.64	124	chrX	91436668	.	G	A	871.64	.	AC=7;AF=0.175;AN=40;BaseQRankSum=-3.827e+00;DP=2002;ExcessHet=2.5830;FS=160.143;InbreedingCoeff=-0.2175;MLEAC=7;MLEAF=0.175;MQ=60.00;MQRankSum=0.00;QD=0.97;ReadPosRankSum=1.19;SOR=11.189	GT:AD:DP:GQ:PL	0/1:132,31:163:78:78,0,2651	13	0	7	1
chrX	100691153	100691153	C	T	exonic	SYTL4	.	nonsynonymous SNV	SYTL4:NM_001174068:exon6:c.G596A:p.S199N	.	.	436	1084	1	1	0	3	0.00138185	.	.	2374759	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	.	.	0.698	P	0.218	B	0.095	N	0.999	N	1.245	L	2.05	T	-0.989	T	0.141	T	0.042	2.067	12.87	3.49	1.139	1.340	6.786	0.034	0.0290453671406	.	.	3.221e-05	0	0	0	0	0	0.0047	0	2.59e-05	4	154602	rs765230684	4.837e-05	4.826e-05	3.812e-05	6.92e-05	0.0007	3.772e-05	3.421e-05	0.0005	0.0004	0	0	0	0.0007	2.476e-05	0	2.616e-05	8.691e-05	7.504e-05	2.681e-05	2.612e-05	3.856e-05	0	0.0006	7.13e-06	2.98e-06	0.0001	4.137e-05	0	0	0	0	0.0006	0	0	1.88e-05	0	0	0.197	0.25255	T	0.206	0.27056	T	0.698	0.41805	P	0.218	0.37679	B	0.094701	0.20160	N	0.595021	0.999755	0.21565	N	1.12	0.28775	L	2.02	0.64630	T	-1.02	0.26843	N	0.082	0.06854	-0.9887	0.32928	T	0.141	0.46202	T	9	0.0532054	0.05475	T	0.029045	0.51626	D	0.034	0.08419	0.2	0.11384	0.417208245017	0.41340	0.32737121445623707	0.32650	.	.	0.488585352898	0.37242	T	0.077757	0.35731	T	-0.502643	0.00552	T	-0.744453	0.03706	T	0.034040480140326	0.02645	T	0.585041	0.21854	T	0.20633006	0.42804	0.15200792	0.35782	0.20633006	0.42804	0.15200792	0.35781	-4.152	0.30428	T	.	.	0.082	0.11845	B	.;.;.;.	.;.;.;.	1.657499	0.21138	15.07	0.98114386789171948	0.38383	0.70147	0.34471	D	AEFGI	.	.	.	.	.	.	.	.	.	0.986608683360954	0.31093	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.28	3.49	0.39065	1.359000	0.33717	1.721000	0.28260	0.549000	0.26987	0.996000	0.39380	0.920000	0.28304	0.944000	0.48669	0.0:0.7859:0.0:0.2141	6.786	0.22858	65	0.97253	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1169.98	40	chrX	100691153	.	C	T	1169.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.230e+00;DP=808;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.83;ReadPosRankSum=-1.408e+00;SOR=0.767	GT:AD:DP:GQ:PL	0/1:54,54:108:99:1184,0,1271	20	0	1	0
chrX	101883596	101883596	G	A	exonic	ZMAT1	.	nonsynonymous SNV	ZMAT1:NM_001011657:exon7:c.C1831T:p.R611C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.953	D	0.001	D	1.000	D	2.125	M	2.05	T	-0.793	T	0.171	T	0.474	3.547	18.09	4.27	2.359	4.903	13.526	0.160	0.229268478221	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.826e-06	1.821e-06	2.725e-06	0	0.0002	3e-07	1.1e-07	.	.	0	0	0	3.315e-05	0	0.0002	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	.	.	.	.	.	.	0.000647	0.42656	D	0.083072	0.999381	0.47544	D	.	.	.	2.05	0.20664	T	-4.67	0.79571	D	0.28	0.31702	-0.7927	0.55572	T	0.171	0.51165	T	10	0.2957334	0.47141	T	0.229268	0.88176	D	0.160	0.41473	0.224	0.14813	0.256283259241	0.25257	0.16742256333870248	0.16662	0.476822862275	0.46802	0.312038600445	0.12214	T	.	.	.	-0.14706	0.28772	T	-0.449018	0.27806	T	0.994978845119476	0.86616	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.156	0.38281	B	.;.	.;.	4.296409	0.65560	24.8	0.99924105218931036	0.98980	0.93032	0.57154	D	AEFI	.	.	.	.	.	.	.	.	.	0.998494700696147	0.37071	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.27	4.27	0.50009	3.969000	0.56523	6.267000	0.55357	0.667000	0.69007	0.998000	0.41325	1.000000	0.68203	0.965000	0.52897	0.0:0.0:1.0:0.0	13.526	0.61055	32	0.98147	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1648.98	38	chrX	101883596	.	G	A	1648.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.73;DP=895;ExcessHet=0.0000;FS=2.104;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.22;ReadPosRankSum=-2.410e-01;SOR=0.507	GT:AD:DP:GQ:PL	0/1:78,69:147:99:1663,0,1765	20	0	1	0
chrX	119086950	119086950	G	A	exonic	KIAA1210	.	nonsynonymous SNV	KIAA1210:NM_020721:exon11:c.C4280T:p.T1427I,	.	.	436	1085	1	0	0	1	0.000460617	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.18	T	0.762	P	0.391	B	.	.	1.000	N	1.78	L	2.7	T	-1.044	T	0.034	T	0.271	2.266	13.54	0.646	-0.118	0.139	4.513	0.014	0.0106453331282	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.049	0.39820	D	0.013	0.63109	D	0.762	0.43602	P	0.391	0.44178	B	.	.	.	.	1	0.08975	N	1.385	0.34509	L	2.7	0.12162	T	-1.94	0.45042	N	0.12	0.11054	-1.0438	0.16177	T	0.034	0.14683	T	9	0.10307726	0.18929	T	0.010645	0.27409	T	0.014	0.01968	0.219	0.14078	0.137902524267	0.13322	0.02963258081331895	0.02912	0.208249356644	0.23294	0.303659915924	0.10950	T	0.008433	0.07741	T	-0.381864	0.03032	T	-0.786298	0.02268	T	0.460189074277878	0.31172	T	0.427757	0.11540	T	0.058593605	0.11805	0.09349214	0.22084	0.058593605	0.11804	0.09349214	0.22083	-4.469	0.30481	T	.	.	0.276	0.50961	B	.	.	0.914445	0.12892	9.401	0.99240118394739707	0.56501	0.06349	0.12348	N	AEFBI	.	.	.	.	.	.	.	.	.	0.26271808742662	0.18808	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.72	0.646	0.16961	0.264000	0.18264	0.237000	0.16261	-0.153000	0.12021	0.054000	0.21560	0.000000	0.08366	0.070000	0.16646	0.1733:0.0:0.5379:0.2888	4.513	0.11329	498	0.76166	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2310.98	76	chrX	119086950	.	G	A	2310.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.080e-01;DP=1015;ExcessHet=0.0000;FS=0.567;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.84;ReadPosRankSum=0.104;SOR=0.749	GT:AD:DP:GQ:PL	0/1:79,88:167:99:2325,0,2151	20	0	1	0
chrX	130385245	130385245	C	T	exonic	GPR119	.	nonsynonymous SNV	GPR119:NM_178471:exon1:c.G203A:p.S68N,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.31	T	0.0	B	0.001	B	0.295	N	1.000	N	1.4	L	1.16	T	-1.034	T	0.060	T	0.059	-0.839	0.577	0.776	0.131	-0.308	4.836	0.037	0.00421020863866	.	.	3.423e-05	0	0	0	0	6.257e-05	0	0	3.88e-05	6	154602	rs199564054	2.641e-05	2.641e-05	2.45e-05	3.027e-05	0.0034	1.853e-05	1.602e-05	0.0020	0.0016	0.0001	0	0	0	0	0.0034	9.501e-06	6.51e-05	1.847e-05	2.668e-05	2.61e-05	3.854e-05	0	1.878e-05	7.09e-06	2.97e-06	.	.	0	0	0	0	0	0	0.0092	1.878e-05	0	0	0.731	0.03799	T	0.597	0.08025	T	0.0	0.02946	B	0.001	0.04355	B	0.295458	0.14692	N	0.684653	0.999662	0.20745	N	1.205	0.30389	L	1.16	0.38073	T	-0.37	0.13226	N	0.088	0.06587	-1.0339	0.19205	T	0.060	0.24981	T	10	0.05345592	0.05539	T	0.00421	0.10153	T	0.037	0.09474	0.341	0.33302	0.604448947905	0.60128	0.155060939168576	0.15427	0.467719060389	0.46140	0.278213977814	0.07245	T	0.010617	0.09570	T	-0.620231	0.00110	T	-0.978403	0.00185	T	0.0161406354525494	0.00390	T	0.378362	0.09086	T	0.055616386	0.10834	0.07141733	0.15291	0.055616386	0.10833	0.07141733	0.15290	-4.199	0.26737	T	.	.	0.092	0.13597	B	.	.	0.364184	0.07365	3.988	0.79022574634206433	0.12556	0.06429	0.12434	N	AEFBI	.	.	.	.	.	.	.	.	.	0.0141150177831734	0.12555	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.06	0.776	0.17676	-0.498000	0.06502	-0.268000	0.10371	0.599000	0.40250	0.000000	0.06391	0.197000	0.23541	0.948000	0.49324	0.0:0.4343:0.2978:0.2679	4.836	0.12827	361	0.84870	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1942.98	33	chrX	130385245	.	C	T	1942.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-7.300e-01;DP=825;ExcessHet=0.0000;FS=4.392;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.06;ReadPosRankSum=0.318;SOR=0.755	GT:AD:DP:GQ:PL	0/1:55,66:121:99:1957,0,1562	20	0	1	0
chrX	135580144	135580144	G	C	exonic	INTS6L	.	nonsynonymous SNV	INTS6L:NM_001351603:exon15:c.G2365C:p.V789L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.18	T	0.741	P	0.621	P	0.000	D	0.998	D	2.095	M	1.12	T	-0.845	T	0.185	T	0.728	2.907	15.69	4.88	2.356	4.577	16.741	0.116	0.320721839563	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	9.106e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.082	0.33254	T	0.144	0.33109	T	0.054	0.22658	B	0.016	0.17743	B	0.000000	0.84330	D	0.000000	0.998439	0.44913	D	.	.	.	1.12	0.38718	T	-1.47	0.35991	N	0.585	0.60579	-0.8446	0.52338	T	0.185	0.53376	T	10	0.3336386	0.50551	T	0.320722	0.91466	D	0.116	0.32463	0.358	0.36060	0.707954595072	0.70541	0.7275652152813423	0.72700	1.18866698664	0.80215	0.648726463318	0.59806	T	0.054	0.29627	T	0.00945918	0.52950	T	-0.224189	0.52332	T	0.882806301116943	0.53294	D	0.539346	0.18229	T	0.6511502	0.75426	0.50532985	0.71408	0.6511502	0.75427	0.50532985	0.71409	-8.677	0.65596	D	.	.	0.978	0.90664	P	.;.	.;.	3.376911	0.46690	22.3	0.98498159316290479	0.42180	0.97707	0.76556	D	AEFGBI	.	.	.	.	.	.	.	.	.	0.999999042486774	0.74766	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.88	4.88	0.63131	4.677000	0.61324	5.234000	0.48040	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	16.741	0.85319	91	0.96221	INTS6/SAGE1/DDX26B/CT45, C-terminal;INTS6/SAGE1/DDX26B/CT45, C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.381	903.93	74	chrX	135580144	.	G	C	903.93	.	AC=16;AF=0.381;AN=42;BaseQRankSum=-1.040e+00;DP=1536;ExcessHet=20.9642;FS=227.873;InbreedingCoeff=-0.6099;MLEAC=16;MLEAF=0.381;MQ=60.00;MQRankSum=0.00;QD=0.90;ReadPosRankSum=0.503;SOR=12.634	GT:AD:DP:GQ:PL	0/1:58,30:96:90:90,0,890	5	0	16	0
chrX	135901671	135901671	C	T	exonic	SAGE1	.	nonsynonymous SNV	SAGE1:NM_001381902:exon3:c.C200T:p.S67L	.	.	425	1080	9	8	0	25	0.0114416	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.22	T	0.004	B	0.001	B	0.000	N	1.000	N	-0.46	N	1.54	T	-1.054	T	0.017	T	0.045	-2.283	0.004	-2.67	-0.837	-2.836	5.011	0.039	.	0.0059	0.00450331	0.0081	0.0012	0.0057	0	0.0077	0.0103	0.0049	0.0116	0.0072832	1126	154602	rs143643223	0.0086	0.0086	0.0085	0.0088	0.0108	0.0084	0.0084	0.0101	0.0098	0.0013	0.0052	0.0129	3.318e-05	0.0084	0.0085	0.0090	0.0082	0.0108	0.0057	0.0058	0.0057	0.0055	0.0112	0.0053	0.0051	0.0081	0.0070	0.0011	0.0029	0.0062	0.0124	0.0006	0.0070	0	0.0078	0.0066	0.0112	0.825	0.02921	T	1.0	0.01155	T	0.0	0.12183	B	0.0	0.04355	B	0.000172	0.48594	N	0.136757	1	0.08975	N	-0.55	0.02420	N	1.51	0.30937	T	0.26	0.04380	N	0.046	0.03392	-1.0543	0.13225	T	0.017	0.06807	T	10	0.0046487153	0.00097	T	.	.	.	0.039	0.10176	.	.	0.195762928549	0.19159	0.004705424765767787	0.00443	.	.	0.245691627264	0.03328	T	0.001809	0.01403	T	-0.942697	0.00000	T	-1.1175	0.00019	T	0.00177517519927836	0.00018	T	0.374163	0.08891	T	0.027866019	0.02039	0.047462787	0.06840	0.027866019	0.02039	0.047462787	0.06840	-4.531	0.31292	T	.	.	0.053	0.00254	B	.;.;.	.;.;.	-1.417698	0.00348	0.006	0.12362820853464315	0.00212	0.00013	0.00170	N	AEFI	.	.	.	.	.	.	.	.	.	3.18483205343529E-4	0.06498	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.33	-2.67	0.05703	-1.851000	0.01761	-20.000000	0.00162	-0.580000	0.04711	0.000000	0.06391	0.000000	0.08366	0.009000	0.08673	0.0:0.5721:0.0:0.4279	5.011	0.13656	151	0.94052	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	2489.98	33	chrX	135901671	.	C	T	2489.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.017;DP=906;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.45;MQRankSum=-2.184e+00;QD=11.80;ReadPosRankSum=0.870;SOR=0.716	GT:AD:DP:GQ:PL	0/1:106,105:211:99:2504,0,2443	20	0	1	0
chrX	141906385	141906385	C	0	exonic	MAGEC1	.	.	.	.	.	532	287	199	469	35	1172	0.664524	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7105	95143.29	325	chrX	141906385	.	C	G,*	95143.29	.	AC=25,3;AF=0.658,0.079;AN=38;BaseQRankSum=1.37;DP=4666;ExcessHet=0.0001;FS=0.000;InbreedingCoeff=0.6889;MLEAC=27,3;MLEAF=0.711,0.079;MQ=57.01;MQRankSum=-5.940e-01;QD=25.67;ReadPosRankSum=0.391;SOR=0.619	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:188,147,0:335:99:.:.:3565,0,4581,4126,5021,9146	4	11	2	2
chrX	149932557	149932557	C	T	exonic	EOLA2	.	nonsynonymous SNV	EOLA2:NM_001013845:exon5:c.G464A:p.G155E,	.	.	443	1063	11	5	0	21	0.00978109	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.68	T	0.022	B	0.012	B	0.498	N	1.000	N	-0.11	N	1.89	T	-0.971	T	0.016	T	0.056	-0.094	3.538	0.89	0.378	0.836	4.158	0.015	.	0.0046	.	0.0072	0.0019	0.0010	0	0.0260	0.0098	0.0142	0.0015	0.0002717	42	154602	rs62612596	0.0090	0.0090	0.0090	0.0089	0.0095	0.0088	0.0088	0.0093	0.0092	0.0012	0.0010	0.0062	0	0.0298	0.0061	0.0095	0.0081	0.0014	0.0065	0.0069	0.0066	0.0063	0.0088	0.0061	0.0060	0.0081	0.0078	0.0012	0.0104	0.0023	0.0042	0	0.0295	0.0143	0.0088	0.0035	0.0004	0.218	0.19090	T	0.355	0.17217	T	0.022	0.18677	B	0.012	0.16012	B	0.497974	0.11982	N	0.751280	1	0.19694	N	-0.075	0.04822	N	1.89	0.23688	T	0.7	0.02163	N	0.031	0.00770	-0.9708	0.37030	T	0.016	0.06664	T	10	0.0025525987	0.00039	T	.	.	.	0.015	0.02232	.	.	0.043077524339	0.03247	0.46391181987993696	0.46310	0.809143592112	0.66660	.	.	.	0.003343	0.02748	T	-0.849213	0.00003	T	-0.990416	0.00158	T	0.00112221236122483	0.00011	T	0.419458	0.11115	T	0.04656405	0.07814	0.097568035	0.23228	0.04656405	0.07814	0.097568035	0.23228	-3.266	0.13302	T	.	.	0.082	0.08948	B	.;.;.	.;.;.	0.825164	0.11966	8.525	0.88900545417983212	0.18347	0.01427	0.04807	N	AEFDGBCI	.	.	.	.	.	.	.	.	.	0.581531218472406	0.21575	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.35	0.89	0.18352	0.177000	0.16615	.	.	0.454000	0.21428	0.006000	0.17386	0.000000	0.08366	0.526000	0.29613	0.0:0.385:0.0:0.615	4.158	0.09735	484	0.77165	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	950.98	37	chrX	149932557	.	C	T	950.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=4.76;DP=765;ExcessHet=0.0000;FS=13.497;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=45.83;MQRankSum=0.981;QD=12.68;ReadPosRankSum=-6.620e-01;SOR=2.448	GT:AD:DP:GQ:PL	0/1:42,33:75:99:965,0,1136	20	0	1	0
chrX	153073262	153073262	T	G	exonic	PNMA6A	.	nonsynonymous SNV	PNMA6A:NM_032882:exon2:c.T200G:p.V67G,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	.	.	.	.	.	.	1.000	N	.	.	2.37	T	-1.031	T	0.044	T	0.397	2.490	14.29	1.99	1.077	0.503	5.511	0.025	0.0369201328504	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.725e-05	0.0002	5.377e-05	0	8.781e-05	1.997e-05	1.559e-05	2.054e-05	1.391e-05	8.781e-05	8.319e-05	0	0	0	0	4.466e-05	5.765e-05	0	0	3.293e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.001	0.78490	D	0.001	0.83351	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	2.33	0.16492	T	-6.52	0.91695	D	0.504	0.53620	-1.0739	0.08577	T	0.085	0.33269	T	8	0.5577507	0.64614	D	0.355273	0.92373	D	0.234	0.53644	0.66	0.79791	0.154104182512	0.14974	0.44074457449472765	0.43991	.	.	0.797610878944	0.81599	T	0.07346	0.34703	T	-0.0376367	0.46298	T	-0.291839	0.45580	T	0.879471444823567	0.52944	D	0.262774	0.04248	T	0.09392669	0.22070	0.15312491	0.35995	0.09392669	0.22070	0.15312491	0.35994	-10.718	0.78089	D	.	.	0.519	0.65421	A	.	.	2.561390	0.33175	19.26	0.9900846234778935	0.50314	0.00385	0.01942	N	AEFI	.	.	.	.	.	.	.	.	.	1.28807437351111E-6	0.01202	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.14	1.14	0.19817	-0.168000	0.09914	.	.	0.467000	0.21759	0.000000	0.06391	0.041000	0.21590	0.110000	0.18741	0.0:0.0:0.0:1.0	4.200	0.09923	77	0.96778	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.1154	49.97	6	chrX	153073262	.	T	G	49.97	.	AC=3;AF=0.115;AN=26;BaseQRankSum=-5.570e-01;DP=168;ExcessHet=0.5115;FS=0.000;InbreedingCoeff=-0.1923;MLEAC=4;MLEAF=0.154;MQ=27.00;MQRankSum=0.00;QD=5.00;ReadPosRankSum=0.00;SOR=0.016	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:8,2:10:20:0|1:153073262_T_G:20,0,299:153073262	10	0	3	8
chrX	154030377	154030377	C	G	exonic	MECP2	.	nonsynonymous SNV	MECP2:NM_001110792:exon3:c.G1487C:p.R496T	Encephalopathy, neonatal severe, X-linked recessive;Mental retardation, X-linked syndromic, Lubs type, X-linked recessive;Mental retardation, X-linked, syndromic 13, X-linked recessive;Rett syndrome, X-linked dominant;Rett syndrome, atypical, X-linked dominant;Rett syndrome, preserved speech variant, X-linked dominant	.	0	1521	0	1	0	2	0.00065703	.	.	153215	Severe_neonatal-onset_encephalopathy_with_microcephaly|not_provided|Rett_syndrome|not_specified	MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673,Orphanet:209370|MedGen:C3661900|MONDO:MONDO:0010726,MedGen:C0035372,OMIM:312750,Orphanet:3095,Orphanet:778|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.06	T	0.936	P	0.556	P	0.000	D	1.000	D	0.695	N	-2.94	D	0.461	D	0.677	D	0.829	2.227	13.40	5.8	2.438	3.334	17.642	0.564	0.880722018099	.	.	5.699e-05	0	0	0	0	0.0001	0	0	3.88e-05	6	154602	rs267608370	2.55e-05	2.549e-05	2.314e-05	3.025e-05	0.0041	1.768e-05	1.522e-05	0.0026	0.0022	0	0	0	0	0	0.0041	8.312e-06	4.339e-05	3.694e-05	1.789e-05	1.741e-05	2.569e-05	0	1.884e-05	2.97e-06	1.11e-06	.	.	0	0	0	0.0004	0	0	0	1.884e-05	0	0	0.012	0.54683	D	0.027	0.56640	D	0.895	0.52359	P	0.354	0.49411	B	0.000035	0.55875	D	0.154880	0.997443	0.43893	D	0.975	0.24501	L	-2.95	0.91903	D	-0.24	0.10833	N	0.459	0.67822	0.461	0.89990	D	0.677	0.88833	D	10	0.5396615	0.63647	D	0.880722	0.99091	D	0.564	0.82175	0.387	0.40788	0.995953951013	0.99590	0.3654367085597142	0.36457	.	.	0.773397326469	0.77933	T	0.45088	0.79182	T	0.0434786	0.57498	T	-0.0309137	0.68308	D	0.0793465094294269	0.09902	T	0.90311	0.66064	D	0.27841297	0.50895	0.30892062	0.56908	0.3740478	0.58882	0.3410407	0.59848	-2.822	0.08945	T	.	.	0.790	0.76819	P	.;.	.;.	3.782314	0.54387	23.5	0.93242359469472502	0.22928	0.90159	0.51118	D	AEFDBI	.	.	.	.	.	.	.	.	.	0.999999231463024	0.74766	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.8	5.8	0.92081	3.383000	0.52206	7.430000	0.58785	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:1.0:0.0:0.0	17.642	0.88040	69	0.97055	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0.02381	5052.98	34	chrX	154030377	.	C	G	5052.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.790e-01;DP=1159;ExcessHet=0.0000;FS=1.108;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.01;ReadPosRankSum=0.609;SOR=0.590	GT:AD:DP:GQ:PL	0/1:240,219:459:99:5067,0,5777	20	0	1	0
chrX	154556314	154556314	G	A	exonic	IKBKG	.	nonsynonymous SNV	IKBKG:NM_001099856:exon3:c.G541A:p.D181N	Ectodermal dysplasia, hypohidrotic, with immune deficiency;Ectodermal, dysplasia, anhidrotic, lymphedema and immunodeficiency;Immunodeficiency 33, X-linked recessive;Immunodeficiency, isolated;Incontinentia pigmenti, X-linked dominant;Invasive pneumococcal disease, recurrent isolated, 2	.	284	1211	26	1	0	28	0.0114286	.	.	79126	Immunodeficiency_33|not_provided|Ectodermal_dysplasia_and_immunodeficiency_1	MONDO:MONDO:0010386,MedGen:C1970879,OMIM:300636,Orphanet:319605,Orphanet:319612|MedGen:C3661900|MONDO:MONDO:0020740,MedGen:C1846008,OMIM:300291,Orphanet:238468,Orphanet:98813	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.28	T	0.959	D	0.501	P	0.349	N	1.000	N	1.5	L	-0.75	T	0.204	D	0.789	D	0.049	1.516	11.02	4.4	1.929	2.388	11.865	0.189	0.224673559886	.	.	.	.	.	.	.	.	.	.	0.0001921	5	26028	rs179363896	0.0086	0.0072	0.0130	0.0002	0.0098	0.0084	0.0083	0.0094	0.0093	0.0009	0.0027	0.0057	0	0.0175	0.0068	0.0098	0.0102	0.0065	0.0071	0.0069	0.0086	0.0003	0.0110	0.0067	0.0065	0.0102	0.0099	0.0018	0	0.0029	0.0069	0	0.0118	0.0057	0.0110	0.0070	0.0053	0.051	0.39334	T	0.1	0.66756	T	0.959	0.55135	D	0.501	0.47677	P	0.348836	0.13848	N	0.711988	0.99991	0.19781	N	1.245	0.31408	L	-1.65	0.95145	D	-1.33	0.36385	N	0.268	0.67304	0.204	0.85974	D	0.789	0.92861	D	10	0.006111324	0.00137	T	0.224674	0.87961	D	0.189	0.46613	0.188	0.09776	0.887711601573	0.88661	0.2985456713466058	0.29767	.	.	0.304108560085	0.11016	T	0.029732	0.70431	T	-0.467963	0.00875	T	-0.430693	0.29857	T	0.00792731663657177	0.00093	T	0.759324	0.40277	T	0.062621504	0.13099	0.12752393	0.30696	0.05325337	0.10051	0.15068215	0.35525	-5.747	0.44110	T	0.16878907404782587	0.21126	0.106	0.47848	B	.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.	1.886100	0.23959	16.22	0.99598339821547865	0.74042	0.28121	0.23466	N	AEFGI	.	.	.	.	.	.	.	.	.	0.998316003727758	0.36741	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.4	4.4	0.52402	1.686000	0.37287	4.926000	0.46086	-0.749000	0.03603	0.071000	0.22100	1.000000	0.68203	0.776000	0.36750	0.0:0.0:1.0:0.0	11.865	0.51766	80	0.96670	.;.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0.05263	133.36	9	chrX	154556314	.	G	A	133.36	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.35;DP=148;ExcessHet=0.1128;FS=0.000;InbreedingCoeff=-0.0907;MLEAC=2;MLEAF=0.053;MQ=27.00;MQRankSum=0.00;QD=5.80;ReadPosRankSum=0.319;SOR=0.200	GT:AD:DP:GQ:PL	0/1:10,5:15:99:114,0,272	17	0	2	2
chrX	154776816	154776816	-	AAG	exonic	DKC1	.	nonframeshift insertion	DKC1:NM_001142463:exon15:c.1479_1480insAAG:p.K500_A501insK	Dyskeratosis congenita, X-linked, X-linked recessive	.	1	1335	119	53	14	239	0.0777202	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	3716.36	93	chrX	154776813	.	CAAG	C,CAAGAAG	3716.36	.	AC=1,2;AF=0.024,0.048;AN=42;BaseQRankSum=0.985;DP=967;ExcessHet=0.3300;FS=2.012;InbreedingCoeff=-0.0769;MLEAC=1,2;MLEAF=0.024,0.048;MQ=60.00;MQRankSum=0.00;QD=12.56;ReadPosRankSum=-5.560e-01;SOR=0.821	GT:AD:DP:GQ:PL	0/2:39,0,38:77:99:1434,1552,3190,0,1638,1524	18	0	1	0