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	NSWES970	WT	HH	HZ	NC
chr1	1048170	1048170	G	A	exonic	AGRN	.	nonsynonymous SNV	AGRN:NM_198576:exon23:c.G3910A:p.A1304T,	Myasthenic syndrome, congenital, 8, with pre- and postsynaptic defects, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	626538	Congenital_myasthenic_syndrome_8|Inborn_genetic_diseases|not_provided	MONDO:MONDO:0014052,MedGen:C3808739,OMIM:615120,Orphanet:590|MeSH:D030342,MedGen:C0950123|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.61	T	0.003	B	0.004	B	0.010	N	1.000	N	0.345	N	-0.94	T	-1.010	T	0.168	T	0.091	-0.683	1.026	2.89	1.211	0.414	8.824	0.067	0.115961597703	7.9e-05	.	7.977e-05	0	0	0	0	0.0001	0	0.0001	3.23e-05	5	154602	rs375590400	6.729e-05	7.046e-05	6.399e-05	7.063e-05	0.0002	5.63e-05	5.232e-05	0.0001	9.013e-05	3.054e-05	0	0	0	0	0.0002	6.724e-05	8.426e-05	0.0002	5.915e-05	5.911e-05	8.995e-05	2.691e-05	0.0001	3.078e-05	2.211e-05	5.844e-05	4.241e-05	0	0	0	0	0	0	0	0.0001	0.0005	0	0.651	0.04832	T	0.177	0.29740	T	.	.	.	.	.	.	0.009589	0.30291	N	0.263339	1	0.08975	N	0.55	0.14455	N	-0.94	0.75325	T	-0.74	0.20791	N	0.094	0.07398	-1.0098	0.26981	T	0.168	0.50762	T	10	0.06380245	0.08366	T	0.115962	0.79531	D	0.067	0.19503	.	.	0.62380043238	0.62074	0.2750270993301686	0.27415	0.197183558091	0.22091	0.434752881527	0.29859	T	.	.	.	-0.372466	0.03471	T	-0.517752	0.20522	T	0.0112580247223377	0.00166	T	0.542746	0.18485	T	.	.	.	.	.	.	.	.	-4.676	0.33112	T	.	.	0.067	0.04436	B	.;.	.;.	0.864170	0.12365	8.905	0.51909772674365928	0.04649	0.07437	0.13455	N	AEFBI	0.034561	0.04303	N	-1.13487888642228	0.06032	0.276638	-1.08957773557398	0.07904	0.3864023	0.32800561236804	0.19455	0.706298	0.61202	0	0.724815	0.89359	0	0.723109	0.80598	0	0.613276	0.41899	0	.	.	4.93	2.89	0.32713	0.356000	0.19918	0.425000	0.18262	-0.213000	0.08312	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.232:0.5235:0.2445:0.0	8.824	0.34200	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	0.02381	1614.98	36	chr1	1048170	.	G	A	1614.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.685e+00;DP=923;ExcessHet=0.0000;FS=3.603;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.24;ReadPosRankSum=-6.520e-01;SOR=1.051	GT:AD:DP:GQ:PL	0/1:45,61:106:99:1629,0,1184	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	0/1:64,85:149:99:2191,0,1494	19	0	2	0
chr1	1652477	1652477	T	C	exonic	CDK11B	.	nonsynonymous SNV	CDK11B:NM_001291345:exon4:c.A317G:p.K106R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.475e-06	1.368e-06	0	2.977e-06	0.0002	2.5e-07	9e-08	.	.	0	0	0	0	0	0.0002	9.34e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.552	0.15842	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.319	0.44666	.	.	.	.	.	.	.	0.28853494	0.46435	T	.	.	.	.	.	.	.	.	.	0.06272692427002431	0.06212	.	.	.	.	.	0.09342	0.39207	T	.	.	.	.	.	.	.	.	.	0.784922	0.43550	T	.	.	.	.	.	.	.	.	-5.432	0.41511	T	.	.	0.225	0.46608	B	.;.;.	.;.;.	4.703844	0.75492	26.3	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.576000	0.81770	7.801000	0.69150	0.660000	0.55035	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	.	.	.	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	0	0	0	0	0.02381	3263.98	35	chr1	1652477	.	T	C	3263.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.814e+00;DP=937;ExcessHet=0.0000;FS=1.555;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.91;MQRankSum=0.129;QD=13.49;ReadPosRankSum=0.462;SOR=0.585	GT:AD:DP:GQ:PL	0/1:111,131:242:99:3278,0,2866	20	0	1	0
chr1	1752908	1752908	-	CCTCCT	exonic	NADK	.	nonframeshift insertion	NADK:NM_001198995:exon10:c.1240_1241insAGGAGG:p.E413_G414insEE	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0040	0.0013	0.0013	0.0016	0	0.0018	0.0093	0.0161	0.0003074	8	26028	rs150880809	0.0039	0.0041	0.0034	0.0044	0.0211	0.0038	0.0038	0.0203	0.0200	0.0040	0.0042	0.0015	0.0026	0.0003	0.0130	0.0028	0.0048	0.0211	0.0044	0.0045	0.0041	0.0047	0.0232	0.0041	0.0040	0.0197	0.0184	0.0042	0.0111	0.0037	0.0012	0.0042	0.0006	0.0171	0.0038	0.0107	0.0232	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	22075.32	36	chr1	1752908	.	C	CCCT,CCCTCCT	22075.32	.	AC=14,1;AF=0.333,0.024;AN=42;BaseQRankSum=-6.990e-01;DP=1313;ExcessHet=0.1361;FS=0.555;InbreedingCoeff=0.2741;MLEAC=14,1;MLEAF=0.333,0.024;MQ=59.91;MQRankSum=0.00;QD=26.12;ReadPosRankSum=0.088;SOR=0.757	GT:AD:DP:GQ:PL	0/1:39,37,0:76:99:1413,0,1523,1530,1635,3165	10	3	7	0
chr1	2303394	2303394	G	A	exonic	SKI	.	nonsynonymous SNV	SKI:NM_003036:exon3:c.G1205A:p.R402Q,	Shprintzen-Goldberg syndrome, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	390988	Shprintzen-Goldberg_syndrome|Familial_thoracic_aortic_aneurysm_and_aortic_dissection	MONDO:MONDO:0008426,MedGen:C1321551,OMIM:182212,Orphanet:2462|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086,Orphanet:91387	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.16	T	0.999	D	0.805	P	0.000	D	0.983	D	1.87	L	-3.98	D	0.925	D	0.888	D	0.481	4.908	28.3	3.95	1.928	8.478	15.377	0.677	0.658545485986	.	0.000199681	2.487e-05	0	0	0	0	1.512e-05	0	0.0001	2.59e-05	4	154602	rs557289756	1.576e-05	1.573e-05	1.091e-05	2.065e-05	0.0009	1.049e-05	8.76e-06	0.0003	0.0002	0	0	0	5.039e-05	0	0.0009	5.4e-06	1.657e-05	0.0001	2.627e-05	2.625e-05	5.141e-05	0	0.0004	8.14e-06	5.14e-06	7.315e-05	3.038e-05	0	0	0	0	0.0002	0	0	1.47e-05	0	0.0004	0.047	0.40319	D	0.18	0.29442	T	0.999	0.77913	D	0.805	0.58399	P	0.000001	0.84330	D	0.000000	0.98324	0.39990	D	2.255	0.64187	M	-3.98	0.96277	D	-1.23	0.31170	N	0.692	0.69737	0.925	0.96033	D	0.888	0.96278	D	10	0.70547736	0.72710	D	0.658545	0.97126	D	0.677	0.88109	0.442	0.49811	0.81625183416	0.81452	0.48179075392365	0.48099	0.803511162312	0.66361	0.75793337822	0.75622	T	0.443408	0.78721	T	0.0905473	0.63251	D	0.0738164	0.75166	D	0.902675330638885	0.55569	D	0.912709	0.68911	D	0.12546964	0.29413	0.12544534	0.30226	0.12546964	0.29413	0.12544534	0.30225	-3.685	0.19097	T	.	.	0.179	0.38994	B	.	.	4.034934	0.59692	24.1	0.9992619312334966	0.99103	0.98108	0.79665	D	AEFBCI	0.877798	0.80266	D	0.568856337117591	0.71238	5.620493	0.530895962633333	0.70079	5.452802	0.999999994331632	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	3.95	3.95	0.44952	8.589000	0.90602	7.342000	0.58253	0.660000	0.55035	1.000000	0.71638	1.000000	0.68203	0.894000	0.43146	0.0:0.0:1.0:0.0	15.377	0.74339	940	0.13648	.	.	.	.	.	.	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	1237.98	34	chr1	2303394	.	G	A	1237.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.79;DP=804;ExcessHet=0.0000;FS=0.865;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.74;ReadPosRankSum=0.931;SOR=0.569	GT:AD:DP:GQ:PL	0/1:41,43:84:99:1252,0,1075	20	0	1	0
chr1	2408617	2408617	C	T	exonic	PEX10	.	startloss	PEX10:NM_001374425:exon3:c.G435A:p.M145I	Peroxisome biogenesis disorder 6A (Zellweger), Autosomal recessive;Peroxisome biogenesis disorder 6B, Autosomal recessive	.	1	1513	7	1	0	9	0.0029654	.	.	549520	Zellweger_spectrum_disorders|Peroxisome_biogenesis_disorder_6A_(Zellweger)|not_provided|Peroxisome_biogenesis_disorder,_complementation_group_7	MONDO:MONDO:0019609,MedGen:C0043459,Orphanet:912|MONDO:MONDO:0013936,MedGen:C3553947,OMIM:614870,Orphanet:912|MedGen:C3661900|MedGen:C1864399	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.6	T	0.0	B	0.0	B	0.452	N	0.999	N	-1.67	N	-0.12	T	-0.967	T	0.080	T	0.103	0.079	4.425	0.272	0.410	-0.276	3.744	0.086	.	7.7e-05	0.00399361	0.0029	0.0001	0.0002	0	0	0	0.0025	0.0200	0.0024062	372	154602	rs368273118	0.0011	0.0011	0.0006	0.0017	0.0180	0.0011	0.0011	0.0172	0.0169	0	0.0002	0	0	0	0.0009	1.529e-05	0.0011	0.0180	0.0007	0.0007	0.0003	0.0011	0.0209	0.0006	0.0005	0.0176	0.0164	7.214e-05	0	0	0	0	0	0	0	0	0.0209	0.479	0.08408	T	0.509	0.15355	T	0.0	0.02946	B	0.0	0.01387	B	0.452042	0.12495	N	0.765530	0.998659	0.22008	N	-1.63	0.00401	N	-0.12	0.75215	T	0.83	0.01787	N	0.125	0.13911	-0.9669	0.37834	T	0.080	0.31645	T	10	0.0028239489	0.00089	T	.	.	.	0.086	0.25016	0.449	0.50957	0.307016933798	0.30308	0.23091880644901952	0.23006	0.103562949394	0.11719	0.381825447083	0.22516	T	0.060729	0.31465	T	-0.531489	0.00376	T	-0.521287	0.20164	T	0.00340087016643169	0.00036	T	0.685431	0.65058	T	0.049643766	0.08846	0.040707048	0.04463	0.046933863	0.07938	0.042482372	0.05069	-2.496	0.06139	T	.	.	0.124	0.26232	B	.;.;.;.	.;.;.;.	1.156236	0.15446	11.86	0.68920848594933826	0.08808	0.41627	0.26699	N	AEFDBCI	0.203656	0.33015	N	-1.23859382198017	0.04452	0.2009531	-1.12609457512312	0.07204	0.3495664	0.991540881632239	0.32525	0.67177	0.52595	0	0.702456	0.74545	0	0.697927	0.64325	0	0.636168	0.56350	0	.	.	4.76	0.272	0.14899	-0.671000	0.05351	0.446000	0.18474	0.599000	0.40250	0.026000	0.20160	0.993000	0.31925	0.145000	0.20128	0.3406:0.4547:0.114:0.0907	3.744	0.08069	889	0.27310	Pex, N-terminal;Pex, N-terminal;Pex, 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	0.02381	1045.98	35	chr1	2408617	.	C	T	1045.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.670e+00;DP=770;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.33;ReadPosRankSum=0.685;SOR=0.732	GT:AD:DP:GQ:PL	0/1:35,38:73:99:1060,0,1038	20	0	1	0
chr1	2592920	2592924	GTTAC	-	exonic	MMEL1	.	frameshift deletion	MMEL1:NM_033467:exon20:c.1910_1914del:p.S637Ifs*42,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.284e-06	0	0	0	0	0	0	6.057e-05	6.5e-06	1	154602	rs759870291	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.572e-06	6.562e-06	1.286e-05	0	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1432.94	38	chr1	2592919	.	AGTTAC	A	1432.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-9.070e-01;DP=906;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.68;ReadPosRankSum=1.36;SOR=0.680	GT:AD:DP:GQ:PL	0/1:73,40:113:99:1447,0,2925	20	0	1	0
chr1	3022377	3022377	C	T	exonic	ACTRT2	.	nonsynonymous SNV	ACTRT2:NM_080431:exon1:c.C691T:p.L231F,	.	.	424	1085	13	0	0	13	0.00595511	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.013	B	0.046	B	0.218	N	0.953	D	1.425	L	3.01	T	-1.078	T	0.026	T	0.129	1.694	11.62	2.92	0.429	1.947	6.392	0.036	0.0103365661884	.	0.000199681	0.0005	0	8.673e-05	0	0	0.0001	0.0011	0.0031	0.000414	64	154602	rs542542083	0.0002	0.0002	0.0002	0.0003	0.0035	0.0002	0.0002	0.0027	0.0026	0	0	7.652e-05	0	0	0.0035	4.946e-05	0.0004	0.0030	0.0001	0.0001	8.994e-05	0.0001	0.0021	7.573e-05	6.279e-05	0.0011	0.0009	0	0	6.533e-05	0.0006	0	0	0.0102	2.94e-05	0	0.0021	0.004	0.65419	D	0.243	0.24193	T	0.013	0.16609	B	0.046	0.24676	B	0.218328	0.16198	N	0.509086	0.952701	0.37796	D	1.27	0.32069	L	3.01	0.09075	T	-2.26	0.50502	N	0.071	0.04426	-1.0778	0.07781	T	0.026	0.11264	T	10	0.010127097	0.00227	T	0.010337	0.26763	T	0.036	0.09122	.	.	0.137902524267	0.13322	0.7536963177878827	0.75316	0.156088582231	0.17621	0.371997237206	0.21118	T	0.521969	0.83300	D	-0.564991	0.00237	T	-0.588025	0.13837	T	0.0921063023921383	0.11464	T	0.460054	0.13307	T	0.4115561	0.61524	0.31427318	0.57420	0.4115561	0.61525	0.31427318	0.57419	-6.166	0.47647	T	.	.	0.089	0.12084	B	.	.	2.727960	0.35700	19.97	0.99783380090816309	0.86955	0.80455	0.40088	D	AEFBI	0.267433	0.38414	N	-0.550771510963405	0.20459	1.078685	-0.481371761394678	0.22667	1.232318	4.7796867012802E-5	0.03989	0.428477	0.06694	0	0.547309	0.14657	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	4.85	2.92	0.32998	1.927000	0.39724	0.409000	0.18089	-0.182000	0.10109	1.000000	0.71638	0.291000	0.24165	0.066000	0.16387	0.4351:0.4775:0.0:0.0874	6.392	0.20794	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	0	0	0	0	0.02381	1352.98	35	chr1	3022377	.	C	T	1352.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-8.000e-03;DP=891;ExcessHet=0.0000;FS=1.464;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.91;ReadPosRankSum=0.475;SOR=0.878	GT:AD:DP:GQ:PL	0/1:75,49:124:99:1367,0,2167	20	0	1	0
chr1	3766595	3766595	A	C	exonic	CCDC27	.	nonsynonymous SNV	CCDC27:NM_152492:exon9:c.A1513C:p.N505H,	.	.	427	1018	74	3	0	80	0.0378072	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.15	T	0.999	D	0.994	D	0.000	D	0.933	D	1.1	L	1.96	T	-1.062	T	0.063	T	0.347	2.796	15.31	4.99	1.858	4.717	11.053	0.102	.	0.0038	0.00958466	0.0090	0.0002	0.0042	0.0002	0.0045	0.0057	0.0078	0.0377	0.0078718	1217	154602	rs144089943	0.0051	0.0052	0.0041	0.0062	0.0428	0.0051	0.0050	0.0384	0.0367	0.0009	0.0042	0.0287	7.558e-05	0.0038	0.0428	0.0023	0.0079	0.0350	0.0039	0.0039	0.0033	0.0046	0.0301	0.0036	0.0035	0.0261	0.0246	0.0006	0.0088	0.0043	0.0305	0	0.0014	0.0136	0.0031	0.0080	0.0301	0.004	0.65419	D	0.023	0.57104	D	0.999	0.77913	D	0.994	0.82059	D	0.000006	0.62929	D	0.000000	0.933269	0.37049	D	2.57	0.75187	M	1.96	0.22270	T	-3.38	0.66780	D	0.776	0.77319	-1.0617	0.11336	T	0.063	0.26136	T	10	0.0042679906	0.00085	T	.	.	.	0.102	0.29158	.	.	0.31291088546	0.30898	0.31539968237935273	0.31452	0.442136844735	0.44188	0.519552886486	0.41564	T	0.231695	0.59808	T	-0.446022	0.01192	T	-0.386996	0.34904	T	0.0360307911043205	0.02986	T	0.762924	0.38892	T	0.33044806	0.55508	0.28672528	0.54682	0.33044806	0.55508	0.28672528	0.54681	-11.7	0.83360	D	.	.	0.350	0.56547	A	.	.	4.463341	0.69484	25.4	0.99513791993822065	0.68799	0.90596	0.51903	D	AEFDGBI	0.549339	0.56226	D	0.427328015664054	0.62929	4.517303	0.406036618866412	0.61939	4.401428	0.99774680620248	0.35977	0.580535	0.33130	0	0.59043	0.45803	0	0.576033	0.28219	0	0.613276	0.41899	0	.	.	4.99	4.99	0.65942	5.094000	0.64357	10.923000	0.84246	0.691000	0.84096	1.000000	0.71638	1.000000	0.68203	0.881000	0.42162	1.0:0.0:0.0:0.0	11.053	0.47119	808	0.43318	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	1130.98	33	chr1	3766595	.	A	C	1130.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.031;DP=822;ExcessHet=0.0000;FS=5.926;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.83;ReadPosRankSum=-8.420e-01;SOR=0.349	GT:AD:DP:GQ:PL	0/1:64,51:115:99:1145,0,1529	20	0	1	0
chr1	3836493	3836493	A	C	splicing	CEP104	NM_014704:exon10:c.1317+2T>G	.	.	Joubert syndrome 25, Autosomal recessive	.	.	.	.	.	.	.	.	1.0000	0.96	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.000	D	.	.	.	.	.	.	.	.	.	2.069	12.87	5.68	2.154	8.733	15.110	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.735e-05	6.102e-05	3.846e-05	3.617e-05	0.0004	2.688e-05	2.371e-05	0.0002	0.0002	7.327e-05	7.78e-05	0.0003	0	0	0	1.969e-05	5.547e-05	0.0004	5.197e-05	0.0006	0.0001	0	0.0002	0	0	.	.	0.0002	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.625005	0.99412	D	0.66	0.99401	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.	.;.	4.591722	0.72633	25.9	0.99213772171432246	0.55685	0.99525	0.97065	D	AEFDBI	.	.	.	1.04252772716544	0.96910	15.31459	0.857870838013166	0.93466	12.06219	0.999999134379761	0.74766	0.163922	0.03765	0	0.156668	0.03792	0	0.060301	0.00762	0	0.117559	0.03655	0	0.948117	0.61440	5.68	5.68	0.88021	8.725000	0.91200	10.879000	0.84044	0.751000	0.87719	1.000000	0.71638	1.000000	0.68203	0.393000	0.26625	1.0:0.0:0.0:0.0	15.110	0.72020	982	0.03397	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2308	383.65	28	chr1	3836493	.	A	C	383.65	.	AC=6;AF=0.231;AN=26;BaseQRankSum=-2.212e+00;DP=963;ExcessHet=1.7912;FS=18.016;InbreedingCoeff=-0.3299;MLEAC=8;MLEAF=0.308;MQ=60.00;MQRankSum=0.00;QD=1.86;ReadPosRankSum=1.90;SOR=2.259	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:24,7:31:58:.:.:58,0,731	7	0	6	8
chr1	7933279	7933279	T	C	exonic	TNFRSF9	.	nonsynonymous SNV	TNFRSF9:NM_001561:exon7:c.A562G:p.I188V,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.55	T	0.001	B	0.001	B	0.002	N	1.000	N	0.92	L	3.26	T	-0.980	T	0.013	T	0.036	-0.583	1.382	-6.64	-1.108	-1.748	1.801	0.019	0.00322881089952	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1422125870	4.106e-06	4.104e-06	1.362e-06	6.879e-06	6.963e-05	1.48e-06	9.7e-07	2.997e-05	2.039e-05	0	0	0	0	0	0	0	0	6.963e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.766	0.03421	T	0.615	0.27855	T	0.001	0.07471	B	0.001	0.04355	B	0.001980	0.00848	N	2.877280	1	0.08975	N	2.225	0.63025	M	3.26	0.46028	T	-0.29	0.11728	N	0.07	0.04307	-0.9800	0.35002	T	0.013	0.05081	T	10	0.06785095	0.09512	T	0.003229	0.07117	T	0.019	0.03383	0.337	0.32654	0.130388298395	0.12655	0.14598170991795134	0.14520	0.0757698424566	0.08505	0.269181847572	0.06035	T	0.148063	0.48644	T	-0.462213	0.00952	T	-0.801083	0.01875	T	0.0571555953774738	0.06713	T	0.263374	0.04839	T	0.01753673	0.00281	0.024458949	0.00466	0.01753673	0.00281	0.024458949	0.00466	-3.348	0.14364	T	.	.	0.079	0.16143	B	.;.;.	.;.;.	-1.269141	0.00465	0.010	0.25531466869519609	0.01181	0.01024	0.03847	N	AEFBI	0.062436	0.12001	N	-1.37358184774086	0.02887	0.1281695	-1.47322740192701	0.02566	0.1182411	0.177775733794763	0.17828	0.554377	0.28877	0	0.588066	0.40923	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	4.42	-6.64	0.01635	-1.766000	0.01895	-2.713000	0.03439	-0.762000	0.03503	0.000000	0.06391	0.000000	0.08366	0.105000	0.18517	0.2248:0.1766:0.4202:0.1784	1.801	0.02886	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	0.02778	92.1	43	chr1	7933279	.	T	C	92.1	.	AC=1;AF=0.028;AN=36;BaseQRankSum=0.923;DP=713;ExcessHet=0.0000;FS=8.994;InbreedingCoeff=-0.0641;MLEAC=1;MLEAF=0.028;MQ=60.00;MQRankSum=0.00;QD=3.18;ReadPosRankSum=0.156;SOR=3.312	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:24,5:29:99:0|1:7933277_G_A:105,0,953:7933277	17	0	1	3
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|1:22,5:27:99:0|1:7933277_G_A:111,0,907:7933277	8	0	10	3
chr1	7933284	7933284	T	C	exonic	TNFRSF9	.	nonsynonymous SNV	TNFRSF9:NM_001561:exon7:c.A557G:p.Q186R,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.52	T	0.013	B	0.014	B	0.332	N	1.000	N	1.04	L	3.23	T	-0.952	T	0.017	T	0.174	-0.120	3.413	0.698	0.020	-0.263	4.014	0.025	0.00492114500008	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.175	0.22400	T	0.141	0.33442	T	0.013	0.16609	B	0.014	0.16862	B	0.332256	0.04138	N	1.435410	1	0.08975	N	1.6	0.40776	L	3.23	0.49642	T	-1.74	0.41239	N	0.27	0.30800	-0.9518	0.40660	T	0.017	0.07092	T	10	0.08167744	0.13399	T	0.004921	0.12380	T	0.025	0.05312	0.347	0.34274	0.199424873507	0.19547	0.4534572498753928	0.45263	0.102056697399	0.11557	0.240433782339	0.02830	T	0.236674	0.60419	T	-0.227205	0.17020	T	-0.56414	0.15990	T	0.0580137530836064	0.06852	T	0.353565	0.07967	T	0.06338034	0.13338	0.077297464	0.17204	0.06338034	0.13337	0.077297464	0.17204	-4.235	0.27255	T	.	.	0.076	0.16670	B	.;.;.	.;.;.	0.239267	0.06198	2.647	0.2184958286528946	0.00852	0.02365	0.06735	N	AEFBI	0.079208	0.15995	N	-1.0471985639571	0.07642	0.3557194	-1.07439610198478	0.08206	0.402493	5.82196307899026E-4	0.07390	0.554377	0.28877	0	0.588066	0.40923	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	4.43	0.698	0.17247	-0.275000	0.08557	-1.120000	0.06271	0.665000	0.62972	0.000000	0.06391	0.000000	0.08366	0.142000	0.20019	0.0:0.1989:0.2058:0.5953	4.014	0.09123	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	0.02381	102.98	39	chr1	7933284	.	T	C	102.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.534e+00;DP=697;ExcessHet=0.0000;FS=8.541;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=4.12;ReadPosRankSum=0.736;SOR=2.904	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:20,5:25:99:0|1:7933277_G_A:117,0,825:7933277	20	0	1	0
chr1	7933285	7933285	G	A	exonic	TNFRSF9	.	stopgain	TNFRSF9:NM_001561:exon7:c.C556T:p.Q186X,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.92	T	.	.	.	.	0.332	N	1.000	A	.	.	.	.	.	.	.	.	.	4.414	23.4	4.43	2.479	1.180	12.735	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.57e-06	6.567e-06	0	1.345e-05	.	0	0	.	.	0	0	0	0	0	9.423e-05	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	0.332256	0.04138	N	1.435410	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.855	0.85132	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.366827	0.87775	D	0.289145	0.87619	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;Recessive;.	.;High;.	6.175517	0.94728	34	0.99348834800104535	0.60493	0.10423	0.15934	N	AEFBI	0.048918	0.08399	N	0.241177414207673	0.53206	3.490411	-0.0555314215728076	0.37251	2.178615	0.420669811402195	0.20289	0.554377	0.28877	0	0.588066	0.40923	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	4.43	4.43	0.52967	1.197000	0.31819	2.034000	0.30268	0.676000	0.76740	0.002000	0.15269	0.019000	0.20708	0.139000	0.19909	0.0:0.0:1.0:0.0	12.735	0.56589	804	0.43891	.;.;.	.	.	.	.	.	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	0.04762	122.11	32	chr1	7933285	.	G	A	122.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.039;DP=675;ExcessHet=0.1072;FS=10.794;InbreedingCoeff=-0.0503;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=2.65;ReadPosRankSum=0.736;SOR=3.105	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:20,4:24:99:0|1:7933277_G_A:101,0,828:7933277	19	0	2	0
chr1	12893275	12893276	AG	-	exonic	PRAMEF10	.	frameshift deletion	PRAMEF10:NM_001039361:exon4:c.1065_1066del:p.L356Kfs*32,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.579e-06	6.568e-06	1.286e-05	0	6.574e-05	0	0	.	.	0	0	6.574e-05	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	184.94	35	chr1	12893274	.	AAG	A	184.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.43;DP=1988;ExcessHet=0.0000;FS=2.061;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=54.16;MQRankSum=-5.388e+00;QD=1.11;ReadPosRankSum=-2.593e+00;SOR=0.853	GT:AD:DP:GQ:PL	0/1:150,16:168:99:199,0,6466	20	0	1	0
chr1	12893278	12893278	-	GT	exonic	PRAMEF10	.	frameshift insertion	PRAMEF10:NM_001039361:exon4:c.1062_1063insAC:p.V355Tfs*3,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.581e-06	6.568e-06	1.286e-05	0	6.577e-05	0	0	.	.	0	0	6.577e-05	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	259.94	35	chr1	12893278	.	C	CGT	259.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=4.37;DP=1993;ExcessHet=0.0000;FS=2.051;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=54.07;MQRankSum=-5.717e+00;QD=1.46;ReadPosRankSum=-3.361e+00;SOR=0.857	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:160,18:178:99:0|1:12893278_C_CGT:274,0,6636:12893278	20	0	1	0
chr1	16058642	16058642	G	A	exonic	FAM131C	.	nonsynonymous SNV	FAM131C:NM_182623:exon7:c.C638T:p.S213L,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.26	T	1.0	D	0.992	D	0.032	N	0.877	N	1.78	L	2.49	T	-1.104	T	0.073	T	0.424	3.643	18.53	3.69	1.634	1.285	10.973	0.059	0.0208171850556	.	.	7.073e-05	0.0003	0	0.0004	0	0	0	9.349e-05	3.23e-05	5	154602	rs776725572	1.246e-05	1.779e-05	9.616e-06	1.535e-05	7.659e-05	7.79e-06	6.43e-06	3.105e-05	2.11e-05	5.993e-05	0	0	7.659e-05	0	0	4.522e-06	3.342e-05	7.264e-05	5.254e-05	5.253e-05	5.137e-05	5.378e-05	0.0001	2.556e-05	1.829e-05	6.28e-05	4.297e-05	0.0001	0	0.0001	0	0	0	0	0	0	0	0.016	0.51853	D	0.182	0.29249	T	1.0	0.90584	D	0.992	0.80445	D	0.032276	0.25053	N	0.391977	0.87719	0.28110	N	2.25	0.63811	M	2.49	0.14531	T	-2.0	0.46146	N	0.095	0.07535	-1.1042	0.03620	T	0.073	0.29419	T	10	0.15819076	0.29753	T	0.020817	0.43488	T	0.059	0.16972	0.189	0.09907	0.294206760003	0.29026	0.17514096650573194	0.17433	1.21038623633	0.80821	0.593596458435	0.52001	T	0.007062	0.06479	T	-0.333292	0.05866	T	-0.468218	0.25709	T	0.53089714050293	0.33767	D	0.705629	0.31596	T	0.0852735	0.19773	0.12802722	0.30808	0.0852735	0.19773	0.12802722	0.30807	-3.629	0.18277	T	.	.	0.076	0.06069	B	.	.	3.005236	0.40166	21.1	0.99894199010958784	0.96742	0.67826	0.33574	D	AEFGBI	0.196694	0.32365	N	0.222432241521795	0.52287	3.403859	0.129967482838719	0.46089	2.860695	0.269476239351767	0.18876	0.549168	0.22868	0	0.59043	0.45803	0	0.576033	0.28219	0	0.616125	0.45549	0	.	.	3.69	3.69	0.41483	1.840000	0.38871	5.123000	0.47601	-0.299000	0.06208	0.587000	0.27642	0.999000	0.35428	0.049000	0.15107	0.0:0.0:1.0:0.0	10.973	0.46662	561	0.71236	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	415.98	27	chr1	16058642	.	G	A	415.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.256;DP=902;ExcessHet=0.0000;FS=2.699;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=48.64;MQRankSum=-1.898e+00;QD=10.40;ReadPosRankSum=0.421;SOR=1.179	GT:AD:DP:GQ:PL	0/1:22,18:40:99:430,0,504	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	0/1:436,170:606:99:3821,0,12541	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	0/1:582,245:827:99:4952,0,16171	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|1:501,325:826:99:0|1:16564103_T_A:10415,0,15343:16564103	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|1:606,205:811:99:0|1:16564103_T_A:4170,0,22865:16564103	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	0/1:410,216:626:99:5224,0,15184	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	0/1:307,299:606:99:7722,0,10565	1	0	20	0
chr1	16567226	16567226	A	C	exonic	NBPF1	.	unknown	UNKNOWN,	.	.	324	803	395	0	0	395	0.197401	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0195	.	0.1438	0.0722	0.1053	0.1226	0.1691	0.1504	0.1502	0.1896	0.10516	16258	154602	rs201533998	0.0001	0.0002	0.0001	0.0001	0.0001	0.0001	9.594e-05	0.0001	8.876e-05	0	5.065e-05	0.0007	0.0001	0	0	0.0001	0.0001	0.0001	3.682e-05	0.0001	7.054e-05	0	0.0002	1.377e-05	8.82e-06	1.31e-05	6.63e-06	0	0	0	0.0003	0.0002	0	0	4.936e-05	0	0	.	.	.	0.023	0.61642	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.33	0.37093	.	.	.	.	.	.	.	0.0041511655	0.00082	T	.	.	.	.	.	.	.	.	.	0.023240658769933194	0.02276	.	.	0.600396811962	0.52961	T	.	.	.	-0.583903	0.00182	T	-0.597232	0.13045	T	.	.	.	0.937806	0.76632	D	.	.	.	.	.	.	.	.	-6.372	0.49291	T	.	.	0.237	0.50016	B	.;.	.;.	1.595410	0.20400	14.73	0.33525994525903774	0.02002	0.02869	0.07640	N	AEFDBHCIJ	0.038534	0.05466	N	.	.	.	.	.	.	0.473035393726149	0.20723	0.383005	0.05895	0	0.152768	0.03566	2	0.457825	0.06646	0	0.393	0.06807	0	.	.	0.39	0.39	0.15500	-0.142000	0.10293	-1.937000	0.04467	0.256000	0.18359	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	.	.	.	491	0.76657	.;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	0.1429	7171.99	1271	chr1	16567226	.	A	C	7171.99	.	AC=6;AF=0.143;AN=42;BaseQRankSum=0.095;DP=12314;ExcessHet=1.7912;FS=0.000;InbreedingCoeff=-0.1651;MLEAC=6;MLEAF=0.143;MQ=57.63;MQRankSum=-1.564e+00;QD=0.89;ReadPosRankSum=0.304;SOR=0.650	GT:AD:DP:GQ:PL	0/1:1167,148:1315:99:734,0,32218	15	0	6	0
chr1	16579293	16579293	A	G	exonic	NBPF1	.	unknown	UNKNOWN,	.	.	529	584	394	15	0	424	0.266332	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4770	0.4924	0.4777	0.4566	0.4691	0.4789	0.4718	0.4739	0.0008837	23	26028	rs4127114	2.64e-05	4.277e-05	2.622e-05	2.658e-05	0.0002	1.812e-05	1.531e-05	0.0001	7.808e-05	0.0002	0	4.461e-05	0.0002	0	0	1.524e-05	2.313e-05	0	0.0002	0.0007	0.0002	0.0002	0.0007	0.0001	0.0001	0.0002	0.0001	0.0003	0	7.295e-05	0	0.0002	0	0	0.0001	0	0.0007	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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|1:88,15:103:99:0|1:16579293_A_G:365,0,3631:16579293	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|1:88,15:103:99:0|1:16579293_A_G:365,0,3631:16579293	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	0/1:89,13:102:99:.:.:251,0,2732	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	0/1:91,9:100:66:.:.:66,0,3732	8	0	13	0
chr1	21873038	21873038	C	T	exonic	HSPG2	.	nonsynonymous SNV	HSPG2:NM_001291860:exon31:c.G3850A:p.V1284I	Dyssegmental dysplasia, Silverman-Handmaker type, Autosomal recessive;Schwartz-Jampel syndrome, type 1, Autosomal recessive	.	0	1521	1	0	0	1	0.000328623	.	.	609389	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.9	T	0.004	B	0.003	B	0.380	N	1.000	N	0.17	N	0.55	T	-1.018	T	0.034	T	0.097	0.482	6.616	-4.75	-0.892	-3.416	7.024	0.012	.	0.0044	0.00399361	0.0013	0.0139	0.0010	0.0006	0	6.184e-05	0	0	0.0012678	196	154602	rs62642527	0.0004	0.0004	0.0005	0.0004	0.0135	0.0004	0.0004	0.0124	0.0120	0.0135	0.0008	0	0.0003	0	0.0017	5.126e-05	0.0009	9.275e-05	0.0037	0.0037	0.0036	0.0038	0.0126	0.0034	0.0033	0.0117	0.0114	0.0126	0	0.0012	0	0.0010	0	0	0.0001	0.0028	0	1.0	0.00964	T	0.722	0.05309	T	0.004	0.12183	B	0.003	0.08700	B	0.379993	0.04414	N	1.555340	0.999995	0.08975	N	0.54	0.13725	N	0.55	0.54728	T	0.07	0.06138	N	0.071	0.04426	-1.0177	0.24463	T	0.034	0.14726	T	10	0.0060321987	0.00135	T	.	.	.	0.012	0.01476	.	.	0.119812018005	0.11559	0.08481903745261421	0.08415	0.163701473384	0.18462	0.232525140047	0.02160	T	0.086158	0.37663	T	-0.617561	0.00114	T	-0.648829	0.09036	T	0.0056086286976912	0.00061	T	0.486451	0.14861	T	0.016558224	0.00206	0.02467474	0.00492	0.013549697	0.00062	0.02046422	0.00137	-5.65	0.43246	T	.	.	0.059	0.00806	B	.	.	-2.616346	0.00024	0.001	0.78487433657432737	0.12322	0.07666	0.13672	N	AEFBCI	0.042216	0.06523	N	-1.60844066947331	0.01223	0.05317591	-1.61698420533084	0.01555	0.07048592	0.999191229830803	0.38711	0.67177	0.52595	0	0.588066	0.40923	0	0.723109	0.80598	0	0.711	0.71501	0	.	.	4.98	-4.75	0.03003	-4.117000	0.00330	-15.654000	0.00347	-1.641000	0.00840	0.000000	0.06391	0.000000	0.08366	0.033000	0.13494	0.0:0.3489:0.1186:0.5325	7.024	0.24105	799	0.44747	Laminin EGF domain|Laminin EGF domain|Laminin EGF 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	2524.98	62	chr1	21873038	.	C	T	2524.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.35;DP=1256;ExcessHet=0.0000;FS=1.071;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.20;ReadPosRankSum=-1.342e+00;SOR=0.790	GT:AD:DP:GQ:PL	0/1:102,105:207:99:2539,0,2201	20	0	1	0
chr1	21874729	21874729	C	T	exonic	HSPG2	.	nonsynonymous SNV	HSPG2:NM_001291860:exon27:c.G3418A:p.D1140N	Dyssegmental dysplasia, Silverman-Handmaker type, Autosomal recessive;Schwartz-Jampel syndrome, type 1, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06	T	0.982	D	0.808	P	0.123	N	0.998	D	2.01	M	0.12	T	-0.468	T	0.299	T	0.074	4.288	22.4	4.02	2.352	3.588	13.706	0.199	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1259362416	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.027	0.46513	D	0.04	0.50809	D	0.982	0.60036	D	0.808	0.58514	P	0.123177	0.18928	N	0.385573	0.998272	0.44710	D	1.475	0.37068	L	0.12	0.61089	T	-3.48	0.67941	D	0.284	0.32148	-0.4679	0.69798	T	0.299	0.67045	T	10	0.47364607	0.60013	T	0.107763	0.78399	D	0.199	0.48268	0.144	0.04746	0.624238668723	0.62118	0.2701986166004367	0.26932	0.584731077447	0.54139	0.713496685028	0.69100	T	0.358721	0.72523	T	-0.166639	0.25744	T	-0.477142	0.24752	T	0.967730939388275	0.68007	D	0.960204	0.84976	D	0.31836805	0.54501	0.2566209	0.51364	0.31836805	0.54501	0.2566209	0.51364	-9.027	0.67871	D	.	.	0.118	0.24020	B	.	.	4.337924	0.66520	25.0	0.99905770846007369	0.97651	0.91849	0.54396	D	AEFBCI	0.639474	0.61752	D	0.545220801998794	0.69791	5.407503	0.521943665391774	0.69470	5.364831	0.998871002090167	0.37868	0.67177	0.52595	0	0.610034	0.51514	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.03	4.02	0.45968	3.646000	0.54137	3.295000	0.37336	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.979000	0.57723	0.165:0.835:0.0:0.0	13.706	0.62121	799	0.44747	Laminin EGF 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	822.98	34	chr1	21874729	.	C	T	822.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.418;DP=737;ExcessHet=0.0000;FS=1.259;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=19.59;ReadPosRankSum=0.053;SOR=0.997	GT:AD:DP:GQ:PL	0/1:14,28:42:99:837,0,385	20	0	1	0
chr1	21880695	21880695	T	G	exonic	HSPG2	.	nonsynonymous SNV	HSPG2:NM_001291860:exon15:c.A1962C:p.Q654H	Dyssegmental dysplasia, Silverman-Handmaker type, Autosomal recessive;Schwartz-Jampel syndrome, type 1, Autosomal recessive	.	1	1520	1	0	0	1	0.000328839	.	.	609392	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.27	T	0.0	B	0.002	B	0.141	N	1.000	N	0.745	N	1.29	T	-1.081	T	0.026	T	0.107	-0.757	0.797	-6.99	-1.006	-0.701	2.109	0.122	.	0.0029	0.00279553	0.0015	0.0155	0.0009	0	0	5.85e-05	0	0	0.0009314	144	154602	rs62642535	0.0003	0.0003	0.0004	0.0003	0.0115	0.0003	0.0003	0.0105	0.0102	0.0115	0.0007	0	0	0	0.0017	2.623e-05	0.0007	5.959e-05	0.0030	0.0030	0.0029	0.0031	0.0104	0.0028	0.0027	0.0095	0.0092	0.0104	0	0.0011	0	0	0	0	4.413e-05	0.0028	0	0.888	0.02495	T	0.746	0.04877	T	0.0	0.02946	B	0.002	0.06944	B	0.141148	0.18286	N	0.398508	0.999966	0.18878	N	0.55	0.14455	N	1.29	0.35775	T	0.15	0.05310	N	0.12	0.11054	-1.0808	0.07194	T	0.026	0.10998	T	10	0.0077708066	0.00177	T	.	.	.	0.122	0.33800	0.813	0.92857	0.130388298395	0.12655	0.4821848671589554	0.48138	0.192598309387	0.21586	0.484041035175	0.36613	T	0.115562	0.43424	T	-0.630253	0.00095	T	-0.667703	0.07756	T	0.00339269773489641	0.00036	T	0.60064	0.22426	T	0.08837348	0.20612	0.052607905	0.08700	0.08837348	0.20612	0.052607905	0.08700	-5.283	0.39774	T	.	.	0.128	0.27373	B	.	.	0.060910	0.04720	1.352	0.49926772551750087	0.04295	0.19946	0.20856	N	AEFDBCI	0.214750	0.34019	N	-1.26289642727497	0.04132	0.1859057	-1.29236457870621	0.04533	0.2140336	0.999919181878338	0.45857	0.67177	0.52595	0	0.633656	0.55848	0	0.723109	0.80598	0	0.711	0.71501	0	.	.	5.64	-6.99	0.01449	-0.980000	0.03880	-3.076000	0.03082	-0.201000	0.08892	0.029000	0.20367	0.000000	0.08366	0.362000	0.25931	0.1982:0.3392:0.0873:0.3753	2.109	0.03474	785	0.46916	Laminin IV|Laminin IV|Laminin IV	.	.	.	.	.	Likely benign	0	0	0	0	0	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	845.98	86	chr1	21880695	.	T	G	845.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.622e+00;DP=1929;ExcessHet=0.0000;FS=0.874;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.13;ReadPosRankSum=0.826;SOR=0.527	GT:AD:DP:GQ:PL	0/1:42,34:76:99:860,0,1224	20	0	1	0
chr1	23193358	23193358	G	A	exonic	HTR1D	.	nonsynonymous SNV	HTR1D:NM_000864:exon2:c.C862T:p.R288C,	.	.	422	1099	1	0	0	1	0.000454752	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.987	D	0.000	D	1.000	D	3.11	M	-0.79	T	0.087	D	0.566	D	0.386	3.053	16.19	2.14	1.253	3.067	6.561	0.545	0.137550439549	0.0006	0.000399361	0.0002	0.0023	0	0	0	5.995e-05	0	0	0.0002005	31	154602	rs140039742	0.0001	0.0001	0.0001	0.0001	0.0017	0.0001	0.0001	0.0014	0.0012	0.0017	8.944e-05	0	0	0	0.0003	0.0001	0.0002	1.159e-05	0.0006	0.0006	0.0007	0.0005	0.0018	0.0005	0.0004	0.0015	0.0014	0.0018	0	0.0002	0	0	0	0	0.0001	0	0.0002	0.0	0.91255	D	0.004	0.74150	D	1.0	0.90584	D	0.987	0.77487	D	0.000000	0.84330	D	0.000000	0.999999	0.58761	D	3.175	0.88760	M	-0.79	0.73739	T	-3.74	0.71042	D	0.407	0.44761	0.087	0.83937	D	0.566	0.84258	D	10	0.073269874	0.11049	T	0.13755	0.82005	D	0.545	0.81077	.	.	0.781865484797	0.77985	0.4025102612797648	0.40167	0.671141632783	0.59445	0.567036569118	0.48260	T	0.694	0.91136	D	-0.243971	0.14846	T	-0.136454	0.60424	T	0.364396328825973	0.27580	T	0.965803	0.87368	D	0.71304303	0.78775	0.45999497	0.68634	0.71304303	0.78776	0.45999497	0.68634	-11.184	0.80658	D	.	.	0.289	0.52119	B	.	.	5.496672	0.91543	32	0.99921998276589874	0.98787	0.86550	0.45853	D	AEFBI	0.414329	0.48364	N	0.599270375576618	0.73129	5.915975	0.481531290017055	0.66767	4.995113	0.997204868166458	0.35373	0.706298	0.61202	0	0.547309	0.14657	0	0.709663	0.75317	0	0.655142	0.61905	0	.	.	5.34	2.14	0.26518	3.090000	0.49888	7.192000	0.57776	0.672000	0.70159	1.000000	0.71638	1.000000	0.68203	0.877000	0.41881	0.0914:0.0:0.4033:0.5053	6.561	0.21683	735	0.53711	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	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	1985.98	42	chr1	23193358	.	G	A	1985.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.903;DP=939;ExcessHet=0.0000;FS=1.265;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.98;ReadPosRankSum=0.706;SOR=0.574	GT:AD:DP:GQ:PL	0/1:77,76:153:99:2000,0,2034	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	1|2:0,26,4:30:90:1|0:26282320_TCCAGGACAGGGACTGGGGCCGGGACCGGGACCGGGACTGGGGCCGGGACCGGGACCGGGACTGGGGCCGGGACCGGGA_T:1260,168,90,1092,0,1080:26282320	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|2:22,4,11:37:99:0|1:26282334_TGGGGCCG_*:354,259,1206,0,756,891:26282334	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|2:26,4,11:41:99:0|1:26282334_TGGGGCCG_*:342,259,1374,0,924,1059:26282334	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	1|2:0,26,14:40:99:0|1:26282270_C_T:1633,554,594,1086,0,1044:26282270	1	0	7	0
chr1	26282374	26282376	ACC	0	exonic	UBXN11	.	.	.	.	.	400	608	276	45	193	559	0.231353	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	14396.36	49	chr1	26282374	.	ACC	*,A	14396.36	.	AC=10,12;AF=0.294,0.353;AN=34;BaseQRankSum=-8.440e-01;DP=1160;ExcessHet=1.0911;FS=8.398;InbreedingCoeff=-0.1667;MLEAC=11,13;MLEAF=0.324,0.382;MQ=60.00;MQRankSum=0.00;QD=16.49;ReadPosRankSum=0.737;SOR=0.276	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:15,26,0:45:99:0|1:26282270_C_T:1047,0,552,1092,630,1722:26282270	1	0	5	4
chr1	26282386	26282392	GCCGGGA	0	exonic	UBXN11	.	.	.	.	.	476	531	212	27	276	542	0.200301	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	11324.73	50	chr1	26282386	.	GCCGGGA	*,G	11324.73	.	AC=12,10;AF=0.353,0.294;AN=34;BaseQRankSum=0.255;DP=1262;ExcessHet=1.0911;FS=8.945;InbreedingCoeff=-0.1667;MLEAC=13,11;MLEAF=0.382,0.324;MQ=60.00;MQRankSum=0.00;QD=12.38;ReadPosRankSum=2.17;SOR=0.289	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:19,4,25:48:99:0|1:26282270_C_T:993,885,1710,0,631,723:26282270	1	1	5	4
chr1	26302813	26302813	C	T	exonic	UBXN11	.	nonsynonymous SNV	UBXN11:NM_001077262:exon2:c.G71A:p.G24E	.	.	426	1078	17	1	0	19	0.00873563	1.0000	1.0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	D	1.0	D	0.005	N	1.000	D	1.89	L	0.56	T	-0.561	T	0.300	T	0.705	4.009	20.5	5.02	2.497	1.307	14.223	0.161	0.0245755285633	0.0023	0.00139776	0.0032	0.0011	0.0013	0	0.0006	0.0045	0.0046	0.0030	0.0030013	464	154602	rs185509270	0.0032	0.0032	0.0031	0.0033	0.0073	0.0031	0.0031	0.0056	0.0049	0.0008	0.0016	0.0128	2.519e-05	0.0008	0.0073	0.0034	0.0030	0.0030	0.0025	0.0025	0.0026	0.0025	0.0040	0.0023	0.0022	0.0036	0.0034	0.0007	0	0.0022	0.0115	0	0.0005	0.0034	0.0040	0.0005	0.0015	0.0	0.91255	D	0.0	0.92824	D	0.998	0.90584	D	0.923	0.97372	D	0.004759	0.33426	N	0.196490	0.986583	0.81001	D	2.425	0.70256	M	0.56	0.54540	T	-1.51	0.72594	N	0.492	0.52563	-0.5607	0.66377	T	0.300	0.67166	T	9	0.007385522	0.00168	T	0.024576	0.47567	T	0.161	0.41658	.	.	0.756400104202	0.75419	0.427406060681843	0.42657	0.751198046596	0.63791	0.502426981926	0.39166	T	0.134715	0.48106	T	-0.22307	0.17575	T	-0.0932082	0.63919	T	0.0135733448611932	0.00250	T	0.831017	0.50060	T	0.21760602	0.44248	0.19395082	0.42992	0.21760602	0.44248	0.19395082	0.42991	-3.631	0.35746	T	.	.	0.122	0.44669	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	5.012736	0.83260	28.0	0.99752623855892775	0.84382	0.62145	0.31693	D	AEFBCIJ	0.523908	0.54732	D	0.599588342710051	0.73150	5.919186	0.570085177742901	0.72806	5.868129	0.999999992845656	0.74766	0.651	0.46895	0	0.708844	0.79440	0	0.608524	0.38960	0	0.655142	0.61905	0	.	.	5.02	5.02	0.66742	1.184000	0.31663	3.155000	0.36543	0.599000	0.40250	0.999000	0.42656	1.000000	0.68203	0.995000	0.73285	0.0:1.0:0.0:0.0	14.223	0.65383	397	0.82902	.;.;.;.;.;.;.;.	.	.	.	.	.	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	640.98	33	chr1	26302813	.	C	T	640.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.07;DP=776;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.86;ReadPosRankSum=0.619;SOR=0.779	GT:AD:DP:GQ:PL	0/1:41,24:65:99:655,0,1173	20	0	1	0
chr1	31738875	31738875	G	A	exonic	ADGRB2	.	nonsynonymous SNV	ADGRB2:NM_001294335:exon16:c.C2558T:p.P853L	.	.	426	1095	1	0	0	1	0.000456413	.	.	696684	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.39	T	0.026	B	0.01	B	0.241	N	1.000	D	0	N	3.1	T	-0.910	T	0.004	T	0.147	1.456	10.81	2.92	1.168	1.728	6.824	0.036	.	0.0044	0.00938498	0.0066	0.0007	0.0007	0.0360	0.0042	0.0062	0.0067	0.0015	0.0064553	998	154602	rs112847200	0.0050	0.0050	0.0051	0.0049	0.0208	0.0049	0.0049	0.0196	0.0192	0.0007	0.0008	0.0004	0.0208	0.0053	0.0009	0.0051	0.0059	0.0015	0.0044	0.0044	0.0046	0.0042	0.0345	0.0041	0.0040	0.0304	0.0288	0.0008	0	0.0022	0.0009	0.0345	0.0048	0.0068	0.0051	0.0066	0.0019	0.397	0.10588	T	1.0	0.11407	T	0.001	0.07471	B	0.004	0.10090	B	0.241265	0.15706	N	0.536026	0.999755	0.49910	D	.	.	.	3.1	0.08283	T	1.66	0.00805	N	0.262	0.29659	-0.9103	0.46818	T	0.004	0.01261	T	10	0.0023995638	0.00036	T	.	.	.	0.036	0.09122	.	.	0.043077524339	0.03247	0.607898671516568	0.60721	0.725430536437	0.62450	0.573406100273	0.49158	T	0.002964	0.42057	T	-0.594474	0.00158	T	-0.600237	0.12792	T	0.00963008814123031	0.00125	T	0.893711	0.64114	D	0.051171266	0.09357	0.057117015	0.10328	0.052788027	0.09896	0.057117015	0.10327	-1.619	0.02566	T	.	.	0.054	0.05017	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	3.551796	0.49937	22.9	0.8226394211068645	0.14102	0.82271	0.41524	D	AEFDBI	0.406188	0.47877	N	-0.433918014962857	0.24288	1.310409	-0.259468637880404	0.29446	1.649824	0.998132258555286	0.36473	0.695654	0.57023	0	0.588066	0.40923	0	0.723109	0.80598	0	0.604944	0.38103	0	.	.	3.86	2.92	0.32998	1.749000	0.37946	8.716000	0.78149	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.1303:0.0:0.8697:0.0	6.824	0.23054	582	0.69555	.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	1694.98	36	chr1	31738875	.	G	A	1694.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.400e-01;DP=875;ExcessHet=0.0000;FS=3.029;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.02;ReadPosRankSum=-6.600e-01;SOR=0.982	GT:AD:DP:GQ:PL	0/1:71,70:141:99:1709,0,1763	20	0	1	0
chr1	31793844	31793844	C	T	exonic	SPOCD1	.	nonsynonymous SNV	SPOCD1:NM_001281988:exon11:c.G916A:p.G306R	.	.	0	225	1	0	0	1	0.00221729	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.46	T	0.179	B	0.033	B	.	.	1.000	N	0.97	L	1.91	T	-1.041	T	0.048	T	0.097	0.540	6.922	1.77	0.274	0.384	7.591	0.006	0.0198114750003	0.0047	0.00139776	0.0042	0.0019	0.0006	0.0028	0.0023	0.0062	0.0044	0.0017	0.0042108	651	154602	rs112565608	0.0044	0.0044	0.0045	0.0043	0.0051	0.0043	0.0043	0.0050	0.0050	0.0023	0.0007	0.0004	0.0012	0.0029	0.0010	0.0051	0.0048	0.0018	0.0034	0.0034	0.0036	0.0033	0.0051	0.0032	0.0031	0.0046	0.0045	0.0022	0	0.0012	0.0009	0.0029	0.0026	0.0068	0.0051	0.0047	0.0023	0.261	0.24661	T	0.816	0.04194	T	0.179	0.28995	B	0.032	0.22329	B	.	.	.	.	1	0.08975	N	1.285	0.32305	L	0.92	0.44461	T	-1.83	0.42957	N	0.092	0.11483	-1.0409	0.17041	T	0.048	0.20395	T	9	0.0038508177	0.00073	T	0.019811	0.42265	T	0.006	0.00375	0.339	0.32979	0.244539031024	0.24083	0.28858030357033626	0.28771	0.184002297361	0.20694	0.231299430132	0.02066	T	0.002623	0.10917	T	-0.619417	0.00111	T	-0.652138	0.08805	T	0.0038977328858979	0.00041	T	0.510949	0.16331	T	0.04365336	0.06841	0.059810083	0.11287	0.04365336	0.06841	0.059810083	0.11286	-3.325	0.15697	T	.	.	0.072	0.24700	B	.;.;.;.	.;.;.;.	1.280063	0.16797	12.77	0.58763031140809452	0.06067	0.04528	0.10159	N	AEFDBI	0.084067	0.17035	N	-0.949101913940032	0.09712	0.4608969	-0.975239729763172	0.10343	0.5203312	0.992690498278425	0.32934	0.634777	0.41761	0	0.563428	0.19063	0	0.658983	0.55881	0	0.645665	0.59343	0	.	.	4.82	1.77	0.23848	0.394000	0.20559	2.098000	0.30587	0.549000	0.26987	0.000000	0.06391	0.007000	0.19602	0.007000	0.07825	0.0:0.5953:0.3146:0.0901	7.591	0.27190	523	0.74147	.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2124.98	35	chr1	31793844	.	C	T	2124.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.25;DP=874;ExcessHet=0.0000;FS=12.849;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.53;ReadPosRankSum=1.08;SOR=0.244	GT:AD:DP:GQ:PL	0/1:74,83:157:99:2139,0,1643	20	0	1	0
chr1	31814270	31814270	T	C	exonic	SPOCD1	.	nonsynonymous SNV	SPOCD1:NM_001281987:exon2:c.A1064G:p.Q355R	.	.	425	1095	2	0	0	2	0.000912409	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.84	T	0.0	B	0.0	B	.	.	1.000	N	0	N	1.95	T	-1.005	T	0.012	T	0.022	-1.558	0.015	-3.82	-1.352	-0.858	0.197	0.062	.	0.0054	0.00838658	0.0070	0.0089	0.0015	0.0161	0.0028	0.0075	0.0127	0.0041	0.0054656	845	154602	rs112651926	0.0048	0.0048	0.0049	0.0047	0.0129	0.0047	0.0047	0.0120	0.0116	0.0071	0.0011	0.0004	0.0129	0.0026	0.0011	0.0049	0.0051	0.0034	0.0055	0.0055	0.0056	0.0054	0.0154	0.0052	0.0051	0.0127	0.0117	0.0076	0	0.0024	0.0009	0.0154	0.0026	0.0068	0.0049	0.0066	0.0062	0.85	0.02739	T	0.851	0.03497	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	0	0.06538	N	1.95	0.22474	T	0.14	0.05405	N	0.011	0.00142	-1.0046	0.28577	T	0.012	0.04416	T	9	0.0023302734	0.00034	T	.	.	.	0.062	0.17934	.	.	0.0297737177859	0.01360	0.034037562920200735	0.03351	0.151952484149	0.17149	0.228732436895	0.01876	T	0.00219	0.01594	T	-0.759612	0.00015	T	-0.852875	0.00924	T	0.000154175097122788	0.00001	T	0.138586	0.01107	T	0.020220365	0.00573	0.031731676	0.01804	0.020220365	0.00573	0.031731676	0.01804	-3.419	0.15573	T	.	.	0.070	0.06159	B	.;.	.;.	-0.409057	0.02180	0.214	0.078803564695453618	0.00052	0.00723	0.03043	N	AEFDGBI	0.038248	0.05385	N	-2.00340974155205	0.00208	0.008915649	-2.0307080453539	0.00264	0.01162791	0.995730478262594	0.34294	0.556989	0.30585	1	0.573888	0.26702	0	0.504386	0.09223	2	0.613276	0.41899	0	.	.	3.41	-3.82	0.04000	-0.842000	0.04462	-0.734000	0.07648	-1.671000	0.00800	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.2847:0.2712:0.1882:0.2558	0.197	0.00131	523	0.74147	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	992.98	34	chr1	31814270	.	T	C	992.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.028e+00;DP=917;ExcessHet=0.0000;FS=2.046;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.60;ReadPosRankSum=-5.580e-01;SOR=0.703	GT:AD:DP:GQ:PL	0/1:29,39:68:99:1007,0,831	20	0	1	0
chr1	31814289	31814289	T	C	exonic	SPOCD1	.	nonsynonymous SNV	SPOCD1:NM_001281987:exon2:c.A1045G:p.T349A	.	.	423	1097	2	0	0	2	0.000910747	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.69	T	0.0	B	0.0	B	.	.	1.000	N	-0.345	N	2.24	T	-0.976	T	0.010	T	0.032	-1.305	0.036	-3.36	-1.059	-0.849	5.977	0.000	.	0.0054	0.00838658	0.0068	0.0089	0.0015	0.0147	0.0030	0.0073	0.0121	0.0040	0.0054786	847	154602	rs112752591	0.0048	0.0048	0.0049	0.0048	0.0130	0.0047	0.0047	0.0120	0.0117	0.0070	0.0011	0.0004	0.0130	0.0027	0.0011	0.0049	0.0051	0.0033	0.0055	0.0055	0.0056	0.0054	0.0153	0.0052	0.0051	0.0125	0.0115	0.0076	0	0.0024	0.0009	0.0153	0.0026	0.0068	0.0049	0.0066	0.0062	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	-0.805	0.01590	N	2.24	0.18248	T	0.97	0.01467	N	0.024	0.00445	-0.9760	0.35904	T	0.010	0.03811	T	9	0.0028995872	0.00046	T	.	.	.	0.000	0.00003	.	.	0.0401082797425	0.02173	0.04081632709269528	0.04026	0.138332810546	0.15603	0.273158609867	0.06557	T	4.97E-4	0.00182	T	-0.769884	0.00013	T	-0.867631	0.00765	T	9.25803469726816e-05	0.00001	T	0.177782	0.01744	T	0.024993347	0.01388	0.039452143	0.04043	0.024993347	0.01388	0.039452143	0.04043	-2.313	0.04790	T	.	.	0.064	0.02829	B	.;.	.;.	-0.652692	0.01434	0.086	0.14908233024910975	0.00346	0.00169	0.01001	N	AEFDGBIJ	0.024553	0.01540	N	-1.7617225016692	0.00646	0.02785967	-1.77617633518379	0.00838	0.0374577	0.990394474922838	0.32139	0.556989	0.30585	1	0.573888	0.26702	0	0.504386	0.09223	2	0.613276	0.41899	0	.	.	3.95	-3.36	0.04606	-0.843000	0.04457	-0.121000	0.11721	-0.895000	0.02364	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.0:0.2128:0.4139:0.3732	5.977	0.18615	523	0.74147	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1081.98	34	chr1	31814289	.	T	C	1081.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.547;DP=921;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.03;ReadPosRankSum=0.733;SOR=0.693	GT:AD:DP:GQ:PL	0/1:34,38:72:99:1096,0,924	20	0	1	0
chr1	31815123	31815123	G	A	exonic	SPOCD1	.	nonsynonymous SNV	SPOCD1:NM_001281987:exon2:c.C211T:p.R71W	.	.	433	1087	2	0	0	2	0.000919118	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.16	T	0.001	B	0.0	B	.	.	1.000	N	0	N	1.76	T	-1.038	T	0.017	T	0.12	1.018	9.158	-2.35	-0.492	-0.283	0.535	0.015	.	0.0042	0.00658946	0.0053	0.0012	0.0006	0.0135	0.0023	0.0062	0.0078	0.0039	0.0051875	802	154602	rs112754928	0.0047	0.0047	0.0047	0.0047	0.0130	0.0046	0.0046	0.0121	0.0117	0.0009	0.0006	0.0004	0.0130	0.0028	0.0007	0.0050	0.0048	0.0040	0.0037	0.0037	0.0038	0.0037	0.0151	0.0035	0.0033	0.0124	0.0114	0.0013	0	0.0014	0.0009	0.0151	0.0025	0.0034	0.0049	0.0057	0.0070	0.158	0.23905	T	0.13	0.34837	T	0.0	0.07471	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	0.345	0.11182	N	1.76	0.26152	T	-0.22	0.10480	N	0.17	0.18103	-1.0376	0.18048	T	0.017	0.07140	T	9	0.003213495	0.00055	T	.	.	.	0.015	0.02232	.	.	0.0297737177859	0.01360	0.08131461214446047	0.08066	0.146708655971	0.16557	0.330306529999	0.14981	T	0.002241	0.01642	T	-0.657313	0.00065	T	-0.70593	0.05508	T	0.00126627134160252	0.00012	T	0.448855	0.12628	T	0.03260822	0.03319	0.028065838	0.01010	0.03260822	0.03319	0.028065838	0.01009	-5.418	0.41121	T	.	.	0.115	0.24901	B	.;.	.;.	0.484273	0.08535	5.300	0.90893652374254885	0.20142	0.01412	0.04773	N	AEFDBI	0.088461	0.17935	N	-1.63868966651225	0.01083	0.04703285	-1.67298024218072	0.01262	0.05687773	0.999785590694875	0.43007	0.475973	0.10046	0	0.573888	0.26702	0	0.670488	0.60580	0	0.613276	0.41899	0	.	.	3.39	-2.35	0.06302	-0.275000	0.08557	0.399000	0.17978	-2.822000	0.00180	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.3213:0.1574:0.3333:0.1881	0.535	0.00594	523	0.74147	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1235.98	38	chr1	31815123	.	G	A	1235.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.83;DP=875;ExcessHet=0.0000;FS=0.823;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.54;ReadPosRankSum=-1.355e+00;SOR=0.551	GT:AD:DP:GQ:PL	0/1:41,44:85:99:1250,0,1022	20	0	1	0
chr1	33479410	33479410	G	A	exonic	ZSCAN20	.	nonsynonymous SNV	ZSCAN20:NM_001377376:exon2:c.G122A:p.R41H	.	.	428	1079	15	0	0	15	0.0069029	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.27	T	0.001	B	0.002	B	0.317	N	1.000	N	0.55	N	4.41	T	-0.907	T	0.006	T	0.035	0.509	6.762	-2.62	-0.509	-2.733	8.872	0.007	0.00477477225566	0.0011	0.000399361	0.0013	0.0003	0.0009	0	0.0002	0.0014	0.0022	0.0030	0.0012419	192	154602	rs199637332	0.0010	0.0010	0.0009	0.0012	0.0144	0.0010	0.0010	0.0119	0.0110	5.974e-05	0.0011	0.0075	0	1.872e-05	0.0144	0.0007	0.0018	0.0035	0.0009	0.0009	0.0009	0.0008	0.0027	0.0007	0.0007	0.0016	0.0013	0.0002	0	0.0015	0.0078	0	0	0.0068	0.0009	0	0.0027	0.334	0.12961	T	0.462	0.19721	T	0.0	0.07471	B	0.0	0.06944	B	0.316649	0.04048	N	1.487730	1	0.08975	N	-0.22	0.03977	N	3.21	0.07125	T	-0.31	0.12099	N	0.042	0.06059	-0.9066	0.47262	T	0.006	0.02093	T	10	0.005155593	0.00112	T	0.004775	0.11910	T	0.007	0.00512	.	.	0.0482279557977	0.04254	0.2575827791341176	0.25672	0.258236123232	0.28380	0.199387297034	0.00439	T	0.015379	0.12914	T	-0.765702	0.00014	T	-0.875075	0.00696	T	0.000708654985634942	0.00006	T	0.29617	0.05481	T	0.017653516	0.00291	0.022586675	0.00280	0.017653516	0.00291	0.022586675	0.00280	-4.855	0.40396	T	.	.	0.122	0.25495	B	.;.	.;.	-0.818609	0.01071	0.047	0.61873385823300897	0.06819	0.00570	0.02584	N	AEFBI	0.022931	0.01210	N	-1.55221207486363	0.01522	0.06644917	-1.60877946286857	0.01603	0.07270228	0.221076865260173	0.18355	0.615465	0.37627	0	0.546412	0.12157	0	0.658983	0.55881	0	0.491896	0.07777	0	.	.	3.85	-2.62	0.05793	-2.949000	0.00744	-4.314000	0.02222	-0.704000	0.03997	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.4737:0.0:0.5263:0.0	8.872	0.34479	392	0.83172	.;.	.	.	.	.	.	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	1594.98	78	chr1	33479410	.	G	A	1594.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.411;DP=890;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.39;ReadPosRankSum=-5.280e-01;SOR=0.654	GT:AD:DP:GQ:PL	0/1:74,66:140:99:1609,0,1875	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	0/1:3,15,0:18:41:.:.:422,0,41,431,86,518	0	12	8	0
chr1	40835000	40835000	C	G	exonic	KCNQ4	.	nonsynonymous SNV	KCNQ4:NM_172163:exon11:c.C1485G:p.F495L	Deafness, autosomal dominant 2A, Autosomal dominant	.	0	1519	3	0	0	3	0.000986518	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.999	D	0.000	D	1.000	D	2.89	M	-7.35	D	-0.185	T	0.402	T	0.674	4.080	21.0	5.12	2.556	3.176	9.976	0.255	0.247178143203	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1362729181	2.052e-06	2.052e-06	0	4.126e-06	1.159e-05	5.5e-07	1.5e-07	3e-07	1.1e-07	0	0	0	0	0	0	1.799e-06	0	1.159e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.91255	D	0.004	0.76473	D	0.999	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	0.999997	0.58761	D	3.38	0.91446	M	-7.35	0.99869	D	-5.39	0.85617	D	0.928	0.93252	-0.1846	0.78064	T	0.402	0.75331	T	10	0.89689815	0.89045	D	0.247178	0.88958	D	0.851	0.95396	0.748	0.87905	0.969843054408	0.96951	0.8235286827099402	0.82309	2.25880593895	0.96158	0.889918684959	0.95250	D	0.97395	0.99733	D	0.271944	0.80615	D	0.249707	0.85607	D	0.995166182518005	0.86943	D	0.998857	0.99396	D	0.93243474	0.94481	0.83115786	0.90260	0.93243474	0.94482	0.83115786	0.90260	-11.408	0.81848	D	0.6888235918239645	0.76625	1.000	0.99585	P	.;.;.	.;.;.	4.668792	0.74591	26.2	0.99884928651743587	0.96049	0.92713	0.56364	D	AEFDGBI	0.613536	0.60119	D	0.448943527234692	0.64143	4.66234	0.472180803026082	0.66153	4.915186	0.99999988767714	0.74766	0.706298	0.61202	0	0.588066	0.40923	0	0.709663	0.75317	0	0.530356	0.10902	0	.	.	5.12	5.12	0.69459	1.343000	0.33535	3.275000	0.37188	0.585000	0.30472	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.9067:0.0:0.0933	9.976	0.40957	681	0.59854	Potassium channel, voltage dependent, KCNQ, C-terminal;Potassium channel, voltage dependent, KCNQ, 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	0.02381	1467.98	33	chr1	40835000	.	C	G	1467.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.090e-01;DP=815;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.03;ReadPosRankSum=0.502;SOR=0.693	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:59,63:122:99:0|1:40835000_C_G:1482,0,2186:40835000	20	0	1	0
chr1	41510704	41510704	C	T	exonic	HIVEP3	.	nonsynonymous SNV	HIVEP3:NM_001127714:exon8:c.G6965A:p.R2322Q	.	.	441	1015	63	3	0	69	0.0328728	.	.	3210888	HIVEP3-related_disorder	.	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.42	T	0.003	B	0.001	B	0.526	N	1.000	N	0	N	3.4	T	-0.929	T	0.009	T	0.068	0.732	7.889	0.154	-0.132	0.231	1.573	0.034	.	0.0033	0.0117812	0.0356	0.0037	0.0047	0	0.0112	0.0201	0.04	0.0835	0.0068046	1052	154602	rs200138511	0.0077	0.0077	0.0066	0.0088	0.0436	0.0076	0.0075	0.0424	0.0419	0.0010	0.0022	0.0082	8.225e-05	0.0020	0.0284	0.0059	0.0077	0.0436	0.0056	0.0056	0.0049	0.0064	0.0464	0.0053	0.0052	0.0414	0.0395	0.0016	0.0044	0.0052	0.0052	0.0004	0.0011	0.0442	0.0063	0.0038	0.0464	0.416	0.09958	T	0.538	0.09829	T	0.003	0.11197	B	0.001	0.04355	B	0.525819	0.05228	N	1.391920	1	0.08975	N	0	0.06538	N	3.39	0.05710	T	0.64	0.02442	N	0.08	0.05542	-0.9292	0.44256	T	0.009	0.03227	T	10	0.0020682514	0.00029	T	.	.	.	0.034	0.08419	.	.	.	.	0.03731201195281724	0.03678	0.214794834796	0.24017	0.266823649406	0.05730	T	0.046228	0.27362	T	-0.750832	0.00017	T	-0.81916	0.01470	T	0.00646410931088923	0.00072	T	0.60194	0.22516	T	0.027802156	0.02024	0.022926616	0.00310	0.027802156	0.02024	0.022926616	0.00310	-3.947	0.23143	T	.	.	0.069	0.03231	B	.;.;.	.;.;.	0.081924	0.04879	1.465	0.97642700603971289	0.35091	0.08842	0.14710	N	AEFBHI	0.070481	0.13993	N	-1.0625697389421	0.07343	0.3407994	-1.03510641758133	0.09019	0.4464783	0.987168077761876	0.31199	0.615465	0.37627	0	0.633656	0.55848	0	0.576033	0.28219	0	0.567892	0.33627	0	.	.	4.9	0.154	0.14196	0.004000	0.13007	-2.331000	0.03890	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.915000	0.45038	0.1449:0.3654:0.2839:0.2058	1.573	0.02460	455	0.79073	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	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	757.98	36	chr1	41510704	.	C	T	757.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.41;DP=977;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.85;ReadPosRankSum=0.626;SOR=0.661	GT:AD:DP:GQ:PL	0/1:33,26:59:99:772,0,893	20	0	1	0
chr1	43441554	43441554	T	C	exonic	SZT2	.	nonsynonymous SNV	SZT2:NM_015284:exon53:c.T7391C:p.V2464A	Epileptic encephalopathy, early infantile, 18, Autosomal recessive	.	417	1087	17	1	0	19	0.00866393	.	.	237176	SZT2-related_disorder|not_provided|Inborn_genetic_diseases|Developmental_and_epileptic_encephalopathy,_18	.|MedGen:C3661900|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0014201,MedGen:C3809624,OMIM:615476,Orphanet:369894	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.07	T	0.4	B	0.121	B	0.012	N	1.000	N	1.04	L	.	.	-1.009	T	0.061	T	0.255	2.501	14.32	4.42	2.141	5.154	13.992	0.034	0.00470960270413	0.0039	0.000798722	0.0053	0.0011	0.0019	0	0.0005	0.0086	0.0044	0.0015	0.0052587	813	154602	rs150113647	0.0045	0.0045	0.0046	0.0044	0.0053	0.0044	0.0043	0.0052	0.0051	0.0008	0.0028	0.0018	0	0.0011	0.0047	0.0053	0.0040	0.0013	0.0033	0.0033	0.0035	0.0031	0.0059	0.0031	0.0030	0.0054	0.0052	0.0010	0	0.0026	0.0012	0	0.0006	0.0068	0.0059	0.0024	0.0008	0.033	0.44358	D	0.008	0.67890	D	0.4	0.34852	B	0.121	0.32300	B	0.012492	0.29156	N	0.334680	0.999999	0.08975	N	1.67	0.42885	L	.	.	.	-1.83	0.42957	N	0.706	0.70966	-1.0086	0.27354	T	0.061	0.25383	T	9	0.009698093	0.00218	T	0.00471	0.11722	T	.	.	.	.	0.501874446873	0.49824	0.5733369692536592	0.57262	0.525076752411	0.50180	0.432314991951	0.29525	T	0.113489	0.43057	T	-0.399741	0.02324	T	-0.340438	0.40294	T	0.00609547073741499	0.00067	T	0.518148	0.16784	T	0.03678032	0.04591	0.093024164	0.21952	0.039399084	0.05433	0.08782407	0.20439	-3.095	0.11239	T	0.2323983399921941	0.31454	0.176	0.38534	B	.;.	.;.	3.281105	0.44954	22.0	0.99446806567216017	0.65071	0.92859	0.56721	D	AEFDGBCI	0.317305	0.42134	N	0.100715217444389	0.46496	2.889063	0.233314450735381	0.51704	3.350794	0.788456764300544	0.23972	0.67177	0.52595	0	0.702456	0.74545	0	0.696353	0.63694	0	0.636168	0.56350	0	.	.	5.61	4.42	0.52775	4.090000	0.57417	4.280000	0.42877	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.918000	0.45347	0.0:0.0:0.1343:0.8657	13.992	0.63886	782	0.47442	.;.	.	.	.	.	.	Likely benign	0	0	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	0.04762	3364.11	36	chr1	43441554	.	T	C	3364.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-5.450e-01;DP=998;ExcessHet=0.1072;FS=2.903;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=14.13;ReadPosRankSum=2.07;SOR=0.901	GT:AD:DP:GQ:PL	0/1:49,61:110:99:1572,0,1396	19	0	2	0
chr1	46673263	46673263	C	T	exonic	TEX38	.	nonsynonymous SNV	TEX38:NM_001145474:exon2:c.C428T:p.S143F	.	.	428	1023	66	5	0	76	0.0358153	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0050	0.00798722	0.0150	0.0014	0.0130	0	0.0185	0.0115	0.0122	0.0235	0.0030271	468	154602	rs139847766	0.0068	0.0065	0.0061	0.0074	0.0228	0.0066	0.0066	0.0219	0.0215	0.0009	0.0025	0.0170	8.394e-05	0.0214	0.0183	0.0051	0.0075	0.0228	0.0069	0.0069	0.0058	0.0081	0.0251	0.0065	0.0064	0.0214	0.0201	0.0010	0	0.0025	0.0159	0	0.0263	0.0204	0.0073	0.0052	0.0251	0.002	0.91255	D	0.004	0.74150	D	0.019	0.17989	B	0.022	0.19653	B	.	.	.	.	0.999999	0.08975	N	1.7	0.43825	L	-1.05	0.76690	T	-3.38	0.78135	D	0.059	0.08646	.	.	.	.	.	.	.	0.003181696	0.00053	T	.	.	.	.	.	.	.	.	.	0.3266098415028297	0.32573	.	.	0.371366500854	0.21029	T	0.049521	0.32485	T	-0.408703	0.02028	T	-0.341597	0.40164	T	.	.	.	0.553645	0.19140	T	0.24107373	0.47018	0.2824542	0.54233	0.24107373	0.47018	0.2824542	0.54232	-4.009	0.23938	T	.	.	0.137	0.30211	B	.;.;.	.;.;.	2.704225	0.35333	19.87	0.99672898469081317	0.78717	0.08995	0.14837	N	AEFDBCI	0.084133	0.17050	N	.	.	.	.	.	.	0.984711121805387	0.30763	0.498214	0.20090	0	0.379588	0.06130	0	0.514364	0.09456	0	0.711	0.71501	0	.	.	4.87	2.91	0.32903	0.783000	0.26463	1.811000	0.28962	0.524000	0.24156	0.003000	0.16062	0.092000	0.22550	0.618000	0.31844	0.1893:0.7116:0.0:0.0992	5.869	0.18039	186	0.92733	.;.;.	.	.	.	.	rs139847766	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	5430.11	107	chr1	46673263	.	C	T	5430.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=2.41;DP=1964;ExcessHet=0.1072;FS=0.754;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=13.68;ReadPosRankSum=0.385;SOR=0.647	GT:AD:DP:GQ:PL	0/1:113,94:207:99:2604,0,3045	19	0	2	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	1|1:0,32,0:32:97:1|1:50419101_CCGGCGG_C:1297,97,0,1297,97,1297:50419101	0	2	0	0
chr1	52361541	52361546	TCCTCC	-	exonic	CC2D1B	.	nonframeshift deletion	CC2D1B:NM_001330585:exon4:c.285_290del:p.E96_E97del	.	.	395	1107	16	4	0	24	0.0107239	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0777	0.00698882	0.0068	0.0008	0.0058	0	0.0011	0.0074	0.0094	0.0146	0.0047641	124	26028	rs530661837	0.0077	0.0077	0.0075	0.0079	0.0137	0.0076	0.0075	0.0124	0.0121	0.0010	0.0064	0.0041	0	0.0011	0.0137	0.0082	0.0078	0.0130	0.0058	0.0058	0.0064	0.0051	0.0128	0.0055	0.0053	0.0102	0.0093	0.0015	0	0.0071	0.0064	0	0.0010	0	0.0089	0.0057	0.0128	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	2059.07	40	chr1	52361540	.	TTCCTCC	T	2059.07	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.268;DP=849;ExcessHet=0.1072;FS=0.000;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=12.26;ReadPosRankSum=2.33;SOR=0.649	GT:AD:DP:GQ:PL	0/1:53,37:90:99:1379,0,2093	19	0	2	0
chr1	52905084	52905084	G	A	exonic	ECHDC2	.	nonsynonymous SNV	ECHDC2:NM_001198962:exon5:c.C371T:p.S124L	.	.	416	1104	2	0	0	2	0.000904977	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	T	0.948	P	0.57	P	0.023	N	1.000	D	2.715	M	-1.14	T	0.168	D	0.536	D	0.526	2.840	15.46	4.9	2.410	6.640	17.212	0.514	0.0417302647951	7.7e-05	0.000399361	0.0004	9.653e-05	0.0002	0	0	1.503e-05	0	0.0026	0.0003299	51	154602	rs375624978	0.0002	0.0002	0.0001	0.0003	0.0031	0.0002	0.0002	0.0028	0.0027	0.0002	6.708e-05	0	0	0	0.0005	1.709e-05	0.0002	0.0031	0.0002	0.0002	0.0001	0.0003	0.0029	0.0001	0.0001	0.0018	0.0014	0.0003	0	0	0	0	0	0	4.411e-05	0	0.0029	0.03	0.47745	D	0.108	0.45110	T	0.948	0.53620	P	0.57	0.49854	P	0.022695	0.26585	N	0.417680	0.999727	0.48557	D	2.38	0.68558	M	-1.14	0.77843	T	-4.61	0.79060	D	0.575	0.64903	0.168	0.85368	D	0.536	0.82835	D	10	0.030643463	0.01192	T	0.04173	0.60083	D	0.514	0.79217	.	.	0.868485963682	0.86720	0.659954131989251	0.65932	0.475177538353	0.46692	0.554033994675	0.46426	T	0.014203	0.58133	T	-0.241964	0.15100	T	-0.124957	0.61393	T	0.144382296566244	0.16647	T	0.921108	0.96026	D	0.35392815	0.57371	0.21173695	0.45614	0.35392815	0.57371	0.21173695	0.45613	-12.441	0.86933	D	.	.	0.154	0.43855	B	.;.;.;.	.;.;.;.	4.920427	0.81031	27.5	0.99823837496535095	0.90677	0.80258	0.39943	D	ALL	0.847318	0.76417	D	0.345839173879869	0.58521	4.024766	0.257397768351661	0.53071	3.477989	0.999999999944566	0.74766	0.839682	0.99964	0	0.779548	0.99637	0	0.736553	0.94036	0	0.699908	0.69081	0	.	.	4.9	4.9	0.63643	6.821000	0.75062	9.897000	0.82319	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.391000	0.26581	0.0:0.0:1.0:0.0	17.212	0.86813	141	0.94388	.;.;.;.	.	.	.	.	.	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	559.98	33	chr1	52905084	.	G	A	559.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.561;DP=731;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.73;ReadPosRankSum=0.752;SOR=0.657	GT:AD:DP:GQ:PL	0/1:21,23:44:99:574,0,483	20	0	1	0
chr1	54813813	54813813	-	A	splicing	LEXM	NM_152607:exon7:c.763-1->A;NM_001110533:exon7:c.763-1->A	.	.	.	.	425	1015	81	1	0	83	0.0392806	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0062	0.00778754	0.0106	0.0026	0.0041	0	0.0076	0.0104	0.0161	0.0281	0.0029968	78	26028	rs1308898806	0.0091	0.0091	0.0084	0.0097	0.0266	0.0089	0.0089	0.0257	0.0253	0.0012	0.0037	0.0030	2.534e-05	0.0099	0.0248	0.0085	0.0089	0.0266	0.0066	0.0066	0.0062	0.0070	0.0245	0.0063	0.0061	0.0209	0.0196	0.0016	0.0033	0.0035	0.0032	0.0002	0.0096	0.0103	0.0093	0.0081	0.0245	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09524	2413.86	34	chr1	54813813	.	G	GA	2413.86	.	AC=4;AF=0.095;AN=42;BaseQRankSum=1.14;DP=763;ExcessHet=0.0082;FS=5.683;InbreedingCoeff=0.4474;MLEAC=4;MLEAF=0.095;MQ=60.00;MQRankSum=0.00;QD=17.75;ReadPosRankSum=1.76;SOR=0.368	GT:AD:DP:GQ:PL	0/1:19,16:35:99:359,0,465	18	1	2	0
chr1	61769355	61769355	A	G	exonic	PATJ	.	nonsynonymous SNV	PATJ:NM_001350145:exon5:c.A457G:p.R153G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.953	P	0.841	P	0.001	D	1.000	N	2.14	M	1.72	T	-1.045	T	0.041	T	0.211	1.786	11.93	-1.84	-0.229	2.950	10.519	0.099	.	0.0088	0.0107827	0.0028	0.0271	0.0033	0	0	0.0003	0	0	0.0026908	416	154602	rs61750905	0.0011	0.0011	0.0012	0.0010	0.0297	0.0010	0.0010	0.0282	0.0275	0.0297	0.0030	0.0008	0	0	0.0031	0.0003	0.0022	4.637e-05	0.0081	0.0082	0.0085	0.0078	0.0271	0.0078	0.0076	0.0258	0.0252	0.0271	0	0.0050	0.0006	0	0	0.0034	0.0003	0.0080	0.0002	0.002	0.72154	D	0.007	0.74150	D	0.762	0.43602	P	0.634	0.51870	P	0.000582	0.43095	D	0.147973	1	0.08975	N	1.89	0.50145	L	1.72	0.26588	T	-4.83	0.80943	D	0.439	0.49874	-1.0449	0.15854	T	0.041	0.17488	T	10	0.0057317615	0.00128	T	.	.	.	0.099	0.28413	.	.	0.555475725382	0.55207	0.5214118516221714	0.52064	0.529609236824	0.50521	0.357104450464	0.18963	T	0.010518	0.40011	T	-0.512573	0.00485	T	-0.488103	0.23590	T	0.109615930164741	0.13383	T	0.89841	0.71149	D	0.5234195	0.68456	0.44105345	0.67403	0.5234195	0.68457	0.44105345	0.67403	-13.044	0.89544	D	.	.	0.185	0.40098	B	.;.;.;.	.;.;.;.	3.099050	0.41754	21.4	0.97802291538631125	0.36071	0.76553	0.37554	D	AEFBI	0.329296	0.42969	N	-0.359542322379787	0.26924	1.473178	-0.525904906099846	0.21451	1.160481	1.51622430798861E-4	0.05650	0.732398	0.92422	0	0.588066	0.40923	0	0.743671	0.96076	0	0.620846	0.47308	0	.	.	5.5	-1.84	0.07387	2.790000	0.47512	1.886000	0.29485	-0.174000	0.10959	0.921000	0.31989	0.545000	0.25436	0.106000	0.18562	0.3793:0.5111:0.0:0.1096	10.519	0.44095	928	0.17405	PDZ domain|PDZ domain|PDZ domain;PDZ domain|PDZ domain|PDZ domain;PDZ domain|PDZ domain|PDZ domain;PDZ domain|PDZ domain|PDZ domain	.	.	.	.	.	Likely benign	0	0	0	0	0	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	727.98	33	chr1	61769355	.	A	G	727.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.371;DP=800;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.25;ReadPosRankSum=0.208;SOR=0.767	GT:AD:DP:GQ:PL	0/1:38,33:71:99:742,0,883	20	0	1	0
chr1	74470631	74470631	T	A	exonic	LRRC53	.	nonsynonymous SNV	LRRC53:NM_001364666:exon4:c.A2895T:p.K965N	.	.	417	1102	2	0	1	3	0.000906618	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0103655502398	.	0.000399361	.	.	.	.	.	.	.	.	7.68e-05	2	26028	rs546580011	2.013e-05	1.113e-05	1.632e-05	2.384e-05	0.0006	7.89e-06	4.28e-06	0.0001	4.686e-05	0	0	0	0	0	0.0003	6.323e-06	6.04e-05	0.0006	4.6e-05	4.594e-05	3.857e-05	5.375e-05	0.0010	2.109e-05	1.527e-05	0.0004	0.0003	0	0	0	0	0	0	0	2.941e-05	0	0.0010	.	.	.	0.164	0.31026	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	0.57	0.54347	T	.	.	.	0.078	0.05287	.	.	.	.	.	.	.	0.03579682	0.01845	T	0.010366	0.26828	T	.	.	.	.	0.323886383625	0.31992	0.0024374868710400188	0.00225	.	.	.	.	.	3.47E-4	0.00097	T	-0.381154	0.03064	T	-0.785278	0.02298	T	.	.	.	0.273073	0.04629	T	0.024917426	0.01372	0.038721062	0.03805	0.024917426	0.01371	0.038721062	0.03804	-3.153	0.11915	T	.	.	0.095	0.14797	B	.	.	-0.676854	0.01376	0.078	0.34227933201694122	0.02082	0.01231	0.04354	N	AEFBIJ	0.043432	0.06866	N	.	.	.	.	.	.	0.150490691446347	0.17431	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.92	-8.83	0.00696	-0.974000	0.03904	-1.328000	0.05705	-0.311000	0.06080	0.000000	0.06391	0.000000	0.08366	0.036000	0.13842	0.3393:0.1506:0.256:0.254	0.412	0.00413	821	0.40814	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2369.98	34	chr1	74470631	.	T	A	2369.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.411;DP=867;ExcessHet=0.0000;FS=3.513;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.78;ReadPosRankSum=-1.193e+00;SOR=0.913	GT:AD:DP:GQ:PL	0/1:86,86:172:99:2384,0,2345	20	0	1	0
chr1	78635486	78635486	T	A	exonic	IFI44L	.	stopgain	IFI44L:NM_001375648:exon2:c.T99A:p.Y33X	.	.	411	1105	6	0	0	6	0.00270758	.	.	1311624	Multisystem_inflammatory_syndrome_in_children	MedGen:C5391534	no_assertion_criteria_provided	risk_factor	.	.	.	.	.	.	.	.	1	T	.	.	.	.	0.000	D	1.000	A	.	.	.	.	.	.	.	.	.	5.126	32	-2.24	-0.523	-1.222	9.426	.	.	0.0055	0.00259585	0.0053	0.0009	0.0030	0	0.0041	0.0079	0.0033	0.0025	0.0054527	843	154602	rs115901054	0.0066	0.0066	0.0068	0.0065	0.0075	0.0065	0.0065	0.0074	0.0073	0.0009	0.0034	0.0107	0.0001	0.0052	0.0064	0.0075	0.0058	0.0021	0.0047	0.0048	0.0050	0.0045	0.0076	0.0044	0.0043	0.0070	0.0068	0.0013	0.0044	0.0025	0.0081	0	0.0062	0.0034	0.0076	0.0043	0.0014	.	.	.	.	.	.	.	.	.	.	.	.	0.000003	0.62929	D	0.000000	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.838	0.83371	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.147132	0.68998	D	0.450892	0.93599	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerant|Recessive	High|High	4.633495	0.73696	26.0	0.98933377569847369	0.48788	0.30156	0.24009	N	AEFBCI	0.161964	0.28809	N	-0.0494834913202156	0.39624	2.339809	-0.367723905673922	0.25967	1.431263	0.0279157749496221	0.13801	0.634777	0.41761	0	0.643519	0.57511	0	0.573888	0.23631	0	0.668105	0.65232	0	.	.	4.54	-2.24	0.06518	-1.512000	0.02362	-3.937000	0.02441	0.550000	0.28109	0.017000	0.19353	0.000000	0.08366	0.838000	0.39538	0.0:0.4319:0.0:0.5681	9.426	0.37742	590	0.68897	GTP binding 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	0.02381	949.98	33	chr1	78635486	.	T	A	949.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.926e+00;DP=759;ExcessHet=0.0000;FS=4.994;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.18;ReadPosRankSum=-3.670e-01;SOR=1.394	GT:AD:DP:GQ:PL	0/1:29,38:67:99:964,0,763	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	0/1:49,17:66:99:.:.:315,0,1212	1	0	17	3
chr1	85730622	85730622	A	G	exonic	COL24A1	.	nonsynonymous SNV	COL24A1:NM_001349955:exon60:c.T2969C:p.I990T	.	.	438	1080	4	0	0	4	0.00184843	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.16	T	0.011	B	0.034	B	0.002	N	0.980	N	0.805	L	-0.74	T	-0.989	T	0.114	T	0.13	0.533	6.886	3.3	0.969	1.814	8.855	0.079	.	0.0009	0.00119808	0.0021	0	0.0003	0	0.0162	0.0015	0.0022	0.0022	0.0017788	275	154602	rs189025471	0.0015	0.0015	0.0014	0.0016	0.0023	0.0014	0.0014	0.0021	0.0020	0.0001	0.0002	0	0	0.0162	0.0005	0.0009	0.0014	0.0023	0.0017	0.0017	0.0012	0.0022	0.0019	0.0015	0.0015	0.0011	0.0010	2.405e-05	0	0.0003	0	0	0.0146	0	0.0013	0.0005	0.0019	0.102	0.30235	T	0.045	0.49390	D	0.006	0.13644	B	0.034	0.22546	B	0.001829	0.37892	N	0.000000	0.979951	0.25146	N	1.28	0.32218	L	-0.74	0.73205	T	-2.06	0.47175	N	0.109	0.09490	-0.9892	0.32803	T	0.114	0.40490	T	10	0.005934775	0.00133	T	.	.	.	0.079	0.23065	.	.	0.539251968656	0.53577	0.36120485589810514	0.36034	0.0436724569655	0.04704	0.369047820568	0.20696	T	0.086233	0.37679	T	-0.45802	0.01011	T	-0.433112	0.29582	T	0.0222092066859869	0.00933	T	0.456654	0.13107	T	0.057280067	0.11379	0.0721206	0.15522	0.057280067	0.11378	0.0721206	0.15521	-7.1	0.54760	T	.	.	0.056	0.00505	B	.	.	1.799983	0.22880	15.80	0.8314468362838997	0.14566	0.80909	0.40429	D	AEFBI	0.321263	0.42412	N	-0.408003121458458	0.25188	1.365493	-0.280666387387541	0.28735	1.604495	0.961502386616491	0.28559	0.693126	0.56070	0	0.659464	0.62310	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	5.58	3.3	0.36912	1.806000	0.38530	1.878000	0.29433	-0.045000	0.17359	0.708000	0.28703	0.929000	0.28499	0.879000	0.42020	0.8469:0.0:0.1531:0.0	8.855	0.34381	677	0.60274	Fibrillar collagen, C-terminal|Fibrillar collagen, C-terminal|Fibrillar collagen, C-terminal|Fibrillar collagen, C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1129.98	35	chr1	85730622	.	A	G	1129.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.950e-01;DP=808;ExcessHet=0.0000;FS=0.754;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.41;ReadPosRankSum=0.266;SOR=0.832	GT:AD:DP:GQ:PL	0/1:52,47:99:99:1144,0,1295	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	0/1:159,138,0,0:297:99:.:.:4972,0,5958,5451,6374,11825,5451,6374,11825,11825	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	0/1:159,138,0,0:297:99:.:.:4972,0,5958,5451,6374,11825,5451,6374,11825,11825	0	12	6	0
chr1	94055212	94055212	G	A	exonic	ABCA4	.	nonsynonymous SNV	ABCA4:NM_000350:exon16:c.C2486T:p.T829M,	Cone-rod dystrophy 3;Fundus flavimaculatus, Autosomal recessive;Retinal dystrophy, early-onset severe, Autosomal recessive;Retinitis pigmentosa 19;Stargardt disease 1, Autosomal recessive	.	0	1515	7	0	0	7	0.00230491	.	.	864870	not_provided|Retinal_dystrophy|ABCA4-related_disorder	MedGen:C3661900|Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862|MedGen:CN239167	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.23	T	0.007	B	0.017	B	0.067	N	1.000	N	-0.09	N	-3.47	D	-0.599	T	0.374	T	0.666	0.930	8.790	3.12	0.387	5.350	8.965	0.471	0.194180348299	0.0002	.	0.0001	0.0003	8.643e-05	0.0003	0	8.991e-05	0	0.0002	0.0001423	22	154602	rs139250920	0.0001	0.0001	0.0001	0.0001	0.0094	0.0001	0.0001	0.0074	0.0067	0.0004	6.708e-05	7.652e-05	0.0003	0	0.0094	7.464e-05	0.0001	8.115e-05	0.0003	0.0003	0.0003	0.0002	0.0006	0.0002	0.0002	0.0004	0.0004	0.0006	0	6.545e-05	0	0.0004	0	0	0.0002	0.0005	0	0.44	0.09264	T	0.314	0.19480	T	0.007	0.14184	B	0.017	0.18140	B	0.066672	0.21794	N	0.517808	0.992848	0.26009	N	-0.055	0.04927	N	-3.47	0.94546	D	1.58	0.00668	N	0.704	0.70790	-0.5993	0.64846	T	0.374	0.73257	T	10	0.07959357	0.12823	T	0.19418	0.86348	D	0.471	0.76487	.	.	0.834247670492	0.83267	0.4336615806288697	0.43283	0.0883837268346	0.09985	0.19406054914	0.00305	T	0.376374	0.73978	T	-0.0801636	0.39687	T	0.0290421	0.72216	D	0.0170043783631065	0.00449	T	0.715628	0.38584	T	0.019819403	0.00521	0.04557717	0.06162	0.02232489	0.00887	0.045260582	0.06049	-0.032	0.00361	T	.	.	0.050	0.01810	B	.;.	.;.	1.981107	0.25168	16.66	0.53777233123094659	0.05006	0.23018	0.21939	N	AEFBI	0.070139	0.13913	N	-0.594485920922465	0.19110	0.9976686	-0.406601384162508	0.24803	1.360294	0.999997728156487	0.74766	0.554377	0.28877	0	0.563428	0.19063	0	0.547309	0.15389	0	0.567892	0.33627	0	.	.	5.41	3.12	0.34986	5.338000	0.65718	3.590000	0.39186	-0.130000	0.13190	1.000000	0.71638	0.992000	0.31684	0.907000	0.44265	0.844:0.0:0.156:0.0	8.965	0.35033	631	0.64944	.;.	.	.	.	.	.	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	1671.98	33	chr1	94055212	.	G	A	1671.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.04;DP=821;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.38;ReadPosRankSum=-4.230e-01;SOR=0.706	GT:AD:DP:GQ:PL	0/1:59,66:125:99:1686,0,1315	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|1:81,23:104:99:0|1:99884396_T_C:234,0,1838:99884396	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|1:86,13:99:2:0|1:99884396_T_C:2,0,3262:99884396	6	0	15	0
chr1	100273406	100273406	A	G	exonic	RTCA	.	nonsynonymous SNV	RTCA:NM_003729:exon5:c.A427G:p.I143V	.	.	614	905	1	2	0	5	0.00275482	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.54	T	0.008	B	0.034	B	0.000	D	1.000	D	0.875	L	.	.	-1.042	T	0.071	T	0.367	2.141	13.12	5.61	2.147	5.419	14.390	0.093	0.00157397743222	.	0.000998403	0.0016	0	0.0004	0	0	0	0	0.0088	0.0007891	122	154602	rs552473755	0.0005	0.0005	0.0003	0.0007	0.0077	0.0004	0.0004	0.0072	0.0070	6.125e-05	9.769e-05	0	0	0	0	9.138e-06	0.0004	0.0077	0.0002	0.0002	7.709e-05	0.0004	0.0062	0.0002	0.0001	0.0045	0.0039	0	0	6.533e-05	0	0.0002	0	0	0	0.0005	0.0062	0.388	0.10909	T	0.738	0.05398	T	0.008	0.14655	B	0.034	0.22546	B	0.000000	0.84330	D	0.049052	0.999923	0.51308	D	1.325	0.33218	L	.	.	.	-0.48	0.15379	N	0.227	0.28264	-1.0422	0.16651	T	0.071	0.28871	T	9	0.009076536	0.00205	T	0.001574	0.02497	T	0.093	0.26882	0.625	0.76028	0.391156786388	0.38726	0.5664821063447204	0.56576	0.0949024375679	0.10718	0.39328867197	0.24133	T	0.066978	0.33082	T	-0.341719	0.05270	T	-0.260604	0.48763	T	0.0559138750148721	0.06509	T	0.867613	0.56877	D	0.09175174	0.21506	0.10788917	0.25981	0.09175174	0.21506	0.10788917	0.25981	-6.608	0.51115	T	.	.	0.062	0.01348	B	.;.	.;.	2.641138	0.34369	19.61	0.98344261162367064	0.40477	0.99130	0.91667	D	AEFBI	0.530971	0.55144	D	-0.0959055232880825	0.37572	2.18781	0.122047557469641	0.45678	2.826784	0.999997573802851	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.61	5.61	0.85347	5.342000	0.65740	6.942000	0.56995	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	1.0:0.0:0.0:0.0	14.390	0.66542	583	0.69484	RNA 3'-terminal phosphate cyclase 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	1257.98	33	chr1	100273406	.	A	G	1257.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.757e+00;DP=786;ExcessHet=0.0000;FS=1.585;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.10;ReadPosRankSum=-1.018e+00;SOR=0.499	GT:AD:DP:GQ:PL	0/1:53,51:104:99:1272,0,1446	20	0	1	0
chr1	108459069	108459069	G	T	exonic	NBPF6	.	nonsynonymous SNV	NBPF6:NM_001143988:exon9:c.G988T:p.D330Y	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06	T	0.561	P	0.032	B	.	.	1.000	N	0.59	N	3.65	T	-0.910	T	0.003	T	0.408	0.348	5.890	-0.444	-0.105	-0.358	3.910	0.025	0.0012615790085	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1227988926	9.617e-05	8.111e-05	6.762e-05	0.0001	0.0006	7.134e-05	6.24e-05	2.803e-05	2.175e-05	0	0	0.0013	0	0	0.0006	5.045e-05	0.0003	7.004e-05	3.789e-05	7.031e-05	6.903e-05	0	2.834e-05	1.006e-05	4.79e-06	.	.	0	0	0	0.0010	0	0	0	2.834e-05	0	0	0.001	0.78490	D	0.004	0.79402	D	0.561	0.38362	P	0.032	0.22131	B	.	.	.	.	1	0.08975	N	1.315	0.32790	L	3.46	0.05710	T	-2.2	0.49519	N	0.12	0.19325	-0.9104	0.46805	T	0.003	0.00994	T	9	0.046438932	0.03834	T	0.001262	0.01708	T	0.025	0.05312	0.38	0.39645	0.0954503805726	0.09146	0.012652330707646915	0.01224	.	.	0.517782270908	0.41314	T	0.047485	0.27738	T	-0.335969	0.05672	T	-0.535729	0.18718	T	0.287244468927383	0.24474	T	0.566543	0.20051	T	0.057154194	0.11340	0.077994354	0.17428	0.057154194	0.11340	0.077994354	0.17428	-5.485	0.41728	T	.	.	0.104	0.21578	B	.;.;.	.;.;.	0.849021	0.12210	8.756	0.85274926957356634	0.15792	0.01165	0.04195	N	AEFI	0.029360	0.02758	N	-1.08991110887903	0.06827	0.3154311	-1.21181217161193	0.05719	0.2733065	1.13855300211887E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.61	-0.444	0.11634	0.088000	0.14821	-9.893000	0.00764	-0.405000	0.05282	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.455:0.0:0.545:0.0	3.910	0.08702	882	0.29131	.;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	0.02778	64.16	4	chr1	108459069	.	G	T	64.16	.	AC=1;AF=0.028;AN=36;BaseQRankSum=-1.036e+00;DP=60;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0880;MLEAC=1;MLEAF=0.028;MQ=29.05;MQRankSum=0.00;QD=10.69;ReadPosRankSum=-1.036e+00;SOR=2.093	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:3,3:6:76:1|0:108459067_G_A:76,0,117:108459067	17	0	1	3
chr1	108852636	108852636	G	T	exonic	AKNAD1	.	nonsynonymous SNV	AKNAD1:NM_152763:exon2:c.C29A:p.T10K,	.	.	423	1094	5	0	0	5	0.00227998	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.106	B	0.037	B	0.195	N	1.000	N	1.87	L	3.11	T	-0.959	T	0.006	T	0.135	2.062	12.85	-3.49	-0.600	-0.072	0.472	0.016	0.00411374039312	0.0007	0.000998403	0.0009	0.0001	0.0016	0	0	0.0012	0	8.462e-05	0.0007697	119	154602	rs41279674	0.0007	0.0007	0.0007	0.0007	0.0018	0.0007	0.0007	0.0015	0.0013	0.0002	0.0018	0.0014	0	3.815e-05	0.0011	0.0008	0.0008	4.806e-05	0.0008	0.0008	0.0008	0.0007	0.0021	0.0007	0.0006	0.0015	0.0013	9.633e-05	0	0.0021	0.0017	0	0	0	0.0010	0.0038	0	0.009	0.58626	D	0.022	0.62352	D	0.106	0.26037	B	0.037	0.23121	B	0.194997	0.16747	N	0.580087	1	0.08975	N	1.4	0.35362	L	3.07	0.08810	T	-2.2	0.49519	N	0.147	0.15328	-0.9592	0.39330	T	0.006	0.02131	T	10	0.0068190396	0.00155	T	0.004114	0.09838	T	0.016	0.02506	.	.	0.0297737177859	0.01360	0.15224949985668484	0.15146	0.035799348414	0.03777	0.256818145514	0.04519	T	0.007924	0.07293	T	-0.608898	0.00129	T	-0.660646	0.08222	T	0.0189507665940176	0.00605	T	0.582642	0.21138	T	0.13580665	0.31506	0.12763754	0.30722	0.13580665	0.31506	0.12763754	0.30722	-3.046	0.11388	T	.	.	0.133	0.34970	B	.;.;.	.;.;.	-0.228276	0.02949	0.435	0.74276530274573827	0.10635	0.08699	0.14590	N	AEFDGBIJ	0.088413	0.17924	N	-1.06982855768474	0.07204	0.3339635	-1.17807962330172	0.06277	0.3016525	0.999973557904102	0.50053	0.437478	0.07067	0	0.59043	0.45803	0	0.547309	0.15389	0	0.603991	0.37454	0	.	.	5.64	-3.49	0.04424	-0.075000	0.11392	-0.075000	0.12249	-0.119000	0.14319	0.001000	0.13787	0.000000	0.08366	0.001000	0.02609	0.2297:0.238:0.2894:0.2428	0.472	0.00498	854	0.34840	.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2421.98	37	chr1	108852636	.	G	T	2421.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.668;DP=1060;ExcessHet=0.0000;FS=3.120;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.37;ReadPosRankSum=0.406;SOR=0.509	GT:AD:DP:GQ:PL	0/1:113,100:213:99:2436,0,2872	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	1/1:2,53,0:55:99:1521,115,0,1527,159,1570	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	1/1:2,53,0:55:99:1521,115,0,1527,159,1570	1	11	8	0
chr1	109508512	109508512	T	C	exonic	AMIGO1	.	nonsynonymous SNV	AMIGO1:NM_020703:exon2:c.A401G:p.Q134R,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4	T	0.0	B	0.0	B	0.458	N	1.000	N	0.345	N	0.41	T	-1.019	T	0.033	T	0.08	-0.740	0.846	3.48	0.986	-0.792	7.365	0.121	0.00810946109153	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.476	0.08335	T	0.54	0.09760	T	0.0	0.02946	B	0.0	0.01387	B	0.457897	0.12427	N	0.705168	1	0.08975	N	1.59	0.40313	L	0.41	0.57100	T	-0.97	0.25770	N	0.062	0.04668	-1.0186	0.24171	T	0.033	0.14073	T	10	0.06918228	0.09891	T	0.008109	0.21495	T	0.121	0.33580	0.482	0.56302	0.434676477133	0.43086	0.3770915481570459	0.37624	1.02418455402	0.75209	0.369402647018	0.20746	T	0.017066	0.13986	T	-0.254754	0.13521	T	-0.603713	0.12501	T	0.0488054864108562	0.05288	T	0.531447	0.17660	T	0.09019645	0.21098	0.06598651	0.13452	0.09019645	0.21098	0.06598651	0.13451	-2.464	0.05540	T	.	.	0.068	0.02894	B	.;.	.;.	1.850417	0.23505	16.04	0.70065704017583319	0.09174	0.14143	0.18246	N	AEFDBCI	0.089287	0.18097	N	-0.893064748432297	0.11007	0.528884	-0.828730428861116	0.13800	0.7178417	0.995105370376669	0.33954	0.676563	0.55306	0	0.610034	0.51514	0	0.673471	0.61138	0	0.59522	0.37078	0	.	.	5.84	3.48	0.38946	-0.794000	0.04690	1.946000	0.29857	0.665000	0.62972	0.000000	0.06391	0.993000	0.31925	0.321000	0.24994	0.0:0.0758:0.1465:0.7778	7.365	0.25939	615	0.66512	.;.	.	.	.	.	.	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	1527.98	33	chr1	109508512	.	T	C	1527.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.953e+00;DP=984;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.84;ReadPosRankSum=1.37;SOR=0.747	GT:AD:DP:GQ:PL	0/1:67,62:129:99:1542,0,1963	20	0	1	0
chr1	109573739	109573739	G	T	exonic	GNAI3	.	nonsynonymous SNV	GNAI3:NM_006496:exon2:c.G121T:p.A41S,	Auriculocondylar syndrome 1, Autosomal dominant	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.996	D	0.992	D	0.000	D	1.000	D	1.965	M	-2.34	D	0.577	D	0.732	D	0.677	5.254	33	4.95	2.567	9.392	17.974	0.776	0.202459004402	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.15	0.32461	T	0.996	0.68779	D	0.992	0.80445	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.025	0.55430	M	-2.34	0.87989	D	-2.1	0.47852	N	0.589	0.60918	0.577	0.91590	D	0.732	0.90815	D	10	0.8665968	0.85906	D	0.202459	0.86822	D	0.776	0.92501	0.822	0.93461	0.964682072619	0.96430	0.6749589960563338	0.67433	1.48735837486	0.86818	0.856574594975	0.90603	D	0.812649	0.95334	D	0.25127	0.78720	D	0.123156	0.78444	D	0.971368908882141	0.69290	D	0.832517	0.50110	T	0.91167796	0.92452	0.8071175	0.88717	0.91167796	0.92453	0.8071175	0.88718	-8.884	0.66946	D	0.524568101234359	0.59632	0.536	0.66186	A	.	.	4.614239	0.73203	26.0	0.99750483587024696	0.84228	0.99504	0.96829	D	AEFBI	0.930639	0.91824	D	0.809714039946493	0.86710	8.97362	0.786678649761017	0.88852	9.740486	0.999999999999999	0.74766	0.736574	0.97449	0	0.743671	0.97443	0	0.709663	0.75317	0	0.677812	0.66336	0	.	.	4.95	4.95	0.64894	9.735000	0.98037	11.886000	0.98962	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	17.974	0.89044	819	0.41190	.	.	.	.	.	.	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	0.02381	1096.98	34	chr1	109573739	.	G	T	1096.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.490e-01;DP=778;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.67;ReadPosRankSum=0.820;SOR=0.791	GT:AD:DP:GQ:PL	0/1:32,38:70:99:1111,0,877	20	0	1	0
chr1	110952567	110952567	T	A	exonic	LRIF1	.	nonsynonymous SNV	LRIF1:NM_018372:exon2:c.A317T:p.Y106F,	.	.	.	.	.	.	.	.	.	.	.	2365618	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.66	T	0.543	P	0.266	B	0.016	N	1.000	D	0.895	L	1.82	T	-1.044	T	0.016	T	0.397	1.627	11.40	4.49	0.932	0.838	5.506	0.067	0.00340824112963	.	.	4.952e-05	0	0	0	0	0	0	0.0004	3.88e-05	6	154602	rs775748979	2.258e-05	2.257e-05	6.807e-06	3.851e-05	0.0004	1.61e-05	1.417e-05	0.0003	0.0002	0	0	0	0	0	0	0	1.656e-05	0.0004	6.571e-06	6.567e-06	0	1.345e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.627	0.05198	T	0.677	0.06166	T	0.543	0.37944	P	0.266	0.39732	B	0.016202	0.28038	N	0.289012	1	0.81001	D	2.28	0.64929	M	1.82	0.25018	T	-0.79	0.21860	N	0.33	0.37093	-1.0443	0.16030	T	0.016	0.06711	T	10	0.06645328	0.09116	T	0.003408	0.07664	T	0.067	0.19503	0.34	0.33141	0.307016933798	0.30308	0.1327858640221066	0.13202	0.0626037434861	0.06969	0.383583635092	0.22763	T	0.032232	0.22396	T	-0.376351	0.03285	T	-0.450418	0.27651	T	0.0978820852729629	0.12123	T	0.79872	0.44372	T	0.069882154	0.15346	0.038676057	0.03789	0.069882154	0.15346	0.038676057	0.03789	-2.506	0.05822	T	0.4340435174919164	0.52070	0.131	0.28203	B	.	.	2.036013	0.25880	16.92	0.95880815307040079	0.28073	0.66347	0.33047	D	AEGBI	0.115371	0.22687	N	-0.174736634822617	0.34188	1.948455	-0.0455299860726985	0.37685	2.209816	0.997210722311324	0.35382	0.615465	0.37627	0	0.653731	0.59785	0	0.658983	0.55881	0	0.655142	0.61905	0	.	.	5.65	4.49	0.54177	0.780000	0.26421	1.225000	0.25003	-0.178000	0.10482	0.967000	0.34061	1.000000	0.68203	0.997000	0.79791	0.1519:0.0828:0.0:0.7653	5.506	0.16144	629	0.65079	.	.	.	.	.	.	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	1909.98	34	chr1	110952567	.	T	A	1909.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.257;DP=854;ExcessHet=0.0000;FS=0.659;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.84;ReadPosRankSum=-9.860e-01;SOR=0.803	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:85,53:138:99:0|1:110952567_T_A:1924,0,3370:110952567	20	0	1	0
chr1	110952568	110952568	A	C	exonic	LRIF1	.	nonsynonymous SNV	LRIF1:NM_018372:exon2:c.T316G:p.Y106D,	.	.	.	.	.	.	.	.	.	.	.	2365616	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.03	D	0.997	D	0.943	D	0.016	N	1.000	D	0.895	L	1.73	T	-1.083	T	0.066	T	0.907	2.953	15.84	5.65	2.159	3.192	13.821	0.317	0.01766909683	.	.	4.951e-05	0	0	0	0	0	0	0.0004	3.88e-05	6	154602	rs763115833	2.258e-05	2.257e-05	6.807e-06	3.851e-05	0.0004	1.61e-05	1.417e-05	0.0003	0.0002	0	0	0	0	0	0	0	1.656e-05	0.0004	6.568e-06	6.566e-06	0	1.344e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.016	0.51853	D	0.074	0.42976	T	0.997	0.70673	D	0.943	0.67921	D	0.016202	0.28038	N	0.289012	0.971217	0.81001	D	2.28	0.64929	M	1.73	0.26445	T	-3.86	0.72471	D	0.708	0.71143	-1.0826	0.06852	T	0.066	0.27330	T	10	0.5954114	0.66613	D	0.017669	0.39460	T	0.317	0.63904	0.315	0.29096	0.592571446383	0.58934	0.5351355550400292	0.53438	0.130950047819	0.14771	0.430274397135	0.29245	T	0.188396	0.54230	T	-0.0363441	0.46489	T	0.0379782	0.72796	D	0.303814768791199	0.25161	T	0.630437	0.24556	T	0.37928367	0.59264	0.52274305	0.72427	0.37928367	0.59265	0.52274305	0.72427	-3.876	0.21943	T	0.7124813616847175	0.79288	0.316	0.54243	B	.	.	4.628576	0.73573	26.0	0.99292779004767329	0.58326	0.94044	0.59944	D	AEGBI	0.508271	0.53822	D	0.487321886169435	0.66349	4.939	0.522357542611864	0.69496	5.368867	0.999999666594243	0.74766	0.615465	0.37627	0	0.653731	0.59785	0	0.658983	0.55881	0	0.655142	0.61905	0	.	.	5.65	5.65	0.86881	3.045000	0.49528	11.313000	0.92475	0.691000	0.84096	0.979000	0.35152	1.000000	0.68203	0.998000	0.85391	1.0:0.0:0.0:0.0	13.821	0.62813	629	0.65079	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1909.98	34	chr1	110952568	.	A	C	1909.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.816e+00;DP=856;ExcessHet=0.0000;FS=0.659;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.84;ReadPosRankSum=-8.780e-01;SOR=0.803	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:85,53:138:99:0|1:110952567_T_A:1924,0,3370:110952567	20	0	1	0
chr1	112694590	112694590	C	T	exonic	MOV10	.	nonsynonymous SNV	MOV10:NM_001369507:exon8:c.C1433T:p.P478L	.	.	424	1097	1	0	0	1	0.000455581	.	.	3359008	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.7	T	0.0	B	0.002	B	0.173	N	1.000	N	0.55	N	-2.97	D	-0.806	T	0.322	T	0.079	0.506	6.746	4.18	1.150	3.049	10.528	0.218	0.0496357856903	7.7e-05	.	0.0002	0	8.74e-05	0	0	0.0002	0.0023	0.0003	0.0001488	23	154602	rs200051144	0.0002	0.0002	0.0002	0.0002	0.0005	0.0001	0.0001	0.0002	0.0001	2.99e-05	0.0002	0	0	0	0.0005	0.0002	0.0002	0.0002	0.0002	0.0002	0.0002	0.0002	0.0004	0.0002	0.0001	0.0003	0.0002	2.405e-05	0	0.0003	0	0	0	0	0.0004	0	0.0002	0.136	0.26085	T	0.166	0.30828	T	0.0	0.02946	B	0.001	0.04355	B	0.173459	0.17307	N	0.607210	1	0.08975	N	1.79	0.46772	L	-2.97	0.92108	D	-0.9	0.24244	N	0.06	0.03283	-0.8062	0.54778	T	0.322	0.69099	T	10	0.052493483	0.05293	T	0.049636	0.63897	D	0.218	0.51265	.	.	0.465138348474	0.46142	0.5418451886195179	0.54109	0.648252932563	0.58176	0.353148460388	0.18384	T	0.273883	0.64635	T	-0.29301	0.09336	T	-0.342509	0.40062	T	0.0158592742975957	0.00372	T	0.685131	0.30359	T	0.03444967	0.03867	0.029570375	0.01309	0.03444967	0.03867	0.029570375	0.01309	-5.454	0.41436	T	.	.	0.111	0.25133	B	.;.;.;.	.;.;.;.	2.024808	0.25732	16.87	0.76941267509963263	0.11671	0.34900	0.25176	N	AEFBI	0.196268	0.32325	N	-0.938399308271213	0.09955	0.4734748	-0.853345119118518	0.13207	0.6838848	0.968897837038356	0.29086	0.732398	0.92422	0	0.702456	0.74545	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.09	4.18	0.48473	1.339000	0.33489	4.897000	0.45822	-0.182000	0.10109	0.001000	0.13787	0.599000	0.25709	0.012000	0.09680	0.0:0.8415:0.0:0.1585	10.528	0.44151	909	0.22467	.;.;.;.	.	.	.	.	.	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	1068.98	34	chr1	112694590	.	C	T	1068.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.20;DP=875;ExcessHet=0.0000;FS=1.728;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.37;ReadPosRankSum=0.015;SOR=0.498	GT:AD:DP:GQ:PL	0/1:55,39:94:99:1083,0,1590	20	0	1	0
chr1	112913901	112913901	C	G	exonic	SLC16A1	.	nonsynonymous SNV	SLC16A1:NM_001166496:exon5:c.G1493C:p.S498T	Erythrocyte lactate transporter defect, Autosomal dominant;Hyperinsulinemic hypoglycemia, familial, 7, Autosomal dominant;Monocarboxylate transporter 1 deficiency, Autosomal recessive, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6	T	0.019	B	0.006	B	0.000	N	1.000	D	0.55	N	1.89	T	-0.961	T	0.016	T	0.249	0.420	6.281	2.7	0.841	0.795	6.367	0.050	0.00694427549183	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.514e-05	0.0014	1.781e-05	1.244e-05	1.721e-05	9.91e-06	8.47e-06	1.101e-05	8.87e-06	0	0	0	0	0	0	1.721e-05	3.328e-05	1.162e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.406	0.10278	T	0.345	0.17750	T	0.019	0.17989	B	0.006	0.12133	B	0.000194	0.00507	N	3.613670	0.514651	0.31619	N	0.55	0.14455	N	1.89	0.23688	T	0.05	0.06369	N	0.31	0.34981	-0.9605	0.39087	T	0.016	0.06377	T	10	0.06500685	0.08706	T	0.006944	0.18374	T	0.050	0.13987	0.136	0.04008	0.206203607746	0.20212	0.25754088764728017	0.25668	0.358157990037	0.37530	0.395360171795	0.24422	T	0.083635	0.37098	T	-0.185342	0.22944	T	-0.504008	0.21933	T	0.148207157850266	0.16960	T	.	.	.	0.09177888	0.21514	0.055201277	0.09640	0.09177888	0.21514	0.055201277	0.09639	-2.577	0.06330	T	.	.	0.073	0.04558	B	.;.	.;.	1.617359	0.20662	14.85	0.80462772014093309	0.13214	0.95587	0.65318	D	AEFBI	0.400058	0.47510	N	-0.522399086346691	0.21356	1.132814	-0.357056128764837	0.26292	1.451256	0.85627841051563	0.25139	0.722319	0.85440	0	0.724815	0.89359	0	0.698795	0.65105	0	0.714379	0.83352	0	.	.	5.94	2.7	0.31007	1.588000	0.36242	0.013000	0.13471	0.599000	0.40250	1.000000	0.71638	0.000000	0.08366	0.972000	0.54974	0.1496:0.6559:0.0:0.1945	6.367	0.20666	822	0.40702	.;.	.	.	.	.	.	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	1360.52	107	chr1	112913901	.	C	G,T	1360.52	.	AC=8,1;AF=0.190,0.024;AN=42;BaseQRankSum=-3.601e+00;DP=1739;ExcessHet=4.7172;FS=69.726;InbreedingCoeff=-0.2738;MLEAC=8,1;MLEAF=0.190,0.024;MQ=60.00;MQRankSum=0.00;QD=1.49;ReadPosRankSum=0.901;SOR=9.894	GT:AD:DP:GQ:PL	0/1:76,18,4:98:99:167,0,1446,322,1448,1816	12	0	8	0
chr1	112913901	112913901	C	T	exonic	SLC16A1	.	nonsynonymous SNV	SLC16A1:NM_001166496:exon5:c.G1493A:p.S498N	Erythrocyte lactate transporter defect, Autosomal dominant;Hyperinsulinemic hypoglycemia, familial, 7, Autosomal dominant;Monocarboxylate transporter 1 deficiency, Autosomal recessive, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	0.626	P	0.219	B	0.000	N	1.000	D	0.55	N	1.87	T	-1.064	T	0.021	T	0.104	1.964	12.53	2.7	0.841	0.795	6.367	0.041	0.0129096832338	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.062	0.36912	T	0.114	0.36765	T	0.626	0.40074	P	0.219	0.37734	B	0.000194	0.00507	N	3.613670	0.542923	0.32069	D	0.55	0.14455	N	1.87	0.24085	T	-0.51	0.15986	N	0.234	0.26354	-1.0643	0.10713	T	0.021	0.08686	T	10	0.10610628	0.19646	T	0.01291	0.31889	T	0.041	0.10877	0.121	0.02793	0.200294437569	0.19612	0.24899618109934885	0.24813	0.315069041011	0.33789	0.411491125822	0.26663	T	0.106424	0.41776	T	-0.242444	0.15039	T	-0.58603	0.14011	T	0.547992467880249	0.34402	D	.	.	.	0.096315265	0.22684	0.08850896	0.20641	0.096315265	0.22683	0.08850896	0.20641	-4.187	0.26563	T	.	.	0.102	0.18206	B	.;.	.;.	1.870468	0.23763	16.14	0.98071642327873421	0.38030	0.50322	0.28636	D	AEFBI	0.126630	0.24365	N	-0.162150398385312	0.34719	1.985187	-0.0858474992985718	0.35975	2.087787	0.85627841051563	0.25139	0.722319	0.85440	0	0.724815	0.89359	0	0.698795	0.65105	0	0.714379	0.83352	0	.	.	5.94	2.7	0.31007	1.588000	0.36242	0.013000	0.13471	0.599000	0.40250	1.000000	0.71638	0.000000	0.08366	0.972000	0.54974	0.1496:0.6559:0.0:0.1945	6.367	0.20666	822	0.40702	.;.	.	.	.	.	.	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	1360.52	107	chr1	112913901	.	C	G,T	1360.52	.	AC=8,1;AF=0.190,0.024;AN=42;BaseQRankSum=-3.601e+00;DP=1739;ExcessHet=4.7172;FS=69.726;InbreedingCoeff=-0.2738;MLEAC=8,1;MLEAF=0.190,0.024;MQ=60.00;MQRankSum=0.00;QD=1.49;ReadPosRankSum=0.901;SOR=9.894	GT:AD:DP:GQ:PL	0/1:76,18,4:98:99:167,0,1446,322,1448,1816	12	0	8	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	0/1:129,30:164:99:103,0,2397	0	0	21	0
chr1	117025736	117025736	C	T	exonic	CD101	.	nonsynonymous SNV	CD101:NM_001256106:exon8:c.C2656T:p.R886C	.	.	418	1096	7	1	0	9	0.00408905	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.999	D	0.000	D	0.999	D	2.36	M	1.95	T	-0.998	T	0.092	T	0.839	2.375	13.90	4.35	1.403	1.678	10.861	0.311	0.0429783644867	0.0007	0.00119808	0.0012	9.612e-05	0.0005	0	0.0041	0.0010	0.0033	0.0025	0.0011837	183	154602	rs145563609	0.0011	0.0011	0.0009	0.0012	0.0043	0.0010	0.0010	0.0031	0.0030	0.0006	0.0004	0	0	0.0050	0.0043	0.0007	0.0012	0.0034	0.0012	0.0012	0.0008	0.0016	0.0037	0.0010	0.0010	0.0024	0.0020	7.224e-05	0	0.0005	0	0.0002	0.0063	0	0.0011	0.0024	0.0037	0.002	0.72154	D	0.002	0.79402	D	1.0	0.90584	D	0.999	0.92359	D	0.000029	0.55875	D	0.000000	0.998832	0.45528	D	2.685	0.78553	M	1.95	0.22474	T	-6.19	0.90332	D	0.718	0.72031	-0.9983	0.30395	T	0.092	0.35146	T	10	0.031836003	0.01324	T	0.042978	0.60744	D	0.311	0.63269	.	.	0.41883969893	0.41498	0.5030693294742855	0.50228	0.573622992884	0.53407	0.414083778858	0.27022	T	0.432415	0.78019	T	-0.205345	0.20038	T	-0.072355	0.65459	T	0.075597228158838	0.09414	T	0.882612	0.60317	D	0.47500956	0.65597	0.2970573	0.55738	0.47500956	0.65597	0.2970573	0.55738	-9.079	0.68203	D	.	.	0.236	0.46994	B	.;.	.;.	4.249877	0.64501	24.7	0.99891572324364386	0.96513	0.81631	0.40996	D	AEFBI	0.140877	0.26289	N	0.402770763960826	0.61575	4.360442	0.283614773579469	0.54582	3.623	0.994313093158964	0.33582	0.553676	0.25195	0	0.588015	0.36545	0	0.618467	0.43123	0	0.550183	0.17644	0	.	.	5.28	4.35	0.51454	0.870000	0.27662	5.741000	0.49573	0.599000	0.40250	0.968000	0.34134	1.000000	0.68203	0.105000	0.18517	0.1879:0.8121:0.0:0.0	10.861	0.46032	906	0.23090	Immunoglobulin V-set domain|Immunoglobulin-like domain|Immunoglobulin V-set domain|Immunoglobulin subtype;Immunoglobulin V-set domain|Immunoglobulin-like domain|Immunoglobulin V-set 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	1342.98	34	chr1	117025736	.	C	T	1342.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.959;DP=831;ExcessHet=0.0000;FS=2.148;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.26;ReadPosRankSum=-9.480e-01;SOR=0.730	GT:AD:DP:GQ:PL	0/1:90,55:145:99:1357,0,2429	20	0	1	0
chr1	120809819	120809819	G	A	exonic	NBPF26	.	nonsynonymous SNV	NBPF26:NM_001351372:exon4:c.G502A:p.E168K,	.	.	438	1073	11	0	0	11	0.00509968	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1335706926	0.0029	0.0032	0.0017	0.0041	0.0431	0.0028	0.0028	0.0420	0.0415	0.0005	0.0002	0.0001	0.0014	1.97e-05	0.0009	0.0002	0.0027	0.0431	0.0016	0.0015	0.0008	0.0024	0.0413	0.0014	0.0013	0.0364	0.0345	0.0002	0	7.404e-05	0	0.0022	0	0	6.383e-05	0.0005	0.0413	.	.	.	0.095	0.41239	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.141	0.21839	.	.	.	.	.	.	.	0.0061796606	0.00139	T	.	.	.	.	.	.	.	.	.	0.03486794252730376	0.03433	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.680532	0.28920	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.117	0.23570	B	.;.;.;.;.	.;.;.;.;.	1.558948	0.19974	14.53	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.356000	0.19918	-3.305000	0.02891	-0.588000	0.04664	0.016000	0.19238	0.000000	0.08366	0.001000	0.02609	.	.	.	964	0.07719	Neuroblastoma breakpoint family (NBPF) domain;Neuroblastoma breakpoint family (NBPF) domain;Neuroblastoma breakpoint family (NBPF) domain;Neuroblastoma breakpoint family (NBPF) domain;Neuroblastoma breakpoint family (NBPF) domain	.	.	.	.	.	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	2279.98	38	chr1	120809819	.	G	A	2279.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-9.820e-01;DP=1275;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=42.77;MQRankSum=2.20;QD=7.19;ReadPosRankSum=-1.888e+00;SOR=0.706	GT:AD:DP:GQ:PL	0/1:210,107:317:99:2294,0,5256	20	0	1	0
chr1	120833757	120833757	T	A	exonic	NBPF26	.	nonsynonymous SNV	NBPF26:NM_001351372:exon24:c.T3190A:p.L1064M,	.	.	475	1046	1	0	0	1	0.000477783	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.91e-05	9.03e-05	4.124e-05	7.462e-05	0.0006	4.359e-05	3.805e-05	0.0004	0.0004	0	0	0	0	0	0	0	3.228e-05	0.0006	0	4.432e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	0.193	0.28210	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.21	0.23380	.	.	.	.	.	.	.	0.0764111	0.11935	T	3.53E-4	0.00044	T	.	.	.	.	0.0297737177859	0.01360	0.005507849172910293	0.00520	.	.	.	.	.	.	.	.	-0.500705	0.00567	T	-0.957004	0.00241	T	0.050304150758773	0.05553	T	0.50365	0.15850	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.147	0.34711	B	.;.	.;.	1.907931	0.24231	16.32	0.88832254207567929	0.18291	0.00829	0.03338	N	AEFI	0.040239	0.05956	N	-0.787700677656018	0.13629	0.6728384	-1.02362607472465	0.09266	0.4600467	0.00177445814920537	0.08872	0.693126	0.56070	0	0.659464	0.62310	0	0.602189	0.34648	0	0.655142	0.61905	0	.	.	.	.	.	0.909000	0.28180	-7.994000	0.01047	0.171000	0.17763	0.010000	0.18352	0.000000	0.08366	0.003000	0.05239	.	.	.	964	0.07719	Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain;Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain	.	.	.	.	.	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	247.98	39	chr1	120833757	.	T	A	247.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.520e+00;DP=997;ExcessHet=0.0000;FS=0.810;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=37.04;MQRankSum=2.53;QD=1.95;ReadPosRankSum=-4.060e-01;SOR=0.601	GT:AD:DP:GQ:PL	0/1:101,26:127:99:262,0,2343	20	0	1	0
chr1	143905910	143905910	C	G	exonic	H3-2	.	nonsynonymous SNV	H3-2:NM_001355409:exon1:c.G57C:p.K19N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	.	.	.	.	0.000	U	0.999	D	.	.	.	.	-0.659	T	0.201	T	.	2.232	13.42	2.3	1.605	3.281	10.731	0.144	0.0107711016021	.	.	4.612e-05	0	0	0	0	8.544e-05	0	0	.	.	.	rs781949718	1.886e-05	1.937e-05	1.944e-05	1.826e-05	0.0006	1.291e-05	1.107e-05	0.0002	8.121e-05	6.016e-05	2.26e-05	0	0	0	0.0006	1.653e-05	5.064e-05	0	1.348e-05	2.664e-05	0	2.764e-05	2.441e-05	2.24e-06	8.4e-07	.	.	2.441e-05	0	0	0	0	0	0	1.514e-05	0	0	.	.	.	0.016	0.60972	D	.	.	.	.	.	.	0.000012	0.62929	U	0.000000	0.999	0.46326	D	.	.	.	.	.	.	.	.	.	0.559	0.58373	-0.6588	0.62329	T	0.201	0.55751	T	6	0.32355377	0.49691	T	0.010771	0.27684	T	0.144	0.38394	0.427	0.47350	0.166414681773	0.16258	0.1683042125071124	0.16750	2.67817289073	0.98522	.	.	.	.	.	.	0.0879706	0.62959	D	-0.00135432	0.70249	D	0.989185869693756	0.79436	D	0.950005	0.80823	D	.	.	.	.	.	.	.	.	-9.331	0.69802	D	.	.	0.801	0.77334	P	.	.	4.587642	0.72538	25.8	0.98722878208744513	0.45230	0.80785	0.40335	D	AEFDBHCI	0.472234	0.51744	N	0.0306217395000876	0.43252	2.621781	-0.0226135048565778	0.38695	2.284	0.999999796235114	0.74766	0.07523	0.01759	0	0.109994	0.03358	0	0.059349	0.00372	0	0.088244	0.02422	0	.	.	2.3	2.3	0.27735	4.348000	0.59158	0.541000	0.19334	0.407000	0.20612	1.000000	0.71638	0.998000	0.33993	0.081000	0.17303	0.0:1.0:0.0:0.0	10.731	0.45296	970	0.06235	Histone H2A/H2B/H3	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	2180.08	33	chr1	143905910	.	C	G	2180.08	.	AC=2;AF=0.048;AN=42;DP=777;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=43.33;QD=32.54;SOR=0.784	GT:AD:DP:GQ:PL	1/1:0,67:67:99:2208,200,0	20	1	0	0
chr1	146067235	146067235	C	T	exonic	NBPF10	.	nonsynonymous SNV	NBPF10:NM_001039703:exon85:c.G10582A:p.E3528K	.	.	651	848	21	2	0	25	0.0145264	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.99	T	0.713	P	0.678	P	.	.	1.000	N	0.55	N	4.03	T	-1.014	T	0.003	T	0.362	-2.093	0.006	.	-2.037	-2.442	.	0.051	.	.	.	0.3095	0.25	0	0	.	0.3557	0.5	0.25	0.0018826	49	26028	rs782346895	0.0009	0.0030	0.0007	0.0010	0.0046	0.0008	0.0008	0.0040	0.0037	0.0016	0.0017	0.0002	0.0046	0.0005	0.0010	0.0004	0.0011	0.0008	0.0005	0.0017	0.0005	0.0005	0.0016	0.0004	0.0004	0.0007	0.0006	0.0010	0	0.0006	0	0.0016	0.0002	0	0.0001	0.0007	0.0011	.	.	.	0.051	0.47828	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.164	0.25867	.	.	.	.	.	.	.	0.028234512	0.00958	T	.	.	.	.	.	.	.	.	.	0.008707865764252615	0.00834	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.676832	0.35895	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.291	0.52285	B	.;.	.;.	-0.114190	0.03558	0.685	.	.	.	.	.	.	0.017718	0.00484	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.877000	0.04305	0.000000	0.13247	.	.	0.001000	0.13787	0.033000	0.21346	.	.	.	.	.	958	0.09170	Neuroblastoma breakpoint family (NBPF) domain;Neuroblastoma breakpoint family (NBPF) domain	.	.	.	.	.	Benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0.09524	552.03	20	chr1	146067235	.	C	T	552.03	.	AC=4;AF=0.095;AN=42;BaseQRankSum=-1.114e+00;DP=529;ExcessHet=0.6776;FS=6.040;InbreedingCoeff=-0.1073;MLEAC=4;MLEAF=0.095;MQ=43.46;MQRankSum=-3.188e+00;QD=3.94;ReadPosRankSum=-5.070e-01;SOR=0.336	GT:AD:DP:GQ:PL	0/1:20,7:27:96:96,0,522	17	0	4	0
chr1	146986476	146986476	G	T	exonic	NBPF12	.	nonsynonymous SNV	NBPF12:NM_001278141:exon27:c.G3016T:p.V1006F,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.53	T	.	.	.	.	.	.	1.000	N	-2.255	N	3.64	T	-0.982	T	0.001	T	0.224	-2.219	0.005	-1.53	-1.523	-3.058	2.359	0.022	0.00021742527482	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	4.616e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	0.406	0.21612	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.229	0.25745	-0.9824	0.34445	T	0.001	0.00255	T	7	0.052220464	0.05222	T	3.74E-4	0.00054	T	.	.	.	.	0.0716867268079	0.06686	0.006287468746981562	0.00596	.	.	.	.	.	5.01E-4	0.00188	T	-0.224501	0.17384	T	-0.560257	0.16353	T	0.040703484225222	0.03818	T	0.682032	0.38135	T	0.047004726	0.07961	0.08019341	0.18118	0.047004726	0.07961	0.08019341	0.18118	-7.493	0.57561	T	.	.	0.181	0.39339	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	-0.074235	0.03797	0.803	0.51561709674880785	0.04585	0.00012	0.00170	N	AEFI	0.017241	0.00439	N	-1.76072499879359	0.00649	0.02797974	-1.85118346338533	0.00609	0.02705143	5.37886516762803E-6	0.01202	0.638212	0.43195	0	0.670034	0.63936	0	0.618467	0.43123	0	0.620846	0.47308	0	.	.	0.963	-1.53	0.08156	-0.920000	0.04121	-14.841000	0.00384	-1.512000	0.01014	0.000000	0.06391	0.000000	0.08366	0.005000	0.06747	0.0:0.2577:0.2965:0.4458	2.359	0.04039	768	0.49510	Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain;Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain;Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain;Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain;Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain;Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain;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	156.99	36	chr1	146986476	.	G	T	156.99	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.661e+00;DP=593;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0252;MLEAC=1;MLEAF=0.024;MQ=27.33;MQRankSum=1.91;QD=4.76;ReadPosRankSum=-2.877e+00;SOR=0.813	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:27,6:33:99:0|1:146986475_T_C:171,0,1095:146986475	20	0	1	0
chr1	146986482	146986482	T	G	exonic	NBPF12	.	nonsynonymous SNV	NBPF12:NM_001278141:exon27:c.T3022G:p.S1008A,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.29	T	.	.	.	.	.	.	1.000	N	1.93	M	3.19	T	-0.944	T	0.009	T	0.15	-0.350	2.344	-1.93	-0.691	-1.590	1.378	0.001	0.000184292380657	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	6.594e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	0.033	0.61642	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.119	0.10911	-0.9444	0.41911	T	0.009	0.03054	T	7	0.05782208	0.06702	T	4.93E-4	0.00143	T	.	.	.	.	0.0551355673512	0.04727	0.004069409539079896	0.00381	.	.	.	.	.	0.011983	0.10611	T	-0.244858	0.14736	T	-0.589498	0.13709	T	0.0716761663107822	0.08884	T	0.416058	0.16021	T	0.035674196	0.04245	0.041807774	0.04836	0.035674196	0.04245	0.041807774	0.04836	-10.653	0.77721	D	.	.	0.137	0.39288	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	0.042037	0.04581	1.258	0.75278008687621789	0.11013	0.00071	0.00499	N	AEFI	0.023419	0.01303	N	-0.881901220152309	0.11273	0.5431575	-1.15555897514068	0.06668	0.3217483	2.60250277347139E-6	0.01202	0.638212	0.43195	0	0.670034	0.63936	0	0.618467	0.43123	0	0.620846	0.47308	0	.	.	0.963	-1.93	0.07180	-0.993000	0.03831	-15.654000	0.00347	0.186000	0.17826	0.000000	0.06391	0.000000	0.08366	0.036000	0.13842	0.3386:0.291:0.0:0.3704	1.378	0.02091	768	0.49510	Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain;Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain;Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain;Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain;Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain;Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain;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	189.98	36	chr1	146986482	.	T	G	189.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.202e+00;DP=620;ExcessHet=0.0000;FS=2.444;InbreedingCoeff=-0.0248;MLEAC=1;MLEAF=0.024;MQ=28.65;MQRankSum=2.07;QD=5.13;ReadPosRankSum=-1.511e+00;SOR=1.162	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:30,7:37:99:0|1:146986475_T_C:204,0,1239:146986475	20	0	1	0
chr1	146986483	146986483	C	T	exonic	NBPF12	.	nonsynonymous SNV	NBPF12:NM_001278141:exon27:c.C3023T:p.S1008L,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	.	.	.	.	.	.	1.000	N	2.075	M	3.02	T	-0.967	T	0.014	T	0.313	1.634	11.42	0.183	0.664	-0.051	3.066	0.029	0.000223470506938	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	4.685e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	8.576e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	0.011	0.79402	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.2	0.22098	-0.9602	0.39143	T	0.013	0.04843	T	7	0.080670536	0.13121	T	5.75E-4	0.00233	T	.	.	.	.	0.126345400529	0.12197	0.009749796002780978	0.00936	.	.	.	.	.	0.096667	0.39870	T	-0.207671	0.19710	T	-0.536082	0.18684	T	0.317191511392593	0.25708	T	0.838016	0.90093	T	0.044107545	0.06994	0.05235305	0.08607	0.044107545	0.06993	0.05235305	0.08606	-10.291	0.75636	D	.	.	0.231	0.49177	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	0.224109	0.06063	2.504	0.91984020469727146	0.21316	0.00083	0.00561	N	AEFI	0.027567	0.02277	N	-0.641063540496327	0.17721	0.9142649	-0.898040125238809	0.12141	0.622768	1.10250784506222E-6	0.01202	0.638212	0.43195	0	0.670034	0.63936	0	0.618467	0.43123	0	0.620846	0.47308	0	.	.	0.963	-0.236	0.12422	-0.243000	0.08933	-9.229000	0.00849	0.171000	0.17763	0.000000	0.06391	0.000000	0.08366	0.038000	0.14061	0.0:0.6352:0.0:0.3648	2.958	0.05525	768	0.49510	Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain;Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain;Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain;Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain;Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain;Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain;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	186.98	36	chr1	146986483	.	C	T	186.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.671e+00;DP=629;ExcessHet=0.0000;FS=2.509;InbreedingCoeff=-0.0248;MLEAC=1;MLEAF=0.024;MQ=28.56;MQRankSum=2.11;QD=4.92;ReadPosRankSum=-1.338e+00;SOR=1.426	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:31,7:38:99:0|1:146986475_T_C:201,0,1281:146986475	20	0	1	0
chr1	146986491	146986491	G	C	exonic	NBPF12	.	nonsynonymous SNV	NBPF12:NM_001278141:exon27:c.G3031C:p.E1011Q,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	D	.	.	.	.	.	.	1.000	N	1.485	L	2.6	T	-0.968	T	0.014	T	0.187	1.028	9.198	0.147	-0.147	-0.215	3.736	0.003	0.000220004363759	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.178e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	9.232e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	0.099	0.61642	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.109	0.09490	-0.9737	0.36409	T	0.015	0.05801	T	7	0.06326583	0.08217	T	4.88E-4	0.00143	T	.	.	.	.	0.0716867268079	0.06686	0.013759645817807066	0.01333	.	.	.	.	.	0.012582	0.11036	T	-0.251447	0.13921	T	-0.598962	0.12899	T	0.0236750441152923	0.01104	T	0.743726	0.43132	T	0.042465843	0.06444	0.047043722	0.06690	0.042465843	0.06443	0.047043722	0.06690	-9.676	0.71950	D	.	.	0.275	0.51121	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	0.032301	0.04511	1.212	0.79556264730452553	0.12795	0.00079	0.00540	N	AEFI	0.028218	0.02446	N	-0.967352578107312	0.09307	0.4399451	-1.20638510972618	0.05807	0.2777158	1.44838041058684E-6	0.01202	0.638212	0.43195	0	0.670034	0.63936	0	0.618467	0.43123	0	0.620846	0.47308	0	.	.	0.963	-0.393	0.11819	-0.108000	0.10827	-6.489000	0.01384	0.189000	0.17846	0.000000	0.06391	0.000000	0.08366	0.028000	0.12845	0.4392:0.0:0.5608:0.0	4.316	0.10435	768	0.49510	Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain;Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain;Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain;Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain;Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain;Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain;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	180.98	36	chr1	146986491	.	G	C	180.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.84;DP=660;ExcessHet=0.0000;FS=2.463;InbreedingCoeff=-0.0248;MLEAC=1;MLEAF=0.024;MQ=29.72;MQRankSum=1.54;QD=4.52;ReadPosRankSum=-1.187e+00;SOR=1.609	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:33,7:40:99:0|1:146986475_T_C:195,0,1365:146986475	20	0	1	0
chr1	146986497	146986499	TAC	-	exonic	NBPF12	.	nonframeshift deletion	NBPF12:NM_001278141:exon27:c.3037_3039del:p.Y1013del,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.18e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.0001	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	174.94	36	chr1	146986496	.	GTAC	G	174.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.950;DP=682;ExcessHet=0.0000;FS=5.033;InbreedingCoeff=-0.0246;MLEAC=1;MLEAF=0.024;MQ=31.16;MQRankSum=1.11;QD=4.17;ReadPosRankSum=-9.040e-01;SOR=2.280	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:35,7:42:99:0|1:146986475_T_C:189,0,1428:146986475	20	0	1	0
chr1	146986500	146986500	-	GTG	exonic	NBPF12	.	nonframeshift insertion	NBPF12:NM_001278141:exon27:c.3040_3041insGTG:p.L1014delinsRV,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.194e-06	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	174.94	36	chr1	146986500	.	C	CGTG	174.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.24;DP=695;ExcessHet=0.0000;FS=5.033;InbreedingCoeff=-0.0246;MLEAC=1;MLEAF=0.024;MQ=31.53;MQRankSum=1.11;QD=4.17;ReadPosRankSum=-3.380e-01;SOR=2.280	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:35,7:42:99:0|1:146986475_T_C:189,0,1428:146986475	20	0	1	0
chr1	146986512	146986512	C	G	exonic	NBPF12	.	nonsynonymous SNV	NBPF12:NM_001278141:exon27:c.C3052G:p.L1018V,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06	T	.	.	.	.	.	.	1.000	N	1.955	M	2.6	T	-0.981	T	0.019	T	0.126	0.823	8.314	-0.25	0.664	-0.632	3.818	0.037	0.000473058548335	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1189236476	4.786e-06	2.071e-05	6.94e-06	2.953e-06	8.208e-06	1.27e-06	3.5e-07	2.18e-06	6.1e-07	0	0	0	0	0	0	8.208e-06	0	0	6.749e-06	0.0002	1.316e-05	0	1.495e-05	0	0	.	.	0	0	0	0	0	0	0	1.495e-05	0	0	.	.	.	0.094	0.53072	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.112	0.09914	-0.9737	0.36409	T	0.016	0.06616	T	7	0.09056851	0.15789	T	4.73E-4	0.00124	T	.	.	.	.	0.0611884634855	0.05136	0.003116935940425183	0.00290	.	.	.	.	.	0.012684	0.11106	T	-0.253059	0.13726	T	-0.601278	0.12705	T	0.0631774192411562	0.07658	T	0.681032	0.37818	T	0.025238998	0.01440	0.055768188	0.09843	0.025238998	0.01440	0.055768188	0.09843	-7.258	0.55896	T	.	.	0.122	0.27998	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	-0.496213	0.01879	0.154	0.94183795776046209	0.24406	0.00285	0.01534	N	AEFI	0.033008	0.03835	N	-0.937317887192214	0.09980	0.4747539	-1.20516352055568	0.05826	0.2787231	3.06065598520527E-6	0.01202	0.553676	0.25195	0	0.588015	0.36545	0	0.618467	0.43123	0	0.620846	0.47308	0	.	.	0.963	-1.93	0.07180	-2.021000	0.01528	-7.968000	0.01052	0.171000	0.17763	0.000000	0.06391	0.000000	0.08366	0.033000	0.13494	0.3135:0.4087:0.0:0.2778	1.744	0.02779	768	0.49510	Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain;Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain;Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain;Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain;Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain;Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain;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	362.98	36	chr1	146986512	.	C	G	362.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-7.920e-01;DP=705;ExcessHet=0.0000;FS=1.343;InbreedingCoeff=-0.0246;MLEAC=1;MLEAF=0.024;MQ=31.51;MQRankSum=1.18;QD=6.72;ReadPosRankSum=-2.180e-01;SOR=0.389	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:42,12:54:99:0|1:146986512_C_G:377,0,1712:146986512	20	0	1	0
chr1	146986518	146986518	G	A	exonic	NBPF12	.	nonsynonymous SNV	NBPF12:NM_001278141:exon27:c.G3058A:p.V1020M,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09	T	.	.	.	.	.	.	1.000	N	-1.245	N	2.74	T	-0.939	T	0.004	T	0.274	1.150	9.683	1.22	0.664	0.544	5.867	0.025	0.000702396095101	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1200281685	1.139e-05	5.421e-05	7.097e-06	1.503e-05	1.413e-05	4.74e-06	3.04e-06	5.14e-06	3.01e-06	0	0	0	0	0	0	1.413e-05	6.189e-05	0	3.362e-05	0.0003	3.933e-05	2.76e-05	5.963e-05	1.283e-05	8.14e-06	1.991e-05	1.137e-05	2.477e-05	0	0	0	0	0	0	5.963e-05	0	0	.	.	.	0.236	0.31326	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.13	0.12484	-0.9729	0.36583	T	0.015	0.05801	T	7	0.087346405	0.14936	T	7.02E-4	0.00435	T	.	.	.	.	0.110078149338	0.10416	0.01575329224809466	0.01531	.	.	.	.	.	0.015988	0.13301	T	-0.237456	0.15675	T	-0.578865	0.14646	T	0.171782339176045	0.18700	T	0.747625	0.45238	T	0.015093163	0.00122	0.046958547	0.06658	0.015093163	0.00122	0.046958547	0.06658	-9.038	0.67942	D	.	.	0.144	0.36355	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	0.429885	0.08001	4.720	0.88881077394294616	0.18331	0.01109	0.04059	N	AEFI	0.028851	0.02618	N	-0.637039824333678	0.17839	0.9214175	-0.85192841644502	0.13241	0.6858245	2.03277693168313E-6	0.01202	0.638212	0.43195	0	0.670034	0.63936	0	0.618467	0.43123	0	0.620846	0.47308	0	.	.	0.963	0.963	0.18769	0.301000	0.18929	-4.729000	0.02013	0.189000	0.17846	0.001000	0.13787	0.000000	0.08366	0.013000	0.09966	0.0:0.0:1.0:0.0	5.499	0.16108	768	0.49510	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	404.98	36	chr1	146986518	.	G	A	404.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.677e+00;DP=713;ExcessHet=0.0000;FS=2.765;InbreedingCoeff=-0.0246;MLEAC=1;MLEAF=0.024;MQ=31.40;MQRankSum=1.00;QD=7.36;ReadPosRankSum=-4.050e-01;SOR=0.355	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:42,13:55:99:0|1:146986512_C_G:419,0,1724:146986512	20	0	1	0
chr1	146986524	146986524	A	G	exonic	NBPF12	.	nonsynonymous SNV	NBPF12:NM_001278141:exon27:c.A3064G:p.R1022G,	.	.	.	.	.	.	.	.	.	0.0001	0.024	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	.	.	.	.	.	.	1.000	N	1.445	L	3.94	T	-0.946	T	0.004	T	0.177	-0.055	3.732	-1.93	-1.590	-0.588	1.659	0.039	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1224786212	1.824e-05	4.455e-05	1.812e-05	1.834e-05	0.0005	9.78e-06	7.15e-06	0.0003	0.0002	0.0005	0	0	0	0	0	5.818e-06	0	0	0.0001	0.0004	0.0001	0.0001	0.0004	7.724e-05	6.403e-05	0.0003	0.0002	0.0004	0	0	0	0	0	0	0	0	0	.	.	.	0.006	0.74150	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.117	0.10626	-0.9463	0.41599	T	0.004	0.01330	T	7	0.06937155	0.09945	T	.	.	.	.	.	.	.	0.117506650769	0.11410	0.008225204777348125	0.00787	.	.	.	.	.	0.067602	0.33244	T	-0.225417	0.17261	T	-0.561572	0.16230	T	0.0275253617298482	0.01619	T	0.728227	0.38135	T	0.0839485	0.19409	0.100187585	0.23946	0.0839485	0.19409	0.100187585	0.23945	-9.247	0.69273	D	.	.	0.196	0.41828	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	0.469054	0.08386	5.140	0.74022377082879431	0.10541	0.00030	0.00276	N	AEFI	0.024193	0.01458	N	-0.958420855417982	0.09504	0.4501306	-1.28349769219101	0.04653	0.2199849	7.04702272736815E-6	0.01202	0.553676	0.25195	0	0.588015	0.36545	0	0.618467	0.43123	0	0.620846	0.47308	0	.	.	0.963	-1.93	0.07180	-0.432000	0.07026	-11.618000	0.00589	0.208000	0.17961	0.001000	0.13787	0.000000	0.08366	0.019000	0.11356	0.454:0.0:0.2552:0.2908	1.659	0.02619	768	0.49510	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	395.98	36	chr1	146986524	.	A	G	395.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.251e+00;DP=724;ExcessHet=0.0000;FS=1.218;InbreedingCoeff=-0.0246;MLEAC=1;MLEAF=0.024;MQ=31.51;MQRankSum=0.954;QD=6.83;ReadPosRankSum=0.756;SOR=0.471	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:45,13:58:99:0|1:146986512_C_G:410,0,1830:146986512	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	0/1:207,90:297:99:1937,0,5804	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|1:119,9:128:20:0|1:149476000_C_A:20,0,4867:149476000	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|1:121,13:134:99:0|1:149476000_C_A:119,0,4904:149476000	15	0	6	0
chr1	150308149	150308149	G	A	exonic	MRPS21	.	nonsynonymous SNV	MRPS21:NM_018997:exon2:c.G185A:p.R62Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.27	T	0.702	P	0.15	B	.	.	1.000	D	.	.	0.9	T	-1.100	T	0.049	T	0.621	4.582	24.9	4.94	2.572	8.376	17.952	0.110	0.0181808918246	.	.	0.0001	0	8.642e-05	0.0014	0	0	0	0	8.41e-05	13	154602	rs782536677	2.675e-05	3.078e-05	2.863e-05	2.486e-05	0.0012	2.003e-05	1.759e-05	0.0006	0.0004	0	6.715e-05	0	0.0005	0	0.0012	9.022e-06	1.661e-05	0	4.603e-05	4.597e-05	3.857e-05	5.385e-05	0.0008	2.111e-05	1.528e-05	0.0003	0.0002	0	0	0	0	0.0008	0	0	4.41e-05	0	0	.	.	.	0.337	0.18178	T	0.702	0.41889	P	0.15	0.34161	B	.	.	.	.	0.999954	0.52396	D	.	.	.	0.9	0.45248	T	.	.	.	0.521	0.55106	-1.0998	0.04116	T	0.049	0.20789	T	8	0.06880489	0.09783	T	0.018181	0.40156	T	.	.	.	.	0.491248951702	0.48758	0.4448069608062313	0.44398	.	.	0.589424967766	0.51412	T	0.069	0.33701	T	-0.302403	0.08434	T	-0.242536	0.50551	T	0.246026089941102	0.22694	T	0.839916	0.51465	T	0.20210424	0.42244	0.2992135	0.55955	0.20210424	0.42244	0.2992135	0.55954	-6.355	0.49157	T	.	.	0.082	0.08997	B	.;.	.;.	3.830593	0.55368	23.6	0.99895810253405359	0.96895	0.98514	0.83591	D	AEFBI	0.939450	0.94008	D	0.379161901788025	0.60294	4.216808	0.475931300797393	0.66399	4.946976	0.99999994651444	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	4.94	4.94	0.64645	8.708000	0.91083	8.428000	0.77165	0.591000	0.32079	1.000000	0.71638	1.000000	0.68203	0.980000	0.58198	0.0:0.0:1.0:0.0	17.952	0.88976	92	0.96160	.;.	.	.	.	.	.	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	1244.33	41	chr1	150308149	.	G	A	1244.33	.	AC=1;AF=0.025;AN=40;BaseQRankSum=2.33;DP=835;ExcessHet=0.0000;FS=4.196;InbreedingCoeff=-0.0256;MLEAC=1;MLEAF=0.025;MQ=60.00;MQRankSum=0.00;QD=14.30;ReadPosRankSum=1.22;SOR=1.157	GT:AD:DP:GQ:PL	0/1:42,45:87:99:1258,0,1013	19	0	1	1
chr1	151177011	151177011	A	G	exonic	VPS72	.	nonsynonymous SNV	VPS72:NM_001271087:exon6:c.T761C:p.V254A	.	.	414	1077	31	0	0	31	0.0141876	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.76	T	0.0	B	0.0	B	0.010	N	1.000	N	-0.69	N	.	.	-0.951	T	0.010	T	0.034	-0.531	1.585	4.42	1.536	0.962	6.894	0.078	.	0.009	0.00678914	0.0057	0.0169	0.0025	0	0.0008	0.0054	0.0039	0.0087	0.0054721	846	154602	rs78427992	0.0060	0.0059	0.0060	0.0059	0.0191	0.0058	0.0058	0.0178	0.0174	0.0191	0.0034	0.0040	2.542e-05	0.0007	0.0138	0.0059	0.0066	0.0081	0.0079	0.0080	0.0082	0.0077	0.0161	0.0076	0.0074	0.0151	0.0147	0.0161	0	0.0056	0.0052	0	0.0004	0.0136	0.0053	0.0095	0.0102	0.793	0.03175	T	0.752	0.04772	T	0.0	0.02946	B	0.0	0.01387	B	0.009899	0.30155	N	0.360258	1	0.08975	N	-1.32	0.00691	N	.	.	.	0.49	0.03824	N	0.025	0.02964	-0.9514	0.40730	T	0.010	0.03673	T	9	0.0037549734	0.00070	T	.	.	.	0.078	0.22779	.	.	0.0401082797425	0.02173	.	.	0.587943224786	0.54355	0.419013440609	0.27701	T	0.04423	0.26752	T	-0.656704	0.00066	T	-0.701807	0.05727	T	0.000186556837697736	0.00001	T	0.174683	0.01682	T	0.017079594	0.00244	0.024969399	0.00528	0.017079594	0.00244	0.024969399	0.00528	-2.255	0.09559	T	.	.	0.059	0.01934	B	.;.	.;.	0.374732	0.07468	4.107	0.46410719542778284	0.03715	0.00333	0.01736	N	AEFDGBI	0.030784	0.03164	N	-1.16472721364999	0.05541	0.2529068	-1.04608233724713	0.08789	0.4338623	0.999872400141814	0.44625	0.719381	0.83141	0	0.724815	0.89359	0	0.723133	0.82415	0	0.714379	0.83352	0	.	.	5.41	4.42	0.52775	2.076000	0.41172	2.588000	0.33452	-0.753000	0.03565	0.357000	0.25817	0.353000	0.24482	0.009000	0.08673	0.2056:0.0:0.7944:0.0	6.894	0.23428	112	0.95438	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	1358.98	36	chr1	151177011	.	A	G	1358.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.091e+00;DP=807;ExcessHet=0.0000;FS=1.579;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.35;ReadPosRankSum=-6.670e-01;SOR=0.919	GT:AD:DP:GQ:PL	0/1:54,56:110:99:1373,0,1497	20	0	1	0
chr1	151802094	151802094	G	A	exonic	LINGO4	.	nonsynonymous SNV	LINGO4:NM_001004432:exon2:c.C611T:p.P204L,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.32	T	0.987	D	0.65	P	0.000	D	1.000	D	1.92	M	0.2	T	-0.890	T	0.182	T	0.446	2.025	12.73	5.13	2.681	1.723	16.123	0.173	0.0224046673222	.	.	2.528e-05	0.0001	0	0	0	1.537e-05	0	6.066e-05	1.94e-05	3	154602	rs553637652	2.942e-05	2.941e-05	3.131e-05	2.75e-05	8.961e-05	2.217e-05	1.97e-05	2.374e-05	1.503e-05	8.961e-05	4.472e-05	0	2.519e-05	0.0001	0	2.518e-05	1.656e-05	2.319e-05	3.285e-05	3.283e-05	2.569e-05	4.035e-05	7.24e-05	1.261e-05	7.98e-06	1.92e-05	1.032e-05	7.24e-05	0	0	0	0	0	0	2.94e-05	0	0	0.14	0.25664	T	0.466	0.12386	T	0.987	0.61912	D	0.65	0.52463	P	0.000200	0.48115	D	0.000000	0.99999	0.58761	D	2.045	0.56016	M	0.2	0.60111	T	-2.06	0.47175	N	0.312	0.35194	-0.8901	0.48925	T	0.182	0.53011	T	10	0.4020497	0.55635	T	0.022405	0.45296	T	0.173	0.43840	.	.	0.748002741978	0.74573	0.5524737143314027	0.55173	0.510397358846	0.49155	0.589992880821	0.51493	T	0.282249	0.65498	T	-0.253006	0.13733	T	-0.321767	0.42381	T	0.177266955375671	0.19061	T	0.69903	0.30897	T	0.08015464	0.18352	0.11658176	0.28145	0.08015464	0.18352	0.11658176	0.28144	-9.15	0.68657	D	.	.	0.308	0.53625	B	.	.	3.569993	0.50272	22.9	0.99624906037892558	0.75655	0.88424	0.48345	D	AEFDBI	0.540651	0.55713	D	0.31738882381548	0.57040	3.870061	0.297240762999272	0.55377	3.700897	0.988167971168426	0.31434	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.13	5.13	0.69729	1.970000	0.40144	7.340000	0.58244	0.676000	0.76740	0.985000	0.35982	1.000000	0.68203	0.008000	0.08271	0.0:0.0:1.0:0.0	16.123	0.81185	531	0.73574	.	.	.	.	.	.	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	1377.98	34	chr1	151802094	.	G	A	1377.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.762;DP=793;ExcessHet=0.0000;FS=2.876;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.84;ReadPosRankSum=-2.900e-01;SOR=0.727	GT:AD:DP:GQ:PL	0/1:35,52:87:99:1392,0,823	20	0	1	0
chr1	152213231	152213231	G	T	exonic	HRNR	.	nonsynonymous SNV	HRNR:NM_001009931:exon3:c.C8398A:p.Q2800K,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.053	B	0.002	B	.	.	1.000	N	0.55	N	4.3	T	-0.911	T	0.001	T	0.235	0.459	6.493	-3.63	-1.324	-1.320	3.219	0.017	0.00205980800472	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.213	0.26467	T	0.053	0.22573	B	0.002	0.06944	B	.	.	.	.	1	0.08975	N	1.04	0.26193	L	4.3	0.02437	T	-0.59	0.17624	N	0.225	0.25253	-0.9109	0.46744	T	0.001	0.00408	T	9	0.06558767	0.08870	T	0.00206	0.03775	T	0.017	0.02790	0.277	0.23004	0.219573609325	0.21563	0.004191916661665486	0.00393	.	.	0.271818518639	0.06380	T	0.013781	0.11858	T	-0.269417	0.11821	T	-0.624776	0.10814	T	0.101291604982006	0.12499	T	0.335166	0.07140	T	0.19959433	0.41904	0.13407904	0.32138	0.19959433	0.41904	0.13407904	0.32137	-6.95	0.53668	T	.	.	0.123	0.25817	B	.	.	-0.179348	0.03198	0.528	0.7087443078641622	0.09440	0.01719	0.05448	N	AEFI	0.033248	0.03905	N	-1.51696118221684	0.01738	0.07609423	-1.59849021593492	0.01664	0.07557488	7.50904644749043E-5	0.04552	0.487112	0.14033	0	0.547309	0.14657	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	2.76	-3.63	0.04238	-1.326000	0.02792	.	.	0.487000	0.22268	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.3997:0.0:0.4171:0.1831	3.219	0.06309	567	0.70732	.	.	.	.	.	.	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	3914.98	45	chr1	152213231	.	G	T	3914.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-8.230e-01;DP=1098;ExcessHet=0.0000;FS=0.881;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.30;MQRankSum=-4.295e+00;QD=12.67;ReadPosRankSum=2.84;SOR=0.751	GT:AD:DP:GQ:PL	0/1:167,142:309:99:3929,0,4731	20	0	1	0
chr1	152304127	152304127	C	T	exonic	FLG	.	nonsynonymous SNV	FLG:NM_002016:exon3:c.G10759A:p.G3587S,	Ichthyosis vulgaris, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.98	T	0.89	P	0.362	B	.	.	1.000	N	0.77	N	5.56	T	-0.900	T	0.000	T	0.119	-0.099	3.513	-6.48	-3.276	-3.237	1.876	0.056	.	.	.	0.0071	0.0693	0.0026	0.0096	0	0.0002	0.0022	0.0009	0.0001921	5	26028	rs111939167	0.0005	0.0005	0.0005	0.0004	0.0145	0.0004	0.0004	0.0134	0.0130	0.0145	0.0004	0	2.581e-05	0	0.0007	9.457e-05	0.0007	1.194e-05	0.0035	0.0041	0.0039	0.0032	0.0123	0.0033	0.0032	0.0114	0.0110	0.0123	0	0.0007	0	0	0	0	0.0002	0.0051	0.0003	0.321	0.13522	T	.	.	.	0.89	0.48942	P	0.362	0.43260	B	.	.	.	.	1	0.08975	N	1.32	0.33002	L	5.56	0.00864	T	-0.38	0.13418	N	0.036	0.01068	-0.9004	0.47952	T	0.000	0.00152	T	9	0.0036518872	0.00067	T	.	.	.	0.056	0.15993	.	.	0.0666544352282	0.05500	0.012961986188588863	0.01254	.	.	0.207848519087	0.00723	T	0.017932	0.14543	T	-0.703876	0.00035	T	-0.769565	0.02782	T	0.00858069079330689	0.00105	T	0.412459	0.10726	T	0.032516934	0.03293	0.035238698	0.02738	0.032516934	0.03293	0.035238698	0.02738	-7.131	0.54984	T	.	.	0.073	0.04599	B	.	.	-0.827170	0.01055	0.045	0.67204668732341843	0.08285	0.00073	0.00509	N	AEFBI	0.019574	0.00692	N	-1.56133816822513	0.01470	0.06413908	-1.79243224205422	0.00784	0.03496011	0.584559966993551	0.21598	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.24	-6.48	0.01726	-3.241000	0.00601	.	.	-2.256000	0.00335	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2398:0.387:0.2291:0.1442	1.876	0.03023	557	0.71576	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	6682.98	33	chr1	152304127	.	C	T	6682.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.060e-01;DP=2962;ExcessHet=0.0000;FS=34.172;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=43.76;MQRankSum=9.99;QD=27.06;ReadPosRankSum=5.45;SOR=0.087	GT:AD:DP:GQ:PL	0/1:75,172:247:99:6697,0,2560	20	0	1	0
chr1	152306286	152306286	A	C	exonic	FLG	.	nonsynonymous SNV	FLG:NM_002016:exon3:c.T8600G:p.I2867S,	Ichthyosis vulgaris, Autosomal dominant	.	1	1398	122	1	0	124	0.0424658	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.0	B	0.0	B	.	.	1.000	N	-2.39	N	4.44	T	-0.932	T	0.000	T	0.219	-0.051	3.752	-2.54	-0.039	-2.014	5.099	0.028	.	.	0.0139776	1.664e-05	0	0.0002	0	0	0	0	0	0.0026894	70	26028	rs562496957	0.0004	0.0017	0.0004	0.0004	0.0182	0.0004	0.0004	0.0169	0.0164	0.0182	0.0001	0	5.157e-05	0	0	4.499e-06	0.0002	4.649e-05	0.0001	0.0087	0.0001	0.0001	0.0007	8.399e-05	6.959e-05	0.0002	0.0001	0.0003	0	0.0003	0	0.0007	9.781e-05	0	1.508e-05	0	0	1.0	0.00964	T	.	.	.	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	-2.695	0.00033	N	4.44	0.02139	T	1.22	0.01051	N	0.108	0.09349	-0.9320	0.43844	T	0.000	0.00114	T	9	0.005701959	0.00127	T	.	.	.	0.028	0.06331	.	.	0.0666544352282	0.05500	0.03254880392644141	0.03202	.	.	0.232478544116	0.02157	T	0.011277	0.10082	T	-0.338118	0.05519	T	-0.72346	0.04630	T	0.0612642933428966	0.07366	T	0.29767	0.05533	T	0.03513105	0.04077	0.070264496	0.14906	0.03513105	0.04077	0.070264496	0.14905	0.608	0.00192	T	.	.	0.072	0.04316	B	.	.	-0.356046	0.02382	0.263	0.50286818611689099	0.04358	0.00033	0.00296	N	AEFI	0.012106	0.00124	N	-1.93142500550348	0.00296	0.01268816	-1.86376335753537	0.00576	0.0255669	2.65845221984093E-5	0.03498	0.553676	0.25195	0	0.573888	0.26702	0	0.573888	0.23631	0	0.620846	0.47308	0	.	.	3.09	-2.54	0.05941	-0.796000	0.04680	.	.	-0.434000	0.05191	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.3682:0.2705:0.3613:0.0	5.099	0.14083	561	0.71236	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	0.07143	2989.68	73	chr1	152306286	.	A	C	2989.68	.	AC=3;AF=0.071;AN=42;BaseQRankSum=-3.179e+00;DP=10972;ExcessHet=0.3300;FS=0.960;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=53.22;MQRankSum=-8.047e+00;QD=0.95;ReadPosRankSum=6.54;SOR=0.635	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:804,99:903:99:0|1:152306286_A_C:1656,0,33146:152306286	18	0	3	0
chr1	152306292	152306292	-	CC	exonic	FLG	.	frameshift insertion	FLG:NM_002016:exon3:c.8593_8594insGG:p.A2865Gfs*28,	Ichthyosis vulgaris, Autosomal dominant	.	0	1397	124	1	0	126	0.0431507	.	.	1019162	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1205280854	0.0003	0.0016	0.0004	0.0003	0.0150	0.0003	0.0003	0.0139	0.0134	0.0150	8.971e-05	0	5.141e-05	0	0	0	0.0001	3.488e-05	9.776e-05	0.0079	0.0001	8.565e-05	0.0006	5.861e-05	4.725e-05	0.0002	8.916e-05	0.0002	0	0.0002	0	0.0006	9.509e-05	0	1.482e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	2642.64	73	chr1	152306292	.	G	GCC	2642.64	.	AC=3;AF=0.071;AN=42;BaseQRankSum=-3.361e+00;DP=11022;ExcessHet=0.3300;FS=0.000;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=53.58;MQRankSum=-8.171e+00;QD=0.82;ReadPosRankSum=6.68;SOR=0.665	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:821,96:917:99:0|1:152306286_A_C:1540,0,33988:152306286	18	0	3	0
chr1	152306295	152306296	TG	-	exonic	FLG	.	frameshift deletion	FLG:NM_002016:exon3:c.8590_8591del:p.H2864Cfs*5,	Ichthyosis vulgaris, Autosomal dominant	.	1	1401	119	1	0	121	0.0413958	.	.	1019163	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1407703398	0.0003	0.0015	0.0003	0.0002	0.0132	0.0003	0.0003	0.0121	0.0117	0.0132	8.971e-05	0	2.574e-05	0	0	0	8.32e-05	3.487e-05	7.227e-05	0.0080	7.064e-05	7.397e-05	0.0005	3.847e-05	2.957e-05	8.069e-05	3.381e-05	0.0001	0	0.0001	0	0.0005	9.714e-05	0	1.499e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	2402.64	73	chr1	152306294	.	ATG	A	2402.64	.	AC=3;AF=0.071;AN=42;BaseQRankSum=-2.519e+00;DP=11062;ExcessHet=0.3300;FS=1.021;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=53.84;MQRankSum=-8.412e+00;QD=0.73;ReadPosRankSum=5.83;SOR=0.706	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:830,95:925:99:0|1:152306286_A_C:1491,0,34513:152306286	18	0	3	0
chr1	152306299	152306299	T	A	exonic	FLG	.	nonsynonymous SNV	FLG:NM_002016:exon3:c.A8587T:p.T2863S,	Ichthyosis vulgaris, Autosomal dominant	.	1	1406	114	1	0	116	0.0396175	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.38	T	0.477	P	0.241	B	.	.	1.000	N	0.85	L	4.7	T	-0.932	T	0.002	T	0.218	0.206	5.112	0.398	0.092	.	3.431	0.011	0.00815051428836	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1271569013	0.0003	0.0015	0.0003	0.0002	0.0126	0.0003	0.0002	0.0116	0.0112	0.0126	8.971e-05	0	2.571e-05	0	0	4.498e-06	9.984e-05	1.162e-05	0.0002	0.0082	0.0002	0.0002	0.0005	0.0001	0.0001	0.0003	0.0003	0.0005	0	0.0001	0	0.0005	9.694e-05	0	4.498e-05	0.0005	0	0.75	0.03587	T	.	.	.	0.477	0.36687	P	0.241	0.38645	B	.	.	.	.	1	0.08975	N	1.105	0.28596	L	4.7	0.01673	T	0.28	0.04233	N	0.048	0.01999	-0.9323	0.43799	T	0.002	0.00526	T	9	0.06755382	0.09427	T	0.008151	0.21598	T	0.011	0.01250	0.317	0.29419	0.162503812791	0.15892	0.035396750250694796	0.03486	.	.	0.270178943872	0.06164	T	0.009579	0.08713	T	-0.5121	0.00488	T	-0.68323	0.06789	T	0.0273883762299825	0.01600	T	0.216078	0.02692	T	0.025629967	0.01522	0.028810205	0.01152	0.025629967	0.01522	0.028810205	0.01152	-3.074	0.11000	T	.	.	0.090	0.12655	B	.	.	-0.112232	0.03568	0.691	0.56914044250386053	0.05655	0.01371	0.04680	N	AEFI	0.036336	0.04825	N	-0.963681291731912	0.09387	0.4441023	-1.1154303731441	0.07405	0.3600705	1.18193506777854E-5	0.02871	0.553676	0.25195	0	0.573888	0.26702	0	0.573888	0.23631	0	0.620846	0.47308	0	.	.	1.59	0.398	0.15542	-0.081000	0.11285	.	.	-1.396000	0.01145	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.2327:0.0:0.7673	3.431	0.06999	561	0.71236	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	1	0	0	0	0.07143	2304.68	73	chr1	152306299	.	T	A	2304.68	.	AC=3;AF=0.071;AN=42;BaseQRankSum=-1.859e+00;DP=11064;ExcessHet=0.3300;FS=1.018;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=54.16;MQRankSum=-8.642e+00;QD=0.70;ReadPosRankSum=5.14;SOR=0.747	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:835,94:929:99:0|1:152306286_A_C:1434,0,34779:152306286	18	0	3	0
chr1	152308189	152308189	G	A	exonic	FLG	.	nonsynonymous SNV	FLG:NM_002016:exon3:c.C6697T:p.P2233S,	Ichthyosis vulgaris, Autosomal dominant	.	0	1515	7	0	0	7	0.00230491	.	.	1212831	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	1	T	0.001	B	0.001	B	.	.	1.000	N	-0.965	N	4.3	T	-0.961	T	0.001	T	0.054	0.125	4.672	-1.57	-0.944	-0.683	4.148	0.004	.	.	0.0960463	0.0735	0.0496	0.1275	0.1747	0.0454	0.0408	0.0874	0.1412	0.0185185	482	26028	rs554101492	1.528e-05	0.0018	1.382e-05	1.675e-05	0.0003	1e-05	8.54e-06	0.0001	9.545e-05	0.0003	2.298e-05	3.949e-05	0.0002	0	0	9.052e-07	3.409e-05	1.173e-05	0.0003	0.0024	0.0003	0.0003	0.0012	0.0002	0.0002	0.0009	0.0008	0.0012	0	8.672e-05	0	0	0	0	1.605e-05	0.0006	0	1.0	0.00964	T	.	.	.	0.001	0.07471	B	0.001	0.04355	B	.	.	.	.	1	0.08975	N	-1.395	0.00601	N	4.3	0.02437	T	1.91	0.00451	N	0.008	0.00068	-0.9605	0.39087	T	0.001	0.00255	T	9	0.0018798709	0.00025	T	.	.	.	0.004	0.00165	.	.	.	.	0.029313450860666244	0.02880	.	.	0.304487228394	0.11073	T	0.01038	0.09377	T	-0.447237	0.01172	T	-0.880202	0.00652	T	2.24857303692261e-05	0.00000	T	0.319968	0.06445	T	0.027036702	0.01840	0.055778548	0.09847	0.027036702	0.01840	0.055778548	0.09846	-0.483	0.00573	T	.	.	0.060	0.00964	B	.	.	-0.885456	0.00951	0.037	0.47396621960842494	0.03872	0.00015	0.00188	N	AEFBI	0.011451	0.00102	N	-2.15348255860688	0.00097	0.004172051	-2.11798322117101	0.00170	0.007491309	2.09241646541864E-5	0.02871	0.553676	0.25195	0	0.573888	0.26702	0	0.573888	0.23631	0	0.620846	0.47308	0	.	.	2.89	-1.57	0.08055	-1.124000	0.03372	.	.	-1.524000	0.01001	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.5225:0.1777:0.2998:0.0	4.148	0.09690	563	0.71062	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	478.98	67	chr1	152308189	.	G	A	478.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=4.22;DP=5242;ExcessHet=0.0000;FS=9.398;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=58.87;MQRankSum=-1.976e+01;QD=0.89;ReadPosRankSum=-7.602e+00;SOR=2.018	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:492,47:539:99:0|1:152308189_G_A:493,0,20518:152308189	20	0	1	0
chr1	152308194	152308194	G	T	exonic	FLG	.	stopgain	FLG:NM_002016:exon3:c.C6692A:p.S2231X,	Ichthyosis vulgaris, Autosomal dominant	.	0	1515	7	0	0	7	0.00230491	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.8	T	.	.	.	.	.	.	1.000	D	.	.	.	.	.	.	.	.	.	10.644	44	1.53	0.391	0.142	5.470	.	.	.	0.0960463	0.0738	0.0499	0.1290	0.1770	0.0452	0.0409	0.0874	0.1414	0.0185185	482	26028	rs536240526	4.279e-05	0.0025	4.326e-05	4.232e-05	0.0010	3.395e-05	3.077e-05	0.0007	0.0006	0.0010	4.667e-05	4.046e-05	0.0004	0	0	5.466e-06	0.0002	1.188e-05	0.0006	0.0029	0.0006	0.0006	0.0028	0.0005	0.0005	0.0022	0.0020	0.0028	0	0.0002	0	0	0	0	1.689e-05	0.0006	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.284	0.32148	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.336259	0.85584	D	0.245237	0.85395	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerant	High	5.828627	0.93730	33	0.94689239606745224	0.25331	0.01165	0.04195	N	AEFBI	0.017660	0.00478	N	-0.263201740900834	0.30579	1.706429	-0.647889126147857	0.18270	0.9752533	1.8516116629361E-5	0.02871	0.553676	0.25195	0	0.573888	0.26702	0	0.573888	0.23631	0	0.620846	0.47308	0	.	.	2.46	1.53	0.22224	0.240000	0.17822	.	.	-1.591000	0.00906	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1685:0.0:0.8315:0.0	5.470	0.15957	563	0.71062	.	.	.	.	.	.	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	0.02381	1017.98	67	chr1	152308194	.	G	T	1017.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=4.26;DP=5272;ExcessHet=0.0000;FS=12.310;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=58.80;MQRankSum=-1.890e+01;QD=1.79;ReadPosRankSum=-7.150e+00;SOR=1.860	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:508,61:569:99:0|1:152308189_G_A:1032,0,21147:152308189	20	0	1	0
chr1	152308195	152308195	A	C	exonic	FLG	.	nonsynonymous SNV	FLG:NM_002016:exon3:c.T6691G:p.S2231A,	Ichthyosis vulgaris, Autosomal dominant	YES	0	1513	9	0	0	9	0.0029654	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.81	T	0.001	B	0.013	B	.	.	1.000	N	-0.355	N	3.75	T	-0.970	T	0.001	T	0.056	-0.283	2.647	-5.35	-4.387	-3.551	6.785	0.020	.	.	0.0960463	0.0740	0.0504	0.1302	0.1788	0.0451	0.0409	0.0876	0.1417	0.0185185	482	26028	rs556324776	6.34e-05	0.0031	7.006e-05	5.667e-05	0.0013	5.246e-05	4.855e-05	0.0010	0.0009	0.0013	2.351e-05	4.081e-05	0.0005	0	0	1.918e-05	0.0002	1.197e-05	0.0007	0.0029	0.0007	0.0007	0.0031	0.0006	0.0005	0.0025	0.0023	0.0031	0	0.0003	0	0	0.0001	0	1.714e-05	0.0007	0	0.361	0.11882	T	.	.	.	0.001	0.07471	B	0.013	0.16460	B	.	.	.	.	1	0.08975	N	-0.165	0.04321	N	3.75	0.03922	T	-0.76	0.21215	N	0.008	0.00068	-0.9703	0.37136	T	0.001	0.00408	T	9	0.0016847253	0.00021	T	.	.	.	0.020	0.03691	.	.	.	.	0.023400691961431297	0.02292	.	.	0.250265181065	0.03796	T	0.01042	0.09410	T	-0.421068	0.01684	T	-0.842611	0.01060	T	0.0111847063957195	0.00164	T	0.113289	0.00862	T	0.049661875	0.08852	0.0466271	0.06541	0.049661875	0.08852	0.0466271	0.06541	-1.481	0.01726	T	.	.	0.07	0.03479	B	.	.	-0.108554	0.03590	0.701	0.38466588929725054	0.02596	0.00127	0.00790	N	AEFBI	0.024979	0.01634	N	-2.80467277842901	0.00003	0.0001331835	-2.84999607398235	0.00003	0.0001554434	0.937587305439055	0.27304	0.553676	0.25195	0	0.573888	0.26702	0	0.573888	0.23631	0	0.620846	0.47308	0	.	.	2.67	-5.35	0.02488	-0.933000	0.04067	.	.	-0.700000	0.04059	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.3562:0.4539:0.1899:0.0	6.785	0.22854	563	0.71062	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1095.98	67	chr1	152308195	.	A	C	1095.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=5.05;DP=5276;ExcessHet=0.0000;FS=9.755;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=58.76;MQRankSum=-1.912e+01;QD=1.91;ReadPosRankSum=-7.128e+00;SOR=1.699	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:510,63:573:99:0|1:152308189_G_A:1110,0,21225:152308189	20	0	1	0
chr1	152308209	152308209	C	A	exonic	FLG	.	nonsynonymous SNV	FLG:NM_002016:exon3:c.G6677T:p.G2226V,	Ichthyosis vulgaris, Autosomal dominant	.	0	1511	11	0	0	11	0.00362677	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.27	T	0.868	P	0.372	B	.	.	1.000	N	1.39	L	3.29	T	-0.974	T	0.005	T	0.196	-0.203	3.013	-1.95	-0.474	0.628	0.807	0.165	.	.	0.183307	0.0814	0.0632	0.1473	0.1924	0.0496	0.0461	0.0930	0.1461	0.0354234	922	26028	rs544807449	0.0005	0.0052	0.0005	0.0005	0.0130	0.0004	0.0004	0.0117	0.0113	0.0130	0.0008	0.0003	0.0046	0.0001	0.0013	5.441e-05	0.0017	0.0003	0.0018	0.0036	0.0016	0.0020	0.0088	0.0016	0.0015	0.0077	0.0072	0.0088	0	0.0005	0	0.0012	0.0004	0	5.587e-05	0.0015	0.0012	0.105	0.29823	T	.	.	.	0.868	0.47740	P	0.372	0.43610	B	.	.	.	.	1	0.08975	N	1.605	0.40863	L	3.29	0.06445	T	-2.19	0.49352	N	0.076	0.05037	-0.9736	0.36431	T	0.005	0.01578	T	9	0.0030772686	0.00051	T	.	.	.	0.165	0.42395	.	.	.	.	0.04323361185617763	0.04268	.	.	0.259808212519	0.04868	T	0.028284	0.20524	T	-0.29482	0.09157	T	-0.661265	0.08180	T	0.0260858363473376	0.01417	T	0.40156	0.10241	T	0.10558327	0.24963	0.10160429	0.24329	0.10558327	0.24963	0.10160429	0.24329	-6.387	0.49408	T	.	.	0.163	0.36053	B	.	.	0.777234	0.11474	8.076	0.62904335362991759	0.07083	0.02780	0.07486	N	AEFBI	0.039599	0.05774	N	-0.779306879523823	0.13850	0.6853526	-1.02305830469118	0.09279	0.460741	2.08373560863147E-5	0.02871	0.553676	0.25195	0	0.573888	0.26702	0	0.573888	0.23631	0	0.620846	0.47308	0	.	.	1.93	-1.95	0.07135	-0.009000	0.12703	.	.	0.291000	0.18778	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.2337:0.3704:0.2307:0.1652	0.807	0.01016	563	0.71062	.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	1	0	0	1	0	0	0	0.03333	2172.45	67	chr1	152308209	.	C	A	2172.45	.	AC=1;AF=0.033;AN=30;BaseQRankSum=5.86;DP=6163;ExcessHet=0.0000;FS=8.202;InbreedingCoeff=-0.1053;MLEAC=1;MLEAF=0.033;MQ=58.72;MQRankSum=-1.735e+01;QD=3.59;ReadPosRankSum=-6.881e+00;SOR=1.550	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:516,89:605:99:0|1:152308189_G_A:2184,0,21399:152308189	14	0	1	6
chr1	152308212	152308212	A	G	exonic	FLG	.	nonsynonymous SNV	FLG:NM_002016:exon3:c.T6674C:p.V2225A,	Ichthyosis vulgaris, Autosomal dominant	.	0	1511	11	0	0	11	0.00362677	.	.	1245031	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.8	T	0.001	B	0.0	B	.	.	1.000	N	0.18	N	3.97	T	-0.929	T	0.002	T	0.121	-0.415	2.064	-0.944	-0.120	0.691	.	0.037	.	.	0.183307	0.0849	0.0676	0.1618	0.2071	0.0519	0.0475	0.0976	0.1499	0.0354234	922	26028	rs116918835	0.0009	0.0054	0.0009	0.0009	0.0197	0.0008	0.0008	0.0181	0.0175	0.0197	0.0013	0.0008	0.0076	0.0002	0.0014	0.0001	0.0026	0.0020	0.0022	0.0037	0.0020	0.0024	0.0108	0.0019	0.0018	0.0095	0.0090	0.0108	0	0.0006	0	0.0014	0.0004	0	7.611e-05	0.0008	0.0013	1.0	0.00964	T	.	.	.	0.001	0.07471	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	0.18	0.09070	N	3.97	0.03326	T	0.73	0.02068	N	0.021	0.00339	-0.9292	0.44256	T	0.002	0.00526	T	8	0.0012171268	0.00013	T	.	.	.	0.037	0.09474	.	.	.	.	0.028666542745717876	0.02816	.	.	0.285316556692	0.08245	T	0.009382	0.08542	T	-0.378214	0.03197	T	-0.781055	0.02422	T	0.000276302609008336	0.00002	T	0.166283	0.01543	T	0.032984942	0.03429	0.09148293	0.21510	0.032984942	0.03429	0.09148293	0.21510	-4.226	0.27126	T	.	.	0.061	0.01075	B	.	.	-0.504175	0.01853	0.149	0.39177539384107868	0.02688	0.00100	0.00648	N	AEFBI	0.016280	0.00357	N	-1.58518500512031	0.01340	0.05839091	-1.65704622896125	0.01340	0.06047888	1.29783415351714E-5	0.02871	0.553676	0.25195	0	0.573888	0.26702	0	0.573888	0.23631	0	0.620846	0.47308	0	.	.	0.693	-0.944	0.09862	-1.778000	0.01875	.	.	-2.058000	0.00414	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	563	0.71062	.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	1	0	0	1	0	0	0	0.03571	2358.0	67	chr1	152308212	.	A	G	2358.0	.	AC=1;AF=0.036;AN=28;BaseQRankSum=13.32;DP=6368;ExcessHet=0.0000;FS=11.396;InbreedingCoeff=-0.1200;MLEAC=1;MLEAF=0.036;MQ=58.74;MQRankSum=-1.694e+01;QD=3.84;ReadPosRankSum=-5.918e+00;SOR=1.727	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:520,94:614:99:0|1:152308189_G_A:2369,0,21501:152308189	13	0	1	7
chr1	152308312	152308312	T	C	exonic	FLG	.	nonsynonymous SNV	FLG:NM_002016:exon3:c.A6574G:p.K2192E,	Ichthyosis vulgaris, Autosomal dominant	.	0	796	719	6	1	732	0.314679	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.0	B	0.0	B	.	.	1.000	N	-1.1	N	4.69	T	-0.977	T	0.001	T	0.055	0.459	6.492	1.99	-0.043	0.245	5.49	0.020	0.00691589360876	.	.	0.0001	0	0	0	0	7.497e-05	0.0011	0.0005	3.84e-05	1	26028	rs66954353	6.506e-05	6.501e-05	5.314e-05	7.711e-05	0.0003	5.434e-05	5.047e-05	0.0002	0.0001	0	0	0	0	0	0.0003	6.12e-05	6.632e-05	0.0002	3.965e-05	3.949e-05	5.161e-05	2.709e-05	8.841e-05	1.723e-05	1.135e-05	3.769e-05	2.58e-05	0	0	0	0	0	0	0	8.841e-05	0	0	0.358	0.11994	T	.	.	.	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	-0.41	0.02942	N	4.69	0.01694	T	0.47	0.03090	N	0.081	0.05670	-0.9769	0.35705	T	0.001	0.00188	T	9	0.027516663	0.00896	T	0.006916	0.18289	T	0.020	0.03691	0.3	0.26683	0.130388298395	0.12655	0.016309325306619656	0.01586	.	.	0.271451950073	0.06331	T	0.020219	0.15960	T	-0.62899	0.00097	T	-0.830759	0.01249	T	0.0464902013553936	0.04873	T	0.277072	0.04771	T	0.060441438	0.12404	0.05331553	0.08958	0.060441438	0.12404	0.05331553	0.08957	-3.692	0.19200	T	.	.	0.087	0.11124	B	.	.	0.351483	0.07246	3.845	0.59927330293800163	0.06340	0.00148	0.00897	N	AEFBI	0.014498	0.00233	N	-1.55397975177907	0.01512	0.06600387	-1.49818149083929	0.02359	0.1083893	1.85635635730227E-5	0.02871	0.553676	0.25195	0	0.573888	0.26702	0	0.573888	0.23631	0	0.620846	0.47308	0	.	.	2.99	1.99	0.25423	-0.351000	0.07760	.	.	-1.790000	0.00639	0.000000	0.06391	0.004000	0.18990	0.000000	0.00833	0.0:0.2239:0.546:0.2301	5.49	0.16063	563	0.71062	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2619	79746.79	67	chr1	152308312	.	T	G,C	79746.79	.	AC=10,1;AF=0.238,0.024;AN=42;BaseQRankSum=-5.400e-01;DP=8463;ExcessHet=7.7275;FS=0.000;InbreedingCoeff=-0.3548;MLEAC=10,1;MLEAF=0.238,0.024;MQ=58.40;MQRankSum=-1.301e+01;QD=10.85;ReadPosRankSum=2.95;SOR=0.689	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:490,401,0:891:99:.:.:10804,0,13734,12275,14937,27212	10	0	10	0
chr1	152623066	152623066	G	A	exonic	LCE3A	.	nonsynonymous SNV	LCE3A:NM_178431:exon1:c.C38T:p.P13L,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	T	1.0	D	0.903	P	.	.	1.000	N	.	.	2.63	T	-1.035	T	0.023	T	0.328	-0.425	2.020	2.26	0.630	0.204	7.996	0.066	0.00187651565016	.	.	.	.	.	.	.	.	.	.	.	.	.	rs757420029	2.052e-06	2.052e-06	1.361e-06	2.75e-06	2.236e-05	5.5e-07	1.5e-07	.	.	0	2.236e-05	3.826e-05	0	0	0	0	0	1.159e-05	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	0.2	0.20381	T	0.052	0.47581	T	1.0	0.90584	D	0.903	0.64103	P	.	.	.	.	0.999991	0.08975	N	.	.	.	2.63	0.12884	T	-5.06	0.82764	D	0.269	0.30461	-1.0348	0.18920	T	0.023	0.09787	T	8	0.25301987	0.42664	T	0.001877	0.03299	T	0.066	0.19193	0.197	0.10975	0.471132149292	0.46741	0.08448989595790668	0.08382	0.0739716736363	0.08289	0.305277705193	0.11193	T	0.25802	0.62913	T	-0.237378	0.15684	T	-0.578754	0.14655	T	0.308939248323441	0.25371	T	0.343766	0.07508	T	0.039814927	0.05566	0.07069628	0.15051	0.039814927	0.05566	0.07069628	0.15051	-5.806	0.44626	T	.	.	0.141	0.31023	B	.	.	0.883569	0.12567	9.096	0.78303717347894308	0.12242	0.10561	0.16033	N	AEFBCIJ	0.035463	0.04571	N	-0.308215574824777	0.28835	1.593829	-0.523738895749175	0.21509	1.163916	0.99880609276447	0.37711	0.500041	0.20204	0	0.624306	0.53593	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	3.23	2.26	0.27418	0.363000	0.20037	.	.	-0.138000	0.12486	0.200000	0.24308	0.000000	0.08366	0.016000	0.10718	0.0:0.27:0.73:0.0	7.996	0.29428	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	0.02381	1990.98	35	chr1	152623066	.	G	A	1990.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.03;DP=861;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.01;ReadPosRankSum=-1.368e+00;SOR=0.747	GT:AD:DP:GQ:PL	0/1:79,74:153:99:2005,0,2128	20	0	1	0
chr1	152760522	152760522	C	T	exonic	KPRP	.	nonsynonymous SNV	KPRP:NM_001025231:exon2:c.C934T:p.R312C,	.	.	426	1094	1	0	1	2	0.00045683	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.005	B	0.004	B	0.100	N	1.000	N	0.55	N	2.36	T	-0.936	T	0.010	T	0.045	1.050	9.290	-8.26	-1.006	-0.771	9.349	0.033	.	0.0053	0.00479233	0.0017	0.0180	0.0011	0	0	3.004e-05	0	0	0.0015524	240	154602	rs140912923	0.0005	0.0005	0.0006	0.0004	0.0189	0.0005	0.0005	0.0177	0.0172	0.0189	0.0008	0	0	0	0.0010	1.799e-05	0.0009	3.478e-05	0.0053	0.0053	0.0057	0.0049	0.0186	0.0050	0.0049	0.0175	0.0171	0.0186	0	0.0012	0	0	0	0.0034	2.94e-05	0.0047	0.0002	.	.	.	0.076	0.42614	T	0.005	0.12996	B	0.004	0.10090	B	0.100084	0.02539	N	1.822830	1	0.08975	N	1.935	0.51832	L	.	.	.	.	.	.	0.139	0.13769	-0.9362	0.43211	T	0.010	0.03492	T	10	0.0031962097	0.00054	T	.	.	.	.	.	.	.	0.146414634003	0.14194	0.1735743323120826	0.17277	.	.	0.279063463211	0.07362	T	0.006336	0.05774	T	-0.689574	0.00042	T	-0.747707	0.03576	T	0.00386149244982339	0.00041	T	0.509649	0.16214	T	0.066476375	0.14306	0.034789033	0.02610	0.066476375	0.14306	0.034789033	0.02610	-6.316	0.48848	T	.	.	0.231	0.46401	B	.	.	1.310272	0.17132	12.98	0.94962909798314921	0.25882	0.01036	0.03877	N	AEFDBI	0.061282	0.11703	N	-1.46851895333485	0.02075	0.09126788	-1.56652383873593	0.01864	0.0849831	0.999999946317396	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.3	-8.26	0.00895	-0.778000	0.04770	.	.	-0.184000	0.09925	0.000000	0.06391	0.001000	0.17328	0.005000	0.06747	0.1476:0.6376:0.1235:0.0913	9.349	0.37291	729	0.54495	.	.	.	.	.	.	Likely benign	0	0	0	0	0	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	4152.98	40	chr1	152760522	.	C	T	4152.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.96;DP=3220;ExcessHet=0.0000;FS=0.427;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.27;ReadPosRankSum=0.666;SOR=0.744	GT:AD:DP:GQ:PL	0/1:136,155:291:99:4167,0,2989	20	0	1	0
chr1	152910506	152910506	C	0	exonic	IVL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5263	10818.93	25	chr1	152910506	.	C	CAGCAGCAGGAGGGGCAGCTGGAGCTCTCTG,G,*	10818.93	.	AC=18,2,2;AF=0.474,0.053,0.053;AN=38;BaseQRankSum=-2.960e-01;DP=998;ExcessHet=1.5433;FS=1.193;InbreedingCoeff=-0.0466;MLEAC=19,2,2;MLEAF=0.500,0.053,0.053;MQ=55.69;MQRankSum=0.00;QD=23.78;ReadPosRankSum=-1.521e+00;SOR=0.793	GT:AD:DP:GQ:PL	0/3:20,0,0,10:30:99:329,389,1041,389,1041,1041,0,652,652,610	3	4	8	2
chr1	153003387	153003387	A	C	exonic	SPRR3	.	nonsynonymous SNV	SPRR3:NM_001097589:exon2:c.A367C:p.I123L	.	.	.	.	.	.	.	.	.	.	.	2256086	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.09	T	0.076	B	0.08	B	.	.	1.000	N	0.69	N	2.79	T	-0.898	T	0.006	T	0.318	1.789	11.94	-9.19	-1.588	-0.453	7.229	0.021	0.0101778520735	.	.	.	.	.	.	.	.	.	.	.	.	.	rs372343205	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.571e-06	6.566e-06	1.285e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.119	0.31235	T	0.39	0.17804	T	0.076	0.24253	B	0.038	0.23361	B	.	.	.	.	1	0.08975	N	1.245	0.31408	L	2.79	0.11189	T	-0.15	0.09297	N	0.204	0.23380	-0.8976	0.48234	T	0.006	0.01944	T	9	0.10499829	0.19386	T	0.010178	0.26412	T	0.021	0.04004	0.384	0.40298	0.192905019026	0.18896	0.005438126425422563	0.00514	7.12783148257E-4	0.00066	0.224216341972	0.01567	T	0.004989	0.04418	T	-0.257239	0.13225	T	-0.607282	0.12207	T	0.124512065962157	0.14865	T	0.271273	0.04975	T	0.1270363	0.29739	0.08171538	0.18592	0.1270363	0.29739	0.08171538	0.18591	-6.045	0.46654	T	.	.	0.081	0.08272	B	.;.;.	.;.;.	0.330653	0.07045	3.611	0.78781005355514477	0.12449	0.00323	0.01694	N	AEFGBI	0.025021	0.01644	N	-1.32728282979546	0.03366	0.1502571	-1.47804364072223	0.02525	0.1162784	0.743178370890394	0.23244	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.6	-9.19	0.00583	-0.538000	0.06209	.	.	0.665000	0.62972	0.000000	0.06391	0.002000	0.18203	0.014000	0.10232	0.2563:0.4253:0.0:0.3184	7.229	0.25208	800	0.44535	.;.;.	.	.	.	.	.	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	2637.98	116	chr1	153003387	.	A	C	2637.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.52;DP=2969;ExcessHet=0.0000;FS=0.484;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.67;ReadPosRankSum=-1.453e+00;SOR=0.732	GT:AD:DP:GQ:PL	0/1:124,102:226:99:2652,0,3349	20	0	1	0
chr1	153345352	153345352	G	C	exonic	PGLYRP4	.	nonsynonymous SNV	PGLYRP4:NM_020393:exon4:c.C170G:p.S57C,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	1.0	D	0.975	D	.	.	1.000	N	0.975	L	1.8	T	-1.096	T	0.048	T	0.283	2.162	13.19	2.21	0.615	2.320	7.246	0.068	0.00660655548279	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1200175709	3.42e-06	3.42e-06	1.361e-06	5.5e-06	5.974e-05	1e-06	7.3e-07	9.89e-06	3.7e-06	5.974e-05	0	0	0	0	0	2.698e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.012	0.54683	D	0.002	0.79402	D	1.0	0.90584	D	0.944	0.73362	D	.	.	.	.	0.999999	0.08975	N	2.28	0.64929	M	1.8	0.25344	T	-1.75	0.48687	N	0.444	0.55106	-1.0958	0.04639	T	0.048	0.20553	T	9	0.3948355	0.55151	T	0.006607	0.17444	T	0.068	0.19811	0.483	0.56462	0.496036935653	0.49239	0.3656607908325012	0.36480	0.315751085557	0.33850	0.339090108871	0.16302	T	0.318782	0.69012	T	-0.165327	0.25942	T	-0.475257	0.24952	T	0.473404914140701	0.31656	T	0.630337	0.29780	T	0.11963978	0.28167	0.11210187	0.27046	0.11963978	0.28167	0.11210187	0.27045	-7.941	0.60667	D	.	.	0.179	0.39391	B	.;.	.;.	3.165636	0.42909	21.6	0.98737845933389035	0.45452	0.10500	0.15990	N	AEFDBCI	0.051175	0.09016	N	-0.0257415966020602	0.40693	2.420951	-0.154785551813003	0.33226	1.898325	0.999993786589157	0.74766	0.553676	0.25195	0	0.587068	0.34093	0	0.618467	0.43123	0	0.542086	0.14980	0	.	.	3.2	2.21	0.27042	1.923000	0.39685	5.866000	0.50483	0.618000	0.50648	0.113000	0.23048	0.996000	0.32793	0.313000	0.24807	0.0:0.0:0.7354:0.2646	7.246	0.25296	831	0.39019	Peptidoglycan recognition protein family domain, metazoa/bacteria;.	.	.	.	.	.	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	1193.98	34	chr1	153345352	.	G	C	1193.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-7.560e-01;DP=816;ExcessHet=0.0000;FS=0.805;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.57;ReadPosRankSum=0.230;SOR=0.577	GT:AD:DP:GQ:PL	0/1:41,47:88:99:1208,0,1097	20	0	1	0
chr1	153534700	153534700	C	T	exonic	S100A6	.	nonsynonymous SNV	S100A6:NM_014624:exon3:c.G269A:p.G90D,	.	.	.	.	.	.	.	.	.	.	.	696119	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.02	D	0.0	B	0.001	B	0.080	N	1.000	N	.	.	3.59	T	-0.931	T	0.004	T	0.06	3.522	17.98	-0.208	-0.003	-0.645	3.820	0.138	.	0.0082	0.00738818	0.0025	0.0263	0.0012	0	0	4.566e-05	0	0.0001	0.0023156	358	154602	rs2228293	0.0008	0.0008	0.0009	0.0007	0.0286	0.0008	0.0008	0.0271	0.0265	0.0286	0.0013	0	0	0	0.0023	3.428e-05	0.0021	0.0002	0.0076	0.0076	0.0076	0.0076	0.0263	0.0072	0.0071	0.0250	0.0245	0.0263	0	0.0030	0	0	0	0.0068	5.88e-05	0.0057	0.0002	0.002	0.72154	D	0.0	0.92824	D	0.0	0.02946	B	0.001	0.04355	B	0.080197	0.20940	N	0.384200	1	0.08975	N	.	.	.	3.59	0.04544	T	1.66	0.00606	N	0.078	0.05414	-0.9310	0.43992	T	0.004	0.01192	T	9	0.003377676	0.00059	T	.	.	.	0.138	0.37187	.	.	0.313210971179	0.30940	0.25720772501050937	0.25634	0.67148558951	0.59462	0.337431371212	0.16053	T	0.087389	0.37932	T	-0.685069	0.00045	T	-0.736559	0.04037	T	0.0495612048346173	0.05423	T	0.533147	0.17760	T	0.5672965	0.70912	0.24794206	0.50335	0.5672965	0.70913	0.24794206	0.50334	-2.72	0.07472	T	.	.	0.180	0.39254	B	.;.;.	.;.;.	2.076588	0.26409	17.11	0.96746485227790391	0.30943	0.11941	0.16959	N	AEFDGBHCI	0.242276	0.36376	N	-0.749283832021638	0.14653	0.7317389	-0.783164906994346	0.14907	0.7814016	0.999997943953738	0.74766	0.733237	0.96898	0	0.709663	0.81188	0	0.723109	0.80598	0	0.621717	0.48901	0	.	.	4.52	-0.208	0.12536	0.114000	0.15353	0.671000	0.20594	0.599000	0.40250	0.000000	0.06391	0.003000	0.18671	0.986000	0.61781	0.0:0.4455:0.1815:0.3731	3.820	0.08348	830	0.39242	.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	415.98	34	chr1	153534700	.	C	T	415.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.046e+00;DP=726;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=7.85;ReadPosRankSum=1.76;SOR=0.743	GT:AD:DP:GQ:PL	0/1:37,16:53:99:430,0,1090	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	0/1:113,45:164:2:2,0,1620	6	0	15	0
chr1	154012300	154012300	T	C	exonic	NUP210L	.	nonsynonymous SNV	NUP210L:NM_001159484:exon34:c.A4724G:p.N1575S	.	.	428	1085	9	0	0	9	0.00413034	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.54	T	0.008	B	0.003	B	0.001	N	0.999	N	1.1	L	3.57	T	-0.933	T	0.012	T	0.022	0.848	8.426	2.45	0.178	1.370	8.136	0.046	0.0115525975168	0.0005	.	0.0005	0	0.0004	0	0	0.0007	0.0011	0	0.0004204	65	154602	rs200793752	0.0004	0.0004	0.0004	0.0004	0.0040	0.0004	0.0004	0.0027	0.0023	5.976e-05	0.0002	0	0	0.0001	0.0040	0.0005	0.0002	6.957e-05	0.0003	0.0003	0.0004	0.0003	0.0006	0.0003	0.0002	0.0005	0.0004	0.0001	0	6.561e-05	0	0	0.0003	0	0.0006	0.0005	0	0.535	0.09430	T	0.198	0.32783	T	0.001	0.07471	B	0.002	0.06944	B	0.000506	0.43753	N	0.161181	0.999316	0.21372	N	1.345	0.33447	L	3.57	0.21666	T	-1.45	0.37178	N	0.221	0.25989	-0.9326	0.43755	T	0.012	0.04605	T	10	0.051190495	0.04963	T	0.011553	0.29287	T	0.046	0.12618	.	.	0.629801484396	0.62677	0.292387223421511	0.29151	0.232828200155	0.25818	0.328631043434	0.14728	T	0.054246	0.29669	T	-0.616989	0.00115	T	-0.7383	0.03963	T	0.0168013747724584	0.00435	T	0.708229	0.31875	T	0.06262222	0.13099	0.06999032	0.14817	0.06262222	0.13099	0.06999032	0.14817	-2.472	0.07320	T	.	.	0.080	0.07554	B	.;.;.	.;.;.	1.602750	0.20489	14.77	0.91105655770865912	0.20358	0.65890	0.32890	D	AEFDBI	0.134326	0.25430	N	-0.440825038683387	0.24052	1.29601	-0.276428410051594	0.28877	1.613467	1.5168561315472E-4	0.05650	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	6.0	2.45	0.28953	1.367000	0.33809	1.789000	0.28782	0.658000	0.54486	0.951000	0.33123	0.993000	0.31925	0.995000	0.73285	0.0:0.2257:0.0:0.7743	8.136	0.30212	83	0.96533	.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1981.98	34	chr1	154012300	.	T	C	1981.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-8.020e-01;DP=851;ExcessHet=0.0000;FS=0.588;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.87;ReadPosRankSum=-1.370e+00;SOR=0.641	GT:AD:DP:GQ:PL	0/1:75,79:154:99:1996,0,1963	20	0	1	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	2/5:0,0,8,0,0,6,0:14:99:878,752,734,264,266,220,752,734,266,734,752,734,266,734,734,354,358,0,358,358,319,752,734,266,734,734,358,734	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	2/5:0,0,8,0,0,6,0:14:99:878,752,734,264,266,220,752,734,266,734,752,734,266,734,734,354,358,0,358,358,319,752,734,266,734,734,358,734	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	2/5:0,0,8,0,0,6,0:14:99:878,752,734,264,266,220,752,734,266,734,752,734,266,734,734,354,358,0,358,358,319,752,734,266,734,734,358,734	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	2/5:0,0,8,0,0,6,0:14:99:878,752,734,264,266,220,752,734,266,734,752,734,266,734,734,354,358,0,358,358,319,752,734,266,734,734,358,734	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	2/5:0,0,8,0,0,6,0:14:99:878,752,734,264,266,220,752,734,266,734,752,734,266,734,734,354,358,0,358,358,319,752,734,266,734,734,358,734	0	1	0	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|1:45,14,0:59:99:0|1:156011822_G_A:284,0,1330,418,1371,1790:156011822	3	0	10	7
chr1	157696237	157696237	G	T	exonic	FCRL3	.	nonsynonymous SNV	FCRL3:NM_001320333:exon7:c.C935A:p.A312D	.	.	425	1093	4	0	0	4	0.00182648	.	.	3185040	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.4	T	0.774	P	0.74	P	0.019	N	1.000	N	2.495	M	2.32	T	-1.051	T	0.047	T	0.516	1.998	12.64	4.28	1.158	1.012	11.724	0.177	0.00493325533998	0.0062	0.00279553	0.0048	0.0015	0.0027	0	0.0045	0.0074	0.0044	0.0004	0.0049547	766	154602	rs115903952	0.0075	0.0075	0.0077	0.0073	0.0086	0.0074	0.0074	0.0085	0.0084	0.0011	0.0050	0.0172	0	0.0035	0.0050	0.0086	0.0071	0.0009	0.0054	0.0054	0.0057	0.0052	0.0076	0.0051	0.0050	0.0070	0.0068	0.0017	0.0044	0.0076	0.0153	0	0.0050	0.0034	0.0076	0.0062	0.0008	0.124	0.27426	T	0.339	0.18071	T	0.566	0.39915	P	0.142	0.37929	B	0.019201	0.27313	N	0.174549	1	0.08975	N	2.75	0.80375	M	2.32	0.16640	T	-2.67	0.57110	D	0.462	0.50508	-1.0508	0.14175	T	0.047	0.20156	T	10	0.005212784	0.00113	T	0.004933	0.12411	T	0.177	0.44549	.	.	0.409800938858	0.40592	0.22419077476748778	0.22334	0.0226205030519	0.02283	0.399206340313	0.24957	T	0.012942	0.11287	T	-0.474931	0.00792	T	-0.445587	0.28184	T	0.0324991904981843	0.02389	T	0.560744	0.19617	T	0.3363554	0.55988	0.37444058	0.62609	0.3363554	0.55988	0.37444058	0.62609	-9.316	0.69959	D	.	.	0.147	0.35767	B	.;.	.;.	2.676138	0.34902	19.75	0.99433577622096525	0.64374	0.08416	0.14348	N	AEFBI	0.115972	0.22780	N	-0.279748884527827	0.29931	1.664283	-0.392544628364154	0.25217	1.385516	0.015718760464501	0.12746	0.487112	0.14033	0	0.59043	0.45803	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.21	4.28	0.50183	1.177000	0.31578	1.258000	0.25213	0.676000	0.76740	0.003000	0.16062	0.001000	0.17328	0.562000	0.30459	0.0:0.1785:0.8215:0.0	11.724	0.50964	814	0.42100	.;Immunoglobulin|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype	.	.	.	.	rs115903952	Uncertain significance	0	0	0	0	0	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	889.98	34	chr1	157696237	.	G	T	889.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.717;DP=806;ExcessHet=0.0000;FS=0.770;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.90;ReadPosRankSum=0.217;SOR=0.576	GT:AD:DP:GQ:PL	0/1:62,38:100:99:904,0,1550	20	0	1	0
chr1	159830016	159830016	T	C	exonic	SLAMF8	.	nonsynonymous SNV	SLAMF8:NM_020125:exon2:c.T191C:p.F64S,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.45	T	0.02	B	0.011	B	0.000	D	0.999	N	0.975	L	1.96	T	-0.955	T	0.012	T	0.371	-1.956	0.007	3.3	0.722	1.548	5.940	0.066	0.00475109321857	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.84e-07	6.84e-07	1.361e-06	0	1.159e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.159e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.947	0.02161	T	0.0	0.92824	D	0.02	0.18235	B	0.011	0.15521	B	0.000254	0.46924	D	0.138721	1	0.21949	N	1.59	0.40313	L	1.96	0.22270	T	-1.4	0.34596	N	0.386	0.42737	-0.9552	0.40060	T	0.012	0.04510	T	10	0.12388924	0.23525	T	0.004751	0.11847	T	0.066	0.19193	0.505	0.59924	0.0611884634855	0.05136	0.5290967223202827	0.52833	0.105735292603	0.11956	0.555747389793	0.46666	T	0.01488	0.12588	T	-0.166753	0.25727	T	-0.477306	0.24733	T	0.0776635225163821	0.09685	T	0.578142	0.20837	T	0.16394989	0.36571	0.12309774	0.29686	0.16394989	0.36570	0.12309774	0.29686	-1.324	0.01440	T	.	.	0.462	0.62801	A	.	.	2.622689	0.34083	19.53	0.48680559594797213	0.04082	0.24627	0.22452	N	AEFBCI	0.099253	0.19984	N	-0.781592612538492	0.13789	0.6819202	-0.746890304435772	0.15798	0.8326886	0.999935867273523	0.46732	0.554377	0.28877	0	0.588066	0.40923	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	4.44	3.3	0.36912	1.536000	0.35678	5.986000	0.52250	0.603000	0.45986	0.743000	0.29058	1.000000	0.68203	0.351000	0.25682	0.0:0.1266:0.0:0.8734	5.940	0.18423	791	0.46100	.	.	.	.	.	.	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	1235.98	39	chr1	159830016	.	T	C	1235.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.834e+00;DP=880;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.00;ReadPosRankSum=-1.561e+00;SOR=0.744	GT:AD:DP:GQ:PL	0/1:53,50:103:99:1250,0,1423	20	0	1	0
chr1	160419212	160419212	C	T	exonic	VANGL2	.	nonsynonymous SNV	VANGL2:NM_020335:exon4:c.C403T:p.R135W,	Neural tube defects, Autosomal dominant	.	405	1116	1	0	0	1	0.000447828	.	.	2839803	Neural_tube_defect	Human_Phenotype_Ontology:HP:0045005,MONDO:MONDO:0018075,MedGen:C0027794,Orphanet:3388,Orphanet:823	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.01	D	0.998	D	0.82	P	0.000	D	1.000	D	2.14	M	-1.56	D	0.212	D	0.564	D	0.893	4.308	22.6	5.08	2.503	2.855	12.499	0.692	0.107417178333	.	.	9.96e-05	0	0	0	0	0.0002	0	0	8.41e-05	13	154602	rs757382979	8.906e-05	8.961e-05	9e-05	8.812e-05	0.0016	7.633e-05	7.178e-05	0.0008	0.0006	8.961e-05	0	0	0	0	0.0016	9.893e-05	0.0001	0	4.6e-05	4.597e-05	5.14e-05	4.035e-05	0.0001	2.109e-05	1.527e-05	2.262e-05	1.125e-05	0	0	0.0001	0	0	0	0	5.881e-05	0.0005	0	0.002	0.72154	D	0.014	0.62352	D	0.998	0.73220	D	0.82	0.59072	P	0.000000	0.84330	D	0.000000	1	0.81001	D	1.98	0.53716	M	-1.56	0.81815	D	-3.08	0.63323	D	0.887	0.88577	0.212	0.86120	D	0.564	0.84138	D	10	0.8581368	0.85020	D	0.107417	0.78348	D	0.692	0.88820	.	.	0.777260103886	0.77521	0.7994527969287729	0.79899	1.42610141697	0.85714	0.741966843605	0.73263	T	0.751721	0.93201	D	0.173509	0.71444	D	0.266503	0.86403	D	0.663174986839294	0.39036	D	0.982268	0.94010	D	0.4874394	0.66350	0.33923367	0.59691	0.4874394	0.66351	0.33923367	0.59690	-12.277	0.86174	D	.	.	0.332	0.55383	B	.	.	5.455724	0.91107	32	0.99931141536820711	0.99387	0.92859	0.56721	D	AEFDBI	0.736332	0.68187	D	0.612605194887195	0.73969	6.054057	0.593558986240236	0.74475	6.143627	0.999994435970487	0.74766	0.706548	0.73137	0	0.588015	0.36545	0	0.724815	0.87919	0	0.542086	0.14980	0	.	.	5.08	5.08	0.68373	2.949000	0.48766	4.001000	0.41074	0.595000	0.32841	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.1671:0.8329:0.0:0.0	12.499	0.55291	764	0.49969	.	.	.	.	.	.	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	1118.98	39	chr1	160419212	.	C	T	1118.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.423e+00;DP=816;ExcessHet=0.0000;FS=6.011;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.99;ReadPosRankSum=2.45;SOR=0.890	GT:AD:DP:GQ:PL	0/1:65,47:112:99:1133,0,1760	20	0	1	0
chr1	160882109	160882109	C	T	exonic	ITLN1	.	nonsynonymous SNV	ITLN1:NM_017625:exon4:c.G253A:p.V85M,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.971	D	0.001	N	0.993	D	2.92	M	-3.18	D	0.840	D	0.852	D	0.496	3.590	18.28	3.26	0.944	2.927	9.525	0.656	0.0367771275227	7.7e-05	0.000199681	3.311e-05	9.612e-05	0	0	0	3.005e-05	0	6.204e-05	3.23e-05	5	154602	rs147176765	3.078e-05	3.078e-05	3.267e-05	2.888e-05	0.0002	2.347e-05	2.095e-05	7.713e-05	5.305e-05	0.0002	0	0	2.519e-05	0	0	2.968e-05	4.968e-05	2.319e-05	5.253e-05	5.249e-05	3.854e-05	6.715e-05	9.624e-05	2.555e-05	1.829e-05	3.243e-05	1.91e-05	9.624e-05	0	0	0	0	0	0	5.88e-05	0	0	0.001	0.78490	D	0.001	0.83351	D	1.0	0.90584	D	0.971	0.72444	D	0.001283	0.39521	N	0.096927	0.992698	0.41717	D	3.565	0.93411	H	-3.18	0.93111	D	-2.9	0.60827	D	0.306	0.34552	0.840	0.94907	D	0.852	0.95066	D	10	0.6190612	0.67873	D	0.036777	0.57205	D	0.656	0.87085	.	.	0.96693425096	0.96657	0.5220585118584994	0.52128	0.543021954429	0.51389	0.594590723515	0.52142	T	0.494769	0.81777	T	0.00520552	0.52371	T	0.00636945	0.70748	D	0.941548347473145	0.61490	D	0.938006	0.76748	D	0.5080618	0.67566	0.26893297	0.52768	0.5080618	0.67567	0.26893297	0.52767	-10.454	0.76583	D	.	.	0.417	0.60506	A	.	.	3.357994	0.46347	22.3	0.99884973108170982	0.96049	0.74248	0.36319	D	AEFDBHI	0.529274	0.55045	D	0.465011541734742	0.65058	4.775155	0.313600221031989	0.56338	3.797019	0.777577761371551	0.23778	0.487112	0.14033	0	0.547309	0.14657	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	4.17	3.26	0.36471	2.242000	0.42756	-0.579000	0.08386	0.599000	0.40250	0.994000	0.38300	0.000000	0.08366	0.695000	0.33988	0.0:0.8947:0.0:0.1053	9.525	0.38325	779	0.47767	Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2278.98	40	chr1	160882109	.	C	T	2278.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.41;DP=2145;ExcessHet=0.0000;FS=0.572;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.85;MQRankSum=-1.009e+00;QD=13.73;ReadPosRankSum=2.62;SOR=0.603	GT:AD:DP:GQ:PL	0/1:83,83:166:99:2293,0,2175	20	0	1	0
chr1	160999083	160999083	C	T	exonic	F11R	.	nonsynonymous SNV	F11R:NM_001348091:exon8:c.G677A:p.S226N	.	.	428	1093	1	0	0	1	0.000457247	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.48	T	0.016	B	0.007	B	0.643	N	1.000	N	0	N	-1.65	D	-1.004	T	0.115	T	0.216	0.395	6.143	1.23	0.439	-0.077	4.470	0.208	0.0105157133251	0.0030	0.00219649	0.0008	0.0085	0.0003	0	0	2.999e-05	0	0	0.0007568	117	154602	rs145312674	0.0002	0.0002	0.0003	0.0002	0.0082	0.0002	0.0002	0.0074	0.0071	0.0082	0.0006	0	5.038e-05	0	0.0009	6.295e-06	0.0007	2.319e-05	0.0027	0.0027	0.0026	0.0029	0.0095	0.0025	0.0024	0.0087	0.0084	0.0095	0	0.0009	0	0	0	0.0034	1.47e-05	0.0024	0	0.735	0.07619	T	0.659	0.06533	T	0.004	0.12183	B	0.003	0.08700	B	0.643107	0.05879	N	1.183790	1	0.08975	N	1.155	0.29575	L	-1.65	0.82625	D	-0.27	0.15178	N	0.118	0.10769	-1.0038	0.28814	T	0.115	0.40897	T	10	0.0060163736	0.00135	T	0.010516	0.27152	T	0.208	0.49714	.	.	0.646026064043	0.64309	0.5225958851653266	0.52182	0.216351925438	0.24159	0.345127642155	0.17202	T	0.005515	0.33897	T	-0.422472	0.01650	T	-0.372095	0.36644	T	0.0013814213729192	0.00014	T	0.615039	0.23503	T	0.025929147	0.01587	0.034464434	0.02519	0.025929147	0.01586	0.034464434	0.02519	-5.094	0.39804	T	.	.	0.150	0.33133	B	.;.;.	.;.;.	0.668954	0.10374	7.100	0.91180470710222683	0.20435	0.04011	0.09439	N	AEFDGBI	0.057334	0.10672	N	-0.94138274125391	0.09887	0.4699816	-0.884479680841211	0.12461	0.6411166	0.933636174770498	0.27138	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	4.52	1.23	0.20358	0.022000	0.13402	-0.490000	0.08866	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.913000	0.44837	0.0:0.596:0.1801:0.2239	4.470	0.11126	549	0.72275	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	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	1051.98	33	chr1	160999083	.	C	T	1051.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.82;DP=793;ExcessHet=0.0000;FS=0.940;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.41;ReadPosRankSum=0.630;SOR=0.941	GT:AD:DP:GQ:PL	0/1:38,35:73:99:1066,0,1063	20	0	1	0
chr1	161048677	161048677	T	C	exonic	ARHGAP30	.	nonsynonymous SNV	ARHGAP30:NM_001287602:exon8:c.A1813G:p.K605E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.39	T	0.01	B	0.007	B	0.684	N	1.000	N	0.69	N	3.12	T	-1.013	T	0.021	T	0.141	0.698	7.727	3.48	1.732	0.199	8.591	0.058	0.00968596089578	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	0	6.568e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.021	0.49117	D	1.0	0.01155	T	0.01	0.15535	B	0.007	0.12992	B	0.683953	0.06107	N	1.182510	1	0.81001	D	0.895	0.22405	L	3.12	0.28836	T	0.2	0.05125	N	0.124	0.11626	-1.0128	0.26038	T	0.021	0.08778	T	10	0.043722987	0.03252	T	0.009686	0.25313	T	0.058	0.16647	0.091	0.01065	0.202312658747	0.19855	0.014156678512418705	0.01372	0.0360154973924	0.03802	0.275967478752	0.06937	T	0.009946	0.09021	T	-0.233146	0.16235	T	-0.572675	0.15206	T	0.0470577669313713	0.04976	T	0.765223	0.39255	T	0.11781541	0.27768	0.10422677	0.25027	0.11781541	0.27768	0.10422677	0.25027	-2.394	0.05096	T	.	.	0.082	0.26545	B	.;.	.;.	2.112512	0.26887	17.27	0.98187512282995548	0.39001	0.20001	0.20877	N	AEFDBCI	0.072340	0.14433	N	-0.661435640605215	0.17128	0.8787282	-0.569485133727487	0.20290	1.092522	0.99999956956163	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.590023	0.30420	0	0.567892	0.33627	0	.	.	4.63	3.48	0.38946	0.545000	0.22976	1.176000	0.24660	0.665000	0.62972	0.001000	0.13787	0.003000	0.18671	0.882000	0.42233	0.0:0.0965:0.0:0.9035	8.591	0.32847	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	0.02381	2155.98	71	chr1	161048677	.	T	C	2155.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.394e+00;DP=1463;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.99;ReadPosRankSum=1.08;SOR=0.740	GT:AD:DP:GQ:PL	0/1:80,86:166:99:2170,0,2052	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	0/1:136,43:187:99:340,0,3102	5	0	16	0
chr1	167697775	167697775	A	G	exonic	RCSD1	.	nonsynonymous SNV	RCSD1:NM_001322924:exon4:c.A989G:p.Q330R	.	.	413	1108	1	0	0	1	0.00045106	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.43	T	0.0	B	0.0	B	0.007	N	0.938	N	0	N	1.02	T	-1.070	T	0.015	T	0.049	-0.239	2.846	-5.09	-0.866	-0.682	3.797	0.014	.	0.0033	0.00419329	0.0028	0.0176	0.0023	0	0	0	0	0	0.0008861	137	154602	rs34699420	0.0004	0.0004	0.0004	0.0003	0.0135	0.0003	0.0003	0.0124	0.0120	0.0135	0.0009	0	0	0	0.0006	9.425e-06	0.0009	0.0001	0.0037	0.0038	0.0035	0.0040	0.0130	0.0035	0.0034	0.0121	0.0117	0.0130	0	0.0016	0	0	0	0	0	0.0019	0.0002	0.419	0.09866	T	0.479	0.11933	T	0.0	0.02946	B	0.0	0.01387	B	0.007189	0.01158	N	2.746180	1	0.08975	N	0.755	0.19153	N	1.02	0.40749	T	-0.34	0.12661	N	0.081	0.05670	-1.0699	0.09436	T	0.015	0.06234	T	9	0.002888292	0.00046	T	.	.	.	0.014	0.01968	.	.	0.192905019026	0.18896	0.02229516708575138	0.02181	0.0312905223843	0.03243	0.219301402569	0.01270	T	0.003934	0.03343	T	-0.685133	0.00045	T	-0.745891	0.03649	T	0.00246245432486396	0.00026	T	0.39586	0.09952	T	0.028802121	0.02273	0.027511766	0.00910	0.028802121	0.02272	0.027511766	0.00910	-4.52	0.31149	T	.	.	0.080	0.07745	B	.;.	.;.	-0.594454	0.01588	0.107	0.22913236797363923	0.00944	0.00064	0.00463	N	AEFDGBI	0.024466	0.01520	N	-1.56508932039582	0.01448	0.06319435	-1.62303561979087	0.01521	0.06888175	0.999994273677853	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.602189	0.34648	0	0.542086	0.14980	0	.	.	4.0	-5.09	0.02699	-0.815000	0.04588	-0.108000	0.11862	-0.274000	0.06627	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.4163:0.0:0.3196:0.2641	3.797	0.08262	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	1027.98	33	chr1	167697775	.	A	G	1027.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.177e+00;DP=809;ExcessHet=0.0000;FS=6.365;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.08;ReadPosRankSum=0.332;SOR=0.314	GT:AD:DP:GQ:PL	0/1:55,47:102:99:1042,0,1627	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	0/1:37,24,0:61:99:.:.:733,0,924,832,996,1829	2	5	6	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	0/1:99,36:140:99:250,0,1926	5	0	5	11
chr1	182585533	182585533	C	A	exonic	RNASEL	.	nonsynonymous SNV	RNASEL:NM_021133:exon2:c.G1274T:p.S425I,	Prostate cancer 1, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.21	T	0.028	B	0.066	B	0.639	N	1.000	N	1.61	L	-0.17	T	-0.971	T	0.162	T	0.112	3.160	16.57	-2.26	-0.349	-0.818	1.143	0.093	0.0307130700267	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.125	0.27310	T	0.121	0.35840	T	0.028	0.19712	B	0.066	0.27432	B	0.639273	0.05858	N	1.160480	1	0.08975	N	1.605	0.40863	L	-0.17	0.65563	T	-1.32	0.36385	N	0.089	0.08088	-0.9712	0.36946	T	0.162	0.49698	T	10	0.12136254	0.23004	T	0.030713	0.52967	D	0.093	0.26882	0.557	0.67547	0.802560637798	0.80071	0.1526574392105914	0.15187	0.0766186226647	0.08601	0.341486424208	0.16661	T	0.061751	0.31736	T	-0.204628	0.20142	T	-0.53171	0.19115	T	0.0848256388155286	0.10592	T	0.569643	0.20265	T	0.1419012	0.32677	0.088096745	0.20519	0.1419012	0.32677	0.088096745	0.20518	-3.742	0.19940	T	0.17941074174384158	0.23040	0.095	0.18456	B	.;.	.;.	0.603115	0.09717	6.485	0.96456371368675864	0.29883	0.06624	0.12640	N	AEFDBCI	0.054606	0.09943	N	-0.804571757413898	0.13193	0.6482315	-0.834740403893782	0.13654	0.7095247	0.999998121386011	0.74766	0.651	0.46895	0	0.708844	0.79440	0	0.602189	0.34648	0	0.567892	0.33627	0	.	.	5.95	-2.26	0.06478	-0.790000	0.04709	-4.713000	0.02020	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.995000	0.73285	0.2196:0.2972:0.1078:0.3754	1.143	0.01660	815	0.41851	Protein kinase domain|Protein kinase domain|Protein kinase 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	1549.98	36	chr1	182585533	.	C	A	1549.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.659e+00;DP=925;ExcessHet=0.0000;FS=7.276;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.60;ReadPosRankSum=-2.580e-01;SOR=0.440	GT:AD:DP:GQ:PL	0/1:60,54:114:99:1564,0,1739	20	0	1	0
chr1	200575631	200575631	C	T	exonic	KIF14	.	nonsynonymous SNV	KIF14:NM_001305792:exon20:c.G2053A:p.D685N	.	.	.	.	.	.	.	.	.	.	.	2763334	Inborn_genetic_diseases	MeSH:D030342,MedGen:C0950123	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.05	D	1.0	D	0.999	D	0.000	D	1.000	D	2.215	M	2.26	T	-0.958	T	0.123	T	0.132	4.473	23.9	4.69	2.267	5.912	17.970	0.263	0.0350281454125	.	.	8.24e-06	0	0	0	0	1.499e-05	0	0	6.5e-06	1	154602	rs762016099	1.321e-05	1.779e-05	8.3e-06	1.817e-05	4.869e-05	8.45e-06	6.81e-06	1.636e-05	9.66e-06	0	0	0	2.534e-05	0	0	1.276e-05	0	4.869e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.65419	D	0.009	0.66756	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	0.99996	0.52935	D	2.985	0.85602	M	2.26	0.17596	T	-3.91	0.73042	D	0.611	0.62781	-0.9584	0.39479	T	0.123	0.42568	T	10	0.47496396	0.60088	T	0.035028	0.56072	D	0.263	0.57612	0.158	0.06178	0.410734915765	0.40690	0.5114942968775584	0.51071	0.451558173048	0.44902	0.530832529068	0.43152	T	0.248248	0.61802	T	-0.226495	0.17115	T	-0.499475	0.22403	T	0.948560861500375	0.62923	D	0.884312	0.60710	D	0.5104812	0.67707	0.3630501	0.61699	0.5104812	0.67708	0.3630501	0.61698	-4.876	0.35464	T	.	.	0.315	0.59981	B	.;.	.;.	5.123500	0.85707	28.7	0.99916667593800679	0.98449	0.96226	0.68115	D	AEFDBI	0.702066	0.65856	D	0.670347448717616	0.77691	6.723575	0.608922915630095	0.75589	6.336938	0.998702287275148	0.37498	0.706298	0.61202	0	0.708844	0.79440	0	0.709663	0.75317	0	0.683762	0.67416	0	.	.	4.69	4.69	0.58546	6.021000	0.70485	7.561000	0.60481	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.969000	0.54022	0.0:1.0:0.0:0.0	17.970	0.89029	572	0.70300	.;.	.	.	.	.	.	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	600.98	33	chr1	200575631	.	C	T	600.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.15;DP=721;ExcessHet=0.0000;FS=1.154;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.36;ReadPosRankSum=0.609;SOR=0.769	GT:AD:DP:GQ:PL	0/1:19,26:45:99:615,0,358	20	0	1	0
chr1	204444146	204444146	C	T	exonic	PIK3C2B	.	nonsynonymous SNV	PIK3C2B:NM_001377334:exon18:c.G2789A:p.C930Y	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.75	T	0.999	D	0.985	D	0.000	D	0.998	D	1.7	L	0.01	T	-0.652	T	0.334	T	0.955	4.229	22.0	5.98	2.837	2.643	14.830	0.336	0.0395205411741	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.846e-07	1.368e-06	1.362e-06	0	9.001e-07	0	0	.	.	0	0	0	0	0	0	9.001e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.005	0.63226	D	0.051	0.49390	T	0.999	0.77913	D	0.985	0.76457	D	0.000000	0.84330	D	0.000000	0.997849	0.44246	D	2.33	0.66821	M	0.01	0.62459	T	-4.37	0.77061	D	0.851	0.84817	-0.6521	0.62622	T	0.334	0.70101	T	10	0.7551726	0.75928	D	0.039521	0.58854	D	0.336	0.65816	0.312	0.28612	0.731197027204	0.72880	0.44362017305618334	0.44280	1.35405607476	0.84143	0.879551887512	0.93900	D	0.617515	0.87964	D	0.289904	0.82147	D	0.17865	0.81918	D	0.956505954265594	0.64774	D	0.920508	0.71260	D	0.453303	0.64250	0.49103993	0.70556	0.453303	0.64251	0.49103993	0.70557	-10.862	0.78895	D	.	.	0.601	0.79505	P	.;.	.;.	4.755519	0.76829	26.6	0.9976745670120315	0.85583	0.90357	0.51468	D	ALL	0.660412	0.63099	D	0.458512160282776	0.64688	4.728999	0.511871425671665	0.68789	5.26863	1.0	0.98316	0.706548	0.73137	0	0.724815	0.89359	0	0.608884	0.39905	0	0.674467	0.66132	0	.	.	5.98	5.98	0.97147	2.703000	0.46778	7.616000	0.62106	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.967000	0.53440	0.144:0.856:0.0:0.0	14.830	0.69772	648	0.63242	Phosphoinositide 3-kinase, accessory (PIK) domain|Phosphoinositide 3-kinase, accessory (PIK) domain|Phosphoinositide 3-kinase, accessory (PIK) domain;Phosphoinositide 3-kinase, accessory (PIK) domain|Phosphoinositide 3-kinase, accessory (PIK) domain|Phosphoinositide 3-kinase, accessory (PIK) domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.2619	2825.06	151	chr1	204444146	.	C	T	2825.06	.	AC=11;AF=0.262;AN=42;BaseQRankSum=-4.450e+00;DP=2570;ExcessHet=7.7275;FS=223.489;InbreedingCoeff=-0.3719;MLEAC=11;MLEAF=0.262;MQ=60.00;MQRankSum=0.00;QD=1.73;ReadPosRankSum=1.35;SOR=12.327	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:105,22:133:90:.:.:90,0,2530	10	0	11	0
chr1	204457055	204457055	C	A	exonic	PIK3C2B	.	nonsynonymous SNV	PIK3C2B:NM_001377334:exon10:c.G1729T:p.A577S	.	.	428	1076	17	1	0	19	0.00875173	.	.	2815974	PIK3C2B-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	1	T	0.013	B	0.022	B	0.554	N	0.992	N	0.365	N	0.9	T	-1.044	T	0.044	T	0.12	0.457	6.483	3.44	1.219	2.662	8.704	0.092	.	0.0058	0.00339457	0.0104	0.0006	0.0114	0	0.0184	0.0192	0	0.0024	0.005401	835	154602	rs61762602	0.0073	0.0074	0.0075	0.0071	0.0082	0.0072	0.0072	0.0080	0.0080	0.0009	0.0044	0.0071	0	0.0088	0.0079	0.0082	0.0075	0.0022	0.0058	0.0058	0.0059	0.0058	0.0082	0.0055	0.0054	0.0077	0.0074	0.0013	0.0022	0.0078	0.0107	0	0.0079	0.0102	0.0082	0.0066	0.0033	0.759	0.03492	T	1.0	0.02555	T	0.0	0.16609	B	0.001	0.19653	B	0.553917	0.05385	N	1.242290	0.991997	0.23951	N	1.59	0.40313	L	0.9	0.45248	T	0.41	0.03407	N	0.326	0.36674	-1.0443	0.16030	T	0.044	0.18742	T	10	0.0054474175	0.00120	T	.	.	.	0.092	0.26621	.	.	0.331200485591	0.32731	0.2228740159941752	0.22202	0.313180073728	0.33613	0.499567329884	0.38767	T	0.031403	0.22025	T	-0.577101	0.00201	T	-0.592347	0.13463	T	0.00633779952525549	0.00070	T	0.532447	0.21082	T	0.03837733	0.05102	0.03928205	0.03985	0.03837733	0.05102	0.03928205	0.03984	-3.375	0.14722	T	.	.	0.088	0.12276	B	.;.	.;.	2.899083	0.38415	20.7	0.72102997173930505	0.09857	0.96027	0.67203	D	AEFDBIJ	0.368507	0.45558	N	-0.443746811418011	0.23953	1.289933	-0.229332177330784	0.30489	1.717187	0.999943843182665	0.47345	0.643511	0.44296	0	0.653731	0.59785	0	0.688494	0.62686	0	0.635551	0.53088	0	.	.	5.33	3.44	0.38486	2.581000	0.45742	2.190000	0.31200	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.958000	0.51230	0.0:0.8218:0.0:0.1782	8.704	0.33504	629	0.65079	.;.	.	.	.	.	rs61762602	Uncertain significance	0	0	0	0	0	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	1649.98	42	chr1	204457055	.	C	A	1649.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.646;DP=1007;ExcessHet=0.0000;FS=1.384;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.50;ReadPosRankSum=-1.520e+00;SOR=0.886	GT:AD:DP:GQ:PL	0/1:66,66:132:99:1664,0,1585	20	0	1	0
chr1	204618005	204618005	C	T	exonic	LRRN2	.	nonsynonymous SNV	LRRN2:NM_201630:exon2:c.G1988A:p.R663Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.63	T	0.001	B	0.001	B	.	.	1.000	N	0	N	0.3	T	-1.023	T	0.073	T	0.128	0.987	9.030	-0.344	0.277	0.246	6.338	0.014	0.0159225203713	.	.	4.172e-05	0	0	0	0	7.591e-05	0	0	3.23e-05	5	154602	rs778385692	4.862e-05	4.857e-05	4.632e-05	5.093e-05	0.0001	3.93e-05	3.608e-05	5.851e-05	3.759e-05	0.0001	0	0.0003	0	0	0	4.499e-05	1.657e-05	8.129e-05	7.892e-05	7.882e-05	6.428e-05	9.425e-05	0.0002	4.5e-05	3.515e-05	1.972e-05	1.125e-05	7.247e-05	0	0	0.0012	0.0002	0	0	5.881e-05	0	0	0.362	0.11844	T	0.512	0.10750	T	0.001	0.07471	B	0.001	0.04355	B	.	.	.	.	1	0.08975	N	0	0.06538	N	0.3	0.58755	T	-0.09	0.08340	N	0.04	0.01825	-1.0233	0.22638	T	0.073	0.29610	T	9	0.029547602	0.01081	T	0.015923	0.36914	T	0.014	0.01968	.	.	0.490144168196	0.48647	0.26646037289813046	0.26559	0.507287636852	0.48913	0.446142435074	0.31417	T	0.006457	0.05891	T	-0.452212	0.01096	T	-0.607912	0.12154	T	0.0223376497231902	0.00946	T	0.532847	0.17735	T	0.037211783	0.04726	0.043417882	0.05397	0.037211783	0.04726	0.043417882	0.05397	-4.569	0.31779	T	.	.	0.081	0.08176	B	.;.;.	.;.;.	1.322621	0.17269	13.06	0.95629212165987332	0.27408	0.03996	0.09418	N	AEFDBI	0.084239	0.17070	N	-1.14705616449299	0.05828	0.2667228	-1.06527757100656	0.08392	0.4123965	0.951276930038203	0.27947	0.57788	0.32782	0	0.59043	0.45803	0	0.608075	0.38828	0	0.542086	0.14980	0	.	.	5.47	-0.344	0.12001	0.374000	0.20232	0.433000	0.18345	0.599000	0.40250	0.002000	0.15269	0.182000	0.23429	0.222000	0.22517	0.0:0.5393:0.1281:0.3326	6.338	0.20511	766	0.49742	.;.;.	.	.	.	.	.	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	1114.98	58	chr1	204618005	.	C	T	1114.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.75;DP=1029;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.48;ReadPosRankSum=-3.310e-01;SOR=0.641	GT:AD:DP:GQ:PL	0/1:38,39:77:99:1129,0,929	20	0	1	0
chr1	206508042	206508042	A	C	exonic	RASSF5	.	nonsynonymous SNV	RASSF5:NM_182663:exon1:c.A440C:p.Q147P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	0.699	P	0.511	P	0.670	U	1.000	D	1.87	L	-3.38	D	0.155	D	0.728	D	0.493	1.417	10.68	-0.201	0.076	0.112	3.231	0.541	0.752188841457	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.929e-07	1.368e-06	0	1.624e-06	.	0	0	.	.	0	0	0	0	0	0	0	1.944e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.034	0.64786	D	0.269	0.37313	B	0.511	0.47948	P	0.670418	0.10347	U	0.817593	0.971895	0.25629	N	2.8	0.81625	M	-3.38	0.94161	D	.	.	.	0.25	0.31925	0.155	0.85140	D	0.728	0.90705	D	10	0.37317842	0.53632	T	0.752189	0.98025	D	.	.	0.621	0.75576	0.889688261097	0.88860	0.827549728375985	0.82712	.	.	0.718355178833	0.69806	T	0.688358	0.90915	D	0.148489	0.69127	D	-0.0244823	0.68734	D	0.339617788791656	0.26609	T	0.650435	0.26315	T	0.19907956	0.41834	0.2580276	0.51529	0.19907956	0.41834	0.2580276	0.51528	-4.019	0.24087	T	.	.	0.074	0.12607	B	.;.;.	.;.;.	2.731929	0.35759	19.98	0.93156421640526876	0.22806	0.28008	0.23436	N	AEFDBCIJ	0.107036	0.21338	N	-0.278517039572624	0.29978	1.667418	-0.312930943217013	0.27681	1.537716	0.999940843987765	0.47345	0.443343	0.08805	1	0.552344	0.17405	0	0.666236	0.60216	0	0.554799	0.18163	0	.	.	3.61	-0.201	0.12563	0.119000	0.15456	-0.075000	0.12249	0.410000	0.20643	0.996000	0.39380	0.016000	0.20520	0.863000	0.40966	0.4108:0.2331:0.3561:0.0	3.231	0.06348	906	0.23090	Protein kinase C-like, phorbol ester/diacylglycerol-binding domain|Protein kinase C-like, phorbol ester/diacylglycerol-binding domain|Protein kinase C-like, phorbol ester/diacylglycerol-binding domain|Protein kinase C-like, phorbol ester/diacylglycerol-binding domain|Protein kinase C-like, phorbol ester/diacylglycerol-binding domain;.;Protein kinase C-like, phorbol ester/diacylglycerol-binding domain|Protein kinase C-like, phorbol ester/diacylglycerol-binding domain|Protein kinase C-like, phorbol ester/diacylglycerol-binding domain|Protein kinase C-like, phorbol ester/diacylglycerol-binding domain|Protein kinase C-like, phorbol ester/diacylglycerol-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	0.02381	512.98	36	chr1	206508042	.	A	C	512.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.547e+00;DP=747;ExcessHet=0.0000;FS=2.729;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.21;ReadPosRankSum=0.416;SOR=1.329	GT:AD:DP:GQ:PL	0/1:20,22:42:99:527,0,546	20	0	1	0
chr1	206508051	206508051	-	CTGCA	exonic	RASSF5	.	frameshift insertion	RASSF5:NM_182663:exon1:c.449_450insCTGCA:p.N153Afs*15	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.004e-07	6.84e-07	0	1.643e-06	.	0	0	.	.	0	0	0	0	0	0	0	1.959e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	666.94	36	chr1	206508051	.	G	GCTGCA	666.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.407;DP=749;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=18.53;ReadPosRankSum=0.665;SOR=0.693	GT:AD:DP:GQ:PL	0/1:18,18:36:99:681,0,677	20	0	1	0
chr1	214645259	214645259	T	C	exonic	CENPF	.	nonsynonymous SNV	CENPF:NM_016343:exon13:c.T5689C:p.F1897L,	Stromme syndrome, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.81	T	0.012	B	0.006	B	0.387	N	0.996	N	0.9	L	1.98	T	-0.979	T	0.033	T	0.095	1.289	10.22	4.32	0.912	3.074	9.207	0.078	0.00980712402638	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.293	0.14843	T	0.433	0.13595	T	.	.	.	.	.	.	0.387254	0.13306	N	0.622917	0.996025	0.23136	N	.	.	.	1.98	0.21865	T	-1.74	0.41239	N	0.163	0.17140	-0.9785	0.35345	T	0.033	0.14203	T	10	0.07286334	0.10934	T	0.009807	0.25586	T	0.078	0.22779	.	.	0.101711395817	0.09552	0.1427222850839343	0.14195	0.0596198842535	0.06628	0.393260717392	0.24128	T	.	.	.	-0.260978	0.12786	T	-0.612653	0.11770	T	0.274424522710853	0.23935	T	0.527047	0.17380	T	0.08159175	0.18754	0.074692726	0.16368	0.08159175	0.18754	0.074692726	0.16367	-2.043	0.03347	T	.	.	0.785	0.76596	P	.	.	1.885814	0.23953	16.21	0.97445370788974561	0.34002	0.87114	0.46557	D	AEFBCI	0.219672	0.34452	N	-0.641218653764995	0.17716	0.9139967	-0.539133036135939	0.21094	1.139528	0.992379880728038	0.32817	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.45	4.32	0.50899	3.081000	0.49818	1.110000	0.24149	0.644000	0.52426	1.000000	0.71638	0.016000	0.20520	0.957000	0.51019	0.0:0.1458:0.0:0.8542	9.207	0.36459	901	0.24189	.	.	.	.	.	.	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	0.1905	842.74	162	chr1	214645259	.	T	C	842.74	.	AC=8;AF=0.190;AN=42;BaseQRankSum=-4.014e+00;DP=2279;ExcessHet=3.5521;FS=127.609;InbreedingCoeff=-0.2304;MLEAC=8;MLEAF=0.190;MQ=60.00;MQRankSum=0.00;QD=0.63;ReadPosRankSum=1.21;SOR=11.454	GT:AD:DP:GQ:PL	0/1:131,28:159:99:106,0,2771	13	0	8	0
chr1	220154029	220154029	G	C	exonic	RAB3GAP2	.	nonsynonymous SNV	RAB3GAP2:NM_012414:exon32:c.C3584G:p.T1195S,	Martsolf syndrome, Autosomal recessive;Warburg micro syndrome 2, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.31	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	0/1:49,27:81:55:55,0,606	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	0/2:8,0,4:12:99:143,168,483,0,315,303	8	0	12	0
chr1	225353860	225353860	A	G	exonic	DNAH14	.	nonsynonymous SNV	DNAH14:NM_001367479:exon73:c.A11591G:p.K3864R,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	T	0.112	B	0.061	B	.	.	1.000	D	.	.	3.13	T	-0.960	T	0.017	T	0.139	2.173	13.22	4.96	1.975	1.458	12.415	0.042	0.0424221383888	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0003	0.0016	0.0003	0.0002	0.0004	0.0002	0.0002	0.0002	0.0002	0.0003	6.329e-05	0	0.0004	0.0005	0	0.0003	0.0002	6.899e-05	0	2.638e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.304	0.14303	T	0.086	0.40909	T	0.112	0.26290	B	0.061	0.26820	B	.	.	.	.	1	0.81001	D	.	.	.	3.13	0.08014	T	-1.32	0.32991	N	0.141	0.17140	-0.9601	0.39162	T	0.017	0.06759	T	8	0.075534165	0.11687	T	0.042422	0.60457	D	0.042	0.11227	0.473	0.54859	0.233150807113	0.22925	.	.	.	.	0.547701478004	0.45533	T	.	.	.	-0.290318	0.09604	T	-0.654798	0.08622	T	0.429603158532435	0.30046	T	0.441056	0.12198	T	.	.	.	.	.	.	.	.	-5.073	0.37622	T	.	.	.	.	.	.;.	.;.	2.621798	0.34075	19.52	0.98831738548241499	0.46969	0.78159	0.38520	D	AEFI	0.292450	0.40332	N	-0.1412954714505	0.35606	2.047334	0.0119223341972131	0.40267	2.400417	0.496201815749716	0.20905	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	4.96	4.96	0.65153	1.434000	0.34567	3.589000	0.39183	0.709000	0.85303	0.997000	0.40164	0.992000	0.31684	0.992000	0.67800	1.0:0.0:0.0:0.0	12.415	0.54820	620	0.66037	.;.	.	.	.	.	.	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	0.1842	916.48	81	chr1	225353860	.	AAC	GAC,A,*	916.48	.	AC=5,1,1;AF=0.132,0.026,0.026;AN=38;BaseQRankSum=-2.713e+00;DP=1152;ExcessHet=2.7391;FS=184.885;InbreedingCoeff=-0.1515;MLEAC=5,1,1;MLEAF=0.132,0.026,0.026;MQ=60.00;MQRankSum=0.00;QD=1.78;ReadPosRankSum=1.93;SOR=9.327	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:57,7,0,0:64:3:0|1:225353860_A_G:3,0,2104,174,2125,2299,174,2125,2299,2299:225353860	12	0	5	2
chr1	225353861	225353862	AC	-	exonic	DNAH14	.	frameshift deletion	DNAH14:NM_001367479:exon73:c.11592_11593del:p.K3864Nfs*14,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1842	916.48	81	chr1	225353860	.	AAC	GAC,A,*	916.48	.	AC=5,1,1;AF=0.132,0.026,0.026;AN=38;BaseQRankSum=-2.713e+00;DP=1152;ExcessHet=2.7391;FS=184.885;InbreedingCoeff=-0.1515;MLEAC=5,1,1;MLEAF=0.132,0.026,0.026;MQ=60.00;MQRankSum=0.00;QD=1.78;ReadPosRankSum=1.93;SOR=9.327	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:57,7,0,0:64:3:0|1:225353860_A_G:3,0,2104,174,2125,2299,174,2125,2299,2299:225353860	12	0	5	2
chr1	225353860	225353862	AAC	0	exonic	DNAH14	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1842	916.48	81	chr1	225353860	.	AAC	GAC,A,*	916.48	.	AC=5,1,1;AF=0.132,0.026,0.026;AN=38;BaseQRankSum=-2.713e+00;DP=1152;ExcessHet=2.7391;FS=184.885;InbreedingCoeff=-0.1515;MLEAC=5,1,1;MLEAF=0.132,0.026,0.026;MQ=60.00;MQRankSum=0.00;QD=1.78;ReadPosRankSum=1.93;SOR=9.327	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:57,7,0,0:64:3:0|1:225353860_A_G:3,0,2104,174,2125,2299,174,2125,2299,2299:225353860	12	0	5	2
chr1	225353861	225353861	A	0	exonic	DNAH14	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2059	464.81	81	chr1	225353861	.	A	G,*	464.81	.	AC=5,2;AF=0.147,0.059;AN=34;BaseQRankSum=-1.464e+00;DP=1141;ExcessHet=2.7391;FS=185.320;InbreedingCoeff=-0.2299;MLEAC=5,2;MLEAF=0.147,0.059;MQ=60.00;MQRankSum=0.00;QD=0.87;ReadPosRankSum=1.83;SOR=9.781	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:57,7,0:64:3:0|1:225353860_A_G:3,0,2104,174,2125,2299:225353860	10	0	5	4
chr1	227767030	227767030	C	A	exonic	SNAP47	.	nonsynonymous SNV	SNAP47:NM_001323930:exon4:c.C1060A:p.L354M	.	.	421	1100	1	0	0	1	0.000454339	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06	T	0.999	D	0.982	D	0.006	N	0.734	D	2.43	M	1.92	T	-0.560	T	0.218	T	0.244	1.878	12.24	2.75	1.251	0.693	5.149	0.080	0.0125153735141	.	.	4.153e-05	0	0	0	0	7.556e-05	0	0	3.23e-05	5	154602	rs773745138	1.916e-05	1.915e-05	2.042e-05	1.788e-05	4.637e-05	1.328e-05	1.144e-05	1.583e-05	9.3e-06	0	0	0	0	0.0002	0	8.993e-06	8.279e-05	4.637e-05	1.97e-05	1.97e-05	1.284e-05	2.689e-05	2.94e-05	5.24e-06	2.45e-06	4.88e-06	1.83e-06	0	0	0	0	0	9.409e-05	0	2.94e-05	0	0	0.023	0.53900	D	0.044	0.50226	D	0.971	0.57185	D	0.839	0.60107	P	0.005952	0.32383	N	0.255216	0.624873	0.33754	D	2.645	0.77386	M	0.62	0.53302	T	-0.83	0.25551	N	0.266	0.33360	-0.5600	0.66404	T	0.218	0.58085	T	10	0.16574994	0.30972	T	0.012515	0.31146	T	0.080	0.23350	0.198	0.11110	0.702066023234	0.69948	0.2166993320194481	0.21585	0.311074138913	0.33413	0.458950817585	0.33167	T	0.037401	0.33658	T	-0.180805	0.23616	T	-0.389834	0.34572	T	0.418459946669093	0.29633	T	0.417958	0.11459	T	0.058154482	0.11664	0.06304279	0.12427	0.058154482	0.11664	0.06304279	0.12427	-4.504	0.30941	T	.	.	0.104	0.28464	B	.;.;.;.;.	.;.;.;.;.	2.875424	0.38031	20.6	0.99406519009104177	0.63075	0.62921	0.31929	D	AEFGBCI	0.136703	0.25746	N	0.0175349867111972	0.42652	2.574004	-0.0334571106993517	0.38214	2.248244	0.999999547285523	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.82	2.75	0.31439	0.913000	0.28233	.	.	0.599000	0.40250	1.000000	0.71638	0.996000	0.32793	0.094000	0.17991	0.0:0.6679:0.2156:0.1164	5.149	0.14329	711	0.56613	.;.;.;.;.	.	.	.	.	.	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	1748.98	36	chr1	227767030	.	C	A	1748.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.164;DP=880;ExcessHet=0.0000;FS=1.356;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.67;ReadPosRankSum=2.49;SOR=0.848	GT:AD:DP:GQ:PL	0/1:73,65:138:99:1763,0,1907	20	0	1	0
chr1	234373803	234373803	G	-	exonic	COA6	.	frameshift deletion	COA6:NM_001012985:exon1:c.85delG:p.D29Ifs*17,	Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 4, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2538.94	36	chr1	234373802	.	TG	T	2538.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.583e+00;DP=973;ExcessHet=0.0000;FS=3.549;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.20;ReadPosRankSum=-1.580e+00;SOR=0.483	GT:AD:DP:GQ:PL	0/1:91,76:167:99:2553,0,3151	20	0	1	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	0/2:65,0,55:120:99:.:.:2083,2278,4971,0,2693,2517	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	0/2:65,0,55:120:99:.:.:2083,2278,4971,0,2693,2517	10	1	8	0
chr1	240207775	240207775	C	0	exonic	FMN2	.	.	.	Mental retardation, autosomal recessive 47, Autosomal recessive	.	746	721	41	8	6	63	0.0380254	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2143	5665.43	76	chr1	240207775	.	C	T,*	5665.43	.	AC=5,1;AF=0.179,0.036;AN=28;BaseQRankSum=0.155;DP=1288;ExcessHet=0.1504;FS=0.973;InbreedingCoeff=0.0933;MLEAC=6,1;MLEAF=0.214,0.036;MQ=55.45;MQRankSum=2.61;QD=21.46;ReadPosRankSum=0.00;SOR=0.766	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:49,17,0:66:99:0|1:240207775_C_T:527,0,1917,675,1968,2642:240207775	9	1	3	7
chr1	240207785	240207785	A	0	exonic	FMN2	.	.	.	Mental retardation, autosomal recessive 47, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	6200.34	61	chr1	240207785	.	A	T,*	6200.34	.	AC=6,1;AF=0.214,0.036;AN=28;BaseQRankSum=0.505;DP=1124;ExcessHet=0.3860;FS=0.432;InbreedingCoeff=0.0463;MLEAC=8,1;MLEAF=0.286,0.036;MQ=54.15;MQRankSum=1.73;QD=18.13;ReadPosRankSum=0.388;SOR=0.732	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:47,15,0:62:99:0|1:240207775_C_T:456,0,1872,597,1917,2514:240207775	8	1	4	7
chr1	240207797	240207797	G	0	exonic	FMN2	.	.	.	Mental retardation, autosomal recessive 47, Autosomal recessive	.	935	562	18	1	6	26	0.0174825	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	373.12	58	chr1	240207797	.	G	A,*	373.12	.	AC=1,1;AF=0.036,0.036;AN=28;BaseQRankSum=2.67;DP=943;ExcessHet=0.1259;FS=0.000;InbreedingCoeff=0.1393;MLEAC=1,1;MLEAF=0.036,0.036;MQ=53.04;MQRankSum=1.59;QD=4.10;ReadPosRankSum=-2.966e+00;SOR=0.682	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:43,13,0:56:99:0|1:240207775_C_T:384,0,1733,513,1772,2285:240207775	12	0	1	7
chr1	240207800	240207800	C	0	exonic	FMN2	.	.	.	Mental retardation, autosomal recessive 47, Autosomal recessive	.	888	615	12	1	6	20	0.011254	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	324.09	54	chr1	240207800	.	C	A,*	324.09	.	AC=1,1;AF=0.036,0.036;AN=28;BaseQRankSum=1.77;DP=934;ExcessHet=0.1259;FS=0.958;InbreedingCoeff=0.1417;MLEAC=1,1;MLEAF=0.036,0.036;MQ=53.53;MQRankSum=1.59;QD=3.77;ReadPosRankSum=-2.572e+00;SOR=0.920	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:40,11,0:51:99:0|1:240207775_C_T:335,0,1639,455,1672,2127:240207775	12	0	1	7
chr1	240207806	240207806	C	0	exonic	FMN2	.	.	.	Mental retardation, autosomal recessive 47, Autosomal recessive	.	1124	331	37	24	6	91	0.113788	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3929	6284.06	46	chr1	240207806	.	C	T,*	6284.06	.	AC=10,1;AF=0.357,0.036;AN=28;BaseQRankSum=0.800;DP=850;ExcessHet=4.1217;FS=8.259;InbreedingCoeff=-0.1533;MLEAC=13,1;MLEAF=0.464,0.036;MQ=50.66;MQRankSum=0.217;QD=15.95;ReadPosRankSum=0.00;SOR=1.051	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:12,33,0:45:99:0|1:240207775_C_T:920,0,150,955,247,1202:240207775	4	1	8	7
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|2:37,0,7,0:44:99:0|1:240207775_C_T:183,294,1847,0,1553,1532,294,1847,1553,1847:240207775	6	1	7	3
chr1	240207818	240207818	A	0	exonic	FMN2	.	.	.	Mental retardation, autosomal recessive 47, Autosomal recessive	.	1172	344	5	0	1	6	0.00721501	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2333	2505.01	36	chr1	240207818	.	A	T,*	2505.01	.	AC=6,1;AF=0.200,0.033;AN=30;BaseQRankSum=1.26;DP=723;ExcessHet=0.3441;FS=4.214;InbreedingCoeff=0.0526;MLEAC=6,1;MLEAF=0.200,0.033;MQ=49.66;MQRankSum=1.36;QD=13.05;ReadPosRankSum=0.284;SOR=1.012	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:37,3,0:40:15:0|1:240207775_C_T:15,0,1504,126,1513,1639:240207775	9	1	4	6
chr1	240207821	240207821	T	0	exonic	FMN2	.	.	.	Mental retardation, autosomal recessive 47, Autosomal recessive	.	1088	429	4	0	1	5	0.00464037	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.125	1923.71	37	chr1	240207821	.	T	A,*	1923.71	.	AC=3,1;AF=0.094,0.031;AN=32;BaseQRankSum=-2.530e-01;DP=762;ExcessHet=0.7564;FS=4.519;InbreedingCoeff=-0.1829;MLEAC=4,1;MLEAF=0.125,0.031;MQ=50.40;MQRankSum=2.47;QD=11.38;ReadPosRankSum=-2.080e-01;SOR=1.065	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:33,15,0:48:48:0|1:240207775_C_T:48,0,1284,146,1308,1454:240207775	12	0	3	5
chr1	243330649	243330649	T	C	exonic	SDCCAG8	.	nonsynonymous SNV	SDCCAG8:NM_001350249:exon10:c.T884C:p.M295T	Bardet-Biedl syndrome 16, Autosomal recessive;Senior-Loken syndrome 7	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.69	T	0.288	B	0.157	B	0.015	N	1.000	N	1.59	L	0.96	T	-1.004	T	0.097	T	0.474	1.753	11.82	5.78	2.206	4.328	12.493	0.074	0.0097323393981	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.848e-07	6.841e-07	1.363e-06	0	9.004e-07	0	0	.	.	0	0	0	0	0	0	9.004e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.338	0.25768	T	0.033	0.53072	D	0.288	0.32258	B	0.142	0.33681	B	0.014502	0.28512	N	0.453510	0.991261	0.24058	N	2.35	0.67516	M	0.96	0.42888	T	-1.36	0.39119	N	0.326	0.36674	-1.0039	0.28785	T	0.097	0.36393	T	10	0.17887664	0.32995	T	0.009732	0.25404	T	0.074	0.21613	0.189	0.09907	0.483448007585	0.47975	0.09831529846527605	0.09762	0.077331380461	0.08693	0.505008280277	0.39526	T	0.01979	0.21521	T	-0.0887363	0.38287	T	-0.36524	0.37444	T	0.598834455013275	0.36354	D	0.759724	0.38410	T	0.19019835	0.40594	0.10757766	0.25900	0.19019835	0.40594	0.10757766	0.25899	-6.297	0.48698	T	0.14363118300184172	0.16344	0.331	0.55320	B	.;.	.;.	2.324314	0.29769	18.23	0.95285732624943364	0.26586	0.92014	0.54755	D	AEFBI	0.442092	0.49996	N	-0.0401053196164673	0.40046	2.371564	0.107935306068944	0.44954	2.767287	0.989291218126179	0.31780	0.638212	0.43195	0	0.653731	0.59785	0	0.653264	0.51672	0	0.635551	0.53088	0	.	.	5.78	5.78	0.91418	4.591000	0.60729	3.506000	0.38809	0.665000	0.62972	0.999000	0.42656	1.000000	0.68203	0.888000	0.42677	0.0:0.0:0.0:1.0	12.493	0.55251	590	0.68897	.;.	.	.	.	.	.	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	0.1429	1231.01	149	chr1	243330649	.	T	C	1231.01	.	AC=6;AF=0.143;AN=42;BaseQRankSum=-4.731e+00;DP=2188;ExcessHet=1.7912;FS=129.457;InbreedingCoeff=-0.1662;MLEAC=6;MLEAF=0.143;MQ=60.00;MQRankSum=0.00;QD=1.02;ReadPosRankSum=1.60;SOR=11.219	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:157,34:191:99:.:.:208,0,3242	15	0	6	0
chr1	245687047	245687047	C	G	exonic	KIF26B	.	nonsynonymous SNV	KIF26B:NM_018012:exon12:c.C4064G:p.A1355G,	.	.	430	1083	9	0	0	9	0.00413793	.	.	2812923	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.07	T	0.02	B	0.006	B	.	.	1.000	N	1.04	L	-1.12	T	-0.808	T	0.231	T	0.034	0.425	6.311	4.9	2.756	2.704	10.678	0.213	0.0326112070447	0.0023	0.000998403	0.0026	0.0006	0.0018	0	0	0.0041	0.0035	0.0008	0.0023156	358	154602	rs190878095	0.0021	0.0021	0.0020	0.0022	0.0128	0.0020	0.0020	0.0105	0.0096	0.0009	0.0025	0.0422	0	3.767e-05	0.0128	0.0012	0.0059	0.0011	0.0021	0.0021	0.0022	0.0019	0.0029	0.0019	0.0018	0.0022	0.0020	0.0006	0	0.0029	0.0432	0	9.423e-05	0.0068	0.0012	0.0033	0.0004	0.053	0.38863	T	0.099	0.38891	T	0.006	0.18235	B	0.006	0.12133	B	.	.	.	.	1	0.08975	N	1.445	0.36358	L	-1.12	0.77593	T	-1.12	0.29114	N	0.16	0.16725	-0.8076	0.54695	T	0.231	0.59657	T	9	0.0031763017	0.00053	T	0.032611	0.54387	D	0.213	0.50496	.	.	0.376089632046	0.37223	0.19510935206649382	0.19427	0.30379330075	0.32703	0.25315529108	0.04108	T	0.150438	0.48991	T	-0.509735	0.00504	T	-0.502641	0.22074	T	0.00984324303304869	0.00130	T	0.750425	0.37198	T	0.061041728	0.12595	0.08241524	0.18807	0.06341246	0.13350	0.08888702	0.20751	-4.161	0.26185	T	.	.	0.097	0.21503	B	.;.	.;.	1.493026	0.19202	14.14	0.91056633131726317	0.20308	0.65572	0.32782	D	AEFDBI	0.336397	0.43453	N	-0.488699259861354	0.22451	1.198877	-0.440108093857011	0.23830	1.301644	0.849636989790684	0.25020	0.706548	0.73137	0	0.724815	0.89359	0	0.61531	0.40942	0	0.604944	0.38103	0	.	.	5.82	4.9	0.63643	2.214000	0.42493	2.597000	0.33501	0.599000	0.40250	0.006000	0.17386	0.023000	0.20922	0.454000	0.27984	0.1329:0.7979:0.0:0.0692	10.678	0.44995	967	0.07127	.;.	.	.	.	.	.	Uncertain significance	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	0	0	0.02381	1703.98	102	chr1	245687047	.	C	G	1703.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.793;DP=1510;ExcessHet=0.0000;FS=3.189;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.52;ReadPosRankSum=-1.991e+00;SOR=0.980	GT:AD:DP:GQ:PL	0/1:64,62:126:99:1718,0,1728	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	0/1:132,121,0:253:99:.:.:3307,0,3673,3702,4036,7738	8	0	1	1
chr2	9374852	9374852	G	A	exonic	ASAP2	.	nonsynonymous SNV	ASAP2:NM_001135191:exon17:c.G1654A:p.E552K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.23	T	0.997	D	0.52	P	0.000	D	1.000	D	1.355	L	0.33	T	-0.802	T	0.202	T	0.566	3.814	19.37	5.27	2.450	9.860	18.882	0.278	0.0246691077813	.	.	1.648e-05	0	0	0	0	1.499e-05	0.0011	0	1.94e-05	3	154602	rs565383190	2.736e-06	3.42e-06	0	5.5e-06	3.478e-05	6.4e-07	4.3e-07	9.24e-06	4.56e-06	0	0	0	0	0	0	8.993e-07	0	3.478e-05	1.315e-05	1.314e-05	0	2.692e-05	2.414e-05	2.18e-06	8.2e-07	.	.	2.414e-05	0	0	0	0	0	0	1.47e-05	0	0	0.046	0.43085	D	0.149	0.32568	T	0.981	0.70673	D	0.09	0.48197	B	0.000002	0.62929	D	0.099941	0.999999	0.58761	D	2.1	0.58353	M	0.33	0.58755	T	-3.03	0.63207	D	0.746	0.74553	-0.8016	0.55050	T	0.202	0.55919	T	10	0.66505086	0.70377	D	0.024669	0.47657	T	0.278	0.59497	0.545	0.65873	0.421022328559	0.41717	0.38175418631873614	0.38090	0.333092236819	0.35346	0.642067790031	0.58858	T	0.226684	0.59178	T	-0.0254106	0.48080	T	-0.177423	0.56760	T	0.898046553134918	0.55007	D	0.940606	0.77652	D	0.44544038	0.63752	0.33407742	0.59238	0.44544038	0.63752	0.33407742	0.59237	-10.91	0.79162	D	.	.	0.175	0.38390	B	.;.	.;.	4.843435	0.79091	27.0	0.99905459597093282	0.97651	0.99358	0.94979	D	AEFBI	0.901892	0.84915	D	0.452045703470728	0.64319	4.683745	0.4960918760676	0.67732	5.123374	1.0	0.98316	0.67177	0.52595	0	0.547309	0.14657	0	0.80507	0.99327	0	0.711	0.71501	0	.	.	5.27	5.27	0.73797	9.994000	0.99266	11.669000	0.94079	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.395000	0.26670	0.0:0.0:1.0:0.0	18.882	0.92329	790	0.46189	.;.	.	.	.	.	.	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	1424.98	58	chr2	9374852	.	G	A	1424.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.360e-01;DP=1162;ExcessHet=0.0000;FS=3.563;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.19;ReadPosRankSum=0.161;SOR=0.487	GT:AD:DP:GQ:PL	0/1:47,61:108:99:1439,0,1058	20	0	1	0
chr2	10791877	10791877	C	T	exonic	PDIA6	.	nonsynonymous SNV	PDIA6:NM_005742:exon6:c.G502A:p.D168N	.	.	426	1095	1	0	0	1	0.000456413	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.16	T	0.999	D	0.997	D	0.000	D	1.000	D	0.86	L	1.03	T	-0.856	T	0.174	T	0.34	3.020	16.08	4.65	1.451	6.050	15.936	0.102	0.0304947922038	.	0.00159744	0.0012	0	8.639e-05	0.0001	0	0	0	0.0084	0.0009767	151	154602	rs528723508	0.0005	0.0005	0.0003	0.0007	0.0079	0.0005	0.0005	0.0074	0.0072	5.974e-05	4.472e-05	0	0	0	0.0003	1.889e-05	0.0005	0.0079	0.0002	0.0002	0.0001	0.0004	0.0070	0.0002	0.0001	0.0052	0.0045	0	0	0	0	0	0	0	1.47e-05	0	0.0070	0.153	0.35918	T	0.206	0.35205	T	0.999	0.77913	D	0.997	0.86255	D	0.000000	0.84330	D	0.000000	1	0.81001	D	0.875	0.21512	L	1.03	0.40469	T	-0.23	0.10656	N	0.568	0.61002	-0.8558	0.51563	T	0.174	0.51769	T	10	0.0074963868	0.00170	T	0.030495	0.52796	D	0.102	0.29158	0.449	0.50957	0.451882325854	0.44810	0.634688552769764	0.63402	0.300224283399	0.32383	0.666181743145	0.62294	T	0.007236	0.06655	T	-0.436524	0.01355	T	-0.395108	0.33953	T	0.109800757472661	0.13403	T	0.968303	0.88939	D	0.45772636	0.64529	0.18356733	0.41354	0.45772636	0.64530	0.18356733	0.41353	-7.79	0.59630	D	.	.	0.102	0.18037	B	.;.;.;.;.;.	.;.;.;.;.;.	2.931636	0.38952	20.9	0.99706758976920185	0.81005	0.98510	0.83546	D	AEFBI	0.793758	0.72166	D	0.120105945232007	0.47402	2.96634	0.174334506162838	0.48444	3.060322	0.999999999142515	0.74766	0.722319	0.85440	0	0.698795	0.70079	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.54	4.65	0.57626	6.110000	0.71213	4.074000	0.41688	-0.190000	0.09434	1.000000	0.71638	0.999000	0.35428	0.018000	0.11154	0.1363:0.8637:0.0:0.0	15.936	0.79500	787	0.46738	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	1	0	0	0	0	0	0	0	0	0	0	0.02381	2445.98	40	chr2	10791877	.	C	T	2445.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.96;DP=896;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.74;ReadPosRankSum=-4.990e-01;SOR=0.656	GT:AD:DP:GQ:PL	0/1:99,93:192:99:2460,0,2473	20	0	1	0
chr2	23864893	23864893	T	C	exonic	ATAD2B	.	nonsynonymous SNV	ATAD2B:NM_001242338:exon11:c.A1220G:p.H407R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.44	T	0.006	B	0.017	B	.	.	0.956	D	0.26	N	-3.53	D	-0.892	T	0.148	T	0.262	1.849	12.14	5.84	2.367	4.223	16.532	0.084	0.0116478170939	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.077e-06	4.105e-06	4.129e-06	0	2.717e-06	5.5e-07	1.5e-07	7.2e-07	2e-07	0	0	0	0	0	0	2.717e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.448	0.09048	T	0.527	0.10209	T	.	.	.	.	.	.	.	.	.	.	0.955574	0.37932	D	.	.	.	-3.53	0.94764	D	-1.58	0.38151	N	0.19	0.20793	-0.8923	0.48731	T	0.148	0.47344	T	9	0.17789313	0.32846	T	0.011648	0.29486	T	0.219	0.51417	0.331	0.31681	0.672754582956	0.66998	0.6648068104265349	0.66417	0.60285670828	0.55282	0.627035319805	0.56724	T	.	.	.	0.0664316	0.60411	T	-0.142352	0.59914	T	0.361597471305519	0.27471	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.088	0.11845	B	.	.	3.381871	0.46779	22.4	0.96857722296242954	0.31369	0.92978	0.57018	D	AEFBI	0.378817	0.46207	N	0.214845505970457	0.51920	3.369515	0.360670962237465	0.59152	4.090821	0.916302595852516	0.26509	0.651	0.46895	0	0.708844	0.79440	0	0.658983	0.55881	0	0.683762	0.67416	0	.	.	5.84	5.84	0.93373	4.206000	0.58271	6.222000	0.55136	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:0.0:1.0	16.532	0.84210	788	0.46569	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.325	1873.78	24	chr2	23864893	.	T	C	1873.78	.	AC=13;AF=0.325;AN=40;BaseQRankSum=-1.572e+00;DP=1254;ExcessHet=11.8493;FS=218.613;InbreedingCoeff=-0.4705;MLEAC=13;MLEAF=0.325;MQ=60.00;MQRankSum=0.00;QD=2.15;ReadPosRankSum=0.843;SOR=11.681	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:42,27:69:99:0|1:23864893_T_C:386,0,429:23864893	7	0	13	1
chr2	24254381	24254381	T	C	exonic	ITSN2	.	nonsynonymous SNV	ITSN2:NM_001348182:exon23:c.A2819G:p.Y940C	.	.	429	1092	1	0	0	1	0.000457666	.	.	2797545	not_provided|ITSN2-related_disorder	MedGen:C3661900|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.18	T	0.001	B	0.001	B	0.004	U	0.922	N	0	N	1.57	T	-1.087	T	0.026	T	0.161	0.520	6.820	-5.66	-1.111	0.358	6.519	0.049	0.0104704500214	.	0.000599042	0.0004	0	0	0.0061	0	0	0	0	0.0003687	57	154602	rs201295238	0.0001	0.0001	0.0001	0.0002	0.0048	0.0001	0.0001	0.0042	0.0040	8.973e-05	2.237e-05	0	0.0048	0	0.0002	9.004e-06	0.0002	3.481e-05	0.0003	0.0003	0.0002	0.0003	0.0058	0.0002	0.0002	0.0042	0.0036	0.0002	0	0	0	0.0058	0	0	1.47e-05	0.0009	0	0.181	0.22400	T	0.164	0.31125	T	0.0	0.07471	B	0.001	0.04355	B	0.004188	0.34013	U	0.000000	0.922257	0.27265	N	0	0.06538	N	1.57	0.29342	T	-0.74	0.32791	N	0.113	0.10056	-1.0873	0.05995	T	0.026	0.11264	T	10	0.007881463	0.00179	T	0.01047	0.27045	T	0.049	0.13647	.	.	0.537170616986	0.53368	0.7682370015963108	0.76772	0.188594219505	0.21179	0.303411543369	0.10911	T	0.089309	0.38345	T	-0.588224	0.00172	T	-0.612593	0.11776	T	0.00243003524415305	0.00025	T	0.152985	0.01314	T	0.04390964	0.06928	0.03728498	0.03349	0.04390964	0.06927	0.03728498	0.03349	-4.107	0.30784	T	.	.	0.060	0.01470	B	.;.;.;.	.;.;.;.	1.523226	0.19552	14.32	0.7061894601431602	0.09355	0.37712	0.25824	N	AEFBI	0.052396	0.09347	N	-1.32308043800597	0.03412	0.1523835	-1.27295184062213	0.04799	0.2272665	0.74677296602855	0.23297	0.732398	0.92422	0	0.743671	0.97443	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	5.22	-5.66	0.02255	0.352000	0.19851	-0.692000	0.07835	-0.831000	0.02872	0.779000	0.29461	0.000000	0.08366	0.393000	0.26625	0.0:0.3528:0.2342:0.413	6.519	0.21459	401	0.82673	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	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	1080.98	34	chr2	24254381	.	T	C	1080.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.28;DP=766;ExcessHet=0.0000;FS=0.872;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.22;ReadPosRankSum=0.996;SOR=0.798	GT:AD:DP:GQ:PL	0/1:35,41:76:99:1095,0,756	20	0	1	0
chr2	25750067	25750067	C	T	exonic	ASXL2	.	nonsynonymous SNV	ASXL2:NM_001369347:exon9:c.G709A:p.A237T	Shashi-Pena syndrome, Autosomal dominant	.	425	1062	34	1	0	36	0.0166667	.	.	697505	not_provided|ASXL2-related_disorder|not_specified	MedGen:C3661900|.|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.57	T	0.024	B	0.009	B	0.022	N	0.980	N	1.52	L	2.24	T	-1.029	T	0.025	T	0.122	1.645	11.46	4.22	1.566	0.440	11.181	0.079	0.00780264859159	0.0038	0.00139776	0.0038	0.0004	0.0033	0	0.0005	0.0057	0.0067	0.0019	0.0038551	596	154602	rs192716734	0.0045	0.0045	0.0045	0.0046	0.0232	0.0044	0.0044	0.0200	0.0188	0.0011	0.0061	0.0083	0	0.0011	0.0232	0.0049	0.0053	0.0018	0.0042	0.0041	0.0043	0.0040	0.0093	0.0039	0.0038	0.0081	0.0076	0.0010	0.0011	0.0093	0.0115	0	0.0011	0.0476	0.0054	0.0057	0.0010	0.034	0.44358	D	0.376	0.16182	T	0.024	0.19075	B	0.009	0.14300	B	0.021661	0.26787	N	0.445872	0.980241	0.25126	N	2.045	0.56016	M	2.24	0.18248	T	-0.89	0.24026	N	0.106	0.09066	-1.0294	0.20649	T	0.025	0.10688	T	10	0.0029503405	0.00048	T	0.007803	0.20694	T	0.079	0.23065	.	.	0.0675242888579	0.06100	0.22718209133153866	0.22633	0.124778172504	0.14054	0.325251996517	0.14216	T	0.060297	0.31349	T	-0.595465	0.00155	T	-0.625647	0.10746	T	0.00537184867181338	0.00058	T	0.70513	0.31558	T	0.040606186	0.05827	0.060843907	0.11654	0.036956888	0.04647	0.06953732	0.14664	-3.332	0.14656	T	0.12593753146672473	0.12621	0.071	0.08705	B	.;.;.	.;.;.	1.725236	0.21960	15.42	0.94025882486374557	0.24136	0.28129	0.23469	N	AEFGBI	0.044503	0.07168	N	-0.613328401915829	0.18542	0.9635463	-0.491562414355824	0.22384	1.215579	0.943501586285711	0.27572	0.706548	0.73137	0	0.71359	0.82159	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	6.01	4.22	0.49153	0.729000	0.25696	0.856000	0.22183	-0.176000	0.10722	0.058000	0.21700	0.999000	0.35428	0.956000	0.50813	0.0:0.8518:0.0:0.1482	11.181	0.47858	704	0.57414	.;.;.	.	.	.	.	.	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	1695.98	35	chr2	25750067	.	C	T	1695.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.063e+00;DP=845;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.86;ReadPosRankSum=0.493;SOR=0.668	GT:AD:DP:GQ:PL	0/1:75,68:143:99:1710,0,2034	20	0	1	0
chr2	26311434	26311434	G	A	exonic	ADGRF3	.	nonsynonymous SNV	ADGRF3:NM_153835:exon8:c.C1697T:p.P566L	.	.	427	1093	2	0	0	2	0.000914077	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06	T	0.987	D	0.721	P	.	.	1.000	N	1.955	M	1.44	T	-1.058	T	0.048	T	0.186	1.303	10.27	3.1	0.406	2.436	5.057	0.047	.	0.0085	0.0091853	0.0030	0.0255	0.0012	0.0084	0	8.996e-05	0	0.0002	0.0027749	429	154602	rs116030611	0.0012	0.0012	0.0013	0.0011	0.0238	0.0012	0.0012	0.0225	0.0219	0.0238	0.0011	0.0006	0.0188	0	0.0009	2.878e-05	0.0019	0.0003	0.0069	0.0069	0.0070	0.0067	0.0228	0.0065	0.0064	0.0216	0.0211	0.0228	0	0.0020	0	0.0104	0	0.0034	8.819e-05	0.0047	0.0004	0.001	0.78490	D	0.0	0.92824	D	0.931	0.51899	P	0.354	0.42942	B	.	.	.	.	0.999996	0.08975	N	.	.	.	1.42	0.33630	T	-4.65	0.79399	D	0.223	0.30800	-1.0575	0.12388	T	0.048	0.20553	T	9	0.0034181178	0.00060	T	.	.	.	0.047	0.12962	.	.	0.260249123532	0.25628	0.25063136750255655	0.24977	0.159394310032	0.17987	0.347096741199	0.17493	T	0.050549	0.28626	T	-0.552632	0.00281	T	-0.54834	0.17484	T	0.0364939232411237	0.03067	T	0.753825	0.37593	T	0.046690956	0.07857	0.091177024	0.21422	0.046690956	0.07857	0.091177024	0.21421	-4.648	0.34870	T	.	.	0.097	0.15609	B	.;.;.	.;.;.	1.677169	0.21378	15.17	0.98859131448592674	0.47442	0.28186	0.23485	N	AEFDBI	0.139256	0.26080	N	-0.354925686978815	0.27091	1.483652	-0.476672938328932	0.22798	1.240069	0.984583377244943	0.30742	0.553676	0.25195	0	0.588015	0.36545	0	0.602189	0.34648	0	0.542086	0.14980	0	.	.	5.85	3.1	0.34780	0.167000	0.16419	4.452000	0.43426	-0.106000	0.15538	0.000000	0.06391	1.000000	0.68203	0.002000	0.04165	0.154:0.0:0.5522:0.2938	5.057	0.13876	445	0.79730	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	3045.98	40	chr2	26311434	.	G	A	3045.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.54;DP=1079;ExcessHet=0.0000;FS=1.675;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.44;ReadPosRankSum=1.44;SOR=0.569	GT:AD:DP:GQ:PL	0/1:103,108:211:99:3060,0,2505	20	0	1	0
chr2	27033106	27033106	G	A	exonic	TMEM214	.	nonsynonymous SNV	TMEM214:NM_001083590:exon1:c.G91A:p.G31S	.	.	422	1099	1	0	0	1	0.000454752	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.74	T	0.419	B	0.244	B	0.000	D	0.669	N	0.69	N	-2.11	D	-0.323	T	0.415	T	0.386	1.640	11.44	4.3	2.235	3.032	12.141	0.289	.	0.0006	0.000998403	0.0025	0.0103	0	0	0	0	0	0	0.0001617	25	154602	rs368291134	0.0002	0.0002	0.0002	0.0002	0.0074	0.0002	0.0002	0.0065	0.0062	0.0074	0.0005	0	0	0	0.0007	3.261e-06	0.0006	0	0.0023	0.0023	0.0023	0.0022	0.0081	0.0021	0.0020	0.0074	0.0071	0.0081	0	0.0006	0	0	0	0	0	0.0009	0	0.226	0.19430	T	0.201	0.27767	T	0.084	0.35307	B	0.042	0.38795	B	0.000064	0.52346	D	0.072942	0.66851	0.33119	D	1.01	0.25309	L	-2.11	0.86216	D	0.04	0.06868	N	0.175	0.18784	-0.3234	0.74327	T	0.415	0.76198	T	10	0.0062464774	0.00141	T	.	.	.	0.289	0.60808	.	.	0.620904768778	0.61782	0.16957041781291018	0.16877	0.505237964699	0.48774	0.639909625053	0.58551	T	0.00705	0.06470	T	-0.282592	0.10395	T	-0.17301	0.57168	T	0.167114706523352	0.18381	T	0.464953	0.13579	T	0.104742646	0.24764	0.12910411	0.31049	0.104742646	0.24763	0.12910411	0.31048	-4.92	0.35959	T	.	.	0.091	0.24833	B	.;.	.;.	2.193799	0.27977	17.64	0.93832342953826964	0.23819	0.28330	0.23524	N	ALL	0.166841	0.29346	N	-0.33642582825177	0.27774	1.526552	-0.222975146121646	0.30714	1.731762	0.99999999999993	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.504199	0.09095	0	0.56214	0.19341	0	.	.	4.3	4.3	0.50540	3.314000	0.51653	3.008000	0.35949	0.573000	0.29008	0.999000	0.42656	0.999000	0.35428	0.014000	0.10232	0.0:0.0:1.0:0.0	12.141	0.53304	444	0.79803	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	544.98	35	chr2	27033106	.	G	A	544.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.06;DP=848;ExcessHet=0.0000;FS=5.288;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.34;ReadPosRankSum=-1.671e+00;SOR=0.204	GT:AD:DP:GQ:PL	0/1:16,22:38:99:559,0,320	20	0	1	0
chr2	27038174	27038174	C	T	exonic	TMEM214	.	nonsynonymous SNV	TMEM214:NM_001083590:exon9:c.C1046T:p.T349M	.	.	420	1092	10	0	0	10	0.00455789	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07	T	0.174	B	0.03	B	0.020	N	1.000	N	0.805	L	0.94	T	-1.060	T	0.057	T	0.357	0.560	7.029	0.353	0.038	0.431	5.234	0.013	0.00709342326713	8e-05	0.00119808	0.0008	0	0.0005	0	0	0.0003	0.0011	0.0042	0.0006921	107	154602	rs200292649	0.0005	0.0005	0.0003	0.0006	0.0045	0.0004	0.0004	0.0041	0.0040	0.0002	0.0004	0.0013	2.519e-05	0	0.0009	0.0002	0.0007	0.0045	0.0003	0.0003	0.0002	0.0004	0.0046	0.0002	0.0002	0.0031	0.0026	4.813e-05	0	0.0002	0.0020	0	0	0	0.0001	0.0009	0.0046	0.071	0.38407	T	0.066	0.44702	T	0.027	0.28827	B	0.005	0.21741	B	0.020386	0.27050	N	0.448069	1	0.08975	N	1.61	0.41143	L	0.94	0.43672	T	-1.73	0.47852	N	0.196	0.26837	-1.0601	0.11731	T	0.057	0.23866	T	10	0.006698042	0.00152	T	0.007093	0.18786	T	0.015	0.02232	.	.	0.0954503805726	0.09146	0.23371121419128238	0.23286	0.13630685124	0.15377	0.274575144053	0.06747	T	0.043338	0.26468	T	-0.488593	0.00661	T	-0.474614	0.25021	T	0.0128376919794793	0.00219	T	0.757724	0.39073	T	0.01777656	0.00302	0.049854476	0.07703	0.01777656	0.00301	0.049854476	0.07703	-4.375	0.29326	T	.	.	0.064	0.09481	B	.;.;.	.;.;.	1.706737	0.21738	15.33	0.95484442015611004	0.27051	0.38631	0.26032	N	AEFBCI	0.229928	0.35338	N	-0.972599545284103	0.09191	0.434032	-0.971446157798127	0.10429	0.5252466	0.999703094695499	0.41986	0.706548	0.73137	0	0.697927	0.68747	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.42	0.353	0.15294	0.477000	0.21906	-0.494000	0.08842	-0.805000	0.03119	0.223000	0.24568	0.000000	0.08366	0.020000	0.11549	0.0:0.4393:0.22:0.3407	5.234	0.14753	441	0.80015	.;.;.	.	.	.	.	.	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	1143.98	41	chr2	27038174	.	C	T	1143.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.97;DP=802;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.30;ReadPosRankSum=0.732;SOR=0.677	GT:AD:DP:GQ:PL	0/1:39,41:80:99:1158,0,901	20	0	1	0
chr2	27082373	27082373	A	G	exonic	EMILIN1	.	nonsynonymous SNV	EMILIN1:NM_007046:exon4:c.A802G:p.S268G,	.	.	415	1106	1	0	0	1	0.000451875	.	.	708202	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.4	T	0.0	B	0.0	B	0.073	N	1.000	N	-1.04	N	2.28	T	-0.986	T	0.011	T	0.126	-1.976	0.007	3.0	0.117	0.696	14.901	0.073	0.00611226746129	0.0031	0.000998403	0.0008	0.0097	0.0004	0	0	0	0	6.303e-05	0.0006662	103	154602	rs35464488	0.0002	0.0002	0.0003	0.0002	0.0077	0.0002	0.0002	0.0069	0.0066	0.0077	0.0004	0	0	0	0.0007	1.8e-05	0.0007	3.482e-05	0.0023	0.0023	0.0024	0.0022	0.0082	0.0021	0.0020	0.0074	0.0072	0.0082	0	0.0005	0	0	0	0	0	0.0009	0	0.498	0.07797	T	0.47	0.12246	T	0.0	0.02946	B	0.0	0.01387	B	0.073209	0.21361	N	0.439557	1	0.08975	N	-1.665	0.00379	N	2.28	0.17271	T	0.4	0.03463	N	0.109	0.09490	-0.9861	0.33566	T	0.011	0.04321	T	10	0.0031388998	0.00052	T	0.006112	0.15993	T	0.073	0.21317	.	.	0.115124310173	0.11017	0.12779586082915453	0.12705	0.166566091736	0.18790	0.405493468046	0.25833	T	0.088334	0.38135	T	-0.67478	0.00051	T	-0.73622	0.04051	T	0.0118180645277552	0.00183	T	0.288971	0.05229	T	0.037558693	0.04837	0.06208652	0.12093	0.037558693	0.04837	0.06208652	0.12093	-2.993	0.10106	T	.	.	0.053	0.00274	B	.	.	-0.533069	0.01763	0.134	0.16111763171338561	0.00419	0.00359	0.01841	N	AEFDBCIJ	0.027165	0.02172	N	-1.87810490161221	0.00381	0.01636144	-1.75691419973839	0.00908	0.04058833	0.999790895331739	0.43153	0.554377	0.28877	0	0.550933	0.16991	0	0.576033	0.28219	0	0.567892	0.33627	0	.	.	4.81	3.0	0.33773	0.515000	0.22507	3.553000	0.39056	-3.065000	0.00129	0.017000	0.19353	1.000000	0.68203	0.000000	0.00833	0.0871:0.0:0.9129:0.0	14.901	0.70321	406	0.82375	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	1638.98	35	chr2	27082373	.	A	G	1638.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.081e+00;DP=786;ExcessHet=0.0000;FS=5.502;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=17.62;ReadPosRankSum=-5.220e-01;SOR=1.035	GT:AD:DP:GQ:PL	0/1:32,61:93:99:1653,0,826	20	0	1	0
chr2	27101354	27101354	G	T	exonic	CGREF1	.	nonsynonymous SNV	CGREF1:NM_001166239:exon6:c.C877A:p.P293T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	T	0.906	P	0.444	B	0.060	N	0.675	N	.	.	-1.32	T	-0.497	T	0.413	T	0.353	2.428	14.08	3.8	1.279	2.227	13.452	0.254	0.202772999968	0.0003	.	5.847e-05	0.0006	0	0	0	0	0	6.537e-05	5.17e-05	8	154602	rs140516990	4.316e-05	4.309e-05	4.224e-05	4.408e-05	0.0013	3.447e-05	3.133e-05	0.0010	0.0009	0.0013	0.0001	0	0	0	0.0007	0	0.0001	1.163e-05	0.0003	0.0003	0.0002	0.0003	0.0008	0.0002	0.0002	0.0006	0.0005	0.0008	0	0.0003	0	0	0	0	0	0	0	0.226	0.36310	T	0.059	0.65728	T	0.906	0.49993	P	0.444	0.45865	B	0.059762	0.22298	N	0.463174	1	0.30331	N	2.015	0.55033	M	-1.41	0.80560	T	-1.49	0.40082	N	0.252	0.36043	-0.4966	0.68772	T	0.413	0.76102	T	9	0.08697742	0.14838	T	0.202773	0.86839	D	0.254	0.56428	.	.	0.81447998794	0.81273	0.20691205126085802	0.20607	0.607646730717	0.55570	0.348205447197	0.17657	T	0.015768	0.13159	T	-0.290531	0.09583	T	-0.230638	0.51711	T	0.0344774090373161	0.02718	T	0.751525	0.37371	T	0.0965073	0.22732	0.11638673	0.28097	0.0965073	0.22732	0.11638673	0.28096	.	.	.	.	.	0.087	0.14842	B	.;.;.;.;.	.;.;.;.;.	2.477089	0.31934	18.89	0.95389216444927027	0.26825	0.22815	0.21872	N	AEFBCI	0.128181	0.24585	N	-0.201681386998756	0.33064	1.871756	-0.322946112072468	0.27359	1.517568	0.999851775644531	0.44174	0.615465	0.37627	0	0.547309	0.14657	0	0.658983	0.55881	0	0.655142	0.61905	0	.	.	4.69	3.8	0.42887	2.170000	0.42071	5.467000	0.48687	0.676000	0.76740	0.031000	0.20493	0.997000	0.33255	0.365000	0.25999	0.0:0.1587:0.8412:0.0	13.452	0.60628	362	0.84826	.;.;.;.;.	.	.	.	.	.	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	2222.98	33	chr2	27101354	.	G	T	2222.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.836e+00;DP=1053;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.21;ReadPosRankSum=0.387;SOR=0.685	GT:AD:DP:GQ:PL	0/1:88,94:182:99:2237,0,2207	20	0	1	0
chr2	27137875	27137875	A	G	exonic	PRR30	.	nonsynonymous SNV	PRR30:NM_178553:exon3:c.T455C:p.L152P,	.	.	0	225	1	0	0	1	0.00221729	.	.	2682196	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.07	T	0.004	B	0.011	B	0.718	N	1.000	N	0.805	L	1.22	T	-0.997	T	0.056	T	0.197	1.081	9.412	0.823	-0.044	0.302	1.081	0.024	0.00762609016641	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1280021877	9.679e-06	9.577e-06	9.603e-06	9.757e-06	0.0003	5.62e-06	4.39e-06	0.0001	0.0001	0.0003	2.275e-05	0	0	0	0	2.719e-06	1.675e-05	0	6.579e-06	6.57e-06	1.286e-05	0	2.416e-05	0	0	.	.	2.416e-05	0	0	0	0	0	0	0	0	0	0.07	0.35349	T	0.227	0.25362	T	0.004	0.12183	B	0.011	0.15521	B	0.717782	0.06296	N	1.249320	0.999997	0.08975	N	1.245	0.31408	L	1.22	0.37052	T	-2.38	0.52451	N	0.068	0.04072	-0.9967	0.30838	T	0.056	0.23527	T	10	0.06332821	0.08234	T	0.007626	0.20246	T	0.024	0.04979	0.244	0.17830	0.0954503805726	0.09146	0.060216753879086954	0.05961	0.281492663886	0.30622	.	.	.	0.033882	0.23096	T	-0.299082	0.08747	T	-0.584522	0.14143	T	0.0359847614290344	0.02978	T	0.226477	0.02994	T	0.12453024	0.29216	0.18806632	0.42075	0.12453024	0.29215	0.18806632	0.42074	-2.706	0.07354	T	.	.	0.081	0.08417	B	.	.	0.428602	0.07991	4.706	0.79291265701164115	0.12675	0.03108	0.08043	N	AEFBI	0.112765	0.22277	N	-0.970475661601901	0.09238	0.4364135	-1.00588526662056	0.09655	0.481634	0.104100891220944	0.16465	0.497415	0.19182	0	0.547309	0.14657	0	0.578056	0.29568	0	0.542086	0.14980	0	.	.	4.75	0.823	0.17950	0.012000	0.13184	0.609000	0.20011	0.655000	0.54021	0.000000	0.06391	0.000000	0.08366	0.015000	0.10482	0.5123:0.1899:0.1146:0.1832	1.081	0.01542	317	0.87119	.	.	.	.	.	.	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	1506.98	42	chr2	27137875	.	A	G	1506.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.880e-01;DP=834;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.22;ReadPosRankSum=-1.454e+00;SOR=0.736	GT:AD:DP:GQ:PL	0/1:47,59:106:99:1521,0,1156	20	0	1	0
chr2	27380216	27380216	C	T	exonic	ZNF513	.	nonsynonymous SNV	ZNF513:NM_144631:exon2:c.G88A:p.G30R,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.45	T	0.995	D	0.84	P	0.000	D	1.000	D	0.695	N	2.84	T	-1.052	T	0.033	T	0.703	4.064	20.9	3.84	2.149	2.887	11.455	0.105	0.0204211750371	.	.	1.648e-05	9.625e-05	0	0	0	0	0	6.057e-05	1.29e-05	2	154602	rs771563158	6.84e-06	6.84e-06	8.167e-06	5.5e-06	8.961e-05	3.46e-06	2.52e-06	2.374e-05	1.258e-05	8.961e-05	0	0	2.519e-05	0	0	4.496e-06	0	1.159e-05	6.578e-06	6.568e-06	0	1.347e-05	2.416e-05	0	0	.	.	2.416e-05	0	0	0	0	0	0	0	0	0	0.039	0.42487	D	0.054	0.47097	T	0.995	0.67487	D	0.84	0.60170	P	0.000470	0.44119	D	0.000000	0.571075	0.81001	D	1.59	0.40313	L	2.84	0.10674	T	-1.1	0.28497	N	0.452	0.48963	-1.0518	0.13899	T	0.033	0.14073	T	10	0.28560206	0.46142	T	0.020421	0.43011	T	0.105	0.29889	0.303	0.27164	0.267718591433	0.26370	0.16021618100405327	0.15942	1.00570345527	0.74575	0.721856951714	0.70316	T	0.017716	0.14403	T	-0.186503	0.22773	T	-0.269007	0.47919	T	0.738727867603302	0.42669	D	0.829117	0.49388	T	0.15330294	0.34757	0.3077177	0.56792	0.15330294	0.34757	0.3077177	0.56792	-4.901	0.35746	T	.	.	0.266	0.50016	B	.	.	3.813003	0.55007	23.6	0.99918327591324452	0.98586	0.54917	0.29734	D	AEFDGBHCI	0.455864	0.50797	N	0.116510803594638	0.47233	2.951904	0.0887865298324132	0.43983	2.688947	0.999999998706648	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.372554	0.06265	0	.	.	3.84	3.84	0.43422	2.083000	0.41239	7.566000	0.60594	0.504000	0.22967	0.732000	0.28943	1.000000	0.68203	0.987000	0.62547	0.0:1.0:0.0:0.0	11.455	0.49421	338	0.86082	.	.	.	.	.	.	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	1606.98	33	chr2	27380216	.	C	T	1606.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.26;DP=811;ExcessHet=0.0000;FS=2.400;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.97;ReadPosRankSum=2.26;SOR=0.928	GT:AD:DP:GQ:PL	0/1:55,60:115:99:1621,0,1255	20	0	1	0
chr2	27578872	27578872	T	C	exonic	C2orf16	.	nonsynonymous SNV	C2orf16:NM_032266:exon1:c.T2300C:p.I767T,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.19	T	0.102	B	0.022	B	.	.	1.000	N	0.695	N	2.95	T	-0.964	T	0.004	T	0.124	-0.067	3.675	2.41	0.420	0.133	4.915	0.011	.	0.0098	0.0109824	0.0028	0.0284	0.0022	0	0	0.0004	0	0.0001	0.0026908	416	154602	rs13416968	0.0011	0.0011	0.0012	0.0010	0.0302	0.0010	0.0010	0.0286	0.0280	0.0302	0.0026	0.0005	2.519e-05	5.617e-05	0.0029	0.0002	0.0024	9.275e-05	0.0088	0.0088	0.0087	0.0089	0.0295	0.0084	0.0082	0.0282	0.0276	0.0295	0.0022	0.0045	0.0003	0	0	0.0170	0.0004	0.0038	0.0002	0.167	0.23095	T	0.266	0.22627	T	0.102	0.25827	B	0.022	0.19653	B	.	.	.	.	1	0.08975	N	0.805	0.20218	L	2.95	0.09635	T	-0.99	0.26200	N	0.14	0.13911	-0.9644	0.38330	T	0.004	0.01435	T	9	0.0030596852	0.00050	T	.	.	.	0.011	0.01250	.	.	0.0297737177859	0.01360	0.04474488649128446	0.04418	0.136421546733	0.15389	.	.	.	0.005144	0.04581	T	-0.668861	0.00056	T	-0.710551	0.05267	T	0.000265367619518916	0.00002	T	0.335566	0.07351	T	0.02709355	0.01852	0.040622678	0.04433	0.02709355	0.01852	0.040622678	0.04432	-3.238	0.12951	T	.	.	0.199	0.42244	B	.;.	.;.	0.451555	0.08217	4.954	0.74393103929761473	0.10679	0.05304	0.11151	N	AEBI	0.053579	0.09666	N	-0.951758281569804	0.09653	0.4578081	-0.910926211920886	0.11836	0.6054202	0.901080080681785	0.26092	0.615465	0.37627	0	0.610034	0.51514	0	0.577349	0.28860	0	0.655142	0.61905	0	.	.	4.83	2.41	0.28644	0.136000	0.15794	0.474000	0.18740	-1.628000	0.00857	0.176000	0.24013	0.993000	0.31925	0.005000	0.06747	0.0:0.0967:0.1882:0.7151	4.915	0.13194	67	0.97183	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	1542.98	34	chr2	27578872	.	T	C	1542.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.411e+00;DP=1943;ExcessHet=0.0000;FS=2.252;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.15;ReadPosRankSum=1.37;SOR=0.503	GT:AD:DP:GQ:PL	0/1:64,63:127:99:1557,0,1764	20	0	1	0
chr2	27581247	27581247	C	T	exonic	C2orf16	.	nonsynonymous SNV	C2orf16:NM_032266:exon1:c.C4675T:p.H1559Y,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.77	T	0.001	B	0.001	B	.	.	1.000	N	0.755	N	3.55	T	-0.910	T	0.002	T	0.021	0.287	5.555	-5.76	-1.329	-2.314	2.250	0.025	.	0.0111	0.0117812	0.0030	0.0319	0.0021	0	0	0.0004	0.0011	0.0001	0.0028978	448	154602	rs13392197	0.0012	0.0012	0.0013	0.0010	0.0341	0.0011	0.0011	0.0324	0.0317	0.0341	0.0027	0.0005	0	1.872e-05	0.0029	0.0002	0.0026	5.797e-05	0.0098	0.0098	0.0096	0.0099	0.0330	0.0094	0.0092	0.0316	0.0310	0.0330	0	0.0046	0.0003	0	0	0.0170	0.0004	0.0061	0	0.359	0.11957	T	0.747	0.04860	T	0.001	0.07471	B	0.001	0.04355	B	.	.	.	.	1	0.08975	N	1.355	0.33814	L	3.55	0.04746	T	-1.21	0.30762	N	0.075	0.04913	-0.9097	0.46891	T	0.002	0.00585	T	9	0.003415078	0.00060	T	.	.	.	0.025	0.05312	.	.	0.0401082797425	0.02173	0.02933321229512109	0.02882	0.099276917984	0.11216	.	.	.	0.001812	0.01233	T	-0.787181	0.00010	T	-0.87844	0.00667	T	0.0171330708153037	0.00458	T	0.351465	0.08047	T	0.03453695	0.03894	0.045976486	0.06306	0.03453695	0.03894	0.045976486	0.06306	-5.273	0.39675	T	.	.	0.092	0.13876	B	.;.	.;.	-0.955187	0.00837	0.029	0.60675685736180729	0.06521	0.01493	0.04955	N	AEFBI	0.085442	0.17321	N	-1.63983468700926	0.01078	0.04681076	-1.72877256423336	0.01016	0.0455486	0.99981757338528	0.43459	0.516011	0.20929	0	0.610034	0.51514	0	0.59043	0.30614	0	0.567892	0.33627	0	.	.	4.05	-5.76	0.02183	-0.341000	0.07858	-2.416000	0.03781	-0.326000	0.05813	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1341:0.3469:0.1054:0.4136	2.250	0.03794	66	0.97223	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	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	4524.98	34	chr2	27581247	.	C	T	4524.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-8.680e-01;DP=1772;ExcessHet=0.0000;FS=2.147;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.85;ReadPosRankSum=0.888;SOR=0.725	GT:AD:DP:GQ:PL	0/1:202,180:382:99:4539,0,5262	20	0	1	0
chr2	27650129	27650129	C	T	exonic	GPN1	.	nonsynonymous SNV	GPN1:NM_001145049:exon12:c.C769T:p.H257Y	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	D	0.308	B	0.087	B	0.029	N	0.969	N	1.1	L	0.95	T	-0.970	T	0.092	T	0.227	2.300	13.65	5.17	2.665	3.763	15.521	0.033	0.00267552835508	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.045	0.40832	D	0.091	0.57104	T	.	.	.	.	.	.	0.029068	0.25507	N	0.471231	0.988772	0.25766	N	1.59	0.40313	L	0.95	0.43279	T	-1.15	0.29525	N	0.268	0.37613	-0.9699	0.37220	T	0.092	0.35228	T	10	0.11295575	0.21205	T	0.002676	0.05463	T	0.033	0.08068	0.163	0.06730	0.378498632473	0.37457	0.12294395356980053	0.12220	0.280422615344	0.30528	0.340373247862	0.16494	T	0.006244	0.05676	T	-0.179908	0.23749	T	-0.496202	0.22742	T	0.628471314907074	0.37554	D	0.914708	0.69569	D	0.1408087	0.32471	0.15381986	0.36129	0.1408087	0.32471	0.15381986	0.36128	-3.95	0.23098	T	.	.	0.119	0.24833	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	3.539520	0.49704	22.8	0.97056225136999175	0.32176	0.82687	0.41881	D	AEFBI	0.370554	0.45688	N	-0.0469348882693378	0.39739	2.348402	0.0750475824862407	0.43297	2.63447	0.999988020627645	0.51787	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.17	5.17	0.70848	4.143000	0.57817	4.839000	0.45267	0.530000	0.24713	0.920000	0.31959	0.923000	0.28366	0.984000	0.60418	0.0:1.0:0.0:0.0	15.521	0.75598	47	0.97709	.;.;.;.;.;.;.;.	.	.	.	.	.	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	1201.98	34	chr2	27650129	.	C	T	1201.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.25;DP=810;ExcessHet=0.0000;FS=4.874;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.13;ReadPosRankSum=-1.108e+00;SOR=1.230	GT:AD:DP:GQ:PL	0/1:59,49:108:99:1216,0,1429	20	0	1	0
chr2	27663876	27663876	G	T	exonic	SLC4A1AP	.	nonsynonymous SNV	SLC4A1AP:NM_018158:exon1:c.G124T:p.V42F,	.	.	0	225	1	0	0	1	0.00221729	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07	T	0.856	P	0.405	B	.	.	0.999	N	0	N	1.51	T	-1.092	T	0.043	T	0.408	2.920	15.73	3.21	1.073	1.564	8.120	0.083	0.00751667197332	.	0.000199681	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs116516953	1.094e-05	1.094e-05	9.528e-06	1.238e-05	0.0003	6.48e-06	5.24e-06	0.0002	0.0001	0.0003	0	0	0	0	0.0002	0	6.623e-05	1.159e-05	1.313e-05	1.312e-05	1.285e-05	1.343e-05	4.811e-05	2.18e-06	8.2e-07	7.97e-06	2.98e-06	4.811e-05	0	0	0	0	0	0	0	0	0	0.018	0.50676	D	0.065	0.44702	T	0.856	0.47190	P	0.405	0.44649	B	.	.	.	.	0.998582	0.22057	N	0.895	0.22405	L	1.51	0.30937	T	-0.49	0.15578	N	0.348	0.39962	-1.0916	0.05270	T	0.043	0.18285	T	9	0.17598346	0.32559	T	0.007517	0.19952	T	0.083	0.24192	.	.	0.536147182381	0.53264	0.11952718089600575	0.11879	0.349746417612	0.36819	0.344695687294	0.17138	T	0.007001	0.06422	T	-0.0449848	0.45207	T	-0.302394	0.44473	T	0.31269171833992	0.25524	T	0.248975	0.03721	T	0.09549109	0.22474	0.12396923	0.29886	0.09549109	0.22474	0.12396923	0.29885	-3.888	0.22122	T	.	.	0.079	0.07841	B	.;.	.;.	1.748284	0.22243	15.54	0.93522635219171368	0.23340	0.32342	0.24561	N	ALL	0.115741	0.22744	N	-0.358932915447921	0.26945	1.474548	-0.351123293277572	0.26474	1.462537	1.0	0.98316	0.266657	0.04791	1	0.218748	0.04544	0	0.47417	0.07244	0	0.372554	0.06265	0	.	.	4.08	3.21	0.35933	1.224000	0.32142	3.363000	0.37875	-0.185000	0.09859	0.918000	0.31901	1.000000	0.68203	0.310000	0.24737	0.1122:0.0:0.8878:0.0	8.120	0.30124	45	0.97767	.;.	.	.	.	.	.	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	1985.98	35	chr2	27663876	.	G	T	1985.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.585;DP=880;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.24;ReadPosRankSum=0.768;SOR=0.692	GT:AD:DP:GQ:PL	0/1:113,81:194:99:2000,0,3070	20	0	1	0
chr2	28606523	28606523	A	G	exonic	PLB1	.	nonsynonymous SNV	PLB1:NM_001170585:exon42:c.A3052G:p.T1018A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.65	T	0.027	B	0.013	B	0.565	N	1.000	N	1.245	L	0.89	T	-1.010	T	0.061	T	0.29	-1.835	0.009	-0.814	0.067	0.537	3.761	0.040	0.00258421393742	.	.	8.246e-06	9.656e-05	0	0	0	0	0	0	6.5e-06	1	154602	rs531809743	1.163e-05	1.163e-05	9.529e-06	1.375e-05	0.0004	7.08e-06	5.79e-06	0.0002	0.0002	0.0004	0	0	0	0	0.0002	0	4.968e-05	0	4.603e-05	4.595e-05	2.572e-05	6.728e-05	0.0002	2.111e-05	1.528e-05	7.89e-05	5.586e-05	0.0002	0	0	0	0	0	0	0	0	0	0.751	0.03576	T	0.201	0.27503	T	0.007	0.19556	B	0.006	0.16460	B	0.564918	0.11298	N	0.800606	1	0.18878	N	1.27	0.32069	L	0.89	0.45636	T	-1.49	0.38924	N	0.204	0.22614	-1.0101	0.26886	T	0.061	0.25419	T	10	0.021672636	0.00523	T	0.002584	0.05206	T	0.040	0.10527	0.274	0.22528	0.139678290688	0.13603	0.29024573116522534	0.28937	0.041304716601	0.04434	0.355093508959	0.18670	T	0.008324	0.07654	T	-0.217891	0.18280	T	-0.550762	0.17252	T	0.0309602920013229	0.02140	T	0.436356	0.12220	T	0.04510274	0.07325	0.03868629	0.03792	0.04510274	0.07325	0.03868629	0.03792	-4.267	0.27712	T	.	.	0.094	0.14568	B	.;.	.;.	1.263721	0.16619	12.66	0.19342185697740044	0.00648	0.05342	0.11198	N	AEFDGBCI	0.041806	0.06406	N	-1.2100239472584	0.04853	0.2199272	-1.23611666411002	0.05340	0.2541847	0.999986981456742	0.51787	0.554377	0.28877	0	0.573888	0.26702	0	0.547309	0.15389	0	0.567892	0.33627	0	.	.	5.25	-0.814	0.10299	0.349000	0.19801	3.400000	0.38123	-0.054000	0.16847	0.006000	0.17386	0.134000	0.23028	0.226000	0.22626	0.5194:0.0:0.164:0.3166	3.761	0.08127	750	0.51762	.;.	.	.	.	.	.	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	1951.98	34	chr2	28606523	.	A	G	1951.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-9.550e-01;DP=821;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.94;ReadPosRankSum=-5.100e-02;SOR=0.662	GT:AD:DP:GQ:PL	0/1:60,80:140:99:1966,0,1462	20	0	1	0
chr2	28632060	28632060	T	C	exonic	PLB1	.	nonsynonymous SNV	PLB1:NM_001170585:exon54:c.T3889C:p.W1297R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.56	T	0.063	B	0.016	B	0.004	N	1.000	N	0.365	N	2.65	T	-1.037	T	0.016	T	0.441	0.706	7.762	-10.7	-1.604	-4.623	8.699	0.024	0.00340711915523	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.368e-06	1.368e-06	2.723e-06	0	0.0002	2.3e-07	9e-08	.	.	0	0	0	0	0	0.0002	0	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.839	0.02818	T	0.35	0.17696	T	0.063	0.23376	B	0.016	0.17743	B	0.004451	0.01025	N	2.583510	1	0.08975	N	1.505	0.38159	L	2.65	0.12676	T	-1.75	0.41428	N	0.19	0.20793	-1.0373	0.18140	T	0.016	0.06569	T	10	0.049373478	0.04518	T	0.003407	0.07664	T	0.101	0.28911	0.562	0.68229	0.0920862733494	0.08535	0.5205387129530598	0.51976	0.0718100602662	0.08045	0.281612038612	0.07718	T	0.007578	0.06977	T	-0.240776	0.15248	T	-0.583635	0.14221	T	0.0641011127038688	0.07797	T	0.338066	0.07246	T	0.18732876	0.40182	0.14159651	0.33715	0.18732876	0.40182	0.14159651	0.33714	-0.709	0.00810	T	.	.	0.127	0.26855	B	.;.	.;.	-0.760064	0.01188	0.058	0.50530324138679517	0.04400	0.00508	0.02383	N	AEFDBI	0.045951	0.07574	N	-1.60766401167952	0.01226	0.05334386	-1.72902322361368	0.01015	0.04550124	0.999999999832227	0.74766	0.554377	0.28877	0	0.547309	0.14657	0	0.573888	0.23631	0	0.567892	0.33627	0	.	.	5.37	-10.7	0.00191	-4.653000	0.00234	-2.482000	0.03700	0.665000	0.62972	0.000000	0.06391	0.000000	0.08366	0.380000	0.26335	0.3966:0.4742:0.0:0.1291	8.699	0.33476	722	0.55239	GDSL lipase/esterase|Phospholipase B;.	.	.	.	.	.	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	1449.98	44	chr2	28632060	.	T	C	1449.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.858;DP=895;ExcessHet=0.0000;FS=3.510;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.18;ReadPosRankSum=1.09;SOR=0.818	GT:AD:DP:GQ:PL	0/1:54,56:110:99:1464,0,1320	20	0	1	0
chr2	28869707	28869707	T	C	exonic	TRMT61B	.	nonsynonymous SNV	TRMT61B:NM_017910:exon1:c.A571G:p.K191E,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.78	T	0.0	B	0.001	B	0.100	N	1.000	N	-1.27	N	2.15	T	-0.956	T	0.010	T	0.067	0.369	6.002	-0.275	-0.375	1.206	12.250	0.052	0.00407143791108	0.0006	0.00119808	0.0001	0.0015	0	0	0	1.498e-05	0	0	0.0001617	25	154602	rs113838676	8.551e-05	8.551e-05	9.256e-05	7.838e-05	0.0022	7.312e-05	6.815e-05	0.0018	0.0016	0.0022	0.0001	0	0	0	0.0002	8.993e-07	0.0007	0	0.0004	0.0004	0.0004	0.0004	0.0015	0.0003	0.0003	0.0012	0.0011	0.0015	0	0.0002	0	0	0	0	0	0	0	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.001	0.04355	B	0.099840	0.19915	N	0.473437	0.999765	0.20447	N	0.57	0.15267	N	2.15	0.19311	T	1.88	0.00467	N	0.066	0.03841	-0.9563	0.39861	T	0.010	0.03582	T	10	0.0075855553	0.00172	T	0.004071	0.09712	T	0.052	0.14661	.	.	0.239901079897	0.23603	0.48204521509846304	0.48124	0.116037333508	0.13092	0.330566465855	0.15021	T	0.004052	0.03463	T	-0.673004	0.00053	T	-0.764128	0.02966	T	0.00455625391095068	0.00049	T	0.576042	0.20701	T	0.12485521	0.29284	0.11865003	0.28640	0.12485521	0.29284	0.11865003	0.28640	-2.585	0.06390	T	.	.	0.055	0.00361	B	.	.	1.660712	0.21177	15.09	0.74788147241631264	0.10827	0.04840	0.10571	N	AEFDGBCI	0.024932	0.01625	N	-1.11453418122625	0.06384	0.2937032	-0.89986011206412	0.12097	0.6203104	0.999987791652937	0.51787	0.627647	0.40530	0	0.52208	0.09955	0	0.685571	0.62057	0	0.657601	0.63696	0	.	.	5.5	-0.275	0.12268	1.238000	0.32310	-0.030000	0.12807	-0.871000	0.02547	0.772000	0.29380	0.006000	0.19429	0.011000	0.09372	0.0:0.8235:0.0:0.1765	12.250	0.53910	732	0.54084	.	.	.	.	.	.	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	1166.98	43	chr2	28869707	.	T	C	1166.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.266e+00;DP=818;ExcessHet=0.0000;FS=3.455;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.24;ReadPosRankSum=-9.870e-01;SOR=0.440	GT:AD:DP:GQ:PL	0/1:66,48:114:99:1181,0,1964	20	0	1	0
chr2	28870277	28870277	T	C	exonic	TRMT61B	.	startloss	TRMT61B:NM_017910:exon1:c.A1G:p.M1?,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.112	B	0.069	B	0.100	N	1.000	N	.	.	0.97	T	-1.049	T	0.043	T	0.866	2.096	12.96	-2.69	-0.509	0.457	1.306	0.237	.	0.0005	0.00119808	0.0002	0.0020	0	0.0003	0	1.928e-05	0	0	0.0001876	29	154602	rs139528725	9.631e-05	9.645e-05	0.0001	7.659e-05	0.0023	8.299e-05	7.75e-05	0.0019	0.0017	0.0023	0.0005	0	0.0002	0	0.0002	8.295e-06	0.0005	0	0.0005	0.0005	0.0004	0.0005	0.0015	0.0004	0.0003	0.0012	0.0011	0.0015	0	0.0005	0	0	0	0	0	0	0	0.0	0.91255	D	0.035	0.52389	D	0.068	0.23728	B	0.031	0.21939	B	0.100077	0.19904	N	0.366329	1	0.08975	N	.	.	.	0.97	0.42502	T	-0.62	0.18248	N	0.804	0.79986	-1.0493	0.14593	T	0.043	0.18368	T	9	0.07175657	0.10621	T	0.013013	0.32072	T	0.237	0.54074	.	.	0.409398589964	0.40557	0.2936005066418663	0.29273	.	.	.	.	.	0.015961	0.13288	T	-0.0650345	0.42116	T	0.103727	0.77154	D	0.104045726150621	0.12796	T	0.9	0.65058	D	0.70207334	0.78170	0.45139396	0.68080	0.70207334	0.78171	0.45139396	0.68081	-7.597	0.58290	D	.	.	.	.	.	.	.	1.136150	0.15231	11.69	0.55410021359077177	0.05336	0.02164	0.06352	N	ALL	0.016552	0.00379	N	-1.07585047627906	0.07090	0.3283606	-1.16981480625648	0.06419	0.3089455	1.0	0.98316	0.024636	0.00146	3	0.374146	0.05931	1	0.239995	0.05000	1	0.56214	0.19341	0	.	.	4.83	-2.69	0.05668	0.284000	0.18624	0.530000	0.19240	-0.204000	0.08590	0.037000	0.20830	0.355000	0.24491	0.001000	0.02609	0.2862:0.0857:0.2951:0.333	1.306	0.01963	732	0.54084	.	.	.	.	.	.	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	888.98	43	chr2	28870277	.	T	C	888.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.52;DP=818;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.33;ReadPosRankSum=-8.880e-01;SOR=0.846	GT:AD:DP:GQ:PL	0/1:30,28:58:99:903,0,877	20	0	1	0
chr2	33347499	33347499	G	A	exonic	LTBP1	.	nonsynonymous SNV	LTBP1:NM_001166264:exon21:c.G2885A:p.R962Q	.	YES	430	1028	59	5	0	69	0.0324706	.	.	719865	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.35	T	0.993	D	0.825	P	.	.	0.992	D	1.385	L	-1.33	T	-0.299	T	0.443	T	0.41	2.992	15.98	3.32	0.605	-0.232	5.496	0.329	.	0.0048	0.00239617	0.0046	0.0010	0.0027	0	0.0011	0.0059	0.0110	0.0064	0.0044113	682	154602	rs141080282	0.0046	0.0046	0.0045	0.0048	0.0326	0.0045	0.0045	0.0288	0.0273	0.0015	0.0041	0.0065	2.519e-05	0.0008	0.0326	0.0047	0.0060	0.0062	0.0044	0.0044	0.0046	0.0042	0.0083	0.0041	0.0040	0.0071	0.0067	0.0009	0	0.0083	0.0069	0	0.0008	0.0272	0.0061	0.0095	0.0056	0.007	0.61437	D	0.089	0.46862	T	0.937	0.65571	P	0.361	0.59331	B	.	.	.	.	0.986415	0.41471	D	0.84	0.21119	L	-1.45	0.81559	T	-1.77	0.53577	N	0.17	0.23506	-0.2989	0.75015	T	0.443	0.78020	T	9	0.0047613382	0.00101	T	.	.	.	0.329	0.65126	.	.	0.20808081866	0.20439	0.5008590233587867	0.50007	0.166082223785	0.18743	0.329884946346	0.14917	T	0.154079	0.49521	T	-0.302344	0.08439	T	-0.203068	0.54355	T	0.0117555559307881	0.00181	T	0.90461	0.67274	D	0.0548804	0.10592	0.079973504	0.18051	0.0548804	0.10591	0.079973504	0.18050	-3.652	0.18715	T	.	.	0.084	0.12750	B	.;.;.;.;.;.	.;.;.;.;.;.	3.092193	0.41643	21.4	0.9962135397256433	0.75413	0.58970	0.30787	D	AEFBI	0.116140	0.22806	N	-0.261098715989665	0.30663	1.711816	-0.257002608460044	0.29531	1.655216	0.968231963240508	0.29037	0.706548	0.73137	0	0.588015	0.36545	0	0.80507	0.99327	0	0.714379	0.83352	0	.	.	5.19	3.32	0.37134	1.551000	0.35841	7.375000	0.58420	-0.126000	0.13398	0.354000	0.25792	1.000000	0.68203	0.290000	0.24260	0.0741:0.1778:0.6105:0.1376	5.496	0.16096	850	0.35610	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	800.98	38	chr2	33347499	.	G	A	800.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.510;DP=804;ExcessHet=0.0000;FS=0.881;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.27;ReadPosRankSum=-2.070e-01;SOR=0.830	GT:AD:DP:GQ:PL	0/1:44,34:78:99:815,0,1107	20	0	1	0
chr2	36759118	36759118	G	A	exonic	VIT	.	nonsynonymous SNV	VIT:NM_001177972:exon6:c.G559A:p.G187R,	.	.	432	1089	1	0	0	1	0.000458926	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.179	B	0.017	B	.	.	1.000	N	.	.	-2.96	D	-0.609	T	0.424	T	0.036	0.134	4.719	0.082	-0.008	0.115	6.441	0.064	.	.	0.00419329	0.0035	0.0178	0.0043	0	0.0006	0.0026	0.0046	0.0003	0.0031565	488	154602	rs61738664	0.0027	0.0027	0.0027	0.0026	0.0167	0.0026	0.0026	0.0156	0.0151	0.0167	0.0029	0.0134	0	0.0004	0.0045	0.0023	0.0031	0.0003	0.0061	0.0061	0.0066	0.0056	0.0166	0.0058	0.0056	0.0156	0.0152	0.0166	0	0.0029	0.0081	0	0.0005	0	0.0022	0.0033	0.0002	0.0	0.91255	D	0.261	0.22962	T	0.179	0.28995	B	0.017	0.18140	B	.	.	.	.	1	0.08975	N	.	.	.	-2.96	0.91956	D	0.55	0.02721	N	0.047	0.01911	-0.6087	0.64458	T	0.424	0.76803	T	7	0.002786398	0.00044	T	.	.	.	0.064	0.18567	0.249	0.18602	0.390220360785	0.38632	.	.	.	.	.	.	.	.	.	.	-0.468775	0.00865	T	-0.431859	0.29724	T	0.00352116173033478	0.00037	T	0.305069	0.05837	T	.	.	.	.	.	.	.	.	-3.586	0.17654	T	.	.	0.079	0.07224	B	.	.	0.634075	0.10023	6.777	0.91349537258002655	0.20612	0.02812	0.07541	N	AEFBI	0.038326	0.05408	N	-1.04401761823623	0.07705	0.3588714	-1.13072845512468	0.07119	0.3450885	0.988321888253336	0.31478	0.554377	0.28877	0	0.59043	0.45803	0	0.547309	0.15389	0	0.567892	0.33627	0	.	.	3.92	0.082	0.13737	0.021000	0.13381	-0.289000	0.10208	-0.718000	0.03832	0.000000	0.06391	0.000000	0.08366	0.009000	0.08673	0.445:0.0:0.555:0.0	6.441	0.21051	742	0.52873	.	.	.	.	.	.	Likely benign	0	0	0	0	0	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	1335.98	35	chr2	36759118	.	G	A	1335.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.349;DP=812;ExcessHet=0.0000;FS=1.726;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.52;ReadPosRankSum=0.650;SOR=0.484	GT:AD:DP:GQ:PL	0/1:40,52:92:99:1350,0,971	20	0	1	0
chr2	38071251	38071251	C	T	exonic	CYP1B1	.	nonsynonymous SNV	CYP1B1:NM_000104:exon3:c.G1103A:p.R368H,	Anterior segment dysgenesis 6, multiple subtypes;Glaucoma 3A, primary open angle, congenital, juvenile, or adult onset, Autosomal recessive	YES	0	1399	110	13	0	136	0.0463531	.	.	22778	not_provided|Irido-corneo-trabecular_dysgenesis|Glaucoma_3A|not_specified|Congenital_ocular_coloboma|Congenital_glaucoma|Myopathy,_centronuclear,_5|Anterior_segment_dysgenesis_6|CYP1B1-related_disorder|Glaucoma,_early-onset,_digenic	MedGen:C3661900|Human_Phenotype_Ontology:HP:0000659,MONDO:MONDO:0011414,MedGen:C0344559,OMIM:604229,Orphanet:708|MONDO:MONDO:0009277,MedGen:C1856439,OMIM:231300,Orphanet:98976,Orphanet:98977|MedGen:CN169374|Human_Phenotype_Ontology:HP:0000589,Human_Phenotype_Ontology:HP:0007767,Human_Phenotype_Ontology:HP:0007995,MONDO:MONDO:0001476,MedGen:C0009363,Orphanet:194|MONDO:MONDO:0020366,MedGen:C0020302|MONDO:MONDO:0014418,MedGen:C4014814,OMIM:615959,Orphanet:169186|MONDO:MONDO:0015016,MedGen:C4310623,OMIM:617315|MedGen:CN239260|MedGen:C4016760	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0	D	1.0	D	0.978	D	0.000	D	1.000	A	2.695	M	-0.56	T	0.251	D	0.577	D	0.897	4.585	24.9	5.65	2.657	7.675	17.194	0.751	.	0.0016	0.00419329	0.0062	0.0004	0.0033	0	0	0.0029	0.0138	0.0294	0.0050646	783	154602	rs79204362	0.0032	0.0032	0.0022	0.0043	0.0311	0.0032	0.0031	0.0302	0.0298	0.0005	0.0021	0.0205	5.038e-05	7.643e-05	0.0236	0.0009	0.0041	0.0311	0.0020	0.0020	0.0016	0.0025	0.0245	0.0018	0.0018	0.0209	0.0195	0.0005	0	0.0012	0.0179	0	0	0.0205	0.0011	0.0047	0.0245	.	.	.	0.01	0.65728	D	.	.	.	.	.	.	0.000000	0.84330	D	0.050909	0.999999	0.58761	A	3.06	0.86941	M	.	.	.	.	.	.	0.819	0.85132	0.251	0.86759	D	0.577	0.84738	D	9	0.009640098	0.00217	T	.	.	.	.	.	.	.	0.341696514166	0.33777	0.8175150785253305	0.81708	.	.	0.417915016413	0.27551	T	0.59259	0.86824	D	0.0961558	0.63873	D	0.388342	0.91724	D	0.0597581842735867	0.07131	T	0.933807	0.75196	D	0.90570295	0.91898	0.68082505	0.81245	0.8872861	0.90276	0.8142974	0.89175	-9.232	0.69178	D	.	.	0.200	0.42404	B	.;.	.;.	5.330663	0.89461	30	0.99942312783438658	0.99824	0.96543	0.69666	D	AEFDGBCI	0.942825	0.94789	D	0.728153233663213	0.81478	7.531585	0.629670928743175	0.77105	6.615648	1.0	0.98316	0.542737	0.22433	0	0.685571	0.66316	0	0.401104	0.06395	2	0.530356	0.10902	0	.	.	5.65	5.65	0.86881	7.798000	0.84489	7.710000	0.66754	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.952000	0.50033	0.0:1.0:0.0:0.0	17.194	0.86768	914	0.21048	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	6219.11	34	chr2	38071251	.	C	T	6219.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=3.37;DP=1312;ExcessHet=0.1072;FS=1.103;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=12.05;ReadPosRankSum=1.33;SOR=0.599	GT:AD:DP:GQ:PL	0/1:121,99:220:99:2552,0,2841	19	0	2	0
chr2	61278196	61278196	T	C	exonic	USP34	.	nonsynonymous SNV	USP34:NM_014709:exon41:c.A5402G:p.K1801R,	.	.	433	1088	1	0	0	1	0.000459348	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.48	T	0.956	P	0.899	P	0.000	D	1.000	D	0	N	3.87	T	-0.754	T	0.018	T	0.563	2.802	15.33	5.48	2.086	7.784	14.138	0.210	0.0295439168877	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1275310940	2.738e-06	3.42e-06	1.362e-06	4.128e-06	0.0002	6.4e-07	4.3e-07	9.25e-06	4.57e-06	0	0	0	0	0	0.0002	0	0	3.483e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.281	0.17881	T	0.389	0.15794	T	0.956	0.54666	P	0.899	0.63802	P	0.000002	0.62929	D	0.100608	0.999839	0.49637	D	0.895	0.22405	L	3.87	0.04014	T	-0.76	0.23372	N	0.626	0.64052	-0.7540	0.57726	T	0.018	0.07518	T	10	0.27412248	0.44964	T	0.029544	0.52036	D	0.210	0.50028	0.312	0.28612	0.165150595986	0.16160	0.290690053592184	0.28982	.	.	0.696317613125	0.66612	T	0.030537	0.21621	T	-0.0817857	0.39425	T	-0.355256	0.38600	T	0.837724328041077	0.49142	D	0.959204	0.85148	D	0.17884491	0.38926	0.15904209	0.37110	0.17884491	0.38926	0.15904209	0.37109	-4.518	0.31123	T	.	.	0.090	0.12465	B	.;.	.;.	3.845521	0.55678	23.6	0.99477594172368244	0.66687	0.98503	0.83469	D	AEFGBI	0.882492	0.81064	D	0.395285995723719	0.61165	4.314108	0.484238090908338	0.66947	5.018586	0.999999980507074	0.74766	0.722319	0.85440	0	0.724815	0.89359	0	0.698795	0.65105	0	0.714379	0.83352	0	.	.	5.48	5.48	0.80675	7.798000	0.84489	7.845000	0.70699	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.0:0.0:0.0:1.0	14.138	0.64833	213	0.91726	.;.	.	.	.	.	.	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	997.98	33	chr2	61278196	.	T	C	997.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.900e-02;DP=779;ExcessHet=0.0000;FS=0.769;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.60;ReadPosRankSum=0.157;SOR=0.560	GT:AD:DP:GQ:PL	0/1:64,40:104:99:1012,0,1742	20	0	1	0
chr2	68380846	68380846	A	C	exonic	PLEK	.	nonsynonymous SNV	PLEK:NM_002664:exon3:c.A322C:p.K108Q,	.	.	429	1073	19	1	0	21	0.00969082	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3	T	0.799	P	0.154	B	0.000	D	0.998	D	0.805	L	2.09	T	-1.064	T	0.031	T	0.301	2.555	14.50	5.8	2.220	5.823	12.643	0.070	.	0.0006	0.00898562	0.0072	0.0004	0.0010	0	0	0.0016	0.0044	0.0448	0.0061642	953	154602	rs34515106	0.0034	0.0034	0.0023	0.0045	0.0416	0.0033	0.0033	0.0404	0.0400	8.964e-05	0.0007	0.0246	7.558e-05	5.616e-05	0.0029	0.0004	0.0047	0.0416	0.0023	0.0023	0.0016	0.0029	0.0414	0.0021	0.0020	0.0367	0.0349	0.0001	0	0.0005	0.0236	0.0002	0	0	0.0007	0.0009	0.0414	0.34	0.12714	T	0.245	0.24054	T	0.546	0.38028	P	0.154	0.34351	B	0.000007	0.62929	D	0.176415	0.998056	0.44459	D	1.445	0.36358	L	2.09	0.20122	T	-0.83	0.22727	N	0.295	0.33360	-1.0637	0.10855	T	0.031	0.13418	T	10	0.004865825	0.00104	T	.	.	.	0.070	0.20419	.	.	0.617017443408	0.61392	0.41767449752869146	0.41683	0.226157206265	0.25167	0.572419404984	0.49020	T	0.146341	0.48389	T	-0.494014	0.00618	T	-0.451693	0.27511	T	0.0243076559245668	0.01183	T	0.948605	0.80233	D	0.24333003	0.47270	0.088147804	0.20533	0.24333003	0.47270	0.088147804	0.20533	-4.34	0.28734	T	.	.	0.121	0.25034	B	.	.	3.326929	0.45779	22.2	0.97958558228684089	0.37158	0.92082	0.54905	D	AEFBCI	0.873794	0.79633	D	0.20340031234684	0.51364	3.318211	0.353056940264651	0.58690	4.041289	0.999999991328986	0.74766	0.722319	0.85440	0	0.698795	0.70079	0	0.573888	0.23631	0	0.530356	0.10902	0	.	.	5.8	5.8	0.92081	5.808000	0.68834	11.185000	0.88454	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.8621:0.1378:0.0:0.0	12.643	0.56079	564	0.70960	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	1422.98	42	chr2	68380846	.	A	C	1422.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.17;DP=836;ExcessHet=0.0000;FS=1.677;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.14;ReadPosRankSum=-7.080e-01;SOR=0.876	GT:AD:DP:GQ:PL	0/1:45,49:94:99:1437,0,1224	20	0	1	0
chr2	70165566	70165566	A	G	exonic	C2orf42	.	nonsynonymous SNV	C2orf42:NM_001348762:exon6:c.T1214C:p.I405T	.	.	434	1070	17	1	0	19	0.00880037	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.27	T	0.0	B	0.0	B	0.007	N	0.999	N	0	N	-3.11	D	-0.556	T	0.477	T	0.227	1.039	9.244	4.78	1.035	3.032	7.926	0.237	0.0231983318661	0.0006	.	0.0006	0.0004	0.0003	0	0.0005	0.0008	0.0011	0.0004	0.0005175	80	154602	rs141556112	0.0005	0.0005	0.0005	0.0005	0.0023	0.0005	0.0005	0.0013	0.0011	5.978e-05	0.0008	0.0038	0	0.0006	0.0023	0.0004	0.0008	0.0005	0.0006	0.0006	0.0006	0.0006	0.0008	0.0005	0.0005	0.0006	0.0005	0.0001	0	0.0008	0.0026	0	0.0008	0.0034	0.0007	0.0009	0.0006	0.312	0.13925	T	0.345	0.17750	T	0.0	0.02946	B	0.0	0.01387	B	0.006684	0.31864	N	0.384634	0.999295	0.21398	N	1.1	0.28011	L	-3.11	0.92721	D	-0.65	0.18877	N	0.263	0.29774	-0.5558	0.66565	T	0.477	0.79951	T	10	0.013486892	0.00286	T	0.023198	0.46147	T	0.237	0.54074	.	.	0.401612077098	0.39776	0.27772408757463524	0.27685	0.365847165232	0.38172	.	.	.	0.001332	0.00808	T	-0.255146	0.13474	T	-0.21339	0.53370	T	0.0138790596904748	0.00264	T	0.820318	0.47908	T	0.083425455	0.19265	0.056905832	0.10251	0.083425455	0.19264	0.056905832	0.10250	-3.156	0.11951	T	.	.	0.091	0.13268	B	.;.	.;.	2.355835	0.30207	18.37	0.89540714906392593	0.18885	0.86786	0.46143	D	AEFBI	0.120944	0.23537	N	-0.35118635961709	0.27229	1.492223	-0.130954576090902	0.34150	1.961153	0.0210036068862418	0.13311	0.651	0.46895	0	0.708844	0.79440	0	0.608884	0.39905	0	0.635551	0.53088	0	.	.	5.96	4.78	0.60666	3.057000	0.49624	4.599000	0.43989	0.756000	0.94297	0.837000	0.30238	1.000000	0.68203	0.998000	0.85391	0.7901:0.1371:0.0729:0.0	7.926	0.29034	428	0.80967	.;.	.	.	.	.	.	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	1051.98	34	chr2	70165566	.	A	G	1051.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.720e-01;DP=775;ExcessHet=0.0000;FS=1.705;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.95;ReadPosRankSum=2.55;SOR=0.529	GT:AD:DP:GQ:PL	0/1:43,45:88:99:1066,0,1076	20	0	1	0
chr2	71681053	71681053	G	A	exonic	DYSF	.	nonsynonymous SNV	DYSF:NM_001130976:exon52:c.G5957A:p.R1986Q	Miyoshi muscular dystrophy 1, Autosomal recessive;Muscular dystrophy, limb-girdle, type 2B, Autosomal recessive;Myopathy, distal, with anterior tibial onset, Autosomal recessive	.	0	1518	4	0	0	4	0.00131579	.	.	272053	Miyoshi_muscular_dystrophy_1|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2B|not_provided|Qualitative_or_quantitative_defects_of_dysferlin|DYSF-related_disorder|Primary_dilated_cardiomyopathy|not_specified	MONDO:MONDO:0024545,MedGen:C4551973,OMIM:254130,Orphanet:45448|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601,Orphanet:268|MedGen:C3661900|MONDO:MONDO:0016145,MedGen:C2931687,Orphanet:207073|.|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	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.08	T	1.0	D	0.999	D	0.000	D	1.000	D	1.9	L	-1.74	D	0.366	D	0.689	D	0.747	5.305	34	5.92	2.804	7.916	17.815	0.734	0.182813210755	7.7e-05	0.000798722	0.0003	9.762e-05	0.0003	0	0.0002	0.0004	0.0011	0.0003	0.0003105	48	154602	rs115407852	0.0002	0.0002	0.0002	0.0002	0.0052	0.0002	0.0002	0.0037	0.0033	0.0003	0.0005	0.0002	0	0	0.0052	0.0002	0.0004	0.0003	0.0002	0.0002	0.0003	0.0002	0.0004	0.0002	0.0001	0.0002	0.0002	4.811e-05	0	0.0003	0	0	0	0.0068	0.0003	0.0009	0.0004	0.003	0.72154	D	0.004	0.74150	D	1.0	0.90584	D	0.992	0.92359	D	0.000000	0.84330	D	0.000000	0.999852	0.49910	D	3.105	0.87672	M	-1.74	0.83413	D	-3.29	0.65742	D	0.875	0.92550	0.366	0.88577	D	0.689	0.89261	D	10	0.55206025	0.64311	D	0.182813	0.85645	D	0.734	0.90721	.	.	0.856121452604	0.85473	0.8003969803646807	0.79993	0.684356733275	0.60216	0.498260140419	0.38585	T	0.872279	0.97251	D	0.0409565	0.57170	T	0.155205	0.80512	D	0.252051460036843	0.22964	T	0.987601	0.95770	D	0.8588213	0.87996	0.68785614	0.81639	0.81976295	0.85205	0.6852142	0.81493	-5.625	0.43020	T	0.7333304895901095	0.81509	0.215	0.44809	B	.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.	4.880106	0.80021	27.2	0.99955153474776592	0.99969	0.98047	0.79151	D	AEFDBI	0.945882	0.95469	D	0.843869428047154	0.88756	9.699652	0.853233525247911	0.93203	11.89018	0.999999788427813	0.74766	0.706298	0.61202	0	0.563428	0.19063	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.92	5.92	0.95557	8.041000	0.89198	.	.	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.988000	0.63387	0.0:0.0:1.0:0.0	17.815	0.88542	610	0.67008	.;.;.;.;Ferlin, C-terminal domain;.;.;.;.;.;.	.	.	.	.	.	Likely pathogenic	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1986.98	35	chr2	71681053	.	G	A	1986.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.71;DP=881;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.90;ReadPosRankSum=-5.900e-01;SOR=0.728	GT:AD:DP:GQ:PL	0/1:88,79:167:99:2001,0,2107	20	0	1	0
chr2	73081099	73081101	TCC	-	exonic	RAB11FIP5	.	nonframeshift deletion	RAB11FIP5:NM_001371272:exon4:c.2131_2133del:p.G712del,	.	.	481	755	173	66	47	352	0.168044	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1905	1438.94	11	chr2	73081095	.	TTCCTCC	T,TTCC	1438.94	.	AC=6,2;AF=0.143,0.048;AN=42;BaseQRankSum=0.812;DP=242;ExcessHet=3.5521;FS=2.847;InbreedingCoeff=-0.2414;MLEAC=6,2;MLEAF=0.143,0.048;MQ=60.00;MQRankSum=0.00;QD=16.54;ReadPosRankSum=0.180;SOR=0.993	GT:AD:DP:GQ:PL	0/1:6,9,0:15:99:360,0,204,378,232,610	13	0	6	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	1/1:0,40,0,0,0,0:40:99:1687,120,0,1688,120,1688,1688,120,1688,1688,1688,120,1688,1688,1688,1688,120,1688,1688,1688,1688	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	1/1:0,40,0,0,0,0:40:99:1687,120,0,1688,120,1688,1688,120,1688,1688,1688,120,1688,1688,1688,1688,120,1688,1688,1688,1688	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	1/1:0,40,0,0,0,0:40:99:1687,120,0,1688,120,1688,1688,120,1688,1688,1688,120,1688,1688,1688,1688,120,1688,1688,1688,1688	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	1/1:0,40,0,0,0,0:40:99:1687,120,0,1688,120,1688,1688,120,1688,1688,1688,120,1688,1688,1688,1688,120,1688,1688,1688,1688	0	4	5	0
chr2	73450755	73450755	G	C	exonic	ALMS1	.	nonsynonymous SNV	ALMS1:NM_001378454:exon8:c.G4228C:p.A1410P	Alstrom syndrome, Autosomal recessive	.	0	1516	6	0	0	6	0.00197498	.	.	518725	not_specified|not_provided|Alstrom_syndrome|Cardiovascular_phenotype	MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0008763,MedGen:C0268425,OMIM:203800,Orphanet:64|MedGen:CN230736	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.2	T	0.002	B	0.004	B	0.341	N	1.000	N	1.32	L	3.04	T	-1.020	T	0.036	T	0.407	1.902	12.32	-4.64	-1.097	-5.431	2.348	0.034	0.00335238166928	0.0002	.	0.0001	0.0001	8.646e-05	0	0	0.0002	0.0011	0	0.00011	17	154602	rs201517720	0.0002	0.0002	0.0002	0.0002	0.0045	0.0002	0.0002	0.0032	0.0027	0.0003	0.0002	0.0002	0	0.0002	0.0045	0.0002	0.0004	3.479e-05	0.0002	0.0002	0.0002	0.0003	0.0003	0.0002	0.0002	0.0002	0.0001	0.0003	0	0.0002	0	0	9.634e-05	0.0035	0.0002	0.0014	0	.	.	.	0.033	0.53072	D	.	.	.	.	.	.	0.341122	0.04188	N	1.475930	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.115	0.10483	-1.0199	0.23747	T	0.036	0.15422	T	10	0.043635845	0.03233	T	0.003352	0.07482	T	.	.	.	.	0.0666544352282	0.05500	0.09458552394916472	0.09390	.	.	0.217593073845	0.01175	T	0.030933	0.21808	T	-0.343857	0.05125	T	-0.438216	0.29010	T	0.0151528957104302	0.00330	T	0.531147	0.17633	T	0.055210277	0.10700	0.05998265	0.11350	0.055210277	0.10699	0.05998265	0.11349	-5.986	0.46163	T	.	.	0.208	0.43503	B	.;.;.	.;.;.	-0.709755	0.01299	0.070	0.96518451477105494	0.30105	0.01323	0.04570	N	AEFBI	0.061240	0.11693	N	-1.341008907698	0.03219	0.1434229	-1.47231360268252	0.02574	0.1186074	0.999234669968735	0.38840	0.706548	0.73137	0	0.71359	0.82159	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	3.85	-4.64	0.03109	-4.109000	0.00332	-20.000000	0.00162	-1.066000	0.01605	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.2844:0.4129:0.183:0.1196	2.348	0.04016	492	0.76569	.;.;.	.	.	.	.	.	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	0.04762	7564.11	35	chr2	73450755	.	G	C	7564.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-3.418e+00;DP=3682;ExcessHet=0.1072;FS=1.733;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=12.50;ReadPosRankSum=1.19;SOR=0.824	GT:AD:DP:GQ:PL	0/1:176,169:345:99:4445,0,4781	19	0	2	0
chr2	88185439	88185439	G	A	exonic	THNSL2	.	nonsynonymous SNV	THNSL2:NM_018271:exon8:c.G1189A:p.V397M,	.	.	428	1093	1	0	0	1	0.000457247	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	1.0	D	0.985	D	0.001	D	1.000	D	2.36	M	-4.25	D	0.918	D	0.926	D	0.445	5.037	29.8	5.8	2.741	6.508	19.051	0.753	.	0.0002	0.00299521	0.0015	0	0.0001	0.0182	0.0005	0.0002	0	0.0003	0.0011319	175	154602	rs144146961	0.0004	0.0004	0.0004	0.0004	0.0109	0.0003	0.0003	0.0100	0.0097	0	8.968e-05	0	0.0109	0.0002	0.0002	4.588e-05	0.0006	0.0002	0.0005	0.0005	0.0004	0.0006	0.0130	0.0004	0.0003	0.0105	0.0096	0	0	0	0	0.0130	0	0	2.94e-05	0	0.0002	0.004	0.65419	D	0.006	0.70582	D	1.0	0.90584	D	0.985	0.76457	D	0.000698	0.42383	D	0.194962	0.993499	0.81001	D	2.33	0.66821	M	-4.25	0.97054	D	-2.33	0.51646	N	0.548	0.57433	0.918	0.95928	D	0.926	0.97547	D	10	0.009332508	0.00211	T	.	.	.	0.753	0.91541	.	.	0.703637343589	0.70106	0.6513602490772512	0.65072	0.458079838769	0.45429	0.375926941633	0.21678	T	0.664787	0.89983	D	-0.123861	0.32493	T	0.0616303	0.74353	D	0.081638284067154	0.10196	T	0.937806	0.76632	D	0.23624004	0.46471	0.30033103	0.56067	0.23624004	0.46471	0.30033103	0.56066	-9.29	0.69544	D	.	.	0.334	0.55480	B	.	.	4.846013	0.79160	27.0	0.99913686364907106	0.98238	0.98501	0.83448	D	AEFBI	0.724562	0.67383	D	0.845816301261772	0.88870	9.743376	0.824387930033011	0.91435	10.88533	0.999999994842712	0.74766	0.615465	0.37627	0	0.610034	0.51514	0	0.658983	0.55881	0	0.564101	0.26826	0	.	.	5.8	5.8	0.92081	6.690000	0.74396	.	.	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.859000	0.40722	0.0:0.0:1.0:0.0	19.051	0.93028	946	0.12043	Pyridoxal-phosphate dependent enzyme	.	.	.	.	.	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	1154.98	44	chr2	88185439	.	G	A	1154.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.23;DP=853;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.59;ReadPosRankSum=-1.337e+00;SOR=0.778	GT:AD:DP:GQ:PL	0/1:44,41:85:99:1169,0,1053	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|1:246,20:266:99:0|1:94876587_C_A:99,0,10196:94876587	6	0	15	0
chr2	94876599	94876599	C	T	exonic	TEKT4	.	stopgain	TEKT4:NM_001286559:exon6:c.C592T:p.R198X	.	.	433	945	144	0	0	144	0.0707965	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.45	T	.	.	.	.	0.451	N	1.000	D	.	.	.	.	.	.	.	.	.	2.179	13.24	-4.85	-0.463	-0.054	8.126	.	.	.	0.000199681	1.007e-05	0	0	0	0	0	0	7.452e-05	1.29e-05	2	154602	rs545808608	1.37e-05	1.573e-05	1.227e-05	1.515e-05	0.0002	8.95e-06	7.27e-06	1.586e-05	9.32e-06	2.988e-05	2.241e-05	0	0	0	0.0002	8.097e-06	6.627e-05	4.654e-05	1.971e-05	1.969e-05	0	4.03e-05	0.0002	5.24e-06	2.45e-06	.	.	2.406e-05	0	0	0	0	0	0	1.47e-05	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	0.450852	0.12509	N	0.736301	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.036	0.01068	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.471834	0.93405	D	0.439981	0.93322	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive	High	7.228656	0.96291	35	0.97017541695677512	0.32010	0.24513	0.22417	N	AEFDGBI	0.102425	0.20547	N	0.0223710035112601	0.42872	2.591521	-0.371233761802137	0.25859	1.424696	0.00857241372916873	0.11701	0.517182	0.21443	0	0.588066	0.40923	0	0.478664	0.07449	1	0.562822	0.20929	0	.	.	2.43	-4.85	0.02911	0.076000	0.14570	1.506000	0.26990	0.302000	0.18967	0.898000	0.31380	0.817000	0.27092	0.256000	0.23417	0.7115:0.2885:0.0:0.0	8.126	0.30157	.	.	.	.	.	.	.	.	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	365.45	249	chr2	94876599	.	C	T	365.45	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-7.780e-01;DP=4617;ExcessHet=0.1072;FS=3.828;InbreedingCoeff=-0.0598;MLEAC=2;MLEAF=0.048;MQ=58.11;MQRankSum=-1.569e+01;QD=0.64;ReadPosRankSum=-1.991e+00;SOR=1.224	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:268,26:294:99:0|1:94876587_C_A:285,0,11175:94876587	19	0	2	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|1:283,46:329:99:0|1:94876587_C_A:1080,0,11745:94876587	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|1:304,58:362:99:0|1:94876587_C_A:1520,0,12507:94876587	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|1:350,66:416:99:0|1:94876670_C_T:1718,0,14395:94876670	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|1:353,66:419:99:0|1:94876670_C_T:1709,0,14456:94876670	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	0/1:343,44:387:99:.:.:716,0,8857	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|1:345,37:382:99:0|1:94876737_C_A:515,0,14326:94876737	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|1:340,37:377:99:0|1:94876737_C_A:530,0,14158:94876737	9	0	12	0
chr2	95480320	95480320	C	A	exonic	TRIM43B	.	nonsynonymous SNV	TRIM43B:NM_001164464:exon4:c.G723T:p.E241D,	.	.	.	.	.	.	.	.	.	.	.	2341767	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.608e-05	0.0003	0	0	0	2.166e-05	0	0	0.0030736	80	26028	rs370698848	0.0012	0.0018	0.0013	0.0012	0.0117	0.0012	0.0011	0.0107	0.0104	0.0117	0.0022	0.0010	0.0008	0.0040	0.0014	0.0008	0.0021	0.0004	0.0051	0.0094	0.0052	0.0050	0.0137	0.0048	0.0047	0.0127	0.0123	0.0137	0	0.0036	0.0003	0.0008	0.0039	0.0103	0.0017	0.0019	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-2.96	0.00015	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0042305887	0.00085	T	.	.	.	.	.	.	.	.	.	0.022551735228837272	0.02207	.	.	0.635599792004	0.57939	T	0.003376	0.02778	T	.	.	.	.	.	.	.	.	.	0.039796	0.00275	T	0.05410032	0.10333	0.10459108	0.25124	0.05410032	0.10333	0.10459108	0.25123	-1.495	0.01754	T	.	.	0.058	0.01786	B	.;.	.;.	0.000528	0.04287	1.073	0.79696326801882411	0.12859	0.00032	0.00291	N	AEFI	.	.	.	.	.	.	.	.	.	1.25226630243118E-6	0.01202	0.061011	0.01085	0	0.063388	0.01293	0	0.063197	0.01477	0	0.057018	0.00518	0	0.0455939	0.04545	1.38	-0.00655	0.13336	-1.651000	0.02091	-15.654000	0.00347	-0.425000	0.05218	0.000000	0.06391	0.000000	0.08366	0.365000	0.25999	0.5112:0.2896:0.1992:0.0	2.471	0.04286	489	0.76795	.;.	.	.	.	.	.	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	54.98	39	chr2	95480320	.	C	A	54.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.21;DP=783;ExcessHet=0.0000;FS=21.733;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=46.85;MQRankSum=-5.454e+00;QD=0.55;ReadPosRankSum=-1.950e+00;SOR=4.228	GT:AD:DP:GQ:PL	0/1:89,11:100:69:69,0,2378	20	0	1	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	0/1:185,57:242:99:.:.:1236,0,5206	0	0	21	0
chr2	95855406	95855406	C	G	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon84:c.G5953C:p.D1985H,	.	.	432	686	404	0	0	404	0.227477	.	.	679191	not_provided|Peritoneal_Gliomatosis	MedGen:C3661900|MedGen:C2938915	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.33	T	.	.	.	.	.	.	1.000	N	0.235	N	2.59	T	-0.942	T	0.018	T	0.062	0.675	7.614	-0.833	0.028	1.770	6.110	0.033	.	.	.	0.0207	0.0594	0.0264	0.0384	0.0257	0.0114	0.0158	0.0254	0.0092593	241	26028	rs77972623	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.294	0.14793	T	0.006	0.70582	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	2.59	0.13317	T	1.92	0.00446	N	0.043	0.01577	-0.9422	0.42266	T	0.018	0.07282	T	7	0.0040079057	0.00077	T	.	.	.	0.033	0.08068	.	.	.	.	0.021892873855974753	0.02141	.	.	.	.	.	7.49E-4	0.00347	T	-0.353158	0.04532	T	-0.745064	0.03682	T	0.0110150628429415	0.00159	T	0.357964	0.08163	T	0.04395806	0.06944	0.059117828	0.11040	0.04395806	0.06944	0.059117828	0.11039	-2.163	0.03865	T	.	.	0.356	0.56978	A	.	.	1.452510	0.18737	13.90	0.61318576741591302	0.06679	0.06233	0.12222	N	AEFI	0.034264	0.04212	N	-0.644002368178195	0.17635	0.9091262	-0.743295799460967	0.15887	0.8377953	9.51251238247756E-6	0.01202	0.656854	0.48797	0	0.653731	0.59785	0	0.565031	0.19037	0	0.699908	0.69081	0	.	.	2.64	-0.833	0.10237	1.509000	0.35387	1.837000	0.29159	0.284000	0.18682	1.000000	0.71638	0.009000	0.19889	0.063000	0.16184	0.1431:0.5616:0.2953:0.0	6.110	0.19319	256	0.89942	CCDC144C-like, coiled-coil domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3571	7228.38	236	chr2	95855406	.	C	G	7228.38	.	AC=15;AF=0.357;AN=42;BaseQRankSum=1.43;DP=5612;ExcessHet=17.4423;FS=6.424;InbreedingCoeff=-0.5556;MLEAC=15;MLEAF=0.357;MQ=53.45;MQRankSum=-6.363e+00;QD=1.79;ReadPosRankSum=-3.638e+00;SOR=1.400	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:244,25:269:70:.:.:70,0,9285	6	0	15	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	0/1:177,168:345:99:3652,0,5006	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	0/1:189,102:291:99:.:.:2775,0,5605	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	0/1:240,40:280:99:430,0,9293	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	0/1:193,81:274:99:.:.:2143,0,5799	0	0	21	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|1:121,41:162:99:0|1:95859969_A_AT:1357,0,4917:95859969	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|1:121,41:162:99:0|1:95859969_A_AT:1357,0,4917:95859969	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|1:123,41:164:99:0|1:95859969_A_AT:1351,0,4990:95859969	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	0/1:120,37:157:99:1077,0,3175	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|1:120,32:152:99:0|1:95860002_T_A:962,0,4853:95860002	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|1:121,30:151:99:0|1:95860002_T_A:895,0,4894:95860002	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|1:114,27:141:99:0|1:95860020_G_A:791,0,4666:95860020	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|1:112,25:137:99:0|1:95860020_G_A:713,0,4617:95860020	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	0/1:92,17:109:99:438,0,2511	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|1:130,24:154:99:0|1:95927222_G_GAT:616,0,5386:95927222	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|1:138,34:172:99:0|1:95927222_G_GAT:1012,0,5692:95927222	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|1:148,48:196:99:0|1:95927222_G_GAT:1570,0,6070:95927222	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|1:164,87:251:99:0|1:95927222_G_GAT:3159,0,6624:95927222	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|1:165,120:285:99:0|1:95927222_G_GAT:4491,0,6547:95927222	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|1:174,122:296:99:0|1:95927222_G_GAT:4507,0,6773:95927222	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|1:122,61:183:99:0|1:95929092_T_C:2129,0,4818:95929092	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|1:141,75:216:99:0|1:95929092_T_C:2725,0,5695:95929092	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|1:165,94:259:99:0|1:95929092_T_C:3450,0,6645:95929092	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|1:171,101:272:99:0|1:95929092_T_C:3726,0,6876:95929092	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|1:174,101:275:99:0|1:95929092_T_C:3713,0,6957:95929092	1	0	20	0
chr2	96145198	96145198	C	T	exonic	DUSP2	.	nonsynonymous SNV	DUSP2:NM_004418:exon1:c.G157A:p.A53T,	.	.	430	1090	2	0	0	2	0.00091659	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.51	T	0.835	P	0.298	B	0.001	D	0.689	D	0.605	N	1.79	T	-1.023	T	0.033	T	0.197	1.784	11.92	3.1	0.843	0.452	8.718	0.032	0.0967550393219	.	.	0	0	0	0	.	0	0	0	6.5e-06	1	154602	rs761246392	0.0001	0.0001	0.0001	0.0001	0.0020	0.0001	9.73e-05	0.0011	0.0010	0.0015	0.0006	0	0	0	0.0020	8.71e-05	0.0002	0	0.0002	0.0002	0.0002	0.0002	0.0007	0.0002	0.0002	0.0005	0.0004	0.0007	0	6.594e-05	0	0	0	0	8.888e-05	0	0	1.0	0.00964	T	0.725	0.05256	T	0.835	0.46254	P	0.298	0.40966	B	0.000710	0.42254	D	0.162693	0.68922	0.33310	D	0.44	0.12706	N	1.79	0.25509	T	0.66	0.02297	N	0.05	0.02179	-1.0228	0.22802	T	0.033	0.14203	T	10	0.086061954	0.14591	T	0.096755	0.76657	D	0.032	0.07718	0.446	0.50466	0.536393136767	0.53290	0.2547649638332699	0.25390	1.5778815892	0.88350	0.947378337383	0.99689	D	0.077658	0.35707	T	-0.444862	0.01211	T	-0.572242	0.15245	T	0.13713419261851	0.16026	T	0.534247	0.17838	T	0.08207157	0.18890	0.08623841	0.19965	0.08207157	0.18889	0.08623841	0.19965	-6.663	0.51531	T	.	.	0.125	0.26357	B	.	.	2.722040	0.35608	19.94	0.97427559422719512	0.33911	0.13671	0.17987	N	ALL	0.101571	0.20396	N	-0.177166996322565	0.34087	1.941459	-0.130866376159558	0.34152	1.96139	0.999999999992448	0.74766	0.685219	0.55550	0	0.52208	0.09955	0	0.674405	0.61402	0	0.554799	0.18163	0	.	.	4.02	3.1	0.34780	0.285000	0.18642	1.693000	0.28083	0.495000	0.22486	0.995000	0.38783	1.000000	0.68203	0.562000	0.30459	0.4134:0.5866:0.0:0.0	8.718	0.33584	296	0.88164	Rhodanese-like domain|Rhodanese-like domain|Rhodanese-like domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	590.98	28	chr2	96145198	.	C	T	590.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.679;DP=605;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=21.89;ReadPosRankSum=0.585;SOR=0.793	GT:AD:DP:GQ:PL	0/1:8,19:27:99:605,0,196	20	0	1	0
chr2	96328007	96328007	G	A	exonic	ITPRIPL1	.	nonsynonymous SNV	ITPRIPL1:NM_178495:exon1:c.G1400A:p.R467Q	.	.	429	1086	7	0	0	7	0.00321248	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.67	T	0.144	B	0.022	B	0.447	N	1.000	N	0.895	L	3.01	T	-0.947	T	0.011	T	0.231	-0.327	2.448	2.77	0.451	0.838	1.804	0.033	0.00337433486095	0.0014	0.00199681	0.0008	0.0032	0.0008	0	0	0.0007	0.0033	0.0002	0.0008279	128	154602	rs141148427	0.0006	0.0006	0.0007	0.0006	0.0080	0.0006	0.0006	0.0061	0.0055	0.0035	0.0008	0.0009	0	0	0.0080	0.0006	0.0012	0.0002	0.0014	0.0014	0.0013	0.0014	0.0033	0.0012	0.0011	0.0028	0.0026	0.0033	0.0077	0.0006	0.0009	0	0	0.0102	0.0007	0.0005	0.0002	0.527	0.07521	T	0.251	0.24406	T	0.144	0.27697	B	0.022	0.19653	B	0.446875	0.12557	N	0.634983	0.999992	0.08975	N	0.895	0.22405	L	3.01	0.09075	T	-0.59	0.17624	N	0.126	0.12055	-0.9465	0.41566	T	0.011	0.03996	T	10	0.005902618	0.00132	T	0.003374	0.07542	T	0.046	0.12618	.	.	0.156986980423	0.15292	0.10104610837038452	0.10035	0.170945335344	0.19261	0.257053911686	0.04546	T	0.005315	0.04761	T	-0.56086	0.00251	T	-0.582717	0.14303	T	0.00644270552850098	0.00072	T	0.738626	0.35686	T	0.028520785	0.02202	0.025810607	0.00640	0.028520785	0.02201	0.025810607	0.00640	-3.524	0.17310	T	.	.	0.063	0.05060	B	.;.;.	.;.;.	1.800425	0.22887	15.80	0.74782125670024524	0.10825	0.11896	0.16931	N	AEFBI	0.072021	0.14358	N	-0.691798690135187	0.16253	0.8264908	-0.621315170944539	0.18945	1.014375	0.995120611085639	0.33964	0.732398	0.92422	0	0.653731	0.59785	0	0.743671	0.96076	0	0.567892	0.33627	0	.	.	5.5	2.77	0.31614	0.980000	0.29111	2.796000	0.34824	0.676000	0.76740	0.153000	0.23698	1.000000	0.68203	0.958000	0.51230	0.2314:0.1364:0.4915:0.1406	1.804	0.02890	289	0.88525	.;Mab-21 domain|Mab-21 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	2687.98	35	chr2	96328007	.	G	A	2687.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.62;DP=1172;ExcessHet=0.0000;FS=1.655;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.44;ReadPosRankSum=0.279;SOR=0.825	GT:AD:DP:GQ:PL	0/1:115,101:216:99:2702,0,3026	20	0	1	0
chr2	96704283	96704283	G	A	exonic	FER1L5	.	nonsynonymous SNV	FER1L5:NM_001293083:exon52:c.G5870A:p.R1957H,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	0.479	P	0.131	B	0.010	U	.	.	1.765	L	.	.	-0.835	T	0.103	T	0.376	0.597	7.218	3.04	1.153	1.303	7.462	0.084	.	.	.	9.937e-05	0.0001	0	0	0	0.0002	0	0	0.0001229	19	154602	rs763759424	0.0001	0.0001	9.938e-05	0.0001	0.0009	9.093e-05	8.599e-05	0.0003	0.0002	0.0004	0.0004	0	2.519e-05	1.873e-05	0.0009	9.713e-05	0.0002	0	7.885e-05	7.88e-05	8.993e-05	6.726e-05	0.0001	4.497e-05	3.512e-05	6.802e-05	5.086e-05	4.828e-05	0	0	0	0	0	0	0.0001	0.0005	0	.	.	.	0.149	0.32568	T	.	.	.	.	.	.	0.010059	0.30087	U	0.151685	.	.	.	.	.	.	.	.	.	.	.	.	0.358	0.49511	-0.8353	0.52956	T	0.103	0.37869	T	8	0.13679549	0.26025	T	.	.	.	.	.	0.567	0.68901	0.0716867268079	0.06686	0.3068921989375757	0.30602	.	.	0.277979135513	0.07212	T	.	.	.	-0.0882075	0.38372	T	-0.079767	0.64920	T	0.236832797527313	0.22273	T	0.782022	0.41734	T	0.091518454	0.21446	0.12406943	0.29909	0.091518454	0.21446	0.12406943	0.29908	-4.467	0.30454	T	.	.	0.104	0.21503	B	.;.;.;.	.;.;.;.	2.892439	0.38310	20.7	0.76018642698396033	0.11301	0.63123	0.31991	D	AEFBI	.	.	.	-0.200605363475831	0.33109	1.874751	-0.141152627327887	0.33750	1.933915	0.00535787296800566	0.10912	0.062308	0.01283	0	0.097471	0.02872	0	0.083675	0.02720	0	0.089874	0.02613	0	0.19193	0.30047	5.33	3.04	0.34171	1.744000	0.37894	3.125000	0.36417	0.676000	0.76740	0.503000	0.26979	1.000000	0.68203	0.582000	0.30943	0.2378:0.0:0.7622:0.0	7.462	0.26472	187	0.92701	Ferlin, C-terminal domain;Ferlin, C-terminal domain;Ferlin, C-terminal domain;Ferlin, C-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	0	0	0	0	0.02381	977.98	39	chr2	96704283	.	G	A	977.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.544;DP=788;ExcessHet=0.0000;FS=0.813;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.63;ReadPosRankSum=-8.190e-01;SOR=0.559	GT:AD:DP:GQ:PL	0/1:52,40:92:99:992,0,1307	20	0	1	0
chr2	97113842	97113842	A	G	exonic	ANKRD36	.	nonsynonymous SNV	ANKRD36:NM_001354587:exon1:c.A103G:p.R35G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	0.833	P	0.213	B	.	.	1.000	N	0.79	N	0.65	T	-1.045	T	0.067	T	0.355	0.238	5.287	0.93	0.680	0.771	4.142	0.073	0.00261285730632	.	.	0.0002	0.0002	0	0	0.0002	0.0002	0	0	0.0001358	21	154602	rs759245845	0.0001	0.0001	0.0001	0.0001	0.0014	0.0001	0.0001	0.0007	0.0005	0.0003	0.0003	0	2.551e-05	3.745e-05	0.0014	0.0001	0.0002	0	7.902e-05	7.883e-05	7.718e-05	8.095e-05	0.0001	4.506e-05	3.519e-05	6.806e-05	5.089e-05	4.828e-05	0	0	0	0	0	0	0.0001	0.0005	0	0.337	0.12837	T	0.358	0.39190	T	0.777	0.44168	P	0.213	0.37437	B	.	.	.	.	1	0.08975	N	0.23	0.09627	N	0.65	0.52642	T	-1.77	0.41809	N	0.203	0.32037	-1.0446	0.15942	T	0.067	0.27434	T	9	0.10054904	0.18319	T	0.002613	0.05292	T	0.073	0.21317	0.601	0.73226	0.608471955132	0.60533	.	.	.	.	0.502512216568	0.39178	T	0.006008	0.05450	T	-0.315646	0.07260	T	-0.421881	0.30860	T	0.0393873146329482	0.03579	T	0.29917	0.05580	T	0.039303605	0.05401	0.03576883	0.02892	0.039303605	0.05401	0.03576883	0.02892	-5.786	0.44452	T	.	.	0.147	0.72054	B	.;.;.;.	.;.;.;.	1.322300	0.17263	13.06	0.63000254123948762	0.07108	0.05494	0.11380	N	ALL	0.036451	0.04860	N	-0.801910380187137	0.13261	0.6520485	-0.948205647813828	0.10965	0.5556791	0.999485501106502	0.39952	0.733237	0.96898	0	0.52208	0.09955	0	0.619478	0.44681	0	0.621717	0.48901	0	.	.	0.93	0.93	0.18581	0.999000	0.29358	0.696000	0.20807	0.345000	0.19837	0.431000	0.26416	0.001000	0.17328	0.006000	0.07323	1.0:0.0:0.0:0.0	4.142	0.09663	224	0.91330	.;.;.;.	.	.	.	.	.	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	2474.98	35	chr2	97113842	.	A	G	2474.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.410e-01;DP=917;ExcessHet=0.0000;FS=1.680;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=58.78;MQRankSum=-3.411e+00;QD=11.73;ReadPosRankSum=-8.810e-01;SOR=0.842	GT:AD:DP:GQ:PL	0/1:109,102:211:99:2489,0,2694	20	0	1	0
chr2	97113864	97113864	A	G	exonic	ANKRD36	.	nonsynonymous SNV	ANKRD36:NM_001354587:exon1:c.A125G:p.H42R	.	.	0	225	1	0	0	1	0.00221729	.	.	2812124	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.27	T	0.001	B	0.0	B	.	.	1.000	N	-0.51	N	0.64	T	-1.057	T	0.042	T	0.049	-1.282	0.042	-1.86	-0.873	-0.981	1.504	0.051	0.00196642749006	.	0.00179712	0.0004	0.0005	0.0002	0.0017	0.0002	0.0003	0	0.0002	0.0004722	73	154602	rs550176856	0.0005	0.0011	0.0005	0.0006	0.0134	0.0005	0.0005	0.0125	0.0121	0.0007	0.0005	0	0.0134	3.758e-05	0.0019	0.0002	0.0003	0.0001	0.0006	0.0033	0.0005	0.0007	0.0071	0.0005	0.0004	0.0052	0.0046	0.0006	0	0.0002	0	0.0071	9.769e-05	0.0034	0.0003	0.0010	0	0.398	0.10553	T	0.338	0.18125	T	0.001	0.07471	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	-0.01	0.05129	N	0.64	0.52867	T	0.04	0.06488	N	0.087	0.11769	-1.0569	0.12543	T	0.042	0.17910	T	9	0.008392215	0.00190	T	0.001966	0.03509	T	0.051	0.14325	0.55	0.66576	0.200317383148	0.19677	.	.	.	.	0.634746193886	0.57818	T	0.001207	0.00701	T	-0.636926	0.00087	T	-0.752431	0.03392	T	0.00576444249600172	0.00063	T	0.0746925	0.00546	T	0.02367171	0.01127	0.031856224	0.01835	0.02367171	0.01127	0.031856224	0.01835	-2.695	0.07261	T	.	.	0.075	0.38336	B	.;.;.;.	.;.;.;.	-0.505361	0.01850	0.149	0.2023389317569606	0.00719	0.00988	0.03756	N	AEFDGBHCI	0.034039	0.04148	N	-1.68410191546142	0.00899	0.03893305	-1.75349279002498	0.00920	0.04116796	0.999679299896466	0.41644	0.542737	0.22433	0	0.484254	0.07192	0	0.619478	0.44681	0	0.638787	0.57140	0	.	.	0.93	-1.86	0.07340	-1.920000	0.01662	-11.651000	0.00586	-0.561000	0.04853	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.3254:0.2594:0.0:0.4153	1.504	0.02333	224	0.91330	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	1	0	0	0	0.02381	2572.98	35	chr2	97113864	.	A	G	2572.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-8.500e-01;DP=907;ExcessHet=0.0000;FS=0.525;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=57.88;MQRankSum=-5.288e+00;QD=12.80;ReadPosRankSum=-2.083e+00;SOR=0.752	GT:AD:DP:GQ:PL	0/1:100,101:201:99:2587,0,2537	20	0	1	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|1:118,21:139:99:1|0:97185332_A_G:527,0,4892:97185332	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|1:120,21:141:99:1|0:97185332_A_G:521,0,4976:97185332	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|1:122,21:143:99:1|0:97185332_A_G:515,0,5060:97185332	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|1:132,21:153:99:1|0:97185332_A_G:484,0,5479:97185332	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|1:56,97:153:99:0|1:97513219_T_C:3894,0,2059:97513219	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|1:58,104:162:99:0|1:97513219_T_C:4142,0,2122:97513219	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|1:65,121:186:99:0|1:97513244_G_T:4885,0,2331:97513244	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|1:70,127:197:99:0|1:97513244_G_T:5081,0,2537:97513244	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|1:70,127:197:99:0|1:97513244_G_T:5081,0,2537:97513244	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|1:70,134:204:99:0|1:97513268_C_T:5416,0,2536:97513268	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|1:72,136:208:99:0|1:97513268_C_T:5474,0,2573:97513268	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|1:72,136:208:99:0|1:97513268_C_T:5474,0,2573:97513268	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|1:70,135:205:99:0|1:97513268_C_T:5402,0,2472:97513268	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	0/1:62,51:115:99:1225,0,1416	0	0	20	1
chr2	98093151	98093151	G	T	exonic	VWA3B	.	nonsynonymous SNV	VWA3B:NM_144992:exon2:c.G59T:p.G20V,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.19	T	0.923	P	0.504	P	0.028	N	1.000	N	1.735	L	1.1	T	-1.039	T	0.099	T	0.263	1.751	11.82	1.13	0.424	0.769	6.688	0.019	0.0196985629577	.	.	4.97e-05	0.0001	0	0	0	7.494e-05	0	0	5.82e-05	9	154602	rs767894805	2.599e-05	2.599e-05	2.042e-05	3.163e-05	0.0003	1.932e-05	1.692e-05	0.0002	0.0001	0.0003	0.0001	0	0	0	0.0003	1.619e-05	3.312e-05	0	6.574e-06	6.567e-06	1.285e-05	0	2.415e-05	0	0	.	.	2.415e-05	0	0	0	0	0	0	0	0	0	0.04	0.42199	D	0.092	0.39954	T	0.875	0.48103	P	0.357	0.43052	B	0.027979	0.25675	N	0.331335	1	0.08975	N	1.87	0.49600	L	1.1	0.39050	T	-2.68	0.57275	D	0.284	0.32148	-1.0388	0.17678	T	0.099	0.36907	T	10	0.10365063	0.19067	T	0.019699	0.42129	T	0.019	0.03383	0.309	0.28128	0.306695030598	0.30287	0.21810984399538694	0.21726	0.32927522572	0.35035	0.247609481215	0.03520	T	0.006633	0.06057	T	-0.297761	0.08873	T	-0.483961	0.24026	T	0.133130088448524	0.15669	T	0.60094	0.22456	T	0.09744343	0.22970	0.13569114	0.32482	0.09744343	0.22970	0.13569114	0.32481	-3.284	0.13532	T	.	.	0.090	0.12797	B	.	.	0.735265	0.11045	7.700	0.96294401840345523	0.29325	0.17426	0.19832	N	AEFGBI	0.114719	0.22585	N	-0.391495048306636	0.25771	1.401456	-0.554265728660297	0.20693	1.116025	0.078380256248544	0.15786	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	5.22	1.13	0.19758	1.085000	0.30452	0.620000	0.20121	0.662000	0.56354	0.009000	0.18154	0.058000	0.21979	0.161000	0.20682	0.1622:0.2754:0.5623:0.0	6.688	0.22347	460	0.78750	.	.	.	.	.	.	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	1814.98	34	chr2	98093151	.	G	T	1814.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.060e-01;DP=789;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=17.29;ReadPosRankSum=-5.070e-01;SOR=0.646	GT:AD:DP:GQ:PL	0/1:35,70:105:99:1829,0,780	20	0	1	0
chr2	104855597	104855597	T	0	exonic	POU3F3	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6579	4762.41	11	chr2	104855597	.	T	C,*	4762.41	.	AC=25,1;AF=0.658,0.026;AN=38;BaseQRankSum=-6.230e-01;DP=340;ExcessHet=0.0665;FS=7.060;InbreedingCoeff=0.2714;MLEAC=26,1;MLEAF=0.684,0.026;MQ=60.00;MQRankSum=0.00;QD=16.71;ReadPosRankSum=0.298;SOR=0.767	GT:AD:DP:GQ:PL	0/1:5,5,0:10:94:94,0,147,109,162,270	3	9	6	2
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	1|2:0,87,73:160:99:1|0:108259008_AAAACTTGGTCAGGTGATGTTAT_A:5516,3061,2800,2656,0,3475:108259008	3	5	3	0
chr2	127505019	127505019	G	A	exonic	IWS1	.	nonsynonymous SNV	IWS1:NM_017969:exon3:c.C884T:p.P295L,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.12	T	0.989	D	0.797	P	0.001	D	1.000	D	1.895	L	1.39	T	-0.933	T	0.166	T	0.347	3.195	16.70	5.92	2.813	2.160	14.754	0.060	0.0150779276269	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1343383187	2.054e-06	2.052e-06	0	4.128e-06	3.004e-05	5.5e-07	1.5e-07	3e-07	1.1e-07	3.004e-05	0	0	0	0	0	1.799e-06	0	0	6.587e-06	6.572e-06	0	1.349e-05	1.472e-05	0	0	.	.	0	0	0	0	0	0	0	1.472e-05	0	0	0.002	0.72154	D	0.048	0.48594	D	0.989	0.62824	D	0.797	0.58061	P	0.000547	0.43413	D	0.207171	0.999945	0.51968	D	2.365	0.68172	M	1.38	0.34050	T	-1.91	0.44471	N	0.322	0.36254	-0.9334	0.43636	T	0.166	0.50372	T	10	0.2928818	0.46864	T	0.015078	0.35602	T	0.060	0.17295	0.228	0.15406	0.322284741503	0.31843	0.1634563126187872	0.16265	0.561187484419	0.52626	0.441911906004	0.30839	T	0.022546	0.17365	T	-0.0821651	0.39361	T	-0.355801	0.38538	T	0.721257269382477	0.41762	D	0.840116	0.51512	T	0.0633392	0.13325	0.12968057	0.31175	0.0633392	0.13325	0.12968057	0.31174	-5.939	0.45766	T	.	.	0.073	0.04806	B	.	.	4.004261	0.59023	24.0	0.99874519637325399	0.95160	0.94709	0.62060	D	AEFDBCIJ	0.444514	0.50137	N	0.511278683107034	0.67754	5.124228	0.504766801549491	0.68311	5.202507	0.999997872878267	0.74766	0.706548	0.73137	0	0.696144	0.67643	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.92	5.92	0.95557	3.249000	0.51138	6.454000	0.55680	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.509000	0.29221	0.0:0.0:0.8467:0.1533	14.754	0.69169	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	0	0	0	0	0.02381	2898.98	35	chr2	127505019	.	G	A	2898.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=4.59;DP=917;ExcessHet=0.0000;FS=7.438;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.00;ReadPosRankSum=1.000e-03;SOR=0.960	GT:AD:DP:GQ:PL	0/1:125,98:223:99:2913,0,3596	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	1/1:0,244,0:244:99:.:.:7620,733,0,7997,749,9133	4	10	6	0
chr2	130463544	130463544	C	T	exonic	POTEI	.	nonsynonymous SNV	POTEI:NM_001277406:exon15:c.G2500A:p.V834M	.	.	7	1512	3	0	0	3	0.00099108	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	.	.	.	.	.	.	0.991	N	2.99	M	-3.5	D	0.431	D	0.856	D	0.133	2.931	15.77	.	0.119	3.623	5.905	0.377	0.00650932837476	.	.	0	0	0	0	0	0	0	0	3.84e-05	1	26028	rs754316812	3.783e-05	4.516e-05	4.334e-05	3.229e-05	0.0002	2.963e-05	2.654e-05	6.31e-05	4.804e-05	9.374e-05	6.72e-05	0	2.584e-05	0	0.0002	2.674e-05	0.0001	0.0001	4.333e-05	8.732e-05	6.605e-05	1.824e-05	0.0004	1.667e-05	1.02e-05	1.419e-05	6.93e-06	3.353e-05	0	0	0	0	0	0	5.347e-05	0	0.0004	0.0	0.91255	D	0.032	0.53426	D	.	.	.	.	.	.	.	.	.	.	0.991264	0.24058	N	2.79	0.81396	M	-3.5	0.94658	D	-2.19	0.49352	N	0.298	0.33687	0.431	0.89557	D	0.856	0.95204	D	6	0.43899703	0.57979	T	0.006509	0.17157	T	0.377	0.69527	0.643	0.78010	0.246215685461	0.24236	0.06628485004706802	0.06567	.	.	0.662874221802	0.61820	T	0.558825	0.85195	D	-0.0647407	0.42163	T	-0.149244	0.59311	T	0.497158176843822	0.32525	T	0.765223	0.39255	T	0.2806504	0.51111	0.33925715	0.59693	0.2806504	0.51111	0.33925715	0.59693	-7.784	0.59588	D	.	.	0.447	0.62073	A	.	.	2.358384	0.30245	18.38	0.99403442320313729	0.62934	0.36349	0.25513	N	AEFI	0.232614	0.35566	N	-0.235454104342717	0.31689	1.779364	-0.466040657822908	0.23095	1.257755	9.32829367166945E-4	0.08027	0.693126	0.56070	0	0.659464	0.62310	0	0.659464	0.59346	0	0.564101	0.26826	0	.	.	.	.	.	3.921000	0.56166	.	.	-1.133000	0.01453	1.000000	0.71638	0.501000	0.25205	0.051000	0.15275	0.0:0.9992:0.0:8.0E-4	5.905	0.18235	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	0	0	0	0	0.02381	827.98	71	chr2	130463544	.	C	T	827.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.08;DP=1736;ExcessHet=0.0000;FS=3.087;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=31.19;MQRankSum=0.125;QD=10.75;ReadPosRankSum=0.046;SOR=0.417	GT:AD:DP:GQ:PL	0/1:40,37:77:99:842,0,918	20	0	1	0
chr2	131492322	131492322	C	A	exonic	MZT2A	.	stopgain	MZT2A:NM_001085365:exon1:c.G55T:p.E19X,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	.	.	.	.	0.000	D	1.000	A	.	.	.	.	.	.	.	.	.	3.699	18.79	1.99	0.410	1.724	3.391	.	.	.	.	0	0	0	0	0	0	0	0	6.5e-06	1	154602	rs183717546	1.095e-05	1.437e-05	7.207e-06	1.478e-05	0.0001	6.57e-06	5.21e-06	5.544e-05	3.622e-05	3.472e-05	0.0001	4.094e-05	0	0	0	4.652e-06	5.248e-05	0	2.65e-05	2.628e-05	2.59e-05	2.713e-05	0.0002	8.19e-06	5.18e-06	5.299e-05	2.839e-05	2.468e-05	0	0.0002	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	0.000310	0.45977	D	0.184216	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.017	0.00226	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.339209	0.85783	D	0.518774	0.94986	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive	High	9.913766	0.99429	44	0.98669723698410761	0.44456	0.10785	0.16191	N	AEFDBHCI	0.118552	0.23177	N	0.212644052155506	0.51813	3.359583	-0.108085754303857	0.35063	2.024154	0.999999999584687	0.74766	0.733237	0.96898	0	0.52208	0.09955	0	0.600757	0.32118	0	0.621717	0.48901	0	.	.	2.88	1.99	0.25423	2.125000	0.41639	.	.	0.371000	0.20270	0.115000	0.23085	1.000000	0.68203	0.614000	0.31742	0.2514:0.6038:0.0:0.1449	3.391	0.06865	911	0.21964	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1124.98	35	chr2	131492322	.	C	A	1124.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-9.300e-02;DP=866;ExcessHet=0.0000;FS=1.836;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.72;ReadPosRankSum=-1.263e+00;SOR=0.919	GT:AD:DP:GQ:PL	0/1:37,45:82:99:1139,0,882	20	0	1	0
chr2	132783849	132783849	T	A	exonic	NCKAP5	.	nonsynonymous SNV	NCKAP5:NM_207363:exon14:c.A2962T:p.T988S,	.	.	421	1087	14	0	0	14	0.00639854	.	.	697021	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.74	T	0.001	B	0.002	B	0.410	U	1.000	N	0	N	2.96	T	-0.975	T	0.000	T	0.038	-1.664	0.012	-2.04	-0.579	-0.566	1.986	0.003	.	0.0029	0.0325479	0.0099	0.0078	0.0008	0.0949	0.0002	0.0006	0.0052	0.0169	0.0092884	1436	154602	rs61746887	0.0042	0.0042	0.0041	0.0043	0.0873	0.0041	0.0041	0.0849	0.0839	0.0077	0.0010	0.0002	0.0873	1.989e-05	0.0090	0.0005	0.0116	0.0115	0.0062	0.0062	0.0058	0.0066	0.0972	0.0059	0.0057	0.0901	0.0874	0.0064	0	0.0023	0.0003	0.0972	9.414e-05	0.0068	0.0007	0.0090	0.0147	0.561	0.06361	T	0.664	0.06427	T	0.001	0.07471	B	0.002	0.06944	B	0.410347	0.04587	U	1.476590	1	0.08975	N	1.32	0.33002	L	2.96	0.09542	T	-0.29	0.11728	N	0.048	0.01999	-0.9754	0.36037	T	0.000	0.00152	T	10	0.0032952726	0.00057	T	.	.	.	0.003	0.00094	.	.	.	.	0.11082775677587914	0.11011	0.0433135789395	0.04667	0.198995292187	0.00428	T	0.002765	0.02156	T	-0.803472	0.00007	T	-0.853055	0.00922	T	0.00113799665786856	0.00011	T	0.327267	0.06786	T	0.03022385	0.02650	0.025069835	0.00541	0.03022385	0.02649	0.025069835	0.00540	-2.621	0.06664	T	.	.	0.095	0.14979	B	.;.	.;.	-1.623157	0.00229	0.003	0.34349384205179506	0.02096	0.14036	0.18188	N	AEFBI	0.095565	0.19306	N	-1.50928442878019	0.01788	0.07835003	-1.50873930393952	0.02276	0.1044445	1.69792105174003E-4	0.05721	0.553676	0.25195	0	0.573888	0.26702	0	0.573888	0.23631	0	0.620846	0.47308	0	.	.	4.89	-2.04	0.06937	-1.364000	0.02696	.	.	-0.694000	0.04098	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1234:0.3066:0.1274:0.4426	1.986	0.03227	976	0.04745	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2184.98	81	chr2	132783849	.	T	A	2184.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.267;DP=1590;ExcessHet=0.0000;FS=1.549;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=20.42;ReadPosRankSum=0.323;SOR=0.734	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:50,57:107:99:0|1:132783849_T_A:2199,0,1886:132783849	20	0	1	0
chr2	134362338	134362338	T	C	exonic	MGAT5	.	nonsynonymous SNV	MGAT5:NM_002410:exon10:c.T1310C:p.I437T	.	.	427	1094	1	0	0	1	0.00045683	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.43	T	0.03	B	0.037	B	0.000	D	1.000	D	1.5	L	.	.	-0.864	T	0.201	T	0.503	1.161	9.725	5.91	2.261	6.084	16.342	0.091	0.0038582838938	0.0008	0.000199681	0.0010	9.61e-05	0.0002	0	0	0.0017	0	0	0.0008085	125	154602	rs148183644	0.0007	0.0007	0.0007	0.0007	0.0016	0.0006	0.0006	0.0008	0.0006	0.0001	0.0003	0.0257	0	0	0.0016	0.0001	0.0022	8.115e-05	0.0007	0.0007	0.0008	0.0007	0.0004	0.0006	0.0006	0.0002	0.0001	4.813e-05	0	0.0004	0.0248	0	0	0	0.0002	0.0005	0.0002	0.577	0.06049	T	0.612	0.07642	T	0.03	0.20002	B	0.037	0.23121	B	0.000010	0.62929	D	0.146071	0.999907	0.50806	D	1.87	0.49600	L	.	.	.	0.33	0.03889	N	0.308	0.34767	-0.8644	0.50944	T	0.201	0.55794	T	9	0.0041300654	0.00081	T	0.003858	0.09055	T	0.091	0.26358	.	.	0.0675242888579	0.06100	0.8888129293929042	0.88850	1.01612100835	0.74962	0.733451008797	0.72010	T	0.211683	0.57252	T	-0.201062	0.20650	T	-0.223459	0.52402	T	0.0262857376795136	0.01444	T	0.909009	0.67793	D	0.10906787	0.25786	0.1145061	0.27639	0.10906787	0.25786	0.1145061	0.27638	-4.299	0.28163	T	.	.	0.151	0.33412	B	.;.	.;.	2.865048	0.37866	20.6	0.90358510096794342	0.19622	0.95694	0.65759	D	AEFDBI	0.530251	0.55102	D	0.0378062261687105	0.43582	2.648346	0.232360345587245	0.51652	3.345878	0.999999999832789	0.74766	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.91	5.91	0.95240	6.067000	0.70831	7.908000	0.73883	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.920000	0.45560	0.0:0.0:0.0:1.0	16.342	0.82918	963	0.08280	.;.	.	.	.	.	.	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	1206.98	33	chr2	134362338	.	T	C	1206.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.590e-01;DP=795;ExcessHet=0.0000;FS=1.609;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.32;ReadPosRankSum=-1.483e+00;SOR=0.798	GT:AD:DP:GQ:PL	0/1:53,45:98:99:1221,0,1386	20	0	1	0
chr2	135219162	135219162	C	G	exonic	ZRANB3	.	nonsynonymous SNV	ZRANB3:NM_001286568:exon16:c.G2261C:p.S754T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	D	0.332	B	0.167	B	0.000	D	0.993	N	0	N	-2.71	D	-0.395	T	0.459	T	0.106	2.549	14.48	3.76	1.127	1.004	9.342	0.276	0.03897661594	8.5e-05	.	3.831e-05	0	0	0	0	8.78e-05	0	0	6.5e-06	1	154602	rs373108921	1.017e-05	1.026e-05	1.004e-05	1.03e-05	1.208e-05	5.9e-06	4.62e-06	6.74e-06	5.19e-06	0	0	0	0	0	0	1.208e-05	1.752e-05	0	2.628e-05	2.627e-05	3.853e-05	1.345e-05	5.88e-05	8.14e-06	5.14e-06	1.972e-05	1.124e-05	0	0	0	0	0	0	0	5.88e-05	0	0	0.015	0.52492	D	0.02	0.62352	D	0.332	0.33274	B	0.167	0.35118	B	0.000072	0.52346	D	0.196582	0.993051	0.23779	N	0.695	0.17993	N	-2.73	0.90679	D	-0.72	0.23156	N	0.242	0.27435	-0.3953	0.72175	T	0.459	0.78992	T	10	0.17148763	0.31870	T	0.038977	0.58541	D	0.276	0.59253	.	.	0.64458063076	0.64164	0.23478852221734697	0.23393	0.0490622048272	0.05365	0.342716693878	0.16844	T	0.045606	0.27172	T	-0.159629	0.26815	T	-0.328371	0.41650	T	0.164001190306984	0.18163	T	0.772323	0.40965	T	0.12525101	0.29367	0.1282881	0.30868	0.12525101	0.29367	0.1282881	0.30867	-4.238	0.35042	T	.	.	0.118	0.25232	B	.;.;.;.	.;.;.;.	2.256755	0.28829	17.93	0.97890495391979948	0.36669	0.78202	0.38548	D	AEFI	0.212409	0.33810	N	-0.368472093704219	0.26598	1.45288	-0.176326401194417	0.32410	1.843566	0.0024739617676078	0.09461	0.615465	0.37627	0	0.588066	0.40923	0	0.658983	0.55881	0	0.620846	0.47308	0	.	.	6.07	3.76	0.42368	1.132000	0.31031	2.284000	0.31916	-0.181000	0.10308	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:0.1476:0.0:0.8524	9.342	0.37249	787	0.46738	.;.;.;.	.	.	.	.	.	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	309.98	34	chr2	135219162	.	C	G	309.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.800;DP=745;ExcessHet=0.0000;FS=1.112;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=5.54;ReadPosRankSum=-7.710e-01;SOR=0.520	GT:AD:DP:GQ:PL	0/1:40,16:56:99:324,0,965	20	0	1	0
chr2	135803947	135803947	T	C	exonic	LCT	.	nonsynonymous SNV	LCT:NM_002299:exon11:c.A4646G:p.Y1549C,	Lactase deficiency, congenital, Autosomal recessive	.	0	1503	19	0	0	19	0.00628099	.	.	284150	Inborn_genetic_diseases|Lactose_intolerance|not_provided|Congenital_lactase_deficiency	MeSH:D030342,MedGen:C0950123|Human_Phenotype_Ontology:HP:0004789,MONDO:MONDO:0100345,MedGen:C0022951|MedGen:C3661900|MONDO:MONDO:0009115,MedGen:C0268179,OMIM:223000,Orphanet:53690	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.13	T	0.118	B	0.271	B	0.004	N	0.957	N	2.19	M	1.45	T	-0.982	T	0.081	T	0.512	1.507	10.99	0.391	-0.156	0.371	2.695	0.108	0.00693093645738	0.0002	0.000798722	0.0010	0.0001	0.0014	0	0	0.0013	0.0023	0.0006	0.0008538	132	154602	rs147495948	0.0006	0.0006	0.0005	0.0006	0.0095	0.0005	0.0005	0.0075	0.0068	0.0005	0.0013	0.0007	2.519e-05	0	0.0095	0.0005	0.0011	0.0005	0.0009	0.0009	0.0007	0.0010	0.0040	0.0007	0.0007	0.0032	0.0029	0.0003	0	0.0040	0	0	0	0.0034	0.0007	0.0033	0.0002	0.154	0.24277	T	0.079	0.42086	T	0.118	0.26577	B	0.271	0.39904	B	0.003701	0.34585	N	0.321131	0.957404	0.26263	N	1.535	0.38868	L	1.45	0.32482	T	-3.37	0.66665	D	0.471	0.50688	-0.9815	0.34655	T	0.081	0.31972	T	10	0.052951872	0.05408	T	0.006931	0.18345	T	0.108	0.30607	.	.	0.434825671192	0.43100	0.7974733071219136	0.79700	0.863038074097	0.69047	0.320655941963	0.13520	T	0.41368	0.76747	T	-0.445592	0.01199	T	-0.463279	0.26242	T	0.0384228685559802	0.03407	T	0.957071	0.83814	D	0.17254777	0.37951	0.24059786	0.49438	0.17254777	0.37951	0.24059786	0.49437	-7.935	0.60626	D	.	.	0.166	0.36594	B	.	.	0.970545	0.13477	9.986	0.98874049049194701	0.47702	0.41480	0.26666	N	AEFDBI	0.379394	0.46243	N	-0.638579762997715	0.17794	0.9186643	-0.724957828444461	0.16340	0.8639469	0.476227674103568	0.20748	0.487112	0.14033	0	0.547309	0.14657	0	0.573888	0.23631	0	0.530356	0.10902	0	.	.	5.78	0.391	0.15506	0.379000	0.20315	-1.936000	0.04469	-0.122000	0.13826	0.117000	0.23121	0.000000	0.08366	0.023000	0.12082	0.1054:0.133:0.2112:0.5504	2.695	0.04815	242	0.90534	.	.	.	.	.	.	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	2214.11	34	chr2	135803947	.	T	C	2214.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=5.19;DP=839;ExcessHet=0.1072;FS=0.000;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=12.87;ReadPosRankSum=0.799;SOR=0.665	GT:AD:DP:GQ:PL	0/1:62,37:99:99:1107,0,1657	19	0	2	0
chr2	140297882	140297882	G	C	exonic	LRP1B	.	nonsynonymous SNV	LRP1B:NM_018557:exon84:c.C12893G:p.T4298S,	.	.	424	1084	14	0	0	14	0.00641613	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.0	B	0.001	B	0.000	N	0.998	N	1.25	L	-2.84	D	-0.685	T	0.555	D	0.215	1.887	12.27	4.22	0.830	3.359	16.953	0.032	.	0.0010	0.00299521	0.0034	0.0003	0.0003	0.0001	0.0005	0.0012	0.0055	0.0190	0.0028137	435	154602	rs139037100	0.0017	0.0017	0.0011	0.0023	0.0184	0.0017	0.0016	0.0177	0.0174	0.0001	0.0004	0	5.038e-05	0.0009	0.0106	0.0006	0.0019	0.0184	0.0012	0.0012	0.0008	0.0017	0.0178	0.0011	0.0010	0.0148	0.0136	0.0001	0	0.0005	0	0	0.0008	0.0374	0.0009	0.0019	0.0178	0.442	0.09209	T	0.284	0.21411	T	0.0	0.02946	B	0.001	0.04355	B	0.000109	0.50451	N	0.130013	0.998452	0.22144	N	0.815	0.20815	L	-2.84	0.91305	D	-0.22	0.10480	N	0.28	0.31702	-0.6855	0.61118	T	0.555	0.83724	D	10	0.015747458	0.00331	T	.	.	.	0.195	0.47612	0.649	0.78648	0.218628672733	0.21463	0.1679552820358811	0.16715	0.285637648244	0.30974	0.330537110567	0.15016	T	0.084294	0.37246	T	-0.383137	0.02976	T	-0.308189	0.43852	T	0.0083881208771369	0.00101	T	0.667933	0.27701	T	0.042513836	0.06460	0.07768738	0.17330	0.042513836	0.06460	0.07768738	0.17330	-4.086	0.25083	T	.	.	0.064	0.01645	B	.	.	2.420397	0.31122	18.65	0.95688805439664215	0.27562	0.92811	0.56603	D	AEFI	0.366072	0.45402	N	-0.362405289579466	0.26820	1.466643	-0.174002716665161	0.32495	1.849358	0.00102793260765266	0.08137	0.553676	0.25195	0	0.573888	0.26702	0	0.573888	0.23631	0	0.620846	0.47308	0	.	.	6.08	4.22	0.49153	3.451000	0.52727	.	.	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.955000	0.50612	0.0:0.2653:0.7347:0.0	16.953	0.86120	927	0.17636	EGF-like domain|EGF-like domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	2055.11	33	chr2	140297882	.	G	C	2055.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=2.66;DP=872;ExcessHet=0.1072;FS=0.504;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=9.47;ReadPosRankSum=-1.480e-01;SOR=0.630	GT:AD:DP:GQ:PL	0/1:59,34:93:99:844,0,1450	19	0	2	0
chr2	143947122	143947122	G	A	exonic	GTDC1	.	nonsynonymous SNV	GTDC1:NM_001376332:exon9:c.C698T:p.P233L	.	.	425	1096	1	0	0	1	0.000455996	.	.	719274	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.14	T	0.987	D	0.362	B	0.020	N	0.978	D	0.69	N	0.97	T	-0.501	T	0.272	T	0.391	0.733	7.895	4.12	1.525	1.080	14.964	0.124	0.0976219271323	0.0005	0.00119808	0.0011	0.0019	0.0005	0	0	0.0002	0.0044	0.0054	0.0010284	159	154602	rs140940814	0.0007	0.0007	0.0006	0.0008	0.0059	0.0007	0.0007	0.0043	0.0039	0.0016	0.0005	0	0	0	0.0059	0.0004	0.0012	0.0045	0.0007	0.0007	0.0004	0.0010	0.0048	0.0006	0.0006	0.0033	0.0028	0.0013	0	0.0007	0	0	0	0	0.0003	0.0009	0.0048	0.278	0.27426	T	0.159	0.31936	T	0.987	0.61912	D	0.362	0.43260	B	0.019770	0.27184	N	0.412177	0.977519	0.39374	D	1.1	0.28011	L	0.97	0.77964	T	-1.6	0.40274	N	0.267	0.35938	-0.5013	0.68603	T	0.272	0.64391	T	10	0.009978741	0.00224	T	0.097622	0.76804	D	0.124	0.34239	.	.	0.757620137002	0.75541	0.3934838990304448	0.39263	0.066022613777	0.07365	0.357103019953	0.18963	T	0.006974	0.06393	T	-0.336594	0.05628	T	-0.255454	0.49277	T	0.00978208352509954	0.00129	T	0.865513	0.56452	D	0.04625477	0.07711	0.061830856	0.12003	0.04625477	0.07710	0.061830856	0.12003	-7.665	0.58764	D	.	.	0.166	0.36535	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	3.030159	0.40590	21.2	0.8335869788779513	0.14682	0.92556	0.55989	D	AEFDGBIJ	0.373604	0.45881	N	-0.106776984391451	0.37096	2.153454	0.000505117739070221	0.39740	2.36089	0.999999871325	0.74766	0.638212	0.43195	0	0.670034	0.63936	0	0.653264	0.51672	0	0.668105	0.65232	0	.	.	5.96	4.12	0.47504	1.169000	0.31480	.	.	-0.120000	0.14102	0.948000	0.32982	1.000000	0.68203	0.942000	0.48361	0.0:0.5488:0.4512:0.0	14.964	0.70832	711	0.56613	.;.;.;.;.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	829.98	39	chr2	143947122	.	G	A	829.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.18;DP=792;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.54;ReadPosRankSum=-1.968e+00;SOR=0.755	GT:AD:DP:GQ:PL	0/1:55,32:87:99:844,0,1343	20	0	1	0
chr2	144007291	144007291	T	C	exonic	GTDC1	.	nonsynonymous SNV	GTDC1:NM_001284234:exon5:c.A379G:p.S127G	.	.	434	1081	6	1	0	8	0.00368664	.	.	3259265	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.65	T	0.02	B	0.016	B	0.183	N	1.000	N	1.01	L	0.86	T	-1.022	T	0.078	T	0.193	1.930	12.41	1.6	0.413	1.544	8.652	0.017	0.00753760507508	0.0002	0.000599042	0.0003	0.0002	0.0010	0	0.0002	0.0004	0	6.072e-05	0.0003558	55	154602	rs145763899	0.0003	0.0003	0.0003	0.0003	0.0132	0.0003	0.0003	0.0108	0.0099	0.0004	0.0011	0.0007	0	0.0001	0.0132	0.0002	0.0007	8.118e-05	0.0004	0.0004	0.0004	0.0004	0.0012	0.0003	0.0003	0.0008	0.0007	0.0002	0	0.0012	0.0003	0	9.42e-05	0.0068	0.0004	0.0019	0	0.173	0.25355	T	0.374	0.29945	T	0.02	0.18235	B	0.016	0.17743	B	0.183274	0.17045	N	0.628661	1	0.08975	N	0.83	0.20963	L	0.86	0.47477	T	-0.92	0.30346	N	0.197	0.21710	-1.0225	0.22899	T	0.078	0.31012	T	10	0.011017561	0.00243	T	0.007538	0.20006	T	0.017	0.02790	.	.	0.101711395817	0.09552	0.18037522653695967	0.17956	0.0425100736559	0.04582	0.205392956734	0.00631	T	0.010273	0.09295	T	-0.493747	0.00620	T	-0.539785	0.18316	T	0.00230573723092675	0.00024	T	0.631737	0.24648	T	0.06957517	0.15253	0.056119543	0.09971	0.06957517	0.15253	0.056119543	0.09971	-4.18	0.28008	T	.	.	0.063	0.04517	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	0.947525	0.13235	9.736	0.87936319782472061	0.17592	0.74955	0.36681	D	AEFGI	0.103639	0.20759	N	-0.829466545072014	0.12561	0.6130462	-0.739028031851684	0.15993	0.843863	0.320770404121516	0.19382	0.693126	0.56070	0	0.659464	0.62310	0	0.658983	0.55881	0	0.564101	0.26826	0	.	.	5.27	1.6	0.22686	1.531000	0.35624	.	.	-0.137000	0.12594	0.991000	0.37257	0.000000	0.08366	0.873000	0.41610	0.0:0.2267:0.0:0.7733	8.652	0.33206	807	0.43470	.;.;.;.;.;.;.;.	.	.	.	.	.	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	2674.98	35	chr2	144007291	.	T	C	2674.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.458;DP=859;ExcessHet=0.0000;FS=2.688;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.46;ReadPosRankSum=0.928;SOR=0.846	GT:AD:DP:GQ:PL	0/1:74,99:173:99:2689,0,1848	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	1/1:0,9,0,0:9:27:235,27,0,235,27,235,235,27,235,235	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	1/1:0,9,0,0:9:27:235,27,0,235,27,235,235,27,235,235	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	0/1:98,25:123:99:.:.:250,0,2819	17	0	4	0
chr2	157321525	157321525	C	G	exonic	ERMN	.	nonsynonymous SNV	ERMN:NM_001304346:exon3:c.G541C:p.V181L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.753	P	0.241	B	0.000	D	1.000	N	1.04	L	.	.	-1.008	T	0.064	T	0.589	2.522	14.39	4.94	1.467	2.498	9.504	0.194	0.00202641819198	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001	0.0035	0.0001	0.0001	0.0002	0.0001	0.0001	0.0001	0.0001	9.206e-05	2.239e-05	0	7.6e-05	0	0	0.0002	0.0002	5.858e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	0.56456	D	0.591	0.16134	T	0.753	0.43334	P	0.241	0.38645	B	0.000353	0.45440	D	0.096119	0.825017	0.28834	N	2.39	0.68882	M	.	.	.	-2.33	0.51646	N	0.32	0.63713	-1.0082	0.27479	T	0.064	0.26667	T	9	0.2529603	0.42657	T	0.002026	0.03668	T	0.194	0.47447	0.398	0.42590	0.449379577644	0.44558	0.335866359051135	0.33499	0.188691245063	0.21188	0.471151411533	0.34839	T	0.175291	0.52483	T	0.0512656	0.58505	T	-0.164137	0.57977	T	0.936455905437469	0.60547	D	0.767123	0.39577	T	0.19478427	0.41242	0.19957332	0.43846	0.19478427	0.41242	0.19957332	0.43845	-4.026	0.24787	T	.	.	0.610	0.71848	P	.;.;.	.;.;.	3.057320	0.41045	21.3	0.99387453982124174	0.62157	0.97238	0.73508	D	AEFDBI	0.448369	0.50363	N	0.192805104781322	0.50852	3.271494	0.289710337560756	0.54937	3.657473	0.999627476162613	0.41093	0.706298	0.61202	0	0.709663	0.81188	0	0.491513	0.07944	0	0.564101	0.26826	0	.	.	5.81	4.94	0.64645	2.554000	0.45507	4.885000	0.45705	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.986000	0.61781	0.1418:0.7861:0.0:0.0721	9.504	0.38199	557	0.71576	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.4167	1342.85	104	chr2	157321525	.	C	G	1342.85	.	AC=15;AF=0.417;AN=36;BaseQRankSum=-4.190e+00;DP=3903;ExcessHet=17.4423;FS=278.896;InbreedingCoeff=-0.6111;MLEAC=16;MLEAF=0.444;MQ=60.00;MQRankSum=0.00;QD=0.51;ReadPosRankSum=0.851;SOR=12.437	GT:AD:DP:GQ:PL	0/1:100,49:157:99:222,0,2098	3	0	15	3
chr2	158673899	158673899	A	G	exonic	PKP4	.	nonsynonymous SNV	PKP4:NM_001005476:exon19:c.A3026G:p.N1009S	.	.	439	1082	1	0	0	1	0.000461894	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.88	T	0.002	B	0.007	B	0.000	D	0.998	D	-0.625	N	-0.71	T	-0.945	T	0.104	T	0.036	0.452	6.456	5.63	2.281	2.307	6.921	0.127	0.00499546634687	.	.	8.237e-06	0	0	0	0	0	0	6.057e-05	6.5e-06	1	154602	rs781225281	3.434e-06	4.105e-06	1.367e-06	5.519e-06	0.0002	1.01e-06	7.3e-07	3.85e-06	1.44e-06	0	2.236e-05	0	0	0	0.0002	0	1.661e-05	2.321e-05	2.628e-05	2.627e-05	0	5.38e-05	0.0003	8.14e-06	5.14e-06	8.876e-05	5.385e-05	0	0	0.0003	0	0	0	0	0	0	0	0.884	0.02519	T	0.776	0.04387	T	0.001	0.07471	B	0.007	0.12992	B	0.000035	0.55875	D	0.158284	0.998058	0.44459	D	0.02	0.07987	N	-0.71	0.72889	T	-0.68	0.19509	N	0.204	0.26111	-0.9445	0.41895	T	0.104	0.38169	T	10	0.12932447	0.24607	T	0.004995	0.12598	T	0.127	0.34888	0.428	0.47515	0.550632123912	0.54720	0.16437400058438761	0.16357	0.141396833044	0.15943	0.744555532932	0.73643	T	0.037489	0.33773	T	-0.278611	0.10815	T	-0.541128	0.18185	T	0.121823835053921	0.14607	T	0.921208	0.71716	D	0.030031208	0.02596	0.04924651	0.07486	0.030031208	0.02596	0.04924651	0.07485	-2.171	0.05727	T	.	.	0.071	0.04316	B	.;.;.	.;.;.	2.739248	0.35877	20.1	0.86168801329859079	0.16357	0.84361	0.43443	D	AEFBHCI	0.365379	0.45357	N	-0.416933510336039	0.24875	1.346298	-0.129394426859976	0.34210	1.965362	0.999949597288653	0.47345	0.706548	0.73137	0	0.633656	0.55848	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.63	5.63	0.86108	1.480000	0.35072	.	.	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.7674:0.152:0.0806:0.0	6.921	0.23567	837	0.37933	.;.;.	.	.	.	.	.	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	2187.98	44	chr2	158673899	.	A	G	2187.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.10;DP=884;ExcessHet=0.0000;FS=1.229;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.92;MQRankSum=0.00;QD=13.42;ReadPosRankSum=0.139;SOR=0.832	GT:AD:DP:GQ:PL	0/1:84,79:163:99:2202,0,2330	20	0	1	0
chr2	159065938	159065938	C	T	exonic	TANC1	.	stopgain	TANC1:NM_001145909:exon3:c.C28T:p.R10X	.	.	418	1102	1	1	0	3	0.00135931	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	.	.	.	.	0.005	N	1.000	A	.	.	.	.	.	.	.	.	.	6.448	37	4.54	2.738	2.237	12.714	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs960946605	1.368e-06	1.368e-06	0	2.751e-06	0.0002	2.3e-07	9e-08	.	.	0	0	0	0	0	0.0002	8.994e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.005008	0.33181	N	0.136561	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.304	0.34336	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.567668	0.96476	D	0.577639	0.96417	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive	High	9.115028	0.98485	39	0.99785896834938304	0.87219	0.86166	0.45395	D	AEFDBIJ	0.180497	0.30780	N	0.809584322535244	0.86703	8.970998	0.683950453004415	0.81162	7.462321	0.999998499205932	0.74766	0.645754	0.44609	0	0.588066	0.40923	0	0.675528	0.61593	0	0.723	0.93126	0	.	.	5.48	4.54	0.55220	1.788000	0.38346	3.964000	0.40771	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.2683:0.7317:0.0:0.0	12.714	0.56477	805	0.43675	.	.	.	.	.	.	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	400.98	33	chr2	159065938	.	C	T	400.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.69;DP=665;ExcessHet=0.0000;FS=8.916;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.85;ReadPosRankSum=2.91;SOR=1.665	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:13,14:27:99:0|1:159065938_C_T:415,0,273:159065938	20	0	1	0
chr2	159899054	159899059	CATTAG	-	exonic	LY75;LY75-CD302	.	nonframeshift deletion	LY75-CD302:NM_001198759:exon2:c.95_100del:p.A32_N33del	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0017	0.00259585	0.0005	0.0052	0	0	0	4.529e-05	0	0.0001	0.0001153	3	26028	rs371868980	0.0001	0.0001	0.0001	0.0001	0.0038	0.0001	0.0001	0.0033	0.0031	0.0038	8.953e-05	0	0	0	0.0019	1.711e-05	0.0003	5.798e-05	0.0011	0.0011	0.0012	0.0010	0.0039	0.0010	0.0010	0.0034	0.0032	0.0039	0	0.0002	0	0	0	0.0102	7.351e-05	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1343.94	39	chr2	159899053	.	TCATTAG	T	1343.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-9.490e-01;DP=791;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.00;ReadPosRankSum=-5.900e-02;SOR=0.744	GT:AD:DP:GQ:PL	0/1:48,36:84:99:1358,0,1887	20	0	1	0
chr2	159944912	159944912	C	T	exonic	PLA2R1	.	nonsynonymous SNV	PLA2R1:NM_001195641:exon28:c.G4132A:p.E1378K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.48	T	0.002	B	0.005	B	0.069	N	1.000	D	1.245	L	2.39	T	-1.048	T	0.031	T	0.17	1.903	12.32	2.84	0.115	1.007	8.741	0.052	0.00574204286736	7.7e-05	.	3.299e-05	0.0002	0	0	0	0	0	0.0001	2.59e-05	4	154602	rs369027159	6.853e-06	6.841e-06	6.819e-06	6.887e-06	0.0002	3.47e-06	2.53e-06	5.862e-05	3.766e-05	0.0001	0	0	0	0	0.0002	0	0	4.647e-05	2.628e-05	3.283e-05	5.139e-05	0	9.651e-05	8.14e-06	5.14e-06	3.249e-05	1.915e-05	9.651e-05	0	0	0	0	0	0	0	0	0	0.112	0.28900	T	0.134	0.34241	T	0.002	0.09854	B	0.005	0.11217	B	0.068651	0.21658	N	0.499836	0.998428	0.22162	N	2.015	0.55033	M	2.39	0.15724	T	-1.87	0.43717	N	0.197	0.21710	-1.0480	0.14960	T	0.031	0.13242	T	10	0.09427044	0.16748	T	0.005742	0.14892	T	0.052	0.14661	.	.	0.255777322467	0.25185	0.44793929276318645	0.44711	0.0727749533381	0.08152	0.386936962605	0.23237	T	0.057665	0.30628	T	-0.423342	0.01629	T	-0.609209	0.12048	T	0.0477469956768579	0.05097	T	0.610439	0.23144	T	0.05779512	0.11547	0.08998381	0.21074	0.05779512	0.11546	0.08998381	0.21073	-2.372	0.04964	T	.	.	0.078	0.06756	B	.	.	1.508848	0.19389	14.24	0.97571651865121112	0.34681	0.80136	0.39855	D	AEFBI	0.114807	0.22599	N	-0.707739115040608	0.15803	0.7996964	-0.551915006417029	0.20755	1.11968	0.21516204446218	0.18288	0.50712	0.20391	0	0.573888	0.26702	0	0.536957	0.11973	0	0.635259	0.50027	0	.	.	5.76	2.84	0.32241	0.816000	0.26924	1.075000	0.23839	-0.276000	0.06580	0.995000	0.38783	0.999000	0.35428	0.874000	0.41677	0.0:0.6277:0.229:0.1433	8.741	0.33719	630	0.65016	.	.	.	.	.	.	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	572.98	34	chr2	159944912	.	C	T	572.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.36;DP=751;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.55;ReadPosRankSum=1.36;SOR=0.794	GT:AD:DP:GQ:PL	0/1:41,26:67:99:587,0,958	20	0	1	0
chr2	166311681	166311681	G	A	exonic	SCN9A	.	nonsynonymous SNV	SCN9A:NM_001365536:exon2:c.C76T:p.R26C	Epilepsy, generalized, with febrile seizures plus, type 7, Autosomal dominant;Erythermalgia, primary, Autosomal dominant;Febrile seizures, familial, 3B, Autosomal dominant;HSAN2D, autosomal recessive, Autosomal recessive;Insensitivity to pain, congenital, Autosomal recessive;Paroxysmal extreme pain disorder,, Autosomal dominant;Small fiber neuropathy, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	244321	not_provided|Inborn_genetic_diseases|Neuropathy,_hereditary_sensory_and_autonomic,_type_2A|Generalized_epilepsy_with_febrile_seizures_plus,_type_7|Channelopathy-associated_congenital_insensitivity_to_pain,_autosomal_recessive|Paroxysmal_extreme_pain_disorder|Primary_erythromelalgia	MedGen:C3661900|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300,Orphanet:970|MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863,Orphanet:36387|MONDO:MONDO:0009459,MedGen:C1855739,OMIM:243000,Orphanet:88642,Orphanet:970|MONDO:MONDO:0008179,MedGen:C1833661,OMIM:167400,Orphanet:46348|MONDO:MONDO:0007571,MedGen:C0014805,OMIM:133020,Orphanet:306577,Orphanet:90026	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0	D	1.0	D	0.991	D	.	.	1.000	D	3.48	M	-4.42	D	1.096	D	0.958	D	0.874	4.351	22.9	5.43	2.541	4.007	14.560	0.890	0.148874187306	8.2e-05	.	4.143e-05	0	0	0	0	4.499e-05	0	0.0001	3.88e-05	6	154602	rs199933920	8.485e-05	8.482e-05	7.762e-05	9.216e-05	0.0001	7.211e-05	6.798e-05	8.854e-05	8.24e-05	2.987e-05	2.236e-05	0	0	1.873e-05	0	0.0001	3.314e-05	3.479e-05	4.614e-05	4.599e-05	5.15e-05	4.052e-05	7.358e-05	2.115e-05	1.531e-05	2.849e-05	1.86e-05	4.841e-05	0	0	0	0	0	0	7.358e-05	0	0	0.0	0.91255	D	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	3.895	0.96086	H	-4.42	0.97560	D	-7.33	0.94566	D	0.734	0.73465	1.096	0.99503	D	0.958	0.98653	D	9	0.9600953	0.95409	D	0.148874	0.83075	D	0.890	0.96836	.	.	0.841119715736	0.83960	0.5242240896540614	0.52346	0.328951204558	0.35008	0.490849852562	0.37556	T	0.747368	0.93049	D	0.371883	0.88180	D	0.499061	0.94579	D	0.991646111011505	0.81968	D	0.911209	0.68535	D	0.5918507	0.72252	0.47515532	0.69585	0.5918507	0.72253	0.47515532	0.69585	-9.978	0.73894	D	.	.	0.170	0.44332	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	5.775460	0.93498	33	0.99923822713366206	0.98917	0.97379	0.74376	D	AEFI	0.793741	0.72165	D	0.880554941186118	0.90776	10.560	0.804747094414901	0.90121	10.26559	0.999998383618722	0.74766	0.638212	0.43195	0	0.573888	0.26702	0	0.653264	0.51672	0	0.620846	0.47308	0	.	.	5.43	5.43	0.79006	3.470000	0.52864	8.435000	0.77180	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:0.853:0.1469	14.560	0.67719	574	0.70151	.;.;.;.;.;.;.;.	.	.	.	.	.	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	996.98	42	chr2	166311681	.	G	A	996.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.739;DP=855;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.24;ReadPosRankSum=1.10;SOR=0.783	GT:AD:DP:GQ:PL	0/1:31,39:70:99:1011,0,723	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	0/1:38,40,0:78:99:963,0,855,1077,975,2052	10	2	8	0
chr2	178450414	178450414	-	AAGGTCCCACTGTCCTCGCGCTCCAGCGGCGGGGCCTCGGCGGTGCCTGCTCTGGGACAGGGCGAGAAGGGACGGCT	exonic	PRKRA	.	stopgain	PRKRA:NM_001139517:exon1:c.29_30insAGCCGTCCCTTCTCGCCCTGTCCCAGAGCAGGCACCGCCGAGGCCCCGCCGCTGGAGCGCGAGGACAGTGGGACCTT:p.C10*,	Dystonia 16, Autosomal recessive	.	1	1390	34	0	97	131	0.0120824	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.942e-05	4.241e-05	3.131e-05	2.751e-05	5.397e-06	2.217e-05	1.97e-05	1.94e-06	1.28e-06	0	0	3.826e-05	0	0.0007	0	5.397e-06	1.656e-05	0	0.0020	0.0032	0.0019	0.0020	0.0029	0.0018	0.0017	0.0018	0.0015	0.0019	0.0044	0.0024	0.0020	0.0015	0.0023	0	0.0018	0.0033	0.0029	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	10094.64	181	chr2	178450414	.	G	GAAGGTCCCACTGTCCTCGCGCTCCAGCGGCGGGGCCTCGGCGGTGCCTGCTCTGGGACAGGGCGAGAAGGGACGGCT	10094.64	.	AC=3;AF=0.071;AN=42;BaseQRankSum=2.69;DP=2294;ExcessHet=0.3300;FS=1.952;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=13.81;ReadPosRankSum=-6.762e+00;SOR=0.868	GT:AD:DP:GQ:PL	0/1:134,98:232:99:3654,0,5363	18	0	3	0
chr2	178777862	178777862	C	G	exonic	TTN	.	nonsynonymous SNV	TTN:NM_003319:exon24:c.G4184C:p.R1395P	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	1451	68	3	0	74	0.0248656	.	.	56211	Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J|Dilated_cardiomyopathy_1G|Early-onset_myopathy_with_fatal_cardiomyopathy|not_provided|Cardiomyopathy|not_specified|Cardiovascular_phenotype|Tibial_muscular_dystrophy|Myopathy,_myofibrillar,_9,_with_early_respiratory_failure	MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807,Orphanet:140922|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145,Orphanet:154|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	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	.	.	1.000	D	1.655	L	0.24	T	-0.403	T	0.249	T	0.767	3.188	16.67	5.45	2.723	7.584	19.254	0.459	.	0.0058	0.0103834	0.0111	0.0012	0.0060	0.0088	0.0180	0.0116	0.0132	0.0174	0.010375	1604	154602	rs72647876	0.0097	0.0097	0.0093	0.0100	0.0171	0.0095	0.0095	0.0163	0.0160	0.0014	0.0081	0.0081	0.0042	0.0183	0.0137	0.0092	0.0102	0.0171	0.0084	0.0085	0.0071	0.0098	0.0162	0.0080	0.0079	0.0137	0.0131	0.0013	0	0.0153	0.0089	0.0102	0.0200	0.0102	0.0087	0.0114	0.0162	0.095	0.54683	T	0.005	0.72224	D	1.0	0.90584	D	0.997	0.97372	D	.	.	.	.	0.999288	0.58761	D	.	.	.	-0.14	0.65006	T	-4.19	0.85844	D	0.188	0.76760	-0.4030	0.71932	T	0.249	0.61855	T	9	0.008319944	0.00189	T	.	.	.	0.459	0.75687	.	.	.	.	.	.	0.552916037637	0.52078	0.748514950275	0.74228	T	.	.	.	-0.158262	0.27029	T	0.0135168	0.71209	D	0.0142363712654734	0.00281	T	0.940956	0.82493	D	.	.	.	.	.	.	.	.	-8.108	0.61805	D	.	.	0.515	0.65265	A	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	4.006971	0.59081	24.1	0.95907815994375256	0.28150	0.98680	0.85501	D	AEFGBI	0.981315	0.99870	D	0.803908257609293	0.86349	8.857237	0.804679695527492	0.90117	10.26354	0.999999999999429	0.74766	0.554377	0.28877	0	0.588066	0.40923	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	5.45	5.45	0.79688	7.669000	0.82880	.	.	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:1.0:0.0:0.0	19.254	0.93927	346	0.85643	.;.;.;.;.;.;.;.	.	.	.	.	.	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	0.09524	7570.92	151	chr2	178777862	.	C	G	7570.92	.	AC=4;AF=0.095;AN=42;BaseQRankSum=1.68;DP=1317;ExcessHet=0.6776;FS=1.104;InbreedingCoeff=-0.1053;MLEAC=4;MLEAF=0.095;MQ=60.00;MQRankSum=0.00;QD=12.23;ReadPosRankSum=-4.120e-01;SOR=0.576	GT:AD:DP:GQ:PL	0/1:70,72:142:99:1795,0,1658	17	0	4	0
chr2	181892272	181892272	G	C	exonic	ITPRID2	.	nonsynonymous SNV	ITPRID2:NM_001130445:exon1:c.G206C:p.G69A	.	.	393	1126	3	0	0	3	0.00133038	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.59	T	0.663	P	0.196	B	0.414	N	1.000	D	1.79	L	2.83	T	-1.031	T	0.026	T	0.099	2.483	14.26	2.11	0.805	0.726	4.079	0.047	0.0568155563535	.	0.000399361	0.0021	0	0	0	0	0	0	0.0040	0.0002135	33	154602	rs560220325	0.0003	0.0003	0.0002	0.0004	0.0047	0.0003	0.0003	0.0043	0.0041	0	0	0	0	0	0.0002	1.114e-05	0.0002	0.0047	8.539e-05	8.53e-05	5.14e-05	0.0001	0.0025	4.955e-05	3.961e-05	0.0014	0.0011	0	0	0	0	0.0002	0	0	0	0	0.0025	0.163	0.23450	T	0.238	0.24767	T	0.663	0.40973	P	0.196	0.36635	B	0.414121	0.12957	N	0.692755	1	0.81001	D	.	.	.	2.83	0.13204	T	-0.17	0.09796	N	0.108	0.11197	-1.0306	0.20260	T	0.026	0.11043	T	10	0.007245511	0.00165	T	0.056816	0.66741	D	0.047	0.12962	0.103	0.01643	0.426670027402	0.42282	0.0756108011511373	0.07497	1.52796361028	0.87540	0.623684227467	0.56250	T	0.025721	0.19174	T	-0.640299	0.00083	T	-0.692666	0.06236	T	0.0360905806633666	0.02997	T	0.914409	0.69449	D	0.04288994	0.06586	0.05019299	0.07829	0.04288994	0.06586	0.05019299	0.07828	-3.61	0.18002	T	.	.	0.090	0.13690	B	.;.;.	.;.;.	1.379699	0.17910	13.44	0.95552257662969331	0.27216	0.82519	0.41735	D	ALL	0.157269	0.28275	N	-0.219300140651063	0.32343	1.822946	-0.197516462127553	0.31627	1.791701	0.999999999997866	0.74766	0.652421	0.48094	0	0.52208	0.09955	0	0.64067	0.45733	0	0.56214	0.19341	0	.	.	4.3	2.11	0.26299	0.468000	0.21763	1.267000	0.25267	-0.174000	0.10959	0.787000	0.29557	0.692000	0.26181	0.051000	0.15275	0.4436:0.0:0.5564:0.0	4.079	0.09394	680	0.59965	.;.;.	.	.	.	.	.	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	651.98	34	chr2	181892272	.	G	C	651.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.04;DP=750;ExcessHet=0.0000;FS=2.137;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.19;ReadPosRankSum=1.62;SOR=0.694	GT:AD:DP:GQ:PL	0/1:38,26:64:99:666,0,946	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	0/1:23,25,20:68:83:.:.:192,0,261,83,186,358	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	0/1:23,25,20:68:83:.:.:192,0,261,83,186,358	0	0	8	4
chr2	195680089	195680089	C	T	exonic	SLC39A10	.	nonsynonymous SNV	SLC39A10:NM_001127257:exon2:c.C47T:p.T16I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.912	P	0.476	P	0.000	D	1.000	D	1.905	M	1.29	T	-0.918	T	0.116	T	0.691	3.676	18.68	4.01	1.268	6.945	13.179	0.265	0.0329731284749	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	0.912	0.50421	P	0.476	0.46961	P	0.000238	0.47286	D	0.182655	0.999974	0.81001	D	2.095	0.58118	M	1.29	0.35775	T	-2.46	0.89534	N	0.799	0.79792	-0.9176	0.45877	T	0.116	0.40942	T	10	0.4928868	0.61096	T	0.032973	0.54655	D	0.265	0.57870	0.413	0.45052	0.123314135267	0.11883	0.8026092006539699	0.80214	0.853067745502	0.68633	0.826758265495	0.86066	D	0.112789	0.42933	T	0.0905887	0.63255	D	-0.107652	0.62798	T	0.985511183738708	0.76485	D	0.914509	0.70605	D	0.3830657	0.59537	0.3834336	0.63307	0.3830657	0.59538	0.3834336	0.63306	-2.711	0.07396	T	.	.	0.692	0.78182	P	.;.;.;.;.	.;.;.;.;.	4.463839	0.69498	25.4	0.99894373861998742	0.96742	0.98118	0.79751	D	AEFBI	0.769649	0.70484	D	0.468704941893592	0.65273	4.802	0.474441899660477	0.66302	4.934307	0.981484620248143	0.30269	0.732398	0.92422	0	0.588066	0.40923	0	0.743671	0.96076	0	0.613276	0.41899	0	.	.	4.88	4.01	0.45821	7.014000	0.76124	7.706000	0.66547	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.9231:0.0:0.0769	13.179	0.59067	910	0.22284	.;.;.;.;.	.	.	.	.	.	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	2114.98	36	chr2	195680089	.	C	T	2114.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.297e+00;DP=860;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.39;ReadPosRankSum=0.873;SOR=0.683	GT:AD:DP:GQ:PL	0/1:62,85:147:99:2129,0,1533	20	0	1	0
chr2	195777978	195777978	G	A	exonic	DNAH7	.	nonsynonymous SNV	DNAH7:NM_018897:exon59:c.C10886T:p.P3629L,	.	.	430	1090	1	1	0	3	0.00137426	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.951	P	0.684	P	0.000	D	1.000	D	4.415	H	2.15	T	-0.243	T	0.209	T	0.831	3.355	17.30	5.09	2.642	9.072	18.296	0.450	0.0278823255158	.	.	0.0003	0	0	0	0	0	0.0011	0.0018	0.000194	30	154602	rs749684293	0.0001	0.0001	6.825e-05	0.0002	0.0019	0.0001	0.0001	0.0016	0.0015	2.995e-05	2.252e-05	0	0	1.881e-05	0	1.263e-05	8.311e-05	0.0019	3.942e-05	3.94e-05	0	8.07e-05	0.0008	1.715e-05	1.129e-05	0.0003	0.0002	2.412e-05	0	0	0	0	0	0	1.47e-05	0	0.0008	0.0	0.91255	D	0.002	0.79402	D	0.951	0.53992	P	0.684	0.53582	P	0.000000	0.84330	D	0.000000	1	0.81001	D	4.465	0.98868	H	2.15	0.19311	T	-7.21	0.94249	D	0.937	0.94314	-0.2427	0.76556	T	0.209	0.56852	T	10	0.6306551	0.68497	D	0.027882	0.50634	D	0.450	0.75074	0.739	0.87147	0.366466682447	0.36252	0.8209870592762887	0.82055	0.138988599698	0.15674	0.78626036644	0.79874	T	0.243226	0.61212	T	-0.152075	0.27988	T	-0.010236	0.69669	D	0.88014429807663	0.53014	D	0.983002	0.94694	D	0.5338497	0.69049	0.4949509	0.70791	0.5338497	0.69050	0.4949509	0.70791	-10.406	0.76847	D	.	.	0.824	0.78422	P	.;.	.;.	4.134933	0.61910	24.4	0.998817656418021	0.95813	0.99059	0.90625	D	AEFI	0.888907	0.82249	D	0.851344270211589	0.89183	9.868605	0.713592458110147	0.83409	8.014478	0.999995311469717	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.573078	0.19857	0	0.564101	0.26826	0	.	.	5.09	5.09	0.68647	9.365000	0.96546	11.752000	0.95431	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.002000	0.04165	0.0:0.0:1.0:0.0	18.296	0.90088	935	0.14827	.;Dynein heavy chain 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	1106.98	33	chr2	195777978	.	G	A	1106.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.20;DP=742;ExcessHet=0.0000;FS=1.187;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=20.13;ReadPosRankSum=-7.000e-01;SOR=0.476	GT:AD:DP:GQ:PL	0/1:20,35:55:99:1121,0,556	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	0/1:44,28:72:99:333,0,797	0	0	19	2
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	0/2:24,1,5,0:30:24:24,96,702,0,496,524,117,665,535,684	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	0/2:24,1,5,0:30:24:24,96,702,0,496,524,117,665,535,684	2	0	4	0
chr2	205723836	205723836	G	A	exonic	NRP2	.	nonsynonymous SNV	NRP2:NM_003872:exon5:c.G716A:p.R239H	.	.	423	1098	1	0	0	1	0.000455166	.	.	3213628	NRP2-related_disorder	.	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.08	T	1.0	D	0.991	D	0.000	D	1.000	D	0.895	L	1.59	T	-0.988	T	0.143	T	0.208	3.928	19.99	5.91	2.813	6.080	20.296	0.080	0.019257099256	0.0002	0.000199681	0.0005	0.0004	0.0046	0	0	6.01e-05	0	0	0.0004657	72	154602	rs201324375	0.0002	0.0002	0.0002	0.0001	0.0039	0.0001	0.0001	0.0034	0.0032	0.0005	0.0039	0	0	0	0.0005	2.968e-05	3.311e-05	0	0.0003	0.0003	0.0002	0.0003	0.0009	0.0002	0.0002	0.0006	0.0004	0.0006	0	0.0009	0	0	0	0	2.94e-05	0	0	0.048	0.40573	D	0.24	0.24477	T	1.0	0.90584	D	0.991	0.79672	D	0.000005	0.62929	D	0.158570	1	0.81001	D	0.465	0.13073	N	1.59	0.28836	T	-0.96	0.36385	N	0.138	0.13626	-0.9878	0.33151	T	0.143	0.46477	T	10	0.013714761	0.00290	T	0.019257	0.41574	T	0.080	0.23350	.	.	0.411265580357	0.40742	0.24311061999317893	0.24225	0.316868486577	0.33939	0.467344284058	0.34316	T	0.033136	0.22788	T	-0.496906	0.00595	T	-0.486418	0.23767	T	0.0511793119906041	0.05706	T	0.940606	0.86445	D	0.38600624	0.59747	0.33420715	0.59249	0.34918052	0.57003	0.37911484	0.62974	-4.875	0.35656	T	.	.	0.062	0.05890	B	.;.;.;.;.;.	.;.;.;.;.;.	4.330156	0.66345	24.9	0.99902073970429894	0.97350	0.95656	0.65601	D	AEFBI	0.766863	0.70291	D	0.221997652301905	0.52265	3.40186	0.396415997026196	0.61342	4.333135	0.999999999832165	0.74766	0.706548	0.73137	0	0.588066	0.40923	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.91	5.91	0.95240	6.139000	0.71482	7.589000	0.61191	0.672000	0.70159	1.000000	0.71638	1.000000	0.68203	0.656000	0.32857	0.0:0.0:1.0:0.0	20.296	0.98558	861	0.33516	CUB domain|CUB domain|CUB domain|CUB domain;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	3431.98	35	chr2	205723836	.	G	A	3431.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.231;DP=936;ExcessHet=0.0000;FS=3.626;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.36;ReadPosRankSum=0.244;SOR=0.564	GT:AD:DP:GQ:PL	0/1:99,140:239:99:3446,0,2240	20	0	1	0
chr2	206596141	206596141	C	G	exonic	ADAM23	.	nonsynonymous SNV	ADAM23:NM_003812:exon24:c.C2338G:p.P780A,	.	.	436	1047	38	1	0	40	0.0187441	.	.	707968	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.74	T	0.001	B	0.002	B	0.189	N	1.000	N	0.75	N	4.69	T	-0.896	T	0.004	T	0.264	1.963	12.52	2.8	1.513	1.165	1.474	0.075	.	0.0025	0.00219649	0.0037	0.0006	0.0013	0.0007	0.0005	0.0035	0.0034	0.0110	0.0031759	491	154602	rs113518350	0.0030	0.0030	0.0028	0.0033	0.0156	0.0029	0.0029	0.0130	0.0120	0.0004	0.0019	0.0027	0.0007	0.0005	0.0156	0.0027	0.0037	0.0098	0.0023	0.0023	0.0020	0.0027	0.0112	0.0021	0.0021	0.0088	0.0080	0.0003	0	0.0031	0.0029	0	0.0004	0.0068	0.0032	0.0047	0.0112	0.085	0.43085	T	0.121	0.45318	T	0.001	0.07471	B	0.002	0.06944	B	0.188914	0.16899	N	0.537999	1	0.08975	N	-0.065	0.04868	N	4.69	0.01756	T	-1.03	0.39119	N	0.275	0.31140	-0.8956	0.48427	T	0.004	0.01192	T	10	0.0063527524	0.00143	T	.	.	.	0.075	0.21907	.	.	0.21174354426	0.20776	0.5654258129172468	0.56469	0.507152935348	0.48901	0.340717852116	0.16545	T	0.115572	0.43425	T	-0.550485	0.00290	T	-0.556545	0.16704	T	0.00918458632121738	0.00116	T	0.79722	0.44094	T	0.020270461	0.00579	0.026779955	0.00787	0.020270461	0.00579	0.026779955	0.00787	-4.039	0.24385	T	.	.	0.060	0.00876	B	.;.	.;.	1.127572	0.15138	11.62	0.97459621468008473	0.34074	0.12727	0.17443	N	AEFI	0.090498	0.18338	N	-0.577601829998057	0.19627	1.02865	-0.435499062123879	0.23963	1.309616	1.8076587734271E-4	0.05786	0.732398	0.92422	0	0.659464	0.62310	0	0.659464	0.59346	0	0.727631	0.95156	0	.	.	5.91	2.8	0.31881	1.049000	0.30001	3.952000	0.40682	0.599000	0.40250	0.000000	0.06391	0.999000	0.35428	0.607000	0.31564	0.31:0.3962:0.12:0.1737	1.474	0.02275	833	0.38804	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	908.98	34	chr2	206596141	.	C	G	908.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.815e+00;DP=779;ExcessHet=0.0000;FS=5.620;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.09;ReadPosRankSum=-3.070e-01;SOR=0.407	GT:AD:DP:GQ:PL	0/1:39,43:82:99:923,0,941	20	0	1	0
chr2	214934127	214934127	G	A	exonic	ABCA12	.	nonsynonymous SNV	ABCA12:NM_015657:exon44:c.C6677T:p.T2226I	Ichthyosis, congenital, autosomal recessive 4A, Autosomal recessive;Ichthyosis, congenital, autosomal recessive 4B (harlequin), Autosomal recessive	.	1	1516	4	1	0	6	0.00197498	.	.	719581	not_provided|Congenital_ichthyosis_of_skin|ABCA12-related_disorder	MedGen:C3661900|MedGen:C0020758|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.09	T	0.518	P	0.462	P	0.136	N	1.000	D	1.7	L	-1.72	D	-0.010	T	0.542	D	0.429	3.353	17.29	5.59	2.797	1.043	14.268	0.352	0.0377526259987	0.0020	0.00119808	0.0014	0.0003	0.0013	0	0.0002	0.0021	0	0.0007	0.0015006	232	154602	rs146834697	0.0024	0.0024	0.0024	0.0023	0.0056	0.0023	0.0023	0.0040	0.0035	0.0004	0.0019	0.0003	0	0.0001	0.0056	0.0028	0.0024	0.0005	0.0014	0.0014	0.0015	0.0013	0.0024	0.0013	0.0012	0.0021	0.0020	0.0004	0	0.0022	0.0003	0	9.423e-05	0.0034	0.0024	0.0014	0.0004	0.039	0.43393	D	0.035	0.52389	D	0.228	0.37483	B	0.14	0.46509	B	0.136249	0.18453	N	0.555420	0.63487	0.30667	N	1.425	0.35738	L	-1.72	0.83241	D	-3.12	0.63782	D	0.242	0.27316	-0.0097	0.82056	T	0.542	0.83146	D	10	0.015284419	0.00321	T	0.037753	0.57812	D	0.352	0.67326	.	.	0.701912758934	0.69933	0.3462876169233124	0.34542	0.197728138392	0.22142	0.46284943819	0.33701	T	0.483917	0.81145	T	-0.285099	0.10135	T	-0.185352	0.56023	T	0.0475143686642646	0.05056	T	0.592041	0.21827	T	0.11353767	0.26813	0.14413582	0.34231	0.10964388	0.25920	0.14422622	0.34248	-5.057	0.37452	T	0.3099596069436688	0.40780	0.088	0.17317	B	.;.	.;.	2.750442	0.36054	20.1	0.99847061573211404	0.92663	0.33027	0.24728	N	AEFDIJ	0.139222	0.26075	N	0.0506207718956736	0.44171	2.696058	0.124801669836326	0.45821	2.838526	0.0122582802688855	0.12301	0.693126	0.56070	0	0.659464	0.62310	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.59	5.59	0.84677	0.920000	0.28325	8.686000	0.78060	0.676000	0.76740	0.065000	0.21925	1.000000	0.68203	0.998000	0.85391	0.0:0.0:0.8505:0.1495	14.268	0.65682	869	0.31655	.;.	.	.	.	.	.	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	488.98	33	chr2	214934127	.	G	A	488.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.102;DP=731;ExcessHet=0.0000;FS=1.154;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.87;ReadPosRankSum=0.720;SOR=0.895	GT:AD:DP:GQ:PL	0/1:25,20:45:99:503,0,674	20	0	1	0
chr2	218392997	218392997	G	A	exonic	SLC11A1	.	nonsynonymous SNV	SLC11A1:NM_000578:exon12:c.G1181A:p.R394Q,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.52	T	0.112	B	0.064	B	0.001	D	0.981	D	1.645	L	-0.54	T	-0.896	T	0.218	T	0.54	0.772	8.081	2.97	0.629	3.111	8.350	0.302	0.0676440376857	0.0015	0.00179712	0.0004	0.0047	0	0	0	4.518e-05	0.0011	0	0.000401	62	154602	rs145676383	0.0001	0.0001	0.0002	0.0001	0.0049	0.0001	0.0001	0.0043	0.0040	0.0049	2.355e-05	0	0	2.059e-05	0	1.992e-05	0.0002	0	0.0011	0.0011	0.0010	0.0012	0.0039	0.0010	0.0009	0.0034	0.0032	0.0039	0	0.0003	0	0	0	0	5.881e-05	0	0	0.449	0.09022	T	0.363	0.16815	T	0.064	0.23455	B	0.044	0.24394	B	0.000774	0.41888	D	0.097179	0.980676	0.39692	D	2.17	0.60663	M	-0.54	0.70950	T	-0.3	0.11913	N	0.427	0.46649	-0.8964	0.48351	T	0.218	0.58111	T	10	0.016892731	0.00358	T	0.067644	0.70225	D	0.302	0.62290	.	.	0.797896232723	0.79601	0.46412477515687756	0.46331	0.539507297638	0.51178	0.467947304249	0.34398	T	0.361246	0.72736	T	-0.301714	0.08499	T	-0.205489	0.54126	T	0.110645136494719	0.13490	T	0.928807	0.73814	D	0.14301929	0.32888	0.1443625	0.34277	0.14301929	0.32888	0.1443625	0.34276	-7.043	0.54347	T	.	.	0.084	0.09820	B	.	.	3.826502	0.55281	23.6	0.83925678450489793	0.14997	0.91581	0.53828	D	AEFBI	0.564335	0.57116	D	-0.672809357258164	0.16798	0.8590538	-0.63704797720503	0.18544	0.9910999	0.999991440954263	0.74766	0.428477	0.06694	0	0.547309	0.14657	0	0.491513	0.07944	0	0.613276	0.41899	0	.	.	4.75	2.97	0.33479	2.859000	0.48063	5.738000	0.49558	-0.137000	0.12594	1.000000	0.71638	1.000000	0.68203	0.056000	0.15673	0.238:0.0:0.762:0.0	8.350	0.31456	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	0	0	0	0	0.02381	971.98	39	chr2	218392997	.	G	A	971.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.18;DP=896;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.44;ReadPosRankSum=-2.559e+00;SOR=0.774	GT:AD:DP:GQ:PL	0/1:46,39:85:99:986,0,1104	20	0	1	0
chr2	218814752	218814752	G	A	exonic	CYP27A1	.	nonsynonymous SNV	CYP27A1:NM_000784:exon8:c.G1471A:p.A491T,	Cerebrotendinous xanthomatosis, Autosomal recessive	YES	1	1517	3	1	0	5	0.00164528	.	.	588867	not_provided|Cholestanol_storage_disease	MedGen:C3661900|MONDO:MONDO:0008948,MedGen:C0238052,OMIM:213700,Orphanet:909	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.74	T	0.17	B	0.053	B	0.677	N	0.945	N	0.75	N	-0.61	T	-0.933	T	0.136	T	0.145	2.602	14.66	-6.59	-0.802	-0.231	8.411	0.150	0.0350283932694	.	.	0.0002	9.86e-05	8.666e-05	0	0	6.029e-05	0.0011	0.0014	0.0002005	31	154602	rs72551323	0.0001	0.0001	9.665e-05	0.0002	0.0016	0.0001	0.0001	0.0014	0.0013	2.987e-05	2.236e-05	0	2.519e-05	0	0.0003	4.676e-05	0.0001	0.0016	5.253e-05	5.249e-05	1.285e-05	9.399e-05	0.0008	2.555e-05	1.829e-05	0.0003	0.0002	0	0	0	0	0.0002	0	0	4.411e-05	0	0.0008	0.186	0.21467	T	0.856	0.03447	T	0.17	0.28703	B	0.053	0.25678	B	0.676874	0.10292	N	0.865163	0.945027	0.26673	N	0.405	0.12330	N	-0.61	0.71779	T	-1.02	0.26843	N	0.124	0.11626	-0.9334	0.43636	T	0.136	0.45203	T	10	0.040766925	0.02674	T	0.035028	0.56072	D	0.150	0.39571	0.703	0.83962	0.548274029423	0.54483	0.6164338760507196	0.61575	0.18806904077	0.21130	0.286449611187	0.08407	T	0.271663	0.64401	T	-0.470155	0.00848	T	-0.4782	0.24638	T	0.0231964028690463	0.01046	T	0.749925	0.37107	T	0.05457275	0.10490	0.07379493	0.16076	0.05457275	0.10489	0.07379493	0.16075	-3.884	0.22062	T	.	.	0.068	0.02894	B	.	.	0.901670	0.12757	9.275	0.97515636428330377	0.34373	0.15099	0.18744	N	AEFDBI	0.631413	0.61240	D	-0.984637699777554	0.08931	0.4206902	-0.983030221775649	0.10166	0.5103083	0.947871977666594	0.27774	0.706298	0.61202	0	0.59043	0.45803	0	0.709663	0.75317	0	0.635551	0.53088	0	.	.	5.25	-6.59	0.01663	-0.570000	0.05986	0.483000	0.18825	0.676000	0.76740	0.000000	0.06391	0.977000	0.30130	0.948000	0.49324	0.1032:0.0:0.4554:0.4414	8.411	0.31801	877	0.30165	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0.02381	2151.98	33	chr2	218814752	.	G	A	2151.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.301e+00;DP=850;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.55;ReadPosRankSum=-1.115e+00;SOR=0.684	GT:AD:DP:GQ:PL	0/1:54,76:130:99:2166,0,1454	20	0	1	0
chr2	219243275	219243275	G	A	exonic	GLB1L	.	nonsynonymous SNV	GLB1L:NM_001286427:exon2:c.C112T:p.R38W	.	.	428	1085	9	0	0	9	0.00413034	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	1.0	D	0.97	D	0.000	D	0.939	N	1.935	M	-4.66	D	0.491	D	0.871	D	0.453	3.977	20.4	-3.5	-0.399	1.463	5.273	0.575	.	0.0087	0.00259585	0.0068	0.0014	0.0040	0	0.0044	0.0108	0.0067	0.0007	0.0068822	1064	154602	rs147143842	0.0099	0.0099	0.0101	0.0097	0.0114	0.0098	0.0097	0.0113	0.0112	0.0015	0.0044	0.0207	0	0.0060	0.0061	0.0114	0.0093	0.0007	0.0070	0.0070	0.0074	0.0066	0.0112	0.0067	0.0065	0.0105	0.0103	0.0016	0.0077	0.0065	0.0184	0	0.0040	0.0170	0.0112	0.0095	0.0004	0.024	0.51853	D	0.026	0.55759	D	1.0	0.90584	D	0.97	0.72226	D	0.000137	0.49741	D	0.202993	0.938989	0.37244	D	1.385	0.34509	L	-4.66	0.97956	D	-1.72	0.62518	N	0.561	0.59053	0.491	0.90426	D	0.871	0.95714	D	10	0.01218161	0.00263	T	.	.	.	0.575	0.82799	.	.	0.925340796799	0.92457	0.9046638995884472	0.90439	0.477561364981	0.46870	0.378485739231	0.22042	T	0.329703	0.69997	T	-0.166765	0.25724	T	-0.00129239	0.70252	D	0.0284773564498797	0.01757	T	0.979469	0.92930	D	0.06440651	0.13662	0.06209622	0.12097	0.06440651	0.13662	0.06209622	0.12097	-9.983	0.78021	D	.	.	0.217	0.48685	B	.;.;.;.	.;.;.;.	3.809092	0.54931	23.5	0.99699522597256462	0.80522	0.43034	0.27009	N	AEFDBI	.	.	.	-0.215767279576666	0.32486	1.832623	-0.37052429556196	0.25880	1.426008	0.999891463691938	0.45129	0.615465	0.37627	0	0.588066	0.40923	0	0.658983	0.55881	0	0.272564	0.05371	3	.	.	5.49	-3.5	0.04411	1.446000	0.34701	0.044000	0.13909	-0.114000	0.14653	1.000000	0.71638	0.006000	0.19429	0.970000	0.54328	0.1871:0.0688:0.5034:0.2407	5.273	0.14947	535	0.73288	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	1255.98	35	chr2	219243275	.	G	A	1255.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.02;DP=826;ExcessHet=0.0000;FS=1.515;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.21;ReadPosRankSum=-3.480e-01;SOR=0.797	GT:AD:DP:GQ:PL	0/1:65,47:112:99:1270,0,1599	20	0	1	0
chr2	219300042	219300042	C	T	exonic	PTPRN	.	nonsynonymous SNV	PTPRN:NM_001199763:exon9:c.G1379A:p.G460E	.	.	423	1089	10	0	0	10	0.00457038	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.001	B	0.001	B	0.155	N	1.000	N	0.345	N	4.03	T	-0.907	T	0.005	T	0.093	-1.602	0.014	2.37	1.031	0.393	3.150	0.033	.	.	0.00259585	0.0016	9.623e-05	0.0005	0	0	0.0003	0.0077	0.01	0.0013842	214	154602	rs200184183	0.0007	0.0007	0.0004	0.0010	0.0094	0.0007	0.0007	0.0089	0.0087	2.987e-05	0.0001	0.0012	0	0	0.0010	0.0001	0.0008	0.0094	0.0005	0.0005	0.0003	0.0007	0.0099	0.0004	0.0004	0.0077	0.0069	0	0	0	0.0012	0.0002	0	0.0170	0.0002	0	0.0099	0.044	0.41096	D	0.84	0.13792	T	0.0	0.02946	B	0.001	0.04355	B	0.154834	0.17849	N	0.541618	1	0.08975	N	1.04	0.26193	L	4.03	0.03208	T	-0.68	0.22078	N	0.18	0.19459	-0.9070	0.47215	T	0.005	0.01797	T	10	0.0048052967	0.00102	T	.	.	.	0.033	0.08068	.	.	0.31411915649	0.31020	0.2274703603959591	0.22662	0.126750937996	0.14284	0.318410158157	0.13181	T	0.160316	0.50411	T	-0.665992	0.00058	T	-0.721751	0.04711	T	0.00995866925869084	0.00133	T	0.865113	0.56350	D	0.048470564	0.08453	0.05674674	0.10194	0.048470564	0.08452	0.05674674	0.10193	-3.31	0.25481	T	.	.	0.132	0.28435	B	.;.;.	.;.;.	1.359630	0.17685	13.31	0.63562356176249368	0.07257	0.02592	0.07153	N	AEFDBI	0.091323	0.18500	N	-0.969139738591043	0.09268	0.4379261	-0.896627122801785	0.12174	0.6246631	0.99975300935498	0.42595	0.646311	0.45356	0	0.627178	0.54094	0	0.645312	0.48771	0	0.530356	0.10902	0	.	.	4.36	2.37	0.28337	0.262000	0.18229	1.094000	0.24007	0.599000	0.40250	0.001000	0.13787	0.216000	0.23679	0.162000	0.20715	0.0:0.4744:0.2198:0.3058	3.150	0.06097	142	0.94345	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	1482.98	34	chr2	219300042	.	C	T	1482.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.263;DP=845;ExcessHet=0.0000;FS=3.227;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.77;ReadPosRankSum=0.947;SOR=0.558	GT:AD:DP:GQ:PL	0/1:64,62:126:99:1497,0,1577	20	0	1	0
chr2	225582054	225582054	A	G	exonic	NYAP2	.	nonsynonymous SNV	NYAP2:NM_020864:exon4:c.A637G:p.K213E	.	.	432	1088	2	0	0	2	0.000918274	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.66	T	0.056	B	0.049	B	0.081	N	1.000	N	1.87	L	0.97	T	-1.026	T	0.053	T	0.104	1.196	9.861	3.4	0.436	2.890	12.639	0.044	.	0.0071	0.00858626	0.0023	0.0263	0.0011	0	0	6.009e-05	0.0022	6.058e-05	0.0022057	341	154602	rs61741087	0.0008	0.0008	0.0009	0.0007	0.0279	0.0008	0.0008	0.0264	0.0258	0.0279	0.0014	0	0	0	0.0010	7.285e-05	0.0014	0.0001	0.0077	0.0077	0.0079	0.0075	0.0269	0.0073	0.0072	0.0256	0.0251	0.0269	0	0.0024	0	0	0	0	8.82e-05	0.0052	0	0.261	0.16520	T	0.436	0.13480	T	0.056	0.22806	B	0.049	0.25116	B	0.080957	0.20894	N	0.474501	1	0.08975	N	2.24	0.63355	M	0.97	0.42502	T	-0.96	0.25551	N	0.496	0.52918	-1.0255	0.21919	T	0.053	0.22307	T	10	0.005761951	0.00128	T	.	.	.	0.044	0.11924	.	.	0.043077524339	0.03247	0.09454494071060135	0.09386	0.476995590806	0.46822	0.525978386402	0.42468	T	0.026332	0.19511	T	-0.593015	0.00161	T	-0.602972	0.12563	T	0.0166023280640928	0.00421	T	0.855414	0.54290	D	0.21156769	0.43485	0.1904103	0.42443	0.21156769	0.43485	0.1904103	0.42442	-7.309	0.56260	T	.	.	0.202	0.42592	B	.;.	.;.	2.501544	0.32295	19.00	0.97669953080651306	0.35247	0.74279	0.36335	D	AEFI	0.247992	0.36847	N	-0.383140047421098	0.26069	1.419973	-0.286951762695982	0.28527	1.591323	4.00971151410331E-4	0.06820	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.9	3.4	0.38031	2.895000	0.48347	4.562000	0.43845	0.750000	0.87069	0.991000	0.37257	0.999000	0.35428	0.883000	0.42306	0.7385:0.2615:0.0:0.0	12.639	0.56058	691	0.58815	Neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adapter, N-terminal;Neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adapter, N-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	2602.98	35	chr2	225582054	.	A	G	2602.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.116;DP=963;ExcessHet=0.0000;FS=1.115;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.42;ReadPosRankSum=0.131;SOR=0.774	GT:AD:DP:GQ:PL	0/1:91,103:194:99:2617,0,2252	20	0	1	0
chr2	230865087	230865087	C	T	exonic	ITM2C	.	nonsynonymous SNV	ITM2C:NM_001012514:exon1:c.C62T:p.A21V	.	.	431	1073	18	0	0	18	0.00831793	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.33	T	0.958	D	0.204	B	0.137	U	1.000	D	0	N	1.92	T	-1.118	T	0.047	T	0.232	1.502	10.97	2.18	1.778	1.703	6.884	0.038	.	0.0051	0.00319489	0.0127	0.0028	0.0245	0	0.0307	0.0205	0.0054	0.0021	0.0043272	669	154602	rs149334809	0.0074	0.0074	0.0074	0.0074	0.0295	0.0073	0.0072	0.0258	0.0244	0.0017	0.0057	0.0121	0	0.0073	0.0295	0.0081	0.0071	0.0009	0.0060	0.0060	0.0061	0.0059	0.0097	0.0057	0.0056	0.0091	0.0089	0.0014	0.0022	0.0038	0.0107	0	0.0067	0.0102	0.0097	0.0085	0.0012	0.253	0.31834	T	0.18	0.29442	T	0.93	0.54977	P	0.101	0.37039	B	0.137335	0.18416	U	0.313700	0.96396	0.26002	N	0.69	0.16971	N	1.5	0.59851	T	-0.87	0.25770	N	0.118	0.38129	-1.1182	0.02448	T	0.047	0.19958	T	10	0.0030137002	0.00049	T	.	.	.	0.038	0.09825	.	.	0.652612595319	0.64972	0.3464085266059002	0.34554	0.286032070692	0.31010	0.75061070919	0.74537	T	0.016355	0.13533	T	-0.468964	0.00863	T	-0.434734	0.29399	T	0.00540732706620864	0.00059	T	0.80292	0.46458	T	0.070502795	0.15535	0.06573638	0.13366	0.070502795	0.15535	0.06573638	0.13366	-4.756	0.34074	T	.	.	0.115	0.24934	B	.;.;.;.	.;.;.;.	2.815104	0.37074	20.4	0.99272703967946552	0.57627	0.49899	0.28539	N	ALL	0.145095	0.26822	N	-0.342391479532855	0.27552	1.512599	-0.307804334956785	0.27846	1.548071	0.999999999981601	0.74766	0.65757	0.49021	0	0.52208	0.09955	0	0.52208	0.10781	0	0.604282	0.37693	0	.	.	3.18	2.18	0.26813	0.535000	0.22822	2.789000	0.34784	0.586000	0.30580	0.459000	0.26636	0.994000	0.32194	0.962000	0.52141	0.2752:0.7247:0.0:0.0	6.884	0.23370	634	0.64659	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	1118.98	34	chr2	230865087	.	C	T	1118.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.730e-01;DP=794;ExcessHet=0.0000;FS=1.534;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.27;ReadPosRankSum=0.900;SOR=0.687	GT:AD:DP:GQ:PL	0/1:59,50:109:99:1133,0,1398	20	0	1	0
chr2	232819834	232819834	C	T	exonic	GIGYF2	.	nonsynonymous SNV	GIGYF2:NM_001103148:exon20:c.C2360T:p.A787V	.	YES	3	1518	0	1	0	2	0.000658328	.	.	213536	Parkinson_disease_11,_autosomal_dominant,_susceptibility_to|not_provided	MONDO:MONDO:0011896,MedGen:C4083045,OMIM:607688,Orphanet:411602|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.2	T	0.965	D	0.722	P	0.000	D	1.000	D	1.245	L	-1.05	T	-0.209	T	0.448	T	0.381	3.660	18.60	5.04	2.333	6.007	18.385	0.361	0.0940817379065	.	.	2.61e-05	0	0	0	0	4.74e-05	0	0	2.59e-05	4	154602	rs748538823	5.936e-05	6.668e-05	6.085e-05	5.786e-05	0.0059	4.756e-05	4.352e-05	0.0041	0.0035	8.053e-05	0.0001	5.804e-05	0	0	0.0059	3.389e-05	0.0001	2.469e-05	5.961e-05	6.407e-05	3.148e-05	9.276e-05	0.0003	2.773e-05	1.889e-05	3.158e-05	2.012e-05	0	0	0.0001	0	0	0	0	8.077e-05	0	0.0003	0.043	0.46513	D	0.25	0.24123	T	0.888	0.48822	P	0.3	0.41053	B	0.000000	0.84330	D	0.051269	0.999999	0.58761	D	.	.	.	-1.05	0.76690	T	-0.92	0.27669	N	0.507	0.53884	-0.2087	0.77447	T	0.448	0.78336	T	10	0.31536648	0.48969	T	0.094082	0.76188	D	0.361	0.68141	.	.	0.292174397486	0.28832	0.1570317945368268	0.15624	0.302835185573	0.32607	0.783016264439	0.79384	T	0.12152	0.44453	T	-0.0871847	0.38541	T	-0.176474	0.56848	T	0.341248321631318	0.26673	T	0.948505	0.92647	D	0.3058027	0.53420	0.19343862	0.42913	0.26395226	0.49461	0.16504398	0.38201	-6.648	0.51418	T	.	.	0.194	0.42834	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	4.721988	0.75965	26.4	0.99710176912624282	0.81283	0.99464	0.96353	D	AEFBI	0.726708	0.67528	D	0.353107381105094	0.58902	4.065608	0.411998168311791	0.62312	4.44446	0.999999893934508	0.74766	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.727631	0.95156	0	.	.	5.04	5.04	0.67293	5.062000	0.64156	7.687000	0.65600	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.953000	0.50222	0.0:1.0:0.0:0.0	18.385	0.90408	810	0.42761	.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0.025	731.33	66	chr2	232819834	.	C	T	731.33	.	AC=1;AF=0.025;AN=40;BaseQRankSum=-1.172e+00;DP=1231;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0371;MLEAC=1;MLEAF=0.025;MQ=60.00;MQRankSum=0.00;QD=14.06;ReadPosRankSum=-8.150e-01;SOR=0.732	GT:AD:DP:GQ:PL	0/1:27,25:52:99:745,0,891	19	0	1	1
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	0/1:88,61,0:149:99:.:.:2048,0,3320,2312,3504,5816	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	0/1:88,61,0:149:99:.:.:2048,0,3320,2312,3504,5816	6	4	10	0
chr2	233204551	233204551	C	T	exonic	INPP5D	.	nonsynonymous SNV	INPP5D:NM_001017915:exon26:c.C3401T:p.P1134L	.	.	423	1096	3	0	0	3	0.00136674	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.59	T	0.001	B	0.001	B	0.019	U	1.000	N	.	.	-3.91	D	0.020	D	0.660	D	0.388	-1.661	0.012	-4.16	-0.519	-0.440	4.246	0.354	0.147818789023	.	0.000399361	0.0004	0	0.0008	0	0	0.0006	0	0	0.0001552	24	154602	rs532718867	0.0002	0.0002	0.0002	0.0002	0.0047	0.0002	0.0002	0.0033	0.0029	3.089e-05	0.0011	0.0004	0	2.048e-05	0.0047	0.0001	0.0007	4.932e-05	0.0004	0.0004	0.0003	0.0004	0.0018	0.0003	0.0003	0.0012	0.0011	7.215e-05	0	0.0018	0	0	0	0	0.0003	0.0009	0	0.177	0.22224	T	0.819	0.04181	T	0.001	0.07471	B	0.001	0.04355	B	0.019133	0.01504	U	6.006070	1	0.08975	N	.	.	.	-3.96	0.96208	D	-1.05	0.27463	N	0.055	0.03283	0.020	0.82663	D	0.660	0.88197	D	9	0.0176723	0.00379	T	0.147819	0.82980	D	0.354	0.67510	.	.	0.315609569513	0.31162	0.09317335944909032	0.09249	0.584107567837	0.54097	0.385226637125	0.22995	T	0.250897	0.62107	T	-0.228416	0.16858	T	-0.158656	0.58472	T	0.0236219805652542	0.01098	T	.	.	.	0.02409736	0.01209	0.026626023	0.00762	0.02409736	0.01209	0.026626023	0.00762	-4.762	0.34145	T	.	.	0.059	0.01252	B	.;.;.	.;.;.	0.502921	0.08720	5.493	0.85495525980243048	0.15928	0.13060	0.17640	N	AEFDBCI	0.037793	0.05251	N	-1.62464319502627	0.01147	0.04981579	-1.70578497543546	0.01112	0.04997918	0.999897924454708	0.45129	0.631515	0.41029	0	0.697927	0.68747	0	0.645312	0.48771	0	0.683762	0.67416	0	.	.	4.09	-4.16	0.03606	-0.439000	0.06967	-0.450000	0.09105	-0.926000	0.02173	0.000000	0.06391	0.000000	0.08366	0.012000	0.09680	0.4117:0.3774:0.0:0.2108	4.246	0.10123	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	0	0	0	0	0.02381	1473.98	33	chr2	233204551	.	C	T	1473.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.12;DP=1014;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.20;ReadPosRankSum=-4.230e-01;SOR=0.641	GT:AD:DP:GQ:PL	0/1:41,50:91:99:1488,0,907	20	0	1	0
chr2	233713263	233713263	G	A	exonic	UGT1A5	.	nonsynonymous SNV	UGT1A5:NM_019078:exon1:c.G272A:p.R91H,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.12	T	0.0	B	0.001	B	0.006	N	1.000	N	0.86	L	0.19	T	-1.012	T	0.130	T	0.116	1.310	10.29	-0.951	-0.052	-2.367	4.796	0.046	0.00753162089594	0.0002	0.000599042	0.0002	0.0004	8.637e-05	0	0	0.0003	0.0011	6.056e-05	0.000207	32	154602	rs146477190	0.0002	0.0002	0.0002	0.0002	0.0023	0.0002	0.0002	0.0013	0.0011	0.0004	0.0007	0	2.519e-05	0	0.0023	0.0002	0.0002	4.637e-05	0.0002	0.0002	0.0003	0.0002	0.0010	0.0002	0.0002	0.0007	0.0005	0.0002	0	0.0010	0	0	0	0.0034	0.0002	0.0005	0	0.143	0.25355	T	0.126	0.35205	T	0.0	0.02946	B	0.001	0.04355	B	0.005512	0.01082	N	2.671850	0.999998	0.08975	N	-0.55	0.02420	N	0.19	0.60236	T	-0.02	0.07299	N	0.04	0.01347	-1.0123	0.26196	T	0.130	0.43968	T	10	0.010831237	0.00239	T	0.007532	0.19979	T	0.046	0.12618	.	.	0.352048277211	0.34822	0.11379301854272544	0.11307	0.202802321583	0.22698	.	.	.	0.054366	0.29704	T	-0.555941	0.00268	T	-0.671048	0.07542	T	0.00400212585119706	0.00042	T	0.39826	0.10085	T	0.027412951	0.01931	0.02383666	0.00397	0.027412951	0.01930	0.02383666	0.00397	-4.086	0.25083	T	0.09600375939302476	0.06596	0.073	0.04640	B	.	.	-0.776105	0.01154	0.055	0.91828188306988989	0.21138	0.01117	0.04079	N	AEFBCI	0.072876	0.14559	N	-1.2537209038352	0.04250	0.1914851	-1.29588461189858	0.04486	0.2117138	0.989349224192145	0.31795	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	4.83	-0.951	0.09840	-2.581000	0.00981	-9.493000	0.00814	-0.602000	0.04611	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.4885:0.2834:0.2281:0.0	4.796	0.12639	481	0.77356	.	.	.	.	.	.	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	2469.98	33	chr2	233713263	.	G	A	2469.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.975;DP=1789;ExcessHet=0.0000;FS=5.282;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.03;ReadPosRankSum=2.26;SOR=0.648	GT:AD:DP:GQ:PL	0/1:87,89:176:99:2484,0,2278	20	0	1	0
chr2	233729862	233729862	G	T	exonic	UGT1A3	.	nonsynonymous SNV	UGT1A3:NM_019093:exon1:c.G736T:p.V246L,	.	.	418	1092	9	3	0	15	0.00682128	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.65	T	0.88	P	0.651	P	.	.	1.000	N	-0.145	N	0.14	T	-1.045	T	0.103	T	0.133	-0.697	0.980	3.1	0.641	-1.663	4.207	0.107	0.0202958720907	0.0003	0.000399361	0.0008	0	0.0005	0.0001	0	0.0011	0.0022	0.0008	0.000705	109	154602	rs146461519	0.0005	0.0005	0.0004	0.0006	0.0075	0.0005	0.0005	0.0057	0.0051	0.0001	0.0009	0.0011	2.519e-05	3.744e-05	0.0075	0.0004	0.0012	0.0013	0.0004	0.0004	0.0004	0.0004	0.0008	0.0004	0.0003	0.0005	0.0005	7.226e-05	0	0.0005	0.0012	0	0	0.0068	0.0007	0.0005	0.0008	0.647	0.04897	T	0.671	0.06284	T	0.88	0.48402	P	0.651	0.52497	P	.	.	.	.	1	0.08975	N	0.65	0.16133	N	0.14	0.60854	T	-0.12	0.08809	N	0.051	0.02272	-1.0446	0.15942	T	0.103	0.37869	T	9	0.020301044	0.00466	T	0.020296	0.42866	T	0.107	0.30369	0.35	0.34760	0.556500605119	0.55309	0.23874016186969665	0.23788	0.0746738777092	0.08380	.	.	.	0.062271	0.31873	T	-0.539274	0.00338	T	-0.592958	0.13411	T	0.0331653533117172	0.02498	T	0.250275	0.03772	T	0.057707038	0.11518	0.05807759	0.10671	0.057707038	0.11517	0.05807759	0.10670	-1.683	0.02185	T	0.11112597090426783	0.09469	0.163	0.36073	B	.	.	0.536588	0.09050	5.835	0.69367463529244211	0.08949	0.09681	0.15382	N	AEFBI	0.755393	0.69497	D	-0.722585577991354	0.15387	0.7750542	-0.823032687513184	0.13937	0.7257032	0.00719069019561272	0.11405	0.487112	0.14033	0	0.547309	0.14657	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	4.0	3.1	0.34780	-0.661000	0.05410	-2.619000	0.03542	0.520000	0.23804	0.000000	0.06391	0.000000	0.08366	0.043000	0.14563	0.0899:0.3876:0.3797:0.1428	4.207	0.09952	509	0.75304	.	.	.	.	.	.	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	5529.11	105	chr2	233729862	.	G	T	5529.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.38;DP=2436;ExcessHet=0.1072;FS=1.104;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=59.98;MQRankSum=0.966;QD=11.94;ReadPosRankSum=0.376;SOR=0.610	GT:AD:DP:GQ:PL	0/1:125,108:233:99:2824,0,3406	19	0	2	0
chr2	237336528	237336528	C	T	exonic	COL6A3	.	nonsynonymous SNV	COL6A3:NM_057166:exon37:c.G6751A:p.V2251I	Bethlem myopathy 1, Autosomal recessive, Autosomal dominant;Dystonia 27, Autosomal recessive;Ullrich congenital muscular dystrophy 1, Autosomal recessive, Autosomal dominant	.	0	1519	3	0	0	3	0.000986518	.	.	134272	Bethlem_myopathy_1A|Collagen_6-related_myopathy|not_specified	MONDO:MONDO:0024530,MedGen:CN029274,OMIM:158810,Orphanet:610|MONDO:MONDO:0100225,MedGen:CN117976|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.4	T	0.0	B	0.002	B	0.419	N	1.000	N	1.32	L	-2.35	D	-0.700	T	0.383	T	0.054	0.110	4.590	-10.2	-2.810	-1.507	9.120	0.231	.	0.0035	0.00319489	0.0011	0.0111	0.0008	0	0	0.0001	0.0011	0.0002	0.0011125	172	154602	rs111859552	0.0005	0.0005	0.0005	0.0004	0.0118	0.0005	0.0004	0.0109	0.0105	0.0118	0.0012	0	0	0	0.0033	0.0001	0.0011	0.0002	0.0036	0.0036	0.0037	0.0035	0.0124	0.0034	0.0033	0.0115	0.0112	0.0124	0	0.0010	0	0	0	0.0034	0.0001	0.0033	0	0.358	0.12109	T	0.412	0.14456	T	0.0	0.02946	B	0.002	0.06944	B	0.418538	0.04634	N	1.468180	1	0.08975	N	0.365	0.12025	N	-2.36	0.88377	D	-0.04	0.08340	N	0.043	0.01577	-0.7004	0.60419	T	0.383	0.73907	T	10	0.0036545992	0.00067	T	.	.	.	0.231	0.53208	.	.	0.404592120364	0.40076	0.11917684577925919	0.11844	0.119002608991	0.13405	0.222876816988	0.01482	T	0.130297	0.45911	T	-0.521475	0.00431	T	-0.512444	0.21063	T	0.00249116044340943	0.00026	T	0.530047	0.18539	T	0.023113402	0.01025	0.028142508	0.01024	0.015764868	0.00156	0.026346643	0.00719	-3.403	0.15097	T	0.13527209547895142	0.14688	0.062	0.01233	B	.;.;.;.;.	.;.;.;.;.	-0.706997	0.01305	0.070	0.73237855883655534	0.10256	0.02636	0.07232	N	AEFDBHCI	0.064662	0.12568	N	-1.75622507375652	0.00661	0.02853007	-1.89420842077797	0.00503	0.02227125	0.999999999264868	0.74766	0.615465	0.37627	0	0.586423	0.34054	0	0.658983	0.55881	0	0.542086	0.14980	0	.	.	5.09	-10.2	0.00305	-0.889000	0.04252	-2.121000	0.04181	-0.985000	0.01878	0.000000	0.06391	0.000000	0.08366	0.582000	0.30943	0.0:0.2005:0.1982:0.6013	9.120	0.35945	955	0.09969	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.02381	1847.98	39	chr2	237336528	.	C	T	1847.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.249e+00;DP=919;ExcessHet=0.0000;FS=2.288;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.69;ReadPosRankSum=-2.780e-01;SOR=0.911	GT:AD:DP:GQ:PL	0/1:63,72:135:99:1862,0,1627	20	0	1	0
chr2	237340988	237340988	G	A	exonic	COL6A3	.	nonsynonymous SNV	COL6A3:NM_057166:exon35:c.C6107T:p.A2036V	Bethlem myopathy 1, Autosomal recessive, Autosomal dominant;Dystonia 27, Autosomal recessive;Ullrich congenital muscular dystrophy 1, Autosomal recessive, Autosomal dominant	.	0	1518	4	0	0	4	0.00131579	.	.	134270	Bethlem_myopathy_1A|not_provided|Collagen_6-related_myopathy|Ullrich_congenital_muscular_dystrophy_1A|not_specified	MONDO:MONDO:0024530,MedGen:CN029274,OMIM:158810,Orphanet:610|MedGen:C3661900|MONDO:MONDO:0100225,MedGen:CN117976|MONDO:MONDO:0009681,MedGen:C0410179,OMIM:254090,Orphanet:75840|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.33	T	0.998	D	0.817	P	0.796	N	1.000	N	1.61	L	-1.69	D	-0.281	T	0.491	T	0.13	1.623	11.38	-3.24	-0.343	1.769	17.353	0.309	.	0.0044	0.00439297	0.0022	0.0125	0.0012	0	0.0003	0.0017	0.0022	0.0004	0.002128	329	154602	rs111595697	0.0014	0.0014	0.0015	0.0012	0.0132	0.0013	0.0013	0.0122	0.0118	0.0132	0.0015	0.0010	2.519e-05	0.0007	0.0052	0.0011	0.0023	0.0005	0.0045	0.0045	0.0047	0.0043	0.0136	0.0042	0.0041	0.0127	0.0123	0.0136	0	0.0015	0.0006	0	9.414e-05	0.0034	0.0011	0.0061	0.0006	0.041	0.41915	D	0.003	0.76473	D	0.519	0.73220	P	0.084	0.58928	B	0.795531	0.06737	N	1.140080	1	0.08975	N	1.22	0.30592	L	-1.69	0.93352	D	-2.02	0.48184	N	0.218	0.32921	-0.2807	0.75522	T	0.491	0.80658	T	10	0.00923264	0.00209	T	.	.	.	0.309	0.63055	.	.	0.813045995287	0.81129	0.3948633986367722	0.39401	0.146965676242	0.16583	0.327437072992	0.14547	T	0.278769	0.65143	T	-0.348103	0.04848	T	-0.262414	0.48584	T	0.0142106321201575	0.00280	T	0.870213	0.57812	D	0.075202726	0.16927	0.11716758	0.28285	0.082082115	0.18892	0.114061296	0.27529	-4.648	0.32769	T	0.2066272627534808	0.27597	0.120	0.30971	B	.;.;.;.;.	.;.;.;.;.	1.809854	0.23000	15.85	0.80259997724695853	0.13119	0.20378	0.21019	N	AEFBI	0.389793	0.46887	N	-0.666857349266328	0.16971	0.8693433	-0.786314942363489	0.14830	0.7769681	0.996767896518327	0.34990	0.632932	0.41330	0	0.59043	0.45803	0	0.601832	0.32385	0	0.542086	0.14980	0	.	.	5.05	-3.24	0.04779	1.822000	0.38690	0.008000	0.13396	-0.179000	0.10443	0.078000	0.22289	0.000000	0.08366	0.924000	0.46004	0.0:0.135:0.7831:0.082	17.353	0.87217	955	0.09969	.;von Willebrand factor, type A|von Willebrand factor, type A|von Willebrand factor, type A;.;von Willebrand factor, type A|von Willebrand factor, type A|von Willebrand factor, type A;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.02381	2242.98	39	chr2	237340988	.	G	A	2242.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-7.430e-01;DP=1126;ExcessHet=0.0000;FS=4.336;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.67;ReadPosRankSum=0.339;SOR=0.540	GT:AD:DP:GQ:PL	0/1:91,86:177:99:2257,0,2405	20	0	1	0
chr2	240129931	240129931	G	A	exonic	COPS9	.	nonsynonymous SNV	COPS9:NM_138336:exon4:c.C361T:p.R121W,	.	.	428	1085	9	0	0	9	0.00413034	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.0	B	0.0	B	.	.	1.000	N	.	.	.	.	-1.049	T	0.049	T	0.049	-0.784	0.721	-3.09	-4.229	-1.544	1.715	0.027	.	0.0028	0.00139776	0.0051	0.0012	0.0050	0	0.0073	0.0056	0.0112	0.0071	0.0047024	727	154602	rs115914450	0.0041	0.0041	0.0040	0.0042	0.0078	0.0040	0.0040	0.0073	0.0071	0.0007	0.0027	0.0030	7.557e-05	0.0072	0.0040	0.0040	0.0038	0.0078	0.0031	0.0031	0.0032	0.0030	0.0044	0.0028	0.0028	0.0039	0.0037	0.0008	0	0.0024	0.0043	0.0002	0.0063	0.0034	0.0043	0.0014	0.0044	0.0	0.91255	D	0.0	0.92824	D	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	1.63	0.00629	N	0.207	0.22998	-1.0490	0.14677	T	0.049	0.20868	T	7	0.00360775	0.00065	T	.	.	.	0.027	0.05988	.	.	0.0884992946249	0.08302	0.060819580912718274	0.06021	0.195389630327	0.21877	0.206911593676	0.00687	T	.	.	.	-0.671541	0.00054	T	-0.734091	0.04145	T	0.00930137150031257	0.00118	T	0.435556	0.11926	T	.	.	.	.	.	.	.	.	-5.393	0.40852	T	.	.	0.366	0.57573	A	.	.	-0.254570	0.02823	0.391	0.78456567122932019	0.12309	0.00329	0.01719	N	AEFBCI	0.032994	0.03832	N	-2.02558438502064	0.00186	0.007984023	-2.19083033208253	0.00117	0.005156783	0.999998989451334	0.74766	0.498214	0.20090	0	0.572659	0.20510	0	0.572659	0.19721	0	0.714379	0.83352	0	.	.	1.54	-3.09	0.05006	-2.417000	0.01112	-0.583000	0.08366	-2.444000	0.00282	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1797:0.1277:0.4403:0.2524	1.715	0.02724	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	0.07143	8543.66	33	chr2	240129931	.	G	A	8543.66	.	AC=3;AF=0.071;AN=42;BaseQRankSum=0.603;DP=1099;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=0.6410;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=23.34;ReadPosRankSum=-2.451e+00;SOR=0.715	GT:AD:DP:GQ:PL	1/1:0,213:213:99:6627,639,0	19	1	1	0
chr2	240757426	240757426	-	TCC	exonic	KIF1A	.	nonframeshift insertion	KIF1A:NM_001379632:exon26:c.2699_2700insGGA:p.E900_D901insE	Mental retardation, autosomal dominant 9, Autosomal dominant;Neuropathy, hereditary sensory, type IIC, Autosomal recessive;Spastic paraplegia 30, autosomal recessive, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs878988727	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5476	45978.09	90	chr2	240757423	.	ATCC	A,ATCCTCC	45978.09	.	AC=22,1;AF=0.524,0.024;AN=42;BaseQRankSum=-5.170e-01;DP=2530;ExcessHet=0.5442;FS=0.000;InbreedingCoeff=0.1350;MLEAC=22,1;MLEAF=0.524,0.024;MQ=60.00;MQRankSum=0.00;QD=29.32;ReadPosRankSum=0.110;SOR=0.712	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,112,0:116:99:.:.:4798,339,0,4832,357,4956	5	7	8	0
chr2	240934338	240934338	C	G	exonic	CROCC2	.	nonsynonymous SNV	CROCC2:NM_001351305:exon12:c.C1654G:p.R552G,	.	.	431	1088	2	1	0	4	0.00183486	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	T	.	.	.	.	.	.	.	.	.	.	0.96	T	-1.017	T	0.042	T	0.152	1.408	10.64	2.22	1.939	0.385	3.702	0.059	.	.	0.00738818	0.0015	0.0212	0.0035	0	0	0.0002	0	0	0.0005757	89	154602	rs141564189	0.0007	0.0007	0.0008	0.0006	0.0253	0.0007	0.0007	0.0238	0.0232	0.0253	0.0015	0	0	0	0.0022	3.615e-05	0.0017	7.583e-05	0.0067	0.0067	0.0072	0.0062	0.0228	0.0064	0.0062	0.0216	0.0211	0.0228	0	0.0032	0	0	0	0	0.0001	0.0066	0	.	.	.	0.02	0.58613	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.335	0.37613	-1.0172	0.24625	T	0.042	0.17869	T	5	0.004887879	0.00104	T	.	.	.	.	.	.	.	0.388970301349	0.38507	0.0706335361650638	0.07000	.	.	.	.	.	0.024569	0.18538	T	-0.539977	0.00335	T	-0.528819	0.19404	T	0.00978569450253716	0.00129	T	.	.	.	0.1669232	0.37058	0.19602239	0.43311	0.1669232	0.37057	0.19602239	0.43310	-7.873	0.60201	D	.	.	0.166	0.36633	B	.	.	3.545676	0.49816	22.8	0.99481528005632114	0.66904	0.04807	0.10528	N	AEFDBI	0.111228	0.22029	N	-0.210406427757895	0.32706	1.847436	-0.268263925983629	0.29151	1.630896	0.566753638158859	0.21459	0.517182	0.21443	0	0.59043	0.45803	0	0.478664	0.07449	1	0.562822	0.20929	0	.	.	4.29	2.22	0.27116	-0.101000	0.10943	3.056000	0.36140	0.549000	0.26987	0.000000	0.06391	0.139000	0.23074	0.561000	0.30436	0.174:0.5722:0.1499:0.1038	3.702	0.07916	970	0.06235	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	364.98	35	chr2	240934338	.	C	G	364.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.597;DP=747;ExcessHet=0.0000;FS=1.157;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=7.77;ReadPosRankSum=-1.314e+00;SOR=0.864	GT:AD:DP:GQ:PL	0/1:29,18:47:99:379,0,659	20	0	1	0
chr2	240935551	240935551	G	A	exonic	CROCC2	.	nonsynonymous SNV	CROCC2:NM_001351305:exon14:c.G2132A:p.G711E,	.	.	409	1110	3	0	0	3	0.00134953	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.55	T	.	.	.	.	.	.	.	.	1.1	L	2.63	T	-0.923	T	0.067	T	0.156	-0.335	2.415	-2.8	-0.501	-0.402	11.197	0.021	.	.	0.00758786	0.0070	0.0479	0	0	0	0	0	0	0.0006015	93	154602	rs187987650	0.0007	0.0007	0.0008	0.0007	0.0291	0.0007	0.0007	0.0273	0.0266	0.0291	0.0024	0	0	0	0.0025	3.054e-05	0.0022	8.034e-05	0.0079	0.0079	0.0083	0.0074	0.0271	0.0075	0.0074	0.0258	0.0252	0.0271	0	0.0033	0	0	0	0	0.0001	0.0076	0	.	.	.	0.948	0.02632	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.039	0.01274	-0.9231	0.45126	T	0.067	0.27434	T	6	0.0032262504	0.00055	T	.	.	.	.	.	.	.	0.104622674875	0.10061	0.06367682268523439	0.06306	.	.	.	.	.	0.011	0.09944	T	-0.576538	0.00202	T	-0.579303	0.14607	T	0.00425357990189368	0.00045	T	.	.	.	0.07220167	0.16044	0.12166434	0.29353	0.07220167	0.16043	0.12166434	0.29353	-5.473	0.41615	T	.	.	0.103	0.18580	B	.	.	0.060242	0.04712	1.349	0.62452192584207422	0.06966	0.01418	0.04786	N	AEFDBI	0.041142	0.06216	N	-1.07567293225804	0.07093	0.3285216	-1.23648199386384	0.05335	0.2539085	0.640797087268103	0.22052	0.497415	0.19182	0	0.59043	0.45803	0	0.578056	0.29568	0	0.542086	0.14980	0	.	.	4.07	-2.8	0.05477	-0.284000	0.08456	-0.894000	0.07016	-0.167000	0.11441	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.4435:0.0:0.5565:0.0	11.197	0.47949	970	0.06235	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	900.98	36	chr2	240935551	.	G	A	900.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.014;DP=769;ExcessHet=0.0000;FS=1.306;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=20.48;ReadPosRankSum=0.303;SOR=0.446	GT:AD:DP:GQ:PL	0/1:12,32:44:99:915,0,300	20	0	1	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	0/2:17,7,25:53:99:540,345,865,0,217,259	0	0	1	0
chr2	241735300	241735300	C	T	exonic	D2HGDH	.	nonsynonymous SNV	D2HGDH:NM_152783:exon2:c.C76T:p.R26W,	D-2-hydroxyglutaric aciduria, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	719782	D-2-hydroxyglutaric_aciduria_1|D2HGDH-related_disorder|Inborn_genetic_diseases	MONDO:MONDO:0024554,MedGen:C3152055,OMIM:600721,Orphanet:79315|.|MeSH:D030342,MedGen:C0950123	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.07	T	0.016	B	0.003	B	0.020	N	1.000	N	0.345	N	-2.09	D	-0.666	T	0.342	T	0.199	1.454	10.81	-0.957	-0.127	1.607	1.722	0.248	0.174949077921	.	0.000199681	9.864e-05	0.0022	0	0	0	0	0	0	0.0001035	16	154602	rs146696295	0.0001	0.0001	0.0001	0.0001	0.0031	9.84e-05	9.272e-05	0.0026	0.0024	0.0031	0.0001	0	0	0	0	6.504e-06	0.0003	0.0004	0.0009	0.0009	0.0010	0.0008	0.0030	0.0007	0.0007	0.0025	0.0024	0.0030	0	0.0001	0	0	0	0	1.47e-05	0.0009	0.0006	0.014	0.53172	D	0.019	0.59159	D	0.016	0.17332	B	0.003	0.08700	B	0.019647	0.01515	N	2.734200	1	0.08975	N	1.24	0.30952	L	-2.09	0.86077	D	-1.59	0.38345	N	0.224	0.25130	-0.6656	0.62027	T	0.342	0.70778	T	10	0.0068514645	0.00156	T	0.174949	0.85118	D	0.248	0.55615	.	.	0.491660673884	0.48798	0.5958561222149563	0.59515	0.384099605247	0.39718	0.514772117138	0.40891	T	0.033211	0.22818	T	-0.419521	0.01722	T	-0.376545	0.36126	T	0.0213660206028269	0.00839	T	0.688631	0.29780	T	0.054411598	0.10434	0.041157067	0.04614	0.04731023	0.08065	0.038480762	0.03725	-6.073	0.46886	T	.	.	0.119	0.24532	B	.	.	1.146140	0.15336	11.77	0.96082170509860221	0.28656	0.05496	0.11382	N	AEFBHCIJ	0.038621	0.05492	N	-1.46022811257665	0.02138	0.09406557	-1.54025073431667	0.02043	0.09342206	0.999999877141602	0.74766	0.652421	0.48094	0	0.52208	0.09955	0	0.64067	0.45733	0	0.249971	0.05119	0	.	.	1.4	-0.957	0.09822	-1.143000	0.03311	-0.784000	0.07442	-1.943000	0.00489	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.3307:0.4209:0.0:0.2484	1.722	0.02737	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	1155.98	33	chr2	241735300	.	C	T	1155.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.510e-01;DP=817;ExcessHet=0.0000;FS=4.900;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.10;ReadPosRankSum=-1.916e+00;SOR=0.307	GT:AD:DP:GQ:PL	0/1:38,44:82:99:1170,0,1123	20	0	1	0
chr3	12935487	12935487	C	T	exonic	IQSEC1	.	nonsynonymous SNV	IQSEC1:NM_001134382:exon3:c.G1529A:p.R510H	.	.	429	1087	6	0	0	6	0.00275229	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	1.0	D	0.994	D	0.000	D	1.000	D	.	.	0.89	T	-0.644	T	0.233	T	0.87	4.110	21.2	4.3	2.222	5.923	10.584	0.365	.	7.7e-05	0.00299521	0.0014	0	0.0003	0	0	0.0003	0.0022	0.0091	0.0012936	200	154602	rs141003089	0.0007	0.0007	0.0004	0.0009	0.0087	0.0007	0.0006	0.0081	0.0079	2.988e-05	0.0002	0	5.039e-05	7.505e-05	0.0010	0.0002	0.0010	0.0087	0.0003	0.0003	0.0002	0.0004	0.0073	0.0002	0.0002	0.0054	0.0047	2.405e-05	0	0.0001	0	0	0	0	0.0001	0	0.0073	0.035	0.43708	D	0.002	0.79402	D	1.0	0.90584	D	0.994	0.82059	D	0.000000	0.84330	D	0.000000	1	0.81001	D	.	.	.	0.89	0.45636	T	-3.12	0.63782	D	0.902	0.90251	-0.6443	0.62961	T	0.233	0.59879	T	9	0.010847181	0.00240	T	.	.	.	0.365	0.68495	.	.	0.740894788674	0.73857	0.8881715296917412	0.88786	1.59259118231	0.88554	0.830730497837	0.86674	D	0.593187	0.86852	D	-0.13329	0.30963	T	0.0414517	0.73022	D	0.110525855943162	0.13477	T	0.985721	0.95129	D	0.57837766	0.71520	0.25967687	0.51720	0.57837766	0.71521	0.25967687	0.51719	-9.319	0.69726	D	.	.	0.273	0.65937	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	5.475604	0.91325	32	0.99957358722942813	0.99981	0.84490	0.43572	D	AEFDGBHCI	0.712283	0.66545	D	0.623747164827252	0.74680	6.17388	0.590625480438672	0.74264	6.107923	1.0	0.98316	0.67177	0.52595	0	0.702456	0.74545	0	0.570548	0.19454	0	0.635551	0.53088	0	.	.	4.3	4.3	0.50540	5.037000	0.63964	5.895000	0.50812	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.9113:0.0:0.0887	10.584	0.44459	895	0.25842	Sec7 domain|Sec7 domain|Sec7 domain|Sec7 domain;Sec7 domain|Sec7 domain|Sec7 domain|Sec7 domain;Sec7 domain|Sec7 domain|Sec7 domain|Sec7 domain;.;Sec7 domain|Sec7 domain|Sec7 domain|Sec7 domain;.;Sec7 domain|Sec7 domain|Sec7 domain|Sec7 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	1297.98	36	chr3	12935487	.	C	T	1297.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.070e-01;DP=786;ExcessHet=0.0000;FS=2.065;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=17.31;ReadPosRankSum=-9.680e-01;SOR=0.429	GT:AD:DP:GQ:PL	0/1:30,45:75:99:1312,0,768	20	0	1	0
chr3	38701841	38701841	G	A	exonic	SCN10A	.	nonsynonymous SNV	SCN10A:NM_001293307:exon25:c.C4361T:p.A1454V	Episodic pain syndrome, familial, 2, Autosomal dominant	.	347	1173	2	0	0	2	0.000851789	0.0006	0.096	239219	Brugada_syndrome|Cardiovascular_phenotype|Episodic_pain_syndrome,_familial,_2|not_provided	MONDO:MONDO:0015263,MedGen:C1142166,OMIM:PS601144,Orphanet:130|MedGen:CN230736|MONDO:MONDO:0014246,MedGen:C3809893,OMIM:615551,Orphanet:306577|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	1	T	0.018	B	0.017	B	0.353	N	1.000	N	-0.7	N	-4.78	D	0.253	D	0.715	D	0.122	-1.942	0.007	-1.97	-0.042	0.725	9.860	0.317	0.0653395295858	.	.	4.325e-05	0	8.676e-05	0	0	3.06e-05	0	0.0002	3.23e-05	5	154602	rs756133876	4.353e-05	4.309e-05	4.937e-05	3.761e-05	0.0005	3.477e-05	3.16e-05	0.0001	7.615e-05	3.021e-05	2.301e-05	0	5.119e-05	0	0.0005	3.896e-05	0.0002	4.783e-05	5.253e-05	5.25e-05	7.709e-05	2.685e-05	0.0001	2.555e-05	1.829e-05	2.258e-05	9.06e-06	4.81e-05	0	0.0001	0	0	0	0.0034	2.94e-05	0.0005	0	1.0	0.00964	T	1.0	0.01155	T	0.018	0.17786	B	0.017	0.18140	B	0.352825	0.04256	N	1.421980	1	0.08975	N	-1.035	0.01121	N	-4.78	0.98140	D	2.05	0.00383	N	0.226	0.25377	0.253	0.86800	D	0.715	0.90199	D	10	0.100078315	0.18202	T	0.06534	0.69550	D	0.317	0.63904	.	.	0.494634796122	0.49099	0.3393814706820322	0.33851	0.059770093673	0.06645	0.298433721066	0.10168	T	0.353859	0.72109	T	-0.116058	0.33770	T	-0.294427	0.45311	T	0.0197732285493768	0.00679	T	0.861414	0.55526	D	0.033112288	0.03467	0.05119859	0.08189	0.033112288	0.03467	0.05119859	0.08189	-1.448	0.01661	T	.	.	0.090	0.15296	B	.;.;.;.	.;.;.;.	2.990252	0.39923	21.1	0.17404773227477557	0.00506	0.01994	0.06016	N	AEFBI	0.063666	0.12317	N	-1.5223386615749	0.01703	0.07454712	-1.48380174020813	0.02477	0.1139795	0.00401831157916729	0.10381	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	4.81	-1.97	0.07091	0.912000	0.28220	-1.369000	0.05603	-0.153000	0.12021	0.000000	0.06391	0.000000	0.08366	0.258000	0.23468	0.2784:0.24:0.4817:0.0	9.860	0.40278	807	0.43470	Ion transport domain;Ion transport domain;Ion transport domain;Ion transport domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.04762	4336.11	34	chr3	38701841	.	G	A	4336.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.80;DP=998;ExcessHet=0.1072;FS=4.388;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=13.47;ReadPosRankSum=0.931;SOR=0.926	GT:AD:DP:GQ:PL	0/1:80,82:162:99:2075,0,1788	19	0	2	0
chr3	39184021	39184021	G	A	exonic	XIRP1	.	nonsynonymous SNV	XIRP1:NM_001351377:exon2:c.C1474T:p.P492S	.	.	421	1100	1	0	0	1	0.000454339	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.994	D	0.852	P	0.039	N	1.000	N	2.085	M	2.83	T	-0.840	T	0.238	T	0.792	1.658	11.50	3.37	1.118	2.682	7.271	0.281	0.0219274077588	.	0.000798722	0.0002	0	0.0002	0	0	0	0	0.0017	0.0002264	35	154602	rs555974071	9.721e-05	9.782e-05	5.721e-05	0.0001	0.0015	8.383e-05	7.921e-05	0.0013	0.0012	2.989e-05	2.238e-05	0	2.519e-05	0	0.0002	3.598e-06	4.974e-05	0.0015	6.563e-05	6.561e-05	2.569e-05	0.0001	0.0021	3.513e-05	2.613e-05	0.0011	0.0009	0	0	0	0	0	0	0	0	0	0.0021	0.0	0.91255	D	0.0	0.92824	D	0.994	0.66517	D	0.852	0.60758	P	0.038971	0.24223	N	0.402682	0.999736	0.48635	D	1.04	0.26193	L	2.83	0.53943	T	-3.1	0.93135	D	0.244	0.28381	-0.8396	0.52673	T	0.238	0.60523	T	10	0.011989474	0.00260	T	0.021927	0.44763	T	0.281	0.59861	0.417	0.45709	0.353336612579	0.34937	0.2484465102587459	0.24758	0.0742201116511	0.08323	0.315386533737	0.12721	T	0.51669	0.83019	D	-0.200904	0.20675	T	-0.0745907	0.65297	T	0.20402052214164	0.20636	T	0.589041	0.21605	T	0.12311175	0.28914	0.1927181	0.42801	0.15465237	0.34991	0.19955608	0.43842	-3.744	0.19970	T	.	.	0.105	0.39982	B	.;.	.;.	2.651222	0.34516	19.65	0.99758653343500525	0.84851	0.83288	0.42417	D	AEFDBHCI	0.372542	0.45815	N	0.162813634737149	0.49422	3.142656	-0.00526248135346427	0.39477	2.34128	0.999999952627651	0.74766	0.65861	0.49226	0	0.688826	0.66785	0	0.478664	0.07449	1	0.613276	0.41899	0	.	.	4.28	3.37	0.37692	2.640000	0.46245	4.105000	0.41886	0.676000	0.76740	0.999000	0.42656	1.000000	0.68203	0.139000	0.19909	0.0:0.1884:0.6171:0.1945	7.271	0.25432	449	0.79428	.;.	.	.	.	.	.	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	705.98	36	chr3	39184021	.	G	A	705.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.40;DP=807;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.23;ReadPosRankSum=-1.175e+00;SOR=0.674	GT:AD:DP:GQ:PL	0/1:42,27:69:99:720,0,1212	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	1/3:0,32,0,41,0,0,0:73:99:3362,1646,1469,3162,1622,3083,1301,0,1283,1113,3162,1622,3083,1283,3083,3162,1622,3083,1283,3083,3083,3162,1622,3083,1283,3083,3083,3083	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	1/3:0,32,0,41,0,0,0:73:99:3362,1646,1469,3162,1622,3083,1301,0,1283,1113,3162,1622,3083,1283,3083,3162,1622,3083,1283,3083,3083,3162,1622,3083,1283,3083,3083,3083	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	1/3:0,32,0,41,0,0,0:73:99:3362,1646,1469,3162,1622,3083,1301,0,1283,1113,3162,1622,3083,1283,3083,3162,1622,3083,1283,3083,3083,3162,1622,3083,1283,3083,3083,3083	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	1/3:0,32,0,41,0,0,0:73:99:3362,1646,1469,3162,1622,3083,1301,0,1283,1113,3162,1622,3083,1283,3083,3162,1622,3083,1283,3083,3083,3162,1622,3083,1283,3083,3083,3083	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	1/3:0,32,0,41,0,0,0:73:99:3362,1646,1469,3162,1622,3083,1301,0,1283,1113,3162,1622,3083,1283,3083,3162,1622,3083,1283,3083,3083,3162,1622,3083,1283,3083,3083,3083	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	0/2:39,0,35,0,4:78:99:1391,1462,3055,0,1628,1528,1462,3055,1628,3055,1242,2835,1450,2835,2787	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	0/2:39,0,35,0,4:78:99:1391,1462,3055,0,1628,1528,1462,3055,1628,3055,1242,2835,1450,2835,2787	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	0/2:39,0,35,0,4:78:99:1391,1462,3055,0,1628,1528,1462,3055,1628,3055,1242,2835,1450,2835,2787	1	3	1	0
chr3	44244764	44244764	C	T	exonic	TOPAZ1	.	nonsynonymous SNV	TOPAZ1:NM_001145030:exon2:c.C2258T:p.P753L,	.	.	435	1085	2	0	0	2	0.00092081	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	T	0.021	B	0.013	B	.	.	1.000	N	0.695	N	2.96	T	-1.040	T	0.020	T	0.146	0.299	5.618	4.91	2.788	2.042	10.139	0.037	0.00687320239353	0.0002	.	0.0011	0	0	0	0	0.0026	0.0042	0	0.0001552	24	154602	rs201546531	0.0003	0.0003	0.0003	0.0003	0.0018	0.0003	0.0003	0.0010	0.0007	9.495e-05	2.801e-05	0.0104	0	0	0.0018	8.527e-05	0.0008	3.787e-05	0.0004	0.0004	0.0004	0.0004	0.0002	0.0003	0.0003	0.0001	7.897e-05	7.223e-05	0	0.0001	0.0130	0	0	0	0.0002	0.0005	0	0.387	0.10945	T	1.0	0.01155	T	0.021	0.18474	B	0.013	0.16460	B	.	.	.	.	0.999999	0.08975	N	1.795	0.47270	L	2.96	0.09542	T	-2.14	0.48523	N	0.209	0.23253	-1.0395	0.17465	T	0.020	0.08593	T	9	0.0041255057	0.00081	T	0.006873	0.18177	T	0.037	0.09474	.	.	0.29527378943	0.29149	0.3331639312480554	0.33229	.	.	0.280142426491	0.07511	T	0.032666	0.22587	T	-0.471672	0.00830	T	-0.641001	0.09596	T	0.016277901547158	0.00399	T	0.693531	0.30321	T	0.06319507	0.13281	0.090680405	0.21279	0.06319507	0.13281	0.090680405	0.21278	-4.412	0.29719	T	.	.	0.110	0.21239	B	.	.	3.128456	0.42264	21.5	0.97380553580819207	0.33671	0.29067	0.23723	N	AEFDBI	0.056885	0.10553	N	-0.40040127060251	0.25455	1.381935	-0.280357632934784	0.28744	1.605136	0.98037806150561	0.30129	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	5.89	4.91	0.63897	2.091000	0.41316	4.785000	0.44861	0.549000	0.26987	0.523000	0.27135	0.875000	0.27637	0.749000	0.35751	0.0:0.8796:0.0:0.1204	10.139	0.41902	345	0.85689	.	.	.	.	.	.	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	1474.98	41	chr3	44244764	.	C	T	1474.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.855e+00;DP=1086;ExcessHet=0.0000;FS=1.346;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.39;ReadPosRankSum=0.414;SOR=0.735	GT:AD:DP:GQ:PL	0/1:83,59:142:99:1489,0,2520	20	0	1	0
chr3	46675685	46675685	C	T	exonic	ALS2CL	.	nonsynonymous SNV	ALS2CL:NM_001190707:exon20:c.G2188A:p.G730S	.	.	418	1086	18	0	0	18	0.00821918	0.0096	0.088	.	.	.	.	.	.	.	.	.	.	.	.	.	0.69	T	0.991	D	0.784	P	0.003	N	0.998	D	1.87	L	1.54	T	-1.081	T	0.080	T	0.567	1.886	12.27	4.66	2.592	1.715	13.236	0.214	.	0.0075	0.00339457	0.0080	0.0013	0.0042	0	0.0126	0.0117	0.0122	0.0021	0.0078395	1212	154602	rs142971127	0.0092	0.0092	0.0094	0.0089	0.0105	0.0090	0.0090	0.0103	0.0103	0.0016	0.0042	0.0093	5.038e-05	0.0109	0.0055	0.0105	0.0077	0.0018	0.0070	0.0070	0.0073	0.0066	0.0110	0.0066	0.0065	0.0103	0.0101	0.0015	0.0088	0.0049	0.0086	0	0.0113	0.0136	0.0110	0.0043	0.0012	0.426	0.09658	T	0.025	0.56192	D	0.991	0.64070	D	0.784	0.57456	P	0.002863	0.35804	N	0.195229	0.996841	0.44993	D	2.24	0.63355	M	1.54	0.30133	T	-1.31	0.32791	N	0.362	0.40364	-1.0815	0.07060	T	0.080	0.31795	T	10	0.010800779	0.00239	T	.	.	.	0.214	0.50650	.	.	0.27132560031	0.26736	0.312853060060191	0.31198	0.234909903275	0.26024	0.399276971817	0.24967	T	0.031071	0.21874	T	-0.418219	0.01756	T	-0.364124	0.37575	T	0.0231025178742826	0.01036	T	0.657134	0.26688	T	0.056975026	0.11278	0.079300344	0.17840	0.056975026	0.11278	0.079300344	0.17840	-5.485	0.41728	T	.	.	0.088	0.11797	B	.;.	.;.	2.528597	0.32689	19.12	0.99072628453348799	0.51762	0.84379	0.43461	D	AEFDBI	0.536512	0.55470	D	0.235030063576579	0.52902	3.461751	0.192374759118953	0.49428	3.146122	0.999999977351035	0.74766	0.646311	0.45356	0	0.59043	0.45803	0	0.658983	0.55881	0	0.699875	0.68795	0	.	.	4.66	4.66	0.57857	1.766000	0.38121	2.180000	0.31122	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.269000	0.23743	0.0:1.0:0.0:0.0	13.236	0.59397	317	0.87119	.;.	.	.	.	.	rs142971127	Uncertain significance	0	0	0	0	0	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	976.98	41	chr3	46675685	.	C	T	976.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.400e-02;DP=807;ExcessHet=0.0000;FS=0.890;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.38;ReadPosRankSum=1.66;SOR=0.542	GT:AD:DP:GQ:PL	0/1:36,37:73:99:991,0,1026	20	0	1	0
chr3	46709586	46709586	-	AAG	exonic	TMIE	.	nonframeshift insertion	TMIE:NM_001370524:exon4:c.210_211insAAG:p.K78_D79insK	Deafness, autosomal recessive 6, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.619	36052.73	62	chr3	46709583	.	TAAG	T,TAAGAAG	36052.73	.	AC=25,1;AF=0.595,0.024;AN=42;BaseQRankSum=-3.730e-01;DP=1535;ExcessHet=4.5793;FS=0.569;InbreedingCoeff=-0.2115;MLEAC=25,1;MLEAF=0.595,0.024;MQ=60.00;MQRankSum=0.00;QD=28.75;ReadPosRankSum=0.200;SOR=0.670	GT:AD:DP:GQ:PL	0/1:30,23,0:53:99:827,0,1169,917,1238,2156	2	7	11	0
chr3	49163274	49163274	-	TGGCCC	exonic	CCDC71	.	nonframeshift insertion	CCDC71:NM_022903:exon2:c.934_935insGGGCCA:p.A311_K312insRA,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1387286602	2.087e-06	2.077e-06	1.385e-06	2.795e-06	2.745e-06	5.6e-07	1.5e-07	7.3e-07	2e-07	0	0	0	0	0	0	2.745e-06	0	0	6.572e-06	6.57e-06	0	1.345e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2621.94	38	chr3	49163274	.	T	TTGGCCC	2621.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.780e-01;DP=1021;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.49;ReadPosRankSum=-1.280e+00;SOR=0.675	GT:AD:DP:GQ:PL	0/1:109,72:181:99:2636,0,4282	20	0	1	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	1/2:0,44,47:91:99:3799,1974,1862,1826,0,1683	0	4	6	0
chr3	51958198	51958198	C	T	exonic	PCBP4	.	nonsynonymous SNV	PCBP4:NM_020418:exon13:c.G946A:p.G316S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	D	0.999	D	0.144	N	1.000	D	0.255	N	1.37	T	-0.963	T	0.122	T	0.804	5.088	31	5.13	2.403	6.048	17.391	0.194	0.0318864786923	7.7e-05	.	8.293e-06	0	0	0	0	1.506e-05	0	0	6.5e-06	1	154602	rs146951120	6.846e-07	1.368e-06	1.362e-06	0	1.16e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.16e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.142	0.25457	T	0.117	0.36365	T	1.0	0.90584	D	0.998	0.88582	D	0.144283	0.18183	N	0.533478	1	0.81001	D	1.995	0.54099	M	1.2	0.37405	T	-1.33	0.38345	N	0.564	0.63289	-0.9627	0.38664	T	0.122	0.42399	T	9	0.4627394	0.59384	T	0.031886	0.53858	D	0.194	0.47447	.	.	0.491112125781	0.48745	0.5299313296349659	0.52917	1.28013305572	0.82499	0.810192286968	0.83522	D	0.029878	0.21310	T	0.100401	0.64336	D	-0.0935576	0.63892	T	0.830192565917969	0.48545	D	0.925008	0.72455	D	0.10606424	0.25080	0.12615275	0.30385	0.10606424	0.25080	0.12615275	0.30384	-3.192	0.14035	T	.	.	0.183	0.39630	B	.;.;.;.;.	.;.;.;.;.	5.107830	0.85376	28.6	0.99853341213444613	0.93279	0.98412	0.82510	D	AEFBI	.	.	.	0.367314317873173	0.59661	4.147249	0.451751670155274	0.64830	4.747378	0.999999999999995	0.74766	0.706548	0.73137	0	0.723109	0.82256	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	5.13	5.13	0.69729	6.170000	0.71810	7.638000	0.63056	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:1.0:0.0:0.0	17.391	0.87323	263	0.89692	.;.;.;.;.	.	.	.	.	.	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	1204.98	36	chr3	51958198	.	C	T	1204.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.31;DP=817;ExcessHet=0.0000;FS=3.993;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.54;ReadPosRankSum=1.79;SOR=0.711	GT:AD:DP:GQ:PL	0/1:43,46:89:99:1219,0,1052	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	0/1:8,13,0:21:99:516,0,297,540,336,876	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	0/1:58,49,0:107:99:1069,0,2003,1244,2150,3394	13	1	6	0
chr3	62481756	62481756	G	A	exonic	CADPS	.	nonsynonymous SNV	CADPS:NM_003716:exon22:c.C3140T:p.A1047V,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.51	T	0.295	B	0.068	B	0.000	D	1.000	D	0.755	N	1.53	T	-0.875	T	0.204	T	0.463	2.889	15.63	5.28	2.641	9.420	19.279	0.163	0.0144582519176	.	.	8.282e-06	0	0	0	0	1.499e-05	0	0	6.5e-06	1	154602	rs774966536	6.865e-06	8.209e-06	6.827e-06	6.902e-06	8.105e-06	3.47e-06	2.53e-06	3.81e-06	2.76e-06	0	0	0	0	0	0	8.105e-06	1.661e-05	0	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	0.231	0.18246	T	0.321	0.19073	T	0.295	0.32424	B	0.068	0.27651	B	0.000026	0.55875	D	0.121462	0.999992	0.81001	D	0.695	0.17993	N	1.53	0.30401	T	-0.37	0.13226	N	0.589	0.60918	-0.8750	0.50150	T	0.204	0.56114	T	10	0.358016	0.52504	T	0.014458	0.34591	T	0.163	0.42028	0.285	0.24280	0.493021045079	0.48934	0.2912655038093022	0.29039	0.943520176759	0.72310	0.766231536865	0.76860	T	0.14286	0.47867	T	-0.0916574	0.37802	T	-0.369436	0.36955	T	0.843794703483582	0.49640	D	0.888211	0.61727	D	0.16113415	0.36102	0.17036565	0.39141	0.16113415	0.36101	0.17036565	0.39140	-6.032	0.46546	T	.	.	0.189	0.40683	B	.	.	4.972734	0.82304	27.8	0.99338508198230757	0.60091	0.98888	0.88198	D	AEFI	0.955590	0.97354	D	0.415872961517509	0.62293	4.443024	0.534304323573482	0.70314	5.486898	0.999999964253427	0.74766	0.559995	0.30671	0	0.59043	0.45803	0	0.527494	0.11647	0	0.564101	0.26826	0	.	.	5.28	5.28	0.74118	9.516000	0.97042	11.893000	0.99147	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:1.0:0.0	19.279	0.94029	713	0.56348	Munc13 homology 1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	3194.98	34	chr3	62481756	.	G	A	3194.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.768e+00;DP=920;ExcessHet=0.0000;FS=5.655;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.26;ReadPosRankSum=0.862;SOR=1.052	GT:AD:DP:GQ:PL	0/1:100,124:224:99:3209,0,2706	20	0	1	0
chr3	65356758	65356758	A	C	exonic	MAGI1	.	nonsynonymous SNV	MAGI1:NM_001033057:exon23:c.T4009G:p.L1337V,	.	.	9	1512	1	0	0	1	0.000330579	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.27	T	0.996	D	0.986	D	0.000	D	1.000	D	0.975	L	2.66	T	-1.231	T	0.051	T	0.352	0.736	7.906	-1.69	-0.569	0.146	13.404	0.121	0.00969858912569	0.0033	0.000798722	0.0029	0.0006	0.0010	0	0.0035	0.0041	0.0012	0.0018	0.0027619	427	154602	rs140619230	0.0036	0.0036	0.0036	0.0035	0.0042	0.0035	0.0035	0.0041	0.0041	0.0005	0.0015	3.999e-05	2.527e-05	0.0028	0.0002	0.0042	0.0030	0.0013	0.0027	0.0027	0.0029	0.0025	0.0042	0.0024	0.0024	0.0038	0.0037	0.0009	0	0.0030	0	0	0.0016	0	0.0042	0.0033	0.0019	0.0	0.91255	D	0.14	0.33554	T	0.996	0.68779	D	0.986	0.76916	D	0.000006	0.62929	D	0.000000	1	0.81001	D	.	.	.	2.66	0.12575	T	-0.8	0.22078	N	0.294	0.50237	-1.2307	0.00029	T	0.051	0.21689	T	10	0.0046604276	0.00098	T	0.009699	0.25336	T	0.121	0.33580	.	.	0.161926535498	0.15789	0.19538221134334982	0.19455	1.03353059841	0.75497	0.618499517441	0.55517	T	.	.	.	-0.482072	0.00719	T	-0.463597	0.26209	T	0.053450440512346	0.06096	T	.	.	.	.	.	.	.	.	.	.	.	-4.342	0.28761	T	.	.	0.338	0.55788	B	.;.	.;.	1.562949	0.20018	14.55	0.90726042310720245	0.19976	0.21660	0.21480	N	AEFDBHCIJ	0.188915	0.31618	N	-0.559806530667599	0.20176	1.061763	-0.734950420967932	0.16092	0.8496707	0.999995105526919	0.74766	0.651	0.46895	0	0.588015	0.36545	0	0.52208	0.10781	0	0.683762	0.67416	0	.	.	5.31	-1.69	0.07747	0.057000	0.14157	1.161000	0.24553	-0.208000	0.08445	0.054000	0.21560	0.159000	0.23246	0.934000	0.47231	0.4272:0.0:0.5728:0.0	13.404	0.60347	795	0.45444	.;.	.	.	.	.	.	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	2560.98	33	chr3	65356758	.	A	C	2560.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.875;DP=903;ExcessHet=0.0000;FS=3.981;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.55;ReadPosRankSum=-3.775e+00;SOR=0.477	GT:AD:DP:GQ:PL	0/1:110,94:204:99:2575,0,2955	20	0	1	0
chr3	69181256	69181256	G	C	exonic	FRMD4B	.	nonsynonymous SNV	FRMD4B:NM_015123:exon21:c.C2494G:p.Q832E,	.	.	429	1082	11	0	0	11	0.00505747	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.737	P	0.237	B	0.000	D	0.999	D	1.61	L	-1.71	D	-0.019	T	0.475	T	0.321	4.024	20.6	5.83	2.757	9.476	20.114	0.434	0.0529136556972	0.0023	0.000998403	0.0025	0.0010	0.0023	0	0.0005	0.0036	0.0022	0.0010	0.0023997	371	154602	rs199706552	0.0028	0.0028	0.0028	0.0028	0.0160	0.0027	0.0027	0.0133	0.0123	0.0010	0.0027	0.0156	0	0.0004	0.0160	0.0028	0.0034	0.0011	0.0022	0.0022	0.0023	0.0020	0.0033	0.0020	0.0019	0.0026	0.0023	0.0006	0	0.0033	0.0184	0	0.0006	0.0068	0.0025	0.0057	0.0010	0.01	0.56456	D	0.186	0.37872	T	0.737	0.42882	P	0.237	0.38508	B	0.000006	0.62929	D	0.109676	0.999491	0.47278	D	2.14	0.59869	M	-1.72	0.83241	D	-0.34	0.12661	N	0.524	0.55366	-0.0192	0.81855	T	0.475	0.79847	T	10	0.009417921	0.00213	T	0.052914	0.65261	D	0.434	0.73951	.	.	0.56437525427	0.56100	0.7345578573900866	0.73400	0.0547097148445	0.06054	0.462807297707	0.33696	T	0.007676	0.16191	T	-0.239893	0.15363	T	-0.117374	0.62017	T	0.0406746991656434	0.03812	T	0.959004	0.92475	D	0.12357676	0.29014	0.239332	0.49278	0.12357676	0.29014	0.239332	0.49277	-2.821	0.08378	T	.	.	0.209	0.43585	B	.;.	.;.	3.343665	0.46082	22.2	0.99272507748993633	0.57593	0.97791	0.77159	D	AEFGBCI	0.919008	0.88890	D	0.487089455058406	0.66336	4.936884	0.614264542042888	0.75976	6.406598	1.0	0.98316	0.730579	0.87903	0	0.546412	0.12157	0	0.658983	0.55881	0	0.648885	0.59868	0	.	.	5.83	5.83	0.93059	9.602000	0.97623	9.945000	0.82685	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:0.0:1.0:0.0	20.114	0.97919	547	0.72440	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	1915.98	60	chr3	69181256	.	G	C	1915.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.462;DP=1602;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.01;ReadPosRankSum=2.59;SOR=0.668	GT:AD:DP:GQ:PL	0/1:100,74:174:99:1930,0,2734	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|1:52,43:95:99:0|1:75730450_C_T:1649,0,2047:75730450	0	0	20	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|1:86,28:114:99:0|1:75736884_G_GA:896,0,3500:75736884	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|1:87,30:117:99:0|1:75736884_G_GA:977,0,3536:75736884	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|1:92,28:120:99:0|1:75736884_G_GA:899,0,3779:75736884	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|1:94,29:123:99:0|1:75736884_G_GA:935,0,3853:75736884	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	0/1:82,24:106:99:492,0,2348	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	0/1:79,39:118:99:927,0,2226	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	0/1:91,59:150:99:1218,0,2638	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|1:92,62:154:99:0|1:75737092_C_T:2326,0,3676:75737092	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|1:93,62:155:99:0|1:75737092_C_T:2323,0,3718:75737092	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|1:93,65:158:99:0|1:75737092_C_T:2449,0,3709:75737092	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|1:97,65:162:99:0|1:75737092_C_T:2437,0,3877:75737092	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|1:95,39:134:99:0|1:75737092_C_T:1352,0,3851:75737092	0	0	21	0
chr3	75737228	75737228	T	C	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.A2395G:p.T799A	.	.	388	1009	125	0	0	125	0.0583294	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.14	T	0.041	B	0.015	B	.	.	1.000	N	0.2	N	2.5	T	-0.978	T	0.017	T	0.263	-0.128	3.371	0.509	0.160	-3.097	4.801	0.015	0.00065624303644	.	.	.	.	.	.	.	.	.	.	0.161595	4206	26028	rs80170761	1.428e-06	1.368e-06	1.409e-06	1.447e-06	1.852e-06	2.4e-07	9e-08	3.1e-07	1.2e-07	0	0	0	0	0	0	1.852e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.475	0.08359	T	0.182	0.29249	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	2.5	0.14408	T	-0.37	0.13226	N	0.031	0.00770	-0.9782	0.35413	T	0.017	0.07092	T	9	0.04005146	0.02542	T	6.56E-4	0.00350	T	0.015	0.02232	.	.	0.0138822411134	0.00435	0.0025070030530107983	0.00232	.	.	0.570732712746	0.48781	T	.	.	.	-0.29288	0.09349	T	-0.658479	0.08369	T	0.0214846075820914	0.00852	T	0.448455	0.12604	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.100	0.17189	B	.	.	0.201526	0.05865	2.303	0.46300880358559965	0.03698	0.00280	0.01512	N	AEFDBHCI	0.025509	0.01757	N	-1.44896954151032	0.02225	0.09801469	-1.50829558445683	0.02280	0.1046078	0.999662543695307	0.41534	0.69289	0.55638	0	0.78372	0.99691	0	0.517114	0.09559	2	0.264475	0.05362	3	.	.	1.79	0.509	0.16177	-3.477000	0.00510	.	.	-0.233000	0.07663	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.4406:0.0:0.0:0.5593	4.801	0.12662	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2619	2374.81	109	chr3	75737228	.	T	C	2374.81	.	AC=11;AF=0.262;AN=42;BaseQRankSum=1.77;DP=2347;ExcessHet=7.7275;FS=19.670;InbreedingCoeff=-0.3588;MLEAC=11;MLEAF=0.262;MQ=57.63;MQRankSum=-9.053e+00;QD=1.98;ReadPosRankSum=-1.729e+00;SOR=2.782	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:93,14:107:99:0|1:75737228_T_C:206,0,3857:75737228	10	0	11	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|1:69,74:143:99:0|1:75737519_G_A:2801,0,2560:75737519	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|1:79,84:163:99:0|1:75737586_A_T:3287,0,3024:75737586	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|1:85,86:171:99:0|1:75737586_A_T:3355,0,3310:75737586	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|1:84,97:181:99:0|1:75737586_A_T:3820,0,3235:75737586	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|1:84,106:190:99:0|1:75737586_A_T:4198,0,3208:75737586	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|1:76,90:166:99:0|1:75737586_A_T:3550,0,2920:75737586	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|1:106,85:191:99:1|0:75737791_C_A:3209,0,4077:75737791	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|1:106,42:148:99:0|1:75737881_T_C:1232,0,4247:75737881	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|1:110,30:140:99:0|1:75737881_T_C:907,0,4522:75737881	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|1:108,28:136:99:0|1:75737881_T_C:851,0,4451:75737881	0	0	21	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	0/1:57,23:80:99:381,0,1795	0	0	21	0
chr3	93896595	93896595	G	A	exonic	PROS1	.	nonsynonymous SNV	PROS1:NM_000313:exon9:c.C946T:p.R316C	Thrombophilia due to protein S deficiency, autosomal dominant, Autosomal dominant;Thrombophilia due to protein S deficiency, autosomal recessive, Autosomal recessive	YES	.	.	.	.	.	.	.	.	.	171092	Thrombophilia_due_to_protein_S_deficiency,_autosomal_dominant	MONDO:MONDO:0012868,MedGen:C3278211,OMIM:612336,Orphanet:26349,Orphanet:743	no_assertion_criteria_provided	Uncertain_significance	.	.	.	.	.	.	.	.	0	D	0.994	D	0.451	P	0.000	D	0.996	D	2.39	M	-1.29	T	-0.099	T	0.458	T	0.828	3.038	16.14	3.27	0.929	2.991	9.760	0.772	0.211630375543	7.7e-05	.	8.304e-06	0.0001	0	0	0	0	0	0	6.5e-06	1	154602	rs373983977	1.986e-05	1.984e-05	1.772e-05	2.202e-05	5.986e-05	1.394e-05	1.205e-05	1.297e-05	1.107e-05	5.986e-05	0	0	2.523e-05	3.746e-05	0	1.981e-05	0	2.32e-05	1.315e-05	1.314e-05	1.285e-05	1.347e-05	2.94e-05	2.19e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.94e-05	0	0	0.001	0.78490	D	0.0	0.92824	D	0.994	0.66517	D	0.451	0.46123	P	0.000345	0.45440	D	0.140326	0.996465	0.43220	D	2.455	0.71248	M	-1.29	0.79475	T	-5.55	0.86222	D	0.573	0.59563	-0.0993	0.80114	T	0.458	0.78906	T	10	0.79052854	0.78621	D	0.21163	0.87314	D	0.772	0.92336	.	.	0.884098710478	0.88296	0.840314568435197	0.83991	0.857722285798	0.68820	0.374407976866	0.21462	T	0.914914	0.98428	D	0.137353	0.68072	D	0.141049	0.79612	D	0.97763192653656	0.71938	D	0.962554	0.87544	D	0.41946554	0.62056	0.3013882	0.56171	0.42343158	0.62320	0.2826289	0.54251	-12.918	0.89022	D	0.6004163980831876	0.66741	0.168	0.42578	B	.;.;.;.;.;.	.;.;.;.;.;.	4.891198	0.80306	27.3	0.9989055907089649	0.96436	0.85839	0.45018	D	AEFI	0.703703	0.65965	D	0.315380665006207	0.56936	3.859433	0.26823352362745	0.53693	3.537079	4.95242543320642E-5	0.03989	0.638212	0.43195	0	0.573888	0.26702	0	0.653264	0.51672	0	0.668105	0.65232	0	.	.	4.17	3.27	0.36580	3.333000	0.51806	9.668000	0.81212	0.481000	0.22134	1.000000	0.71638	1.000000	0.68203	0.989000	0.64315	0.0:0.0:0.527:0.473	9.760	0.39691	608	0.67185	Laminin G domain;Laminin G domain;.;Laminin G 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	2697.98	37	chr3	93896595	.	G	A	2697.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.52;DP=914;ExcessHet=0.0000;FS=5.428;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=58.40;MQRankSum=2.00;QD=12.15;ReadPosRankSum=2.79;SOR=0.779	GT:AD:DP:GQ:PL	0/1:115,107:222:99:2712,0,2774	20	0	1	0
chr3	97876679	97876679	G	A	exonic	CRYBG3	.	nonsynonymous SNV	CRYBG3:NM_153605:exon4:c.G5485A:p.V1829I,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	6.841e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.498	0.11263	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.038	0.01203	.	.	.	.	.	.	.	0.093532234	0.16559	T	.	.	.	.	.	.	.	0.649314703251	0.64640	0.02279940728365987	0.02231	.	.	.	.	.	0.002528	0.01914	T	-0.210633	0.19290	T	-0.540336	0.18263	T	.	.	.	0.630437	0.24556	T	0.0154797435	0.00141	0.0631296	0.12458	0.0154797435	0.00141	0.0631296	0.12458	-3.973	0.23398	T	.	.	0.076	0.06114	B	.	.	-0.174721	0.03221	0.538	0.62637516100819468	0.07014	0.01068	0.03958	N	AEFBI	.	.	.	.	.	.	.	.	.	6.49206290079249E-5	0.04366	0.162113	0.03585	0	0.084543	0.02171	0	0.183335	0.04453	0	0.24566	0.04862	0	0.0777541	0.17876	4.56	0.686	0.17179	-0.430000	0.07043	0.190000	0.15733	0.676000	0.76740	0.000000	0.06391	0.000000	0.08366	0.016000	0.10718	0.5109:0.0:0.4891:0.0	7.209	0.25101	798	0.45050	.	.	.	.	.	.	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	0.07895	73.95	40	chr3	97876679	.	G	A	73.95	.	AC=3;AF=0.079;AN=38;BaseQRankSum=-4.141e+00;DP=2512;ExcessHet=0.3300;FS=138.063;InbreedingCoeff=-0.1030;MLEAC=2;MLEAF=0.053;MQ=60.00;MQRankSum=0.00;QD=0.16;ReadPosRankSum=1.12;SOR=8.801	GT:AD:DP:GQ:PL	0/1:126,34:168:23:23,0,2590	16	0	3	2
chr3	98025619	98025619	C	G	exonic	GABRR3	.	nonsynonymous SNV	GABRR3:NM_001105580:exon3:c.G186C:p.E62D,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0003	0.0011	0.0003	0.0003	0.0004	0.0003	0.0003	0.0004	0.0004	0.0003	0	7.677e-05	2.526e-05	1.873e-05	0.0002	0.0004	0.0003	4.662e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.111	0.37173	T	0.029	0.19866	B	0.098	0.30479	B	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.202	0.22357	.	.	.	.	.	.	.	0.10471362	0.19318	T	.	.	.	.	.	.	.	0.352476196916	0.34857	0.40720103366486365	0.40636	.	.	.	.	.	0.006922	0.06344	T	-0.218202	0.18239	T	-0.551208	0.17211	T	.	.	.	0.407359	0.10471	T	0.03210559	0.03173	0.050597325	0.07975	0.03210559	0.03173	0.050597325	0.07974	-3.351	0.14404	T	.	.	0.132	0.28435	B	.;.	.;.	0.811300	0.11821	8.392	0.99029985120482455	0.50786	0.65308	0.32694	D	AEFBHCI	0.127138	0.24438	N	.	.	.	.	.	.	0.114311401285484	0.16729	0.497415	0.19182	0	0.547309	0.14657	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	4.85	-0.445	0.11631	-0.039000	0.12076	.	.	0.597000	0.34315	0.594000	0.27698	0.000000	0.08366	0.053000	0.15439	0.145:0.4054:0.0:0.4496	5.182	0.14491	772	0.48957	.;.	.	.	.	.	.	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	155.59	57	chr3	98025619	.	C	G,T	155.59	.	AC=1,3;AF=0.025,0.075;AN=40;BaseQRankSum=-3.105e+00;DP=1411;ExcessHet=0.6776;FS=340.609;InbreedingCoeff=-0.1204;MLEAC=1,3;MLEAF=0.025,0.075;MQ=60.00;MQRankSum=0.00;QD=0.34;ReadPosRankSum=0.606;SOR=10.823	GT:AD:DP:GQ:PL	0/2:49,12,21:82:31:31,84,1195,0,1058,1087	16	0	1	1
chr3	98585475	98585475	G	C	exonic	CPOX	.	nonsynonymous SNV	CPOX:NM_000097:exon5:c.C1138G:p.Q380E,	Coproporphyria, Autosomal dominant;Harderoporphyria, Autosomal dominant	.	0	225	1	0	0	1	0.00221729	.	.	889804	Hereditary_coproporphyria|not_provided	MONDO:MONDO:0007369,MedGen:C0162531,OMIM:121300,Orphanet:79273|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	1	T	0.001	B	0.001	B	0.000	D	0.854	N	-0.89	N	-3.06	D	-0.659	T	0.364	T	0.112	0.147	4.792	5.03	1.484	3.634	10.132	0.242	0.0106727827972	.	.	6.642e-05	0	0	0.0003	0	7.565e-05	0	0	5.17e-05	8	154602	rs201231166	4.584e-05	4.583e-05	4.901e-05	4.263e-05	0.0005	3.662e-05	3.348e-05	0.0003	0.0003	0	2.236e-05	0.0005	0.0005	0	0.0002	2.249e-05	3.313e-05	5.797e-05	3.942e-05	3.937e-05	1.285e-05	6.719e-05	0.0004	1.715e-05	1.129e-05	6.84e-05	2.862e-05	0	0	0	0	0.0004	0	0	5.881e-05	0	0	1.0	0.00964	T	1.0	0.01155	T	0.001	0.07471	B	0.001	0.04355	B	0.000004	0.62929	D	0.103834	0.854182	0.28452	N	-0.71	0.01811	N	-3.06	0.92457	D	0.31	0.04022	N	0.106	0.09066	-0.6593	0.62307	T	0.364	0.72522	T	10	0.052722216	0.05350	T	0.010673	0.27473	T	0.242	0.54781	0.399	0.42753	0.887633965512	0.88653	0.26210163392497643	0.26123	0.567486449142	0.53010	0.291867256165	0.09194	T	0.108485	0.42156	T	-0.29288	0.09349	T	-0.349611	0.39250	T	0.0159110594024215	0.00376	T	0.845215	0.52386	T	0.18898988	0.40421	0.123694345	0.29825	0.18898988	0.40421	0.123694345	0.29824	-1.937	0.02952	T	0.06624584877900486	0.02244	0.055	0.00382	B	.;.	.;.	1.572756	0.20133	14.60	0.83484039459108028	0.14751	0.86673	0.46004	D	ALL	0.289179	0.40089	N	-0.480809672790579	0.22711	1.214564	-0.186420702594028	0.32034	1.818615	1.0	0.98316	0.706548	0.73137	0	0.581341	0.33841	0	0.693117	0.63056	0	0.714379	0.83352	0	.	.	5.9	5.03	0.67015	3.707000	0.54568	.	.	-0.107000	0.15377	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:0.1481:0.6983:0.1536	10.132	0.41857	487	0.76954	.;.	.	.	.	.	.	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	3106.98	33	chr3	98585475	.	G	C	3106.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.577e+00;DP=944;ExcessHet=0.0000;FS=5.097;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.38;ReadPosRankSum=0.505;SOR=0.994	GT:AD:DP:GQ:PL	0/1:124,127:251:99:3121,0,3358	20	0	1	0
chr3	100748210	100748210	A	T	exonic	TFG	.	nonsynonymous SNV	TFG:NM_001007565:exon8:c.A882T:p.Q294H	Hereditary motor and sensory neuropathy, Okinawa type, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.13	T	0.785	P	0.26	B	0.031	N	0.954	D	0.55	N	0.81	T	-1.084	T	0.061	T	0.513	2.574	14.57	-2.09	-0.240	-0.147	7.714	0.059	0.0182829465899	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.007	0.59928	D	0.523	0.27855	T	0.679	0.41373	P	0.133	0.33073	B	0.030876	0.25247	N	0.453994	0.953588	0.37837	D	1.7	0.43825	L	0.78	0.49358	T	-1.45	0.35597	N	0.227	0.25499	-1.0837	0.06646	T	0.061	0.25492	T	10	0.20861343	0.37196	T	0.018283	0.40290	T	0.143	0.38195	0.302	0.27003	0.705356058075	0.70279	0.13123349662016123	0.13048	0.479168406073	0.46961	0.468470573425	0.34469	T	0.207467	0.56712	T	-0.00893711	0.50413	T	-0.250614	0.49757	T	0.656803965568542	0.38756	D	0.813919	0.46746	T	0.05763543	0.11495	0.076843545	0.17059	0.05763543	0.11495	0.076843545	0.17059	-6.985	0.54413	T	0.2561985296782637	0.34635	0.250	0.52043	B	.;.;.;.	.;.;.;.	2.161685	0.27541	17.50	0.98472822414162686	0.41873	0.60532	0.31222	D	AEFDBCI	0.426107	0.49060	N	-0.307870303753261	0.28849	1.594659	-0.262333787269033	0.29350	1.643614	0.988693014208035	0.31598	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	6.16	-2.09	0.06831	-0.149000	0.10189	0.458000	0.18589	0.750000	0.87069	0.898000	0.31380	0.720000	0.26347	0.999000	0.91618	0.5209:0.1136:0.3655:0.0	7.714	0.27860	720	0.55521	.;.;.;.	.	.	.	.	.	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	1757.98	42	chr3	100748210	.	A	T	1757.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-9.240e-01;DP=1061;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.88;ReadPosRankSum=1.70;SOR=0.679	GT:AD:DP:GQ:PL	0/1:81,67:148:99:1772,0,2233	20	0	1	0
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|1:22,19:41:99:0|1:100775333_T_C:343,0,288:100775333	4	0	17	0
chr3	100804848	100804848	C	G	exonic	ABI3BP	.	nonsynonymous SNV	ABI3BP:NM_001349332:exon20:c.G1670C:p.R557P	.	.	429	1073	19	1	0	21	0.00969082	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.15	T	0.357	B	0.069	B	0.634	N	1.000	N	1.195	L	2.11	T	-0.999	T	0.070	T	0.475	1.844	12.13	-8.04	-1.459	-3.011	5.204	0.017	0.0369188699801	0.0008	0.000998403	0.0016	0.0001	0.0010	0	0.0002	0.0015	0.0034	0.0046	0.0013971	216	154602	rs146922324	0.0010	0.0010	0.0008	0.0011	0.0132	0.0009	0.0009	0.0108	0.0099	0.0005	0.0013	3.832e-05	0	0.0003	0.0132	0.0007	0.0012	0.0049	0.0009	0.0009	0.0008	0.0009	0.0046	0.0008	0.0007	0.0031	0.0026	0.0002	0	0.0010	0	0	0.0003	0.0068	0.0011	0.0038	0.0046	0.202	0.49117	T	0.328	0.20164	T	0.357	0.33788	B	0.069	0.27757	B	0.634394	0.05831	N	1.178940	1	0.08975	N	1.355	0.33814	L	2.11	0.58029	T	-1.68	0.40660	N	0.234	0.26354	-0.9994	0.30087	T	0.070	0.28412	T	10	0.003825426	0.00072	T	0.036919	0.57292	D	0.078	0.22779	.	.	0.606186980318	0.60303	0.1905760927735863	0.18975	0.584409154258	0.54121	0.229979485273	0.01966	T	0.024289	0.24842	T	-0.424106	0.01611	T	-0.381572	0.35538	T	0.0220031427266838	0.00909	T	0.725927	0.37153	T	0.19192603	0.40841	0.14755212	0.34913	0.19192603	0.40840	0.14755212	0.34912	.	.	.	.	.	0.162	0.39815	B	.;.;.;.	.;.;.;.	-0.830515	0.01048	0.045	0.98365049274544203	0.40689	0.01349	0.04629	N	AEFBI	0.251608	0.37144	N	-0.937752083884039	0.09970	0.4742376	-1.14110565828453	0.06929	0.3352134	0.999988366678365	0.51787	0.693126	0.56070	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.18	-8.04	0.00980	-4.111000	0.00332	-20.000000	0.00162	0.490000	0.22344	0.000000	0.06391	0.000000	0.08366	0.951000	0.49849	0.0973:0.2461:0.0962:0.5605	5.204	0.14606	725	0.54935	.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	2894.11	33	chr3	100804848	.	C	G	2894.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=3.62;DP=889;ExcessHet=0.1072;FS=1.073;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=13.59;ReadPosRankSum=1.00;SOR=0.804	GT:AD:DP:GQ:PL	0/1:54,53:107:99:1477,0,1236	19	0	2	0
chr3	107377771	107377771	G	A	exonic	CCDC54	.	nonsynonymous SNV	CCDC54:NM_032600:exon1:c.G184A:p.G62R,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06	T	0.17	B	0.027	B	0.130	N	1.000	N	0	N	0.84	T	-1.062	T	0.030	T	0.05	0.208	5.123	1.74	0.312	2.076	7.921	0.044	.	0.0081	0.00499201	0.0020	0.0222	0.0007	0	0	7.494e-05	0.0022	0	0.0018823	291	154602	rs116546605	0.0007	0.0007	0.0008	0.0006	0.0231	0.0006	0.0006	0.0217	0.0212	0.0231	0.0015	0	7.559e-05	1.872e-05	0.0009	3.597e-05	0.0014	0.0002	0.0064	0.0064	0.0065	0.0063	0.0219	0.0060	0.0059	0.0207	0.0203	0.0219	0	0.0025	0	0	9.434e-05	0	0.0001	0.0038	0.0004	0.096	0.31088	T	0.018	0.59732	D	0.17	0.28703	B	0.027	0.21085	B	0.130384	0.18660	N	0.441579	0.999995	0.08975	N	0	0.06538	N	0.84	0.47477	T	1.67	0.00599	N	0.201	0.22228	-1.0618	0.11312	T	0.030	0.12979	T	10	0.0035351217	0.00063	T	.	.	.	0.044	0.11924	0.162	0.06618	0.107399877778	0.10242	0.04046608837318997	0.03992	0.0465308909399	0.05060	0.295031487942	0.09662	T	0.002022	0.01432	T	-0.665765	0.00058	T	-0.711516	0.05218	T	0.0134037528383482	0.00243	T	0.284172	0.05010	T	0.028765023	0.02265	0.066893935	0.13764	0.028765023	0.02265	0.066893935	0.13764	-3.795	0.20730	T	.	.	0.095	0.14933	B	.	.	2.326665	0.29799	18.24	0.88973468746993489	0.18406	0.47105	0.27909	N	AEFDBI	0.122462	0.23761	N	-0.811495939471922	0.13016	0.6383349	-0.739208220942943	0.15987	0.8436074	0.0986880301957099	0.16311	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.54	1.74	0.23636	2.192000	0.42281	1.370000	0.25949	-0.825000	0.02924	0.987000	0.36337	0.831000	0.27213	0.000000	0.00833	0.3394:0.0:0.6606:0.0	7.921	0.29006	773	0.48803	.	.	.	.	.	.	Likely benign	0	0	0	0	0	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	2115.98	35	chr3	107377771	.	G	A	2115.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.75;DP=1168;ExcessHet=0.0000;FS=4.260;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.38;ReadPosRankSum=-6.100e-01;SOR=0.858	GT:AD:DP:GQ:PL	0/1:108,78:186:99:2130,0,2688	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	0/2:44,0,32,0,0,0:76:99:1209,1342,3171,0,1829,1731,1342,3171,1829,3171,1342,3171,1829,3171,3171,1342,3171,1829,3171,3171,3171	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	0/2:44,0,32,0,0,0:76:99:1209,1342,3171,0,1829,1731,1342,3171,1829,3171,1342,3171,1829,3171,3171,1342,3171,1829,3171,3171,3171	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	0/2:44,0,32,0,0,0:76:99:1209,1342,3171,0,1829,1731,1342,3171,1829,3171,1342,3171,1829,3171,3171,1342,3171,1829,3171,3171,3171	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	0/2:44,0,32,0,0,0:76:99:1209,1342,3171,0,1829,1731,1342,3171,1829,3171,1342,3171,1829,3171,3171,1342,3171,1829,3171,3171,3171	0	4	0	0
chr3	119517206	119517206	A	G	exonic	TIMMDC1	.	nonsynonymous SNV	TIMMDC1:NM_016589:exon6:c.A598G:p.T200A,	.	.	430	1091	1	0	0	1	0.000458085	0.0001	0.01	795310	Mitochondrial_complex_1_deficiency,_nuclear_type_31|not_specified|not_provided	MONDO:MONDO:0032634,MedGen:C4748838,OMIM:618251|MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	.	.	0.004	B	0.019	B	0.478	N	0.996	N	1.175	L	1.84	T	-1.021	T	0.072	T	0.417	0.963	8.931	1.46	0.421	0.673	6.416	0.074	0.00539901731319	7.7e-05	.	9.909e-05	0	8.687e-05	0	0	0.0001	0	0.0001	8.41e-05	13	154602	rs200592275	8.132e-05	8.278e-05	8.649e-05	7.611e-05	0.0051	6.919e-05	6.468e-05	0.0036	0.0031	9.073e-05	0.0002	0	0	0	0.0051	5.713e-05	0.0001	0.0001	5.259e-05	5.251e-05	9.001e-05	1.345e-05	6.545e-05	2.558e-05	1.831e-05	1.172e-05	6.25e-06	0	0	6.545e-05	0	0	0	0.0136	4.413e-05	0	0	0.092	0.31682	T	0.269	0.22426	T	0.004	0.12183	B	0.019	0.18783	B	0.477870	0.12201	N	0.764287	0.995928	0.23238	N	1.52	0.38360	L	1.84	0.42122	T	-0.24	0.18459	N	0.239	0.28028	-1.0207	0.23486	T	0.072	0.29387	T	9	0.050963998	0.04906	T	0.005399	0.13862	T	0.074	0.21613	.	.	0.0611884634855	0.05136	0.2992644780324871	0.29839	0.161424824733	0.18220	0.37573081255	0.21650	T	0.001467	0.09336	T	-0.31335	0.07456	T	-0.451213	0.27563	T	0.0136340912431479	0.00253	T	0.578742	0.23263	T	0.027109304	0.01857	0.03192444	0.01852	0.027109304	0.01857	0.03192444	0.01852	-2.463	0.05534	T	0.13396400801182445	0.14427	0.089	0.16231	B	.;.;.	.;.;.	0.855048	0.12271	8.815	0.92459825013898134	0.21885	0.16164	0.19261	N	AEFGBI	0.051413	0.09081	N	-0.615219485031728	0.18487	0.9601618	-0.57309341207633	0.20196	1.086987	0.00884054780145815	0.11750	0.706548	0.73137	0	0.697927	0.68747	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.28	1.46	0.21769	0.661000	0.24706	0.462000	0.18628	0.756000	0.94297	0.195000	0.24249	0.000000	0.08366	0.352000	0.25704	0.694:0.0:0.306:0.0	6.416	0.20918	759	0.50631	.;.;.	.	.	.	.	.	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	839.98	36	chr3	119517206	.	A	G	839.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.600;DP=791;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.24;ReadPosRankSum=-9.960e-01;SOR=0.610	GT:AD:DP:GQ:PL	0/1:24,35:59:99:854,0,520	20	0	1	0
chr3	126012652	126012652	T	G	exonic	SLC41A3	.	nonsynonymous SNV	SLC41A3:NM_001008486:exon8:c.A960C:p.K320N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.27	T	0.737	P	0.422	B	0.330	N	1.000	N	1.24	L	1.48	T	-1.076	T	0.046	T	0.088	0.054	4.297	-10.9	-1.977	-0.716	9.376	0.029	0.0066443235357	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.368e-06	1.368e-06	1.361e-06	1.375e-06	1.799e-06	2.3e-07	9e-08	3e-07	1.1e-07	0	0	0	0	0	0	1.799e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.239	0.17761	T	0.308	0.22084	T	0.692	0.42882	P	0.297	0.45143	B	0.330184	0.14126	N	0.723471	1	0.08975	N	1.01	0.25309	L	1.48	0.32238	T	-1.06	0.27669	N	0.188	0.31814	-1.0759	0.08164	T	0.046	0.19919	T	10	0.053121477	0.05452	T	0.006644	0.17529	T	0.029	0.06676	0.432	0.48171	0.0806252709748	0.07271	0.29207502029919336	0.29120	0.183954302833	0.20688	0.312983721495	0.12358	T	0.003955	0.03363	T	-0.306145	0.08092	T	-0.677533	0.07135	T	0.39535129070282	0.28767	T	0.723528	0.34774	T	0.036109626	0.04378	0.03403971	0.02402	0.036109626	0.04378	0.03403971	0.02401	-5.811	0.46087	T	.	.	0.113	0.24088	B	.;.;.;.;.	.;.;.;.;.	-0.430489	0.02102	0.197	0.66621034791047695	0.08113	0.03110	0.08046	N	AEFBI	0.072415	0.14451	N	-1.3657198096627	0.02965	0.1317434	-1.57392783627576	0.01816	0.08271548	0.999999996148582	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.43	-10.9	0.00151	-0.620000	0.05661	-5.136000	0.01835	-0.242000	0.07441	0.000000	0.06391	0.000000	0.08366	0.030000	0.13115	0.0:0.3859:0.191:0.4231	9.376	0.37446	900	0.24599	.;.;.;SLC41 divalent cation transporters, integral membrane 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	1489.98	35	chr3	126012652	.	T	G	1489.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.03;DP=799;ExcessHet=0.0000;FS=2.453;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.07;ReadPosRankSum=-8.670e-01;SOR=0.461	GT:AD:DP:GQ:PL	0/1:58,56:114:99:1504,0,1484	20	0	1	0
chr3	126536323	126536323	C	G	exonic	CHST13	.	nonsynonymous SNV	CHST13:NM_152889:exon2:c.C150G:p.S50R,	.	.	432	1072	17	0	1	18	0.00786673	.	.	3297393	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.37	T	0.999	D	0.965	D	0.077	N	0.902	N	2.175	M	-0.4	T	-0.610	T	0.346	T	0.291	1.099	9.486	-3.62	-0.872	-0.315	9.821	0.212	0.0654933683097	0.0008	0.000798722	0.0010	0.0006	0.0004	0	0	0.0014	0.0033	0.0011	0.001022	158	154602	rs147017058	0.0014	0.0014	0.0013	0.0015	0.0153	0.0013	0.0013	0.0127	0.0117	0.0009	0.0007	0.0029	0	0	0.0153	0.0015	0.0016	0.0011	0.0011	0.0011	0.0011	0.0011	0.0015	0.0010	0.0009	0.0013	0.0012	0.0004	0	0.0009	0.0032	0	0	0.0408	0.0015	0.0024	0.0010	0.003	0.68238	D	0.02	0.60337	D	0.999	0.77913	D	0.965	0.71173	D	0.077178	0.21120	N	0.450948	0.901504	0.27691	N	2.455	0.71248	M	-0.4	0.69287	T	-1.61	0.38734	N	0.525	0.55453	-0.6095	0.64424	T	0.346	0.71060	T	10	0.014990956	0.00315	T	0.065493	0.69595	D	0.212	0.50341	0.424	0.46857	0.683872430874	0.68117	0.9055490879127142	0.90527	1.8037777233	0.91694	0.504722952843	0.39487	T	0.007551	0.17550	T	-0.371903	0.03499	T	-0.347522	0.39488	T	0.0500039741012342	0.05501	T	0.79532	0.52582	T	0.13184346	0.30719	0.11423102	0.27574	0.13184346	0.30719	0.11423102	0.27573	-3.17	0.12117	T	.	.	0.634	0.74756	P	.;.	.;.	1.723463	0.21940	15.41	0.99120887092430421	0.52985	0.36346	0.25512	N	AEFBCI	0.165964	0.29251	N	-0.484961235902419	0.22573	1.206271	-0.743055200314894	0.15893	0.8381397	0.998146440410154	0.36487	0.614807	0.35715	0	0.59043	0.45803	0	0.616094	0.41390	0	0.542086	0.14980	0	.	.	3.03	-3.62	0.04251	-0.265000	0.08671	0.014000	0.13486	-0.341000	0.05685	0.933000	0.32380	0.962000	0.29361	0.224000	0.22571	0.0:0.6675:0.0:0.3325	9.821	0.40049	840	0.37365	.;.	.	.	.	.	.	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	1091.98	33	chr3	126536323	.	C	G	1091.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.822;DP=796;ExcessHet=0.0000;FS=0.831;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.70;ReadPosRankSum=-1.120e-01;SOR=0.838	GT:AD:DP:GQ:PL	0/1:45,41:86:99:1106,0,1224	20	0	1	0
chr3	127604898	127604898	A	G	exonic	MCM2	.	nonsynonymous SNV	MCM2:NM_004526:exon4:c.A415G:p.S139G,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08	T	0.345	B	0.113	B	0.011	N	1.000	D	1.5	L	1.93	T	-1.101	T	0.062	T	0.37	0.631	7.392	5.29	1.997	5.950	15.242	0.056	0.0476635761141	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1159044582	5.492e-06	5.472e-06	5.462e-06	5.522e-06	1.166e-05	2.36e-06	1.71e-06	2.62e-06	1.69e-06	0	0	0	0	0	0	6.308e-06	0	1.166e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.286	0.15201	T	0.107	0.37730	T	0.345	0.33546	B	0.113	0.31689	B	0.011459	0.29527	N	0.401287	1	0.81001	D	2.36	0.67893	M	1.93	0.22881	T	-1.87	0.43717	N	0.401	0.44187	-1.1010	0.03973	T	0.062	0.25958	T	10	0.25787702	0.43209	T	0.047664	0.63025	D	0.056	0.15993	0.335	0.32329	0.55116632592	0.54773	0.16815726179835444	0.16735	0.453964407394	0.45080	0.806470870972	0.82950	D	0.101078	0.40749	T	-0.102472	0.36014	T	-0.384971	0.35141	T	0.275000214576721	0.23960	T	0.921908	0.71628	D	0.18227014	0.39437	0.13536389	0.32412	0.18227014	0.39437	0.13536389	0.32411	-5.89	0.45350	T	.	.	0.089	0.12228	B	.	.	3.001232	0.40103	21.1	0.2227580076543037	0.00888	0.90440	0.51618	D	AEFBHCI	0.729585	0.67724	D	-0.00105135954242114	0.41808	2.50736	0.129171674285912	0.46047	2.857274	0.999999999455586	0.74766	0.706548	0.73137	0	0.685571	0.66316	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.29	5.29	0.74430	5.938000	0.69885	11.075000	0.85649	0.674000	0.70861	1.000000	0.71638	1.000000	0.68203	0.205000	0.22041	1.0:0.0:0.0:0.0	15.242	0.73168	911	0.21964	.	.	.	.	.	.	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	864.98	33	chr3	127604898	.	A	G	864.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.970e-01;DP=835;ExcessHet=0.0000;FS=1.788;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.72;ReadPosRankSum=-2.590e-01;SOR=0.497	GT:AD:DP:GQ:PL	0/1:56,33:89:99:879,0,1664	20	0	1	0
chr3	128055734	128055734	T	C	exonic	SEC61A1	.	nonsynonymous SNV	SEC61A1:NM_013336:exon4:c.T203C:p.I68T,	Hyperuricemic nephropathy, familial juvenile, 4, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.813	P	0.991	D	0.000	D	1.000	D	3.135	M	.	.	0.283	D	0.586	D	0.853	4.605	25.1	5.96	2.285	8.040	16.434	0.573	0.091247723289	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.258e-05	0.0002	2.676e-05	1.839e-05	9.196e-05	1.634e-05	1.399e-05	2.437e-05	1.642e-05	9.196e-05	0	0	0	0	0	2.708e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.001	0.83351	D	0.813	0.45457	P	0.991	0.79672	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.275	0.90144	M	.	.	.	-4.32	0.78135	D	0.916	0.91852	0.283	0.87277	D	0.586	0.85162	D	9	0.86147714	0.85369	D	0.091248	0.75671	D	0.573	0.82686	0.675	0.81299	0.76620622527	0.76407	0.9592012447472799	0.95906	2.62425591286	0.98291	0.937776684761	0.99368	D	0.171646	0.89009	T	0.407234	0.90327	D	0.347187	0.90207	D	0.99201911687851	0.82399	D	0.982235	0.93989	D	0.61355335	0.73418	0.63325304	0.78597	0.61355335	0.73420	0.63325304	0.78598	-14.305	0.94006	D	0.9309146123572548	0.97183	0.995	0.95337	P	.;.;.	.;.;.	4.978580	0.82446	27.8	0.99818939875784696	0.90238	0.96469	0.69293	D	AEFBCI	0.955470	0.97334	D	0.872628912596572	0.90357	10.36711	0.841034471038791	0.92481	11.45152	0.999999999999953	0.74766	0.706548	0.73137	0	0.672317	0.65289	0	0.724815	0.87919	0	0.638787	0.57140	0	.	.	5.96	5.96	0.96695	8.017000	0.88732	7.920000	0.74475	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.974000	0.55675	0.0:0.0:0.0:1.0	16.434	0.83709	652	0.62785	Translocon Sec61/SecY, plug domain;Translocon Sec61/SecY, plug domain;Translocon Sec61/SecY, plug domain	.	.	.	.	.	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	0.3333	1753.27	33	chr3	128055734	.	T	C	1753.27	.	AC=14;AF=0.333;AN=42;BaseQRankSum=-2.562e+00;DP=1413;ExcessHet=14.4320;FS=89.774;InbreedingCoeff=-0.4973;MLEAC=14;MLEAF=0.333;MQ=60.00;MQRankSum=0.00;QD=1.78;ReadPosRankSum=0.471;SOR=10.616	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:55,9:64:23:0|1:128055734_T_C:23,0,1907:128055734	7	0	14	0
chr3	129528885	129528885	G	C	exonic	RHO	.	nonsynonymous SNV	RHO:NM_000539:exon1:c.G152C:p.G51A,	Night blindness, congenital stationary, autosomal dominant 1;Retinitis pigmentosa 4, autosomal dominant or recessive, Autosomal recessive, Autosomal dominant;Retinitis punctata albescens, Autosomal recessive, Autosomal dominant	YES	.	.	.	.	.	.	.	.	.	288724	not_provided|Congenital_stationary_night_blindness_autosomal_dominant_1|Retinitis_pigmentosa	MedGen:C3661900|MONDO:MONDO:0012498,MedGen:C1864869,OMIM:610445,Orphanet:215|Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:791	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.05	D	1.0	D	0.997	D	0.000	D	1.000	D	2.285	M	0.77	T	-0.581	T	0.193	T	0.325	4.059	20.9	5.52	2.609	4.386	19.038	0.430	.	0.0025	0.00459265	0.0011	0.0118	0.0003	0	0	8.99e-05	0.0011	0	0.0011125	172	154602	rs149079952	0.0003	0.0003	0.0004	0.0003	0.0103	0.0003	0.0003	0.0094	0.0091	0.0103	0.0005	0	0	0	0.0019	5.396e-05	0.0010	0.0001	0.0028	0.0028	0.0029	0.0028	0.0095	0.0026	0.0025	0.0087	0.0084	0.0095	0	0.0015	0	0	0	0	7.349e-05	0.0028	0.0002	0.044	0.41096	D	0.127	0.35082	T	1.0	0.90584	D	0.997	0.86255	D	0.000006	0.62929	D	0.106321	1	0.81001	D	2.07	0.56829	M	0.77	0.49642	T	-4.13	0.75139	D	0.69	0.69562	-0.5806	0.65593	T	0.193	0.54637	T	10	0.016246676	0.00342	T	.	.	.	0.430	0.73662	.	.	0.892792565662	0.89173	0.9371479934239455	0.93694	0.896665118415	0.70483	0.61914741993	0.55609	T	0.784792	0.94351	D	-0.390064	0.02688	T	-0.325114	0.42012	T	0.0311814557097529	0.02175	T	0.959504	0.84742	D	0.58510035	0.71886	0.7095899	0.82871	0.6781824	0.76872	0.7453305	0.84948	-5.973	0.46053	T	0.2255041211503992	0.30468	0.491	0.64183	A	.	.	3.875245	0.56290	23.7	0.99797263957725646	0.88283	0.93457	0.58268	D	AEFDBI	0.604454	0.59554	D	0.751740995433971	0.83018	7.908503	0.727711915576057	0.84482	8.304422	0.999998064372123	0.74766	0.428477	0.06694	0	0.547309	0.14657	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	5.52	5.52	0.82153	4.489000	0.60035	9.958000	0.82775	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:0.0:1.0:0.0	19.038	0.92968	511	0.75131	.	.	.	.	.	.	Likely benign	0	0	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	2077.98	34	chr3	129528885	.	G	C	2077.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.52;DP=942;ExcessHet=0.0000;FS=1.269;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.32;ReadPosRankSum=0.027;SOR=0.564	GT:AD:DP:GQ:PL	0/1:80,76:156:99:2092,0,2141	20	0	1	0
chr3	129606618	129606618	C	T	exonic	PLXND1	.	nonsynonymous SNV	PLXND1:NM_015103:exon1:c.G22A:p.G8S,	.	.	.	.	.	.	.	.	.	.	.	3366192	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.46	T	0.597	P	0.022	B	0.094	U	1.000	N	0	N	1.25	T	-1.022	T	0.042	T	0.232	0.559	7.025	1.39	0.804	0.507	11.179	0.065	0.114412736595	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1303859961	2.3e-05	2.463e-05	2.077e-05	2.552e-05	0.0010	1.532e-05	1.279e-05	0.0007	0.0006	0.0010	0	0	0	0	0.0004	0	5.266e-05	0	0.0003	0.0002	0.0002	0.0003	0.0009	0.0002	0.0002	0.0006	0.0006	0.0009	0	6.722e-05	0	0	0	0	0	0.0005	0	0.614	0.05404	T	0.57	0.08808	T	0.597	0.39250	P	0.022	0.19653	B	0.093744	0.02480	U	4.030550	0.99205	0.23944	N	0	0.06538	N	1.25	0.36512	T	-0.35	0.12847	N	0.232	0.26111	-1.0225	0.22899	T	0.042	0.18035	T	10	0.13003933	0.24745	T	0.114413	0.79326	D	0.065	0.18881	0.208	0.12497	0.457489361034	0.45375	0.43600970725727733	0.43517	1.13396224435	0.78722	0.851289987564	0.89809	D	0.058496	0.30857	T	-0.52257	0.00425	T	-0.553491	0.16992	T	0.091150313615799	0.11354	T	0.49515	0.15352	T	0.08332486	0.19237	0.110687606	0.26692	0.08332486	0.19237	0.110687606	0.26691	-3.768	0.20327	T	.	.	0.232	0.46447	B	.	.	3.241715	0.44252	21.9	0.91238119098252835	0.20496	0.67976	0.33629	D	AEFDBHCIJ	0.489624	0.52745	N	-0.428300058713345	0.24482	1.322186	-0.366257287214484	0.26011	1.434007	0.999999996494331	0.74766	0.56387	0.32371	0	0.491552	0.07993	0	0.503968	0.08637	0	0.249971	0.05119	0	.	.	1.39	1.39	0.21325	0.772000	0.26309	4.503000	0.43617	0.249000	0.18320	0.885000	0.31090	1.000000	0.68203	0.957000	0.51019	0.0:1.0:0.0:0.0	11.179	0.47843	554	0.71839	.	.	.	.	.	.	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	0.025	393.41	9	chr3	129606618	.	C	T	393.41	.	AC=1;AF=0.025;AN=40;BaseQRankSum=2.87;DP=293;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0420;MLEAC=1;MLEAF=0.025;MQ=60.00;MQRankSum=0.00;QD=19.67;ReadPosRankSum=-7.700e-02;SOR=1.179	GT:AD:DP:GQ:PL	0/1:8,12:20:99:407,0,187	19	0	1	1
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	0/1:39,10,9,0:58:29:.:.:490,0,1069,29,984,1544,513,1196,1445,1841	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	0/1:39,10,9,0:58:29:.:.:490,0,1069,29,984,1544,513,1196,1445,1841	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	0/1:39,10,9,0:58:29:.:.:490,0,1069,29,984,1544,513,1196,1445,1841	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|1:39,27,0:66:99:0|1:130421337_T_C:694,0,1065,810,1145,1955:130421337	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|1:39,27,0:66:99:0|1:130421337_T_C:694,0,1065,810,1145,1955:130421337	0	0	14	6
chr3	130421338	130421338	-	CACC	exonic	COL6A5	.	frameshift insertion	COL6A5:NM_001278298:exon27:c.5015_5016insCACC:p.P1673Tfs*10	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3235	2256.56	51	chr3	130421338	.	T	C,TCACC	2256.56	.	AC=10,1;AF=0.294,0.029;AN=34;BaseQRankSum=-1.635e+00;DP=1199;ExcessHet=7.7275;FS=148.515;InbreedingCoeff=-0.4684;MLEAC=12,1;MLEAF=0.353,0.029;MQ=60.00;MQRankSum=0.00;QD=3.34;ReadPosRankSum=0.071;SOR=10.307	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:50,9,0:59:31:0|1:130421337_T_C:31,0,1768,181,1794,1975:130421337	6	0	10	4
chr3	130565302	130565302	A	G	exonic	COL6A6	.	nonsynonymous SNV	COL6A6:NM_001102608:exon3:c.A970G:p.N324D,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.49	T	0.183	B	0.085	B	0.204	N	1.000	N	0.55	N	-1.73	D	-0.833	T	0.307	T	0.033	-0.349	2.353	-1.69	-0.208	-0.049	5.426	0.117	0.0219298283181	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.268	0.16144	T	0.661	0.06490	T	0.183	0.29179	B	0.085	0.29395	B	0.203673	0.03337	N	1.524160	1	0.08975	N	1.32	0.33002	L	-1.73	0.83327	D	-1.21	0.30762	N	0.062	0.03392	-0.8331	0.53100	T	0.307	0.67759	T	10	0.1610119	0.30213	T	0.02193	0.44763	T	0.117	0.32689	0.474	0.55020	0.303453137403	0.29957	0.5830405772068503	0.58233	0.0845240444545	0.09546	0.311166584492	0.12082	T	0.069369	0.33693	T	-0.2123	0.19057	T	-0.54273	0.18029	T	0.25602975487709	0.23141	T	0.277072	0.04771	T	0.10605072	0.25075	0.07188411	0.15443	0.10605072	0.25075	0.07188411	0.15442	-5.126	0.38180	T	.	.	0.092	0.13409	B	.	.	0.954371	0.13308	9.808	0.73079507606796457	0.10199	0.03817	0.09155	N	AEFBHCI	0.041440	0.06300	N	-1.03606136876118	0.07864	0.3667513	-1.07255110280011	0.08244	0.4044801	1.40037635229007E-4	0.05486	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.01	-1.69	0.07747	0.014000	0.13228	0.744000	0.21184	-0.095000	0.16041	0.000000	0.06391	0.000000	0.08366	0.371000	0.26133	0.3912:0.2848:0.324:0.0	5.426	0.15725	658	0.62094	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	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1461.98	46	chr3	130565302	.	A	G	1461.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.978e+00;DP=947;ExcessHet=0.0000;FS=2.409;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.05;ReadPosRankSum=0.049;SOR=0.500	GT:AD:DP:GQ:PL	0/1:55,57:112:99:1476,0,1573	20	0	1	0
chr3	133811164	133811164	G	C	exonic	SRPRB	.	nonsynonymous SNV	SRPRB:NM_001379313:exon4:c.G375C:p.R125S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	1.0	D	0.999	D	0.060	N	1.000	D	1.98	M	1.67	T	-0.981	T	0.142	T	0.992	3.877	19.70	2.24	0.505	0.421	7.683	0.365	0.0395363560954	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.841e-07	4.788e-06	1.361e-06	0	8.994e-07	0	0	.	.	0	0	0	0	0	0	8.994e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.004	0.74150	D	1.0	0.90584	D	0.999	0.92359	D	0.059867	0.22291	N	0.419105	0.999998	0.58761	D	2.7	0.79018	M	1.67	0.27331	T	-5.99	0.89401	D	0.975	0.98563	-0.9814	0.34678	T	0.142	0.46386	T	10	0.9769599	0.97506	D	0.039536	0.58866	D	0.365	0.68495	0.885	0.97081	0.513448892127	0.50984	0.6556272041057072	0.65498	0.850424933985	0.68512	0.70716047287	0.68180	T	0.301519	0.67397	T	0.214912	0.75294	D	0.0709292	0.74972	D	0.98602956533432	0.76852	D	0.926607	0.72946	D	0.7467684	0.80681	0.6180993	0.77761	0.7467684	0.80682	0.6180993	0.77762	-14.899	0.95611	D	.	.	0.993	0.94496	P	.	.	4.289479	0.65400	24.8	0.99740139576912379	0.83409	0.92031	0.54792	D	AEFBI	0.540829	0.55723	D	0.357132536362098	0.59118	4.088559	0.289358020393427	0.54918	3.65547	0.877412702490473	0.25545	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.44	2.24	0.27264	0.441000	0.21325	2.252000	0.31695	0.676000	0.76740	0.998000	0.41325	1.000000	0.68203	0.999000	0.91618	0.2987:0.0:0.7013:0.0	7.683	0.27690	817	0.41665	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.08333	33.3	121	chr3	133811164	.	G	C	33.3	.	AC=3;AF=0.083;AN=36;BaseQRankSum=-1.169e+00;DP=2243;ExcessHet=0.3300;FS=109.461;InbreedingCoeff=-0.1346;MLEAC=2;MLEAF=0.056;MQ=60.00;MQRankSum=0.00;QD=0.07;ReadPosRankSum=0.524;SOR=9.250	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:109,19:128:9:.:.:9,0,3683	15	0	3	3
chr3	134604015	134604015	C	T	exonic	KY	.	nonsynonymous SNV	KY:NM_001350859:exon10:c.G1502A:p.R501Q	Myopathy, myofibrillar, 7, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	3455977	Inborn_genetic_diseases	MeSH:D030342,MedGen:C0950123	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.27	T	0.663	P	0.087	B	0.075	N	1.000	D	0.895	L	.	.	-1.023	T	0.097	T	0.101	2.080	12.91	5.63	2.659	2.379	13.903	0.046	0.00251291165416	0.0002	.	1.66e-05	0.0001	0	0	0	1.502e-05	0	0	1.29e-05	2	154602	rs372438078	3.284e-05	3.283e-05	3.812e-05	2.751e-05	5.974e-05	2.544e-05	2.249e-05	2.54e-05	2.224e-05	5.974e-05	4.472e-05	0	0	0	0	3.418e-05	4.969e-05	3.478e-05	5.256e-05	5.253e-05	2.569e-05	8.069e-05	0.0002	2.557e-05	1.83e-05	3.249e-05	1.915e-05	9.651e-05	0	0	0	0	0	0	2.94e-05	0.0005	0.0002	0.433	0.11882	T	0.243	0.24193	T	0.466	0.40973	P	0.029	0.29615	B	0.075271	0.21233	N	0.446636	1	0.81001	D	0.945	0.23706	L	.	.	.	-0.5	0.15782	N	0.131	0.15749	-1.0233	0.22638	T	0.097	0.36367	T	9	0.13053986	0.24844	T	0.002513	0.05009	T	0.046	0.12618	.	.	0.659689046486	0.65684	0.39230434107349016	0.39145	0.18743966345	0.21061	0.250509858131	0.03821	T	.	.	.	-0.347744	0.04870	T	-0.555758	0.16777	T	0.080533042550087	0.10055	T	0.824718	0.48674	T	.	.	.	.	.	.	.	.	-3.779	0.20491	T	.	.	0.079	0.07365	B	.;.	.;.	2.806027	0.36928	20.4	0.99682677611055959	0.79373	0.72274	0.35381	D	AEFBI	0.258350	0.37690	N	0.0541782496962781	0.44335	2.709451	0.199801988735559	0.49835	3.18221	0.998718572811228	0.37518	0.487112	0.14033	0	0.59043	0.45803	0	0.59043	0.30614	0	0.564101	0.26826	0	.	.	5.63	5.63	0.86108	2.434000	0.44460	2.250000	0.31680	0.599000	0.40250	0.944000	0.32806	0.031000	0.21272	0.870000	0.41412	0.0:0.9273:0.0:0.0727	13.903	0.63323	891	0.26808	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2097.98	81	chr3	134604015	.	C	T	2097.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.05;DP=1915;ExcessHet=0.0000;FS=5.180;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.43;ReadPosRankSum=0.310;SOR=0.936	GT:AD:DP:GQ:PL	0/1:59,77:138:99:2112,0,1433	20	0	1	0
chr3	155828301	155828301	A	G	exonic	SLC33A1	.	nonsynonymous SNV	SLC33A1:NM_001363883:exon4:c.T1253C:p.I418T	Congenital cataracts, hearing loss, and neurodegeneration, Autosomal recessive;Spastic paraplegia 42, autosomal dominant, Autosomal dominant	.	49	1468	5	0	0	5	0.0017001	.	.	1025070	Hereditary_spastic_paraplegia_42|Spastic_paraplegia|Hereditary_spastic_paraplegia	MONDO:MONDO:0012928,MedGen:C2675528,OMIM:612539,Orphanet:171863|Human_Phenotype_Ontology:HP:0001258,Human_Phenotype_Ontology:HP:0007062,Human_Phenotype_Ontology:HP:0007124,Human_Phenotype_Ontology:HP:0007216,MedGen:C0037772|MONDO:MONDO:0019064,MedGen:C0037773,OMIM:PS303350,Orphanet:685	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.06	T	0.924	P	0.776	P	0.000	D	1.000	D	2.435	M	-0.75	T	0.095	D	0.531	D	0.596	4.417	23.4	5.78	2.213	9.194	16.147	0.573	0.0589906039522	.	.	0.0003	0	0	0	0.0003	0.0001	0	0.0017	3.84e-05	1	26028	rs777143987	0.0002	0.0002	0.0001	0.0002	0.0016	0.0001	0.0001	0.0014	0.0013	0	0	0.0004	0	5.617e-05	0.0003	5.522e-05	0.0002	0.0016	0.0001	0.0001	8.998e-05	0.0001	0.0012	7.574e-05	6.279e-05	0.0005	0.0004	2.406e-05	0	6.54e-05	0.0006	0.0002	0.0002	0	7.352e-05	0	0.0012	0.006	0.61437	D	0.01	0.69154	D	0.924	0.51285	P	0.776	0.57120	P	0.000012	0.62929	D	0.151423	0.999995	0.58761	D	3.06	0.86941	M	-0.75	0.73311	T	-3.42	0.69236	D	0.343	0.62866	0.095	0.84088	D	0.531	0.82583	D	10	0.17611331	0.32579	T	0.058991	0.67511	D	0.573	0.82686	.	.	0.954973333196	0.95449	0.6529530620074152	0.65231	1.0569488423	0.76337	0.564400911331	0.47888	T	0.473844	0.80554	T	-0.181594	0.23500	T	-0.0526382	0.66841	D	0.324891849586662	0.26019	T	0.865813	0.57527	D	0.3343199	0.55823	0.42749006	0.66493	0.3343199	0.55823	0.42749006	0.66493	-7.392	0.56848	T	0.557821285537123	0.62581	0.103	0.33481	B	.;.;.;.;.	.;.;.;.;.	4.555415	0.71734	25.7	0.99845598202370622	0.92576	0.97535	0.75383	D	AEFGBCI	0.891394	0.82732	D	0.784201918926261	0.85109	8.478733	0.790676131676835	0.89136	9.853294	0.999999999998371	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.608884	0.39905	0	0.727631	0.95156	0	.	.	5.78	5.78	0.91418	9.181000	0.94000	11.264000	0.91177	0.733000	0.85838	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	1.0:0.0:0.0:0.0	16.147	0.81393	852	0.35056	.;.;.;.;.	.	.	.	.	.	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	1187.98	34	chr3	155828301	.	A	G	1187.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.273e+00;DP=764;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=56.91;MQRankSum=-2.600e-02;QD=13.35;ReadPosRankSum=-1.160e-01;SOR=0.760	GT:AD:DP:GQ:PL	0/1:39,50:89:99:1202,0,999	20	0	1	0
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|1:165,39:204:99:0|1:157381266_G_C:990,0,6709:157381266	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|1:166,39:205:99:0|1:157381266_G_C:987,0,6751:157381266	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	0/2:163,9,21:193:99:.:.:852,300,7245,0,6531,6600	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	0/2:163,9,21:193:99:.:.:852,300,7245,0,6531,6600	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|2:157,9,21:187:99:0|1:157381266_G_C:871,300,6993,0,6279,6348:157381266	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|2:157,9,21:187:99:0|1:157381266_G_C:871,300,6993,0,6279,6348:157381266	8	0	3	7
chr3	169116511	169116511	G	A	exonic	MECOM	.	nonsynonymous SNV	MECOM:NM_001105078:exon7:c.C797T:p.T266M	Radioulnar synostosis with amegakaryocytic thrombocytopenia 2, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	2679223	Inborn_genetic_diseases|not_provided	MeSH:D030342,MedGen:C0950123|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.01	D	0.983	D	0.674	P	0.001	D	1.000	D	0.345	N	3.54	T	-1.068	T	0.024	T	0.508	3.457	17.71	6.03	2.861	9.476	20.557	0.255	0.0237021468509	.	.	1.648e-05	0	0	0.0001	0	1.499e-05	0	0	1.29e-05	2	154602	rs768521397	8.893e-06	8.893e-06	9.529e-06	8.25e-06	0.0002	4.96e-06	3.82e-06	8.198e-05	5.784e-05	0	2.236e-05	0	0.0002	0	0	3.597e-06	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.68238	D	0.015	0.61642	D	0.969	0.56768	D	0.584	0.50293	P	0.000506	0.43753	D	0.198423	0.999815	0.49394	D	.	.	.	3.44	0.05778	T	-0.56	0.19085	N	0.695	0.70000	-1.0677	0.09926	T	0.024	0.10374	T	10	0.28256	0.45834	T	0.023702	0.46671	T	0.255	0.56562	0.321	0.30064	0.043077524339	0.03247	0.31438643720561144	0.31351	0.671313577095	0.59453	0.669498860836	0.62767	T	0.026135	0.19403	T	-0.27452	0.11258	T	-0.339956	0.40350	T	0.500829756259918	0.32660	D	0.984602	0.94707	D	0.08557166	0.19855	0.14054151	0.33498	0.08557166	0.19854	0.14054151	0.33497	-4.663	0.34905	T	.	.	0.111	0.27069	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	5.649806	0.92802	33	0.99821852418882506	0.90502	0.99365	0.95074	D	AEFDBI	0.942760	0.94774	D	0.583192421077753	0.72125	5.756913	0.705074564456488	0.82764	7.848516	1.0	0.98316	0.722319	0.85440	0	0.573888	0.26702	0	0.602189	0.34648	0	0.735409	0.98432	0	.	.	6.03	6.03	0.97798	9.602000	0.97623	11.936000	0.99985	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:1.0:0.0	20.557	0.99307	705	0.57330	.;.;.;.;.;.;.;.	.	.	.	.	.	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	2031.98	36	chr3	169116511	.	G	A	2031.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.49;DP=852;ExcessHet=0.0000;FS=2.879;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.28;ReadPosRankSum=0.513;SOR=0.933	GT:AD:DP:GQ:PL	0/1:80,73:153:99:2046,0,1978	20	0	1	0
chr3	169143748	169143748	C	A	exonic	MECOM	.	nonsynonymous SNV	MECOM:NM_001105077:exon3:c.G88T:p.A30S	Radioulnar synostosis with amegakaryocytic thrombocytopenia 2, Autosomal dominant	.	436	1039	45	2	0	49	0.0230371	.	.	3221779	MECOM-related_disorder	.	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.12	T	0.548	P	0.089	B	.	.	1.000	D	1.795	L	2.93	T	-0.430	T	0.301	T	0.423	4.026	20.6	6.07	2.885	5.423	20.659	0.161	.	0.0032	0.00678914	0.0047	0.0037	0.0029	0	0.0003	0.0032	0.0168	0.0159	0.0043725	676	154602	rs116535717	0.0030	0.0030	0.0025	0.0035	0.0203	0.0029	0.0029	0.0173	0.0162	0.0041	0.0026	0.0066	5.06e-05	7.505e-05	0.0203	0.0020	0.0041	0.0157	0.0040	0.0040	0.0037	0.0044	0.0170	0.0038	0.0037	0.0140	0.0129	0.0035	0.0581	0.0051	0.0104	0.0004	9.427e-05	0.0136	0.0029	0.0057	0.0170	0.003	0.68238	D	0.133	0.37449	T	0.548	0.38076	P	0.089	0.29769	B	.	.	.	.	0.529527	0.81001	D	.	.	.	2.93	0.76948	T	-1.11	0.31778	N	0.623	0.63798	-0.4302	0.71060	T	0.301	0.67195	T	9	0.007782936	0.00177	T	.	.	.	0.161	0.41658	.	.	0.597383033342	0.59418	0.343292361843405	0.34242	0.922736141103	0.71521	0.65283703804	0.60388	T	.	.	.	-0.282396	0.10415	T	-0.165445	0.57859	T	0.0180087818442308	0.00525	T	0.817418	0.47426	T	0.17458437	0.38271	0.17883569	0.40579	0.18525617	0.39879	0.21110153	0.45524	-7.376	0.56735	T	.	.	0.138	0.30264	B	.;.	.;.	4.257225	0.64674	24.7	0.99621839617057428	0.75473	0.97359	0.74250	D	AEFDBI	0.833764	0.75192	D	0.30786349462989	0.56551	3.820003	0.420312686123832	0.62833	4.505449	0.999999999992753	0.74766	0.627647	0.40530	0	0.59043	0.45803	0	0.563428	0.18855	0	0.657601	0.63696	0	.	.	6.07	6.07	0.98675	5.602000	0.67298	7.728000	0.67649	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.846000	0.39970	0.0:1.0:0.0:0.0	20.659	0.99629	714	0.56256	.;SET domain|SET domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	2633.11	35	chr3	169143748	.	C	A	2633.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.949;DP=864;ExcessHet=0.1072;FS=1.684;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=12.54;ReadPosRankSum=-2.810e-01;SOR=0.554	GT:AD:DP:GQ:PL	0/1:44,43:87:99:1128,0,1065	19	0	2	0
chr3	169869677	169869677	G	A	exonic	LRRC31	.	nonsynonymous SNV	LRRC31:NM_001277127:exon1:c.C131T:p.S44F	.	.	434	1083	4	0	1	5	0.00184332	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.71	T	0.0	B	0.001	B	0.616	N	1.000	N	0	N	3.48	T	-0.938	T	0.013	T	0.109	-0.106	3.481	-2.23	-0.814	-0.151	6.563	0.012	0.0024671868124	0.0013	0.000399361	0.0016	0.0003	8.666e-05	0	0.0009	0.0024	0.0011	0.0015	0.0015394	238	154602	rs190983691	0.0018	0.0018	0.0018	0.0018	0.0020	0.0017	0.0017	0.0020	0.0019	0.0004	0.0003	0.0002	2.529e-05	0.0009	0.0009	0.0020	0.0019	0.0015	0.0013	0.0013	0.0014	0.0012	0.0021	0.0012	0.0011	0.0018	0.0017	0.0003	0.0011	0.0016	0	0	0.0007	0	0.0021	0.0024	0.0010	0.786	0.04107	T	0.909	0.04416	T	0.0	0.02946	B	0.001	0.04355	B	0.616187	0.05729	N	1.231350	1	0.08975	N	0.455	0.12820	N	3.06	0.09635	T	-0.18	0.19085	N	0.079	0.06059	-0.9380	0.42932	T	0.013	0.04938	T	10	0.0061742663	0.00139	T	0.002467	0.04896	T	0.012	0.01476	.	.	0.0716867268079	0.06686	0.08705450324807751	0.08639	0.0308292728912	0.03189	0.228200078011	0.01837	T	0.003763	0.03171	T	-0.680137	0.00048	T	-0.752168	0.03402	T	0.00681099691094371	0.00077	T	0.534647	0.17878	T	0.04189775	0.06254	0.05905598	0.11019	0.04189775	0.06254	0.05905598	0.11018	-5.287	0.40977	T	.	.	0.071	0.05103	B	.;.;.	.;.;.	-0.450547	0.02032	0.183	0.24405598254519567	0.01077	0.01614	0.05222	N	AEFDBIJ	0.041875	0.06423	N	-1.32334111164713	0.03409	0.1522516	-1.34660816940294	0.03845	0.1802358	0.201713573702428	0.18131	0.446893	0.09132	0	0.491513	0.07743	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	4.4	-2.23	0.06539	-0.030000	0.12257	-0.049000	0.12570	0.676000	0.76740	0.000000	0.06391	0.000000	0.08366	0.024000	0.12247	0.3316:0.1528:0.5156:0.0	6.563	0.21691	422	0.81333	.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	507.98	33	chr3	169869677	.	G	A	507.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.725;DP=694;ExcessHet=0.0000;FS=1.193;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.39;ReadPosRankSum=0.092;SOR=0.919	GT:AD:DP:GQ:PL	0/1:18,23:41:99:522,0,358	20	0	1	0
chr3	194653109	194653109	T	G	exonic	LSG1	.	nonsynonymous SNV	LSG1:NM_018385:exon8:c.A793C:p.T265P,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.27	T	0.0	B	0.001	B	0.080	N	1.000	N	1.04	L	0.93	T	-1.075	T	0.071	T	0.098	1.039	9.244	-0.653	-0.102	-0.087	0.613	0.051	0.00367043453226	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.259	0.16628	T	0.27	0.22359	T	0.0	0.02946	B	0.001	0.04355	B	0.079780	0.02341	N	1.727610	1	0.08975	N	2.075	0.57047	M	0.93	0.44065	T	-0.16	0.09460	N	0.074	0.04790	-1.0754	0.08266	T	0.071	0.28839	T	10	0.04971406	0.04600	T	0.00367	0.08464	T	0.051	0.14325	0.204	0.11936	0.130388298395	0.12655	0.21414746293615586	0.21330	0.135197303917	0.15242	0.285057544708	0.08207	T	0.005151	0.04592	T	-0.302829	0.08394	T	-0.67277	0.07432	T	0.064114409503839	0.07799	T	0.383062	0.09347	T	0.041734353	0.06202	0.048587486	0.07247	0.041734353	0.06201	0.048587486	0.07247	-3.653	0.18627	T	.	.	0.071	0.03887	B	.	.	0.446170	0.08165	4.896	0.72923412262145371	0.10144	0.07343	0.13364	N	AEFBI	0.096516	0.19482	N	-1.03745515036295	0.07836	0.3653749	-1.09759992729531	0.07747	0.3780736	0.0025014401785571	0.09486	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.34	-0.653	0.10872	0.011000	0.13162	-0.428000	0.09240	0.665000	0.62972	0.000000	0.06391	0.000000	0.08366	0.171000	0.21011	0.1686:0.192:0.1752:0.4643	0.613	0.00715	922	0.19044	Circularly permuted (CP)-type guanine nucleotide-binding (G) 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	1143.98	43	chr3	194653109	.	T	G	1143.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.57;DP=915;ExcessHet=0.0000;FS=1.888;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.71;ReadPosRankSum=-8.120e-01;SOR=1.012	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:50,40:90:99:0|1:194653103_T_C:1158,0,1372:194653103	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	1/1:0,8:8:24:253,24,0	9	2	5	5
chr3	195725704	195725704	C	0	exonic	MUC20	.	.	.	.	.	572	884	39	0	27	66	0.0215827	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	53.89	38	chr3	195725704	.	C	T,*	53.89	.	AC=1,4;AF=0.033,0.133;AN=30;BaseQRankSum=-3.213e+00;DP=1678;ExcessHet=0.0000;FS=40.690;InbreedingCoeff=0.3516;MLEAC=1,5;MLEAF=0.033,0.167;MQ=40.34;MQRankSum=0.190;QD=0.27;ReadPosRankSum=-3.371e+00;SOR=0.089	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:81,10,0:91:65:.:.:65,0,307,192,337,529	12	0	1	6
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|1:474,150,0:624:99:0|1:195778940_TGTCGGTGACAGGAAGAGGGGTGGCGTGACCTGTGGATGCTGAGGAAGTGTCGGTGACAGGAAGAGGGGTGGTGTCACCTGTGGATGCTGAGGAAGTGCTGGTGACAGGAAGAGGGGTGCCGTGACCTGTGGACACTGAGGAAGC_T:3488,0,18664,4923,19082,24004:195778940	6	0	5	8
chr3	195778967	195778967	G	0	exonic	MUC4	.	.	.	.	.	444	848	112	0	118	230	0.0619469	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2083	1663.5	302	chr3	195778967	.	G	C,*	1663.5	.	AC=2,3;AF=0.083,0.125;AN=24;BaseQRankSum=2.58;DP=7152;ExcessHet=1.3830;FS=0.614;InbreedingCoeff=-0.1308;MLEAC=3,5;MLEAF=0.125,0.208;MQ=58.02;MQRankSum=0.102;QD=0.77;ReadPosRankSum=-1.159e+00;SOR=0.726	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:474,0,150:624:99:0|1:195778940_TGTCGGTGACAGGAAGAGGGGTGGCGTGACCTGTGGATGCTGAGGAAGTGTCGGTGACAGGAAGAGGGGTGGTGTCACCTGTGGATGCTGAGGAAGTGCTGGTGACAGGAAGAGGGGTGCCGTGACCTGTGGACACTGAGGAAGC_T:3488,4923,24004,0,19082,18664:195778940	7	0	2	9
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|1:474,150,0:624:99:0|1:195778940_TGTCGGTGACAGGAAGAGGGGTGGCGTGACCTGTGGATGCTGAGGAAGTGTCGGTGACAGGAAGAGGGGTGGTGTCACCTGTGGATGCTGAGGAAGTGCTGGTGACAGGAAGAGGGGTGCCGTGACCTGTGGACACTGAGGAAGC_T:3488,0,18664,4923,19082,24004:195778940	5	1	6	6
chr3	195779374	195779374	C	A	exonic	MUC4	.	nonsynonymous SNV	MUC4:NM_018406:exon2:c.G12206T:p.S4069I,	.	.	684	807	3	3	25	34	0.00554529	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.007	B	0.004	B	.	.	0.000	P	0.55	N	0.95	T	-0.996	T	0.000	T	0.084	0.133	4.718	.	0.488	-0.936	3.451	0.014	.	.	0.00299521	0.0003	0.0015	0	0.0119	0	0.0002	0	0	0.0184801	481	26028	rs150394536	0.0009	0.0027	0.0008	0.0009	0.0072	0.0008	0.0008	0.0061	0.0057	0.0004	0.0022	0.0025	0.0072	0.0010	0	0.0005	0.0013	0.0019	0.0003	0.0061	0.0002	0.0004	0.0011	0.0002	0.0002	0.0002	0.0002	0.0002	0	0.0003	0.0009	0	0.0006	0	0.0004	0	0.0011	0.002	0.72154	D	0.056	0.46862	T	.	.	.	.	.	.	.	.	.	.	0.997681	0.58761	P	.	.	.	0.95	0.51474	T	-0.92	0.24676	N	0.054	0.03841	-0.9961	0.31001	T	0.000	0.00011	T	6	0.0044411123	0.00091	T	.	.	.	0.014	0.01968	.	.	0.0806252709748	0.07271	0.003929468286863758	0.00367	.	.	0.550907731056	0.45985	T	.	.	.	-0.721069	0.00027	T	-0.664722	0.07951	T	0.00241374731233886	0.00025	T	0.549445	0.18903	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.127	0.26855	B	.;.	.;.	1.302655	0.17048	12.93	0.9065680457689167	0.19908	0.00254	0.01397	N	AEFBI	0.066007	0.12904	N	-1.23915372028269	0.04444	0.2005883	-1.34796285310444	0.03830	0.1794608	1.1905244374725E-5	0.02871	0.554377	0.28877	0	0.547309	0.14657	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	.	.	.	-3.401000	0.00537	-5.477000	0.01704	-1.810000	0.00613	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.4478:0.552:1.0E-4:1.0E-4	3.451	0.07067	601	0.67921	.;.	.	.	.	.	rs150394536	Likely benign	0	0	0	0	0	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	1896.92	193	chr3	195779374	.	C	A,T	1896.92	.	AC=1,1;AF=0.042,0.042;AN=24;BaseQRankSum=-3.165e+00;DP=3512;ExcessHet=0.1639;FS=4.062;InbreedingCoeff=0.2768;MLEAC=2,2;MLEAF=0.083,0.083;MQ=57.65;MQRankSum=-1.405e+01;QD=3.82;ReadPosRankSum=2.94;SOR=1.060	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:200,18,0:218:99:0|1:195779356_C_G:154,0,8344,756,8398,9154:195779356	10	0	1	9
chr3	195779374	195779374	C	T	exonic	MUC4	.	nonsynonymous SNV	MUC4:NM_018406:exon2:c.G12206A:p.S4069N,	.	.	684	807	3	3	25	34	0.00554529	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.797	P	0.183	B	.	.	1.000	N	0.55	N	0.97	T	-1.073	T	0.057	T	0.053	0.183	4.983	.	0.488	-0.936	3.451	0.043	0.0128577008312	.	.	7.978e-05	0	0	0	0	0.0002	0	0	.	.	.	rs150394536	0.0013	0.0011	0.0011	0.0015	0.0041	0.0012	0.0012	0.0037	0.0035	5.063e-05	0.0001	0.0083	0	0	0.0008	0.0010	0.0019	0.0041	0.0001	0.0004	6.219e-05	0.0002	0.0002	5.226e-05	3.671e-05	0.0001	7.961e-05	0	0	0	0	0	0	0	0.0002	0	0	0.05	0.39575	D	0.145	0.33109	T	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	0.97	0.50976	T	-0.38	0.13418	N	0.027	0.01347	-1.0732	0.08724	T	0.057	0.23980	T	7	0.04491505	0.03503	T	0.012858	0.31797	T	0.043	0.11576	0.132	0.03662	0.0138822411134	0.00435	0.0015149652723430009	0.00140	.	.	0.555448949337	0.46625	T	.	.	.	-0.340207	0.05374	T	-0.72646	0.04489	T	0.0234442759583474	0.01076	T	0.524548	0.17205	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.149	0.32827	B	.;.	.;.	-0.337979	0.02454	0.282	0.57510427609479231	0.05785	0.00260	0.01424	N	AEFBI	0.098906	0.19920	N	-0.957344642240742	0.09529	0.4513623	-1.15047258852807	0.06760	0.3264632	1.1905244374725E-5	0.02871	0.554377	0.28877	0	0.547309	0.14657	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	.	.	.	-3.401000	0.00537	-5.477000	0.01704	-1.810000	0.00613	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.4478:0.552:1.0E-4:1.0E-4	3.451	0.07067	601	0.67921	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	1896.92	193	chr3	195779374	.	C	A,T	1896.92	.	AC=1,1;AF=0.042,0.042;AN=24;BaseQRankSum=-3.165e+00;DP=3512;ExcessHet=0.1639;FS=4.062;InbreedingCoeff=0.2768;MLEAC=2,2;MLEAF=0.083,0.083;MQ=57.65;MQRankSum=-1.405e+01;QD=3.82;ReadPosRankSum=2.94;SOR=1.060	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:200,18,0:218:99:0|1:195779356_C_G:154,0,8344,756,8398,9154:195779356	10	0	1	9
chr3	195779396	195779396	C	T	exonic	MUC4	.	nonsynonymous SNV	MUC4:NM_018406:exon2:c.G12184A:p.A4062T,	.	.	721	773	10	13	5	41	0.022756	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.005	B	0.0	B	.	.	1.000	P	0.55	N	1.1	T	-1.022	T	0.049	T	0.041	-1.082	0.160	.	-0.417	-0.026	2.145	0.018	.	.	0.00658946	0.0004	0.0016	0	0.0122	0	0.0006	0	0	0.0087214	227	26028	rs1045994646	0.0023	0.0034	0.0020	0.0026	0.0070	0.0022	0.0021	0.0059	0.0057	0.0012	0.0023	0.0127	0.0070	0.0009	0.0018	0.0015	0.0033	0.0065	0.0005	0.0066	0.0005	0.0006	0.0018	0.0004	0.0003	0.0005	0.0003	0.0004	0	0.0002	0.0010	0	0.0010	0	0.0006	0	0.0018	0.381	0.11156	T	0.32	0.19421	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	P	.	.	.	1.09	0.39223	T	0.15	0.05310	N	0.027	0.01911	-1.0217	0.23162	T	0.049	0.20947	T	6	0.004883051	0.00104	T	.	.	.	0.018	0.03083	.	.	0.0138822411134	0.00435	8.859181890935445E-4	0.00081	.	.	0.561056256294	0.47417	T	.	.	.	-0.33961	0.05414	T	-0.725603	0.04530	T	0.00650792362145855	0.00073	T	0.644935	0.25655	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.072	0.04356	B	.;.	.;.	-0.182403	0.03181	0.522	0.11935079734247947	0.00193	0.00048	0.00378	N	AEFBI	0.042374	0.06568	N	-1.28913511390244	0.03805	0.1706414	-1.40577124198539	0.03194	0.1484848	1.87232314028135E-5	0.02871	0.428477	0.06694	0	0.547309	0.14657	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	.	.	.	-0.704000	0.05160	-4.490000	0.02130	-1.810000	0.00613	0.000000	0.06391	0.000000	0.08366	0.017000	0.10941	0.0:0.3304:0.3444:0.3251	2.145	0.03553	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	0.1364	1870.85	193	chr3	195779396	.	C	T	1870.85	.	AC=3;AF=0.136;AN=22;BaseQRankSum=-2.859e+00;DP=3676;ExcessHet=0.5115;FS=4.062;InbreedingCoeff=0.1600;MLEAC=5;MLEAF=0.227;MQ=57.91;MQRankSum=-1.311e+01;QD=2.58;ReadPosRankSum=3.40;SOR=1.058	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:219,18:237:97:0|1:195779356_C_G:97,0,9036:195779356	8	0	3	10
chr3	195779400	195779400	A	0	exonic	MUC4	.	.	.	.	.	692	592	97	123	18	361	0.224623	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3929	159.86	193	chr3	195779400	.	A	T,*	159.86	.	AC=2,9;AF=0.071,0.321;AN=28;BaseQRankSum=-3.875e+00;DP=4316;ExcessHet=1.5306;FS=0.000;InbreedingCoeff=0.0793;MLEAC=3,12;MLEAF=0.107,0.429;MQ=58.96;MQRankSum=-1.218e+01;QD=0.07;ReadPosRankSum=3.26;SOR=0.690	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:215,18,0:233:99:0|1:195779356_C_G:109,0,8777,756,8831,9587:195779356	5	0	2	7
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	1/1:0,229,0:231:99:.:.:7442,685,0,7443,685,7443	0	7	0	8
chr3	195780043	195780043	G	0	exonic	MUC4	.	.	.	.	.	6	91	2	1	126	130	0.0215054	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3929	3773.39	467	chr3	195780043	.	G	A,*	3773.39	.	AC=1,10;AF=0.036,0.357;AN=28;DP=6744;ExcessHet=0.5777;FS=0.000;InbreedingCoeff=-0.0638;MLEAC=1,13;MLEAF=0.036,0.464;MQ=57.07;QD=1.27;SOR=0.694	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:381,0,165:547:99:0|1:195780042_AGGGATGGTGACAGGAAGAGGGGTGGCGTGACCTGTGGATGCTGAGGAAGCGTCGGTGACAGGAAGAGGGG_A:2759,3770,20201,0,15401,14789:195780042	5	0	1	7
chr3	195780046	195780046	A	0	exonic	MUC4	.	.	.	.	.	13	85	2	1	125	129	0.0229885	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3929	3773.39	467	chr3	195780046	.	A	C,*	3773.39	.	AC=1,10;AF=0.036,0.357;AN=28;DP=6719;ExcessHet=0.5777;FS=0.000;InbreedingCoeff=-0.0638;MLEAC=1,13;MLEAF=0.036,0.464;MQ=56.80;QD=1.27;SOR=0.694	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:381,0,165:547:99:0|1:195780042_AGGGATGGTGACAGGAAGAGGGGTGGCGTGACCTGTGGATGCTGAGGAAGCGTCGGTGACAGGAAGAGGGG_A:2759,3770,20201,0,15401,14789:195780042	5	0	1	7
chr3	195781134	195781134	A	0	exonic	MUC4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.35	33200.29	498	chr3	195781134	.	A	G,*	33200.29	.	AC=13,1;AF=0.325,0.025;AN=40;BaseQRankSum=6.18;DP=8525;ExcessHet=15.6281;FS=5.345;InbreedingCoeff=-0.5385;MLEAC=14,1;MLEAF=0.350,0.025;MQ=57.71;MQRankSum=-1.307e+01;QD=5.24;ReadPosRankSum=-7.680e-01;SOR=1.207	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:374,60,0:434:99:.:.:1271,0,15379,2431,15583,18218	6	0	13	1
chr3	195781149	195781154	GCTGGT	-	exonic	MUC4	.	nonframeshift deletion	MUC4:NM_018406:exon2:c.10426_10431del:p.T3476_S3477del	.	.	429	865	216	1	11	229	0.11191	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0145	0	0	0.0029	0	0	0	0.0351	3.84e-05	1	26028	.	0.0025	0.0021	0.0015	0.0035	0.0389	0.0024	0.0023	0.0375	0.0369	0.0001	4.844e-05	0	7.76e-05	5.404e-05	0.0012	0.0002	0.0034	0.0389	0.0031	0.0027	0.0012	0.0050	0.0817	0.0026	0.0025	0.0699	0.0654	0.0003	0	0	0	0	0	0	0.0002	0.0017	0.0817	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3421	3997.56	481	chr3	195781148	.	GGCTGGT	G,*	3997.56	.	AC=1,12;AF=0.026,0.316;AN=38;BaseQRankSum=5.06;DP=8191;ExcessHet=12.7758;FS=8.141;InbreedingCoeff=-0.5094;MLEAC=1,13;MLEAF=0.026,0.342;MQ=56.16;MQRankSum=-1.509e+01;QD=0.72;ReadPosRankSum=-2.317e+00;SOR=1.412	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:356,0,45:404:99:1|0:195781128_A_T:848,1905,14475,0,13136,14576:195781128	6	0	1	2
chr3	195781148	195781154	GGCTGGT	0	exonic	MUC4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3421	3997.56	481	chr3	195781148	.	GGCTGGT	G,*	3997.56	.	AC=1,12;AF=0.026,0.316;AN=38;BaseQRankSum=5.06;DP=8191;ExcessHet=12.7758;FS=8.141;InbreedingCoeff=-0.5094;MLEAC=1,13;MLEAF=0.026,0.342;MQ=56.16;MQRankSum=-1.509e+01;QD=0.72;ReadPosRankSum=-2.317e+00;SOR=1.412	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:356,0,45:404:99:1|0:195781128_A_T:848,1905,14475,0,13136,14576:195781128	6	0	1	2
chr3	195781150	195781150	C	0	exonic	MUC4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.325	17655.6	472	chr3	195781150	.	C	CAT,*	17655.6	.	AC=12,1;AF=0.300,0.025;AN=40;BaseQRankSum=6.87;DP=8110;ExcessHet=11.8493;FS=8.427;InbreedingCoeff=-0.4911;MLEAC=13,1;MLEAF=0.325,0.025;MQ=57.14;MQRankSum=-1.618e+01;QD=3.26;ReadPosRankSum=-2.268e+00;SOR=1.431	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:364,41,0:407:99:.:.:626,0,15106,1722,15212,16931	7	0	12	1
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	0/1:353,0,0:353:99:3340,0,13785,2444,14259,16896	7	0	12	1
chr3	195781535	195781582	CGGTGACAGGCACAGGGGTGGTGTCACCTGTGGATGCTGAGGAAGGGC	-	exonic	MUC4	.	nonframeshift deletion	MUC4:NM_018406:exon2:c.9998_10045del:p.S3333_D3349delinsN	.	.	432	1084	3	0	3	6	0.00138185	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0010	0.0005	0	0.0037	0	0.0017	0	0.0003	.	.	.	rs773375978	4.072e-05	0.0059	4.243e-05	3.896e-05	0.0003	3.176e-05	2.88e-05	2.611e-05	2.317e-05	0	3.061e-05	0.0002	9.239e-05	0.0001	0.0003	3.566e-05	5.609e-05	0	0.0005	0.0035	0.0005	0.0005	0.0015	0.0004	0.0004	0.0007	0.0005	0.0002	0	0.0008	0.0009	0.0015	0.0006	0	0.0005	0.0016	0.0005	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.125	5407.27	461	chr3	195781534	.	TCGGTGACAGGCACAGGGGTGGTGTCACCTGTGGATGCTGAGGAAGGGC	T	5407.27	.	AC=5;AF=0.125;AN=40;BaseQRankSum=3.69;DP=9800;ExcessHet=1.2264;FS=4.369;InbreedingCoeff=-0.1429;MLEAC=5;MLEAF=0.125;MQ=56.16;MQRankSum=-7.992e+00;QD=1.81;ReadPosRankSum=-4.233e+00;SOR=1.312	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:694,58:752:99:0|1:195781522_A_G:254,0,28730:195781522	15	0	5	1
chr3	195781543	195781543	G	A	exonic	MUC4	.	nonsynonymous SNV	MUC4:NM_018406:exon2:c.C10037T:p.P3346L	.	.	434	1074	8	0	6	14	0.00371058	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.999	D	0.972	D	.	.	0.977	N	0.55	N	1.53	T	-1.037	T	0.086	T	0.191	0.535	6.897	1.03	0.494	0.798	7.588	0.036	.	.	0.00698882	0.0008	0	0	0	0	0.0008	0	0.0012	0.0013447	35	26028	rs879761890	4.884e-05	0.0007	4.984e-05	4.781e-05	0.0004	3.831e-05	3.503e-05	0.0002	0.0002	0.0002	0	0.0001	0.0004	0	0	2.839e-05	0.0002	4.234e-05	0.0002	0.0010	0.0002	0.0002	0.0003	0.0002	0.0001	0.0002	0.0001	0.0003	0.0011	0.0001	0.0009	0	0	0	0.0002	0	0.0002	0.665	0.31383	T	0.122	0.35840	T	.	.	.	.	.	.	.	.	.	.	1	0.25345	N	.	.	.	1.47	0.31987	T	-1.13	0.29933	N	0.131	0.12627	-1.0370	0.18233	T	0.086	0.33522	T	8	0.0051679015	0.00112	T	.	.	.	0.036	0.09122	.	.	0.218845423259	0.21516	0.0020738489350019015	0.00192	.	.	0.483528077602	0.36542	T	.	.	.	-0.243883	0.14857	T	-0.588097	0.13831	T	0.0705799747923548	0.08732	T	0.69863	0.30863	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.101	0.17657	B	.;.	.;.	1.897897	0.24102	16.27	0.74117152090629812	0.10576	0.00893	0.03509	N	AEFBI	0.071891	0.14328	N	-0.569821765808249	0.19867	1.043086	-0.822359589483566	0.13954	0.726643	3.68951057704334E-5	0.03775	0.554377	0.28877	0	0.547309	0.14657	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	1.03	1.03	0.19161	0.680000	0.24986	0.730000	0.21079	0.093000	0.17603	0.024000	0.20007	0.004000	0.18990	0.012000	0.09680	0.0:0.0:1.0:0.0	7.588	0.27174	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	0.1579	471.15	461	chr3	195781543	.	G	A,*	471.15	.	AC=1,5;AF=0.026,0.132;AN=38;BaseQRankSum=4.39;DP=9702;ExcessHet=1.8958;FS=7.620;InbreedingCoeff=-0.1940;MLEAC=1,5;MLEAF=0.026,0.132;MQ=59.22;MQRankSum=-1.633e+01;QD=0.13;ReadPosRankSum=-4.132e+00;SOR=1.560	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:694,0,58:752:99:0|1:195781522_A_G:254,2342,31247,0,28904,28730:195781522	13	0	1	2
chr3	195781543	195781543	G	0	exonic	MUC4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1579	471.15	461	chr3	195781543	.	G	A,*	471.15	.	AC=1,5;AF=0.026,0.132;AN=38;BaseQRankSum=4.39;DP=9702;ExcessHet=1.8958;FS=7.620;InbreedingCoeff=-0.1940;MLEAC=1,5;MLEAF=0.026,0.132;MQ=59.22;MQRankSum=-1.633e+01;QD=0.13;ReadPosRankSum=-4.132e+00;SOR=1.560	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:694,0,58:752:99:0|1:195781522_A_G:254,2342,31247,0,28904,28730:195781522	13	0	1	2
chr3	195781545	195781545	C	0	exonic	MUC4	.	.	.	.	.	447	984	72	8	11	99	0.0428016	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1842	214.85	461	chr3	195781545	.	C	*,A	214.85	.	AC=5,2;AF=0.132,0.053;AN=38;BaseQRankSum=0.229;DP=9525;ExcessHet=2.7391;FS=7.747;InbreedingCoeff=-0.2163;MLEAC=5,1;MLEAF=0.132,0.026;MQ=58.15;MQRankSum=-1.237e+01;QD=0.06;ReadPosRankSum=-2.465e+00;SOR=1.629	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:694,58,0:752:99:0|1:195781522_A_G:254,0,28730,2342,28904,31247:195781522	12	0	5	2
chr3	195781547	195781547	C	0	exonic	MUC4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1944	199.21	461	chr3	195781547	.	C	G,*	199.21	.	AC=2,5;AF=0.056,0.139;AN=36;BaseQRankSum=-4.040e-01;DP=9369;ExcessHet=2.7391;FS=9.360;InbreedingCoeff=-0.2500;MLEAC=2,6;MLEAF=0.056,0.167;MQ=57.24;MQRankSum=-1.314e+01;QD=0.06;ReadPosRankSum=-4.481e+00;SOR=1.583	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:694,0,58:752:99:0|1:195781522_A_G:254,2342,31247,0,28904,28730:195781522	11	0	2	3
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	0/1:470,71,54:595:99:.:.:1434,0,20714,791,17403,22641	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	0/2:470,0,71:595:99:.:.:1434,3136,24486,0,20447,20714	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	0/1:470,71,0:595:99:.:.:1434,0,20714,3136,20447,24486	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	0/1:470,71,0:595:99:.:.:1434,0,20714,3136,20447,24486	6	1	10	3
chr3	195781581	195781581	G	0	exonic	MUC4	.	.	.	.	.	457	734	318	1	12	332	0.178971	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	3967.27	556	chr3	195781581	.	G	T,*	3967.27	.	AC=1,9;AF=0.033,0.300;AN=30;BaseQRankSum=4.80;DP=9779;ExcessHet=6.9875;FS=11.398;InbreedingCoeff=-0.4055;MLEAC=1,11;MLEAF=0.033,0.367;MQ=55.48;MQRankSum=-3.960e-01;QD=0.82;ReadPosRankSum=-7.208e+00;SOR=1.457	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:470,0,71:595:99:.:.:1434,3136,24486,0,20447,20714	5	0	1	6
chr3	195781583	195781583	T	0	exonic	MUC4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	13584.69	556	chr3	195781583	.	T	*,TGGTGACATGAAGAGGGGTGGCGTGACCTGTGGATGCTGAGGAAGTGTC,TC	13584.69	.	AC=8,2,1;AF=0.267,0.067,0.033;AN=30;BaseQRankSum=5.10;DP=9593;ExcessHet=2.8258;FS=8.879;InbreedingCoeff=-0.2455;MLEAC=10,2,1;MLEAF=0.333,0.067,0.033;MQ=56.45;MQRankSum=-1.210e-01;QD=3.10;ReadPosRankSum=-1.456e+00;SOR=1.309	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:470,71,0,0:595:99:.:.:1434,0,20714,3136,20447,24486,3136,20447,24486,24486	5	0	7	6
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|1:407,71,41,0:519:99:0|1:195781522_A_G:1697,0,16872,1262,15409,18464,2948,17101,18478,20143:195781522	5	0	9	4
chr3	195781605	195781605	G	0	exonic	MUC4	.	.	.	.	.	455	789	2	0	276	278	0.00126582	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2941	635.74	381	chr3	195781605	.	G	*,C	635.74	.	AC=10,1;AF=0.294,0.029;AN=34;BaseQRankSum=5.00;DP=8538;ExcessHet=2.5338;FS=10.499;InbreedingCoeff=-0.2218;MLEAC=12,1;MLEAF=0.353,0.029;MQ=54.42;MQRankSum=-3.177e+00;QD=0.16;ReadPosRankSum=-4.833e+00;SOR=1.436	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:402,71,28:501:99:0|1:195781522_A_G:1711,0,16587,1781,15602,18734:195781522	7	0	9	4
chr3	195781605	195781605	G	C	exonic	MUC4	.	nonsynonymous SNV	MUC4:NM_018406:exon2:c.C9975G:p.H3325Q,	.	.	455	789	2	0	276	278	0.00126582	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.029	B	0.0	B	.	.	1.000	N	0	N	1.64	T	-0.994	T	0.028	T	0.045	0.133	4.714	-1.18	0.494	-0.453	3.491	0.026	0.000701924505054	.	.	0.0038	0.0092	0.0027	0.0065	0.0074	0.0033	0.0060	0.0021	0.0005757	89	154602	rs368202391	0.0002	0.0009	0.0002	0.0002	0.0019	0.0002	0.0002	0.0012	0.0009	0.0005	0.0002	0.0001	0.0019	0.0010	0.0008	0.0002	0.0002	0.0007	0.0015	0.0080	0.0013	0.0018	0.0040	0.0013	0.0013	0.0022	0.0017	0.0008	0	0.0024	0.0027	0.0040	0.0035	0	0.0012	0.0025	0.0038	0.359	0.11957	T	0.549	0.09457	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.64	0.28002	T	-0.58	0.20358	N	0.126	0.14054	-0.9936	0.31670	T	0.028	0.12103	T	8	0.0067867637	0.00154	T	7.02E-4	0.00435	T	0.026	0.05648	0.259	0.20159	0.0138822411134	0.00435	0.0013358041139753607	0.00123	.	.	0.487636059523	0.37111	T	.	.	.	-0.38784	0.02778	T	-0.794882	0.02034	T	0.00525087148980338	0.00057	T	0.549445	0.18903	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.119	0.24566	B	.;.	.;.	0.541304	0.09098	5.882	0.71700136203587272	0.09718	0.00069	0.00489	N	AEFBI	0.058666	0.11023	N	-1.28472862471283	0.03858	0.1731374	-1.36847136025834	0.03593	0.1679022	1.34692826708022E-5	0.02871	0.554377	0.28877	0	0.547309	0.14657	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	1.03	-1.18	0.09122	-0.199000	0.09493	-3.178000	0.02995	-1.076000	0.01581	0.004000	0.16614	0.000000	0.08366	0.003000	0.05239	0.0:0.0:0.5572:0.4428	3.491	0.07201	601	0.67921	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2941	635.74	381	chr3	195781605	.	G	*,C	635.74	.	AC=10,1;AF=0.294,0.029;AN=34;BaseQRankSum=5.00;DP=8538;ExcessHet=2.5338;FS=10.499;InbreedingCoeff=-0.2218;MLEAC=12,1;MLEAF=0.353,0.029;MQ=54.42;MQRankSum=-3.177e+00;QD=0.16;ReadPosRankSum=-4.833e+00;SOR=1.436	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:402,71,28:501:99:0|1:195781522_A_G:1711,0,16587,1781,15602,18734:195781522	7	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	0/2:243,71,155:469:99:.:.:5718,3389,14396,0,7105,9468	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|1:190,232,10:432:99:0|1:195781522_A_G:8809,0,7149,9055,7488,17959:195781522	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|2:196,6,232:434:99:0|1:195781522_A_G:8780,9175,17784,0,7821,7488:195781522	0	3	3	1
chr3	195781789	195781789	G	C	exonic	MUC4	.	nonsynonymous SNV	MUC4:NM_018406:exon2:c.C9791G:p.S3264C	.	.	.	.	.	.	.	.	.	.	.	2825223	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	.	.	0.994	D	0.962	D	.	.	1.000	N	0.345	N	1.35	T	-1.046	T	0.089	T	0.101	0.205	5.105	1.03	0.494	0.294	5.394	0.028	.	.	.	0.0028	0.0335	0.0047	0	0	0.0003	0	0.0002	.	.	.	rs1260213383	0.0004	0.0009	0.0004	0.0003	0.0075	0.0003	0.0003	0.0066	0.0062	0.0075	0.0006	0.0003	9.515e-05	0	0.0026	0.0001	0.0009	1.93e-05	0.0011	0.0056	0.0013	0.0010	0.0037	0.0010	0.0009	0.0031	0.0028	0.0037	0	0.0008	0.0006	0	0	0	0.0001	0.0018	0	0.036	0.43393	D	0.003	0.76473	D	.	.	.	.	.	.	.	.	.	.	1	0.20152	N	.	.	.	1.35	0.35960	T	-0.52	0.20358	N	0.058	0.03392	-1.0464	0.15418	T	0.089	0.34325	T	8	0.0056270957	0.00125	T	.	.	.	0.028	0.06331	0.229	0.15556	0.0297737177859	0.01360	0.001013548136499485	0.00093	.	.	0.469768941402	0.34648	T	.	.	.	-0.293953	0.09243	T	-0.660019	0.08265	T	0.0111137903727331	0.00162	T	0.822818	0.48291	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.227	0.45918	B	.;.	.;.	1.908544	0.24238	16.32	0.59381222538087186	0.06211	0.00993	0.03770	N	AEFBI	0.089943	0.18228	N	-0.609396956545462	0.18661	0.9706224	-0.852740611599318	0.13221	0.6847116	1.65442328437548E-5	0.02871	0.554377	0.28877	0	0.547309	0.14657	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	1.03	1.03	0.19161	-0.438000	0.06975	0.729000	0.21072	0.093000	0.17603	0.000000	0.06391	0.001000	0.17328	0.005000	0.06747	0.0:0.0:1.0:0.0	5.394	0.15560	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	0.35	154.67	235	chr3	195781789	.	G	C,*	154.67	.	AC=1,13;AF=0.025,0.325;AN=40;BaseQRankSum=-1.930e+00;DP=3748;ExcessHet=15.6281;FS=2.437;InbreedingCoeff=-0.5385;MLEAC=1,14;MLEAF=0.025,0.350;MQ=46.98;MQRankSum=-3.240e+00;QD=0.05;ReadPosRankSum=-3.910e-01;SOR=0.534	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:159,0,111:270:99:.:.:1846,2328,8743,0,6415,6183	6	0	1	1
chr3	195781789	195781789	G	0	exonic	MUC4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.35	154.67	235	chr3	195781789	.	G	C,*	154.67	.	AC=1,13;AF=0.025,0.325;AN=40;BaseQRankSum=-1.930e+00;DP=3748;ExcessHet=15.6281;FS=2.437;InbreedingCoeff=-0.5385;MLEAC=1,14;MLEAF=0.025,0.350;MQ=46.98;MQRankSum=-3.240e+00;QD=0.05;ReadPosRankSum=-3.910e-01;SOR=0.534	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:159,0,111:270:99:.:.:1846,2328,8743,0,6415,6183	6	0	1	1
chr3	195781790	195781790	A	0	exonic	MUC4	.	.	.	.	.	585	525	41	5	366	417	0.0463215	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3684	155.03	235	chr3	195781790	.	A	G,*	155.03	.	AC=1,13;AF=0.026,0.342;AN=38;BaseQRankSum=-5.110e-01;DP=3742;ExcessHet=15.6281;FS=2.437;InbreedingCoeff=-0.5686;MLEAC=1,14;MLEAF=0.026,0.368;MQ=46.98;MQRankSum=-3.240e+00;QD=0.05;ReadPosRankSum=-5.390e-01;SOR=0.534	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:159,0,111:270:99:.:.:1846,2328,8743,0,6415,6183	5	0	1	2
chr3	195781809	195781809	T	0	exonic	MUC4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3684	98.03	235	chr3	195781809	.	T	A,*	98.03	.	AC=1,13;AF=0.026,0.342;AN=38;BaseQRankSum=1.65;DP=3716;ExcessHet=15.6281;FS=2.437;InbreedingCoeff=-0.5686;MLEAC=1,14;MLEAF=0.026,0.368;MQ=39.50;MQRankSum=-7.910e-01;QD=0.03;ReadPosRankSum=-1.770e+00;SOR=0.526	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:159,0,111:270:99:.:.:1846,2328,8743,0,6415,6183	5	0	1	2
chr3	195781829	195781829	C	0	exonic	MUC4	.	.	.	.	.	519	603	37	10	353	410	0.0451306	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.35	1756.67	235	chr3	195781829	.	C	T,*	1756.67	.	AC=1,13;AF=0.025,0.325;AN=40;BaseQRankSum=-5.383e+00;DP=3592;ExcessHet=15.6281;FS=2.445;InbreedingCoeff=-0.5385;MLEAC=1,14;MLEAF=0.025,0.350;MQ=41.70;MQRankSum=-4.776e+00;QD=0.57;ReadPosRankSum=1.90;SOR=0.524	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:159,0,111:270:99:.:.:1846,2328,8743,0,6415,6183	6	0	1	1
chr3	195783008	195783008	A	0	exonic	MUC4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2857	8929.47	518	chr3	195783008	.	A	G,*	8929.47	.	AC=3,5;AF=0.107,0.179;AN=28;BaseQRankSum=-9.100e-01;DP=10671;ExcessHet=3.7745;FS=0.000;InbreedingCoeff=-0.3793;MLEAC=4,6;MLEAF=0.143,0.214;MQ=56.37;MQRankSum=-4.251e+00;QD=2.12;ReadPosRankSum=0.842;SOR=0.660	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:573,0,104:677:99:.:.:314,2033,24760,0,22727,22430	6	0	3	7
chr3	195783009	195783009	C	0	exonic	MUC4	.	.	.	.	.	474	974	47	0	27	74	0.0235589	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2857	8931.46	521	chr3	195783009	.	C	*,T	8931.46	.	AC=5,3;AF=0.179,0.107;AN=28;BaseQRankSum=-4.990e-01;DP=10668;ExcessHet=3.7745;FS=0.000;InbreedingCoeff=-0.3793;MLEAC=7,4;MLEAF=0.250,0.143;MQ=56.37;MQRankSum=-4.434e+00;QD=2.12;ReadPosRankSum=1.05;SOR=0.659	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:573,104,0:677:99:.:.:314,0,22430,2033,22727,24760	6	0	5	7
chr3	195783015	195783015	G	0	exonic	MUC4	.	.	.	.	.	1	211	4	0	10	14	0.00938967	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1364	1248.83	612	chr3	195783015	.	G	*,C	1248.83	.	AC=2,1;AF=0.091,0.045;AN=22;BaseQRankSum=-6.830e-01;DP=10246;ExcessHet=0.3672;FS=2.211;InbreedingCoeff=-0.1458;MLEAC=3,2;MLEAF=0.136,0.091;MQ=55.31;MQRankSum=3.39;QD=0.83;ReadPosRankSum=2.96;SOR=0.765	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:573,104,0:677:99:.:.:314,0,22430,2033,22727,24760	8	0	2	10
chr3	195783018	195783020	AGC	0	exonic	MUC4	.	.	.	.	.	441	1022	49	0	10	59	0.0234114	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0625	2034.02	612	chr3	195783018	.	AGC	*,A	2034.02	.	AC=1,1;AF=0.031,0.031;AN=32;BaseQRankSum=5.41;DP=9542;ExcessHet=0.1190;FS=2.100;InbreedingCoeff=0.0402;MLEAC=1,1;MLEAF=0.031,0.031;MQ=55.31;MQRankSum=1.16;QD=1.36;ReadPosRankSum=0.612;SOR=0.786	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:573,104,0:677:99:.:.:314,0,22430,2033,22727,24760	14	0	1	5
chr3	195783019	195783020	GC	-	exonic	MUC4	.	frameshift deletion	MUC4:NM_018406:exon2:c.8560_8561del:p.A2854Ffs*55	.	.	441	1022	49	0	10	59	0.0234114	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0036	0.0005	0	0	0.0102	0.0045	0	0.0025	0.0001537	4	26028	rs1454491239	0.0052	0.0051	0.0051	0.0053	0.0058	0.0051	0.0051	0.0047	0.0046	0.0010	0.0054	0.0039	0.0042	0.0203	0.0058	0.0047	0.0060	0.0047	0.0045	0.0053	0.0041	0.0050	0.0067	0.0042	0.0041	0.0055	0.0051	0.0009	0	0.0067	0.0031	0.0018	0.0082	0	0.0058	0.0050	0.0048	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0625	2034.02	612	chr3	195783018	.	AGC	*,A	2034.02	.	AC=1,1;AF=0.031,0.031;AN=32;BaseQRankSum=5.41;DP=9542;ExcessHet=0.1190;FS=2.100;InbreedingCoeff=0.0402;MLEAC=1,1;MLEAF=0.031,0.031;MQ=55.31;MQRankSum=1.16;QD=1.36;ReadPosRankSum=0.612;SOR=0.786	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:573,104,0:677:99:.:.:314,0,22430,2033,22727,24760	14	0	1	5
chr3	195783022	195783116	TCGGTGACAGGAAGAGGGGTGGTGTGACCTGAGGATGCTGAGGAAGGGATGGTGACAGGAAGAGAGGTGGCATGACCTGTGAACACTGAGGAAGC	0	exonic	MUC4	.	.	.	.	.	440	1025	47	0	10	57	0.022413	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0625	1782.02	612	chr3	195783022	.	TCGGTGACAGGAAGAGGGGTGGTGTGACCTGAGGATGCTGAGGAAGGGATGGTGACAGGAAGAGAGGTGGCATGACCTGTGAACACTGAGGAAGC	*,T	1782.02	.	AC=1,1;AF=0.031,0.031;AN=32;BaseQRankSum=3.08;DP=9820;ExcessHet=0.1190;FS=2.100;InbreedingCoeff=0.0402;MLEAC=1,1;MLEAF=0.031,0.031;MQ=56.45;MQRankSum=-3.280e-01;QD=1.02;ReadPosRankSum=0.492;SOR=0.737	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:573,104,0:677:99:.:.:314,0,22430,2033,22727,24760	14	0	1	5
chr3	195783023	195783116	CGGTGACAGGAAGAGGGGTGGTGTGACCTGAGGATGCTGAGGAAGGGATGGTGACAGGAAGAGAGGTGGCATGACCTGTGAACACTGAGGAAGC	-	exonic	MUC4	.	frameshift deletion	MUC4:NM_018406:exon2:c.8464_8557del:p.A2822Tfs*151,	.	.	440	1025	47	0	10	57	0.022413	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0039	0.0005	0	0	0.0102	0.0050	0	0.0026	0.0001537	4	26028	.	0.0035	0.0047	0.0034	0.0035	0.0043	0.0034	0.0033	0.0034	0.0032	0.0007	0.0040	0.0026	0.0026	0.0139	0.0043	0.0031	0.0044	0.0027	0.0040	0.0049	0.0036	0.0045	0.0060	0.0037	0.0036	0.0049	0.0045	0.0009	0	0.0060	0.0028	0.0010	0.0086	0	0.0049	0.0047	0.0038	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0625	1782.02	612	chr3	195783022	.	TCGGTGACAGGAAGAGGGGTGGTGTGACCTGAGGATGCTGAGGAAGGGATGGTGACAGGAAGAGAGGTGGCATGACCTGTGAACACTGAGGAAGC	*,T	1782.02	.	AC=1,1;AF=0.031,0.031;AN=32;BaseQRankSum=3.08;DP=9820;ExcessHet=0.1190;FS=2.100;InbreedingCoeff=0.0402;MLEAC=1,1;MLEAF=0.031,0.031;MQ=56.45;MQRankSum=-3.280e-01;QD=1.02;ReadPosRankSum=0.492;SOR=0.737	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:573,104,0:677:99:.:.:314,0,22430,2033,22727,24760	14	0	1	5
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|1:172,184,104:460:99:0|1:195783084_A_*:6875,0,6295,5448,4950,12765:195783084	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|1:167,181,104:452:99:0|1:195783084_A_*:6792,0,6246,5318,4883,12356:195783084	3	2	9	5
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|1:224,124,0:348:99:0|1:195783861_G_A:4484,0,9020,5283,9510,15439:195783861	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|1:247,124,0:371:99:0|1:195783861_G_A:4431,0,9971,5430,10593,17335:195783861	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	1/2:127,124,126,0,0:377:47:.:.:8030,47,5533,70,0,4752,8498,6196,5475,14729,8498,6196,5475,14729,14729	1	1	9	3
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|1:325,141,0:466:99:0|1:195783891_G_A:4929,0,13134,5916,13575,19560:195783891	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|1:326,146,0:472:99:0|1:195783891_G_A:5136,0,13173,6119,13622,19773:195783891	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|1:196,176,0:372:99:0|1:195784652_C_G:6684,0,7595,7274,8125,15399:195784652	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|1:204,179,0:383:99:0|1:195784652_C_G:6766,0,7842,7380,8381,15761:195784652	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	0/2:203,0,174:377:99:.:.:4304,4915,13334,0,8418,7899	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	0/1:182,283,0:465:99:.:.:9019,0,5727,9149,6776,17416	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	1/1:0,732,0:732:99:.:.:25651,2213,0,26189,2217,28622	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	1/1:1,710,0:711:99:.:.:25113,2142,0,26078,2180,28802	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|1:16,6,0:22:99:0|1:195787233_T_A:204,0,628,252,646,898:195787233	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|2:19,0,5:24:99:0|1:195787233_T_A:141,198,947,0,749,734:195787233	6	0	1	1
chr3	195787579	195787579	G	0	exonic	MUC4	.	.	.	.	.	46	100	18	19	43	99	0.21875	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5357	1237.73	147	chr3	195787579	.	G	A,*	1237.73	.	AC=2,13;AF=0.071,0.464;AN=28;DP=1766;ExcessHet=0.0393;FS=10.568;InbreedingCoeff=0.2243;MLEAC=3,17;MLEAF=0.107,0.607;MQ=51.08;QD=1.06;SOR=1.344	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:163,0,39:202:99:0|1:195787508_T_C:1147,1638,8479,0,6841,6723:195787508	4	1	0	7
chr3	195787584	195787584	A	0	exonic	MUC4	.	.	.	.	.	854	418	49	62	139	312	0.171457	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5769	923.51	147	chr3	195787584	.	A	G,*	923.51	.	AC=2,13;AF=0.077,0.500;AN=26;DP=1759;ExcessHet=0.0610;FS=9.265;InbreedingCoeff=0.2100;MLEAC=3,18;MLEAF=0.115,0.692;MQ=48.44;QD=0.79;SOR=1.346	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:163,0,39:202:99:0|1:195787508_T_C:1147,1638,8479,0,6841,6723:195787508	3	1	0	8
chr3	195787599	195787601	CAT	-	exonic	MUC4	.	nonframeshift deletion	MUC4:NM_018406:exon2:c.3979_3981del:p.M1327del	.	.	748	628	1	6	139	152	0.0102443	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1355836000	0.0028	0.0097	0.0026	0.0030	0.0064	0.0027	0.0026	0.0058	0.0056	0.0041	0.0014	0.0050	0.0059	0.0033	0.0007	0.0022	0.0031	0.0064	0	0.0003	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	291.59	147	chr3	195787598	.	GCAT	G,*	291.59	.	AC=2,13;AF=0.067,0.433;AN=30;DP=1745;ExcessHet=0.0261;FS=9.236;InbreedingCoeff=0.2448;MLEAC=2,17;MLEAF=0.067,0.567;MQ=43.03;QD=0.25;SOR=1.314	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:163,0,39:202:99:0|1:195787508_T_C:1147,1638,8479,0,6841,6723:195787508	5	1	0	6
chr3	195787598	195787601	GCAT	0	exonic	MUC4	.	.	.	.	.	748	628	1	6	139	152	0.0102443	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	291.59	147	chr3	195787598	.	GCAT	G,*	291.59	.	AC=2,13;AF=0.067,0.433;AN=30;DP=1745;ExcessHet=0.0261;FS=9.236;InbreedingCoeff=0.2448;MLEAC=2,17;MLEAF=0.067,0.567;MQ=43.03;QD=0.25;SOR=1.314	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:163,0,39:202:99:0|1:195787508_T_C:1147,1638,8479,0,6841,6723:195787508	5	1	0	6
chr3	195787858	195787905	GCTGCGGAAGGGATGGTTACAGGAAGAGAGGTGGCGTGATCTGTGGAC	-	exonic	MUC4	.	nonframeshift deletion	MUC4:NM_018406:exon2:c.3675_3722del:p.D1228_T1243del	.	.	845	542	82	39	14	174	0.128617	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001	0.0016	8.86e-05	0.0001	0.0002	8.685e-05	7.777e-05	7.503e-05	6.47e-05	0.0002	0.0001	0.0002	0.0001	0.0002	0	0.0001	0.0002	2.234e-05	0	0.0002	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3824	3048.65	24	chr3	195787857	.	TGCTGCGGAAGGGATGGTTACAGGAAGAGAGGTGGCGTGATCTGTGGAC	T,AGCTGCGGAAGGGATGGTTACAGGAAGAGAGGTGGCGTGATCTGTGGAC	3048.65	.	AC=2,12;AF=0.059,0.353;AN=34;BaseQRankSum=1.44;DP=324;ExcessHet=0.6984;FS=37.858;InbreedingCoeff=0.0268;MLEAC=2,14;MLEAF=0.059,0.412;MQ=36.04;MQRankSum=0.122;QD=17.13;ReadPosRankSum=0.506;SOR=4.512	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:13,0,3:16:87:0|1:195787857_T_A:87,126,672,0,546,537:195787857	6	0	1	4
chr3	195787858	195787858	G	A	exonic	MUC4	.	nonsynonymous SNV	MUC4:NM_018406:exon2:c.C3722T:p.A1241V	.	.	754	726	24	4	14	46	0.0215633	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.805	P	0.483	P	.	.	1.000	N	0.55	N	1.56	T	-1.063	T	0.045	T	0.178	0.458	6.489	.	-1.696	-0.727	5.179	0.057	0.00310099407166	.	.	0.0027	0.0060	0	0	0	0.0019	0	0.0043	2.59e-05	4	154602	rs200470030	0.0005	0.0029	0.0005	0.0004	0.0012	0.0004	0.0004	0.0005	0.0004	0.0006	0.0004	0.0005	0.0007	0.0004	0.0012	0.0004	0.0006	0.0004	0.0003	0.0014	0.0004	0.0002	0.0015	7.729e-05	4.082e-05	0.0003	0.0001	0	0	0.0015	0	0	0	0	0.0002	0	0	0.011	0.55530	D	0.075	0.42976	T	.	.	.	.	.	.	.	.	.	.	1	0.19694	N	.	.	.	1.56	0.29866	T	-0.13	0.08971	N	0.1	0.08227	-1.0627	0.11093	T	0.045	0.19152	T	7	0.004917234	0.00105	T	0.003101	0.06726	T	0.057	0.16321	0.128	0.03331	0.0138822411134	0.00435	5.679174612668311E-5	0.00004	.	.	0.449930310249	0.31934	T	.	.	.	-0.280489	0.10615	T	-0.64068	0.09619	T	0.0155058956420158	0.00350	T	0.634936	0.24909	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.098	0.16099	B	.;.	.;.	-0.403259	0.02200	0.219	0.97017531814541358	0.32010	0.00104	0.00666	N	AEFI	0.027497	0.02257	N	-1.45731490531687	0.02160	0.09506899	-1.67235334149452	0.01265	0.05701407	1.15719927465646E-5	0.02871	0.554377	0.28877	0	0.588066	0.40923	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	.	.	.	-1.222000	0.03074	-10.294000	0.00717	-1.958000	0.00478	0.001000	0.13787	0.000000	0.08366	0.003000	0.05239	0.2757:0.0:0.7243:0.0	5.179	0.14479	604	0.67577	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.1562	258.65	24	chr3	195787858	.	G	A,*	258.65	.	AC=2,3;AF=0.063,0.094;AN=32;BaseQRankSum=-1.668e+00;DP=327;ExcessHet=1.3000;FS=32.558;InbreedingCoeff=-0.1252;MLEAC=2,4;MLEAF=0.063,0.125;MQ=36.65;MQRankSum=-8.500e-02;QD=3.45;ReadPosRankSum=-4.920e-01;SOR=5.247	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:14,3,0:17:84:1|0:195787857_T_A:84,0,579,126,588,714:195787857	11	0	2	5
chr3	195787858	195787858	G	0	exonic	MUC4	.	.	.	.	.	754	726	24	4	14	46	0.0215633	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1562	258.65	24	chr3	195787858	.	G	A,*	258.65	.	AC=2,3;AF=0.063,0.094;AN=32;BaseQRankSum=-1.668e+00;DP=327;ExcessHet=1.3000;FS=32.558;InbreedingCoeff=-0.1252;MLEAC=2,4;MLEAF=0.063,0.125;MQ=36.65;MQRankSum=-8.500e-02;QD=3.45;ReadPosRankSum=-4.920e-01;SOR=5.247	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:14,3,0:17:84:1|0:195787857_T_A:84,0,579,126,588,714:195787857	11	0	2	5
chr3	195787862	195787862	C	0	exonic	MUC4	.	.	.	.	.	915	430	100	76	1	253	0.226619	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4667	2681.94	24	chr3	195787862	.	C	A,*	2681.94	.	AC=13,2;AF=0.433,0.067;AN=30;BaseQRankSum=-2.400e-01;DP=304;ExcessHet=0.3122;FS=39.025;InbreedingCoeff=0.0321;MLEAC=16,3;MLEAF=0.533,0.100;MQ=35.60;MQRankSum=-7.000e-02;QD=16.16;ReadPosRankSum=0.623;SOR=4.592	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:11,8,0:19:99:0|1:195787857_T_A:299,0,438,332,462,794:195787857	4	3	6	6
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|2:16,0,7:23:99:0|1:195787857_T_A:232,280,926,0,646,625:195787857	4	0	1	4
chr3	195788132	195788132	T	0	exonic	MUC4	.	.	.	.	.	595	698	124	3	102	232	0.08519	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3125	6578.57	769	chr3	195788132	.	T	C,*	6578.57	.	AC=7,3;AF=0.219,0.094;AN=32;BaseQRankSum=4.36;DP=5689;ExcessHet=7.5380;FS=5.019;InbreedingCoeff=-0.3295;MLEAC=9,4;MLEAF=0.281,0.125;MQ=54.21;MQRankSum=-8.605e+00;QD=1.86;ReadPosRankSum=1.06;SOR=1.121	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:178,35,0:213:99:0|1:195788077_G_A:899,0,7369,1435,7474,8909:195788077	6	0	7	5
chr3	195788146	195788146	A	0	exonic	MUC4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3077	5085.53	769	chr3	195788146	.	A	G,*	5085.53	.	AC=6,2;AF=0.231,0.077;AN=26;BaseQRankSum=5.31;DP=5652;ExcessHet=4.3158;FS=6.139;InbreedingCoeff=-0.2994;MLEAC=8,3;MLEAF=0.308,0.115;MQ=54.57;MQRankSum=-9.562e+00;QD=1.82;ReadPosRankSum=-6.330e-01;SOR=1.197	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:210,30,0:240:99:0|1:195788077_G_A:592,0,8728,1225,8818,10042:195788077	5	0	6	8
chr3	195788160	195788160	G	0	exonic	MUC4	.	.	.	.	.	491	837	111	0	83	194	0.0621849	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	3337.77	769	chr3	195788160	.	G	A,*	3337.77	.	AC=6,2;AF=0.188,0.063;AN=32;BaseQRankSum=4.67;DP=6056;ExcessHet=4.3158;FS=5.294;InbreedingCoeff=-0.2121;MLEAC=7,2;MLEAF=0.219,0.063;MQ=55.72;MQRankSum=-1.019e+01;QD=1.10;ReadPosRankSum=-3.087e+00;SOR=1.145	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:236,28,0:264:99:0|1:195788077_G_A:465,0,9825,1176,9910,11085:195788077	8	0	6	5
chr3	196886088	196886088	C	T	exonic	SENP5	.	nonsynonymous SNV	SENP5:NM_001308045:exon2:c.C907T:p.H303Y	.	.	430	1072	20	0	0	20	0.00924214	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.99	T	0.894	P	0.276	B	0.069	N	1.000	D	0.345	N	1.37	T	-1.071	T	0.029	T	0.262	2.086	12.93	4.49	1.381	2.003	11.261	0.055	.	0.0055	0.00239617	0.0057	0.0011	0.0029	0	0.0014	0.0086	0.0055	0.0036	0.005595	865	154602	rs151102982	0.0057	0.0057	0.0057	0.0058	0.0144	0.0056	0.0056	0.0119	0.0110	0.0010	0.0046	0.0344	2.519e-05	0.0021	0.0144	0.0057	0.0063	0.0035	0.0053	0.0053	0.0055	0.0050	0.0062	0.0050	0.0048	0.0058	0.0056	0.0011	0.0713	0.0053	0.0360	0	0.0018	0.0136	0.0062	0.0085	0.0041	0.042	0.44358	D	0.398	0.15746	T	0.167	0.28604	B	0.04	0.23831	B	0.068702	0.21654	N	0.432451	1	0.81001	D	1.61	0.41143	L	1.37	0.34253	T	-0.92	0.25551	N	0.309	0.34874	-1.0706	0.09282	T	0.029	0.12673	T	10	0.0035499334	0.00064	T	.	.	.	0.055	0.15663	.	.	0.147330786459	0.14319	0.07654943486015639	0.07590	0.21552537	0.24085	0.307926267385	0.11594	T	0.008107	0.07462	T	-0.476606	0.00775	T	-0.453663	0.27293	T	0.0100612664167618	0.00135	T	0.716128	0.32863	T	0.07624217	0.17231	0.07669731	0.17011	0.07624217	0.17231	0.07669731	0.17011	-4.136	0.25819	T	.	.	0.09	0.12607	B	.;.	.;.	2.062754	0.26225	17.04	0.99077901006632374	0.51882	0.51476	0.28904	D	AEFBCI	0.103206	0.20683	N	-0.368203577258762	0.26609	1.453498	-0.238555164470753	0.30168	1.696263	0.999997713252263	0.74766	0.722319	0.85440	0	0.698795	0.70079	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.37	4.49	0.54177	2.051000	0.40932	3.367000	0.37903	0.599000	0.40250	0.505000	0.26994	0.263000	0.23997	0.910000	0.44547	0.0:0.9096:0.0:0.0904	11.261	0.48315	600	0.68026	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	2048.98	33	chr3	196886088	.	C	T	2048.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.415e+00;DP=834;ExcessHet=0.0000;FS=2.211;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.18;ReadPosRankSum=0.479;SOR=0.505	GT:AD:DP:GQ:PL	0/1:59,76:135:99:2063,0,1650	20	0	1	0
chr4	60102	60102	A	G	exonic	ZNF595	.	nonsynonymous SNV	ZNF595:NM_182524:exon3:c.A175G:p.I59V,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	0.0	B	0.0	B	.	.	1.000	N	.	.	5.61	T	-0.926	T	0.003	T	0.035	0.590	7.184	0.681	0.549	0.232	.	0.039	0.00314259354943	.	.	0.0003	0.0031	0.0002	0	0	2.997e-05	0	0	.	.	.	rs1211858640	1.59e-05	3.98e-05	2.397e-05	8.63e-06	0.0005	6.61e-06	5.25e-06	0.0002	0.0001	0.0005	0	0	0	0	0	0	3.945e-05	0	0.0001	0.0004	0.0001	9.878e-05	0.0004	6.24e-05	5.064e-05	0.0002	0.0002	0.0004	0	0	0	0.0002	0	0	0	0	0	0.051	0.39334	T	0.198	0.46862	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	.	.	.	5.59	0.00834	T	0.27	0.04306	N	0.131	0.12627	-0.9262	0.44688	T	0.003	0.00929	T	7	0.010288149	0.00230	T	0.003143	0.06845	T	0.039	0.10176	.	.	0.0551355673512	0.04727	0.018109461160628844	0.01764	.	.	0.375459849834	0.21612	T	0.011459	0.10219	T	-0.386626	0.02828	T	-0.793138	0.02079	T	0.0108471274160358	0.00154	T	0.135686	0.01072	T	0.112428285	0.26562	0.17038237	0.39143	0.112428285	0.26561	0.17038237	0.39142	-3.444	0.15656	T	.	.	0.087	0.18663	B	.;.	.;.	0.456358	0.08259	5.005	0.80280555790844776	0.13129	0.01519	0.05013	N	AEFDBCI	0.032141	0.03572	N	-0.838718963461223	0.12329	0.6002975	-0.939436184053443	0.11169	0.5673672	0.999994706620072	0.74766	0.751926	0.98777	0	0.386843	0.06301	2	0.639134	0.45391	0	0.765956	0.99894	0	.	.	0.681	0.681	0.17152	-0.026000	0.12340	.	.	0.413000	0.20698	0.063000	0.21864	0.000000	0.08366	0.177000	0.21203	.	.	.	976	0.04745	Krueppel-associated box|Krueppel-associated box;Krueppel-associated box|Krueppel-associated 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	1	0	0	0	0.02381	1877.98	135	chr4	60102	.	A	G	1877.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.515;DP=2422;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=1.97;ReadPosRankSum=0.878;SOR=0.688	GT:AD:DP:GQ:PL	0/1:805,148:953:99:1892,0,22333	20	0	1	0
chr4	1841793	1841793	C	T	exonic	LETM1	.	nonsynonymous SNV	LETM1:NM_012318:exon3:c.G148A:p.V50I,	.	.	.	.	.	.	.	.	.	.	.	709258	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.39	T	0.004	B	0.006	B	0.623	N	1.000	N	1.59	L	.	.	-1.019	T	0.052	T	0.014	1.181	9.802	-1.36	-0.001	-0.127	2.760	0.003	.	0.0048	0.00459265	0.0016	0.0171	0.0007	0	0	1.865e-05	0	0	0.0011772	182	154602	rs116034211	0.0005	0.0005	0.0005	0.0004	0.0164	0.0004	0.0004	0.0152	0.0148	0.0164	0.0006	0	0	0	0.0012	4.414e-05	0.0008	1.162e-05	0.0044	0.0044	0.0043	0.0045	0.0155	0.0041	0.0040	0.0145	0.0142	0.0155	0	0.0014	0	0	0	0	0	0.0009	0.0002	0.119	0.28026	T	0.389	0.15554	T	0.0	0.02946	B	0.001	0.04355	B	0.623355	0.10756	N	0.819604	1	0.08975	N	0.74	0.18910	N	.	.	.	-0.28	0.11547	N	0.128	0.12198	-1.0189	0.24074	T	0.052	0.22037	T	9	0.0031474829	0.00053	T	.	.	.	0.003	0.00094	.	.	0.326074293725	0.32213	0.1616753322737165	0.16088	0.336783852735	0.35672	0.279425472021	0.07412	T	0.002041	0.01452	T	-0.668086	0.00056	T	-0.719462	0.04822	T	0.000831243842782092	0.00008	T	0.383762	0.09387	T	0.030250018	0.02655	0.03210785	0.01896	0.022462754	0.00911	0.030055009	0.01413	-4.358	0.28982	T	.	.	0.071	0.03964	B	.	.	0.066677	0.04760	1.382	0.86446427021772965	0.16541	0.05893	0.11843	N	AEFDBI	0.036474	0.04866	N	-1.14286078619419	0.05898	0.2701184	-1.20608993202707	0.05811	0.27796	0.997968120104015	0.36249	0.706298	0.61202	0	0.702456	0.74545	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	4.75	-1.36	0.08610	0.179000	0.16653	-2.869000	0.03278	-0.202000	0.08738	0.000000	0.06391	0.000000	0.08366	0.009000	0.08673	0.1109:0.431:0.1156:0.3425	2.760	0.04978	641	0.64016	.	.	.	.	.	.	Likely benign	0	0	0	0	0	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	323.98	33	chr4	1841793	.	C	T	323.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.688e+00;DP=772;ExcessHet=0.0000;FS=2.694;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.00;ReadPosRankSum=-6.360e-01;SOR=1.678	GT:AD:DP:GQ:PL	0/1:25,11:36:99:338,0,900	20	0	1	0
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	2/3:0,0,3,23,0,0,0:26:99:.:.:875,916,1112,779,902,953,106,251,0,284,916,1112,902,251,1112,916,1112,902,251,1112,1112,916,1112,902,251,1112,1112,1112	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	2/3:0,0,3,23,0,0,0:26:99:.:.:875,916,1112,779,902,953,106,251,0,284,916,1112,902,251,1112,916,1112,902,251,1112,1112,916,1112,902,251,1112,1112,1112	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	2/3:0,0,3,23,0,0,0:26:99:.:.:875,916,1112,779,902,953,106,251,0,284,916,1112,902,251,1112,916,1112,902,251,1112,1112,916,1112,902,251,1112,1112,1112	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	2/3:0,0,3,23,0,0,0:26:99:.:.:875,916,1112,779,902,953,106,251,0,284,916,1112,902,251,1112,916,1112,902,251,1112,1112,916,1112,902,251,1112,1112,1112	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	2/3:0,0,3,23,0,0,0:26:99:.:.:875,916,1112,779,902,953,106,251,0,284,916,1112,902,251,1112,916,1112,902,251,1112,1112,916,1112,902,251,1112,1112,1112	3	1	1	0
chr4	5618536	5618536	G	A	exonic	EVC2	.	nonsynonymous SNV	EVC2:NM_001166136:exon15:c.C2408T:p.A803V	Ellis-van Creveld syndrome, Autosomal recessive;Weyers acrofacial dysostosis, Autosomal dominant	.	1	1519	2	0	0	2	0.000657895	.	.	698563	not_provided|Curry-Hall_syndrome|Ellis-van_Creveld_syndrome|not_specified	MedGen:C3661900|MONDO:MONDO:0008673,MedGen:C0457013,OMIM:193530,Orphanet:952|MONDO:MONDO:0009162,MedGen:C0013903,OMIM:225500,Orphanet:289|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.21	T	0.97	D	0.265	B	0.000	D	1.000	N	0.695	N	-1.04	T	-0.822	T	0.168	T	0.311	2.833	15.44	4.37	2.488	1.943	9.876	0.228	.	0.0027	0.00179712	0.0040	0.0006	0.0008	0	0.0164	0.0049	0.0022	0.0019	0.0037322	577	154602	rs140951974	0.0034	0.0034	0.0034	0.0033	0.0033	0.0033	0.0032	0.0032	0.0031	0.0004	0.0011	0.0014	2.519e-05	0.0156	0	0.0033	0.0030	0.0021	0.0031	0.0031	0.0029	0.0034	0.0037	0.0029	0.0028	0.0033	0.0032	0.0008	0	0.0024	0.0012	0	0.0126	0	0.0037	0.0024	0.0019	0.02	0.49613	D	0.042	0.50226	D	0.97	0.56973	D	0.265	0.39681	B	0.000026	0.55875	D	0.070344	0.999998	0.08975	N	2.4	0.69460	M	-1.04	0.76561	T	-1.97	0.45587	N	0.424	0.46928	-0.8220	0.53809	T	0.168	0.50810	T	10	0.009963959	0.00223	T	.	.	.	0.228	0.52768	.	.	0.751584923666	0.74933	0.09146586134391581	0.09079	0.0858429565508	0.09703	0.393966376781	0.24227	T	0.07057	0.33993	T	-0.35005	0.04724	T	-0.274646	0.47349	T	0.03326945179004	0.02516	T	0.653735	0.26383	T	0.07926738	0.18099	0.106496006	0.25622	0.06676561	0.14395	0.10454909	0.25113	-4.807	0.34673	T	.	.	0.128	0.27222	B	.;.	.;.	2.819753	0.37142	20.4	0.9986761278234797	0.94547	0.16462	0.19400	N	AEFBI	0.099576	0.20041	N	-0.180453971305093	0.33949	1.932	-0.215210126344091	0.30989	1.749722	0.996215378126325	0.34598	0.615465	0.37627	0	0.588066	0.40923	0	0.658983	0.55881	0	0.635551	0.53088	0	.	.	5.3	4.37	0.51830	2.092000	0.41326	2.967000	0.35781	0.676000	0.76740	0.141000	0.23520	0.562000	0.25526	0.372000	0.26156	0.0:0.0:0.6587:0.3413	9.876	0.40373	934	0.15400	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.02381	871.98	34	chr4	5618536	.	G	A	871.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.162e+00;DP=776;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.18;ReadPosRankSum=0.761;SOR=0.708	GT:AD:DP:GQ:PL	0/1:41,37:78:99:886,0,1055	20	0	1	0
chr4	5752984	5752984	G	A	exonic	EVC	.	nonsynonymous SNV	EVC:NM_001306090:exon9:c.G1247A:p.R416Q	Ellis-van Creveld syndrome, Autosomal recessive;Weyers acrodental dysostosis, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	272096	Ellis-van_Creveld_syndrome|Curry-Hall_syndrome|not_provided	MONDO:MONDO:0009162,MedGen:C0013903,OMIM:225500,Orphanet:289|MONDO:MONDO:0008673,MedGen:C0457013,OMIM:193530,Orphanet:952|MedGen:CN517202	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.38	T	0.18	B	0.019	B	0.002	N	1.000	N	1.04	L	0.61	T	-1.067	T	0.077	T	0.088	1.788	11.94	1.29	-0.078	-0.056	2.443	0.040	0.00715693749466	.	.	9.363e-06	0	0	0	0	1.708e-05	0	0	6.5e-06	1	154602	rs745640537	6.844e-06	8.209e-06	6.809e-06	6.879e-06	8.961e-05	3.46e-06	2.52e-06	2.375e-05	1.258e-05	8.961e-05	0	0	0	0	0	4.497e-06	1.658e-05	1.16e-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	0.208	0.24564	T	0.171	0.30339	T	0.18	0.29046	B	0.019	0.18783	B	0.002222	0.36970	N	0.256670	0.999985	0.18198	N	0.625	0.15840	N	0.54	0.54911	T	-1.35	0.35399	N	0.128	0.12198	-1.0672	0.10039	T	0.077	0.30676	T	10	0.068280935	0.09633	T	0.007157	0.18979	T	0.040	0.10527	.	.	0.385743280973	0.38186	0.05149396031347612	0.05091	.	.	0.232880175114	0.02188	T	0.186774	0.54018	T	-0.264613	0.12364	T	-0.602389	0.12611	T	0.203258320689201	0.20594	T	0.813219	0.49484	T	0.060595926	0.12452	0.06178851	0.11986	0.060595926	0.12452	0.06178851	0.11985	-3.511	0.16586	T	0.1842624282864778	0.23892	0.070	0.07177	B	.;.	.;.	0.936298	0.13117	9.620	0.99410419013903617	0.63263	0.12415	0.17255	N	AEFDBCIJ	0.074811	0.15006	N	-0.817973342212896	0.12852	0.6291468	-0.817801985258196	0.14065	0.7329607	0.999953795466575	0.48110	0.538715	0.22204	0	0.577304	0.33150	0	0.338622	0.05889	2	0.563494	0.21769	0	.	.	5.32	1.29	0.20717	0.118000	0.15436	-0.897000	0.07005	0.676000	0.76740	0.000000	0.06391	0.000000	0.08366	0.493000	0.28859	0.1848:0.1435:0.5236:0.1481	2.443	0.04225	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	0.02381	789.98	34	chr4	5752984	.	G	A	789.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.700e-01;DP=866;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.26;ReadPosRankSum=-2.780e-01;SOR=0.749	GT:AD:DP:GQ:PL	0/1:44,33:77:99:804,0,1233	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	0/1:108,44:152:99:522,0,2594	0	0	21	0
chr4	7939481	7939481	C	T	exonic	LOC389199	.	nonsynonymous SNV	LOC389199:NM_203423:exon1:c.C316T:p.R106C,	.	.	434	1087	1	0	0	1	0.00045977	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	.	.	.	.	.	.	1.000	N	.	.	.	.	-0.970	T	0.096	T	0.121	0.831	8.351	0.393	0.263	0.480	3.857	0.049	0.00760539530555	.	.	.	.	.	.	.	.	.	.	.	.	.	rs767410134	7.334e-05	4.93e-05	5.041e-05	8.841e-05	0.0031	4.028e-05	3.169e-05	0.0005	0.0002	0	0	0	0	0	0.0031	6.62e-05	0	8.674e-05	5.262e-05	5.251e-05	2.574e-05	8.073e-05	0.0004	2.56e-05	1.832e-05	7.29e-05	3.029e-05	4.816e-05	0	6.542e-05	0	0	0	0	4.417e-05	0	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	0.02381	293.98	38	chr4	7939481	.	C	T	293.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.749;DP=732;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.65;ReadPosRankSum=-2.100e-01;SOR=0.646	GT:AD:DP:GQ:PL	0/1:20,14:34:99:308,0,434	20	0	1	0
chr4	9210768	9210768	C	G	exonic	USP17L10	.	nonsynonymous SNV	USP17L10:NM_001256852:exon1:c.C112G:p.P38A,	.	.	677	833	12	0	0	12	0.00715137	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	.	.	.	.	0.864	U	1.000	N	0.895	L	2.44	T	-0.971	T	0.036	T	0.156	0.353	5.915	0.337	0.444	1.378	.	0.045	0.0015459483867	.	.	.	.	.	.	.	.	.	.	.	.	.	rs754133272	0.0004	0.0014	0.0004	0.0004	0.0014	0.0003	0.0003	0.0003	0.0003	0.0004	0.0004	0.0010	0	0.0013	0.0014	0.0004	0.0004	0.0004	0	0.0009	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.048	0.41915	D	0.011	0.65728	D	.	.	.	.	.	.	0.864414	0.08871	U	0.896444	1	0.08975	N	2.115	0.58683	M	2.41	0.15492	T	-3.47	0.67824	D	0.205	0.23125	-0.9713	0.36925	T	0.036	0.15553	T	7	0.13079363	0.24892	T	0.001546	0.02420	T	0.045	0.12272	0.208	0.12497	0.110078149338	0.10416	0.020390398911889974	0.01992	.	.	0.469341129065	0.34589	T	0.062536	0.31943	T	-0.279078	0.10765	T	-0.638653	0.09767	T	0.200948345136473	0.20468	T	0.732227	0.34774	T	0.09496307	0.22339	0.15532763	0.36414	0.09496307	0.22339	0.15532763	0.36413	-3.727	0.19717	T	.	.	0.082	0.08705	B	.;.	.;.	0.587323	0.09560	6.333	0.75078402490821039	0.10937	0.01658	0.05317	N	AEFI	0.025428	0.01739	N	-0.724146622873609	0.15345	0.772478	-0.928985853526401	0.11412	0.5812106	3.04856071153045E-6	0.01202	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.337	0.337	0.15206	-0.237000	0.09007	.	.	0.397000	0.20528	0.000000	0.06391	0.000000	0.08366	0.005000	0.06747	.	.	.	.	.	.;.	.	.	.	.	.	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	0.04762	124.11	34	chr4	9210768	.	C	G	124.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=5.26;DP=855;ExcessHet=0.1072;FS=0.000;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=21.78;MQRankSum=2.60;QD=1.27;ReadPosRankSum=0.670;SOR=0.041	GT:AD:DP:GQ:PL	0/1:29,7:36:86:86,0,645	19	0	2	0
chr4	11399730	11399730	C	A	exonic	HS3ST1	.	nonsynonymous SNV	HS3ST1:NM_005114:exon2:c.G276T:p.W92C,	.	.	428	1092	2	0	0	2	0.000914913	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08	T	1.0	D	0.964	D	0.000	D	1.000	D	1.995	M	-1.52	D	0.233	D	0.609	D	0.838	3.398	17.47	4.97	1.466	5.920	13.837	0.690	0.160803197647	.	.	5.807e-05	0	0	0	0	9.085e-05	0	6.056e-05	7.12e-05	11	154602	rs202149392	3.763e-05	3.762e-05	3.676e-05	3.851e-05	0.0003	2.96e-05	2.656e-05	6.094e-05	2.522e-05	0	8.944e-05	0.0005	0	0	0.0003	2.428e-05	0.0001	3.478e-05	4.595e-05	4.593e-05	2.569e-05	6.712e-05	0.0002	2.107e-05	1.526e-05	7.97e-06	2.98e-06	4.81e-05	0	0	0.0006	0	0	0	2.94e-05	0	0.0002	0.02	0.49613	D	0.081	0.41742	T	1.0	0.90584	D	0.964	0.71005	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.35	0.67516	M	-1.52	0.81478	D	-3.18	0.64478	D	0.721	0.72299	0.233	0.86467	D	0.609	0.86136	D	10	0.8476702	0.83936	D	0.160803	0.84072	D	0.690	0.88726	0.524	0.62818	0.821454175931	0.81977	0.92974560795578	0.92952	1.64781049961	0.89498	0.772499322891	0.77799	T	0.641823	0.89026	D	0.148961	0.69171	D	0.162099	0.80935	D	0.64268684387207	0.38151	D	0.974503	0.90930	D	0.6129793	0.73387	0.4833681	0.70090	0.6129793	0.73389	0.4833681	0.70090	-5.428	0.41188	T	.	.	0.888	0.81990	P	.	.	4.803935	0.78081	26.8	0.98987295505445816	0.49861	0.94325	0.60806	D	AEFDBCI	0.871866	0.79346	D	0.66424658148627	0.77293	6.647125	0.645850448634753	0.78301	6.849052	0.965177577117284	0.28813	0.553676	0.25195	0	0.588066	0.40923	0	0.576033	0.28219	0	0.620846	0.47308	0	.	.	5.81	4.97	0.65419	5.999000	0.70334	4.883000	0.45686	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.9273:0.0:0.0727	13.837	0.62910	884	0.28482	Sulfotransferase 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	2528.98	33	chr4	11399730	.	C	A	2528.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.28;DP=889;ExcessHet=0.0000;FS=2.700;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.62;ReadPosRankSum=-2.570e-01;SOR=0.506	GT:AD:DP:GQ:PL	0/1:81,92:173:99:2543,0,2040	20	0	1	0
chr4	15003812	15003812	G	C	exonic	CPEB2	.	nonsynonymous SNV	CPEB2:NM_001177381:exon1:c.G1139C:p.G380A	.	.	551	948	18	5	0	28	0.014553	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	.	.	.	.	.	.	1.000	N	0	N	0.85	T	-0.994	T	0.073	T	0.057	0.805	8.232	1.45	0.796	3.139	8.433	0.044	.	.	0.0119808	0.1152	0.1	0.2	0	.	0.0357	0.0714	0.1228	0.0020116	311	154602	rs572958953	0.0079	0.0069	0.0075	0.0082	0.0465	0.0077	0.0076	0.0440	0.0430	0.0009	0.0046	0.0052	0	0.0027	0.0196	0.0073	0.0097	0.0465	0.0071	0.0069	0.0063	0.0079	0.0510	0.0067	0.0066	0.0457	0.0436	0.0013	0.0144	0.0087	0.0068	0.0002	0.0006	0.0492	0.0082	0.0059	0.0510	0.0	0.91255	D	0.515	0.21947	T	.	.	.	.	.	.	.	.	.	.	0.845602	0.28570	N	.	.	.	0.8	0.48769	T	-0.21	0.12472	N	0.067	0.17691	-0.9936	0.31670	T	0.073	0.29483	T	7	0.0017962456	0.00024	T	.	.	.	0.044	0.11924	.	.	.	.	0.4029871108901258	0.40214	0.342334712265	0.36172	0.784202933311	0.79562	T	.	.	.	-0.565046	0.00237	T	-0.558664	0.16501	T	0.133774850907415	0.15726	T	.	.	.	.	.	.	.	.	.	.	.	-3.859	0.21884	T	.	.	0.287	0.69497	B	.;.	.;.	3.220641	0.43878	21.8	0.86073891809344205	0.16296	0.51470	0.28903	D	AEFDBHCI	0.328139	0.42889	N	-0.293961584911156	0.29379	1.628797	-0.307236041630183	0.27864	1.549253	0.999999996077333	0.74766	0.437478	0.07067	0	0.166054	0.03914	2	0.606814	0.37721	0	0.621717	0.48901	0	.	.	1.45	1.45	0.21708	2.813000	0.47701	6.620000	0.56116	0.208000	0.17961	0.998000	0.41325	1.000000	0.68203	0.803000	0.37862	0.0:0.0:1.0:0.0	8.433	0.31932	579	0.69780	.;.	.	.	.	.	.	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	0.025	56.62	5	chr4	15003812	.	G	C	56.62	.	AC=1;AF=0.025;AN=40;BaseQRankSum=0.108;DP=244;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0441;MLEAC=1;MLEAF=0.025;MQ=60.00;MQRankSum=0.00;QD=8.09;ReadPosRankSum=0.00;SOR=0.446	GT:AD:DP:GQ:PL	0/1:4,3:7:70:70,0,110	19	0	1	1
chr4	15004134	15004137	CTTC	-	exonic	CPEB2	.	frameshift deletion	CPEB2:NM_001177381:exon1:c.1461_1464del:p.F488Afs*17	.	.	374	1147	1	0	0	1	0.00043573	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001	0.0025	0.0001	0.0001	0.0002	0.0001	0.0001	0.0001	8.687e-05	0.0002	0.0002	0.0003	0.0002	0.0001	0.0002	0.0001	0.0003	0	1.999e-05	0.0003	2.604e-05	1.365e-05	6.581e-05	5.32e-06	2.47e-06	.	.	0	0	6.581e-05	0	0	9.682e-05	0	1.495e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	157.16	64	chr4	15004133	.	GCTTC	G	157.16	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.030e-01;DP=1268;ExcessHet=0.0000;FS=86.640;InbreedingCoeff=-0.0342;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=3.27;ReadPosRankSum=-2.566e+00;SOR=5.546	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:41,7:48:99:0|1:15004128_C_G:171,0,1665:15004128	20	0	1	0
chr4	15004137	15004137	-	GGGG	exonic	CPEB2	.	frameshift insertion	CPEB2:NM_001177381:exon1:c.1464_1465insGGGG:p.P491Rfs*62	.	.	433	1088	1	0	0	1	0.000459348	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.402e-05	0.0002	1.364e-05	1.442e-05	6.864e-05	2.33e-06	8.7e-07	.	.	0	0	6.864e-05	0	0	0	0	1.553e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04545	77.89	34	chr4	15004137	.	C	CGGGG	77.89	.	AC=1;AF=0.045;AN=22;DP=787;ExcessHet=0.0000;FS=76.152;InbreedingCoeff=-0.1723;MLEAC=2;MLEAF=0.091;MQ=60.00;MQRankSum=0.00;QD=1.69;ReadPosRankSum=-3.295e+00;SOR=5.279	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:41,5:46:87:0|1:15004128_C_G:87,0,1672:15004128	10	0	1	10
chr4	26673793	26673793	A	G	exonic	TBC1D19	.	nonsynonymous SNV	TBC1D19:NM_001292054:exon8:c.A526G:p.S176G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09	T	0.001	B	0.001	B	0.000	D	1.000	D	1.43	L	1.5	T	-1.097	T	0.029	T	0.236	2.564	14.53	5.1	2.056	5.570	15.189	0.090	.	0.0077	0.00798722	0.0021	0.0246	0.0003	0	0	3.173e-05	0.0012	6.595e-05	0.0019469	301	154602	rs16878555	0.0006	0.0006	0.0007	0.0005	0.0234	0.0006	0.0006	0.0220	0.0215	0.0234	0.0007	0	0	0	0.0005	1.535e-05	0.0012	6.97e-05	0.0064	0.0065	0.0067	0.0062	0.0226	0.0061	0.0060	0.0214	0.0209	0.0226	0	0.0019	0	0	0	0	2.942e-05	0.0047	0.0002	0.118	0.34982	T	0.211	0.35205	T	0.0	0.02946	B	0.0	0.01387	B	0.000000	0.84330	D	0.039134	0.999995	0.58761	D	2.045	0.56016	M	0.91	0.46028	T	-0.72	0.22944	N	0.184	0.19995	-1.0974	0.04420	T	0.029	0.12497	T	10	0.0053832233	0.00118	T	.	.	.	0.090	0.26093	.	.	0.553913597673	0.55050	0.47403113405047187	0.47322	0.269854934135	0.29508	0.493964850903	0.37989	T	0.03936	0.25161	T	-0.51212	0.00488	T	-0.489477	0.23448	T	0.0120411407257514	0.00190	T	0.835616	0.50622	T	0.21552318	0.43987	0.17673543	0.40228	0.21552318	0.43987	0.17673543	0.40227	-4.639	0.32658	T	.	.	0.219	0.54761	B	.;.;.;.	.;.;.;.	2.884514	0.38179	20.7	0.99223959344419965	0.55994	0.97786	0.77123	D	AEFBI	0.488156	0.52660	N	0.00515367208645484	0.42089	2.529473	0.172264828668429	0.48332	3.050654	0.990472750754274	0.32165	0.615465	0.37627	0	0.588015	0.36545	0	0.618467	0.43123	0	0.655142	0.61905	0	.	.	5.1	5.1	0.68917	5.144000	0.64675	7.978000	0.76064	0.691000	0.84096	1.000000	0.71638	1.000000	0.68203	0.990000	0.65344	1.0:0.0:0.0:0.0	15.189	0.72714	751	0.51694	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	2015.11	33	chr4	26673793	.	A	G	2015.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=2.33;DP=849;ExcessHet=0.1072;FS=2.612;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=11.32;ReadPosRankSum=-1.020e-01;SOR=0.506	GT:AD:DP:GQ:PL	0/1:43,44:87:99:1122,0,917	19	0	2	0
chr4	38827207	38827207	G	A	exonic	TLR6	.	nonsynonymous SNV	TLR6:NM_006068:exon2:c.C2267T:p.T756M,	.	.	424	1017	74	7	0	88	0.0414703	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	0.153	B	0.104	B	0.497	N	1.000	N	0.205	N	-1.71	D	-0.791	T	0.226	T	0.035	0.020	4.117	2.33	0.302	0.322	5.462	0.179	.	0.0077	0.00958466	0.0115	0.0018	0.0068	0.0002	0.0027	0.0112	0.0231	0.0308	0.0109313	1690	154602	rs5743820	0.0094	0.0094	0.0082	0.0105	0.0548	0.0092	0.0092	0.0498	0.0479	0.0028	0.0080	0.0265	0.0001	0.0021	0.0548	0.0077	0.0119	0.0326	0.0078	0.0078	0.0077	0.0078	0.0267	0.0074	0.0072	0.0230	0.0216	0.0030	0.0011	0.0086	0.0286	0	0.0031	0.0816	0.0089	0.0166	0.0267	0.033	0.44358	D	0.015	0.70582	D	0.153	0.28093	B	0.104	0.31021	B	0.497084	0.11992	N	0.750305	1	0.08975	N	0	0.06538	N	-1.71	0.83157	D	-1.13	0.29114	N	0.03	0.07398	-0.7909	0.55677	T	0.226	0.59121	T	10	0.0028704405	0.00046	T	.	.	.	0.179	0.44899	.	.	.	.	0.1746402654636805	0.17383	0.193594903952	0.21691	0.278119981289	0.07232	T	0.058549	0.30873	T	-0.534823	0.00360	T	-0.518016	0.20495	T	0.00559374194311265	0.00061	T	0.29847	0.15517	T	0.03610745	0.04378	0.04778994	0.06959	0.03610745	0.04378	0.04778994	0.06958	-5.872	0.46737	T	.	.	0.086	0.10931	B	.;.;.	.;.;.	1.386434	0.17983	13.48	0.97477809307597563	0.34172	0.21857	0.21548	N	AEFBCI	0.204685	0.33110	N	-1.35961097335748	0.03026	0.1345516	-1.34051892723374	0.03918	0.1837954	0.181631973287945	0.17880	0.706548	0.73137	0	0.724815	0.89359	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	4.94	2.33	0.27981	0.841000	0.27267	1.795000	0.28833	-2.553000	0.00247	0.000000	0.06391	0.007000	0.19602	0.002000	0.04165	0.2233:0.0:0.6384:0.1383	5.462	0.15915	674	0.60593	Toll/interleukin-1 receptor homology (TIR) domain|Toll/interleukin-1 receptor homology (TIR) domain|Toll/interleukin-1 receptor homology (TIR) domain;Toll/interleukin-1 receptor homology (TIR) domain|Toll/interleukin-1 receptor homology (TIR) domain|Toll/interleukin-1 receptor homology (TIR) domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.07143	4307.68	99	chr4	38827207	.	G	A	4307.68	.	AC=3;AF=0.071;AN=42;BaseQRankSum=0.701;DP=920;ExcessHet=0.3300;FS=0.935;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=15.33;ReadPosRankSum=-2.360e-01;SOR=0.765	GT:AD:DP:GQ:PL	0/1:33,55:88:99:1511,0,792	18	0	3	0
chr4	52744925	52744925	G	A	exonic	ERVMER34-1	.	nonsynonymous SNV	ERVMER34-1:NM_001242690:exon3:c.C596T:p.A199V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00531231985256	0.0022	0.00179712	0.0010	0.0075	0	0	0	0	0	0	0.0002135	33	154602	rs114652979	0.0003	0.0003	0.0004	0.0002	0.0075	0.0003	0.0002	0.0064	0.0060	0.0075	0.0004	0	0	0	0.0012	6.31e-06	0.0006	0	0.0022	0.0022	0.0022	0.0022	0.0079	0.0020	0.0019	0.0072	0.0069	0.0079	0	0.0006	0	0	0	0	0	0.0009	0	.	.	.	.	.	.	0.121	0.26708	B	0.032	0.22131	B	.	.	.	.	1	0.08975	N	0	0.06538	N	.	.	.	.	.	.	0.059	0.03069	.	.	.	.	.	.	.	0.004546076	0.00094	T	0.005312	0.13587	T	.	.	.	.	0.0551355673512	0.04727	0.15176474567254195	0.15098	.	.	0.289976269007	0.08920	T	0.003975	0.03383	T	-0.555969	0.00268	T	-0.564564	0.15950	T	.	.	.	0.442956	0.12306	T	0.03846434	0.05127	0.10875088	0.26201	0.03846434	0.05127	0.10875088	0.26200	-3.036	0.10574	T	.	.	0.126	0.26855	B	.;.	.;.	0.398096	0.07692	4.369	0.7472273421477531	0.10802	0.06433	0.12439	N	AEFBCI	0.051618	0.09136	N	.	.	.	.	.	.	2.10239964520362E-4	0.05948	0.67177	0.52595	0	0.547309	0.14657	0	0.702456	0.68683	0	0.530356	0.10902	0	.	.	1.22	1.22	0.20300	1.415000	0.34355	0.435000	0.18365	0.509000	0.23192	0.003000	0.16062	0.000000	0.08366	0.056000	0.15673	0.0:0.0:1.0:0.0	5.892	0.18163	333	0.86326	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1497.98	92	chr4	52744925	.	G	A	1497.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.70;DP=1285;ExcessHet=0.0000;FS=0.680;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.98;ReadPosRankSum=2.66;SOR=0.800	GT:AD:DP:GQ:PL	0/1:75,50:125:99:1512,0,2138	20	0	1	0
chr4	53352667	53352667	G	A	exonic	SCFD2	.	nonsynonymous SNV	SCFD2:NM_152540:exon2:c.C938T:p.A313V,	.	.	435	1048	36	3	0	42	0.0196445	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.28	T	0.008	B	0.008	B	0.000	D	1.000	N	0	N	-2.01	D	-0.790	T	0.318	T	0.271	1.165	9.740	4.15	0.849	3.548	11.600	0.244	.	0.0018	0.0127796	0.0081	0.0003	0.0021	0	0	0.0025	0.0155	0.0472	0.0072121	1115	154602	rs147606542	0.0044	0.0044	0.0029	0.0059	0.0484	0.0043	0.0043	0.0472	0.0467	0.0007	0.0010	0.0102	7.557e-05	0	0.0165	0.0013	0.0057	0.0484	0.0029	0.0030	0.0023	0.0037	0.0483	0.0027	0.0026	0.0432	0.0412	0.0003	0	0.0012	0.0153	0	9.422e-05	0.0102	0.0018	0.0033	0.0483	0.161	0.34621	T	0.007	0.69154	D	0.005	0.14655	B	0.003	0.13708	B	0.000005	0.62929	D	0.060828	0.999646	0.20796	N	0.345	0.11182	N	-2.01	0.85468	D	-1.22	0.32387	N	0.333	0.37613	-0.7904	0.55706	T	0.318	0.68779	T	10	0.0073967874	0.00168	T	.	.	.	0.244	0.55061	.	.	0.80504618492	0.80322	0.24291852783345025	0.24205	0.195167961447	0.21852	0.373945266008	0.21396	T	0.185283	0.53820	T	-0.361719	0.04034	T	-0.256591	0.49163	T	0.0184760098629361	0.00563	T	0.852615	0.53799	D	0.039329845	0.05411	0.056673326	0.10169	0.039329845	0.05410	0.056673326	0.10169	-4.853	0.38408	T	.	.	0.145	0.31980	B	.;.;.;.	.;.;.;.	1.982650	0.25189	16.67	0.94545149459678823	0.25056	0.74740	0.36570	D	AEFDBI	0.137870	0.25899	N	-0.668099569290839	0.16934	0.8671762	-0.498975521825984	0.22182	1.203574	0.99253700277276	0.32874	0.732398	0.92422	0	0.724815	0.89359	0	0.608884	0.39905	0	0.727631	0.95156	0	.	.	5.33	4.15	0.47978	3.576000	0.53622	3.493000	0.38728	-0.166000	0.11466	1.000000	0.71638	1.000000	0.68203	0.008000	0.08271	0.0:0.0:0.1497:0.8503	11.600	0.50254	611	0.66908	.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	1271.11	41	chr4	53352667	.	G	A	1271.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.586;DP=824;ExcessHet=0.1072;FS=0.627;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=8.89;ReadPosRankSum=1.08;SOR=0.759	GT:AD:DP:GQ:PL	0/1:35,30:65:99:612,0,907	19	0	2	0
chr4	56476680	56476680	G	A	exonic	SRP72	.	nonsynonymous SNV	SRP72:NM_001267722:exon6:c.G620A:p.R207H	Bone marrow failure syndrome 1, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	40335	not_provided|Autosomal_dominant_aplasia_and_myelodysplasia	MedGen:C3661900|MONDO:MONDO:0013851,MedGen:C3808553,OMIM:614675,Orphanet:314399	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.04	D	0.509	P	0.168	B	0.000	D	1.000	N	3.03	M	-1.07	T	0.492	D	0.828	D	0.806	1.673	11.55	5.28	2.477	7.534	14.406	0.680	0.117873569897	.	.	3.302e-05	0	0	0	0	3.004e-05	0.0022	0	2.59e-05	4	154602	rs387907189	2.192e-05	2.326e-05	2.181e-05	2.203e-05	4.649e-05	1.586e-05	1.358e-05	1.585e-05	1.227e-05	2.992e-05	4.49e-05	0	0	0	0	2.159e-05	1.658e-05	4.649e-05	3.942e-05	3.937e-05	5.141e-05	2.688e-05	9.63e-05	1.715e-05	1.129e-05	3.244e-05	1.911e-05	9.63e-05	0	0	0	0	0	0	2.941e-05	0	0	0.002	0.72154	D	0.005	0.74150	D	0.509	0.37289	P	0.051	0.25434	B	0.000000	0.84330	D	0.045615	0.999992	0.58761	D	2.09	0.57893	M	-3.42	0.94348	D	-3.7	0.70553	D	0.925	0.92901	0.492	0.90440	D	0.828	0.94221	D	10	0.7457602	0.75276	D	0.117874	0.79776	D	0.680	0.88252	.	.	0.915879114771	0.91503	0.4211507886134367	0.42031	0.355989253825	0.37353	0.468293309212	0.34446	T	0.253907	0.62449	T	0.233648	0.77063	D	0.279371	0.87092	D	0.339340006253446	0.26597	T	0.859314	0.63166	D	0.40712798	0.61223	0.3940971	0.64112	0.42941508	0.62714	0.32980445	0.58855	-7.492	0.57554	T	0.6498720031910183	0.72184	0.182	0.39511	B	.;.;.	.;.;.	4.354741	0.66921	25.0	0.99140040068806112	0.53518	0.98939	0.88905	D	AEFBI	0.879698	0.80583	D	0.371765926985898	0.59897	4.173136	0.39827899243769	0.61459	4.346217	0.999179337736757	0.38651	0.732398	0.92422	0	0.743671	0.97443	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.28	5.28	0.74118	7.735000	0.83874	9.908000	0.82404	0.616000	0.49467	1.000000	0.71638	1.000000	0.68203	0.668000	0.33194	0.0:0.0:1.0:0.0	14.406	0.66651	534	0.73357	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	930.98	39	chr4	56476680	.	G	A	930.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.543e+00;DP=755;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.02;ReadPosRankSum=0.625;SOR=0.646	GT:AD:DP:GQ:PL	0/1:22,40:62:99:945,0,483	20	0	1	0
chr4	56601061	56601061	A	C	exonic	THEGL	.	nonsynonymous SNV	THEGL:NM_001256475:exon8:c.A1235C:p.H412P,	.	.	422	1042	53	5	0	63	0.0293433	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00399361	0.0170	0	0.0109	0	.	0.0181	0	0.0176	0.0020569	318	154602	rs189562677	0.0058	0.0055	0.0052	0.0065	0.0194	0.0057	0.0057	0.0186	0.0183	0.0009	0.0022	0.0198	2.799e-05	0.0008	0.0183	0.0050	0.0073	0.0194	0.0040	0.0040	0.0040	0.0039	0.0164	0.0037	0.0036	0.0135	0.0124	0.0006	0.0011	0.0014	0.0196	0	0.0012	0.0136	0.0056	0.0057	0.0164	0.036	0.43393	D	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	.	.	.	2.015	0.55033	M	1.54	0.30133	T	-4.5	0.78135	D	0.172	0.18376	.	.	.	.	.	.	.	0.005950302	0.00133	T	.	.	.	.	.	.	.	.	.	0.4504680127375459	0.44964	.	.	0.425163269043	0.28547	T	0.043975	0.26670	T	-0.446262	0.01188	T	-0.398205	0.33593	T	.	.	.	0.419858	0.11135	T	0.41277054	0.61608	0.3506432	0.60670	0.41277054	0.61608	0.3506432	0.60669	-6.935	0.53558	T	.	.	0.371	0.57902	A	.	.	2.684197	0.35026	19.79	0.84540003119271534	0.15351	0.51585	0.28930	D	AEFBI	0.193064	0.32019	N	.	.	.	.	.	.	0.0167546444620353	0.12869	0.487112	0.14033	0	0.573888	0.26702	0	0.59043	0.30614	0	0.530356	0.10902	0	.	.	5.14	5.14	0.70008	2.789000	0.47504	4.571000	0.43881	0.750000	0.87069	0.767000	0.29322	0.995000	0.32472	0.005000	0.06747	1.0:0.0:0.0:0.0	11.264	0.48329	864	0.32732	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1828.98	34	chr4	56601061	.	A	C	1828.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.66;DP=822;ExcessHet=0.0000;FS=1.441;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.07;ReadPosRankSum=-7.690e-01;SOR=0.558	GT:AD:DP:GQ:PL	0/1:64,66:130:99:1843,0,1657	20	0	1	0
chr4	69214601	69214601	G	T	exonic	UGT2B11	.	nonsynonymous SNV	UGT2B11:NM_001073:exon1:c.C122A:p.T41K,	.	.	422	1098	2	0	0	2	0.000909918	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.54	T	0.02	B	0.071	B	0.049	U	1.000	N	1.37	L	0.14	T	-1.030	T	0.115	T	0.225	-1.088	0.154	1.02	0.131	-0.675	3.995	0.046	.	.	0.00199681	0.0009	0	0	0	0	1.5e-05	0	0.0064	0.0007503	116	154602	rs536264814	0.0003	0.0003	0.0002	0.0005	0.0056	0.0003	0.0003	0.0052	0.0050	0	0	0	0	0	0.0002	2.699e-06	0.0003	0.0056	0.0003	0.0003	0.0002	0.0004	0.0081	0.0002	0.0002	0.0061	0.0054	2.408e-05	0	0	0	0	0	0	0	0	0.0081	0.069	0.35537	T	0.553	0.09329	T	0.02	0.18235	B	0.071	0.27960	B	0.048528	0.23243	U	0.343302	1	0.08975	N	2.085	0.57729	M	0.14	0.60854	T	-3.49	0.68056	D	0.147	0.14905	-1.0300	0.20454	T	0.115	0.40831	T	10	0.010556012	0.00234	T	.	.	.	0.046	0.12618	.	.	0.500113493057	0.49646	0.18687939628225586	0.18605	0.0643857280339	0.07174	0.396722584963	0.24612	T	0.021986	0.17030	T	-0.513293	0.00481	T	-0.506919	0.21632	T	0.0407751439886418	0.03831	T	0.689031	0.29821	T	0.23873067	0.46754	0.3228257	0.58220	0.23873067	0.46754	0.3228257	0.58219	-8.001	0.61077	D	.	.	0.243	0.47697	B	.	.	1.166856	0.15563	11.94	0.71820518029952085	0.09760	0.02699	0.07344	N	AEFI	0.087525	0.17747	N	-1.09274235343558	0.06776	0.3129011	-1.17806392294003	0.06278	0.3016654	1.56304191367909E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.96	1.02	0.19102	-1.552000	0.02280	.	.	0.603000	0.45986	0.000000	0.06391	0.000000	0.08366	0.006000	0.07323	0.4377:0.0:0.5623:0.0	3.995	0.09043	550	0.72197	.	.	.	.	.	.	Likely benign	0	0	0	0	0	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	5004.98	42	chr4	69214601	.	G	T	5004.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.115;DP=1162;ExcessHet=0.0000;FS=1.221;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=55.52;MQRankSum=-7.220e-01;QD=13.49;ReadPosRankSum=0.272;SOR=0.613	GT:AD:DP:GQ:PL	0/1:178,193:371:99:5019,0,4561	20	0	1	0
chr4	71486986	71486986	G	A	exonic	SLC4A4	.	nonsynonymous SNV	SLC4A4:NM_003759:exon12:c.G1810A:p.E604K	Renal tubular acidosis, proximal, with ocular abnormalities, Autosomal recessive	.	4	1510	8	0	0	8	0.00264201	.	.	299374	Autosomal_recessive_proximal_renal_tubular_acidosis|SLC4A4-related_disorder|not_provided	MONDO:MONDO:0011422,MedGen:C1970309,OMIM:604278,Orphanet:93607|.|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.92	T	0.007	B	0.003	B	0.219	N	1.000	N	0.55	N	-0.73	T	-0.972	T	0.141	T	0.287	-1.156	0.099	3.43	1.448	1.744	4.874	0.106	0.0298721423589	0.0010	0.000798722	0.0006	0.0003	0.0004	0	0	0.0008	0.0055	0	0.0005369	83	154602	rs145378038	0.0005	0.0005	0.0005	0.0005	0.0084	0.0005	0.0004	0.0065	0.0058	0.0007	0.0012	0.0049	2.534e-05	1.876e-05	0.0084	0.0003	0.0010	0.0001	0.0010	0.0010	0.0009	0.0010	0.0046	0.0008	0.0008	0.0037	0.0034	0.0002	0	0.0046	0.0075	0	0	0	0.0005	0.0024	0.0002	0.82	0.03696	T	0.833	0.03863	T	0.0	0.14184	B	0.001	0.08700	B	0.219375	0.16175	N	0.600177	1	0.08975	N	0.345	0.11182	N	-1.1	0.77336	T	-0.82	0.22508	N	0.471	0.50778	-0.9720	0.36776	T	0.141	0.46091	T	10	0.006279379	0.00142	T	0.029872	0.52294	D	0.106	0.30130	.	.	0.310597465726	0.30670	0.7448526558527874	0.74431	0.591792601973	0.54603	0.371115744114	0.20992	T	0.329032	0.69938	T	-0.384934	0.02899	T	-0.371259	0.36743	T	0.00713112017665689	0.00081	T	0.826217	0.48957	T	0.07781478	0.17684	0.073392235	0.15944	0.06422923	0.13606	0.054041848	0.09218	-4.556	0.31932	T	.	.	0.083	0.09288	B	.;.;.;.;.	.;.;.;.;.	1.642277	0.20957	14.99	0.50640343450788738	0.04420	0.04691	0.10376	N	AEFBI	0.096412	0.19464	N	-0.797935580826612	0.13364	0.6577997	-0.706285726043816	0.16803	0.890665	0.0202894808128293	0.13243	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.33	3.43	0.38372	1.838000	0.38851	7.212000	0.57825	0.676000	0.76740	0.027000	0.20232	1.000000	0.68203	0.082000	0.17360	0.1364:0.2187:0.6449:0.0	4.874	0.13006	703	0.57489	Bicarbonate transporter, C-terminal;Bicarbonate transporter, C-terminal;Bicarbonate transporter, 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	506.98	33	chr4	71486986	.	G	A	506.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.785e+00;DP=728;ExcessHet=0.0000;FS=1.177;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.52;ReadPosRankSum=0.681;SOR=1.085	GT:AD:DP:GQ:PL	0/1:22,22:44:99:521,0,644	20	0	1	0
chr4	73869681	73869681	C	T	exonic	CXCL1	.	nonsynonymous SNV	CXCL1:NM_001511:exon2:c.C113T:p.A38V,	.	.	413	1104	5	0	0	5	0.00225938	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.56	T	0.001	B	0.019	B	0.671	N	1.000	N	0.245	N	1.55	T	-0.963	T	0.033	T	0.056	1.237	10.02	-7.71	-1.321	-2.137	12.871	0.034	0.00479082268789	7.7e-05	0.000399361	0.0002	0	0.0002	0	0	0.0001	0	0.0004	0.0001358	21	154602	rs201091698	0.0001	0.0001	6.126e-05	0.0001	0.0035	9.115e-05	8.645e-05	0.0023	0.0019	0	0.0002	0	0	0	0.0035	3.777e-05	0.0002	0.0008	9.846e-05	9.841e-05	6.422e-05	0.0001	0.0014	6.001e-05	4.875e-05	0.0007	0.0005	0	0	0.0002	0.0003	0	0	0	5.879e-05	0	0.0014	0.523	0.07187	T	0.629	0.07220	T	0.001	0.07471	B	0.019	0.18783	B	0.671169	0.10340	N	0.868290	1	0.08975	N	0.165	0.08973	N	1.55	0.29866	T	-0.69	0.19720	N	0.134	0.13055	-0.9630	0.38606	T	0.033	0.14117	T	10	0.0109891	0.00242	T	0.004791	0.11973	T	0.034	0.08419	.	.	0.126345400529	0.12197	0.12080034057420752	0.12007	0.123718543078	0.13920	0.448503553867	0.31739	T	0.115297	0.43378	T	-0.652804	0.00070	T	-0.811321	0.01635	T	0.771503388881683	0.44530	D	0.160084	0.01443	T	0.03503785	0.04047	0.037996657	0.03572	0.03503785	0.04047	0.037996657	0.03571	-4.08	0.24994	T	.	.	0.082	0.08948	B	.	.	-1.203186	0.00527	0.012	0.83055295649272098	0.14518	0.01912	0.05850	N	ALL	0.051918	0.09217	N	-1.82293793063761	0.00491	0.02114847	-1.88660079610653	0.00520	0.02306572	0.999999999996476	0.74766	0.497415	0.19182	0	0.59043	0.45803	0	0.503968	0.08637	0	0.56214	0.19341	0	.	.	5.05	-7.71	0.01116	-1.837000	0.01782	-8.333000	0.00987	-0.802000	0.03151	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.0:0.7225:0.1246:0.153	12.871	0.57354	429	0.80881	.	.	.	.	.	.	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	1847.98	35	chr4	73869681	.	C	T	1847.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.43;DP=964;ExcessHet=0.0000;FS=0.548;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.53;ReadPosRankSum=-1.365e+00;SOR=0.641	GT:AD:DP:GQ:PL	0/1:122,72:194:99:1862,0,3173	20	0	1	0
chr4	76213464	76213464	C	T	exonic	SCARB2	.	nonsynonymous SNV	SCARB2:NM_001204255:exon1:c.G80A:p.R27Q	Epilepsy, progressive myoclonic 4, with or without renal failure, Autosomal recessive	.	0	1515	7	0	0	7	0.00230491	.	.	201798	not_provided|Inborn_genetic_diseases|Progressive_myoclonic_epilepsy|Childhood_epilepsy_with_centrotemporal_spikes|not_specified	MedGen:C3661900|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0020074,MedGen:C0751778,OMIM:PS254800,Orphanet:308,Orphanet:98261|MONDO:MONDO:0007295,MedGen:C0376532,Orphanet:1945|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.31	T	0.998	D	0.988	D	0.141	N	0.870	N	0.09	N	-0.58	T	-0.735	T	0.299	T	0.748	2.893	15.64	4.62	2.411	1.530	12.822	0.370	0.0900206137417	7.7e-05	.	0.0002	0	0	0	0	0.0002	0.0032	0.0002	0.0001294	20	154602	rs368906199	0.0002	0.0002	0.0002	0.0002	0.0120	0.0002	0.0002	0.0097	0.0089	5.984e-05	6.779e-05	0.0020	0	0	0.0120	8.376e-05	0.0005	0.0002	9.196e-05	9.192e-05	6.421e-05	0.0001	0.0002	5.526e-05	4.363e-05	5.841e-05	4.238e-05	2.412e-05	0	0	0.0012	0	0	0	0.0001	0	0.0002	0.679	0.05121	T	0.692	0.08332	T	0.568	0.38507	P	0.083	0.29179	B	0.141406	0.18277	N	0.580589	0.870411	0.35552	D	0.675	0.16386	N	-0.58	0.71425	T	0.07	0.06138	N	0.326	0.49420	-0.7352	0.58700	T	0.299	0.67036	T	10	0.077613324	0.12270	T	0.090021	0.75438	D	0.370	0.68930	.	.	0.69196344514	0.68931	0.16489523423882382	0.16409	0.321751381085	0.34373	0.448234736919	0.31703	T	0.08167	0.36652	T	-0.0556206	0.43588	T	-0.0810031	0.64830	T	0.134703749527047	0.15810	T	0.907809	0.70989	D	0.16476555	0.36705	0.15431039	0.36221	0.16476555	0.36705	0.15431039	0.36220	-2.935	0.14936	T	0.08221634980531804	0.04322	0.112	0.26451	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	3.070587	0.41274	21.3	0.99713872933179437	0.81563	0.43081	0.27019	N	ALL	0.284224	0.39714	N	0.10683354842216	0.46782	2.913309	0.20332395547603	0.50031	3.19952	0.999999999830712	0.74766	0.441713	0.08003	0	0.484254	0.07192	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	4.62	4.62	0.56946	1.119000	0.30872	3.825000	0.39969	0.596000	0.33519	0.960000	0.33603	0.999000	0.35428	0.998000	0.85391	0.0:1.0:0.0:0.0	12.822	0.57079	891	0.26808	.;.;.;.;.;.;.	.	.	.	.	.	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	805.98	34	chr4	76213464	.	C	T	805.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=4.42;DP=810;ExcessHet=0.0000;FS=1.779;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=7.98;ReadPosRankSum=1.27;SOR=0.991	GT:AD:DP:GQ:PL	0/1:70,31:101:99:820,0,1704	20	0	1	0
chr4	78237592	78237592	G	A	exonic	FRAS1	.	nonsynonymous SNV	FRAS1:NM_001166133:exon3:c.G191A:p.R64K	Fraser syndrome, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	3159883	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.59	T	0.008	B	0.007	B	0.027	N	0.986	N	0	N	-0.09	T	-1.047	T	0.090	T	0.089	1.846	12.13	3.19	1.365	0.799	7.027	0.089	0.00911734882839	.	.	0.0001	0	0	0	0	0	0	0.0010	9.7e-05	15	154602	rs775743730	3.84e-05	3.899e-05	1.501e-05	6.204e-05	0.0006	3.033e-05	2.726e-05	0.0005	0.0004	0	0	0	0	0	0.0002	0	3.32e-05	0.0006	6.572e-06	6.567e-06	0	1.345e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.393	0.10730	T	0.877	0.03250	T	.	.	.	.	.	.	0.027064	0.25817	N	0.407010	0.98555	0.24700	N	0.38	0.12130	N	-0.09	0.64086	T	-0.36	0.13035	N	0.129	0.12913	-1.0474	0.15130	T	0.090	0.34546	T	10	0.038788795	0.02321	T	0.009117	0.23988	T	0.089	0.25827	0.487	0.57098	0.426084969639	0.42228	0.6420185852228593	0.64136	.	.	0.423288553953	0.28289	T	.	.	.	-0.46735	0.00883	T	-0.532038	0.19083	T	0.037186639842617	0.03188	T	0.519248	0.20051	T	.	.	.	.	.	.	.	.	-1.76	0.02392	T	.	.	0.088	0.11893	B	.;.	.;.	2.176812	0.27743	17.57	0.95945232398814939	0.28256	0.49649	0.28481	N	AEFDBHCI	0.092737	0.18770	N	-0.477040211253998	0.22836	1.222079	-0.260856194041463	0.29399	1.646803	0.999801765529348	0.43304	0.736574	0.97449	0	0.573888	0.26702	0	0.732669	0.93749	0	0.564101	0.26826	0	.	.	5.35	3.19	0.35720	0.148000	0.16042	4.740000	0.44601	0.618000	0.50648	0.994000	0.38300	1.000000	0.68203	0.999000	0.91618	0.3078:0.0:0.6922:0.0	7.027	0.24126	912	0.21483	.;.	.	.	.	.	.	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	780.98	33	chr4	78237592	.	G	A	780.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.896;DP=765;ExcessHet=0.0000;FS=0.971;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.80;ReadPosRankSum=-1.821e+00;SOR=0.656	GT:AD:DP:GQ:PL	0/1:32,29:61:99:795,0,837	20	0	1	0
chr4	82485718	82485718	G	C	exonic	TMEM150C	.	stopgain	TMEM150C:NM_001080506:exon8:c.C543G:p.Y181X	.	.	.	.	.	.	.	.	.	0.0001	0.182	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	.	.	.	.	.	.	1.000	D	.	.	.	.	.	.	.	.	.	3.931	20.0	-0.524	-0.063	0.904	10.727	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	2.052e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.197	0.35620	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.554516	0.95935	D	0.558747	0.95874	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive;Recessive	High;High	7.551913	0.96631	36	0.99231645482670716	0.56246	0.84936	0.44032	D	AEFBI	0.672136	0.63864	D	0.313603425530097	0.56846	3.850099	0.0790961557728284	0.43499	2.650366	0.0045372004880548	0.10604	0.615465	0.37627	0	0.588015	0.36545	0	0.602189	0.34648	0	0.655142	0.61905	0	.	.	5.41	-0.524	0.11325	0.925000	0.28392	2.468000	0.32884	0.667000	0.69007	1.000000	0.71638	1.000000	0.68203	0.928000	0.46473	0.5775:0.0:0.4225:0.0	10.727	0.45273	936	0.14734	.;.	.	.	.	.	.	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	421.18	37	chr4	82485718	.	G	C	421.18	.	AC=4;AF=0.105;AN=38;BaseQRankSum=-8.010e-01;DP=774;ExcessHet=0.6776;FS=135.841;InbreedingCoeff=-0.1537;MLEAC=4;MLEAF=0.105;MQ=60.00;MQRankSum=0.00;QD=2.73;ReadPosRankSum=0.439;SOR=7.761	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:29,6:35:28:0|1:82485718_G_C:28,0,477:82485718	15	0	4	2
chr4	86771343	86771343	G	A	exonic	PTPN13	.	nonsynonymous SNV	PTPN13:NM_080684:exon28:c.G4403A:p.G1468E	.	.	0	1509	12	1	0	14	0.00461741	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.21	T	0.999	D	0.951	D	0.000	D	1.000	D	1.795	L	0.88	T	-0.718	T	0.266	T	0.512	3.852	19.57	5.32	2.659	5.125	19.364	0.141	0.0328492028547	0.0014	0.000399361	0.0023	0.0002	0.0040	0	0.0003	0.0028	0	0.0025	0.0012872	199	154602	rs200197835	0.0013	0.0013	0.0012	0.0013	0.0092	0.0012	0.0012	0.0072	0.0065	0.0003	0.0010	0.0019	0	0.0004	0.0092	0.0013	0.0015	0.0019	0.0010	0.0010	0.0011	0.0009	0.0023	0.0009	0.0008	0.0013	0.0011	0.0002	0	0.0012	0.0023	0.0002	9.42e-05	0.0068	0.0015	0.0024	0.0023	0.005	0.68238	D	0.286	0.22895	T	0.804	0.77913	P	0.47	0.68939	P	0.000191	0.48115	D	0.000000	0.999602	0.50402	D	2.455	0.71248	M	0.77	0.49642	T	-2.07	0.47344	N	0.511	0.62442	-0.7178	0.59570	T	0.266	0.63749	T	10	0.01038003	0.00231	T	0.032849	0.54562	D	0.141	0.37795	.	.	0.681325144492	0.67861	0.2853051659859966	0.28443	0.278121461351	0.30303	0.417560070753	0.27501	T	0.093703	0.39266	T	-0.336813	0.05612	T	-0.262443	0.48579	T	0.0693340315687065	0.08557	T	0.874113	0.58433	D	0.23569645	0.46409	0.40093648	0.64617	0.23569645	0.46409	0.40093648	0.64617	-1.796	0.02772	T	.	.	0.163	0.40457	B	.;.;.;.;.	.;.;.;.;.	3.804592	0.54844	23.5	0.99735981128536155	0.83119	0.93422	0.58175	D	AEFGBI	0.510755	0.53967	D	0.612841366270738	0.73986	6.056534	0.630994193505769	0.77201	6.634192	0.998790007182274	0.37689	0.706548	0.73137	0	0.588066	0.40923	0	0.724815	0.87919	0	0.620846	0.47308	0	.	.	5.32	5.32	0.75377	5.425000	0.66208	6.502000	0.55786	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:1.0:0.0	19.364	0.94445	863	0.32847	.;.;.;.;.	.	.	.	.	.	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	1944.98	33	chr4	86771343	.	G	A	1944.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.774;DP=861;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.93;ReadPosRankSum=-4.780e-01;SOR=0.670	GT:AD:DP:GQ:PL	0/1:85,78:163:99:1959,0,2202	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	1/1:0,48,0:48:99:1507,143,0,1507,143,1507	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	2/2:0,0,43:43:99:.:.:1841,1841,1841,130,130,0	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	2/2:0,0,43:43:99:.:.:1841,1841,1841,130,130,0	0	2	2	0
chr4	87615804	87615812	AGCAGTGAC	-	exonic	DSPP	.	nonframeshift deletion	DSPP:NM_014208:exon5:c.3142_3150del:p.D1053_S1055del,	Deafness, autosomal dominant 39, with dentinogenesis, Autosomal dominant;Dentin dysplasia, type II, Autosomal dominant;Dentinogenesis imperfecta, Shields type II, Autosomal dominant;Dentinogenesis imperfecta, Shields type III, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0007	0	0	0	0	0	0	0.0017	3.84e-05	1	26028	rs771137605	0.0001	0.0001	7.532e-05	0.0002	0.0015	9.862e-05	9.248e-05	0.0012	0.0012	0	6.412e-05	0	6.61e-05	0	0.0004	2.452e-05	0.0001	0.0015	0.0002	0.0003	0.0001	0.0003	0.0020	0.0001	9.893e-05	0.0008	0.0005	0.0004	0	0.0001	0	0.0004	0	0	2.222e-05	0.0008	0.0020	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	795.94	42	chr4	87615803	.	TAGCAGTGAC	T	795.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.462;DP=905;ExcessHet=0.0000;FS=4.240;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=57.67;MQRankSum=-1.443e+00;QD=17.69;ReadPosRankSum=-1.916e+00;SOR=0.458	GT:AD:DP:GQ:PL	0/1:24,21:45:99:810,0,933	20	0	1	0
chr4	87616233	87616241	GACAGCAGC	-	exonic	DSPP	.	nonframeshift deletion	DSPP:NM_014208:exon5:c.3571_3579del:p.S1229_S1231del,	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	.	633	805	61	19	4	103	0.0579286	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0138	.	0.0013	0.0102	0	0	0	0.0002	0	0	0.0001552	24	154602	rs779559161	0.0006	0.0005	0.0006	0.0005	0.0126	0.0005	0.0005	0.0116	0.0111	0.0126	0.0007	0.0008	0	0.0002	0.0037	0.0002	0.0016	4.211e-05	0.0035	0.0035	0.0036	0.0034	0.0109	0.0032	0.0031	0.0099	0.0096	0.0109	0	0.0011	0.0004	0	0.0004	0.0058	0.0003	0.0037	0.0005	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	5326.02	10	chr4	87616232	.	TGACAGCAGC	CGACAGCAGC,T	5326.02	.	AC=7,1;AF=0.219,0.031;AN=32;BaseQRankSum=1.16;DP=1033;ExcessHet=0.0004;FS=3.054;InbreedingCoeff=0.5011;MLEAC=7,1;MLEAF=0.219,0.031;MQ=58.86;MQRankSum=0.680;QD=29.26;ReadPosRankSum=0.832;SOR=0.999	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,50,0:50:99:1|1:87616232_T_C:2104,150,0,2104,150,2104:87616232	11	3	1	5
chr4	95123905	95123905	C	T	exonic	BMPR1B	.	nonsynonymous SNV	BMPR1B:NM_001256792:exon5:c.C445T:p.R149W	Acromesomelic dysplasia, Demirhan type, Autosomal recessive;Brachydactyly, type A1, D, Autosomal dominant;Brachydactyly, type A2, Autosomal dominant	.	16	1486	19	1	0	21	0.00701637	0.0066	0.07	299981	BMPR1B-related_disorder|Type_A2_brachydactyly|Acromesomelic_dysplasia_3|Brachydactyly|not_provided	.|Human_Phenotype_Ontology:HP:0009372,MONDO:MONDO:0007216,MedGen:C1832702,OMIM:112600,Orphanet:93396|MONDO:MONDO:0012274,MedGen:C4225404,OMIM:609441|Human_Phenotype_Ontology:HP:0001156,Human_Phenotype_Ontology:HP:0001189,Human_Phenotype_Ontology:HP:0001201,Human_Phenotype_Ontology:HP:0005630,Human_Phenotype_Ontology:HP:0005657,Human_Phenotype_Ontology:HP:0005727,Human_Phenotype_Ontology:HP:0006017,Human_Phenotype_Ontology:HP:0006128,Human_Phenotype_Ontology:HP:0100667,MONDO:MONDO:0021004,MedGen:C0221357|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.09	T	0.996	D	0.84	P	0.000	D	1.000	D	2.425	M	-1.78	D	0.298	D	0.648	D	0.979	3.087	16.31	4.51	0.995	6.608	12.858	0.627	.	0.0006	0.00259585	0.0020	0.0002	0.0003	0.0003	0	0.0004	0.0011	0.0126	0.0017788	275	154602	rs34231464	0.0011	0.0011	0.0007	0.0015	0.0136	0.0011	0.0010	0.0130	0.0127	0.0001	8.955e-05	0	0.0001	0	0.0044	0.0003	0.0014	0.0136	0.0006	0.0006	0.0005	0.0008	0.0131	0.0005	0.0005	0.0105	0.0096	0.0001	0	6.557e-05	0	0	0	0	0.0004	0.0009	0.0131	0.029	0.46129	D	0.112	0.37037	T	0.996	0.68779	D	0.84	0.60170	P	0.000000	0.84330	D	0.000000	1	0.81001	D	2.945	0.84822	M	-1.79	0.83815	D	-1.56	0.46673	N	0.947	0.95491	0.298	0.87526	D	0.648	0.87727	D	10	0.012114406	0.00262	T	.	.	.	0.627	0.85615	.	.	0.9414837919	0.94087	0.6406858933626726	0.64003	0.252841091345	0.27850	0.784736335278	0.79644	T	0.453342	0.79332	T	0.0536441	0.58811	T	0.315956	0.88921	D	0.0508546990591108	0.05649	T	0.973003	0.90263	D	0.21071686	0.43376	0.12677509	0.30527	0.2615601	0.49215	0.13505195	0.32345	-5.663	0.43363	T	.	.	0.212	0.45507	B	.;.;.;.;.	.;.;.;.;.	4.789539	0.77707	26.8	0.98830489648652331	0.46952	0.93889	0.59485	D	AEFI	0.713869	0.66653	D	0.456309832186313	0.64563	4.713541	0.433110006652386	0.63640	4.601784	0.999999120202935	0.74766	0.615465	0.37627	0	0.573888	0.26702	0	0.602189	0.34648	0	0.655142	0.61905	0	.	.	5.68	4.51	0.54589	6.600000	0.74011	9.268000	0.79613	-0.136000	0.12710	1.000000	0.71638	1.000000	0.68203	0.973000	0.55318	0.8579:0.1421:0.0:0.0	12.858	0.57287	573	0.70213	.;.;.;.;.	.	.	.	.	.	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	0.02381	589.98	34	chr4	95123905	.	C	T	589.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.19;DP=753;ExcessHet=0.0000;FS=1.034;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.35;ReadPosRankSum=1.03;SOR=0.978	GT:AD:DP:GQ:PL	0/1:31,26:57:99:604,0,679	20	0	1	0
chr4	99347057	99347057	C	G	exonic	ADH1C	.	nonsynonymous SNV	ADH1C:NM_000669:exon3:c.G208C:p.A70P,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.79402	D	0.987	0.61912	D	0.964	0.71005	D	.	.	.	.	.	.	.	1.585	0.39878	L	.	.	.	.	.	.	0.553	0.57860	.	.	.	.	.	.	.	0.45086047	0.58689	T	.	.	.	.	.	.	.	0.456647468687	0.45291	0.8867280223172282	0.88641	.	.	0.398606598377	0.24874	T	0.025436	0.35537	T	0.163225	0.70500	D	-0.00331565	0.70121	D	.	.	.	0.937806	0.78939	D	0.76270866	0.81614	0.69800264	0.82213	0.76270866	0.81615	0.69800264	0.82214	-9.592	0.71430	D	.	.	0.950	0.86857	P	.;.;.	.;.;.	3.454651	0.48119	22.6	0.99707451619795451	0.81074	0.77981	0.38408	D	AEFI	0.799589	0.72581	D	.	.	.	.	.	.	2.3174768173114E-5	0.03498	0.053691	0.00478	0	0.063388	0.01293	0	0.060301	0.00762	0	0.057018	0.00518	0	.	.	3.71	2.86	0.32427	2.765000	0.47304	4.616000	0.44056	0.549000	0.26987	0.378000	0.25989	0.437000	0.24884	0.144000	0.20092	0.0:0.9091:0.0:0.0909	11.418	0.49207	625	0.65529	Alcohol dehydrogenase, N-terminal|Alcohol dehydrogenase, zinc-type, conserved site|Polyketide synthase, enoylreductase domain;Alcohol dehydrogenase, N-terminal|Alcohol dehydrogenase, zinc-type, conserved site;Alcohol dehydrogenase, N-terminal|Alcohol dehydrogenase, zinc-type, conserved site	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	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	0/1:81,48:132:99:.:.:317,0,1353	4	0	16	1
chr4	106925843	106925843	C	T	exonic	DKK2	.	nonsynonymous SNV	DKK2:NM_014421:exon2:c.G329A:p.C110Y,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.999	D	0.000	D	1.000	D	2.47	M	-0.26	T	0.412	D	0.664	D	0.981	4.876	27.9	5.42	2.704	7.410	19.578	0.827	0.176637981399	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	2.654e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.0	0.91255	D	0.0	0.92824	D	0.997	0.70673	D	0.995	0.83170	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.955	0.85029	M	-1.1	0.77336	T	-9.32	0.98533	D	0.932	0.94314	0.412	0.89282	D	0.664	0.88336	D	10	0.98750603	0.99120	D	0.176638	0.85234	D	0.827	0.94503	0.93	0.98900	0.885162981381	0.88403	0.9789097433456503	0.97881	1.10494106084	0.77866	0.885924994946	0.94743	D	0.85182	0.96635	D	0.396691	0.89724	D	0.332043	0.89595	D	0.999862909317017	0.99418	D	0.89791	0.64303	D	0.95217484	0.96487	0.9381204	0.97644	0.95217484	0.96487	0.9381204	0.97644	-13.914	0.92774	D	.	.	0.997	0.96936	P	.;.;.	.;.;.	5.043277	0.83952	28.2	0.99769904833187384	0.85834	0.98670	0.85379	D	AEFBI	0.952747	0.96846	D	0.846721317432968	0.88920	9.763857	0.817088242842445	0.90956	10.64858	0.999999544324329	0.74766	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	5.42	5.42	0.78666	7.526000	0.80815	7.598000	0.61467	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:1.0:0.0:0.0	19.578	0.95446	856	0.34373	Dickkopf, N-terminal cysteine-rich;Dickkopf, N-terminal cysteine-rich;Dickkopf, N-terminal cysteine-rich	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1842	1269.88	119	chr4	106925843	.	C	T	1269.88	.	AC=7;AF=0.184;AN=38;BaseQRankSum=-3.410e+00;DP=2366;ExcessHet=2.5830;FS=168.069;InbreedingCoeff=-0.2387;MLEAC=8;MLEAF=0.211;MQ=60.00;MQRankSum=0.00;QD=1.25;ReadPosRankSum=0.981;SOR=11.937	GT:AD:DP:GQ:PL	0/1:102,33:135:99:146,0,2082	12	0	7	2
chr4	109660210	109660210	A	G	exonic	MCUB	.	nonsynonymous SNV	MCUB:NM_017918:exon3:c.A191G:p.Y64C,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	1.0	D	0.999	D	0.000	U	1.000	D	1.885	L	0.7	T	-0.554	T	0.268	T	0.922	3.582	18.25	5.28	1.996	5.816	15.217	0.581	0.0234963862855	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	8.212e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.001	0.83351	D	1.0	0.90584	D	0.998	0.88582	D	0.000022	0.55875	U	0.000000	0.999983	0.54805	D	2.98	0.85499	M	0.7	0.51474	T	-7.29	0.94457	D	0.932	0.93723	-0.5540	0.66634	T	0.268	0.63960	T	10	0.96422625	0.95876	D	0.023496	0.46463	T	0.581	0.83137	0.902	0.97858	0.740646738012	0.73832	0.7531181133638718	0.75258	0.503899149776	0.48693	0.678067326546	0.63991	T	0.150207	0.48957	T	0.311575	0.83864	D	0.20978	0.83653	D	0.998927772045135	0.95599	D	0.90141	0.65732	D	0.7741031	0.82294	0.6932214	0.81942	0.7741031	0.82296	0.6932214	0.81943	-7.047	0.54376	T	.	.	0.108	0.20391	B	.	.	4.442489	0.68981	25.3	0.99735133230615836	0.83047	0.97634	0.76048	D	AEFBI	0.652235	0.62570	D	0.574643804236024	0.71594	5.674811	0.517679024185223	0.69179	5.323774	0.994983117754374	0.33894	0.732398	0.92422	0	0.709663	0.81188	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	5.28	5.28	0.74118	5.941000	0.69909	8.971000	0.78474	0.750000	0.87069	1.000000	0.71638	1.000000	0.68203	0.991000	0.66497	1.0:0.0:0.0:0.0	15.217	0.72964	929	0.16858	.	.	.	.	.	.	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	1094.98	43	chr4	109660210	.	A	G	1094.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.82;DP=817;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.41;ReadPosRankSum=0.120;SOR=0.786	GT:AD:DP:GQ:PL	0/1:34,42:76:99:1109,0,732	20	0	1	0
chr4	118054114	118054114	G	A	exonic	NDST3	.	nonsynonymous SNV	NDST3:NM_004784:exon2:c.G204A:p.M68I,	.	.	427	1081	14	0	0	14	0.00643382	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.42	T	0.039	B	0.014	B	0.820	N	1.000	N	0.55	N	1.35	T	-1.019	T	0.056	T	0.06	0.286	5.550	-0.893	-0.576	-0.329	5.668	0.030	0.00562235872519	0.0032	0.00159744	0.0033	0.0005	0.0032	0	0.0005	0.0049	0.0055	0.0014	0.0032406	501	154602	rs78812192	0.0034	0.0034	0.0035	0.0033	0.0045	0.0033	0.0033	0.0036	0.0036	0.0004	0.0029	0.0106	2.52e-05	0.0008	0.0045	0.0037	0.0036	0.0017	0.0025	0.0025	0.0023	0.0027	0.0052	0.0023	0.0022	0.0043	0.0039	0.0005	0	0.0052	0.0136	0	0.0004	0	0.0032	0.0014	0.0004	0.37	0.11550	T	0.526	0.10245	T	0.0	0.02946	B	0.0	0.01387	B	0.820185	0.09184	N	0.924715	1	0.08975	N	1.04	0.26193	L	1.35	0.34648	T	0.58	0.02598	N	0.088	0.06587	-1.0192	0.23975	T	0.056	0.23413	T	10	0.0044923723	0.00092	T	0.005622	0.14530	T	0.030	0.07022	0.348	0.34436	0.372446077551	0.36852	0.38611961801463934	0.38526	0.509347028412	0.49074	0.231498658657	0.02081	T	0.162128	0.50666	T	-0.66809	0.00056	T	-0.731626	0.04254	T	0.000752385890629979	0.00007	T	0.149285	0.01243	T	0.05689058	0.11252	0.061674606	0.11947	0.05689058	0.11252	0.061674606	0.11947	-3.47	0.16014	T	.	.	0.115	0.22933	B	.	.	0.136099	0.05307	1.800	0.88002510401254874	0.17643	0.04083	0.09542	N	AEFI	0.069767	0.13823	N	-0.967093789489084	0.09313	0.4402422	-0.941043674313456	0.11131	0.5652214	0.989493441080729	0.31844	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.478617	0.07155	0	.	.	5.53	-0.893	0.10031	-0.547000	0.06145	-1.319000	0.05727	0.676000	0.76740	0.000000	0.06391	0.000000	0.08366	0.989000	0.64315	0.4642:0.2501:0.2857:0.0	5.668	0.16979	952	0.10565	Heparan sulphate-N-deacetylase	.	.	.	.	.	Likely benign	0	0	0	0	0	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	1506.98	34	chr4	118054114	.	G	A	1506.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.860e-01;DP=868;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.66;ReadPosRankSum=0.336;SOR=0.666	GT:AD:DP:GQ:PL	0/1:91,65:156:99:1521,0,2335	20	0	1	0
chr4	119607011	119607011	C	G	exonic	PDE5A	.	nonsynonymous SNV	PDE5A:NM_001083:exon2:c.G439C:p.D147H	.	.	432	1089	1	0	0	1	0.000458926	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.976	D	0.348	N	1.000	D	2.19	M	-0.61	T	0.071	D	0.555	D	0.943	4.225	22.0	5.64	2.659	6.050	19.719	0.456	0.094103799757	.	.	.	.	.	.	.	.	.	.	.	.	.	rs759447201	2.736e-06	2.736e-06	1.361e-06	4.125e-06	0.0002	6.4e-07	4.3e-07	3.85e-06	1.44e-06	0	0	0	0	0	0.0002	8.993e-07	0	2.319e-05	6.572e-06	6.567e-06	1.285e-05	0	2.413e-05	0	0	.	.	2.413e-05	0	0	0	0	0	0	0	0	0	0.002	0.78490	D	0.006	0.72224	D	1.0	0.90584	D	0.976	0.73562	D	0.347690	0.13865	N	0.689962	1	0.81001	D	2.865	0.83145	M	-0.61	0.71779	T	-2.47	0.53898	N	0.921	0.92433	0.071	0.83648	D	0.555	0.83729	D	10	0.68441355	0.71474	D	0.094104	0.76193	D	0.456	0.75483	0.343	0.33626	0.895448096461	0.89441	0.6068002662657056	0.60611	1.13603457078	0.78791	0.559072256088	0.47137	T	0.423336	0.77412	T	0.363716	0.87533	D	0.284676	0.87372	D	0.884145265140447	0.53437	D	0.950905	0.81262	D	0.34724998	0.56853	0.2671396	0.52568	0.34724998	0.56853	0.2671396	0.52567	-9.604	0.73184	D	.	.	0.240	0.51480	B	.;.;.;.	.;.;.;.	4.746593	0.76605	26.5	0.99620744278639717	0.75413	0.98103	0.79624	D	AEFBI	0.874328	0.79716	D	0.80606056984058	0.86486	8.900232	0.790120509720419	0.89097	9.83755	0.999999999756761	0.74766	0.638212	0.43195	0	0.573888	0.26702	0	0.658983	0.55881	0	0.668105	0.65232	0	.	.	5.64	5.64	0.86480	6.131000	0.71411	7.563000	0.60525	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:1.0:0.0:0.0	19.719	0.96128	575	0.70088	.;.;.;.	.	.	.	.	.	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	2316.98	33	chr4	119607011	.	C	G	2316.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.49;DP=869;ExcessHet=0.0000;FS=0.572;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.96;ReadPosRankSum=-4.680e-01;SOR=0.792	GT:AD:DP:GQ:PL	0/1:83,83:166:99:2331,0,2213	20	0	1	0
chr4	134200395	134200395	C	G	exonic	PABPC4L	.	nonsynonymous SNV	PABPC4L:NM_001114734:exon2:c.G625C:p.V209L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0763880608207	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.01155	T	0.011	0.15914	B	0.019	0.18783	B	.	.	.	.	1	0.08975	N	-0.54	0.02511	N	-1.99	0.85320	D	.	.	.	0.043	0.01577	.	.	.	.	.	.	.	0.047787547	0.04144	T	0.076388	0.72520	D	.	.	.	.	0.886996762563	0.88588	0.2895462314696616	0.28867	.	.	0.353734135628	0.18471	T	0.002578	0.01964	T	-0.13623	0.30492	T	-0.433461	0.29544	T	.	.	.	0.812919	0.46506	T	0.029770393	0.02527	0.09160769	0.21547	0.029770393	0.02526	0.09160769	0.21546	-2.251	0.04295	T	.	.	0.101	0.17402	B	.	.	0.072384	0.04805	1.413	0.78418176329880218	0.12292	0.02313	0.06637	N	AEFDBI	0.081983	0.16595	N	.	.	.	.	.	.	0.997287692517554	0.35456	0.615465	0.37627	0	0.573888	0.26702	0	0.658983	0.55881	0	0.655142	0.61905	0	.	.	4.18	-0.609	0.11026	-0.371000	0.07569	-1.799000	0.04705	-0.262000	0.06890	0.000000	0.06391	0.000000	0.08366	0.525000	0.29590	0.1598:0.3182:0.1558:0.3663	0.873	0.01141	921	0.19240	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	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.07143	140.02	148	chr4	134200395	.	C	G	140.02	.	AC=3;AF=0.071;AN=42;BaseQRankSum=-6.021e+00;DP=2662;ExcessHet=0.3300;FS=188.251;InbreedingCoeff=-0.0749;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=0.23;ReadPosRankSum=1.83;SOR=10.021	GT:AD:DP:GQ:PL	0/1:176,31:217:99:111,0,3604	18	0	3	0
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	1/1:1,97,0:98:99:4290,251,0,4293,292,4334	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	1/1:1,97,0:98:99:4290,251,0,4293,292,4334	0	20	0	0
chr4	139889919	139889924	TGCTGC	-	exonic	MAML3	.	nonframeshift deletion	MAML3:NM_018717:exon2:c.1512_1517del:p.Q509_Q510del,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2143	10519.75	95	chr4	139889909	.	TTGCTGCTGCTGCTGC	TTGCTGCTGC,T,TTGCTGCTGCTGC,TTGCTGCTGCTGCTGCTGC	10519.75	.	AC=3,2,3,1;AF=0.071,0.048,0.071,0.024;AN=42;BaseQRankSum=-8.600e-02;DP=2737;ExcessHet=4.7172;FS=0.000;InbreedingCoeff=-0.2727;MLEAC=3,2,3,1;MLEAF=0.071,0.048,0.071,0.024;MQ=60.00;MQRankSum=0.00;QD=12.16;ReadPosRankSum=1.23;SOR=0.678	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:32,0,40,0,0:72:99:.:.:1515,1611,2906,0,1295,1166,1611,2906,1295,2906,1611,2906,1295,2906,2906	12	0	3	0
chr4	139889910	139889924	TGCTGCTGCTGCTGC	-	exonic	MAML3	.	nonframeshift deletion	MAML3:NM_018717:exon2:c.1512_1526del:p.Q506_Q510del,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1369025793	0.0004	0.0005	0.0004	0.0004	0.0082	0.0004	0.0004	0.0063	0.0057	0.0029	0.0007	3.924e-05	0.0003	1.908e-05	0.0082	0.0003	0.0008	0.0002	0.0029	0.0029	0.0033	0.0025	0.0035	0.0025	0.0024	0.0025	0.0023	0.0029	0	0.0022	0	0.0026	0	0.0233	0.0035	0.0093	0.0023	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2143	10519.75	95	chr4	139889909	.	TTGCTGCTGCTGCTGC	TTGCTGCTGC,T,TTGCTGCTGCTGC,TTGCTGCTGCTGCTGCTGC	10519.75	.	AC=3,2,3,1;AF=0.071,0.048,0.071,0.024;AN=42;BaseQRankSum=-8.600e-02;DP=2737;ExcessHet=4.7172;FS=0.000;InbreedingCoeff=-0.2727;MLEAC=3,2,3,1;MLEAF=0.071,0.048,0.071,0.024;MQ=60.00;MQRankSum=0.00;QD=12.16;ReadPosRankSum=1.23;SOR=0.678	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:32,0,40,0,0:72:99:.:.:1515,1611,2906,0,1295,1166,1611,2906,1295,2906,1611,2906,1295,2906,2906	12	0	3	0
chr4	139889922	139889924	TGC	-	exonic	MAML3	.	nonframeshift deletion	MAML3:NM_018717:exon2:c.1512_1514del:p.Q510del,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2143	10519.75	95	chr4	139889909	.	TTGCTGCTGCTGCTGC	TTGCTGCTGC,T,TTGCTGCTGCTGC,TTGCTGCTGCTGCTGCTGC	10519.75	.	AC=3,2,3,1;AF=0.071,0.048,0.071,0.024;AN=42;BaseQRankSum=-8.600e-02;DP=2737;ExcessHet=4.7172;FS=0.000;InbreedingCoeff=-0.2727;MLEAC=3,2,3,1;MLEAF=0.071,0.048,0.071,0.024;MQ=60.00;MQRankSum=0.00;QD=12.16;ReadPosRankSum=1.23;SOR=0.678	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:32,0,40,0,0:72:99:.:.:1515,1611,2906,0,1295,1166,1611,2906,1295,2906,1611,2906,1295,2906,2906	12	0	3	0
chr4	139889924	139889924	-	TGC	exonic	MAML3	.	nonframeshift insertion	MAML3:NM_018717:exon2:c.1511_1512insGCA:p.Q510_H511insQ,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2143	10519.75	95	chr4	139889909	.	TTGCTGCTGCTGCTGC	TTGCTGCTGC,T,TTGCTGCTGCTGC,TTGCTGCTGCTGCTGCTGC	10519.75	.	AC=3,2,3,1;AF=0.071,0.048,0.071,0.024;AN=42;BaseQRankSum=-8.600e-02;DP=2737;ExcessHet=4.7172;FS=0.000;InbreedingCoeff=-0.2727;MLEAC=3,2,3,1;MLEAF=0.071,0.048,0.071,0.024;MQ=60.00;MQRankSum=0.00;QD=12.16;ReadPosRankSum=1.23;SOR=0.678	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:32,0,40,0,0:72:99:.:.:1515,1611,2906,0,1295,1166,1611,2906,1295,2906,1611,2906,1295,2906,2906	12	0	3	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	0/1:68,50:118:99:.:.:831,0,2044	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	0/1:68,38:117:99:.:.:694,0,2081	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	1/1:0,119,0:119:99:.:.:4216,358,0,4216,358,4216	0	20	0	0
chr4	145870404	145870404	T	C	exonic	ZNF827	.	nonsynonymous SNV	ZNF827:NM_001306215:exon5:c.A1822G:p.T608A	.	.	433	1082	7	0	0	7	0.00322432	.	.	3361854	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.63	T	0.0	B	0.0	B	0.087	N	1.000	N	0	N	3.42	T	-0.923	T	0.007	T	0.04	-0.050	3.759	-0.743	0.107	0.604	3.996	0.011	0.00427768501054	0.0002	0.000199681	0.0003	0	0.0002	0	0	0.0002	0	0.0011	0.0002458	38	154602	rs143420805	0.0002	0.0002	0.0001	0.0003	0.0013	0.0002	0.0002	0.0011	0.0011	0	0.0002	0	0	1.872e-05	0.0010	0.0001	0.0003	0.0013	0.0002	0.0002	0.0001	0.0002	0.0015	0.0001	8.715e-05	0.0007	0.0005	0	0	0.0002	0	0	0	0	0.0002	0	0.0015	0.535	0.09836	T	0.002	0.79402	D	0.0	0.02946	B	0.0	0.01387	B	0.087031	0.20555	N	0.540054	1	0.08975	N	-0.345	0.03330	N	3.38	0.06291	T	-0.15	0.09297	N	0.111	0.10198	-0.9226	0.45196	T	0.007	0.02399	T	10	0.007955313	0.00181	T	0.004278	0.10373	T	0.011	0.01250	.	.	0.043077524339	0.03247	0.09548686569685717	0.09480	0.464639868286	0.45926	0.282848834991	0.07893	T	0.026276	0.19479	T	-0.692551	0.00040	T	-0.808111	0.01708	T	0.0107446096729269	0.00152	T	0.506149	0.16021	T	0.02191936	0.00821	0.019498346	0.00092	0.02191936	0.00821	0.019498346	0.00092	-3.53	0.16926	T	.	.	0.063	0.01534	B	.;.;.	.;.;.	0.533833	0.09024	5.807	0.52599763977462621	0.04778	0.18506	0.20288	N	AEFDGBHI	0.029784	0.02875	N	-1.1783017829962	0.05328	0.2426602	-1.09298666651606	0.07837	0.3828457	0.999987965621657	0.51787	0.706298	0.61202	0	0.696144	0.67643	0	0.688494	0.62686	0	0.613276	0.41899	0	.	.	5.14	-0.743	0.10545	0.666000	0.24779	-0.315000	0.10009	-0.884000	0.02433	0.998000	0.41325	0.000000	0.08366	0.058000	0.15825	0.3457:0.2475:0.0:0.4068	3.996	0.09050	245	0.90404	.;.;.	.	.	.	.	.	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	chr4	145870404	.	T	C	1744.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.275e+00;DP=837;ExcessHet=0.0000;FS=5.154;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.29;ReadPosRankSum=-3.290e-01;SOR=1.140	GT:AD:DP:GQ:PL	0/1:69,73:142:99:1759,0,1786	20	0	1	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	1/3:1,16,0,18,0:35:99:1203,670,665,1240,731,1446,515,0,749,858,1240,731,1446,749,1446	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	1/3:1,16,0,18,0:35:99:1203,670,665,1240,731,1446,515,0,749,858,1240,731,1446,749,1446	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	1/3:1,16,0,18,0:35:99:1203,670,665,1240,731,1446,515,0,749,858,1240,731,1446,749,1446	0	10	4	0
chr4	168378476	168378476	C	T	splicing	DDX60L	NM_001378072:exon34:c.4367-1G>A;NM_001012967:exon33:c.4364-1G>A;NM_001345927:exon33:c.4367-1G>A	.	.	.	.	579	939	4	0	0	4	0.0021254	1.0000	0.684	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.773	D	.	.	.	.	.	.	.	.	.	0.148	4.797	1.43	0.011	1.357	7.137	.	.	0.0002	0.000399361	0.0012	0.0002	0.0010	0	0	0.0021	0	0.0004	0.0005175	80	154602	rs192148683	0.0005	0.0005	0.0005	0.0005	0.0184	0.0005	0.0005	0.0155	0.0145	0.0004	0.0006	0.0068	0	0	0.0184	0.0003	0.0014	0.0003	0.0006	0.0006	0.0006	0.0005	0.0009	0.0005	0.0004	0.0006	0.0004	4.818e-05	0	0.0009	0.0061	0	0	0.0136	0.0005	0.0019	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.772807	0.34171	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.626705	0.00100	T	-0.76573	0.02911	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.	.;.	3.000160	0.40085	21.1	0.6230697411326791	0.06929	0.10863	0.16245	N	AEFBI	.	.	.	0.181864671150474	0.50329	3.223884	-0.202082298553919	0.31461	1.780731	0.95301948726754	0.28049	0.106106	0.02776	0	0.063388	0.01293	0	0.063197	0.01477	0	0.109871	0.03346	0	0.0966614	0.21662	3.36	1.43	0.21585	1.377000	0.33923	1.786000	0.28758	0.454000	0.21428	0.446000	0.26534	0.996000	0.32793	0.014000	0.10232	0.1816:0.7213:0.0:0.0971	7.137	0.24710	976	0.04745	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	316.98	36	chr4	168378476	.	C	T	316.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.135;DP=856;ExcessHet=0.0000;FS=1.309;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.13;ReadPosRankSum=0.563;SOR=0.452	GT:AD:DP:GQ:PL	0/1:24,15:39:99:331,0,598	20	0	1	0
chr4	189955087	189955087	G	A	exonic	FRG1	.	nonsynonymous SNV	FRG1:NM_004477:exon5:c.G368A:p.G123E,	.	.	13	1487	22	0	0	22	0.00734312	.	.	3193452	FRG1-related_disorder	.	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.07	T	0.158	B	0.231	B	0.000	D	1.000	D	.	.	1.33	T	-0.785	T	0.174	T	0.971	3.358	17.31	4.04	1.964	7.413	14.145	0.472	.	.	.	0.4897	0.4582	0.4997	0.4997	0.4998	0.4878	0.4923	0.5	0.0016429	254	154602	rs1061653	9.094e-05	0.0011	0.0001	7.779e-05	0.0002	7.786e-05	7.318e-05	8.68e-05	8.16e-05	0	0	0	2.555e-05	3.785e-05	0.0002	0.0001	0.0002	5.919e-05	6.639e-06	0.0002	1.296e-05	0	2.442e-05	0	0	.	.	2.442e-05	0	0	0	0	0	0	0	0	0	0.114	0.28646	T	0.13	0.34716	T	0.158	0.28271	B	0.231	0.38266	B	0.000000	0.84330	D	0.000000	1	0.81001	D	.	.	.	1.33	0.54347	T	-3.0	0.62343	D	0.348	0.38950	-0.7850	0.56019	T	0.174	0.51785	T	9	0.0034416318	0.00061	T	.	.	.	0.472	0.76554	.	.	.	.	0.8116664237915222	0.81122	0.792136211062	0.65854	0.799077749252	0.81822	T	0.523964	0.83404	D	0.283353	0.81602	D	0.169241	0.81364	D	0.0412919193036066	0.03925	T	.	.	.	0.52535343	0.68566	0.4884381	0.70398	0.52535343	0.68567	0.4884381	0.70399	-12.406	0.86772	D	.	.	0.511	0.65101	A	.;.	.;.	3.676936	0.52319	23.2	0.9910179582551597	0.52496	0.97190	0.73220	D	AEFDBIJ	0.891775	0.82806	D	0.151171549660446	0.48867	3.093769	0.249610940291554	0.52628	3.436328	0.999999999622262	0.74766	0.719381	0.83141	0	0.724815	0.89359	0	0.724815	0.87919	0	0.733575	0.97253	0	.	.	4.04	4.04	0.46262	7.759000	0.84086	8.039000	0.76306	-0.305000	0.06155	1.000000	0.71638	1.000000	0.68203	0.057000	0.15750	0.0:0.0:1.0:0.0	14.145	0.64878	990	0.01402	.;.	.	.	.	.	.	Benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0.02381	38.01	35	chr4	189955087	.	G	A	38.01	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.064e+00;DP=882;ExcessHet=0.0000;FS=1.778;InbreedingCoeff=-0.0268;MLEAC=1;MLEAF=0.024;MQ=57.36;MQRankSum=-6.432e+00;QD=0.88;ReadPosRankSum=-1.876e+00;SOR=0.954	GT:AD:DP:GQ:PL	0/1:38,5:43:52:52,0,1126	20	0	1	0
chr4	189957425	189957425	A	G	exonic	FRG1	.	nonsynonymous SNV	FRG1:NM_004477:exon6:c.A460G:p.S154G,	.	.	1	846	675	0	0	675	0.285171	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.047	B	0.081	B	0.000	D	1.000	D	0.485	N	2.6	T	-1.080	T	0.058	T	0.714	-0.181	3.117	4.19	1.677	5.001	11.575	0.185	0.011311376018	.	.	.	.	.	.	.	.	.	.	.	.	.	rs189762674	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.05061	T	1.0	0.03232	T	0.047	0.21998	B	0.081	0.28987	B	0.000000	0.84330	D	0.000000	0.999996	0.58761	D	.	.	.	2.6	0.41750	T	0.43	0.08971	N	0.459	0.49602	-1.0801	0.07330	T	0.058	0.24391	T	10	0.2421839	0.41410	T	0.011311	0.28804	T	0.185	0.45933	0.71	0.84601	0.556105722742	0.55269	0.4529120959340938	0.45209	0.26085393997	0.28643	0.762159407139	0.76251	T	0.040046	0.25396	T	0.00380976	0.52179	T	-0.232304	0.51549	T	0.277109354734421	0.24049	T	.	.	.	0.28638732	0.51655	0.3411275	0.59856	0.28638732	0.51655	0.3411275	0.59855	-6.244	0.48277	T	.	.	0.080	0.07937	B	.;.;.	.;.;.	3.090452	0.41606	21.4	0.25288622774737562	0.01159	0.90585	0.51883	D	AEDGBI	0.513229	0.54111	D	-0.436064510326238	0.24215	1.305949	-0.265167819402356	0.29255	1.637516	0.999920515020144	0.46280	0.706548	0.73137	0	0.724815	0.89359	0	0.644132	0.48003	0	0.683672	0.66515	0	.	.	4.19	4.19	0.48645	5.243000	0.65217	7.387000	0.58489	-0.212000	0.08331	1.000000	0.71638	1.000000	0.68203	0.404000	0.26872	1.0:0.0:0.0:0.0	11.575	0.50111	991	0.01385	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.2143	2047.95	100	chr4	189957425	.	A	G	2047.95	.	AC=9;AF=0.214;AN=42;BaseQRankSum=-4.170e-01;DP=2475;ExcessHet=4.7172;FS=2.456;InbreedingCoeff=-0.2675;MLEAC=9;MLEAF=0.214;MQ=47.50;MQRankSum=-1.662e+00;QD=1.66;ReadPosRankSum=-7.240e-01;SOR=0.943	GT:AD:DP:GQ:PL	0/1:84,13:97:39:39,0,2231	12	0	9	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	0/1:44,50:94:99:1243,0,1091	18	0	3	0
chr5	1221218	1221218	G	A	exonic	SLC6A19	.	nonsynonymous SNV	SLC6A19:NM_001003841:exon11:c.G1606A:p.V536M,	Hartnup disorder, Autosomal recessive;Hyperglycinuria, Autosomal dominant;Iminoglycinuria, digenic, Autosomal recessive, Digenic recessive	.	1	1516	5	0	0	5	0.00164636	.	.	984670	Neutral_1_amino_acid_transport_defect|not_provided	MONDO:MONDO:0009324,MedGen:C0018609,OMIM:234500,Orphanet:2116|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.05	D	0.988	D	0.816	P	0.001	D	0.876	D	3.105	M	-0.93	T	0.425	D	0.579	D	0.318	1.471	10.86	2.98	0.432	1.185	15.6	0.419	0.112026900132	0.0004	0.000798722	0.0003	0.0009	0.0004	0	0.0002	0.0002	0	0.0002	0.0002393	37	154602	rs145250153	0.0001	0.0001	0.0001	0.0001	0.0035	0.0001	0.0001	0.0023	0.0019	0.0006	0.0003	3.826e-05	2.519e-05	5.618e-05	0.0035	8.363e-05	0.0002	0.0002	0.0003	0.0003	0.0004	0.0003	0.0008	0.0003	0.0002	0.0006	0.0005	0.0008	0	0.0002	0	0.0002	0	0.0034	0.0002	0.0009	0.0004	0.143	0.25355	T	0.05	0.48080	T	0.988	0.62325	D	0.816	0.58888	P	0.000796	0.41772	D	0.197004	0.875544	0.35647	D	3.435	0.92070	M	-0.93	0.75215	T	-1.06	0.27669	N	0.35	0.39153	0.425	0.89465	D	0.579	0.84840	D	10	0.13770604	0.26194	T	0.112027	0.79002	D	0.419	0.72855	.	.	0.653542758682	0.65065	0.7271567388570918	0.72659	0.674123437688	0.59625	0.331592530012	0.15175	T	0.310985	0.68290	T	-0.30294	0.08386	T	-0.284633	0.46328	T	0.062564495471079	0.07567	T	0.971803	0.89778	D	0.30336052	0.53204	0.26478866	0.52303	0.30336052	0.53204	0.26478866	0.52302	-9.136	0.68568	D	0.6552753228967908	0.72798	0.141	0.31023	B	.	.	3.263963	0.44646	22.0	0.99633316047666143	0.76203	0.81657	0.41017	D	AEFGBI	0.375907	0.46026	N	0.263913042730704	0.54332	3.598887	0.111475274824766	0.45135	2.782076	0.99251740830081	0.32867	0.487112	0.14033	0	0.573888	0.26702	0	0.578056	0.29568	0	0.613276	0.41899	0	.	.	4.81	2.98	0.33575	0.724000	0.25624	5.701000	0.49379	-0.171000	0.11205	0.891000	0.31220	1.000000	0.68203	0.006000	0.07323	0.0:0.3891:0.6109:0.0	15.6	0.76362	929	0.16858	.	.	.	.	.	.	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	0.04762	3458.11	33	chr5	1221218	.	G	A	3458.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.12;DP=1029;ExcessHet=0.1072;FS=3.310;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=12.71;ReadPosRankSum=2.07;SOR=0.795	GT:AD:DP:GQ:PL	0/1:54,65:119:99:1668,0,1276	19	0	2	0
chr5	9054122	9054122	G	A	exonic	SEMA5A	.	nonsynonymous SNV	SEMA5A:NM_003966:exon19:c.C2654T:p.T885I,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	D	1.0	D	0.995	D	0.000	D	1.000	D	1	L	0.62	T	-0.737	T	0.221	T	0.803	4.674	25.8	5.59	2.793	9.353	17.449	0.436	0.0275185815176	.	.	.	.	.	.	.	.	.	.	.	.	.	rs976131455	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.572e-06	6.566e-06	0	1.346e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.172	0.22660	T	0.052	0.47581	T	1.0	0.90584	D	0.995	0.83170	D	0.000000	0.84330	D	0.000000	1	0.81001	D	0.94	0.23649	L	0.62	0.53302	T	-3.08	0.63323	D	0.896	0.89577	-0.7365	0.58632	T	0.221	0.58459	T	10	0.84380054	0.83540	D	0.027519	0.50320	D	0.436	0.74093	0.493	0.58048	0.787995792498	0.78603	0.4452405969104464	0.44442	1.1161536407	0.78175	0.865262031555	0.91885	D	0.339289	0.70845	T	0.124056	0.66777	D	-0.0595788	0.66362	T	0.980482459068298	0.73384	D	0.827017	0.49049	T	0.29226592	0.52203	0.24130934	0.49526	0.29226592	0.52203	0.24130934	0.49525	-8.063	0.61499	D	.	.	0.633	0.70247	P	.	.	4.866842	0.79695	27.2	0.99881580555215566	0.95733	0.99010	0.89916	D	AEFBI	0.889899	0.82442	D	0.756566811027686	0.83333	7.98988	0.787497486132696	0.88911	9.763551	0.999999999999937	0.74766	0.615465	0.37627	0	0.588015	0.36545	0	0.658983	0.55881	0	0.613276	0.41899	0	.	.	5.59	5.59	0.84677	9.500000	0.96964	11.602000	0.93483	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.975000	0.56047	0.0:0.0:1.0:0.0	17.449	0.87480	833	0.38804	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	790.98	34	chr5	9054122	.	G	A	790.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.588e+00;DP=756;ExcessHet=0.0000;FS=1.124;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.92;ReadPosRankSum=0.763;SOR=0.479	GT:AD:DP:GQ:PL	0/1:23,30:53:99:805,0,637	20	0	1	0
chr5	16481072	16481072	C	T	exonic	RETREG1	.	nonsynonymous SNV	RETREG1:NM_019000:exon3:c.G184A:p.V62M	Neuropathy, hereditary sensory and autonomic, type IIB, Autosomal recessive	.	1	1502	19	0	0	19	0.00628515	.	.	244479	Inborn_genetic_diseases|Neuropathy,_hereditary_sensory_and_autonomic,_type_2B|not_provided	MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0013142,MedGen:C2751092,OMIM:613115,Orphanet:970|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.1	T	0.999	D	0.981	D	0.000	D	0.964	D	0.695	N	0.83	T	-0.768	T	0.178	T	0.21	3.397	17.47	5.08	1.520	0.217	12.951	0.170	.	0.0033	0.00159744	0.0033	0.0009	0.0051	0	0.0018	0.0042	0.0045	0.0023	0.0034411	532	154602	rs143878016	0.0048	0.0048	0.0049	0.0047	0.0055	0.0047	0.0046	0.0054	0.0053	0.0008	0.0032	0.0004	0	0.0031	0.0024	0.0055	0.0045	0.0029	0.0030	0.0030	0.0031	0.0028	0.0050	0.0027	0.0027	0.0045	0.0044	0.0007	0	0.0033	0.0006	0	0.0015	0.0034	0.0050	0.0019	0.0027	0.066	0.36113	T	0.109	0.37449	T	0.996	0.77913	D	0.923	0.75168	D	0.000098	0.51296	D	0.135280	0.963721	0.38365	D	.	.	.	0.74	0.50459	T	-1.19	0.30346	N	0.267	0.30233	-0.7685	0.56940	T	0.178	0.52412	T	10	0.011584997	0.00253	T	.	.	.	0.170	0.43303	.	.	0.472023113445	0.46832	0.4008687952848419	0.40001	1.01671924767	0.74975	0.599503755569	0.52834	T	0.022619	0.17407	T	-0.518749	0.00447	T	-0.514616	0.20843	T	0.0150975185188845	0.00327	T	0.919808	0.70989	D	0.12491093	0.29296	0.14568304	0.34542	0.14728221	0.33676	0.16377048	0.37972	-7.131	0.54984	T	0.3694394751555748	0.46511	0.132	0.36455	B	.;.	.;.	3.980073	0.58499	24.0	0.99853363774972514	0.93279	0.31720	0.24408	N	AEFDGBI	0.162037	0.28817	N	0.229326786743082	0.52624	3.435491	0.225926690679091	0.51292	3.312884	0.999990147161625	0.74766	0.553676	0.25195	0	0.588015	0.36545	0	0.618467	0.43123	0	0.586402	0.36253	0	.	.	5.95	5.08	0.68373	0.214000	0.17331	4.055000	0.41540	0.599000	0.40250	0.097000	0.22731	0.999000	0.35428	0.997000	0.79791	0.0:0.8662:0.0:0.1338	12.951	0.57797	697	0.58201	.;.	.	.	.	.	.	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	0.04762	2016.11	41	chr5	16481072	.	C	T	2016.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-5.620e-01;DP=875;ExcessHet=0.1072;FS=0.000;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=11.65;ReadPosRankSum=0.758;SOR=0.725	GT:AD:DP:GQ:PL	0/1:48,34:82:99:792,0,1256	19	0	2	0
chr5	35654710	35654710	C	T	exonic	SPEF2	.	nonsynonymous SNV	SPEF2:NM_024867:exon7:c.C962T:p.A321V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	1.0	D	0.994	D	0.000	D	1.000	D	1.74	L	2.25	T	-1.102	T	0.100	T	0.71	4.720	26.3	5.42	2.704	3.623	15.111	0.127	0.029998944285	.	.	8.378e-06	0	0	0	0	1.512e-05	0	0	1.29e-05	2	154602	rs201211066	3.578e-05	3.625e-05	4.38e-05	2.767e-05	0.0037	2.778e-05	2.516e-05	0.0025	0.0021	0	0	0.0007	0	0	0.0037	4.504e-06	0.0001	0	4.604e-05	4.598e-05	5.142e-05	4.041e-05	.	2.111e-05	1.528e-05	.	.	0	0	0	0.0014	0	0	0	0	0.0010	0	0.003	0.68238	D	0.01	0.67890	D	1.0	0.90584	D	0.976	0.82059	D	0.000000	0.84330	D	0.000000	0.99696	0.43535	D	2.72	0.79541	M	2.25	0.17761	T	-3.56	0.68880	D	0.494	0.55193	-1.1024	0.03813	T	0.100	0.37290	T	10	0.18849248	0.34407	T	0.029999	0.52399	D	0.127	0.34888	0.249	0.18602	0.744421343069	0.74212	0.2626146049587347	0.26174	0.231603588215	0.25714	0.700866937637	0.67268	T	0.182767	0.68672	T	0.0167154	0.53937	T	-0.213766	0.53335	T	0.937848031520844	0.60797	D	0.888711	0.61924	D	0.47023186	0.65304	0.5109304	0.71738	0.47023186	0.65305	0.5109304	0.71739	-11.055	0.79959	D	.	.	0.365	0.66876	A	.;.;.;.;.	.;.;.;.;.	4.806150	0.78137	26.8	0.99932648458003792	0.99439	0.96157	0.67794	D	AEFI	0.509968	0.53921	D	0.691130525341345	0.79050	6.996847	0.684415032730814	0.81195	7.470381	0.999903038425471	0.45458	0.554377	0.28877	0	0.547309	0.14657	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	5.42	5.42	0.78666	3.546000	0.53409	7.687000	0.65600	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.8589:0.1411:0.0	15.111	0.72032	580	0.69689	.;.;.;.;.	.	.	.	.	.	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	362.98	27	chr5	35654710	.	C	T	362.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.53;DP=643;ExcessHet=0.0000;FS=1.775;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.52;ReadPosRankSum=-1.041e+00;SOR=1.352	GT:AD:DP:GQ:PL	0/1:17,12:29:99:377,0,479	20	0	1	0
chr5	36976312	36976312	G	C	exonic	NIPBL	.	nonsynonymous SNV	NIPBL:NM_015384:exon9:c.G1405C:p.V469L	Cornelia de Lange syndrome 1, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.24	T	0.073	B	0.025	B	0.000	D	1.000	D	0.695	N	-3.35	D	0.043	D	0.661	D	0.555	3.882	19.73	5.58	2.641	9.439	19.567	0.343	0.0406808251233	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	3.42e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	6.578e-06	6.568e-06	1.286e-05	0	2.417e-05	0	0	.	.	2.417e-05	0	0	0	0	0	0	0	0	0	0.011	0.55530	D	0.283	0.36365	T	0.043	0.24078	B	0.011	0.20508	B	0.000063	0.52346	D	0.128294	0.999708	0.48408	D	1.61	0.41143	L	-3.35	0.94022	D	-0.52	0.16187	N	0.585	0.60579	0.043	0.83110	D	0.661	0.88235	D	10	0.32050586	0.49425	T	0.040681	0.59509	D	0.343	0.66488	0.25	0.18757	0.879801803537	0.87862	0.410959878834727	0.41011	0.237173385282	0.26261	0.753291904926	0.74932	T	0.18814	0.54196	T	0.196373	0.73552	D	0.0442995	0.73208	D	0.69907339231432	0.40675	D	0.947805	0.79866	D	0.13591537	0.31528	0.17231335	0.39477	0.13591537	0.31527	0.17231335	0.39476	-4.229	0.27169	T	.	.	0.624	0.70897	P	.;.	.;.	4.008901	0.59128	24.1	0.99731517772583023	0.82833	0.99456	0.96256	D	AEFBI	0.873692	0.79619	D	0.100524658377244	0.46485	2.888287	0.32136463555838	0.56798	3.843655	0.999999999999868	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.608884	0.39905	0	0.714379	0.83352	0	.	.	5.58	5.58	0.84361	9.567000	0.97303	11.883000	0.98886	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:1.0:0.0	19.567	0.95391	130	0.94779	.;.	.	.	.	.	.	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	0.3333	663.75	81	chr5	36976312	.	G	C	663.75	.	AC=8;AF=0.333;AN=24;BaseQRankSum=-3.011e+00;DP=2556;ExcessHet=3.5521;FS=235.068;InbreedingCoeff=-0.4165;MLEAC=11;MLEAF=0.458;MQ=60.00;MQRankSum=0.00;QD=0.62;ReadPosRankSum=0.981;SOR=11.906	GT:AD:DP:GQ:PL	0/1:75,25:100:42:42,0,1528	4	0	8	9
chr5	66054451	66054451	C	T	exonic	ERBIN	.	nonsynonymous SNV	ERBIN:NM_001006600:exon21:c.C3133T:p.H1045Y	.	.	436	1046	39	1	0	41	0.0192218	.	.	699142	ERBIN-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.95	T	0.556	P	0.409	B	0.000	D	1.000	D	1.32	L	1.59	T	-1.082	T	0.057	T	0.293	0.630	7.385	3.8	1.311	4.381	11.158	0.036	.	0.0055	0.00319489	0.0071	0.0012	0.0034	0.0001	0.0201	0.0092	0.0143	0.0025	0.0069275	1071	154602	rs142496054	0.0080	0.0080	0.0081	0.0080	0.0130	0.0079	0.0079	0.0106	0.0098	0.0014	0.0049	0.0027	2.519e-05	0.0182	0.0130	0.0086	0.0075	0.0041	0.0070	0.0070	0.0063	0.0077	0.0103	0.0067	0.0065	0.0090	0.0085	0.0011	0.0011	0.0103	0.0029	0.0004	0.0205	0.0102	0.0087	0.0076	0.0041	0.202	0.26192	T	0.936	0.02725	T	0.001	0.38076	B	0.001	0.44752	B	0.000430	0.44522	D	0.233896	0.968849	0.81001	D	.	.	.	1.4	0.37230	T	-1.06	0.27669	N	0.21	0.34767	-1.0818	0.07003	T	0.057	0.23904	T	10	0.0052889585	0.00116	T	.	.	.	0.036	0.09122	.	.	0.043077524339	0.03247	0.23617138195608345	0.23532	0.17845421502	0.20078	0.520014822483	0.41629	T	0.026122	0.19398	T	-0.44926	0.01141	T	-0.408712	0.32375	T	0.0327549083695503	0.02430	T	0.949755	0.80719	D	0.059305694	0.12037	0.077869184	0.17388	0.059305694	0.12036	0.077869184	0.17387	-3.511	0.24236	T	.	.	0.121	0.33573	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	3.045860	0.40854	21.2	0.95663696698175138	0.27496	0.97922	0.78147	D	AEFBI	0.701588	0.65823	D	-0.105461591648689	0.37153	2.157553	0.0248738627495247	0.40873	2.446292	0.999440304113357	0.39736	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.67	3.8	0.42887	4.455000	0.59813	4.017000	0.41215	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.962000	0.52141	0.134:0.7981:0.0:0.0679	11.158	0.47723	804	0.43891	.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1986.98	34	chr5	66054451	.	C	T	1986.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.206e+00;DP=877;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.42;ReadPosRankSum=-6.000e-02;SOR=0.743	GT:AD:DP:GQ:PL	0/1:80,80:160:99:2001,0,2126	20	0	1	0
chr5	73173564	73173564	G	T	exonic	TMEM174	.	nonsynonymous SNV	TMEM174:NM_153217:exon1:c.G321T:p.R107S,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.12	T	0.822	P	0.359	B	0.000	D	1.000	N	0.345	N	.	.	-1.061	T	0.041	T	0.706	2.449	14.15	4.98	2.865	1.588	5.839	0.172	0.00367737515527	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.84e-07	6.84e-07	1.361e-06	0	1.159e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.159e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.088	0.32296	T	0.294	0.20745	T	0.822	0.45767	P	0.359	0.43123	B	0.000256	0.46924	D	0.221657	0.999998	0.08975	N	2.52	0.73523	M	.	.	.	-3.13	0.63901	D	0.212	0.23632	-1.0609	0.11532	T	0.041	0.17785	T	9	0.1558232	0.29360	T	0.003677	0.08496	T	0.172	0.43662	0.213	0.13210	0.139678290688	0.13603	0.4921291101683583	0.49133	0.17236822049	0.19412	0.426930189133	0.28789	T	0.074841	0.35035	T	0.132964	0.67650	D	-0.0467823	0.67242	D	0.983986973762512	0.75452	D	0.644736	0.25622	T	0.23104158	0.45870	0.26167688	0.51949	0.23104158	0.45870	0.26167688	0.51948	-2.774	0.07946	T	.	.	0.195	0.41618	B	.	.	3.022840	0.40463	21.2	0.99590880954807703	0.73572	0.51474	0.28904	D	AEFBI	0.196723	0.32368	N	0.153552515236288	0.48981	3.103689	0.252081064575325	0.52767	3.449451	0.24526048276675	0.18618	0.446893	0.09132	0	0.563428	0.19063	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	6.02	4.98	0.65679	1.630000	0.36693	4.435000	0.43365	0.676000	0.76740	0.965000	0.33920	1.000000	0.68203	0.408000	0.26961	0.1092:0.1304:0.6265:0.1338	5.839	0.17878	798	0.45050	.	.	.	.	.	.	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	2188.98	33	chr5	73173564	.	G	T	2188.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.787;DP=887;ExcessHet=0.0000;FS=6.155;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.34;ReadPosRankSum=0.548;SOR=1.127	GT:AD:DP:GQ:PL	0/1:111,82:193:99:2203,0,3024	20	0	1	0
chr5	75118147	75118147	C	T	exonic	ANKRD31	.	nonsynonymous SNV	ANKRD31:NM_001164443:exon17:c.G3856A:p.A1286T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.17	T	.	.	.	.	.	.	1.000	N	1.61	L	0.2	T	-0.940	T	0.156	T	0.235	0.796	8.189	1.24	0.112	0.067	2.682	0.030	0.0170466889119	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.049	0.39820	D	0.549	0.09522	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	1.79	0.46772	L	0.2	0.60111	T	-0.84	0.22944	N	0.2	0.22098	-0.9397	0.42664	T	0.156	0.48807	T	7	0.075415164	0.11654	T	0.017047	0.38587	T	0.030	0.07022	0.41	0.44559	0.16115917748	0.15686	0.059974397443567196	0.05937	.	.	0.255921125412	0.04417	T	0.001413	0.00874	T	-0.16856	0.25451	T	-0.479901	0.24457	T	0.102390711655354	0.12618	T	0.70163	0.31127	T	0.029978456	0.02583	0.05316264	0.08901	0.029978456	0.02582	0.05316264	0.08900	-2.696	0.07269	T	.	.	0.069	0.06756	B	.;.	.;.	0.698953	0.10679	7.373	0.95966972190481337	0.28317	0.01759	0.05532	N	AEFI	0.046822	0.07819	N	-0.47004577047244	0.23065	1.236072	-0.603180281463711	0.19411	1.041312	5.72977320847864E-5	0.04171	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.27	1.24	0.20416	0.071000	0.14461	0.026000	0.13662	0.539000	0.25131	0.000000	0.06391	0.000000	0.08366	0.871000	0.41478	0.1963:0.5195:0.1761:0.108	2.682	0.04781	806	0.43582	.;.	.	.	.	.	.	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	0.025	40.33	33	chr5	75118147	.	C	T	40.33	.	AC=1;AF=0.025;AN=40;BaseQRankSum=-4.199e+00;DP=1237;ExcessHet=0.0000;FS=133.562;InbreedingCoeff=-0.0370;MLEAC=1;MLEAF=0.025;MQ=60.00;MQRankSum=0.00;QD=0.25;ReadPosRankSum=0.757;SOR=7.701	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:132,27:159:54:.:.:54,0,2651	19	0	1	1
chr5	78128116	78128116	T	C	exonic	AP3B1	.	nonsynonymous SNV	AP3B1:NM_001271769:exon17:c.A1735G:p.I579V	Hermansky-Pudlak syndrome 2, Autosomal recessive	.	0	1521	1	0	0	1	0.000328623	.	.	1976622	Hermansky-Pudlak_syndrome_2	MONDO:MONDO:0011997,MedGen:C1842362,OMIM:608233,Orphanet:183678,Orphanet:79430	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.48	T	0.004	B	0.012	B	0.351	N	1.000	N	1.245	L	0.56	T	-1.010	T	0.107	T	0.067	-1.350	0.029	0.574	-0.112	0.264	10.022	0.034	0.0104484326169	.	.	4.133e-05	0	0	0	0	7.512e-05	0	0	3.23e-05	5	154602	rs767098447	2.739e-05	2.736e-05	2.316e-05	3.165e-05	0.0002	2.064e-05	1.817e-05	2.287e-05	2.024e-05	0	4.475e-05	0	0	0	0.0002	3.15e-05	3.313e-05	0	6.574e-06	6.567e-06	0	1.346e-05	1.471e-05	0	0	.	.	0	0	0	0	0	0	0	1.471e-05	0	0	0.825	0.02958	T	0.305	0.20745	T	0.004	0.12183	B	0.012	0.16012	B	0.350769	0.13819	N	0.733424	0.999639	0.20820	N	1.04	0.26193	L	0.56	0.54540	T	0.27	0.04613	N	0.114	0.12627	-1.0100	0.26917	T	0.107	0.38931	T	10	0.07240075	0.10801	T	0.010448	0.27001	T	0.034	0.08419	0.332	0.31843	0.182106788282	0.17826	0.122787087716229	0.12204	0.0386119874537	0.04107	0.27877920866	0.07323	T	0.210522	0.57104	T	-0.388182	0.02763	T	-0.615077	0.11577	T	0.0141211189329624	0.00276	T	0.711729	0.32279	T	0.02085421	0.00660	0.02289417	0.00307	0.02085421	0.00659	0.02289417	0.00307	-1.584	0.01945	T	.	.	0.062	0.02829	B	.;.	.;.	1.056537	0.14379	10.96	0.66228512688120711	0.07997	0.61273	0.31437	D	AEDGBHCI	0.120988	0.23543	N	-0.659860303378277	0.17174	0.881468	-0.521036399242187	0.21581	1.168207	0.198975897705448	0.18098	0.743674	0.98306	0	0.630245	0.54622	0	0.630245	0.45026	0	0.584449	0.35598	0	.	.	5.81	0.574	0.16553	0.266000	0.18300	0.187000	0.15699	-0.133000	0.13014	0.960000	0.33603	0.989000	0.31174	0.980000	0.58198	0.0:0.2544:0.0:0.7456	10.022	0.41218	893	0.26510	.;.	.	.	.	.	.	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	781.98	33	chr5	78128116	.	T	C	781.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.312e+00;DP=759;ExcessHet=0.0000;FS=3.214;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.01;ReadPosRankSum=2.44;SOR=0.388	GT:AD:DP:GQ:PL	0/1:36,35:71:99:796,0,914	20	0	1	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	0/2:37,0,62,0:99:99:2334,2446,3952,0,1507,1318,2446,3952,1507,3952	7	0	1	0
chr5	96762275	96762275	A	G	exonic	CAST	.	nonsynonymous SNV	CAST:NM_001042446:exon20:c.A1424G:p.K475R	Peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads, Autosomal recessive	.	424	1095	3	0	0	3	0.00136799	0.0018	0.2	721602	not_provided|CAST-related_disorder	MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.27	T	0.693	P	0.32	B	0.673	N	1.000	N	1.815	L	2.06	T	-1.027	T	0.060	T	0.164	2.594	14.63	1.79	0.382	1.635	4.700	0.020	.	0.0059	0.0071885	0.0022	0.0204	0.0011	0.0001	0	0.0002	0	0.0020	0.0019534	302	154602	rs61744247	0.0008	0.0009	0.0008	0.0009	0.0214	0.0008	0.0008	0.0201	0.0195	0.0214	0.0012	0	0.0001	0	0.0045	0.0001	0.0018	0.0024	0.0060	0.0060	0.0062	0.0058	0.0200	0.0057	0.0056	0.0188	0.0184	0.0200	0	0.0029	0	0.0006	0	0.0068	0.0002	0.0038	0.0027	0.134	0.31987	T	0.257	0.23914	T	0.2	0.35666	B	0.167	0.38314	B	0.673072	0.10324	N	0.854789	0.999967	0.21065	N	2.74	0.80084	M	2.06	0.20523	T	-0.89	0.25118	N	0.096	0.14196	-1.0273	0.21331	T	0.060	0.25163	T	10	0.004529983	0.00094	T	.	.	.	0.020	0.03691	.	.	0.490631539035	0.48696	0.05203074146582141	0.05145	0.0683638955007	0.07654	0.314613997936	0.12605	T	0.144704	0.48147	T	-0.516137	0.00463	T	-0.498576	0.22495	T	0.0195082727042479	0.00655	T	0.957071	0.83814	D	0.036668483	0.04556	0.039657358	0.04108	0.037605114	0.04852	0.041934803	0.04880	-4.684	0.35008	T	.	.	0.087	0.13923	B	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	3.570082	0.50282	22.9	0.99597617678120132	0.73983	0.28540	0.23582	N	AEFBI	0.183457	0.31078	N	-0.0297264364060262	0.40512	2.407171	-0.232657051890351	0.30373	1.709603	0.988995492418459	0.31691	0.732398	0.92422	0	0.743671	0.97443	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	4.32	1.79	0.23992	1.723000	0.37675	3.288000	0.37283	0.756000	0.94297	0.547000	0.27322	0.880000	0.27694	0.726000	0.34967	0.7073:0.1917:0.101:0.0	4.700	0.12201	885	0.28214	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	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	460.98	33	chr5	96762275	.	A	G	460.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.782;DP=736;ExcessHet=0.0000;FS=2.336;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.09;ReadPosRankSum=-8.520e-01;SOR=1.051	GT:AD:DP:GQ:PL	0/1:36,21:57:99:475,0,865	20	0	1	0
chr5	96776478	96776478	A	G	exonic	ERAP1	.	nonsynonymous SNV	ERAP1:NM_001040458:exon19:c.T2744C:p.I915T	.	.	423	1096	3	0	0	3	0.00136674	.	.	699220	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.12	T	0.998	D	0.971	D	0.000	N	1.000	D	2.62	M	3.05	T	-1.129	T	0.059	T	0.969	4.543	24.5	5.97	2.288	8.627	16.122	0.555	.	0.0022	0.00219649	0.0008	0.0057	0.0005	0.0001	0	0.0002	0	0.0012	0.0007697	119	154602	rs139576768	0.0005	0.0005	0.0004	0.0005	0.0065	0.0005	0.0004	0.0058	0.0055	0.0065	0.0006	0	0.0002	0	0.0040	0.0002	0.0012	0.0018	0.0018	0.0018	0.0017	0.0019	0.0053	0.0016	0.0015	0.0048	0.0045	0.0053	0	0.0012	0	0.0006	0	0.0068	0.0002	0.0014	0.0019	0.001	0.78490	D	0.001	0.83351	D	0.994	0.73220	D	0.951	0.72444	D	0.000000	0.84330	N	0.048031	1	0.81001	D	3.065	0.87014	M	3.05	0.08721	T	-4.14	0.75220	D	0.901	0.90138	-1.1285	0.01855	T	0.059	0.24797	T	10	0.02996838	0.01123	T	.	.	.	0.555	0.81659	.	.	0.346544149963	0.34258	0.5907754780731668	0.59007	0.479642199148	0.46996	0.639778673649	0.58532	T	0.149916	0.48915	T	-0.0774476	0.40129	T	0.117342	0.78059	D	0.0422725805326425	0.04105	T	0.923008	0.71997	D	0.8191324	0.85162	0.7728967	0.86596	0.8191324	0.85163	0.7728967	0.86597	-7.14	0.55049	T	.	.	0.217	0.44732	B	.;.	.;.	5.037229	0.83818	28.1	0.99872006913377842	0.94989	0.96906	0.71586	D	AEFBCI	0.887153	0.81917	D	0.868011009697754	0.90109	10.25654	0.852794407607668	0.93178	11.87404	0.999999999964948	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	5.97	5.97	0.96935	8.799000	0.91516	11.224000	0.89870	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	1.0:0.0:0.0:0.0	16.122	0.81179	896	0.25515	.;ERAP1-like C-terminal domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1146.98	45	chr5	96776478	.	A	G	1146.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-8.570e-01;DP=897;ExcessHet=0.0000;FS=3.683;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.24;ReadPosRankSum=-6.920e-01;SOR=1.085	GT:AD:DP:GQ:PL	0/1:55,47:102:99:1161,0,1499	20	0	1	0
chr5	112184020	112184020	G	A	exonic	EPB41L4A	.	nonsynonymous SNV	EPB41L4A:NM_001347887:exon18:c.C1618T:p.R540C	.	.	442	1079	1	0	0	1	0.000463177	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.998	D	0.000	D	1.000	D	2.175	M	-2.22	D	0.649	D	0.796	D	0.771	4.989	29.2	6.17	2.941	4.442	20.879	0.411	0.0401263078358	.	.	2.484e-05	0	0	0	0	2.997e-05	0	6.056e-05	1.94e-05	3	154602	rs774150056	1.231e-05	1.3e-05	1.225e-05	1.238e-05	2.319e-05	7.7e-06	6.35e-06	8.1e-06	6.42e-06	0	0	0	0	0	0	1.349e-05	1.656e-05	2.319e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.003	0.76473	D	1.0	0.90584	D	0.959	0.70163	D	0.000000	0.84330	D	0.000000	1	0.81001	D	1.935	0.51832	L	-2.22	0.87038	D	-4.95	0.81910	D	0.601	0.61933	0.649	0.92536	D	0.796	0.93093	D	10	0.62351626	0.68112	D	0.040126	0.59201	D	0.411	0.72252	0.191	0.10171	0.979847671423	0.97962	0.6150014543589497	0.61432	0.308381427564	0.33150	0.772473275661	0.77795	T	0.11812	0.43870	T	0.192584	0.73203	D	0.135711	0.79265	D	0.995676934719086	0.87860	D	0.964704	0.86917	D	0.6407324	0.74870	0.6044237	0.77008	0.6407324	0.74871	0.6044237	0.77009	-9.468	0.70660	D	0.7285667969946116	0.81014	0.698	0.76906	P	.;.	.;.	5.979656	0.94247	34	0.99937808677461515	0.99698	0.93957	0.59684	D	AEFBI	0.773647	0.70759	D	0.817962293570951	0.87216	9.141878	0.819262695834885	0.91100	10.71837	0.999999999999897	0.74766	0.706298	0.61202	0	0.59043	0.45803	0	0.658983	0.55881	0	0.613276	0.41899	0	.	.	6.17	6.17	0.99707	4.661000	0.61213	11.605000	0.93504	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:0.0:1.0:0.0	20.879	0.99870	316	0.87161	.;.	.	.	.	.	.	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	1516.98	36	chr5	112184020	.	G	A	1516.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.474;DP=859;ExcessHet=0.0000;FS=2.344;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.86;ReadPosRankSum=-1.290e-01;SOR=0.503	GT:AD:DP:GQ:PL	0/1:57,61:118:99:1531,0,1383	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	0/1:75,85,0,0:160:99:1952,0,1918,2177,2173,4349,2177,2173,4349,4349	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	0/1:50,54,0:104:99:2026,0,1853,2178,2016,4194	3	5	12	0
chr5	116015368	116015368	-	ATATATATATATATGGAACTAAGACTATTACTTTGGAAAAGACCTGTC	exonic	LVRN	.	stopgain	LVRN:NM_173800:exon17:c.2567_2568insATATATATATATATGGAACTAAGACTATTACTTTGGAAAAGACCTGTC:p.Q857_T990delinsYIYIWN,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0006	0.0003	0.0002	0.0004	0.0008	0.0003	0.0011	0.0022	3.84e-05	1	26028	rs760127445	0.0002	0.0007	0.0001	0.0004	0.0003	0.0002	0.0002	0.0002	0.0002	0.0001	0.0002	0.0001	0.0001	0.0003	0	0.0002	0.0003	0.0003	6.589e-06	0.0003	1.289e-05	0	1.476e-05	0	0	.	.	0	0	0	0	0	0	0	1.476e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.119	984.49	110	chr5	116015368	.	T	TATATATATATATATGGAAC,TATATATATATATATGGAACTAAGACTATTACTTTGGAAAAGACCTGTC,TATATATATATATATGGAACTAAGACTATTACTTTGGAAAAGACCTG,TATATATATATATATGGAACTAAGACTATTACTTTGGAAAAGACCTGTCTCACAGA	984.49	.	AC=1,1,2,1;AF=0.024,0.024,0.048,0.024;AN=42;BaseQRankSum=0.519;DP=1335;ExcessHet=1.1607;FS=35.459;InbreedingCoeff=-0.1351;MLEAC=1,1,2,1;MLEAF=0.024,0.024,0.048,0.024;MQ=60.00;MQRankSum=0.00;QD=2.10;ReadPosRankSum=-2.189e+00;SOR=4.917	GT:AD:DP:GQ:PGT:PID:PL:PS	0/4:84,0,0,0,9:93:99:.:.:115,378,3917,378,3917,3917,378,3917,3917,3917,0,3539,3539,3539,3512	16	0	1	0
chr5	116015368	116015368	-	ATATATATATATATGGAACTAAGACTATTACTTTGGAAAAGACCTG	exonic	LVRN	.	stopgain	LVRN:NM_173800:exon17:c.2567_2568insATATATATATATATGGAACTAAGACTATTACTTTGGAAAAGACCTG:p.Q857Yfs*7,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0006	0.0006	0.0003	0.0001	0.0003	0.0005	0	0.0021	3.84e-05	1	26028	rs760127445	0.0002	0.0006	0.0001	0.0003	0.0002	0.0002	0.0002	0.0002	0.0002	9.111e-05	0.0002	0.0001	0.0001	0.0006	0	0.0002	0.0002	0.0002	0.0001	0.0016	9.04e-05	0.0001	0.0002	7.612e-05	6.311e-05	0.0001	7.945e-05	4.827e-05	0	0	0	0.0002	0.0002	0	0.0002	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.119	984.49	110	chr5	116015368	.	T	TATATATATATATATGGAAC,TATATATATATATATGGAACTAAGACTATTACTTTGGAAAAGACCTGTC,TATATATATATATATGGAACTAAGACTATTACTTTGGAAAAGACCTG,TATATATATATATATGGAACTAAGACTATTACTTTGGAAAAGACCTGTCTCACAGA	984.49	.	AC=1,1,2,1;AF=0.024,0.024,0.048,0.024;AN=42;BaseQRankSum=0.519;DP=1335;ExcessHet=1.1607;FS=35.459;InbreedingCoeff=-0.1351;MLEAC=1,1,2,1;MLEAF=0.024,0.024,0.048,0.024;MQ=60.00;MQRankSum=0.00;QD=2.10;ReadPosRankSum=-2.189e+00;SOR=4.917	GT:AD:DP:GQ:PGT:PID:PL:PS	0/4:84,0,0,0,9:93:99:.:.:115,378,3917,378,3917,3917,378,3917,3917,3917,0,3539,3539,3539,3512	16	0	1	0
chr5	116015368	116015368	-	ATATATATATATATGGAACTAAGACTATTACTTTGGAAAAGACCTGTCTCACAGA	exonic	LVRN	.	stopgain	LVRN:NM_173800:exon17:c.2567_2568insATATATATATATATGGAACTAAGACTATTACTTTGGAAAAGACCTGTCTCACAGA:p.Q857Yfs*7,	.	.	435	1072	3	0	12	15	0.0013973	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.857e-05	8.687e-05	1.94e-05	3.786e-05	0.0002	2.126e-05	1.913e-05	9.71e-06	7.73e-06	0	2.327e-05	0	0	0.0003	0.0002	1.552e-05	1.684e-05	3.656e-05	6.593e-06	0.0002	0	1.35e-05	1.475e-05	0	0	.	.	0	0	0	0	0	0	0	1.475e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.119	984.49	110	chr5	116015368	.	T	TATATATATATATATGGAAC,TATATATATATATATGGAACTAAGACTATTACTTTGGAAAAGACCTGTC,TATATATATATATATGGAACTAAGACTATTACTTTGGAAAAGACCTG,TATATATATATATATGGAACTAAGACTATTACTTTGGAAAAGACCTGTCTCACAGA	984.49	.	AC=1,1,2,1;AF=0.024,0.024,0.048,0.024;AN=42;BaseQRankSum=0.519;DP=1335;ExcessHet=1.1607;FS=35.459;InbreedingCoeff=-0.1351;MLEAC=1,1,2,1;MLEAF=0.024,0.024,0.048,0.024;MQ=60.00;MQRankSum=0.00;QD=2.10;ReadPosRankSum=-2.189e+00;SOR=4.917	GT:AD:DP:GQ:PGT:PID:PL:PS	0/4:84,0,0,0,9:93:99:.:.:115,378,3917,378,3917,3917,378,3917,3917,3917,0,3539,3539,3539,3512	16	0	1	0
chr5	119133212	119133212	A	C	exonic	DMXL1	.	nonsynonymous SNV	DMXL1:NM_001290321:exon11:c.A1396C:p.S466R	.	.	427	1067	28	0	0	28	0.012951	.	.	698741	DMXL1-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.45	T	0.49	P	0.157	B	0.003	N	0.840	D	1.04	L	0.84	T	-1.023	T	0.054	T	0.385	0.476	6.583	4.18	2.034	0.313	5.926	0.085	.	0.0031	0.00798722	0.0066	0.0007	0.0017	0	0.0068	0.0061	0.0088	0.0189	0.0060866	941	154602	rs142000355	0.0046	0.0046	0.0042	0.0050	0.0187	0.0045	0.0045	0.0179	0.0176	0.0009	0.0025	0.0169	5.039e-05	0.0055	0.0094	0.0034	0.0061	0.0187	0.0039	0.0039	0.0037	0.0041	0.0193	0.0037	0.0035	0.0161	0.0149	0.0006	0.0033	0.0034	0.0164	0	0.0048	0.0034	0.0045	0.0047	0.0193	0.078	0.33923	T	0.204	0.27235	T	0.019	0.36941	B	0.02	0.34536	B	0.003207	0.35270	N	0.354726	0.839989	0.35051	D	1.965	0.53209	M	0.84	0.47477	T	-2.2	0.49519	N	0.405	0.58968	-1.0226	0.22866	T	0.054	0.22997	T	10	0.0034649074	0.00061	T	.	.	.	0.085	0.24743	0.211	0.12923	0.316918214084	0.31302	0.26826068777558765	0.26739	0.0836088970448	0.09429	0.356339156628	0.18851	T	0.066931	0.33072	T	-0.442592	0.01249	T	-0.393592	0.34132	T	0.0104915088462671	0.00145	T	0.808019	0.46271	T	0.07245605	0.16118	0.08032456	0.18162	0.07245605	0.16118	0.08032456	0.18161	-6.054	0.46728	T	.	.	0.201	0.47557	B	.;.;.	.;.;.	2.234974	0.28534	17.83	0.95959325265076945	0.28295	0.43055	0.27014	N	AEFGBI	0.178236	0.30549	N	-0.44553844061359	0.23892	1.286213	-0.369960080323475	0.25897	1.42706	0.0185162500457033	0.13067	0.732398	0.92422	0	0.724815	0.89359	0	0.696353	0.63694	0	0.727631	0.95156	0	.	.	5.32	4.18	0.48473	0.514000	0.22492	2.835000	0.35045	0.691000	0.84096	0.632000	0.28016	1.000000	0.68203	0.100000	0.18284	0.7225:0.166:0.1115:0.0	5.926	0.18350	885	0.28214	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	3372.11	33	chr5	119133212	.	A	C	3372.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-2.613e+00;DP=938;ExcessHet=0.1072;FS=0.434;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=11.51;ReadPosRankSum=0.223;SOR=0.639	GT:AD:DP:GQ:PL	0/1:60,58:118:99:1352,0,1673	19	0	2	0
chr5	122152258	122152258	C	T	exonic	ZNF474	.	nonsynonymous SNV	ZNF474:NM_207317:exon2:c.C268T:p.R90C,	.	.	432	1088	2	0	0	2	0.000918274	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	1.0	D	0.991	D	0.004	N	0.999	D	1.1	L	0.73	T	-0.743	T	0.209	T	0.678	2.324	13.73	5.58	2.624	3.310	12.650	0.183	0.0418684860967	.	0.000199681	8.285e-06	0	0	0	0	1.508e-05	0	0	1.29e-05	2	154602	rs558433028	1.573e-05	1.642e-05	1.497e-05	1.65e-05	0.0003	1.048e-05	8.75e-06	6.092e-05	2.521e-05	0	6.708e-05	0	0	0	0.0003	9.892e-06	4.968e-05	4.637e-05	2.626e-05	2.625e-05	1.285e-05	4.028e-05	5.879e-05	8.14e-06	5.14e-06	1.972e-05	1.124e-05	0	0	0	0	0	0	0	5.879e-05	0	0	0.005	0.63226	D	0.002	0.79402	D	1.0	0.90584	D	0.991	0.79672	D	0.004370	0.33816	N	0.157757	0.999299	0.46578	D	2.295	0.65404	M	0.73	0.50721	T	-4.02	0.74269	D	0.441	0.47949	-0.7430	0.58298	T	0.209	0.56812	T	10	0.44152543	0.58131	T	0.041868	0.60158	D	0.183	0.45592	0.365	0.37199	0.499409231958	0.49576	0.10725904827885067	0.10654	0.0129424438378	0.01244	0.438391208649	0.30357	T	0.180599	0.53199	T	-0.0310588	0.47262	T	-0.199525	0.54691	T	0.973936796188354	0.70299	D	0.860614	0.55382	D	0.19077131	0.40677	0.12675768	0.30525	0.19077131	0.40677	0.12675768	0.30524	-7.707	0.59056	D	.	.	0.203	0.42820	B	.	.	4.479191	0.69875	25.4	0.99923594176797181	0.98917	0.96111	0.67583	D	AEFBI	0.539807	0.55663	D	0.475924502675399	0.65688	4.854004	0.4488905966875	0.64645	4.724534	0.999997983267208	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	5.58	5.58	0.84361	3.338000	0.51846	4.052000	0.41516	0.599000	0.40250	0.998000	0.41325	0.999000	0.35428	0.075000	0.16954	0.2765:0.7235:0.0:0.0	12.650	0.56119	563	0.71062	.	.	.	.	.	.	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	1059.98	34	chr5	122152258	.	C	T	1059.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.781;DP=800;ExcessHet=0.0000;FS=0.818;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.33;ReadPosRankSum=1.56;SOR=0.562	GT:AD:DP:GQ:PL	0/1:47,39:86:99:1074,0,1267	20	0	1	0
chr5	128288438	128288438	C	G	exonic	FBN2	.	nonsynonymous SNV	FBN2:NM_001999:exon53:c.G6757C:p.D2253H,	Contractural arachnodactyly, congenital, Autosomal dominant;Macular degeneration, early-onset, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	0/1:62,11:73:6:.:.:6,0,1697	1	0	11	9
chr5	139477338	139477338	C	T	exonic	STING1	.	nonsynonymous SNV	STING1:NM_001367258:exon6:c.G580A:p.A194T	.	.	414	1096	11	1	0	13	0.00589569	.	.	454711	Autoinflammatory_syndrome|STING-associated_vasculopathy_with_onset_in_infancy	MONDO:MONDO:0019751,MedGen:C3890737,Orphanet:93665|MONDO:MONDO:0014405,MedGen:C4014722,OMIM:615934,Orphanet:425120	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.2	T	0.01	B	0.022	B	0.008	N	0.972	N	-0.345	N	1.98	T	-1.042	T	0.013	T	0.083	2.246	13.47	4.69	1.347	1.971	13.806	0.034	.	0.0072	0.0071885	0.0034	0.0217	0.0050	0	0.0002	0.0017	0.0068	0.0009	0.0032341	500	154602	rs140837017	0.0018	0.0018	0.0018	0.0018	0.0210	0.0017	0.0017	0.0197	0.0192	0.0210	0.0056	0.0073	5.038e-05	0.0008	0.0126	0.0009	0.0047	0.0008	0.0073	0.0073	0.0075	0.0071	0.0210	0.0069	0.0068	0.0199	0.0194	0.0210	0	0.0053	0.0069	0	0.0010	0.0170	0.0014	0.0090	0.0006	0.159	0.23813	T	0.049	0.48336	D	0.01	0.15535	B	0.022	0.19653	B	0.007555	0.31331	N	0.300219	0.971651	0.25642	N	0.695	0.17993	N	1.98	0.21865	T	-0.29	0.11728	N	0.141	0.14054	-1.0424	0.16592	T	0.013	0.05273	T	10	0.008134723	0.00185	T	.	.	.	0.034	0.08419	.	.	0.21279746466	0.20884	.	.	0.459163806562	0.45510	0.412652820349	0.26824	T	0.068521	0.33479	T	-0.60233	0.00141	T	-0.621062	0.11103	T	0.0127627101656513	0.00216	T	0.763824	0.39073	T	0.19446239	0.41196	0.10928245	0.26337	0.199105	0.41838	0.12335547	0.29745	-3.148	0.11855	T	.	.	.	.	.	.	.	3.004454	0.40157	21.1	0.98898943137448703	0.48145	0.91275	0.53206	D	AEFGBI	0.371736	0.45764	N	-0.420852432444123	0.24740	1.337967	-0.218111754383128	0.30887	1.743001	0.999999942063062	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.547309	0.15389	0	0.714379	0.83352	0	.	.	5.56	4.69	0.58546	1.827000	0.38740	2.672000	0.33955	0.599000	0.40250	0.999000	0.42656	0.999000	0.35428	0.912000	0.44740	0.0:0.9254:0.0:0.0746	13.806	0.62727	245	0.90404	Stimulator of interferon genes protein, C-terminal	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1070.98	35	chr5	139477338	.	C	T	1070.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.038e+00;DP=776;ExcessHet=0.0000;FS=0.918;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.73;ReadPosRankSum=2.97;SOR=0.846	GT:AD:DP:GQ:PL	0/1:37,41:78:99:1085,0,1011	20	0	1	0
chr5	139887481	139887481	C	T	exonic	NRG2	.	nonsynonymous SNV	NRG2:NM_001184935:exon2:c.G731A:p.S244N	.	.	.	.	.	.	.	.	.	.	.	2325350	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.28	T	0.106	B	0.102	B	0.001	N	0.755	D	0.35	N	1.58	T	-1.019	T	0.045	T	0.06	3.188	16.67	5.29	2.473	2.054	10.020	0.031	0.00739077046255	.	.	8.286e-06	0	0	0	0	1.505e-05	0	0	6.5e-06	1	154602	rs774596341	1.371e-06	1.369e-06	1.365e-06	1.378e-06	1.804e-06	2.3e-07	9e-08	3e-07	1.1e-07	0	0	0	0	0	0	1.804e-06	0	0	6.59e-06	6.574e-06	0	1.35e-05	1.471e-05	0	0	.	.	0	0	0	0	0	0	0	1.471e-05	0	0	0.184	0.23360	T	0.164	0.31026	T	0.087	0.26037	B	0.062	0.30857	B	0.000522	0.43581	N	0.227934	0.755028	0.33972	D	0.135	0.08676	N	1.58	0.29085	T	-0.32	0.21003	N	0.423	0.46274	-1.0194	0.23910	T	0.045	0.19518	T	10	0.22371674	0.39157	T	0.007391	0.19603	T	0.031	0.07369	0.366	0.37361	0.498748557451	0.49510	0.4556412808571356	0.45482	0.884494878246	0.69920	0.694656133652	0.66374	T	0.195255	0.55127	T	-0.302609	0.08415	T	-0.672453	0.07451	T	0.361964405132886	0.27486	T	0.79652	0.44558	T	0.08836372	0.20609	0.102840796	0.24660	0.08836372	0.20609	0.102840796	0.24659	-7.518	0.70016	D	.	.	0.221	0.45409	B	.;.;.;.;.;.	.;.;.;.;.;.	3.573511	0.50344	22.9	0.99603636505572957	0.74338	0.69576	0.34242	D	AEFBI	0.254283	0.37363	N	-0.162749740398921	0.34693	1.983396	0.0478054099699094	0.41967	2.53021	0.600115135775481	0.21718	0.562547	0.31514	0	0.653731	0.59785	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	5.29	5.29	0.74430	2.879000	0.48220	5.991000	0.52331	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:0.9072:0.0:0.0928	10.020	0.41207	21	0.98493	Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype;.;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.2941	1317.98	74	chr5	139887481	.	C	T	1317.98	.	AC=10;AF=0.294;AN=34;BaseQRankSum=-4.144e+00;DP=2291;ExcessHet=6.1002;FS=235.435;InbreedingCoeff=-0.3991;MLEAC=11;MLEAF=0.324;MQ=60.00;MQRankSum=0.00;QD=1.13;ReadPosRankSum=0.733;SOR=11.408	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:96,41:137:99:0|1:139887481_C_T:339,0,2912:139887481	7	0	10	4
chr5	139887483	139887483	C	G	exonic	NRG2	.	nonsynonymous SNV	NRG2:NM_001184935:exon2:c.G729C:p.K243N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.928	P	0.653	P	0.001	D	0.844	D	1.37	L	-0.42	T	-0.572	T	0.250	T	0.143	3.573	18.21	1.49	-0.008	0.043	8.579	0.129	0.0404591134086	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.845e-07	0.0001	0	1.376e-06	8.999e-07	0	0	.	.	0	0	0	0	0	0	8.999e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	0.61437	D	0.159	0.58089	T	0.355	0.51611	B	0.285	0.52567	B	0.000553	0.43413	D	0.190992	0.843543	0.35106	D	0.855	0.21307	L	-0.42	0.69536	T	-2.26	0.50502	N	0.611	0.62781	-0.5718	0.65943	T	0.250	0.61993	T	10	0.51356286	0.62236	D	0.040459	0.59387	D	0.129	0.35316	0.432	0.48171	0.770213433332	0.76810	0.7045747211234696	0.70399	1.82077106802	0.91947	0.807813405991	0.83157	D	0.308239	0.68034	T	-0.142554	0.29486	T	-0.442546	0.28523	T	0.832137286663055	0.48697	D	0.877812	0.59215	D	0.16882665	0.37363	0.1489359	0.35185	0.16882665	0.37363	0.1489359	0.35184	-8.046	0.70185	D	.	.	0.798	0.86783	P	.;.;.;.;.;.	.;.;.;.;.;.	3.258046	0.44540	22.0	0.99831464818289628	0.91284	0.76178	0.37342	D	AEFBI	0.317848	0.42172	N	-0.0410797527166822	0.40002	2.368239	-0.0277489813419687	0.38467	2.266707	0.00604997340288372	0.11113	0.562547	0.31514	0	0.653731	0.59785	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	5.29	1.49	0.21966	0.199000	0.17037	0.102000	0.14662	-0.182000	0.10109	0.995000	0.38783	0.922000	0.28345	0.994000	0.71098	0.0:0.6914:0.0:0.3086	8.579	0.32777	21	0.98493	Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype;.;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2632	1380.18	70	chr5	139887483	.	C	G,T	1380.18	.	AC=7,3;AF=0.184,0.079;AN=38;BaseQRankSum=-4.039e+00;DP=2146;ExcessHet=6.1002;FS=245.753;InbreedingCoeff=-0.3923;MLEAC=8,3;MLEAF=0.211,0.079;MQ=60.00;MQRankSum=0.00;QD=1.17;ReadPosRankSum=0.802;SOR=11.291	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:96,0,41:137:99:0|1:139887481_C_T:339,625,3652,0,3027,2912:139887481	9	0	7	2
chr5	141096081	141096081	C	A	exonic	PCDHB2	.	nonsynonymous SNV	PCDHB2:NM_018936:exon1:c.C1291A:p.P431T,	.	.	407	1061	53	1	0	55	0.0252641	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.999	D	.	.	0.998	D	4.155	H	0.47	T	0.210	D	0.416	T	0.73	2.250	13.48	5.11	2.542	2.396	14.595	0.365	.	0.0038	0.00958466	0.0089	0.0003	0.0015	0.0003	0.0038	0.0050	0.0110	0.0421	0.0078977	1221	154602	rs116177548	0.0061	0.0061	0.0049	0.0073	0.0403	0.0060	0.0059	0.0392	0.0388	0.0010	0.0013	0.0061	0.0003	0.0030	0.0135	0.0040	0.0072	0.0403	0.0042	0.0043	0.0038	0.0047	0.0396	0.0040	0.0039	0.0350	0.0332	0.0009	0	0.0028	0.0063	0.0008	0.0039	0.0170	0.0043	0.0038	0.0396	0.0	0.91255	D	0.001	0.83351	D	1.0	0.90584	D	0.999	0.92359	D	.	.	.	.	0.998288	0.44722	D	4.53	0.99067	H	0.47	0.56114	T	-7.69	0.95603	D	0.109	0.09490	0.210	0.86076	D	0.416	0.76272	T	9	0.0071762204	0.00163	T	.	.	.	0.365	0.68495	.	.	0.612105117874	0.60898	0.40462831523539394	0.40378	.	.	0.502436220646	0.39167	T	0.168583	0.51564	T	-0.205426	0.20028	T	-0.0371565	0.67893	D	0.0867931227568148	0.10833	T	0.89531	0.63576	D	0.6614294	0.75975	0.67982537	0.81189	0.6614294	0.75976	0.67982537	0.81190	-12.058	0.85132	D	.	.	0.311	0.53838	B	.	.	3.332482	0.45886	22.2	0.99748695843572432	0.84077	0.94566	0.61582	D	AEFBI	0.362501	0.45174	N	0.709339028336467	0.80246	7.251683	0.535182317702874	0.70373	5.49572	0.999973434895134	0.50053	0.634777	0.41761	0	0.573888	0.26702	0	0.643519	0.47002	0	0.616125	0.45549	0	.	.	5.11	5.11	0.69188	2.517000	0.45189	.	.	0.599000	0.40250	0.824000	0.30046	0.964000	0.29435	0.076000	0.17014	0.1465:0.8535:0.0:0.0	14.595	0.67990	461	0.78683	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	9088.11	33	chr5	141096081	.	C	A	9088.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.10;DP=2166;ExcessHet=0.1072;FS=0.522;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=59.60;MQRankSum=2.78;QD=11.62;ReadPosRankSum=2.04;SOR=0.629	GT:AD:DP:GQ:PL	0/1:202,184:386:99:4736,0,5464	19	0	2	0
chr5	141122851	141122851	G	C	exonic	PCDHB4	.	nonsynonymous SNV	PCDHB4:NM_018938:exon1:c.G853C:p.D285H,	.	.	416	1054	51	1	0	53	0.0245257	.	.	698863	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.05	D	0.592	P	0.824	P	.	.	0.996	D	1.41	L	-0.19	T	-0.439	T	0.277	T	0.31	2.719	15.05	4.41	2.449	1.433	17.554	0.163	.	0.0037	0.00958466	0.0091	0.0003	0.0015	0.0003	0.0038	0.0050	0.0111	0.0425	0.0078524	1214	154602	rs149340599	0.0061	0.0061	0.0049	0.0073	0.0409	0.0060	0.0060	0.0398	0.0393	0.0010	0.0013	0.0061	0.0003	0.0030	0.0139	0.0040	0.0072	0.0409	0.0042	0.0042	0.0038	0.0047	0.0402	0.0040	0.0039	0.0356	0.0338	0.0009	0	0.0028	0.0063	0.0008	0.0038	0.0170	0.0043	0.0038	0.0402	0.002	0.72154	D	0.052	0.47581	T	0.592	0.39119	P	0.824	0.59271	P	.	.	.	.	0.995638	0.42782	D	0.975	0.24501	L	-0.19	0.65931	T	-2.03	0.46673	N	0.132	0.12770	-0.4390	0.70763	T	0.277	0.64896	T	9	0.0023590326	0.00035	T	.	.	.	0.163	0.42028	.	.	0.624762870363	0.62171	0.18137512757830604	0.18056	.	.	0.355227172375	0.18689	T	0.027262	0.20004	T	-0.419304	0.01728	T	-0.344377	0.39848	T	0.0769435884720714	0.09592	T	0.70183	0.31167	T	0.4089323	0.61346	0.5137543	0.71903	0.4089323	0.61346	0.5137543	0.71904	-6.845	0.52893	T	.	.	0.115	0.23113	B	.	.	3.029406	0.40572	21.2	0.99417549142401851	0.63597	0.69254	0.34115	D	AEFBI	0.313196	0.41842	N	0.117199949162578	0.47266	2.954661	0.076161419448437	0.43353	2.63879	0.461169955851713	0.20625	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	4.41	4.41	0.52588	0.765000	0.26211	.	.	0.590000	0.31872	0.000000	0.06391	0.931000	0.28545	0.993000	0.69303	0.0:0.0:1.0:0.0	17.554	0.87781	520	0.74355	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	1	0	0	0	0	0	0	0.04762	2166.11	104	chr5	141122851	.	G	C	2166.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-1.065e+00;DP=1646;ExcessHet=0.1072;FS=1.151;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=11.84;ReadPosRankSum=-2.400e-02;SOR=0.731	GT:AD:DP:GQ:PL	0/1:56,46:102:99:1247,0,1709	19	0	2	0
chr5	141188004	141188004	G	T	exonic	PCDHB9	.	nonsynonymous SNV	PCDHB9:NM_019119:exon1:c.G686T:p.R229L,	.	.	.	.	.	.	.	.	.	.	.	3368112	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.65e-05	0	0	0	0	2.997e-05	0	0	1.29e-05	2	154602	rs782120289	9.167e-05	9.166e-05	8.44e-05	9.901e-05	0.0001	7.891e-05	7.365e-05	0.0001	9.594e-05	2.987e-05	0	0	0	0	0	0.0001	1.656e-05	0	3.289e-05	3.941e-05	5.142e-05	1.347e-05	5.881e-05	1.262e-05	7.99e-06	1.972e-05	1.125e-05	2.416e-05	0	0	0	0	0	0	5.881e-05	0	0	.	.	.	0.301	0.20293	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.108	0.09349	.	.	.	.	.	.	.	0.11952537	0.22620	T	.	.	.	.	.	.	.	0.435808882951	0.43200	0.09243345553841123	0.09175	.	.	0.253832876682	0.04183	T	.	.	.	-0.226155	0.17160	T	-0.454975	0.27149	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.132	0.28521	B	.	.	-0.510197	0.01835	0.146	0.47423982575489765	0.03876	0.02068	0.06163	N	AEFDGBI	.	.	.	.	.	.	.	.	.	0.995831735592029	0.34354	0.090766	0.02384	0	0.060609	0.00678	0	0.129117	0.03641	0	0.062806	0.01542	0	0.0611257	0.14666	3.3	-6.6	0.01657	-3.733000	0.00427	.	.	-0.483000	0.05064	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.3899:0.1032:0.2996:0.2074	1.388	0.02110	664	0.61548	.	.	.	.	.	.	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	2791.98	46	chr5	141188004	.	G	T	2791.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.870e-01;DP=1643;ExcessHet=0.0000;FS=0.598;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.93;MQRankSum=0.00;QD=17.02;ReadPosRankSum=-3.140e-01;SOR=0.609	GT:AD:DP:GQ:PL	0/1:63,101:164:99:2806,0,1570	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	0/1:180,49,12:241:99:.:.:965,0,5976,564,6161,7711	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	0/1:180,49,12:241:99:.:.:965,0,5976,564,6161,7711	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	0/1:180,70:250:99:.:.:1123,0,5972	1	0	20	0
chr5	145937936	145937936	A	C	exonic	SH3RF2	.	nonsynonymous SNV	SH3RF2:NM_152550:exon2:c.A8C:p.D3A,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.999	D	0.941	D	0.000	D	1.000	D	-0.255	N	1.96	T	-0.947	T	0.062	T	0.532	3.856	19.59	6.07	2.326	9.339	16.629	0.295	0.0285529735341	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.006	0.61437	D	0.019	0.59159	D	0.999	0.77913	D	0.941	0.67658	D	0.000010	0.62929	D	0.067316	1	0.81001	D	-0.125	0.04555	N	1.96	0.22270	T	-4.63	0.79229	D	0.547	0.59308	-0.9467	0.41532	T	0.062	0.25815	T	10	0.5868644	0.66160	D	0.028553	0.51215	D	0.295	0.61502	0.226	0.15109	0.622533131713	0.61946	0.4741956979123084	0.47338	0.624079585414	0.56630	0.444784849882	0.31231	T	0.280074	0.65277	T	-0.0519528	0.44151	T	-0.312403	0.43400	T	0.989774942398071	0.79995	D	0.243476	0.03544	T	0.52114946	0.68325	0.40648916	0.65020	0.52114946	0.68326	0.40648916	0.65020	-11.528	0.82476	D	.	.	0.464	0.64090	A	.;.	.;.	4.934651	0.81390	27.5	0.99047170409028007	0.51162	0.96689	0.70415	D	AEFDGBCI	0.917492	0.88519	D	0.592603034587598	0.72711	5.849061	0.684340767918684	0.81191	7.469054	1.0	0.98316	0.652421	0.48094	0	0.563428	0.19063	0	0.64067	0.45733	0	0.616125	0.45549	0	.	.	6.07	6.07	0.98675	9.325000	0.96006	11.259000	0.91010	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.925000	0.46118	1.0:0.0:0.0:0.0	16.629	0.84866	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	0	0	0	0	0.04762	2375.08	33	chr5	145937936	.	A	C	2375.08	.	AC=2;AF=0.048;AN=42;DP=757;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;QD=32.99;SOR=1.148	GT:AD:DP:GQ:PL	1/1:0,72:72:99:2403,216,0	20	1	0	0
chr5	154834880	154834880	G	C	exonic	FAXDC2	.	nonsynonymous SNV	FAXDC2:NM_032385:exon3:c.C103G:p.L35V,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.14	T	0.741	P	0.178	B	0.000	D	1.000	D	2	M	0.11	T	-0.790	T	0.177	T	0.375	3.984	20.4	5.18	1.567	5.717	15.162	0.128	0.0225774624919	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.51e-05	8.073e-05	1.775e-05	1.243e-05	5.991e-05	9.89e-06	8.44e-06	1.015e-05	8.37e-06	5.991e-05	0	0	0	0	0	1.624e-05	3.321e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.234	0.22660	T	0.192	0.28300	T	0.741	0.42992	P	0.178	0.35748	B	0.000062	0.52346	D	0.127254	0.999577	0.47641	D	2.33	0.66821	M	0.11	0.61208	T	-1.43	0.42575	N	0.476	0.55280	-0.7898	0.55741	T	0.177	0.52272	T	10	0.3608216	0.52717	T	0.022577	0.45482	T	0.128	0.35103	0.368	0.37687	0.50685403127	0.50322	0.5472392752767269	0.54649	0.565306047963	0.52874	0.427203059196	0.28826	T	0.006447	0.05881	T	-0.0350922	0.46673	T	-0.288184	0.45962	T	0.975553870201111	0.70985	D	0.824718	0.55237	T	0.1653164	0.36795	0.16677296	0.38511	0.1653164	0.36795	0.16677296	0.38510	-4.327	0.28554	T	.	.	0.122	0.45149	B	.;.;.;.;.	.;.;.;.;.	3.205176	0.43602	21.8	0.99783212881991934	0.86955	0.93639	0.58770	D	AEFDGBHCI	0.839166	0.75660	D	0.282525933287588	0.55260	3.690427	0.346314316601126	0.58285	3.998306	0.999999999999752	0.74766	0.536635	0.22144	0	0.546412	0.12157	0	0.489635	0.07774	0	0.322989	0.05693	1	.	.	6.04	5.18	0.71140	4.974000	0.63486	8.428000	0.77165	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.933000	0.47100	0.0681:0.0:0.9319:0.0	15.162	0.72472	879	0.29470	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	2160.86	127	chr5	154834880	.	G	C	2160.86	.	AC=15;AF=0.357;AN=42;BaseQRankSum=-3.995e+00;DP=2921;ExcessHet=17.4423;FS=258.744;InbreedingCoeff=-0.5414;MLEAC=15;MLEAF=0.357;MQ=60.00;MQRankSum=0.00;QD=1.13;ReadPosRankSum=0.501;SOR=12.076	GT:AD:DP:GQ:PL	0/1:89,49:147:99:326,0,1577	6	0	15	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	2/2:0,0,538:538:99:.:.:23994,23994,23995,1619,1619,0	0	12	1	0
chr5	160259745	160259745	C	T	exonic	CCNJL	.	nonsynonymous SNV	CCNJL:NM_001308173:exon4:c.G307A:p.V103I	.	.	430	1072	19	1	0	21	0.00969977	.	.	2825503	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.12	T	1.0	D	0.994	D	0.000	D	1.000	D	0.695	N	2.78	T	-1.121	T	0.048	T	0.523	3.163	16.58	4.56	1.302	7.696	13.788	0.246	.	0.0067	0.00459265	0.0072	0.0030	0.0075	0	0.0009	0.0106	0.0046	0.0015	0.0072056	1114	154602	rs139134014	0.0098	0.0098	0.0101	0.0095	0.0117	0.0097	0.0096	0.0115	0.0114	0.0019	0.0076	0.0054	5.042e-05	0.0013	0.0116	0.0117	0.0088	0.0015	0.0069	0.0069	0.0076	0.0062	0.0110	0.0066	0.0064	0.0104	0.0101	0.0024	0	0.0091	0.0072	0	0.0008	0.0204	0.0110	0.0118	0.0008	0.2	0.20381	T	0.091	0.92824	T	1.0	0.90584	D	0.994	0.82059	D	0.000007	0.62929	D	0.063541	0.999999	0.58761	D	1.89	0.50145	L	2.33	0.16492	T	-0.46	0.16393	N	0.59	0.61002	-1.1211	0.02263	T	0.048	0.20592	T	10	0.009744018	0.00219	T	.	.	.	0.246	0.55340	.	.	0.334659703779	0.33074	0.28574121202124275	0.28487	0.682714212984	0.60129	0.49708211422	0.38421	T	0.007417	0.06827	T	-0.416459	0.01803	T	-0.359315	0.38131	T	0.06378534530485	0.07750	T	0.830817	0.52533	T	0.024704264	0.01329	0.04469099	0.05848	0.024704264	0.01329	0.04469099	0.05847	-3.643	0.18481	T	.	.	0.140	0.32202	B	.;.;.;.;.;.	.;.;.;.;.;.	3.618382	0.51192	23.1	0.99405797233699356	0.63028	0.97474	0.74982	D	AEFBI	0.769500	0.70474	D	0.0687260831938042	0.45009	2.764684	0.018617222673971	0.40579	2.424038	0.999999997513203	0.74766	0.706548	0.73137	0	0.491513	0.07743	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.43	4.56	0.55644	7.856000	0.85294	4.940000	0.46203	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.736000	0.35301	0.0:0.9253:0.0:0.0747	13.788	0.62612	925	0.17918	Cyclin-like;Cyclin, N-terminal|Cyclin-like|Cyclin-like;Cyclin, N-terminal|Cyclin-like|Cyclin-like;Cyclin-like;Cyclin, N-terminal|Cyclin-like|Cyclin-like;Cyclin, N-terminal|Cyclin-like|Cyclin-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	0.04762	2506.08	36	chr5	160259745	.	C	T	2506.08	.	AC=2;AF=0.048;AN=42;DP=782;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;QD=33.41;SOR=1.578	GT:AD:DP:GQ:PL	1/1:0,75:75:99:2534,225,0	20	1	0	0
chr5	176529760	176529760	C	T	exonic	RNF44	.	nonsynonymous SNV	RNF44:NM_014901:exon8:c.G985A:p.V329M,	.	.	421	1092	9	0	0	9	0.00410397	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	1.0	D	0.991	D	0.000	D	1.000	D	1.39	L	2.6	T	-1.090	T	0.095	T	0.675	4.766	26.7	5.01	2.606	7.235	18.111	0.142	0.0353931362956	0.0009	0.000399361	0.0008	0.0017	0.0008	0	0	0.0004	0.0013	0.0025	0.000608	94	154602	rs114764573	0.0005	0.0005	0.0004	0.0005	0.0020	0.0005	0.0004	0.0018	0.0017	0.0013	0.0010	7.696e-05	7.559e-05	0	0.0017	0.0004	0.0005	0.0020	0.0006	0.0006	0.0005	0.0007	0.0012	0.0005	0.0005	0.0009	0.0008	0.0012	0	0.0009	0	0	0	0	0.0003	0.0005	0.0008	0.004	0.65419	D	0.067	0.44302	T	1.0	0.90584	D	0.991	0.79672	D	0.000000	0.84330	D	0.000000	0.999903	0.50806	D	2.125	0.59049	M	2.32	0.16640	T	-0.93	0.24898	N	0.608	0.62526	-1.0897	0.05582	T	0.095	0.35871	T	10	0.0330607	0.01472	T	0.035393	0.56317	D	0.185	0.45933	.	.	0.322284741503	0.31843	0.6353027133647586	0.63464	0.730750437369	0.62720	0.798013031483	0.81661	T	0.031629	0.22129	T	-0.318574	0.07015	T	-0.23717	0.51074	T	0.0299282090100239	0.01979	T	0.940306	0.77472	D	0.29831415	0.52753	0.18525375	0.41628	0.29831415	0.52753	0.18525375	0.41627	-7.586	0.58213	D	.	.	0.194	0.41387	B	.	.	4.681300	0.74923	26.2	0.9988003132044303	0.95653	0.97183	0.73178	D	AEFDBCI	0.812928	0.73553	D	0.698375978476868	0.79523	7.096189	0.694251073471682	0.81941	7.646069	0.999999999999993	0.74766	0.722319	0.85440	0	0.698795	0.70079	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.01	5.01	0.66477	4.719000	0.61629	3.997000	0.41039	0.513000	0.23382	1.000000	0.71638	0.999000	0.35428	0.960000	0.51673	0.0:1.0:0.0:0.0	18.111	0.89466	526	0.73951	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	2220.11	38	chr5	176529760	.	C	T	2220.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=2.61;DP=1027;ExcessHet=0.1072;FS=2.311;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=10.00;ReadPosRankSum=1.24;SOR=0.803	GT:AD:DP:GQ:PL	0/1:77,45:122:99:1092,0,1836	19	0	2	0
chr5	178991554	178991554	C	A	exonic	GRM6	.	nonsynonymous SNV	GRM6:NM_000843:exon4:c.G727T:p.V243F,	Night blindness, congenital stationary (complete), 1B, autosomal recessive, Autosomal recessive	YES	0	1455	66	1	0	68	0.0228341	.	.	105546	Congenital_stationary_night_blindness_1B|not_specified|not_provided|GRM6-related_disorder	MONDO:MONDO:0009758,MedGen:C1850362,OMIM:257270,Orphanet:215|MedGen:CN169374|MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.05	D	0.979	D	0.883	P	.	.	0.996	D	2.47	M	-2.23	D	0.649	D	0.767	D	0.764	4.278	22.4	5.16	2.575	1.436	16.538	0.604	.	0.0019	0.00319489	0.0046	0.0004	0.0014	0	0.0003	0.0048	0.0067	0.0129	0.0042173	652	154602	rs17078894	0.0038	0.0038	0.0033	0.0042	0.0144	0.0037	0.0036	0.0128	0.0125	0.0003	0.0017	0.0377	2.52e-05	0.0004	0.0144	0.0025	0.0056	0.0134	0.0032	0.0032	0.0030	0.0033	0.0145	0.0029	0.0028	0.0118	0.0108	0.0006	0	0.0028	0.0421	0.0002	0	0.0068	0.0027	0.0052	0.0145	0.001	0.78490	D	0.004	0.74150	D	0.979	0.59044	D	0.883	0.62698	P	.	.	.	.	0.995925	0.42925	D	2.395	0.69210	M	-2.23	0.87116	D	-3.64	0.69835	D	0.771	0.87590	0.649	0.92536	D	0.767	0.92072	D	9	0.015617073	0.00328	T	.	.	.	0.604	0.84398	.	.	0.881730640562	0.88057	0.5530409845540497	0.55230	0.450566886049	0.44827	0.481126189232	0.36211	T	0.642794	0.89066	D	-0.126361	0.32085	T	0.0567458	0.74028	D	0.0345301796586626	0.02728	T	0.963604	0.86445	D	0.61503285	0.73498	0.63056123	0.78449	0.62473875	0.74018	0.6487359	0.79454	-14.153	0.93543	D	0.4373697868778072	0.52348	0.356	0.56952	A	.;.;.	.;.;.	4.541005	0.71374	25.7	0.99638721072216774	0.76510	0.90557	0.51832	D	AEFDBI	0.365301	0.45352	N	0.572894785320832	0.71485	5.658235	0.5271236060106	0.69822	5.415446	0.278587631831547	0.18964	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.562822	0.20929	0	.	.	5.16	5.16	0.70563	0.841000	0.27267	2.789000	0.34784	0.599000	0.40250	0.283000	0.25169	0.988000	0.31051	0.992000	0.67800	0.0:1.0:0.0:0.0	16.538	0.84224	691	0.58815	Receptor, ligand binding region;Receptor, ligand binding region;Receptor, ligand binding region	.	.	.	.	.	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	2746.11	35	chr5	178991554	.	C	A	2746.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.39;DP=888;ExcessHet=0.1072;FS=1.038;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=12.37;ReadPosRankSum=-1.400e-01;SOR=0.606	GT:AD:DP:GQ:PL	0/1:55,58:113:99:1428,0,1244	19	0	2	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	0/1:21,18,0:39:99:633,0,828,697,882,1578	14	0	6	0
chr6	10529216	10529216	C	G	exonic	GCNT2	.	nonsynonymous SNV	GCNT2:NM_001374747:exon1:c.C305G:p.T102S	Adult i phenotype without cataract, Autosomal dominant;Cataract 13 with adult i phenotype, Autosomal recessive	.	0	1493	29	0	0	29	0.00961857	.	.	1171476	GCNT2-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.12	T	0.11	B	0.292	B	0.758	N	0.999	N	2.09	M	2.85	T	-0.920	T	0.025	T	0.57	1.019	9.162	3.32	1.305	2.421	12.774	0.181	.	0.0083	0.00658946	0.0099	0.0013	0.0072	0	0.0033	0.0110	0.0099	0.0205	0.0093207	1441	154602	rs77616261	0.0095	0.0095	0.0092	0.0098	0.0191	0.0094	0.0093	0.0183	0.0180	0.0014	0.0070	0.0280	2.519e-05	0.0032	0.0180	0.0092	0.0100	0.0191	0.0079	0.0079	0.0078	0.0080	0.0176	0.0075	0.0074	0.0146	0.0135	0.0020	0.0340	0.0082	0.0265	0	0.0030	0.0170	0.0106	0.0137	0.0176	.	.	.	0.018	0.59732	D	0.11	0.26188	B	0.292	0.40739	B	0.758074	0.06524	N	1.117870	1	0.21543	N	2.74	0.80084	M	2.85	0.10578	T	-2.43	0.53258	N	0.5	0.53269	-0.9203	0.45513	T	0.025	0.10598	T	10	0.0067899227	0.00154	T	.	.	.	0.181	0.45247	0.723	0.85761	0.37479162749	0.37093	0.3805399115838995	0.37968	0.0459134574599	0.04987	.	.	.	0.049076	0.28203	T	-0.450994	0.01115	T	-0.405662	0.32727	T	0.0398304975897855	0.03660	T	.	.	.	0.71189314	0.78711	0.4726102	0.69427	0.6698231	0.76425	0.4726102	0.69427	-6.369	0.49267	T	.	.	0.222	0.45273	B	.;.	.;.	2.312349	0.29604	18.17	0.96069347130115357	0.28617	0.78773	0.38916	D	AEFDGBCI	.	.	.	-0.217469215596355	0.32416	1.827961	-0.213000551556974	0.31068	1.754866	0.999999972095965	0.74766	0.554377	0.28877	0	0.484254	0.07192	0	0.602189	0.34648	0	0.665054	0.64577	0	.	.	5.43	3.32	0.37134	2.632000	0.46177	0.317000	0.17144	0.599000	0.40250	0.962000	0.33725	0.004000	0.18990	0.712000	0.34516	0.0:0.8408:0.0:0.1592	12.774	0.56814	856	0.34373	.;.	.	.	.	.	.	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	1769.98	92	chr6	10529216	.	C	G	1769.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.80;DP=1007;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.29;ReadPosRankSum=-6.600e-02;SOR=0.698	GT:AD:DP:GQ:PL	0/1:77,67:144:99:1784,0,2106	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	0/4:25,0,0,0,20,0:45:99:693,769,1735,769,1735,1735,769,1735,1735,1735,0,966,966,966,906,769,1735,1735,1735,966,1735	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	0/4:25,0,0,0,20,0:45:99:693,769,1735,769,1735,1735,769,1735,1735,1735,0,966,966,966,906,769,1735,1735,1735,966,1735	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	0/4:25,0,0,0,20,0:45:99:693,769,1735,769,1735,1735,769,1735,1735,1735,0,966,966,966,906,769,1735,1735,1735,966,1735	9	0	3	0
chr6	20402602	20402602	-	GCG	exonic	E2F3	.	nonframeshift insertion	E2F3:NM_001949:exon1:c.370_371insGCG:p.G129_P130insG,	.	.	324	1191	6	1	0	8	0.00334728	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0007	0	0	0	0	0	0	0.0023	0.0002329	36	154602	rs781324605	0.0007	0.0008	0.0004	0.0010	0.0128	0.0007	0.0007	0.0120	0.0117	4.278e-05	0	0	0.0001	0	0.0016	0.0002	0.0010	0.0128	0.0004	0.0004	0.0003	0.0005	0.0074	0.0003	0.0003	0.0054	0.0047	0.0001	0	6.732e-05	0	0	0	0.0034	0.0003	0	0.0074	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	669.94	38	chr6	20402602	.	A	AGCG	669.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.17;DP=557;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=25.77;ReadPosRankSum=1.62;SOR=0.657	GT:AD:DP:GQ:PL	0/1:9,17:26:99:684,0,327	20	0	1	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	0/2:41,16,19:76:64:305,64,633,0,496,559	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	0/2:41,16,19:76:64:305,64,633,0,496,559	2	0	6	2
chr6	25966838	25966838	G	A	exonic	TRIM38	.	nonsynonymous SNV	TRIM38:NM_006355:exon3:c.G316A:p.D106N,	.	.	424	1094	4	0	0	4	0.00182482	.	.	2439955	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.04	D	0.215	B	0.206	B	0.000	D	1.000	N	1.41	L	0.88	T	-1.044	T	0.044	T	0.041	2.128	13.07	2.59	0.784	2.690	6.624	0.089	0.0134416397057	.	.	3.3e-05	0	0	0	0	4.503e-05	0.0011	0	2.59e-05	4	154602	rs761564484	3.01e-05	3.01e-05	2.722e-05	3.3e-05	0.0009	2.281e-05	2.032e-05	0.0003	0.0002	0	8.944e-05	0	0	0	0.0009	2.248e-05	1.656e-05	0.0001	6.571e-06	6.567e-06	1.284e-05	0	2.413e-05	0	0	.	.	2.413e-05	0	0	0	0	0	0	0	0	0	0.056	0.38185	T	0.081	0.41742	T	0.215	0.30128	B	0.206	0.37138	B	0.000474	0.44119	D	0.000000	0.999993	0.08975	N	1.505	0.38159	L	0.88	0.46028	T	-2.31	0.51319	N	0.207	0.22998	-1.0439	0.16148	T	0.044	0.18906	T	10	0.16359362	0.30629	T	0.013442	0.32845	T	0.089	0.25827	0.645	0.78224	0.538745750885	0.53527	0.28908407555307297	0.28821	0.56137818192	0.52642	0.428974866867	0.29069	T	0.025757	0.19196	T	-0.420321	0.01702	T	-0.638884	0.09751	T	0.152841597795486	0.17328	T	0.726327	0.34071	T	0.17217435	0.37894	0.08362315	0.19179	0.17217435	0.37893	0.08362315	0.19178	-7.522	0.57765	D	.	.	0.135	0.29200	B	.	.	2.750302	0.36045	20.1	0.99641333881479466	0.76695	0.60758	0.31288	D	AEFDBCI	0.147949	0.27174	N	-0.299411087276186	0.29171	1.61534	-0.29219710068679	0.28355	1.580367	0.999987603899676	0.51787	0.722319	0.85440	0	0.672317	0.65289	0	0.675528	0.61593	0	0.735409	0.98432	0	.	.	4.37	2.59	0.30091	2.597000	0.45878	2.971000	0.35798	0.618000	0.50648	0.994000	0.38300	0.999000	0.35428	0.493000	0.28859	0.2126:0.0:0.7874:0.0	6.624	0.22011	505	0.75648	B-box-type zinc finger|B-box-type zinc finger|B-box-type zinc finger|B-box-type zinc finger	.	.	.	.	.	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	2164.98	34	chr6	25966838	.	G	A	2164.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.63;DP=880;ExcessHet=0.0000;FS=1.954;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.20;ReadPosRankSum=0.541;SOR=0.544	GT:AD:DP:GQ:PL	0/1:87,77:164:99:2179,0,2444	20	0	1	0
chr6	26056058	26056058	C	G	exonic	H1-2	.	nonsynonymous SNV	H1-2:NM_005319:exon1:c.G371C:p.G124A,	.	.	432	1082	8	0	0	8	0.00368324	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.001	B	0.001	B	0.005	N	0.623	D	0	N	2.62	T	-0.989	T	0.006	T	0.168	-1.261	0.048	4.55	2.728	2.513	12.495	0.088	.	0.0049	0.00758786	0.0032	0.0128	0.0023	0.0098	0	0.0017	0.0011	0.0018	0.0032665	505	154602	rs12111009	0.0030	0.0030	0.0030	0.0030	0.0364	0.0029	0.0029	0.0348	0.0342	0.0128	0.0030	0.0023	0.0364	0.0001	0.0126	0.0016	0.0035	0.0027	0.0053	0.0053	0.0055	0.0050	0.0124	0.0050	0.0048	0.0115	0.0112	0.0124	0.0274	0.0029	0.0017	0.0116	9.42e-05	0.0102	0.0018	0.0071	0.0027	1.0	0.00964	T	1.0	0.01155	T	0.001	0.07471	B	0.001	0.04355	B	0.005295	0.32928	N	0.289576	0.622772	0.32720	D	1.435	0.35949	L	2.62	0.12988	T	0.58	0.02598	N	0.204	0.22614	-0.9890	0.32853	T	0.006	0.02055	T	10	0.0044905543	0.00092	T	.	.	.	0.088	0.25558	.	.	0.3571064206	0.35317	0.018359074931310768	0.01789	.	.	0.357438147068	0.19012	T	0.077147	0.35587	T	-0.588203	0.00172	T	-0.606658	0.12259	T	0.0205114968150796	0.00751	T	0.458254	0.13193	T	0.09033513	0.21136	0.092658795	0.21848	0.09033513	0.21135	0.092658795	0.21847	-1.335	0.01458	T	.	.	0.072	0.04159	B	.	.	1.488131	0.19146	14.11	0.56959949466811632	0.05665	0.02067	0.06161	N	ALL	0.196731	0.32369	N	-0.506627704389623	0.21864	1.163498	-0.303452269170061	0.27987	1.556998	0.999999999999987	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.519653	0.09787	0	0.372554	0.06265	0	.	.	5.47	4.55	0.55429	4.109000	0.57562	3.158000	0.36555	0.599000	0.40250	0.555000	0.27385	0.438000	0.24889	0.004000	0.06068	0.0:0.6561:0.3439:0.0	12.495	0.55265	455	0.79073	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	650.98	43	chr6	26056058	.	C	G	650.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.265;DP=903;ExcessHet=0.0000;FS=3.191;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.14;ReadPosRankSum=0.422;SOR=1.077	GT:AD:DP:GQ:PL	0/1:53,27:80:99:665,0,1459	20	0	1	0
chr6	28259495	28259495	C	T	exonic	NKAPL	.	nonsynonymous SNV	NKAPL:NM_001007531:exon1:c.C124T:p.R42C,	.	.	428	1086	7	1	0	9	0.00412655	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07	T	0.013	B	0.002	B	0.595	N	1.000	N	1.65	L	2.17	T	-0.929	T	0.020	T	0.127	2.108	13.00	-3.2	-0.856	-0.895	11.187	0.039	.	0.0111	0.00658946	0.0033	0.0256	0.0046	0.0002	0	0.0011	0.0033	6.07e-05	0.0030207	467	154602	rs144553865	0.0016	0.0016	0.0017	0.0015	0.0275	0.0016	0.0015	0.0260	0.0254	0.0275	0.0055	0.0002	0	9.373e-05	0.0061	0.0009	0.0030	0.0002	0.0084	0.0084	0.0088	0.0080	0.0262	0.0080	0.0079	0.0249	0.0244	0.0262	0	0.0061	0	0.0004	0.0003	0.0068	0.0009	0.0114	0.0006	0.032	0.44694	D	0.022	0.57587	D	0.013	0.16609	B	0.002	0.06944	B	0.595259	0.05615	N	1.245590	1	0.08975	N	2.175	0.60977	M	2.17	0.19020	T	-2.89	0.60665	D	0.089	0.06720	-0.9287	0.44328	T	0.020	0.08220	T	10	0.0029786527	0.00048	T	.	.	.	0.039	0.10176	.	.	0.0846915920261	0.08053	0.22714913724606797	0.22629	0.5886941255	0.54410	0.431503504515	0.29414	T	0.013614	0.11743	T	-0.646221	0.00076	T	-0.681431	0.06897	T	0.0452981074223334	0.04657	T	0.463154	0.13467	T	0.09699874	0.22858	0.09062915	0.21264	0.09699874	0.22857	0.09062915	0.21264	-6.16	0.47598	T	.	.	0.119	0.24464	B	.	.	2.066567	0.26275	17.06	0.98160224660493034	0.38764	0.04858	0.10594	N	AEFDBCI	0.080032	0.16174	N	-1.05092432064256	0.07569	0.352078	-1.17878315713322	0.06265	0.3010412	0.999950248462293	0.48110	0.554377	0.28877	0	0.541556	0.11502	0	0.602189	0.34648	0	0.56751	0.32155	0	.	.	3.99	-3.2	0.04838	-0.635000	0.05568	-0.359000	0.09688	0.580000	0.29708	0.000000	0.06391	0.000000	0.08366	0.012000	0.09680	0.0:0.2314:0.6768:0.0918	11.187	0.47887	495	0.76383	.	.	.	.	.	.	Likely benign	0	0	0	0	0	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	1504.98	33	chr6	28259495	.	C	T	1504.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.17;DP=801;ExcessHet=0.0000;FS=0.763;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.20;ReadPosRankSum=1.35;SOR=0.811	GT:AD:DP:GQ:PL	0/1:51,55:106:99:1519,0,1399	20	0	1	0
chr6	29086317	29086317	C	T	exonic	OR2B3	.	nonsynonymous SNV	OR2B3:NM_001005226:exon1:c.G932A:p.C311Y,	.	.	435	1082	5	0	0	5	0.00230521	.	.	3363418	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	1	T	0.0	B	0.0	B	0.562	N	1.000	N	0.345	N	1.2	T	-1.043	T	0.011	T	0.085	-0.851	0.547	-6.43	-1.736	-0.556	6.081	0.015	0.000933220802558	.	.	1.808e-05	0	0	0	0	3.142e-05	0	0	2.59e-05	4	154602	rs778953672	4.148e-05	4.515e-05	4.611e-05	3.678e-05	0.0007	3.266e-05	2.991e-05	0.0002	0.0001	0.0002	0.0002	0	0	0	0.0007	2.837e-05	0.0001	4.981e-05	1.971e-05	1.97e-05	1.285e-05	2.69e-05	6.546e-05	5.24e-06	2.45e-06	.	.	2.412e-05	0	6.546e-05	0	0	0	0	1.47e-05	0	0	1.0	0.00964	T	0.29	0.21011	T	0.0	0.02946	B	0.0	0.01387	B	0.561578	0.05427	N	1.411670	1	0.08975	N	1.845	0.48678	L	1.2	0.37405	T	-0.12	0.08809	N	0.131	0.12627	-1.0426	0.16532	T	0.011	0.03903	T	10	0.04382524	0.03272	T	9.33E-4	0.00911	T	0.015	0.02232	0.358	0.36060	0.132336055621	0.12781	0.2240930004227983	0.22324	0.0212929991786	0.02108	0.35268586874	0.18317	T	0.021881	0.16964	T	-0.507135	0.00521	T	-0.717932	0.04897	T	0.0195209183673353	0.00656	T	.	.	.	0.10560947	0.24970	0.1317191	0.31624	0.10560947	0.24970	0.1317191	0.31623	-3.555	0.17211	T	.	.	0.074	0.05060	B	.	.	-0.825592	0.01058	0.046	0.23326708355654011	0.00981	0.00251	0.01383	N	AEFI	0.017335	0.00448	N	-1.73784868487605	0.00716	0.0309129	-1.81165283444648	0.00723	0.03219904	0.00158637098702673	0.08668	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.22	-6.43	0.01754	-1.621000	0.02147	.	.	-1.250000	0.01303	0.000000	0.06391	0.000000	0.08366	0.189000	0.21571	0.257:0.4957:0.0:0.2474	6.081	0.19164	754	0.51307	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	610.98	42	chr6	29086317	.	C	T	610.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.91;DP=752;ExcessHet=0.0000;FS=1.240;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.22;ReadPosRankSum=1.25;SOR=1.037	GT:AD:DP:GQ:PL	0/1:29,21:50:99:625,0,844	20	0	1	0
chr6	29440841	29440841	T	A	exonic	OR10C1	.	nonsynonymous SNV	OR10C1:NM_013941:exon1:c.T826A:p.F276I,	.	.	423	1094	5	0	0	5	0.00227998	.	.	3366718	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.06	T	0.999	D	0.988	D	0.001	N	1.000	D	1.775	L	8.59	T	-0.572	T	0.001	T	0.419	3.629	18.46	3.54	1.478	-0.237	11.949	0.104	0.00897507800541	0.0002	.	0.0001	0.0008	0	0	0	9.425e-05	0.0011	6.142e-05	9.7e-05	15	154602	rs146670709	8.484e-05	8.482e-05	9.259e-05	7.702e-05	0.0012	7.21e-05	6.798e-05	0.0006	0.0005	0.0008	0.0002	0	0	0	0.0012	4.317e-05	0.0004	0.0001	0.0002	0.0002	0.0001	0.0002	0.0005	0.0001	0.0001	0.0004	0.0003	0.0005	0	6.542e-05	0	0	0	0	2.94e-05	0	0.0002	0.066	0.36113	T	.	.	.	0.999	0.77913	D	0.988	0.77976	D	0.001070	0.40389	N	0.000000	0.584502	0.81001	D	1.81	0.47622	L	8.59	0.00172	T	-3.54	0.68651	D	.	.	-0.5716	0.65951	T	0.001	0.00222	T	10	0.1058687	0.19590	T	0.008975	0.23631	T	0.104	0.29647	.	.	0.1749357433	0.17121	0.19670069149597033	0.19587	1.26958207487	0.82244	0.215960562229	0.01089	T	0.011099	0.09944	T	-0.352316	0.04582	T	-0.381944	0.35495	T	0.0826087743367967	0.10318	T	.	.	.	0.3216202	0.54776	0.28030849	0.54005	0.3216202	0.54776	0.28030849	0.54004	-7.049	0.54390	T	.	.	0.210	0.43815	B	.;.	.;.	2.625579	0.34132	19.54	0.99146901023779577	0.53709	0.17853	0.20015	N	AEFBI	0.117419	0.23003	N	0.169055124981142	0.49717	3.168973	0.0465461063381761	0.41904	2.525482	1.04855641214508E-4	0.05123	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	3.54	3.54	0.39650	-1.176000	0.03209	.	.	-0.146000	0.12295	0.000000	0.06391	0.000000	0.08366	0.732000	0.35165	0.0:0.0:0.0:1.0	11.949	0.52232	819	0.41190	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	2322.98	41	chr6	29440841	.	T	A	2322.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.327e+00;DP=1021;ExcessHet=0.0000;FS=2.669;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.12;ReadPosRankSum=-2.520e-01;SOR=0.935	GT:AD:DP:GQ:PL	0/1:90,87:177:99:2337,0,2423	20	0	1	0
chr6	29487736	29487736	G	A	exonic	MAS1L	.	nonsynonymous SNV	MAS1L:NM_052967:exon1:c.C167T:p.T56M,	.	.	427	1083	12	0	0	12	0.00550964	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09	T	0.918	P	0.225	B	.	.	1.000	N	0	N	3.77	T	-0.915	T	0.002	T	0.094	1.007	9.113	-1.59	-0.680	-0.612	4.140	0.037	.	0.0007	0.0109824	0.0028	0.0016	0.0002	0.0087	0	0.0003	0.0022	0.0133	0.0026843	415	154602	rs142885717	0.0011	0.0011	0.0008	0.0013	0.0115	0.0010	0.0010	0.0109	0.0106	0.0019	0.0003	0	0.0040	0	0.0029	0.0002	0.0023	0.0115	0.0014	0.0014	0.0013	0.0016	0.0145	0.0013	0.0012	0.0118	0.0108	0.0018	0	0.0004	0	0.0110	0	0	0.0001	0.0009	0.0145	0.107	0.29554	T	0.065	0.44702	T	0.918	0.50838	P	0.225	0.38015	B	.	.	.	.	1	0.08975	N	0	0.06538	N	3.77	0.03863	T	-1.52	0.36980	N	0.076	0.05037	-0.9146	0.46272	T	0.002	0.00676	T	9	0.0042514205	0.00085	T	.	.	.	0.037	0.09474	.	.	0.0138822411134	0.00435	0.11571563397725129	0.11499	0.27458894327	0.29952	0.484112679958	0.36623	T	0.021198	0.16551	T	-0.687635	0.00043	T	-0.750129	0.03480	T	0.0171048496985672	0.00456	T	.	.	.	0.016203921	0.00182	0.053636678	0.09072	0.016203921	0.00182	0.053636678	0.09072	-4.093	0.25187	T	.	.	0.099	0.16494	B	.	.	0.896818	0.12707	9.227	0.98782050059167692	0.46143	0.00610	0.02709	N	AEFBHCI	0.024797	0.01593	N	-1.14072334631568	0.05934	0.2718551	-1.33887947559064	0.03939	0.1847746	9.94293221331275E-4	0.08103	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.811	-1.59	0.08003	0.063000	0.14285	.	.	-0.630000	0.04515	0.000000	0.06391	0.000000	0.08366	0.010000	0.09038	0.4912:0.0:0.5088:0.0	4.140	0.09657	824	0.40336	.	.	.	.	.	.	Likely benign	0	0	0	0	0	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	3243.98	35	chr6	29487736	.	G	A	3243.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.87;DP=1084;ExcessHet=0.0000;FS=1.296;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=22.07;ReadPosRankSum=-9.840e-01;SOR=0.588	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:64,83:147:99:0|1:29487728_T_G:3258,0,2387:29487728	20	0	1	0
chr6	29942883	29942883	A	G	exonic	HLA-A	.	nonsynonymous SNV	HLA-A:NM_001242758:exon2:c.A200G:p.Q67R	.	.	0	1438	4	0	80	84	0.00138889	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09	T	0.968	D	0.986	D	.	.	1.000	N	0.675	N	5.81	T	-0.810	T	0.002	T	0.271	0.471	6.554	-0.813	0.031	-1.236	5.061	0.045	.	0.0204	0.0227636	0.0137	0.0536	0.0150	0.0007	0.0011	0.0104	0.0111	0.0133	0.0124837	1930	154602	rs41559117	0.0037	0.0078	0.0038	0.0037	0.0216	0.0036	0.0036	0.0202	0.0197	0.0216	0.0047	0.0108	8.565e-05	0.0001	0.0120	0.0032	0.0052	0.0039	0.0017	0.0090	0.0018	0.0016	0.0045	0.0015	0.0014	0.0039	0.0037	0.0045	0	0.0018	0.0031	0	0	0.0043	0.0004	0.0007	0	0.02	0.51853	D	0.041	0.57104	D	0.0	0.56581	B	0.006	0.76916	B	.	.	.	.	1	0.08975	N	.	.	.	5.81	0.00662	T	-1.14	0.29323	N	0.055	0.02861	-0.8104	0.54526	T	0.002	0.00615	T	9	0.00527516	0.00115	T	.	.	.	0.045	0.12272	.	.	.	.	0.07107235017823713	0.07044	0.08978525868	0.10134	0.482441782951	0.36394	T	0.031741	0.22178	T	-0.607241	0.00132	T	-0.602541	0.12598	T	0.00163650000544905	0.00017	T	0.0251975	0.00152	T	0.18879686	0.40394	0.19114956	0.42557	0.18879686	0.40394	0.19114956	0.42556	-7.366	0.56664	T	.	.	0.087	0.12985	B	.;.;.;.;.	.;.;.;.;.	0.832616	0.12043	8.596	0.59490845781891166	0.06237	0.00644	0.02812	N	AEFDGBHCI	0.252519	0.37219	N	-1.21743244991224	0.04747	0.2148947	-1.29180973749741	0.04541	0.2144058	0.999999969870594	0.74766	0.766844	0.99359	0	0.52208	0.09955	0	0.851219	0.99655	0	0.56214	0.19341	0	.	.	3.72	-0.813	0.10303	-0.362000	0.07655	.	.	-2.223000	0.00347	0.004000	0.16614	.	.	0.011000	0.09372	0.5529:0.3361:0.0:0.1109	5.061	0.13892	862	0.33134	MHC class I-like antigen recognition-like;MHC class I-like antigen recognition-like;MHC class I-like antigen recognition-like;MHC class I-like antigen recognition-like;MHC class I-like antigen recognition-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	0.02381	1862.98	113	chr6	29942883	.	A	G	1862.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.578e+00;DP=2885;ExcessHet=0.0000;FS=2.978;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.62;MQRankSum=1.55;QD=12.94;ReadPosRankSum=-8.020e-01;SOR=0.477	GT:AD:DP:GQ:PL	0/1:66,78:144:99:1877,0,1643	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|1:60,44,0:104:99:1|0:29942923_G_T:1583,0,2326,1763,2459,4222:29942923	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|1:49,26,0:75:99:0|1:29942923_G_T:944,0,1979,1092,2058,3149:29942923	3	4	8	2
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	0/1:90,18,0:108:99:.:.:441,0,3201,712,3255,3967	6	0	13	1
chr6	30164010	30164010	C	T	exonic	TRIM15	.	nonsynonymous SNV	TRIM15:NM_033229:exon1:c.C326T:p.P109L,	.	.	421	1091	10	0	0	10	0.00456204	.	.	2231646	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.27	T	0.14	B	0.123	B	0.149	N	0.984	N	1.21	L	0.4	T	-1.080	T	0.070	T	0.085	-0.569	1.436	4.46	2.526	-0.038	12.579	0.147	0.0639100743459	0.0004	.	0.0005	0.0004	0.0003	0	0.0005	0.0007	0.0035	0.0002	0.0004786	74	154602	rs144365165	0.0005	0.0005	0.0005	0.0005	0.0109	0.0005	0.0005	0.0088	0.0080	0.0010	0.0007	0.0011	0	0.0002	0.0109	0.0004	0.0009	0.0003	0.0003	0.0003	0.0003	0.0004	0.0007	0.0002	0.0002	0.0004	0.0003	0.0001	0	0.0007	0.0014	0	0.0002	0.0068	0.0003	0.0005	0.0002	0.593	0.05755	T	0.659	0.06533	T	0.14	0.27540	B	0.123	0.32463	B	0.148958	0.18033	N	0.472859	1	0.24812	N	1.235	0.30780	L	0.4	0.57261	T	-1.86	0.43524	N	0.096	0.07673	-1.0796	0.07426	T	0.070	0.28412	T	10	0.018742085	0.00411	T	0.06391	0.69115	D	0.147	0.38986	.	.	0.595389996124	0.59217	0.28006362107753774	0.27919	1.15342620932	0.79294	0.414110958576	0.27026	T	0.028585	0.20673	T	-0.52572	0.00407	T	-0.631027	0.10336	T	0.0339010098842328	0.02621	T	.	.	.	0.09793092	0.23092	0.13871458	0.33119	0.09793092	0.23092	0.13871458	0.33119	-5.777	0.44373	T	.	.	0.157	0.35331	B	.;.	.;.	1.848071	0.23478	16.03	0.69816139107414465	0.09094	0.13203	0.17723	N	AEFBCI	0.170600	0.29752	N	-0.597953326796199	0.19007	0.9913868	-0.591965522607856	0.19702	1.058224	0.999996027343381	0.74766	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.39	4.46	0.53567	-0.784000	0.04739	.	.	0.539000	0.25131	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.1669:0.8331:0.0:0.0	12.579	0.55734	840	0.37365	B-box-type zinc finger|B-box-type zinc finger|B-box-type zinc finger|B-box-type zinc finger;B-box-type zinc finger|B-box-type zinc finger|B-box-type zinc finger|B-box-type zinc finger	.	.	.	.	.	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	968.98	37	chr6	30164010	.	C	T	968.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.372;DP=945;ExcessHet=0.0000;FS=1.461;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=7.12;ReadPosRankSum=1.16;SOR=0.537	GT:AD:DP:GQ:PL	0/1:92,44:136:99:983,0,2536	20	0	1	0
chr6	30712504	30712504	G	A	exonic	MDC1	.	nonsynonymous SNV	MDC1:NM_014641:exon5:c.C1438T:p.L480F,	.	.	415	1103	4	0	0	4	0.00180995	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07	T	0.185	B	0.121	B	.	.	1.000	N	0.69	N	4.14	T	-0.908	T	0.003	T	0.123	0.523	6.833	-0.466	-0.140	0.414	2.248	0.007	0.0146204584084	.	.	6.884e-05	0	0	0	0	0.0001	0.0011	0	5.17e-05	8	154602	rs779398158	6.572e-05	6.567e-05	7.22e-05	5.917e-05	0.0019	5.499e-05	5.111e-05	0.0011	0.0008	0.0001	0.0002	0	0	0	0.0019	5.126e-05	0.0002	6.956e-05	1.315e-05	1.314e-05	1.285e-05	1.346e-05	2.414e-05	2.18e-06	8.2e-07	.	.	2.414e-05	0	0	0	0	0	0	1.47e-05	0	0	0.081	0.33418	T	0.098	0.39040	T	0.031	0.20130	B	0.014	0.16862	B	.	.	.	.	1	0.08975	N	2.22	0.62911	M	4.14	0.02839	T	-1.46	0.35792	N	0.131	0.12627	-0.9079	0.47109	T	0.003	0.00897	T	9	0.05364281	0.05588	T	0.01462	0.34856	T	0.007	0.00512	.	.	0.107399877778	0.10242	0.05192616423010705	0.05134	0.511552262533	0.49229	0.24779355526	0.03539	T	0.130576	0.45956	T	-0.451847	0.01102	T	-0.650155	0.08944	T	0.043131175526863	0.04262	T	.	.	.	0.06924056	0.15154	0.11717496	0.28287	0.06924056	0.15154	0.11717496	0.28287	-5.51	0.41961	T	.	.	0.144	0.31733	B	.	.	2.341736	0.30010	18.30	0.9907183325391522	0.51739	0.12278	0.17170	N	AEFDBHCI	.	.	.	-1.2334865147577	0.04522	0.2042574	-1.31640753394029	0.04218	0.1984827	0.999915534871172	0.45857	0.722319	0.85440	0	0.698795	0.70079	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	2.5	-0.466	0.11546	0.484000	0.22017	.	.	-0.148000	0.12190	0.011000	0.18532	0.000000	0.08366	0.449000	0.27873	0.3019:0.0:0.4525:0.2456	2.248	0.03790	884	0.28482	.	.	.	.	.	.	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	1906.98	77	chr6	30712504	.	G	A	1906.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.980;DP=2178;ExcessHet=0.0000;FS=0.636;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.02;ReadPosRankSum=1.14;SOR=0.703	GT:AD:DP:GQ:PL	0/1:70,66:136:99:1921,0,2028	20	0	1	0
chr6	31026275	31026275	A	0	exonic	MUC22	.	.	.	.	.	442	915	59	11	95	176	0.0423862	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2143	8675.72	395	chr6	31026275	.	A	T,*	8675.72	.	AC=1,8;AF=0.024,0.190;AN=42;BaseQRankSum=-4.499e+00;DP=9847;ExcessHet=0.9430;FS=5.229;InbreedingCoeff=0.0101;MLEAC=1,8;MLEAF=0.024,0.190;MQ=60.00;MQRankSum=0.00;QD=2.13;ReadPosRankSum=0.273;SOR=0.779	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:349,0,163:512:99:0|1:31026245_ACCACAGGCT_A:5782,6832,21487,0,14654,14164:31026245	13	0	1	0
chr6	31028100	31028100	C	T	exonic	MUC22	.	nonsynonymous SNV	MUC22:NM_001198815:exon3:c.C2669T:p.T890I	.	.	422	1096	4	0	0	4	0.00182149	.	.	2211542	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0386462309295	.	0.000399361	.	.	.	.	.	.	.	.	0.0003074	8	26028	rs190445444	0.0003	0.0003	0.0003	0.0003	0.0018	0.0003	0.0003	0.0010	0.0007	0.0002	0.0002	0	0	0.0011	0.0018	0.0003	0.0003	8.844e-05	0.0003	0.0003	0.0003	0.0003	0.0004	0.0002	0.0002	0.0002	0.0002	4.845e-05	0	0.0002	0	0	0.0011	0	0.0004	0	0.0002	0.081	0.33418	T	0.084	0.41239	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	0	0.06538	N	2.96	0.09542	T	-1.34	0.33401	N	0.047	0.01911	.	.	.	.	.	.	.	0.017268628	0.00368	T	0.038646	0.58347	D	.	.	.	.	0.178374595973	0.17440	0.033358582065987324	0.03283	.	.	0.161172777414	0.00012	T	0.004935	0.04354	T	-0.615892	0.00117	T	-0.763881	0.02975	T	.	.	.	0.460054	0.13307	T	0.058346733	0.11728	0.05451429	0.09390	0.058346733	0.11728	0.05451429	0.09390	-6.657	0.51486	T	.	.	0.248	0.48230	B	.	.	0.972671	0.13500	10.02	0.44246270330878457	0.03388	0.07090	0.13116	N	AEFBI	0.042150	0.06502	N	.	.	.	.	.	.	0.00695500578045678	0.11350	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	2.93	0.895	0.18380	0.078000	0.14615	.	.	0.530000	0.24713	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.6624:0.2066:0.131	5.403	0.15606	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	0	0	0	0	0.02381	11523.98	773	chr6	31028100	.	C	T	11523.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.40;DP=13621;ExcessHet=0.0000;FS=0.519;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.98;MQRankSum=-8.200e-02;QD=12.57;ReadPosRankSum=-1.340e-01;SOR=0.762	GT:AD:DP:GQ:PL	0/1:486,431:917:99:11538,0,12867	20	0	1	0
chr6	31028713	31028713	C	0	exonic	MUC22	.	.	.	.	.	482	658	261	50	71	432	0.215265	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	200572.81	770	chr6	31028713	.	C	T,*	200572.81	.	AC=13,2;AF=0.310,0.048;AN=42;BaseQRankSum=1.28;DP=14734;ExcessHet=0.8717;FS=0.000;InbreedingCoeff=0.0667;MLEAC=13,2;MLEAF=0.310,0.048;MQ=59.98;MQRankSum=0.00;QD=20.50;ReadPosRankSum=-4.400e-01;SOR=0.705	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:476,458,0:934:99:0|1:31028713_C_T:16861,0,17677,18292,19054,37346:31028713	9	2	8	0
chr6	31029811	31029811	-	GCAGGC	exonic	MUC22	.	nonframeshift insertion	MUC22:NM_001198815:exon3:c.4380_4381insGCAGGC:p.T1460_S1461insAG	.	.	437	906	156	17	6	196	0.0949051	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs28994679	0.0017	0.0017	0.0015	0.0019	0.0071	0.0016	0.0016	0.0053	0.0046	0.0004	0.0019	0.0047	0.0004	0.0061	0.0071	0.0013	0.0023	0.0048	0.0006	0.0006	0.0006	0.0005	0.0010	0.0005	0.0004	0.0006	0.0005	0.0002	0.0014	0.0005	0.0015	0.0002	0.0008	0	0.0008	0.0006	0.0010	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.119	42976.19	583	chr6	31029811	.	T	TGCAGGC,*	42976.19	.	AC=3,2;AF=0.071,0.048;AN=42;BaseQRankSum=-4.195e+00;DP=15094;ExcessHet=1.1607;FS=0.524;InbreedingCoeff=-0.1351;MLEAC=3,2;MLEAF=0.071,0.048;MQ=59.64;MQRankSum=-2.283e+00;QD=9.77;ReadPosRankSum=-2.270e-01;SOR=0.648	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:339,477,0:816:99:0|1:31029811_T_TGCAGGC:15174,0,9756,16197,11188,27385:31029811	16	0	3	0
chr6	31029811	31029811	T	0	exonic	MUC22	.	.	.	.	.	437	906	156	17	6	196	0.0949051	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.119	42976.19	583	chr6	31029811	.	T	TGCAGGC,*	42976.19	.	AC=3,2;AF=0.071,0.048;AN=42;BaseQRankSum=-4.195e+00;DP=15094;ExcessHet=1.1607;FS=0.524;InbreedingCoeff=-0.1351;MLEAC=3,2;MLEAF=0.071,0.048;MQ=59.64;MQRankSum=-2.283e+00;QD=9.77;ReadPosRankSum=-2.270e-01;SOR=0.648	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:339,477,0:816:99:0|1:31029811_T_TGCAGGC:15174,0,9756,16197,11188,27385:31029811	16	0	3	0
chr6	31029812	31029812	-	CTGAGACCACCACAGCCTCCACTG	exonic	MUC22	.	nonframeshift insertion	MUC22:NM_001198815:exon3:c.4381_4382insCTGAGACCACCACAGCCTCCACTG:p.S1461_G1462insETTTASTA	.	.	445	715	203	2	157	364	0.126451	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0015	0.0015	0.0014	0.0016	0.0071	0.0015	0.0014	0.0052	0.0046	0.0002	0.0014	0.0048	0.0004	0.0062	0.0071	0.0012	0.0021	0.0041	0.0005	0.0005	0.0006	0.0005	0.0013	0.0004	0.0004	0.0005	0.0005	0.0001	0	0.0005	0.0018	0.0002	0.0009	0	0.0007	0.0007	0.0013	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2895	60923.36	583	chr6	31029812	.	T	G,TCTGAGACCACCACAGCCTCCACTG,*	60923.36	.	AC=6,3,2;AF=0.158,0.079,0.053;AN=38;BaseQRankSum=-3.870e-01;DP=15677;ExcessHet=7.7275;FS=0.535;InbreedingCoeff=-0.4000;MLEAC=6,3,2;MLEAF=0.158,0.079,0.053;MQ=59.59;MQRankSum=-2.939e+00;QD=6.47;ReadPosRankSum=-4.882e+00;SOR=0.609	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:339,0,477,0:816:99:0|1:31029811_T_TGCAGGC:15174,16197,27384,0,11187,9756,16197,27384,11187,27384:31029811	8	0	6	2
chr6	31029812	31029812	T	0	exonic	MUC22	.	.	.	.	.	445	715	203	2	157	364	0.126451	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2895	60923.36	583	chr6	31029812	.	T	G,TCTGAGACCACCACAGCCTCCACTG,*	60923.36	.	AC=6,3,2;AF=0.158,0.079,0.053;AN=38;BaseQRankSum=-3.870e-01;DP=15677;ExcessHet=7.7275;FS=0.535;InbreedingCoeff=-0.4000;MLEAC=6,3,2;MLEAF=0.158,0.079,0.053;MQ=59.59;MQRankSum=-2.939e+00;QD=6.47;ReadPosRankSum=-4.882e+00;SOR=0.609	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:339,0,477,0:816:99:0|1:31029811_T_TGCAGGC:15174,16197,27384,0,11187,9756,16197,27384,11187,27384:31029811	8	0	6	2
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|2:168,0,162:330:99:0|1:31138722_G_A:6062,6567,13539,0,6971,6484:31138722	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	0|1:73,50:123:99:0|1:31269983_C_T:1880,0,2915:31269983	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	0|1:74,50:124:99:0|1:31269983_C_T:1877,0,2957:31269983	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	0|1:74,50:124:99:0|1:31269983_C_T:1877,0,2957:31269983	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	0|1:67,55:122:99:0|1:31270037_A_AGGACAGCCAGGACAGCTG:2099,0,2589:31270037	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	0|1:71,51:122:99:0|1:31270037_A_AGGACAGCCAGGACAGCTG:1920,0,2768:31270037	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	1/2:0,65,53:118:99:.:.:4026,2209,2013,1984,0,2696	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	0|1:68,52:120:99:0|1:31270037_A_AGGACAGCCAGGACAGCTG:1971,0,2694:31270037	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|1:136,18:154:99:0|1:31271037_T_C:346,0,5613:31271037	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|1:141,19:160:99:0|1:31271037_T_C:371,0,5790:31271037	17	0	4	0
chr6	31271120	31271120	C	G	exonic	HLA-C	.	nonsynonymous SNV	HLA-C:NM_001243042:exon3:c.G572C:p.W191S	.	.	0	1434	88	0	0	88	0.02977	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	T	0.13	B	0.172	B	0.034	N	1.000	N	1.92	M	9.23	T	-1.055	T	0.000	T	0.632	-0.747	0.827	-5.41	-1.558	-0.230	10.604	0.263	.	.	.	0.0305	0.0409	0.0235	0.0133	0.0139	0.0322	0.04	0.0377	0.0235055	3634	154602	rs150127748	3.447e-05	0.0007	3.541e-05	3.353e-05	0.0001	2.543e-05	2.22e-05	5.793e-05	3.72e-05	8.66e-05	0.0001	0	4.805e-05	0	0	3.358e-05	2.307e-05	0	0	0.0004	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.056	0.38407	T	0.235	0.24767	T	0.004	0.12183	B	0.039	0.23607	B	0.034101	0.01782	N	2.640200	0.999999	0.08975	N	.	.	.	9.23	0.00012	T	-8.99	0.98511	D	0.071	0.04426	-1.0547	0.13119	T	0.000	0.00039	T	10	0.017437935	0.00372	T	.	.	.	0.263	0.57612	.	.	.	.	0.47916892798528415	0.47836	0.827582985191	0.67484	0.422887742519	0.28234	T	0.088885	0.38255	T	-0.118559	0.33359	T	-0.408078	0.32447	T	0.055689136153455	0.06473	T	0.00846582	0.00040	T	.	.	.	.	.	.	.	.	-4.058	0.24668	T	.	.	0.164	0.38764	B	.;.;.	.;.;.	1.869959	0.23756	16.14	0.42989600505578496	0.03206	0.03967	0.09375	N	AEFGBHCI	0.128437	0.24621	N	-2.01232931330579	0.00199	0.008528513	-2.15168832890066	0.00144	0.006314187	0.999999987597125	0.74766	0.766844	0.99359	0	0.672317	0.65289	0	0.851219	0.99655	0	0.638787	0.57140	0	.	.	2.71	-5.41	0.02442	0.536000	0.22838	.	.	-1.213000	0.01349	0.798000	0.29695	0.000000	0.08366	0.000000	0.00833	0.2407:0.1633:0.596:0.0	10.604	0.44576	934	0.15400	MHC class I-like antigen recognition-like|MHC class I alpha chain, alpha1 alpha2 domains;MHC class I-like antigen recognition-like|MHC class I alpha chain, alpha1 alpha2 domains;MHC class I-like antigen recognition-like|MHC class I alpha chain, alpha1 alpha2 domains	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.119	2562.44	178	chr6	31271120	.	C	G	2562.44	.	AC=5;AF=0.119;AN=42;BaseQRankSum=-2.483e+00;DP=3459;ExcessHet=1.1607;FS=0.000;InbreedingCoeff=-0.1351;MLEAC=5;MLEAF=0.119;MQ=54.11;MQRankSum=-2.934e+00;QD=3.07;ReadPosRankSum=2.86;SOR=0.705	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:146,30:176:99:0|1:31271037_T_C:815,0,5968:31271037	16	0	5	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	1/3:42,70,1,69:182:99:.:.:3839,1073,2683,3955,2756,5758,1077,0,2766,2726	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|1:139,53:192:99:0|1:31271037_T_C:1604,0,5640:31271037	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	0|1:53,39,0:92:99:0|1:31271337_G_T:1467,0,2103,1627,2220,3847:31271337	9	2	9	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|1:0,94,0:94:99:1|1:31356168_A_C:4193,283,0,4193,283,4193:31356168	0	17	1	0
chr6	31356206	31356206	T	C	exonic	HLA-B	.	nonsynonymous SNV	HLA-B:NM_005514:exon3:c.A580G:p.R194G,	.	.	9	1445	68	0	0	68	0.0229885	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.998	D	0.999	D	0.863	U	0.999	N	3.79	H	5.47	T	-1.015	T	0.012	T	0.654	2.022	12.72	3.18	1.471	2.066	9.750	0.126	.	.	.	0.0020	0.0119	0.0022	0	0.0009	0.0014	0	0.0016	3.84e-05	1	26028	rs80093308	0.0002	0.0006	0.0001	0.0002	0.0006	0.0001	0.0001	0.0004	0.0003	0.0006	0.0002	0.0018	0	5.864e-05	0.0006	0.0001	0.0002	0.0002	0	0.0002	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.0	0.91255	D	0.02	0.72224	D	0.998	0.73220	D	0.999	0.92359	D	0.862898	0.08881	U	0.911042	0.999247	0.21461	N	.	.	.	5.47	0.00949	T	-5.43	0.87611	D	0.376	0.41754	-1.0148	0.25400	T	0.012	0.04747	T	10	0.006174743	0.00139	T	.	.	.	0.126	0.34673	.	.	0.365317461125	0.36143	0.3071164602338107	0.30624	0.947260733992	0.72462	.	.	.	0.025706	0.21238	T	0.00180131	0.51901	T	-0.235189	0.51267	T	0.133789763200546	0.15728	T	0.0357298	0.00358	T	0.831728	0.86023	0.84227955	0.90989	0.831728	0.86024	0.84227955	0.90990	-8.746	0.66047	D	.	.	0.251	0.65172	B	.;.;.	.;.;.	3.815724	0.55062	23.6	0.87284372311641101	0.17118	0.22402	0.21734	N	AEFDBHCI	0.171892	0.29889	N	0.103853030491869	0.46642	2.901466	-0.206620998615967	0.31298	1.769936	0.999999931592923	0.74766	0.766844	0.99359	0	0.672317	0.65289	0	0.851219	0.99655	0	0.554799	0.18163	0	.	.	3.18	3.18	0.35615	1.997000	0.40406	.	.	0.500000	0.22704	0.013000	0.18845	0.000000	0.08366	0.080000	0.17246	0.0:0.0:0.0:1.0	9.750	0.39635	934	0.15400	MHC class I-like antigen recognition-like|MHC class I alpha chain, alpha1 alpha2 domains;MHC class I-like antigen recognition-like|MHC class I alpha chain, alpha1 alpha2 domains;MHC class I-like antigen recognition-like|MHC class I alpha chain, alpha1 alpha2 domains	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.025	51.33	48	chr6	31356206	.	T	C	51.33	.	AC=1;AF=0.025;AN=40;BaseQRankSum=-2.502e+00;DP=1633;ExcessHet=0.0000;FS=0.769;InbreedingCoeff=-0.0370;MLEAC=1;MLEAF=0.025;MQ=50.51;MQRankSum=-1.200e-01;QD=0.50;ReadPosRankSum=-2.556e+00;SOR=0.821	GT:AD:DP:GQ:PL	0/1:89,13:102:65:65,0,3055	19	0	1	1
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	1/2:0,22,82:104:99:.:.:4191,3443,3357,561,0,677	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	1|2:0,40,32:72:99:0|1:31356431_G_*:2983,1344,1223,1645,0,1583:31356431	2	3	5	0
chr6	31356716	31356717	CA	0	exonic	HLA-B	.	.	.	.	.	0	89	17	5	115	142	0.131707	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	8236.57	83	chr6	31356716	.	CA	C,*	8236.57	.	AC=9,7;AF=0.214,0.167;AN=42;BaseQRankSum=0.225;DP=1092;ExcessHet=0.3152;FS=5.506;InbreedingCoeff=0.1923;MLEAC=9,7;MLEAF=0.214,0.167;MQ=54.99;MQRankSum=-6.619e+00;QD=10.81;ReadPosRankSum=-2.540e-01;SOR=1.129	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:47,32,0:79:99:0|1:31356711_C_CGG:1202,0,1877,1344,1974,3317:31356711	9	1	5	0
chr6	31356717	31356720	AGGT	0	exonic	HLA-B	.	.	.	.	.	38	705	540	138	101	917	0.366577	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	6123.37	83	chr6	31356717	.	AGGT	A,*	6123.37	.	AC=7,9;AF=0.167,0.214;AN=42;BaseQRankSum=1.37;DP=1099;ExcessHet=0.3152;FS=5.478;InbreedingCoeff=0.1923;MLEAC=7,9;MLEAF=0.167,0.214;MQ=53.41;MQRankSum=-6.729e+00;QD=7.95;ReadPosRankSum=0.357;SOR=1.082	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:47,0,32:79:99:0|1:31356711_C_CGG:1202,1344,3317,0,1974,1877:31356711	9	1	3	0
chr6	31356719	31356720	GT	0	exonic	HLA-B	.	.	.	.	.	10	742	10	2	758	772	0.00934579	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	8459.57	86	chr6	31356719	.	GT	G,*	8459.57	.	AC=9,7;AF=0.214,0.167;AN=42;BaseQRankSum=1.98;DP=1112;ExcessHet=0.3152;FS=5.449;InbreedingCoeff=0.1923;MLEAC=9,7;MLEAF=0.214,0.167;MQ=54.97;MQRankSum=-6.719e+00;QD=10.80;ReadPosRankSum=-1.130e-01;SOR=1.089	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:48,32,0:80:99:0|1:31356711_C_CGG:1199,0,1919,1344,2016,3359:31356711	9	1	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|1:0,96,0:96:99:1|1:31356739_C_A:4300,289,0,4300,289,4300:31356739	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|1:0,107,0:107:99:1|1:31356711_C_CGG:4815,322,0,4815,322,4815:31356711	0	5	0	0
chr6	31412383	31412384	TG	0	exonic;splicing	MICA;MICA	NM_000247:exon6:r.spl	.	.	.	.	653	335	270	56	208	590	0.363118	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2857	5842.28	59	chr6	31412383	.	TG	T,*	5842.28	.	AC=6,7;AF=0.143,0.167;AN=42;BaseQRankSum=-1.010e+00;DP=1486;ExcessHet=1.3217;FS=1.215;InbreedingCoeff=-0.0027;MLEAC=6,7;MLEAF=0.143,0.167;MQ=60.00;MQRankSum=0.00;QD=9.16;ReadPosRankSum=-1.114e+00;SOR=0.790	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:37,0,26:63:99:.:.:975,1086,2640,0,1554,1475	10	0	5	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	1/2:0,37,26,0:63:99:.:.:2839,1106,975,1552,0,1475,2750,1105,1563,2739	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|1:90,32:122:99:0|1:31625601_T_C:621,0,3016:31625601	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|1:90,32,0:122:99:0|1:31625601_T_C:621,0,3016,890,3111,4001:31625601	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|1:90,32,0:122:99:0|1:31625601_T_C:621,0,3016,890,3111,4001:31625601	0	0	18	2
chr6	32043548	32043548	C	T	exonic	TNXB	.	nonsynonymous SNV	TNXB:NM_032470:exon5:c.G826A:p.G276S	Ehlers-Danlos syndrome due to tenascin X deficiency, Autosomal recessive;Vesicoureteral reflux 8, Autosomal dominant	.	46	1439	32	5	0	42	0.0143836	.	.	1683144	not_provided|See_cases	MedGen:C3661900|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.58	T	0.969	D	0.572	P	0.001	D	1.000	D	1.495	L	0.5	T	-1.072	T	0.091	T	0.191	2.825	15.41	4.51	2.551	2.091	11.335	0.137	.	0.0018	0.00339457	0.0068	0.0016	0.0103	0.0017	0.0003	0.0063	0.0075	0.0139	0.0007684	20	26028	rs199688928	0.0039	0.0035	0.0034	0.0043	0.0194	0.0038	0.0037	0.0155	0.0140	0.0004	0.0055	0.0097	0.0003	0.0002	0.0194	0.0032	0.0058	0.0100	0.0032	0.0034	0.0027	0.0037	0.0095	0.0029	0.0028	0.0069	0.0061	0.0005	0	0.0078	0.0082	0.0014	0	0.0106	0.0035	0.0052	0.0095	0.298	0.18000	T	0.0	0.92824	D	.	.	.	.	.	.	0.000500	0.43931	D	0.101185	1	0.81001	D	.	.	.	0.5	0.55608	T	-4.0	0.81269	D	0.428	0.46742	-1.0719	0.09001	T	0.091	0.34847	T	10	0.009701818	0.00218	T	.	.	.	0.137	0.36984	.	.	0.316918214084	0.31302	0.4136048951951291	0.41276	1.07586337657	0.76961	0.59685254097	0.52460	T	0.064485	0.32447	T	-0.471116	0.00837	T	-0.442537	0.28526	T	0.0281921996046609	0.01716	T	0.668433	0.72366	T	0.20872347	0.43117	0.20812012	0.45100	0.20204142	0.42235	0.19100328	0.42534	-6.141	0.47444	T	0.12400312571121505	0.12101	0.297	0.52728	B	.;.;.;.;.	.;.;.;.;.	4.120674	0.61586	24.4	0.9950172087484398	0.68089	0.75628	0.37039	D	AEFGBI	0.269367	0.38566	N	0.186475487493959	0.50551	3.243918	0.191575787999785	0.49384	3.142268	0.170872636974423	0.17733	0.638212	0.43195	0	0.670034	0.63936	0	0.658983	0.55881	0	0.613276	0.41899	0	.	.	5.44	4.51	0.54589	2.440000	0.44513	.	.	0.599000	0.40250	0.294000	0.25270	1.000000	0.68203	0.696000	0.34018	0.0:0.8166:0.1834:0.0	11.335	0.48734	917	0.20147	Fibronectin type III|Fibronectin type III|Fibronectin type III;.;Fibronectin type III|Fibronectin type III|Fibronectin type III;.;Fibronectin type III|Fibronectin type III|Fibronectin type III	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.119	988.81	8	chr6	32043548	.	C	T	988.81	.	AC=5;AF=0.119;AN=42;BaseQRankSum=1.97;DP=252;ExcessHet=0.0409;FS=0.000;InbreedingCoeff=0.2965;MLEAC=5;MLEAF=0.119;MQ=39.42;MQRankSum=0.057;QD=17.05;ReadPosRankSum=-3.950e-01;SOR=0.629	GT:AD:DP:GQ:PL	0/1:8,7:15:99:245,0,289	17	1	3	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	1/2:0,20,15,0,0:35:99:1435,613,552,831,0,1046,1457,631,970,1578,1457,631,970,1578,1578	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	1/2:0,20,15,0,0:35:99:1435,613,552,831,0,1046,1457,631,970,1578,1457,631,970,1578,1578	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	1/2:0,20,15,0,0:35:99:1435,613,552,831,0,1046,1457,631,970,1578,1457,631,970,1578,1578	0	1	4	0
chr6	32405014	32405014	C	T	exonic	BTNL2	.	nonsynonymous SNV	BTNL2:NM_001304561:exon2:c.G352A:p.D118N,	.	.	421	1020	78	3	0	84	0.039548	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	0.17	B	0.058	B	0.000	D	1.000	N	3.315	M	-2.3	D	-0.091	T	0.592	D	0.36	2.009	12.67	4.91	2.755	4.749	16.143	0.474	.	0.0062	0.00439297	0.0111	0.0009	0.0104	0.0005	0.0005	0.0154	0.0206	0.0100	0.0101034	1562	154602	rs143211074	0.0082	0.0082	0.0077	0.0087	0.0579	0.0081	0.0080	0.0528	0.0508	0.0010	0.0129	0.1297	0.0002	0.0003	0.0579	0.0051	0.0175	0.0105	0.0095	0.0095	0.0091	0.0100	0.0184	0.0091	0.0090	0.0166	0.0159	0.0010	0.0351	0.0184	0.1454	0.0015	0.0005	0.0374	0.0069	0.0213	0.0101	0.018	0.50676	D	0.005	0.72224	D	0.17	0.28703	B	0.058	0.26451	B	0.000214	0.47681	D	0.000000	1	0.81001	D	3.75	0.95014	H	-2.3	0.87671	D	-3.92	0.73151	D	0.804	0.79986	-0.0913	0.80298	T	0.592	0.85408	D	10	0.0039207637	0.00075	T	.	.	.	0.474	0.76685	.	.	.	.	0.6442538995369435	0.64360	0.759485905604	0.64176	0.556377768517	0.46756	T	0.125532	0.45130	T	-0.236106	0.15849	T	-0.0983005	0.63528	T	0.0876847104608261	0.10940	T	.	.	.	0.47867396	0.65820	0.461523	0.68731	0.47867396	0.65821	0.461523	0.68731	-7.326	0.56380	T	.	.	0.168	0.37005	B	.;.	.;.	3.349719	0.46200	22.3	0.99564600918578816	0.72014	0.81899	0.41213	D	AEFDBI	0.519369	0.54468	D	0.0408323083134688	0.43721	2.659608	0.0114731822199794	0.40248	2.398883	0.443686818642509	0.20475	0.549168	0.22868	0	0.627178	0.54094	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	4.91	4.91	0.63897	5.474000	0.66508	.	.	0.541000	0.25215	0.998000	0.41325	1.000000	0.68203	0.014000	0.10232	0.0:1.0:0.0:0.0	16.143	0.81356	934	0.15400	Immunoglobulin V-set domain|Immunoglobulin-like domain|Immunoglobulin V-set domain|Immunoglobulin subtype;Immunoglobulin V-set domain|Immunoglobulin-like domain|Immunoglobulin V-set domain|Immunoglobulin subtype	NOTCH4|AGER|AGER|NOTCH4|NOTCH4|AGER|AGER|AGER|HLA-DQA1|NOTCH4|AGER	Adipose_Visceral_Omentum|Artery_Aorta|Brain_Caudate_basal_ganglia|Breast_Mammary_Tissue|Muscle_Skeletal|Nerve_Tibial|Pituitary|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Whole_Blood	HLA-DQA1|HLA-DQA2	Ovary|Ovary	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	16283.53	159	chr6	32405014	.	C	T	16283.53	.	AC=7;AF=0.167;AN=42;BaseQRankSum=0.568;DP=1620;ExcessHet=0.2785;FS=2.492;InbreedingCoeff=0.1429;MLEAC=7;MLEAF=0.167;MQ=60.00;MQRankSum=0.00;QD=16.57;ReadPosRankSum=0.822;SOR=0.539	GT:AD:DP:GQ:PL	0/1:83,75:158:99:1914,0,2260	15	1	5	0
chr6	32519649	32519649	C	0	exonic	HLA-DRB5	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4375	9579.39	39	chr6	32519649	.	C	A,*	9579.39	.	AC=12,2;AF=0.375,0.063;AN=32;BaseQRankSum=4.43;DP=516;ExcessHet=0.0001;FS=2.640;InbreedingCoeff=0.7460;MLEAC=15,1;MLEAF=0.469,0.031;MQ=45.21;MQRankSum=4.41;QD=30.44;ReadPosRankSum=-1.495e+00;SOR=1.344	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,40,0:40:99:1|1:32519613_T_G:1800,120,0,1800,120,1800:32519613	8	5	2	5
chr6	32519650	32519650	A	0	exonic	HLA-DRB5	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4375	9378.63	38	chr6	32519650	.	A	G,*	9378.63	.	AC=12,2;AF=0.375,0.063;AN=32;BaseQRankSum=3.57;DP=510;ExcessHet=0.0001;FS=2.644;InbreedingCoeff=0.7460;MLEAC=15,1;MLEAF=0.469,0.031;MQ=45.16;MQRankSum=4.36;QD=31.47;ReadPosRankSum=-1.495e+00;SOR=1.346	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,40,0:40:99:1|1:32519613_T_G:1800,120,0,1800,120,1800:32519613	8	5	2	5
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|2:0,0,22:22:66:1|1:32521954_G_C:990,990,990,66,66,0:32521954	9	0	2	0
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	0|2:2,0,22,0:24:18:0|1:32521954_G_C:918,924,1008,0,84,18,924,1008,84,1008:32521954	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	0|1:159,25,0:184:99:0|1:32522078_T_A:568,0,6601,1047,6676,7723:32522078	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	1/2:0,106,53,0,52:211:39:.:.:6627,2222,1901,4390,0,4271,6633,2222,4423,6663,4450,39,2240,4480,4323	5	1	0	2
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	1|1:0,157,0,0:157:99:1|1:32530184_T_G:6933,472,0,6897,472,6901,6897,472,6901,6901:32530184	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	3|3:0,0,3,152:155:99:1|1:32530184_T_G:6838,6822,6829,6702,6721,6724,463,463,370,0:32530184	0	1	0	0
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	2|2:4,0,94,0:98:99:1|1:32584151_G_A:4050,4062,4230,115,283,0,4062,4230,283,4230:32584151	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	2|2:3,0,96:99:99:1|1:32584151_G_A:4185,4194,4320,163,289,0:32584151	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|2:3,0,96:99:99:1|1:32584151_G_A:4185,4194,4320,163,289,0:32584151	3	0	1	0
chr6	32584318	32584318	C	0	exonic	HLA-DRB1	.	.	.	.	.	12	1221	160	8	121	297	0.0672269	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2143	3600.15	264	chr6	32584318	.	C	*,T	3600.15	.	AC=7,2;AF=0.167,0.048;AN=42;BaseQRankSum=-8.230e-01;DP=7428;ExcessHet=4.7172;FS=0.567;InbreedingCoeff=-0.2727;MLEAC=7,2;MLEAF=0.167,0.048;MQ=53.39;MQRankSum=-4.724e+00;QD=1.58;ReadPosRankSum=1.92;SOR=0.756	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:105,101,73:279:99:0|1:32584303_T_A:3925,0,4105,1176,1344,5365:32584303	12	0	7	0
chr6	32584352	32584352	C	0	exonic	HLA-DRB1	.	.	.	.	.	1	176	25	0	24	49	0.066313	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1429	3438.47	189	chr6	32584352	.	C	CATGTTTAA,*	3438.47	.	AC=3,3;AF=0.071,0.071;AN=42;BaseQRankSum=3.60;DP=6521;ExcessHet=1.7912;FS=13.879;InbreedingCoeff=-0.1667;MLEAC=3,3;MLEAF=0.071,0.071;MQ=50.14;MQRankSum=-7.080e+00;QD=3.33;ReadPosRankSum=-2.932e+00;SOR=1.619	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:115,0,43:158:99:0|1:32584335_A_G:1422,1768,6597,0,4829,4699:32584335	15	0	3	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|2:0,99,39:138:99:0|1:32584353_C_A:5691,1600,1299,4098,0,4417:32584353	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	0/1:45,53,0,32:130:99:.:.:2024,0,1664,2198,1864,4274,863,534,2988,3135	2	4	8	2
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	0|2:17,0,80:97:99:0|1:32584353_C_A:3308,3359,4073,0,714,473:32584353	2	0	3	2
chr6	32589684	32589684	A	G	exonic	HLA-DRB1	.	nonsynonymous SNV	HLA-DRB1:NM_002124:exon1:c.T59C:p.M20T,	.	.	1	1193	328	0	0	328	0.120855	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	D	0.049	B	0.034	B	0.131	N	1.000	N	1.61	L	8.43	T	-0.941	T	0.000	T	0.415	0.078	4.424	2.05	0.270	1.241	5.311	0.077	.	.	.	0.0009	0.0026	0	0	0.0002	0.0012	0.0011	0.0004	0.0042646	111	26028	rs35053532	0.0006	0.0073	0.0006	0.0007	0.0022	0.0006	0.0006	0.0017	0.0016	0.0005	0.0009	0.0017	0.0008	0.0006	0.0022	0.0005	0.0008	0.0020	0.0010	0.0084	0.0014	0.0007	0.0018	0.0009	0.0008	0.0012	0.0011	0.0005	0.0033	0.0007	0.0032	0.0018	0	0	0.0015	0	0.0004	0.015	0.52492	D	0.163	0.31125	T	0.049	0.22227	B	0.034	0.22546	B	0.130685	0.02806	N	1.753860	0.999999	0.08975	N	.	.	.	8.43	0.00232	T	-2.54	0.55025	D	0.351	0.39254	-0.9412	0.42426	T	0.000	0.00075	T	10	0.023282856	0.00605	T	.	.	.	0.077	0.22490	.	.	0.370240404367	0.36630	0.4121927582371236	0.41135	0.84044661693	0.68037	.	.	.	0.009999	0.09062	T	-0.155507	0.27453	T	-0.461152	0.26474	T	0.0196228360865429	0.00665	T	0.529047	0.17505	T	0.35031834	0.57092	0.4314815	0.66765	0.35031834	0.57092	0.4314815	0.66765	-2.481	0.05653	T	.	.	0.110	0.21353	B	.	.	2.014600	0.25599	16.82	0.8036740669395388	0.13170	0.04417	0.10008	N	ALL	0.194190	0.32128	N	-0.683751231317595	0.16484	0.8402923	-0.710060751366673	0.16710	0.8852588	0.99999996150014	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.584781	0.30282	0	0.687789	0.68303	1	.	.	4.4	2.05	0.25860	1.398000	0.34163	.	.	0.750000	0.87069	0.802000	0.29747	0.000000	0.08366	0.027000	0.12703	0.7604:0.0:0.2396:0.0	5.311	0.15141	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	0.2143	10724.01	323	chr6	32589684	.	A	G	10724.01	.	AC=9;AF=0.214;AN=42;BaseQRankSum=-1.231e+00;DP=4752;ExcessHet=4.7172;FS=0.000;InbreedingCoeff=-0.2727;MLEAC=9;MLEAF=0.214;MQ=49.04;MQRankSum=-7.090e-01;QD=4.29;ReadPosRankSum=0.302;SOR=0.733	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:265,70:335:99:.:.:2142,0,10843	12	0	9	0
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	1|1:0,68,0:68:99:1|1:32641430_C_T:3060,205,0,3060,205,3060:32641430	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	2|2:0,0,68:68:99:1|1:32641430_C_T:3060,3060,3060,205,205,0:32641430	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	1|2:0,25,42:67:99:0|1:32641462_G_*:2903,1770,1688,1056,0,923:32641462	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	1|2:0,25,37:62:99:0|1:32641462_G_*:2738,1563,1478,1059,0,938:32641462	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	1|1:0,116,0,0:116:99:1|1:32641430_C_T:5220,349,0,5220,349,5220,5220,349,5220,5220:32641430	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	1/2:0,67,72,0:139:99:.:.:5965,2222,1824,2308,0,1958,5395,2182,2278,5159	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	1/2:0,67,72,0:139:99:.:.:5965,2222,1824,2308,0,1958,5395,2182,2278,5159	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	1/2:0,143,26:169:99:.:.:7186,1092,653,5952,0,5854	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|1:144,34:178:99:0|1:32664926_G_A:994,0,5915:32664926	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	1/2:0,50,37:87:99:.:.:3769,1475,1299,1536,0,1295	1	1	0	0
chr6	32838190	32838190	A	G	exonic	TAP2	.	nonsynonymous SNV	TAP2:NM_001290043:exon2:c.T44C:p.V15A	Bare lymphocyte syndrome, type I, due to TAP2 deficiency, Autosomal recessive;Wegener-like granulomatosis (3)	.	3	1475	43	1	0	45	0.015025	.	.	363959	not_provided|MHC_class_I_deficiency	MedGen:C3661900|MONDO:MONDO:0011476,MedGen:C1858266,OMIM:PS604571,Orphanet:34592	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.61	T	0.0	B	0.0	B	0.029	N	1.000	N	-1.485	N	-0.17	T	-0.842	T	0.106	T	0.421	-0.158	3.227	-6.99	-1.295	0.003	9.966	0.375	.	0.0096	0.00878594	0.0051	0.0232	0.0020	0.0011	0.0003	0.0014	0.0038	0.0188	0.0044307	685	154602	rs55827768	0.0027	0.0027	0.0023	0.0031	0.0239	0.0026	0.0026	0.0225	0.0219	0.0239	0.0025	0.0003	0.0009	7.746e-05	0.0176	0.0013	0.0034	0.0149	0.0079	0.0080	0.0077	0.0080	0.0222	0.0075	0.0074	0.0210	0.0205	0.0222	0	0.0034	0.0003	0.0016	0	0.0205	0.0020	0.0087	0.0135	0.156	0.24090	T	0.607	0.07919	T	0.0	0.02946	B	0.0	0.01387	B	0.029026	0.01695	N	2.963350	.	.	.	-1.09	0.01018	N	-0.17	0.89430	T	-0.55	0.17624	N	0.058	0.03283	-0.8422	0.52500	T	0.106	0.38661	T	9	0.0048670173	0.00104	T	.	.	.	0.375	0.69358	.	.	0.12205267543	0.11705	0.3536502454149823	0.35279	0.544725754754	0.51518	0.561443984509	0.47472	T	0.050885	0.28723	T	-0.330553	0.06070	T	-0.230008	0.51771	T	0.00156613741159322	0.00016	T	0.591441	0.21800	T	0.02480374	0.01349	0.09237375	0.21765	0.02480374	0.01349	0.09237375	0.21765	-3.706	0.19791	T	.	.	0.061	0.01309	B	.;.;.;.	.;.;.;.	0.986896	0.13646	10.18	0.52241751892269228	0.04711	0.02510	0.07004	N	AEFDGBHCI	0.027632	0.02291	N	-1.91220650019428	0.00324	0.0139159	-1.89227232899798	0.00507	0.02247004	0.999999999999994	0.74766	0.72623	0.87236	0	0.52208	0.09955	0	0.594344	0.31042	0	0.372554	0.06265	0	.	.	4.9	-6.99	0.01449	0.127000	0.15617	.	.	-0.720000	0.03816	0.000000	0.06391	0.000000	0.08366	0.031000	0.13245	0.1696:0.2447:0.5857:0.0	9.966	0.40894	934	0.15400	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.07143	1285.68	37	chr6	32838190	.	A	G	1285.68	.	AC=3;AF=0.071;AN=42;BaseQRankSum=0.913;DP=704;ExcessHet=0.3300;FS=1.472;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=10.99;ReadPosRankSum=-3.690e-01;SOR=0.555	GT:AD:DP:GQ:PL	0/1:27,18:45:99:395,0,606	18	0	3	0
chr6	32843017	32843017	T	A	exonic	PSMB8	.	nonsynonymous SNV	PSMB8:NM_004159:exon2:c.A208T:p.T70S	Autoinflammation, lipodystrophy, and dermatosis syndrome, Autosomal recessive	.	0	1475	46	1	0	48	0.0160107	.	.	455616	not_provided|Proteasome-associated_autoinflammatory_syndrome_1|Autoinflammatory_syndrome|Proteosome-associated_autoinflammatory_syndrome|not_specified	MedGen:C3661900|MONDO:MONDO:0054698,MedGen:C4746851,OMIM:256040,Orphanet:2615,Orphanet:324977,Orphanet:324999,Orphanet:325004|MONDO:MONDO:0019751,MedGen:C3890737,Orphanet:93665|MONDO:MONDO:0009726,MedGen:C1850568,OMIM:PS256040,Orphanet:324977|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.000	D	1.000	D	3.395	M	0.59	T	-0.033	T	0.384	T	0.367	5.483	35	5.91	2.256	7.118	14.295	0.643	.	0.0092	0.00838658	0.0050	0.0216	0.0018	0.0011	0.0003	0.0013	0.0046	0.0160	0.0042626	659	154602	rs17220206	0.0027	0.0027	0.0023	0.0030	0.0214	0.0026	0.0026	0.0201	0.0196	0.0214	0.0023	0.0003	0.0009	5.734e-05	0.0166	0.0013	0.0035	0.0150	0.0075	0.0075	0.0074	0.0076	0.0206	0.0071	0.0070	0.0195	0.0190	0.0206	0	0.0034	0.0003	0.0015	0	0.0204	0.0020	0.0081	0.0133	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.997	0.86255	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.605	0.76211	M	0.59	0.53943	T	-3.53	0.69477	D	0.858	0.85449	-0.0332	0.81562	T	0.384	0.73988	T	10	0.017019004	0.00361	T	.	.	.	0.643	0.86435	0.89	0.97320	0.885233339979	0.88410	0.8480556800380565	0.84766	1.4400113835	0.85953	0.61978495121	0.55699	T	0.246082	0.62314	T	-0.319012	0.06978	T	-0.214759	0.53240	T	0.0301341989451897	0.02010	T	.	.	.	0.68950045	0.77485	0.583038	0.75826	0.83828247	0.86487	0.6417363	0.79067	-7.497	0.58450	T	.	.	0.661	0.75421	P	.;.;.	.;.;.	4.690035	0.75145	26.3	0.99768579147479963	0.85666	0.97844	0.77553	D	AEFDBHCI	0.893998	0.83252	D	0.936276874824718	0.93419	12.028	0.879112616932269	0.94596	12.88621	0.99999999999936	0.74766	0.740716	0.97744	0	0.672317	0.65289	0	0.0	0.00061	3	0.714379	0.83352	0	.	.	5.91	5.91	0.95240	7.197000	0.77336	.	.	0.654000	0.53741	1.000000	0.71638	1.000000	0.68203	0.894000	0.43146	0.0:0.0:0.0:1.0	14.295	0.65858	934	0.15400	.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	6322.68	40	chr6	32843017	.	T	A	6322.68	.	AC=3;AF=0.071;AN=42;BaseQRankSum=2.07;DP=1067;ExcessHet=0.3300;FS=2.252;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=17.81;ReadPosRankSum=-8.850e-01;SOR=0.570	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:64,65:129:99:0|1:32843015_G_T:2537,0,2441:32843015	18	0	3	0
chr6	33069667	33069667	C	T	exonic	HLA-DPA1	.	nonsynonymous SNV	HLA-DPA1:NM_033554:exon2:c.G320A:p.R107H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	D	0.006	B	0.015	B	0.671	N	1.000	N	1.875	L	5.65	T	-0.975	T	0.002	T	0.555	-0.079	3.614	-0.691	-0.362	-0.093	7.763	0.132	0.0111131636767	0.0001	0.000199681	6.022e-05	0.0003	0	0.0001	0.0003	0	0.0011	0	5.17e-05	8	154602	rs149086826	2.534e-05	2.531e-05	2.726e-05	2.34e-05	2.995e-05	1.87e-05	1.632e-05	5.76e-06	4.55e-06	2.995e-05	2.236e-05	0	2.521e-05	0.0004	0	1.08e-05	3.314e-05	1.16e-05	4.598e-05	4.593e-05	2.571e-05	6.716e-05	0.0002	2.109e-05	1.526e-05	.	.	2.407e-05	0	6.546e-05	0	0	0.0003	0	1.47e-05	0	0.0002	0.063	0.40319	T	0.083	0.41405	T	0.006	0.13644	B	0.015	0.17295	B	0.670976	0.10342	N	0.825033	1	0.08975	N	1.62	0.41497	L	5.65	0.00784	T	-2.62	0.56466	D	0.082	0.05799	-0.9753	0.36059	T	0.002	0.00497	T	10	0.043142796	0.03133	T	0.011113	0.28394	T	0.132	0.35948	.	.	0.0138822411134	0.00435	0.2552421852615614	0.25438	0.599553595787	0.55070	0.243579596281	0.03122	T	0.006858	0.06286	T	-0.34345	0.05153	T	-0.482809	0.24147	T	0.0140855069987726	0.00274	T	.	.	.	0.05871771	0.11847	0.14348695	0.34099	0.05871771	0.11846	0.14348695	0.34098	-9.189	0.68905	D	.	.	0.091	0.13969	B	.;.	.;.	1.108176	0.14931	11.45	0.97570889442812847	0.34681	0.05701	0.11622	N	AEFDGBHCI	0.159367	0.28515	N	-1.06870506039676	0.07226	0.335019	-1.18420174802704	0.06173	0.296316	0.999989349103937	0.51787	0.758104	0.99027	0	0.672317	0.65289	0	0.691618	0.62860	0	0.579976	0.35079	0	.	.	3.19	-0.691	0.10737	-0.291000	0.08379	-12.031000	0.00556	-0.193000	0.09282	0.000000	0.06391	0.000000	0.08366	0.134000	0.19723	0.0:0.6331:0.0:0.3669	7.763	0.28126	856	0.34373	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	276.98	41	chr6	33069667	.	C	T	276.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.728;DP=826;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=7.69;ReadPosRankSum=1.55;SOR=0.495	GT:AD:DP:GQ:PL	0/1:24,12:36:99:291,0,699	20	0	1	0
chr6	35499990	35499990	C	T	exonic	TULP1	.	nonsynonymous SNV	TULP1:NM_001289395:exon13:c.G1327A:p.A443T	Leber congenital amaurosis 15, Autosomal recessive;Retinitis pigmentosa 14, Autosomal recessive	.	0	1518	4	0	0	4	0.00131579	.	.	105553	not_provided|Retinitis_pigmentosa|not_specified|Leber_congenital_amaurosis_15	MedGen:C3661900|Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:791|MedGen:CN169374|MONDO:MONDO:0013457,MedGen:C3151206,OMIM:613843,Orphanet:65	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.55	T	0.734	P	0.142	B	0.288	N	1.000	N	1.37	L	-1.93	D	-0.930	T	0.197	T	0.215	1.188	9.829	2.36	0.667	0.379	8.313	0.162	0.0567281754992	0.0006	0.00139776	0.0008	0.0009	0.0026	0.0002	0	0.0006	0.0044	0.0002	0.000815	126	154602	rs141980901	0.0007	0.0007	0.0007	0.0006	0.0059	0.0006	0.0006	0.0043	0.0038	0.0018	0.0031	0	2.519e-05	1.876e-05	0.0059	0.0006	0.0018	0.0003	0.0011	0.0011	0.0010	0.0012	0.0041	0.0009	0.0009	0.0032	0.0030	0.0011	0	0.0041	0	0	0	0.0102	0.0006	0.0043	0.0004	0.37	0.28026	T	0.534	0.09965	T	0.734	0.42776	P	0.142	0.33681	B	0.288193	0.14818	N	0.693516	1	0.08975	N	1.335	0.33326	L	-1.93	0.84842	D	-0.83	0.22944	N	0.365	0.40665	-0.9297	0.44183	T	0.197	0.55244	T	10	0.00881651	0.00200	T	0.056728	0.66708	D	0.162	0.41843	.	.	0.489701598095	0.48602	0.18404921459246015	0.18323	0.569561216324	0.53133	0.38576617837	0.23071	T	0.482576	0.81066	T	-0.385306	0.02883	T	-0.33148	0.41304	T	0.0134067593708728	0.00243	T	0.685131	0.29365	T	0.17921785	0.38981	0.13358398	0.32030	0.23207025	0.45989	0.104276896	0.25040	-6.983	0.54868	T	.	.	0.087	0.15877	B	.;.;.	.;.;.	2.482076	0.32012	18.91	0.96981126134113749	0.31859	0.08946	0.14797	N	AEFBCI	0.098670	0.19877	N	-0.494951574162214	0.22246	1.186466	-0.480431832527787	0.22693	1.233857	0.999995274762245	0.74766	0.660377	0.49826	0	0.563428	0.19063	0	0.696353	0.63694	0	0.63947	0.58350	0	.	.	5.48	2.36	0.28258	-0.083000	0.11250	1.105000	0.24105	0.549000	0.26987	0.000000	0.06391	0.329000	0.24363	0.969000	0.54022	0.2937:0.5688:0.0:0.1375	8.313	0.31247	607	0.67291	.;Tubby, C-terminal;Tubby, 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	0.02381	1109.98	36	chr6	35499990	.	C	T	1109.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.400e-02;DP=832;ExcessHet=0.0000;FS=2.488;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.00;ReadPosRankSum=-1.003e+00;SOR=0.974	GT:AD:DP:GQ:PL	0/1:64,47:111:99:1124,0,1620	20	0	1	0
chr6	35748542	35748542	A	C	exonic	ARMC12	.	nonsynonymous SNV	ARMC12:NM_001286574:exon6:c.A695C:p.H232P	.	.	433	1067	21	1	0	23	0.010663	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.21	T	0.0	B	0.003	B	0.048	N	0.997	N	0.345	N	0.02	T	-1.034	T	0.041	T	0.336	1.570	11.20	1.16	0.228	1.157	3.825	0.059	0.00634508766509	0.0031	0.00219649	0.0021	0.0064	0.0018	0.0001	0.0002	0.0020	0	0.0021	0.0019146	296	154602	rs112217683	0.0014	0.0014	0.0013	0.0015	0.0107	0.0013	0.0013	0.0085	0.0077	0.0059	0.0022	0.0080	2.738e-05	0.0003	0.0107	0.0011	0.0022	0.0019	0.0028	0.0028	0.0029	0.0027	0.0051	0.0026	0.0025	0.0045	0.0043	0.0051	0.0296	0.0018	0.0081	0	0.0002	0.0068	0.0016	0.0047	0.0021	0.237	0.17881	T	0.243	0.24193	T	0.0	0.02946	B	0.003	0.08700	B	0.048323	0.23261	N	0.366698	1	0.22879	N	1.52	0.38360	L	0.02	0.62318	T	3.45	0.00121	N	0.518	0.54845	-1.0344	0.19046	T	0.041	0.17657	T	10	0.0049612224	0.00106	T	0.006345	0.16668	T	0.059	0.16972	.	.	0.397691132334	0.39381	0.5949043647100937	0.59420	0.175494679042	0.19754	0.482856690884	0.36450	T	0.009311	0.08481	T	-0.428359	0.01516	T	-0.385889	0.35032	T	0.00151927204601168	0.00015	T	0.530647	0.17608	T	0.06890074	0.15049	0.06611069	0.13496	0.06890074	0.15049	0.06611069	0.13496	-3.491	0.16306	T	.	.	0.122	0.25560	B	.;.	.;.	1.792031	0.22780	15.76	0.83981245221982426	0.15029	0.15495	0.18940	N	AEFBI	0.160584	0.28653	N	-0.787983469773123	0.13622	0.6724289	-0.731953790953558	0.16168	0.853948	3.23453867622665E-4	0.06540	0.615465	0.37627	0	0.588066	0.40923	0	0.658983	0.55881	0	0.586402	0.36253	0	.	.	4.76	1.16	0.19936	1.160000	0.31372	2.964000	0.35768	0.756000	0.94297	0.363000	0.25867	0.949000	0.28973	0.962000	0.52141	0.4847:0.1954:0.3198:0.0	3.825	0.08363	675	0.60470	.;Armadillo repeat-containing domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1434.98	34	chr6	35748542	.	A	C	1434.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.582;DP=804;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.06;ReadPosRankSum=0.932;SOR=0.725	GT:AD:DP:GQ:PL	0/1:65,54:119:99:1449,0,1707	20	0	1	0
chr6	36748255	36748255	G	C	exonic	CPNE5	.	nonsynonymous SNV	CPNE5:NM_001314018:exon4:c.C108G:p.N36K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.451	B	0.394	B	0.000	D	1.000	D	3.07	M	1.86	T	-1.068	T	0.065	T	0.382	2.768	15.22	1.9	0.513	0.022	7.734	0.198	0.0184351459477	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.368e-06	1.368e-06	1.361e-06	1.375e-06	0.0003	2.3e-07	9e-08	6.092e-05	2.521e-05	0	0	0	0	0	0.0003	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.65419	D	0.018	0.59732	D	0.451	0.36091	B	0.394	0.44277	B	0.000000	0.84330	D	0.000000	0.999978	0.81001	D	3.535	0.93119	H	1.86	0.24285	T	-4.81	0.80767	D	0.924	0.97207	-1.0681	0.09836	T	0.065	0.26878	T	10	0.8305585	0.82219	D	0.018435	0.40505	T	0.198	0.48105	0.587	0.71497	0.475034548194	0.47131	0.8594744290205493	0.85910	1.01557786861	0.74933	0.859850645065	0.91089	D	0.411	0.76529	T	-0.0807826	0.39587	T	-0.353815	0.38767	T	0.936439573764801	0.60543	D	0.916508	0.70155	D	0.4476818	0.63894	0.4206459	0.66021	0.4476818	0.63895	0.4206459	0.66021	-11.073	0.83476	D	.	.	0.725	0.73992	P	.;.	.;.	3.768114	0.54107	23.4	0.99530688489922559	0.69839	0.87117	0.46561	D	AEFDBI	0.559627	0.56836	D	0.0949511372951049	0.46228	2.866361	0.0625792048032881	0.42683	2.586059	0.971472092896552	0.29290	0.706548	0.73137	0	0.723109	0.82256	0	0.578056	0.29568	0	0.714379	0.83352	0	.	.	4.79	1.9	0.24770	0.294000	0.18803	3.809000	0.39901	0.618000	0.50648	0.990000	0.36992	1.000000	0.68203	0.999000	0.91618	0.2963:0.0:0.7036:0.0	7.734	0.27967	851	0.35303	.;von Willebrand factor, type A|von Willebrand factor, type A|Copine	.	.	.	.	.	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	893.98	34	chr6	36748255	.	G	C	893.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.915;DP=800;ExcessHet=0.0000;FS=4.332;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.17;ReadPosRankSum=2.84;SOR=0.750	GT:AD:DP:GQ:PL	0/1:44,36:80:99:908,0,1091	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	0/1:69,36:105:99:160,0,1171	4	0	14	3
chr6	45422775	45422783	GCGGCGGCT	-	exonic	RUNX2	.	nonframeshift deletion	RUNX2:NM_001278478:exon1:c.199_207del:p.A73_A75del	Cleidocranial dysplasia, Autosomal dominant;Cleidocranial dysplasia, forme fruste, dental anomalies only, Autosomal dominant;Cleidocranial dysplasia, forme fruste, with brachydactyly, Autosomal dominant;Metaphyseal dysplasia with maxillary hypoplasia with or without brachydactyly, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1253741091	0	6.848e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1429	13028.27	37	chr6	45422774	.	GGCGGCGGCT	AGCGGCGGCT,G	13028.27	.	AC=5,1;AF=0.119,0.024;AN=42;BaseQRankSum=-2.600e-02;DP=1348;ExcessHet=0.1217;FS=0.000;InbreedingCoeff=0.2222;MLEAC=5,1;MLEAF=0.119,0.024;MQ=60.00;MQRankSum=0.00;QD=17.82;ReadPosRankSum=2.23;SOR=0.665	GT:AD:DP:GQ:PL	0/2:54,0,74:128:99:2812,2975,5168,0,2193,1970	16	1	3	0
chr6	75134783	75134783	C	T	exonic	COL12A1	.	nonsynonymous SNV	COL12A1:NM_080645:exon17:c.G1975A:p.V659I	Bethlem myopathy 2	.	425	1093	4	0	0	4	0.00182648	.	.	456707	Cataract_16_multiple_types|not_provided|Ullrich_congenital_muscular_dystrophy_2|Bethlem_myopathy_2	MONDO:MONDO:0013411,MedGen:C3808377,OMIM:613763,Orphanet:91492,Orphanet:98992,Orphanet:98993,Orphanet:98995|MedGen:C3661900|MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470,Orphanet:75840|MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471,Orphanet:536516,Orphanet:610	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.09	T	0.999	D	0.876	P	0.000	D	0.994	D	1.665	L	-0.51	T	-0.311	T	0.358	T	0.537	4.445	23.7	5.0	1.472	7.294	17.072	0.130	0.0238414859479	0.0002	0.000199681	0.0002	0.0002	0.0005	0	0	0.0003	0	6.058e-05	0.0002458	38	154602	rs201408175	0.0003	0.0003	0.0003	0.0003	0.0019	0.0003	0.0003	0.0011	0.0008	5.977e-05	0.0004	0	5.039e-05	0	0.0019	0.0003	0.0004	0.0002	0.0003	0.0003	0.0003	0.0004	0.0008	0.0003	0.0002	0.0004	0.0004	4.814e-05	0	0.0002	0	0	0	0.0068	0.0006	0.0014	0.0008	0.126	0.27783	T	0.011	0.70582	D	0.999	0.77913	D	0.876	0.62173	P	0.000010	0.62929	D	0.000000	0.994285	0.42226	D	2.195	0.61839	M	-0.51	0.70597	T	-0.34	0.14588	N	0.701	0.70527	-0.3107	0.74685	T	0.358	0.72053	T	10	0.39493054	0.55158	T	0.023841	0.46816	T	0.285	0.60338	.	.	0.64897399116	0.64606	0.31827002040564345	0.31740	0.516357570132	0.49524	0.619515538216	0.55661	T	0.01369	0.39643	T	-0.178368	0.23978	T	-0.166029	0.57806	T	0.0565378317417017	0.06613	T	0.874313	0.58483	D	0.06160066	0.12773	0.081540644	0.18539	0.072060905	0.16002	0.0789776	0.17737	-6.079	0.49071	T	0.6903176469557571	0.76794	0.113	0.25067	B	.;.;.;.;.	.;.;.;.;.	4.704059	0.75506	26.3	0.99842518757665588	0.92316	0.99184	0.92469	D	AEFBI	0.872378	0.79420	D	0.545039620635377	0.69781	5.40592	0.527283067243848	0.69833	5.417013	0.999999999886967	0.74766	0.706548	0.73137	0	0.573888	0.26702	0	0.618467	0.43123	0	0.714379	0.83352	0	.	.	5.87	5.0	0.66209	7.376000	0.78918	7.681000	0.65292	0.596000	0.33519	1.000000	0.71638	1.000000	0.68203	0.956000	0.50813	0.0:0.873:0.127:0.0	17.072	0.86451	845	0.36510	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	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	860.98	33	chr6	75134783	.	C	T	860.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.30;DP=761;ExcessHet=0.0000;FS=2.124;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.45;ReadPosRankSum=0.161;SOR=1.119	GT:AD:DP:GQ:PL	0/1:32,32:64:99:875,0,725	20	0	1	0
chr6	80026478	80026478	C	T	exonic	TTK	.	nonsynonymous SNV	TTK:NM_001166691:exon12:c.C1355T:p.T452I	.	.	.	.	.	.	.	.	.	.	.	3487350	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.13	T	0.991	D	0.894	P	0.000	D	1.000	D	2.045	M	-0.41	T	-0.418	T	0.387	T	0.838	4.440	23.6	6.04	2.873	5.053	19.567	0.297	0.0438156645685	.	.	.	.	.	.	.	.	.	.	.	.	.	rs867273086	1.3e-05	1.3e-05	1.089e-05	1.513e-05	0.0019	8.31e-06	6.7e-06	0.0011	0.0008	2.988e-05	0	0	0	0	0.0019	5.396e-06	1.656e-05	0	6.567e-06	6.562e-06	1.285e-05	0	.	0	0	.	.	0	0	0	0	0	0	0.0034	0	0	0	0.0	0.91255	D	0.011	0.64786	D	0.991	0.64070	D	0.894	0.63417	P	0.000000	0.84330	D	0.000000	1	0.81001	D	2.47	0.71715	M	-0.42	0.69536	T	-2.27	0.50666	N	0.59	0.64648	-0.4185	0.71440	T	0.387	0.74209	T	10	0.50309414	0.61662	D	0.043816	0.61176	D	0.297	0.61730	0.176	0.08257	0.828390268632	0.82676	0.5114555314155442	0.51067	0.622715469703	0.56523	0.557953000069	0.46979	T	0.141971	0.47731	T	0.274715	0.80858	D	0.156832	0.80611	D	0.986854434013367	0.77472	D	0.806719	0.45571	T	0.40764967	0.61259	0.4344065	0.66961	0.40764967	0.61259	0.4344065	0.66962	-7.269	0.56188	T	.	.	0.580	0.68044	P	.;.;.	.;.;.	4.622818	0.73422	26.0	0.99912670609830989	0.98167	0.97514	0.75245	D	AEFDGBI	0.498424	0.53253	N	0.735733998786067	0.81976	7.649444	0.752175416495251	0.86320	8.851313	0.999995089943935	0.74766	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.727631	0.95156	0	.	.	6.04	6.04	0.98025	5.554000	0.66999	7.633000	0.62825	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:1.0:0.0:0.0	19.567	0.95394	837	0.37933	.;.;.	.	.	.	.	.	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	0.04762	3895.08	33	chr6	80026478	.	C	T	3895.08	.	AC=2;AF=0.048;AN=42;DP=820;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;QD=29.96;SOR=0.693	GT:AD:DP:GQ:PL	1/1:0,130:130:99:3923,390,0	20	1	0	0
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	1/1:0,40,0,0:40:99:1728,114,0,1734,120,1740,1734,120,1740,1740	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	1/1:0,40,0,0:40:99:1728,114,0,1734,120,1740,1734,120,1740,1740	3	8	1	0
chr6	93410600	93410600	C	T	exonic	EPHA7	.	nonsynonymous SNV	EPHA7:NM_001288629:exon3:c.G733A:p.A245T	.	.	421	1081	20	0	0	20	0.0091659	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.39	T	0.017	B	0.021	B	0.000	D	0.925	N	0	N	4.42	T	-1.058	T	0.073	T	0.107	1.386	10.57	4.3	1.010	5.865	13.048	0.043	0.0116223800209	0.0009	0.00119808	0.0016	0.0008	0.0014	0	0	0.0017	0	0.0033	0.0014683	227	154602	rs41273629	0.0011	0.0011	0.0011	0.0012	0.0068	0.0011	0.0011	0.0051	0.0045	0.0002	0.0013	0.0022	0.0001	0	0.0068	0.0010	0.0016	0.0034	0.0011	0.0011	0.0011	0.0011	0.0023	0.0010	0.0009	0.0013	0.0012	0.0003	0	0.0018	0.0026	0.0004	0	0	0.0016	0.0014	0.0023	0.538	0.08787	T	1.0	0.07244	T	0.003	0.17573	B	0.002	0.19346	B	0.000000	0.84330	D	0.053473	0.924721	0.27208	N	0.36	0.11994	N	-0.59	0.71543	T	0.65	0.03521	N	0.128	0.12198	-1.0578	0.12311	T	0.073	0.29483	T	10	0.0044355392	0.00091	T	0.011622	0.29427	T	0.043	0.11576	.	.	0.204265027416	0.20035	0.4742936788225149	0.47348	0.382226825231	0.39557	0.694450557232	0.66345	T	0.028586	0.20673	T	-0.490374	0.00647	T	-0.479901	0.24457	T	0.00553933447773177	0.00060	T	0.427757	0.27667	T	0.14621846	0.33482	0.17927508	0.40650	0.14621846	0.33482	0.17927508	0.40650	-4.173	0.29638	T	.	.	0.066	0.02228	B	.;.	.;.	3.397506	0.47066	22.4	0.92953703828481027	0.22526	0.87652	0.47263	D	AEFBI	0.123608	0.23929	N	-0.42491439724956	0.24598	1.32935	-0.190630508207039	0.31880	1.808361	0.0229919285950948	0.13474	0.562547	0.31514	0	0.573888	0.26702	0	0.608884	0.39905	0	0.530356	0.10902	0	.	.	5.46	4.3	0.50540	3.356000	0.51987	5.395000	0.48494	-0.045000	0.17359	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.865:0.135:0.0:0.0	13.048	0.58346	944	0.12746	.;.	.	.	.	.	.	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	5508.08	36	chr6	93410600	.	C	T	5508.08	.	AC=2;AF=0.048;AN=42;DP=1309;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;QD=32.59;SOR=0.753	GT:AD:DP:GQ:PL	1/1:0,169:169:99:5536,507,0	20	1	0	0
chr6	142133919	142133919	G	C	exonic	GJE1	.	nonsynonymous SNV	GJE1:NM_001358410:exon2:c.G109C:p.G37R,	.	.	440	1081	1	0	0	1	0.000462321	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00399361	0.0043	0	0	0	0	0	0	0.0081	0.0005627	87	154602	rs377574229	0.0009	0.0008	0.0005	0.0013	0.0075	0.0008	0.0008	0.0069	0.0067	0	0	0	0	0	0.0007	0	0.0007	0.0075	0.0003	0.0003	0.0002	0.0005	0.0102	0.0003	0.0002	0.0079	0.0071	0	0	0	0	0	0	0	0	0.0005	0.0102	0.069	0.35537	T	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-5.44	0.99100	D	-2.48	0.54059	N	0.882	0.88027	.	.	.	.	.	.	.	0.020428121	0.00471	T	.	.	.	.	.	.	.	0.887454508191	0.88635	0.9275731308719519	0.92735	.	.	.	.	.	0.854756	0.96725	D	0.110782	0.65433	D	0.391481	0.91831	D	.	.	.	0.90391	0.66280	D	0.12756458	0.29848	0.20030251	0.43955	0.12756458	0.29848	0.20030251	0.43954	-7.627	0.58499	D	.	.	0.496	0.64408	A	.	.	3.112814	0.41995	21.5	0.99876688417298487	0.95328	0.98410	0.82490	D	AEFBI	0.781590	0.71313	D	.	.	.	.	.	.	0.8191901650957	0.24493	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.530356	0.10902	0	.	.	4.6	3.73	0.41982	7.180000	0.77215	2.449000	0.32805	-0.170000	0.11276	1.000000	0.71638	0.997000	0.33255	0.017000	0.10941	0.0:0.1456:0.8544:0.0	14.775	0.69335	912	0.21483	Connexin, N-terminal	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	2496.08	35	chr6	142133919	.	G	C	2496.08	.	AC=2;AF=0.048;AN=42;DP=777;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;QD=28.36;SOR=0.739	GT:AD:DP:GQ:PL	1/1:0,88:88:99:2524,264,0	20	1	0	0
chr6	151808141	151808141	G	A	exonic	ESR1	.	nonsynonymous SNV	ESR1:NM_000125:exon1:c.G229A:p.G77S	Estrogen resistance, Autosomal recessive	.	427	1089	6	0	0	6	0.00274725	.	.	710266	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	1	T	0.982	D	0.684	P	0.066	N	0.996	N	0.02	N	1.9	T	-1.040	T	0.013	T	0.325	-0.977	0.296	2.39	0.917	3.397	6.239	0.065	.	.	0.0101837	0.0080	0	0.0007	0	0	0	0.0021	0.0448	0.004379	677	154602	rs9340773	0.0020	0.0020	0.0012	0.0029	0.0322	0.0019	0.0019	0.0312	0.0308	5.997e-05	6.874e-05	0	5.091e-05	0	0.0005	2.166e-05	0.0025	0.0322	0.0013	0.0013	0.0007	0.0018	0.0389	0.0011	0.0011	0.0344	0.0326	2.405e-05	0	0	0	0	0	0	2.94e-05	0	0.0389	0.607	0.13392	T	0.991	0.06245	T	0.002	0.60036	B	0.008	0.53582	B	0.066110	0.21833	N	0.492423	0.999995	0.08975	N	0.575	0.15311	N	1.9	0.23486	T	0.17	0.13418	N	0.05	0.03613	-1.0400	0.17313	T	0.013	0.04938	T	10	0.0039296746	0.00075	T	.	.	.	0.065	0.18881	0.318	0.29581	0.564498030773	0.56112	0.3525155672593435	0.35165	0.530958695395	0.50617	0.644199609756	0.59161	T	0.225539	0.61348	T	-0.49393	0.00618	T	-0.456511	0.26981	T	0.10807671511495	0.13223	T	0.847515	0.61165	T	0.05465222	0.10516	0.086010166	0.19898	0.075412534	0.16988	0.08811764	0.20524	-4.061	0.24713	T	.	.	0.064	0.04975	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	1.757245	0.22349	15.58	0.89497994789974034	0.18848	0.35450	0.25304	N	AEFDBHCIJ	0.131410	0.25033	N	-0.64713500421089	0.17544	0.9036566	-0.556495123247152	0.20634	1.112558	0.999987091802423	0.51787	0.437478	0.07067	0	0.563428	0.19063	0	0.606814	0.37721	0	0.554799	0.18163	0	.	.	4.64	2.39	0.28492	3.482000	0.52951	2.725000	0.34343	0.676000	0.76740	0.998000	0.41325	0.998000	0.33993	0.061000	0.16044	0.4327:0.0:0.5673:0.0	6.239	0.19991	740	0.53092	.;.;.;.;.;.;Nuclear hormone receptor, ligand-binding domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1094.98	35	chr6	151808141	.	G	A	1094.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.830;DP=961;ExcessHet=0.0000;FS=5.065;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.29;ReadPosRankSum=-1.340e-01;SOR=0.776	GT:AD:DP:GQ:PL	0/1:52,45:97:99:1109,0,1242	20	0	1	0
chr6	152230553	152230553	G	C	exonic	SYNE1	.	nonsynonymous SNV	SYNE1:NM_033071:exon114:c.C20976G:p.D6992E	Emery-Dreifuss muscular dystrophy 4, autosomal dominant, Autosomal dominant;Spinocerebellar ataxia, autosomal recessive 8, Autosomal recessive	.	1	1516	4	0	1	5	0.00131752	.	.	489609	Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant|Autosomal_recessive_ataxia,_Beauce_type|not_provided	MONDO:MONDO:0013071,MedGen:C2751807,OMIM:612998,Orphanet:261|MONDO:MONDO:0012549,MedGen:C1853116,OMIM:610743,Orphanet:88644|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.15	T	0.746	P	0.505	P	0.000	D	1.000	D	1.62	L	0.81	T	-0.993	T	0.074	T	0.374	2.400	13.98	4.74	1.367	0.972	4.416	0.100	0.0105410676601	.	0.000199681	5.766e-05	0	0.0004	0	0	1.498e-05	0	6.056e-05	5.17e-05	8	154602	rs139062689	4.789e-05	4.788e-05	5.309e-05	4.263e-05	0.0005	3.86e-05	3.54e-05	0.0002	0.0002	0	0.0004	0	0	0	0.0005	3.777e-05	8.279e-05	3.478e-05	3.283e-05	3.281e-05	2.57e-05	4.028e-05	0.0003	1.26e-05	7.98e-06	8.873e-05	5.283e-05	0	0	0.0003	0	0	0	0	1.47e-05	0	0	0.058	0.38407	T	0.232	0.25987	T	0.746	0.43152	P	0.501	0.47677	P	0.000008	0.62929	D	0.000000	0.814999	0.36401	D	1.7	0.43825	L	0.81	0.48460	T	-3.36	0.66549	D	0.327	0.36779	-0.9926	0.31933	T	0.074	0.29739	T	10	0.085320264	0.14392	T	0.010541	0.27195	T	0.100	0.28662	0.314	0.28935	0.421060224861	0.41726	0.13540800669426512	0.13464	0.133278405636	0.15006	0.586663663387	0.51024	T	0.235252	0.60246	T	-0.354496	0.04451	T	-0.392952	0.34205	T	0.193618869421115	0.20055	T	0.884611	0.60805	D	0.27449328	0.50514	0.26550147	0.52383	0.27449328	0.50514	0.26550147	0.52382	-5.442	0.41321	T	.	.	0.203	0.42820	B	.;.;.	.;.;.	2.460693	0.31700	18.82	0.98743734929636806	0.45542	0.97730	0.76719	D	AEFBI	0.408638	0.48024	N	0.201461489910646	0.51269	3.309607	0.246964420618467	0.52476	3.422271	0.0250326169195899	0.13620	0.562547	0.31514	0	0.653731	0.59785	0	0.602189	0.34648	0	0.635551	0.53088	0	.	.	5.6	4.74	0.59717	1.031000	0.29773	3.479000	0.38635	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.948000	0.49324	0.2088:0.0:0.6163:0.1749	4.416	0.10885	866	0.32446	.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	855.98	34	chr6	152230553	.	G	C	855.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.198;DP=777;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.70;ReadPosRankSum=-1.829e+00;SOR=0.772	GT:AD:DP:GQ:PL	0/1:44,36:80:99:870,0,1084	20	0	1	0
chr6	152430487	152430487	T	C	exonic	SYNE1	.	nonsynonymous SNV	SYNE1:NM_033071:exon35:c.A4705G:p.R1569G	Emery-Dreifuss muscular dystrophy 4, autosomal dominant, Autosomal dominant;Spinocerebellar ataxia, autosomal recessive 8, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.38	T	0.102	B	0.031	B	0.460	N	1.000	N	1.245	L	0.69	T	-1.020	T	0.039	T	0.256	0.956	8.897	3.05	0.429	0.170	8.299	0.044	0.0132726760451	7.7e-05	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs370852402	5.474e-06	5.472e-06	4.085e-06	6.877e-06	0.0005	2.36e-06	1.7e-06	0.0001	7.544e-05	0	0	0	0	0	0.0005	3.598e-06	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.088	0.34982	T	0.243	0.37730	T	0.015	0.25827	B	0.015	0.21939	B	0.460380	0.12399	N	0.747348	1	0.08975	N	2.14	0.59869	M	0.69	0.51714	T	-3.49	0.68056	D	0.276	0.35301	-1.0198	0.23780	T	0.039	0.16806	T	10	0.10978812	0.20494	T	0.013273	0.32542	T	0.044	0.11924	.	.	0.367612772649	0.36367	0.09791945007962825	0.09722	0.178643808074	0.20102	0.238798081875	0.02683	T	0.538607	0.84161	D	-0.171454	0.25013	T	-0.484058	0.24015	T	0.197325617074966	0.20267	T	0.871113	0.60266	D	0.17846175	0.38867	0.20661245	0.44884	0.17846175	0.38867	0.20661245	0.44883	-5.264	0.39586	T	.	.	0.077	0.07889	B	.;.;.;.	.;.;.;.	1.800227	0.22880	15.80	0.95721570638539377	0.27646	0.09849	0.15511	N	AEFGI	0.198522	0.32538	N	-0.63811962347955	0.17808	0.9194851	-0.570154527239195	0.20273	1.091484	0.0012108428971577	0.08334	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.57	3.05	0.34272	0.173000	0.16538	1.951000	0.29885	0.661000	0.55757	0.000000	0.06391	0.032000	0.21310	0.892000	0.42986	0.0:0.0663:0.2486:0.6851	8.299	0.31164	748	0.52143	.;.;.;.	.	.	.	.	.	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	895.98	35	chr6	152430487	.	T	C	895.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-9.190e-01;DP=800;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.79;ReadPosRankSum=-9.580e-01;SOR=0.674	GT:AD:DP:GQ:PL	0/1:44,32:76:99:910,0,1342	20	0	1	0
chr6	160089117	160089117	G	A	exonic	IGF2R	.	nonsynonymous SNV	IGF2R:NM_000876:exon43:c.G6331A:p.D2111N,	Hepatocellular carcinoma, somatic	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.64	T	0.247	B	0.116	B	0.006	N	0.986	N	0.86	L	1.41	T	-0.995	T	0.018	T	0.054	1.870	12.21	3.12	1.243	3.024	8.074	0.059	0.00870898985313	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.846e-07	6.84e-07	1.362e-06	0	8.998e-07	0	0	.	.	0	0	0	0	0	0	8.998e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.392	0.10766	T	0.628	0.07244	T	0.247	0.31125	B	0.116	0.31939	B	0.005943	0.32383	N	0.374584	0.986407	0.24620	N	.	.	.	1.41	0.33412	T	-0.56	0.17003	N	0.182	0.19728	-0.9945	0.31432	T	0.018	0.07329	T	10	0.14094767	0.26786	T	0.008709	0.23001	T	0.059	0.16972	0.485	0.56780	0.443848435703	0.44006	0.4373374690871261	0.43650	0.42472068864	0.42894	0.438783824444	0.30411	T	0.068233	0.33405	T	-0.292239	0.09411	T	-0.657557	0.08432	T	0.925696492195129	0.58756	D	0.734827	0.35112	T	0.051410485	0.09436	0.033761263	0.02324	0.051410485	0.09436	0.033761263	0.02324	-4.731	0.33777	T	.	.	0.089	0.12037	B	.;.	.;.	3.832123	0.55402	23.6	0.9929326377735157	0.58362	0.96532	0.69610	D	AEFDBIJ	0.251582	0.37142	N	-0.263954863596965	0.30550	1.704517	-0.128397708440206	0.34251	1.968077	0.999996216607363	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.03	3.12	0.34986	2.731000	0.47015	3.820000	0.39948	0.676000	0.76740	0.997000	0.40164	1.000000	0.68203	0.979000	0.57723	0.0809:0.0:0.7629:0.1562	8.074	0.29867	599	0.68140	.;.	.	.	.	.	.	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	0.02381	456.98	33	chr6	160089117	.	G	A	456.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.99;DP=742;ExcessHet=0.0000;FS=1.182;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.93;ReadPosRankSum=-3.680e-01;SOR=0.914	GT:AD:DP:GQ:PL	0/1:27,19:46:99:471,0,600	20	0	1	0
chr6	168065011	168065011	C	T	exonic	FRMD1	.	nonsynonymous SNV	FRMD1:NM_001122841:exon5:c.G304A:p.V102M	.	.	415	1105	2	0	0	2	0.000904159	.	.	626160	not_specified	MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0	D	1.0	D	0.999	D	0.000	U	1.000	D	2.71	M	1.27	T	-0.621	T	0.183	T	0.662	2.551	14.49	2.75	1.364	4.612	13.550	0.358	0.0144641483467	.	.	0.0002	0.0001	0.0004	0	0	0.0002	0	0.0004	0.0001746	27	154602	rs199740559	0.0001	0.0001	0.0001	0.0001	0.0005	0.0001	9.919e-05	0.0001	0.0001	8.962e-05	0.0002	0	0	1.949e-05	0.0005	0.0001	0.0002	0.0002	0.0001	0.0001	0.0001	0.0002	0.0002	8.662e-05	7.255e-05	0.0001	7.893e-05	7.236e-05	0	0.0001	0.0003	0	0	0	0.0002	0.0010	0	0.001	0.78490	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.000041	0.53742	U	0.000000	0.999849	0.81001	D	2.74	0.80084	M	1.27	0.36146	T	-2.72	0.60188	D	0.736	0.75374	-0.6205	0.63968	T	0.183	0.53179	T	10	0.73326445	0.74445	D	0.014464	0.34591	T	0.358	0.67872	0.779	0.90388	0.445910236696	0.44209	0.21516393053196156	0.21432	0.515842005414	0.49482	0.640192747116	0.58592	T	0.437864	0.78373	T	-0.162723	0.26342	T	-0.175325	0.56954	T	0.588488221168518	0.35947	D	0.976402	0.92190	D	0.4787942	0.65827	0.5127333	0.71843	0.4787942	0.65828	0.5127333	0.71844	-8.97	0.67903	D	.	.	0.487	0.68301	A	.;.;.;.;.	.;.;.;.;.	3.706595	0.52895	23.3	0.99721717771122664	0.82125	0.90899	0.52472	D	AEFDBI	0.775216	0.70870	D	0.262098971186279	0.54242	3.590075	0.0418547285266237	0.41679	2.508131	0.999999975370294	0.74766	0.514905	0.20481	0	0.547309	0.14657	0	0.603688	0.36954	0	0.613276	0.41899	0	.	.	2.75	2.75	0.31439	4.903000	0.62964	2.276000	0.31865	0.310000	0.19122	1.000000	0.71638	0.935000	0.28640	0.110000	0.18741	0.0:1.0:0.0:0.0	13.550	0.61189	988	0.01987	FERM central domain|FERM domain|Band 4.1 domain|FERM central domain;FERM central domain|FERM domain|Band 4.1 domain|FERM central domain;FERM central domain|FERM domain|Band 4.1 domain|FERM central domain;.;FERM central domain|FERM domain|Band 4.1 domain|FERM central 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	783.98	34	chr6	168065011	.	C	T	783.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.760e-01;DP=759;ExcessHet=0.0000;FS=0.954;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.44;ReadPosRankSum=0.372;SOR=0.880	GT:AD:DP:GQ:PL	0/1:30,33:63:99:798,0,733	20	0	1	0
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|1:0,54,0:54:99:1|1:170561949_GCAA_G:2235,166,0,2536,435,4338:170561949	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	1|2:0,46,25:71:99:1|0:170561949_GCAA_G:3725,983,737,1789,0,1576:170561949	1	1	3	2
chr6	170561967	170561967	G	0	exonic	TBP	.	.	.	Spinocerebellar ataxia 17, Autosomal dominant	.	46	879	60	4	533	601	0.0372399	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1905	1014.59	36	chr6	170561967	.	G	*,A	1014.59	.	AC=7,1;AF=0.167,0.024;AN=42;BaseQRankSum=0.850;DP=1725;ExcessHet=0.5418;FS=3.273;InbreedingCoeff=0.0735;MLEAC=7,1;MLEAF=0.167,0.024;MQ=60.00;MQRankSum=0.00;QD=1.78;ReadPosRankSum=2.63;SOR=0.490	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:47,28,0:78:99:.:.:1303,0,1563,1455,1710,3382	14	1	5	0
chr7	2513251	2513251	-	GATG	exonic	LFNG	.	frameshift insertion	LFNG:NM_001166355:exon2:c.142_143insGATG:p.E56Gfs*2,	.	.	6	688	570	158	100	986	0.391689	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2143	18008.05	36	chr7	2513247	.	AGATG	AGATGGATG,A	18008.05	.	AC=8,2;AF=0.190,0.048;AN=42;BaseQRankSum=1.07;DP=1568;ExcessHet=1.5138;FS=0.554;InbreedingCoeff=-0.0500;MLEAC=8,2;MLEAF=0.190,0.048;MQ=60.00;MQRankSum=0.00;QD=23.54;ReadPosRankSum=-8.200e-02;SOR=0.731	GT:AD:DP:GQ:PL	0/2:59,0,35:94:99:1257,1435,3891,0,2456,2349	12	0	7	0
chr7	2709814	2709814	C	T	exonic	AMZ1	.	stopgain	AMZ1:NM_001321766:exon6:c.C946T:p.Q316X	.	.	.	.	.	.	.	.	.	0.0271	0.352	.	.	.	.	.	.	.	.	.	.	.	.	.	0.12	T	0.275	B	0.055	B	.	.	1.000	D	.	.	1.15	T	-1.023	T	0.081	T	.	5.971	36	3.71	0.724	1.401	11.196	0.034	.	.	.	1.83e-05	0	0	0	0	0	0	0.0001	1.29e-05	2	154602	rs775205874	3.426e-06	3.42e-06	1.364e-06	5.509e-06	4.644e-05	1e-06	7.3e-07	1.584e-05	9.31e-06	0	0	0	2.52e-05	0	0	0	0	4.644e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.292	0.20877	T	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	1.15	0.38236	T	-0.35	0.12847	N	0.537	0.56489	-1.0229	0.22769	T	0.081	0.31854	T	8	0.2897116	0.46552	T	.	.	.	0.034	0.08419	0.261	0.20473	0.369682402691	0.36581	.	.	.	.	.	.	.	.	.	.	-0.146231	0.28905	T	-0.244228	0.50385	T	0.957056760787964	0.64912	D	0.349965	0.07784	T	.	.	.	.	.	.	.	.	-4.322	0.28484	T	.	.	0.093	0.14062	B	.	.	10.879386	0.99867	50	0.99187657225019477	0.54877	0.78945	0.39030	D	ALL	0.798790	0.72524	D	0.288042686315133	0.55541	3.718219	0.113581543119421	0.45243	2.790894	0.999999999999998	0.74766	0.648878	0.45929	0	0.374146	0.05931	1	0.298653	0.05632	1	0.636	0.56748	0	.	.	4.86	3.71	0.41733	1.419000	0.34400	4.502000	0.43614	-0.233000	0.07663	1.000000	0.71638	1.000000	0.68203	0.892000	0.42986	0.6933:0.3067:0.0:0.0	11.196	0.47939	970	0.06235	.	.	.	.	.	.	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	509.98	25	chr7	2709814	.	C	T	509.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.915e+00;DP=684;ExcessHet=0.0000;FS=5.301;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.17;ReadPosRankSum=0.835;SOR=0.206	GT:AD:DP:GQ:PL	0/1:15,21:36:99:524,0,452	20	0	1	0
chr7	4145895	4145895	G	A	exonic	SDK1	.	nonsynonymous SNV	SDK1:NM_152744:exon29:c.G4402A:p.V1468I,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	0.928	P	0.596	P	0.000	D	1.000	D	0.975	L	0.6	T	-0.776	T	0.175	T	0.433	4.161	21.5	4.96	2.296	9.287	17.217	0.206	0.0457165802063	.	.	.	.	.	.	.	.	.	.	.	.	.	rs910136081	6.264e-05	6.43e-05	6.987e-05	5.534e-05	7.856e-05	5.193e-05	4.81e-05	6.424e-05	6.02e-05	0	2.296e-05	0	5.131e-05	0	0	7.856e-05	1.667e-05	0	2.02e-05	1.987e-05	2.626e-05	1.382e-05	2.993e-05	5.37e-06	2.49e-06	4.97e-06	1.86e-06	0	0	0	0	0	9.566e-05	0	2.993e-05	0	0	0.0	0.91255	D	0.058	0.46406	T	0.532	0.51611	P	0.076	0.50617	B	0.000011	0.62929	D	0.000000	0.999994	0.58761	D	0.705	0.18577	N	0.6	0.53731	T	-0.97	0.25770	N	0.758	0.77413	-0.7759	0.56531	T	0.175	0.51864	T	10	0.58609253	0.66119	D	0.045717	0.62114	D	0.206	0.49396	0.25	0.18757	0.451407941134	0.44763	0.377245756200966	0.37639	0.260186088043	0.28586	0.556953191757	0.46837	T	0.098544	0.40247	T	-0.162423	0.26388	T	-0.245384	0.50271	T	0.84048193693161	0.49367	D	0.950805	0.81197	D	0.3782728	0.59191	0.3448563	0.60177	0.3782728	0.59192	0.3448563	0.60176	-4.776	0.34310	T	.	.	0.161	0.35477	B	.;.;.	.;.;.	4.525166	0.70989	25.6	0.99840109633155272	0.92057	0.99042	0.90377	D	AEFDGBI	0.879201	0.80499	D	0.343435904743714	0.58394	4.011331	0.418668392286744	0.62726	4.493233	0.999999999948466	0.74766	0.653281	0.48532	0	0.573888	0.26702	0	0.675528	0.61593	0	0.567892	0.33627	0	.	.	4.96	4.96	0.65153	9.468000	0.96835	9.666000	0.81207	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.795000	0.37519	0.0:0.0:1.0:0.0	17.217	0.86829	952	0.10565	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	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	974.98	36	chr7	4145895	.	G	A	974.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.15;DP=794;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.93;ReadPosRankSum=-1.805e+00;SOR=0.798	GT:AD:DP:GQ:PL	0/1:28,42:70:99:989,0,486	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	0/1:29,18,0:47:99:.:.:403,0,804,490,857,1347	0	6	14	0
chr7	5313187	5313187	A	0	exonic	TNRC18	.	.	.	.	.	336	1098	17	2	69	90	0.00947226	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09524	896.95	40	chr7	5313187	.	A	G,*	896.95	.	AC=3,1;AF=0.071,0.024;AN=42;BaseQRankSum=0.388;DP=931;ExcessHet=0.6776;FS=0.604;InbreedingCoeff=-0.1053;MLEAC=3,1;MLEAF=0.071,0.024;MQ=59.20;MQRankSum=-5.399e+00;QD=3.14;ReadPosRankSum=2.54;SOR=0.619	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:61,11,0:72:99:0|1:5313187_A_G:278,0,2457,462,2490,2952:5313187	17	0	3	0
chr7	5313194	5313196	CCA	-	exonic	TNRC18	.	nonframeshift deletion	TNRC18:NM_001080495:exon27:c.7695_7697del:p.G2566del,	.	.	337	1109	10	1	65	77	0.00538117	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0027	0.0015	0.0030	0	0	0.0002	0	0.0053	3.84e-05	1	26028	rs764373181	0.0003	0.0007	0.0001	0.0004	0.0041	0.0003	0.0003	0.0037	0.0036	0	0.0003	0	0	2.147e-05	0.0015	4.467e-05	0.0003	0.0041	0.0001	0.0006	0.0001	0.0002	0.0023	9.767e-05	8.277e-05	0.0013	0.0010	0	0	0.0001	0	0	0	0	0.0001	0	0.0023	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	666.24	40	chr7	5313193	.	GCCA	G,*	666.24	.	AC=2,1;AF=0.048,0.024;AN=42;BaseQRankSum=-2.530e-01;DP=931;ExcessHet=0.3300;FS=0.000;InbreedingCoeff=-0.0769;MLEAC=2,1;MLEAF=0.048,0.024;MQ=59.22;MQRankSum=-5.476e+00;QD=3.03;ReadPosRankSum=3.05;SOR=0.631	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:63,11,0:74:99:0|1:5313187_A_G:272,0,2541,462,2574,3036:5313187	18	0	2	0
chr7	5313193	5313196	GCCA	0	exonic	TNRC18	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	666.24	40	chr7	5313193	.	GCCA	G,*	666.24	.	AC=2,1;AF=0.048,0.024;AN=42;BaseQRankSum=-2.530e-01;DP=931;ExcessHet=0.3300;FS=0.000;InbreedingCoeff=-0.0769;MLEAC=2,1;MLEAF=0.048,0.024;MQ=59.22;MQRankSum=-5.476e+00;QD=3.03;ReadPosRankSum=3.05;SOR=0.631	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:63,11,0:74:99:0|1:5313187_A_G:272,0,2541,462,2574,3036:5313187	18	0	2	0
chr7	5313195	5313195	C	T	exonic	TNRC18	.	nonsynonymous SNV	TNRC18:NM_001080495:exon27:c.G7696A:p.G2566S,	.	.	338	1102	6	0	76	82	0.00271493	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.0	B	0.001	B	.	.	0.970	N	-1.04	N	3.61	T	-0.972	T	0.021	T	0.281	-2.230	0.005	-1.05	-0.388	0.181	7.080	0.019	0.566132589096	.	.	0.0003	0	0	0	0	0	0	0.0007	.	.	.	rs1219465497	4.69e-05	0.0001	4.547e-05	4.837e-05	0.0004	3.77e-05	3.435e-05	0.0003	0.0003	3.174e-05	0	0	0.0002	0	0.0002	2.049e-05	3.475e-05	0.0004	2.64e-05	9.222e-05	2.578e-05	2.705e-05	0.0002	8.17e-06	5.16e-06	.	.	0	0	6.578e-05	0	0.0002	0	0	1.477e-05	0	0.0002	1.0	0.00964	T	0.725	0.05256	T	0.0	0.02946	B	0.001	0.04355	B	.	.	.	.	1	0.08975	N	-0.805	0.01590	N	3.61	0.04446	T	0.32	0.03955	N	0.08	0.09490	-0.9716	0.36862	T	0.021	0.08732	T	9	0.037908286	0.02174	T	0.566133	0.96059	D	0.019	0.03383	0.341	0.33302	0.043077524339	0.03247	0.08017200187297086	0.07952	0.532972911341	0.50740	0.694028973579	0.66284	T	0.003271	0.02677	T	-0.305229	0.08175	T	-0.676217	0.07216	T	0.00504245816284424	0.00054	T	0.40486	0.10377	T	0.0329393	0.03415	0.060975783	0.11699	0.0329393	0.03415	0.060975783	0.11699	0.738	0.00169	T	.	.	0.049	0.00120	B	.;.	.;.	-0.749459	0.01211	0.060	0.69442881910546073	0.08974	0.01164	0.04193	N	AEFDGBHCI	0.027282	0.02201	N	-1.27617096913996	0.03964	0.178059	-1.33243786506907	0.04017	0.1886088	0.00213243111244773	0.09181	0.580535	0.33130	0	0.550933	0.16991	0	0.576033	0.28219	0	0.491896	0.07777	0	.	.	4.38	-1.05	0.09523	-0.047000	0.11917	-0.402000	0.09404	-0.317000	0.05909	0.000000	0.06391	0.000000	0.08366	0.164000	0.20782	0.0:0.4146:0.1264:0.459	7.080	0.24402	946	0.12043	.;.	.	.	.	.	.	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	0.09524	219.24	40	chr7	5313195	.	C	T,*	219.24	.	AC=1,3;AF=0.024,0.071;AN=42;BaseQRankSum=0.807;DP=935;ExcessHet=0.6776;FS=0.598;InbreedingCoeff=-0.1053;MLEAC=1,3;MLEAF=0.024,0.071;MQ=59.04;MQRankSum=-4.350e+00;QD=0.75;ReadPosRankSum=3.05;SOR=0.638	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:63,0,11:74:99:0|1:5313187_A_G:272,462,3036,0,2574,2541:5313187	17	0	1	0
chr7	5313195	5313195	C	0	exonic	TNRC18	.	.	.	.	.	338	1102	6	0	76	82	0.00271493	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09524	219.24	40	chr7	5313195	.	C	T,*	219.24	.	AC=1,3;AF=0.024,0.071;AN=42;BaseQRankSum=0.807;DP=935;ExcessHet=0.6776;FS=0.598;InbreedingCoeff=-0.1053;MLEAC=1,3;MLEAF=0.024,0.071;MQ=59.04;MQRankSum=-4.350e+00;QD=0.75;ReadPosRankSum=3.05;SOR=0.638	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:63,0,11:74:99:0|1:5313187_A_G:272,462,3036,0,2574,2541:5313187	17	0	1	0
chr7	5313196	5313196	A	0	exonic	TNRC18	.	.	.	.	.	342	1098	6	0	76	82	0.0027248	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09524	219.24	40	chr7	5313196	.	A	G,*	219.24	.	AC=1,3;AF=0.024,0.071;AN=42;BaseQRankSum=1.86;DP=935;ExcessHet=0.6776;FS=0.598;InbreedingCoeff=-0.1053;MLEAC=1,3;MLEAF=0.024,0.071;MQ=59.04;MQRankSum=-4.350e+00;QD=0.75;ReadPosRankSum=3.12;SOR=0.638	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:63,0,11:74:99:0|1:5313187_A_G:272,462,3036,0,2574,2541:5313187	17	0	1	0
chr7	5313199	5313199	A	0	exonic	TNRC18	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09524	926.95	40	chr7	5313199	.	A	G,*	926.95	.	AC=3,1;AF=0.071,0.024;AN=42;BaseQRankSum=0.392;DP=926;ExcessHet=0.6776;FS=0.000;InbreedingCoeff=-0.1053;MLEAC=3,1;MLEAF=0.071,0.024;MQ=59.13;MQRankSum=-5.182e+00;QD=3.30;ReadPosRankSum=2.96;SOR=0.655	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:56,11,0:67:99:0|1:5313187_A_G:293,0,2318,462,2351,2813:5313187	17	0	3	0
chr7	5986829	5986829	T	C	exonic	PMS2	.	nonsynonymous SNV	PMS2:NM_001322008:exon9:c.A1618G:p.R540G	Colorectal cancer, hereditary nonpolyposis, type 4;Mismatch repair cancer syndrome, Autosomal recessive	YES	.	.	.	.	.	.	.	.	.	833743	Lynch_syndrome_4|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms	MONDO:MONDO:0013699,MedGen:C1838333,OMIM:614337,Orphanet:144|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MeSH:D003123,MedGen:C0009405	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.15	T	1.0	D	0.999	D	0.000	D	1.000	D	2.295	M	0.97	T	-0.734	T	0.238	T	0.921	2.673	14.90	3.33	0.421	2.214	12.597	0.355	0.117213935038	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.843e-07	6.84e-07	0	1.376e-06	8.995e-07	0	0	.	.	0	0	0	0	0	0	8.995e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.012	0.65419	D	0.048	0.48594	D	0.979	0.90584	D	0.833	0.92359	P	0.000000	0.84330	D	0.000000	0.999919	0.81001	D	2.81	0.81869	M	0.97	0.42502	T	-4.54	0.81107	D	0.844	0.83987	-0.7335	0.58786	T	0.238	0.60607	T	10	0.3921356	0.54967	T	0.117214	0.79693	D	0.355	0.67600	0.373	0.38503	0.723048560196	0.72059	0.5959563753458492	0.59525	0.296104068149	0.31993	0.388001412153	0.23389	T	0.316536	0.68806	T	0.226339	0.76376	D	0.0873442	0.76068	D	0.981092631816864	0.73718	D	0.906909	0.67118	D	0.5796098	0.71587	0.39073834	0.63862	0.5796098	0.71588	0.39073834	0.63862	-10.463	0.76634	D	0.5979010227625151	0.66483	0.472	0.69534	A	.;.;.;.;.	.;.;.;.;.	3.301441	0.45322	22.1	0.99713166144396814	0.81493	0.91004	0.52673	D	AEFBI	0.309300	0.41564	N	0.205505879174559	0.51465	3.327566	0.0894206663040702	0.44013	2.691503	3.52874101178162E-4	0.06668	0.706548	0.73137	0	0.724815	0.89359	0	0.608884	0.39905	0	0.714379	0.83352	0	.	.	5.82	3.33	0.37245	2.102000	0.41421	1.587000	0.27508	0.661000	0.55757	0.990000	0.36992	0.996000	0.32793	0.832000	0.39227	0.0:0.0:0.4029:0.5971	12.597	0.55833	884	0.28482	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.02381	1203.98	33	chr7	5986829	.	T	C	1203.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.250e+00;DP=812;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=58.54;MQRankSum=-4.000e-02;QD=13.23;ReadPosRankSum=-1.235e+00;SOR=0.787	GT:AD:DP:GQ:PL	0/1:44,47:91:99:1218,0,1143	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	0/3:5,0,0,8,0,0,0:13:99:321,336,546,336,546,546,0,210,210,186,336,546,546,210,546,336,546,546,210,546,546,336,546,546,210,546,546,546	1	3	5	0
chr7	8751561	8751561	A	G	exonic	NXPH1	.	nonsynonymous SNV	NXPH1:NM_152745:exon3:c.A608G:p.K203R,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.001	B	0.006	B	0.000	D	0.998	D	-1.285	N	.	.	-0.999	T	0.036	T	0.115	-0.822	0.618	4.92	2.324	5.368	11.658	0.369	0.00277419940689	.	.	8.521e-06	0	0	0	0	1.537e-05	0	0	6.5e-06	1	154602	rs759311254	1.369e-06	1.368e-06	0	2.752e-06	1.799e-06	2.3e-07	9e-08	3e-07	1.1e-07	0	0	0	0	0	0	1.799e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	1.0	0.01155	T	0.001	0.07471	B	0.006	0.12133	B	0.000000	0.84330	D	0.085942	0.998439	0.44913	D	-1.415	0.00585	N	.	.	.	2.12	0.00355	N	0.109	0.09490	-0.9987	0.30283	T	0.036	0.15640	T	9	0.10467416	0.19309	T	0.002774	0.05752	T	0.369	0.68844	0.517	0.61763	0.043077524339	0.03247	0.30074443733522443	0.29987	0.207978757635	0.23268	0.793109297752	0.80915	T	0.132526	0.46267	T	-0.214506	0.18750	T	-0.5459	0.17721	T	0.131678730249405	0.15537	T	0.846115	0.52582	T	0.09471223	0.22275	0.14798418	0.34999	0.09471223	0.22275	0.14798418	0.34998	-0.932	0.00927	T	.	.	0.09	0.12607	B	.;.	.;.	3.796426	0.54681	23.5	0.82089723889567645	0.14013	0.86968	0.46371	D	AEFDBCI	0.404707	0.47788	N	-0.427629497180095	0.24505	1.323598	-0.105009761693874	0.35189	2.03282	0.999876086296934	0.44625	0.487112	0.14033	0	0.573888	0.26702	0	0.657636	0.52715	0	0.564101	0.26826	0	.	.	6.06	4.92	0.64147	5.366000	0.65873	9.400000	0.80637	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.9315:0.0:0.0684:0.0	11.658	0.50589	968	0.07033	.;.	.	.	.	.	.	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	1938.98	36	chr7	8751561	.	A	G	1938.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.077e+00;DP=905;ExcessHet=0.0000;FS=16.247;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.04;ReadPosRankSum=-1.519e+00;SOR=0.372	GT:AD:DP:GQ:PL	0/1:92,69:161:99:1953,0,2708	20	0	1	0
chr7	11051767	11051767	C	T	exonic	PHF14	.	nonsynonymous SNV	PHF14:NM_001007157:exon14:c.C2468T:p.P823L	.	.	438	1078	6	0	0	6	0.00277521	.	.	2356885	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.01	D	0.938	P	0.262	B	0.000	D	1.000	D	0.345	N	3.8	T	-0.891	T	0.012	T	0.484	3.081	16.29	5.3	2.632	5.906	19.321	0.205	0.0246150328413	0.0003	.	0.0003	0.0001	8.729e-05	0	0	0.0003	0	0.0007	0.0002199	34	154602	rs201677864	0.0002	0.0002	0.0002	0.0003	0.0019	0.0002	0.0002	0.0011	0.0008	5.979e-05	8.96e-05	0	2.521e-05	0	0.0019	0.0002	0.0002	0.0009	0.0002	0.0002	0.0002	0.0002	0.0003	0.0001	0.0001	0.0002	0.0001	7.237e-05	0	6.561e-05	0	0	0	0.0034	0.0003	0.0014	0.0002	0.003	0.68238	D	.	.	.	0.688	0.49385	P	0.043	0.34953	B	0.000000	0.84330	D	0.052105	1	0.81001	D	0.695	0.17993	N	3.8	0.03781	T	-4.08	0.74742	D	0.651	0.66187	-0.8908	0.48864	T	0.012	0.04463	T	10	0.14189455	0.26957	T	0.024615	0.47607	T	0.205	0.49236	.	.	0.432493127443	0.42867	0.3289878925891261	0.32811	0.968746961187	0.73286	0.720826506615	0.70167	T	0.065532	0.57678	T	-0.358306	0.04227	T	-0.380194	0.35699	T	0.37348461151123	0.27931	T	0.940673	0.77758	D	0.4042496	0.61025	0.36909673	0.62186	0.4042496	0.61025	0.36909673	0.62186	-4.011	0.23968	T	.	.	0.090	0.18080	B	.;.;.	.;.;.	3.820511	0.55160	23.6	0.99689182852322311	0.79842	0.99132	0.91696	D	AEFBI	0.775799	0.70910	D	0.292909165028621	0.55789	3.742965	0.418824621037677	0.62737	4.494395	0.996112633175681	0.34533	0.706298	0.61202	0	0.709663	0.81188	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.3	5.3	0.74745	5.968000	0.70121	7.645000	0.63394	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.0:1.0:0.0:0.0	19.321	0.94227	654	0.62520	.;.;.	.	.	.	.	.	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	643.98	43	chr7	11051767	.	C	T	643.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.968;DP=762;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.73;ReadPosRankSum=-1.597e+00;SOR=0.749	GT:AD:DP:GQ:PL	0/1:34,26:60:99:658,0,846	20	0	1	0
chr7	18656932	18656932	G	A	exonic	HDAC9	.	nonsynonymous SNV	HDAC9:NM_001321878:exon12:c.G1484A:p.R495H,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001537	4	26028	rs536422370	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0004	0.0004	0.0002	0.0006	0.0037	0.0003	0.0003	0.0030	0.0027	0	0	0.0037	0	0	9.448e-05	0	1.471e-05	0	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	0.02381	791.98	35	chr7	18656932	.	G	A	791.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.31;DP=768;ExcessHet=0.0000;FS=0.942;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.18;ReadPosRankSum=0.623;SOR=0.538	GT:AD:DP:GQ:PL	0/1:33,32:65:99:806,0,741	20	0	1	0
chr7	19145146	19145146	C	T	exonic	FERD3L	.	nonsynonymous SNV	FERD3L:NM_152898:exon1:c.G217A:p.D73N,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.47	T	0.319	B	0.077	B	0.177	N	1.000	N	0.345	N	-4.08	D	-0.117	T	0.706	D	0.067	0.830	8.345	5.29	2.481	1.992	14.424	0.215	0.0694249091326	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.054e-06	2.052e-06	1.362e-06	2.754e-06	2.238e-05	5.5e-07	1.5e-07	.	.	0	2.238e-05	0	0	0	0	9.002e-07	1.658e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07	0.35349	T	0.185	0.28958	T	0.319	0.32965	B	0.077	0.28532	B	0.177264	0.17202	N	0.521231	1	0.08975	N	1.04	0.26193	L	-4.08	0.96594	D	0.16	0.05217	N	0.212	0.23632	-0.1168	0.79709	T	0.706	0.89882	D	10	0.18130705	0.33357	T	0.069425	0.70725	D	0.215	0.50805	0.307	0.27806	0.945474479156	0.94490	0.12214933733919874	0.12141	0.271143584804	0.29636	0.416368246078	0.27337	T	0.028926	0.20840	T	-0.00250659	0.51309	T	-0.241377	0.50665	T	0.46619838476181	0.31392	T	0.49475	0.15329	T	0.0522932	0.09732	0.077369615	0.17230	0.0522932	0.09731	0.077369615	0.17229	-6.544	0.50625	T	.	.	0.085	0.10062	B	.	.	1.959941	0.24899	16.57	0.99164812334189278	0.54212	0.84280	0.43362	D	AEFDBHCI	0.364385	0.45294	N	-0.399195384669048	0.25497	1.384552	-0.309001885282273	0.27807	1.545643	0.99245460640929	0.32845	0.437478	0.07067	0	0.563428	0.19063	0	0.606814	0.37721	0	0.530356	0.10902	0	.	.	5.29	5.29	0.74430	2.350000	0.43718	2.630000	0.33687	0.599000	0.40250	0.922000	0.32020	0.475000	0.25072	0.110000	0.18741	0.0:1.0:0.0:0.0	14.424	0.66777	916	0.20744	.	.	.	.	.	.	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	1527.98	33	chr7	19145146	.	C	T	1527.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-9.270e-01;DP=824;ExcessHet=0.0000;FS=0.841;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.79;ReadPosRankSum=0.954;SOR=0.865	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:30,61:91:99:1|0:19145123_C_CTCT:1542,0,1073:19145123	20	0	1	0
chr7	24717307	24717307	G	A	exonic	GSDME	.	nonsynonymous SNV	GSDME:NM_001127454:exon4:c.C152T:p.T51I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	0.999	D	0.973	D	0.000	D	1.000	D	2.505	M	1.79	T	-0.781	T	0.190	T	0.849	4.662	25.7	5.7	2.676	6.003	18.585	0.189	0.0225671657234	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1479230371	3.422e-06	3.42e-06	4.085e-06	2.751e-06	4.475e-05	1e-06	7.3e-07	7.42e-06	2.78e-06	0	4.475e-05	0	0	0	0	1.799e-06	0	1.161e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	0.999	0.77913	D	0.973	0.72923	D	0.000002	0.62929	D	0.100834	1	0.81001	D	.	.	.	1.79	0.25509	T	-4.35	0.81350	D	0.9	0.92550	-0.7808	0.56257	T	0.190	0.54123	T	10	0.8200856	0.81219	D	0.022567	0.45471	T	0.359	0.67962	0.703	0.83962	0.790563973083	0.78861	0.8890517879856703	0.88874	0.271740391877	0.29688	0.557534098625	0.46919	T	0.405963	0.76200	T	0.146453	0.68935	D	0.055459	0.73944	D	0.985672116279602	0.76598	D	0.836416	0.64401	T	0.6843428	0.77203	0.6609368	0.80133	0.6843428	0.77205	0.6609368	0.80134	-9.636	0.71703	D	0.9522166120838702	0.98303	0.638	0.76129	P	.;.;.;.;.;.	.;.;.;.;.;.	4.685007	0.75006	26.3	0.99909872638415098	0.97949	0.87131	0.46579	D	AEFDBCI	0.722529	0.67243	D	0.844103953155846	0.88768	9.704864	0.819697021047637	0.91128	10.73237	0.999999999878119	0.74766	0.706298	0.61202	0	0.672317	0.65289	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.7	5.7	0.88690	6.580000	0.73930	11.805000	0.96765	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.967000	0.53440	0.0:0.0:1.0:0.0	18.585	0.91140	621	0.65931	.;.;.;.;.;.	.	.	.	.	.	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	1851.98	35	chr7	24717307	.	G	A	1851.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.42;DP=900;ExcessHet=0.0000;FS=4.497;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.16;ReadPosRankSum=1.15;SOR=0.890	GT:AD:DP:GQ:PL	0/1:87,79:166:99:1866,0,2005	20	0	1	0
chr7	26152717	26152717	C	G	exonic	NFE2L3	.	nonsynonymous SNV	NFE2L3:NM_004289:exon1:c.C219G:p.H73Q,	.	.	427	1071	24	0	0	24	0.0110803	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.27	T	0.0	B	0.0	B	0.259	N	1.000	N	-0.205	N	2.17	T	-0.994	T	0.026	T	0.079	-1.631	0.013	-3.4	-0.876	-0.300	10.514	0.028	.	.	0.000998403	0.0064	0	0	0	0	0.0242	0	0.0017	0.0007568	117	154602	rs576398496	0.0018	0.0018	0.0017	0.0018	0.0173	0.0017	0.0017	0.0140	0.0128	0.0004	0.0027	0.0349	0	3.072e-05	0.0173	0.0009	0.0054	0.0018	0.0019	0.0019	0.0020	0.0018	0.0024	0.0017	0.0017	0.0017	0.0015	0.0002	0	0.0024	0.0331	0	0	0.0137	0.0015	0.0071	0.0021	0.735	0.03753	T	0.673	0.06245	T	0.0	0.02946	B	0.0	0.01387	B	0.259267	0.03698	N	1.504130	1	0.08975	N	-0.69	0.01958	N	2.17	0.19020	T	0.22	0.04694	N	0.083	0.05929	-0.9941	0.31538	T	0.026	0.10954	T	10	0.003213942	0.00055	T	.	.	.	0.028	0.06331	0.147	0.05039	0.16115917748	0.15686	0.12624696372789396	0.12550	0.889988259667	0.70188	0.630593597889	0.57230	T	0.020447	0.16099	T	-0.678624	0.00049	T	-0.752499	0.03390	T	0.00425036761370737	0.00045	T	0.114889	0.00874	T	0.0308307	0.02815	0.030504718	0.01515	0.0308307	0.02815	0.030504718	0.01514	-3.212	0.12628	T	.	.	0.070	0.03372	B	.	.	0.181764	0.05692	2.139	0.50496829366368179	0.04394	0.00222	0.01252	N	AEFDBHCI	0.010430	0.00074	N	-1.72205867734724	0.00766	0.03310011	-1.74082218110768	0.00968	0.04337366	0.999999876021267	0.74766	0.733237	0.96898	0	0.484254	0.07192	0	0.600757	0.32118	0	0.627883	0.49187	0	.	.	4.13	-3.4	0.04549	-0.458000	0.06813	0.051000	0.14001	-1.193000	0.01371	0.000000	0.06391	0.000000	0.08366	0.020000	0.11549	0.0:0.5025:0.2669:0.2307	10.514	0.44066	834	0.38640	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	209.98	31	chr7	26152717	.	C	G	209.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.48;DP=659;ExcessHet=0.0000;FS=1.481;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=5.38;ReadPosRankSum=-2.000e-01;SOR=1.048	GT:AD:DP:GQ:PL	0/1:30,9:39:99:224,0,801	20	0	1	0
chr7	26185116	26185116	G	C	exonic	NFE2L3	.	nonsynonymous SNV	NFE2L3:NM_004289:exon4:c.G1418C:p.S473T,	.	.	419	1084	19	0	0	19	0.0086877	.	.	2828353	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.09	T	0.001	B	0.002	B	0.683	N	1.000	N	1.61	L	1.36	T	-0.989	T	0.069	T	0.113	-0.019	3.919	1.49	0.074	-0.477	2.335	0.027	0.0056447648091	0.0028	0.000998403	0.0022	0.0003	0.0018	0	0	0.0034	0.0022	0.0011	0.0003687	57	154602	rs148970492	0.0017	0.0017	0.0017	0.0018	0.0217	0.0017	0.0017	0.0186	0.0174	0.0004	0.0025	0.0351	0	1.873e-05	0.0217	0.0008	0.0052	0.0014	0.0018	0.0018	0.0019	0.0017	0.0025	0.0016	0.0016	0.0016	0.0014	0.0002	0	0.0022	0.0331	0	0	0.0102	0.0013	0.0057	0.0025	0.091	0.31834	T	0.39	0.15506	T	0.001	0.07471	B	0.002	0.06944	B	0.683167	0.10241	N	0.878634	1	0.08975	N	2.455	0.71248	M	1.36	0.34452	T	-1.68	0.40082	N	0.085	0.06190	-0.9893	0.32778	T	0.069	0.28379	T	10	0.0036691427	0.00067	T	0.005645	0.14591	T	0.027	0.05988	.	.	0.343788945184	0.33981	0.1470148266944232	0.14623	0.00116936903274	0.00099	0.240790098906	0.02861	T	0.079789	0.36211	T	-0.589835	0.00168	T	-0.62496	0.10799	T	0.00694223880851506	0.00079	T	0.325667	0.06705	T	0.07156396	0.15854	0.05256115	0.08682	0.07156396	0.15854	0.05256115	0.08681	-4.556	0.31614	T	.	.	0.085	0.10062	B	.	.	-0.642518	0.01459	0.089	0.91445454571320628	0.20715	0.00190	0.01102	N	AEFDGBHCI	0.138395	0.25968	N	-0.822262829471552	0.12742	0.6230694	-0.87154998205728	0.12770	0.6588193	0.999999978988595	0.74766	0.67177	0.52595	0	0.697927	0.68747	0	0.697927	0.64325	0	0.711	0.71501	0	.	.	4.46	1.49	0.21966	-0.474000	0.06686	-0.990000	0.06682	-1.937000	0.00494	0.000000	0.06391	0.000000	0.08366	0.116000	0.19000	0.2138:0.3675:0.2934:0.1253	2.335	0.03986	752	0.51611	.	.	.	.	.	.	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	2079.98	38	chr7	26185116	.	G	C	2079.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.903;DP=840;ExcessHet=0.0000;FS=1.389;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.74;MQRankSum=-9.300e-01;QD=14.86;ReadPosRankSum=-2.868e+00;SOR=0.887	GT:AD:DP:GQ:PL	0/1:66,74:140:99:2094,0,1799	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	1/1:0,144,0:144:99:.:.:5045,432,0,5045,432,5045	0	18	1	0
chr7	27199633	27199633	C	A	exonic	HOXA13	.	nonsynonymous SNV	HOXA13:NM_000522:exon1:c.G445T:p.A149S,	Guttmacher syndrome, Autosomal dominant;Hand-foot-uterus syndrome, Autosomal dominant	.	12	1509	1	0	0	1	0.000331236	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.75	T	0.058	B	0.07	B	0.000	N	0.993	N	-0.295	N	0.88	T	-1.000	T	0.039	T	0.121	1.017	9.154	1.01	0.513	2.463	6.824	0.047	0.0742161350666	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	3.42e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.677	0.04469	T	0.593	0.08134	T	0.058	0.22967	B	0.07	0.27859	B	0.000062	0.52346	N	0.127630	0.992947	0.23798	N	0.175	0.09039	N	0.88	0.46028	T	-0.16	0.09460	N	0.21	0.23380	-1.0001	0.29888	T	0.039	0.16806	T	10	0.08209431	0.13510	T	0.074216	0.71985	D	0.047	0.12962	0.272	0.22210	0.31501682445	0.31101	0.29358053864189454	0.29271	.	.	0.925539374352	0.98716	D	0.044129	0.26721	T	-0.245592	0.14645	T	-0.590552	0.13618	T	0.201016992330551	0.20472	T	0.585041	0.21304	T	0.10791442	0.25517	0.12775499	0.30749	0.10791442	0.25516	0.12775499	0.30748	-4.852	0.35191	T	0.11821594795425325	0.10884	0.099	0.16494	B	.;.	.;.	3.118420	0.42087	21.5	0.92833861410432228	0.22367	0.74833	0.36618	D	AEFDBHCIJ	0.343496	0.43929	N	-0.702645299152941	0.15946	0.8082261	-0.568001966864453	0.20329	1.09482	0.999994149816344	0.74766	0.437478	0.07067	0	0.59043	0.45803	0	0.606814	0.37721	0	0.554799	0.18163	0	.	.	3.31	1.01	0.19044	0.884000	0.27851	2.862000	0.35209	0.451000	0.21329	0.974000	0.34632	1.000000	0.68203	0.990000	0.65344	0.0:0.5508:0.323:0.1262	6.824	0.23056	311	0.87433	Homeobox protein Hox1A3 N-terminal;Homeobox protein Hox1A3 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	644.98	50	chr7	27199633	.	C	A	644.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.172e+00;DP=852;ExcessHet=0.0000;FS=4.404;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.44;ReadPosRankSum=0.211;SOR=0.268	GT:AD:DP:GQ:PL	0/1:19,29:48:99:659,0,501	20	0	1	0
chr7	37342647	37342647	G	A	exonic	ELMO1	.	nonsynonymous SNV	ELMO1:NM_001206480:exon2:c.C44T:p.P15L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	D	0.899	P	0.282	B	0.000	D	1.000	D	2.175	M	2.45	T	-0.750	T	0.147	T	0.756	3.793	19.26	4.71	2.336	8.456	15.809	0.221	0.0340549185081	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1384206207	4.792e-06	6.84e-06	6.812e-06	2.752e-06	1.799e-06	1.99e-06	1.28e-06	3e-07	1.1e-07	0	0	0	0	9.362e-05	0	1.799e-06	0	0	1.972e-05	1.97e-05	2.569e-05	1.346e-05	.	5.24e-06	2.45e-06	.	.	0	0	0	0	0	0.0003	0	0	0	0	0.043	0.55530	D	0.079	0.92824	T	0.899	0.49514	P	0.282	0.40384	B	0.000000	0.84330	D	0.000000	1	0.81001	D	2.455	0.71248	M	2.45	0.49919	T	-1.84	0.65972	N	0.789	0.78737	-0.7504	0.57914	T	0.147	0.47147	T	10	0.52119154	0.62652	D	0.034055	0.55415	D	0.221	0.51721	0.517	0.61763	0.45353014845	0.44977	0.8418022119751649	0.84140	1.85689283172	0.92355	0.879708349705	0.93921	D	0.224497	0.58895	T	0.119422	0.66314	D	-0.0662353	0.65894	T	0.687747406284729	0.40144	D	0.957804	0.85587	D	0.23291679	0.46088	0.122334614	0.29510	0.23291679	0.46088	0.122334614	0.29509	-10.928	0.79262	D	.	.	0.638	0.71982	P	.;.;.;.;.;.;.	.;.;.;.;.;.;.	5.270253	0.88488	29.6	0.99744932134236253	0.83778	0.97263	0.73660	D	AEFGBHCIJ	0.839819	0.75719	D	0.550143964892645	0.70091	5.45083	0.578820135665095	0.73423	5.96812	1.0	0.98316	0.706298	0.61202	0	0.52208	0.09955	0	0.709663	0.75317	0	0.655142	0.61905	0	.	.	4.71	4.71	0.59010	8.349000	0.89970	11.570000	0.93280	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:1.0:0.0	15.809	0.78318	900	0.24599	.;.;.;.;.;.;.	.	.	.	.	.	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	1408.98	38	chr7	37342647	.	G	A	1408.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.55;DP=796;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.36;ReadPosRankSum=0.346;SOR=0.640	GT:AD:DP:GQ:PL	0/1:59,55:114:99:1423,0,1332	20	0	1	0
chr7	43624718	43624718	C	G	exonic	STK17A	.	nonsynonymous SNV	STK17A:NM_004760:exon7:c.C1121G:p.T374S,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.78	T	0.013	B	0.006	B	0.033	N	1.000	D	0.205	N	-0.19	T	-1.042	T	0.109	T	0.182	2.035	12.76	3.72	0.900	6.175	12.521	0.074	0.0106320113374	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.368e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.332	0.13045	T	0.317	0.19304	T	0.013	0.16609	B	0.006	0.12133	B	0.032718	0.24992	N	0.277746	0.998147	0.22327	N	2.075	0.57047	M	-0.19	0.65931	T	0.48	0.03041	N	0.064	0.03613	-1.0419	0.16741	T	0.109	0.39392	T	10	0.115400106	0.21741	T	0.010632	0.27388	T	0.074	0.21613	0.163	0.06730	0.613747831775	0.61063	0.2658683285844839	0.26499	0.239766953823	0.26521	0.495270937681	0.38170	T	0.009004	0.08229	T	-0.0823907	0.39325	T	-0.356125	0.38501	T	0.750056266784668	0.43288	D	.	.	.	0.12240565	0.28764	0.066225044	0.13534	0.12240565	0.28764	0.066225044	0.13534	-5.001	0.36851	T	.	.	0.181	0.39305	B	.	.	3.389122	0.46917	22.4	0.9659045393350808	0.30369	0.93177	0.57526	D	AEFGBCI	0.709470	0.66354	D	-0.372321133435478	0.26460	1.444228	-0.16957771568949	0.32663	1.86049	0.99999999377476	0.74766	0.732398	0.92422	0	0.698795	0.70079	0	0.743671	0.96076	0	0.723	0.93126	0	.	.	4.61	3.72	0.41857	6.248000	0.72374	4.362000	0.43121	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.9177:0.0:0.0823	12.521	0.55405	774	0.48577	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.1842	462.95	111	chr7	43624718	.	C	G	462.95	.	AC=7;AF=0.184;AN=38;BaseQRankSum=-3.585e+00;DP=2195;ExcessHet=2.5830;FS=236.492;InbreedingCoeff=-0.2524;MLEAC=7;MLEAF=0.184;MQ=60.00;MQRankSum=0.00;QD=0.67;ReadPosRankSum=0.806;SOR=12.602	GT:AD:DP:GQ:PL	0/1:60,26:86:92:92,0,1171	12	0	7	2
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	0/1:67,79,0:146:99:.:.:1936,0,1724,2137,1950,4087	8	5	7	0
chr7	44490495	44490495	G	A	exonic	NUDCD3	.	nonsynonymous SNV	NUDCD3:NM_015332:exon1:c.C106T:p.R36C,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.998	D	0.000	D	1.000	D	3.1	M	-0.79	T	0.435	D	0.633	D	0.925	4.525	24.4	4.54	2.487	6.506	14.489	0.863	0.421652900011	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1473039389	6.859e-07	2.736e-06	0	1.379e-06	9.006e-07	0	0	.	.	0	0	0	0	0	0	9.006e-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	3.45	0.92227	M	-0.79	0.73739	T	-6.66	0.92302	D	0.895	0.89465	0.435	0.89622	D	0.633	0.87139	D	10	0.9012434	0.89485	D	0.421653	0.93805	D	0.863	0.95839	0.712	0.84781	0.825169386555	0.82351	0.8422910699275779	0.84189	1.03642533808	0.75623	0.914142012596	0.97846	D	0.415096	0.76846	T	0.402303	0.90049	D	0.340104	0.89924	D	0.998225390911102	0.93561	D	0.965803	0.87368	D	0.788375	0.83171	0.84052986	0.90873	0.788375	0.83173	0.84052986	0.90874	-11.85	0.84113	D	.	.	0.962	0.88272	P	.	.	5.378555	0.90144	31	0.99928119882100042	0.99222	0.43230	0.27052	N	ALL	0.795593	0.72297	D	0.802367583806827	0.86253	8.826563	0.703488067145754	0.82644	7.818234	1.0	0.98316	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	4.54	4.54	0.55220	5.540000	0.66915	11.505000	0.92979	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:1.0:0.0	14.489	0.67218	783	0.47268	NudC N-terminal 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	1026.98	33	chr7	44490495	.	G	A	1026.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.335;DP=778;ExcessHet=0.0000;FS=0.845;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.00;ReadPosRankSum=0.339;SOR=0.836	GT:AD:DP:GQ:PL	0/1:38,41:79:99:1041,0,913	20	0	1	0
chr7	45083137	45083137	C	A	exonic	NACAD	.	nonsynonymous SNV	NACAD:NM_001146334:exon2:c.G3043T:p.A1015S,	.	.	.	.	.	.	.	.	.	.	.	3447859	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.1	T	0.013	B	0.004	B	0.014	N	1.000	N	0.895	L	2.76	T	-0.983	T	0.022	T	0.032	-0.581	1.389	-1.22	-0.115	-1.005	4.544	0.009	0.00960367811978	.	0.000399361	0.0008	0	0	0	0	0	0	0.0019	0.00011	17	154602	rs576670818	0.0002	0.0002	8.607e-05	0.0003	0.0028	0.0002	0.0001	0.0025	0.0024	0	0	0	0	0	0.0005	1.854e-06	0.0001	0.0028	6.563e-05	6.561e-05	2.569e-05	0.0001	0.0019	3.513e-05	2.613e-05	0.0010	0.0007	2.405e-05	0	0	0	0	0	0	0	0	0.0019	0.273	0.15876	T	0.492	0.11479	T	0.013	0.16609	B	0.004	0.10090	B	0.014284	0.01386	N	11.292800	1	0.08975	N	0.695	0.17993	N	2.76	0.11515	T	-0.72	0.20358	N	0.035	0.01004	-0.9826	0.34398	T	0.022	0.09238	T	10	0.0039404035	0.00076	T	0.009604	0.25107	T	0.009	0.00846	0.089	0.00982	0.0920862733494	0.08535	0.06147214892283106	0.06087	0.00331702686819	0.00282	0.269650399685	0.06096	T	0.001133	0.00643	T	-0.731391	0.00023	T	-0.828917	0.01281	T	0.0247410375137172	0.01239	T	0.265773	0.04346	T	0.030193029	0.02641	0.03275993	0.02061	0.030193029	0.02641	0.03275993	0.02061	-2.871	0.08857	T	.	.	0.084	0.09917	B	.	.	-1.493683	0.00299	0.005	0.63471475747142148	0.07233	0.00188	0.01093	N	AEFDBI	0.018601	0.00576	N	-1.28876506168831	0.03810	0.1708486	-1.36190694484357	0.03667	0.17155	0.959833206551735	0.28451	0.718356	0.82227	0	0.59043	0.45803	0	0.570548	0.19454	0	0.604944	0.38103	0	.	.	3.38	-1.22	0.09005	-0.600000	0.05789	-1.339000	0.05677	-1.828000	0.00593	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2635:0.2204:0.5162:0.0	4.544	0.11473	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	1	0	0	0	0.02381	1683.98	36	chr7	45083137	.	C	A	1683.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.56;DP=1255;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.66;ReadPosRankSum=-1.670e-01;SOR=0.690	GT:AD:DP:GQ:PL	0/1:72,61:133:99:1698,0,1752	20	0	1	0
chr7	47303192	47303192	G	A	exonic	TNS3	.	nonsynonymous SNV	TNS3:NM_022748:exon22:c.C3215T:p.T1072M,	.	.	415	1074	32	1	0	34	0.015582	.	.	722545	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.07	T	0.987	D	0.451	P	0.461	N	1.000	N	0.975	L	-3.07	D	0.180	D	0.746	D	0.309	2.966	15.89	5.66	2.662	3.561	15.243	0.270	.	0.0015	0.0061901	0.0055	0.0007	0.0016	0	0	0.0021	0.0048	0.0285	0.0047024	727	154602	rs181932240	0.0035	0.0035	0.0027	0.0043	0.0282	0.0034	0.0034	0.0272	0.0268	0.0004	0.0016	0.0018	0.0003	0.0001	0.0097	0.0020	0.0041	0.0282	0.0022	0.0022	0.0017	0.0027	0.0246	0.0020	0.0019	0.0211	0.0197	0.0004	0	0.0024	0.0017	0	9.407e-05	0.0034	0.0022	0.0019	0.0246	0.022	0.72154	D	0.01	0.65728	D	0.987	0.61912	D	0.451	0.46123	P	0.460844	0.12393	N	0.778290	1	0.08975	N	2.36	0.67893	M	-3.07	0.94210	D	-1.86	0.43524	N	0.209	0.23253	0.180	0.85565	D	0.746	0.91330	D	10	0.0038704276	0.00073	T	.	.	.	0.270	0.58507	.	.	0.67388624401	0.67112	0.29929116629727703	0.29842	.	.	0.456122934818	0.32780	T	0.114318	0.43205	T	-0.224378	0.17399	T	-0.0741295	0.65330	T	0.0345875563291198	0.02737	T	0.882012	0.60217	D	0.06315853	0.13269	0.1093954	0.26364	0.06315853	0.13268	0.1093954	0.26363	-4.834	0.34985	T	.	.	0.096	0.18539	B	.;.	.;.	3.491417	0.48808	22.7	0.99842830631907231	0.92316	0.59604	0.30961	D	AEFDBCI	0.175430	0.30260	N	0.293632324730734	0.55825	3.746639	0.329271446880366	0.57265	3.891775	0.999982189775115	0.51787	0.626454	0.40138	0	0.588066	0.40923	0	0.80507	0.99327	0	0.655142	0.61905	0	.	.	5.66	5.66	0.87293	4.417000	0.59573	4.222000	0.42599	0.676000	0.76740	0.979000	0.35152	0.992000	0.31684	0.962000	0.52141	0.0:0.0:1.0:0.0	15.243	0.73182	906	0.23090	.;.	.	.	.	.	.	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	2709.11	34	chr7	47303192	.	G	A	2709.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.12;DP=901;ExcessHet=0.1072;FS=8.785;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=12.54;ReadPosRankSum=-8.000e-03;SOR=0.357	GT:AD:DP:GQ:PL	0/1:52,41:93:99:1104,0,1427	19	0	2	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	0/2:52,16,23:91:10:.:.:147,10,1933,0,603,685	0	0	17	1
chr7	47853147	47853147	A	G	exonic	PKD1L1	.	nonsynonymous SNV	PKD1L1:NM_138295:exon31:c.T4940C:p.I1647T,	Heterotaxy, visceral, 8, autosomal, Autosomal recessive	YES	420	1065	36	1	0	38	0.0175277	.	.	700108	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.1	T	0.172	B	0.025	B	0.924	N	1.000	N	0.695	N	1.9	T	-1.006	T	0.042	T	0.113	0.671	7.591	2.69	0.267	0.765	6.861	0.033	0.00307578698085	0.0024	0.00119808	0.0028	0.0006	0.0048	0.0001	0.0003	0.0031	0.0044	0.0038	0.0026132	404	154602	rs150396842	0.0025	0.0025	0.0025	0.0026	0.0269	0.0025	0.0024	0.0234	0.0221	0.0006	0.0032	0.0006	0	0.0002	0.0269	0.0025	0.0039	0.0039	0.0019	0.0019	0.0020	0.0017	0.0029	0.0017	0.0016	0.0026	0.0025	0.0005	0	0.0022	0.0009	0	9.413e-05	0.0374	0.0029	0.0028	0.0023	0.132	0.26519	T	0.13	0.34716	T	0.172	0.28767	B	0.025	0.20508	B	0.923955	0.07493	N	1.050930	1	0.08975	N	0.895	0.22405	L	1.9	0.23486	T	-2.15	0.48687	N	0.153	0.15749	-1.0059	0.28186	T	0.042	0.17910	T	10	0.0092950165	0.00210	T	0.003076	0.06636	T	0.033	0.08068	.	.	0.0954503805726	0.09146	0.2955123806695108	0.29464	0.12647757418	0.14255	0.317104578018	0.12981	T	0.060975	0.31530	T	-0.603463	0.00139	T	-0.637275	0.09869	T	0.00694634325530632	0.00079	T	0.363264	0.08416	T	0.08808688	0.20535	0.11958772	0.28864	0.08808688	0.20535	0.11958772	0.28863	-10.882	0.79007	D	0.19642316934644846	0.25944	0.365	0.57542	A	.	.	1.026868	0.14066	10.64	0.75558764966743985	0.11122	0.03166	0.08140	N	AEFI	0.043929	0.07004	N	-0.821283035922916	0.12767	0.6244539	-0.837001255752562	0.13600	0.7064044	0.244068471712208	0.18605	0.533608	0.22052	0	0.615948	0.52940	0	0.615948	0.41167	0	0.638833	0.57524	0	.	.	5.14	2.69	0.30923	0.979000	0.29098	1.846000	0.29223	0.756000	0.94297	0.001000	0.13787	0.001000	0.17328	0.613000	0.31716	0.8093:0.0:0.1907:0.0	6.861	0.23249	923	0.18507	.	.	.	.	.	.	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	811.98	34	chr7	47853147	.	A	G	811.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.46;DP=761;ExcessHet=0.0000;FS=2.001;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.77;ReadPosRankSum=-9.810e-01;SOR=0.919	GT:AD:DP:GQ:PL	0/1:37,32:69:99:826,0,884	20	0	1	0
chr7	48103309	48103309	A	G	exonic	UPP1	.	nonsynonymous SNV	UPP1:NM_003364:exon6:c.A334G:p.I112V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.63	T	0.086	B	0.052	B	0.006	N	1.000	D	0.845	L	-2.14	D	-0.815	T	0.370	T	0.147	0.709	7.777	-4.68	-0.843	1.044	14.599	0.137	0.0162703173878	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.068e-05	0.0005	4.533e-05	3.607e-05	6.545e-05	3.187e-05	2.855e-05	3.432e-05	3.064e-05	6.545e-05	0	0	0	0	0	4.503e-05	0.0001	1.194e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.561	0.06669	T	0.844	0.03652	T	0.005	0.12996	B	0.013	0.16460	B	0.006375	0.32080	N	0.369553	0.659061	0.48481	D	0.65	0.16133	N	-2.14	0.86415	D	-0.25	0.11008	N	0.335	0.37613	-0.8153	0.54226	T	0.370	0.72932	T	10	0.17066589	0.31743	T	0.01627	0.37444	T	0.137	0.36984	0.393	0.41770	0.494366844524	0.49069	0.6359250264121555	0.63526	0.119767800777	0.13491	0.439313769341	0.30483	T	0.150536	0.55493	T	-0.0746563	0.40579	T	-0.345015	0.39777	T	0.0481831632055793	0.05176	T	0.90391	0.67021	D	0.036912184	0.04632	0.047135282	0.06722	0.036912184	0.04631	0.047135282	0.06722	-7.212	0.55568	T	.	.	0.115	0.22933	B	.;.;.;.	.;.;.;.	1.228969	0.16235	12.41	0.69032023839716439	0.08843	0.30303	0.24048	N	AEFDGBCI	0.037360	0.05126	N	-1.18467389851375	0.05232	0.2380039	-1.17438792066289	0.06340	0.3048925	0.99999892264264	0.74766	0.706548	0.73137	0	0.633656	0.55848	0	0.724815	0.87919	0	0.711	0.71501	0	.	.	5.43	-4.68	0.03070	1.426000	0.34478	0.250000	0.16416	-0.576000	0.04747	0.702000	0.28645	0.000000	0.08366	0.986000	0.61781	0.426:0.0:0.574:0.0	14.599	0.68020	804	0.43891	Nucleoside phosphorylase domain|Nucleoside phosphorylase, conserved site;Nucleoside phosphorylase domain|Nucleoside phosphorylase, conserved site;Nucleoside phosphorylase domain|Nucleoside phosphorylase, conserved site;Nucleoside phosphorylase domain|Nucleoside phosphorylase, conserved site	.	.	.	.	.	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	0.2368	964.53	38	chr7	48103309	.	A	G	964.53	.	AC=9;AF=0.237;AN=38;BaseQRankSum=-2.089e+00;DP=1700;ExcessHet=4.7172;FS=113.804;InbreedingCoeff=-0.3130;MLEAC=10;MLEAF=0.263;MQ=59.98;MQRankSum=0.00;QD=1.11;ReadPosRankSum=0.721;SOR=10.441	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:85,13:98:87:0|1:48103308_C_T:87,0,3051:48103308	10	0	9	2
chr7	76393414	76393414	G	A	exonic	SSC4D	.	nonsynonymous SNV	SSC4D:NM_080744:exon9:c.C1324T:p.L442F,	.	.	416	1065	39	2	0	43	0.0197883	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	T	0.824	P	0.529	P	0.018	N	0.999	N	1.275	L	1.28	T	-1.061	T	0.068	T	0.141	3.077	16.28	-0.744	-0.031	0.777	2.848	0.072	.	0.0015	0.00519169	0.0120	0.0027	0.0084	0.0034	0.0015	0.0059	0.0402	0.0648	0.0032535	503	154602	rs142875026	0.0032	0.0032	0.0026	0.0038	0.0203	0.0031	0.0031	0.0194	0.0190	0.0011	0.0013	0.0077	0.0005	0.0005	0.0104	0.0021	0.0042	0.0203	0.0027	0.0027	0.0023	0.0031	0.0211	0.0025	0.0024	0.0178	0.0166	0.0012	0	0.0012	0.0124	0.0008	0.0008	0.0034	0.0026	0.0033	0.0211	0.004	0.65419	D	0.004	0.74150	D	0.824	0.45836	P	0.529	0.48508	P	0.017798	0.27636	N	0.291939	0.999303	0.21385	N	0.74	0.18910	N	1.28	0.35960	T	-1.75	0.41428	N	0.144	0.14480	-1.0609	0.11532	T	0.068	0.28047	T	10	0.0063617527	0.00144	T	.	.	.	0.072	0.21020	.	.	0.16115917748	0.15686	0.19340891850199898	0.19258	1.17278898056	0.79810	0.802709519863	0.82377	T	0.067495	0.33216	T	-0.534462	0.00361	T	-0.524237	0.19865	T	0.0894524413666828	0.11152	T	0.730627	0.34608	T	0.24573545	0.47535	0.24026094	0.49395	0.24573545	0.47534	0.24026094	0.49394	-7.439	0.57180	T	.	.	0.132	0.28406	B	.	.	3.417281	0.47432	22.5	0.97988988016776746	0.37386	0.64767	0.32514	D	ALL	0.249620	0.36982	N	-0.619625405610369	0.18355	0.9522991	-0.772224593496796	0.15177	0.7969113	0.999999999945208	0.74766	0.441713	0.08003	0	0.166054	0.03914	2	0.52208	0.10781	0	0.249971	0.05119	0	.	.	5.28	-0.744	0.10542	1.015000	0.29565	2.184000	0.31153	0.560000	0.28382	0.637000	0.28059	0.999000	0.35428	0.835000	0.39381	0.1572:0.0973:0.211:0.5345	2.848	0.05209	866	0.32446	SRCR domain|SRCR domain|SRCR-like domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	532.98	33	chr7	76393414	.	G	A	532.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.187;DP=629;ExcessHet=0.0000;FS=8.232;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.66;ReadPosRankSum=-1.694e+00;SOR=1.640	GT:AD:DP:GQ:PL	0/1:12,20:32:99:547,0,292	20	0	1	0
chr7	76441955	76441955	G	A	exonic	ZP3	.	nonsynonymous SNV	ZP3:NM_001110354:exon8:c.G1174A:p.V392I	.	.	443	1039	36	4	0	44	0.0207352	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.37	T	0.0	B	0.0	B	0.157	N	1.000	N	-0.805	N	2.65	T	-1.042	T	0.017	T	0.168	0.255	5.377	-6.44	-1.337	-1.844	0.234	0.080	.	0.0005	0.00738818	0.0111	0.0028	0.0055	0.0031	0.0041	0.0077	0.0101	0.0351	0.0018057	47	26028	rs201251126	0.0043	0.0043	0.0036	0.0051	0.0222	0.0042	0.0042	0.0214	0.0210	0.0035	0.0022	0.0185	0.0008	0.0012	0.0113	0.0028	0.0066	0.0222	0.0039	0.0042	0.0035	0.0043	0.0198	0.0036	0.0035	0.0163	0.0151	0.0031	0	0.0033	0.0252	0.0011	0.0016	0.0069	0.0030	0.0038	0.0198	0.327	0.18184	T	0.276	0.23029	T	0.0	0.02946	B	0.0	0.01387	B	0.157266	0.03010	N	3.060610	1	0.08975	N	-0.55	0.02420	N	2.43	0.24472	T	0.23	0.04861	N	0.061	0.06587	-1.0423	0.16621	T	0.017	0.07187	T	10	0.0025596917	0.00039	T	.	.	.	0.080	0.23350	.	.	0.0138822411134	0.00435	0.1585855390422185	0.15779	1.17843841933	0.79943	0.27971714735	0.07453	T	0.036537	0.24141	T	-0.638056	0.00086	T	-0.67238	0.07457	T	0.00381348788400583	0.00040	T	0.387861	0.09571	T	0.018006098	0.00323	0.024166262	0.00432	0.016089765	0.00175	0.024166262	0.00432	-4.662	0.34027	T	0.1092145752290611	0.09092	0.076	0.06295	B	.;.;.	.;.;.	-0.863933	0.00987	0.040	0.58359987529475721	0.05976	0.00446	0.02168	N	AEFGI	0.011423	0.00101	N	-2.15860884939749	0.00095	0.004058833	-2.19078509612962	0.00117	0.005158386	0.924343781768029	0.26776	0.706298	0.61202	0	0.709663	0.81188	0	0.658983	0.55881	0	0.567892	0.33627	0	.	.	3.34	-6.44	0.01749	-2.525000	0.01024	-0.572000	0.08421	-0.978000	0.01909	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.295:0.1919:0.2782:0.2348	0.234	0.00170	886	0.28090	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	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	601.98	33	chr7	76441955	.	G	A	601.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.49;DP=720;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=32.81;MQRankSum=-6.860e-01;QD=12.54;ReadPosRankSum=-1.325e+00;SOR=0.540	GT:AD:DP:GQ:PL	0/1:26,22:48:99:616,0,782	20	0	1	0
chr7	93102964	93102964	C	G	exonic	SAMD9	.	nonsynonymous SNV	SAMD9:NM_001193307:exon2:c.G3134C:p.G1045A	MIRAGE syndrome, Autosomal dominant;Tumoral calcinosis, familial, normophosphatemic, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.36	T	0.278	B	0.057	B	0.039	N	0.999	N	0.55	N	2.78	T	-1.004	T	0.025	T	0.135	-1.573	0.014	0.721	0.204	1.133	8.086	0.019	0.00364362051594	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.739e-06	0.0001	2.726e-06	2.753e-06	2.701e-06	6.4e-07	4.3e-07	7.2e-07	2e-07	0	0	3.828e-05	0	0	0	2.701e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.358	0.11994	T	0.365	0.16717	T	0.278	0.32022	B	0.057	0.26280	B	0.038933	0.24228	N	0.350345	0.999403	0.21245	N	1.395	0.35261	L	1.98	0.21865	T	-0.26	0.11185	N	0.172	0.18376	-1.0035	0.28903	T	0.025	0.10866	T	10	0.101587355	0.18570	T	0.003644	0.08371	T	0.019	0.03383	0.111	0.02112	0.462721901306	0.45895	0.30406387633743254	0.30319	0.206316586236	0.23055	0.261323869228	0.05050	T	0.005306	0.11036	T	-0.27156	0.11583	T	-0.627853	0.10578	T	0.260672181844711	0.23344	T	0.427357	0.11519	T	0.026715023	0.01764	0.03884978	0.03847	0.026715023	0.01763	0.03884978	0.03846	-5.641	0.43165	T	0.1164478318514886	0.10529	0.110	0.22135	B	.;.;.	.;.;.	1.711545	0.21796	15.35	0.15711081566189278	0.00394	0.77281	0.37980	D	AEFBI	0.241180	0.36284	N	-0.496248800179662	0.22203	1.183913	-0.415350861612596	0.24546	1.344766	0.0736999754895762	0.15642	0.706298	0.61202	0	0.709663	0.81188	0	0.573888	0.23631	0	0.655142	0.61905	0	.	.	4.79	0.721	0.17373	1.167000	0.31456	-0.698000	0.07808	-0.200000	0.08971	0.996000	0.39380	0.000000	0.08366	0.044000	0.14658	0.0:0.4337:0.0:0.5663	8.086	0.29933	806	0.43582	.;.;.	.	.	.	.	.	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	0.2857	1784.86	153	chr7	93102964	.	C	G	1784.86	.	AC=12;AF=0.286;AN=42;BaseQRankSum=-6.633e+00;DP=3581;ExcessHet=9.6308;FS=118.636;InbreedingCoeff=-0.4288;MLEAC=12;MLEAF=0.286;MQ=60.00;MQRankSum=0.00;QD=0.78;ReadPosRankSum=0.355;SOR=12.465	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:160,28:196:99:.:.:106,0,5734	9	0	12	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	0/1:160,40:200:99:.:.:172,0,5724	2	0	19	0
chr7	99425250	99425250	C	T	exonic	ATP5MF-PTCD1;PTCD1	.	nonsynonymous SNV	PTCD1:NM_015545:exon6:c.G1282A:p.A428T	.	.	419	1069	34	0	0	34	0.0156538	.	.	2825912	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.53	T	0.06	B	0.021	B	0.323	N	1.000	N	0.345	N	-0.09	T	-1.026	T	0.105	T	0.154	1.099	9.484	2.75	0.275	0.090	6.653	0.019	.	0.0012	0.00219649	0.0022	0.0005	0.0008	0	0.0002	0.0017	0.0044	0.0083	0.0020504	317	154602	rs147045279	0.0017	0.0017	0.0014	0.0019	0.0141	0.0016	0.0016	0.0116	0.0107	0.0005	0.0011	0.0015	0	5.628e-05	0.0141	0.0012	0.0022	0.0087	0.0014	0.0014	0.0013	0.0015	0.0075	0.0013	0.0012	0.0055	0.0049	0.0004	0	0.0018	0.0017	0	9.416e-05	0.0170	0.0017	0.0033	0.0075	0.628	0.05262	T	0.581	0.08476	T	0.036	0.23119	B	0.005	0.19346	B	0.323285	0.14234	N	0.719311	1	0.08975	N	0.345	0.11182	N	-0.12	0.64630	T	0.44	0.03243	N	0.189	0.21056	-1.0264	0.21625	T	0.105	0.38464	T	10	0.0060635805	0.00136	T	.	.	.	0.019	0.03383	.	.	0.253205268125	0.24938	0.2198370897639818	0.24760	0.0920449276398	0.10393	0.221883535385	0.01422	T	0.010152	0.09188	T	-0.504016	0.00543	T	-0.490363	0.23352	T	0.000743209232149787	0.00007	T	0.238576	0.03390	T	0.021128131	0.00700	0.034246337	0.02459	0.021128131	0.00700	0.034246337	0.02459	-4.056	0.24639	T	.	.	0.066	0.02927	B	.;.	.;.	0.545576	0.09141	5.925	0.65804664471432339	0.07877	0.01854	0.05730	N	AEFBI	0.028975	0.02651	N	-1.14432020220704	0.05874	0.2689332	-1.10255730857523	0.07651	0.3730167	1.45210377330431E-4	0.05573	0.719381	0.83141	0	0.702456	0.74545	0	0.723133	0.82415	0	0.635551	0.53088	0	.	.	5.66	2.75	0.31439	0.236000	0.17745	1.932000	0.29777	-0.107000	0.15377	0.002000	0.15269	0.962000	0.29361	0.034000	0.13613	0.3204:0.1307:0.5489:0.0	6.653	0.22162	400	0.82730	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	4612.92	34	chr7	99425250	.	C	T	4612.92	.	AC=4;AF=0.095;AN=42;BaseQRankSum=1.33;DP=1015;ExcessHet=0.6776;FS=1.657;InbreedingCoeff=-0.1053;MLEAC=4;MLEAF=0.095;MQ=60.00;MQRankSum=0.00;QD=12.04;ReadPosRankSum=0.468;SOR=0.631	GT:AD:DP:GQ:PL	0/1:56,41:97:99:1112,0,1491	17	0	4	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|1:80,51:131:99:0|1:100175805_G_C:988,0,2439:100175805	0	0	21	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|2:64,0,45:109:99:0|1:100773849_CCAT_C:1690,1882,4539,0,2657,2522:100773849	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|1:63,45,0:108:99:0|1:100773849_CCAT_C:1692,0,2489,1882,2625,4507:100773849	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|1:451,166,73:690:99:0|1:100952942_T_G:5613,0,18433,3905,15869,22623:100952942	0	0	19	0
chr7	100953028	100953028	-	GTACCATGGTGACATTCACAACCATGAACCCATCCTCTCTGAGTACAGACATATCTACCACCACACTGAAAAATATCAC	exonic	MUC3A	.	frameshift insertion	MUC3A:NM_005960:exon2:c.1249_1250insGTACCATGGTGACATTCACAACCATGAACCCATCCTCTCTGAGTACAGACATATCTACCACCACACTGAAAAATATCAC:p.A417Gfs*177,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3571	36435.43	913	chr7	100953028	.	G	A,GGTACCATGGTGACATTCACAACCATGAACCCATCCTCTCTGAGTACAGACATATCTACCACCACACTGAAAAATATCAC	36435.43	.	AC=14,1;AF=0.333,0.024;AN=42;BaseQRankSum=-2.516e+00;DP=15155;ExcessHet=17.4423;FS=4.148;InbreedingCoeff=-0.5556;MLEAC=14,1;MLEAF=0.333,0.024;MQ=57.92;MQRankSum=-3.081e+00;QD=3.07;ReadPosRankSum=3.23;SOR=1.199	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:677,119,0:796:99:0|1:100952942_T_G:2959,0,28069,4997,28427,33424:100952942	6	0	14	0
chr7	100953071	100953071	C	T	exonic	MUC3A	.	nonsynonymous SNV	MUC3A:NM_005960:exon2:c.C1292T:p.S431F,	.	.	416	1044	62	0	0	62	0.0288372	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.386e-06	0.0028	3.574e-06	5.169e-06	4.765e-06	1.29e-06	9.3e-07	1.12e-06	7.5e-07	0	0	0	0	2.69e-05	0	4.765e-06	0	0	0	0.0042	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	0.002	0.79402	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.049	0.07811	.	.	.	.	.	.	.	0.0868344	0.14800	T	.	.	.	.	.	.	.	.	.	0.019857046747126048	0.01938	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.475152	0.14192	T	.	.	.	.	.	.	.	.	-7.542	0.57905	D	.	.	0.254	0.48827	B	.;.	.;.	0.947004	0.13229	9.730	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.337000	0.19582	-1.142000	0.06206	0.529000	0.24592	0.000000	0.06391	0.000000	0.08366	0.008000	0.08271	.	.	.	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	0.1667	8258.55	795	chr7	100953071	.	C	T	8258.55	.	AC=7;AF=0.167;AN=42;BaseQRankSum=3.74;DP=15016;ExcessHet=2.5830;FS=6.358;InbreedingCoeff=-0.2000;MLEAC=7;MLEAF=0.167;MQ=57.50;MQRankSum=-3.156e+00;QD=1.60;ReadPosRankSum=-2.712e+00;SOR=1.526	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:729,100:829:99:0|1:100952942_T_G:2005,0,30310:100952942	14	0	7	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|1:415,62,0:477:99:0|1:100953098_G_C:1354,0,17239,2603,17426,20029:100953098	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	0/2:419,0,42:481:99:502,1764,19357,0,17594,17467	1	0	18	0
chr7	100953225	100953225	G	0	exonic	MUC3A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3529	2681.5	334	chr7	100953225	.	G	A,*	2681.5	.	AC=9,3;AF=0.265,0.088;AN=34;BaseQRankSum=4.49;DP=8651;ExcessHet=9.6308;FS=0.000;InbreedingCoeff=-0.5000;MLEAC=10,3;MLEAF=0.294,0.088;MQ=58.08;MQRankSum=-1.903e+01;QD=0.52;ReadPosRankSum=-5.501e+00;SOR=0.777	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:389,17,32:438:99:.:.:167,635,17505,0,15599,16154	5	0	9	4
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	0/1:371,201,0:720:99:.:.:6755,0,11278,8043,12596,24963	0	0	19	0
chr7	100953490	100953490	G	0	exonic	MUC3A	.	.	.	.	.	745	492	219	17	49	302	0.204527	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4524	36352.82	833	chr7	100953490	.	G	T,*	36352.82	.	AC=17,2;AF=0.405,0.048;AN=42;BaseQRankSum=-2.232e+00;DP=18586;ExcessHet=36.0830;FS=0.000;InbreedingCoeff=-0.8261;MLEAC=17,2;MLEAF=0.405,0.048;MQ=57.38;MQRankSum=-1.467e+01;QD=2.05;ReadPosRankSum=5.58;SOR=0.713	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:688,139,0:827:99:0|1:100953486_C_A:3766,0,28471,5837,28889,34726:100953486	2	0	17	0
chr7	100953548	100953548	C	T	exonic	MUC3A	.	nonsynonymous SNV	MUC3A:NM_005960:exon2:c.C1769T:p.T590I,	.	.	874	413	160	24	51	259	0.201161	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1357514460	0.0006	0.0062	0.0004	0.0007	0.0021	0.0005	0.0005	0.0013	0.0010	0.0003	0.0006	0.0002	4.417e-05	0.0005	0.0006	0.0006	0.0004	0.0021	2.746e-05	0.0091	1.343e-05	4.212e-05	0.0004	8.42e-06	5.33e-06	7.232e-05	3.008e-05	0	0	6.811e-05	0	0.0004	9.921e-05	0	0	0	0	.	.	.	0.033	0.53072	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.041	0.01421	.	.	.	.	.	.	.	0.117088854	0.22104	T	.	.	.	.	.	.	.	.	.	0.03503252016017476	0.03450	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.347765	0.07665	T	.	.	.	.	.	.	.	.	-7.218	0.55610	T	.	.	0.207	0.43352	B	.;.	.;.	1.622838	0.20726	14.88	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.220000	0.32095	0.001000	0.13291	0.470000	0.21925	0.001000	0.13787	0.000000	0.08366	0.044000	0.14658	.	.	.	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	0.4286	33287.25	909	chr7	100953548	.	C	G,T	33287.25	.	AC=15,3;AF=0.357,0.071;AN=42;BaseQRankSum=1.28;DP=19526;ExcessHet=30.0624;FS=0.819;InbreedingCoeff=-0.7477;MLEAC=15,3;MLEAF=0.357,0.071;MQ=55.79;MQRankSum=-8.386e+00;QD=1.94;ReadPosRankSum=3.82;SOR=0.845	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:821,67,0:888:99:.:.:342,0,34272,2813,34474,37287	3	0	15	0
chr7	100955170	100955170	G	0	exonic	MUC3A	.	.	.	.	.	487	947	75	0	13	88	0.0380904	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.175	250.36	306	chr7	100955170	.	G	T,*	250.36	.	AC=3,4;AF=0.075,0.100;AN=40;BaseQRankSum=0.637;DP=7032;ExcessHet=2.5830;FS=10.762;InbreedingCoeff=-0.2103;MLEAC=2,4;MLEAF=0.050,0.100;MQ=58.89;MQRankSum=-1.674e+01;QD=0.10;ReadPosRankSum=-9.590e-01;SOR=1.815	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:335,25,0:360:41:0|1:100955142_C_T:41,0,13991,1050,14067,15116:100955142	13	0	3	1
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|1:364,41,41:446:0:0|1:100955573_C_A:626,0,15161,0,13563,15161:100955573	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|1:366,41,40:447:42:0|1:100955573_C_A:620,0,15245,42,13689,15290:100955573	3	0	14	1
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	1/1:0,130,0:130:99:.:.:3852,389,0,3852,389,3852	0	3	5	12
chr7	100959782	100959782	C	T	exonic	MUC3A	.	nonsynonymous SNV	MUC3A:NM_005960:exon2:c.C8003T:p.T2668M,	.	.	407	1114	1	0	0	1	0.000448632	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07	T	1.0	D	0.869	P	.	.	0.723	N	0	N	2.63	T	-1.016	T	0.031	T	0.067	1.437	10.74	0.768	0.685	2.772	7.340	0.094	.	0.0002	0.00119808	0.0001	0	0.0005	0.0006	0	1.647e-05	0	0	0.0001164	18	154602	rs372171366	3.6e-05	3.694e-05	3.032e-05	4.174e-05	0.0005	2.796e-05	2.531e-05	0.0004	0.0003	0	0.0005	3.856e-05	0.0001	0	0.0002	8.102e-06	0.0002	0	0.0002	0.0003	0.0002	0.0003	0.0018	0.0002	0.0001	0.0012	0.0011	7.21e-05	0	0.0018	0	0	0	0	2.939e-05	0.0009	0	.	.	.	0.006	0.70582	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.149	0.34767	-1.0156	0.25143	T	0.031	0.13330	T	8	0.0060295165	0.00135	T	.	.	.	.	.	.	.	0.0920862733494	0.08535	0.041419374462878016	0.04086	.	.	0.313324838877	0.12409	T	.	.	.	-0.258955	0.13022	T	-0.609748	0.12004	T	0.0837211602526988	0.10456	T	0.593441	0.21910	T	0.028494544	0.02197	0.07124279	0.15231	0.028494544	0.02196	0.07124279	0.15231	-6.39	0.49432	T	.	.	0.156	0.34536	B	.;.	.;.	2.489776	0.32122	18.95	0.98836141084576001	0.47035	0.07857	0.13849	N	AEFDBI	0.122786	0.23808	N	-0.516351263134405	0.21551	1.14456	-0.747820052415579	0.15776	0.8313783	0.999518445176976	0.40117	0.632932	0.41330	0	0.563428	0.19063	0	0.601832	0.32385	0	0.530356	0.10902	0	.	.	0.768	0.768	0.17633	1.377000	0.33923	0.453000	0.18541	0.549000	0.26987	0.013000	0.18845	0.002000	0.18203	0.013000	0.09966	0.0:0.9999:0.0:1.0E-4	7.340	0.25803	808	0.43318	.;.	.	.	.	.	.	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	2891.98	413	chr7	100959782	.	C	T	2891.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=5.41;DP=9506;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=5.74;ReadPosRankSum=0.175;SOR=0.765	GT:AD:DP:GQ:PL	0/1:375,129:504:99:2906,0,10207	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|1:354,235,0:589:99:0|1:100960582_T_A:8719,0,13880,9785,14587,24372:100960582	0	0	15	0
chr7	100993793	100993793	G	C	exonic	MUC12	.	nonsynonymous SNV	MUC12:NM_001164462:exon2:c.G3230C:p.R1077P,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.42	T	.	.	.	.	.	.	1.000	N	0	N	2.56	T	-0.960	T	0.013	T	0.075	-1.543	0.015	-1.43	-1.374	-3.324	3.600	0.012	0.00621508415409	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.401e-07	2.145e-06	1.666e-06	0	.	0	0	.	.	0	0	4.363e-05	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.265	0.16305	T	0.121	0.38305	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	-1.245	0.00777	N	2.56	0.13673	T	0.74	0.02195	N	0.072	0.04547	-0.9602	0.39143	T	0.013	0.05321	T	7	0.043498784	0.03206	T	0.006215	0.16288	T	0.012	0.01476	0.248	0.18447	0.0611884634855	0.05136	0.005906217657864873	0.00559	.	.	0.43521848321	0.29923	T	0.003125	0.02525	T	-0.402733	0.02222	T	-0.816275	0.01529	T	0.0403918094199361	0.03762	T	0.19518	0.02617	T	0.06752166	0.14628	0.06679672	0.13731	0.06752166	0.14627	0.06679672	0.13730	-0.242	0.00516	T	.	.	0.128	0.27222	B	.;.	.;.	-0.934925	0.00869	0.031	0.29610672802724564	0.01579	0.00031	0.00285	N	AEFI	0.033891	0.04103	N	-1.54228350050429	0.01580	0.06903556	-1.7230075608435	0.01039	0.04663319	7.56152405580516E-5	0.04552	0.615465	0.37627	0	0.633656	0.55848	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	0.713	-1.43	0.08418	-1.643000	0.02106	-8.680000	0.00930	-1.778000	0.00656	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.2214:0.4862:0.2924	3.600	0.07567	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	0.1	2373.58	147	chr7	100993793	.	G	A,C	2373.58	.	AC=3,1;AF=0.075,0.025;AN=40;BaseQRankSum=0.552;DP=2632;ExcessHet=0.6776;FS=5.019;InbreedingCoeff=-0.1200;MLEAC=3,1;MLEAF=0.075,0.025;MQ=29.88;MQRankSum=1.67;QD=3.85;ReadPosRankSum=0.093;SOR=1.109	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:112,34,0:146:99:.:.:427,0,2424,763,2526,3289	16	0	3	1
chr7	102491004	102491004	-	GTCTGGGGCCTGCCGGC	exonic	RASA4B	.	frameshift insertion	RASA4B:NM_001367767:exon17:c.1949_1950insGCCGGCAGGCCCCAGAC:p.A651Pfs*14,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1485832011	0.0010	0.0015	0.0009	0.0010	0.0029	0.0009	0.0009	0.0025	0.0024	0.0002	0.0004	7.387e-05	0	0.0001	0.0020	0.0010	0.0008	0.0029	0.0008	0.0013	0.0008	0.0009	0.0029	0.0007	0.0007	0.0016	0.0012	0.0001	0.0039	0.0004	0	0	0	0.0071	0.0014	0.0005	0.0029	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05263	124.11	7	chr7	102491004	.	A	AGTCTGGGGCCTGCCGGC	124.11	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-1.830e-01;DP=142;ExcessHet=0.1190;FS=0.000;InbreedingCoeff=-0.0730;MLEAC=2;MLEAF=0.053;MQ=32.99;MQRankSum=0.967;QD=4.60;ReadPosRankSum=-3.740e-01;SOR=0.066	GT:AD:DP:GQ:PL	0/1:7,3:10:99:105,0,281	17	0	2	2
chr7	102934282	102934282	G	C	exonic	LRRC17	.	nonsynonymous SNV	LRRC17:NM_001031692:exon2:c.G369C:p.E123D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.0	B	0.002	B	0.005	N	1.000	D	-0.515	N	0.26	T	-0.990	T	0.059	T	0.045	-0.292	2.603	3.61	1.478	0.025	7.418	0.102	0.00550950631605	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	0.541	0.10678	T	0.0	0.02946	B	0.002	0.06944	B	0.004721	0.33446	N	0.207615	1	0.81001	D	-0.18	0.04256	N	0.26	0.59314	T	2.97	0.00304	N	0.088	0.06587	-0.9900	0.32601	T	0.059	0.24871	T	10	0.0402624	0.02580	T	0.00551	0.14197	T	0.102	0.29158	0.593	0.72247	0.630674063255	0.62765	0.32803734693529624	0.32716	0.23164822142	0.25718	0.39575278759	0.24477	T	0.001762	0.01186	T	-0.263963	0.12439	T	-0.616941	0.11426	T	0.0953304618597031	0.11836	T	0.758424	0.38228	T	0.07261241	0.16165	0.063943654	0.12744	0.07261241	0.16165	0.063943654	0.12743	-1.533	0.03110	T	.	.	0.084	0.33156	B	.;.	.;.	1.403225	0.18178	13.59	0.79853046318071419	0.12930	0.67709	0.33531	D	AEFDBIJ	0.199371	0.32618	N	-0.6476857485773	0.17528	0.9027043	-0.402716744649766	0.24916	1.367225	0.999999761740133	0.74766	0.706298	0.61202	0	0.59043	0.45803	0	0.338622	0.05889	2	0.613276	0.41899	0	.	.	5.52	3.61	0.40494	0.038000	0.13749	0.020000	0.13575	0.676000	0.76740	0.830000	0.30133	0.455000	0.24973	0.993000	0.69303	0.1452:0.1381:0.7166:0.0	7.418	0.26231	455	0.79073	.;.	.	.	.	.	.	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	0.1429	849.76	35	chr7	102934282	.	G	C	849.76	.	AC=6;AF=0.143;AN=42;BaseQRankSum=-5.273e+00;DP=2518;ExcessHet=1.7912;FS=177.018;InbreedingCoeff=-0.1745;MLEAC=6;MLEAF=0.143;MQ=60.00;MQRankSum=0.00;QD=0.90;ReadPosRankSum=0.346;SOR=11.212	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:102,21:123:34:0|1:102934282_G_C:34,0,3339:102934282	15	0	6	0
chr7	102934283	102934283	G	C	exonic	LRRC17	.	nonsynonymous SNV	LRRC17:NM_001031692:exon2:c.G370C:p.A124P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.999	D	0.000	D	1.000	D	2.58	M	0.09	T	-0.079	T	0.414	T	0.931	4.705	26.1	4.65	1.469	7.967	14.775	0.686	0.102285869568	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.369e-06	1.642e-05	1.362e-06	1.376e-06	8.996e-07	2.3e-07	9e-08	.	.	0	0	0	0	0	0	8.996e-07	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.91255	D	0.013	0.63109	D	1.0	0.90584	D	0.999	0.92359	D	0.000018	0.62929	D	0.000000	1	0.81001	D	2.48	0.72069	M	0.09	0.61443	T	-4.69	0.79743	D	0.866	0.91621	-0.0790	0.80575	T	0.414	0.76122	T	10	0.83823025	0.82978	D	0.102286	0.77566	D	0.686	0.88538	0.608	0.74063	0.884098710478	0.88296	0.8411723386298476	0.84077	1.02869255285	0.75355	0.595906376839	0.52327	T	0.053493	0.29459	T	0.351657	0.86616	D	0.267354	0.86441	D	0.998028337955475	0.93033	D	0.90001	0.65919	D	0.958163	0.97095	0.93957394	0.97739	0.958163	0.97095	0.93957394	0.97740	-8.842	0.66674	D	.	.	0.973	0.90137	P	.;.	.;.	4.615823	0.73244	26.0	0.99771405677723168	0.85918	0.99139	0.91801	D	AEFDBIJ	0.974099	0.99537	D	0.77679732466033	0.84635	8.343356	0.724224124696295	0.84219	8.231214	0.999999999999933	0.74766	0.706298	0.61202	0	0.59043	0.45803	0	0.338622	0.05889	2	0.613276	0.41899	0	.	.	5.52	4.65	0.57626	8.066000	0.89276	4.610000	0.44033	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.0697:0.0:0.9303:0.0	14.775	0.69347	455	0.79073	.;.	.	.	.	.	.	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	0.25	1847.14	124	chr7	102934283	.	G	C	1847.14	.	AC=10;AF=0.250;AN=40;BaseQRankSum=-4.298e+00;DP=2977;ExcessHet=6.1002;FS=207.422;InbreedingCoeff=-0.3468;MLEAC=11;MLEAF=0.275;MQ=60.00;MQRankSum=0.00;QD=1.17;ReadPosRankSum=0.257;SOR=12.042	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:102,21:123:34:0|1:102934282_G_C:34,0,3339:102934282	10	0	10	1
chr7	117540273	117540273	T	A	exonic	CFTR	.	nonsynonymous SNV	CFTR:NM_000492:exon8:c.T1043A:p.M348K,	Congenital bilateral absence of vas deferens, Autosomal recessive;Cystic fibrosis, Autosomal recessive;Sweat chloride elevation without CF (3)	YES	0	1520	2	0	0	2	0.000657462	.	.	67841	Cystic_fibrosis|not_specified|CFTR-related_disorder|not_provided	MONDO:MONDO:0009061,MedGen:C0010674,OMIM:219700,Orphanet:586|MedGen:CN169374|.|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0	D	0.996	D	0.991	D	0.000	D	1.000	D	1.7	L	-2.59	D	0.694	D	0.772	D	0.985	4.705	26.1	5.39	2.156	7.584	15.694	0.927	0.736780914862	7.7e-05	.	0.0002	0	0.0002	0	0	0.0003	0	0	0.0001294	20	154602	rs142920240	0.0001	0.0001	0.0001	0.0001	0.0007	0.0001	0.0001	0.0002	0.0001	2.987e-05	0.0001	0	0	1.872e-05	0.0007	0.0001	0.0002	0	7.885e-05	8.537e-05	0.0001	5.38e-05	0.0001	4.497e-05	3.512e-05	6.805e-05	5.088e-05	0	0	0	0	0	0	0	0.0001	0.0014	0	0.0	0.91255	D	0.0	0.92824	D	0.996	0.68779	D	0.991	0.79672	D	0.000000	0.84330	D	0.000000	1	0.81001	D	1.95	0.52479	M	-2.59	0.89822	D	-2.97	0.61865	D	0.94	0.94668	0.694	0.93099	D	0.772	0.92252	D	10	0.8749697	0.86782	D	0.736781	0.97887	D	0.927	0.98229	.	.	0.993634915165	0.99356	0.9814907381668324	0.98141	0.00369184875743	0.00316	0.761901021004	0.76212	T	0.818952	0.95552	D	0.243013	0.77945	D	0.396008	0.91980	D	0.254882908323187	0.23090	T	0.969703	0.89491	D	0.9475731	0.96018	0.84129494	0.90924	0.9371919	0.94962	0.8720538	0.93009	-14.652	0.94983	D	0.7992747305683549	0.87634	0.935	0.86846	P	.;.;.;.;.	.;.;.;.;.	4.493132	0.70201	25.5	0.98736765920267222	0.45437	0.98238	0.80821	D	AEFI	0.977938	0.99746	D	0.732290199300938	0.81750	7.595643	0.725768964040585	0.84334	8.263437	0.999973483006093	0.50053	0.638212	0.43195	0	0.573888	0.26702	0	0.653264	0.51672	0	0.613276	0.41899	0	.	.	5.39	5.39	0.77615	7.538000	0.80960	6.152000	0.54210	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.0:0.0:0.0:1.0	15.694	0.77239	790	0.46189	ABC transporter type 1, transmembrane domain;.;.;ABC transporter type 1, transmembrane 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	1	0	0.02381	2202.98	36	chr7	117540273	.	T	A	2202.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.614;DP=876;ExcessHet=0.0000;FS=0.571;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.66;ReadPosRankSum=-1.080e-01;SOR=0.632	GT:AD:DP:GQ:PL	0/1:90,84:174:99:2217,0,2435	20	0	1	0
chr7	123628874	123628878	TATCT	-	exonic	ASB15	.	frameshift deletion	ASB15:NM_080928:exon8:c.880_884del:p.L295Pfs*5	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2765.94	34	chr7	123628873	.	ATATCT	A	2765.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.675;DP=848;ExcessHet=0.0000;FS=1.300;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=18.08;ReadPosRankSum=0.790;SOR=0.833	GT:AD:DP:GQ:PL	0/1:81,72:153:99:2780,0,3184	20	0	1	0
chr7	123662428	123662428	C	T	exonic	LMOD2	.	nonsynonymous SNV	LMOD2:NM_207163:exon2:c.C842T:p.T281M,	.	.	425	1094	3	0	0	3	0.00136924	.	.	2227225	Inborn_genetic_diseases	MeSH:D030342,MedGen:C0950123	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0	D	1.0	D	0.997	D	.	.	1.000	D	2.965	M	-3.16	D	1.026	D	0.913	D	0.93	4.170	21.6	5.35	2.648	3.890	19.425	0.885	0.32187447373	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1475063418	2.326e-05	2.326e-05	2.45e-05	2.2e-05	8.961e-05	1.674e-05	1.477e-05	2.995e-05	2.038e-05	8.961e-05	0	0	2.519e-05	0	0	1.619e-05	9.938e-05	6.956e-05	1.315e-05	1.314e-05	1.285e-05	1.347e-05	6.548e-05	2.19e-06	8.2e-07	.	.	0	0	6.548e-05	0	0	0	0	1.47e-05	0	0	0.0	0.91255	D	0.001	0.83351	D	1.0	0.90584	D	0.997	0.86255	D	.	.	.	.	0.999951	0.81001	D	3.335	0.90898	M	-3.16	0.92996	D	-5.15	0.83357	D	0.732	0.73285	1.026	0.97648	D	0.913	0.97116	D	9	0.8903273	0.88373	D	0.321874	0.91498	D	0.885	0.96651	0.69	0.82748	0.879669841883	0.87849	0.7111123131694083	0.71053	0.484536605155	0.47358	0.627710342407	0.56821	T	0.376643	0.74000	T	0.340315	0.85852	D	0.43259	0.93121	D	0.980912983417511	0.73618	D	0.977902	0.92154	D	0.5157815	0.68017	0.44821414	0.67873	0.5157815	0.68018	0.44821414	0.67874	-12.572	0.87525	D	.	.	0.846	0.79531	P	.	.	5.083598	0.84853	28.4	0.99915238029275344	0.98379	0.89843	0.50574	D	AEFGBCI	0.607500	0.59744	D	0.811066902239064	0.86794	9.001023	0.752377549207154	0.86332	8.85603	0.999999999681078	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.530356	0.10902	0	.	.	5.35	5.35	0.76297	3.998000	0.56736	4.912000	0.45962	0.549000	0.26987	0.999000	0.42656	1.000000	0.68203	0.945000	0.48827	0.0:1.0:0.0:0.0	19.425	0.94732	731	0.54177	.	.	.	.	.	.	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	2713.98	45	chr7	123662428	.	C	T	2713.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.58;DP=904;ExcessHet=0.0000;FS=1.154;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.36;ReadPosRankSum=1.03;SOR=0.587	GT:AD:DP:GQ:PL	0/1:94,95:189:99:2728,0,2445	20	0	1	0
chr7	127595503	127595503	G	A	exonic	FSCN3	.	nonsynonymous SNV	FSCN3:NM_020369:exon2:c.G341A:p.R114H,	.	.	428	1092	2	0	0	2	0.000914913	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.21	T	0.037	B	0.008	B	0.010	N	1.000	D	0.49	N	1.81	T	-1.082	T	0.035	T	0.146	2.403	13.99	3.76	1.502	1.132	9.064	0.015	0.00865986651429	7.7e-05	0.00139776	0.0004	0	0.0002	0.0001	0	0.0001	0.0011	0.0025	0.0003881	60	154602	rs199821862	0.0002	0.0002	0.0001	0.0003	0.0024	0.0002	0.0002	0.0021	0.0020	2.987e-05	0.0002	0.0002	0.0003	0	0.0003	4.766e-05	0.0002	0.0024	0.0002	0.0002	0.0001	0.0003	0.0027	0.0001	0.0001	0.0016	0.0013	2.406e-05	0	0.0001	0	0.0010	0	0	0.0001	0	0.0027	0.059	0.37536	T	0.295	0.20680	T	0.037	0.20876	B	0.008	0.13708	B	0.009931	0.30138	N	0.293319	0.731532	0.81001	D	1.215	0.30540	L	1.81	0.25182	T	-1.73	0.41046	N	0.238	0.26837	-1.0819	0.06984	T	0.035	0.15160	T	10	0.016237557	0.00342	T	0.00866	0.22878	T	0.015	0.02232	.	.	0.327419511103	0.32360	0.41589163055189926	0.41505	0.0946874709311	0.10699	0.311866939068	0.12189	T	0.004224	0.03630	T	-0.549002	0.00296	T	-0.566307	0.15790	T	0.0139722294047778	0.00268	T	0.768323	0.39714	T	0.05841275	0.11747	0.06204677	0.12079	0.05841275	0.11747	0.06204677	0.12079	-5.046	0.37336	T	.	.	0.074	0.05103	B	.	.	2.381927	0.30579	18.48	0.99646453295633031	0.77005	0.14834	0.18609	N	AEFDBI	0.156599	0.28198	N	-0.494879139158073	0.22248	1.186611	-0.371503590392971	0.25850	1.424176	0.996920607418257	0.35121	0.554377	0.28877	0	0.588066	0.40923	0	0.602189	0.34648	0	0.542086	0.14980	0	.	.	5.58	3.76	0.42368	1.177000	0.31578	4.425000	0.43330	0.676000	0.76740	0.067000	0.21986	0.999000	0.35428	0.946000	0.48989	0.1759:0.0:0.8241:0.0	9.064	0.35612	0	0.99858	Fascin domain|Fascin domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	3289.98	37	chr7	127595503	.	G	A	3289.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.72;DP=905;ExcessHet=0.0000;FS=3.993;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.89;ReadPosRankSum=0.432;SOR=0.823	GT:AD:DP:GQ:PL	0/1:88,119:207:99:3304,0,2121	20	0	1	0
chr7	127596418	127596418	G	A	exonic	FSCN3	.	nonsynonymous SNV	FSCN3:NM_020369:exon3:c.G932A:p.R311H,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.12	T	1.0	D	0.996	D	0.001	D	0.998	D	0.55	N	1.22	T	-0.751	T	0.214	T	0.818	4.008	20.5	5.55	2.768	3.305	15.367	0.264	0.026157597416	0.0002	0.000798722	0.0007	9.61e-05	0	0.0032	0.0050	0.0003	0.0011	0.0003	0.0006468	100	154602	rs144351439	0.0004	0.0004	0.0004	0.0005	0.0060	0.0004	0.0004	0.0053	0.0051	3.017e-05	2.238e-05	0.0002	0.0060	0.0036	0	0.0001	0.0006	0.0002	0.0006	0.0006	0.0004	0.0008	0.0052	0.0005	0.0005	0.0037	0.0032	7.225e-05	0	6.542e-05	0	0.0052	0.0043	0	0.0001	0.0005	0.0010	0.072	0.34982	T	0.0	0.92824	D	1.0	0.90584	D	0.981	0.75168	D	0.000509	0.43753	D	0.105600	0.997741	0.44152	D	2.595	0.75868	M	1.22	0.37052	T	-3.25	0.65283	D	0.617	0.63289	-0.7509	0.57888	T	0.214	0.57494	T	10	0.032537848	0.01408	T	0.026158	0.49088	D	0.264	0.57741	.	.	0.536474986538	0.53298	0.5496814856125878	0.54894	0.466169075788	0.46028	0.405578017235	0.25844	T	0.043547	0.26535	T	-0.228473	0.16851	T	-0.103384	0.63135	T	0.0852102204984558	0.10640	T	0.849215	0.53152	T	0.14881119	0.33955	0.14824715	0.35051	0.14881119	0.33955	0.14824715	0.35051	-5.74	0.44048	T	.	.	0.120	0.24666	B	.	.	4.824886	0.78622	26.9	0.99932087788298563	0.99439	0.80981	0.40484	D	AEFDBI	0.468666	0.51537	N	0.473514193737705	0.65549	4.836457	0.49614895443713	0.67735	5.123885	0.999999150049964	0.74766	0.549168	0.22868	0	0.547309	0.14657	0	0.602189	0.34648	0	0.616125	0.45549	0	.	.	5.55	5.55	0.83298	3.327000	0.51757	6.586000	0.56011	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.912000	0.44740	0.0:0.0:1.0:0.0	15.367	0.74244	0	0.99858	Fascin domain|Fascin domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1090.98	36	chr7	127596418	.	G	A	1090.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.300e-01;DP=828;ExcessHet=0.0000;FS=0.704;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.74;ReadPosRankSum=-7.410e-01;SOR=0.789	GT:AD:DP:GQ:PL	0/1:62,50:112:99:1105,0,1486	20	0	1	0
chr7	131556276	131556276	-	GGCGAC	exonic	PODXL	.	nonframeshift insertion	PODXL:NM_001018111:exon1:c.83_84insGTCGCC:p.S31_Q32insPS	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5238	24221.88	24	chr7	131556270	.	GGGCGAC	G,GGGCGACGGCGAC	24221.88	.	AC=15,13;AF=0.357,0.310;AN=42;BaseQRankSum=0.430;DP=932;ExcessHet=0.0019;FS=0.000;InbreedingCoeff=0.5714;MLEAC=15,13;MLEAF=0.357,0.310;MQ=60.00;MQRankSum=0.00;QD=33.09;ReadPosRankSum=0.348;SOR=0.686	GT:AD:DP:GQ:PL	0/1:31,8,0:39:99:243,0,1277,336,1302,1638	5	3	3	0
chr7	139142265	139142265	G	A	exonic	TTC26	.	nonsynonymous SNV	TTC26:NM_001144923:exon4:c.G266A:p.S89N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.36	T	0.948	P	0.487	P	0.000	N	1.000	D	1.88	L	1.57	T	-0.418	T	0.380	T	0.198	3.231	16.83	5.27	2.604	6.705	19.244	0.106	0.0347811345149	7.7e-05	0.000199681	8.252e-06	0	0	0	0	1.501e-05	0	0	1.29e-05	2	154602	rs371222020	4.31e-05	4.309e-05	4.356e-05	4.263e-05	0.0090	3.443e-05	3.129e-05	0.0071	0.0064	0	0	0	0	0	0.0090	7.195e-06	4.968e-05	0	3.944e-05	3.938e-05	6.43e-05	1.344e-05	0.0001	1.716e-05	1.13e-05	4.733e-05	3.049e-05	0.0001	0	0	0	0	0	0	1.471e-05	0	0	0.167	0.29554	T	0.268	0.25907	T	0.012	0.53620	B	0.003	0.47260	B	0.000227	0.47286	N	0.183015	0.999967	0.52935	D	.	.	.	-0.99	0.75911	T	-2.09	0.50175	N	0.514	0.66187	-0.4184	0.71444	T	0.380	0.73677	T	10	0.27614605	0.45175	T	0.034781	0.55905	D	0.106	0.30130	.	.	0.787608236138	0.78563	0.39581737327818345	0.39496	0.159144939156	0.17961	0.698339402676	0.66904	T	0.030348	0.29209	T	-0.0945499	0.37324	T	-0.309945	0.43664	T	0.778334200382233	0.44947	D	0.932107	0.86318	D	0.48992112	0.66498	0.49240017	0.70638	0.48992112	0.66499	0.49240017	0.70639	-6.77	0.62189	T	.	.	0.184	0.46562	B	.;.;.;.;.;.	.;.;.;.;.;.	3.371724	0.46592	22.3	0.99321057421738146	0.59393	0.98314	0.81539	D	AEFBI	0.802662	0.72802	D	0.270832376942749	0.54676	3.632662	0.385225831110604	0.60654	4.255319	0.999136076024054	0.38535	0.615465	0.37627	0	0.588015	0.36545	0	0.658983	0.55881	0	0.655142	0.61905	0	.	.	5.27	5.27	0.73797	6.688000	0.74387	8.595000	0.77703	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.903000	0.43903	0.0:0.0:1.0:0.0	19.244	0.93883	873	0.30802	.;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	0	0	0	0	0.02381	644.98	34	chr7	139142265	.	G	A	644.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.640e-01;DP=756;ExcessHet=0.0000;FS=5.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.08;ReadPosRankSum=2.17;SOR=0.772	GT:AD:DP:GQ:PL	0/1:34,30:64:99:659,0,798	20	0	1	0
chr7	142080808	142080808	C	G	exonic	MGAM	.	nonsynonymous SNV	MGAM:NM_001365693:exon50:c.C5865G:p.N1955K,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.82	T	.	.	.	.	.	.	0.997	N	.	.	.	.	-0.996	T	0.024	T	0.031	0.318	5.726	0.769	-0.065	0.025	1.252	0.075	0.00146914728687	.	.	0.0003	0.0001	0.0004	0.0002	0	0.0003	0	0.0004	0.0003105	48	154602	rs748656628	0.0002	0.0002	0.0002	0.0002	0.0003	0.0002	0.0001	0.0002	0.0002	5.984e-05	0.0001	3.954e-05	0.0003	0	0	0.0002	0.0001	0.0002	9.553e-05	9.431e-05	9.313e-05	9.807e-05	0.0002	5.733e-05	4.625e-05	6.099e-05	4.424e-05	7.297e-05	0	0.0001	0	0.0002	0	0	0.0001	0	0	0.067	0.35918	T	0.48	0.11899	T	.	.	.	.	.	.	.	.	.	.	0.999999	0.22936	N	.	.	.	.	.	.	-1.48	0.36189	N	0.304	0.34336	-0.9958	0.31082	T	0.024	0.10374	T	5	0.05877754	0.06964	T	0.001469	0.02241	T	0.075	0.21907	.	.	0.195762928549	0.19159	.	.	.	.	.	.	.	.	.	.	-0.564966	0.00237	T	-0.738793	0.03941	T	0.0307324149634913	0.02104	T	0.557244	0.19380	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.081	0.08033	B	.	.	1.802049	0.22907	15.81	0.90168870564910741	0.19446	0.16412	0.19377	N	AEFGI	0.155290	0.28047	N	-0.559523851472117	0.20186	1.062292	-0.633938380200123	0.18623	0.9956972	4.2196265981339E-4	0.06935	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	4.67	0.769	0.17638	0.023000	0.13424	.	.	0.596000	0.33519	0.001000	0.13787	0.000000	0.08366	0.996000	0.76049	0.1433:0.3893:0.1396:0.3278	1.252	0.01865	.	.	Galactose mutarotase, N-terminal barrel	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2853.98	38	chr7	142080808	.	C	G	2853.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.991;DP=921;ExcessHet=0.0000;FS=1.684;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=58.58;MQRankSum=-5.140e+00;QD=13.59;ReadPosRankSum=1.22;SOR=0.820	GT:AD:DP:GQ:PL	0/1:95,115:210:99:2868,0,2175	20	0	1	0
chr7	142255546	142255546	G	C	exonic	PRSS58	.	nonsynonymous SNV	PRSS58:NM_001001317:exon3:c.C168G:p.H56Q,	.	.	9	1511	2	0	0	2	0.000661376	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.991	D	.	.	1.000	D	3.71	H	-3.76	D	0.971	D	0.932	D	0.733	3.559	18.15	1.38	0.372	0.702	8.907	0.809	0.226320594255	.	0.00119808	0.0005	9.617e-05	8.684e-05	0	0	1.5e-05	0	0.0033	0.000414	64	154602	rs558381516	0.0002	0.0002	8.168e-05	0.0003	0.0027	0.0002	0.0001	0.0024	0.0023	2.988e-05	0	0	0	0	0	8.993e-07	0.0003	0.0027	0.0001	0.0001	0.0001	9.4e-05	0.0025	6.507e-05	5.32e-05	0.0014	0.0011	7.217e-05	0	0	0	0	0	0	0	0.0005	0.0025	0.0	0.91255	D	0.005	0.72224	D	1.0	0.90584	D	0.991	0.79672	D	.	.	.	.	0.999765	0.48888	D	3.975	0.96601	H	-3.76	0.95561	D	-7.69	0.95603	D	0.511	0.55799	0.971	0.96712	D	0.932	0.97744	D	9	0.09070787	0.15826	T	0.226321	0.88039	D	0.809	0.93816	0.894	0.97506	0.914531729694	0.91366	0.6457657663265323	0.64511	0.227826433758	0.25340	0.472619324923	0.35040	T	0.582768	0.86363	D	-0.00712241	0.50668	T	0.213942	0.83868	D	0.340913368931274	0.26660	T	.	.	.	0.25256982	0.48274	0.43913427	0.67275	0.25256982	0.48274	0.43913427	0.67276	-5.475	0.41633	T	.	.	0.874	0.81129	P	.;.	.;.	3.325564	0.45760	22.2	0.99440949812621526	0.64770	0.89105	0.49373	D	AEFDI	0.198872	0.32571	N	0.539338453204945	0.69436	5.356504	0.387957394914491	0.60822	4.274217	2.02109417910036E-5	0.02871	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.19	1.38	0.21262	0.816000	0.26924	.	.	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.317:0.0:0.683:0.0	8.907	0.34687	934	0.15400	Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain;Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	2097.98	42	chr7	142255546	.	G	C	2097.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.110e-01;DP=985;ExcessHet=0.0000;FS=1.247;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.19;ReadPosRankSum=1.65;SOR=0.579	GT:AD:DP:GQ:PL	0/1:80,79:159:99:2112,0,2116	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	1/1:0,52,0,0:52:99:2331,157,0,2331,157,2331,2331,157,2331,2331	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	1/1:0,52,0,0:52:99:2331,157,0,2331,157,2331,2331,157,2331,2331	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|1:85,28:113:99:0|1:143478290_A_G:411,0,1935:143478290	3	0	18	0
chr7	149891292	149891292	G	A	exonic	ACTR3C	.	stopgain	ACTR3C:NM_001351029:exon3:c.C70T:p.R24X	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000199681	.	.	.	.	.	.	.	.	0.0001921	5	26028	rs546601260	0.0001	0.0001	0.0001	0.0001	0.0002	0.0001	0.0001	0.0001	0.0001	7.879e-05	0.0001	0	2.961e-05	0	0	0.0002	0.0002	5.259e-05	0.0001	0.0001	0.0001	9.645e-05	0.0002	7.728e-05	6.406e-05	0.0001	8.972e-05	7.348e-05	0	0.0001	0	0	0	0	0.0002	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	307.98	20	chr7	149891292	.	G	A	307.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.93;DP=489;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=41.36;MQRankSum=0.492;QD=11.00;ReadPosRankSum=1.74;SOR=0.743	GT:AD:DP:GQ:PL	0/1:17,11:28:99:322,0,455	20	0	1	0
chr7	150331029	150331029	C	T	exonic	ZBED6CL	.	stopgain	ZBED6CL:NM_138434:exon1:c.C625T:p.Q209X,	.	.	425	1088	8	1	0	10	0.00457457	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.39	T	.	.	.	.	0.051	U	1.000	D	.	.	.	.	.	.	.	.	.	7.246	38	4.18	2.057	1.069	9.816	.	.	0.0027	0.00199681	0.0025	0.0005	0.0025	0	0.0003	0.0038	0.0022	0.0005	0.0026714	413	154602	rs140450745	0.0037	0.0037	0.0038	0.0036	0.0041	0.0036	0.0036	0.0040	0.0039	0.0008	0.0036	0.0135	0	0.0003	0.0033	0.0041	0.0049	0.0005	0.0033	0.0033	0.0036	0.0030	0.0063	0.0031	0.0030	0.0053	0.0049	0.0008	0.0055	0.0063	0.0147	0	0	0	0.0044	0.0095	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	0.051460	0.02025	U	4.754580	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.092	0.07125	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.177904	0.71851	D	0.486496	0.94335	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive	High	0.701483	0.10700	7.396	0.99621451284181572	0.75473	0.63997	0.32265	D	AEFDBHCI	0.108707	0.21617	N	0.700219257719169	0.79646	7.121927	0.487774524792129	0.67180	5.049455	0.999998273393581	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.643519	0.47002	0	0.567892	0.33627	0	.	.	4.18	4.18	0.48473	1.663000	0.37045	2.531000	0.33168	-0.173000	0.11020	0.978000	0.35038	0.991000	0.31484	0.022000	0.11911	0.2053:0.7947:0.0:0.0	9.816	0.40024	940	0.13648	.	.	.	.	.	.	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	1546.98	34	chr7	150331029	.	C	T	1546.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-7.900e-02;DP=886;ExcessHet=0.0000;FS=1.364;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.46;ReadPosRankSum=-1.253e+00;SOR=0.856	GT:AD:DP:GQ:PL	0/1:69,66:135:99:1561,0,1618	20	0	1	0
chr7	150340563	150340563	C	T	exonic	RARRES2	.	nonsynonymous SNV	RARRES2:NM_002889:exon2:c.G47A:p.G16D,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	T	0.004	B	0.006	B	0.068	N	1.000	N	1.645	L	.	.	-1.029	T	0.072	T	0.561	1.267	10.14	0.615	0.190	0.421	1.600	0.140	0.00669862362628	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.069e-07	4.105e-06	0	1.429e-06	3.082e-05	0	0	.	.	3.082e-05	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.115	0.29688	T	0.205	0.27145	T	0.004	0.12183	B	0.006	0.12133	B	0.068303	0.21681	N	0.431891	1	0.08975	N	1.445	0.36358	L	.	.	.	-2.81	0.59389	D	0.27	0.30574	-1.0286	0.20908	T	0.072	0.29387	T	9	0.12127891	0.22988	T	0.006699	0.17699	T	0.140	0.37593	0.485	0.56780	0.0482279557977	0.04254	0.33947742725017255	0.33860	0.177712438129	0.19995	0.579404890537	0.50002	T	0.18143	0.53310	T	-0.0287104	0.47604	T	-0.279017	0.46905	T	0.0749023800231074	0.09323	T	0.454955	0.12997	T	0.19891118	0.41811	0.17064053	0.39187	0.19891118	0.41811	0.17064053	0.39187	-6.613	0.51153	T	.	.	0.194	0.41526	B	.;.;.;.	.;.;.;.	1.244374	0.16405	12.52	0.9375747008324451	0.23701	0.07099	0.13125	N	AEFDBHCIJ	0.444459	0.50134	N	-0.850440972418295	0.12039	0.5844495	-0.917836272660365	0.11674	0.5961458	0.999999997607499	0.74766	0.72623	0.87236	0	0.541556	0.11502	0	0.594344	0.31042	0	0.530356	0.10902	0	.	.	4.7	0.615	0.16784	0.264000	0.18264	0.395000	0.17934	0.593000	0.32247	0.000000	0.06391	0.001000	0.17328	0.029000	0.12982	0.1441:0.4598:0.1406:0.2556	1.600	0.02511	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	0.02381	938.98	40	chr7	150340563	.	C	T	938.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.104e+00;DP=786;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=20.87;ReadPosRankSum=0.011;SOR=0.665	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:20,25:45:99:0|1:150340563_C_T:953,0,765:150340563	20	0	1	0
chr7	151187668	151187668	G	A	exonic	ASB10	.	nonsynonymous SNV	ASB10:NM_080871:exon1:c.C55T:p.P19S,	Glaucoma 1, open angle, F	.	381	1138	3	0	0	3	0.00131637	.	.	105849	not_provided|Glaucoma_1,_open_angle,_F	MedGen:C3661900|MedGen:C1863926,OMIM:603383	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.26	T	0.005	B	0.004	B	0.302	N	1.000	N	.	.	-0.18	T	-1.010	T	0.145	T	0.182	2.525	14.40	1.82	0.393	1.375	5.912	0.033	0.0273516071072	.	0.000599042	0.0010	0	0.0030	0	0	0.0014	0	0.0006	0.0002393	37	154602	rs104886462	0.0009	0.0009	0.0009	0.0009	0.0018	0.0009	0.0009	0.0010	0.0010	9.689e-05	0.0014	0	0	0.0017	0.0018	0.0010	0.0009	8.139e-05	0.0007	0.0007	0.0007	0.0006	0.0011	0.0006	0.0005	0.0008	0.0007	0.0001	0	0.0011	0	0	0.0013	0	0.0010	0.0005	0	0.105	0.29823	T	0.27	0.22359	T	0.005	0.12996	B	0.004	0.10090	B	0.301683	0.03958	N	1.444430	1	0.08975	N	.	.	.	-0.18	0.65747	T	-1.05	0.27463	N	0.184	0.19995	-1.0099	0.26949	T	0.145	0.46841	T	9	0.0068014264	0.00154	T	0.027352	0.50169	D	0.033	0.08068	.	.	0.181679512989	0.17746	.	.	.	.	.	.	.	.	.	.	-0.454548	0.01061	T	-0.466236	0.25921	T	0.00741413052126573	0.00085	T	0.510449	0.16283	T	.	.	.	.	.	.	.	.	-3.65	0.18582	T	.	.	0.092	0.13737	B	.	.	0.969666	0.13466	9.976	0.99599535577903064	0.74101	0.06696	0.12716	N	AEFDBI	0.081675	0.16529	N	-0.800561013381361	0.13297	0.6539897	-0.847404612047775	0.13349	0.6920643	0.992498677403257	0.32860	0.497415	0.19182	0	0.547309	0.14657	0	0.578056	0.29568	0	0.542086	0.14980	0	.	.	4.63	1.82	0.24209	0.953000	0.28759	0.748000	0.21214	0.676000	0.76740	0.001000	0.13787	0.009000	0.19889	0.033000	0.13494	0.329:0.0:0.671:0.0	5.912	0.18273	906	0.23090	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	2203.11	36	chr7	151187668	.	G	A	2203.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=2.55;DP=846;ExcessHet=0.1072;FS=0.000;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=13.60;ReadPosRankSum=-7.660e-01;SOR=0.690	GT:AD:DP:GQ:PL	0/1:33,31:64:99:938,0,877	19	0	2	0
chr7	151197892	151197892	C	T	exonic	IQCA1L	.	nonsynonymous SNV	IQCA1L:NM_001304419:exon7:c.G938A:p.R313Q,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.68e-05	2	26028	rs560799870	0.0002	0.0001	0.0002	0.0002	0.0008	0.0002	0.0002	0.0002	0.0002	0	0.0001	0	0	0	0.0008	0.0003	0.0003	0	0.0001	0.0001	0.0001	9.421e-05	0.0002	7.094e-05	5.75e-05	0.0001	0.0001	2.416e-05	0	0	0	0	0	0	0.0002	0	0.0002	.	.	.	0.053	0.47336	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.092	0.07125	.	.	.	.	.	.	.	0.046534985	0.03856	T	.	.	.	.	.	.	.	0.149567049428	0.14543	0.1894442927641504	0.18862	.	.	.	.	.	0.026272	0.19479	T	-0.322309	0.06711	T	-0.700751	0.05784	T	.	.	.	0.193581	0.02086	T	0.027315894	0.01907	0.067590825	0.14004	0.027315894	0.01906	0.067590825	0.14004	-5.102	0.37929	T	.	.	0.086	0.10739	B	.	.	0.767557	0.11374	7.989	0.64949739552921271	0.07635	0.05586	0.11488	N	AEFDBI	.	.	.	.	.	.	.	.	.	0.0709824350719956	0.15550	0.06567	0.01388	0	0.059962	0.00310	0	0.060301	0.00762	0	0.075334	0.01956	0	0.0973319	0.21781	4.81	1.51	0.22094	-1.591000	0.02204	-1.439000	0.05437	-1.714000	0.00739	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.6188:0.0:0.3812	5.707	0.17186	906	0.23090	.	.	.	.	.	.	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	1239.98	35	chr7	151197892	.	C	T	1239.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.550;DP=804;ExcessHet=0.0000;FS=1.680;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.92;ReadPosRankSum=0.594;SOR=0.524	GT:AD:DP:GQ:PL	0/1:47,49:96:99:1254,0,1144	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	0/1:253,75:328:99:1020,0,9241	4	0	17	0
chr7	152248171	152248171	G	A	exonic	KMT2C	.	stopgain	KMT2C:NM_170606:exon14:c.C2263T:p.Q755X,	.	.	418	977	127	0	0	127	0.0610284	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	.	.	.	.	0.507	N	1.000	N	.	.	.	.	.	.	.	.	.	6.978	38	2.44	0.630	0.436	1.678	.	.	.	.	0.0416	0.1069	0.0224	0.0563	0.0442	0.0281	0.0509	0.0646	0.0003458	9	26028	rs201234598	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.507052	0.05125	N	1.373010	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.772	0.76946	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.207808	0.74625	D	0.0607255	0.74294	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;Recessive	.;High	6.010711	0.94333	34	0.99557216609082289	0.71521	0.06104	0.12080	N	AEFGBI	0.041531	0.06327	N	0.101422309534251	0.46529	2.891879	-0.202886129060462	0.31431	1.778824	0.384391544153175	0.19989	0.706548	0.73137	0	0.724815	0.89359	0	0.608884	0.39905	0	0.635551	0.53088	0	.	.	5.53	2.44	0.28875	0.459000	0.21619	2.861000	0.35203	0.676000	0.76740	0.094000	0.22667	0.999000	0.35428	0.188000	0.21541	0.1392:0.2962:0.2939:0.2707	1.678	0.02655	940	0.13648	.;.	.	.	.	.	.	Uncertain significance	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.125	797.32	165	chr7	152248171	.	G	A	797.32	.	AC=5;AF=0.125;AN=40;BaseQRankSum=5.98;DP=2497;ExcessHet=1.1607;FS=41.174;InbreedingCoeff=-0.1528;MLEAC=5;MLEAF=0.125;MQ=48.99;MQRankSum=-6.374e+00;QD=0.93;ReadPosRankSum=0.070;SOR=8.357	GT:AD:DP:GQ:PL	0/1:140,12:152:22:22,0,4409	15	0	5	1
chr7	154969059	154969059	T	C	exonic	PAXIP1	.	nonsynonymous SNV	PAXIP1:NM_007349:exon7:c.A1142G:p.H381R,	.	.	419	1094	7	2	0	11	0.00500227	.	.	2678938	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.44	T	0.998	D	0.876	P	0.001	U	0.673	D	0.895	L	1.03	T	-0.861	T	0.133	T	0.285	1.152	9.691	4.2	0.857	2.924	12.486	0.054	0.00759713319504	.	.	0.0001	0	0	0	0	0	0	0.0007	4.53e-05	7	154602	rs772247568	4.74e-05	5.336e-05	3.573e-05	5.955e-05	0.0010	3.81e-05	3.472e-05	0.0004	0.0003	0	5.955e-05	0	0	0	0.0010	1.507e-05	0.0001	0.0005	2.626e-05	2.625e-05	0	5.369e-05	0.0006	8.14e-06	5.14e-06	0.0002	8.989e-05	0	0	0	0	0	0	0	1.47e-05	0	0.0006	0.112	0.28900	T	0.142	0.33330	T	0.907	0.50062	P	0.276	0.40142	B	0.000859	0.41440	U	0.100459	0.672558	0.33156	D	2.095	0.58118	M	1.03	0.40469	T	-2.97	0.61865	D	0.493	0.53006	-0.8607	0.51213	T	0.133	0.44544	T	10	0.17956463	0.33097	T	0.007597	0.20166	T	0.054	0.15330	0.216	0.13643	0.472611402724	0.46890	0.17942214701278858	0.17861	0.211083843637	0.23619	0.479331880808	0.35965	T	0.427868	0.77720	T	-0.385794	0.02862	T	-0.434458	0.29431	T	0.122719976915623	0.14694	T	0.50295	0.15803	T	0.11902484	0.28033	0.13993303	0.33371	0.11902484	0.28033	0.13993303	0.33370	-3.624	0.18204	T	.	.	0.169	0.37140	B	.;.	.;.	2.574727	0.33367	19.32	0.9173956141637164	0.21037	0.92265	0.55315	D	AEFBI	0.240441	0.36223	N	0.0352313648512142	0.43463	2.638797	0.0701974879351378	0.43058	2.615523	0.731593152916455	0.23054	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	5.37	4.2	0.48814	3.040000	0.49489	4.136000	0.42059	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.705000	0.34296	0.0:0.0:0.1398:0.8602	12.486	0.55218	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	0	0	0	0	0.02381	1308.98	43	chr7	154969059	.	T	C	1308.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.325e+00;DP=907;ExcessHet=0.0000;FS=3.422;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.28;ReadPosRankSum=0.470;SOR=0.445	GT:AD:DP:GQ:PL	0/1:57,59:116:99:1323,0,1442	20	0	1	0
chr7	158656267	158656267	G	A	exonic	NCAPG2	.	nonsynonymous SNV	NCAPG2:NM_001281933:exon19:c.C2381T:p.T794M	.	.	428	1093	1	0	0	1	0.000457247	.	.	722423	NCAPG2-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.12	T	0.334	B	0.078	B	0.581	N	1.000	N	0.895	L	0.96	T	-1.056	T	0.019	T	0.29	0.032	4.182	-1.35	-0.599	1.172	7.095	0.068	.	0.0053	0.00479233	0.0018	0.0190	0.0010	0	0	0.0003	0	0	0.0017335	268	154602	rs10248318	0.0007	0.0007	0.0007	0.0006	0.0201	0.0006	0.0006	0.0188	0.0183	0.0201	0.0015	0	2.519e-05	1.872e-05	0.0038	0.0001	0.0015	5.799e-05	0.0057	0.0057	0.0059	0.0054	0.0194	0.0053	0.0052	0.0183	0.0178	0.0194	0	0.0022	0	0	0	0	0.0002	0.0038	0.0002	0.167	0.23541	T	0.183	0.29639	T	0.208	0.29916	B	0.051	0.25434	B	0.580765	0.05534	N	1.173110	1	0.08975	N	0.635	0.15989	N	0.96	0.42888	T	-1.61	0.38734	N	0.044	0.01740	-1.0557	0.12855	T	0.019	0.07986	T	10	0.00413993	0.00082	T	.	.	.	0.095	0.27398	.	.	0.492909346147	0.48925	0.07528846254745464	0.07464	0.414482418027	0.42127	0.283472299576	0.07981	T	0.116428	0.43577	T	-0.537685	0.00346	T	-0.527538	0.19532	T	0.00407313909980977	0.00043	T	0.738826	0.35731	T	0.013682333	0.00066	0.031684697	0.01792	0.013682333	0.00066	0.031684697	0.01792	-5.391	0.41006	T	.	.	0.066	0.02733	B	.;.;.	.;.;.	1.096171	0.14803	11.34	0.86911766595511697	0.16858	0.23496	0.22095	N	ALL	0.082430	0.16690	N	-1.05018248368967	0.07584	0.3527971	-1.09791633940763	0.07741	0.3777509	0.999999999573013	0.74766	0.730579	0.87903	0	0.749866	0.99406	0	0.724815	0.87919	0	0.711	0.71501	0	.	.	6.07	-1.35	0.08638	1.225000	0.32154	0.620000	0.20121	-0.137000	0.12594	0.002000	0.15269	0.000000	0.08366	0.018000	0.11154	0.4513:0.1144:0.4342:0.0	7.095	0.24480	856	0.34373	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	995.98	33	chr7	158656267	.	G	A	995.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.54;DP=761;ExcessHet=0.0000;FS=0.967;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.10;ReadPosRankSum=-1.611e+00;SOR=0.501	GT:AD:DP:GQ:PL	0/1:41,35:76:99:1010,0,1011	20	0	1	0
chr8	7333413	7333413	G	A	exonic	USP17L1;USP17L3	.	nonsynonymous SNV	USP17L3:NM_001256871:exon1:c.G1027A:p.E343K	.	.	433	1061	21	7	0	35	0.0162262	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00319489	0.0073	0.0029	0.0049	0	0.0132	0.0077	0.0163	0.0100	0.0060801	940	154602	rs117479685	0.0075	0.0074	0.0074	0.0076	0.0120	0.0074	0.0073	0.0110	0.0107	0.0021	0.0047	0.0108	0	0.0151	0.0120	0.0071	0.0081	0.0116	0.0065	0.0065	0.0062	0.0067	0.0121	0.0061	0.0060	0.0096	0.0087	0.0024	0	0.0045	0.0102	0.0002	0.0137	0.0071	0.0073	0.0086	0.0121	.	.	.	0.026	0.55759	D	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.015	0.05111	N	.	.	.	.	.	.	0.163	0.17140	.	.	.	.	.	.	.	0.0043545067	0.00088	T	.	.	.	.	.	.	.	0.0884992946249	0.08302	0.03157667906160756	0.03106	.	.	0.515870451927	0.41046	T	0.005528	0.04982	T	-0.491117	0.00641	T	-0.470271	0.25488	T	.	.	.	0.927707	0.73352	D	0.078882866	0.17991	0.124453545	0.29997	0.078882866	0.17991	0.124453545	0.29996	-4.207	0.26853	T	.	.	0.100	0.17275	B	.	.	1.316169	0.17197	13.02	0.34094756146361083	0.02067	0.00132	0.00814	N	AEFI	.	.	.	.	.	.	.	.	.	1.3125003058538E-6	0.01202	0.061011	0.01085	0	0.063388	0.01293	0	0.063197	0.01477	0	0.057018	0.00518	0	0.0841919	0.19216	0.472	-0.943	0.09866	0.188000	0.16826	-0.128000	0.11649	0.304000	0.19002	0.001000	0.13787	0.000000	0.08366	0.003000	0.05239	.	.	.	994	0.00715	Peptidase C19, ubiquitin carboxyl-terminal hydrolase|Ubiquitin specific protease domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	6822.12	36	chr8	7333413	.	G	A	6822.12	.	AC=2;AF=0.048;AN=42;BaseQRankSum=2.25;DP=1208;ExcessHet=0.1072;FS=1.095;InbreedingCoeff=-0.0504;MLEAC=2;MLEAF=0.048;MQ=57.88;MQRankSum=2.61;QD=12.80;ReadPosRankSum=1.99;SOR=0.797	GT:AD:DP:GQ:PL	0/1:136,113:249:99:3126,0,3702	19	0	2	0
chr8	8377353	8377364	GCCGCTGCCGCT	-	exonic	PRAG1	.	nonframeshift deletion	PRAG1:NM_001080826:exon3:c.1045_1056del:p.S349_L1405delinsASSPFVPHLESDYCSLMKEPAPEKQQDPGCPGVTPSRCLGLTGEPQPPAHPREATQPEPIYAESTKRKKAAPVPSKSQAKIEHAAAAQGQGQVCTGNAWAQKAASGWGRDSPDPTPQVSATITVMAAHPEEDHRTIYLSSPDSAVGVQWPRGPVSQNSEVGEEETSAGQGLSSRESHAHSASESKPKERPAIPPKLSKSSPVGSPVSPSAGGPPVSPLADLSDGSSGGSSIGPQPPSQGPADPAPSCRTNGVAISDPSRCPQPAASSASEQRRPRFQAGTWSRQCRIEEEEEVEQELLSHSWGRETKNGPTDHSNSTTWHRLHPTDGSSGQNSKVGTGMSKSASFAFEFPKDRSGIETFSPPPPPPKSRHLLKMNKSSSDLEKVSQGSAESLSPSFRGVHVSFTTGSTDSLASDSRTCSDGGPSSELAHSPTNSGKKLFAPVPFPSGSTEDVSPSGPQQPPPLPQKKIVSRAASSPDGFFWTQGSPKPGTASPKLNLSHSETNVHDESHFSYSLSPGNRHHPVFSSSDPLEKAFKGSGHWLPAAGLAGNRGGCGSPGLQCKGAPSASSSQLSVSSQASTGSTQLQLHGLLSNISSKEGTYAKLGGLYTQSLARLVAKCEDLFMGGQKKELHFNENNWSLFKLTCNKPCCDSGDAIYYCATCSEDPGSTYAVKICKAPEPKTVSYCSPSVPVHFNIQQDCGHFVASVPSSMLSSPDAPKDPVPALPTHPPAQEQDCVVVITREVPHQTASDFVRDSAASHQAEPEAYERRVCFLLLQLCNGLEHLKEHGIIHRDLCLENLLLVHCTLQAGPGPAPAPAPAPAPAAAAPPCSSAAPPAGGTLSPAAGPASPEGPREKQLPRLIISNFLKAKQKPGGTPNLQQKKSQARLAPEIVSASQYRKFDEFQTGILIYELLHQPNPFEVRAQLRERDYRQEDLPPLPALSLYSPGLQQLAHLLLEADPIKRIRIGEAKRVLQCLLWGPRRELVQQPGTSEEALCGTLHNWIDMKRALMMMKFAEKAVDRRRGVELEDWLCCQYLASAEPGALLQSLKLLQLL*	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001537	4	26028	rs1275152506	0.0002	0.0002	0.0003	0.0002	0.0066	0.0002	0.0002	0.0058	0.0056	0.0066	0.0003	0	7.61e-05	0	0	3.646e-05	0.0005	0.0001	0.0017	0.0017	0.0017	0.0017	0.0059	0.0015	0.0015	0.0053	0.0050	0.0059	0	0.0004	0	0	9.557e-05	0	7.393e-05	0.0005	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.381	27670.54	87	chr8	8377352	.	CGCCGCTGCCGCT	C,CGCCGCT	27670.54	.	AC=1,15;AF=0.024,0.357;AN=42;BaseQRankSum=0.016;DP=1905;ExcessHet=4.5793;FS=0.000;InbreedingCoeff=-0.2115;MLEAC=1,15;MLEAF=0.024,0.357;MQ=60.00;MQRankSum=0.00;QD=22.31;ReadPosRankSum=0.294;SOR=0.704	GT:AD:DP:GQ:PL	0/2:38,0,49:87:99:1944,2058,3648,0,1590,1442	7	0	1	0
chr8	8377359	8377364	GCCGCT	-	exonic	PRAG1	.	nonframeshift deletion	PRAG1:NM_001080826:exon3:c.1045_1050del:p.S351_L1405delinsASSPFVPHLESDYCSLMKEPAPEKQQDPGCPGVTPSRCLGLTGEPQPPAHPREATQPEPIYAESTKRKKAAPVPSKSQAKIEHAAAAQGQGQVCTGNAWAQKAASGWGRDSPDPTPQVSATITVMAAHPEEDHRTIYLSSPDSAVGVQWPRGPVSQNSEVGEEETSAGQGLSSRESHAHSASESKPKERPAIPPKLSKSSPVGSPVSPSAGGPPVSPLADLSDGSSGGSSIGPQPPSQGPADPAPSCRTNGVAISDPSRCPQPAASSASEQRRPRFQAGTWSRQCRIEEEEEVEQELLSHSWGRETKNGPTDHSNSTTWHRLHPTDGSSGQNSKVGTGMSKSASFAFEFPKDRSGIETFSPPPPPPKSRHLLKMNKSSSDLEKVSQGSAESLSPSFRGVHVSFTTGSTDSLASDSRTCSDGGPSSELAHSPTNSGKKLFAPVPFPSGSTEDVSPSGPQQPPPLPQKKIVSRAASSPDGFFWTQGSPKPGTASPKLNLSHSETNVHDESHFSYSLSPGNRHHPVFSSSDPLEKAFKGSGHWLPAAGLAGNRGGCGSPGLQCKGAPSASSSQLSVSSQASTGSTQLQLHGLLSNISSKEGTYAKLGGLYTQSLARLVAKCEDLFMGGQKKELHFNENNWSLFKLTCNKPCCDSGDAIYYCATCSEDPGSTYAVKICKAPEPKTVSYCSPSVPVHFNIQQDCGHFVASVPSSMLSSPDAPKDPVPALPTHPPAQEQDCVVVITREVPHQTASDFVRDSAASHQAEPEAYERRVCFLLLQLCNGLEHLKEHGIIHRDLCLENLLLVHCTLQAGPGPAPAPAPAPAPAAAAPPCSSAAPPAGGTLSPAAGPASPEGPREKQLPRLIISNFLKAKQKPGGTPNLQQKKSQARLAPEIVSASQYRKFDEFQTGILIYELLHQPNPFEVRAQLRERDYRQEDLPPLPALSLYSPGLQQLAHLLLEADPIKRIRIGEAKRVLQCLLWGPRRELVQQPGTSEEALCGTLHNWIDMKRALMMMKFAEKAVDRRRGVELEDWLCCQYLASAEPGALLQSLKLLQLL*	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0007	0.0072	0.0009	0.0003	0.0003	5.986e-05	0.0019	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.381	27670.54	87	chr8	8377352	.	CGCCGCTGCCGCT	C,CGCCGCT	27670.54	.	AC=1,15;AF=0.024,0.357;AN=42;BaseQRankSum=0.016;DP=1905;ExcessHet=4.5793;FS=0.000;InbreedingCoeff=-0.2115;MLEAC=1,15;MLEAF=0.024,0.357;MQ=60.00;MQRankSum=0.00;QD=22.31;ReadPosRankSum=0.294;SOR=0.704	GT:AD:DP:GQ:PL	0/2:38,0,49:87:99:1944,2058,3648,0,1590,1442	7	0	1	0
chr8	10726166	10726166	C	T	exonic	SOX7	.	nonsynonymous SNV	SOX7:NM_031439:exon2:c.G739A:p.A247T,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.61	T	0.14	B	0.01	B	0.268	N	0.605	N	0.65	N	-1.21	T	-0.865	T	0.202	T	0.057	0.725	7.855	-0.796	-0.069	0.209	9.582	0.097	0.100263945403	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1417374815	1.101e-05	1.094e-05	1.094e-05	1.108e-05	0.0002	6.52e-06	5.28e-06	6.55e-06	5.04e-06	0	0	0	0	0	0.0002	1.173e-05	0	2.376e-05	6.584e-06	6.57e-06	0	1.348e-05	1.472e-05	0	0	.	.	0	0	0	0	0	0	0	1.472e-05	0	0	0.592	0.10311	T	0.389	0.15554	T	0.006	0.13644	B	0.004	0.10090	B	0.268282	0.15178	N	0.656003	0.605207	0.30907	N	0.79	0.19579	N	-1.21	0.78645	T	-0.4	0.19297	N	0.023	0.00882	-0.8648	0.50915	T	0.202	0.55836	T	10	0.050373316	0.04761	T	0.100264	0.77244	D	0.097	0.27909	0.195	0.10705	0.660725266497	0.65788	0.21854889211614612	0.21770	0.151573696835	0.17104	0.466972649097	0.34265	T	0.052013	0.29042	T	-0.213475	0.18892	T	-0.544419	0.17865	T	0.121018186211586	0.14529	T	.	.	.	0.017927265	0.00315	0.044225063	0.05683	0.017927265	0.00315	0.044225063	0.05683	-3.658	0.18700	T	.	.	0.062	0.01215	B	.;.	.;.	0.792616	0.11628	8.217	0.91419036856322422	0.20687	0.14195	0.18273	N	AEFDBCI	0.090524	0.18343	N	-1.21211985890473	0.04823	0.2185025	-1.18241903628792	0.06202	0.2978517	0.999944909914253	0.47345	0.545045	0.22601	0	0.59043	0.45803	0	0.576033	0.28219	0	0.591603	0.36755	0	.	.	5.05	-0.796	0.10361	0.215000	0.17352	0.165000	0.15451	-1.190000	0.01375	0.035000	0.20724	0.144000	0.23118	0.031000	0.13245	0.0:0.4171:0.0:0.5829	9.582	0.38658	766	0.49742	.;.	.	.	.	.	.	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	1466.98	64	chr8	10726166	.	C	T	1466.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.97;DP=1429;ExcessHet=0.0000;FS=1.528;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.58;ReadPosRankSum=-4.600e-02;SOR=0.859	GT:AD:DP:GQ:PL	0/1:56,52:108:99:1481,0,1407	20	0	1	0
chr8	10726544	10726544	G	T	exonic	SOX7	.	nonsynonymous SNV	SOX7:NM_031439:exon2:c.C361A:p.Q121K,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.12	T	0.998	D	0.954	D	0.000	D	1.000	D	2.395	M	-4.96	D	1.072	D	0.979	D	0.504	4.379	23.1	4.59	2.368	9.576	16.556	0.668	0.748468779946	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.849e-07	2.052e-06	0	1.377e-06	1.159e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.159e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.008	0.58626	D	0.019	0.60972	D	0.998	0.73220	D	0.954	0.69447	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.95	0.84923	M	-4.96	0.99447	D	-3.6	0.69357	D	0.48	0.54409	1.072	0.98650	D	0.979	0.99346	D	10	0.7134799	0.73195	D	0.748469	0.97992	D	0.668	0.87674	0.282	0.23801	0.976441314154	0.97618	0.4638150095076599	0.46300	0.246144050669	0.27147	0.800246238708	0.82000	T	0.481023	0.80976	T	0.277693	0.81118	D	0.16111	0.80874	D	0.990518748760223	0.80737	D	.	.	.	0.7092674	0.78567	0.49608183	0.70859	0.7092674	0.78568	0.49608183	0.70859	-11.282	0.81182	D	.	.	0.481	0.65872	A	.;.	.;.	4.950192	0.81771	27.6	0.99351555164134786	0.60615	0.98168	0.80190	D	AEFDBHCI	0.948269	0.95971	D	0.804243823803019	0.86369	8.863909	0.75886994778187	0.86819	9.012874	1.0	0.98316	0.730579	0.87903	0	0.59043	0.45803	0	0.440796	0.06475	0	0.648885	0.59868	0	.	.	4.59	4.59	0.56297	8.116000	0.89434	9.768000	0.81541	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:1.0:0.0	16.556	0.84334	772	0.48957	.;.	.	.	.	.	.	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	2012.98	64	chr8	10726544	.	G	T	2012.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.693e+00;DP=1483;ExcessHet=0.0000;FS=1.305;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.79;ReadPosRankSum=-1.350e+00;SOR=0.572	GT:AD:DP:GQ:PL	0/1:68,78:146:99:2027,0,1787	20	0	1	0
chr8	12186441	12186441	C	0	exonic	FAM86B1	.	.	.	.	.	506	833	66	2	115	185	0.0403226	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.119	1276.77	130	chr8	12186441	.	C	G,*	1276.77	.	AC=3,2;AF=0.071,0.048;AN=42;BaseQRankSum=-6.950e-01;DP=1097;ExcessHet=1.1607;FS=1.769;InbreedingCoeff=-0.1451;MLEAC=3,2;MLEAF=0.071,0.048;MQ=38.36;MQRankSum=-2.685e+00;QD=2.30;ReadPosRankSum=-9.370e-01;SOR=0.974	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:95,0,11:106:99:.:.:176,462,4442,0,3980,3947	16	0	3	0
chr8	12427804	12427804	C	A	exonic	FAM86B2	.	nonsynonymous SNV	FAM86B2:NM_001137610:exon7:c.G745T:p.V249L,	.	.	797	717	1	1	6	9	0.00208768	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.26	T	0.555	P	0.377	B	.	.	1.000	N	2.09	M	3.25	T	-1.014	T	0.102	T	0.132	2.006	12.67	0.858	0.071	2.994	7.620	0.113	0.00875245919152	.	.	0	0	0	0	0	0	0	0	3.84e-05	1	26028	rs199941264	0.0008	0.0015	0.0008	0.0007	0.0051	0.0007	0.0007	0.0030	0.0024	0.0032	0.0007	0.0007	0	8.246e-05	0.0051	0.0008	0.0009	0.0001	0.0012	0.0018	0.0013	0.0010	0.0027	0.0010	0.0009	0.0020	0.0018	0.0027	0	0.0002	0	0	0	0	0.0008	0.0015	0	0.189	0.21224	T	0.0	0.92824	D	0.555	0.38231	P	0.377	0.43762	B	.	.	.	.	0.999574	0.47641	D	2.475	0.71894	M	3.25	0.06762	T	-1.95	0.46673	N	0.408	0.45142	-1.0145	0.25497	T	0.102	0.37768	T	9	0.079677016	0.13462	T	0.008752	0.23099	T	0.158	0.41098	0.621	0.75576	0.0675242888579	0.06100	0.6614795219346827	0.66084	1.73176580355	0.90739	0.843754291534	0.88667	D	0.028576	0.62873	T	-0.125275	0.32265	T	-0.417726	0.31336	T	0.0345308889768642	0.02728	T	0.761924	0.41876	T	0.2186296	0.44376	0.17977858	0.40734	0.2186296	0.44376	0.17977858	0.40733	-10.047	0.74193	D	.	.	0.245	0.53793	B	.;.;.	.;.;.	3.091116	0.41625	21.4	0.94844695629382969	0.25639	0.67833	0.33577	D	AEFI	0.379790	0.46267	N	-0.864807060438823	0.11688	0.5653925	-0.991297410807701	0.09980	0.4997946	6.47254099809772E-6	0.01202	0.706298	0.61202	0	0.670034	0.63936	0	0.709663	0.75317	0	0.655142	0.61905	0	.	.	1.82	0.858	0.18168	3.024000	0.49358	4.819000	0.45103	-2.128000	0.00382	1.000000	0.71638	1.000000	0.68203	0.007000	0.07825	0.2554:0.7445:0.0:0.0	7.620	0.27349	976	0.04745	.;.;.	.	.	.	.	.	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	0.03333	98.86	14	chr8	12427804	.	C	A	98.86	.	AC=1;AF=0.033;AN=30;BaseQRankSum=1.93;DP=266;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0450;MLEAC=1;MLEAF=0.033;MQ=38.28;MQRankSum=-1.430e-01;QD=3.41;ReadPosRankSum=-1.239e+00;SOR=0.641	GT:AD:DP:GQ:PL	0/1:23,6:29:99:110,0,585	14	0	1	6
chr8	19458495	19458495	G	A	exonic	CSGALNACT1	.	nonsynonymous SNV	CSGALNACT1:NM_001354497:exon3:c.C782T:p.T261M	.	.	425	1081	16	0	0	16	0.00734619	.	.	1632183	not_provided|CSGALNACT1-related_disorder	MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.09	T	0.269	B	0.041	B	0.000	D	0.925	D	1.265	L	1.45	T	-1.069	T	0.060	T	0.615	2.513	14.36	5.61	2.813	4.831	11.975	0.080	0.00868110555287	0.0008	0.000998403	0.0012	0.0003	0.0023	0.0001	0	0.0013	0.0044	0.0013	0.0010931	169	154602	rs35868450	0.0009	0.0009	0.0008	0.0010	0.0160	0.0009	0.0009	0.0133	0.0123	0.0006	0.0021	0.0008	0.0001	0	0.0160	0.0008	0.0014	0.0016	0.0010	0.0010	0.0009	0.0010	0.0031	0.0009	0.0008	0.0024	0.0022	0.0002	0	0.0031	0	0.0004	0	0.0068	0.0010	0.0038	0.0023	0.144	0.25255	T	0.111	0.37173	T	0.269	0.31731	B	0.041	0.23986	B	0.000112	0.50451	D	0.222437	0.92503	0.36793	D	0.94	0.23649	L	1.45	0.32482	T	-0.76	0.21215	N	0.369	0.41162	-1.0690	0.09634	T	0.060	0.25018	T	10	0.0123773515	0.00266	T	0.008681	0.22927	T	0.080	0.23350	.	.	0.24896430686	0.24499	0.7726856929665791	0.77218	0.0227418883383	0.02294	0.382776319981	0.22650	T	0.043834	0.26626	T	-0.398649	0.02363	T	-0.341403	0.40186	T	0.0183832905140955	0.00556	T	0.738626	0.35686	T	0.019794885	0.00517	0.07137352	0.15278	0.022573026	0.00929	0.073309325	0.15917	-3.238	0.12951	T	0.07651529419031387	0.03503	0.083	0.09385	B	.;.;.	.;.;.	2.422986	0.31160	18.66	0.98845516168024439	0.47203	0.78148	0.38513	D	ALL	0.442781	0.50036	N	0.16144466096877	0.49356	3.13685	0.322003019011883	0.56837	3.847536	1.0	0.98316	0.553676	0.25195	0	0.588015	0.36545	0	0.547309	0.15389	0	0.466023	0.07079	0	.	.	5.61	5.61	0.85347	4.943000	0.63255	5.127000	0.47629	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.989000	0.64315	0.08:0.0:0.92:0.0	11.975	0.52376	911	0.21964	.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	925.98	33	chr8	19458495	.	G	A	925.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.514;DP=793;ExcessHet=0.0000;FS=7.546;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.87;ReadPosRankSum=1.85;SOR=1.411	GT:AD:DP:GQ:PL	0/1:41,37:78:99:940,0,1046	20	0	1	0
chr8	19458559	19458559	T	C	exonic	CSGALNACT1	.	nonsynonymous SNV	CSGALNACT1:NM_001354497:exon3:c.A718G:p.I240V	.	.	421	1085	16	0	0	16	0.0073193	.	.	1632185	CSGALNACT1-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.52	T	0.0	B	0.001	B	0.000	N	1.000	N	-1.735	N	2.47	T	-0.946	T	0.010	T	0.062	-0.296	2.589	2.85	0.136	1.502	9.675	0.036	0.0032492458473	0.0008	0.000798722	0.0012	0.0003	0.0023	0	0	0.0013	0.0044	0.0013	0.0010673	165	154602	rs151311119	0.0009	0.0009	0.0008	0.0010	0.0160	0.0009	0.0009	0.0133	0.0123	0.0006	0.0020	0.0008	0	0	0.0160	0.0008	0.0015	0.0016	0.0010	0.0010	0.0009	0.0010	0.0031	0.0008	0.0008	0.0024	0.0022	0.0002	0	0.0031	0	0.0002	0	0.0068	0.0010	0.0038	0.0023	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.001	0.04355	B	0.000302	0.45977	N	0.221798	0.999999	0.08975	N	-2.035	0.00180	N	2.47	0.14783	T	0.46	0.03140	N	0.156	0.16447	-0.9463	0.41599	T	0.010	0.03856	T	10	0.006654799	0.00151	T	0.003249	0.07177	T	0.036	0.09122	.	.	0.0611884634855	0.05136	0.5848306877477701	0.58413	0.0166212975511	0.01604	0.28974956274	0.08886	T	0.027674	0.20215	T	-0.720118	0.00028	T	-0.803171	0.01824	T	0.00260617369483874	0.00027	T	0.372463	0.08834	T	0.022388741	0.00899	0.035233706	0.02738	0.01704412	0.00241	0.0329489	0.02109	-0.937	0.00932	T	0.0315102872758545	0.00105	0.058	0.00647	B	.;.;.	.;.;.	0.362446	0.07350	3.969	0.67984156756306735	0.08519	0.14777	0.18580	N	AEFDGBHCI	0.064896	0.12628	N	-1.00953537719508	0.08405	0.3939863	-0.785374313636984	0.14854	0.778274	0.99999999999833	0.74766	0.553676	0.25195	0	0.588015	0.36545	0	0.602189	0.34648	0	0.466023	0.07079	0	.	.	5.61	2.85	0.32333	1.210000	0.31975	2.184000	0.31153	-0.834000	0.02848	0.573000	0.27530	0.978000	0.30204	0.906000	0.44173	0.0:0.7189:0.0:0.2811	9.675	0.39196	911	0.21964	.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	654.98	33	chr8	19458559	.	T	C	654.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.547e+00;DP=806;ExcessHet=0.0000;FS=1.744;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=7.36;ReadPosRankSum=-1.639e+00;SOR=0.623	GT:AD:DP:GQ:PL	0/1:54,35:89:99:669,0,1367	20	0	1	0
chr8	22927629	22927629	G	T	exonic	PEBP4	.	nonsynonymous SNV	PEBP4:NM_001363233:exon2:c.C86A:p.P29Q	.	.	422	1099	1	0	0	1	0.000454752	.	.	2359649	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.3	T	0.638	P	0.162	B	0.000	N	1.000	N	0.55	N	1.58	T	-1.067	T	0.040	T	0.242	0.844	8.412	-2.57	-0.428	-1.556	4.543	0.051	0.00316812473726	0.0003	.	0.0003	0.0002	8.639e-05	0	0	0.0004	0.0011	0.0004	0.0002975	46	154602	rs202161701	0.0002	0.0002	0.0002	0.0002	0.0031	0.0002	0.0002	0.0020	0.0017	0	6.714e-05	0.0010	0	7.489e-05	0.0031	0.0002	0.0004	0.0002	0.0002	0.0002	0.0002	0.0002	0.0004	0.0001	0.0001	0.0002	0.0002	7.218e-05	0	0.0001	0.0003	0	9.416e-05	0	0.0004	0	0	0.488	0.37750	T	0.196	0.27943	T	0.638	0.40359	P	0.162	0.34839	B	0.000020	0.00348	N	4.861360	1	0.08975	N	1.39	0.34934	L	1.58	0.29085	T	-0.13	0.81755	N	0.201	0.22228	-1.0669	0.10108	T	0.040	0.17277	T	10	0.04541698	0.03610	T	0.003168	0.06936	T	0.051	0.14325	.	.	0.0482279557977	0.04254	0.502018448063356	0.50123	0.0177872479839	0.01741	0.195610702038	0.00341	T	0.001352	0.00824	T	-0.480264	0.00736	T	-0.617124	0.11412	T	0.00947618257961789	0.00122	T	0.309669	0.06003	T	0.027183503	0.01876	0.04295759	0.05234	0.027183503	0.01875	0.04295759	0.05234	-4.008	0.23923	T	.	.	0.081	0.36693	B	.;.	.;.	-1.701731	0.00194	0.003	0.4783220838292308	0.03942	0.02710	0.07363	N	AEFBI	0.121722	0.23653	N	-1.13482947902364	0.06033	0.2766741	-1.26192256751197	0.04956	0.2350681	0.525530775857871	0.21133	0.516011	0.20929	0	0.610034	0.51514	0	0.608075	0.38828	0	0.530356	0.10902	0	.	.	4.12	-2.57	0.05885	-1.441000	0.02516	-0.432000	0.09215	-2.840000	0.00175	0.000000	0.06391	0.003000	0.18671	0.000000	0.00833	0.5432:0.0:0.291:0.1657	4.543	0.11466	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	1209.98	33	chr8	22927629	.	G	T	1209.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.95;DP=1004;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.75;ReadPosRankSum=-4.680e-01;SOR=0.675	GT:AD:DP:GQ:PL	0/1:57,46:103:99:1224,0,1329	20	0	1	0
chr8	30858685	30858685	C	T	exonic	TEX15	.	nonsynonymous SNV	TEX15:NM_001350162:exon7:c.G833A:p.G278E,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000199681	8.87e-05	0	0	0	0	0	0	0.0001	1.29e-05	2	154602	rs565640383	2.896e-06	3.42e-06	2.858e-06	2.934e-06	1.272e-05	6.8e-07	4.6e-07	.	.	0	0	0	0	0	0	0	5.189e-05	1.272e-05	1.314e-05	1.313e-05	0	2.687e-05	0.0004	2.18e-06	8.2e-07	7.296e-05	3.031e-05	0	0	0	0	0	0	0	0	0	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.13843596	0.26328	T	.	.	.	.	.	.	.	.	.	0.07770486596473133	0.07706	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.562644	0.19782	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.205	0.43144	B	.;.	.;.	2.525325	0.32641	19.10	0.66800983339950248	0.08165	0.75365	0.36897	D	AEFI	.	.	.	.	.	.	.	.	.	0.176379645849164	0.17809	0.162113	0.03585	0	0.063388	0.01293	0	0.175069	0.04249	0	0.223356	0.04673	0	0.861014	0.52826	5.87	4.99	0.65942	0.723000	0.25609	3.323000	0.37562	-0.171000	0.11205	1.000000	0.71638	1.000000	0.68203	0.346000	0.25568	0.156:0.7652:0.0:0.0788	8.388	0.31671	722	0.55239	.;.	.	.	.	.	.	Uncertain significance	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	0	0	0.02381	1137.98	33	chr8	30858685	.	C	T	1137.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.621;DP=791;ExcessHet=0.0000;FS=0.756;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.84;ReadPosRankSum=1.16;SOR=0.841	GT:AD:DP:GQ:PL	0/1:58,47:105:99:1152,0,1536	20	0	1	0
chr8	47599051	47599051	G	A	exonic	SPIDR	.	nonsynonymous SNV	SPIDR:NM_001352945:exon6:c.G673A:p.D225N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	1.0	D	0.989	D	0.000	D	1.000	D	2.045	M	.	.	-0.434	T	0.353	T	0.182	4.366	23.0	5.31	2.649	5.355	16.247	0.135	0.00696829886773	.	.	1.776e-05	0	0	0	0	3.185e-05	0	0	1.29e-05	2	154602	rs765994774	4.108e-06	4.104e-06	2.724e-06	5.505e-06	5.398e-06	1.48e-06	9.7e-07	1.94e-06	1.28e-06	0	0	0	0	0	0	5.398e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.68238	D	0.0	0.92824	D	1.0	0.90584	D	0.989	0.78396	D	0.000175	0.48594	D	0.132072	0.994761	0.42407	D	2.215	0.62545	M	.	.	.	-2.93	0.61284	D	0.452	0.57946	-0.4345	0.70915	T	0.353	0.71658	T	9	0.32641536	0.49938	T	0.006968	0.18458	T	0.135	0.36572	0.217	0.13788	0.0884992946249	0.08302	0.35140128400574494	0.35054	0.227127933774	0.25266	.	.	.	0.213575	0.57493	T	-0.0665222	0.41882	T	-0.317845	0.42810	T	0.846289455890656	0.49848	D	0.89491	0.63503	D	0.24655692	0.47626	0.24587935	0.50085	0.24655692	0.47626	0.24587935	0.50084	-8.332	0.63311	D	.	.	0.248	0.49596	B	.;.;.	.;.;.	4.015690	0.59269	24.1	0.99899730385149188	0.97199	0.94641	0.61832	D	AEFDGBI	0.560032	0.56860	D	0.335592753684094	0.57983	3.968163	0.373056364541083	0.59908	4.17291	0.99999999878322	0.74766	0.736574	0.97449	0	0.698795	0.70079	0	0.732669	0.93749	0	0.714379	0.83352	0	.	.	5.31	5.31	0.75063	5.652000	0.67632	9.750000	0.81468	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.404000	0.26872	0.0:0.0:1.0:0.0	16.247	0.82272	637	0.64373	.;.;.	.	.	.	.	.	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	1467.98	33	chr8	47599051	.	G	A	1467.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.25;DP=810;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.23;ReadPosRankSum=-1.531e+00;SOR=0.693	GT:AD:DP:GQ:PL	0/1:62,58:120:99:1482,0,1559	20	0	1	0
chr8	47936498	47936498	G	A	exonic	PRKDC	.	nonsynonymous SNV	PRKDC:NM_001081640:exon12:c.C1133T:p.A378V	Immunodeficiency 26, with or without neurologic abnormalities, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	637294	Severe_combined_immunodeficiency_due_to_DNA-PKcs_deficiency|not_specified	MONDO:MONDO:0014423,MedGen:C4014833,OMIM:615966,Orphanet:317425|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.34	T	0.604	P	0.371	B	0.000	D	0.999	D	.	.	4.31	T	-0.725	T	0.272	T	0.204	3.984	20.4	5.73	2.698	9.322	19.900	0.111	0.0191933583896	.	.	1.657e-05	0	0	0	0	2.999e-05	0	0	1.29e-05	2	154602	rs760093098	4.105e-06	4.104e-06	2.723e-06	5.501e-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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.067	0.35918	T	0.088	0.40586	T	0.469	0.39417	P	0.282	0.43568	B	0.000172	0.48594	D	0.137041	0.998879	0.45601	D	.	.	.	4.31	0.66652	T	-1.69	0.40274	N	0.321	0.37197	-0.7253	0.59200	T	0.272	0.64391	T	9	0.2554245	0.42935	T	0.019193	0.41484	T	0.111	0.31313	0.383	0.40134	0.552363726464	0.54894	0.17926525361714812	0.17845	0.213851256772	0.23908	0.379690170288	0.22212	T	0.190995	0.54570	T	-0.0678373	0.41671	T	-0.319734	0.42604	T	0.678820013999939	0.39734	D	0.90061	0.65471	D	0.15634009	0.35285	0.16699564	0.38549	0.15634009	0.35285	0.16699564	0.38548	-3.326	0.14074	T	0.6276197664565571	0.69665	0.133	0.28778	B	.;.	.;.	4.154525	0.62344	24.4	0.99840789648593198	0.92143	0.99548	0.97318	D	AEFBI	0.870647	0.79170	D	0.367578246565765	0.59672	4.14877	0.466960395796334	0.65813	4.871495	0.999999999997208	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.73	5.73	0.89730	9.448000	0.96761	8.696000	0.78092	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.989000	0.64315	0.0:0.0:1.0:0.0	19.900	0.96983	542	0.72843	.;.	.	.	.	.	.	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	720.98	33	chr8	47936498	.	G	A	720.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.225e+00;DP=746;ExcessHet=0.0000;FS=1.119;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.63;ReadPosRankSum=-6.930e-01;SOR=0.473	GT:AD:DP:GQ:PL	0/1:34,28:62:99:735,0,1004	20	0	1	0
chr8	56441706	56441706	C	G	exonic	PENK	.	nonsynonymous SNV	PENK:NM_001135690:exon4:c.G370C:p.E124Q,	.	.	416	1099	7	0	0	7	0.0031746	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	0.921	P	0.556	P	0.001	N	1.000	D	1.495	L	2.22	T	-1.197	T	0.065	T	0.178	3.427	17.59	5.98	2.838	5.359	19.431	0.065	.	7.7e-05	0.00519169	0.0041	0.0003	0.0003	0.0001	0	2.997e-05	0.0022	0.0292	0.0035058	542	154602	rs147090338	0.0018	0.0018	0.0009	0.0027	0.0288	0.0017	0.0017	0.0279	0.0275	0.0001	2.236e-05	0	2.519e-05	0	0.0007	5.396e-06	0.0020	0.0288	0.0008	0.0008	0.0005	0.0011	0.0227	0.0007	0.0006	0.0192	0.0179	0.0001	0	0	0	0	0	0	4.416e-05	0.0005	0.0227	0.116	0.28395	T	0.06	0.45744	T	0.921	0.51088	P	0.556	0.49411	P	0.001206	0.39820	N	0.296062	0.633684	0.32813	D	2.205	0.62170	M	2.22	0.18248	T	-1.47	0.35991	N	0.208	0.28146	-1.1967	0.00176	T	0.065	0.26913	T	10	0.0038956702	0.00074	T	.	.	.	0.065	0.18881	.	.	0.564910210825	0.56154	0.22368707163992335	0.22283	0.100047662187	0.11309	0.361652821302	0.19626	T	0.164666	0.51021	T	-0.548827	0.00296	T	-0.539499	0.18346	T	0.0533750833274053	0.06083	T	0.845915	0.52533	T	0.09356657	0.21979	0.08328832	0.19076	0.09356657	0.21978	0.08328832	0.19076	-5.33	0.40239	T	.	.	0.136	0.30238	B	.;.	.;.	3.968572	0.58257	24.0	0.99719435837652937	0.81914	0.91605	0.53878	D	AEFDHCI	0.629825	0.61140	D	0.591217324865336	0.72626	5.835435	0.655746129543652	0.79038	6.998946	0.851082888106985	0.25046	0.653496	0.48692	0	0.61073	0.52368	0	0.596874	0.31795	0	0.542086	0.14980	0	.	.	5.98	5.98	0.97147	2.904000	0.48417	5.985000	0.52234	0.599000	0.40250	0.896000	0.31333	1.000000	0.68203	0.952000	0.50033	0.0:1.0:0.0:0.0	19.431	0.94764	749	0.51929	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	3676.98	33	chr8	56441706	.	C	G	3676.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.929;DP=973;ExcessHet=0.0000;FS=0.924;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.57;ReadPosRankSum=1.92;SOR=0.622	GT:AD:DP:GQ:PL	0/1:134,137:271:99:3691,0,3347	20	0	1	0
chr8	64581466	64581466	-	GCA	exonic	BHLHE22	.	nonframeshift insertion	BHLHE22:NM_152414:exon1:c.676_677insGCA:p.S234_K235insS,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1905	7512.79	45	chr8	64581463	.	GGCA	GGCAGCA,G	7512.79	.	AC=7,1;AF=0.167,0.024;AN=42;BaseQRankSum=-4.290e-01;DP=1093;ExcessHet=0.5418;FS=1.794;InbreedingCoeff=0.0735;MLEAC=6,1;MLEAF=0.143,0.024;MQ=60.00;MQRankSum=0.00;QD=16.48;ReadPosRankSum=0.762;SOR=0.827	GT:AD:DP:GQ:PL	0/1:24,25,0:49:99:872,0,849,945,924,1869	14	1	5	0
chr8	64581464	64581466	GCA	-	exonic	BHLHE22	.	nonframeshift deletion	BHLHE22:NM_152414:exon1:c.674_676del:p.S234del,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0196	.	0.0185	0.0275	0.0401	0.0357	0.0021	0.0202	0.0070	0.0168	0.0001537	4	26028	rs779312881	0.0007	0.0059	0.0007	0.0008	0.0023	0.0007	0.0007	0.0020	0.0019	0.0014	0.0011	0.0004	0.0014	0.0013	0.0010	0.0005	0.0008	0.0023	0.0005	0.0006	0.0005	0.0005	0.0011	0.0004	0.0004	0.0007	0.0005	0.0004	0	0.0011	0	0	0.0006	0.0040	0.0004	0.0011	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1905	7512.79	45	chr8	64581463	.	GGCA	GGCAGCA,G	7512.79	.	AC=7,1;AF=0.167,0.024;AN=42;BaseQRankSum=-4.290e-01;DP=1093;ExcessHet=0.5418;FS=1.794;InbreedingCoeff=0.0735;MLEAC=6,1;MLEAF=0.143,0.024;MQ=60.00;MQRankSum=0.00;QD=16.48;ReadPosRankSum=0.762;SOR=0.827	GT:AD:DP:GQ:PL	0/1:24,25,0:49:99:872,0,849,945,924,1869	14	1	5	0
chr8	67267206	67267206	T	G	exonic	ARFGEF1	.	nonsynonymous SNV	ARFGEF1:NM_006421:exon12:c.A1697C:p.Y566S,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.000	D	1.000	D	3.58	H	-0.14	T	0.359	D	0.556	D	0.978	4.406	23.3	5.64	2.151	7.963	15.858	0.827	0.185111105236	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.615	0.93875	H	-0.14	0.65006	T	-8.21	0.96839	D	0.903	0.90363	0.359	0.88479	D	0.556	0.83808	D	10	0.9076985	0.90135	D	0.185111	0.85792	D	0.827	0.94503	0.744	0.87570	0.87037615458	0.86911	0.9092638382302259	0.90900	2.66344963391	0.98472	0.932812094688	0.99139	D	0.543141	0.84394	D	0.399337	0.89876	D	0.335844	0.89748	D	0.999809205532074	0.99090	D	0.994967	0.98297	D	0.9542225	0.96695	0.9234184	0.96638	0.9542225	0.96696	0.9234184	0.96638	-14.814	0.95401	D	.	.	0.994	0.95244	P	.	.	4.277610	0.65129	24.8	0.99153331616312945	0.53875	0.99263	0.93634	D	AEBI	0.859364	0.77703	D	0.963041333664288	0.94489	12.79763	0.891701606307143	0.95200	13.402	0.999999722328493	0.74766	0.732398	0.92422	0	0.709663	0.81188	0	0.743671	0.96076	0	0.727631	0.95156	0	.	.	5.64	5.64	0.86480	7.941000	0.87167	.	.	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:0.0:1.0	15.858	0.78774	515	0.74782	Guanine nucleotide exchange factor, N-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	0.1818	460.15	39	chr8	67267206	.	T	G	460.15	.	AC=4;AF=0.182;AN=22;BaseQRankSum=-2.883e+00;DP=1743;ExcessHet=0.6776;FS=182.454;InbreedingCoeff=-0.2727;MLEAC=6;MLEAF=0.273;MQ=60.00;MQRankSum=0.00;QD=1.02;ReadPosRankSum=2.03;SOR=10.224	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:79,32:111:99:.:.:106,0,1262	7	0	4	10
chr8	70138290	70138290	C	T	exonic	NCOA2	.	nonsynonymous SNV	NCOA2:NM_001321711:exon14:c.G2864A:p.S955N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.15	T	0.001	B	0.003	B	0.002	N	1.000	N	2.005	M	4.76	T	-1.021	T	0.025	T	0.055	2.098	12.97	4.08	0.810	1.631	6.927	0.035	0.00512283783014	0.0003	0.000199681	0.0002	0.0024	0.0002	0	0	0	0	0	0.0001552	24	154602	rs201737764	7.05e-05	7.046e-05	7.899e-05	6.192e-05	0.0027	5.917e-05	5.526e-05	0.0022	0.0021	0.0027	0.0001	0	0	0	0	0	0.0001	0	0.0007	0.0007	0.0007	0.0007	0.0024	0.0006	0.0006	0.0020	0.0019	0.0024	0	0.0004	0	0	0	0	0	0.0019	0	0.202	0.20230	T	0.605	0.07816	T	0.001	0.07471	B	0.001	0.04355	B	0.001566	0.38612	N	0.314683	0.999551	0.20991	N	1.465	0.36909	L	4.76	0.01576	T	-0.86	0.23372	N	0.273	0.30914	-1.0212	0.23324	T	0.025	0.10509	T	10	0.011536628	0.00252	T	0.005123	0.13001	T	0.064	0.18567	.	.	0.250512400709	0.24649	0.22732295524306384	0.22647	0.114582706681	0.12926	0.588038861752	0.51217	T	0.110743	0.42568	T	-0.638732	0.00085	T	-0.694262	0.06145	T	0.0152911976177459	0.00338	T	0.794521	0.43681	T	0.11665585	0.27511	0.09289041	0.21915	0.11665585	0.27511	0.09289041	0.21914	-3.981	0.23518	T	.	.	0.093	0.13923	B	.	.	2.463591	0.31739	18.83	0.97016971968453436	0.32010	0.84790	0.43880	D	AEFBI	0.242373	0.36383	N	-0.118204821671362	0.36601	2.117773	0.0182913878669311	0.40565	2.422908	0.722775847521297	0.22952	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.655142	0.61905	0	.	.	5.88	4.08	0.46880	1.679000	0.37213	2.652000	0.33822	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.5915:0.2614:0.1471	6.927	0.23599	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	0	0	0	0	0.02381	835.98	39	chr8	70138290	.	C	T	835.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.630e-01;DP=795;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.07;ReadPosRankSum=1.05;SOR=0.788	GT:AD:DP:GQ:PL	0/1:48,35:83:99:850,0,1298	20	0	1	0
chr8	71354785	71354785	C	G	exonic	EYA1	.	nonsynonymous SNV	EYA1:NM_172058:exon2:c.G121C:p.E41Q	Anterior segment anomalies with or without cataract, Autosomal dominant;Branchiootic syndrome 1, Autosomal dominant;Branchiootorenal syndrome 1, with or without cataracts, Autosomal dominant	.	0	1520	2	0	0	2	0.000657462	.	.	244016	Renal_hypoplasia|Melnick-Fraser_syndrome	Human_Phenotype_Ontology:HP:0000089,Human_Phenotype_Ontology:HP:0001968,Human_Phenotype_Ontology:HP:0004741,Human_Phenotype_Ontology:HP:0008641,MONDO:MONDO:0019637,MedGen:C0266295,Orphanet:93101|MONDO:MONDO:0007029,MedGen:C0265234,OMIM:PS113650,Orphanet:107	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.51	T	0.999	D	0.956	D	0.000	D	1.000	D	0.345	N	-2.1	D	0.046	D	0.615	D	0.637	4.965	29.0	5.7	2.676	7.814	19.814	0.372	0.0482719784605	.	0.000199681	0.0005	0	8.639e-05	0	0	4.495e-05	0.0044	0.0030	0.0003816	59	154602	rs561111097	0.0002	0.0002	0.0001	0.0003	0.0024	0.0002	0.0002	0.0021	0.0020	0	6.714e-05	0	0	0	0.0005	4.77e-05	0.0002	0.0024	8.538e-05	8.531e-05	6.425e-05	0.0001	0.0017	4.955e-05	3.961e-05	0.0008	0.0006	0	0	6.536e-05	0	0	0	0	4.411e-05	0.0005	0.0017	0.094	0.31383	T	0.536	0.10173	T	0.999	0.77913	D	0.956	0.69739	D	0.000000	0.84330	D	0.000000	0.999984	0.81001	D	1.1	0.28011	L	-2.1	0.86146	D	-0.55	0.18248	N	0.648	0.70615	0.046	0.83162	D	0.615	0.86397	D	10	0.018843174	0.00414	T	0.048272	0.63300	D	0.372	0.69102	0.125	0.03095	0.631644232799	0.62863	0.6533393946082489	0.65269	0.825720942332	0.67392	0.706214010715	0.68044	T	0.340669	0.70967	T	-0.167163	0.25664	T	-0.0178206	0.69172	D	0.0841902930824591	0.10514	T	0.931007	0.74900	D	0.2017262	0.42194	0.20660093	0.44881	0.20045115	0.42020	0.22437347	0.47346	-2.643	0.06837	T	0.2115258044196134	0.28361	0.212	0.47116	B	.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.	4.983004	0.82549	27.8	0.99731630941359817	0.82833	0.99309	0.94295	D	AEFDBI	0.943031	0.94836	D	0.513439884930484	0.67885	5.141602	0.604325851436735	0.75253	6.27806	0.999999999999997	0.74766	0.554377	0.28877	0	0.563428	0.19063	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	5.7	5.7	0.88690	7.868000	0.85503	7.720000	0.67265	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:1.0:0.0:0.0	19.814	0.96556	757	0.50970	.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	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	1508.98	34	chr8	71354785	.	C	G	1508.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.050e+00;DP=810;ExcessHet=0.0000;FS=4.594;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.12;ReadPosRankSum=-2.960e-01;SOR=0.490	GT:AD:DP:GQ:PL	0/1:51,64:115:99:1523,0,1234	20	0	1	0
chr8	94836564	94836564	C	T	exonic	INTS8	.	nonsynonymous SNV	INTS8:NM_017864:exon7:c.C794T:p.S265F,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	D	0.545	P	0.351	B	0.000	D	0.842	D	-0.345	N	.	.	-0.808	T	0.109	T	0.462	2.816	15.38	5.76	2.727	5.883	19.948	0.122	0.00903548216274	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.143	0.25355	T	0.057	0.46406	T	0.32	0.32998	B	0.192	0.36449	B	0.000007	0.62929	D	0.148362	0.842433	0.35089	D	0.69	0.16971	N	.	.	.	-0.78	0.21644	N	0.468	0.50418	-0.8077	0.54689	T	0.109	0.39320	T	9	0.21193719	0.37638	T	0.009035	0.23774	T	0.184	0.45763	0.262	0.20631	0.043077524339	0.03247	0.23993426203904458	0.23907	0.448223445526	0.44658	0.435824006796	0.30006	T	0.041878	0.26000	T	0.00986505	0.53006	T	-0.223606	0.52388	T	0.78852242231369	0.45593	D	0.886111	0.61235	D	0.16472699	0.36699	0.14644372	0.34693	0.16472699	0.36698	0.14644372	0.34692	-6.445	0.49860	T	.	.	0.160	0.35435	B	.	.	3.493504	0.48838	22.7	0.98500401152548811	0.42216	0.96707	0.70511	D	AEFBI	0.714831	0.66718	D	0.136299403260501	0.48164	3.03219	0.337858985265805	0.57779	3.94505	0.999998773188217	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.727631	0.95156	0	.	.	5.76	5.76	0.90726	5.965000	0.70100	7.585000	0.61076	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:1.0:0.0:0.0	19.948	0.97191	424	0.81215	.	.	.	.	.	.	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	1534.98	36	chr8	94836564	.	C	T	1534.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.82;DP=771;ExcessHet=0.0000;FS=5.750;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=17.64;ReadPosRankSum=0.107;SOR=1.067	GT:AD:DP:GQ:PL	0/1:30,57:87:99:1549,0,613	20	0	1	0
chr8	97277493	97277493	C	T	exonic	TSPYL5	.	nonsynonymous SNV	TSPYL5:NM_033512:exon1:c.G352A:p.A118T,	.	.	423	1082	17	0	0	17	0.00779459	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.17	T	0.0	B	0.0	B	0.083	N	1.000	N	0.28	N	2.22	T	-1.022	T	0.016	T	0.006	0.871	8.533	-3.35	-0.639	-2.322	1.645	0.010	.	0.0090	0.00419329	0.0105	0.0017	0.0074	0	0.0050	0.0155	0.0069	0.0023	0.0080077	1238	154602	rs118032326	0.0091	0.0090	0.0093	0.0090	0.0103	0.0090	0.0089	0.0102	0.0101	0.0012	0.0074	0.0126	7.754e-05	0.0050	0.0103	0.0103	0.0084	0.0020	0.0068	0.0068	0.0073	0.0063	0.0112	0.0065	0.0063	0.0105	0.0103	0.0017	0	0.0082	0.0115	0.0002	0.0024	0.0068	0.0112	0.0052	0.0012	0.063	0.36709	T	0.272	0.22223	T	0.0	0.02946	B	0.0	0.01387	B	0.082796	0.02372	N	2.452570	1	0.08975	N	0.295	0.10161	N	2.22	0.18248	T	-0.84	0.22944	N	0.015	0.00181	-1.0218	0.23129	T	0.016	0.06377	T	10	0.0042589307	0.00085	T	.	.	.	0.010	0.01040	.	.	0.117191471859	0.11215	0.2116028374169913	0.21076	0.584851860191	0.54147	0.550163447857	0.45881	T	0.007836	0.07220	T	-0.750872	0.00017	T	-0.840321	0.01094	T	0.00133939462641741	0.00013	T	0.29917	0.05580	T	0.049962588	0.08952	0.05529974	0.09676	0.049962588	0.08951	0.05529974	0.09675	-4.877	0.35476	T	.	.	0.065	0.02012	B	.	.	-1.086094	0.00657	0.018	0.95154290121206819	0.26292	0.00709	0.03002	N	AEFDBCI	0.023849	0.01388	N	-1.59739009891767	0.01277	0.05560215	-1.6371663934395	0.01444	0.06529281	0.999999713553289	0.74766	0.65757	0.49021	0	0.587265	0.34161	0	0.619478	0.44681	0	0.627883	0.49187	0	.	.	4.16	-3.35	0.04620	-3.863000	0.00391	-5.666000	0.01637	-1.075000	0.01584	0.000000	0.06391	0.000000	0.08366	0.025000	0.12405	0.1614:0.3902:0.1656:0.2828	1.645	0.02593	777	0.48198	.	.	.	.	.	rs118032326	Likely benign	0	0	0	0	0	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	3243.11	50	chr8	97277493	.	C	T	3243.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.11;DP=1158;ExcessHet=0.1072;FS=1.560;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=13.13;ReadPosRankSum=0.184;SOR=0.572	GT:AD:DP:GQ:PL	0/1:64,69:133:99:1875,0,1584	19	0	2	0
chr8	104014565	104014565	G	A	exonic	RIMS2	.	nonsynonymous SNV	RIMS2:NM_001348501:exon15:c.G2480A:p.R827Q	.	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	1.0	D	0.997	D	.	.	1.000	D	1.32	L	2.27	T	-0.519	T	0.297	T	0.787	4.759	26.7	5.63	2.652	9.175	19.685	0.376	0.0455701775502	.	.	8.354e-06	0	0	0	0	1.51e-05	0	0	1.29e-05	2	154602	rs752574736	1.848e-05	1.915e-05	8.172e-06	2.889e-05	2.989e-05	1.266e-05	1.085e-05	1.461e-05	1.227e-05	2.989e-05	0	0	0	0	0	2.159e-05	3.315e-05	0	1.315e-05	1.314e-05	1.285e-05	1.346e-05	2.941e-05	2.19e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.941e-05	0	0	0.0	0.91255	D	0.022	0.92824	D	1.0	0.90584	D	0.996	0.84481	D	.	.	.	.	0.999986	0.58761	D	.	.	.	0.38	0.57575	T	-3.21	0.70793	D	0.774	0.78641	-0.5192	0.67944	T	0.297	0.66839	T	9	0.65121573	0.69614	D	0.04557	0.62042	D	0.376	0.69443	.	.	0.842765757162	0.84126	0.7287656776686123	0.72820	.	.	0.6451395154	0.59295	T	0.279988	0.66831	T	0.160048	0.70206	D	0.0557672	0.73963	D	0.937684428887407	0.60767	D	0.994226	0.98194	D	.	.	.	.	.	.	.	.	-12.166	0.85650	D	.	.	0.332	0.56825	B	.;.;.;.;.;.	.;.;.;.;.;.	5.488310	0.91455	32	0.99953993998528479	0.99963	0.98717	0.85956	D	AEFI	0.872259	0.79403	D	0.799852653974975	0.86095	8.777116	0.821190671424518	0.91225	10.78087	0.999999858273597	0.74766	0.706298	0.61202	0	0.573888	0.26702	0	0.709663	0.75317	0	0.620846	0.47308	0	.	.	5.63	5.63	0.86108	9.102000	0.93579	.	.	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:1.0:0.0	19.685	0.95971	833	0.38804	.;.;.;.;.;.	.	.	.	.	.	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	753.98	33	chr8	104014565	.	G	A	753.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.081;DP=758;ExcessHet=0.0000;FS=2.021;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.25;ReadPosRankSum=0.063;SOR=0.687	GT:AD:DP:GQ:PL	0/1:35,32:67:99:768,0,868	20	0	1	0
chr8	123966166	123966166	T	A	exonic	FER1L6	.	nonsynonymous SNV	FER1L6:NM_001039112:exon5:c.T260A:p.I87K,	.	.	419	1100	3	0	0	3	0.00136178	.	.	711276	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0	D	0.973	D	0.895	P	0.000	U	1.000	D	2.725	M	-0.85	T	0.098	D	0.420	T	0.832	3.827	19.43	5.32	2.146	7.970	15.587	0.831	.	0.0056	0.00519169	0.0062	0.0014	0.0034	0	0.0087	0.0084	0.0057	0.0047	0.0061319	948	154602	rs74808242	0.0078	0.0078	0.0078	0.0077	0.0087	0.0076	0.0076	0.0086	0.0085	0.0010	0.0047	0.0014	0	0.0096	0.0064	0.0087	0.0075	0.0044	0.0060	0.0060	0.0062	0.0057	0.0092	0.0057	0.0055	0.0086	0.0084	0.0016	0.0033	0.0047	0.0014	0	0.0092	0.0034	0.0092	0.0090	0.0042	0.0	0.91255	D	0.001	0.83351	D	0.973	0.57599	D	0.895	0.63489	P	0.000001	0.84330	U	0.000000	1	0.81001	D	2.995	0.85803	M	-0.85	0.74371	T	-6.06	0.89833	D	0.896	0.89577	0.098	0.84140	D	0.420	0.76570	T	10	0.017080188	0.00363	T	.	.	.	0.831	0.94653	.	.	0.456275507713	0.45249	0.8721033351985741	0.87176	0.678073064396	0.59862	0.581775724888	0.50335	T	0.340703	0.70969	T	-0.0465539	0.44969	T	0.17074	0.81456	D	0.0448405362824062	0.04573	T	0.943806	0.78763	D	0.81513256	0.84894	0.88644725	0.94016	0.81513256	0.84895	0.88644725	0.94016	-16.216	0.98066	D	.	.	0.990	0.93663	P	.	.	4.102046	0.61177	24.3	0.96394958242097073	0.29668	0.98376	0.82147	D	AEFGBI	0.910277	0.86797	D	0.640861003520806	0.75777	6.366572	0.549752364596124	0.71380	5.646081	0.999997441084026	0.74766	0.487112	0.14033	0	0.563428	0.19063	0	0.573888	0.23631	0	0.530356	0.10902	0	.	.	5.32	5.32	0.75377	7.991000	0.87898	7.733000	0.67792	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.500000	0.29017	0.0:0.0:0.0:1.0	15.587	0.76233	758	0.50837	C2 domain|C2 domain|C2 domain|Ferlin, second C2 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	2051.98	34	chr8	123966166	.	T	A	2051.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=4.55;DP=823;ExcessHet=0.0000;FS=5.350;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.66;ReadPosRankSum=-2.230e-01;SOR=1.157	GT:AD:DP:GQ:PL	0/1:65,66:131:99:2066,0,1873	20	0	1	0
chr8	124076283	124076283	G	A	exonic	FER1L6	.	nonsynonymous SNV	FER1L6:NM_001039112:exon32:c.G4178A:p.R1393Q,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	T	1.0	D	0.999	D	0.000	U	1.000	D	1.62	L	-0.65	T	-0.220	T	0.480	T	0.736	4.475	23.9	5.47	2.724	2.580	19.702	0.481	0.0459097760189	.	.	9.937e-05	0	8.639e-05	0	0	0.0001	0	0.0002	7.76e-05	12	154602	rs759130594	3.968e-05	3.967e-05	3.404e-05	4.538e-05	0.0003	3.113e-05	2.847e-05	0.0002	0.0002	0	8.945e-05	0	2.519e-05	0	0.0002	2.069e-05	6.625e-05	0.0003	5.258e-05	5.253e-05	5.14e-05	5.381e-05	7.351e-05	2.558e-05	1.83e-05	2.847e-05	1.858e-05	4.826e-05	0	6.546e-05	0	0	0	0	7.351e-05	0	0	0.007	0.59928	D	0.007	0.69154	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	U	0.000000	0.999867	0.50061	D	1.325	0.33218	L	-0.65	0.72237	T	-2.21	0.49684	N	0.284	0.32148	-0.2200	0.77151	T	0.480	0.80134	T	10	0.22297782	0.39064	T	0.04591	0.62205	D	0.481	0.77142	.	.	0.518752145996	0.51518	0.6695267360915926	0.66890	0.348880239613	0.36747	0.502783596516	0.39215	T	0.100945	0.40722	T	-0.0774787	0.40123	T	-0.0487453	0.67109	D	0.366254419088364	0.27652	T	0.963204	0.86318	D	0.42694876	0.62552	0.39291933	0.64025	0.42694876	0.62553	0.39291933	0.64025	-9.077	0.68191	D	.	.	0.092	0.13597	B	.	.	5.335774	0.89535	30	0.99955982957918199	0.99975	0.90640	0.51984	D	AEFGBI	0.493936	0.52994	N	0.597562829523905	0.73023	5.898732	0.601814469197109	0.75072	6.246172	0.461854708664312	0.20631	0.516011	0.20929	0	0.588764	0.42986	0	0.573888	0.23631	0	0.586402	0.36253	0	.	.	5.47	5.47	0.80345	2.691000	0.46677	9.870000	0.82121	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:1.0:0.0	19.702	0.96053	809	0.43032	C2 domain|C2 domain|C2 domain|Ferlin, fifth C2 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	1419.98	33	chr8	124076283	.	G	A	1419.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.29;DP=793;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.49;ReadPosRankSum=1.90;SOR=0.690	GT:AD:DP:GQ:PL	0/1:45,53:98:99:1434,0,915	20	0	1	0
chr8	139988739	139988739	C	T	exonic	TRAPPC9	.	nonsynonymous SNV	TRAPPC9:NM_001321646:exon18:c.G2770A:p.G924S	Mental retardation, autosomal recessive 13, Autosomal recessive	.	4	1463	53	2	0	57	0.0191083	.	.	136075	not_specified|Inborn_genetic_diseases|Intellectual_Disability,_Recessive|not_provided	MedGen:CN169374|MeSH:D030342,MedGen:C0950123|MedGen:CN239290|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.44	T	0.436	B	0.049	B	0.000	N	0.751	N	0.69	N	.	.	-1.052	T	0.021	T	0.252	2.273	13.56	3.29	0.446	1.679	9.085	0.042	.	0.0053	0.0129792	0.0146	0.0221	0.0076	0	0	0.0010	0.0052	0.0281	0.0026455	409	154602	rs114949291	0.0027	0.0026	0.0020	0.0035	0.0256	0.0027	0.0026	0.0247	0.0243	0.0237	0.0017	0.0035	2.798e-05	4.101e-05	0.0128	0.0005	0.0042	0.0256	0.0068	0.0068	0.0067	0.0068	0.0245	0.0064	0.0063	0.0209	0.0196	0.0185	0	0.0040	0.0035	0	0	0.0068	0.0007	0.0071	0.0245	0.209	0.19710	T	0.596	0.09588	T	0.005	0.35766	B	0.006	0.24832	B	0.000012	0.62929	N	0.114026	0.751216	0.29636	N	0.4	0.12274	N	.	.	.	-0.01	0.08033	N	0.295	0.33578	-1.0517	0.13926	T	0.021	0.08870	T	9	0.004834801	0.00103	T	.	.	.	0.042	0.11227	.	.	0.362758974969	0.35886	0.12049268189326275	0.11976	0.0848231563066	0.09583	0.331068098545	0.15096	T	0.025992	0.19327	T	-0.469245	0.00859	T	-0.42789	0.30176	T	0.0152808649358406	0.00338	T	0.811819	0.46320	T	0.03616323	0.04396	0.068118654	0.14183	0.038391553	0.05105	0.068118654	0.14182	-5.282	0.39764	T	.	.	0.091	0.13783	B	.;.;.;.	.;.;.;.	1.011054	0.13902	10.46	0.98729725598533269	0.45333	0.70043	0.34429	D	AEFDGBI	0.166247	0.29281	N	-0.0499159299800223	0.39605	2.33835	0.0126682155892763	0.40303	2.403049	0.999779627183075	0.42865	0.706298	0.61202	0	0.670034	0.63936	0	0.709663	0.75317	0	0.564101	0.26826	0	.	.	5.48	3.29	0.36801	1.772000	0.38182	-0.374000	0.09587	0.599000	0.40250	0.924000	0.32081	0.000000	0.08366	0.521000	0.29498	0.0:0.7858:0.0:0.2142	9.085	0.35738	971	0.05719	.;.;.;.	.	.	.	.	.	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	0.04762	5621.11	183	chr8	139988739	.	C	T	5621.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=3.29;DP=1279;ExcessHet=0.1072;FS=1.241;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=15.53;ReadPosRankSum=0.518;SOR=0.689	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:65,114:179:99:0|1:139988737_A_G:3390,0,1662:139988737	19	0	2	0
chr8	140450985	140450985	G	A	exonic	TRAPPC9	.	nonsynonymous SNV	TRAPPC9:NM_001160372:exon2:c.C389T:p.T130I	Mental retardation, autosomal recessive 13, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.18	T	0.01	B	0.028	B	0.000	D	0.663	N	1.24	L	.	.	-0.896	T	0.131	T	0.145	1.242	10.04	5.48	2.572	7.843	12.671	0.133	0.00923046875341	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.841e-07	6.84e-07	0	1.375e-06	8.993e-07	0	0	.	.	0	0	0	0	0	0	8.993e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.088	0.34982	T	0.172	0.33780	T	0.003	0.15093	B	0.014	0.17295	B	0.000067	0.52346	D	0.198508	0.662624	0.30435	N	1.195	0.30194	L	.	.	.	-2.78	0.61580	D	0.258	0.29544	-0.8961	0.48380	T	0.131	0.44088	T	9	0.25209612	0.42559	T	0.00923	0.24249	T	0.133	0.36157	0.383	0.40134	0.245101548738	0.24120	0.4503675943542394	0.44954	1.4675499815	0.86473	0.519958972931	0.41621	T	0.209965	0.57032	T	-0.106854	0.35290	T	-0.391265	0.34403	T	0.913737297058105	0.57011	D	0.858914	0.54988	D	0.12732348	0.29797	0.11748496	0.28361	0.12732348	0.29796	0.11748496	0.28360	-7.062	0.56196	T	.	.	0.281	0.55060	B	.;.;.;.	.;.;.;.	3.301483	0.45322	22.1	0.95319880758649889	0.26663	0.98437	0.82768	D	AEFBI	0.812645	0.73532	D	-0.0408768240303707	0.40012	2.368932	0.0924269019205283	0.44168	2.703723	0.99999999105208	0.74766	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.48	5.48	0.80675	8.053000	0.89235	11.681000	0.94222	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.050000	0.15192	0.0754:0.0:0.9246:0.0	12.671	0.56230	987	0.02648	.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2685.98	33	chr8	140450985	.	G	A	2685.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.09;DP=2510;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=17.44;ReadPosRankSum=-1.409e+00;SOR=0.697	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:80,74:154:99:0|1:140450975_A_G:2700,0,3016:140450975	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	1/1:0,49,0:49:99:2190,148,0,2190,148,2190	0	17	0	0
chr8	143920630	143920630	G	A	exonic	PLEC	.	nonsynonymous SNV	PLEC:NM_201378:exon32:c.C9149T:p.T3050I	Epidermolysis bullosa simplex with muscular dystrophy, Autosomal recessive;Epidermolysis bullosa simplex with pyloric atresia, Autosomal recessive;Epidermolysis bullosa simplex, Ogna type, Autosomal dominant;Muscular dystrophy, limb-girdle, type 2Q, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	1379464	Epidermolysis_bullosa_simplex,_Ogna_type|Epidermolysis_bullosa_simplex_5C,_with_pyloric_atresia|Epidermolysis_bullosa_simplex_5B,_with_muscular_dystrophy|Epidermolysis_bullosa_simplex_with_nail_dystrophy|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2Q	MONDO:MONDO:0007555,MedGen:C0432317,OMIM:131950,Orphanet:79401|MONDO:MONDO:0012807,MedGen:C2677349,OMIM:612138,Orphanet:158684|MONDO:MONDO:0009181,MedGen:C2931072,OMIM:226670,Orphanet:257|MONDO:MONDO:0014661,MedGen:C4225309,OMIM:616487|MONDO:MONDO:0013390,MedGen:C3150989,OMIM:613723,Orphanet:254361	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0	D	1.0	D	0.999	D	0.000	U	1.000	D	3.16	M	-1.51	D	0.691	D	0.727	D	0.593	1.648	11.47	4.06	1.964	6.542	15.401	0.784	0.415018517835	.	0.000199681	7.023e-05	0	0	0	0	1.605e-05	0	0.0004	5.82e-05	9	154602	rs530059869	3.851e-05	3.967e-05	9.585e-06	6.77e-05	0.0006	3.042e-05	2.734e-05	0.0005	0.0004	0	0	0	0	0	0	8.994e-07	4.973e-05	0.0006	1.313e-05	1.312e-05	1.285e-05	1.342e-05	0.0004	2.18e-06	8.2e-07	7.287e-05	3.028e-05	0	0	0	0	0	0	0	0	0	0.0004	0.001	0.78490	D	0.002	0.79402	D	1.0	0.90584	D	0.998	0.92359	D	0.000009	0.62929	U	0.000000	1	0.81001	D	3.395	0.91620	M	-1.51	0.81399	D	-2.53	0.55025	D	0.681	0.73465	0.691	0.93061	D	0.727	0.90662	D	10	0.8922744	0.88572	D	0.415019	0.93677	D	0.784	0.92827	0.831	0.94042	0.789346890761	0.78739	0.8640924490305784	0.86373	.	.	0.674980759621	0.63549	T	0.302425	0.67482	T	-0.0828607	0.39248	T	-0.0205409	0.68992	D	0.530970804045007	0.33770	D	0.980535	0.93361	D	0.66870475	0.76363	0.5371365	0.73252	0.66870475	0.76365	0.5371365	0.73252	-11.58	0.82745	D	0.5691606440469772	0.63644	0.795	0.77513	P	.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.	2.854176	0.37691	20.6	0.94394776994419216	0.24779	0.98035	0.79053	D	AEFDGBCI	0.791936	0.72038	D	0.696358304424907	0.79394	7.068306	0.569097074653533	0.72734	5.857097	0.999999999997141	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	4.06	4.06	0.46572	4.019000	0.56893	.	.	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.005000	0.06747	0.0:0.0:1.0:0.0	15.401	0.74562	970	0.06235	.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	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	3713.98	210	chr8	143920630	.	G	A	3713.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.350;DP=2337;ExcessHet=0.0000;FS=6.721;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.12;ReadPosRankSum=0.303;SOR=0.422	GT:AD:DP:GQ:PL	0/1:125,138:263:99:3728,0,3448	20	0	1	0
chr8	143950615	143950615	C	T	exonic	PLEC	.	nonsynonymous SNV	PLEC:NM_201380:exon1:c.G92A:p.R31Q,	Epidermolysis bullosa simplex with muscular dystrophy, Autosomal recessive;Epidermolysis bullosa simplex with pyloric atresia, Autosomal recessive;Epidermolysis bullosa simplex, Ogna type, Autosomal dominant;Muscular dystrophy, limb-girdle, type 2Q, Autosomal recessive	.	0	1517	4	1	0	6	0.00197368	.	.	441220	not_provided|not_specified	MedGen:C3661900|MedGen:CN169374	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.05	D	0.068	B	0.016	B	0.701	U	1.000	D	0	N	-0.99	T	-0.961	T	0.152	T	0.193	1.667	11.53	0.133	0.087	0.296	2.254	0.121	0.142756902032	0.0005	0.000199681	0.0012	0.0004	0.0013	0	0	0.0012	0.0049	0.0020	0.0006921	107	154602	rs200842821	0.0008	0.0008	0.0007	0.0008	0.0024	0.0007	0.0007	0.0017	0.0017	8.975e-05	0.0005	0.0058	0	0	0.0024	0.0006	0.0011	0.0020	0.0005	0.0005	0.0005	0.0006	0.0007	0.0004	0.0004	0.0006	0.0005	0.0001	0	0.0002	0.0055	0	0	0.0034	0.0007	0.0009	0.0006	0.046	0.40573	D	0.189	0.28575	T	0.068	0.23728	B	0.016	0.17743	B	0.700769	0.10096	U	0.775582	1	0.81001	D	0.11	0.08516	N	-0.99	0.75911	T	-0.58	0.17417	N	0.134	0.13055	-0.9608	0.39031	T	0.152	0.48084	T	10	0.008136094	0.00185	T	0.142757	0.82512	D	0.121	0.33580	.	.	0.382087116544	0.37822	0.46158072802116046	0.46076	.	.	0.531237483025	0.43209	T	0.060504	0.31403	T	-0.439081	0.01309	T	-0.4225	0.30788	T	0.0185790087778679	0.00573	T	0.791921	0.43319	T	0.06455693	0.13709	0.08955138	0.20949	0.08578492	0.19914	0.105275	0.25303	-2.577	0.06330	T	.	.	0.102	0.18080	B	.	.	2.100432	0.26722	17.22	0.94301372999683819	0.24612	0.07456	0.13473	N	AEFDGBHCI	0.100770	0.20255	N	-1.10727227871809	0.06512	0.300011	-1.08646534974655	0.07966	0.3896666	0.999999999572926	0.74766	0.542737	0.22433	0	0.546412	0.12157	0	0.584781	0.30282	0	0.638787	0.57140	0	.	.	4.9	0.133	0.14066	0.694000	0.25190	.	.	-0.896000	0.02358	0.276000	0.25103	0.999000	0.35428	0.449000	0.27873	0.3678:0.2747:0.2625:0.095	2.254	0.03803	970	0.06235	Plectin/S10, N-terminal	.	.	.	.	.	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	859.98	37	chr8	143950615	.	C	T	859.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.00;DP=833;ExcessHet=0.0000;FS=5.015;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=7.41;ReadPosRankSum=-9.040e-01;SOR=0.760	GT:AD:DP:GQ:PL	0/1:80,36:116:99:874,0,2007	20	0	1	0
chr8	144360232	144360232	C	T	exonic	SLC52A2	.	nonsynonymous SNV	SLC52A2:NM_001253815:exon3:c.C740T:p.S247F	Brown-Vialetto-Van Laere syndrome 2, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	1440091	Brown-Vialetto-van_Laere_syndrome_2|Inborn_genetic_diseases	MONDO:MONDO:0013867,MedGen:C3553538,OMIM:614707,Orphanet:572550,Orphanet:97229|MeSH:D030342,MedGen:C0950123	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.05	D	0.012	B	0.001	B	0.593	N	1.000	N	0	N	-0.73	T	-0.933	T	0.171	T	0.173	0.194	5.048	1.41	0.431	0.421	6.923	0.111	0.0528746305217	.	0.000199681	3.342e-05	0	8.673e-05	0	0	4.587e-05	0	0	3.23e-05	5	154602	rs538577149	1.301e-05	1.3e-05	1.09e-05	1.514e-05	2.236e-05	8.32e-06	6.71e-06	1.012e-05	8.35e-06	0	2.236e-05	0	0	0	0	1.619e-05	0	0	1.313e-05	1.312e-05	1.285e-05	1.343e-05	6.531e-05	2.18e-06	8.2e-07	.	.	0	0	6.531e-05	0	0	0	0	1.47e-05	0	0	0.047	0.48186	D	0.029	0.57587	D	0.012	0.16265	B	0.001	0.04355	B	0.592704	0.11034	N	0.798126	1	0.20103	N	0.975	0.24501	L	-0.95	0.75438	T	-1.9	0.49846	N	0.202	0.22357	-0.9326	0.43755	T	0.171	0.51293	T	10	0.040178776	0.02566	T	0.052875	0.65245	D	0.111	0.31313	0.173	0.07894	0.193865811164	0.18958	0.2757789564987619	0.27490	0.143104410359	0.16145	0.426124334335	0.28678	T	0.343689	0.71231	T	-0.222193	0.17695	T	-0.42649	0.30335	T	0.0397732558381112	0.03649	T	.	.	.	0.04180401	0.06225	0.056717265	0.10183	0.04180401	0.06224	0.056717265	0.10182	-6.929	0.53514	T	.	.	0.113	0.22644	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	1.355330	0.17637	13.28	0.95341252358103734	0.26713	0.19029	0.20499	N	AEFGBI	0.190838	0.31806	N	-1.05939653291289	0.07405	0.3438636	-1.00886880814528	0.09590	0.4779595	0.999919244742604	0.45857	0.67177	0.52595	0	0.702456	0.74545	0	0.723109	0.80598	0	0.711	0.71501	0	.	.	4.73	1.41	0.21461	-0.140000	0.10323	-0.013000	0.13032	-0.202000	0.08738	0.010000	0.18352	0.001000	0.17328	0.010000	0.09038	0.0:0.6058:0.0:0.3942	6.923	0.23577	940	0.13648	.;.;.;.;.;.;.	.	.	.	.	.	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	1777.98	33	chr8	144360232	.	C	T	1777.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.87;DP=882;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.88;ReadPosRankSum=1.15;SOR=0.650	GT:AD:DP:GQ:PL	0/1:73,65:138:99:1792,0,1846	20	0	1	0
chr8	144846102	144846102	C	T	exonic	ZNF7	.	nonsynonymous SNV	ZNF7:NM_001282796:exon5:c.C371T:p.S124L	.	.	418	1097	6	1	0	8	0.00363306	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.77	T	0.223	B	0.003	B	.	.	1.000	N	.	.	5.64	T	-0.943	T	0.001	T	0.076	0.674	7.609	-2.35	-1.224	-0.385	0.199	0.078	0.00344693913937	.	0.00179712	0.0032	0	0	0	0	0	0	0.0062	0.000401	62	154602	rs377425729	0.0005	0.0005	0.0003	0.0007	0.0077	0.0005	0.0004	0.0072	0.0070	0.0004	0	0	0	0	0	1.483e-05	0.0005	0.0077	0.0004	0.0004	0.0003	0.0005	0.0091	0.0003	0.0003	0.0070	0.0062	0.0004	0	0	0	0	0	0	0	0	0.0091	0.431	0.17069	T	0.155	0.31936	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	5.46	0.00959	T	-1.17	0.29933	N	0.21	0.27435	-0.9430	0.42137	T	0.001	0.00438	T	8	0.0038035214	0.00071	T	0.003447	0.07786	T	0.078	0.22779	0.252	0.19067	0.230578612272	0.22657	.	.	.	.	.	.	.	0.011662	0.10375	T	-0.708389	0.00033	T	-0.785482	0.02292	T	0.00609401466278623	0.00067	T	0.558744	0.19484	T	.	.	.	.	.	.	.	.	-3.337	0.14219	T	.	.	0.133	0.29860	B	.;.	.;.	0.032812	0.04515	1.215	0.86244381660808489	0.16407	0.00527	0.02446	N	AEFDBHI	0.028466	0.02513	N	-1.42668104618604	0.02406	0.1062217	-1.5882582289623	0.01727	0.07850494	0.999999613326658	0.74766	0.475973	0.10046	0	0.379588	0.06130	0	0.670488	0.60580	0	0.491896	0.07777	0	.	.	1.18	-2.35	0.06302	-0.108000	0.10827	-3.779000	0.02542	-0.278000	0.06506	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.2088:0.2408:0.2081:0.3423	0.199	0.00133	764	0.49969	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	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	3431.11	35	chr8	144846102	.	C	T	3431.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=3.46;DP=909;ExcessHet=0.1072;FS=6.023;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=14.00;ReadPosRankSum=1.25;SOR=0.644	GT:AD:DP:GQ:PL	0/1:60,60:120:99:1674,0,1335	19	0	2	0
chr9	13168391	13168391	G	C	exonic	MPDZ	.	nonsynonymous SNV	MPDZ:NM_001261406:exon22:c.C3229G:p.H1077D	Hydrocephalus, nonsyndromic, autosomal recessive 2, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.11	T	1.0	D	0.999	D	0.001	D	1.000	D	2.095	M	1.13	T	-0.663	T	0.264	T	0.899	4.537	24.5	5.36	2.656	9.420	19.459	0.509	0.0485137705426	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.023	0.53172	D	0.027	0.58089	D	1.0	0.90584	D	0.999	0.92359	D	0.000899	0.41231	D	0.000000	0.999987	0.54805	D	2.47	0.71715	M	1.13	0.38556	T	-4.12	0.75220	D	0.892	0.93252	-0.6632	0.62135	T	0.264	0.63523	T	10	0.79950947	0.79374	D	0.048514	0.63407	D	0.509	0.78910	0.676	0.81398	0.530948259028	0.52743	0.7832599608026783	0.78276	.	.	0.803409934044	0.82484	D	0.183282	0.53557	T	0.262473	0.79757	D	0.139248	0.79496	D	0.994370400905609	0.85626	D	0.883312	0.62654	D	0.35159937	0.57191	0.477112	0.69706	0.35159937	0.57191	0.477112	0.69707	-15.211	0.96822	D	.	.	0.932	0.89634	P	.;.;.;.;.;.;.	.;.;.;.;.;.;.	4.419285	0.68430	25.2	0.99404669178338745	0.62981	0.99314	0.94366	D	AEFBI	0.940665	0.94292	D	0.86785734346884	0.90100	10.25299	0.852903496062704	0.93184	11.878	0.999999999878541	0.74766	0.706548	0.73137	0	0.573888	0.26702	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.36	5.36	0.76624	9.512000	0.97013	11.867000	0.98473	0.671000	0.69459	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:1.0:0.0	19.459	0.94902	627	0.65350	PDZ domain;.;.;PDZ domain;.;.;PDZ 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	0.119	122.88	50	chr9	13168391	.	G	C	122.88	.	AC=5;AF=0.119;AN=42;BaseQRankSum=-4.238e+00;DP=1541;ExcessHet=1.1607;FS=163.893;InbreedingCoeff=-0.1408;MLEAC=5;MLEAF=0.119;MQ=60.00;MQRankSum=0.00;QD=0.24;ReadPosRankSum=0.453;SOR=9.953	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:91,16:113:31:.:.:31,0,2214	16	0	5	0
chr9	35906608	35906610	CCG	-	exonic	HRCT1	.	nonframeshift deletion	HRCT1:NM_001039792:exon1:c.321_323del:p.R108del,	.	.	878	634	4	4	2	14	0.009375	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0033	0	0.0005	0.0005	0.0014	0.0040	0	0.0063	1.29e-05	2	154602	rs774393162	0.0019	0.0075	0.0017	0.0020	0.0044	0.0018	0.0018	0.0034	0.0032	0.0005	0.0006	0.0033	0.0001	0.0010	0.0044	0.0019	0.0012	0.0038	0.0018	0.0064	0.0015	0.0021	0.0138	0.0014	0.0013	0.0083	0.0067	0.0001	0.0040	0.0032	0.0023	0	0.0017	0	0.0017	0	0.0138	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	185.12	25	chr9	35906607	.	ACCG	A	185.12	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.431;DP=575;ExcessHet=0.1072;FS=3.593;InbreedingCoeff=-0.0517;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=4.75;ReadPosRankSum=-1.943e+00;SOR=1.668	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:16,5:21:99:0|1:35906607_ACCG_A:110,0,651:35906607	19	0	2	0
chr9	83908453	83908453	T	G	exonic	KIF27	.	nonsynonymous SNV	KIF27:NM_001354070:exon4:c.A17C:p.Q6P	.	.	.	.	.	.	.	.	.	0.9852	0.714	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	299.98	30	chr9	83908453	.	T	G	299.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.166e+00;DP=568;ExcessHet=0.0000;FS=4.593;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.00;ReadPosRankSum=2.20;SOR=1.942	GT:AD:DP:GQ:PL	0/1:8,12:20:99:314,0,240	20	0	1	0
chr9	85642896	85642896	T	A	exonic	AGTPBP1	.	nonsynonymous SNV	AGTPBP1:NM_001286715:exon12:c.A1389T:p.E463D	.	.	445	1076	1	0	0	1	0.000464468	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	T	0.004	B	0.009	B	0.055	N	1.000	D	1.355	L	0.9	T	-1.086	T	0.063	T	0.11	1.590	11.27	4.49	0.971	1.418	11.407	0.072	.	.	0.00279553	0.0009	0	0	0.0108	0	0	0.0011	0.0009	0.0008279	128	154602	rs143779850	0.0003	0.0003	0.0003	0.0003	0.0084	0.0003	0.0003	0.0077	0.0074	0	0	0	0.0084	0	0	4.497e-06	0.0004	0.0010	0.0005	0.0005	0.0004	0.0006	0.0131	0.0004	0.0004	0.0106	0.0097	0	0	0	0	0.0131	0	0	1.47e-05	0.0005	0.0010	0.525	0.07521	T	0.575	0.11371	T	0.001	0.12183	B	0.005	0.14300	B	0.054589	0.22712	N	0.523236	1	0.81001	D	1.385	0.34509	L	0.9	0.45248	T	-0.3	0.14390	N	0.134	0.18784	-1.0863	0.06173	T	0.063	0.26101	T	10	0.0036588013	0.00067	T	.	.	.	0.072	0.21020	0.103	0.01643	0.440498838766	0.43668	0.18644531950493792	0.18562	0.152190323411	0.17174	0.424426198006	0.28445	T	0.074935	0.35059	T	-0.583062	0.00185	T	-0.597981	0.12981	T	0.0177193822870438	0.00502	T	0.735426	0.35200	T	0.051592115	0.09496	0.047734007	0.06941	0.050748624	0.09214	0.043760914	0.05519	-4.066	0.25216	T	.	.	0.086	0.28027	B	.;.;.;.	.;.;.;.	1.591566	0.20356	14.71	0.98581276401938123	0.43245	0.87787	0.47447	D	AEFGBI	0.223407	0.34777	N	-0.31778741594092	0.28471	1.570729	-0.145339303498211	0.33587	1.92288	0.894320989171106	0.25927	0.706298	0.61202	0	0.709663	0.81188	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	5.62	4.49	0.54177	1.250000	0.32453	0.910000	0.22619	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.932000	0.46971	0.0:0.0707:0.0:0.9293	11.407	0.49146	760	0.50470	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	625.98	33	chr9	85642896	.	T	A	625.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.760;DP=726;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.23;ReadPosRankSum=-1.070e-01;SOR=0.784	GT:AD:DP:GQ:PL	0/1:19,25:44:99:640,0,410	20	0	1	0
chr9	86046538	86046538	C	G	exonic	GOLM1	.	nonsynonymous SNV	GOLM1:NM_016548:exon5:c.G399C:p.R133S	.	.	430	1064	28	0	0	28	0.012987	.	.	2826181	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.2	T	0.01	B	0.013	B	0.112	N	1.000	N	1.67	L	1.05	T	-1.043	T	0.053	T	0.18	2.943	15.81	0.305	0.065	-0.257	1.122	0.081	.	0.0018	0.00299521	0.0045	0.0009	0.0044	0	0	0.0029	0.005	0.0174	0.003564	551	154602	rs140984957	0.0030	0.0031	0.0026	0.0035	0.0160	0.0030	0.0029	0.0153	0.0150	0.0006	0.0026	0.0079	0	1.873e-05	0.0090	0.0022	0.0033	0.0160	0.0022	0.0022	0.0024	0.0020	0.0122	0.0020	0.0019	0.0097	0.0088	0.0010	0	0.0036	0.0078	0.0006	0	0.0068	0.0021	0.0052	0.0122	0.15	0.24661	T	0.092	0.39954	T	0.01	0.15535	B	0.013	0.16460	B	0.112196	0.19368	N	0.554792	0.99983	0.20203	N	1.525	0.38595	L	1.05	0.39990	T	-2.86	0.60188	D	0.217	0.24260	-1.0431	0.16383	T	0.053	0.22307	T	10	0.006363988	0.00144	T	.	.	.	0.081	0.23632	0.18	0.08751	0.221734844693	0.21761	0.05271433561658003	0.05213	0.152621739343	0.17216	0.287026971579	0.08491	T	0.422817	0.77377	T	-0.561682	0.00248	T	-0.56662	0.15760	T	0.011707742043697	0.00179	T	0.722728	0.33613	T	0.13586207	0.31516	0.09560074	0.22681	0.13586207	0.31516	0.09560074	0.22680	-3.213	0.12640	T	.	.	0.253	0.48807	B	.;.	.;.	2.344900	0.30055	18.32	0.99020940272567248	0.50569	0.12262	0.17160	N	AEFDBHCI	0.150962	0.27535	N	-0.681197705656371	0.16558	0.8446677	-0.672908185262094	0.17640	0.9388459	0.951063994106124	0.27934	0.706548	0.73137	0	0.670034	0.63936	0	0.643519	0.47002	0	0.714379	0.83352	0	.	.	5.87	0.305	0.15048	-0.302000	0.08259	-0.128000	0.11649	0.599000	0.40250	0.002000	0.15269	0.000000	0.08366	0.980000	0.58198	0.1526:0.4128:0.1482:0.2864	1.122	0.01620	924	0.18029	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	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	1227.98	34	chr9	86046538	.	C	G	1227.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.636;DP=820;ExcessHet=0.0000;FS=3.463;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.77;ReadPosRankSum=-8.510e-01;SOR=0.721	GT:AD:DP:GQ:PL	0/1:64,50:114:99:1242,0,1611	20	0	1	0
chr9	87886490	87886490	C	G	exonic	SPATA31E1	.	nonsynonymous SNV	SPATA31E1:NM_178828:exon4:c.C2003G:p.A668G,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.039	B	0.015	B	0.004	N	1.000	N	-0.16	N	3.35	T	-1.000	T	0.008	T	0.083	-0.829	0.601	-1.18	-0.296	0.407	2.178	0.051	0.011031175253	.	.	1.656e-05	0	0	0	0	3.014e-05	0	0	1.29e-05	2	154602	rs754818397	4.105e-06	4.104e-06	2.723e-06	5.501e-06	2.987e-05	1.48e-06	9.7e-07	8.4e-07	5.7e-07	2.987e-05	2.236e-05	0	0	0	0	3.597e-06	0	0	6.573e-06	1.313e-05	0	1.346e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	1.0	0.00964	T	0.057	0.46406	T	0.034	0.20480	B	0.015	0.17295	B	0.003939	0.00995	N	3.295210	1	0.08975	N	0.35	0.11930	N	3.35	0.05989	T	1.33	0.00912	N	0.065	0.03726	-0.9996	0.30030	T	0.008	0.02720	T	10	0.03286907	0.01448	T	0.011031	0.28229	T	0.051	0.14325	0.191	0.10171	0.0551355673512	0.04727	0.056906128338935345	0.05631	0.0114344192695	0.01068	0.403412640095	0.25544	T	0.001461	0.00916	T	-0.385013	0.02896	T	-0.775335	0.02597	T	0.048447615677477	0.05223	T	0.346065	0.07604	T	0.040153008	0.05680	0.040564466	0.04412	0.040153008	0.05680	0.040564466	0.04412	-2.913	0.09274	T	.	.	0.094	0.14385	B	.	.	0.097846	0.04999	1.557	0.14022454174517407	0.00295	0.00664	0.02871	N	AEFDBI	0.038349	0.05414	N	-1.40257697467321	0.02616	0.1157736	-1.4465947681616	0.02801	0.1295041	0.960511350773824	0.28494	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	2.13	-1.18	0.09122	-0.011000	0.12659	-20.000000	0.00162	0.401000	0.20554	0.040000	0.20979	0.000000	0.08366	0.004000	0.06068	0.2473:0.4252:0.0:0.3275	2.178	0.03631	957	0.09725	SPATA31/FAM205	.	.	.	.	.	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	1348.98	55	chr9	87886490	.	C	G	1348.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.882e+00;DP=1090;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.25;ReadPosRankSum=0.116;SOR=0.700	GT:AD:DP:GQ:PL	0/1:34,49:83:99:1363,0,917	20	0	1	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	0/1:201,124:348:99:484,0,3362	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	1/1:0,2:2:6:49,6,0	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	2/5:0,0,39,0,0,30:69:99:2673,2725,2827,1237,1246,1121,2725,2827,1246,2827,2725,2827,1246,2827,2827,1508,1631,0,1631,1631,1639	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	2/5:0,0,39,0,0,30:69:99:2673,2725,2827,1237,1246,1121,2725,2827,1246,2827,2725,2827,1246,2827,2827,1508,1631,0,1631,1631,1639	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	2/5:0,0,39,0,0,30:69:99:2673,2725,2827,1237,1246,1121,2725,2827,1246,2827,2725,2827,1246,2827,2827,1508,1631,0,1631,1631,1639	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	2/5:0,0,39,0,0,30:69:99:2673,2725,2827,1237,1246,1121,2725,2827,1246,2827,2725,2827,1246,2827,2827,1508,1631,0,1631,1631,1639	1	2	3	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	0/2:14,0,12:26:99:.:.:463,505,1072,0,567,530	2	0	1	0
chr9	98081003	98081003	G	A	exonic	NANS	.	nonsynonymous SNV	NANS:NM_018946:exon5:c.G791A:p.R264Q,	Spondyloepimetaphyseal dysplasia, Camera-Genevieve type, Autosomal recessive	.	419	1100	3	0	0	3	0.00136178	.	.	1448476	not_provided|Inborn_genetic_diseases	MedGen:C3661900|MeSH:D030342,MedGen:C0950123	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.58	T	0.951	P	0.509	P	0.000	N	1.000	D	1.05	L	0.98	T	-1.097	T	0.081	T	0.211	2.255	13.50	2.4	0.740	2.179	10.156	0.047	0.0208357830371	7.7e-05	0.000399361	6.594e-05	0	0.0002	0.0002	0	4.498e-05	0	6.057e-05	6.47e-05	10	154602	rs150891435	4.036e-05	4.036e-05	3.675e-05	4.4e-05	0.0021	3.178e-05	2.91e-05	0.0012	0.0009	5.974e-05	0.0003	0	0.0001	0	0.0021	1.259e-05	0.0002	2.319e-05	0.0003	0.0003	0.0003	0.0003	0.0022	0.0002	0.0002	0.0016	0.0014	9.623e-05	0	0.0022	0	0	0	0	7.35e-05	0.0009	0	0.052	0.48186	T	0.249	0.26714	T	0.951	0.53992	P	0.509	0.47904	P	0.000114	0.50451	N	0.197129	0.860096	0.81001	D	1.165	0.29723	L	0.98	0.42122	T	-1.68	0.48850	N	0.21	0.23380	-1.0975	0.04407	T	0.081	0.31854	T	10	0.041009128	0.02718	T	0.020836	0.43511	T	0.047	0.12962	.	.	0.560453403006	0.55707	0.5673935009475711	0.56667	0.380626190797	0.39428	0.323778271675	0.13993	T	0.004341	0.19376	T	-0.366417	0.03779	T	-0.471961	0.25304	T	0.0254212586290937	0.01328	T	0.824018	0.50835	T	0.108913265	0.25751	0.13862243	0.33101	0.108913265	0.25751	0.13862243	0.33100	-5.463	0.41521	T	.	.	0.093	0.17657	B	.;.;.	.;.;.	3.140245	0.42469	21.5	0.99620186252617071	0.75353	0.84336	0.43418	D	AEFDBCI	0.668275	0.63611	D	-0.243592294884428	0.31359	1.757611	-0.177922547330928	0.32349	1.839601	0.999971550364059	0.50053	0.732398	0.92422	0	0.702456	0.74545	0	0.743671	0.96076	0	0.735409	0.98432	0	.	.	5.29	2.4	0.28568	2.239000	0.42728	1.520000	0.27085	0.676000	0.76740	1.000000	0.71638	0.976000	0.30059	0.870000	0.41412	0.2399:0.0:0.7601:0.0	10.156	0.42000	676	0.60355	N-acetylneuraminic acid synthase, N-terminal;N-acetylneuraminic acid synthase, N-terminal;N-acetylneuraminic acid synthase, 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	1671.98	37	chr9	98081003	.	G	A	1671.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.559;DP=879;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.93;ReadPosRankSum=1.27;SOR=0.678	GT:AD:DP:GQ:PL	0/1:57,63:120:99:1686,0,1487	20	0	1	0
chr9	98081023	98081023	C	T	exonic	NANS	.	nonsynonymous SNV	NANS:NM_018946:exon5:c.C811T:p.R271C,	Spondyloepimetaphyseal dysplasia, Camera-Genevieve type, Autosomal recessive	.	426	1093	3	0	0	3	0.00137049	.	.	1341873	not_provided|Inborn_genetic_diseases	MedGen:C3661900|MeSH:D030342,MedGen:C0950123	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.01	D	0.994	D	0.806	P	0.003	N	1.000	D	1.73	L	0.92	T	-0.832	T	0.163	T	0.427	2.679	14.92	-0.026	-0.158	1.935	14.010	0.226	0.0610726024857	0.0002	0.000199681	0.0001	0	0.0002	0	0	0.0001	0	0.0004	0.0001164	18	154602	rs145067627	0.0001	0.0001	0.0001	0.0001	0.0028	0.0001	9.567e-05	0.0017	0.0014	0	0.0003	0.0011	0	0	0.0028	6.295e-05	0.0003	0.0003	0.0003	0.0003	0.0004	0.0003	0.0022	0.0002	0.0002	0.0016	0.0014	7.215e-05	0	0.0022	0.0014	0	9.414e-05	0	4.41e-05	0.0009	0.0002	0.012	0.54683	D	0.013	0.63109	D	0.96	0.55278	D	0.773	0.56974	P	0.002709	0.36068	N	0.341206	0.998208	0.50402	D	2.52	0.73523	M	0.92	0.44461	T	-2.87	0.66085	D	0.258	0.29197	-0.8317	0.53191	T	0.163	0.49914	T	10	0.07936743	0.12759	T	0.061073	0.68212	D	0.226	0.52472	.	.	0.600181211551	0.59699	0.6879662751772725	0.68736	0.686921346959	0.60353	0.394303262234	0.24274	T	0.035325	0.31948	T	-0.310021	0.07745	T	-0.378553	0.35892	T	0.273379743099213	0.23891	T	0.834417	0.72522	T	0.29058146	0.52046	0.25235644	0.50863	0.29058146	0.52046	0.25235644	0.50863	-7.357	0.56600	T	.	.	0.154	0.42621	B	.;.;.	.;.;.	3.249859	0.44396	21.9	0.99525221820269005	0.69530	0.73433	0.35920	D	AEFDBCI	0.579616	0.58035	D	-0.223779786165907	0.32159	1.810744	-0.362657673416742	0.26121	1.440737	0.999709222398381	0.41986	0.732398	0.92422	0	0.702456	0.74545	0	0.743671	0.96076	0	0.735409	0.98432	0	.	.	5.29	-0.026	0.13258	1.531000	0.35624	3.463000	0.38527	-0.766000	0.03482	0.996000	0.39380	0.999000	0.35428	0.229000	0.22707	0.3967:0.6033:0.0:0.0	14.010	0.64007	676	0.60355	N-acetylneuraminic acid synthase, N-terminal;N-acetylneuraminic acid synthase, N-terminal;N-acetylneuraminic acid synthase, 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	1556.98	37	chr9	98081023	.	C	T	1556.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.546;DP=865;ExcessHet=0.0000;FS=1.576;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.55;ReadPosRankSum=0.915;SOR=0.497	GT:AD:DP:GQ:PL	0/1:50,57:107:99:1571,0,1240	20	0	1	0
chr9	101594777	101594777	G	C	exonic	PPP3R2	.	nonsynonymous SNV	PPP3R2:NM_147180:exon1:c.C145G:p.L49V,	.	.	429	1091	2	0	0	2	0.000915751	.	.	2331109	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.19	T	0.605	P	0.51	P	0.105	N	1.000	N	1.705	L	-0.61	T	-0.635	T	0.271	T	0.325	-0.010	3.961	-0.077	-0.013	1.866	4.428	0.137	0.00961659688518	0.0002	.	0.0002	0	0.0004	0	0	0.0003	0	0.0001	0.0001617	25	154602	rs142403692	0.0001	0.0001	0.0001	0.0001	0.0026	0.0001	0.0001	0.0016	0.0013	8.961e-05	0.0004	0	0	0	0.0026	0.0001	0.0002	0.0003	0.0001	0.0001	0.0001	0.0001	0.0002	8.163e-05	6.72e-05	6.804e-05	5.087e-05	4.81e-05	0	0.0002	0	0	0	0.0034	0.0001	0.0014	0.0002	0.231	0.18246	T	0.208	0.26883	T	.	.	.	.	.	.	0.105305	0.19664	N	0.267986	1	0.81001	D	.	.	.	-0.61	0.71779	T	-1.31	0.32791	N	0.317	0.35727	-0.6348	0.63367	T	0.271	0.64277	T	10	0.19472092	0.35294	T	0.009617	0.25153	T	0.137	0.36984	.	.	0.650239266727	0.64733	.	.	0.4211152985	0.42626	0.368713587523	0.20648	T	.	.	.	-0.268698	0.11903	T	-0.317766	0.42820	T	0.0527502393633199	0.05977	T	0.973903	0.90628	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.882367	0.38144	20.7	0.59838853316596663	0.06319	0.93025	0.57137	D	AEFBI	0.401658	0.47606	N	-0.520672689718082	0.21412	1.13617	-0.64660563436833	0.18302	0.9771153	0.0160997160019888	0.12791	0.487112	0.14033	0	0.59043	0.45803	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	3.94	-0.0771	0.13054	2.075000	0.41163	1.488000	0.26869	-0.106000	0.15538	1.000000	0.71638	0.909000	0.28100	0.592000	0.31189	0.2807:0.0:0.5614:0.1579	4.428	0.10939	895	0.25842	.	.	.	.	.	.	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	2334.98	33	chr9	101594777	.	G	C	2334.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.827e+00;DP=900;ExcessHet=0.0000;FS=1.756;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.67;ReadPosRankSum=-1.081e+00;SOR=0.576	GT:AD:DP:GQ:PL	0/1:111,89:200:99:2349,0,3170	20	0	1	0
chr9	106974250	106974250	T	C	exonic	ZNF462	.	nonsynonymous SNV	ZNF462:NM_001347997:exon9:c.T4214C:p.I1405T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.63	T	0.999	D	0.991	D	0.000	D	1.000	D	0.53	N	4.0	T	-1.074	T	0.061	T	0.838	4.266	22.3	5.66	2.151	7.665	15.905	0.332	0.0225480179474	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.107	0.29554	T	0.0	0.92824	D	0.998	0.73220	D	0.987	0.77487	D	0.000000	0.84330	D	0.000000	1	0.81001	D	1.575	0.39704	L	3.38	0.05778	T	-0.68	0.36980	N	0.873	0.87049	-1.0740	0.08556	T	0.061	0.25455	T	10	0.3783521	0.54005	T	0.022548	0.45449	T	0.332	0.65424	0.419	0.46036	0.043077524339	0.03247	0.5838881706070325	0.58317	2.02329959298	0.94019	0.924512147903	0.98647	D	0.011805	0.11071	T	0.105501	0.64882	D	-0.0862318	0.64445	T	0.798904538154602	0.46279	D	0.963604	0.86445	D	0.1377539	0.31884	0.16932428	0.38958	0.1377539	0.31884	0.16932428	0.38957	-11.857	0.84147	D	.	.	0.989	0.94382	P	.;.;.	.;.;.	4.830708	0.78774	27.0	0.99799257148110543	0.88461	0.98380	0.82188	D	AEFBI	0.909931	0.86721	D	0.462121070414506	0.64895	4.754563	0.527672054984196	0.69859	5.42084	0.999999998491949	0.74766	0.67177	0.52595	0	0.546412	0.12157	0	0.702456	0.68683	0	0.635551	0.53088	0	.	.	5.66	5.66	0.87293	7.645000	0.82580	6.207000	0.54965	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.988000	0.63387	0.0:0.0:0.0:1.0	15.905	0.79209	677	0.60274	Zinc finger C2H2-type;Zinc finger C2H2-type;.	.	.	.	.	.	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	0.2812	2879.53	98	chr9	106974250	.	T	C	2879.53	.	AC=9;AF=0.281;AN=32;BaseQRankSum=-3.477e+00;DP=2598;ExcessHet=4.7172;FS=245.377;InbreedingCoeff=-0.3916;MLEAC=11;MLEAF=0.344;MQ=60.00;MQRankSum=0.00;QD=1.97;ReadPosRankSum=1.47;SOR=12.123	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:122,44:166:99:.:.:333,0,3474	7	0	9	5
chr9	106974252	106974252	G	A	exonic	ZNF462	.	nonsynonymous SNV	ZNF462:NM_001347997:exon9:c.G4216A:p.D1406N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.39	T	1.0	D	0.997	D	0.000	D	1.000	D	0.845	L	4.01	T	-1.115	T	0.065	T	0.14	5.527	35	5.66	2.662	9.434	19.759	0.240	0.0408367045235	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.031	0.45039	D	0.0	0.92824	D	1.0	0.90584	D	0.994	0.82059	D	0.000000	0.84330	D	0.000000	1	0.81001	D	1.9	0.50570	L	3.42	0.05507	T	-1.1	0.35991	N	0.785	0.79503	-1.1146	0.02703	T	0.065	0.26772	T	10	0.41275227	0.56336	T	0.040837	0.59597	D	0.240	0.54500	0.441	0.49648	0.138757226776	0.13463	0.7163974984860814	0.71582	1.77884305262	0.91374	0.91669100523	0.98061	D	0.018486	0.14891	T	-0.186331	0.22798	T	-0.505428	0.21785	T	0.864430676400788	0.51459	D	0.975002	0.91107	D	0.1619377	0.36236	0.1629017	0.37816	0.1619377	0.36236	0.1629017	0.37816	-10.165	0.76340	D	.	.	0.990	0.93507	P	.;.;.	.;.;.	5.368506	0.90010	31	0.99920868308788402	0.98721	0.99180	0.92409	D	AEFBI	0.912600	0.87345	D	0.658390178150991	0.76912	6.574868	0.70769665526324	0.82963	7.898997	0.999999999998965	0.74766	0.67177	0.52595	0	0.546412	0.12157	0	0.702456	0.68683	0	0.635551	0.53088	0	.	.	5.66	5.66	0.87293	9.564000	0.97283	11.869000	0.98523	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.982000	0.59238	0.0:0.0:1.0:0.0	19.759	0.96302	677	0.60274	Zinc finger C2H2-type;Zinc finger C2H2-type;.	.	.	.	.	.	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	0.075	989.01	80	chr9	106974252	.	G	A	989.01	.	AC=3;AF=0.075;AN=40;BaseQRankSum=-4.111e+00;DP=1533;ExcessHet=0.3300;FS=217.469;InbreedingCoeff=-0.0966;MLEAC=3;MLEAF=0.075;MQ=60.00;MQRankSum=0.00;QD=2.22;ReadPosRankSum=2.52;SOR=9.364	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:122,34:161:99:.:.:252,0,4095	17	0	3	1
chr9	108901650	108901650	C	T	exonic	ELP1	.	nonsynonymous SNV	ELP1:NM_001330749:exon15:c.G839A:p.R280H	.	YES	0	1520	2	0	0	2	0.000657462	.	.	191902	not_specified|Familial_dysautonomia|not_provided	MedGen:CN169374|MONDO:MONDO:0009131,MedGen:C0013364,OMIM:223900,Orphanet:1764|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.36	T	0.355	B	0.11	B	0.000	D	0.594	D	1.175	L	1.67	T	-1.011	T	0.050	T	0.155	2.806	15.34	4.09	0.825	4.516	7.709	0.076	0.00958433338634	0.0023	0.00119808	0.0019	0.0005	0.0013	0	0.0018	0.0028	0.0011	0.0007	0.0019146	296	154602	rs148378319	0.0027	0.0027	0.0027	0.0028	0.0031	0.0027	0.0026	0.0030	0.0030	0.0006	0.0018	0.0048	0	0.0015	0.0005	0.0031	0.0025	0.0008	0.0020	0.0020	0.0021	0.0019	0.0031	0.0018	0.0018	0.0027	0.0025	0.0006	0	0.0031	0.0026	0	0.0012	0.0034	0.0030	0.0024	0.0010	0.15	0.25355	T	0.388	0.30045	T	0.355	0.33731	B	0.11	0.31460	B	0.000001	0.62929	D	0.100213	0.594498	0.32484	D	1.61	0.41143	L	1.67	0.27331	T	-1.52	0.36980	N	0.283	0.32037	-1.0106	0.26729	T	0.050	0.21261	T	10	0.008384824	0.00190	T	0.009584	0.25062	T	0.076	0.22200	.	.	0.570372710236	0.56703	0.4569019088939758	0.45608	0.161409636425	0.18220	0.384141176939	0.22841	T	0.076169	0.35354	T	-0.513158	0.00482	T	-0.507558	0.21566	T	0.0280518462187967	0.01696	T	0.89971	0.64861	D	0.09341193	0.21940	0.06678121	0.13727	0.09341193	0.21939	0.06678121	0.13727	-7.735	0.59251	D	0.2812704806188515	0.37661	0.128	0.28319	B	.;.	.;.	3.570902	0.50292	22.9	0.99532026903583581	0.69963	0.88818	0.48931	D	AEFGBI	0.229714	0.35319	N	-0.0378548052419963	0.40147	2.379276	0.10093688058396	0.44596	2.738356	0.991422493709861	0.32484	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.94	4.09	0.47038	4.832000	0.62449	3.992000	0.40997	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.1616:0.7563:0.0:0.0822	7.709	0.27832	921	0.19240	.;.	.	.	.	.	.	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	1191.98	35	chr9	108901650	.	C	T	1191.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.51;DP=789;ExcessHet=0.0000;FS=2.596;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.57;ReadPosRankSum=-2.830e-01;SOR=0.958	GT:AD:DP:GQ:PL	0/1:59,44:103:99:1206,0,1466	20	0	1	0
chr9	110385901	110385901	C	G	exonic	SVEP1	.	nonsynonymous SNV	SVEP1:NM_153366:exon43:c.G10234C:p.E3412Q,	.	.	451	1049	21	1	0	23	0.0108439	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.43	T	1.0	D	0.996	D	0.000	D	1.000	D	1.065	L	1.82	T	-1.106	T	0.072	T	0.302	4.059	20.9	4.18	1.284	2.775	13.976	0.136	.	0.0039	0.00479233	0.0054	0.0012	0.0025	0	0.0053	0.0061	0.0034	0.0105	0.0051746	800	154602	rs145193955	0.0061	0.0061	0.0060	0.0063	0.0111	0.0060	0.0060	0.0105	0.0102	0.0008	0.0025	0.0015	0	0.0050	0.0059	0.0065	0.0058	0.0111	0.0043	0.0043	0.0046	0.0040	0.0110	0.0040	0.0039	0.0086	0.0078	0.0008	0	0.0031	0	0	0.0036	0.0068	0.0069	0.0043	0.0110	.	.	.	0.002	0.79402	D	1.0	0.90584	D	0.996	0.84481	D	0.000001	0.62929	D	0.095495	0.810376	0.34633	D	1.795	0.47270	L	.	.	.	.	.	.	0.436	0.47487	-1.1058	0.03457	T	0.072	0.29291	T	10	0.009075999	0.00205	T	.	.	.	0.136	0.36778	.	.	0.043077524339	0.03247	0.4898405157219356	0.48904	0.409573402614	0.41769	0.550909638405	0.45985	T	0.015123	0.12745	T	-0.395989	0.02459	T	-0.332192	0.41225	T	0.00490220077480139	0.00053	T	0.70483	0.31518	T	0.16026472	0.35956	0.11986449	0.28929	0.16026472	0.35956	0.11986449	0.28929	-3.781	0.20521	T	.	.	0.090	0.12702	B	.;.	.;.	3.147362	0.42591	21.6	0.9974708888691064	0.83927	0.94525	0.61448	D	AEFBI	0.642113	0.61920	D	0.353146153180253	0.58905	4.065826	0.352233675522645	0.58641	4.035978	0.978342231168476	0.29912	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	5.07	4.18	0.48473	3.062000	0.49664	3.276000	0.37195	0.593000	0.32247	1.000000	0.71638	0.998000	0.33993	0.995000	0.73285	0.0:0.9267:0.0:0.0733	13.976	0.63788	975	0.05339	Sushi/SCR/CCP domain|Sushi/SCR/CCP domain;Sushi/SCR/CCP domain|Sushi/SCR/CCP domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1019.98	34	chr9	110385901	.	C	G	1019.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.48;DP=781;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.74;ReadPosRankSum=1.80;SOR=0.648	GT:AD:DP:GQ:PL	0/1:56,39:95:99:1034,0,1515	20	0	1	0
chr9	112124289	112124289	C	T	exonic	SUSD1	.	nonsynonymous SNV	SUSD1:NM_001282640:exon6:c.G854A:p.G285D	.	.	436	1080	6	0	0	6	0.00277008	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.21	T	1.0	D	1.0	D	0.000	D	0.979	D	3.06	M	0.48	T	-0.338	T	0.298	T	0.603	4.171	21.6	4.95	1.474	3.015	10.880	0.319	0.039828258203	0.0036	0.000399361	0.0026	0.0006	0.0014	0	0.0011	0.0042	0	6.117e-05	0.0026002	402	154602	rs146879704	0.0030	0.0030	0.0030	0.0030	0.0036	0.0029	0.0029	0.0035	0.0035	0.0005	0.0018	0.0005	5.038e-05	0.0013	0.0031	0.0036	0.0023	0.0001	0.0024	0.0024	0.0027	0.0022	0.0041	0.0022	0.0021	0.0037	0.0036	0.0006	0.0022	0.0021	0.0009	0	0.0017	0.0136	0.0041	0.0028	0	0.008	0.58626	D	0.081	0.42614	T	1.0	0.90584	D	1.0	0.97372	D	0.000201	0.48115	D	0.000000	0.979265	0.39544	D	3.315	0.90654	M	0.48	0.55945	T	-3.58	0.70314	D	0.633	0.65758	-0.3382	0.73896	T	0.298	0.66924	T	10	0.012603849	0.00270	T	0.039828	0.59031	D	0.407	0.71946	.	.	0.64631468906	0.64338	0.978481959931082	0.97839	0.824216072562	0.67307	0.497405380011	0.38466	T	0.166527	0.51279	T	-0.285006	0.10145	T	-0.181902	0.56347	T	0.066999169964882	0.08224	T	0.856014	0.54441	D	0.41202864	0.61557	0.40520808	0.64927	0.41202864	0.61558	0.40520808	0.64927	-13.083	0.89786	D	.	.	0.586	0.68305	P	.;.;.	.;.;.	4.427291	0.68622	25.3	0.99836683661152226	0.91800	0.75070	0.36741	D	AEFBI	0.254599	0.37388	N	0.674758899572937	0.77978	6.780056	0.61250545140333	0.75846	6.383561	0.999917707520526	0.45857	0.706548	0.73137	0	0.670034	0.63936	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	5.85	4.95	0.64894	3.238000	0.51051	3.954000	0.40696	0.587000	0.30956	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:0.9137:0.0:0.0863	10.880	0.46143	819	0.41190	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	0	0	0	0	0	0	0	0	0	0	0	0.02381	1702.98	34	chr9	112124289	.	C	T	1702.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.050e-01;DP=822;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.20;ReadPosRankSum=-8.860e-01;SOR=0.660	GT:AD:DP:GQ:PL	0/1:62,67:129:99:1717,0,1559	20	0	1	0
chr9	121763798	121763798	C	T	exonic	DAB2IP	.	nonsynonymous SNV	DAB2IP:NM_138709:exon6:c.C1007T:p.S336L	.	.	.	.	.	.	.	.	.	.	.	723312	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.03	D	0.713	P	0.248	B	0.000	D	1.000	D	1.675	L	-1.32	T	-0.263	T	0.274	T	0.434	5.300	34	5.27	2.619	7.818	18.238	0.529	.	0.0078	0.0061901	0.0020	0.0215	0.0002	0	0	0.0001	0.0011	0	0.0019017	294	154602	rs76191175	0.0006	0.0006	0.0007	0.0006	0.0232	0.0006	0.0006	0.0218	0.0213	0.0232	0.0006	0	0	5.623e-05	0.0002	4.946e-05	0.0010	6.956e-05	0.0064	0.0064	0.0063	0.0065	0.0225	0.0061	0.0059	0.0213	0.0208	0.0225	0	0.0017	0	0	0	0	1.47e-05	0.0043	0.0004	0.034	0.48186	D	0.088	0.41573	T	.	.	.	.	.	.	0.000022	0.55875	D	0.000000	1	0.81001	D	1.61	0.41143	L	-1.32	0.79761	T	-3.44	0.67477	D	0.838	0.88687	-0.2628	0.76011	T	0.274	0.64536	T	10	0.0050864816	0.00110	T	.	.	.	0.529	0.80128	.	.	0.520477512065	0.51690	0.5354024376879282	0.53465	1.44919465983	0.86121	0.74039286375	0.73030	T	0.641892	0.89029	D	-0.259828	0.12919	T	-0.127748	0.61161	T	0.0474249126552095	0.05040	T	0.90421	0.66877	D	0.20808363	0.43034	0.20265295	0.44305	0.20808363	0.43034	0.20265295	0.44304	-7.811	0.60174	D	.	.	0.110	0.21277	B	.;.;.;.;.	.;.;.;.;.	5.241562	0.87993	29.4	0.99923238081323917	0.98917	0.98515	0.83602	D	AEFGBI	0.935156	0.92960	D	0.451892141785996	0.64310	4.682693	0.533953097190365	0.70288	5.483384	1.0	0.98316	0.744818	0.98587	0	0.610034	0.51514	0	0.732433	0.93434	0	0.714379	0.83352	0	.	.	5.27	5.27	0.73797	7.905000	0.86479	7.670000	0.64725	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.766000	0.36367	0.0:1.0:0.0:0.0	18.238	0.89893	923	0.18507	.;Ras GTPase-activating domain|Ras GTPase-activating domain|Ras GTPase-activating domain;Ras GTPase-activating domain|Ras GTPase-activating domain|Ras GTPase-activating 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	2509.98	38	chr9	121763798	.	C	T	2509.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.28;DP=898;ExcessHet=0.0000;FS=7.868;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.01;ReadPosRankSum=0.560;SOR=0.372	GT:AD:DP:GQ:PL	0/1:115,94:209:99:2524,0,2805	20	0	1	0
chr9	122615284	122615284	G	A	exonic	OR1Q1	.	nonsynonymous SNV	OR1Q1:NM_012364:exon1:c.G547A:p.A183T,	.	.	427	1094	1	0	0	1	0.00045683	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.39	T	0.691	P	0.18	B	0.004	N	1.000	N	1.415	L	8.69	T	-0.903	T	0.000	T	0.052	2.406	14.00	3.7	0.878	0.115	15.195	0.106	.	0.0078	0.00778754	0.0023	0.0255	0.0009	0	0	5.994e-05	0	0	0.0022186	343	154602	rs116701890	0.0007	0.0007	0.0008	0.0006	0.0255	0.0007	0.0007	0.0241	0.0235	0.0255	0.0015	0	2.519e-05	3.744e-05	0.0016	4.946e-05	0.0016	2.319e-05	0.0069	0.0069	0.0076	0.0063	0.0242	0.0066	0.0064	0.0229	0.0224	0.0242	0	0.0022	0	0	0	0	0.0001	0.0033	0	0.029	0.45756	D	0.056	0.46632	T	0.691	0.41647	P	0.18	0.35854	B	0.004194	0.34013	N	0.136171	1	0.08975	N	1.075	0.27130	L	8.69	0.00119	T	-0.72	0.20358	N	0.122	0.11340	-0.9034	0.47628	T	0.000	0.00039	T	10	0.0034819841	0.00062	T	.	.	.	0.106	0.30130	.	.	0.464442853059	0.46069	0.04437467977180735	0.04381	0.218546471118	0.24393	0.172602191567	0.00043	T	0.002007	0.01413	T	-0.719337	0.00028	T	-0.78713	0.02244	T	0.033771913054266	0.02599	T	0.735226	0.35154	T	0.11180272	0.26419	0.15435165	0.36230	0.11180272	0.26419	0.15435165	0.36229	-4.747	0.33968	T	.	.	0.136	0.29477	B	.	.	2.630717	0.34205	19.56	0.99352659907747187	0.60656	0.18177	0.20151	N	AEFGI	0.129896	0.24824	N	-0.403303183776815	0.25353	1.375654	-0.367892542547356	0.25960	1.430944	0.00203499204558874	0.09104	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	5.57	3.7	0.41607	0.141000	0.15897	-0.419000	0.09297	-0.998000	0.01821	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.0:0.5806:0.4194:0.0	15.195	0.72764	959	0.08690	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	2891.98	82	chr9	122615284	.	G	A	2891.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.044e+00;DP=1803;ExcessHet=0.0000;FS=1.658;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.45;ReadPosRankSum=0.605;SOR=0.574	GT:AD:DP:GQ:PL	0/1:108,107:215:99:2906,0,2946	20	0	1	0
chr9	122919228	122919228	T	C	exonic	ZBTB26	.	nonsynonymous SNV	ZBTB26:NM_001304363:exon2:c.A707G:p.H236R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.57	T	0.329	B	0.024	B	0.000	D	0.632	D	1.15	L	2.85	T	-1.009	T	0.005	T	0.239	-0.093	3.542	5.52	2.099	3.297	11.646	0.061	.	0.0068	0.00678914	0.0020	0.0208	0.0013	0	0	5.994e-05	0.0033	0.0003	0.0019017	294	154602	rs7856488	0.0005	0.0005	0.0006	0.0005	0.0189	0.0005	0.0005	0.0177	0.0172	0.0189	0.0010	0	0	0	0.0010	1.079e-05	0.0012	0.0002	0.0054	0.0054	0.0059	0.0048	0.0188	0.0051	0.0049	0.0177	0.0172	0.0188	0	0.0017	0	0	0	0	7.35e-05	0.0019	0.0002	0.56	0.06381	T	0.596	0.08052	T	0.329	0.33227	B	0.024	0.20255	B	0.000125	0.49741	D	0.136105	0.63184	0.32797	D	0.69	0.16971	N	2.85	0.10578	T	-0.42	0.14193	N	0.12	0.12484	-1.0088	0.27292	T	0.005	0.01651	T	10	0.004674226	0.00098	T	.	.	.	0.061	0.17616	.	.	0.528308644755	0.52478	0.3908026097652664	0.38995	0.735025330382	0.62936	0.537713170052	0.44123	T	0.019455	0.15495	T	-0.557557	0.00262	T	-0.558073	0.16558	T	0.0138167155166516	0.00261	T	0.786121	0.42437	T	0.051965497	0.09622	0.07366444	0.16031	0.051965497	0.09621	0.07366444	0.16030	-3.623	0.18190	T	.	.	0.187	0.40295	B	.;.	.;.	3.202689	0.43564	21.8	0.90629416839424459	0.19881	0.69625	0.34262	D	AEFBI	0.085515	0.17335	N	-0.0498216977070354	0.39610	2.338675	0.125289609135848	0.45847	2.840661	0.999996495879249	0.74766	0.706548	0.73137	0	0.653731	0.59785	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	5.52	5.52	0.82153	3.357000	0.51997	7.953000	0.75875	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:0.1481:0.8519	11.646	0.50521	902	0.24074	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	1219.98	34	chr9	122919228	.	T	C	1219.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.260e+00;DP=815;ExcessHet=0.0000;FS=2.360;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.43;ReadPosRankSum=-4.180e-01;SOR=0.921	GT:AD:DP:GQ:PL	0/1:66,51:117:99:1234,0,1861	20	0	1	0
chr9	123035200	123035200	T	G	exonic	GPR21	.	nonsynonymous SNV	GPR21:NM_005294:exon2:c.T634G:p.F212V,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.38	T	0.013	B	0.008	B	0.014	U	1.000	D	0.375	N	-0.55	T	-1.036	T	0.029	T	0.118	0.100	4.538	5.47	2.075	4.922	15.552	0.122	.	0.0084	0.00798722	0.0024	0.0252	0.0014	0	0	8.991e-05	0.0033	0.0002	0.0023027	356	154602	rs61736065	0.0007	0.0007	0.0008	0.0006	0.0240	0.0007	0.0006	0.0226	0.0221	0.0240	0.0012	0	0	0	0.0019	3.237e-05	0.0016	9.275e-05	0.0068	0.0068	0.0072	0.0064	0.0237	0.0064	0.0063	0.0225	0.0220	0.0237	0	0.0023	0	0	0	0	0.0001	0.0028	0	1.0	0.00964	T	0.502	0.11115	T	0.013	0.16609	B	0.008	0.13708	B	0.013997	0.28669	U	0.289540	1	0.81001	D	0.025	0.08010	N	-0.55	0.71068	T	-0.09	0.08340	N	0.248	0.29889	-1.0356	0.18668	T	0.029	0.12234	T	10	0.0053842664	0.00118	T	.	.	.	0.122	0.33800	.	.	0.187035705434	0.18338	0.17571031615458294	0.17490	0.279823739817	0.30466	0.682528078556	0.64632	T	0.010691	0.09625	T	-0.414395	0.01859	T	-0.349773	0.39231	T	0.0252198840203484	0.01302	T	0.850615	0.53448	D	0.22383426	0.45013	0.32517353	0.58434	0.22383426	0.45013	0.32517353	0.58434	-3.152	0.11903	T	.	.	0.165	0.38043	B	.;.	.;.	3.126680	0.42236	21.5	0.85013736831774678	0.15633	0.83492	0.42606	D	AEDGBHCI	0.378931	0.46214	N	-0.175551019835043	0.34156	1.946086	0.0539128897350122	0.42262	2.553113	0.999999999634231	0.74766	0.372202	0.05800	0	0.446627	0.06534	0	0.463624	0.06942	0	0.714379	0.83352	0	.	.	5.47	5.47	0.80345	4.930000	0.63163	6.246000	0.55309	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:0.0:1.0	15.552	0.75902	883	0.28872	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1709.98	44	chr9	123035200	.	T	G	1709.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.05;DP=923;ExcessHet=0.0000;FS=2.956;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.48;ReadPosRankSum=1.02;SOR=0.794	GT:AD:DP:GQ:PL	0/1:88,61:149:99:1724,0,2429	20	0	1	0
chr9	128258520	128258522	CCT	-	exonic	GOLGA2	.	nonframeshift deletion	GOLGA2:NM_001366246:exon21:c.2105_2107del:p.E703del	.	.	334	916	219	43	10	315	0.142723	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1429	6196.26	36	chr9	128258516	.	GCCTCCT	GCCT,G	6196.26	.	AC=5,1;AF=0.119,0.024;AN=42;BaseQRankSum=-2.320e-01;DP=932;ExcessHet=1.7912;FS=2.196;InbreedingCoeff=-0.1667;MLEAC=5,1;MLEAF=0.119,0.024;MQ=60.00;MQRankSum=0.00;QD=16.57;ReadPosRankSum=0.432;SOR=0.574	GT:AD:DP:GQ:PL	0/2:17,0,21:38:99:796,847,1517,0,669,606	15	0	5	0
chr9	128456176	128456176	C	T	exonic	ODF2	.	nonsynonymous SNV	ODF2:NM_001351577:exon1:c.C85T:p.R29C	.	.	424	1095	3	0	0	3	0.00136799	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	.	.	.	.	.	.	1.000	D	0.345	N	0.8	T	-0.888	T	0.122	T	0.377	5.230	33	4.83	2.494	3.786	14.769	0.063	0.10249150954	.	0.000199681	0.0016	0	0.0052	0	0	0	0.0067	0.0026	0.0001876	29	154602	rs565971283	0.0004	0.0004	0.0003	0.0005	0.0031	0.0004	0.0003	0.0019	0.0018	0.0003	0.0004	0	0	0	0.0031	0.0003	0.0008	0.0022	0.0003	0.0003	0.0002	0.0004	0.0031	0.0002	0.0002	0.0019	0.0015	0.0001	0	0.0007	0	0	0	0	0.0002	0.0019	0.0031	0.0	0.91255	D	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	0.918408	0.81001	D	.	.	.	0.8	0.48769	T	-0.35	0.12847	N	0.474	0.50958	-0.8885	0.49063	T	0.122	0.42378	T	7	0.011974424	0.00259	T	0.102492	0.77598	D	0.063	0.18251	.	.	0.527404433557	0.52387	.	.	.	.	0.899554729462	0.96391	D	.	.	.	-0.383667	0.02953	T	-0.330054	0.41462	T	0.0923937469964991	0.11498	T	0.783522	0.42019	T	.	.	.	.	.	.	.	.	-4.879	0.35498	T	.	.	0.418	0.60587	A	.	.	5.272552	0.88533	29.6	0.99898367832188029	0.97048	0.93684	0.58897	D	ALL	0.661332	0.63159	D	0.224936906791173	0.52410	3.415333	0.330911783921956	0.57362	3.901868	1.0	0.98316	0.652421	0.48094	0	0.52208	0.09955	0	0.64067	0.45733	0	0.372554	0.06265	0	.	.	4.83	4.83	0.61880	1.073000	0.30302	4.623000	0.44084	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:1.0:0.0:0.0	14.769	0.69280	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	802.98	33	chr9	128456176	.	C	T	802.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.800e-02;DP=792;ExcessHet=0.0000;FS=1.955;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.31;ReadPosRankSum=0.587;SOR=0.771	GT:AD:DP:GQ:PL	0/1:34,37:71:99:817,0,720	20	0	1	0
chr9	128583835	128583835	G	A	exonic	SPTAN1	.	nonsynonymous SNV	SPTAN1:NM_001130438:exon16:c.G2059A:p.V687I	Epileptic encephalopathy, early infantile, 5, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.28	T	0.967	D	0.97	D	0.000	D	1.000	D	0.915	L	0.73	T	-0.873	T	0.209	T	0.331	4.691	26.0	5.7	2.692	9.476	18.819	0.199	0.0138222433887	.	.	.	.	.	.	.	.	.	.	.	.	.	rs975797010	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.321	0.15930	T	0.299	0.20680	T	0.169	0.53992	B	0.124	0.64641	B	0.000000	0.84330	D	0.000000	0.999999	0.58761	D	0.115	0.08564	N	0.73	0.50721	T	-0.56	0.17003	N	0.435	0.52475	-0.8729	0.50310	T	0.209	0.56839	T	10	0.25872904	0.43303	T	0.013822	0.33509	T	0.199	0.48268	0.547	0.66156	0.450326921165	0.44653	0.2918894418387658	0.29101	0.887394481255	0.70061	0.69676887989	0.66677	T	0.118187	0.43882	T	-0.0820273	0.39386	T	-0.355603	0.38561	T	0.679796874523163	0.39779	D	0.958604	0.84374	D	0.107062325	0.25316	0.13466243	0.32263	0.107062325	0.25315	0.13466243	0.32262	-5.221	0.39155	T	0.11927866035394692	0.11095	0.134	0.36947	B	.;.;.;.;.	.;.;.;.;.	4.338629	0.66545	25.0	0.99864268289892355	0.94276	0.99334	0.94646	D	AEFBI	0.885612	0.81628	D	0.506921484805442	0.67499	5.089699	0.606704373934405	0.75427	6.308375	0.999999999991163	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.7	5.7	0.88690	9.602000	0.97623	11.919000	0.99774	0.672000	0.70159	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:1.0:0.0	18.819	0.92054	0	0.99858	.;.;.;.;.	.	.	.	.	.	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	1700.98	34	chr9	128583835	.	G	A	1700.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.267e+00;DP=852;ExcessHet=0.0000;FS=7.421;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.73;ReadPosRankSum=-1.240e+00;SOR=0.330	GT:AD:DP:GQ:PL	0/1:72,73:145:99:1715,0,1763	20	0	1	0
chr9	128720503	128720503	C	T	exonic	PKN3	.	nonsynonymous SNV	PKN3:NM_013355:exon22:c.C2567T:p.P856L,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.23	T	0.075	B	0.018	B	.	.	0.993	D	2.27	M	0.36	T	-0.927	T	0.150	T	0.208	2.434	14.10	4.18	1.142	0.497	6.597	0.142	0.0438788578751	.	0.000599042	0.0002	0	0	0	0	0.0003	0	0.0001	0.0001811	28	154602	rs201035165	0.0002	0.0002	0.0002	0.0002	0.0003	0.0002	0.0002	0.0002	0.0002	5.974e-05	4.472e-05	0	2.519e-05	1.904e-05	0	0.0003	0.0002	8.116e-05	0.0002	0.0002	0.0003	0.0001	0.0010	0.0001	0.0001	0.0004	0.0003	4.811e-05	0	0	0	0	0	0	0.0004	0	0.0010	0.164	0.23360	T	0.28	0.21678	T	0.075	0.24198	B	0.018	0.18489	B	.	.	.	.	0.993346	0.41910	D	1.53	0.38800	L	0.36	0.57880	T	-2.23	0.50012	N	0.152	0.15609	-0.9266	0.44630	T	0.150	0.47663	T	9	0.030432135	0.01170	T	0.043879	0.61206	D	0.142	0.37995	.	.	0.621786299428	0.61872	0.44100755993987345	0.44017	0.320336579067	0.34239	0.503925085068	0.39375	T	0.321285	0.69240	T	-0.369765	0.03605	T	-0.474084	0.25077	T	0.0293763023862141	0.01894	T	0.79572	0.43862	T	0.04257406	0.06480	0.07008021	0.14847	0.04257406	0.06480	0.07008021	0.14846	-8.496	0.64403	D	.	.	0.061	0.01092	B	.	.	2.120443	0.26987	17.31	0.98771394402722978	0.45971	0.39949	0.26327	N	AEFDGBCI	0.232475	0.35554	N	-0.297456983424693	0.29247	1.62018	-0.226666968484259	0.30584	1.723316	0.999998570260257	0.74766	0.67177	0.52595	0	0.697927	0.68747	0	0.643519	0.47002	0	0.711	0.71501	0	.	.	5.08	4.18	0.48473	0.397000	0.20608	2.212000	0.31376	-0.171000	0.11205	0.054000	0.21560	0.978000	0.30204	0.908000	0.44358	0.177:0.7304:0.0:0.0926	6.597	0.21871	0	0.99858	Protein kinase, C-terminal|AGC-kinase, C-terminal|AGC-kinase, 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	806.98	38	chr9	128720503	.	C	T	806.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.523;DP=869;ExcessHet=0.0000;FS=0.873;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.84;ReadPosRankSum=0.179;SOR=0.872	GT:AD:DP:GQ:PL	0/1:48,34:82:99:821,0,1205	20	0	1	0
chr9	129620196	129620196	-	A	exonic	C9orf50	.	frameshift insertion	C9orf50:NM_199350:exon1:c.378_379insT:p.P127Sfs*27,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1036397309	2.927e-05	2.873e-05	1.804e-05	4.108e-05	0.0006	2.176e-05	1.905e-05	0.0004	0.0004	0	0	0	0	0	0.0002	0	1.886e-05	0.0006	1.972e-05	1.97e-05	1.285e-05	2.691e-05	0.0004	5.24e-06	2.45e-06	7.279e-05	3.025e-05	0	0	0	0	0	0	0	1.47e-05	0	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1482.94	42	chr9	129620196	.	G	GA	1482.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.580;DP=837;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=22.81;ReadPosRankSum=-6.110e-01;SOR=0.636	GT:AD:DP:GQ:PL	0/1:23,42:65:99:1497,0,734	20	0	1	0
chr9	129637849	129637849	C	T	exonic	ASB6	.	nonsynonymous SNV	ASB6:NM_001202403:exon5:c.G1120A:p.D374N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	D	1.0	D	0.999	D	0.000	D	1.000	D	1.23	L	1.0	T	-0.764	T	0.203	T	0.106	4.666	25.7	4.95	2.564	5.215	17.337	0.201	0.025790405812	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1361443042	5.088e-06	7.524e-06	5.708e-06	4.445e-06	0.0002	2.12e-06	1.36e-06	4.62e-06	1.73e-06	0	0	0	2.566e-05	0	0.0002	2.802e-06	0	2.783e-05	6.57e-06	6.567e-06	0	1.345e-05	2.412e-05	0	0	.	.	2.412e-05	0	0	0	0	0	0	0	0	0	0.05	0.39575	D	0.025	0.57587	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	1	0.81001	D	1.225	0.30651	L	1.0	0.41392	T	-0.87	0.23590	N	0.336	0.37717	-0.7643	0.57171	T	0.203	0.55975	T	10	0.40878934	0.56080	T	0.02579	0.48740	D	0.201	0.48592	0.586	0.71371	0.307966526162	0.30417	0.40249025196668964	0.40165	0.367723749247	0.38336	0.587109923363	0.51087	T	0.034604	0.24916	T	-0.194779	0.21561	T	-0.517563	0.20541	T	0.789514422416687	0.45658	D	0.889911	0.62289	D	0.21771455	0.44262	0.17098735	0.39249	0.21771455	0.44262	0.17098735	0.39248	-4.573	0.31831	T	.	.	0.223	0.45433	B	.;.	.;.	4.689426	0.75131	26.3	0.99922703484129183	0.98852	0.98990	0.89628	D	AEFDGBHCI	0.578726	0.57981	D	0.560989778773623	0.70754	5.548142	0.548858488056949	0.71315	5.636549	1.0	0.98316	0.67177	0.52595	0	0.697927	0.68747	0	0.697927	0.64325	0	0.711	0.71501	0	.	.	4.95	4.95	0.64894	5.459000	0.66422	6.028000	0.52885	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.899000	0.43558	0.0:1.0:0.0:0.0	17.337	0.87172	328	0.86572	SOCS box domain|SOCS box domain|SOCS box domain|SOCS box domain|Ankyrin repeat and SOCS box protein 6, SOCS box domain;SOCS box domain|SOCS box domain|SOCS box domain|SOCS box domain|Ankyrin repeat and SOCS box protein 6, SOCS box 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	789.98	33	chr9	129637849	.	C	T	789.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.69;DP=754;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.86;ReadPosRankSum=-2.800e-01;SOR=0.720	GT:AD:DP:GQ:PL	0/1:30,27:57:99:804,0,885	20	0	1	0
chr9	130911831	130911831	G	C	exonic	FIBCD1	.	nonsynonymous SNV	FIBCD1:NM_032843:exon5:c.C907G:p.R303G	.	.	414	1044	61	3	0	67	0.0310905	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.977	D	0.9	P	0.000	D	1.000	D	2.54	M	-1.12	T	0.399	D	0.609	D	0.642	2.707	15.01	4.18	2.404	2.054	15.166	0.621	.	0.0039	0.00279553	0.0073	0.0002	0.0035	0	0.0029	0.0074	0.0074	0.0172	0.0046442	718	154602	rs144181457	0.0046	0.0046	0.0042	0.0050	0.0237	0.0045	0.0045	0.0204	0.0192	0.0006	0.0020	0.0127	5.136e-05	0.0020	0.0237	0.0040	0.0048	0.0155	0.0037	0.0037	0.0037	0.0038	0.0138	0.0035	0.0034	0.0111	0.0101	0.0005	0.0186	0.0029	0.0136	0	0.0016	0.0136	0.0049	0.0081	0.0138	0.003	0.68238	D	0.002	0.79402	D	0.977	0.58535	D	0.9	0.63913	P	0.000014	0.62929	D	0.112664	0.999867	0.50061	D	2.85	0.82803	M	-1.64	0.82533	D	-4.28	0.77881	D	0.742	0.77601	0.399	0.89075	D	0.609	0.86161	D	10	0.02502969	0.00710	T	.	.	.	0.621	0.85301	.	.	0.843453965544	0.84196	0.5856316524252596	0.58492	0.535445488609	0.50911	0.552755832672	0.46246	T	0.155961	0.49792	T	-0.170944	0.25092	T	-0.00664874	0.69902	D	0.0313949127240149	0.02208	T	0.953105	0.82105	D	0.6424315	0.74961	0.4553206	0.68334	0.6424315	0.74962	0.4553206	0.68334	-8.692	0.65693	D	.	.	0.318	0.58826	B	.;.;.	.;.;.	4.207188	0.63535	24.6	0.99806678207815691	0.89085	0.86228	0.45468	D	AEFDBCI	0.590179	0.58677	D	0.486586880830058	0.66304	4.933122	0.396929585345939	0.61376	4.336751	0.999996956823631	0.74766	0.646311	0.45356	0	0.547309	0.14657	0	0.645312	0.48771	0	0.562822	0.20929	0	.	.	5.17	4.18	0.48473	2.754000	0.47211	6.937000	0.56979	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.016000	0.10718	0.0:0.0:0.8492:0.1508	15.166	0.72515	649	0.63102	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	2162.11	33	chr9	130911831	.	G	C	2162.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.73;DP=961;ExcessHet=0.1072;FS=1.206;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=12.72;ReadPosRankSum=1.22;SOR=0.583	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:30,44:74:99:0|1:130911831_G_C:996,0,1108:130911831	19	0	2	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	0/1:57,75,0:132:99:1796,0,1327,1967,1551,3518	0	17	3	0
chr9	133256248	133256248	G	A	exonic	ABO	.	unknown	UNKNOWN,	.	.	421	1083	18	0	0	18	0.00824176	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0006	0.000599042	0.0012	0.0008	0.0008	0	0	0.0015	0.0047	0.0013	0.0010026	155	154602	rs200932155	0.0009	0.0009	0.0007	0.0010	0.0163	0.0008	0.0008	0.0136	0.0126	0.0008	0.0009	0.0067	2.519e-05	0	0.0163	0.0006	0.0017	0.0020	0.0008	0.0008	0.0008	0.0008	0.0021	0.0007	0.0007	0.0011	0.0009	0.0002	0	0.0010	0.0069	0	0	0.0136	0.0008	0.0043	0.0021	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	1715.98	45	chr9	133256248	.	G	A	1715.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.178;DP=1049;ExcessHet=0.0000;FS=2.964;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.14;ReadPosRankSum=0.365;SOR=0.988	GT:AD:DP:GQ:PL	0/1:85,69:154:99:1730,0,2122	20	0	1	0
chr9	134817038	134817038	C	T	exonic	COL5A1	.	nonsynonymous SNV	COL5A1:NM_000093:exon53:c.C4135T:p.P1379S	Ehlers-Danlos syndrome, classic type, Autosomal dominant	.	0	1464	57	1	0	59	0.0197523	.	.	140593	not_specified|Familial_thoracic_aortic_aneurysm_and_aortic_dissection|Ehlers-Danlos_syndrome_type_7A|Ehlers-Danlos_syndrome,_classic_type,_1|Fibromuscular_dysplasia,_multifocal|Ehlers-Danlos_syndrome|not_provided	MedGen:CN169374|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086,Orphanet:91387|MONDO:MONDO:0020521,MedGen:C3508773|MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000|MONDO:MONDO:0859151,MedGen:C5543412,OMIM:619329|MONDO:MONDO:0020066,MedGen:C0013720,OMIM:PS130000,Orphanet:98249|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.01	D	1.0	D	0.994	D	0.000	U	1.000	D	1.61	L	-5.05	D	0.942	D	0.939	D	0.216	3.701	18.80	4.97	2.304	5.945	16.795	0.658	.	0.0073	0.00399361	0.0074	0.0010	0.0054	0	0.0060	0.0098	0.0099	0.0077	0.0072379	1119	154602	rs61739195	0.0079	0.0079	0.0077	0.0080	0.0295	0.0077	0.0077	0.0259	0.0245	0.0013	0.0050	0.0245	2.519e-05	0.0062	0.0295	0.0080	0.0079	0.0075	0.0060	0.0060	0.0063	0.0058	0.0088	0.0057	0.0056	0.0082	0.0080	0.0011	0	0.0037	0.0219	0	0.0069	0.0238	0.0088	0.0147	0.0062	0.006	0.61437	D	0.012	0.64786	D	1.0	0.90584	D	0.994	0.82059	D	0.000000	0.84330	U	0.000000	1	0.81001	D	1.62	0.41497	L	-5.05	0.98611	D	-4.66	0.79482	D	0.577	0.61426	0.942	0.96269	D	0.939	0.97982	D	10	0.012166917	0.00262	T	.	.	.	0.658	0.87184	.	.	0.85845530583	0.85709	0.29242503868214725	0.29155	0.298742333184	0.32256	0.726237535477	0.70958	T	0.679392	0.90569	D	-0.207987	0.19665	T	-0.0598591	0.66342	T	0.0126543567457654	0.00212	T	0.892211	0.62852	D	0.37683263	0.59087	0.33475214	0.59297	0.38305777	0.59537	0.33015355	0.58887	-6.121	0.47281	T	0.6115994363276362	0.67924	0.556	0.67026	A	.;.	.;.	4.163591	0.62549	24.5	0.9968018547958577	0.79174	0.98929	0.88765	D	AEFBI	0.759279	0.69766	D	0.666279241900824	0.77424	6.672384	0.641604356597949	0.77986	6.786372	0.999999999999493	0.74766	0.706548	0.73137	0	0.659912	0.62753	0	0.645312	0.48771	0	0.714379	0.83352	0	.	.	4.97	4.97	0.65419	4.850000	0.62587	4.778000	0.44817	0.589000	0.31548	1.000000	0.71638	1.000000	0.68203	0.902000	0.43815	0.0:1.0:0.0:0.0	16.795	0.85462	827	0.39843	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.02381	1547.98	95	chr9	134817038	.	C	T	1547.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.310;DP=1555;ExcessHet=0.0000;FS=3.962;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.06;ReadPosRankSum=-4.910e-01;SOR=0.918	GT:AD:DP:GQ:PL	0/1:74,66:140:99:1562,0,1783	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	0/1:64,89:153:99:2124,0,1512	18	0	3	0
chr9	136953874	136953874	C	T	exonic	LCN12	.	nonsynonymous SNV	LCN12:NM_178536:exon4:c.C358T:p.R120W,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.999	D	0.971	D	0.451	N	1.000	N	1.3	L	3.2	T	-1.067	T	0.041	T	0.312	2.356	13.84	1.51	0.561	0.333	8.621	0.051	0.0254161898031	0.0002	.	8.899e-05	0.0006	0	0.0002	0	0	0	0.0002	4.53e-05	7	154602	rs199664164	2.202e-05	2.257e-05	2.052e-05	2.354e-05	0.0002	1.594e-05	1.364e-05	5.861e-05	3.765e-05	0.0001	0	0	2.539e-05	1.931e-05	0.0002	1.353e-05	6.663e-05	5.893e-05	3.943e-05	3.94e-05	7.71e-05	0	0.0001	1.716e-05	1.13e-05	6.286e-05	4.302e-05	0.0001	0	0	0	0	0	0	0	0	0	0.002	0.72154	D	0.01	0.65728	D	0.999	0.77913	D	0.938	0.67350	D	0.450918	0.12508	N	0.598164	1	0.08975	N	1.915	0.51223	L	3.2	0.07236	T	-5.01	0.82450	D	0.22	0.24634	-1.0669	0.10108	T	0.041	0.17785	T	10	0.22615185	0.39463	T	0.025416	0.48390	D	0.051	0.14325	.	.	0.405422107966	0.40158	0.7037286149950095	0.70313	0.530923129554	0.50614	0.285827457905	0.08318	T	0.04865	0.28079	T	-0.411199	0.01951	T	-0.538292	0.18465	T	0.911412596702576	0.56697	D	0.506949	0.16072	T	0.25148207	0.48157	0.20582154	0.44768	0.25148207	0.48157	0.20582154	0.44767	-4.16	0.26170	T	.	.	0.074	0.05188	B	.	.	1.920309	0.24388	16.38	0.99747678953076913	0.84002	0.02301	0.06614	N	AEFGBI	0.146033	0.26938	N	-0.359909058263808	0.26910	1.472342	-0.616413921714482	0.19071	1.02165	0.965396413368758	0.28828	0.700653	0.57754	0	0.588066	0.40923	0	0.717052	0.78885	0	0.562822	0.20929	0	.	.	2.45	1.51	0.22094	-0.030000	0.12257	1.293000	0.25425	-0.237000	0.07570	0.000000	0.06391	0.001000	0.17328	0.000000	0.00833	0.229:0.771:0.0:0.0	8.621	0.33023	912	0.21483	Lipocalin/cytosolic fatty-acid 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	1	0	0	0	0.02381	1183.98	43	chr9	136953874	.	C	T	1183.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.76;DP=885;ExcessHet=0.0000;FS=0.904;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.58;ReadPosRankSum=-2.378e+00;SOR=0.886	GT:AD:DP:GQ:PL	0/1:32,44:76:99:1198,0,699	20	0	1	0
chr9	137066267	137066267	C	T	exonic	SAPCD2	.	nonsynonymous SNV	SAPCD2:NM_178448:exon2:c.G679A:p.G227S,	.	.	418	1099	5	0	0	5	0.00226963	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.59	T	0.003	B	0.003	B	0.006	N	0.881	N	0.205	N	-1.24	T	-0.965	T	0.185	T	0.116	0.182	4.982	2.0	0.306	0.585	8.069	0.106	0.106269634642	0.0009	.	0.0013	0	0.0002	0	0	0.0018	0	0.0017	0.0006533	101	154602	rs141130282	0.0009	0.0009	0.0008	0.0009	0.0049	0.0008	0.0008	0.0033	0.0028	0.0004	0.0001	0.0041	0	3.929e-05	0.0049	0.0008	0.0011	0.0014	0.0006	0.0006	0.0007	0.0006	0.0009	0.0005	0.0005	0.0008	0.0007	0.0001	0	0.0004	0.0037	0	0	0.0068	0.0009	0.0019	0.0008	0.555	0.06482	T	0.529	0.10138	T	0.003	0.11197	B	0.003	0.08700	B	0.005522	0.32720	N	0.244948	0.881192	0.28046	N	0.77	0.19370	N	-1.24	0.78967	T	-0.69	0.19720	N	0.165	0.17416	-0.9648	0.38250	T	0.185	0.53436	T	10	0.006007552	0.00135	T	0.10627	0.78179	D	0.106	0.30130	.	.	0.207176502487	0.20327	0.11879052694946	0.11806	0.336465546684	0.35643	0.628489375114	0.56930	T	0.049946	0.28454	T	-0.451242	0.01111	T	-0.461487	0.26436	T	0.0121190866866525	0.00193	T	0.70043	0.31009	T	0.030807039	0.02807	0.05218553	0.08547	0.030807039	0.02807	0.05218553	0.08546	-4.681	0.33173	T	.	.	0.077	0.06525	B	.	.	1.256200	0.16537	12.60	0.91076469012777472	0.20328	0.12138	0.17083	N	AEFGBI	0.077421	0.15599	N	-1.13469283955611	0.06036	0.2767785	-1.08305480667273	0.08034	0.3932766	0.999985831689783	0.51787	0.700653	0.57754	0	0.694456	0.67091	0	0.717052	0.78885	0	0.699875	0.68795	0	.	.	3.88	2.0	0.25495	0.269000	0.18354	0.315000	0.17124	-0.191000	0.09375	0.000000	0.06391	0.019000	0.20708	0.670000	0.33251	0.0:0.7084:0.0:0.2916	8.069	0.29841	.	.	.	.	.	.	.	.	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	0.025	230.33	30	chr9	137066267	.	C	T	230.33	.	AC=1;AF=0.025;AN=40;BaseQRankSum=1.08;DP=656;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0256;MLEAC=1;MLEAF=0.025;MQ=60.00;MQRankSum=0.00;QD=7.68;ReadPosRankSum=0.837;SOR=0.495	GT:AD:DP:GQ:PL	0/1:20,10:30:99:244,0,509	19	0	1	1
chr9	137214269	137214269	G	A	exonic	NDOR1	.	nonsynonymous SNV	NDOR1:NM_001144027:exon5:c.G476A:p.R159Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.63	T	0.001	B	0.001	B	0.930	N	1.000	N	-0.345	N	-1.61	D	-0.896	T	0.184	T	0.081	1.539	11.10	-8.87	-2.048	-4.714	7.327	0.190	0.0958609551469	.	.	8.334e-06	0	0	0	0	1.519e-05	0	0	6.5e-06	1	154602	rs758562274	6.843e-06	6.84e-06	6.809e-06	6.877e-06	0.0001	3.46e-06	2.52e-06	3.348e-05	1.981e-05	0	2.236e-05	0	0.0001	0	0	4.496e-06	0	0	1.971e-05	1.97e-05	0	4.035e-05	0.0002	5.24e-06	2.45e-06	.	.	2.413e-05	0	0	0	0	0	0	1.47e-05	0	0.0002	0.614	0.05720	T	0.607	0.07972	T	0.001	0.07471	B	0.001	0.04355	B	0.930429	0.07532	N	1.037760	1	0.08975	N	0.345	0.11182	N	-1.61	0.82254	D	-0.19	0.09965	N	0.129	0.13484	-0.8959	0.48399	T	0.184	0.53255	T	10	0.043741763	0.03256	T	0.095861	0.76502	D	0.190	0.46781	0.183	0.09131	0.369867359543	0.36593	0.23494764652057049	0.23409	0.215602792781	0.24092	0.211733281612	0.00887	T	0.003663	0.03070	T	-0.219785	0.18022	T	-0.553482	0.16992	T	0.0598706339798982	0.07149	T	0.469153	0.14745	T	0.019606765	0.00495	0.022694817	0.00289	0.019606765	0.00495	0.022694817	0.00289	-2.552	0.10887	T	.	.	0.070	0.04119	B	.;.;.;.	.;.;.;.	-1.330209	0.00413	0.008	0.85135201823450135	0.15706	0.02339	0.06686	N	AEFBI	0.044953	0.07294	N	-1.88816080995009	0.00363	0.01560184	-1.9711344293892	0.00352	0.01554222	0.999999981867439	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.723109	0.80598	0	0.655142	0.61905	0	.	.	4.43	-8.87	0.00682	-4.523000	0.00254	-4.392000	0.02180	-0.941000	0.02090	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.3066:0.3215:0.3718:0.0	7.327	0.25733	988	0.01987	.;.;.;.	.	.	.	.	.	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	2612.98	34	chr9	137214269	.	G	A	2612.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.81;DP=932;ExcessHet=0.0000;FS=2.843;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.84;ReadPosRankSum=-1.690e-01;SOR=0.968	GT:AD:DP:GQ:PL	0/1:69,96:165:99:2627,0,1615	20	0	1	0
chr9	138023404	138023404	-	CCGCAC	exonic	CACNA1B	.	nonframeshift insertion	CACNA1B:NM_000718:exon19:c.2661_2662insCCGCAC:p.H889_R890insPH	.	.	.	.	.	.	.	.	.	.	.	1636168	CACNA1B-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1200621914	0.0001	0.0001	0.0001	0.0001	0.0050	0.0001	9.912e-05	0.0043	0.0040	0.0050	0.0003	0	0	0	0.0003	7.113e-06	0.0004	0	0.0013	0.0013	0.0013	0.0013	0.0046	0.0012	0.0011	0.0040	0.0038	0.0046	0	0.0004	0	0	0	0	2.962e-05	0.0005	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	552.78	14	chr9	138023404	.	G	GCCGCAC	552.78	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.82;DP=419;ExcessHet=0.0000;FS=6.701;InbreedingCoeff=-0.1841;MLEAC=2;MLEAF=0.167;MQ=60.00;MQRankSum=0.00;QD=23.03;ReadPosRankSum=-2.060e-01;SOR=1.108	GT:AD:DP:GQ:PL	0/1:10,14:24:99:557,0,360	5	0	1	15
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	0/1:56,34,0:90:99:.:.:716,0,1397,884,1498,2382	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	0/1:78,32:110:99:295,0,1278	5	0	16	0
chr10	5641946	5641946	G	A	exonic	ASB13	.	nonsynonymous SNV	ASB13:NM_024701:exon5:c.C533T:p.A178V,	.	.	426	1095	1	0	0	1	0.000456413	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.23	T	0.977	D	0.64	P	0.000	D	1.000	D	1.145	L	0.51	T	-0.920	T	0.171	T	0.684	4.243	22.1	4.83	2.721	7.387	15.871	0.131	0.014660083346	7.7e-05	0.000199681	0.0012	0	0	0	0.0096	0.0011	0.0022	0	0.0009638	149	154602	rs199941400	0.0005	0.0005	0.0005	0.0005	0.0002	0.0004	0.0004	0.0001	0.0001	6.004e-05	4.485e-05	3.838e-05	2.539e-05	0.0086	0.0002	0.0002	0.0006	1.162e-05	0.0010	0.0010	0.0005	0.0015	0.0005	0.0008	0.0008	0.0004	0.0003	0	0	6.541e-05	0	0	0.0103	0	0.0005	0	0.0002	0.027	0.46513	D	0.213	0.26467	T	0.977	0.58535	D	0.64	0.52082	P	0.000000	0.84330	D	0.000000	1	0.81001	D	0.95	0.23787	L	0.51	0.55439	T	-2.25	0.50337	N	0.646	0.65758	-0.9204	0.45499	T	0.171	0.51213	T	10	0.011765331	0.00256	T	0.01466	0.34921	T	0.131	0.35738	.	.	0.649314703251	0.64640	0.4402413671244039	0.43941	0.403524095791	0.41286	0.70527613163	0.67908	T	0.120864	0.44341	T	-0.24421	0.14817	T	-0.128494	0.61100	T	0.192447766661644	0.19988	T	0.980469	0.93342	D	0.2610001	0.49157	0.17449296	0.39848	0.2610001	0.49157	0.17449296	0.39848	-8.423	0.63918	D	.	.	0.391	0.59068	A	.	.	4.996975	0.82880	27.9	0.99902638090194851	0.97426	0.97974	0.78556	D	AEFBI	0.852430	0.76934	D	0.47134753073071	0.65424	4.820774	0.502528748765835	0.68161	5.181968	0.999999448924035	0.74766	0.706298	0.61202	0	0.610034	0.51514	0	0.709663	0.75317	0	0.635551	0.53088	0	.	.	5.76	4.83	0.61880	7.487000	0.80243	11.741000	0.95195	0.613000	0.49114	1.000000	0.71638	1.000000	0.68203	0.631000	0.32184	0.0:0.0:0.8639:0.1361	15.871	0.78898	925	0.17918	Ankyrin repeat-containing domain|Ankyrin repeat-containing domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1429.98	36	chr10	5641946	.	G	A	1429.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.870e-01;DP=799;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.07;ReadPosRankSum=0.618;SOR=0.793	GT:AD:DP:GQ:PL	0/1:38,51:89:99:1444,0,1012	20	0	1	0
chr10	7585994	7585994	G	A	exonic	ITIH5	.	nonsynonymous SNV	ITIH5:NM_032817:exon4:c.C373T:p.R125W	.	.	429	1075	17	1	0	19	0.0087598	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	1.0	D	1.0	D	0.000	D	0.998	D	.	.	-1.78	D	0.566	D	0.720	D	0.765	3.831	19.45	5.3	2.474	4.095	15.338	0.678	0.133894884645	0.0009	0.00159744	0.0015	0.0003	0.0006	0	0.0002	0.0010	0.0011	0.0064	0.0013971	216	154602	rs145334714	0.0012	0.0012	0.0009	0.0014	0.0070	0.0011	0.0011	0.0065	0.0064	0.0004	0.0007	0.0026	2.519e-05	5.616e-05	0.0040	0.0008	0.0015	0.0070	0.0009	0.0009	0.0008	0.0010	0.0081	0.0007	0.0007	0.0061	0.0054	0.0001	0	0.0006	0.0026	0	0	0	0.0009	0.0038	0.0081	0.004	0.68238	D	0.003	0.79402	D	1.0	0.90584	D	0.988	0.77976	D	0.000014	0.62929	D	0.113317	0.998001	0.44406	D	.	.	.	-1.78	0.83737	D	-4.45	0.77717	D	0.694	0.70527	0.566	0.91455	D	0.720	0.90397	D	9	0.019502044	0.00436	T	0.133895	0.81629	D	0.678	0.88157	.	.	0.774079430207	0.77200	0.7079729579848768	0.70739	.	.	0.463453710079	0.33784	T	0.118095	0.56548	T	-0.0936097	0.37480	T	0.0957884	0.76629	D	0.0508527668238195	0.05649	T	0.968903	0.90093	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.219	0.44986	B	.;.;.	.;.;.	5.555232	0.92087	32	0.99925838954833979	0.99042	0.92848	0.56693	D	AEFDBI	0.887551	0.81990	D	0.63415965453951	0.75347	6.289897	0.624923950025716	0.76756	6.54977	0.649678445123754	0.22148	0.615465	0.37627	0	0.59043	0.45803	0	0.658983	0.55881	0	0.564101	0.26826	0	.	.	5.3	5.3	0.74745	4.205000	0.58265	9.769000	0.81545	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.909000	0.44452	0.0:0.0:0.8599:0.1401	15.338	0.73989	964	0.07719	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	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	968.98	38	chr10	7585994	.	G	A	968.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.33;DP=902;ExcessHet=0.0000;FS=1.648;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.79;ReadPosRankSum=0.278;SOR=0.535	GT:AD:DP:GQ:PL	0/1:59,40:99:99:983,0,1476	20	0	1	0
chr10	22003351	22003351	-	TG	exonic	DNAJC1	.	frameshift insertion	DNAJC1:NM_022365:exon1:c.83_84insCA:p.T29Rfs*31,	.	.	291	1219	11	1	0	13	0.00530396	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000399361	0.0026	0	0	0	0	0	0	0.0047	0.0001537	4	26028	rs575609970	0.0011	0.0011	0.0009	0.0014	0.0098	0.0011	0.0011	0.0091	0.0089	4.028e-05	0.0001	0	0	0.0007	0.0049	0.0007	0.0014	0.0098	0.0008	0.0008	0.0006	0.0010	0.0097	0.0007	0.0006	0.0075	0.0067	0.0001	0	6.538e-05	0	0	0.0003	0.0103	0.0009	0.0005	0.0097	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	333.94	34	chr10	22003351	.	C	CTG	333.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.140e-01;DP=723;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=7.95;ReadPosRankSum=1.05;SOR=0.733	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:31,11:42:99:0|1:22003351_C_CTG:348,0,1145:22003351	20	0	1	0
chr10	22003352	22003352	-	G	exonic	DNAJC1	.	frameshift insertion	DNAJC1:NM_022365:exon1:c.82dupC:p.R28Pfs*30,	.	.	301	1208	11	1	1	14	0.005352	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0037	0	0	0	0	0	0	0.0068	0.0001921	5	26028	.	0.0011	0.0011	0.0009	0.0014	0.0101	0.0011	0.0011	0.0094	0.0091	4.053e-05	0.0001	0	0	0.0007	0.0050	0.0007	0.0014	0.0101	0.0008	0.0008	0.0006	0.0010	0.0095	0.0007	0.0006	0.0073	0.0066	0.0001	0	6.549e-05	0	0	0.0003	0.0103	0.0009	0.0005	0.0095	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	333.94	34	chr10	22003352	.	C	CG	333.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-9.090e-01;DP=723;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=7.95;ReadPosRankSum=1.25;SOR=0.733	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:31,11:42:99:0|1:22003351_C_CTG:348,0,1145:22003351	20	0	1	0
chr10	27186516	27186516	G	A	exonic	MASTL	.	nonsynonymous SNV	MASTL:NM_001172304:exon11:c.G2503A:p.V835I	.	.	0	1473	47	2	0	51	0.017017	.	.	712315	not_provided|Thrombocytopenia_2|Thrombocytopenia	MedGen:C3661900|MONDO:MONDO:0008555,MedGen:C1861185,OMIM:188000,Orphanet:268322|Human_Phenotype_Ontology:HP:0001873,Human_Phenotype_Ontology:HP:0001906,Human_Phenotype_Ontology:HP:0004838,Human_Phenotype_Ontology:HP:0008175,Human_Phenotype_Ontology:HP:0008268,Human_Phenotype_Ontology:HP:0008302,MONDO:MONDO:0002049,MeSH:D013921,MedGen:C0040034	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.23	T	0.031	B	0.026	B	0.000	N	0.999	D	0.895	L	-0.11	T	-0.999	T	0.126	T	0.102	2.413	14.03	2.79	0.320	2.168	10.103	0.078	0.00997056963759	0.0037	0.00139776	0.0044	0.0013	0.0016	0.0001	0.0002	0.0055	0.0077	0.0075	0.0040491	626	154602	rs138288481	0.0048	0.0048	0.0048	0.0049	0.0072	0.0047	0.0047	0.0067	0.0065	0.0012	0.0019	0.0121	2.52e-05	0.0002	0.0061	0.0050	0.0058	0.0072	0.0036	0.0036	0.0036	0.0035	0.0077	0.0033	0.0032	0.0057	0.0050	0.0011	0.0022	0.0033	0.0136	0	0.0004	0.0102	0.0051	0.0028	0.0077	0.203	0.20154	T	0.171	0.30339	T	0.011	0.20130	B	0.016	0.20792	B	0.000006	0.62929	N	0.106801	0.996275	0.45878	D	1.53	0.38800	L	-0.28	0.67543	T	-0.34	0.13805	N	0.061	0.08366	-0.9986	0.30311	T	0.126	0.43112	T	10	0.0049705505	0.00107	T	0.009971	0.25946	T	0.078	0.22779	.	.	0.371531589858	0.36766	0.1272268554561651	0.12648	0.0910169347132	0.10278	0.316755950451	0.12930	T	0.006687	0.06116	T	-0.498078	0.00586	T	-0.483104	0.24118	T	0.00412092111472847	0.00044	T	0.812919	0.48860	T	0.019913116	0.00533	0.0360601	0.02977	0.019913116	0.00532	0.0360601	0.02977	-5.82	0.52231	T	.	.	0.073	0.07697	B	.;.;.;.	.;.;.;.	1.094405	0.14780	11.32	0.95402752632936616	0.26857	0.91252	0.53159	D	AEFBI	0.103222	0.20687	N	-0.449366988897339	0.23761	1.278292	-0.341345716934986	0.26776	1.481296	0.146633193900005	0.17370	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.711	0.71501	0	.	.	5.63	2.79	0.31792	2.239000	0.42728	0.193000	0.15765	0.656000	0.54149	0.995000	0.38783	0.001000	0.17328	0.935000	0.47363	0.2174:0.0:0.7826:0.0	10.103	0.41688	804	0.43891	.;AGC-kinase, C-terminal;.;AGC-kinase, 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	1951.98	60	chr10	27186516	.	G	A	1951.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.486;DP=1226;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=18.59;ReadPosRankSum=0.298;SOR=0.675	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:54,51:105:99:0|1:27186515_T_C:1966,0,2114:27186515	20	0	1	0
chr10	27398709	27398709	C	T	exonic	PTCHD3	.	nonsynonymous SNV	PTCHD3:NM_001034842:exon4:c.G1889A:p.R630Q,	.	.	431	1076	15	0	0	15	0.00692201	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.57	T	0.149	B	0.19	B	0.139	N	0.994	N	1.155	L	-1.95	D	-0.750	T	0.392	T	0.099	2.610	14.69	2.27	0.391	2.045	5.686	0.189	0.0266652623105	0.0022	0.000599042	0.0030	0.0011	0.0005	0.0001	0.0038	0.0045	0.0033	0.0010	0.002943	455	154602	rs142594066	0.0032	0.0032	0.0032	0.0032	0.0047	0.0031	0.0031	0.0036	0.0035	0.0006	0.0011	0.0029	0	0.0034	0.0047	0.0037	0.0024	0.0014	0.0029	0.0029	0.0031	0.0027	0.0042	0.0027	0.0026	0.0038	0.0036	0.0007	0.0625	0.0011	0.0029	0.0002	0.0035	0	0.0042	0.0014	0.0010	0.219	0.19023	T	0.016	0.60972	D	0.149	0.27956	B	0.19	0.36341	B	0.138750	0.18367	N	0.525534	0.994326	0.23542	N	1.985	0.53793	M	-1.95	0.85003	D	-1.85	0.43334	N	0.086	0.06322	-0.7500	0.57935	T	0.392	0.74604	T	10	0.006129205	0.00138	T	0.026665	0.49557	D	0.189	0.46613	.	.	0.101711395817	0.09552	.	.	0.231880388062	0.25740	0.257836341858	0.04637	T	0.154528	0.49586	T	-0.422881	0.01640	T	-0.379262	0.35809	T	0.0235528033775159	0.01090	T	.	.	.	0.2875486	0.51764	0.27809125	0.53767	0.2875486	0.51764	0.27809125	0.53766	-6.5	0.50286	T	.	.	0.111	0.21728	B	.	.	3.525187	0.49431	22.8	0.99896517186797917	0.96971	0.47811	0.28066	N	AEFI	0.053810	0.09728	N	-0.405525720027494	0.25274	1.37082	-0.324640407592278	0.27304	1.514204	3.20851712304101E-4	0.06498	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	4.19	2.27	0.27501	2.775000	0.47387	-3.295000	0.02898	0.469000	0.21855	1.000000	0.71638	0.000000	0.08366	0.997000	0.79791	0.0:0.6582:0.1627:0.1791	5.686	0.17077	449	0.79428	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1836.98	98	chr10	27398709	.	C	T	1836.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.013;DP=1958;ExcessHet=0.0000;FS=2.048;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.33;ReadPosRankSum=1.01;SOR=0.527	GT:AD:DP:GQ:PL	0/1:75,74:149:99:1851,0,1889	20	0	1	0
chr10	30029846	30029846	G	A	exonic	JCAD	.	nonsynonymous SNV	JCAD:NM_020848:exon3:c.C302T:p.S101L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.38	T	0.0	B	0.0	B	0.931	N	1.000	N	-1.085	N	3.2	T	-0.932	T	0.007	T	0.113	-0.771	0.756	-1.21	-0.485	2.092	1.907	0.060	0.00382465534252	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.842e-07	6.84e-07	0	1.375e-06	8.994e-07	0	0	.	.	0	0	0	0	0	0	8.994e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	0.355	0.17217	T	0.0	0.02946	B	0.0	0.01387	B	0.930644	0.08423	N	0.965661	1	0.08975	N	-1.01	0.01154	N	3.2	0.07236	T	2.74	0.00182	N	0.091	0.06990	-0.9324	0.43785	T	0.007	0.02282	T	10	0.0328483	0.01446	T	0.003825	0.08930	T	0.060	0.17295	0.297	0.26202	0.0611884634855	0.05136	0.07292770788044417	0.07229	0.137584547776	0.15513	0.268727183342	0.05975	T	0.002115	0.01518	T	-0.327261	0.06322	T	-0.707864	0.05406	T	0.0892663174117787	0.11129	T	0.664534	0.27348	T	0.01780344	0.00304	0.018287892	0.00051	0.01780344	0.00304	0.018287892	0.00051	-4.499	0.30876	T	.	.	0.063	0.01449	B	.	.	-0.211827	0.03032	0.464	0.61258932408167888	0.06664	0.00542	0.02495	N	AEFDBI	0.060821	0.11585	N	-1.48593369973156	0.01948	0.08555971	-1.42747118205719	0.02980	0.138163	0.998582141664581	0.37247	0.730579	0.87903	0	0.59043	0.45803	0	0.547309	0.15389	0	0.648885	0.59868	0	.	.	5.39	-1.21	0.09033	1.716000	0.37601	1.436000	0.26487	-0.633000	0.04490	0.006000	0.17386	0.151000	0.23179	0.000000	0.00833	0.4802:0.1245:0.2751:0.1202	1.907	0.03080	975	0.05339	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1484.98	34	chr10	30029846	.	G	A	1484.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.15;DP=900;ExcessHet=0.0000;FS=6.256;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.56;ReadPosRankSum=-5.600e-01;SOR=1.463	GT:AD:DP:GQ:PL	0/1:54,48:102:99:1499,0,1546	20	0	1	0
chr10	42820245	42820245	G	A	exonic	BMS1	.	nonsynonymous SNV	BMS1:NM_014753:exon16:c.G2590A:p.A864T,	.	.	434	1062	24	2	0	28	0.0130112	.	.	3221913	BMS1-related_disorder	.	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.25	T	0.452	B	0.055	B	0.000	D	0.766	N	1.345	L	2.3	T	-1.111	T	0.000	T	0.268	1.588	11.27	5.05	2.352	3.884	13.840	0.080	.	.	0.0413339	0.0214	0.0005	0.0012	0.1068	0.0366	0.0036	0.0234	0.0699	0.0188031	2907	154602	rs117641896	0.0099	0.0099	0.0083	0.0115	0.1394	0.0097	0.0097	0.1363	0.1350	0.0002	0.0008	0.0041	0.1394	0.0317	0.0056	0.0008	0.0111	0.0644	0.0098	0.0099	0.0066	0.0132	0.1098	0.0094	0.0092	0.1023	0.0993	0.0003	0	0.0005	0.0032	0.1098	0.0323	0.0068	0.0021	0.0104	0.0806	0.153	0.24372	T	0.2	0.27591	T	0.452	0.36118	B	0.055	0.25995	B	0.000043	0.53742	D	0.122857	0.765727	0.29491	N	.	.	.	2.3	0.16953	T	-0.78	0.21644	N	0.234	0.26354	-1.1110	0.02985	T	0.000	0.00114	T	10	0.0021870434	0.00032	T	.	.	.	0.080	0.23350	.	.	.	.	0.3486463334772223	0.34778	0.245553725906	0.27076	0.558945655823	0.47119	T	0.006068	0.05507	T	-0.643963	0.00079	T	-0.553965	0.16947	T	0.0288878418279347	0.01820	T	0.750625	0.37241	T	0.059695754	0.12161	0.10918052	0.26309	0.059695754	0.12161	0.10918052	0.26308	-5.531	0.42157	T	.	.	0.094	0.14431	B	.	.	1.724231	0.21947	15.42	0.9888946252360642	0.47984	0.93020	0.57124	D	AEFBI	0.345743	0.44079	N	-0.0387931629623697	0.40105	2.37605	0.0539609993363731	0.42265	2.553303	0.400599700177465	0.20127	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.05	5.05	0.67566	4.047000	0.57095	.	.	-0.803000	0.03144	0.979000	0.35152	1.000000	0.68203	0.053000	0.15439	0.0765:0.0:0.9235:0.0	13.840	0.62931	867	0.32089	Ribosome biogenesis protein BMS1/TSR1, C-terminal|Ribosome biogenesis protein BMS1/TSR1, C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	1401.11	37	chr10	42820245	.	G	A	1401.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.44;DP=834;ExcessHet=0.1072;FS=4.689;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=59.96;MQRankSum=0.00;QD=11.21;ReadPosRankSum=-1.126e+00;SOR=1.164	GT:AD:DP:GQ:PL	0/1:42,30:72:99:852,0,1157	19	0	2	0
chr10	43206023	43206023	C	T	exonic	RASGEF1A	.	nonsynonymous SNV	RASGEF1A:NM_001282862:exon2:c.G118A:p.G40S	.	.	421	1075	1	0	25	26	0.0004649	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.43	T	0.0	B	0.0	B	0.141	N	1.000	N	-0.69	N	-0.26	T	-1.106	T	0.002	T	0.105	-1.042	0.205	-6.04	-1.256	-0.577	7.288	0.038	.	0.0012	0.0355431	0.0223	0.0034	0.0008	0.1112	0.0296	0.0023	0.0198	0.0691	0.0154461	2388	154602	rs117610424	0.0082	0.0082	0.0068	0.0096	0.1059	0.0081	0.0080	0.1032	0.1021	0.0013	0.0005	0.0029	0.1059	0.0217	0.0057	0.0005	0.0106	0.0612	0.0086	0.0087	0.0062	0.0112	0.0964	0.0082	0.0081	0.0895	0.0867	0.0020	0	0.0012	0.0032	0.0964	0.0240	0.0034	0.0014	0.0061	0.0702	0.714	0.04032	T	0.728	0.05221	T	0.0	0.02946	B	0.0	0.01387	B	0.141388	0.02889	N	1.688360	1	0.08975	N	0	0.06538	N	-0.29	0.67712	T	0.34	0.03955	N	0.077	0.05162	-1.1060	0.03437	T	0.002	0.00526	T	10	0.0016499162	0.00020	T	.	.	.	0.038	0.09825	.	.	.	.	0.1659222229049595	0.16512	0.724846526864	0.62416	0.330052435398	0.14942	T	0.00418	0.03591	T	-0.626039	0.00101	T	-0.59456	0.13274	T	0.000216800669837077	0.00001	T	0.377862	0.09347	T	0.026439305	0.01702	0.038807113	0.03831	0.026439305	0.01702	0.038807113	0.03830	-4.742	0.34916	T	.	.	0.084	0.09675	B	.;.;.	.;.;.	-0.177307	0.03209	0.533	0.54145436056785945	0.05079	0.07866	0.13857	N	AEFBI	0.068383	0.13486	N	-1.7530624372783	0.00670	0.0289256	-1.79795619577989	0.00766	0.03414931	0.999932391636118	0.46732	0.554377	0.28877	0	0.59043	0.45803	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	3.68	-6.04	0.01995	-0.579000	0.05927	-5.905000	0.01557	-0.773000	0.03420	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.1782:0.1384:0.6834	7.288	0.25522	851	0.35303	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1768.98	39	chr10	43206023	.	C	T	1768.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.57;DP=816;ExcessHet=0.0000;FS=0.749;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=17.87;ReadPosRankSum=0.025;SOR=0.591	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:52,47:99:99:0|1:43206023_C_T:1783,0,1974:43206023	20	0	1	0
chr10	47468891	47468891	C	G	exonic	ANXA8	.	nonsynonymous SNV	ANXA8:NM_001271703:exon10:c.G754C:p.D252H	.	.	439	1080	3	0	0	3	0.00138696	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1337742244	0.0020	0.0021	0.0021	0.0019	0.0157	0.0020	0.0019	0.0146	0.0142	0.0157	0.0075	0.0177	0	0	0.0077	0.0012	0.0047	9.308e-05	0.0059	0.0061	0.0060	0.0057	0.0157	0.0056	0.0054	0.0147	0.0143	0.0157	0	0.0059	0.0199	0	0	0.0034	0.0010	0.0081	0.0002	.	.	.	0.023	0.92824	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.64	0.04309	T	.	.	.	0.509	0.55540	.	.	.	.	.	.	.	0.025236517	0.00724	T	.	.	.	.	.	.	.	.	.	0.6907784856670935	0.69017	.	.	.	.	.	0.105448	0.44173	T	.	.	.	.	.	.	.	.	.	0.953405	0.84374	D	.	.	.	.	.	.	.	.	-5.384	0.42526	T	.	.	0.447	0.64362	A	.;.;.;.	.;.;.;.	3.639447	0.51593	23.1	.	.	.	.	.	.	0.214345	0.33982	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.093000	0.49912	4.283000	0.42887	0.306000	0.19039	0.989000	0.36753	0.999000	0.35428	0.064000	0.16252	.	.	.	.	.	Annexin repeat, conserved site;Annexin repeat, conserved site;.;Annexin repeat, conserved site	.	.	.	.	.	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	1734.98	38	chr10	47468891	.	C	G	1734.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.42;DP=984;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=51.84;MQRankSum=6.75;QD=7.64;ReadPosRankSum=-1.079e+00;SOR=0.665	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:148,79:227:99:0|1:47468891_C_G:1749,0,5021:47468891	20	0	1	0
chr10	49132145	49132145	C	T	exonic	FAM170B	.	nonsynonymous SNV	FAM170B:NM_001164484:exon2:c.G320A:p.C107Y,	.	.	434	1014	71	3	0	77	0.0365796	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.12	T	0.627	P	0.255	B	0.070	N	1.000	N	1.445	L	0.99	T	-1.058	T	0.050	T	0.231	0.232	5.254	0.695	0.271	0.435	1.061	0.056	.	0.0059	0.0325479	0.0536	0.0125	0.0049	0.0033	0	0.0094	0.0309	0.1208	0.0091331	1412	154602	rs41280539	0.0098	0.0094	0.0066	0.0130	0.1154	0.0096	0.0096	0.1134	0.1126	0.0159	0.0063	0.0220	0.0037	0	0.0479	0.0019	0.0137	0.1154	0.0099	0.0099	0.0080	0.0118	0.1161	0.0094	0.0093	0.1082	0.1050	0.0128	0.0329	0.0054	0.0271	0.0015	9.411e-05	0.0238	0.0023	0.0132	0.1161	0.117	0.28271	T	0.183	0.29153	T	0.627	0.40110	P	0.255	0.39216	B	0.070243	0.21551	N	0.438857	1	0.08975	N	1.89	0.50145	L	0.99	0.41750	T	-1.48	0.36189	N	0.078	0.05287	-1.0581	0.12235	T	0.050	0.21456	T	10	0.0017475188	0.00022	T	.	.	.	0.056	0.15993	.	.	.	.	0.36407451914370714	0.36321	.	.	0.465958029032	0.34127	T	0.011081	0.09929	T	-0.607948	0.00130	T	-0.549335	0.17389	T	0.00768038339090971	0.00089	T	0.523848	0.17156	T	0.07181237	0.15928	0.122336216	0.29510	0.07181237	0.15927	0.122336216	0.29509	-3.745	0.19985	T	.	.	0.210	0.43707	B	.	.	1.883759	0.23925	16.20	0.83146344675201278	0.14567	0.04853	0.10588	N	AEFDBCI	0.045601	0.07476	N	-0.557464624572793	0.20250	1.066141	-0.675040824452409	0.17586	0.9357502	0.99684125480696	0.35056	0.497415	0.19182	0	0.547309	0.14657	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.12	0.695	0.17231	0.530000	0.22742	0.576000	0.19656	0.596000	0.33519	0.000000	0.06391	0.000000	0.08366	0.327000	0.25133	0.1854:0.4277:0.1803:0.2066	1.061	0.01500	.	.	.	.	.	.	.	.	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	0.04762	2333.11	72	chr10	49132145	.	C	T	2333.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.44;DP=1343;ExcessHet=0.1072;FS=1.612;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=10.10;ReadPosRankSum=-6.290e-01;SOR=0.572	GT:AD:DP:GQ:PL	0/1:77,50:127:99:1280,0,1989	19	0	2	0
chr10	50104144	50104144	G	C	splicing	WASHC2A	NM_001291398:exon18:c.1737+1G>C;NM_001330102:exon18:c.1737+1G>C;NM_001005751:exon18:c.1737+1G>C	.	.	.	.	.	.	.	.	.	.	.	1.0000	0.75	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.000	D	.	.	.	.	.	.	.	.	.	1.001	9.087	3.2	1.510	4.613	10.264	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0.0025	0.0002	0.0002	0.0003	0.0002	0.0002	0.0003	0.0003	9.413e-05	0	0.0001	2.532e-05	1.95e-05	0.0003	0.0003	5.495e-05	6.154e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.00234647	0.51330	T	-0.241147	0.50686	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.;.;.	.;.;.;.;.	5.902203	0.94003	33	0.97352760042827002	0.33529	0.93131	0.57407	D	AEFI	.	.	.	0.701995888035694	0.79764	7.146901	0.445472292793738	0.64426	4.697596	7.07449565220211E-5	0.04366	0.164513	0.03853	0	0.195528	0.04277	0	0.078618	0.02440	0	0.221052	0.04502	0	0.694248	0.42717	3.2	3.2	0.35826	5.024000	0.63865	11.562000	0.93235	0.461000	0.21595	1.000000	0.71638	1.000000	0.68203	0.951000	0.49849	0.0:0.0:1.0:0.0	10.264	0.42622	749	0.51929	.;.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1429	379.87	78	chr10	50104144	.	G	C,A	379.87	.	AC=2,2;AF=0.071,0.071;AN=28;BaseQRankSum=-2.776e+00;DP=1181;ExcessHet=0.7564;FS=263.402;InbreedingCoeff=-0.2209;MLEAC=3,2;MLEAF=0.107,0.071;MQ=56.92;MQRankSum=0.493;QD=1.07;ReadPosRankSum=0.796;SOR=8.608	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:101,0,17:118:1:0|1:50104141_G_C:1,301,3882,0,3581,3533:50104141	10	0	2	7
chr10	50104144	50104144	G	A	splicing	WASHC2A	NM_001291398:exon18:c.1737+1G>A;NM_001330102:exon18:c.1737+1G>A;NM_001005751:exon18:c.1737+1G>A	.	.	.	.	.	.	.	.	.	.	.	1.0000	0.778	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.000	D	.	.	.	.	.	.	.	.	.	1.121	9.572	3.2	1.510	4.613	10.264	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0463318	0.57869	T	-0.171224	0.57330	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.;.;.	.;.;.;.;.	5.720867	0.93226	33	0.97432250228662731	0.33931	0.91899	0.54504	D	AEFI	.	.	.	0.701995888035694	0.79764	7.146901	0.445472292793738	0.64426	4.697596	7.07449565220211E-5	0.04366	0.164513	0.03853	0	0.195528	0.04277	0	0.078618	0.02440	0	0.221052	0.04502	0	0.694248	0.42717	3.2	3.2	0.35826	5.024000	0.63865	11.562000	0.93235	0.461000	0.21595	1.000000	0.71638	1.000000	0.68203	0.951000	0.49849	0.0:0.0:1.0:0.0	10.264	0.42622	749	0.51929	.;.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1429	379.87	78	chr10	50104144	.	G	C,A	379.87	.	AC=2,2;AF=0.071,0.071;AN=28;BaseQRankSum=-2.776e+00;DP=1181;ExcessHet=0.7564;FS=263.402;InbreedingCoeff=-0.2209;MLEAC=3,2;MLEAF=0.107,0.071;MQ=56.92;MQRankSum=0.493;QD=1.07;ReadPosRankSum=0.796;SOR=8.608	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:101,0,17:118:1:0|1:50104141_G_C:1,301,3882,0,3581,3533:50104141	10	0	2	7
chr10	62092026	62092026	A	G	exonic	ARID5B	.	nonsynonymous SNV	ARID5B:NM_001244638:exon7:c.A1834G:p.K612E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.996	D	0.824	P	0.000	D	1.000	D	2.015	M	0.62	T	-0.479	T	0.286	T	0.758	3.951	20.2	5.87	2.242	6.933	16.267	0.224	0.025201806398	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.68238	D	0.145	0.37872	T	0.996	0.68779	D	0.824	0.59271	P	0.000001	0.62929	D	0.103999	0.999861	0.50061	D	1.955	0.52871	M	0.62	0.54149	T	-0.65	0.18877	N	0.529	0.73375	-0.4788	0.69410	T	0.286	0.65802	T	10	0.44636667	0.58422	T	0.025202	0.48177	D	0.224	0.52174	0.122	0.02867	0.590931333426	0.58769	0.221919091151386	0.22106	1.20430854673	0.80639	0.44478982687	0.31232	T	0.213771	0.57518	T	0.121558	0.66528	D	-0.0631661	0.66111	T	0.735250152822571	0.42483	D	0.90081	0.65538	D	0.42721224	0.62569	0.42701653	0.66460	0.42721224	0.62570	0.42701653	0.66460	-5.011	0.38065	T	.	.	0.418	0.61988	A	.;.	.;.	4.022187	0.59410	24.1	0.99833645612531696	0.91542	0.86123	0.45345	D	AEFBCI	0.661142	0.63147	D	0.720519980594005	0.80978	7.415647	0.728692232329072	0.84556	8.325322	0.999999992494279	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.618467	0.43123	0	0.635551	0.53088	0	.	.	5.87	5.87	0.94266	6.941000	0.75731	11.299000	0.92274	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.979000	0.57723	1.0:0.0:0.0:0.0	16.267	0.82423	717	0.55835	.;.	.	.	.	.	.	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	2936.98	35	chr10	62092026	.	A	G	2936.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-9.090e-01;DP=884;ExcessHet=0.0000;FS=0.538;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.38;ReadPosRankSum=0.129;SOR=0.757	GT:AD:DP:GQ:PL	0/1:80,111:191:99:2951,0,2037	20	0	1	0
chr10	68174328	68174328	A	G	exonic	MYPN	.	nonsynonymous SNV	MYPN:NM_032578:exon11:c.A2236G:p.T746A	Cardiomyopathy, dilated, 1KK, Autosomal dominant;Cardiomyopathy, familial restrictive, 4, Autosomal dominant;Cardiomyopathy, hypertrophic, 22, Autosomal dominant;Nemaline myopathy 11, autosomal recessive, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	198272	MYPN-related_disorder|See_cases|not_provided|Cardiovascular_phenotype|Dilated_cardiomyopathy_1KK|not_specified	.|.|MedGen:C3661900|MedGen:CN230736|MONDO:MONDO:0014100,MedGen:C3714995,OMIM:615248,Orphanet:154,Orphanet:75249|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	.	.	0.228	B	0.085	B	0.000	D	1.000	N	1.245	L	0.44	T	-0.999	T	0.081	T	0.413	2.367	13.87	4.58	2.195	0.734	8.798	0.065	0.00979998013953	0.0025	0.00159744	0.0007	0.0072	8.639e-05	0.0001	0	0	0.0011	6.056e-05	0.0005821	90	154602	rs147287437	0.0002	0.0002	0.0002	0.0002	0.0064	0.0002	0.0002	0.0057	0.0054	0.0064	0.0004	0	2.519e-05	0	0.0003	1.799e-06	0.0004	4.637e-05	0.0021	0.0021	0.0023	0.0018	0.0074	0.0019	0.0018	0.0067	0.0064	0.0074	0	0.0003	0	0	0	0	2.94e-05	0.0014	0	0.059	0.37536	T	0.412	0.21078	T	0.172	0.30509	B	0.039	0.29395	B	0.000115	0.50451	D	0.171275	0.66774	0.30392	N	1.87	0.49600	L	0.42	0.57261	T	-0.55	0.18877	N	0.067	0.04307	-0.9986	0.30311	T	0.081	0.32031	T	9	0.0039547086	0.00076	T	0.010	0.25563	T	0.065	0.18881	.	.	0.606901216843	0.60375	0.22397987137468223	0.22312	0.132354087043	0.14917	0.399781763554	0.25039	T	0.034032	0.23157	T	-0.40696	0.02083	T	-0.35236	0.38933	T	0.0153948718846903	0.00344	T	0.616438	0.23595	T	0.07058562	0.15560	0.097099595	0.23099	0.064791076	0.13783	0.07612163	0.16827	-4.715	0.33585	T	.	.	0.116	0.46366	B	.;.;.;.	.;.;.;.	2.084045	0.26508	17.14	0.98832265727868795	0.46969	0.73997	0.36194	D	AEFBHCI	0.326994	0.42809	N	-0.168678792179139	0.34443	1.96602	-0.0305096848699544	0.38344	2.257722	0.788028471774978	0.23965	0.553676	0.25195	0	0.573888	0.26702	0	0.547309	0.15389	0	0.620846	0.47308	0	.	.	5.76	4.58	0.56077	0.767000	0.26238	3.774000	0.39765	0.756000	0.94297	0.008000	0.17931	1.000000	0.68203	0.919000	0.45453	0.7423:0.1318:0.0:0.126	8.798	0.34049	930	0.16408	.;.;.;.	.	.	.	.	.	Likely benign	0	0	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	2071.98	33	chr10	68174328	.	A	G	2071.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.823e+00;DP=2167;ExcessHet=0.0000;FS=1.939;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.63;ReadPosRankSum=0.594;SOR=0.864	GT:AD:DP:GQ:PL	0/1:85,79:164:99:2086,0,2633	20	0	1	0
chr10	68645301	68645301	A	C	exonic	TET1	.	nonsynonymous SNV	TET1:NM_030625:exon4:c.A2572C:p.T858P,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	T	0.001	B	0.001	B	0.083	N	1.000	N	0	N	3.18	T	-0.974	T	0.010	T	0.186	-0.383	2.202	-4.62	-0.376	-0.413	0.157	0.096	0.00287577995958	.	.	8.244e-06	0	0	0	0	0	0	6.061e-05	6.5e-06	1	154602	rs757552396	6.157e-06	6.156e-06	1.089e-05	1.375e-06	0.0002	2.9e-06	2.1e-06	3.765e-05	2.662e-05	0	0	0	0	0	0.0002	8.993e-07	0	8.116e-05	1.315e-05	1.314e-05	1.285e-05	1.347e-05	4.832e-05	2.19e-06	8.2e-07	8.01e-06	3e-06	4.832e-05	0	0	0	0	0	0	0	0	0	0.203	0.20154	T	0.246	0.23984	T	0.001	0.07471	B	0.001	0.04355	B	0.083437	0.02379	N	2.031710	1	0.08975	N	0.55	0.14455	N	3.18	0.07478	T	0.04	0.06488	N	0.054	0.02559	-0.9743	0.36279	T	0.010	0.03673	T	10	0.04174134	0.02856	T	0.002876	0.06044	T	0.096	0.27654	0.146	0.04941	0.043077524339	0.03247	0.15425591203591993	0.15346	0.0587377021857	0.06515	0.280730843544	0.07593	T	0.019299	0.15402	T	-0.397782	0.02394	T	-0.712308	0.05177	T	0.0566309832422786	0.06628	T	0.413359	0.10763	T	0.042218216	0.06361	0.039803095	0.04157	0.042218216	0.06361	0.039803095	0.04157	-3.774	0.20417	T	.	.	0.092	0.13597	B	.	.	-0.042819	0.03995	0.908	0.64990780692574179	0.07647	0.07346	0.13367	N	AEFBI	0.119835	0.23372	N	-1.38186228449164	0.02808	0.1245327	-1.39667259729192	0.03287	0.1530421	0.0252594067203467	0.13636	0.706548	0.73137	0	0.547309	0.14657	0	0.724815	0.87919	0	0.620846	0.47308	0	.	.	5.92	-4.62	0.03129	-0.182000	0.09720	1.057000	0.23687	-0.100000	0.15956	0.000000	0.06391	0.000000	0.08366	0.232000	0.22788	0.2544:0.1886:0.2025:0.3545	0.157	0.00092	645	0.63593	.	.	.	.	.	.	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	1938.98	33	chr10	68645301	.	A	C	1938.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.613e+00;DP=828;ExcessHet=0.0000;FS=2.231;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.80;ReadPosRankSum=-6.510e-01;SOR=0.517	GT:AD:DP:GQ:PL	0/1:61,70:131:99:1953,0,1709	20	0	1	0
chr10	70730135	70730135	C	T	exonic	ADAMTS14	.	nonsynonymous SNV	ADAMTS14:NM_080722:exon6:c.C988T:p.R330C	.	.	405	1084	32	1	0	34	0.0154405	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	1.0	D	0.99	D	0.000	D	1.000	D	1.845	L	-0.07	T	-0.397	T	0.286	T	0.959	4.316	22.6	3.73	2.608	3.715	12.841	0.406	.	0.0028	0.00279553	0.0039	0.0009	0.0007	0	0.0008	0.0036	0.0022	0.0127	0.0037516	580	154602	rs41307534	0.0038	0.0038	0.0035	0.0041	0.0122	0.0037	0.0037	0.0116	0.0114	0.0005	0.0009	0.0025	2.52e-05	0.0014	0.0089	0.0036	0.0028	0.0122	0.0025	0.0025	0.0026	0.0025	0.0099	0.0023	0.0022	0.0077	0.0069	0.0006	0.0242	0.0010	0.0032	0	0.0008	0.0102	0.0036	0.0033	0.0099	0.0	0.91255	D	0.001	0.83351	D	1.0	0.90584	D	0.985	0.76457	D	0.000013	0.62929	D	0.065417	0.999946	0.51968	D	2.275	0.64647	M	-0.07	0.63738	T	-5.92	0.88963	D	0.905	0.91047	-0.3974	0.72109	T	0.286	0.65802	T	10	0.012337029	0.00265	T	.	.	.	0.406	0.71869	.	.	0.836419884851	0.83485	0.6708937866827652	0.67027	0.81188555165	0.66771	0.749727368355	0.74406	T	0.326422	0.69704	T	-0.0241255	0.48263	T	0.204	0.83325	D	0.0422191017684646	0.04096	T	0.976302	0.91743	D	0.7497674	0.80855	0.60920113	0.77271	0.7497674	0.80856	0.60920113	0.77272	-13.021	0.89451	D	.	.	0.353	0.56799	A	.;.	.;.	5.829889	0.93735	33	0.99937741511229405	0.99661	0.93661	0.58832	D	AEFDGBI	0.653893	0.62677	D	0.632925660855265	0.75266	6.276043	0.588476998448334	0.74112	6.082002	0.999988406298321	0.51787	0.600919	0.35232	0	0.573888	0.26702	0	0.640751	0.46059	0	0.564101	0.26826	0	.	.	4.7	3.73	0.41982	3.928000	0.56220	3.201000	0.36751	0.599000	0.40250	0.998000	0.41325	0.997000	0.33255	0.997000	0.79791	0.2573:0.7427:0.0:0.0	12.841	0.57185	324	0.86790	.;Peptidase M12B, ADAM/reprolysin|Peptidase M12B, ADAM/reprolysin	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	1260.98	33	chr10	70730135	.	C	T	1260.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.49;DP=813;ExcessHet=0.0000;FS=1.664;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.14;ReadPosRankSum=0.048;SOR=0.520	GT:AD:DP:GQ:PL	0/1:46,50:96:99:1275,0,1087	20	0	1	0
chr10	73426009	73426009	G	A	exonic	MSS51	.	nonsynonymous SNV	MSS51:NM_001024593:exon5:c.C871T:p.P291S,	.	.	434	1086	2	0	0	2	0.000919963	.	.	2289978	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	.	.	0.991	D	0.634	P	0.000	N	0.999	D	2.045	M	0.17	T	-0.717	T	0.230	T	0.335	4.134	21.3	3.62	0.877	6.234	10.045	0.300	0.0337633304062	.	.	8.24e-05	0	0.0002	0	0	0.0001	0	0	8.41e-05	13	154602	rs781742879	0.0001	0.0001	0.0001	0.0001	0.0042	9.603e-05	9.082e-05	0.0029	0.0024	8.961e-05	0.0004	3.826e-05	0	0	0.0042	8.993e-05	0.0002	3.478e-05	0.0001	0.0001	0.0001	9.399e-05	0.0003	7.086e-05	5.744e-05	0.0001	8.278e-05	7.218e-05	0	0.0003	0	0	0	0.0034	0.0001	0.0005	0	0.011	0.55530	D	0.032	0.53426	D	0.991	0.64070	D	0.634	0.51870	P	0.000005	0.62929	N	0.108809	0.999078	0.46009	D	1.825	0.47900	L	0.17	0.60485	T	-3.42	0.67241	D	0.456	0.49328	-0.7167	0.59624	T	0.230	0.59558	T	9	0.41713965	0.56617	T	0.033763	0.55213	D	0.300	0.62068	.	.	0.601816880433	0.59863	0.7873879247802962	0.78690	0.271172916804	0.29639	0.495405733585	0.38188	T	0.225692	0.59049	T	-0.234756	0.16025	T	-0.273266	0.47488	T	0.205159063000786	0.20697	T	0.708829	0.31953	T	0.22452164	0.45095	0.21351343	0.45865	0.22452164	0.45095	0.21351343	0.45864	-8.042	0.61356	D	.	.	0.113	0.22318	B	.;.	.;.	4.000824	0.58953	24.0	0.99895411370634546	0.96819	0.98153	0.80057	D	AEFBI	.	.	.	0.457846958535246	0.64651	4.724339	0.447460407033298	0.64554	4.71321	0.788160591720649	0.23967	0.651	0.46895	0	0.577304	0.33150	0	0.65145	0.50148	0	0.491896	0.07777	0	.	.	5.45	3.62	0.40616	6.334000	0.72897	8.650000	0.77929	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.1617:0.0:0.8383:0.0	10.045	0.41354	829	0.39537	.;.	.	.	.	.	.	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	3192.98	37	chr10	73426009	.	G	A	3192.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.626;DP=977;ExcessHet=0.0000;FS=0.486;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.07;ReadPosRankSum=-5.100e-01;SOR=0.635	GT:AD:DP:GQ:PL	0/1:104,123:227:99:3207,0,2671	20	0	1	0
chr10	73911598	73911598	G	T	exonic	PLAU	.	nonsynonymous SNV	PLAU:NM_002658:exon2:c.G43T:p.V15L,	Quebec platelet disorder, Autosomal dominant	.	1	1409	105	7	0	119	0.0405175	.	.	316280	Quebec_platelet_disorder	MONDO:MONDO:0011136,MedGen:C1866423,OMIM:601709,Orphanet:220436	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.49	T	0.053	B	0.019	B	0.005	N	0.995	N	0.6	N	-2.24	D	-0.853	T	0.232	T	0.074	1.463	10.84	2.75	0.829	1.279	10.072	0.102	.	0.0078	0.00738818	0.0115	0.0017	0.0058	0	0.0069	0.0120	0.0154	0.0279	0.010375	1604	154602	rs2227580	0.0087	0.0087	0.0077	0.0097	0.0501	0.0086	0.0085	0.0454	0.0435	0.0019	0.0067	0.0185	0	0.0068	0.0501	0.0073	0.0104	0.0281	0.0076	0.0077	0.0079	0.0074	0.0236	0.0073	0.0071	0.0201	0.0188	0.0019	0	0.0061	0.0181	0	0.0047	0.0578	0.0107	0.0123	0.0236	0.322	0.13479	T	0.0	0.92824	D	.	.	.	.	.	.	0.004663	0.33505	N	0.182175	1	0.23414	N	.	.	.	-2.24	0.87194	D	-0.07	0.08033	N	0.051	0.02272	-0.8534	0.51732	T	0.232	0.59867	T	10	0.0038291514	0.00072	T	.	.	.	0.102	0.29158	0.117	0.02508	.	.	0.5124656367934278	0.51168	0.27678225461	0.30148	0.449435532093	0.31867	T	.	.	.	-0.447549	0.01167	T	-0.396052	0.33845	T	0.00947673903922724	0.00122	T	0.487251	0.14908	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.129	0.27583	B	.;.	.;.	1.692782	0.21567	15.25	0.89963582726528479	0.19259	0.15746	0.19061	N	ALL	0.088594	0.17960	N	-0.679747109664984	0.16599	0.8471829	-0.602636444368169	0.19425	1.042126	0.999999986212794	0.74766	0.789315	0.99827	0	0.552344	0.17405	0	0.768056	0.98339	0	0.56214	0.19341	0	.	.	5.98	2.75	0.31439	0.995000	0.29307	1.024000	0.23428	0.662000	0.56354	0.504000	0.26986	0.441000	0.24904	0.058000	0.15825	0.0:0.2474:0.6074:0.1452	10.072	0.41510	394	0.83065	.;.	MSS51|DUSP8P5|KAT6B	Minor_Salivary_Gland|Testis|Thyroid	.	.	.	Likely benign	0	0	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	2874.11	34	chr10	73911598	.	G	T	2874.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=2.68;DP=923;ExcessHet=0.1072;FS=0.479;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=11.93;ReadPosRankSum=-7.930e-01;SOR=0.759	GT:AD:DP:GQ:PL	0/1:58,59:117:99:1528,0,1341	19	0	2	0
chr10	84234132	84234132	C	A	exonic	LRIT1	.	nonsynonymous SNV	LRIT1:NM_015613:exon3:c.G836T:p.G279V,	.	.	421	1087	14	0	0	14	0.00639854	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.999	D	0.000	D	1.000	D	4.17	H	-1.32	T	0.875	D	0.812	D	0.882	3.478	17.80	5.91	2.793	7.487	19.07	0.783	.	0.0005	0.00199681	0.0010	0	0.0003	0.0001	0	0.0005	0	0.0066	0.0008667	134	154602	rs373737385	0.0006	0.0006	0.0004	0.0008	0.0053	0.0006	0.0006	0.0049	0.0048	9.016e-05	0.0003	0.0011	0	0	0.0027	0.0003	0.0008	0.0053	0.0005	0.0005	0.0005	0.0006	0.0072	0.0004	0.0004	0.0054	0.0047	0.0002	0	0.0005	0.0012	0	0	0	0.0004	0	0.0072	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.25	0.89816	M	-1.32	0.79761	T	-6.97	0.93544	D	0.946	0.95374	0.875	0.95347	D	0.812	0.93647	D	10	0.07510394	0.11564	T	.	.	.	0.783	0.92787	.	.	0.73760156344	0.73525	0.952733017401933	0.95257	0.498056907143	0.48287	0.678406000137	0.64040	T	0.475524	0.80653	T	0.0540273	0.58859	T	0.305371	0.88445	D	0.192734791936266	0.20004	T	0.872413	0.57909	D	0.8944415	0.90892	0.6313152	0.78491	0.8944415	0.90893	0.6313152	0.78492	-10.637	0.77630	D	.	.	0.901	0.82795	P	.	.	4.453791	0.69252	25.3	0.99710016478489993	0.81283	0.98815	0.87215	D	AEFDBI	0.903024	0.85162	D	0.867179570836743	0.90064	10.237	0.704065771692812	0.82686	7.829259	0.999999405348896	0.74766	0.497415	0.19182	0	0.563428	0.19063	0	0.48864	0.07692	0	0.542086	0.14980	0	.	.	5.91	5.91	0.95240	7.568000	0.81546	7.701000	0.66289	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.055000	0.15596	0.0:1.0:0.0:0.0	19.07	0.93113	927	0.17636	Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	3601.11	42	chr10	84234132	.	C	A	3601.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-2.515e+00;DP=1639;ExcessHet=0.1072;FS=0.495;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=15.79;ReadPosRankSum=-1.132e+00;SOR=0.743	GT:AD:DP:GQ:PL	0/1:38,66:104:99:1867,0,1056	19	0	2	0
chr10	87232860	87232860	G	A	exonic	NUTM2A	.	nonsynonymous SNV	NUTM2A:NM_001099338:exon5:c.G1609A:p.E537K,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.972	D	0.866	P	0.043	N	1.000	N	1.54	L	2.41	T	-0.992	T	0.085	T	0.329	1.489	10.93	-1.62	-0.403	-0.121	2.493	0.014	0.00280233783207	.	0.000798722	0.0022	0	0	0	0	0	0	0.0085	0.0001537	4	26028	rs534818468	0.0002	0.0002	0.0001	0.0002	0.0017	0.0001	0.0001	0.0015	0.0014	0	0	0	0	0.0009	0.0002	1.012e-05	0.0001	0.0017	0.0002	0.0002	6.627e-05	0.0003	0.0029	0.0001	9.532e-05	0.0017	0.0013	0	0	0	0	0	0.0008	0	4.631e-05	0	0.0029	0.081	0.34444	T	0.144	0.33109	T	0.972	0.57405	D	0.866	0.61580	P	0.042926	0.01912	N	2.096150	1	0.08975	N	.	.	.	2.41	0.28189	T	-2.32	0.51968	N	0.087	0.06587	-0.9923	0.32012	T	0.085	0.33157	T	10	0.0059117973	0.00132	T	0.002802	0.05840	T	0.060	0.17295	.	.	0.0675242888579	0.06100	0.04764129308581423	0.04707	.	.	0.642496407032	0.58919	T	0.02717	0.19957	T	-0.499134	0.00578	T	-0.496224	0.22739	T	0.124929367434502	0.14906	T	0.730727	0.34650	T	0.06326793	0.13303	0.056156516	0.09982	0.06326793	0.13303	0.056156516	0.09981	-4.496	0.30889	T	.	.	0.082	0.08948	B	.;.	.;.	1.617500	0.20662	14.85	0.99007965344644511	0.50293	0.00104	0.00666	N	AEFI	0.035462	0.04568	N	-0.884137796512944	0.11220	0.5402504	-1.1278364322251	0.07172	0.3478773	1.68081664429941E-6	0.01202	0.554377	0.28877	0	0.588066	0.40923	0	0.602189	0.34648	0	0.567892	0.33627	0	.	.	1.15	-1.62	0.07926	0.591000	0.23670	-2.434000	0.03759	0.380000	0.20399	0.038000	0.20882	0.000000	0.08366	0.034000	0.13613	0.245:0.3198:0.4352:0.0	2.493	0.04333	922	0.19044	Nuclear Testis  protein, N-terminal;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.025	820.34	723	chr10	87232860	.	G	A	820.34	.	AC=1;AF=0.025;AN=40;BaseQRankSum=-7.720e-01;DP=723;ExcessHet=0.0000;FS=3.027;InbreedingCoeff=-0.0258;MLEAC=1;MLEAF=0.025;MQ=37.18;MQRankSum=1.35;QD=10.38;ReadPosRankSum=0.844;SOR=0.397	GT:AD:DP:GQ:PL	0/1:38,41:79:99:834,0,870	19	0	1	1
chr10	91984397	91984397	G	T	exonic	BTAF1	.	nonsynonymous SNV	BTAF1:NM_003972:exon19:c.G2420T:p.S807I,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.46	T	0.0	B	0.0	B	0.000	D	1.000	D	0	N	-2.59	D	-0.661	T	0.363	T	0.227	0.590	7.183	3.39	1.034	4.207	7.831	0.290	0.0270058691097	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.414	0.10020	T	0.432	0.13634	T	0.0	0.02946	B	0.0	0.01387	B	0.000001	0.62929	D	0.095896	0.898275	0.27751	N	0.895	0.22405	L	-2.59	0.89822	D	-1.06	0.27669	N	0.269	0.30461	-0.6609	0.62236	T	0.363	0.72422	T	10	0.11601579	0.21873	T	0.027006	0.49866	D	0.290	0.60924	0.406	0.43902	0.369524611565	0.36568	0.391409457940961	0.39055	0.58120297917	0.53933	0.32369685173	0.13981	T	0.077812	0.35743	T	-0.0157143	0.49463	T	-0.260349	0.48789	T	0.183698043227196	0.19466	T	0.872413	0.57909	D	0.08219725	0.18923	0.07404366	0.16156	0.08219725	0.18923	0.07404366	0.16156	-4.457	0.30322	T	.	.	0.124	0.26106	B	.;.	.;.	2.288744	0.29275	18.07	0.87087147069446291	0.16979	0.91023	0.52710	D	AEFGBI	0.204213	0.33067	N	-0.524644195592566	0.21284	1.128486	-0.293897442204586	0.28300	1.576884	0.662931346301893	0.22291	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.82	3.39	0.37919	4.181000	0.58100	6.884000	0.56822	-0.116000	0.14526	1.000000	0.71638	1.000000	0.68203	0.972000	0.54974	0.7887:0.1385:0.0728:0.0	7.831	0.28502	922	0.19044	Domain of unknown function DUF3535;Domain of unknown function DUF3535	.	.	.	.	.	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	1739.98	35	chr10	91984397	.	G	T	1739.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.86;DP=809;ExcessHet=0.0000;FS=1.576;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.50;ReadPosRankSum=-1.155e+00;SOR=0.908	GT:AD:DP:GQ:PL	0/1:59,61:120:99:1754,0,1534	20	0	1	0
chr10	92690021	92690021	C	A	exonic	HHEX	.	nonsynonymous SNV	HHEX:NM_002729:exon1:c.C35A:p.A12D,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	T	0.089	B	0.016	B	0.084	N	1.000	D	0	N	-2.75	D	-0.316	T	0.451	T	0.481	1.760	11.84	2.66	1.798	2.313	14.074	0.373	0.987234161145	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.127	0.27080	T	0.398	0.15109	T	0.089	0.25085	B	0.016	0.17743	B	0.084313	0.20704	N	0.411728	0.877476	0.35683	D	1.39	0.34934	L	-2.75	0.90792	D	-0.67	0.19297	N	0.373	0.41459	-0.3155	0.74548	T	0.451	0.78497	T	10	0.35033876	0.51907	T	0.987234	0.99945	D	0.373	0.69188	0.261	0.20473	0.956807828185	0.95634	0.40263107456511144	0.40179	1.00153183051	0.74427	0.894588589668	0.95818	D	0.441009	0.78571	T	0.0748936	0.61437	D	-0.130197	0.60956	T	0.132907806141168	0.15649	T	0.351965	0.07883	T	0.331169	0.55566	0.4418258	0.67454	0.331169	0.55566	0.4418258	0.67454	-7.143	0.55071	T	.	.	0.351	0.56612	A	.	.	2.813064	0.37040	20.4	0.96425366790867872	0.29775	0.86421	0.45698	D	AEFBHCIJ	0.511912	0.54034	D	-0.473477840998057	0.22953	1.229165	-0.345543020141886	0.26646	1.47322	0.999999999999949	0.74766	0.437478	0.07067	0	0.552344	0.17405	0	0.606814	0.37721	0	0.56214	0.19341	0	.	.	2.66	2.66	0.30672	0.341000	0.19652	5.467000	0.48687	0.436000	0.21017	0.013000	0.18845	0.999000	0.35428	0.839000	0.39591	0.0:1.0:0.0:0.0	14.074	0.64404	850	0.35610	.	.	.	.	.	.	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	891.98	35	chr10	92690021	.	C	A	891.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.760e+00;DP=796;ExcessHet=0.0000;FS=2.199;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.15;ReadPosRankSum=-6.230e-01;SOR=0.425	GT:AD:DP:GQ:PL	0/1:43,37:80:99:906,0,1265	20	0	1	0
chr10	94402759	94402759	-	GGAGGAGGCTGACGAGGA	exonic	TBC1D12	.	nonframeshift insertion	TBC1D12:NM_015188:exon1:c.146_147insGGAGGAGGCTGACGAGGA:p.E63_T64insADEEEE,	.	.	0	224	2	0	0	2	0.00444444	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0027	0.0012	0.0037	0.0050	0	0.0016	0.0137	0.0034	0.0001921	5	26028	rs765857773	0.0017	0.0017	0.0016	0.0018	0.0059	0.0016	0.0016	0.0054	0.0053	0.0005	0.0008	0.0042	0.0006	0.0033	0.0024	0.0013	0.0019	0.0059	0.0016	0.0017	0.0016	0.0017	0.0048	0.0015	0.0014	0.0033	0.0028	0.0006	0	0.0005	0.0052	0.0008	0.0030	0.0034	0.0020	0.0019	0.0048	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	167.94	31	chr10	94402759	.	C	CGGAGGAGGCTGACGAGGA	167.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.610e-01;DP=502;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.00;ReadPosRankSum=-2.109e+00;SOR=0.905	GT:AD:DP:GQ:PL	0/1:9,5:14:99:182,0,364	20	0	1	0
chr10	97458699	97458699	C	T	exonic	MMS19	.	nonsynonymous SNV	MMS19:NM_001330128:exon29:c.G2792A:p.G931D	.	.	425	1067	27	3	0	33	0.0152284	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.16	T	1.0	D	1.0	D	0.000	D	1.000	D	1.87	L	3.01	T	-1.192	T	0.072	T	0.952	4.605	25.1	5.86	2.784	6.152	20.243	0.085	0.0249108139565	0.0061	0.00219649	0.0070	0.0014	0.0078	0	0.0007	0.0095	0.0093	0.0064	0.0049676	768	154602	rs36023427	0.0057	0.0058	0.0056	0.0059	0.0142	0.0056	0.0056	0.0117	0.0108	0.0012	0.0037	0.0142	0	0.0002	0.0142	0.0061	0.0061	0.0063	0.0049	0.0049	0.0055	0.0043	0.0074	0.0046	0.0045	0.0069	0.0067	0.0015	0.0033	0.0048	0.0124	0.0002	0.0005	0.0238	0.0074	0.0100	0.0050	0.0	0.91255	D	0.007	0.69154	D	0.999	0.90584	D	0.986	0.97372	D	0.000001	0.84330	D	0.056148	1	0.81001	D	1.5	0.37844	L	3.01	0.12055	T	-2.15	0.60665	N	0.54	0.56748	-1.1917	0.00224	T	0.072	0.29163	T	10	0.008618265	0.00195	T	0.024911	0.47894	T	0.298	0.61843	.	.	0.772050974514	0.76996	0.3776198050390584	0.37676	0.616997827486	0.56145	0.703409254551	0.67638	T	0.004579	0.03988	T	-0.117231	0.33577	T	0.0628346	0.74433	D	0.0331436649349962	0.02495	T	0.907909	0.67446	D	0.5464228	0.69756	0.7367198	0.84439	0.5464228	0.69757	0.7367198	0.84440	-8.812	0.74276	D	.	.	0.524	0.74253	A	.;.;.;.	.;.;.;.	4.647030	0.74039	26.1	0.99834872584856071	0.91628	0.98598	0.84531	D	AEFBCI	0.873629	0.79610	D	0.771121570252534	0.84273	8.241691	0.777914714424203	0.88220	9.500903	0.999999999998667	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.697927	0.64325	0	0.711	0.71501	0	.	.	5.86	5.86	0.93936	6.230000	0.72251	7.726000	0.67550	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.991000	0.66497	0.0:1.0:0.0:0.0	20.243	0.98388	375	0.84013	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	1132.98	34	chr10	97458699	.	C	T	1132.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.521e+00;DP=782;ExcessHet=0.0000;FS=1.011;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.71;ReadPosRankSum=-1.430e-01;SOR=0.948	GT:AD:DP:GQ:PL	0/1:37,40:77:99:1147,0,1028	20	0	1	0
chr10	98256817	98256817	C	T	exonic	LOXL4	.	nonsynonymous SNV	LOXL4:NM_032211:exon9:c.G1391A:p.R464Q,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.000	D	1.000	D	2.83	M	1.08	T	-0.288	T	0.318	T	0.914	5.759	36	5.08	2.354	6.055	17.242	0.501	0.120724182654	.	0.000199681	0.0001	0	0	0	0	1.5e-05	0	0.0008	0.0001035	16	154602	rs558093031	4.652e-05	4.652e-05	3.131e-05	6.188e-05	0.0005	3.728e-05	3.411e-05	0.0004	0.0004	0	0	0	2.519e-05	0	0	1.349e-05	8.279e-05	0.0005	5.25e-05	5.249e-05	5.138e-05	5.368e-05	0.0006	2.554e-05	1.828e-05	0.0002	8.989e-05	0	0	6.531e-05	0	0	0	0	4.41e-05	0.0005	0.0006	0.0	0.91255	D	0.003	0.76473	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	0.999999	0.58761	D	2.5	0.72771	M	1.08	0.39401	T	-3.29	0.65742	D	0.667	0.67564	-0.2876	0.75332	T	0.318	0.68717	T	10	0.5729313	0.65420	D	0.120724	0.80133	D	0.501	0.78413	0.808	0.92512	0.65114355821	0.64824	0.8954470839324996	0.89515	0.427668763586	0.43109	0.56383895874	0.47809	T	0.222945	0.58694	T	-0.0162142	0.49391	T	0.118428	0.78132	D	0.740929365158081	0.42787	D	0.953705	0.82322	D	0.7645199	0.81720	0.6941059	0.81993	0.7645199	0.81722	0.6941059	0.81994	-9.487	0.70778	D	.	.	0.214	0.44319	B	.	.	4.988159	0.82676	27.8	0.9995468981193304	0.99969	0.91535	0.53733	D	AEFDBCI	0.854563	0.77160	D	0.79239360925567	0.85626	8.632867	0.725043624137626	0.84280	8.24833	0.999999999999969	0.74766	0.554377	0.28877	0	0.550933	0.16991	0	0.602189	0.34648	0	0.567892	0.33627	0	.	.	5.08	5.08	0.68373	5.027000	0.63888	4.938000	0.46187	0.599000	0.40250	0.872000	0.30832	1.000000	0.68203	0.996000	0.76049	0.0:1.0:0.0:0.0	17.242	0.86901	756	0.51065	SRCR domain|SRCR domain|SRCR-like domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1314.98	33	chr10	98256817	.	C	T	1314.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.365;DP=816;ExcessHet=0.0000;FS=0.734;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.64;ReadPosRankSum=2.28;SOR=0.775	GT:AD:DP:GQ:PL	0/1:51,53:104:99:1329,0,1240	20	0	1	0
chr10	98429810	98429810	C	A	exonic	HPS1	.	nonsynonymous SNV	HPS1:NM_001322480:exon7:c.G587T:p.G196V	Hermansky-Pudlak syndrome 1, Autosomal recessive	YES	.	.	.	.	.	.	.	.	.	1886109	not_provided	MedGen:CN517202	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.23	T	0.554	P	0.244	B	0.002	N	1.000	N	0.69	N	1.61	T	-1.066	T	0.073	T	0.076	0.058	4.318	0.151	-0.063	0.961	3.274	0.048	0.0301203275644	.	.	2.483e-05	0	0	0	0	4.525e-05	0	0	1.94e-05	3	154602	rs74154475	2.053e-05	2.052e-05	1.77e-05	2.338e-05	5.797e-05	1.456e-05	1.264e-05	2.194e-05	1.43e-05	0	2.236e-05	0	0	0	0	2.158e-05	0	5.797e-05	1.314e-05	1.313e-05	1.284e-05	1.345e-05	0.0002	2.18e-06	8.2e-07	.	.	2.412e-05	0	0	0	0	0	0	0	0	0.0002	0.265	0.16305	T	0.415	0.34241	T	0.554	0.38213	P	0.244	0.38795	B	0.001574	0.00800	N	2.870320	1	0.08975	N	1.39	0.34934	L	1.61	0.42122	T	-0.96	0.25551	N	0.197	0.24510	-1.0655	0.10432	T	0.073	0.29515	T	10	0.07109341	0.10432	T	0.03012	0.52495	D	0.048	0.13305	0.169	0.07419	0.188950314367	0.18478	0.23237630519454713	0.23152	0.221833039639	0.24722	0.26722034812	0.05781	T	0.069725	0.33781	T	-0.442799	0.01245	T	-0.671173	0.07534	T	0.0496178790926933	0.05434	T	0.351465	0.08961	T	0.026163831	0.01640	0.033603717	0.02284	0.026163831	0.01639	0.033603717	0.02284	-4.218	0.32209	T	.	.	0.091	0.20430	B	.;.;.;.	.;.;.;.	0.407008	0.07781	4.468	0.55688320436832706	0.05394	0.29693	0.23889	N	AEFDBCI	0.174245	0.30136	N	-1.15801165998637	0.05649	0.2580881	-1.23287260028405	0.05390	0.2566792	0.0165486004274947	0.12843	0.732398	0.92422	0	0.702456	0.74545	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	4.15	0.151	0.14183	0.352000	0.19851	0.095000	0.14569	-0.900000	0.02330	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1831:0.516:0.0:0.3009	3.274	0.06486	835	0.38313	.;.;.;.	.	.	.	.	.	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	1340.98	43	chr10	98429810	.	C	A	1340.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.09;DP=939;ExcessHet=0.0000;FS=16.315;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.76;ReadPosRankSum=0.224;SOR=1.654	GT:AD:DP:GQ:PL	0/1:60,54:114:99:1355,0,1408	20	0	1	0
chr10	99834500	99834500	G	A	exonic	ABCC2	.	nonsynonymous SNV	ABCC2:NM_000392:exon24:c.G3379A:p.V1127I,	Dubin-Johnson syndrome, Autosomal recessive	.	0	1513	9	0	0	9	0.0029654	.	.	192961	not_provided	MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	1	T	0.001	B	0.004	B	0.000	N	1.000	D	-0.94	N	-2.36	D	-0.753	T	0.260	T	0.083	-1.558	0.015	-0.036	-0.247	0.640	10.951	0.301	0.15059769257	7.7e-05	0.000199681	0.0002	9.61e-05	0.0002	0	0	0.0002	0	0.0007	0.0001876	29	154602	rs370049107	0.0001	0.0001	0.0001	0.0001	0.0016	0.0001	0.0001	0.0008	0.0006	0	0.0004	0.0015	2.519e-05	0	0.0016	4.766e-05	0.0004	0.0005	0.0001	0.0001	8.999e-05	0.0002	0.0012	8.664e-05	7.256e-05	0.0005	0.0004	0	0	6.539e-05	0.0012	0	0	0.0068	8.822e-05	0.0005	0.0012	1.0	0.00964	T	1.0	0.01155	T	0.001	0.07471	B	0.004	0.10090	B	0.000224	0.47286	N	0.244651	0.598185	0.30963	N	-1.06	0.01056	N	-2.36	0.88143	D	0.62	0.02442	N	0.231	0.25989	-0.7531	0.57773	T	0.260	0.63099	T	10	0.015184313	0.00319	T	0.150598	0.83226	D	0.301	0.62179	.	.	0.438170831126	0.43439	0.21865689833944185	0.21781	0.0328127421132	0.03431	0.266648471355	0.05708	T	0.091976	0.38908	T	-0.407721	0.02058	T	-0.462646	0.26312	T	0.00337042982054998	0.00036	T	0.287271	0.05164	T	0.0175054	0.00278	0.04331393	0.05359	0.0175054	0.00278	0.04331393	0.05359	-2.422	0.05269	T	0.07645626079696136	0.03495	0.065	0.01859	B	.;.	.;.	-0.710071	0.01297	0.069	0.39375784221966786	0.02713	0.24575	0.22436	N	ALL	0.166385	0.29296	N	-1.4578306419197	0.02156	0.09488812	-1.28389658119181	0.04647	0.2197169	0.999999999518805	0.74766	0.553676	0.25195	0	0.588066	0.40923	0	0.578056	0.29568	0	0.620846	0.47308	0	.	.	5.18	-0.0359	0.13218	0.471000	0.21811	-0.235000	0.10642	-1.401000	0.01141	0.767000	0.29322	0.001000	0.17328	0.000000	0.00833	0.7972:0.0:0.2028:0.0	10.951	0.46540	714	0.56256	ABC transporter type 1, transmembrane domain|ABC transporter type 1, transmembrane domain;ABC transporter type 1, transmembrane domain|ABC transporter type 1, transmembrane 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	1772.98	37	chr10	99834500	.	G	A	1772.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.15;DP=838;ExcessHet=0.0000;FS=8.578;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.06;ReadPosRankSum=0.637;SOR=0.792	GT:AD:DP:GQ:PL	0/1:74,73:147:99:1787,0,1748	20	0	1	0
chr10	100288427	100288427	C	T	exonic	PKD2L1	.	nonsynonymous SNV	PKD2L1:NM_001253837:exon16:c.G2246A:p.R749H	.	.	427	1048	45	2	0	49	0.0228438	.	.	723712	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.11	T	0.0	B	0.0	B	.	.	1.000	N	0	N	0.38	T	-1.029	T	0.075	T	0.173	1.087	9.436	-6.61	-1.526	-3.756	7.408	0.075	.	0.0008	0.00199681	0.0024	9.625e-05	0.0016	0.0002	0	0.0012	0.0044	0.0112	0.0021086	326	154602	rs142439136	0.0014	0.0014	0.0010	0.0019	0.0142	0.0014	0.0014	0.0121	0.0118	0.0001	0.0011	0.0017	2.519e-05	5.616e-05	0.0142	0.0006	0.0019	0.0127	0.0011	0.0011	0.0009	0.0012	0.0108	0.0009	0.0009	0.0084	0.0076	0.0002	0	0.0007	0.0012	0	0	0.0238	0.0011	0.0019	0.0108	0.551	0.06564	T	0.236	0.24694	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	0	0.06538	N	0.24	0.59583	T	-2.29	0.50992	N	0.014	0.00160	-1.0290	0.20778	T	0.075	0.30335	T	9	0.0033938587	0.00059	T	.	.	.	0.075	0.21907	.	.	0.256283259241	0.25257	0.23419068029819137	0.23334	0.0822587675246	0.09278	0.198136895895	0.00405	T	0.082556	0.36854	T	-0.572676	0.00213	T	-0.584998	0.14101	T	0.0107580637357385	0.00152	T	0.365463	0.08501	T	0.024329975	0.01253	0.04724396	0.06762	0.024329975	0.01253	0.04724396	0.06762	-4.527	0.31240	T	.	.	0.097	0.15609	B	.	.	-0.471885	0.01959	0.169	0.59807317873006993	0.06311	0.00450	0.02181	N	AEFBI	0.044907	0.07281	N	-1.63518622830802	0.01099	0.04770569	-1.72754793295962	0.01021	0.0457736	0.999999368689944	0.74766	0.554377	0.28877	0	0.59043	0.45803	0	0.602189	0.34648	0	0.542086	0.14980	0	.	.	4.08	-6.61	0.01652	-3.743000	0.00424	-11.204000	0.00625	-1.727000	0.00720	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.167:0.263:0.57	7.408	0.26174	816	0.41767	.	.	.	.	.	.	Likely benign	0	0	0	0	0	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	1428.98	33	chr10	100288427	.	C	T	1428.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.800e-01;DP=790;ExcessHet=0.0000;FS=0.749;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.87;ReadPosRankSum=0.343;SOR=0.824	GT:AD:DP:GQ:PL	0/1:44,59:103:99:1443,0,1050	20	0	1	0
chr10	103424999	103424999	G	A	exonic	PDCD11	.	nonsynonymous SNV	PDCD11:NM_014976:exon20:c.G2779A:p.E927K,	.	.	424	1097	1	0	0	1	0.000455581	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.88	T	0.002	B	0.001	B	0.178	N	1.000	N	1.04	L	2.99	T	-0.949	T	0.015	T	0.125	0.681	7.640	2.53	0.777	0.883	1.521	0.075	0.00284496675166	.	0.000199681	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs202170736	8.893e-06	8.893e-06	6.806e-06	1.1e-05	2.987e-05	4.96e-06	3.82e-06	3.1e-06	2.24e-06	2.987e-05	2.236e-05	0	2.519e-05	0	0	7.195e-06	1.656e-05	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	0	0	0.0002	0.918	0.02321	T	0.454	0.12812	T	0.002	0.09854	B	0.001	0.04355	B	0.177698	0.17190	N	0.636690	1	0.08975	N	0.205	0.09354	N	2.99	0.09262	T	0.51	0.02898	N	0.103	0.08646	-0.9488	0.41177	T	0.015	0.05801	T	10	0.021432728	0.00512	T	0.002845	0.05956	T	0.075	0.21907	.	.	0.261217442401	0.25729	0.16366203810263458	0.16286	0.228588105489	0.25409	0.300066292286	0.10411	T	0.00371	0.03121	T	-0.461425	0.00963	T	-0.718434	0.04872	T	0.0328316354430965	0.02443	T	0.662034	0.27102	T	0.019013882	0.00426	0.030189864	0.01444	0.019013882	0.00426	0.030189864	0.01444	-2.267	0.04378	T	.	.	0.067	0.02518	B	.;.	.;.	1.648571	0.21035	15.02	0.91882057533179429	0.21199	0.09750	0.15435	N	AEFDGBI	0.032646	0.03727	N	-0.816428013894263	0.12891	0.6313294	-0.743349326858115	0.15885	0.8377138	0.922850672738012	0.26723	0.719381	0.83141	0	0.702456	0.74545	0	0.723133	0.82415	0	0.714379	0.83352	0	.	.	5.74	2.53	0.29594	0.902000	0.28088	1.635000	0.27760	0.676000	0.76740	0.002000	0.15269	0.461000	0.25002	0.697000	0.34049	0.2213:0.2726:0.3733:0.1328	1.521	0.02364	218	0.91525	.;.	.	.	.	.	.	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	1986.98	35	chr10	103424999	.	G	A	1986.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.04;DP=869;ExcessHet=0.0000;FS=2.092;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.90;ReadPosRankSum=-1.101e+00;SOR=0.918	GT:AD:DP:GQ:PL	0/1:93,74:167:99:2001,0,2300	20	0	1	0
chr10	103473561	103473561	C	A	exonic	CALHM3	.	nonsynonymous SNV	CALHM3:NM_001129742:exon3:c.G687T:p.E229D,	.	.	426	1092	4	0	0	4	0.00182815	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.16	T	0.963	D	0.739	P	0.000	D	0.993	D	2.045	M	2.15	T	-1.092	T	0.082	T	0.483	4.429	23.5	5.67	2.677	0.645	7.418	0.160	0.0200583200693	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs764564522	6.791e-05	6.498e-05	7.053e-05	6.522e-05	0.0019	5.672e-05	5.268e-05	0.0011	0.0008	3.165e-05	0.0002	0	0	0	0.0019	4.912e-05	0.0002	0.0002	9.188e-05	9.186e-05	0.0001	6.71e-05	0.0004	5.521e-05	4.36e-05	7.907e-05	5.993e-05	0	0	6.53e-05	0	0	0	0.0034	0.0001	0	0.0004	0.014	0.53172	D	0.021	0.58089	D	.	.	.	.	.	.	0.000005	0.62929	D	0.061154	0.993476	0.41951	D	2.075	0.57047	M	2.15	0.19311	T	-2.31	0.51319	N	0.651	0.66187	-1.0916	0.05270	T	0.082	0.32411	T	10	0.396944	0.55294	T	0.020058	0.42574	T	0.160	0.41473	0.366	0.37361	0.134241683229	0.13084	0.46104046279709593	0.46022	.	.	0.79662168026	0.81449	T	0.041443	0.25860	T	-0.307966	0.07928	T	-0.410848	0.32128	T	0.348093599081039	0.26944	T	0.853415	0.53896	D	0.27270666	0.50339	0.29651344	0.55683	0.27270666	0.50339	0.29651344	0.55683	-4.862	0.35305	T	.	.	0.424	0.60884	A	.	.	3.777977	0.54301	23.5	0.99812589362195903	0.89620	0.90466	0.51665	D	AEFDBIJ	0.386955	0.46712	N	0.494920238967499	0.66793	4.996224	0.511576269708431	0.68767	5.265843	0.999998193613234	0.74766	0.514905	0.20481	0	0.491513	0.07743	0	0.603688	0.36954	0	0.542086	0.14980	0	.	.	5.67	5.67	0.87673	0.695000	0.25205	3.191000	0.36704	0.524000	0.24156	1.000000	0.71638	1.000000	0.68203	0.789000	0.37270	0.0:0.8005:0.0:0.1995	7.418	0.26225	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	2066.98	38	chr10	103473561	.	C	A	2066.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.974e+00;DP=988;ExcessHet=0.0000;FS=1.889;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.09;ReadPosRankSum=-1.560e-01;SOR=0.732	GT:AD:DP:GQ:PL	0/1:87,84:171:99:2081,0,2304	20	0	1	0
chr10	113610473	113610473	C	T	exonic	NRAP	.	nonsynonymous SNV	NRAP:NM_001322945:exon30:c.G3481A:p.E1161K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3	T	0.599	P	0.281	B	0.000	D	1.000	D	2.18	M	2.36	T	-1.113	T	0.073	T	0.791	4.078	21.0	5.63	2.653	4.400	17.861	0.111	0.0132406032373	.	.	.	.	.	.	.	.	.	.	.	.	.	rs867734136	3.554e-06	1.232e-05	2.844e-06	4.264e-06	0.0009	1.04e-06	7.6e-07	0.0003	0.0002	0	0	0	0	0	0.0009	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.085	0.33091	T	0.025	0.56640	D	0.58	0.39298	P	0.281	0.40336	B	0.000059	0.53742	D	0.195113	0.999565	0.81001	D	2.265	0.64440	M	2.36	0.18724	T	-2.56	0.55339	D	0.433	0.47208	-1.1132	0.02809	T	0.073	0.29515	T	10	0.319956	0.49376	T	0.013241	0.32488	T	0.111	0.31313	0.37	0.38013	0.388010793773	0.38412	0.4283883898832142	0.42755	0.0821132296578	0.09255	0.687582731247	0.65359	T	0.121008	0.44366	T	0.0263615	0.55236	T	-0.19991	0.54654	T	0.967500746250153	0.67930	D	0.887111	0.80370	D	0.28495672	0.51520	0.19250625	0.42769	0.28495672	0.51519	0.19250625	0.42768	-7.337	0.56721	T	.	.	0.150	0.38959	B	.;.;.;.	.;.;.;.	3.554109	0.49978	22.9	0.99873762988498704	0.95076	0.97387	0.74426	D	AEFBI	0.798930	0.72534	D	0.32430701448872	0.57397	3.907039	0.422551619636636	0.62974	4.522123	0.999993941164706	0.74766	0.487112	0.14033	0	0.59043	0.45803	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.63	5.63	0.86108	4.755000	0.61895	3.358000	0.37837	0.599000	0.40250	1.000000	0.71638	0.998000	0.33993	0.678000	0.33484	0.0:1.0:0.0:0.0	17.861	0.88695	917	0.20147	.;.;.;.	.	.	.	.	.	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	1994.98	57	chr10	113610473	.	C	T	1994.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.01;DP=1271;ExcessHet=0.0000;FS=2.317;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.09;ReadPosRankSum=0.375;SOR=0.948	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:71,53:124:99:0|1:113610473_C_T:2009,0,2680:113610473	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	0/1:73,34:107:99:.:.:127,0,1128	4	0	10	7
chr10	119042585	119042585	G	A	exonic	EIF3A	.	nonsynonymous SNV	EIF3A:NM_003750:exon19:c.C2935T:p.R979C,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	0.647	P	0.091	B	0.003	N	1.000	D	2.69	M	1.7	T	-0.961	T	0.076	T	0.619	2.229	13.41	4.25	1.606	1.610	14.790	0.186	0.0794602146487	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs757331563	1.505e-05	1.505e-05	2.178e-05	8.25e-06	1.888e-05	9.85e-06	8.41e-06	1.213e-05	1.03e-05	0	0	0	0	1.872e-05	0	1.888e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.014	0.62352	D	0.032	0.20242	B	0.003	0.08700	B	0.003312	0.35125	N	0.000000	1	0.81001	D	2.42	0.70002	M	1.7	0.26885	T	-2.35	0.51968	N	0.552	0.57775	-0.9607	0.39050	T	0.076	0.30460	T	10	0.32077378	0.49448	T	0.07946	0.73239	D	0.186	0.46104	0.389	0.41115	0.276254252017	0.27237	0.24777115118659634	0.24691	1.64019717428	0.89359	0.649996876717	0.59986	T	0.215726	0.57769	T	-0.0459225	0.45065	T	-0.303741	0.44327	T	0.904583096504211	0.55809	D	0.961004	0.85375	D	0.11236938	0.26548	0.08763705	0.20384	0.11236938	0.26548	0.08763705	0.20383	-13.959	0.92923	D	.	.	0.470	0.64695	A	.;.	.;.	3.525414	0.49441	22.8	0.99824718729025341	0.90677	0.83594	0.42701	D	AEFBCI	0.349855	0.44350	N	-0.141855053787978	0.35583	2.045646	-0.0914035357435557	0.35745	2.071633	0.999501622408651	0.40062	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	6.17	4.25	0.49658	1.571000	0.36059	8.625000	0.77828	-0.153000	0.12021	0.996000	0.39380	1.000000	0.68203	0.141000	0.19983	0.0:0.0:0.5165:0.4835	14.790	0.69458	448	0.79501	.;.	.	.	.	.	.	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	3411.98	33	chr10	119042585	.	G	A	3411.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.15;DP=947;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.28;ReadPosRankSum=0.595;SOR=0.680	GT:AD:DP:GQ:PL	0/1:120,119:239:99:3426,0,3220	20	0	1	0
chr10	122083842	122083842	G	T	exonic	TACC2	.	nonsynonymous SNV	TACC2:NM_001291876:exon4:c.G1342T:p.A448S	.	.	417	1089	16	0	0	16	0.00729262	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.17	T	0.123	B	0.034	B	0.568	N	1.000	N	0.895	L	3.84	T	-0.944	T	0.006	T	0.062	2.527	14.41	-3.99	-0.285	0.055	1.930	0.024	.	0.0042	0.00279553	0.0043	0.0009	0.0019	0	0.0020	0.0058	0.0121	0.0050	0.0044631	690	154602	rs77657275	0.0056	0.0056	0.0055	0.0057	0.0094	0.0055	0.0054	0.0074	0.0067	0.0008	0.0021	0.0115	5.038e-05	0.0015	0.0094	0.0062	0.0056	0.0050	0.0039	0.0039	0.0044	0.0035	0.0066	0.0037	0.0036	0.0061	0.0059	0.0010	0	0.0018	0.0089	0.0002	0.0015	0.0102	0.0066	0.0052	0.0044	0.006	0.63226	D	0.033	0.53072	D	0.123	0.26785	B	0.034	0.22546	B	0.568146	0.11266	N	0.724041	1	0.08975	N	1.79	0.46772	L	3.84	0.03863	T	-0.3	0.13035	N	0.155	0.19190	-0.9440	0.41976	T	0.006	0.01981	T	10	0.0035997927	0.00065	T	.	.	.	0.024	0.04979	.	.	0.329282125956	0.32538	0.07783770136316441	0.07719	0.117977574611	0.13280	0.289715051651	0.08881	T	0.014395	0.12263	T	-0.681297	0.00047	T	-0.745015	0.03683	T	0.0043738848235579	0.00047	T	0.69513	0.30552	T	0.081182115	0.18640	0.048901983	0.07361	0.081182115	0.18640	0.048901983	0.07360	-4.032	0.24281	T	.	.	0.129	0.27553	B	.;.;.;.;.	.;.;.;.;.	0.665888	0.10342	7.072	0.95008689206703223	0.25979	0.01772	0.05559	N	AEFDBI	.	.	.	-1.21397749902454	0.04796	0.217244	-1.29267036785511	0.04529	0.2138317	0.879684112285858	0.25592	0.615465	0.37627	0	0.563428	0.19063	0	0.658983	0.55881	0	0.564101	0.26826	0	.	.	5.09	-3.99	0.03798	0.130000	0.15676	.	.	-0.799000	0.03183	0.002000	0.15269	0.000000	0.08366	0.000000	0.00833	0.5136:0.1421:0.2003:0.144	1.930	0.03123	944	0.12746	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.04762	3434.11	41	chr10	122083842	.	G	T	3434.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.965;DP=1268;ExcessHet=0.1072;FS=0.000;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=13.41;ReadPosRankSum=1.45;SOR=0.695	GT:AD:DP:GQ:PL	0/1:79,57:136:99:1600,0,2172	19	0	2	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	0/1:74,25:108:8:8,0,1215	4	0	15	2
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	2/2:1,5,112,0:118:99:.:.:4659,4188,4074,327,233,0,4509,4174,350,4441	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	2/2:1,5,112,0:118:99:.:.:4659,4188,4074,327,233,0,4509,4174,350,4441	0	0	1	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|1:117,13:130:99:0|1:124994489_T_G:194,0,4813:124994489	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|1:117,17:134:99:0|1:124994489_T_G:362,0,4862:124994489	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|1:115,17:132:99:0|1:124994489_T_G:368,0,4757:124994489	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|1:117,23:140:99:0|1:124994523_G_A:533,0,4727:124994523	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	0/1:125,24:149:99:285,0,3864	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	0/1:136,27:163:99:368,0,4305	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|1:139,34:173:99:0|1:124994577_C_A:949,0,5657:124994577	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|1:151,24:175:99:0|1:124998077_C_G:553,0,6248:124998077	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|1:152,24:176:99:0|1:124998077_C_G:550,0,6310:124998077	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|1:153,24:177:99:0|1:124998077_C_G:547,0,6352:124998077	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|1:154,24:178:99:0|1:124998077_C_G:544,0,6394:124998077	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|1:157,24:181:99:0|1:124998111_A_C:535,0,6520:124998111	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|1:160,24:184:99:0|1:124998111_A_C:526,0,6646:124998111	2	0	9	10
chr10	125003006	125003006	T	C	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon3:c.A516G:p.I172M	.	.	446	735	288	11	42	352	0.174157	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.328	B	0.722	P	0.000	D	1.000	D	1.225	L	0.49	T	-0.750	T	0.204	T	0.848	1.968	12.54	-0.385	0.050	-0.041	9.404	0.299	0.0321536739593	.	.	.	.	.	.	.	.	.	.	0.0001153	3	26028	rs112239066	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	0.55530	D	0.08	0.63918	T	0.181	0.33195	B	0.448	0.54942	P	0.000000	0.84330	D	0.041576	0.999844	0.50061	D	0.75	0.19020	N	0.49	0.55775	T	-2.64	0.58569	D	0.836	0.83269	-0.7500	0.57935	T	0.204	0.56197	T	10	0.6425146	0.69138	D	0.032154	0.54058	D	0.299	0.61955	0.608	0.74063	0.888756313204	0.88766	0.8899222963871994	0.88962	1.97030917324	0.93550	0.763966917992	0.76522	T	0.498739	0.82005	T	0.153991	0.69642	D	-0.0165792	0.69254	D	0.892641007900238	0.54376	D	0.971703	0.89738	D	0.900253	0.91405	0.73775256	0.84500	0.900253	0.91406	0.73775256	0.84501	-11.638	0.83043	D	.	.	0.704	0.73111	P	.;.;.;.;.;.	.;.;.;.;.;.	3.009532	0.40238	21.1	0.98800960143032701	0.46445	0.70557	0.34640	D	AEFDGBCI	0.375410	0.45995	N	-0.354523303243395	0.27107	1.484558	-0.382971277888603	0.25504	1.402991	0.999987104814068	0.51787	0.722319	0.85440	0	0.588066	0.40923	0	0.698795	0.65105	0	0.711	0.71501	0	.	.	4.94	-0.385	0.11849	0.087000	0.14801	-2.864000	0.03283	0.661000	0.55757	0.984000	0.35821	0.000000	0.08366	0.987000	0.62547	0.1048:0.0:0.556:0.3392	9.404	0.37616	925	0.17918	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;.;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.1786	1287.27	108	chr10	125003006	.	TATCC	CATCC,T	1287.27	.	AC=4,1;AF=0.143,0.036;AN=28;BaseQRankSum=-2.008e+00;DP=2685;ExcessHet=1.1607;FS=1.860;InbreedingCoeff=-0.2572;MLEAC=5,1;MLEAF=0.179,0.036;MQ=57.16;MQRankSum=-5.258e+00;QD=2.83;ReadPosRankSum=0.793;SOR=0.977	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:94,9,0:103:95:0|1:125003006_T_C:95,0,3920,378,3947,4325:125003006	9	0	4	7
chr10	125003007	125003010	ATCC	-	exonic	CTBP2	.	frameshift deletion	CTBP2:NM_001363508:exon3:c.512_515del:p.R171Qfs*155	.	.	446	735	288	11	42	352	0.174157	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1786	1287.27	108	chr10	125003006	.	TATCC	CATCC,T	1287.27	.	AC=4,1;AF=0.143,0.036;AN=28;BaseQRankSum=-2.008e+00;DP=2685;ExcessHet=1.1607;FS=1.860;InbreedingCoeff=-0.2572;MLEAC=5,1;MLEAF=0.179,0.036;MQ=57.16;MQRankSum=-5.258e+00;QD=2.83;ReadPosRankSum=0.793;SOR=0.977	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:94,9,0:103:95:0|1:125003006_T_C:95,0,3920,378,3947,4325:125003006	9	0	4	7
chr10	125003008	125003008	T	C	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon3:c.A514G:p.I172V	.	.	445	756	296	11	14	332	0.17377	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.269	B	0.279	B	0.000	D	1.000	D	0.59	N	0.75	T	-0.924	T	0.114	T	0.644	1.971	12.55	4.94	1.998	8.040	14.902	0.268	0.00473531755394	.	.	.	.	.	.	.	.	.	.	0.0001153	3	26028	rs112508291	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07	0.49117	T	0.225	0.53426	T	0.077	0.31731	B	0.17	0.40265	B	0.000000	0.84330	D	0.041576	0.999999	0.58761	D	0.695	0.17993	N	0.75	0.50192	T	-0.79	0.24026	N	0.556	0.58202	-0.9237	0.45041	T	0.114	0.40582	T	10	0.38906825	0.54757	T	0.004735	0.11784	T	0.268	0.58254	0.543	0.65589	0.617811438573	0.61472	0.8191908894802049	0.81876	0.844564219319	0.68219	0.727838099003	0.71190	T	0.212424	0.57347	T	0.0218691	0.54635	T	-0.206363	0.54044	T	0.846796572208405	0.49891	D	0.80082	0.44648	T	0.6371357	0.74678	0.6131621	0.77490	0.6371357	0.74680	0.6131621	0.77491	-10.157	0.74846	D	.	.	0.354	0.56812	A	.;.;.;.;.;.	.;.;.;.;.;.	4.218404	0.63791	24.6	0.9760612770993129	0.34876	0.96140	0.67716	D	AEFDGBCI	0.953944	0.97066	D	-0.0415507725916174	0.39979	2.366619	0.072950189852906	0.43195	2.62624	0.999999999999936	0.74766	0.722319	0.85440	0	0.588066	0.40923	0	0.698795	0.65105	0	0.711	0.71501	0	.	.	4.94	4.94	0.64645	6.271000	0.72566	7.738000	0.67953	0.661000	0.55757	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:0.0:0.0:1.0	14.902	0.70330	925	0.17918	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;.;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.1786	504.44	107	chr10	125003008	.	T	C,*	504.44	.	AC=4,1;AF=0.143,0.036;AN=28;BaseQRankSum=-2.114e+00;DP=2666;ExcessHet=1.1607;FS=1.860;InbreedingCoeff=-0.2600;MLEAC=5,1;MLEAF=0.179,0.036;MQ=57.08;MQRankSum=-5.258e+00;QD=1.11;ReadPosRankSum=1.08;SOR=0.976	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:95,9,0:104:92:0|1:125003006_T_C:92,0,3954,378,3981,4359:125003006	9	0	4	7
chr10	125003008	125003008	T	0	exonic	CTBP2	.	.	.	.	.	445	756	296	11	14	332	0.17377	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1786	504.44	107	chr10	125003008	.	T	C,*	504.44	.	AC=4,1;AF=0.143,0.036;AN=28;BaseQRankSum=-2.114e+00;DP=2666;ExcessHet=1.1607;FS=1.860;InbreedingCoeff=-0.2600;MLEAC=5,1;MLEAF=0.179,0.036;MQ=57.08;MQRankSum=-5.258e+00;QD=1.11;ReadPosRankSum=1.08;SOR=0.976	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:95,9,0:104:92:0|1:125003006_T_C:92,0,3954,378,3981,4359:125003006	9	0	4	7
chr10	125003010	125003010	C	T	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon3:c.G512A:p.R171Q	.	.	444	756	297	11	14	333	0.174222	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.997	D	0.955	D	0.000	D	1.000	D	2.595	M	0.74	T	-0.368	T	0.302	T	0.95	3.888	19.76	4.04	1.230	7.818	13.592	0.504	0.05280934696	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs760489730	3.421e-06	3.42e-06	4.084e-06	2.751e-06	2.698e-06	1e-06	7.3e-07	7.2e-07	2e-07	0	0	0	0	0	0	2.698e-06	3.312e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.034	0.49117	D	0.097	0.47828	T	0.981	0.70673	D	0.87	0.69585	P	0.000002	0.62929	D	0.103452	0.999999	0.58761	D	1.885	0.50048	L	0.74	0.50459	T	-3.3	0.70553	D	0.879	0.89020	-0.3679	0.73025	T	0.302	0.67288	T	10	0.8397628	0.83130	D	0.052809	0.65217	D	0.504	0.78600	0.649	0.78648	0.920337149778	0.91953	0.9496583447662756	0.94948	2.13197071687	0.95171	0.73884499073	0.72801	T	0.615991	0.87897	D	0.255676	0.79129	D	0.129484	0.78858	D	0.985857844352722	0.76728	D	0.876112	0.58827	D	0.93815976	0.95059	0.8432051	0.91051	0.93815976	0.95060	0.8432051	0.91051	-13.433	0.93329	D	.	.	0.974	0.90036	P	.;.;.;.;.;.	.;.;.;.;.;.	5.858587	0.93846	33	0.99909411540893078	0.97949	0.95340	0.64339	D	AEFDGBCI	0.924502	0.90264	D	0.389332597998194	0.60844	4.277879	0.288795626305503	0.54883	3.652246	0.999999999992808	0.74766	0.722319	0.85440	0	0.588066	0.40923	0	0.698795	0.65105	0	0.711	0.71501	0	.	.	4.94	4.04	0.46262	6.159000	0.71664	3.924000	0.40490	0.596000	0.33519	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:0.9243:0.0:0.0757	13.592	0.61434	925	0.17918	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;.;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.2143	517.97	102	chr10	125003010	.	C	T,*	517.97	.	AC=5,1;AF=0.179,0.036;AN=28;BaseQRankSum=-1.274e+00;DP=2706;ExcessHet=1.7912;FS=3.146;InbreedingCoeff=-0.2869;MLEAC=6,1;MLEAF=0.214,0.036;MQ=57.13;MQRankSum=-5.988e+00;QD=0.93;ReadPosRankSum=0.743;SOR=1.184	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:95,9,0:104:92:0|1:125003006_T_C:92,0,3954,378,3981,4359:125003006	8	0	5	7
chr10	125003010	125003010	C	0	exonic	CTBP2	.	.	.	.	.	444	756	297	11	14	333	0.174222	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2143	517.97	102	chr10	125003010	.	C	T,*	517.97	.	AC=5,1;AF=0.179,0.036;AN=28;BaseQRankSum=-1.274e+00;DP=2706;ExcessHet=1.7912;FS=3.146;InbreedingCoeff=-0.2869;MLEAC=6,1;MLEAF=0.214,0.036;MQ=57.13;MQRankSum=-5.988e+00;QD=0.93;ReadPosRankSum=0.743;SOR=1.184	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:95,9,0:104:92:0|1:125003006_T_C:92,0,3954,378,3981,4359:125003006	8	0	5	7
chr10	125003036	125003036	C	A	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon3:c.G486T:p.K162N	.	.	419	630	463	10	0	483	0.277108	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.986	D	0.89	P	0.000	N	1.000	D	1.515	L	0.72	T	-0.828	T	0.177	T	0.518	2.828	15.42	4.03	1.204	2.555	6.007	0.295	0.0466189854146	.	.	.	.	.	.	.	.	.	.	6.5e-06	1	154602	rs201760950	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.568e-06	6.566e-06	1.284e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.04	0.43708	D	0.12	0.58089	T	0.986	0.61523	D	0.89	0.63157	P	0.000000	0.84330	N	0.042861	0.999994	0.58761	D	1.115	0.28702	L	0.72	0.50976	T	-4.42	0.80425	D	0.797	0.79696	-0.8284	0.53403	T	0.177	0.52272	T	10	0.7330282	0.74429	D	0.046619	0.62540	D	0.295	0.61502	0.506	0.60078	0.669401567584	0.66661	0.9683590239784833	0.96823	1.29775370337	0.82942	0.700282335281	0.67184	T	0.552971	0.84897	D	-0.0504497	0.44379	T	-0.310244	0.43632	T	0.989160597324371	0.79417	D	0.748325	0.36895	T	0.7315896	0.79813	0.47296822	0.69449	0.7315896	0.79814	0.47296822	0.69450	-15.293	0.98237	D	.	.	0.987	0.92764	P	.;.;.;.;.;.	.;.;.;.;.;.	4.828208	0.78704	27.0	0.99659729855249335	0.77883	0.88851	0.48981	D	AEFDGBCI	0.619890	0.60515	D	0.116058801363205	0.47212	2.950075	0.0734135689233688	0.43216	2.628043	0.999999959797154	0.74766	0.722319	0.85440	0	0.633656	0.55848	0	0.698795	0.65105	0	0.711	0.71501	0	.	.	4.94	4.03	0.46115	2.713000	0.46862	1.753000	0.28490	-0.180000	0.10397	1.000000	0.71638	1.000000	0.68203	0.924000	0.46004	0.1568:0.6905:0.0:0.1528	6.007	0.18780	925	0.17918	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;.;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.1786	1327.89	96	chr10	125003036	.	C	A	1327.89	.	AC=5;AF=0.179;AN=28;BaseQRankSum=-2.315e+00;DP=2688;ExcessHet=1.1607;FS=7.390;InbreedingCoeff=-0.2539;MLEAC=7;MLEAF=0.250;MQ=56.90;MQRankSum=-6.218e+00;QD=2.82;ReadPosRankSum=1.58;SOR=1.472	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:99,9:108:80:0|1:125003036_C_A:80,0,4113:125003036	9	0	5	7
chr10	125003062	125003062	T	A	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon3:c.A460T:p.T154S	.	.	411	643	453	15	0	483	0.273036	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.041	B	0.069	B	0.000	N	0.999	D	1.21	L	-1.93	D	-0.330	T	0.453	T	0.622	2.408	14.01	3.79	0.824	5.018	11.226	0.491	0.0483128458714	.	.	.	.	.	.	.	.	.	.	0.0001921	5	26028	rs3198936	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.189	0.41637	T	0.522	0.36901	T	0.007	0.21357	B	0.008	0.27757	B	0.000000	0.84330	N	0.044612	0.996569	0.47043	D	1.065	0.27018	L	-1.93	0.84842	D	-3.0	0.65283	D	0.671	0.67908	-0.3304	0.74122	T	0.453	0.78662	T	10	0.56667346	0.65089	D	0.048313	0.63318	D	0.491	0.77783	0.57	0.69299	0.899189000732	0.89818	0.8017034108621458	0.80124	0.863764543004	0.69092	0.755492687225	0.75259	T	0.411071	0.76563	T	0.128098	0.67174	D	-0.0537727	0.66764	D	0.93286007642746	0.59920	D	0.675032	0.28342	T	0.4517838	0.64154	0.32242507	0.58182	0.4517838	0.64154	0.32242507	0.58182	-10.785	0.78466	D	.	.	0.259	0.49334	B	.;.;.;.;.;.	.;.;.;.;.;.	5.379924	0.90166	31	0.92993315479242666	0.22579	0.88414	0.48331	D	AEFDGBCI	0.628457	0.61053	D	-0.327467056762658	0.28109	1.547675	-0.174877914286987	0.32463	1.847172	0.999999921045429	0.74766	0.722319	0.85440	0	0.633656	0.55848	0	0.698795	0.65105	0	0.711	0.71501	0	.	.	4.94	3.79	0.42757	4.998000	0.63670	6.076000	0.53302	0.661000	0.55757	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.1374:0.0:0.0:0.8626	11.226	0.48116	925	0.17918	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2143	1345.64	103	chr10	125003062	.	T	A	1345.64	.	AC=6;AF=0.214;AN=28;BaseQRankSum=-1.762e+00;DP=2793;ExcessHet=1.7912;FS=10.332;InbreedingCoeff=-0.3044;MLEAC=8;MLEAF=0.286;MQ=57.06;MQRankSum=-6.687e+00;QD=2.31;ReadPosRankSum=1.25;SOR=1.609	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:104,10:114:46:0|1:125003062_T_A:46,0,4237:125003062	8	0	6	7
chr10	125003065	125003065	T	A	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon3:c.A457T:p.I153F	.	.	409	645	453	15	0	483	0.27242	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.972	D	0.946	D	0.000	N	1.000	D	1.455	L	0.6	T	-0.651	T	0.246	T	0.862	4.563	24.7	3.79	0.824	8.033	11.226	0.503	0.0700064426899	.	.	.	.	.	.	.	.	.	.	0.0001921	5	26028	rs75794788	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.65419	D	0.25	0.48855	T	0.964	0.55854	D	0.865	0.63213	P	0.000000	0.84330	N	0.045107	1	0.81001	D	1.03	0.25572	L	0.6	0.53731	T	-3.56	0.72471	D	0.881	0.88909	-0.6507	0.62684	T	0.246	0.61530	T	10	0.75938225	0.76228	D	0.070006	0.70884	D	0.503	0.78538	0.497	0.58678	0.79712420435	0.79523	0.952589839956618	0.95242	2.43300071254	0.97277	0.815389215946	0.84320	D	0.550178	0.84755	D	0.238164	0.77489	D	0.10433	0.77195	D	0.969830691814423	0.68732	D	0.789321	0.42944	T	0.9161864	0.92879	0.80227107	0.88412	0.9161864	0.92880	0.80227107	0.88413	-16.606	0.99306	D	.	.	0.965	0.88639	P	.;.;.;.;.;.	.;.;.;.;.;.	5.439656	0.90921	32	0.9869222858790262	0.44780	0.95041	0.63223	D	AEFDGBCI	0.932153	0.92207	D	0.318344020359099	0.57088	3.875162	0.3071809800043	0.55960	3.758966	0.999999998494387	0.74766	0.722319	0.85440	0	0.633656	0.55848	0	0.698795	0.65105	0	0.711	0.71501	0	.	.	4.94	3.79	0.42757	7.961000	0.87447	6.071000	0.53257	0.661000	0.55757	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.1374:0.0:0.0:0.8626	11.226	0.48116	925	0.17918	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;.;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.2143	1343.45	102	chr10	125003065	.	T	A	1343.45	.	AC=6;AF=0.214;AN=28;BaseQRankSum=-1.729e+00;DP=2798;ExcessHet=1.7912;FS=10.427;InbreedingCoeff=-0.3097;MLEAC=8;MLEAF=0.286;MQ=57.07;MQRankSum=-6.630e+00;QD=2.30;ReadPosRankSum=1.20;SOR=1.604	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:104,10:114:46:0|1:125003062_T_A:46,0,4237:125003062	8	0	6	7
chr10	128103278	128103278	C	G	exonic	MKI67	.	nonsynonymous SNV	MKI67:NM_001145966:exon12:c.G7482C:p.E2494D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	T	0.997	D	0.939	D	.	.	1.000	N	0.965	L	3.49	T	-1.029	T	0.021	T	0.112	2.471	14.22	-4.34	-0.541	-0.709	0.177	0.115	0.00226310355017	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.613e-06	0.0004	1.093e-05	8.279e-06	1.174e-05	5.58e-06	4.36e-06	6.55e-06	5.05e-06	0	0	0	0	0	0	1.174e-05	1.66e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.204	0.20078	T	0.119	0.36101	T	0.997	0.70673	D	0.939	0.67449	D	.	.	.	.	1	0.08975	N	2.195	0.61839	M	3.49	0.05071	T	-0.88	0.23808	N	0.094	0.16725	-1.0286	0.20908	T	0.021	0.08686	T	9	0.13874048	0.26384	T	0.002263	0.04314	T	0.115	0.32236	0.551	0.66716	0.384086055536	0.38021	0.023012059597842277	0.02253	0.253544675859	0.27924	0.240642219782	0.02849	T	0.008993	0.08212	T	-0.312787	0.07504	T	-0.687073	0.06561	T	0.265743708034814	0.23564	T	0.50475	0.15921	T	0.117704056	0.27745	0.10210266	0.24462	0.117704056	0.27744	0.10210266	0.24461	-6.721	0.51969	T	.	.	0.118	0.24260	B	.;.	.;.	0.238562	0.06189	2.640	0.97958759839123999	0.37158	0.05950	0.11907	N	AEFDGBCI	0.035951	0.04710	N	-0.653155426560856	0.17368	0.8931397	-0.910198625553295	0.11853	0.6063969	0.999999978715648	0.74766	0.706548	0.73137	0	0.697927	0.68747	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.3	-4.34	0.03412	-0.632000	0.05587	-5.532000	0.01685	0.454000	0.21428	0.000000	0.06391	0.000000	0.08366	0.006000	0.07323	0.2747:0.1905:0.269:0.2659	0.177	0.00111	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	0.025	224.33	145	chr10	128103278	.	C	G	224.33	.	AC=1;AF=0.025;AN=40;BaseQRankSum=-6.054e+00;DP=2113;ExcessHet=0.0000;FS=122.437;InbreedingCoeff=-0.0370;MLEAC=1;MLEAF=0.025;MQ=60.00;MQRankSum=0.00;QD=1.21;ReadPosRankSum=2.30;SOR=7.111	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:152,34:186:99:0|1:128103278_C_G:238,0,5724:128103278	19	0	1	1
chr10	128103280	128103280	C	G	exonic	MKI67	.	nonsynonymous SNV	MKI67:NM_001145966:exon12:c.G7480C:p.E2494Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.17	T	0.998	D	0.96	D	.	.	1.000	N	2.005	M	3.45	T	-1.055	T	0.038	T	0.093	2.378	13.91	1.02	0.328	0.216	4.010	0.052	0.00403197585609	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.485e-06	0.0003	2.729e-06	8.268e-06	7.214e-06	2.36e-06	1.71e-06	3.1e-06	2.24e-06	0	0	0	0	0	0	7.214e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.053	0.38863	T	0.177	0.31730	T	0.998	0.73220	D	0.96	0.70309	D	.	.	.	.	1	0.08975	N	2.195	0.61839	M	3.45	0.05311	T	-0.8	0.22078	N	0.109	0.19459	-1.0547	0.13119	T	0.038	0.16505	T	9	0.17886433	0.32993	T	0.004032	0.09587	T	0.052	0.14661	0.541	0.65304	0.518970300747	0.51540	0.04773937039326191	0.04716	0.283620578612	0.30797	0.235243186355	0.02379	T	0.011953	0.10589	T	-0.3115	0.07616	T	-0.685224	0.06669	T	0.250668425890041	0.22903	T	0.577942	0.20808	T	0.13167799	0.30686	0.09273483	0.21870	0.13167799	0.30685	0.09273483	0.21869	-8.247	0.62741	D	.	.	0.149	0.33039	B	.;.	.;.	0.759877	0.11298	7.920	0.98886276083847624	0.47912	0.20083	0.20908	N	AEFDGBCI	0.033550	0.04004	N	-0.293471082601323	0.29398	1.630002	-0.540287322695226	0.21065	1.137768	0.999999740880393	0.74766	0.706548	0.73137	0	0.697927	0.68747	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.21	1.02	0.19102	-0.203000	0.09440	-1.074000	0.06411	0.454000	0.21428	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.1866:0.5896:0.0:0.2238	4.010	0.09108	970	0.06235	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03333	110.45	133	chr10	128103280	.	C	G	110.45	.	AC=1;AF=0.033;AN=30;BaseQRankSum=-4.398e+00;DP=2285;ExcessHet=0.0000;FS=93.574;InbreedingCoeff=-0.1054;MLEAC=1;MLEAF=0.033;MQ=60.00;MQRankSum=0.00;QD=0.65;ReadPosRankSum=1.17;SOR=6.517	GT:AD:DP:GQ:PL	0/1:152,18:177:99:122,0,5765	14	0	1	6
chr10	128103281	128103281	C	G	exonic	MKI67	.	nonsynonymous SNV	MKI67:NM_001145966:exon12:c.G7479C:p.E2493D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.45	T	1.0	D	0.998	D	.	.	1.000	N	1.385	L	3.72	T	-1.007	T	0.023	T	0.208	1.951	12.48	-2.02	-0.539	-0.352	4.172	0.087	0.00413029876425	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	2.599e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.107	0.31235	T	0.445	0.13140	T	1.0	0.90584	D	0.998	0.88582	D	.	.	.	.	1	0.08975	N	1.795	0.47270	L	3.72	0.04014	T	-0.57	0.17210	N	0.139	0.20528	-1.0070	0.27850	T	0.023	0.09832	T	9	0.17917964	0.33039	T	0.00413	0.09900	T	0.087	0.25287	0.554	0.67133	0.342168650903	0.33825	0.036519337438074756	0.03598	0.227472622474	0.25299	0.246916860342	0.03450	T	0.009336	0.08507	T	-0.289186	0.09718	T	-0.653172	0.08733	T	0.232997477054596	0.22093	T	0.413959	0.10802	T	0.062381484	0.13023	0.07715427	0.17160	0.062381484	0.13023	0.07715427	0.17160	-7.036	0.54296	T	.	.	0.173	0.37969	B	.;.	.;.	-0.254554	0.02823	0.391	0.97478973749574904	0.34178	0.08471	0.14396	N	AEFDGBCI	0.035167	0.04481	N	-0.763170779599195	0.14277	0.7099313	-1.00746602192106	0.09620	0.4796704	0.999999819180609	0.74766	0.706548	0.73137	0	0.697927	0.68747	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.21	-2.02	0.06981	-1.009000	0.03770	-7.411000	0.01162	-1.323000	0.01224	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.0:0.3205:0.1775:0.502	4.172	0.09795	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	0.02778	228.09	136	chr10	128103281	.	C	G	228.09	.	AC=1;AF=0.028;AN=36;BaseQRankSum=-6.664e+00;DP=2254;ExcessHet=0.0000;FS=121.561;InbreedingCoeff=-0.0633;MLEAC=1;MLEAF=0.028;MQ=60.00;MQRankSum=0.00;QD=1.23;ReadPosRankSum=2.09;SOR=7.111	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:151,34:185:99:0|1:128103278_C_G:241,0,5690:128103278	17	0	1	3
chr10	133128436	133128436	G	A	exonic	ADGRA1	.	nonsynonymous SNV	ADGRA1:NM_001291085:exon4:c.G317A:p.R106H	.	.	418	1102	2	0	0	2	0.000906618	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	0.911	P	0.557	P	0.000	D	1.000	D	2.065	M	1.07	T	-0.789	T	0.164	T	0.479	4.547	24.6	4.85	2.419	4.327	15.822	0.167	0.0229794724119	.	.	1.415e-05	0.0002	0	0	0	0	0	0	6.5e-06	1	154602	rs764981996	3.376e-05	3.762e-05	3.014e-05	3.742e-05	0.0004	2.584e-05	2.328e-05	6.236e-05	2.575e-05	9.109e-05	0	0	0	1.961e-05	0.0004	3.158e-05	0.0001	2.359e-05	1.971e-05	1.97e-05	2.57e-05	1.345e-05	4.826e-05	5.24e-06	2.45e-06	8e-06	2.99e-06	4.826e-05	0	0	0	0	0	0	1.47e-05	0	0	0.013	0.65419	D	0.005	0.74150	D	0.865	0.50336	P	0.45	0.49454	P	0.000010	0.62929	D	0.000000	0.999535	0.47451	D	.	.	.	1.07	0.46028	T	-3.6	0.72710	D	0.21	0.49237	-0.7890	0.55788	T	0.164	0.50029	T	10	0.2514323	0.42483	T	0.022979	0.45913	T	0.167	0.42761	.	.	0.562188709859	0.55881	0.5394102907029571	0.53866	1.38279539762	0.84817	0.850356698036	0.89669	D	0.134504	0.46579	T	0.00667798	0.52571	T	-0.228184	0.51947	T	0.966389179229736	0.67566	D	0.958404	0.88325	D	0.4890437	0.66445	0.39176416	0.63939	0.4890437	0.66446	0.39176416	0.63939	-8.414	0.63858	D	.	.	0.244	0.47794	B	.;.;.	.;.;.	4.833421	0.78843	27.0	0.99951199379917866	0.99944	0.78595	0.38800	D	AEFDBI	0.672005	0.63856	D	0.446055468506146	0.63978	4.642575	0.45014916516137	0.64725	4.734547	0.878693008669288	0.25571	0.403107	0.06075	0	0.547309	0.14657	0	0.578056	0.29568	0	0.562822	0.20929	0	.	.	4.85	4.85	0.62375	4.568000	0.60573	8.294000	0.76922	0.495000	0.22486	1.000000	0.71638	1.000000	0.68203	0.812000	0.38265	0.0:0.0:1.0:0.0	15.822	0.78443	994	0.00715	.;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	0	0	0	0	0.02381	1581.98	33	chr10	133128436	.	G	A	1581.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.573;DP=836;ExcessHet=0.0000;FS=0.673;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.97;ReadPosRankSum=1.33;SOR=0.638	GT:AD:DP:GQ:PL	0/1:61,61:122:99:1596,0,1484	20	0	1	0
chr10	133183921	133183921	G	A	exonic	KNDC1	.	nonsynonymous SNV	KNDC1:NM_152643:exon5:c.G557A:p.R186H,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.22	T	0.354	B	0.016	B	0.114	N	0.997	N	1.61	L	2.64	T	-1.053	T	0.029	T	0.174	1.219	9.946	-1.48	-0.156	0.506	3.442	0.042	0.00594117109914	.	.	8.37e-06	0	0	0	0	0	0	6.473e-05	6.5e-06	1	154602	rs763861007	5.51e-06	8.209e-06	4.102e-06	6.939e-06	3.5e-05	2.37e-06	1.71e-06	9.3e-06	4.58e-06	0	0	0	0	0	0	3.621e-06	1.671e-05	3.5e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.156	0.27783	T	0.204	0.41742	T	0.007	0.33710	B	0.001	0.17743	B	0.113627	0.19308	N	0.459833	0.996613	0.22959	N	.	.	.	2.64	0.18875	T	-1.88	0.45404	N	0.197	0.21710	-1.0527	0.13655	T	0.029	0.12673	T	10	0.063792765	0.08363	T	0.005941	0.15490	T	0.042	0.11227	0.382	0.39970	0.141422826196	0.13715	0.2096099483935992	0.20876	0.757923585478	0.64099	0.288371533155	0.08685	T	0.052324	0.29130	T	-0.218062	0.18257	T	-0.551008	0.17229	T	0.229088857769966	0.21908	T	0.775622	0.42574	T	0.038623996	0.05182	0.034670252	0.02574	0.038623996	0.05182	0.034670252	0.02574	-4.388	0.29394	T	.	.	0.081	0.10111	B	.;.	.;.	2.184305	0.27845	17.60	0.98553652394448754	0.42884	0.33653	0.24880	N	AEFDBI	0.061758	0.11828	N	-0.557283904420672	0.20257	1.066486	-0.550882703489595	0.20783	1.121305	0.0217318027201447	0.13373	0.718356	0.82227	0	0.578056	0.33634	0	0.570548	0.19454	0	0.562822	0.20929	0	.	.	4.15	-1.48	0.08286	0.725000	0.25638	3.563000	0.39095	0.674000	0.70861	0.999000	0.42656	1.000000	0.68203	0.427000	0.27384	0.4708:0.0:0.3435:0.1857	3.442	0.07036	994	0.00715	KIND domain|KIND 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	1486.98	33	chr10	133183921	.	G	A	1486.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.51;DP=957;ExcessHet=0.0000;FS=2.072;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.12;ReadPosRankSum=-4.110e-01;SOR=0.599	GT:AD:DP:GQ:PL	0/1:84,63:147:99:1501,0,1937	20	0	1	0
chr10	133186208	133186208	G	C	exonic	KNDC1	.	nonsynonymous SNV	KNDC1:NM_152643:exon6:c.G860C:p.R287P,	.	.	408	1110	4	0	0	4	0.00179856	.	.	2325030	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.21	T	0.742	P	0.211	B	0.954	N	1.000	N	0.805	L	2.67	T	-1.034	T	0.031	T	0.23	0.336	5.823	2.27	1.056	0.067	4.953	0.017	0.00865584916163	.	.	0.0003	0	0	0	0	0.0003	0	0.0013	0.0002199	34	154602	rs752105461	0.0002	0.0002	0.0001	0.0002	0.0025	0.0002	0.0002	0.0015	0.0012	3.092e-05	5.041e-05	0.0026	0	2.024e-05	0.0025	8.249e-05	0.0004	0.0009	0.0002	0.0002	0.0002	0.0003	0.0012	0.0001	0.0001	0.0005	0.0004	2.407e-05	0	6.534e-05	0.0035	0	0	0	0.0001	0.0005	0.0012	0.297	0.15458	T	0.316	0.19362	T	0.494	0.43019	P	0.077	0.37346	B	0.953897	0.07674	N	1.026230	1	0.08975	N	.	.	.	2.67	0.18724	T	-1.15	0.29525	N	0.174	0.23884	-1.0338	0.19236	T	0.031	0.13330	T	10	0.011535138	0.00252	T	0.008656	0.22878	T	0.017	0.02790	0.262	0.20631	0.170165803431	0.16609	0.2459666774567312	0.24510	0.270215761304	0.29546	0.357813179493	0.19066	T	0.033244	0.22831	T	-0.522275	0.00427	T	-0.600975	0.12730	T	0.017870412163044	0.00514	T	0.335566	0.07155	T	0.16667916	0.37019	0.08654457	0.20057	0.16667916	0.37019	0.08654457	0.20057	-3.828	0.21223	T	.	.	0.120	0.29833	B	.;.	.;.	0.773306	0.11435	8.041	0.92218175862570817	0.21592	0.03967	0.09375	N	AEFDBI	0.103335	0.20706	N	-0.671549333671584	0.16835	0.8612437	-0.756511160625438	0.15562	0.8190947	0.0406992602695945	0.14451	0.695654	0.57023	0	0.547309	0.14657	0	0.723109	0.80598	0	0.562822	0.20929	0	.	.	4.21	2.27	0.27501	-0.015000	0.12572	0.119000	0.14890	0.647000	0.52776	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.1169:0.2216:0.6614:0.0	4.953	0.13373	994	0.00715	.;.	.	.	.	.	.	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	1189.98	34	chr10	133186208	.	G	C	1189.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.69;DP=1001;ExcessHet=0.0000;FS=11.752;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=18.31;ReadPosRankSum=-1.298e+00;SOR=0.117	GT:AD:DP:GQ:PL	0/1:27,38:65:99:1204,0,754	20	0	1	0
chr10	133186417	133186417	G	A	exonic	KNDC1	.	nonsynonymous SNV	KNDC1:NM_152643:exon6:c.G1069A:p.A357T,	.	.	427	1091	4	0	0	4	0.00182983	.	.	2325297	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	1	T	0.041	B	0.018	B	0.558	N	1.000	N	0.145	N	2.55	T	-1.007	T	0.021	T	0.029	0.095	4.514	-1.69	-0.434	-0.933	4.321	0.011	0.00875637007389	.	.	0.0003	0	0	0	0	0.0003	0	0.0010	0.0002911	45	154602	rs201959912	0.0002	0.0002	0.0001	0.0002	0.0024	0.0002	0.0002	0.0015	0.0012	2.987e-05	4.474e-05	0.0025	0	1.919e-05	0.0024	8.634e-05	0.0004	0.0010	0.0002	0.0002	0.0002	0.0002	0.0012	0.0001	0.0001	0.0005	0.0004	2.405e-05	0	0.0001	0.0035	0	0	0	0.0001	0.0005	0.0012	1.0	0.00964	T	1.0	0.02693	T	0.006	0.21357	B	0.005	0.18489	B	0.558271	0.05410	N	1.271130	1	0.08975	N	.	.	.	2.55	0.20122	T	0.06	0.06488	N	0.029	0.00825	-1.0068	0.27912	T	0.021	0.08778	T	10	0.0071769655	0.00163	T	0.008756	0.23123	T	0.011	0.01250	0.07	0.00395	0.0297737177859	0.01360	0.23967221302424227	0.23881	0.177105754943	0.19927	0.287326157093	0.08534	T	0.027076	0.19905	T	-0.683419	0.00046	T	-0.827265	0.01311	T	0.00770742257572953	0.00090	T	0.393061	0.09795	T	0.032224067	0.03207	0.044767126	0.05872	0.032224067	0.03207	0.044767126	0.05872	-4.169	0.26301	T	.	.	0.092	0.13690	B	.;.	.;.	-0.188007	0.03153	0.510	0.58031025430780836	0.05901	0.01706	0.05419	N	AEFDBI	0.039509	0.05748	N	-1.54109555196729	0.01587	0.06935517	-1.55758168669406	0.01924	0.08779216	0.0235786180357086	0.13517	0.695654	0.57023	0	0.547309	0.14657	0	0.723109	0.80598	0	0.562822	0.20929	0	.	.	3.91	-1.69	0.07747	-1.269000	0.02942	-0.171000	0.11226	-1.775000	0.00659	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.4341:0.1677:0.3982:0.0	4.321	0.10456	994	0.00715	.;.	.	.	.	.	.	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	982.98	34	chr10	133186417	.	G	A	982.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.564;DP=1056;ExcessHet=0.0000;FS=3.921;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.93;ReadPosRankSum=0.018;SOR=0.364	GT:AD:DP:GQ:PL	0/1:60,39:99:99:997,0,1546	20	0	1	0
chr11	211350	211350	G	T	splicing	RIC8A	NM_021932:exon5:c.969+1G>T;NM_001286134:exon5:c.969+1G>T	.	.	.	.	.	.	.	.	.	.	.	1.0000	0.93	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.000	D	.	.	.	.	.	.	.	.	.	4.204	21.8	4.16	2.264	9.778	16.311	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.415377	0.90776	D	0.358884	0.90661	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.	.;.;.	6.541481	0.95375	34	0.9950344817864466	0.68147	0.99734	0.99061	D	AEFBI	.	.	.	1.14457212292051	0.98877	19.71724	0.963275375878648	0.97782	16.75588	0.999999999999858	0.74766	0.12324	0.03125	0	0.177374	0.04040	0	0.12342	0.03364	0	0.119812	0.03901	0	0.985242	0.92850	4.16	4.16	0.48138	9.994000	0.99266	11.189000	0.88595	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.990000	0.65344	0.0:0.0:1.0:0.0	16.311	0.82699	774	0.48577	.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1313.98	34	chr11	211350	.	G	T	1313.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.72;DP=803;ExcessHet=0.0000;FS=2.692;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.76;ReadPosRankSum=-6.270e-01;SOR=1.059	GT:AD:DP:GQ:PL	0/1:53,50:103:99:1328,0,1363	20	0	1	0
chr11	640090	640090	G	0	exonic	DRD4	.	.	.	Autonomic nervous system dysfunction (3)	.	623	857	15	8	19	50	0.017765	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	599.75	23	chr11	640090	.	G	C,*	599.75	.	AC=2,1;AF=0.056,0.028;AN=36;BaseQRankSum=-1.502e+00;DP=553;ExcessHet=0.3672;FS=2.997;InbreedingCoeff=0.0028;MLEAC=2,1;MLEAF=0.056,0.028;MQ=59.46;MQRankSum=0.901;QD=7.06;ReadPosRankSum=1.91;SOR=0.623	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:23,8,0:31:99:.:.:214,0,934,283,959,1242	15	0	2	3
chr11	640098	640098	C	0	exonic	DRD4	.	.	.	Autonomic nervous system dysfunction (3)	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	105.38	27	chr11	640098	.	C	CGGCCTCCCCCCGG,*	105.38	.	AC=1,1;AF=0.025,0.025;AN=40;BaseQRankSum=1.12;DP=602;ExcessHet=0.1128;FS=5.993;InbreedingCoeff=0.1624;MLEAC=1,1;MLEAF=0.025,0.025;MQ=59.13;MQRankSum=-1.396e+00;QD=1.79;ReadPosRankSum=-5.570e-01;SOR=1.134	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:28,5,0:33:99:.:.:119,0,1039,206,1054,1259	18	0	1	1
chr11	640099	640099	A	0	exonic	DRD4	.	.	.	Autonomic nervous system dysfunction (3)	.	654	794	37	18	19	92	0.0439494	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1053	1313.13	27	chr11	640099	.	A	G,*	1313.13	.	AC=3,1;AF=0.079,0.026;AN=38;BaseQRankSum=-7.890e-01;DP=605;ExcessHet=0.7148;FS=3.595;InbreedingCoeff=-0.0112;MLEAC=3,1;MLEAF=0.079,0.026;MQ=59.62;MQRankSum=0.00;QD=13.13;ReadPosRankSum=1.12;SOR=0.861	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:20,8,0:33:99:.:.:323,0,791,342,800,1127	15	0	3	2
chr11	788329	788329	G	A	exonic	CEND1	.	nonsynonymous SNV	CEND1:NM_016564:exon2:c.C248T:p.T83M,	.	.	412	1108	2	0	0	2	0.000901713	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.856	P	0.12	B	0.763	N	1.000	N	0.345	N	.	.	-1.023	T	0.032	T	0.082	1.749	11.81	-0.863	0.149	0.227	5.379	0.076	0.0195572039449	0.0002	0.000399361	0.0007	0	0.0002	0	0	0.0002	0	0.0045	0.0005886	91	154602	rs151228190	0.0003	0.0003	0.0002	0.0004	0.0041	0.0003	0.0003	0.0038	0.0036	0.0002	0.0002	0.0002	2.534e-05	0	0.0012	5.876e-05	0.0003	0.0041	0.0002	0.0002	0.0002	0.0003	0.0048	0.0002	0.0002	0.0033	0.0028	7.214e-05	0	6.536e-05	0.0003	0	0	0.0034	0.0001	0.0005	0.0048	0.014	0.53172	D	0.112	0.37037	T	0.856	0.47190	P	0.12	0.32230	B	0.762605	0.06549	N	1.172180	1	0.08975	N	1.355	0.33814	L	.	.	.	-2.08	0.47514	N	0.117	0.10626	-1.0228	0.22802	T	0.032	0.13854	T	9	0.004807502	0.00102	T	0.019557	0.41954	T	0.076	0.22200	.	.	0.0675242888579	0.06100	0.09491339850870163	0.09423	0.611461496872	0.55781	0.597488880157	0.52551	T	0.257557	0.62860	T	-0.558703	0.00258	T	-0.575596	0.14941	T	0.0459094398721334	0.04768	T	0.538946	0.18179	T	0.04137023	0.06080	0.04689152	0.06637	0.04137023	0.06079	0.04689152	0.06636	-5.97	0.46028	T	.	.	0.102	0.17995	B	.	.	2.241438	0.28623	17.86	0.99594061383475463	0.73807	0.04518	0.10146	N	AEFBHCI	0.059699	0.11296	N	-0.725712243466148	0.15301	0.7699299	-0.834390783387769	0.13663	0.7100122	0.999957833939911	0.48110	0.660377	0.49826	0	0.627608	0.54475	0	0.596874	0.31795	0	0.592323	0.36904	0	.	.	4.63	-0.863	0.10129	0.373000	0.20215	0.776000	0.21438	0.676000	0.76740	0.000000	0.06391	0.000000	0.08366	0.028000	0.12845	0.4273:0.1438:0.4289:0.0	5.379	0.15483	884	0.28482	.	.	.	.	.	.	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	1192.98	34	chr11	788329	.	G	A	1192.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.78;DP=801;ExcessHet=0.0000;FS=3.993;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.40;ReadPosRankSum=1.51;SOR=0.979	GT:AD:DP:GQ:PL	0/1:44,45:89:99:1207,0,1002	20	0	1	0
chr11	802055	802055	C	G	exonic	PIDD1	.	nonsynonymous SNV	PIDD1:NM_145886:exon7:c.G1212C:p.Q404H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.13	T	0.547	P	0.173	B	0.151	N	1.000	N	0	N	0.99	T	-1.060	T	0.036	T	0.287	0.369	6.004	-1.76	-0.134	-0.408	0.880	0.040	0.00764316624184	.	.	0	0	0	0	0	0	0	0	6.5e-06	1	154602	rs773027217	0	6.84e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.125	0.27310	T	0.033	0.56640	D	0.001	0.09854	B	0.001	0.06944	B	0.151250	0.17961	N	0.387617	1	0.08975	N	-0.145	0.04423	N	0.99	0.41750	T	-0.68	0.23156	N	0.279	0.32481	-1.0600	0.11756	T	0.036	0.15553	T	10	0.06647012	0.09122	T	0.007643	0.20272	T	0.040	0.10527	0.43	0.47843	0.146414634003	0.14194	0.3280101491422312	0.32714	0.206122939684	0.23039	0.65406191349	0.60563	T	0.173428	0.52229	T	-0.227681	0.16956	T	-0.564825	0.15926	T	0.118001133203506	0.14233	T	0.523848	0.17156	T	0.05737887	0.11411	0.032557618	0.02011	0.05737887	0.11411	0.032557618	0.02011	-4.886	0.35577	T	.	.	0.128	0.27252	B	.;.	.;.	0.056054	0.04683	1.328	0.9520084986897025	0.26394	0.07295	0.13317	N	AEFBI	0.094938	0.19189	N	-1.04671694751752	0.07652	0.3561937	-1.09217734377025	0.07853	0.3837031	0.999555255181188	0.40362	0.67177	0.52595	0	0.702456	0.74545	0	0.723109	0.80598	0	0.635551	0.53088	0	.	.	4.35	-1.76	0.07574	-0.157000	0.10072	-0.839000	0.07224	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.006000	0.07323	0.418:0.2436:0.1424:0.196	0.880	0.01155	884	0.28482	.;ZU5 domain|ZU5 domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1046.98	35	chr11	802055	.	C	G	1046.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.52;DP=803;ExcessHet=0.0000;FS=0.832;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.46;ReadPosRankSum=9.000e-03;SOR=0.896	GT:AD:DP:GQ:PL	0/1:42,42:84:99:1061,0,968	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	0/2:416,0,128:544:99:3900,5196,22625,0,17170,16721	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|3:700,0,0,93:793:99:0|1:1017440_C_T:1733,3840,33073,3840,33073,33073,0,29233,29233,28953:1017440	0	0	4	1
chr11	1017465	1017465	C	0	exonic	MUC6	.	.	.	.	.	334	991	23	0	174	197	0.0114713	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2059	810.88	546	chr11	1017465	.	C	A,*	810.88	.	AC=2,5;AF=0.059,0.147;AN=34;BaseQRankSum=-3.140e-01;DP=13242;ExcessHet=2.5830;FS=0.000;InbreedingCoeff=-0.2727;MLEAC=2,6;MLEAF=0.059,0.176;MQ=55.99;MQRankSum=-7.141e+00;QD=0.16;ReadPosRankSum=-2.532e+00;SOR=0.707	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:700,0,93:793:99:0|1:1017440_C_T:1733,3840,33073,0,29233,28953:1017440	10	0	2	4
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|3:700,0,0,93:793:99:0|1:1017440_C_T:1733,3840,33073,3840,33073,33073,0,29233,29233,28953:1017440	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|2:700,0,93:793:99:0|1:1017440_C_T:1733,3840,33073,0,29233,28953:1017440	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|2:700,0,93:793:99:0|1:1017440_C_T:1733,3840,33073,0,29233,28953:1017440	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|2:700,0,93:793:99:0|1:1017440_C_T:1733,3840,33073,0,29233,28953:1017440	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|2:700,0,93:793:99:0|1:1017440_C_T:1733,3840,33073,0,29233,28953:1017440	1	0	13	2
chr11	1017475	1017475	T	0	exonic	MUC6	.	.	.	.	.	339	985	31	0	167	198	0.0154923	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1562	436.22	548	chr11	1017475	.	T	*,G	436.22	.	AC=4,1;AF=0.125,0.031;AN=32;BaseQRankSum=3.07;DP=13290;ExcessHet=1.1607;FS=1.912;InbreedingCoeff=-0.2174;MLEAC=5,1;MLEAF=0.156,0.031;MQ=56.45;MQRankSum=-6.635e+00;QD=0.12;ReadPosRankSum=6.01;SOR=1.037	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:700,93,0:793:99:0|1:1017440_C_T:1733,0,28953,3840,29233,33073:1017440	11	0	4	5
chr11	1017475	1017475	T	G	exonic	MUC6	.	nonsynonymous SNV	MUC6:NM_005961:exon31:c.A5326C:p.T1776P,	.	.	339	985	31	0	167	198	0.0154923	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.24	T	0.967	D	0.915	D	.	.	1.000	N	1.65	L	1.92	T	-1.035	T	0.084	T	0.142	1.872	12.22	-1.4	-0.326	0.060	2.878	0.035	.	.	.	0.0131	0.0110	0.0073	0.0102	0.0092	0.0120	0.0094	0.0280	.	.	.	rs767120670	0	0.0007	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.0052	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.023	0.48186	D	0.022	0.57587	D	0.967	0.56408	D	0.915	0.65091	D	.	.	.	.	1	0.08975	N	1.965	0.53209	M	1.92	0.23082	T	-0.7	0.19933	N	0.032	0.00825	-1.0346	0.18983	T	0.084	0.32729	T	9	0.0030392706	0.00050	T	.	.	.	0.035	0.08770	.	.	.	.	0.12709291837497497	0.12635	0.286751042776	0.31065	0.161724865437	0.00012	T	0.014035	0.12025	T	-0.171226	0.25050	T	-0.483731	0.24051	T	0.165187418460846	0.18247	T	.	.	.	0.07586503	0.17121	0.10278301	0.24644	0.07586503	0.17121	0.10278301	0.24643	-7.784	0.59588	D	.	.	0.075	0.05317	B	.	.	1.345915	0.17528	13.22	0.86401350992746828	0.16511	0.09225	0.15024	N	AEFDGBHCI	0.087222	0.17685	N	-0.554133786201835	0.20354	1.072371	-0.848067051572066	0.13334	0.6911499	0.999988853852363	0.51787	0.004792	0.00041	3	0.008208	0.00037	3	0.634913	0.45138	1	0.387032	0.06801	2	.	.	2.33	-1.4	0.08499	-0.249000	0.08861	-3.059000	0.03098	-1.265000	0.01286	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1901:0.2576:0.0:0.5523	2.878	0.05292	825	0.40060	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.1562	436.22	548	chr11	1017475	.	T	*,G	436.22	.	AC=4,1;AF=0.125,0.031;AN=32;BaseQRankSum=3.07;DP=13290;ExcessHet=1.1607;FS=1.912;InbreedingCoeff=-0.2174;MLEAC=5,1;MLEAF=0.156,0.031;MQ=56.45;MQRankSum=-6.635e+00;QD=0.12;ReadPosRankSum=6.01;SOR=1.037	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:700,93,0:793:99:0|1:1017440_C_T:1733,0,28953,3840,29233,33073:1017440	11	0	4	5
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|2:700,0,93:793:99:0|1:1017440_C_T:1733,3840,33073,0,29233,28953:1017440	0	0	15	1
chr11	1017485	1017485	G	0	exonic	MUC6	.	.	.	.	.	345	838	28	1	310	340	0.017585	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4	8917.62	568	chr11	1017485	.	G	A,*	8917.62	.	AC=9,3;AF=0.300,0.100;AN=30;BaseQRankSum=3.65;DP=13357;ExcessHet=9.6308;FS=1.662;InbreedingCoeff=-0.5548;MLEAC=11,4;MLEAF=0.367,0.133;MQ=55.50;MQRankSum=-1.127e+01;QD=1.11;ReadPosRankSum=8.04;SOR=0.966	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:700,0,93:793:99:0|1:1017440_C_T:1733,3840,33073,0,29233,28953:1017440	3	0	9	6
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|2:700,0,93:793:99:0|1:1017440_C_T:1733,3840,33073,0,29233,28953:1017440	3	0	12	1
chr11	1017495	1017498	ATGC	0	exonic	MUC6	.	.	.	.	.	368	763	224	1	166	392	0.128995	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4062	22503.92	584	chr11	1017495	.	ATGC	A,*	22503.92	.	AC=10,3;AF=0.313,0.094;AN=32;BaseQRankSum=3.43;DP=13485;ExcessHet=11.8493;FS=2.630;InbreedingCoeff=-0.5849;MLEAC=12,4;MLEAF=0.375,0.125;MQ=55.70;MQRankSum=-1.139e+01;QD=2.46;ReadPosRankSum=8.78;SOR=1.037	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:700,0,93:793:99:0|1:1017440_C_T:1733,3840,33073,0,29233,28953:1017440	3	0	10	5
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|3:700,0,0,93:793:99:0|1:1017440_C_T:1733,3840,33073,3840,33073,33073,0,29233,29233,28953:1017440	0	0	7	3
chr11	1017504	1017504	G	0	exonic	MUC6	.	.	.	.	.	339	904	113	0	166	279	0.0588235	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2941	2301.88	593	chr11	1017504	.	G	A,*	2301.88	.	AC=6,4;AF=0.176,0.118;AN=34;BaseQRankSum=3.07;DP=13147;ExcessHet=6.1002;FS=0.000;InbreedingCoeff=-0.3958;MLEAC=7,5;MLEAF=0.206,0.147;MQ=56.93;MQRankSum=-1.066e+01;QD=0.38;ReadPosRankSum=-8.910e-01;SOR=0.584	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:700,0,93:793:99:0|1:1017440_C_T:1733,3840,33073,0,29233,28953:1017440	7	0	6	4
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|2:700,0,93:793:99:0|1:1017440_C_T:1733,3840,33073,0,29233,28953:1017440	0	0	15	2
chr11	1017522	1017522	T	0	exonic	MUC6	.	.	.	.	.	346	931	79	2	164	247	0.0426735	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	4405.44	578	chr11	1017522	.	T	G,*	4405.44	.	AC=3,3;AF=0.100,0.100;AN=30;BaseQRankSum=1.48;DP=13418;ExcessHet=1.7912;FS=0.769;InbreedingCoeff=-0.2727;MLEAC=4,4;MLEAF=0.133,0.133;MQ=56.24;MQRankSum=-6.364e+00;QD=1.00;ReadPosRankSum=3.23;SOR=0.630	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:700,0,93:793:99:0|1:1017440_C_T:1733,3840,33073,0,29233,28953:1017440	9	0	3	6
chr11	1017528	1017528	T	0	exonic	MUC6	.	.	.	.	.	354	989	176	0	3	179	0.0817084	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1562	489.22	578	chr11	1017528	.	T	A,*	489.22	.	AC=1,4;AF=0.031,0.125;AN=32;BaseQRankSum=9.03;DP=14270;ExcessHet=1.1607;FS=1.683;InbreedingCoeff=-0.2174;MLEAC=1,5;MLEAF=0.031,0.156;MQ=56.06;MQRankSum=-7.771e+00;QD=0.11;ReadPosRankSum=0.365;SOR=0.961	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:700,0,93:793:99:0|1:1017440_C_T:1733,3840,33073,0,29233,28953:1017440	11	0	1	5
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|2:700,0,93:793:99:0|1:1017440_C_T:1733,3840,33073,0,29233,28953:1017440	5	0	7	5
chr11	1017545	1017545	G	0	exonic	MUC6	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1364	442.71	703	chr11	1017545	.	G	T,*	442.71	.	AC=1,2;AF=0.045,0.091;AN=22;BaseQRankSum=4.31;DP=13837;ExcessHet=0.3300;FS=1.683;InbreedingCoeff=-0.2353;MLEAC=2,3;MLEAF=0.091,0.136;MQ=56.32;MQRankSum=-7.749e+00;QD=0.16;ReadPosRankSum=-5.316e+00;SOR=0.971	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:700,0,93:793:99:0|1:1017440_C_T:1733,3840,33073,0,29233,28953:1017440	8	0	1	10
chr11	1017552	1017552	T	0	exonic	MUC6	.	.	.	.	.	0	77	100	0	49	149	0.393701	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2941	9377.78	461	chr11	1017552	.	T	C,*	9377.78	.	AC=8,2;AF=0.235,0.059;AN=34;BaseQRankSum=-1.657e+00;DP=12232;ExcessHet=6.1002;FS=0.621;InbreedingCoeff=-0.4000;MLEAC=9,2;MLEAF=0.265,0.059;MQ=58.98;MQRankSum=1.86;QD=1.78;ReadPosRankSum=0.813;SOR=0.779	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:318,74,89:481:99:.:.:2500,1405,11494,0,8639,14333	7	0	8	4
chr11	1017596	1017596	T	0	exonic	MUC6	.	.	.	.	.	389	572	462	1	98	562	0.288557	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3056	13853.16	475	chr11	1017596	.	T	G,*	13853.16	.	AC=9,2;AF=0.250,0.056;AN=36;BaseQRankSum=-3.120e-01;DP=12315;ExcessHet=7.7275;FS=0.000;InbreedingCoeff=-0.4237;MLEAC=10,2;MLEAF=0.278,0.056;MQ=59.48;MQRankSum=0.00;QD=2.25;ReadPosRankSum=0.130;SOR=0.665	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:339,73,87:499:99:.:.:2391,1241,12341,0,9510,14919	7	0	9	3
chr11	1017618	1017618	A	0	exonic	MUC6	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2083	1502.06	470	chr11	1017618	.	A	*,G	1502.06	.	AC=4,1;AF=0.167,0.042;AN=24;BaseQRankSum=-1.730e+00;DP=12933;ExcessHet=1.1607;FS=0.656;InbreedingCoeff=-0.2923;MLEAC=6,1;MLEAF=0.250,0.042;MQ=57.12;MQRankSum=-1.552e+01;QD=0.45;ReadPosRankSum=-2.164e+00;SOR=0.764	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:484,93,0:577:99:0|1:1017440_C_T:2313,0,19907,3769,20186,23955:1017440	7	0	4	9
chr11	1017618	1017618	A	G	exonic	MUC6	.	nonsynonymous SNV	MUC6:NM_005961:exon31:c.T5183C:p.V1728A,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.82	T	0.05	B	0.056	B	.	.	1.000	N	-0.895	N	2.26	T	-1.011	T	0.011	T	0.079	-3.136	0.001	-1.99	-5.487	-0.903	1.423	0.009	0.000784335526871	.	.	0.0002	0.0002	9.974e-05	0.0008	0.0002	0.0002	0	0.0001	0.0001423	22	154602	rs771325542	1.709e-06	4.822e-05	3.385e-06	0	0.0001	0	0	.	.	0	0.0001	0	0	0	0	0	0	0	0	0.0062	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	1.0	0.00964	T	0.606	0.07791	T	0.05	0.22331	B	0.056	0.26147	B	.	.	.	.	1	0.08975	N	-0.805	0.01590	N	2.26	0.17596	T	0.09	0.05917	N	0.027	0.00571	-1.0109	0.26635	T	0.011	0.04134	T	9	0.010313988	0.00230	T	7.84E-4	0.00588	T	0.009	0.00846	.	.	0.0920862733494	0.08535	0.15508797170922747	0.15429	0.107656789803	0.12148	0.185074135661	0.00150	T	0.010255	0.09278	T	-0.295601	0.09080	T	-0.662387	0.08105	T	0.100785257858674	0.12443	T	.	.	.	0.017920928	0.00315	0.04538112	0.06095	0.017920928	0.00315	0.04538112	0.06094	-3.12	0.11527	T	.	.	0.072	0.04396	B	.	.	-1.046194	0.00708	0.021	0.27223928687474153	0.01341	0.00232	0.01297	N	AEFDGBCI	0.016358	0.00363	N	-2.72768374869058	0.00004	0.0002017786	-2.7868546645432	0.00005	0.0002182202	0.999999999999978	0.74766	0.042966	0.00246	3	0.003223	0.00025	3	0.0	0.00061	3	0.683672	0.66515	0	.	.	0.996	-1.99	0.07047	-6.899000	0.00063	-6.778000	0.01309	-2.766000	0.00193	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2741:0.39:0.1507:0.1853	1.423	0.02177	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	0.2083	1502.06	470	chr11	1017618	.	A	*,G	1502.06	.	AC=4,1;AF=0.167,0.042;AN=24;BaseQRankSum=-1.730e+00;DP=12933;ExcessHet=1.1607;FS=0.656;InbreedingCoeff=-0.2923;MLEAC=6,1;MLEAF=0.250,0.042;MQ=57.12;MQRankSum=-1.552e+01;QD=0.45;ReadPosRankSum=-2.164e+00;SOR=0.764	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:484,93,0:577:99:0|1:1017440_C_T:2313,0,19907,3769,20186,23955:1017440	7	0	4	9
chr11	1017619	1017619	C	0	exonic	MUC6	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.125	1961.18	470	chr11	1017619	.	C	*,G	1961.18	.	AC=4,1;AF=0.100,0.025;AN=40;BaseQRankSum=-7.970e-01;DP=12986;ExcessHet=1.1607;FS=0.656;InbreedingCoeff=-0.1507;MLEAC=4,1;MLEAF=0.100,0.025;MQ=57.12;MQRankSum=-1.551e+01;QD=0.59;ReadPosRankSum=-2.378e+00;SOR=0.770	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:484,93,0:577:99:0|1:1017440_C_T:2313,0,19907,3769,20186,23955:1017440	15	0	4	1
chr11	1017619	1017619	C	G	exonic	MUC6	.	nonsynonymous SNV	MUC6:NM_005961:exon31:c.G5182C:p.V1728L,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.47	T	0.136	B	0.085	B	.	.	1.000	N	0	N	2.25	T	-0.970	T	0.017	T	0.071	-1.798	0.009	-1.99	-1.752	-5.547	3.869	0.004	0.000880914591661	.	.	0.0002	0.0002	8.892e-05	0.0007	0.0002	0.0002	0	0.0002	0.0001488	23	154602	rs776923183	1.601e-06	2.244e-05	3.143e-06	0	3.571e-05	2.7e-07	1e-07	.	.	3.571e-05	0	0	0	0	0	0	0	1.57e-05	0	0.0001	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.106	0.29688	T	0.691	0.05901	T	0.136	0.27347	B	0.085	0.29395	B	.	.	.	.	1	0.08975	N	0.345	0.11182	N	2.25	0.17761	T	-0.41	0.14000	N	0.072	0.04547	-0.9699	0.37220	T	0.017	0.07140	T	9	0.021094084	0.00498	T	8.81E-4	0.00800	T	0.004	0.00165	0.228	0.15406	0.110078149338	0.10416	0.16479799696447842	0.16399	0.087332336583	0.09842	0.185904532671	0.00161	T	0.025306	0.18949	T	-0.284345	0.10212	T	-0.646218	0.09221	T	0.115778049627493	0.14013	T	.	.	.	0.0501816	0.09025	0.06939536	0.14615	0.0501816	0.09025	0.06939536	0.14614	-0.985	0.00983	T	.	.	0.113	0.22208	B	.	.	-0.830553	0.01048	0.045	0.33187604895552741	0.01963	0.01051	0.03915	N	AEFDGBCI	0.030689	0.03138	N	-1.66755186315791	0.00963	0.04174298	-1.77929018143564	0.00828	0.03696766	0.99999848616586	0.74766	0.042966	0.00246	3	0.003223	0.00025	3	0.0	0.00061	3	0.683672	0.66515	0	.	.	0.996	-1.99	0.07047	-3.035000	0.00699	-2.364000	0.03847	-1.720000	0.00730	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.1769:0.4115:0.4116	3.869	0.08535	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	0.125	1961.18	470	chr11	1017619	.	C	*,G	1961.18	.	AC=4,1;AF=0.100,0.025;AN=40;BaseQRankSum=-7.970e-01;DP=12986;ExcessHet=1.1607;FS=0.656;InbreedingCoeff=-0.1507;MLEAC=4,1;MLEAF=0.100,0.025;MQ=57.12;MQRankSum=-1.551e+01;QD=0.59;ReadPosRankSum=-2.378e+00;SOR=0.770	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:484,93,0:577:99:0|1:1017440_C_T:2313,0,19907,3769,20186,23955:1017440	15	0	4	1
chr11	1017620	1017620	T	0	exonic	MUC6	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2083	1963.06	470	chr11	1017620	.	T	*,C	1963.06	.	AC=4,1;AF=0.167,0.042;AN=24;BaseQRankSum=-3.394e+00;DP=13014;ExcessHet=1.1607;FS=0.656;InbreedingCoeff=-0.2923;MLEAC=6,1;MLEAF=0.250,0.042;MQ=57.12;MQRankSum=-1.551e+01;QD=0.59;ReadPosRankSum=-2.571e+00;SOR=0.770	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:484,93,0:577:99:0|1:1017440_C_T:2313,0,19907,3769,20186,23955:1017440	7	0	4	9
chr11	1017655	1017655	G	0	exonic	MUC6	.	.	.	.	.	390	675	445	0	12	457	0.247911	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2857	15394.48	526	chr11	1017655	.	G	A,*	15394.48	.	AC=11,1;AF=0.262,0.024;AN=42;BaseQRankSum=0.846;DP=13673;ExcessHet=9.6308;FS=0.000;InbreedingCoeff=-0.4000;MLEAC=11,1;MLEAF=0.262,0.024;MQ=59.47;MQRankSum=0.935;QD=2.07;ReadPosRankSum=0.561;SOR=0.723	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:448,79,0:527:99:.:.:949,0,14381,2294,14617,16910	9	0	11	0
chr11	1017692	1017738	ATGGTGTGTGGAGGAAGTGTGTGAATGTAGGGATGTAGAGGTTTTGG	-	exonic	MUC6	.	frameshift deletion	MUC6:NM_005961:exon31:c.5063_5109del:p.A1688Gfs*2,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3571	16762.0	917	chr11	1017691	.	CATGGTGTGTGGAGGAAGTGTGTGAATGTAGGGATGTAGAGGTTTTGG	GATGGTGTGTGGAGGAAGTGTGTGAATGTAGGGATGTAGAGGTTTTGG,C	16762.0	.	AC=4,1;AF=0.286,0.071;AN=14;BaseQRankSum=-6.300e-02;DP=18038;ExcessHet=1.3000;FS=0.588;InbreedingCoeff=-0.3004;MLEAC=8,2;MLEAF=0.571,0.143;MQ=58.84;MQRankSum=-1.154e+01;QD=5.26;ReadPosRankSum=-2.329e+00;SOR=0.758	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:422,125,0:547:99:0|1:1017440_C_T:2563,0,15017,3827,15352,19179:1017440	2	0	4	14
chr11	1017891	1017891	G	T	exonic	MUC6	.	nonsynonymous SNV	MUC6:NM_005961:exon31:c.C4910A:p.A1637E,	.	.	342	893	161	0	126	287	0.0826913	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.985	D	0.885	P	.	.	1.000	N	0.345	N	2.22	T	-1.093	T	0.035	T	0.087	0.677	7.621	-1.75	-0.596	-1.666	9.313	0.060	0.00160847877757	.	.	3.335e-05	0	0	0	0.0002	4.536e-05	0	0	.	.	.	.	0	0.0003	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.0007	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.014	0.53172	D	0.113	0.36901	T	0.985	0.61118	D	0.885	0.62825	P	.	.	.	.	1	0.08975	N	1.3	0.32576	L	2.22	0.18248	T	-0.18	0.09796	N	0.053	0.02462	-1.0932	0.05020	T	0.035	0.15074	T	9	0.102692544	0.18837	T	0.001608	0.02600	T	0.060	0.17295	.	.	0.281780670237	0.27795	0.09278683405377418	0.09210	0.103695909574	0.11733	0.165941432118	0.00020	T	0.020064	0.15863	T	-0.330459	0.06077	T	-0.712458	0.05169	T	0.0870277977061818	0.10862	T	.	.	.	0.080301575	0.18392	0.11164214	0.26933	0.080301575	0.18391	0.11164214	0.26932	-9.307	0.69651	D	.	.	0.118	0.23986	B	.	.	1.309505	0.17126	12.97	0.3105354391461434	0.01730	0.01241	0.04378	N	AEFDGBCI	0.027707	0.02312	N	-0.93578728676145	0.10013	0.4765682	-1.16165150961472	0.06561	0.3162101	0.999990071190048	0.74766	0.675202	0.55065	0	0.606735	0.50208	0	0.67197	0.60751	0	0.264475	0.05362	3	.	.	2.39	-1.75	0.07598	-0.994000	0.03827	-3.104000	0.03058	0.514000	0.23422	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.0:0.4593:0.5407	9.313	0.37079	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	0.09524	7053.15	335	chr11	1017891	.	GCA	G,TCA	7053.15	.	AC=3,1;AF=0.071,0.024;AN=42;BaseQRankSum=-2.652e+00;DP=9393;ExcessHet=0.6776;FS=3.414;InbreedingCoeff=-0.1053;MLEAC=3,1;MLEAF=0.071,0.024;MQ=56.21;MQRankSum=-1.089e+01;QD=3.00;ReadPosRankSum=-1.562e+00;SOR=1.070	GT:AD:DP:GQ:PL	0/1:322,36,6:364:99:411,0,13256,1203,13186,15493	17	0	3	0
chr11	1017892	1017892	C	0	exonic	MUC6	.	.	.	.	.	354	873	156	4	135	299	0.0858639	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1053	3030.61	335	chr11	1017892	.	C	*,G	3030.61	.	AC=3,1;AF=0.079,0.026;AN=38;BaseQRankSum=-1.327e+00;DP=9322;ExcessHet=0.6776;FS=4.471;InbreedingCoeff=-0.1351;MLEAC=3,1;MLEAF=0.079,0.026;MQ=56.21;MQRankSum=-1.086e+01;QD=1.30;ReadPosRankSum=-1.667e+00;SOR=1.123	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:320,36,6:363:99:.:.:433,0,13225,1213,13143,15307	15	0	3	2
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	0/2:103,0,10:113:99:.:.:106,416,4741,0,4325,4295	5	0	5	0
chr11	1075685	1075685	C	T	exonic	MUC2	.	unknown	UNKNOWN,	.	.	416	1052	54	0	0	54	0.0250232	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0024	0.00798722	0.0064	0	0.0014	0.0002	0.0008	0.0039	0.0081	0.0364	0.005692	880	154602	rs72652890	0.0054	0.0055	0.0047	0.0062	0.0292	0.0053	0.0053	0.0283	0.0279	0.0005	0.0016	0.0042	0.0009	0.0006	0.0141	0.0043	0.0055	0.0292	0.0032	0.0032	0.0030	0.0033	0.0257	0.0029	0.0029	0.0220	0.0206	0.0006	0.0154	0.0020	0.0060	0.0008	0.0002	0.0102	0.0038	0.0019	0.0257	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	3631.68	115	chr11	1075685	.	C	T	3631.68	.	AC=3;AF=0.071;AN=42;BaseQRankSum=-7.770e-01;DP=922;ExcessHet=0.3300;FS=1.394;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=11.60;ReadPosRankSum=-1.010e-01;SOR=0.791	GT:AD:DP:GQ:PL	0/1:58,59:117:99:1615,0,1532	18	0	3	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|1:3,154,0:157:99:1|1:1095948_C_G:6188,377,0,6197,461,6280:1095948	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	1/1:0,173,3,0:176:99:.:.:7013,538,0,6091,479,5941,6637,536,6072,6510	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	0|1:199,82,0:281:99:0|1:1096086_G_C:2496,0,7577,3095,7823,10918:1096086	13	0	4	0
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	0|2:226,0,87:313:99:0|1:1096086_G_C:2554,3233,11763,0,8530,8270:1096086	14	0	0	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	0/1:210,73,0:283:99:2310,0,8162,2941,8489,11430	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	0/1:210,73,0:283:99:.:.:2310,0,8162,2941,8489,11430	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	0/1:210,73,0:283:99:.:.:2310,0,8162,2941,8489,11430	1	0	17	1
chr11	1096170	1096212	TGACCCCAACCCCAACACCCACCGGCACACAGACCCCAACCAC	0	exonic	MUC2	.	.	.	.	.	1	116	21	0	88	109	0.083004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4375	5334.59	473	chr11	1096170	.	TGACCCCAACCCCAACACCCACCGGCACACAGACCCCAACCAC	*,T	5334.59	.	AC=10,4;AF=0.313,0.125;AN=32;BaseQRankSum=2.94;DP=10251;ExcessHet=15.6281;FS=0.000;InbreedingCoeff=-0.6141;MLEAC=12,5;MLEAF=0.375,0.156;MQ=57.71;MQRankSum=-5.342e+00;QD=1.04;ReadPosRankSum=-1.810e+00;SOR=0.662	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:210,73,0:283:99:.:.:2310,0,8162,2941,8489,11430	2	0	10	5
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	0/2:210,0,73:283:99:.:.:2310,2941,11430,0,8489,8162	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	0/1:210,73,0:283:99:.:.:2310,0,8162,2941,8489,11430	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	0/1:210,73,0:283:99:.:.:2310,0,8162,2941,8489,11430	1	0	11	7
chr11	1096606	1096606	C	T	exonic	MUC2	.	unknown	UNKNOWN,	.	.	563	945	12	0	2	14	0.00630915	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1222095683	0.0067	0.0063	0.0067	0.0066	0.0077	0.0066	0.0065	0.0076	0.0075	0.0010	0.0023	0.0046	0.0003	0.0011	0.0074	0.0077	0.0049	0.0040	0.0041	0.0052	0.0042	0.0040	0.0066	0.0037	0.0036	0.0060	0.0057	0.0011	0.0017	0.0032	0.0044	0.0015	0.0009	0.0072	0.0066	0.0015	0.0030	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	2933.98	106	chr11	1096606	.	C	T	2933.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.607;DP=2479;ExcessHet=0.0000;FS=1.134;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=55.16;MQRankSum=1.67;QD=14.97;ReadPosRankSum=-7.240e-01;SOR=0.801	GT:AD:DP:GQ:PL	0/1:100,96:196:99:2948,0,3532	20	0	1	0
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	0|1:63,52,0:115:99:0|1:1096650_C_T:1950,0,2387,2139,2543,4683:1096650	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	1/1:0,97,0:97:99:.:.:4255,292,0,4255,292,4255	0	19	0	0
chr11	1097563	1097563	G	A	exonic	MUC2	.	unknown	UNKNOWN,	.	.	650	853	10	3	6	22	0.00929152	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1283237635	0.0067	0.0062	0.0063	0.0072	0.0186	0.0066	0.0065	0.0153	0.0140	0.0012	0.0033	0.0108	0.0003	0.0068	0.0186	0.0074	0.0061	0.0043	0.0032	0.0046	0.0031	0.0033	0.0055	0.0028	0.0026	0.0047	0.0044	0.0008	0.0049	0.0023	0.0065	0.0004	0.0014	0	0.0055	0.0082	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	0.1053	1930.44	172	chr11	1097563	.	G	A,*	1930.44	.	AC=2,2;AF=0.053,0.053;AN=38;BaseQRankSum=1.72;DP=3756;ExcessHet=0.0082;FS=1.823;InbreedingCoeff=0.2675;MLEAC=2,2;MLEAF=0.053,0.053;MQ=54.30;MQRankSum=-1.506e+00;QD=5.01;ReadPosRankSum=0.719;SOR=0.820	GT:AD:DP:GQ:PL	1/1:3,69,0:72:99:1956,160,0,1964,205,2009	16	1	0	2
chr11	1097563	1097563	G	0	exonic	MUC2	.	.	.	.	.	650	853	10	3	6	22	0.00929152	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1053	1930.44	172	chr11	1097563	.	G	A,*	1930.44	.	AC=2,2;AF=0.053,0.053;AN=38;BaseQRankSum=1.72;DP=3756;ExcessHet=0.0082;FS=1.823;InbreedingCoeff=0.2675;MLEAC=2,2;MLEAF=0.053,0.053;MQ=54.30;MQRankSum=-1.506e+00;QD=5.01;ReadPosRankSum=0.719;SOR=0.820	GT:AD:DP:GQ:PL	1/1:3,69,0:72:99:1956,160,0,1964,205,2009	16	1	0	2
chr11	1097836	1097836	A	C	exonic	MUC2	.	unknown	UNKNOWN,	.	.	689	813	20	0	0	20	0.0121507	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1381655864	0.0037	0.0059	0.0036	0.0039	0.0058	0.0036	0.0036	0.0037	0.0036	0.0011	0.0028	0.0031	0.0002	0.0123	0.0058	0.0038	0.0035	0.0039	0.0072	0.0056	0.0067	0.0078	0.0117	0.0064	0.0061	0.0102	0.0096	0.0017	0	0.0056	0	0.0010	0.0117	0	0.0117	0.0082	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	0.03333	151.45	98	chr11	1097836	.	A	C	151.45	.	AC=1;AF=0.033;AN=30;BaseQRankSum=-1.482e+00;DP=2264;ExcessHet=0.0000;FS=32.122;InbreedingCoeff=-0.1053;MLEAC=1;MLEAF=0.033;MQ=34.13;MQRankSum=-3.198e+00;QD=2.37;ReadPosRankSum=-1.252e+00;SOR=2.037	GT:AD:DP:GQ:PL	0/1:51,13:64:99:163,0,1581	14	0	1	6
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	0/1:112,35,0:147:99:.:.:648,0,3281,1066,3557,5379	10	0	7	3
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	1/1:0,126,0:126:99:.:.:4548,383,0,3919,392,4132	0	15	0	0
chr11	1174572	1174572	C	G	exonic	MUC5AC	.	nonsynonymous SNV	MUC5AC:NM_001304359:exon17:c.C2042G:p.A681G,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.222	0.24883	.	.	.	.	.	.	.	0.3465731	0.51609	T	.	.	.	.	.	.	.	.	.	0.22113586356628534	0.22028	.	.	.	.	.	0.432112	0.78000	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-10.864	0.78906	D	.	.	0.198	0.42067	B	.	.	1.996753	0.25370	16.74	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.637000	0.46219	2.646000	0.33784	-0.180000	0.10397	0.982000	0.35529	1.000000	0.68203	0.006000	0.07323	.	.	.	.	.	Uncharacterised domain, cysteine-rich|Uncharacterised domain, cysteine-rich	.	.	.	.	.	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	2173.98	33	chr11	1174572	.	C	G	2173.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.280e-01;DP=863;ExcessHet=0.0000;FS=0.616;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.89;ReadPosRankSum=-9.570e-01;SOR=0.637	GT:AD:DP:GQ:PL	0/1:60,86:146:99:2188,0,1484	20	0	1	0
chr11	1186263	1186263	-	AGCACAACCTCTGCTCCCACAACA	exonic	MUC5AC	.	nonframeshift insertion	MUC5AC:NM_001304359:exon31:c.8118_8119insAGCACAACCTCTGCTCCCACAACA:p.T2724_I2725insTSAPTTST,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.013e-05	1.113e-05	1.854e-05	3.098e-06	0.0002	3.64e-06	2.39e-06	3.75e-06	1.86e-06	0	0	0	0	0	0.0002	1.178e-05	3.093e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	11744.94	787	chr11	1186263	.	C	CAGCACAACCTCTGCTCCCACAACA	11744.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.31;DP=15664;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=57.50;MQRankSum=-9.387e+00;QD=18.24;ReadPosRankSum=0.256;SOR=0.708	GT:AD:DP:GQ:PL	0/1:334,310:644:99:11759,0,12998	20	0	1	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	0/1:92,66,0:158:99:.:.:2254,0,3459,2531,3665,6196	3	3	5	0
chr11	3218075	3218075	G	A	exonic	MRGPRG	.	nonsynonymous SNV	MRGPRG:NM_001164377:exon1:c.C739T:p.P247S,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	.	.	.	.	.	.	0.999	N	2.985	M	-5.15	D	0.381	D	0.857	D	0.74	3.271	16.98	3.54	1.951	5.334	10.784	0.612	.	.	0.00678914	0.0038	0.0375	0.0065	0	0	0.0005	0	0	0.0007244	112	154602	rs140657678	0.0008	0.0008	0.0009	0.0007	0.0248	0.0008	0.0008	0.0234	0.0228	0.0248	0.0017	0	0	0	0.0015	0.0001	0.0020	0.0001	0.0072	0.0072	0.0073	0.0070	0.0243	0.0068	0.0067	0.0231	0.0226	0.0243	0	0.0035	0	0	0	0.0139	0.0001	0.0053	0	0.0	0.91255	D	0.008	0.67890	D	.	.	.	.	.	.	.	.	.	.	0.999137	0.21587	N	3.62	0.93917	H	-5.15	0.98780	D	-7.28	0.94430	D	0.591	0.61087	0.381	0.88808	D	0.857	0.95227	D	7	0.014520794	0.00305	T	.	.	.	0.612	0.84826	.	.	0.999333392624	0.99932	0.6905554775349948	0.68995	.	.	0.375596404076	0.21632	T	0.333887	0.70369	T	0.0155315	0.53776	T	0.267119	0.86430	D	0.113944751782324	0.13827	T	0.476552	0.14308	T	0.38863596	0.59934	0.42499313	0.66322	0.38863596	0.59935	0.42499313	0.66322	-7.371	0.56700	T	.	.	0.319	0.54412	B	.	.	3.261197	0.44598	22.0	0.99792133391184334	0.87750	0.93990	0.59782	D	AEFDBI	0.370584	0.45690	N	0.146688343404127	0.48655	3.075159	0.00691190641923753	0.40035	2.382953	0.999937107994667	0.46732	0.487112	0.14033	0	0.573888	0.26702	0	0.578056	0.29568	0	0.562822	0.20929	0	.	.	3.54	3.54	0.39650	4.135000	0.57758	5.907000	0.50968	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.006000	0.07323	0.0:0.0:1.0:0.0	10.784	0.45593	976	0.04745	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	562.98	35	chr11	3218075	.	G	A	562.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.671;DP=759;ExcessHet=0.0000;FS=2.263;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.71;ReadPosRankSum=0.680;SOR=1.022	GT:AD:DP:GQ:PL	0/1:37,21:58:99:577,0,1031	20	0	1	0
chr11	3218489	3218489	A	G	exonic	MRGPRG	.	nonsynonymous SNV	MRGPRG:NM_001164377:exon1:c.T325C:p.F109L,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	T	.	.	.	.	.	.	1.000	N	1.945	M	1.16	T	-1.022	T	0.033	T	0.146	1.779	11.91	-0.137	-0.237	0.067	1.721	0.039	0.00182177967718	.	0.00259585	0.0009	0.0087	0.0041	0	0	0.0004	0	0	0.0002329	36	154602	rs182921716	0.0003	0.0003	0.0003	0.0003	0.0086	0.0002	0.0002	0.0077	0.0074	0.0086	0.0007	0	0	0	0.0006	1.115e-05	0.0009	3.809e-05	0.0021	0.0021	0.0021	0.0021	0.0071	0.0019	0.0019	0.0064	0.0062	0.0071	0	0.0015	0	0	0	0	2.959e-05	0.0024	0	0.199	0.20456	T	0.088	0.40586	T	.	.	.	.	.	.	.	.	.	.	0.999999	0.08975	N	2	0.54354	M	1.16	0.38073	T	-3.72	0.70793	D	0.104	0.08786	-1.0217	0.23162	T	0.033	0.14117	T	7	0.011539996	0.00252	T	0.001822	0.03141	T	0.039	0.10176	0.654	0.79172	0.408172294925	0.40431	0.16592084580151317	0.16512	.	.	0.413725733757	0.26972	T	0.065132	0.32612	T	-0.55698	0.00265	T	-0.568274	0.15609	T	0.0245646204563069	0.01216	T	0.364964	0.08484	T	0.09832281	0.23190	0.08821727	0.20557	0.09832281	0.23189	0.08821727	0.20556	-5.526	0.42110	T	.	.	0.517	0.65341	A	.	.	0.696183	0.10651	7.348	0.81504323345198781	0.13718	0.07016	0.13042	N	AEFDBI	0.081449	0.16482	N	-0.609316755555232	0.18663	0.9707712	-0.804225844550994	0.14393	0.7518251	0.98686740588803	0.31140	0.517182	0.21443	0	0.573888	0.26702	0	0.478664	0.07449	1	0.562822	0.20929	0	.	.	3.73	-0.137	0.12811	0.606000	0.23891	-0.544000	0.08566	0.756000	0.94297	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.5625:0.1719:0.0997:0.1659	1.721	0.02735	976	0.04745	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1184.98	35	chr11	3218489	.	A	G	1184.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.072e+00;DP=785;ExcessHet=0.0000;FS=6.668;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.80;ReadPosRankSum=0.021;SOR=0.254	GT:AD:DP:GQ:PL	0/1:36,39:75:99:1199,0,1105	20	0	1	0
chr11	3666219	3666219	C	T	exonic	CHRNA10	.	nonsynonymous SNV	CHRNA10:NM_001303034:exon5:c.G623A:p.R208H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.007	B	0.003	B	0.001	N	1.000	D	1.735	L	-0.52	T	-0.811	T	0.143	T	0.202	2.314	13.69	3.76	0.735	-0.251	8.630	0.104	.	0.0015	0.00279553	0.0005	0.0048	0.0002	0	0	7.584e-05	0	0.0001	0.0005369	83	154602	rs116632003	0.0002	0.0002	0.0002	0.0001	0.0048	0.0001	0.0001	0.0042	0.0040	0.0048	0.0003	0	0	7.507e-05	0.0002	3.058e-05	0.0003	5.797e-05	0.0013	0.0013	0.0012	0.0013	0.0043	0.0011	0.0011	0.0038	0.0036	0.0043	0	0.0005	0	0	0	0	7.351e-05	0.0009	0	0.091	0.31834	T	0.116	0.36497	T	0.007	0.14184	B	0.003	0.08700	B	0.001294	0.39521	N	0.107152	1	0.81001	D	1.935	0.51832	L	-0.52	0.70717	T	-1.13	0.29114	N	0.087	0.06454	-0.8106	0.54514	T	0.143	0.46514	T	10	0.0041692555	0.00082	T	.	.	.	0.104	0.29647	.	.	0.582105859106	0.57882	0.3655076293872003	0.36464	0.161394448648	0.18220	0.273662447929	0.06624	T	0.191572	0.54646	T	-0.393121	0.02568	T	-0.337201	0.40661	T	0.0500503027747435	0.05509	T	0.638636	0.25202	T	0.06690656	0.14441	0.077186316	0.17170	0.06690656	0.14441	0.077186316	0.17170	-7.54	0.57891	D	.	.	0.075	0.05535	B	.	.	2.204361	0.28116	17.69	0.99574272713243506	0.72621	0.28080	0.23455	N	AEFDGBI	0.156126	0.28143	N	-0.393457460445773	0.25701	1.397146	-0.309252718473825	0.27798	1.545128	0.996256383592238	0.34624	0.372202	0.05800	0	0.546412	0.12157	0	0.578056	0.29568	0	0.491896	0.07777	0	.	.	5.61	3.76	0.42368	-0.244000	0.08921	-0.017000	0.12978	-0.173000	0.11020	0.001000	0.13787	0.730000	0.26410	0.976000	0.56436	0.0:0.765:0.0:0.235	8.630	0.33076	845	0.36510	Neurotransmitter-gated ion-channel transmembrane 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	862.98	36	chr11	3666219	.	C	T	862.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.770;DP=845;ExcessHet=0.0000;FS=1.935;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.79;ReadPosRankSum=0.580;SOR=1.016	GT:AD:DP:GQ:PL	0/1:48,32:80:99:877,0,1272	20	0	1	0
chr11	4488904	4488904	C	T	exonic	OR52K1	.	nonsynonymous SNV	OR52K1:NM_001005171:exon2:c.C4T:p.L2F,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.71	T	0.052	B	0.033	B	0.833	N	1.000	N	0.915	L	1.16	T	-0.999	T	0.037	T	0.164	-0.591	1.351	-8.76	-1.815	-4.083	0.705	0.045	0.0148460034166	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.266e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.773	0.03354	T	0.779	0.04344	T	0.052	0.22494	B	0.033	0.22329	B	0.833192	0.06954	N	1.116690	0.999999	0.08975	N	0.635	0.15989	N	1.16	0.38073	T	-0.76	0.21215	N	0.071	0.04426	-0.9991	0.30171	T	0.037	0.15899	T	10	0.047613025	0.04102	T	0.014846	0.35231	T	0.045	0.12272	0.215	0.13498	0.0611884634855	0.05136	0.14371815121218293	0.14294	.	.	0.283620834351	0.08002	T	0.001751	0.01176	T	-0.288412	0.09796	T	-0.652061	0.08811	T	0.0666449882505786	0.08172	T	0.332567	0.07018	T	0.040492512	0.05791	0.03574162	0.02884	0.040492512	0.05790	0.03574162	0.02883	-4.337	0.28692	T	.	.	0.059	0.01059	B	.;.	.;.	-1.592832	0.00244	0.004	0.20019671462553745	0.00702	0.00621	0.02743	N	AEFBI	0.023867	0.01392	N	-1.71552709541866	0.00788	0.03404736	-1.84543066948755	0.00624	0.02775362	0.999441884986545	0.39736	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	4.38	-8.76	0.00718	-4.492000	0.00259	.	.	-0.811000	0.03066	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.4067:0.2121:0.1944:0.1868	0.705	0.00856	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	1	0	0	0	0.2	605.95	69	chr11	4488904	.	C	G,T	605.95	.	AC=5,3;AF=0.125,0.075;AN=40;BaseQRankSum=-2.135e+00;DP=2224;ExcessHet=3.5521;FS=176.401;InbreedingCoeff=-0.2568;MLEAC=5,3;MLEAF=0.125,0.075;MQ=60.00;MQRankSum=0.00;QD=0.71;ReadPosRankSum=0.714;SOR=12.957	GT:AD:DP:GQ:PL	0/2:66,17,23:106:17:17,45,1195,0,1038,1135	12	0	5	1
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	0/1:129,30:159:43:43,0,4323	5	0	11	5
chr11	5544799	5544799	C	T	exonic	OR52H1	.	nonsynonymous SNV	OR52H1:NM_001005289:exon1:c.G725A:p.C242Y,	.	.	421	1100	1	0	0	1	0.000454339	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.005	B	0.063	B	0.013	N	1.000	N	1.495	L	8.76	T	-0.953	T	0.000	T	0.041	-0.596	1.335	1.22	0.210	-0.180	4.499	0.026	0.00243794738054	.	.	3.297e-05	9.615e-05	8.651e-05	0	0	0	0	0.0001	2.59e-05	4	154602	rs776567541	2.668e-05	2.736e-05	2.314e-05	3.025e-05	0.0005	1.997e-05	1.754e-05	0.0003	0.0002	0.0005	4.472e-05	0	5.038e-05	0	0.0002	6.295e-06	0.0001	4.637e-05	4.604e-05	4.598e-05	5.143e-05	4.04e-05	0.0001	2.111e-05	1.528e-05	4.746e-05	3.058e-05	0.0001	0	6.551e-05	0	0	0	0	1.47e-05	0	0	.	.	.	.	.	.	0.005	0.12996	B	0.063	0.27082	B	0.013441	0.28844	N	0.302543	1	0.08975	N	1.15	0.29295	L	.	.	.	.	.	.	.	.	-0.9533	0.40398	T	0.000	0.00152	T	10	0.05934915	0.07121	T	0.002438	0.04813	T	0.026	0.05648	0.361	0.36548	0.187945064343	0.18414	0.43170759477783643	0.43087	0.0211720181256	0.02094	0.177383169532	0.00072	T	1.4E-4	0.00020	T	-0.521307	0.00432	T	-0.749929	0.03488	T	0.147096455097198	0.16870	T	0.686731	0.29555	T	0.2583692	0.48886	0.20895676	0.45220	0.2583692	0.48886	0.20895676	0.45219	-5.875	0.45221	T	.	.	0.073	0.05188	B	.;.	.;.	0.815589	0.11866	8.433	0.57637635142240695	0.05813	0.09970	0.15602	N	AEFI	0.118630	0.23189	N	-1.07791310988197	0.07051	0.3264511	-1.11298073729716	0.07452	0.3625068	7.62031097096935E-4	0.07776	0.553676	0.25195	0	0.547309	0.14657	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	5.22	1.22	0.20300	0.343000	0.19686	.	.	-0.930000	0.02149	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.284:0.5057:0.0:0.2103	4.499	0.11264	705	0.57330	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2871.98	33	chr11	5544799	.	C	T	2871.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.727;DP=1157;ExcessHet=0.0000;FS=2.522;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.88;ReadPosRankSum=-7.920e-01;SOR=0.913	GT:AD:DP:GQ:PL	0/1:92,101:193:99:2886,0,2368	20	0	1	0
chr11	5581297	5581297	C	T	exonic	OR52B6	.	nonsynonymous SNV	OR52B6:NM_001005162:exon1:c.C421T:p.R141C,	.	.	424	1096	2	0	0	2	0.000911577	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.999	D	0.852	P	0.001	U	1.000	D	3.245	M	-1.09	T	0.197	D	0.465	T	0.287	3.489	17.84	4.22	1.367	0.070	12.944	0.401	.	0.0084	0.00698882	0.0024	0.0251	0.0015	0	0	0.0003	0	0	0.0022703	351	154602	rs114791744	0.0010	0.0010	0.0011	0.0009	0.0265	0.0009	0.0009	0.0251	0.0245	0.0265	0.0014	0.0004	2.519e-05	0	0.0031	0.0003	0.0022	1.16e-05	0.0076	0.0076	0.0081	0.0071	0.0260	0.0072	0.0071	0.0247	0.0242	0.0260	0	0.0026	0.0006	0	0	0.0034	0.0003	0.0038	0	0.007	0.59928	D	0.018	0.59732	D	0.999	0.77913	D	0.852	0.60758	P	0.001137	0.40136	U	0.000000	1	0.81001	D	2.5	0.72771	M	-1.09	0.77206	T	-7.75	0.95789	D	0.099	0.08088	0.197	0.85854	D	0.465	0.79345	T	10	0.009898633	0.00222	T	.	.	.	0.401	0.71479	.	.	0.8773146778	0.87611	0.5331956018731141	0.53244	0.0254043274005	0.02595	0.178682416677	0.00082	T	0.10925	0.42297	T	-0.398402	0.02372	T	-0.324781	0.42047	T	0.0594760992103871	0.07085	T	0.784922	0.42251	T	0.5162322	0.68042	0.40681246	0.65044	0.5162322	0.68043	0.40681246	0.65044	-5.179	0.38728	T	.	.	0.105	0.19154	B	.	.	3.065329	0.41183	21.3	0.99922997760709686	0.98852	0.46707	0.27820	N	AEFDGBHCI	0.262941	0.38058	N	0.373680192546072	0.60000	4.184376	0.235251744959151	0.51814	3.360812	0.862229570220504	0.25248	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	5.15	4.22	0.49153	-0.057000	0.11726	.	.	-0.201000	0.08892	0.001000	0.13787	0.000000	0.08366	0.722000	0.34836	0.0:0.9199:0.0:0.08	12.944	0.57759	793	0.45818	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	2218.98	137	chr11	5581297	.	C	T	2218.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=4.13;DP=2913;ExcessHet=0.0000;FS=0.555;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.33;ReadPosRankSum=-1.147e+00;SOR=0.645	GT:AD:DP:GQ:PL	0/1:106,74:180:99:2233,0,3002	20	0	1	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	1/2:0,50,25,0,0,0:75:99:.:.:2456,1034,1504,1514,0,2049,2601,1387,1919,3167,2601,1387,1919,3167,3167,2601,1387,1919,3167,3167,3167	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	1/2:0,50,25,0,0,0:75:99:.:.:2456,1034,1504,1514,0,2049,2601,1387,1919,3167,2601,1387,1919,3167,3167,2601,1387,1919,3167,3167,3167	0	5	0	0
chr11	6437081	6437081	G	A	exonic	HPX	.	nonsynonymous SNV	HPX:NM_000613:exon7:c.C800T:p.T267M,	.	.	423	1091	7	1	0	9	0.00410771	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.14	T	0.003	B	0.001	B	0.262	N	1.000	N	1.665	L	0.32	T	-0.983	T	0.183	T	0.073	0.783	8.132	1.65	0.035	1.193	7.634	0.099	0.00445136923178	7.7e-05	0.000399361	0.0006	9.625e-05	8.64e-05	0.0001	0	0.0003	0.0011	0.0029	0.0005175	80	154602	rs180923845	0.0006	0.0006	0.0004	0.0007	0.0040	0.0005	0.0005	0.0028	0.0027	0	0.0003	0	2.519e-05	0	0.0040	0.0004	0.0007	0.0031	0.0004	0.0004	0.0004	0.0004	0.0048	0.0003	0.0003	0.0033	0.0028	4.812e-05	0	0.0003	0	0	0	0.0136	0.0004	0.0014	0.0048	0.055	0.38407	T	0.085	0.41074	T	0.003	0.11197	B	0.001	0.04355	B	0.262427	0.03718	N	1.539910	1	0.08975	N	0.875	0.21512	L	0.32	0.58468	T	-3.39	0.66896	D	0.109	0.09490	-0.9834	0.34211	T	0.183	0.53118	T	10	0.009746462	0.00219	T	0.004451	0.10906	T	0.099	0.28413	.	.	0.252681307341	0.24864	0.4750191506890764	0.47420	0.244393863738	0.26944	0.253955602646	0.04196	T	0.21976	0.58286	T	-0.582485	0.00186	T	-0.612526	0.11781	T	0.00892574084697565	0.00111	T	0.549745	0.18930	T	0.045345016	0.07405	0.13261719	0.31820	0.045345016	0.07405	0.13261719	0.31819	-10.647	0.77687	D	.	.	0.074	0.05103	B	.	.	1.639102	0.20919	14.97	0.92898740946173697	0.22453	0.00097	0.00633	N	AEFBI	0.110487	0.21908	N	-1.10381763173796	0.06575	0.3030571	-1.08208074138626	0.08053	0.3943056	0.93575543691628	0.27226	0.553676	0.25195	0	0.588066	0.40923	0	0.602189	0.34648	0	0.620846	0.47308	0	.	.	5.25	1.65	0.23015	1.165000	0.31432	5.201000	0.47933	-0.666000	0.04332	0.001000	0.13787	0.409000	0.24749	0.803000	0.37862	0.651:0.0:0.349:0.0	7.634	0.27424	754	0.51307	Hemopexin-like domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2526.98	38	chr11	6437081	.	G	A	2526.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.39;DP=936;ExcessHet=0.0000;FS=2.277;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.33;ReadPosRankSum=0.202;SOR=0.854	GT:AD:DP:GQ:PL	0/1:122,101:223:99:2541,0,3127	20	0	1	0
chr11	6557229	6557229	G	A	exonic	DNHD1	.	nonsynonymous SNV	DNHD1:NM_144666:exon25:c.G7934A:p.R2645H,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09	T	0.978	D	0.375	B	.	.	1.000	D	0	N	1.41	T	-1.039	T	0.043	T	0.77	2.405	14.00	4.3	2.755	3.693	13.038	0.190	0.00565904057568	.	0.000399361	0.0004	0	0	0	0	0	0	0.0009	5.82e-05	9	154602	rs554435572	7.147e-05	6.84e-05	4.936e-05	9.418e-05	0.0008	5.968e-05	5.564e-05	0.0006	0.0006	6.33e-05	5.602e-05	0	2.798e-05	0	0	2.595e-05	0.0001	0.0008	5.252e-05	5.249e-05	3.855e-05	6.711e-05	0.0006	2.555e-05	1.829e-05	0.0002	8.989e-05	4.81e-05	0	0	0	0.0002	0	0	1.47e-05	0.0005	0.0006	0.132	0.26519	T	0.0	0.92824	D	0.978	0.58756	D	0.299	0.41006	B	.	.	.	.	0.666684	0.33103	D	1.59	0.40313	L	1.41	0.33412	T	-2.97	0.61865	D	0.575	0.59732	-1.0392	0.17556	T	0.043	0.18410	T	9	0.088510275	0.15248	T	0.005659	0.14651	T	0.190	0.46781	.	.	0.496495002422	0.49283	0.3516187561819895	0.35075	0.202126220832	0.22635	0.454451501369	0.32552	T	0.040203	0.25449	T	-0.247242	0.14438	T	-0.189916	0.55598	T	0.0988103213017669	0.12226	T	0.677432	0.28627	T	0.1507131	0.34297	0.16524628	0.38237	0.1507131	0.34297	0.16524628	0.38236	-6.11	0.47190	T	.	.	0.198	0.42007	B	.;.	.;.	3.810257	0.54953	23.6	0.99405263150921574	0.63028	0.84260	0.43342	D	AEFDBI	0.315658	0.42017	N	0.261951453500443	0.54233	3.589357	0.370812926571012	0.59772	4.157897	0.999243974306453	0.38873	0.615465	0.37627	0	0.633656	0.55848	0	0.658983	0.55881	0	0.567892	0.33627	0	.	.	5.28	4.3	0.50540	3.691000	0.54452	9.686000	0.81259	0.672000	0.70159	0.998000	0.41325	1.000000	0.68203	0.991000	0.66497	0.0898:0.0:0.9102:0.0	13.038	0.58290	464	0.78488	.;.	.	.	.	.	.	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	1547.98	86	chr11	6557229	.	G	A	1547.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.62;DP=1343;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.23;ReadPosRankSum=0.145;SOR=0.702	GT:AD:DP:GQ:PL	0/1:63,54:117:99:1562,0,1624	20	0	1	0
chr11	6609133	6609133	C	T	exonic	ILK	.	nonsynonymous SNV	ILK:NM_001014795:exon6:c.C595T:p.L199F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06	T	0.013	B	0.054	B	0.000	D	1.000	D	1.925	M	-3.3	D	0.387	D	0.763	D	0.442	2.562	14.53	5.14	2.658	2.169	17.762	0.520	0.131687766723	.	.	8.239e-06	0	0	0	0	1.499e-05	0	0	6.5e-06	1	154602	rs752409651	6.841e-07	6.84e-07	0	1.375e-06	.	0	0	.	.	0	0	0	0	0	0	0	1.656e-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	0.065	0.36310	T	0.088	0.40586	T	0.013	0.16609	B	0.054	0.25828	B	0.000018	0.62929	D	0.113733	0.999998	0.81001	D	2.76	0.80626	M	-3.3	0.93787	D	-2.32	0.51478	N	0.518	0.54845	0.387	0.88900	D	0.763	0.91943	D	10	0.5930804	0.66489	D	0.131688	0.81395	D	0.520	0.79583	0.794	0.91511	0.946055683232	0.94548	0.4018575831013763	0.40101	0.33366769303	0.35401	0.537844181061	0.44141	T	0.676429	0.90452	D	0.155832	0.69813	D	-0.0139345	0.69427	D	0.962533116340637	0.66396	D	0.928407	0.73561	D	0.44646436	0.63817	0.29157948	0.55183	0.44646436	0.63817	0.29157948	0.55182	-6.832	0.55717	T	.	.	0.518	0.65377	A	.;.;.;.;.	.;.;.;.;.	3.440857	0.47869	22.5	0.99655511122445706	0.77568	0.86403	0.45676	D	AEFBCI	0.502211	0.53472	D	0.0784537683439043	0.45458	2.802052	0.222979084681934	0.51124	3.297787	0.999999454376115	0.74766	0.722319	0.85440	0	0.697927	0.68747	0	0.702456	0.68683	0	0.735409	0.98432	0	.	.	5.14	5.14	0.70008	1.745000	0.37904	4.957000	0.46318	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:1.0:0.0:0.0	17.762	0.88375	503	0.75780	.;Serine-threonine/tyrosine-protein kinase, catalytic domain|Protein kinase domain|Integrin-linked protein kinase, pseudokinase domain;Serine-threonine/tyrosine-protein kinase, catalytic domain|Protein kinase domain|Integrin-linked protein kinase, pseudokinase domain;Serine-threonine/tyrosine-protein kinase, catalytic domain|Protein kinase domain|Integrin-linked protein kinase, pseudokinase domain;Serine-threonine/tyrosine-protein kinase, catalytic domain|Protein kinase domain|Integrin-linked protein kinase, pseudokinase 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	2317.98	38	chr11	6609133	.	C	T	2317.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.643e+00;DP=1373;ExcessHet=0.0000;FS=2.034;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.22;ReadPosRankSum=0.638;SOR=0.876	GT:AD:DP:GQ:PL	0/1:77,86:163:99:2332,0,2276	20	0	1	0
chr11	10559867	10559867	G	C	exonic	LYVE1	.	nonsynonymous SNV	LYVE1:NM_006691:exon5:c.C731G:p.A244G,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	1.0	D	0.998	D	0.000	D	1.000	D	2.215	M	2.62	T	-0.348	T	0.350	T	0.535	4.797	27.1	5.44	2.570	5.738	18.043	0.279	0.035680634441	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001	0.0010	0.0001	0.0001	0.0001	9.22e-05	8.745e-05	0.0001	0.0001	3.018e-05	0	3.84e-05	0	0	0	0.0001	8.361e-05	3.493e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	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	0.999976	0.53665	D	1.995	0.54099	M	2.62	0.57100	T	-2.2	0.74051	N	0.656	0.78072	-0.3484	0.73600	T	0.350	0.71439	T	10	0.7359656	0.74622	D	0.035681	0.56501	D	0.279	0.59619	0.486	0.56939	0.740229456086	0.73790	0.4308752596838396	0.43004	0.43936280621	0.43965	0.555330634117	0.46608	T	0.738373	0.92733	D	0.027231	0.55354	T	-0.198661	0.54773	T	0.952442526817322	0.63793	D	0.80142	0.48765	T	0.3713057	0.58681	0.47502097	0.69577	0.3713057	0.58681	0.47502097	0.69577	-3.975	0.23428	T	.	.	0.29	0.61572	B	.;.	.;.	4.798394	0.77943	26.8	0.99798832104841995	0.88372	0.95259	0.64030	D	AEFI	0.868902	0.78922	D	0.791556132315038	0.85574	8.616862	0.766818552650126	0.87408	9.211633	0.934815928530212	0.27187	0.615465	0.37627	0	0.563428	0.19063	0	0.547309	0.15389	0	0.655142	0.61905	0	.	.	5.44	5.44	0.79348	6.124000	0.71349	11.915000	0.99681	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:0.0:1.0:0.0	18.043	0.89248	516	0.74704	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2333	480.78	80	chr11	10559867	.	G	C,A	480.78	.	AC=1,6;AF=0.033,0.200;AN=30;BaseQRankSum=-3.132e+00;DP=2242;ExcessHet=2.5830;FS=198.804;InbreedingCoeff=-0.3113;MLEAC=1,7;MLEAF=0.033,0.233;MQ=60.00;MQRankSum=0.00;QD=0.60;ReadPosRankSum=0.321;SOR=11.670	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:83,0,29:112:93:.:.:93,328,2066,0,1739,1662	8	0	1	6
chr11	10559867	10559867	G	A	exonic	LYVE1	.	nonsynonymous SNV	LYVE1:NM_006691:exon5:c.C731T:p.A244V,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.13	T	1.0	D	0.998	D	0.000	D	1.000	D	2.215	M	2.74	T	-0.451	T	0.344	T	0.724	4.500	24.2	5.44	2.570	5.738	18.043	0.222	0.0316624712336	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1011426411	1.382e-05	1.372e-05	1.79e-05	9.716e-06	0.0009	9.03e-06	7.34e-06	0.0003	0.0002	3.015e-05	0	0	0	0	0.0009	1.184e-05	0	1.164e-05	1.322e-05	1.316e-05	1.291e-05	1.354e-05	1.473e-05	2.2e-06	8.2e-07	.	.	0	0	0	0	0	0	0.0032	1.473e-05	0	0	0.116	0.91255	T	0.0	0.92824	D	1.0	0.90584	D	0.998	0.88582	D	0.000001	0.84330	D	0.000000	0.999982	0.54805	D	1.995	0.54099	M	2.74	0.57100	T	-1.72	0.74051	N	0.743	0.83371	-0.4509	0.70370	T	0.344	0.70940	T	10	0.7525157	0.75742	D	0.031662	0.53686	D	0.222	0.51872	0.383	0.40134	0.752590173691	0.75035	0.5316431793870309	0.53089	0.438298358417	0.43869	0.586091697216	0.50943	T	0.380784	0.74325	T	0.128026	0.67169	D	-0.0538753	0.66757	D	0.953589856624603	0.64061	D	0.849515	0.57326	T	0.22611228	0.45285	0.23588851	0.48845	0.22611228	0.45285	0.23588851	0.48844	-4.267	0.27712	T	.	.	0.576	0.75037	P	.;.	.;.	4.864352	0.79626	27.1	0.99869083234187406	0.94726	0.94107	0.60133	D	AEFI	0.863055	0.78149	D	0.767749876461228	0.84054	8.182144	0.746411232723111	0.85890	8.717017	0.934815928530212	0.27187	0.615465	0.37627	0	0.563428	0.19063	0	0.547309	0.15389	0	0.655142	0.61905	0	.	.	5.44	5.44	0.79348	6.124000	0.71349	11.915000	0.99681	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:0.0:1.0:0.0	18.043	0.89248	516	0.74704	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.2333	480.78	80	chr11	10559867	.	G	C,A	480.78	.	AC=1,6;AF=0.033,0.200;AN=30;BaseQRankSum=-3.132e+00;DP=2242;ExcessHet=2.5830;FS=198.804;InbreedingCoeff=-0.3113;MLEAC=1,7;MLEAF=0.033,0.233;MQ=60.00;MQRankSum=0.00;QD=0.60;ReadPosRankSum=0.321;SOR=11.670	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:83,0,29:112:93:.:.:93,328,2066,0,1739,1662	8	0	1	6
chr11	11293106	11293106	C	T	exonic	GALNT18	.	nonsynonymous SNV	GALNT18:NM_001363464:exon9:c.G1414A:p.V472I	.	.	.	.	.	.	.	.	.	.	.	3254452	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.23	T	0.999	D	0.989	D	0.000	D	1.000	D	1.21	L	1.72	T	-1.088	T	0.125	T	0.461	4.714	26.2	5.7	2.688	5.695	18.407	0.153	0.00829286922079	0.0002	.	8.131e-05	0	0	0	0	0.0001	0	0	7.76e-05	12	154602	rs150701186	6.295e-05	9.371e-05	5.717e-05	6.907e-05	0.0012	5.111e-05	4.723e-05	0.0005	0.0004	3.928e-05	5.271e-05	0	0	2.187e-05	0.0012	5.672e-05	0.0001	0.0001	3.284e-05	3.283e-05	3.852e-05	2.689e-05	5.878e-05	1.26e-05	7.98e-06	1.972e-05	1.124e-05	0	0	0	0	0	0	0	5.878e-05	0.0005	0	0.566	0.06262	T	0.26	0.23029	T	0.999	0.77913	D	0.989	0.78396	D	0.000001	0.62929	D	0.000000	0.999981	0.54805	D	2.2	0.62015	M	1.72	0.26588	T	-0.5	0.15782	N	0.404	0.44474	-1.0883	0.05821	T	0.125	0.42987	T	10	0.37010005	0.53408	T	0.008293	0.21954	T	0.153	0.40148	.	.	0.637055726968	0.63407	0.24100303202374193	0.24014	0.337466723729	0.35739	0.711877882481	0.68865	T	0.021134	0.16509	T	-0.229948	0.16656	T	-0.362575	0.37755	T	0.246253043413162	0.22704	T	0.753225	0.37546	T	0.093962185	0.22081	0.09663242	0.22967	0.093962185	0.22080	0.09663242	0.22967	-4.11	0.25438	T	.	.	0.110	0.21277	B	.	.	3.409712	0.47294	22.4	0.99890657061371713	0.96513	0.97071	0.72521	D	AEFGBI	0.780678	0.71249	D	0.65098390479402	0.76433	6.485514	0.682546032860543	0.81055	7.437926	0.999999999995769	0.74766	0.706298	0.61202	0	0.633656	0.55848	0	0.709663	0.75317	0	0.564101	0.26826	0	.	.	5.7	5.7	0.88690	5.783000	0.68630	3.965000	0.40779	0.599000	0.40250	1.000000	0.71638	0.999000	0.35428	0.969000	0.54022	0.0:1.0:0.0:0.0	18.407	0.90483	939	0.14249	Ricin B, lectin domain|Ricin B, lectin domain|Ricin B, lectin domain|Ricin B, lectin domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1762.98	42	chr11	11293106	.	C	T	1762.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.858;DP=906;ExcessHet=0.0000;FS=1.325;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.33;ReadPosRankSum=-9.700e-02;SOR=0.837	GT:AD:DP:GQ:PL	0/1:71,72:143:99:1777,0,1683	20	0	1	0
chr11	12293628	12293628	G	A	exonic	MICALCL	.	nonsynonymous SNV	MICALCL:NM_032867:exon3:c.G197A:p.R66Q,	.	.	437	1018	62	5	0	72	0.0341556	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.46	T	0.0	B	0.0	B	0.530	N	1.000	N	-0.55	N	3.36	T	-0.917	T	0.003	T	0.056	1.156	9.708	-3.9	-0.778	-0.015	7.360	0.007	.	0.0046	0.00998403	0.0073	0.0015	0.0062	0.0242	0.0038	0.0056	0.0056	0.0110	0.0066558	1029	154602	rs148792670	0.0062	0.0062	0.0060	0.0064	0.0217	0.0061	0.0060	0.0186	0.0179	0.0008	0.0049	0.0054	0.0195	0.0027	0.0217	0.0056	0.0083	0.0099	0.0051	0.0052	0.0051	0.0052	0.0231	0.0048	0.0047	0.0197	0.0184	0.0010	0.0044	0.0056	0.0061	0.0231	0.0027	0.0170	0.0061	0.0071	0.0102	0.673	0.04521	T	0.502	0.11115	T	.	.	.	.	.	.	0.530288	0.11646	N	0.701301	1	0.08975	N	.	.	.	3.36	0.05918	T	0.25	0.04456	N	0.03	0.00717	-0.9170	0.45958	T	0.003	0.01026	T	10	0.0025303662	0.00038	T	.	.	.	0.007	0.00512	.	.	0.132336055621	0.12781	.	.	0.0162568994873	0.01562	0.216049045324	0.01094	T	.	.	.	-0.742639	0.00020	T	-0.818576	0.01482	T	0.00101569959699687	0.00010	T	0.488651	0.14976	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.103	0.18622	B	.;.	.;.	0.231460	0.06126	2.572	0.78592888275697237	0.12368	0.01101	0.04040	N	AEFDBI	0.030233	0.03004	N	-1.85835775263321	0.00417	0.0179525	-1.81897311249413	0.00700	0.03118622	0.955462753322834	0.28190	0.553676	0.25195	0	0.59043	0.45803	0	0.618467	0.43123	0	0.620846	0.47308	0	.	.	5.71	-3.9	0.03904	0.079000	0.14636	1.571000	0.27417	-0.763000	0.03499	0.079000	0.22314	0.968000	0.29604	0.003000	0.05239	0.3934:0.0:0.4217:0.1849	7.360	0.25913	906	0.23090	.;.	.	.	.	.	rs148792670	Likely benign	0	0	0	0	0	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	6833.68	34	chr11	12293628	.	G	A	6833.68	.	AC=3;AF=0.071;AN=42;BaseQRankSum=2.46;DP=1205;ExcessHet=0.3300;FS=0.523;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=12.65;ReadPosRankSum=0.135;SOR=0.761	GT:AD:DP:GQ:PL	0/1:76,85:161:99:2097,0,1748	18	0	3	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	2/4:0,0,19,0,19,0,0:38:99:.:.:1835,1647,1581,692,681,575,1647,1581,681,1581,739,728,0,728,629,1647,1581,681,1581,728,1581,1647,1581,681,1581,728,1581,1581	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	2/4:0,0,19,0,19,0,0:38:99:.:.:1835,1647,1581,692,681,575,1647,1581,681,1581,739,728,0,728,629,1647,1581,681,1581,728,1581,1647,1581,681,1581,728,1581,1581	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	2/4:0,0,19,0,19,0,0:38:99:.:.:1835,1647,1581,692,681,575,1647,1581,681,1581,739,728,0,728,629,1647,1581,681,1581,728,1581,1647,1581,681,1581,728,1581,1581	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	2/4:0,0,19,0,19,0,0:38:99:.:.:1835,1647,1581,692,681,575,1647,1581,681,1581,739,728,0,728,629,1647,1581,681,1581,728,1581,1647,1581,681,1581,728,1581,1581	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	2/4:0,0,19,0,19,0,0:38:99:.:.:1835,1647,1581,692,681,575,1647,1581,681,1581,739,728,0,728,629,1647,1581,681,1581,728,1581,1647,1581,681,1581,728,1581,1581	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	2/4:0,0,19,0,19,0,0:38:99:.:.:1835,1647,1581,692,681,575,1647,1581,681,1581,739,728,0,728,629,1647,1581,681,1581,728,1581,1647,1581,681,1581,728,1581,1581	6	0	4	0
chr11	22625254	22625254	G	A	exonic	FANCF	.	nonsynonymous SNV	FANCF:NM_022725:exon1:c.C557T:p.A186V,	Fanconi anemia, complementation group F	.	0	1443	79	0	0	79	0.0266442	.	.	138088	Ovarian_cancer|Malignant_tumor_of_breast|not_provided|not_specified|Fanconi_anemia|Fanconi_anemia_complementation_group_F	MONDO:MONDO:0008170,MedGen:C1140680,OMIM:167000,Orphanet:213500|MONDO:MONDO:0007254,MedGen:C0006142|MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650,Orphanet:84|MONDO:MONDO:0011325,MedGen:C3469526,OMIM:603467,Orphanet:84	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.6	T	0.04	B	0.062	B	0.034	N	1.000	N	0.345	N	1.5	T	-1.026	T	0.037	T	0.084	1.573	11.21	1.82	0.656	0.410	9.497	0.041	.	0.0057	0.00519169	0.0091	0.0011	0.0056	0.0002	0.0051	0.0103	0.0189	0.0175	0.0087256	1349	154602	rs113910234	0.0088	0.0088	0.0083	0.0092	0.0201	0.0086	0.0086	0.0171	0.0160	0.0010	0.0049	0.0038	2.519e-05	0.0056	0.0201	0.0091	0.0086	0.0167	0.0062	0.0062	0.0066	0.0059	0.0153	0.0059	0.0058	0.0125	0.0115	0.0015	0	0.0048	0.0055	0.0002	0.0039	0.0238	0.0097	0.0071	0.0153	0.446	0.09101	T	0.188	0.28669	T	0.04	0.21238	B	0.062	0.26930	B	0.033578	0.01773	N	2.075460	1	0.08975	N	0.345	0.11182	N	1.5	0.31205	T	-1.19	0.30346	N	0.078	0.05287	-1.0265	0.21593	T	0.037	0.15856	T	10	0.0028169155	0.00045	T	.	.	.	0.041	0.10877	.	.	0.162503812791	0.15892	0.12238860906299871	0.12165	0.248819774216	0.27451	0.349070757627	0.17785	T	0.071258	0.34164	T	-0.650317	0.00072	T	-0.693286	0.06201	T	0.00244706665336393	0.00025	T	0.450155	0.12692	T	0.047262046	0.08048	0.051013313	0.08125	0.042552084	0.06473	0.051013313	0.08124	-4.121	0.25599	T	0.22404178093100105	0.30252	0.098	0.16231	B	.	.	0.895746	0.12696	9.216	0.94939303724773183	0.25832	0.43237	0.27054	N	ALL	0.084762	0.17181	N	-1.31958861353704	0.03451	0.1541903	-1.28871962557727	0.04582	0.2164664	0.999999999986908	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.504199	0.09095	0	0.372554	0.06265	0	.	.	4.87	1.82	0.24209	0.252000	0.18046	0.114000	0.14823	-0.926000	0.02173	0.000000	0.06391	0.002000	0.18203	0.002000	0.04165	0.0:0.503:0.4183:0.0787	9.497	0.38162	899	0.25060	.	.	.	.	.	.	Likely benign	0	0	0	0	0	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	2661.98	34	chr11	22625254	.	G	A	2661.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.853;DP=913;ExcessHet=0.0000;FS=4.836;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.86;ReadPosRankSum=-1.167e+00;SOR=1.016	GT:AD:DP:GQ:PL	0/1:111,96:207:99:2676,0,2986	20	0	1	0
chr11	26721693	26721693	C	T	exonic	SLC5A12	.	nonsynonymous SNV	SLC5A12:NM_178498:exon1:c.G22A:p.V8I,	.	.	425	1060	36	1	0	38	0.0176089	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.35	T	0.027	B	0.015	B	0.751	N	1.000	N	0.575	N	-1.56	D	-0.958	T	0.086	T	0.088	0.556	7.009	2.53	0.332	0.209	6.128	0.132	.	0.0025	0.0203674	0.0088	0.0031	0.0022	0.0611	0.0032	0.0044	0.0079	0.0092	0.0085769	1326	154602	rs113908376	0.0055	0.0055	0.0053	0.0057	0.0777	0.0054	0.0053	0.0754	0.0745	0.0045	0.0026	0.0129	0.0777	0.0034	0.0415	0.0023	0.0088	0.0097	0.0059	0.0059	0.0059	0.0059	0.0662	0.0056	0.0055	0.0604	0.0582	0.0035	0	0.0031	0.0130	0.0662	0.0024	0.0442	0.0031	0.0090	0.0112	0.27	0.17069	T	0.246	0.23984	T	0.027	0.19556	B	0.015	0.17295	B	0.750577	0.09703	N	0.877530	1	0.08975	N	0.885	0.21608	L	-1.95	0.85003	D	-0.65	0.18877	N	0.04	0.03613	-0.9578	0.39589	T	0.086	0.33522	T	10	0.0024740994	0.00037	T	.	.	.	0.132	0.35948	.	.	0.163833314356	0.15978	0.06215875893013715	0.06155	0.154448843171	0.17448	0.238343030214	0.02643	T	0.006942	0.06364	T	-0.539797	0.00336	T	-0.4725	0.25246	T	0.00137920736496509	0.00014	T	0.448855	0.12628	T	0.033720206	0.03648	0.04206866	0.04925	0.033720206	0.03647	0.04206866	0.04925	-4.289	0.28023	T	.	.	0.072	0.07083	B	.;.	.;.	0.922954	0.12977	9.485	0.84574392258224262	0.15372	0.14310	0.18335	N	AEFI	0.172967	0.30002	N	-1.43860197420556	0.02308	0.1017523	-1.35497813986167	0.03747	0.1754482	0.25811658146829	0.18758	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.59	2.53	0.29594	0.132000	0.15716	0.811000	0.21752	-1.974000	0.00467	0.000000	0.06391	0.000000	0.08366	0.820000	0.38637	0.1026:0.6453:0.1004:0.1517	6.128	0.19406	759	0.50631	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	5584.92	36	chr11	26721693	.	C	T	5584.92	.	AC=4;AF=0.095;AN=42;BaseQRankSum=0.346;DP=1020;ExcessHet=0.6776;FS=0.000;InbreedingCoeff=-0.1053;MLEAC=4;MLEAF=0.095;MQ=60.00;MQRankSum=0.00;QD=13.30;ReadPosRankSum=0.186;SOR=0.699	GT:AD:DP:GQ:PL	0/1:61,53:114:99:1288,0,1679	17	0	4	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	0/2:14,0,13,7:34:82:239,247,510,0,307,312,82,313,128,247	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	0/2:14,0,13,7:34:82:239,247,510,0,307,312,82,313,128,247	0	0	0	0
chr11	44048169	44048169	G	A	exonic	ACCSL	.	nonsynonymous SNV	ACCSL:NM_001031854:exon1:c.G133A:p.V45M,	.	.	423	1060	38	1	0	40	0.0185185	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.15	T	0.066	B	0.002	B	0.003	N	1.000	N	0.205	N	-0.39	T	-1.057	T	0.023	T	0.093	0.848	8.430	-7.65	-1.945	-1.410	4.424	0.031	.	0.0017	0.0135783	0.0073	0.0003	0.0018	0.0314	0.0009	0.0025	0.0100	0.0243	0.0068046	1052	154602	rs11037840	0.0046	0.0046	0.0040	0.0052	0.0410	0.0045	0.0044	0.0393	0.0387	0.0002	0.0025	0.0034	0.0410	0.0018	0.0090	0.0021	0.0053	0.0236	0.0039	0.0039	0.0033	0.0046	0.0308	0.0036	0.0035	0.0269	0.0254	0.0004	0	0.0054	0.0035	0.0308	0.0013	0.0238	0.0026	0.0057	0.0234	0.222	0.18823	T	0.16	0.31427	T	0.066	0.23586	B	0.002	0.06944	B	0.002618	0.00901	N	2.970870	1	0.08975	N	0.69	0.16971	N	-0.39	0.69158	T	0.07	0.06138	N	0.047	0.01911	-1.0569	0.12543	T	0.023	0.09923	T	10	0.0025751293	0.00039	T	.	.	.	0.031	0.07369	.	.	0.0716867268079	0.06686	0.04342049856487919	0.04287	0.120582729042	0.13580	0.214530110359	0.01018	T	0.013261	0.11507	T	-0.602051	0.00142	T	-0.598852	0.12908	T	0.00030383192103696	0.00002	T	0.428957	0.11607	T	0.025415495	0.01476	0.04326167	0.05342	0.025415495	0.01476	0.04326167	0.05342	-4.368	0.29120	T	.	.	0.077	0.06433	B	.	.	-0.572966	0.01647	0.115	0.74320099359045411	0.10652	0.01112	0.04066	N	AEFDBCIJ	0.021505	0.00964	N	-1.61143685733911	0.01208	0.05254454	-1.73102905702715	0.01006	0.04512588	0.999315611491373	0.39113	0.549168	0.22868	0	0.627178	0.54094	0	0.597571	0.31856	0	0.530356	0.10902	0	.	.	3.83	-7.65	0.01142	-1.985000	0.01575	-4.734000	0.02010	-0.206000	0.08541	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.1387:0.3537:0.4062:0.1014	4.424	0.10920	912	0.21483	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	2567.98	35	chr11	44048169	.	G	A	2567.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.63;DP=907;ExcessHet=0.0000;FS=0.544;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.96;ReadPosRankSum=-2.330e-01;SOR=0.629	GT:AD:DP:GQ:PL	0/1:87,97:184:99:2582,0,2133	20	0	1	0
chr11	46680520	46680520	G	A	exonic	ARHGAP1	.	nonsynonymous SNV	ARHGAP1:NM_004308:exon9:c.C787T:p.L263F,	.	.	414	1062	44	2	0	48	0.0220994	.	.	724452	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.12	T	0.944	P	0.706	P	0.002	N	0.991	D	1.805	L	1.94	T	-0.936	T	0.139	T	0.54	3.242	16.87	2.09	0.289	2.062	3.121	0.033	.	0.0075	0.0061901	0.0075	0.0015	0.0024	0.0002	0.0011	0.0076	0.0056	0.0211	0.0074255	1148	154602	rs144801476	0.0085	0.0085	0.0081	0.0089	0.0219	0.0083	0.0083	0.0211	0.0207	0.0012	0.0041	0.0073	5.038e-05	0.0010	0.0116	0.0085	0.0084	0.0219	0.0063	0.0063	0.0061	0.0066	0.0220	0.0060	0.0059	0.0186	0.0173	0.0015	0	0.0073	0.0086	0.0002	0.0007	0.0102	0.0093	0.0052	0.0220	0.014	0.53172	D	0.131	0.34596	T	0.944	0.53183	P	0.706	0.54345	P	0.002202	0.37012	N	0.289856	0.990818	0.41242	D	1.59	0.40313	L	1.94	0.22678	T	-2.33	0.51646	N	0.586	0.60664	-0.9359	0.43257	T	0.139	0.45810	T	10	0.010460794	0.00233	T	.	.	.	0.230	0.53062	.	.	0.370424759081	0.36655	0.5728059168516507	0.57208	0.726963817646	0.62542	0.465059936047	0.34003	T	0.229299	0.59508	T	-0.422845	0.01641	T	-0.363244	0.37677	T	0.0448128616842394	0.04568	T	0.966303	0.87634	D	0.34336683	0.56546	0.21950996	0.46693	0.34336683	0.56546	0.21950996	0.46692	-8.915	0.67148	D	.	.	0.456	0.62489	A	.	.	3.736251	0.53476	23.4	0.99819281351141431	0.90238	0.88351	0.48239	D	AEFDGBCI	0.285061	0.39777	N	-0.0191197558799361	0.40991	2.443943	-0.030446427730066	0.38346	2.257928	0.989964223913407	0.31991	0.706298	0.61202	0	0.702456	0.74545	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.01	2.09	0.26154	2.089000	0.41297	7.457000	0.59017	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.625000	0.32026	0.1582:0.3719:0.3473:0.1225	3.121	0.06006	17	0.98681	Rho GTPase-activating protein domain|Rho GTPase-activating protein domain|Rho GTPase-activating protein domain	.	.	.	.	chr11:46702070	Uncertain significance	0	0	0	0	0	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	793.98	35	chr11	46680520	.	G	A	793.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.75;DP=831;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.41;ReadPosRankSum=-3.400e-01;SOR=0.644	GT:AD:DP:GQ:PL	0/1:37,27:64:99:808,0,1047	20	0	1	0
chr11	47216900	47216900	A	C	exonic	DDB2	.	nonsynonymous SNV	DDB2:NM_000107:exon3:c.A307C:p.I103L	Xeroderma pigmentosum, group E, DDB-negative subtype, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.004	B	0.004	B	0.000	D	1.000	N	0.345	N	1.72	T	-0.998	T	0.098	T	0.132	0.514	6.783	3.53	1.037	3.108	2.206	0.067	0.00410271108761	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.902	0.02862	T	1.0	0.01155	T	0.0	0.07471	B	0.0	0.08700	B	0.000015	0.62929	D	0.152594	1	0.81001	D	1.445	0.36358	L	-0.44	0.69777	T	-0.36	0.15178	N	0.149	0.19055	-0.9983	0.30395	T	0.098	0.36574	T	10	0.0802618	0.13008	T	0.004103	0.09806	T	0.067	0.19503	0.4	0.42917	0.631273993836	0.62825	0.3567535755733577	0.35589	0.372302872181	0.38724	0.456221938133	0.32794	T	0.006243	0.44746	T	-0.14028	0.29845	T	-0.439279	0.28888	T	0.21970222890377	0.21449	T	0.666933	0.28770	T	0.1402395	0.32364	0.05185924	0.08429	0.1402395	0.32363	0.05185924	0.08428	-2.457	0.37960	T	.	.	0.201	0.49137	B	.;.;.;.	.;.;.;.	1.901963	0.24156	16.29	0.81000352854232216	0.13471	0.69214	0.34100	D	AEGBCI	0.187634	0.31493	N	-0.458868711798641	0.23439	1.258793	-0.231715810452704	0.30408	1.71176	0.99999064347054	0.74766	0.627647	0.40530	0	0.672317	0.65289	0	0.685571	0.62057	0	0.657601	0.63696	0	.	.	5.78	3.53	0.39533	3.247000	0.51123	4.351000	0.43088	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.4933:0.2861:0.0977:0.1229	2.206	0.03695	32	0.98147	.;.;.;.	.	.	.	.	.	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	1221.98	36	chr11	47216900	.	A	C	1221.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.873;DP=780;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.87;ReadPosRankSum=0.371;SOR=0.612	GT:AD:DP:GQ:PL	0/1:30,47:77:99:1236,0,683	20	0	1	0
chr11	47284405	47284405	G	A	exonic	MADD	.	nonsynonymous SNV	MADD:NM_001376663:exon10:c.G1331A:p.G444E	.	.	0	225	1	0	0	1	0.00221729	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09	T	1.0	D	1.0	D	0.000	D	1.000	D	2.075	M	3.43	T	-1.230	T	0.078	T	0.971	4.925	28.5	6.17	2.941	7.548	20.879	0.391	0.00468716350497	.	.	1.648e-05	0	0	0	0	2.999e-05	0	0	1.29e-05	2	154602	rs775513347	4.788e-06	4.788e-06	2.722e-06	6.875e-06	5.396e-06	1.99e-06	1.28e-06	1.94e-06	1.28e-06	0	0	0	0	0	0	5.396e-06	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.68238	D	1.0	0.09329	T	0.999	0.90584	D	0.995	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	1.905	0.50856	L	3.21	0.07478	T	-2.79	0.61284	D	0.593	0.61680	-1.2303	0.00029	T	0.078	0.31163	T	10	0.3750846	0.53770	T	0.004687	0.11660	T	0.391	0.70684	0.203	0.11797	0.491317756052	0.48765	0.4507801745467601	0.44996	0.545405473843	0.51576	0.906606316566	0.97140	D	0.052938	0.61790	T	0.198959	0.73794	D	0.063501	0.74477	D	0.792697608470917	0.45866	D	0.956904	0.83911	D	0.5995454	0.72666	0.68341964	0.81390	0.5995454	0.72667	0.68341964	0.81391	-3.456	0.16139	T	.	.	0.381	0.83008	A	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	5.112556	0.85479	28.6	0.99788745261876599	0.87484	0.99436	0.96005	D	AEFDGBI	0.926940	0.90882	D	0.877195319181051	0.90597	10.47752	0.888947384405572	0.95073	13.28698	0.999999999999947	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	6.17	6.17	0.99707	7.668000	0.82869	11.905000	0.99459	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	20.879	0.99870	19	0.98577	.;.;.;.;.;.;.;.;.	.	.	.	.	.	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	1551.98	35	chr11	47284405	.	G	A	1551.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.020;DP=853;ExcessHet=0.0000;FS=1.501;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.93;ReadPosRankSum=-2.717e+00;SOR=0.522	GT:AD:DP:GQ:PL	0/1:61,59:120:99:1566,0,1745	20	0	1	0
chr11	47571628	47571628	G	C	exonic	PTPMT1	.	stoploss	PTPMT1:NM_175732:exon4:c.G605C:p.X202S,	.	.	429	1046	45	2	0	49	0.0228865	.	.	724472	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.000	N	.	.	.	.	.	.	.	.	.	1.987	12.60	3.83	0.763	1.426	8.671	.	.	0.0033	0.00479233	0.0048	0.0006	0.0021	0	0.0003	0.0031	0.0056	0.0206	0.0044889	694	154602	rs190036505	0.0045	0.0045	0.0040	0.0050	0.0216	0.0044	0.0044	0.0208	0.0205	0.0003	0.0034	0.0059	2.519e-05	0.0003	0.0097	0.0036	0.0057	0.0216	0.0033	0.0033	0.0030	0.0036	0.0176	0.0031	0.0030	0.0146	0.0135	0.0006	0	0.0064	0.0075	0	9.432e-05	0.0034	0.0038	0.0028	0.0176	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.19925	N	.	.	.	.	.	.	.	.	.	0.019	0.01911	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.708386	0.00033	T	-0.774067	0.02637	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.	.;.	1.093886	0.14780	11.32	0.81204982214846133	0.13571	0.23723	0.22168	N	AEFDBI	.	.	.	0.427615056586219	0.62947	4.519161	0.117655390967351	0.45451	2.808114	0.999995454322416	0.74766	0.295142	0.05270	0	0.30413	0.05452	0	0.320204	0.05785	0	0.322829	0.05601	0	0.0548293	0.12563	5.71	3.83	0.43287	1.475000	0.35017	4.555000	0.43818	0.656000	0.54149	0.275000	0.25094	1.000000	0.68203	0.258000	0.23468	0.1734:0.0:0.8266:0.0	8.671	0.33314	10	0.99061	.;.	.	.	.	.	.	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	0.02381	998.98	34	chr11	47571628	.	G	C	998.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.02;DP=769;ExcessHet=0.0000;FS=3.500;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.91;ReadPosRankSum=-3.600e-01;SOR=0.356	GT:AD:DP:GQ:PL	0/1:30,37:67:99:1013,0,767	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|2:207,0,43:250:99:0|1:56375918_A_G:1182,1806,10497,0,8692,8562:56375918	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|2:207,0,43:250:99:0|1:56375918_A_G:1182,1806,10497,0,8692,8562:56375918	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|2:207,0,43:250:99:0|1:56375918_A_G:1182,1806,10497,0,8692,8562:56375918	1	0	3	1
chr11	56989577	56989577	A	G	exonic	OR5AK2	.	nonsynonymous SNV	OR5AK2:NM_001005323:exon1:c.A664G:p.M222V,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.13	T	0.0	B	0.004	B	0.616	N	1.000	N	-0.955	N	8.86	T	-1.058	T	0.000	T	0.082	-0.565	1.451	-5.15	-1.163	-4.434	7.035	0.022	0.00120875364658	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.117	0.28271	T	0.207	0.26969	T	0.0	0.02946	B	0.004	0.10090	B	0.615743	0.05727	N	1.256980	1	0.08975	N	-1.195	0.00846	N	8.86	0.00033	T	-1.0	0.26422	N	0.048	0.01999	-1.0583	0.12184	T	0.000	0.00075	T	10	0.050272167	0.04736	T	0.001209	0.01583	T	0.022	0.04323	0.559	0.67821	0.107399877778	0.10242	0.11286169725300638	0.11214	.	.	0.240359127522	0.02823	T	9.58E-4	0.00501	T	-0.400951	0.02283	T	-0.813715	0.01583	T	0.0917167344193451	0.11420	T	0.782522	0.41827	T	0.08412165	0.19456	0.12309858	0.29686	0.08412165	0.19456	0.12309858	0.29686	-0.239	0.00445	T	.	.	0.065	0.01986	B	.	.	-1.461420	0.00319	0.005	0.2796996664618257	0.01414	0.02354	0.06714	N	AEFI	0.093640	0.18944	N	-1.60691270459289	0.01230	0.05350361	-1.6536336402542	0.01357	0.06128481	3.55658697927721E-4	0.06668	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.85	-5.15	0.02648	-6.255000	0.00090	.	.	0.542000	0.25261	0.000000	0.06391	0.000000	0.08366	0.041000	0.14368	0.633:0.2094:0.0:0.1575	7.035	0.24170	415	0.81806	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	0.02381	2998.98	35	chr11	56989577	.	A	G	2998.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.681e+00;DP=1068;ExcessHet=0.0000;FS=3.772;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.98;MQRankSum=-5.800e-02;QD=12.29;ReadPosRankSum=-1.255e+00;SOR=0.498	GT:AD:DP:GQ:PL	0/1:128,116:244:99:3013,0,3682	20	0	1	0
chr11	58402613	58402613	A	G	exonic	OR5B3	.	nonsynonymous SNV	OR5B3:NM_001005469:exon1:c.T797C:p.M266T,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.095	B	0.183	B	0.000	D	0.928	N	1.015	L	8.8	T	-1.046	T	0.000	T	0.127	1.797	11.97	4.06	1.839	0.108	7.835	0.134	.	0.0098	0.00938498	0.0028	0.0263	0.0011	0.0046	0	4.497e-05	0.0011	0.0002	0.0026455	409	154602	rs79345772	0.0008	0.0008	0.0009	0.0007	0.0284	0.0008	0.0008	0.0269	0.0263	0.0284	0.0012	0	0.0021	0	0.0012	6.296e-06	0.0018	0.0002	0.0077	0.0077	0.0074	0.0080	0.0269	0.0074	0.0072	0.0256	0.0251	0.0269	0	0.0017	0	0.0037	0	0	5.88e-05	0.0043	0.0004	0.007	0.59928	D	0.017	0.60337	D	0.095	0.25437	B	0.183	0.35961	B	0.000017	0.62929	D	0.000000	0.928	0.27123	N	0.73	0.18813	N	8.8	0.00050	T	-5.89	0.88767	D	0.193	0.21188	-1.0464	0.15418	T	0.000	0.00039	T	10	0.003175974	0.00053	T	.	.	.	0.134	0.36365	.	.	0.299770980665	0.29595	0.08287703240156402	0.08222	0.0978903917281	0.11043	0.22838306427	0.01850	T	0.01425	0.12170	T	-0.634256	0.00090	T	-0.662212	0.08118	T	0.066647436813198	0.08172	T	0.225777	0.02969	T	0.6056261	0.72993	0.754464	0.85488	0.6056261	0.72994	0.754464	0.85489	-6.153	0.47542	T	.	.	0.105	0.21840	B	.;.	.;.	2.597402	0.33711	19.42	0.97991654843583076	0.37408	0.05242	0.11075	N	AEFI	0.065907	0.12879	N	-0.3409326256914	0.27607	1.516014	-0.27209622143016	0.29021	1.622675	8.26847345480278E-5	0.04703	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.06	4.06	0.46572	0.460000	0.21635	2.402000	0.32598	0.658000	0.54486	0.000000	0.06391	0.014000	0.20376	0.976000	0.56436	0.8984:0.0:0.1015:0.0	7.835	0.28527	254	0.90023	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1737.98	34	chr11	58402613	.	A	G	1737.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.384e+00;DP=1347;ExcessHet=0.0000;FS=2.349;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.60;ReadPosRankSum=-2.921e+00;SOR=0.504	GT:AD:DP:GQ:PL	0/1:52,67:119:99:1752,0,1522	20	0	1	0
chr11	58579555	58579555	C	T	exonic	ZFP91	.	nonsynonymous SNV	ZFP91:NM_001197051:exon1:c.C274T:p.P92S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	0.0	B	0.0	B	0.000	N	0.993	N	0.345	N	3.03	T	-0.957	T	0.003	T	0.046	1.958	12.50	-0.933	0.188	-0.141	1.447	0.102	.	0.0097	0.0131789	0.0036	0.0506	0.0024	0	0	7.062e-05	0.0019	0.0002	0.0025808	399	154602	rs116054810	0.0009	0.0010	0.0011	0.0008	0.0379	0.0009	0.0009	0.0361	0.0353	0.0379	0.0016	0	0	0	0.0011	1.09e-05	0.0019	0.0001	0.0099	0.0100	0.0099	0.0100	0.0351	0.0095	0.0094	0.0336	0.0330	0.0351	0	0.0024	0	0	0	0	8.825e-05	0.0057	0.0002	0.002	0.72154	D	0.018	0.59732	D	0.0	0.02946	B	0.0	0.01387	B	0.000000	0.00162	N	15.234600	0.992823	0.23819	N	0	0.06538	N	3.03	0.08898	T	0.06	0.06253	N	0.057	0.02861	-0.9565	0.39825	T	0.003	0.00832	T	10	0.0022826195	0.00033	T	.	.	.	0.102	0.29158	.	.	0.043077524339	0.03247	0.07012687226508976	0.06949	0.228809772525	0.25434	0.678505539894	0.64054	T	0.047221	0.27658	T	-0.695005	0.00039	T	-0.743943	0.03727	T	0.0723485235630409	0.08977	T	0.651035	0.26183	T	0.20443146	0.42552	0.22168995	0.46989	0.20443146	0.42552	0.22168995	0.46988	-3.742	0.19940	T	.	.	0.083	0.09336	B	.	.	1.363477	0.17728	13.33	0.96029778987603143	0.28500	0.19388	0.20641	N	AEFGBHCIJ	0.032493	0.03683	N	-0.79713490836091	0.13385	0.6589811	-0.740591942281393	0.15954	0.8416335	0.999999999999295	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.519653	0.09787	0	0.56214	0.19341	0	.	.	3.76	-0.933	0.09900	-0.333000	0.07938	0.280000	0.16756	0.465000	0.21702	0.000000	0.06391	0.000000	0.08366	0.762000	0.36218	0.3685:0.3301:0.181:0.1204	1.447	0.02224	622	0.65860	.	.	.	.	.	.	Likely benign	0	0	0	0	0	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	943.98	34	chr11	58579555	.	C	T	943.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.60;DP=796;ExcessHet=0.0000;FS=2.292;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.00;ReadPosRankSum=-1.016e+00;SOR=1.121	GT:AD:DP:GQ:PL	0/1:26,33:59:99:958,0,693	20	0	1	0
chr11	59212828	59212828	G	A	exonic	MPEG1	.	nonsynonymous SNV	MPEG1:NM_001039396:exon1:c.C38T:p.A13V,	.	.	423	1098	1	0	0	1	0.000455166	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.0	B	0.0	B	0.819	N	1.000	N	-0.51	N	2.04	T	-0.988	T	0.007	T	0.048	-0.421	2.035	2.01	0.403	0.014	7.616	0.019	.	0.0076	0.00858626	0.0026	0.0260	0.0013	0	0	3.028e-05	0.0011	0.0023	0.0023609	365	154602	rs75908034	0.0009	0.0009	0.0010	0.0008	0.0277	0.0008	0.0008	0.0262	0.0256	0.0277	0.0015	0	2.519e-05	0	0.0005	3.148e-05	0.0017	0.0017	0.0078	0.0079	0.0076	0.0080	0.0270	0.0075	0.0073	0.0257	0.0252	0.0270	0	0.0029	0	0	0	0	5.88e-05	0.0057	0.0019	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.818769	0.09195	N	0.917727	1	0.08975	N	-1.395	0.00601	N	2.04	0.20808	T	0.73	0.02068	N	0.098	0.07949	-0.9881	0.33077	T	0.007	0.02244	T	10	0.0024175346	0.00036	T	.	.	.	0.019	0.03383	.	.	0.0920862733494	0.08535	0.3590470862790838	0.35818	0.0717544587107	0.08041	0.241576880217	0.02934	T	0.002516	0.01904	T	-0.7377	0.00021	T	-0.811482	0.01632	T	0.000850894764957265	0.00008	T	0.214779	0.02659	T	0.019197099	0.00446	0.031858798	0.01835	0.019197099	0.00446	0.031858798	0.01835	-3.066	0.10909	T	.	.	0.065	0.01960	B	.	.	0.047732	0.04620	1.286	0.72076719616062157	0.09848	0.00439	0.02144	N	AEFDGBHCI	0.036678	0.04925	N	-1.37900487436732	0.02835	0.1257706	-1.28860439325957	0.04584	0.2165462	0.999999838062315	0.74766	0.497415	0.19182	0	0.52208	0.09955	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.52	2.01	0.25568	-0.060000	0.11669	0.635000	0.20265	-0.050000	0.17177	0.000000	0.06391	0.000000	0.08366	0.065000	0.16320	0.7542:0.0:0.2458:0.0	7.616	0.27323	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	1866.98	38	chr11	59212828	.	G	A	1866.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.500e-02;DP=903;ExcessHet=0.0000;FS=6.052;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.82;ReadPosRankSum=-5.030e-01;SOR=1.255	GT:AD:DP:GQ:PL	0/1:49,69:118:99:1881,0,1181	20	0	1	0
chr11	61740527	61740527	G	C	exonic	DAGLA	.	nonsynonymous SNV	DAGLA:NM_006133:exon18:c.G1918C:p.V640L,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.14	T	0.984	D	0.956	D	0.000	D	1.000	D	1.895	L	1.75	T	-0.929	T	0.147	T	0.816	4.674	25.8	4.41	2.173	9.720	17.371	0.359	0.0303838687175	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.204	0.20078	T	0.084	0.41239	T	0.984	0.60733	D	0.956	0.69739	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.085	0.57729	M	1.75	0.26152	T	-1.66	0.39692	N	0.801	0.79696	-0.9294	0.44227	T	0.147	0.47183	T	10	0.85639554	0.84838	D	0.030384	0.52709	D	0.359	0.67962	0.717	0.85230	0.332276917938	0.32835	0.6045569509805981	0.60386	1.38609513779	0.84885	0.863340735435	0.91603	D	0.126602	0.45309	T	0.100887	0.64389	D	-0.0928586	0.63945	T	0.953071773052216	0.63941	D	0.949005	0.80370	D	0.34753636	0.56875	0.27692467	0.53642	0.34753636	0.56876	0.27692467	0.53641	-9.454	0.70572	D	.	.	0.932	0.85229	P	.	.	5.079334	0.84758	28.4	0.99721849654714378	0.82125	0.99768	0.99325	D	AEFBI	0.892349	0.82920	D	0.710803035018918	0.80340	7.272851	0.681479095580318	0.80974	7.419648	0.999999999989603	0.74766	0.651	0.46895	0	0.547309	0.14657	0	0.723109	0.80598	0	0.683762	0.67416	0	.	.	4.41	4.41	0.52588	9.852000	0.98385	11.590000	0.93399	0.662000	0.56354	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:1.0:0.0	17.371	0.87267	745	0.52414	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.4	7460.77	117	chr11	61740527	.	G	C	7460.77	.	AC=16;AF=0.400;AN=40;BaseQRankSum=-2.620e+00;DP=2290;ExcessHet=20.9642;FS=238.697;InbreedingCoeff=-0.6474;MLEAC=16;MLEAF=0.400;MQ=60.00;MQRankSum=0.00;QD=4.46;ReadPosRankSum=0.887;SOR=12.705	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:59,16:79:99:.:.:327,0,1494	4	0	16	1
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	0/1:59,31:90:99:.:.:396,0,1490	0	0	21	0
chr11	63290238	63290238	C	T	exonic	SLC22A10	.	nonsynonymous SNV	SLC22A10:NM_001039752:exon1:c.C73T:p.L25F,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.43	T	0.009	B	0.008	B	0.671	N	1.000	N	0.53	N	0.6	T	-1.033	T	0.070	T	0.175	-0.187	3.090	-3.69	-0.526	-5.774	4.736	0.027	0.00343814914755	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.299	0.14546	T	0.498	0.11263	T	0.009	0.15093	B	0.008	0.13708	B	0.670784	0.10343	N	0.836159	1	0.08975	N	0.585	0.15399	N	0.6	0.53731	T	-1.06	0.27669	N	0.111	0.09772	-1.0334	0.19363	T	0.070	0.28609	T	10	0.042034864	0.02914	T	0.003438	0.07755	T	0.027	0.05988	0.359	0.36222	0.0884992946249	0.08302	0.34639545789419457	0.34553	0.0155235919736	0.01479	0.325473725796	0.14249	T	0.004242	0.03650	T	-0.264077	0.12426	T	-0.617105	0.11413	T	0.986176431179047	0.76962	D	0.288571	0.05217	T	0.03839796	0.05108	0.03959984	0.04088	0.03839796	0.05108	0.03959984	0.04088	-4.392	0.29448	T	.	.	0.098	0.16363	B	.	.	-1.318392	0.00423	0.008	0.40667526190809317	0.02885	0.00529	0.02453	N	AEFBCI	0.062766	0.12086	N	-1.57802451807214	0.01378	0.06005529	-1.67294110990565	0.01262	0.05688687	0.996999245436295	0.35182	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	2.89	-3.69	0.04162	-5.163000	0.00171	-20.000000	0.00162	-0.584000	0.04686	0.000000	0.06391	0.000000	0.08366	0.005000	0.06747	0.1616:0.2773:0.0:0.561	4.736	0.12364	794	0.45591	.	.	.	.	.	.	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	0.1071	53.91	76	chr11	63290238	.	C	T	53.91	.	AC=3;AF=0.107;AN=28;BaseQRankSum=-2.497e+00;DP=1925;ExcessHet=0.3300;FS=103.985;InbreedingCoeff=-0.1952;MLEAC=4;MLEAF=0.143;MQ=60.00;MQRankSum=0.00;QD=0.20;ReadPosRankSum=-1.610e-01;SOR=9.844	GT:AD:DP:GQ:PL	0/1:73,22:100:15:15,0,1264	11	0	3	7
chr11	64914131	64914131	G	T	exonic	ATG2A	.	nonsynonymous SNV	ATG2A:NM_001367971:exon3:c.C437A:p.P146Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.45	T	0.89	P	0.521	P	0.003	N	1.000	D	1.265	L	0.38	T	-0.987	T	0.144	T	0.191	3.890	19.78	3.89	2.205	3.802	13.792	0.089	0.0211615926821	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.054	0.38633	T	0.175	0.29945	T	0.89	0.48942	P	0.521	0.48239	P	0.002788	0.35935	N	0.226724	0.999985	0.54805	D	1.555	0.39373	L	0.38	0.57575	T	-1.63	0.39119	N	0.35	0.39153	-0.9873	0.33273	T	0.144	0.46714	T	10	0.2113694	0.37563	T	0.021162	0.43885	T	0.089	0.25827	0.366	0.37361	0.187035705434	0.18338	0.4670436836217204	0.46623	1.17208794008	0.79793	0.496590554714	0.38353	T	0.012792	0.11182	T	-0.120391	0.33059	T	-0.41071	0.32143	T	0.896789252758026	0.54857	D	0.720728	0.33361	T	0.09863943	0.23268	0.14412205	0.34227	0.09863943	0.23268	0.14412205	0.34226	-9.331	0.69802	D	.	.	0.138	0.30211	B	.	.	3.955204	0.57969	23.9	0.98821099219611519	0.46786	0.94943	0.62871	D	AEFDBI	0.498063	0.53232	N	0.117858701148678	0.47297	2.957332	0.110016611736745	0.45059	2.775971	0.999999986756825	0.74766	0.695654	0.57023	0	0.611049	0.52481	0	0.723109	0.80598	0	0.635551	0.53088	0	.	.	3.89	3.89	0.44098	3.338000	0.51846	7.472000	0.59162	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.392000	0.26603	0.0:0.0:1.0:0.0	13.792	0.62640	300	0.87974	.	.	.	.	.	.	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	86.1	35	chr11	64914131	.	G	T	86.1	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-2.157e+00;DP=779;ExcessHet=0.1072;FS=73.932;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=0.99;ReadPosRankSum=-1.132e+00;SOR=6.183	GT:AD:DP:GQ:PL	0/1:41,11:52:32:32,0,1086	19	0	2	0
chr11	66052418	66052418	G	C	exonic	SF3B2	.	nonsynonymous SNV	SF3B2:NM_006842:exon1:c.G34C:p.E12Q,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.516	P	0.188	B	0.000	D	0.559	N	0	N	.	.	-0.952	T	0.062	T	0.26	4.183	21.7	5.09	2.804	4.561	14.193	0.182	0.00639592384601	.	.	8.48e-06	0	0	0	0	0	0	6.081e-05	6.5e-06	1	154602	rs770902372	6.846e-07	6.84e-07	0	1.376e-06	1.16e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.16e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.016	0.60972	D	0.155	0.37437	B	0.064	0.36237	B	0.000022	0.55875	D	0.066998	0.558806	0.31274	N	0	0.06538	N	.	.	.	-0.45	0.37566	N	0.378	0.42443	-0.9519	0.40643	T	0.062	0.25958	T	9	0.21353737	0.37848	T	0.006396	0.16812	T	0.182	0.45420	0.099	0.01433	0.29966067498	0.29572	0.36835568587972933	0.36749	0.755709929242	0.64003	0.705034375191	0.67872	T	0.011866	0.28472	T	-0.113986	0.34111	T	-0.30088	0.44632	T	0.60858313703083	0.36743	D	0.908709	0.67605	D	0.49291757	0.66676	0.5018084	0.71200	0.49291757	0.66677	0.5018084	0.71200	-3.916	0.22542	T	.	.	0.140	0.44410	B	.;.;.;.;.	.;.;.;.;.	3.791441	0.54572	23.5	0.99527853208015127	0.69653	0.94009	0.59839	D	AEFGBHCIJ	0.666495	0.63494	D	0.0378392263819865	0.43585	2.648469	0.209522232028352	0.50375	3.230215	1.0	0.98316	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	5.09	5.09	0.68647	4.964000	0.63410	11.832000	0.97554	0.672000	0.70159	1.000000	0.71638	1.000000	0.68203	0.918000	0.45347	0.0:0.0:1.0:0.0	14.193	0.65190	199	0.92292	.;.;.;.;.	.	.	.	.	.	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	685.98	34	chr11	66052418	.	G	C	685.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.681;DP=750;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.72;ReadPosRankSum=-6.390e-01;SOR=0.748	GT:AD:DP:GQ:PL	0/1:37,27:64:99:700,0,957	20	0	1	0
chr11	66475677	66475677	C	T	exonic	PELI3	.	nonsynonymous SNV	PELI3:NM_001243136:exon6:c.C599T:p.A200V	.	.	425	1093	4	0	0	4	0.00182648	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06	T	0.769	P	0.322	B	0.007	N	1.000	D	0.895	L	0.92	T	-1.085	T	0.058	T	0.331	3.141	16.50	4.9	2.560	1.300	10.64	0.039	.	0.0036	0.00139776	0.0045	0.0016	0.0004	0	0.0208	0.0054	0.0047	0.0012	0.0041203	637	154602	rs145732233	0.0047	0.0047	0.0047	0.0046	0.0048	0.0046	0.0045	0.0047	0.0046	0.0005	0.0009	0.0015	0	0.0201	0.0007	0.0048	0.0038	0.0013	0.0042	0.0042	0.0039	0.0045	0.0055	0.0039	0.0038	0.0050	0.0048	0.0008	0	0.0013	0.0009	0	0.0186	0	0.0055	0.0028	0.0008	0.056	0.38185	T	0.141	0.33442	T	0.727	0.43848	P	0.145	0.41795	B	0.007043	0.31632	N	0.259745	0.984128	0.40103	D	1.245	0.31408	L	0.92	0.44461	T	-1.12	0.28906	N	0.103	0.23884	-1.0849	0.06426	T	0.058	0.24502	T	10	0.010930598	0.00241	T	.	.	.	0.039	0.10176	.	.	0.583271498735	0.57999	0.4810572397729619	0.48025	0.83421735577	0.67749	0.61224091053	0.54633	T	0.02869	0.20727	T	-0.472264	0.00823	T	-0.441756	0.28612	T	0.00885535528896873	0.00110	T	0.931507	0.74506	D	0.073516704	0.16433	0.09990103	0.23868	0.073516704	0.16432	0.09990103	0.23867	-7.275	0.58087	T	.	.	0.104	0.20196	B	.;.;.;.	.;.;.;.	4.500916	0.70397	25.5	0.99881846269505992	0.95813	0.64791	0.32522	D	AEFDBHCI	0.236132	0.35863	N	0.0472934403333761	0.44017	2.683598	0.10759202702841	0.44934	2.765843	0.999999781536556	0.74766	0.660377	0.49826	0	0.588066	0.40923	0	0.645312	0.48771	0	0.592323	0.36904	0	.	.	4.9	4.9	0.63643	2.245000	0.42784	4.881000	0.45666	0.599000	0.40250	0.960000	0.33603	1.000000	0.68203	0.898000	0.43474	0.1911:0.8089:0.0:0.0	10.64	0.44780	60	0.97424	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	1970.98	35	chr11	66475677	.	C	T	1970.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.943e+00;DP=827;ExcessHet=0.0000;FS=1.484;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.89;ReadPosRankSum=1.30;SOR=0.727	GT:AD:DP:GQ:PL	0/1:46,78:124:99:1985,0,1081	20	0	1	0
chr11	66564636	66564636	C	T	exonic	CTSF	.	nonsynonymous SNV	CTSF:NM_003793:exon11:c.G1243A:p.G415R,	Ceroid lipofuscinosis, neuronal, 13, Kufs type, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	1427001	Neuronal_ceroid_lipofuscinosis_13|Inborn_genetic_diseases	MONDO:MONDO:0014147,MedGen:C3715049,OMIM:615362,Orphanet:352709,Orphanet:79262|MeSH:D030342,MedGen:C0950123	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0	D	1.0	D	0.998	D	0.000	D	1.000	D	4.155	H	-3.41	D	0.578	D	0.632	D	0.909	4.433	23.6	4.32	2.247	6.197	14.365	0.306	0.432236889033	.	0.000199681	0.0001	0	0.0006	0	0	0.0001	0	8.735e-05	7.76e-05	12	154602	rs200426008	2.196e-05	2.189e-05	1.774e-05	2.623e-05	0.0002	1.589e-05	1.36e-05	8.988e-05	6.518e-05	0	0.0002	0.0002	0	0	0	1.442e-05	4.988e-05	1.169e-05	6.568e-05	6.562e-05	5.14e-05	8.061e-05	0.0004	3.515e-05	2.615e-05	0.0002	0.0001	2.407e-05	0	0.0004	0.0003	0	0	0	1.471e-05	0	0.0002	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	4.38	0.98579	H	-3.41	0.94306	D	-7.94	0.96294	D	0.974	0.98466	0.578	0.91603	D	0.632	0.87102	D	10	0.9689919	0.96447	D	0.432237	0.94004	D	0.916	0.97814	0.906	0.98027	0.949938693277	0.94941	0.9397367826506339	0.93954	0.891413311981	0.70245	0.520286142826	0.41667	T	0.927596	0.98751	D	0.326008	0.84893	D	0.499811	0.94627	D	0.996051371097565	0.88579	D	0.985401	0.94968	D	0.9293659	0.94174	0.86813647	0.92737	0.9293659	0.94175	0.86813647	0.92737	-13.764	0.92265	D	0.8171741704782416	0.89094	0.894	0.82375	P	.	.	6.523177	0.95346	34	0.9989704437024105	0.96971	0.98847	0.87641	D	AEFBI	0.766127	0.70240	D	0.559136708225321	0.70640	5.531363	0.50188893158437	0.68117	5.17608	0.999999838298634	0.74766	0.660377	0.49826	0	0.588066	0.40923	0	0.696353	0.63694	0	0.655142	0.61905	0	.	.	4.32	4.32	0.50899	6.380000	0.73090	7.568000	0.60641	0.587000	0.30956	0.997000	0.40164	1.000000	0.68203	0.906000	0.44173	0.0:1.0:0.0:0.0	14.365	0.66362	59	0.97452	Peptidase C1A, papain C-terminal|Peptidase C1A, papain C-terminal|Papain-like cysteine endopeptidase	.	.	.	.	.	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	1893.98	35	chr11	66564636	.	C	T	1893.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.747;DP=865;ExcessHet=0.0000;FS=5.666;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.76;ReadPosRankSum=-9.120e-01;SOR=0.642	GT:AD:DP:GQ:PL	0/1:82,79:161:99:1908,0,1911	20	0	1	0
chr11	66744819	66744819	-	GGCGGCGGCGGC	exonic	C11orf80	.	nonframeshift insertion	C11orf80:NM_024650:exon1:c.77_78insGGCGGCGGCGGC:p.A34_G35insAAAA,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0016	0	0.0263	0	.	0.0018	0	0.0009	0.0001682	26	154602	rs567536854	0.0073	0.0075	0.0073	0.0073	0.0076	0.0072	0.0071	0.0075	0.0074	0.0029	0.0051	0.0060	0.0063	0.0104	0.0035	0.0076	0.0060	0.0026	0.0074	0.0075	0.0078	0.0071	0.0102	0.0071	0.0069	0.0088	0.0086	0.0037	0.0022	0.0072	0.0079	0.0102	0.0097	0	0.0094	0.0117	0.0038	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4762	25402.44	33	chr11	66744819	.	G	GGGC,GGGCGGC,GGGCGGCGGCGGC	25402.44	.	AC=18,3,1;AF=0.429,0.071,0.024;AN=42;BaseQRankSum=-1.780e-01;DP=1238;ExcessHet=1.0911;FS=0.000;InbreedingCoeff=0.0455;MLEAC=18,3,1;MLEAF=0.429,0.071,0.024;MQ=60.00;MQRankSum=0.00;QD=27.88;ReadPosRankSum=-4.000e-02;SOR=0.747	GT:AD:DP:GQ:PL	1/1:0,65,0,0:65:99:2731,195,0,2732,195,2732,2732,195,2732,2732	5	4	8	0
chr11	68684970	68684970	C	T	exonic	GAL	.	nonsynonymous SNV	GAL:NM_015973:exon2:c.C47T:p.A16V,	.	.	376	1129	17	0	0	17	0.00747253	.	.	461414	Familial_temporal_lobe_epilepsy_8|GAL-related_disorder	MONDO:MONDO:0014650,MedGen:C4225318,OMIM:616461,Orphanet:101046|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.11	T	0.004	B	0.003	B	0.004	N	1.000	N	0.63	N	0.75	T	-1.071	T	0.048	T	0.16	0.135	4.724	-0.281	-0.327	0.007	5.742	0.022	.	0.0075	0.00319489	0.0093	0.0036	0.0036	0	0.0174	0.0147	0.0091	0.0006	0.0002689	7	26028	rs34725707	0.0094	0.0094	0.0095	0.0092	0.0158	0.0092	0.0092	0.0131	0.0121	0.0018	0.0038	0.0178	5.053e-05	0.0090	0.0158	0.0107	0.0084	0.0008	0.0078	0.0078	0.0084	0.0071	0.0117	0.0074	0.0073	0.0110	0.0108	0.0022	0.0581	0.0055	0.0161	0	0.0070	0.0340	0.0117	0.0080	0.0014	0.074	0.34621	T	0.211	0.26631	T	0.004	0.12183	B	0.003	0.08700	B	0.004420	0.33773	N	0.175343	1	0.08975	N	0.625	0.15840	N	0.75	0.50192	T	-2.08	0.47514	N	0.294	0.33250	-1.0705	0.09304	T	0.048	0.20672	T	10	0.0037229955	0.00069	T	.	.	.	0.022	0.04323	.	.	0.266385636622	0.26244	0.46524765153598124	0.46443	0.124533949667	0.14028	0.759079813957	0.75793	T	0.267734	0.63980	T	-0.561301	0.00249	T	-0.568016	0.15631	T	0.0035308506453494	0.00037	T	0.50155	0.15709	T	0.05087655	0.09258	0.08119726	0.18433	0.050707705	0.09200	0.093469195	0.22078	-4.662	0.32941	T	0.2107107631511819	0.28236	0.153	0.33755	B	.	.	0.973316	0.13505	10.03	0.96283159077788261	0.29289	0.07220	0.13244	N	AEFDGBHCI	0.053037	0.09522	N	-1.26434989333123	0.04113	0.1850227	-1.32421258392229	0.04119	0.1936277	0.999892411868818	0.45129	0.766844	0.99359	0	0.610034	0.51514	0	0.851219	0.99655	0	0.604282	0.37693	0	.	.	2.89	-0.281	0.12244	-0.012000	0.12637	-0.275000	0.10316	-0.383000	0.05380	0.000000	0.06391	0.000000	0.08366	0.023000	0.12082	0.0:0.6006:0.0:0.3994	5.742	0.17366	809	0.43032	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	382.98	33	chr11	68684970	.	C	T	382.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.960e-01;DP=758;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=7.23;ReadPosRankSum=-1.809e+00;SOR=0.638	GT:AD:DP:GQ:PL	0/1:33,20:53:99:397,0,818	20	0	1	0
chr11	72697184	72697184	C	T	exonic	ARAP1	.	nonsynonymous SNV	ARAP1:NM_001135190:exon19:c.G2047A:p.E683K	.	.	405	1111	6	0	0	6	0.002693	.	.	2386266	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.28	T	1.0	D	0.965	D	0.000	D	1.000	D	1.88	L	1.49	T	-0.648	T	0.292	T	0.917	4.690	25.9	5.2	2.424	7.421	17.316	0.343	0.0352227462812	0.0002	.	0.0002	0	0	0	0	0.0002	0.0012	0.0003	0.0001552	24	154602	rs367648910	0.0002	0.0002	0.0002	0.0002	0.0021	0.0002	0.0001	0.0012	0.0009	0.0001	4.483e-05	0.0005	2.53e-05	0	0.0021	0.0002	0.0004	0.0003	9.281e-05	9.232e-05	7.782e-05	0.0001	0.0002	5.575e-05	4.402e-05	5.33e-05	2.847e-05	2.436e-05	0	0.0002	0	0	0	0.0035	8.851e-05	0.0009	0.0002	0.259	0.17014	T	0.002	0.92824	D	1.0	0.90584	D	0.959	0.70163	D	0.000017	0.62929	D	0.113575	0.999997	0.58761	D	2.445	0.70938	M	1.49	0.55608	T	-1.87	0.43717	N	0.887	0.88577	-0.6480	0.62801	T	0.292	0.66384	T	10	0.5443243	0.63897	D	0.035223	0.56205	D	0.343	0.66488	.	.	0.564616066205	0.56124	0.8763382312587995	0.87600	1.00374466657	0.74509	0.871534943581	0.92787	D	0.041857	0.45569	T	0.0526726	0.58687	T	0.138208	0.79429	D	0.783013343811035	0.45240	D	0.987301	0.96783	D	0.4064121	0.61174	0.23676905	0.48957	0.4064121	0.61175	0.23676905	0.48956	-12.277	0.88363	D	.	.	0.716	0.73625	P	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	5.243601	0.88032	29.4	0.99882210899235024	0.95813	0.98736	0.86194	D	ALL	0.940757	0.94315	D	0.61300853795972	0.73997	6.058283	0.61443644004411	0.75988	6.40885	0.999999999999958	0.74766	0.839682	0.99964	0	0.702456	0.74545	0	0.736553	0.94036	0	0.714379	0.83352	0	.	.	5.2	5.2	0.71720	5.736000	0.68239	7.600000	0.61533	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.439000	0.27649	0.0:1.0:0.0:0.0	17.316	0.87111	439	0.80177	.;Rho GTPase-activating protein domain|Rho GTPase-activating protein domain|Rho GTPase-activating protein domain|ARAP, RhoGAP domain;.;.;Rho GTPase-activating protein domain|Rho GTPase-activating protein domain|Rho GTPase-activating protein domain|ARAP, RhoGAP domain;Rho GTPase-activating protein domain|Rho GTPase-activating protein domain|Rho GTPase-activating protein domain|ARAP, RhoGAP domain;.;Rho GTPase-activating protein domain|Rho GTPase-activating protein domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1517.98	38	chr11	72697184	.	C	T	1517.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.01;DP=900;ExcessHet=0.0000;FS=4.627;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.55;ReadPosRankSum=-1.920e-01;SOR=0.714	GT:AD:DP:GQ:PL	0/1:57,55:112:99:1532,0,1415	20	0	1	0
chr11	74289130	74289130	C	A	exonic	P4HA3	.	nonsynonymous SNV	P4HA3:NM_001288748:exon5:c.G718T:p.A240S	.	.	.	.	.	.	.	.	.	0.8807	0.532	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	T	0.435	B	0.084	B	0.000	D	0.919	N	1.7	L	0.02	T	-0.780	T	0.183	T	0.197	1.748	11.81	4.54	2.822	2.826	13.103	0.105	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1485380008	7.013e-07	1.368e-05	1.394e-06	0	9.136e-07	0	0	.	.	0	0	0	0	0	0	9.136e-07	0	0	0	6.672e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.369	0.12109	T	0.624	0.07342	T	0.002	0.09854	B	0.007	0.12992	B	0.000007	0.62929	D	0.109431	0.919329	0.27330	N	2.47	0.71715	M	0.02	0.62318	T	-0.26	0.11185	N	0.503	0.57518	-0.7800	0.56303	T	0.183	0.53133	T	10	0.43005258	0.57430	T	0.012719	0.31538	T	0.105	0.29889	0.62	0.75461	0.597869843003	0.59466	0.15516475899739487	0.15437	0.0636332509253	0.07085	0.434165477753	0.29779	T	0.14338	0.47946	T	-0.111285	0.34555	T	-0.39763	0.33661	T	0.816074073314667	0.47483	D	0.836316	0.50742	T	0.091020934	0.21317	0.08798497	0.20486	0.091020934	0.21316	0.08798497	0.20485	-5.576	0.45943	T	.	.	0.109	0.27433	B	.;.	.;.	3.577172	0.50415	22.9	0.98763516333551482	0.45847	0.92049	0.54832	D	AEFDBIJ	0.497315	0.53189	N	0.0295223905476418	0.43201	2.617726	0.127038249076202	0.45937	2.848128	0.999999185478745	0.74766	0.780599	0.99702	0	0.573888	0.26702	0	0.573888	0.23631	0	0.600164	0.37192	1	.	.	4.54	4.54	0.55220	2.833000	0.47861	5.680000	0.49291	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.748000	0.35716	0.0:1.0:0.0:0.0	13.103	0.58648	566	0.70798	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	45.98	38	chr11	74289130	.	C	A	45.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-7.360e-01;DP=625;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=3.54;ReadPosRankSum=0.741;SOR=0.283	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:9,4:13:60:0|1:74289130_C_A:60,0,260:74289130	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	0/1:88,87:175:99:2207,0,2273	18	0	3	0
chr11	78756962	78756962	G	T	exonic	TENM4	.	nonsynonymous SNV	TENM4:NM_001098816:exon19:c.C2599A:p.P867T,	Tremor, hereditary essential, 5, Autosomal dominant	.	421	1100	1	0	0	1	0.000454339	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.005	B	0.004	B	0.005	N	1.000	N	1.295	L	2.91	T	-0.997	T	0.019	T	0.112	0.008	4.058	2.26	0.798	0.367	5.101	0.025	0.00481888179513	0.0002	0.000199681	6.68e-05	0.0001	0.0003	0	0	6.03e-05	0	0	7.12e-05	11	154602	rs376224501	6.157e-05	6.156e-05	5.718e-05	6.601e-05	0.0009	5.095e-05	4.716e-05	0.0003	0.0002	0.0002	0.0002	0	0	0	0.0009	4.947e-05	0.0002	0	9.191e-05	9.186e-05	0.0001	8.055e-05	0.0001	5.523e-05	4.361e-05	4.765e-05	3.339e-05	7.215e-05	0	0.0001	0	0	0	0	0.0001	0.0009	0	0.771	0.03373	T	0.824	0.03783	T	0.005	0.12996	B	0.004	0.10090	B	0.004719	0.33466	N	0.294558	0.999982	0.18198	N	0.66	0.16226	N	2.91	0.10008	T	-3.37	0.66665	D	0.11	0.09631	-0.9968	0.30810	T	0.019	0.07939	T	9	0.063393295	0.08250	T	0.004819	0.12066	T	0.025	0.05312	.	.	0.043077524339	0.03247	0.40409660182373114	0.40325	0.311149175292	0.33418	0.301138162613	0.10570	T	0.586011	0.86516	D	-0.541335	0.00329	T	-0.713645	0.05109	T	0.0195494073521937	0.00658	T	0.862414	0.55771	D	0.07575738	0.17089	0.1096401	0.26427	0.07575738	0.17089	0.1096401	0.26426	-4.33	0.28596	T	0.17650480380946654	0.22526	0.075	0.05491	B	.	.	0.812004	0.11827	8.399	0.61675319822948149	0.06769	0.56306	0.30083	D	AEFBI	0.092932	0.18809	N	-0.400945783145214	0.25436	1.380768	-0.290802616845485	0.28399	1.583268	0.00419256919098191	0.10453	0.553676	0.25195	0	0.59043	0.45803	0	0.618467	0.43123	0	0.620846	0.47308	0	.	.	5.26	2.26	0.27418	0.297000	0.18856	1.349000	0.25794	-0.108000	0.15293	0.599000	0.27739	0.870000	0.27582	0.471000	0.28363	0.3421:0.2042:0.4537:0.0	5.101	0.14091	918	0.19598	.	.	.	.	.	.	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	1255.98	36	chr11	78756962	.	G	T	1255.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.24;DP=785;ExcessHet=0.0000;FS=0.800;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.96;ReadPosRankSum=-5.570e-01;SOR=0.868	GT:AD:DP:GQ:PL	0/1:44,46:90:99:1270,0,1095	20	0	1	0
chr11	86807809	86807809	G	A	exonic	PRSS23	.	nonsynonymous SNV	PRSS23:NM_001293179:exon2:c.G166A:p.E56K	.	.	427	1090	5	0	0	5	0.00228833	.	.	2813643	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	.	.	0.001	B	0.001	B	0.012	N	0.982	D	1.185	L	.	.	-1.052	T	0.089	T	0.431	0.025	4.142	1.85	0.093	1.018	9.843	0.100	0.00490730873814	0.0048	0.00159744	0.0051	0.0013	0.0015	0	0.0044	0.0083	0.0066	0.0003	0.005181	801	154602	rs143933691	0.0057	0.0057	0.0059	0.0056	0.0068	0.0056	0.0056	0.0067	0.0066	0.0011	0.0014	0.0047	2.519e-05	0.0053	0.0024	0.0068	0.0048	0.0003	0.0039	0.0040	0.0042	0.0037	0.0070	0.0037	0.0036	0.0065	0.0063	0.0010	0	0.0018	0.0046	0	0.0027	0	0.0070	0.0057	0	0.296	0.14694	T	0.245	0.24054	T	0.001	0.07471	B	0.001	0.04355	B	0.012096	0.29294	N	0.404642	0.982409	0.39888	D	0.875	0.21512	L	.	.	.	-1.22	0.30964	N	0.08	0.05542	-1.0516	0.13954	T	0.089	0.34188	T	8	0.0061273575	0.00138	T	0.004907	0.12349	T	0.100	0.28662	.	.	0.292787519742	0.28880	0.4225146030115104	0.42168	0.209783114347	0.23452	0.353740036488	0.18471	T	0.01825	0.21550	T	-0.426184	0.01564	T	-0.376998	0.36073	T	0.00232326891906804	0.00024	T	0.809319	0.45944	T	0.0518816	0.09595	0.053630996	0.09072	0.0518816	0.09595	0.053630996	0.09072	-4.016	0.24042	T	0.11285562263399106	0.09811	0.069	0.02960	B	.;.	.;.	0.246467	0.06261	2.716	0.93936637022928982	0.23989	0.58002	0.30525	D	AEFBCI	0.190252	0.31748	N	-0.758312768891248	0.14408	0.7174757	-0.693779592248153	0.17115	0.9086285	0.999742636879434	0.42466	0.722319	0.85440	0	0.563428	0.19063	0	0.709663	0.75317	0	0.735409	0.98432	0	.	.	5.8	1.85	0.24418	0.927000	0.28418	-0.050000	0.12557	-0.734000	0.03706	0.597000	0.27722	0.000000	0.08366	0.116000	0.19000	0.2772:0.0:0.7228:0.0	9.843	0.40177	833	0.38804	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	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	2069.98	36	chr11	86807809	.	G	A	2069.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.240;DP=868;ExcessHet=0.0000;FS=0.613;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.89;ReadPosRankSum=0.249;SOR=0.799	GT:AD:DP:GQ:PL	0/1:70,79:149:99:2084,0,1824	20	0	1	0
chr11	90086869	90086869	G	A	exonic	UBTFL1	.	nonsynonymous SNV	UBTFL1:NM_001143975:exon1:c.G920A:p.G307D,	.	.	566	937	16	3	0	22	0.0116034	.	.	2813651	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00139776	0.0260	0.0208	0.25	0	.	0.0326	0	0	0.0015368	40	26028	rs199875717	0.0084	0.0083	0.0084	0.0083	0.0302	0.0082	0.0081	0.0253	0.0234	0.0013	0.0084	0.0069	0	0.0015	0.0302	0.0099	0.0076	0.0044	0.0060	0.0062	0.0067	0.0052	0.0093	0.0056	0.0055	0.0086	0.0084	0.0014	0.0423	0.0065	0.0075	0	0.0008	0.0305	0.0093	0.0059	0.0031	.	.	.	0.692	0.05882	T	0.974	0.57829	D	0.497	0.47562	P	.	.	.	.	.	.	.	1.385	0.34509	L	.	.	.	.	.	.	0.064	0.03613	.	.	.	.	.	.	.	0.0019410849	0.00027	T	.	.	.	.	.	.	.	0.0482279557977	0.04254	0.1124879100645688	0.11177	.	.	0.672924399376	0.63254	T	0.023023	0.17644	T	-0.438589	0.01318	T	-0.407082	0.32562	T	.	.	.	0.425557	0.11413	T	0.106925346	0.25282	0.20098138	0.44057	0.106925346	0.25282	0.20098138	0.44056	-7.118	0.54890	T	.	.	0.375	0.58108	A	.	.	2.076388	0.26409	17.11	0.79514727965751031	0.12776	0.00824	0.03324	N	AEFI	.	.	.	.	.	.	.	.	.	1.97945905968477E-6	0.01202	0.061011	0.01085	0	0.063388	0.01293	0	0.063197	0.01477	0	0.057018	0.00518	0	0.0431032	0.02392	0.999	0.999	0.18981	1.269000	0.32677	-2.534000	0.03638	0.311000	0.19140	0.007000	0.17678	0.000000	0.08366	0.463000	0.28185	0.0:0.0:1.0:0.0	5.393	0.15554	911	0.21964	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.075	586.74	19	chr11	90086869	.	G	A	586.74	.	AC=3;AF=0.075;AN=40;BaseQRankSum=-8.800e-02;DP=587;ExcessHet=0.0000;FS=1.227;InbreedingCoeff=0.6392;MLEAC=3;MLEAF=0.075;MQ=30.97;MQRankSum=1.81;QD=9.31;ReadPosRankSum=0.393;SOR=0.400	GT:AD:DP:GQ:PL	1/1:0,10:10:30:341,30,0	18	1	1	1
chr11	94478810	94478810	T	C	exonic	MRE11	.	nonsynonymous SNV	MRE11:NM_001330347:exon6:c.A469G:p.M157V	Ataxia-telangiectasia-like disorder, Autosomal recessive	.	0	224	1	1	0	3	0.00665188	.	.	152190	Hereditary_cancer-predisposing_syndrome|not_provided|Hereditary_breast_ovarian_cancer_syndrome|Ataxia-telangiectasia-like_disorder_1|Ataxia-telangiectasia-like_disorder	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MedGen:C3661900|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,Orphanet:145|MONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391,Orphanet:251347|MONDO:MONDO:0011457,MedGen:C1858391,OMIM:PS604391	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.3	T	0.019	B	0.049	B	0.000	D	0.990	N	0.805	L	-1.32	T	-0.861	T	0.226	T	0.152	1.312	10.30	4.42	0.930	0.507	7.927	0.156	0.0532767714862	.	0.00119808	0.0002	9.621e-05	0	0.0020	0	0	0	6.062e-05	0.0001746	27	154602	rs147771140	0.0002	0.0002	0.0002	0.0002	0.0046	0.0001	0.0001	0.0040	0.0038	2.988e-05	8.946e-05	0	0.0046	0	0	2.878e-05	4.969e-05	9.276e-05	0.0001	0.0001	0.0001	6.712e-05	0.0027	6.506e-05	5.318e-05	0.0016	0.0013	0	0	6.537e-05	0	0.0027	0	0	1.47e-05	0	0	0.292	0.17821	T	0.269	0.22426	T	0.0	0.17989	B	0.002	0.25116	B	0.000475	0.44119	D	0.280361	0.990459	0.24169	N	0	0.06538	N	-1.32	0.79761	T	-0.23	0.13611	N	0.243	0.31478	-0.8613	0.51169	T	0.226	0.59007	T	10	0.010507375	0.00233	T	0.053277	0.65404	D	0.156	0.40720	.	.	0.516604699598	0.51303	0.28827614273214514	0.28740	0.0855303882618	0.09661	0.310985445976	0.12056	T	0.271632	0.64398	T	-0.405669	0.02124	T	-0.362755	0.37733	T	0.0140643556907489	0.00273	T	0.805419	0.47040	T	0.06948043	0.15226	0.097648405	0.23250	0.0662327	0.14232	0.11164829	0.26932	-2.456	0.05808	T	.	.	0.051	0.00533	B	.;.;.;.;.	.;.;.;.;.	0.965026	0.13415	9.925	0.93869662479309102	0.23879	0.32975	0.24716	N	AEFGBI	0.119322	0.23293	N	-0.526663318087286	0.21222	1.124617	-0.387138051057223	0.25380	1.395355	0.793980024125849	0.24064	0.732398	0.92422	0	0.724815	0.89359	0	0.724815	0.87919	0	0.727631	0.95156	0	.	.	5.54	4.42	0.52775	0.532000	0.22776	-1.274000	0.05845	0.597000	0.34315	0.158000	0.23769	0.000000	0.08366	0.991000	0.66497	0.0:0.0716:0.1373:0.7912	7.927	0.29043	877	0.30165	Calcineurin-like phosphoesterase domain, ApaH type;.;.;Calcineurin-like phosphoesterase domain, ApaH type;Calcineurin-like phosphoesterase domain, ApaH 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	0.02381	2695.98	35	chr11	94478810	.	T	C	2695.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.317e+00;DP=918;ExcessHet=0.0000;FS=1.052;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.37;ReadPosRankSum=0.877;SOR=0.612	GT:AD:DP:GQ:PL	0/1:107,111:218:99:2710,0,2793	20	0	1	0
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	1/1:1,101,0:102:99:.:.:4305,284,0,4308,306,4330	0	17	3	0
chr11	100976869	100976869	A	G	exonic	ARHGAP42	.	nonsynonymous SNV	ARHGAP42:NM_152432:exon21:c.A2291G:p.E764G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	T	0.319	B	0.081	B	0.000	D	1.000	D	0.895	L	3.26	T	-0.988	T	0.020	T	0.42	3.021	16.08	5.96	2.285	8.739	16.448	0.157	0.00939113306455	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.064	0.36509	T	0.33	0.21678	T	0.319	0.32965	B	0.081	0.28987	B	0.000096	0.51296	D	0.082989	0.999311	0.49512	D	0.695	0.17993	N	3.16	0.07711	T	-1.89	0.44094	N	0.218	0.24385	-0.9883	0.33027	T	0.020	0.08453	T	10	0.16143036	0.30281	T	0.009391	0.24623	T	0.157	0.40909	0.158	0.06178	0.202086224978	0.19791	0.31463402663422724	0.31376	.	.	0.378580957651	0.22054	T	0.006664	0.06088	T	-0.143137	0.29391	T	-0.443383	0.28429	T	0.611052393913269	0.36843	D	0.787021	0.42574	T	0.09668663	0.22777	0.204285	0.44545	0.09668663	0.22776	0.204285	0.44544	-4.338	0.28706	T	.	.	0.079	0.07083	B	.;.	.;.	3.892573	0.56649	23.8	0.99793936787335302	0.87928	0.99594	0.97801	D	AEFBI	0.892074	0.82866	D	0.145350673101438	0.48592	3.069584	0.318271584317243	0.56613	3.824911	0.999975837544878	0.50053	0.609539	0.35627	0	0.588015	0.36545	0	0.493711	0.08198	1	0.655142	0.61905	0	.	.	5.96	5.96	0.96695	6.962000	0.75842	11.049000	0.85275	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.560000	0.30412	1.0:0.0:0.0:0.0	16.448	0.83801	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	0.025	1659.33	70	chr11	100976869	.	A	G	1659.33	.	AC=1;AF=0.025;AN=40;BaseQRankSum=-7.100e-01;DP=934;ExcessHet=0.0000;FS=1.527;InbreedingCoeff=-0.0256;MLEAC=1;MLEAF=0.025;MQ=60.00;MQRankSum=0.00;QD=15.36;ReadPosRankSum=0.095;SOR=0.554	GT:AD:DP:GQ:PL	0/1:53,55:108:99:1673,0,1481	19	0	1	1
chr11	111354305	111354305	C	T	exonic	POU2AF1	.	nonsynonymous SNV	POU2AF1:NM_006235:exon5:c.G727A:p.D243N,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.32	T	0.008	B	0.004	B	0.005	N	1.000	N	0.805	L	1.39	T	-1.050	T	0.057	T	0.03	2.346	13.80	4.1	1.187	3.934	9.981	0.091	0.00570974248915	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.42e-06	3.42e-06	5.445e-06	1.375e-06	4.496e-06	1e-06	7.3e-07	1.32e-06	9.6e-07	0	0	0	0	0	0	4.496e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.434	0.09430	T	0.179	0.29540	T	0.008	0.14655	B	0.004	0.10090	B	0.004746	0.33426	N	0.239831	0.999983	0.18198	N	0.46	0.12951	N	1.39	0.33842	T	-2.35	0.51968	N	0.092	0.07125	-1.0496	0.14509	T	0.057	0.24130	T	10	0.13112116	0.24955	T	0.00571	0.14802	T	0.091	0.26358	0.594	0.72371	0.23798241625	0.23396	0.3550282439785532	0.35416	0.259709678954	0.28527	0.403230726719	0.25519	T	0.335649	0.70524	T	-0.321189	0.06801	T	-0.699142	0.05873	T	0.414706647396088	0.29494	T	0.815518	0.47040	T	0.05515931	0.10683	0.048234615	0.07119	0.05515931	0.10683	0.048234615	0.07119	-4.171	0.26330	T	.	.	0.082	0.08609	B	.	.	2.656825	0.34605	19.67	0.99530576045322838	0.69839	0.68194	0.33710	D	AEFDBCI	0.203641	0.33014	N	-0.336541862849867	0.27770	1.526277	-0.20361604460059	0.31406	1.777072	0.999999888499456	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.07	4.1	0.47196	3.983000	0.56625	4.101000	0.41864	0.599000	0.40250	0.993000	0.37899	0.996000	0.32793	0.274000	0.23868	0.0:0.8879:0.0:0.1121	9.981	0.40984	420	0.81451	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	926.98	35	chr11	111354305	.	C	T	926.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.279;DP=816;ExcessHet=0.0000;FS=3.615;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.28;ReadPosRankSum=2.02;SOR=0.695	GT:AD:DP:GQ:PL	0/1:71,41:112:99:941,0,1887	20	0	1	0
chr11	111995109	111995109	G	A	splicing	DIXDC1	NM_001037954:exon15:c.1527+1G>A;NM_033425:exon11:c.894+1G>A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.000	D	.	.	.	.	.	.	.	.	.	2.952	15.84	5.28	2.747	4.594	15.773	.	.	0.0002	.	5.809e-05	0	0	0	0	0.0001	0	0	5.17e-05	8	154602	rs200500225	0.0001	0.0001	0.0001	0.0001	0.0002	0.0001	0.0001	0.0002	0.0001	2.988e-05	0	0	0	0	0	0.0002	8.284e-05	0	5.914e-05	5.91e-05	0.0001	1.345e-05	0.0001	3.077e-05	2.21e-05	5.842e-05	4.239e-05	2.413e-05	0	0	0	0	0	0	0.0001	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.212738	0.75088	D	0.272357	0.86706	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.	.;.	4.837213	0.78940	27.0	0.98875853064259678	0.47736	0.85745	0.44912	D	AEFBI	.	.	.	1.05822714774478	0.97280	15.86759	0.88936341588444	0.95091	13.30425	0.0127605060117101	0.12370	0.099367	0.02607	0	0.084543	0.02171	0	0.128073	0.03558	0	0.117559	0.03655	0	0.971359	0.73620	5.28	5.28	0.74118	4.817000	0.62340	11.567000	0.93263	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.845000	0.39915	0.0:0.0:1.0:0.0	15.773	0.77955	702	0.57624	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1615.98	39	chr11	111995109	.	G	A	1615.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.11;DP=808;ExcessHet=0.0000;FS=0.675;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.14;ReadPosRankSum=0.099;SOR=0.622	GT:AD:DP:GQ:PL	0/1:58,65:123:99:1630,0,1361	20	0	1	0
chr11	117207131	117207131	G	A	exonic	PCSK7	.	nonsynonymous SNV	PCSK7:NM_004716:exon15:c.C1816T:p.R606W,	.	.	441	1077	4	0	0	4	0.00185357	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.003	B	0.002	B	0.892	N	1.000	D	1.79	L	-1.09	T	-0.588	T	0.351	T	0.192	1.821	12.05	3.05	0.607	1.434	6.062	0.182	0.145571357645	.	.	9.591e-05	0.0002	9.208e-05	0	0	6.234e-05	0	0.0003	3.84e-05	1	26028	rs201872222	5.315e-05	5.867e-05	5.045e-05	5.579e-05	0.0004	4.286e-05	3.909e-05	7.747e-05	6.036e-05	0.0001	0.0002	0	0	0	0.0004	4.577e-05	1.909e-05	0.0001	9.52e-05	9.214e-05	5.287e-05	0.0001	0.0002	5.713e-05	4.609e-05	9.865e-05	7.178e-05	0.0002	0	0.0002	0	0	0	0	4.508e-05	0	0	0.108	0.29420	T	0.025	0.56192	D	0.003	0.11197	B	0.002	0.06944	B	0.892466	0.08678	N	0.951899	1	0.81001	D	1.905	0.50856	L	-1.09	0.77206	T	-3.94	0.73378	D	0.215	0.24010	-0.5877	0.65312	T	0.351	0.71470	T	10	0.18249875	0.33532	T	0.145571	0.82775	D	0.182	0.45420	0.538	0.64874	0.496495002422	0.49283	0.6246161565136455	0.62394	1.95682666535	0.93407	0.196738094091	0.00368	T	0.236345	0.60379	T	-0.25919	0.12995	T	-0.340785	0.40255	T	0.0578861319365189	0.06831	T	0.878012	0.59262	D	0.08505345	0.19713	0.09197179	0.21652	0.08505345	0.19713	0.09197179	0.21652	-10.337	0.75904	D	.	.	0.109	0.20819	B	.	.	4.246010	0.64416	24.7	0.97135264335819393	0.32516	0.61627	0.31540	D	AEFDGBCI	0.372526	0.45814	N	-0.496173646414745	0.22205	1.184057	-0.423411722882384	0.24312	1.330637	0.992604062976427	0.32901	0.732398	0.92422	0	0.743671	0.97443	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	5.01	3.05	0.34272	1.262000	0.32594	7.419000	0.58701	-0.166000	0.11466	0.512000	0.27048	1.000000	0.68203	0.870000	0.41412	0.0968:0.0:0.5781:0.3251	6.062	0.19072	650	0.62973	P domain|P 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	795.98	33	chr11	117207131	.	G	A	795.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.17;DP=910;ExcessHet=0.0000;FS=6.193;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=38.51;MQRankSum=-2.164e+00;QD=4.17;ReadPosRankSum=0.333;SOR=1.260	GT:AD:DP:GQ:PL	0/1:150,41:191:99:810,0,4228	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	0/2:79,0,56:135:99:.:.:1936,2174,5414,0,3240,3066	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	0/2:79,0,56:135:99:.:.:1936,2174,5414,0,3240,3066	1	0	0	0
chr11	118527604	118527604	-	AGA	exonic	TTC36	.	nonframeshift insertion	TTC36:NM_001080441:exon1:c.110_111insAGA:p.E39_D40insE,	.	.	423	1096	3	0	0	3	0.00136674	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.65e-05	0	0	0	0	1.5e-05	0	6.089e-05	1.29e-05	2	154602	rs782749029	4.107e-06	4.104e-06	2.724e-06	5.503e-06	0.0005	1.48e-06	9.7e-07	0.0001	7.546e-05	0	0	0	0	0	0.0005	0	1.656e-05	2.319e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1264.94	34	chr11	118527604	.	G	GAGA	1264.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.11;DP=757;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=20.08;ReadPosRankSum=-1.287e+00;SOR=0.606	GT:AD:DP:GQ:PL	0/1:30,33:63:99:1279,0,1161	20	0	1	0
chr11	120330187	120330187	A	G	exonic	TLCD5	.	nonsynonymous SNV	TLCD5:NM_001198675:exon2:c.A107G:p.N36S	.	.	0	225	1	0	0	1	0.00221729	.	.	3346140	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.5	T	0.996	D	0.921	D	0.000	D	1.000	D	1.36	L	-1.87	D	0.001	D	0.609	D	0.235	3.960	20.3	4.91	1.069	9.220	13.445	0.601	0.0349769064747	.	0.000399361	0.0008	0.0002	0	0	0	0.0003	0.0024	0.0028	0.0002846	44	154602	rs527644222	0.0002	0.0002	0.0002	0.0003	0.0025	0.0002	0.0002	0.0023	0.0021	3.04e-05	7.821e-05	0.0018	0	0	0.0014	4.757e-05	0.0002	0.0025	0.0002	0.0002	0.0001	0.0003	0.0029	0.0001	0.0001	0.0018	0.0014	0	0	6.548e-05	0.0023	0	0	0	4.411e-05	0.0005	0.0029	0.095	0.34444	T	0.0	0.92824	D	0.996	0.68779	D	0.921	0.65636	D	0.000000	0.84330	D	0.039896	1	0.81001	D	1.865	0.49290	L	-1.87	0.84415	D	-2.44	0.53420	N	0.737	0.78737	0.001	0.82287	D	0.609	0.86157	D	10	0.072579324	0.10852	T	0.034977	0.56039	D	0.601	0.84237	.	.	0.698452811345	0.69584	0.809407120335403	0.80895	0.409815521761	0.41790	0.554991185665	0.46561	T	0.656862	0.89654	D	-0.282554	0.10399	T	-0.184813	0.56074	T	0.0758827360547949	0.09452	T	0.960404	0.85375	D	0.16846016	0.37305	0.17105156	0.39259	0.16846016	0.37305	0.17105156	0.39258	-7.965	0.66882	D	.	.	0.496	0.65718	A	.;.	.;.	4.392426	0.67793	25.1	0.99858961551093162	0.93729	0.97257	0.73623	D	AEFBHCI	0.930876	0.91885	D	0.527565484461839	0.68727	5.256989	0.556267161321514	0.71836	5.715715	0.999999997020648	0.74766	0.706548	0.73137	0	0.546412	0.12157	0	0.724815	0.87919	0	0.662433	0.64102	0	.	.	6.06	4.91	0.63897	9.207000	0.94192	11.212000	0.89433	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.991000	0.66497	0.8692:0.1308:0.0:0.0	13.445	0.60584	301	0.87912	TRAM/LAG1/CLN8 homology domain|TRAM/LAG1/CLN8 homology domain|TRAM/LAG1/CLN8 homology 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	0.04762	2935.11	149	chr11	120330187	.	A	G	2935.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=2.93;DP=966;ExcessHet=0.1072;FS=0.916;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=10.02;ReadPosRankSum=0.896;SOR=0.778	GT:AD:DP:GQ:PL	0/1:86,58:144:99:1551,0,2231	19	0	2	0
chr11	124440622	124440622	C	T	exonic	OR8B8	.	nonsynonymous SNV	OR8B8:NM_012378:exon1:c.G464A:p.G155E,	.	.	424	1062	34	2	0	38	0.0175763	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07	T	0.848	P	0.651	P	0.031	N	1.000	N	1.9	L	1.21	T	-0.999	T	0.113	T	0.514	2.387	13.94	3.52	2.257	0.182	4.610	0.135	0.00438921995786	0.0021	0.000998403	0.0028	0.0002	0.0010	0	0.0002	0.0026	0.0077	0.0085	0.0024644	381	154602	rs140865479	0.0024	0.0024	0.0022	0.0026	0.0094	0.0023	0.0023	0.0078	0.0076	0.0004	0.0015	0.0113	0	1.872e-05	0.0094	0.0020	0.0029	0.0083	0.0020	0.0020	0.0020	0.0021	0.0064	0.0018	0.0018	0.0047	0.0041	0.0004	0	0.0030	0.0127	0	9.425e-05	0	0.0024	0.0028	0.0064	0.065	0.36310	T	0.106	0.37872	T	0.848	0.46844	P	0.651	0.52497	P	0.031170	0.25205	N	0.280453	1	0.08975	N	1.46	0.36832	L	1.21	0.37230	T	-5.93	0.89029	D	0.161	0.16864	-0.9993	0.30115	T	0.113	0.40354	T	10	0.008491397	0.00192	T	0.004389	0.10718	T	0.135	0.36572	.	.	0.667980572847	0.66518	0.6225345544862408	0.62186	0.0525529913828	0.05790	0.266837418079	0.05732	T	0.019694	0.15640	T	-0.446841	0.01179	T	-0.408376	0.32412	T	0.0992580273878766	0.12276	T	0.412859	0.10744	T	0.35347536	0.57336	0.3822487	0.63215	0.35347536	0.57337	0.3822487	0.63215	-7.199	0.55474	T	.	.	0.447	0.62038	A	.;.	.;.	4.085704	0.60807	24.3	0.99434978174576394	0.64472	0.08460	0.14386	N	AEFBCI	0.068063	0.13408	N	0.101083701202438	0.46514	2.890536	0.0160951037361045	0.40462	2.415092	0.999707412909964	0.41986	0.487112	0.14033	0	0.563428	0.19063	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	3.52	3.52	0.39415	0.418000	0.20950	.	.	0.599000	0.40250	0.001000	0.13787	0.206000	0.23607	0.974000	0.55675	0.0:0.7221:0.0:0.2779	4.610	0.11784	769	0.49307	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	2960.98	33	chr11	124440622	.	C	T	2960.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.000e-03;DP=919;ExcessHet=0.0000;FS=2.393;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.37;ReadPosRankSum=2.93;SOR=0.883	GT:AD:DP:GQ:PL	0/1:95,111:206:99:2975,0,2628	20	0	1	0
chr11	130428225	130428225	-	GCA	exonic	ADAMTS8	.	nonframeshift insertion	ADAMTS8:NM_007037:exon1:c.61_62insTGC:p.L21_P22insL,	.	.	0	41	77	64	44	249	0.714286	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5952	8760.77	19	chr11	130428222	.	GGCA	G,GGCAGCA	8760.77	.	AC=21,6;AF=0.500,0.143;AN=42;BaseQRankSum=0.204;DP=554;ExcessHet=0.8717;FS=0.000;InbreedingCoeff=0.0667;MLEAC=21,6;MLEAF=0.500,0.143;MQ=60.00;MQRankSum=0.00;QD=28.54;ReadPosRankSum=0.132;SOR=0.702	GT:AD:DP:GQ:PL	1/2:0,12,7:19:99:720,293,257,432,0,424	3	7	5	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|1:43,30:73:99:0|1:4591261_G_C:401,0,621:4591261	3	0	18	0
chr12	4591262	4591262	T	C	exonic	DYRK4	.	nonsynonymous SNV	DYRK4:NM_003845:exon3:c.T82C:p.S28P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3	T	0.0	B	0.0	B	0.236	N	1.000	N	-0.805	N	-0.1	T	-1.084	T	0.068	T	0.059	0.995	9.062	-3.92	-0.512	-0.125	0.780	0.089	0.00440886597753	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	9.577e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.374	0.11406	T	0.313	0.19539	T	0.0	0.02946	B	0.0	0.01387	B	0.235795	0.03549	N	1.561320	1	0.08975	N	-0.805	0.01590	N	-0.1	0.64264	T	-0.27	0.11366	N	0.079	0.05414	-1.0842	0.06553	T	0.068	0.27743	T	10	0.039215803	0.02395	T	0.004409	0.10781	T	0.089	0.25827	0.325	0.30711	0.42526943336	0.42144	0.11389244541155054	0.11317	0.101335283325	0.11470	0.327304363251	0.14527	T	7.42E-4	0.00347	T	-0.283232	0.10329	T	-0.644619	0.09335	T	0.190787822008133	0.19891	T	0.451055	0.13062	T	0.044260852	0.07044	0.05666178	0.10162	0.044260852	0.07043	0.05666178	0.10161	-3.8	0.20805	T	.	.	0.055	0.00397	B	.;.;.	.;.;.	0.139343	0.05334	1.822	0.72541810839383536	0.10010	0.00255	0.01401	N	AEFDBI	0.036495	0.04872	N	-1.57976836352683	0.01369	0.0596469	-1.57847201873377	0.01787	0.08134935	5.90958891872362E-4	0.07390	0.553676	0.25195	0	0.588015	0.36545	0	0.618467	0.43123	0	0.542086	0.14980	0	.	.	4.34	-3.92	0.03880	-0.110000	0.10794	-0.393000	0.09462	-0.181000	0.10308	0.001000	0.13787	0.000000	0.08366	0.483000	0.28633	0.3313:0.3776:0.1218:0.1694	0.780	0.00973	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	0.1429	304.11	40	chr12	4591262	.	T	C	304.11	.	AC=6;AF=0.143;AN=42;BaseQRankSum=-3.075e+00;DP=1456;ExcessHet=1.7912;FS=131.276;InbreedingCoeff=-0.1677;MLEAC=6;MLEAF=0.143;MQ=60.00;MQRankSum=0.00;QD=0.62;ReadPosRankSum=1.08;SOR=10.656	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:55,21:76:55:0|1:4591261_G_C:55,0,1434:4591261	15	0	6	0
chr12	5635169	5635169	T	C	exonic	ANO2	.	nonsynonymous SNV	ANO2:NM_001364791:exon16:c.A1799G:p.K600R	.	.	435	1086	1	0	0	1	0.000460193	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.43	T	0.0	B	0.002	B	0.028	N	0.561	D	-0.67	N	-0.07	T	-1.020	T	0.045	T	0.15	0.896	8.640	4.06	1.024	0.130	11.653	0.098	0.00877749541479	0.0016	0.00219649	0.0007	0.0065	0.0003	0	0	0.0001	0.0013	0.0001	0.000608	94	154602	rs112073363	0.0003	0.0003	0.0003	0.0003	0.0075	0.0003	0.0002	0.0067	0.0064	0.0075	0.0004	0	0	0	0.0023	7.449e-05	0.0008	3.741e-05	0.0018	0.0018	0.0018	0.0018	0.0060	0.0016	0.0015	0.0054	0.0051	0.0060	0	0.0005	0	0	0	0.0068	0.0002	0.0009	0	0.068	0.35726	T	0.448	0.15157	T	.	.	.	.	.	.	0.028190	0.25640	N	0.466178	0.560984	0.32213	D	.	.	.	-0.1	0.64264	T	-1.12	0.28906	N	0.246	0.27910	-1.0198	0.23780	T	0.045	0.19152	T	10	0.0077706575	0.00177	T	0.008777	0.23172	T	0.098	0.28162	.	.	0.0401082797425	0.02173	0.46310132564659895	0.46229	0.0541873266677	0.05984	0.470216095448	0.34709	T	0.074863	0.35040	T	-0.494503	0.00614	T	-0.479509	0.24498	T	0.00932649370484882	0.00119	T	0.512749	0.22785	T	.	.	.	.	.	.	.	.	-3.206	0.12554	T	.	.	0.074	0.06710	B	.;.;.;.	.;.;.;.	2.440401	0.31407	18.73	0.95187178605611078	0.26364	0.30133	0.24003	N	AEFDBHI	0.175224	0.30238	N	-0.72066142126557	0.15441	0.7782281	-0.525613103721228	0.21458	1.160949	0.994804911296765	0.33809	0.460665	0.09802	0	0.59043	0.45803	0	0.602189	0.34648	0	0.636168	0.56350	0	.	.	5.2	4.06	0.46572	0.050000	0.14004	2.468000	0.32884	0.573000	0.29008	0.019000	0.19563	0.998000	0.33993	0.777000	0.36790	0.0:0.0:0.1582:0.8418	11.653	0.50559	946	0.12043	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1157.98	35	chr12	5635169	.	T	C	1157.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-9.330e-01;DP=814;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.73;ReadPosRankSum=1.44;SOR=0.734	GT:AD:DP:GQ:PL	0/1:71,48:119:99:1172,0,1915	20	0	1	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	1/2:0,9,47,0,0:56:99:2164,1811,1946,338,0,184,2172,1900,347,2239,2172,1900,347,2239,2239	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	1/2:0,9,47,0,0:56:99:2164,1811,1946,338,0,184,2172,1900,347,2239,2172,1900,347,2239,2239	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	1/2:0,9,47,0,0:56:99:2164,1811,1946,338,0,184,2172,1900,347,2239,2172,1900,347,2239,2239	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	1/2:0,9,47,0,0:56:99:2164,1811,1946,338,0,184,2172,1900,347,2239,2172,1900,347,2239,2239	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	3/3:0,0,0,62,0,0,0:62:99:.:.:2776,2776,2776,2776,2776,2776,189,189,189,0,2776,2776,2776,189,2776,2776,2776,2776,189,2776,2776,2776,2776,2776,189,2776,2776,2776	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	3/3:0,0,0,62,0,0,0:62:99:.:.:2776,2776,2776,2776,2776,2776,189,189,189,0,2776,2776,2776,189,2776,2776,2776,2776,189,2776,2776,2776,2776,2776,189,2776,2776,2776	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	3/3:0,0,0,62,0,0,0:62:99:.:.:2776,2776,2776,2776,2776,2776,189,189,189,0,2776,2776,2776,189,2776,2776,2776,2776,189,2776,2776,2776,2776,2776,189,2776,2776,2776	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	3/3:0,0,0,62,0,0,0:62:99:.:.:2776,2776,2776,2776,2776,2776,189,189,189,0,2776,2776,2776,189,2776,2776,2776,2776,189,2776,2776,2776,2776,2776,189,2776,2776,2776	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	3/3:0,0,0,62,0,0,0:62:99:.:.:2776,2776,2776,2776,2776,2776,189,189,189,0,2776,2776,2776,189,2776,2776,2776,2776,189,2776,2776,2776,2776,2776,189,2776,2776,2776	1	0	2	0
chr12	7201782	7201782	C	G	exonic	PEX5	.	nonsynonymous SNV	PEX5:NM_001374647:exon6:c.C583G:p.Q195E	Peroxisome biogenesis disorder 2A (Zellweger), Autosomal recessive;Peroxisome biogenesis disorder 2B, Autosomal recessive;Rhizomelic chondrodysplasia punctata, type 5, Autosomal recessive	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.76	T	0.055	B	0.036	B	0.000	D	0.993	D	1.04	L	-2.01	D	-0.421	T	0.443	T	0.383	1.502	10.97	5.21	2.593	2.494	13.986	0.264	0.0587695205325	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009	0.57480	D	0.052	0.49120	T	0.031	0.22733	B	0.013	0.22909	B	0.000306	0.45977	D	0.185361	0.992597	0.41689	D	1.39	0.34934	L	-2.2	0.87038	D	-0.7	0.21860	N	0.249	0.45237	-0.4210	0.71360	T	0.443	0.78039	T	10	0.22714177	0.39587	T	0.05877	0.67435	D	0.264	0.57741	0.354	0.35408	0.786066119495	0.78408	0.32758546421041723	0.32671	0.307891697751	0.33085	0.388164579868	0.23411	T	0.070753	0.56045	T	0.0706692	0.60931	D	-0.136265	0.60441	T	0.582267999649048	0.35706	D	0.938306	0.85427	D	0.124520406	0.29214	0.08392887	0.19269	0.124520406	0.29213	0.08392887	0.19269	-5.677	0.43578	T	.	.	0.087	0.31683	B	.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.	1.740586	0.22151	15.50	0.97403951573796188	0.33790	0.95614	0.65428	D	AEFDGBI	0.661768	0.63187	D	-0.272048718578449	0.30233	1.683767	-0.101037201342009	0.35350	2.044032	0.817829475186041	0.24470	0.719381	0.83141	0	0.724815	0.89359	0	0.723133	0.82415	0	0.714379	0.83352	0	.	.	5.21	5.21	0.72005	2.946000	0.48742	3.892000	0.40300	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.386000	0.26469	0.1883:0.8117:0.0:0.0	13.986	0.63849	.	.	.;.;.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	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	801.98	33	chr12	7201782	.	C	G	801.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.531e+00;DP=773;ExcessHet=0.0000;FS=1.718;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.81;ReadPosRankSum=1.72;SOR=0.706	GT:AD:DP:GQ:PL	0/1:53,38:91:99:816,0,1348	20	0	1	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	0/1:132,30,0:162:99:365,0,4131,761,4221,4982	4	3	11	0
chr12	11353347	11353347	T	0	exonic	PRB1	.	.	.	.	.	9	207	2	0	8	10	0.00480769	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	3832.93	201	chr12	11353347	.	T	C,*	3832.93	.	AC=2,3;AF=0.067,0.100;AN=30;BaseQRankSum=1.82;DP=4251;ExcessHet=0.0840;FS=5.948;InbreedingCoeff=0.3842;MLEAC=3,4;MLEAF=0.100,0.133;MQ=54.28;MQRankSum=2.23;QD=4.99;ReadPosRankSum=2.17;SOR=0.499	GT:AD:DP:GQ:PGT:PID:PL:PS	2/2:4,1,102:107:99:.:.:7299,2697,2546,601,233,0	11	0	2	6
chr12	11353413	11353413	G	0	exonic	PRB1	.	.	.	.	.	776	281	207	230	28	695	0.542718	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6944	47416.68	201	chr12	11353413	.	G	A,*	47416.68	.	AC=22,3;AF=0.611,0.083;AN=36;BaseQRankSum=1.23;DP=4494;ExcessHet=0.6840;FS=7.239;InbreedingCoeff=0.1429;MLEAC=25,3;MLEAF=0.694,0.083;MQ=49.32;MQRankSum=0.484;QD=21.62;ReadPosRankSum=0.236;SOR=1.326	GT:AD:DP:GQ:PGT:PID:PL:PS	2|2:1,0,273:275:99:1|1:11353398_AGGTGGGG_A:7212,7182,8447,811,1024,0:11353398	2	8	6	3
chr12	11353469	11353469	A	0	exonic	PRB1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.8214	21751.81	201	chr12	11353469	.	A	G,*	21751.81	.	AC=20,3;AF=0.714,0.107;AN=28;BaseQRankSum=1.20;DP=4073;ExcessHet=0.2102;FS=5.613;InbreedingCoeff=0.1459;MLEAC=26,4;MLEAF=0.929,0.143;MQ=51.75;MQRankSum=-5.705e+00;QD=18.93;ReadPosRankSum=-1.910e+00;SOR=1.241	GT:AD:DP:GQ:PGT:PID:PL:PS	2|2:1,0,273:275:99:1|1:11353398_AGGTGGGG_A:7212,7182,8447,811,1024,0:11353398	0	8	4	7
chr12	11353474	11353474	-	GGGACTTGTCTCCTTGTGGGGGTGGTCCTTGTGGCTTTCCTGGAGGTGGGGGACCTTGAGGTCTGTTGCCTCCTTGTTGGGGTGGTCCTTGTGGCTTTCCTGGAGGAGGTGGGGGACCTTGGGGCTGGTTACCTCCTTGTGGGGGTGGTCCTTGTGGCTTTCCTGGAGGAGATCGGGGACTTT	exonic	PRB1	.	nonframeshift insertion	PRB1:NM_001367912:exon7:c.1434_1435insAAAGTCCCCGATCTCCTCCAGGAAAGCCACAAGGACCACCCCCACAAGGAGGTAACCAGCCCCAAGGTCCCCCACCTCCTCCAGGAAAGCCACAAGGACCACCCCAACAAGGAGGCAACAGACCTCAAGGTCCCCCACCTCCAGGAAAGCCACAAGGACCACCCCCACAAGGAGACAAGTCCC:p.E479delinsKVPDLLQESHKDHPHKEVTSPKVPHLLQESHKDHPNKEATDLKVPHLQESHKDHPHKETSPE,	.	.	531	945	7	0	39	46	0.00369004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0036	0.0055	0.0042	0.0054	0.0017	0.0025	0	0.0074	.	.	.	.	0.0047	0.0049	0.0045	0.0050	0.0662	0.0046	0.0046	0.0612	0.0593	0.0040	0.0065	0.0131	0.0662	0.0167	0.0024	0.0033	0.0074	0.0029	0	8.638e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3571	16788.62	201	chr12	11353474	.	C	CGGGACTTGTCTCCTTGTGGGGGTGGTCCTTGTGGCTTTCCTGGAGGTGGGGGACCTTGAGGTCTGTTGCCTCCTTGTTGGGGTGGTCCTTGTGGCTTTCCTGGAGGAGGTGGGGGACCTTGGGGCTGGTTACCTCCTTGTGGGGGTGGTCCTTGTGGCTTTCCTGGAGGAGATCGGGGACTTT,*	16788.62	.	AC=7,3;AF=0.250,0.107;AN=28;BaseQRankSum=1.66;DP=3976;ExcessHet=0.0004;FS=2.665;InbreedingCoeff=0.5485;MLEAC=9,4;MLEAF=0.321,0.143;MQ=53.86;MQRankSum=-5.862e+00;QD=19.17;ReadPosRankSum=-4.300e-01;SOR=0.522	GT:AD:DP:GQ:PGT:PID:PL:PS	2|2:1,0,273:275:99:1|1:11353398_AGGTGGGG_A:7212,7182,8447,811,1024,0:11353398	8	3	1	7
chr12	11353474	11353474	C	0	exonic	PRB1	.	.	.	.	.	531	945	7	0	39	46	0.00369004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3571	16788.62	201	chr12	11353474	.	C	CGGGACTTGTCTCCTTGTGGGGGTGGTCCTTGTGGCTTTCCTGGAGGTGGGGGACCTTGAGGTCTGTTGCCTCCTTGTTGGGGTGGTCCTTGTGGCTTTCCTGGAGGAGGTGGGGGACCTTGGGGCTGGTTACCTCCTTGTGGGGGTGGTCCTTGTGGCTTTCCTGGAGGAGATCGGGGACTTT,*	16788.62	.	AC=7,3;AF=0.250,0.107;AN=28;BaseQRankSum=1.66;DP=3976;ExcessHet=0.0004;FS=2.665;InbreedingCoeff=0.5485;MLEAC=9,4;MLEAF=0.321,0.143;MQ=53.86;MQRankSum=-5.862e+00;QD=19.17;ReadPosRankSum=-4.300e-01;SOR=0.522	GT:AD:DP:GQ:PGT:PID:PL:PS	2|2:1,0,273:275:99:1|1:11353398_AGGTGGGG_A:7212,7182,8447,811,1024,0:11353398	8	3	1	7
chr12	21766064	21766064	A	T	exonic	KCNJ8	.	nonsynonymous SNV	KCNJ8:NM_004982:exon3:c.T934A:p.S312T,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.998	D	0.993	D	0.000	D	1.000	D	3.83	H	-4.01	D	1.102	D	0.957	D	0.87	4.486	24.0	5.35	2.244	9.123	15.505	0.956	0.713043984367	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	0.998	0.73220	D	0.993	0.81110	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.59	0.93643	H	-4.01	0.96370	D	-2.8	0.59226	D	0.84	0.83576	1.102	0.99732	D	0.957	0.98606	D	10	0.9934076	0.99870	D	0.713044	0.97668	D	0.956	0.99253	0.946	0.99325	0.949365678283	0.94883	0.9277983974537026	0.92757	2.08941836619	0.94716	0.801183104515	0.82142	T	0.952471	0.99325	D	0.524894	0.95030	D	0.516197	0.94957	D	0.996925294399261	0.90376	D	0.998684	0.99283	D	0.91429996	0.92699	0.8775511	0.93391	0.91429996	0.92700	0.8775511	0.93391	-9.904	0.73334	D	0.7793477278348038	0.85944	.	.	.	.	.	4.648534	0.74080	26.1	0.99585033854922789	0.73277	0.98849	0.87668	D	AEFGBI	0.978584	0.99774	D	0.999667008822011	0.95734	13.91085	0.913944439940961	0.96151	14.36079	0.999997216090658	0.74766	0.638212	0.43195	0	0.573888	0.26702	0	0.653264	0.51672	0	0.542086	0.14980	0	.	.	5.35	5.35	0.76297	9.309000	0.95312	11.251000	0.90746	0.731000	0.85647	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	1.0:0.0:0.0:0.0	15.505	0.75461	746	0.52331	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	19403.08	34	chr12	21766064	.	A	T	19403.08	.	AC=2;AF=0.048;AN=42;DP=1323;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;QD=32.07;SOR=0.801	GT:AD:DP:GQ:PL	1/1:0,605:605:99:19431,1814,0	20	1	0	0
chr12	30630939	30630939	T	C	exonic	IPO8	.	nonsynonymous SNV	IPO8:NM_001190995:exon21:c.A2420G:p.E807G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.726	P	0.557	P	0.005	N	0.965	D	1.965	M	1.59	T	-0.682	T	0.190	T	0.378	4.301	22.5	4.86	1.808	5.065	13.074	0.141	0.0111789308092	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.002	0.79402	D	0.586	0.38931	P	0.432	0.45448	B	0.004570	0.33608	N	0.130592	0.96549	0.38471	D	2.49	0.72568	M	1.59	0.53516	T	-4.55	0.78553	D	0.379	0.42345	-0.6819	0.61284	T	0.190	0.54093	T	10	0.30267453	0.47803	T	0.011179	0.28538	T	0.141	0.37795	0.514	0.61307	0.420780279148	0.41693	0.4299181865596742	0.42908	0.463953477707	0.45884	0.644040763378	0.59138	T	0.334842	0.70453	T	-0.0262857	0.47954	T	-0.275534	0.47259	T	0.984024167060852	0.75478	D	0.69563	0.30512	T	0.35101956	0.57146	0.42184418	0.66104	0.35101956	0.57146	0.42184418	0.66104	-11.933	0.84522	D	.	.	0.139	0.51985	B	.;.	.;.	4.046643	0.59952	24.2	0.99867544131296671	0.94547	0.95740	0.65952	D	AEFDBIJ	0.556805	0.56669	D	0.375105987109407	0.60075	4.192696	0.411266029817649	0.62264	4.439127	0.999991236806771	0.74766	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	4.86	4.86	0.62624	5.077000	0.64249	7.174000	0.57733	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:0.0:1.0	13.074	0.58488	964	0.07719	.;.	.	.	.	.	.	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	2520.08	36	chr12	30630939	.	T	C	2520.08	.	AC=2;AF=0.048;AN=42;DP=820;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;QD=30.36;SOR=0.766	GT:AD:DP:GQ:PL	1/1:0,83:83:99:2548,249,0	20	1	0	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	0/1:35,16,3:54:99:.:.:312,0,952,160,976,1167	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	0/1:35,16,3:54:99:.:.:312,0,952,160,976,1167	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	0/1:35,20:55:99:.:.:343,0,935	10	0	6	5
chr12	40436621	40436621	G	A	exonic	MUC19	.	unknown	UNKNOWN,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	.	.	.	.	.	.	1.000	D	4.18	H	.	.	0.350	D	0.467	T	0.576	4.486	24.0	5.95	2.827	8.360	19.174	0.696	.	.	0.00599042	0.0013	0.0174	0	0	0	0.0004	0	0.0002	0.0004657	72	154602	rs76506766	0.0007	0.0006	0.0008	0.0007	0.0157	0.0007	0.0007	0.0144	0.0138	0.0157	0.0020	0.0001	0	0.0001	0.0055	0.0003	0.0017	0.0001	0.0048	0.0048	0.0050	0.0047	0.0151	0.0046	0.0044	0.0141	0.0137	0.0151	0	0.0052	0	0	9.43e-05	0	0.0003	0.0033	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	2560.08	33	chr12	40436621	.	G	A	2560.08	.	AC=2;AF=0.048;AN=42;DP=777;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;QD=30.48;SOR=1.206	GT:AD:DP:GQ:PL	1/1:0,84:84:99:2588,252,0	20	1	0	0
chr12	40443455	40443459	TGGAA	-	exonic	MUC19	.	unknown	UNKNOWN,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1198970558	1.483e-05	1.163e-05	1.197e-05	1.78e-05	0.0009	9.03e-06	7.39e-06	0.0003	0.0002	0.0003	0	0	0	0	0.0009	1.088e-06	4.832e-05	2.677e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	5357.05	34	chr12	40443454	.	CTGGAA	C	5357.05	.	AC=2;AF=0.048;AN=42;DP=920;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;QD=26.79;SOR=1.857	GT:AD:DP:GQ:PL	1/1:0,121:121:99:5385,365,0	20	1	0	0
chr12	40483097	40483127	AAGTGACAGGGACAACTAGACTATCAGCTGG	0	exonic	MUC19	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1389	53348.35	934	chr12	40483097	.	AAGTGACAGGGACAACTAGACTATCAGCTGG	*,A	53348.35	.	AC=1,4;AF=0.028,0.111;AN=36;BaseQRankSum=3.48;DP=17275;ExcessHet=0.0409;FS=0.000;InbreedingCoeff=0.1809;MLEAC=1,4;MLEAF=0.028,0.111;MQ=59.58;MQRankSum=0.00;QD=15.51;ReadPosRankSum=0.406;SOR=0.695	GT:AD:DP:GQ:PGT:PID:PL:PS	2/2:0,0,714:714:99:.:.:31494,31494,31494,2191,2191,0	14	0	1	3
chr12	40567679	40567679	G	A	exonic	MUC19	.	unknown	UNKNOWN,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.000	D	.	.	.	.	-0.923	T	0.191	T	.	1.107	9.515	2.16	0.362	-0.074	7.364	0.001	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.185e-06	1.59e-06	0	5.631e-06	1.702e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.702e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	1908.08	33	chr12	40567679	.	G	A	1908.08	.	AC=2;AF=0.048;AN=42;DP=750;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;QD=29.81;SOR=0.892	GT:AD:DP:GQ:PL	1/1:0,64:64:99:1936,192,0	20	1	0	0
chr12	45951697	45951697	G	C	exonic	SCAF11	.	nonsynonymous SNV	SCAF11:NM_004719:exon4:c.C250G:p.P84A,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.24	T	0.963	D	0.901	P	0.000	U	1.000	D	1.53	L	1.02	T	-0.337	T	0.344	T	0.388	3.971	20.3	5.36	2.490	5.208	18.688	0.248	0.028721123035	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1179369829	6.945e-07	6.84e-07	0	1.397e-06	9.106e-07	0	0	.	.	0	0	0	0	0	0	9.106e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	0.49613	D	0.024	0.56640	D	0.963	0.55692	D	0.901	0.63994	P	0.000433	0.44522	U	0.000000	0.544307	0.32080	D	2.425	0.70256	M	-0.2	0.66113	T	-2.52	0.54702	D	0.644	0.65587	-0.3366	0.73942	T	0.344	0.70964	T	10	0.3015812	0.47699	T	0.028721	0.51350	D	0.248	0.55615	0.435	0.48664	0.200294437569	0.19612	0.3270231377891425	0.32615	0.276772349952	0.30148	0.444420695305	0.31181	T	0.116806	0.43642	T	0.0208464	0.54496	T	-0.207832	0.53903	T	0.909056007862091	0.56383	D	0.850615	0.62654	D	0.107006624	0.25304	0.13772865	0.32912	0.107006624	0.25303	0.13772865	0.32911	-5.553	0.42361	T	.	.	0.173	0.37895	B	.;.	.;.	4.242243	0.64330	24.7	0.99535043783469823	0.70150	0.95376	0.64478	D	AEFBI	0.394724	0.47187	N	0.607475903463174	0.73647	6.000368	0.624945117206587	0.76756	6.550077	0.998714592417152	0.37518	0.732398	0.92422	0	0.743671	0.97443	0	0.658983	0.55881	0	0.613276	0.41899	0	.	.	5.36	5.36	0.76624	5.493000	0.66618	8.679000	0.78037	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:1.0:0.0	18.688	0.91532	851	0.35303	.;.	.	.	.	.	.	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	299.98	33	chr12	45951697	.	G	C	299.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.139;DP=697;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.11;ReadPosRankSum=0.480;SOR=0.645	GT:AD:DP:GQ:PL	0/1:22,15:37:99:314,0,514	20	0	1	0
chr12	47235847	47235847	G	A	exonic	PCED1B	.	nonsynonymous SNV	PCED1B:NM_001281429:exon3:c.G784A:p.V262M	.	.	433	1085	4	0	0	4	0.00183993	.	.	2270837	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.12	T	0.987	D	0.502	P	0.971	U	1.000	N	0.895	L	1.44	T	-1.054	T	0.052	T	0.29	2.088	12.94	-0.273	-0.053	0.152	1.724	0.086	0.00825912795121	.	.	0	0	0	0	0	0	0	0	3.84e-05	1	26028	rs780152953	8.298e-05	8.551e-05	8.497e-05	8.094e-05	0.0084	7.06e-05	6.6e-05	0.0065	0.0058	3.091e-05	0.0003	0	0	0	0.0084	4.486e-05	0.0001	2.43e-05	9.198e-05	9.187e-05	0.0001	8.065e-05	0.0004	5.527e-05	4.364e-05	0.0002	0.0001	2.408e-05	0	0.0004	0	0	0	0.0034	5.881e-05	0.0009	0	0.064	0.36509	T	0.232	0.25135	T	0.987	0.61912	D	0.502	0.47702	P	0.970756	0.07776	U	1.019440	1	0.08975	N	1.795	0.47270	L	1.44	0.32722	T	-1.02	0.29933	N	0.227	0.25499	-1.0540	0.13305	T	0.052	0.22076	T	10	0.10412532	0.19179	T	0.008259	0.21878	T	0.086	0.25016	.	.	0.300110245524	0.29617	0.23433895302625782	0.23348	0.803344644737	0.66354	0.465712577105	0.34093	T	0.037637	0.24548	T	-0.394647	0.02509	T	-0.53036	0.19251	T	0.147927775979042	0.16938	T	0.381962	0.09853	T	0.04193176	0.06268	0.046587344	0.06527	0.04193176	0.06267	0.046587344	0.06526	-4.909	0.35836	T	.	.	0.138	0.40586	B	.;.;.	.;.;.	1.560589	0.19993	14.54	0.99236103890295091	0.56373	0.03144	0.08103	N	AEFDBHI	0.046547	0.07742	N	-0.5715948964393	0.19811	1.039816	-0.763558132329094	0.15390	0.8091518	0.998147090269005	0.36487	0.615465	0.37627	0	0.588015	0.36545	0	0.658983	0.55881	0	0.567892	0.33627	0	.	.	4.04	-0.273	0.12276	0.415000	0.20901	-0.494000	0.08842	0.586000	0.30580	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.1094:0.1987:0.3228:0.3692	1.724	0.02742	774	0.48577	.;.;.	.	.	.	.	.	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	1799.98	46	chr12	47235847	.	G	A	1799.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.29;DP=887;ExcessHet=0.0000;FS=6.977;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.13;ReadPosRankSum=-1.300e+00;SOR=0.917	GT:AD:DP:GQ:PL	0/1:53,66:119:99:1814,0,1368	20	0	1	0
chr12	50402772	50402772	A	T	exonic	LARP4	.	startloss	LARP4:NM_001352306:exon2:c.A1T:p.M1?,	.	.	435	1074	13	0	0	13	0.00601573	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	.	.	.	.	.	.	1.000	N	.	.	.	.	-0.976	T	0.064	T	0.213	1.243	10.05	-2.76	-0.623	0.008	0.302	0.117	.	.	0.00239617	0.0050	0	0	0	.	0.0055	0	0.0052	0.0011837	183	154602	rs368134552	0.0051	0.0025	0.0050	0.0053	0.0063	0.0049	0.0048	0.0060	0.0058	0.0008	0.0008	0.0039	0	0.0037	0.0050	0.0063	0.0068	0.0056	0.0039	0.0039	0.0043	0.0035	0.0069	0.0037	0.0036	0.0064	0.0062	0.0013	0	0.0019	0.0029	0	0.0013	0.0068	0.0069	0.0043	0.0023	0.0	0.91255	D	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	0.07	0.06138	N	.	.	-0.9763	0.35838	T	0.064	0.26349	T	5	0.101192236	0.18473	T	.	.	.	0.117	0.32689	0.996	0.99957	0.082315109003	0.07666	.	.	.	.	.	.	.	.	.	.	-0.488973	0.00658	T	-0.465758	0.25976	T	0.00916332872932572	0.00116	T	0.9	0.65058	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.580947	0.09496	6.272	0.51423755933573578	0.04560	0.06729	0.12751	N	AEFDBCI	0.012963	0.00157	N	-0.823687933351643	0.12706	0.6210789	-1.03307458598087	0.09063	0.4488527	0.999979690762501	0.50053	0.608746	0.35421	0	0.405561	0.06353	1	0.731467	0.93227	0	0.665054	0.64577	0	.	.	2.89	-2.76	0.05547	0.002000	0.12962	0.039000	0.13841	-0.058000	0.16670	0.000000	0.06391	0.000000	0.08366	0.325000	0.25087	0.3485:0.201:0.2541:0.1963	0.302	0.00255	327	0.86637	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1076.98	33	chr12	50402772	.	A	T	1076.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.412;DP=774;ExcessHet=0.0000;FS=2.828;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.82;ReadPosRankSum=-8.910e-01;SOR=0.627	GT:AD:DP:GQ:PL	0/1:40,44:84:99:1091,0,967	20	0	1	0
chr12	51292325	51292325	C	G	exonic	BIN2	.	nonsynonymous SNV	BIN2:NM_001364781:exon8:c.G619C:p.V207L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.42	T	0.996	D	0.987	D	0.001	N	0.785	N	1.1	L	-0.16	T	0.581	D	0.874	D	0.442	2.877	15.58	4.67	2.882	3.425	13.390	0.334	0.109322549673	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.007	0.59928	D	0.33	0.18560	T	.	.	.	.	.	.	0.001455	0.38980	N	0.171229	0.785046	0.34315	D	.	.	.	-0.16	0.65378	T	-1.0	0.26422	N	0.301	0.34012	0.581	0.91643	D	0.874	0.95803	D	10	0.35797223	0.52500	T	0.109323	0.78624	D	0.334	0.65620	.	.	0.788632614093	0.78667	.	.	.	.	0.609907567501	0.54302	T	0.017497	0.14263	T	-0.00090679	0.51528	T	-0.239079	0.50888	T	0.837968468666077	0.49162	D	0.860814	0.55431	D	.	.	.	.	.	.	.	.	-7.214	0.55582	T	.	.	0.245	0.47965	B	.;.	.;.	4.997501	0.82893	27.9	0.99672532336899022	0.78717	0.87471	0.47021	D	AEFDGBHCI	0.606464	0.59680	D	0.411121754461991	0.62034	4.412819	0.39213273943583	0.61080	4.303152	0.999999999963225	0.74766	0.631981	0.41245	0	0.779548	0.99637	0	0.615948	0.41167	0	0.584449	0.35598	0	.	.	4.67	4.67	0.58089	3.803000	0.55264	5.460000	0.48669	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.583000	0.30967	0.0:1.0:0.0:0.0	13.390	0.60261	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	0.02381	1329.99	57	chr12	51292325	.	C	G	1329.99	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.268e+00;DP=1012;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0252;MLEAC=1;MLEAF=0.024;MQ=59.95;MQRankSum=0.00;QD=11.77;ReadPosRankSum=-1.124e+00;SOR=0.759	GT:AD:DP:GQ:PL	0/1:59,54:113:99:1344,0,1557	20	0	1	0
chr12	51821816	51821816	C	G	exonic	FIGNL2	.	nonsynonymous SNV	FIGNL2:NM_001013690:exon2:c.G598C:p.A200P	.	.	396	1122	4	0	0	4	0.00177936	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000199681	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs562621326	0.0002	0.0002	0.0002	0.0002	0.0025	0.0002	0.0001	0.0020	0.0018	0	0.0001	0	0	0	0.0020	0.0001	0.0002	0.0025	0.0002	0.0002	0.0001	0.0002	0.0021	0.0001	9.284e-05	0.0011	0.0009	2.413e-05	0	6.576e-05	0	0.0002	9.664e-05	0	0.0001	0	0.0021	.	.	.	.	.	.	0.145	0.27759	B	0.125	0.32635	B	.	.	.	.	.	.	.	0.09	0.08384	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.070072025	0.10143	T	.	.	.	.	.	.	.	.	.	0.4935402142987791	0.49275	.	.	0.900842189789	0.96533	D	0.024964	0.18762	T	.	.	.	.	.	.	.	.	.	0.736326	0.35288	T	0.17477985	0.38300	0.50952536	0.71655	0.17477985	0.38300	0.50952536	0.71656	-3.587	0.17669	T	.	.	0.086	0.11124	B	.;.	.;.	1.843283	0.23417	16.01	0.89040312938114563	0.18461	0.09501	0.15243	N	AEFDBCI	.	.	.	.	.	.	.	.	.	0.99999900208495	0.74766	0.206829	0.04106	0	0.059962	0.00310	0	0.209056	0.04548	0	0.062806	0.01542	0	0.856338	0.52334	3.63	2.72	0.31179	-0.387000	0.07419	2.527000	0.33149	0.485000	0.22221	0.000000	0.06391	0.861000	0.27489	0.038000	0.14061	0.0:0.9019:0.0:0.0981	11.564	0.50048	477	0.77662	.;.	.	.	.	.	.	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	125.08	17	chr12	51821816	.	C	G	125.08	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.205;DP=283;ExcessHet=0.0000;FS=2.463;InbreedingCoeff=-0.0314;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.37;ReadPosRankSum=-1.626e+00;SOR=0.760	GT:AD:DP:GQ:PL	0/1:6,5:11:99:139,0,151	20	0	1	0
chr12	52790295	52790295	C	A	exonic	KRT3	.	nonsynonymous SNV	KRT3:NM_057088:exon9:c.G1634T:p.G545V,	Meesmann corneal dystrophy, Autosomal dominant	.	0	1516	5	1	0	7	0.00230339	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.52	T	0.83	P	0.146	B	0.004	N	1.000	N	1.89	L	-0.98	T	0.124	D	0.774	D	0.468	0.273	5.478	2.43	1.334	2.443	8.870	0.311	0.0542774985293	.	0.000399361	0.0013	0.0005	0	0	0	0.0007	0	0.0026	0.0002652	41	154602	rs547164798	0.0002	0.0002	0.0002	0.0002	0.0016	0.0002	0.0002	0.0014	0.0013	3.112e-05	0.0002	0	0	0	0.0014	0.0001	0.0003	0.0016	0.0001	0.0001	7.71e-05	0.0001	0.0010	6.507e-05	5.319e-05	0.0004	0.0003	0	0	0	0	0	0	0.0034	0.0001	0.0005	0.0010	0.243	0.17526	T	0.014	0.62352	D	0.83	0.46087	P	0.146	0.33945	B	0.004389	0.33795	N	0.000000	0.999928	0.19486	N	2.08	0.57402	M	-4.31	0.97195	D	-1.87	0.43717	N	0.444	0.48227	0.124	0.84606	D	0.774	0.92328	D	10	0.015193641	0.00319	T	0.054277	0.65794	D	0.311	0.63269	.	.	0.909624181124	0.90872	0.599637001039961	0.59894	0.165698584947	0.18694	0.60680437088	0.53865	T	0.154854	0.49632	T	-0.162609	0.26359	T	-0.0253679	0.68675	D	0.0340950197033788	0.02653	T	0.164184	0.01497	T	0.08927726	0.20853	0.10358719	0.24857	0.08927726	0.20853	0.10358719	0.24856	-8.626	0.65261	D	.	.	0.114	0.22680	B	.	.	1.406283	0.18209	13.61	0.5241809149134703	0.04744	0.25255	0.22644	N	ALL	0.063147	0.12182	N	-0.508284279542638	0.21811	1.160266	-0.671273772501535	0.17681	0.941207	0.999999998657307	0.74766	0.517182	0.21443	0	0.610034	0.51514	0	0.478664	0.07449	1	0.530356	0.10902	0	.	.	2.43	2.43	0.28797	3.471000	0.52871	.	.	0.511000	0.23309	0.610000	0.27830	0.016000	0.20520	0.011000	0.09372	0.0:1.0:0.0:0.0	8.870	0.34467	572	0.70300	.	.	.	.	.	.	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	883.98	42	chr12	52790295	.	C	A	883.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.695;DP=844;ExcessHet=0.0000;FS=4.159;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.28;ReadPosRankSum=-5.280e-01;SOR=0.854	GT:AD:DP:GQ:PL	0/1:49,37:86:99:898,0,1215	20	0	1	0
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|1:71,14,0:85:99:0|1:52949249_G_A:374,0,2939,588,2981,3569:52949249	0	0	20	0
chr12	52951595	52951595	G	A	exonic	KRT18	.	nonsynonymous SNV	KRT18:NM_000224:exon4:c.G772A:p.E258K	Cirrhosis, cryptogenic, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	3272969	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.52	T	0.027	B	0.013	B	0.194	N	0.875	N	0.39	N	-2.49	D	-0.600	T	0.439	T	0.173	0.755	8.001	3.59	2.311	0.857	13.487	0.211	0.0406890940888	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1347876514	9.577e-06	9.577e-06	4.084e-06	1.513e-05	2.987e-05	5.56e-06	4.35e-06	4.55e-06	3.32e-06	2.987e-05	2.236e-05	0	0	0	0	8.993e-06	3.312e-05	0	6.577e-06	6.569e-06	0	1.347e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	1.0	0.00964	T	0.94	0.03030	T	0.007	0.19556	B	0.013	0.16460	B	0.193793	0.16776	N	0.513353	0.874503	0.28153	N	0.38	0.12130	N	-2.49	0.89145	D	0.69	0.02195	N	0.193	0.23506	-0.5999	0.64822	T	0.439	0.77765	T	10	0.09586775	0.17154	T	0.040689	0.59514	D	0.211	0.50185	.	.	0.564807590308	0.56144	0.33711777426591916	0.33624	0.609901705907	0.55697	0.367310762405	0.20445	T	0.321506	0.69260	T	-0.0969311	0.36933	T	-0.294146	0.45341	T	0.285273253917694	0.24392	T	0.725627	0.33984	T	0.15977314	0.35872	0.13554487	0.32450	0.15977314	0.35872	0.13554487	0.32449	-8.963	0.67458	D	0.10965201983919194	0.09178	0.206	0.43227	B	.;.;.	.;.;.	2.327061	0.29806	18.24	0.90549147926805984	0.19804	0.30971	0.24219	N	AEFBHCI	0.812927	0.73553	D	-0.592304290303385	0.19177	1.00163	-0.478043993983517	0.22760	1.237794	0.999999999490694	0.74766	0.722319	0.85440	0	0.588764	0.42986	0	0.698795	0.65105	0	0.735409	0.98432	0	.	.	3.59	3.59	0.40253	0.872000	0.27688	.	.	0.596000	0.33519	0.024000	0.20007	0.999000	0.35428	0.971000	0.54645	0.0:0.0:1.0:0.0	13.487	0.60826	764	0.49969	Intermediate filament, rod domain|Intermediate filament, rod domain|Intermediate filament, rod domain;Intermediate filament, rod domain|Intermediate filament, rod domain|Intermediate filament, rod domain;Intermediate filament, rod domain|Intermediate filament, rod domain|Intermediate filament, rod domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.25	145.98	43	chr12	52951595	.	G	A	145.98	.	AC=4;AF=0.250;AN=16;BaseQRankSum=-1.195e+00;DP=797;ExcessHet=0.7148;FS=135.113;InbreedingCoeff=-0.3042;MLEAC=5;MLEAF=0.313;MQ=60.00;MQRankSum=0.00;QD=0.81;ReadPosRankSum=0.495;SOR=7.111	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:32,8:40:64:0|1:52951595_G_A:64,0,1102:52951595	4	0	4	13
chr12	54363394	54363394	G	A	exonic	GPR84	.	nonsynonymous SNV	GPR84:NM_020370:exon2:c.C458T:p.A153V,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.57	T	1.0	D	0.991	D	0.000	D	1.000	D	0.89	L	-0.52	T	-0.552	T	0.368	T	0.759	4.080	21.0	5.02	2.496	2.102	16.201	0.403	0.0237397125168	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1345501624	2.755e-06	2.742e-06	1.372e-06	4.151e-06	3.627e-06	6.5e-07	4.4e-07	8.5e-07	5.7e-07	0	0	0	0	0	0	3.627e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.029	0.45756	D	0.011	0.64786	D	1.0	0.90584	D	0.991	0.79672	D	0.000478	0.44119	D	0.088981	0.999998	0.58761	D	1.465	0.36909	L	-0.52	0.70717	T	0.23	0.04613	N	0.196	0.21580	-0.5516	0.66726	T	0.368	0.72788	T	10	0.3502603	0.51901	T	0.02374	0.46713	T	0.403	0.71636	0.571	0.69431	0.809007091605	0.80721	0.2760080514280935	0.27513	0.162976829088	0.18394	0.490764260292	0.37544	T	0.005184	0.04625	T	0.118655	0.66237	D	-0.0673364	0.65815	T	0.74129194021225	0.42806	D	0.725127	0.33902	T	0.11525833	0.27201	0.15893412	0.37092	0.11525833	0.27201	0.15893412	0.37091	-4.201	0.26766	T	.	.	0.081	0.08224	B	.;.	.;.	3.791423	0.54572	23.5	0.99915949351705269	0.98379	0.88390	0.48296	D	AEFBI	0.518746	0.54431	D	0.36141034936137	0.59345	4.113099	0.384589246084373	0.60614	4.250998	0.999999998215978	0.74766	0.497415	0.19182	0	0.541556	0.11502	0	0.59043	0.30614	0	0.542086	0.14980	0	.	.	5.02	5.02	0.66742	1.850000	0.38968	5.121000	0.47587	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.822000	0.38733	0.0:0.0:1.0:0.0	16.201	0.81895	686	0.59327	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.3125	972.57	59	chr12	54363394	.	G	A	972.57	.	AC=10;AF=0.313;AN=32;BaseQRankSum=-3.390e+00;DP=1918;ExcessHet=6.1002;FS=237.561;InbreedingCoeff=-0.4326;MLEAC=12;MLEAF=0.375;MQ=60.00;MQRankSum=0.00;QD=0.94;ReadPosRankSum=0.851;SOR=11.822	GT:AD:DP:GQ:PL	0/1:76,33:109:94:94,0,1739	6	0	10	5
chr12	55427175	55427175	-	A	exonic	OR6C76	.	frameshift insertion	OR6C76:NM_001005183:exon1:c.922dupA:p.H312Tfs*2,	.	.	20	137	43	12	14	81	0.196481	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2381	3673.16	49	chr12	55427174	.	CA	C,CAA	3673.16	.	AC=9,1;AF=0.214,0.024;AN=42;BaseQRankSum=0.114;DP=906;ExcessHet=6.1002;FS=0.000;InbreedingCoeff=-0.3243;MLEAC=9,1;MLEAF=0.214,0.024;MQ=60.00;MQRankSum=0.00;QD=9.47;ReadPosRankSum=0.243;SOR=0.727	GT:AD:DP:GQ:PL	0/1:16,16,0:32:99:348,0,335,396,383,779	11	0	9	0
chr12	55837963	55837963	T	G	exonic	MMP19	.	nonsynonymous SNV	MMP19:NM_001272101:exon6:c.A800C:p.D267A	Cavitary optic disc anomalies, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.999	D	0.952	D	0.000	D	1.000	D	1.87	L	3.1	T	-1.191	T	0.059	T	0.901	3.428	17.59	5.94	2.279	5.685	14.350	0.294	0.0360963489804	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.032	0.44694	D	0.014	0.62352	D	0.99	0.63424	D	0.836	0.59919	P	0.000000	0.84330	D	0.000000	0.999998	0.58761	D	.	.	.	3.1	0.08283	T	-3.05	0.62976	D	0.726	0.72746	-1.1909	0.00232	T	0.059	0.24908	T	10	0.8357687	0.82733	D	0.036096	0.56772	D	0.375	0.69358	0.637	0.77361	0.806245303446	0.80443	0.9001298553465752	0.89984	0.529680156519	0.50527	0.551856517792	0.46120	T	0.389097	0.74961	T	-0.166462	0.25773	T	-0.476888	0.24777	T	0.971916437149048	0.69498	D	0.80432	0.45191	T	0.75178605	0.80972	0.73794025	0.84511	0.75178605	0.80973	0.73794025	0.84512	-6.891	0.53233	T	.	.	0.194	0.42763	B	.;.	.;.	5.077342	0.84710	28.4	0.99357074266729006	0.60820	0.97058	0.72445	D	AEFDBI	0.922648	0.89794	D	0.688042151795739	0.78850	6.955137	0.69867077457163	0.82276	7.727517	0.999996354203375	0.74766	0.660377	0.49826	0	0.547309	0.14657	0	0.696353	0.63694	0	0.567892	0.33627	0	.	.	5.94	5.94	0.96165	4.717000	0.61614	.	.	0.651000	0.53179	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:0.0:0.0:1.0	14.350	0.66255	697	0.58201	Hemopexin-like domain;Hemopexin-like 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	719.98	41	chr12	55837963	.	T	G	719.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.62;DP=785;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.59;ReadPosRankSum=-6.390e-01;SOR=0.742	GT:AD:DP:GQ:PL	0/1:39,29:68:99:734,0,937	20	0	1	0
chr12	57470641	57470641	G	T	exonic	GLI1	.	nonsynonymous SNV	GLI1:NM_001160045:exon10:c.G1517T:p.G506V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.982	D	0.006	N	1.000	D	1.585	L	2.46	T	-1.054	T	0.096	T	0.726	3.265	16.96	4.39	2.436	3.107	16.266	0.184	0.0332047134588	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.842e-07	6.841e-07	0	1.375e-06	0.0002	0	0	.	.	0	0	0	0	0	0.0002	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.013	0.63109	D	1.0	0.90584	D	0.982	0.75477	D	0.005878	0.32444	N	0.143240	1	0.81001	D	2.24	0.63355	M	2.46	0.15376	T	-1.58	0.38151	N	0.597	0.70790	-1.0538	0.13359	T	0.096	0.36107	T	10	0.41008478	0.56164	T	0.033205	0.54819	D	0.184	0.45763	0.358	0.36060	0.761260364834	0.75908	0.5046328101010428	0.50385	0.791260976505	0.65798	0.446223497391	0.31428	T	0.455937	0.79490	T	0.0188324	0.54224	T	-0.210725	0.53627	T	0.952138006687164	0.63721	D	0.838916	0.51702	T	0.38305467	0.59537	0.43017244	0.66676	0.38305467	0.59537	0.43017244	0.66676	-4.868	0.35373	T	.	.	0.369	0.57787	A	.;.;.;.	.;.;.;.	3.680665	0.52392	23.2	0.9973499383439981	0.83047	0.88651	0.48680	D	AEFDBHCI	0.785919	0.71616	D	0.51059804873595	0.67715	5.118769	0.466407082320571	0.65777	4.866875	0.999999991191862	0.74766	0.744818	0.98587	0	0.379588	0.06130	0	0.732433	0.93434	0	0.530356	0.10902	0	.	.	4.39	4.39	0.52211	0.971000	0.28993	9.666000	0.81207	0.618000	0.50648	0.610000	0.27830	1.000000	0.68203	0.999000	0.91618	0.0:0.0:1.0:0.0	16.266	0.82404	306	0.87689	.;.;.;.	.	.	.	.	.	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	1673.98	34	chr12	57470641	.	G	T	1673.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.311;DP=813;ExcessHet=0.0000;FS=0.771;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.74;ReadPosRankSum=0.155;SOR=0.837	GT:AD:DP:GQ:PL	0/1:40,60:100:99:1688,0,1025	20	0	1	0
chr12	57477464	57477464	C	T	exonic	ARHGAP9	.	nonsynonymous SNV	ARHGAP9:NM_001080156:exon2:c.G199A:p.E67K	.	.	405	1116	0	1	0	2	0.000895255	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.45	T	0.814	P	0.122	B	0.976	N	0.999	N	1.5	L	3.17	T	-1.063	T	0.073	T	0.22	0.207	5.116	2.39	0.955	1.156	8.648	0.037	0.00596829974901	0.0002	0.000399361	0.0003	0.0006	0.0004	0	0	0.0003	0.0011	0	0.0002846	44	154602	rs139873901	0.0003	0.0003	0.0003	0.0003	0.0007	0.0003	0.0002	0.0005	0.0004	0.0007	0.0004	0.0001	5.038e-05	1.872e-05	0.0003	0.0003	0.0004	0	0.0003	0.0003	0.0003	0.0003	0.0008	0.0002	0.0002	0.0005	0.0004	0.0002	0	0.0008	0	0	0.0002	0	0.0002	0.0005	0	0.293	0.38633	T	0.404	0.92824	T	0.021	0.18474	B	0.016	0.17743	B	0.976006	0.07810	N	1.011940	1	0.08975	N	2.14	0.59869	M	3.17	0.44461	T	-0.17	0.15986	N	0.296	0.34012	-1.0627	0.11093	T	0.073	0.29451	T	10	0.024040341	0.00648	T	0.005968	0.15579	T	0.037	0.09474	.	.	0.528662862717	0.52513	0.27551844983981943	0.27464	0.0564118290623	0.06233	0.366003274918	0.20257	T	0.016171	0.16617	T	-0.46538	0.00909	T	-0.563532	0.16046	T	0.00855027854842096	0.00104	T	0.589341	0.26349	T	.	.	.	.	.	.	.	.	-3.317	0.29786	T	.	.	0.087	0.14888	B	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	1.312178	0.17156	12.99	0.71122612660607376	0.09522	0.24554	0.22429	N	AEFDGBCI	0.271515	0.38735	N	-0.935542860350486	0.10020	0.4768564	-0.996415549027231	0.09865	0.4933518	0.999995865308881	0.74766	0.582742	0.33608	0	0.52208	0.09955	0	0.61531	0.40942	0	0.530356	0.10902	0	.	.	3.29	2.39	0.28492	1.344000	0.33547	-1.064000	0.06442	-0.848000	0.02741	0.057000	0.21666	0.000000	0.08366	0.000000	0.00833	0.0:0.7654:0.2346:0.0	8.648	0.33180	325	0.86759	.;.;.;.;.;.;.;.;.	.	.	.	.	.	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	1144.98	48	chr12	57477464	.	C	T	1144.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.06;DP=855;ExcessHet=0.0000;FS=8.118;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.90;ReadPosRankSum=0.028;SOR=0.976	GT:AD:DP:GQ:PL	0/1:32,40:72:99:1159,0,784	20	0	1	0
chr12	64424689	64424689	G	A	exonic	XPOT	.	nonsynonymous SNV	XPOT:NM_007235:exon12:c.G1273A:p.A425T,	.	.	615	905	2	0	0	2	0.00110375	.	.	2221289	not_provided|not_specified	MedGen:C3661900|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	.	.	0.0	B	0.0	B	0.000	D	0.995	D	0.205	N	-0.23	T	-0.964	T	0.140	T	0.135	0.888	8.604	5.42	2.732	5.625	12.901	0.064	0.0168388382216	.	0.000399361	6.592e-05	0	0	0	0	4.496e-05	0	0.0003	6.47e-05	10	154602	rs528132023	4.38e-05	4.378e-05	2.724e-05	6.054e-05	0.0003	3.51e-05	3.194e-05	0.0002	0.0002	0	0	0	0	0	0.0002	2.518e-05	9.946e-05	0.0003	1.972e-05	1.969e-05	0	4.032e-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	0.82	0.02958	T	0.636	0.07059	T	0.0	0.02946	B	0.0	0.01387	B	0.000051	0.53742	D	0.162995	0.995173	0.42575	D	-0.345	0.03330	N	-0.23	0.66652	T	-0.37	0.13226	N	0.219	0.24510	-0.9639	0.38428	T	0.140	0.45828	T	9	0.037675083	0.02137	T	0.016839	0.38283	T	0.064	0.18567	.	.	0.0934897674506	0.08844	0.10862987213346623	0.10791	0.344783530662	0.36405	0.643928408623	0.59122	T	0.091776	0.38867	T	-0.351897	0.04609	T	-0.44706	0.28021	T	0.0999491786386988	0.12352	T	0.876912	0.58964	D	0.05691841	0.11262	0.09282682	0.21895	0.05691841	0.11261	0.09282682	0.21895	-3.942	0.22933	T	.	.	0.076	0.05756	B	.	.	2.793284	0.36723	20.3	0.62569026178375409	0.06996	0.95710	0.65826	D	AEFGBI	0.468302	0.51516	N	-0.136444899387964	0.35814	2.061911	0.0676556386997695	0.42933	2.605708	0.998410800989557	0.36924	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.42	5.42	0.78666	5.713000	0.68067	11.770000	0.95838	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.886000	0.42526	0.0746:0.0:0.9254:0.0	12.901	0.57515	815	0.41851	.	.	.	.	.	.	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	1095.98	38	chr12	64424689	.	G	A	1095.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.053;DP=872;ExcessHet=0.0000;FS=0.701;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.37;ReadPosRankSum=-9.340e-01;SOR=0.834	GT:AD:DP:GQ:PL	0/1:69,48:117:99:1110,0,1740	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	0/1:12,4,0,0:16:70:70,0,279,107,291,398,107,291,398,398	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	0/1:12,4,0,0:16:70:70,0,279,107,291,398,107,291,398,398	3	0	8	0
chr12	81268054	81268054	C	T	exonic	PPFIA2	.	nonsynonymous SNV	PPFIA2:NM_001220479:exon17:c.G1952A:p.R651H	.	.	441	1045	36	0	0	36	0.0169332	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3	T	1.0	D	0.992	D	0.000	D	1.000	D	1.44	L	-1.92	D	0.114	D	0.615	D	0.804	3.271	16.98	5.91	2.807	6.082	20.305	0.536	.	0.0070	0.00399361	0.0115	0.0022	0.0058	0	0.0012	0.0140	0.0080	0.0199	0.0064423	996	154602	rs61756413	0.0086	0.0086	0.0083	0.0088	0.0137	0.0084	0.0084	0.0130	0.0128	0.0014	0.0034	0.0102	0.0001	0.0014	0.0113	0.0092	0.0083	0.0137	0.0053	0.0054	0.0055	0.0052	0.0143	0.0050	0.0049	0.0116	0.0106	0.0014	0	0.0024	0.0118	0.0002	0.0008	0.0105	0.0086	0.0053	0.0143	0.218	0.20988	T	0.291	0.20944	T	1.0	0.90584	D	0.992	0.80445	D	0.000000	0.84330	D	0.000000	1	0.81001	D	0.835	0.21042	L	-1.92	0.84773	D	-0.11	0.23372	N	0.56	0.66700	0.114	0.84433	D	0.615	0.86389	D	10	0.013827771	0.00292	T	.	.	.	0.536	0.80545	.	.	0.930576009411	0.92986	0.39334430205409027	0.39249	1.42373316533	0.85663	0.761375904083	0.76134	T	0.058123	0.30755	T	-0.111376	0.34542	T	0.0789164	0.75505	D	0.0156376510572331	0.00358	T	0.929607	0.74365	D	0.35029003	0.57090	0.29099292	0.55124	0.35029003	0.57090	0.29099292	0.55123	-7.346	0.61404	T	.	.	0.087	0.28027	B	.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.	5.561971	0.92146	32	0.99394218987553684	0.62474	0.97156	0.73019	D	AEFHI	0.897733	0.84025	D	0.68250432754919	0.78488	6.881378	0.715415096013723	0.83549	8.050912	0.999999999999919	0.74766	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.542086	0.14980	0	.	.	5.91	5.91	0.95240	6.163000	0.71702	7.669000	0.64672	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:1.0:0.0:0.0	20.305	0.98622	766	0.49742	.;.;Sterile alpha motif domain|Sterile alpha motif domain|Sterile alpha motif domain|Liprin-alpha, SAM domain repeat 3;Sterile alpha motif domain|Sterile alpha motif domain|Sterile alpha motif domain|Liprin-alpha, SAM domain repeat 3;.;.;Sterile alpha motif domain|Sterile alpha motif domain|Sterile alpha motif domain|Liprin-alpha, SAM domain repeat 3;.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	2337.11	34	chr12	81268054	.	C	T	2337.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=2.40;DP=885;ExcessHet=0.1072;FS=0.000;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=11.02;ReadPosRankSum=0.282;SOR=0.693	GT:AD:DP:GQ:PL	0/1:47,44:91:99:1103,0,1111	19	0	2	0
chr12	88071870	88071870	T	C	exonic	CEP290	.	nonsynonymous SNV	CEP290:NM_025114:exon42:c.A5766G:p.I1922M,	Joubert syndrome 5, Autosomal recessive;Leber congenital amaurosis 10;Meckel syndrome 4, Autosomal recessive;Senior-Loken syndrome 6, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.23	T	0.018	B	0.007	B	0.008	N	1.000	N	0.715	N	0.42	T	-1.020	T	0.132	T	0.11	1.629	11.40	1.3	0.821	0.450	5.440	0.019	0.0152410199645	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.268	0.16198	T	0.319	0.26883	T	0.018	0.17786	B	0.007	0.12992	B	0.007759	0.31217	N	0.417674	0.963716	0.26013	N	0.88	0.21560	L	-0.22	0.66474	T	-0.55	0.16799	N	0.158	0.16586	-1.0201	0.23682	T	0.132	0.44366	T	10	0.07762176	0.12273	T	0.015241	0.35857	T	0.019	0.03383	0.239	0.17065	0.596177834036	0.59297	0.16368843717570075	0.16288	0.0534937594924	0.05900	0.329023599625	0.14786	T	0.135594	0.46750	T	-0.173495	0.24707	T	-0.48699	0.23707	T	0.0837526246905327	0.10460	T	0.767423	0.39577	T	0.03887691	0.05263	0.040730033	0.04470	0.03887691	0.05263	0.040730033	0.04469	-3.27	0.13353	T	0.080311488357157	0.04039	0.059	0.01715	B	.;.;.	.;.;.	0.785634	0.11562	8.153	0.96498286191207161	0.30034	0.58312	0.30608	D	AEFBI	0.088385	0.17918	N	-0.456927952624568	0.23506	1.262778	-0.31237931910196	0.27698	1.538832	0.00197731880883092	0.09053	0.732398	0.92422	0	0.743671	0.97443	0	0.653264	0.51672	0	0.727631	0.95156	0	.	.	5.34	1.3	0.20778	0.464000	0.21700	-0.113000	0.11807	-0.186000	0.09761	0.998000	0.41325	0.717000	0.26328	0.939000	0.47918	0.2652:0.1302:0.0:0.6046	5.440	0.15802	876	0.30350	.;.;.	.	.	.	.	.	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	1543.98	34	chr12	88071870	.	T	C	1543.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.05;DP=830;ExcessHet=0.0000;FS=2.965;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.87;ReadPosRankSum=-2.853e+00;SOR=0.897	GT:AD:DP:GQ:PL	0/1:75,67:142:99:1558,0,1710	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	1/1:1,26,0,0,0:27:39:1029,39,0,1032,78,1072,1032,78,1072,1072,1032,78,1072,1072,1072	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	1/1:1,26,0,0,0:27:39:1029,39,0,1032,78,1072,1032,78,1072,1072,1032,78,1072,1072,1072	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	1/1:1,26,0,0,0:27:39:1029,39,0,1032,78,1072,1032,78,1072,1072,1032,78,1072,1072,1072	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	1/1:1,26,0,0,0:27:39:1029,39,0,1032,78,1072,1032,78,1072,1072,1032,78,1072,1072,1072	6	1	11	0
chr12	103984920	103984920	-	AGGATGCAAAGAAGATGGCT	exonic	TDG	.	frameshift insertion	TDG:NM_001363612:exon7:c.535_536insAGGATGCAAAGAAGATGGCT:p.V186Rfs*42	.	.	438	888	106	0	90	196	0.0563231	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0009	0.0029	0.0007	0.0010	0.0017	0.0008	0.0008	0.0015	0.0014	0.0009	0.0017	0.0024	0.0014	0.0011	0.0011	0.0007	0.0012	0.0017	3.977e-05	0.0003	3.886e-05	4.074e-05	0.0002	1.728e-05	1.138e-05	8.08e-06	3.02e-06	4.875e-05	0	0	0	0.0002	0.0002	0	0	0.0005	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2619	2855.73	35	chr12	103984920	.	G	GA,GAGGATGCAAAGAAGATGGCT,GAGGATGCAAAGAAGATGGCTGTTAA,GAGGATGCAAAGAAGAT	2855.73	.	AC=6,1,3,1;AF=0.143,0.024,0.071,0.024;AN=42;BaseQRankSum=2.28;DP=2265;ExcessHet=7.7275;FS=9.950;InbreedingCoeff=-0.3548;MLEAC=6,1,3,1;MLEAF=0.143,0.024,0.071,0.024;MQ=58.63;MQRankSum=-9.857e+00;QD=1.88;ReadPosRankSum=-4.625e+00;SOR=2.064	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:112,12,0,0,0:124:81:0|1:103984920_G_GA:81,0,4669,421,4705,5126,421,4705,5126,5126,421,4705,5126,5126,5126:103984920	10	0	6	0
chr12	103984920	103984920	-	AGGATGCAAAGAAGATGGCTGTTAA	exonic	TDG	.	frameshift insertion	TDG:NM_001363612:exon7:c.535_536insAGGATGCAAAGAAGATGGCTGTTAA:p.E188Gfs*8	.	.	438	888	106	0	90	196	0.0563231	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0.0003	9.285e-05	0.0002	0.0004	0.0001	0.0001	0.0003	0.0002	0.0004	0.0003	7.88e-05	0.0004	0.0002	0.0002	0.0001	0.0002	0.0001	6.627e-06	7.246e-05	0	1.357e-05	1.481e-05	0	0	.	.	0	0	0	0	0	0	0	1.481e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2619	2855.73	35	chr12	103984920	.	G	GA,GAGGATGCAAAGAAGATGGCT,GAGGATGCAAAGAAGATGGCTGTTAA,GAGGATGCAAAGAAGAT	2855.73	.	AC=6,1,3,1;AF=0.143,0.024,0.071,0.024;AN=42;BaseQRankSum=2.28;DP=2265;ExcessHet=7.7275;FS=9.950;InbreedingCoeff=-0.3548;MLEAC=6,1,3,1;MLEAF=0.143,0.024,0.071,0.024;MQ=58.63;MQRankSum=-9.857e+00;QD=1.88;ReadPosRankSum=-4.625e+00;SOR=2.064	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:112,12,0,0,0:124:81:0|1:103984920_G_GA:81,0,4669,421,4705,5126,421,4705,5126,5126,421,4705,5126,5126,5126:103984920	10	0	6	0
chr12	103984920	103984920	-	AGGATGCAAAGAAGAT	exonic	TDG	.	frameshift insertion	TDG:NM_001363612:exon7:c.535_536insAGGATGCAAAGAAGAT:p.M184Ifs*9	.	.	438	888	106	0	90	196	0.0563231	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0022	0.0098	0.0020	0.0024	0.0047	0.0021	0.0021	0.0044	0.0042	0.0028	0.0029	0.0047	0.0013	0.0014	0.0016	0.0020	0.0022	0.0047	1.988e-05	0.0002	0	4.073e-05	4.875e-05	5.29e-06	2.47e-06	8.08e-06	3.02e-06	4.875e-05	0	0	0	0	9.546e-05	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2619	2855.73	35	chr12	103984920	.	G	GA,GAGGATGCAAAGAAGATGGCT,GAGGATGCAAAGAAGATGGCTGTTAA,GAGGATGCAAAGAAGAT	2855.73	.	AC=6,1,3,1;AF=0.143,0.024,0.071,0.024;AN=42;BaseQRankSum=2.28;DP=2265;ExcessHet=7.7275;FS=9.950;InbreedingCoeff=-0.3548;MLEAC=6,1,3,1;MLEAF=0.143,0.024,0.071,0.024;MQ=58.63;MQRankSum=-9.857e+00;QD=1.88;ReadPosRankSum=-4.625e+00;SOR=2.064	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:112,12,0,0,0:124:81:0|1:103984920_G_GA:81,0,4669,421,4705,5126,421,4705,5126,5126,421,4705,5126,5126,5126:103984920	10	0	6	0
chr12	103984922	103984922	-	TAAGGA	splicing	TDG	NM_001363612:exon7:c.535+2->TAAGGA;NM_003211:exon8:c.964+2->TAAGGA	.	.	.	.	444	951	105	0	22	127	0.0523169	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	8.532e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	1.505e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1944	1501.77	35	chr12	103984922	.	T	G,TTAAGGA	1501.77	.	AC=6,1;AF=0.167,0.028;AN=36;BaseQRankSum=4.51;DP=2009;ExcessHet=2.5830;FS=10.970;InbreedingCoeff=-0.2537;MLEAC=7,1;MLEAF=0.194,0.028;MQ=58.73;MQRankSum=-1.024e+01;QD=1.56;ReadPosRankSum=-4.344e+00;SOR=2.106	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:112,12,0:124:82:0|1:103984920_G_GA:82,0,4669,421,4705,5125:103984920	11	0	6	3
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|1:65,16,0,0:81:99:0|1:103985728_A_ATTGAGAGC:475,0,2637,672,2685,3357,672,2685,3357,3357:103985728	11	0	2	0
chr12	109279865	109279865	A	T	exonic	FOXN4	.	nonsynonymous SNV	FOXN4:NM_213596:exon10:c.T1360A:p.S454T,	.	.	0	225	1	0	0	1	0.00221729	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	1.0	D	0.998	D	0.000	D	1.000	D	2.495	M	-4.37	D	1.012	D	0.935	D	0.233	3.078	16.28	2.55	0.310	3.985	11.342	0.616	0.161453976634	7.7e-05	.	0.0002	9.785e-05	0.0004	0	0	0.0002	0.0011	6.217e-05	0.0001294	20	154602	rs373292889	0.0001	0.0001	0.0001	0.0001	0.0029	9.604e-05	9.084e-05	0.0019	0.0015	0.0002	0.0005	3.826e-05	0	0	0.0029	7.555e-05	0.0004	6.957e-05	0.0002	0.0002	0.0002	0.0001	0.0004	0.0001	0.0001	0.0002	0.0001	4.811e-05	0	0.0004	0	0	0	0.0102	0.0002	0.0014	0	0.002	0.72154	D	0.007	0.92824	D	1.0	0.90584	D	0.998	0.88582	D	0.000068	0.52346	D	0.132116	0.999972	0.53665	D	2.14	0.59869	M	-4.48	0.97606	D	-1.67	0.40850	N	0.147	0.17828	1.012	0.97386	D	0.935	0.97860	D	10	0.18890125	0.34466	T	0.161454	0.84125	D	0.616	0.85039	.	.	0.97924222124	0.97902	0.730330328833299	0.72978	0.485592621436	0.47432	0.493072926998	0.37864	T	0.423522	0.77425	T	-0.0925001	0.37663	T	-0.042686	0.67520	D	0.110058211271872	0.13430	T	0.729427	0.34485	T	0.13209848	0.30769	0.17348203	0.39678	0.13209848	0.30769	0.17348203	0.39677	-4.493	0.33777	T	.	.	0.090	0.12750	B	.;.	.;.	2.753855	0.36104	20.2	0.99221060398037886	0.55901	0.94493	0.61343	D	AEFBI	0.552805	0.56432	D	0.358002333054453	0.59164	4.093514	0.224631846836198	0.51218	3.306215	0.0155040275489841	0.12721	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	5.02	2.55	0.29757	4.857000	0.62639	2.427000	0.32714	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.107000	0.18608	0.7111:0.2889:0.0:0.0	11.342	0.48778	749	0.51929	.;.	.	.	.	.	.	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	3411.08	43	chr12	109279865	.	A	T	3411.08	.	AC=2;AF=0.048;AN=42;DP=835;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;QD=30.73;SOR=0.748	GT:AD:DP:GQ:PL	1/1:0,111:111:99:3439,333,0	20	1	0	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|2:0,0,66:66:99:1|1:111598949_GGCT_G:2654,2654,2654,198,198,0:111598949	2	0	0	0
chr12	113316609	113316609	T	G	exonic	SLC8B1	.	nonsynonymous SNV	SLC8B1:NM_001330466:exon9:c.A742C:p.I248L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.37	T	0.005	B	0.007	B	0.000	N	1.000	D	1.21	L	0.24	T	-1.065	T	0.113	T	0.242	2.074	12.89	1.69	0.054	3.708	5.090	0.074	0.00657327479783	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1445842694	4.789e-06	4.788e-06	6.806e-06	2.75e-06	2.987e-05	1.99e-06	1.28e-06	1.94e-06	1.28e-06	2.987e-05	0	0	0	0	0	5.396e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.035	0.43708	D	0.291	0.22962	T	0.005	0.12996	B	0.007	0.12992	B	0.000019	0.62929	N	0.066734	0.99865	0.45228	D	.	.	.	0.24	0.59983	T	-0.97	0.25770	N	0.423	0.46274	-1.0650	0.10549	T	0.113	0.40354	T	10	0.19314393	0.35071	T	0.006573	0.17329	T	0.074	0.21613	0.438	0.49157	0.411932830014	0.40813	0.5033704193717913	0.50259	0.137060093867	0.15456	0.530982911587	0.43173	T	0.189336	0.54353	T	-0.0815845	0.39455	T	-0.354967	0.38635	T	0.292324161446963	0.24686	T	0.59614	0.22965	T	0.07784647	0.17692	0.064398415	0.12902	0.07784647	0.17692	0.064398415	0.12902	-6.763	0.56110	T	.	.	0.115	0.36012	B	.;.;.	.;.;.	2.867425	0.37909	20.6	0.96769369989136222	0.31031	0.86557	0.45862	D	AEFDBCI	0.441784	0.49978	N	-0.483639936930551	0.22617	1.208904	-0.384159948536053	0.25468	1.400804	0.582061260563644	0.21579	0.732398	0.92422	0	0.743671	0.97443	0	0.65145	0.50148	0	0.714379	0.83352	0	.	.	4.15	1.69	0.23290	3.670000	0.54305	1.520000	0.27085	0.607000	0.46521	1.000000	0.71638	1.000000	0.68203	0.914000	0.44937	0.0:0.1686:0.1544:0.677	5.090	0.14035	826	0.39940	.;.;.	.	.	.	.	.	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	0.04762	3384.08	33	chr12	113316609	.	T	G	3384.08	.	AC=2;AF=0.048;AN=42;DP=813;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;QD=31.05;SOR=0.912	GT:AD:DP:GQ:PL	1/1:0,109:109:99:3412,327,0	20	1	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	2/2:0,0,57,0,0:57:99:2272,2272,2273,171,171,0,2272,2273,171,2273,2272,2273,171,2273,2273	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	2/2:0,0,57,0,0:57:99:2272,2272,2273,171,171,0,2272,2273,171,2273,2272,2273,171,2273,2273	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	2/2:0,0,57,0,0:57:99:2272,2272,2273,171,171,0,2272,2273,171,2273,2272,2273,171,2273,2273	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	2/2:0,0,57,0,0:57:99:2272,2272,2273,171,171,0,2272,2273,171,2273,2272,2273,171,2273,2273	0	1	2	0
chr12	128544097	128544097	G	A	exonic	TMEM132C	.	nonsynonymous SNV	TMEM132C:NM_001136103:exon3:c.G1115A:p.R372H,	.	.	431	1090	1	0	0	1	0.000458505	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08	T	0.477	P	0.048	B	.	.	0.899	N	1.5	L	2.55	T	-1.060	T	0.028	T	0.182	1.878	12.24	2.87	0.514	1.833	10.796	0.016	0.00789856746837	.	.	0.0002	0	0	0	0	0.0004	0	0	3.23e-05	5	154602	rs759264452	0.0001	0.0001	0.0001	9.845e-05	0.0006	9.073e-05	8.512e-05	0.0002	9.962e-05	3.234e-05	3.032e-05	0	2.871e-05	0	0.0006	0.0001	0.0001	0	8.535e-05	8.53e-05	5.14e-05	0.0001	0.0001	4.953e-05	3.96e-05	6.803e-05	5.087e-05	2.405e-05	0	6.53e-05	0	0	0	0	0.0001	0.0009	0	0.473	0.08408	T	0.098	0.39040	T	0.477	0.36687	P	0.048	0.24975	B	.	.	.	.	0.999905	0.27743	N	2.045	0.56016	M	2.55	0.13795	T	-1.12	0.28906	N	0.15	0.15328	-1.0605	0.11632	T	0.028	0.12190	T	9	0.098647475	0.17850	T	0.007899	0.20955	T	0.016	0.02506	.	.	0.043077524339	0.03247	0.23150915692542706	0.23065	0.117901996742	0.13276	0.474954485893	0.35363	T	0.011932	0.10575	T	-0.445068	0.01207	T	-0.612657	0.11770	T	0.0853243097662926	0.10653	T	0.729627	0.34527	T	0.055220716	0.10703	0.06863291	0.14357	0.055220716	0.10703	0.06863291	0.14357	-4.683	0.33197	T	.	.	0.090	0.12512	B	.	.	1.688914	0.21521	15.23	0.98513663369059412	0.42374	0.43868	0.27193	N	AEFDI	0.145977	0.26932	N	-0.378208458605597	0.26246	1.431014	-0.405682532619365	0.24830	1.361922	0.0011071197150348	0.08228	0.487112	0.14033	0	0.573888	0.26702	0	0.59043	0.30614	0	0.564101	0.26826	0	.	.	4.71	2.87	0.32523	2.080000	0.41211	-0.001000	0.13204	0.676000	0.76740	0.945000	0.32849	0.000000	0.08366	0.400000	0.26782	0.1546:0.0:0.8454:0.0	10.796	0.45663	993	0.01300	.	.	.	.	.	.	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	3219.66	34	chr12	128544097	.	G	A	3219.66	.	AC=3;AF=0.071;AN=42;BaseQRankSum=-2.793e+00;DP=893;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=0.6410;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=23.50;ReadPosRankSum=0.057;SOR=0.624	GT:AD:DP:GQ:PL	1/1:0,70:70:99:2284,210,0	19	1	1	0
chr12	130397455	130397455	C	T	exonic	RIMBP2	.	nonsynonymous SNV	RIMBP2:NM_001351227:exon21:c.G3278A:p.S1093N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.39397746	0.55093	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.483452	0.14697	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.162	0.35849	B	.	.	4.461572	0.69446	25.4	0.93486482953483174	0.23286	0.98257	0.80997	D	AEFDBI	.	.	.	.	.	.	.	.	.	0.983559374578719	0.30578	0.162113	0.03585	0	0.18701	0.04157	0	0.060301	0.00762	0	0.057018	0.00518	0	0.986123	0.94097	5.97	5.97	0.96935	4.598000	0.60777	7.579000	0.60911	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:1.0:0.0:0.0	20.439	0.99109	994	0.00715	.	.	.	.	.	.	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	0.09091	37.22	58	chr12	130397455	.	C	T	37.22	.	AC=2;AF=0.091;AN=22;DP=58;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=0.3374;MLEAC=2;MLEAF=0.091;MQ=60.00;QD=18.61;SOR=0.693	GT:AD:DP:GQ:PL	1/1:0,2:2:6:49,6,0	10	1	0	10
chr12	131756617	131756617	A	G	exonic	SFSWAP	.	nonsynonymous SNV	SFSWAP:NM_001261411:exon11:c.A1693G:p.T565A	.	.	429	1049	43	1	0	45	0.0209986	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.91	T	0.0	B	0.001	B	0.544	N	1.000	N	0.69	N	2.99	T	-0.989	T	0.018	T	0.219	0.301	5.631	-3.66	-1.039	-0.389	5.562	0.009	.	0.0036	0.00658946	0.0081	0.0008	0.0040	0.0001	0.0002	0.0068	0.0097	0.0310	0.0069792	1079	154602	rs145713017	0.0068	0.0067	0.0060	0.0075	0.0267	0.0066	0.0066	0.0257	0.0254	0.0009	0.0035	0.0129	5.067e-05	0.0003	0.0131	0.0059	0.0077	0.0267	0.0043	0.0043	0.0041	0.0045	0.0232	0.0040	0.0039	0.0198	0.0184	0.0010	0	0.0024	0.0147	0	0.0004	0.0102	0.0057	0.0057	0.0232	0.649	0.06779	T	0.784	0.05488	T	0.0	0.02946	B	0.0	0.01387	B	0.543757	0.05329	N	1.222960	1	0.08975	N	0.55	0.14455	N	2.98	0.09356	T	-0.82	0.22508	N	0.057	0.02861	-0.9893	0.32778	T	0.018	0.07565	T	10	0.003207326	0.00054	T	.	.	.	0.009	0.00846	.	.	0.246926113748	0.24311	0.06098012363249152	0.06038	0.433426700291	0.43500	0.341311901808	0.16635	T	0.045552	0.27157	T	-0.663629	0.00060	T	-0.706436	0.05481	T	0.00248593843203346	0.00026	T	0.407159	0.12198	T	0.021300873	0.00725	0.019259317	0.00083	0.021300873	0.00725	0.019259317	0.00083	-2.676	0.07103	T	.	.	0.057	0.01143	B	.;.	.;.	-0.337826	0.02456	0.282	0.50248361701415034	0.04351	0.01620	0.05236	N	AEFDBI	0.018817	0.00600	N	-1.52238196200166	0.01703	0.07453626	-1.55110784914675	0.01968	0.08988614	0.0111596481021623	0.12139	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.34	-3.66	0.04200	-0.421000	0.07118	1.784000	0.28742	-0.057000	0.16691	0.000000	0.06391	0.009000	0.19889	0.008000	0.08271	0.2274:0.0973:0.5789:0.0964	5.562	0.16433	982	0.03397	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	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	717.98	37	chr12	131756617	.	A	G	717.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.606;DP=812;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.86;ReadPosRankSum=-8.260e-01;SOR=0.735	GT:AD:DP:GQ:PL	0/1:50,31:81:99:732,0,1351	20	0	1	0
chr12	132062526	132062526	-	GCA	exonic	EP400	.	nonframeshift insertion	EP400:NM_015409:exon47:c.8159_8160insGCA:p.Q2748_T2749insQ,	.	.	350	929	220	16	7	259	0.119431	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1429	4888.26	92	chr12	132062523	.	GGCA	GGCAGCA,G	4888.26	.	AC=5,1;AF=0.119,0.024;AN=42;BaseQRankSum=-3.640e-01;DP=1498;ExcessHet=1.7912;FS=2.679;InbreedingCoeff=-0.1667;MLEAC=5,1;MLEAF=0.119,0.024;MQ=59.98;MQRankSum=0.00;QD=7.44;ReadPosRankSum=-6.150e-01;SOR=0.711	GT:AD:DP:GQ:PL	0/1:64,31,0:95:99:733,0,1932,927,2025,2952	15	0	5	0
chr12	132062524	132062526	GCA	-	exonic	EP400	.	nonframeshift deletion	EP400:NM_015409:exon47:c.8157_8159del:p.Q2748del,	.	.	350	929	220	16	7	259	0.119431	.	.	3198656	EP400-related_disorder	.	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0695	.	0.0079	0.0062	0.0086	0.0139	0.0069	0.0074	0.0037	0.0077	0.0045336	118	26028	rs751944198	8.771e-05	0.0006	9.222e-05	8.317e-05	0.0004	7.501e-05	6.991e-05	0.0002	0.0002	0.0004	6.891e-05	0	7.673e-05	0.0001	0	7.45e-05	5.091e-05	0.0002	0.0002	0.0002	0.0002	0.0002	0.0004	0.0001	0.0001	0.0003	0.0002	0.0004	0	0	0	0.0002	0	0	0.0001	0	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1429	4888.26	92	chr12	132062523	.	GGCA	GGCAGCA,G	4888.26	.	AC=5,1;AF=0.119,0.024;AN=42;BaseQRankSum=-3.640e-01;DP=1498;ExcessHet=1.7912;FS=2.679;InbreedingCoeff=-0.1667;MLEAC=5,1;MLEAF=0.119,0.024;MQ=59.98;MQRankSum=0.00;QD=7.44;ReadPosRankSum=-6.150e-01;SOR=0.711	GT:AD:DP:GQ:PL	0/1:64,31,0:95:99:733,0,1932,927,2025,2952	15	0	5	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	1|1:1,39,0,0,0:40:80:1|1:132148890_ACCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCC_A:1546,80,0,1549,122,1591,1549,122,1591,1591,1549,122,1591,1591,1591:132148890	4	2	6	0
chr13	21155151	21155151	-	AGTTTTCTTTGT	splicing	SKA3	NM_145061:exon9:c.1239-1->ACAAAGAAAACT;NM_001166017:exon8:c.1120-1->ACAAAGAAAACT	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0009	0.0021	0.0009	0.0009	0.0032	0.0009	0.0009	0.0027	0.0025	0.0005	0.0008	0.0015	0.0032	0.0040	0.0007	0.0007	0.0013	0.0004	0.0039	0.0049	0.0039	0.0040	0.0110	0.0037	0.0036	0.0087	0.0078	0.0011	0.0022	0.0047	0.0035	0.0110	0.0102	0	0.0038	0.0085	0.0048	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	1065.07	34	chr13	21155151	.	C	CAGTTTTCTTTGT	1065.07	.	AC=2;AF=0.048;AN=42;BaseQRankSum=3.40;DP=903;ExcessHet=0.1072;FS=15.292;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=7.45;ReadPosRankSum=1.18;SOR=1.065	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:62,18:80:99:0|1:21155151_C_CAGTTTTCTTTGT:559,0,2526:21155151	19	0	2	0
chr13	21155744	21155744	C	A	exonic	SKA3	.	nonsynonymous SNV	SKA3:NM_145061:exon8:c.G1187T:p.R396M,	.	.	424	1074	24	0	0	24	0.0110497	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.11	T	0.699	P	0.149	B	0.002	N	1.000	N	0	N	1.93	T	-1.023	T	0.022	T	0.194	2.214	13.36	-7.57	-1.313	-0.988	1.636	0.044	0.00655732284586	0.0025	0.000998403	0.0032	0.0002	0.0024	0	0.0006	0.0040	0.0011	0.0048	0.0028395	439	154602	rs142890023	0.0026	0.0027	0.0025	0.0028	0.0078	0.0026	0.0025	0.0060	0.0054	0.0004	0.0030	0.0257	0	0.0003	0.0078	0.0021	0.0039	0.0042	0.0027	0.0027	0.0026	0.0028	0.0065	0.0025	0.0024	0.0055	0.0051	0.0004	0	0.0065	0.0283	0	0.0002	0	0.0026	0.0029	0.0021	0.115	0.28520	T	0.114	0.36765	T	0.699	0.41837	P	0.149	0.34106	B	0.002066	0.00855	N	3.612860	1	0.08975	N	1.1	0.28011	L	1.93	0.22881	T	0.05	0.06369	N	0.266	0.30118	-1.0233	0.22638	T	0.022	0.09330	T	10	0.0023711026	0.00035	T	0.006557	0.17301	T	0.044	0.11924	.	.	0.0611884634855	0.05136	0.1217849557672996	0.12105	0.26630172821	0.29171	0.234472036362	0.02315	T	0.002509	0.01904	T	-0.574407	0.00208	T	-0.59871	0.12919	T	0.0205916437736956	0.00759	T	0.257374	0.04056	T	0.04667294	0.07851	0.018296078	0.00051	0.04667294	0.07850	0.018296078	0.00051	-3.985	0.23578	T	.	.	0.102	0.18206	B	.	.	0.787864	0.11583	8.173	0.87692296343027942	0.17412	0.00902	0.03533	N	AEFBI	0.038169	0.05362	N	-1.07229275287915	0.07157	0.331655	-1.21817822696198	0.05618	0.2681761	0.999906649784887	0.45458	0.732398	0.92422	0	0.743671	0.97443	0	0.724815	0.87919	0	0.727631	0.95156	0	.	.	5.05	-7.57	0.01176	-1.136000	0.03334	0.074000	0.14299	0.535000	0.24933	0.000000	0.06391	0.000000	0.08366	0.852000	0.40310	0.2247:0.3987:0.1781:0.1985	1.636	0.02577	630	0.65016	.	.	.	.	.	.	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	1232.98	42	chr13	21155744	.	C	A	1232.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.302e+00;DP=1150;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.62;ReadPosRankSum=-5.860e-01;SOR=0.727	GT:AD:DP:GQ:PL	0/1:86,57:143:99:1247,0,2337	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	1/2:7,17,22,0:49:99:975,410,458,214,0,371,811,529,447,980	1	1	4	0
chr13	21159988	21159988	-	ACTTTTTTCCAACTGCTGGATGATGGGGCTGGGAGTGGCAAAAACATTATCATTGAGCCTGGA	splicing	SKA3	NM_145061:exon6:c.830-1->TCCAGGCTCAATGATAATGTTTTTGCCACTCCCAGCCCCATCATCCAGCAGTTGGAAAAAAGT;NM_001166017:exon6:c.830-1->TCCAGGCTCAATGATAATGTTTTTGCCACTCCCAGCCCCATCATCCAGCAGTTGGAAAAAAGT	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.68e-05	2	26028	.	0.0003	0.0003	0.0002	0.0005	0.0019	0.0003	0.0003	0.0011	0.0008	3.125e-05	9.925e-05	0.0002	0.0007	0.0005	0.0019	0.0003	0.0002	0.0002	7.913e-05	0.0002	9.03e-05	6.744e-05	0.0002	4.511e-05	3.524e-05	7.94e-05	6.017e-05	0	0	0	0	0.0002	0	0	0.0001	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09524	4035.12	33	chr13	21159988	.	C	CACTTTTTTCCAACTGCTGGATGATGGGGCTGGGAGTGGCAAAAACATTATCATTGAGCCTGGA,CACTTTTTTCCAACTGCTGGATGATGGGGCTGGGAGTGGCAAAAACATTATCATTGAGCCTGGATTCTG	4035.12	.	AC=1,3;AF=0.024,0.071;AN=42;BaseQRankSum=3.98;DP=1193;ExcessHet=0.6776;FS=0.000;InbreedingCoeff=-0.1053;MLEAC=1,3;MLEAF=0.024,0.071;MQ=60.00;MQRankSum=0.00;QD=10.14;ReadPosRankSum=-1.630e+00;SOR=0.714	GT:AD:DP:GQ:PL	0/2:58,0,29:87:99:1042,1218,3634,0,2417,2329	17	0	1	0
chr13	21159988	21159988	-	ACTTTTTTCCAACTGCTGGATGATGGGGCTGGGAGTGGCAAAAACATTATCATTGAGCCTGGATTCTG	splicing	SKA3	NM_145061:exon6:c.830-1->CAGAATCCAGGCTCAATGATAATGTTTTTGCCACTCCCAGCCCCATCATCCAGCAGTTGGAAAAAAGT;NM_001166017:exon6:c.830-1->CAGAATCCAGGCTCAATGATAATGTTTTTGCCACTCCCAGCCCCATCATCCAGCAGTTGGAAAAAAGT	.	.	.	.	437	1077	1	0	7	8	0.000464037	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0009	0.0009	0.0005	0.0013	0.0016	0.0009	0.0009	0.0013	0.0012	0.0001	0.0004	0.0002	0.0016	0.0036	0.0011	0.0009	0.0009	0.0006	9.245e-05	0.0006	5.162e-05	0.0001	0.0004	5.554e-05	4.386e-05	6.934e-05	5.109e-05	2.419e-05	0	6.588e-05	0	0.0004	9.537e-05	0	0.0001	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09524	4035.12	33	chr13	21159988	.	C	CACTTTTTTCCAACTGCTGGATGATGGGGCTGGGAGTGGCAAAAACATTATCATTGAGCCTGGA,CACTTTTTTCCAACTGCTGGATGATGGGGCTGGGAGTGGCAAAAACATTATCATTGAGCCTGGATTCTG	4035.12	.	AC=1,3;AF=0.024,0.071;AN=42;BaseQRankSum=3.98;DP=1193;ExcessHet=0.6776;FS=0.000;InbreedingCoeff=-0.1053;MLEAC=1,3;MLEAF=0.024,0.071;MQ=60.00;MQRankSum=0.00;QD=10.14;ReadPosRankSum=-1.630e+00;SOR=0.714	GT:AD:DP:GQ:PL	0/2:58,0,29:87:99:1042,1218,3634,0,2417,2329	17	0	1	0
chr13	23333585	23333585	C	G	exonic	SACS	.	nonsynonymous SNV	SACS:NM_001278055:exon8:c.G9850C:p.V3284L	Spastic ataxia, Charlevoix-Saguenay type, Autosomal recessive	.	1	1483	32	0	6	38	0.0106738	.	.	684394	Charlevoix-Saguenay_spastic_ataxia|SACS-related_disorder|Spastic_paraplegia|not_provided	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550,Orphanet:98|.|Human_Phenotype_Ontology:HP:0001258,Human_Phenotype_Ontology:HP:0007062,Human_Phenotype_Ontology:HP:0007124,Human_Phenotype_Ontology:HP:0007216,MedGen:C0037772|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.14	T	0.656	P	0.222	B	0.000	D	0.994	D	0.895	L	-2.28	D	-0.012	T	0.515	D	0.808	3.705	18.82	5.1	1.525	4.041	15.244	0.555	0.0577134195937	0.0003	0.000798722	0.0015	0	0.0008	0	0	0.0006	0.0022	0.0081	0.0013195	204	154602	rs144179865	0.0008	0.0008	0.0005	0.0011	0.0089	0.0007	0.0007	0.0084	0.0082	2.988e-05	0.0006	0.0008	5.04e-05	0	0.0031	0.0002	0.0010	0.0089	0.0004	0.0004	0.0003	0.0005	0.0075	0.0003	0.0003	0.0055	0.0049	4.816e-05	0	0.0001	0.0009	0	0	0	0.0003	0	0.0075	0.029	0.45756	D	0.0	0.92824	D	0.656	0.40834	P	0.222	0.37884	B	0.000000	0.84330	D	0.000000	0.993666	0.42012	D	1.845	0.48678	L	-2.43	0.88689	D	-1.16	0.29727	N	0.491	0.52475	-0.0118	0.82011	T	0.515	0.81821	D	10	0.011504352	0.00251	T	0.057713	0.67063	D	0.555	0.81659	0.449	0.50957	0.84093893371	0.83941	0.6534326382826	0.65279	.	.	0.596720933914	0.52442	T	0.206031	0.56526	T	-0.0733947	0.40784	T	0.128053	0.78766	D	0.0942539796233177	0.11712	T	0.888311	0.61778	D	0.15958892	0.35842	0.13414635	0.32150	0.19954336	0.41897	0.1363398	0.32619	-2.876	0.08906	T	0.3575636095310141	0.45429	0.455	0.62440	A	.;.	.;.	2.292854	0.29327	18.09	0.99526170245541101	0.69591	0.97790	0.77152	D	AEFBI	0.632199	0.61289	D	0.112761731766394	0.47058	2.936847	0.223547471888333	0.51157	3.300695	0.999999999923135	0.74766	0.732398	0.92422	0	0.709663	0.81188	0	0.65145	0.50148	0	0.727631	0.95156	0	.	.	5.94	5.1	0.68917	4.111000	0.57577	3.388000	0.38048	0.599000	0.40250	1.000000	0.71638	0.998000	0.33993	0.879000	0.42020	0.0:0.9327:0.0:0.0673	15.244	0.73188	987	0.02648	.;.	.	.	.	.	.	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	0.02381	2082.98	145	chr13	23333585	.	C	G	2082.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.83;DP=2851;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.18;ReadPosRankSum=-5.390e-01;SOR=0.645	GT:AD:DP:GQ:PL	0/1:79,79:158:99:2097,0,1981	20	0	1	0
chr13	25097017	25097020	GACG	-	exonic	PABPC3	.	frameshift deletion	PABPC3:NM_030979:exon1:c.819_822del:p.T274Nfs*9,	.	.	426	825	261	1	9	272	0.13748	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0.0028	0.0002	0.0002	0.0040	0.0002	0.0002	0.0035	0.0033	0	0.0021	7.771e-05	0.0040	0	0.0002	4.518e-06	8.357e-05	0.0005	0.0038	0.0053	0.0031	0.0045	0.0558	0.0035	0.0034	0.0505	0.0484	0.0002	0	0.0081	0.0058	0.0558	0.0010	0	0.0010	0.0052	0.0111	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4048	20220.35	244	chr13	25097016	.	AGACGGAACT	A,AGAACT	20220.35	.	AC=16,1;AF=0.381,0.024;AN=42;BaseQRankSum=1.45;DP=4626;ExcessHet=25.1139;FS=4.708;InbreedingCoeff=-0.6800;MLEAC=16,1;MLEAF=0.381,0.024;MQ=59.33;MQRankSum=-1.066e+01;QD=4.53;ReadPosRankSum=-8.050e-01;SOR=1.221	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:233,37,0:270:99:0|1:25097005_A_G:852,0,9672,1554,9784,11337:25097005	4	0	16	0
chr13	25097021	25097021	G	0	exonic	PABPC3	.	.	.	.	.	424	831	13	0	254	267	0.00776119	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4048	597.61	244	chr13	25097021	.	G	T,*	597.61	.	AC=1,16;AF=0.024,0.381;AN=42;BaseQRankSum=1.31;DP=4600;ExcessHet=25.1139;FS=4.708;InbreedingCoeff=-0.6800;MLEAC=1,16;MLEAF=0.024,0.381;MQ=59.15;MQRankSum=-1.027e+01;QD=0.13;ReadPosRankSum=-6.340e-01;SOR=1.224	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:233,0,37:270:99:0|1:25097005_A_G:852,1554,11337,0,9784,9672:25097005	4	0	1	0
chr13	25097025	25097030	TTAAGC	0	exonic	PABPC3	.	.	.	.	.	431	824	13	0	254	267	0.00782661	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4048	616.58	244	chr13	25097025	.	TTAAGC	T,*	616.58	.	AC=1,16;AF=0.024,0.381;AN=42;BaseQRankSum=1.65;DP=4638;ExcessHet=25.1139;FS=4.708;InbreedingCoeff=-0.6800;MLEAC=1,16;MLEAF=0.024,0.381;MQ=59.18;MQRankSum=-1.037e+01;QD=0.14;ReadPosRankSum=-4.370e-01;SOR=1.228	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:233,0,37:270:99:0|1:25097005_A_G:852,1554,11337,0,9784,9672:25097005	4	0	1	0
chr13	25097030	25097030	C	0	exonic	PABPC3	.	.	.	.	.	432	843	240	1	6	248	0.125519	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4048	19605.59	231	chr13	25097030	.	C	T,*	19605.59	.	AC=16,1;AF=0.381,0.024;AN=42;BaseQRankSum=1.79;DP=4585;ExcessHet=25.1139;FS=4.555;InbreedingCoeff=-0.6800;MLEAC=16,1;MLEAF=0.381,0.024;MQ=59.30;MQRankSum=-1.040e+01;QD=4.43;ReadPosRankSum=-8.070e-01;SOR=1.174	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:231,37,0:268:99:0|1:25097005_A_G:858,0,9554,1554,9666,11219:25097005	4	0	16	0
chr13	32443611	32443611	G	A	exonic	N4BP2L2	.	nonsynonymous SNV	N4BP2L2:NM_001278432:exon7:c.C881T:p.T294I	.	.	433	1078	11	0	0	11	0.00507614	.	.	2342458	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	1	T	0.002	B	0.003	B	0.036	N	1.000	N	-0.255	N	.	.	-1.001	T	0.030	T	0.011	-0.792	0.697	-8.19	-2.065	-0.574	6.511	0.035	0.00353907260379	0.0004	0.000399361	0.0005	0.0002	0.0012	0	0	0.0006	0	0.0001	0.0004075	63	154602	rs147501500	0.0003	0.0003	0.0003	0.0003	0.0085	0.0003	0.0003	0.0066	0.0059	0.0006	0.0007	0.0003	0	0	0.0085	0.0003	0.0010	8.156e-05	0.0003	0.0003	0.0004	0.0003	0.0005	0.0003	0.0002	0.0003	0.0003	0.0003	0	0.0005	0.0006	0	0	0.0068	0.0004	0.0005	0	0.453	0.08917	T	1.0	0.01155	T	0.002	0.09854	B	0.003	0.08700	B	0.035847	0.01809	N	2.099920	1	0.08975	N	.	.	.	.	.	.	-0.43	0.14390	N	0.04	0.01999	-1.0013	0.29545	T	0.030	0.13023	T	9	0.010247409	0.00229	T	0.003539	0.08062	T	0.035	0.08770	.	.	0.183819452728	0.17975	0.01878042727278461	0.01832	0.0367272736908	0.03888	0.284106731415	0.08071	T	0.007495	0.06902	T	-0.648825	0.00074	T	-0.804469	0.01793	T	0.00870696973812581	0.00107	T	0.365963	0.08520	T	.	.	.	.	.	.	.	.	-3.1	0.11296	T	.	.	0.086	0.13362	B	.;.;.	.;.;.	-0.522266	0.01796	0.139	0.029024223679168716	0.00000	0.03664	0.08924	N	AEFGBCI	0.037159	0.05067	N	-1.79744645951562	0.00551	0.0237378	-1.83496541352349	0.00654	0.02906554	0.999999977980224	0.74766	0.615465	0.37627	0	0.655437	0.61614	1	0.618467	0.43123	0	0.655142	0.61905	0	.	.	5.66	-8.19	0.00922	-0.811000	0.04607	-0.812000	0.07330	-0.688000	0.04154	0.000000	0.06391	0.000000	0.08366	0.020000	0.11549	0.2273:0.1216:0.5409:0.1102	6.511	0.21421	822	0.40702	.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2285.98	34	chr13	32443611	.	G	A	2285.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.64;DP=920;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=18.44;ReadPosRankSum=-6.730e-01;SOR=0.678	GT:AD:DP:GQ:PL	0/1:45,79:124:99:2300,0,1185	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	0/1:98,42:147:83:83,0,2099	6	0	15	0
chr13	42166530	42166530	C	A	exonic	DGKH	.	nonsynonymous SNV	DGKH:NM_001297429:exon5:c.C239A:p.T80K	.	.	440	1080	2	0	0	2	0.000925069	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	T	1.0	D	0.997	D	0.000	D	1.000	D	1.095	L	1.9	T	0.034	D	0.584	D	0.796	4.258	22.2	5.81	2.747	7.776	20.079	0.435	0.0681455256436	0.0016	0.000998403	0.0024	9.647e-05	0.0004	0	0.0062	0.0034	0.0022	0.0009	0.0022703	351	154602	rs61756564	0.0027	0.0026	0.0027	0.0026	0.0030	0.0026	0.0025	0.0029	0.0028	0.0004	0.0003	0.0002	0	0.0059	0.0002	0.0030	0.0022	0.0006	0.0015	0.0015	0.0015	0.0014	0.0021	0.0013	0.0013	0.0019	0.0018	0.0003	0	0.0010	0	0	0.0042	0	0.0021	0.0019	0.0008	0.01	0.56456	D	0.382	0.25362	T	1.0	0.90584	D	0.997	0.86255	D	0.000000	0.84330	D	0.000000	1	0.81001	D	1.87	0.49600	L	-1.41	0.80560	T	-3.52	0.68412	D	0.833	0.82862	0.034	0.82926	D	0.584	0.85048	D	10	0.01274848	0.00273	T	0.068146	0.70367	D	0.435	0.74022	.	.	0.709627241269	0.70709	0.7270321109951988	0.72647	1.43713620265	0.85906	0.656876266003	0.60963	T	0.223184	0.58725	T	-0.0704008	0.41262	T	0.122733	0.78414	D	0.0495550281332015	0.05421	T	0.89601	0.63722	D	0.2471338	0.47688	0.29328346	0.55356	0.2471338	0.47688	0.29328346	0.55356	-6.622	0.51410	T	.	.	0.287	0.51942	B	.;.;.;.;.	.;.;.;.;.	3.894984	0.56694	23.8	0.99147396431828128	0.53709	0.98575	0.84269	D	AEFBI	0.889730	0.82409	D	0.479778140096686	0.65910	4.882356	0.562872770215528	0.72297	5.787751	0.999999999999999	0.74766	0.651	0.46895	0	0.708844	0.79440	0	0.547309	0.15389	0	0.655142	0.61905	0	.	.	5.81	5.81	0.92413	7.905000	0.86479	5.963000	0.51859	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.892000	0.42986	0.0:1.0:0.0:0.0	20.079	0.97766	779	0.47767	.;.;.;.;.	.	.	.	.	.	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	951.98	42	chr13	42166530	.	C	A	951.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.650;DP=760;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.11;ReadPosRankSum=0.592;SOR=0.818	GT:AD:DP:GQ:PL	0/1:30,33:63:99:966,0,945	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	0/1:96,37:133:99:.:.:297,0,2484	0	0	20	1
chr13	48381322	48381322	C	G	exonic	RB1	.	nonsynonymous SNV	RB1:NM_000321:exon17:c.C1574G:p.A525G,	Bladder cancer, somatic;Osteosarcoma, somatic;Retinoblastoma, Autosomal dominant, Somatic mutation;Retinoblastoma, trilateral, Autosomal dominant, Somatic mutation;Small cell cancer of the lung, somatic	YES	12	1508	2	0	0	2	0.000662691	.	.	138857	Hereditary_cancer-predisposing_syndrome|not_specified|Retinoblastoma|not_provided	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MedGen:CN169374|Human_Phenotype_Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200,Orphanet:790|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.03	D	0.997	D	0.971	D	0.000	D	1.000	D	2.66	M	-2.45	D	0.542	D	0.712	D	0.483	4.152	21.5	5.17	2.379	7.484	18.647	0.764	.	0.0065	0.0061901	0.0020	0.0206	0.0020	0	0	4.787e-05	0.0023	6.299e-05	0.0017723	274	154602	rs4151539	0.0006	0.0006	0.0007	0.0006	0.0204	0.0006	0.0006	0.0191	0.0186	0.0204	0.0016	0	0	1.873e-05	0.0012	6.03e-05	0.0012	3.498e-05	0.0058	0.0058	0.0063	0.0052	0.0202	0.0054	0.0053	0.0190	0.0186	0.0202	0	0.0018	0	0	0	0	5.885e-05	0.0043	0	0.099	0.30656	T	0.028	0.54934	D	0.997	0.70673	D	0.971	0.72444	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.61	0.76335	M	-2.45	0.88847	D	-2.53	0.54864	D	0.898	0.89800	0.542	0.91134	D	0.712	0.90104	D	10	0.011211336	0.00246	T	.	.	.	0.764	0.92004	.	.	0.800405226504	0.79854	0.5062571587001278	0.50547	0.898526649263	0.70557	0.634139716625	0.57732	T	0.90212	0.98088	D	-0.184341	0.23093	T	-0.0219741	0.68899	D	0.0252928780566929	0.01311	T	0.935406	0.75832	D	0.7355265	0.80037	0.52179956	0.72372	0.7200427	0.79165	0.50820416	0.71578	-10.319	0.75799	D	0.4813072409266307	0.55991	0.219	0.49616	B	.;.	.;.	5.071974	0.84603	28.4	0.99754122190569616	0.84537	0.98323	0.81627	D	AEFBI	0.902857	0.85124	D	0.851995402694053	0.89221	9.883605	0.806061046656115	0.90211	10.30547	0.999999999673408	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.658983	0.55881	0	0.727631	0.95156	0	.	.	5.17	5.17	0.70848	7.565000	0.81337	5.980000	0.52153	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:1.0:0.0:0.0	18.647	0.91372	880	0.29376	Retinoblastoma-associated protein, A-box|Retinoblastoma-associated protein, A-box;.	.	.	.	.	.	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	588.98	40	chr13	48381322	.	C	G	588.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.179e+00;DP=755;ExcessHet=0.0000;FS=2.340;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.78;ReadPosRankSum=-1.270e-01;SOR=0.568	GT:AD:DP:GQ:PL	0/1:23,27:50:99:603,0,559	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	0/1:82,34:116:99:140,0,1625	10	0	11	0
chr13	49631029	49631029	G	C	exonic	ARL11	.	nonsynonymous SNV	ARL11:NM_138450:exon2:c.G582C:p.K194N,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.001	B	0.002	B	.	.	1.000	N	0.69	N	0.13	T	-1.028	T	0.042	T	0.042	2.048	12.80	0.84	0.195	0.717	5.811	0.037	.	0.0071	0.00758786	0.0028	0.0339	0.0008	0	0	5.1e-05	0.0031	0	0.00163	252	154602	rs35835937	0.0008	0.0008	0.0009	0.0007	0.0286	0.0008	0.0007	0.0271	0.0265	0.0286	0.0012	0	0	0	0.0018	4.664e-05	0.0017	1.211e-05	0.0070	0.0070	0.0072	0.0067	0.0239	0.0066	0.0065	0.0227	0.0222	0.0239	0	0.0031	0	0	0	0	0.0001	0.0043	0.0002	0.0	0.91255	D	0.0	0.92824	D	0.001	0.07471	B	0.002	0.06944	B	.	.	.	.	1	0.08975	N	0.69	0.16971	N	0.13	0.60973	T	-0.45	0.14782	N	0.085	0.06190	-1.0284	0.20973	T	0.042	0.17869	T	9	0.003173083	0.00053	T	.	.	.	0.037	0.09474	0.433	0.48336	0.613844073566	0.61072	0.3010764018919969	0.30020	0.187488044721	0.21068	0.334661513567	0.15637	T	0.002578	0.01964	T	-0.574721	0.00207	T	-0.5794	0.14597	T	0.0187874802097922	0.00590	T	0.40416	0.10358	T	0.07780178	0.17681	0.09754969	0.23223	0.07780178	0.17681	0.09754969	0.23222	-4.003	0.23849	T	.	.	0.178	0.38764	B	.	.	1.268184	0.16667	12.69	0.98344443740136367	0.40477	0.05953	0.11911	N	AEFBI	0.092133	0.18656	N	-0.914705554800062	0.10497	0.5019233	-0.942915932436129	0.11088	0.5627384	0.999613358404074	0.40981	0.562547	0.31514	0	0.653731	0.59785	0	0.602189	0.34648	0	0.631631	0.49550	0	.	.	4.85	0.84	0.18047	0.564000	0.23265	2.924000	0.35580	0.676000	0.76740	0.007000	0.17678	0.225000	0.23742	0.044000	0.14658	0.1723:0.2988:0.5288:0.0	5.811	0.17730	414	0.81871	.	.	.	.	.	.	Likely benign	0	0	0	0	0	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	542.98	38	chr13	49631029	.	G	C	542.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.390e-01;DP=776;ExcessHet=0.0000;FS=2.797;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.80;ReadPosRankSum=2.56;SOR=0.320	GT:AD:DP:GQ:PL	0/1:24,22:46:99:557,0,720	20	0	1	0
chr13	51251614	51251614	G	A	exonic	FAM124A	.	nonsynonymous SNV	FAM124A:NM_001242312:exon3:c.G247A:p.E83K	.	.	428	1092	0	2	0	4	0.00182815	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.997	D	0.000	D	1.000	D	2.415	M	0.38	T	-0.366	T	0.273	T	0.947	3.221	16.79	4.95	1.459	9.188	13.913	0.529	0.0878595344257	0.0021	0.000998403	0.0032	0	0.0001	0	0.0042	0.0051	0	0.0005	0.0021086	326	154602	rs146836694	0.0027	0.0026	0.0028	0.0026	0.0032	0.0026	0.0026	0.0031	0.0031	0.0004	0.0003	8.735e-05	0	0.0028	0.0002	0.0032	0.0024	0.0003	0.0018	0.0018	0.0021	0.0016	0.0033	0.0017	0.0016	0.0029	0.0028	0.0005	0	0.0005	0	0	0.0024	0	0.0033	0.0009	0.0004	0.003	0.72154	D	0.005	0.72224	D	1.0	0.90584	D	0.992	0.86255	D	0.000000	0.84330	D	0.000000	0.999999	0.58761	D	2.905	0.84014	M	0.38	0.57575	T	-3.96	0.73579	D	0.876	0.92433	-0.3658	0.73089	T	0.273	0.64515	T	10	0.054037213	0.05690	T	0.08786	0.75019	D	0.529	0.80128	.	.	0.72265496238	0.72020	0.8910373508187279	0.89073	1.00761782121	0.74645	0.670258581638	0.62874	T	0.369067	0.73384	T	0.011616	0.53246	T	0.243389	0.85306	D	0.0662834907180883	0.08119	T	0.946005	0.79398	D	0.61937606	0.73730	0.49665838	0.70893	0.61937606	0.73731	0.49665838	0.70894	-9.737	0.76068	D	.	.	0.689	0.79878	P	.;.;.	.;.;.	4.636968	0.73778	26.0	0.99854902507314824	0.93368	0.98836	0.87495	D	AEFDBI	0.839187	0.75662	D	0.336986846120989	0.58057	3.975789	0.214966704079992	0.50677	3.257323	0.999999610404202	0.74766	0.67177	0.52595	0	0.547309	0.14657	0	0.702456	0.68683	0	0.528226	0.09195	0	.	.	5.79	4.95	0.64894	9.356000	0.96506	11.764000	0.95697	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.051000	0.15275	0.0727:0.0:0.9273:0.0	13.913	0.63385	901	0.24189	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	213.98	34	chr13	51251614	.	G	A	213.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.540e-01;DP=745;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=4.86;ReadPosRankSum=1.03;SOR=0.892	GT:AD:DP:GQ:PL	0/1:33,11:44:99:228,0,1029	20	0	1	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	0/1:93,34:141:31:31,0,1443	5	0	15	1
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	1/1:0,61,0:61:99:.:.:2663,185,0,2663,185,2663	9	2	7	0
chr13	103066104	103066104	A	G	exonic	SLC10A2	.	nonsynonymous SNV	SLC10A2:NM_000452:exon1:c.T146C:p.M49T,	Bile acid malabsorption, primary, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.984	D	0.925	D	0.000	D	1.000	D	3.19	M	2.62	T	-0.783	T	0.135	T	0.88	4.489	24.1	5.67	2.163	9.315	15.915	0.583	0.0736632301234	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.736e-06	2.736e-06	0	5.501e-06	1.799e-06	6.4e-07	4.3e-07	3e-07	1.1e-07	0	0	0	0	0	0	1.799e-06	3.312e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.68238	D	0.003	0.76473	D	0.984	0.60733	D	0.925	0.65999	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.705	0.94653	H	2.62	0.12988	T	-4.48	0.77965	D	0.905	0.90590	-0.7834	0.56110	T	0.135	0.44933	T	10	0.94135237	0.93461	D	0.073663	0.71846	D	0.583	0.83249	0.803	0.92160	0.752207073155	0.74996	0.9897879241413202	0.98973	0.0202218398039	0.01983	0.614849150181	0.55001	T	0.255273	0.62604	T	0.206348	0.74486	D	0.058628	0.74155	D	0.996900320053101	0.90332	D	0.828317	0.49240	T	0.844878	0.86960	0.8750305	0.93215	0.844878	0.86961	0.8750305	0.93216	-13.005	0.89385	D	0.594891461000571	0.66175	0.87	0.80878	P	.	.	4.722987	0.75993	26.4	0.99472621542060402	0.66419	0.99753	0.99211	D	AEFBI	0.889004	0.82267	D	0.935771967628573	0.93399	12.01373	0.889669333525744	0.95106	13.31704	0.999999999966654	0.74766	0.487112	0.14033	0	0.547309	0.14657	0	0.491513	0.07944	0	0.564101	0.26826	0	.	.	5.67	5.67	0.87673	9.278000	0.94968	11.175000	0.88104	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	1.0:0.0:0.0:0.0	15.915	0.79299	909	0.22467	.	.	.	.	.	.	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	4901.08	37	chr13	103066104	.	A	G	4901.08	.	AC=2;AF=0.048;AN=42;DP=858;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;QD=30.07;SOR=0.892	GT:AD:DP:GQ:PL	1/1:0,163:163:99:4929,489,0	20	1	0	0
chr13	110458141	110458141	C	A	exonic	COL4A2-AS2	.	nonsynonymous SNV	COL4A2-AS2:NM_001267044:exon2:c.G218T:p.G73V,	.	.	418	1091	13	0	0	13	0.00592255	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	.	.	.	.	.	.	1.000	N	.	.	.	.	-0.978	T	0.114	T	0.106	1.519	11.03	1.73	1.303	-0.065	6.949	0.026	.	.	.	0.0001	0	0	0	0	0.0004	0	0	0.0001164	18	154602	rs551939475	0.0006	0.0003	0.0006	0.0006	0.0162	0.0005	0.0005	0.0124	0.0111	0.0005	0.0003	0.0011	0	0	0.0162	0.0005	0.0010	0.0004	0.0005	0.0005	0.0005	0.0005	0.0018	0.0004	0.0004	0.0013	0.0011	0.0001	0	0.0018	0.0003	0	0	0.0102	0.0006	0	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	3529.08	63	chr13	110458141	.	C	A	3529.08	.	AC=2;AF=0.048;AN=42;DP=1466;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;QD=32.38;SOR=0.869	GT:AD:DP:GQ:PL	1/1:0,109:109:99:3557,326,0	20	1	0	0
chr13	112547554	112547568	TGGGAAAGTCGCGCG	-	exonic	TUBGCP3	.	nonframeshift deletion	TUBGCP3:NM_001286279:exon10:c.1220_1234del:p.T412_P416del,	.	.	0	82	50	8	86	152	0.286957	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	22322.88	182	chr13	112547538	.	ATGGGAAAGTCGCGCGTGGGAAAGTCGCGCG	ATGGGAAAGTCGCGCG,GTGGGAAAGTCGCGCGTGGGAAAGTCGCGCG,A,*,ATGGGAAAGTCGCGCGTGGGAAAGTCGCGCGTGGGAAAGTCGCGCG	22322.88	.	AC=7,1,1,7,1;AF=0.167,0.024,0.024,0.167,0.024;AN=42;BaseQRankSum=0.234;DP=3259;ExcessHet=2.4516;FS=0.000;InbreedingCoeff=-0.0871;MLEAC=7,1,1,7,1;MLEAF=0.167,0.024,0.024,0.167,0.024;MQ=59.98;MQRankSum=0.00;QD=9.16;ReadPosRankSum=0.134;SOR=0.698	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:63,55,0,0,0,0:118:99:.:.:1982,0,2404,2171,2578,4749,2171,2578,4749,4749,2171,2578,4749,4749,4749,2171,2578,4749,4749,4749,4749	7	0	5	0
chr13	112547538	112547568	ATGGGAAAGTCGCGCGTGGGAAAGTCGCGCG	0	exonic	TUBGCP3	.	.	.	.	.	0	82	50	8	86	152	0.286957	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	22322.88	182	chr13	112547538	.	ATGGGAAAGTCGCGCGTGGGAAAGTCGCGCG	ATGGGAAAGTCGCGCG,GTGGGAAAGTCGCGCGTGGGAAAGTCGCGCG,A,*,ATGGGAAAGTCGCGCGTGGGAAAGTCGCGCGTGGGAAAGTCGCGCG	22322.88	.	AC=7,1,1,7,1;AF=0.167,0.024,0.024,0.167,0.024;AN=42;BaseQRankSum=0.234;DP=3259;ExcessHet=2.4516;FS=0.000;InbreedingCoeff=-0.0871;MLEAC=7,1,1,7,1;MLEAF=0.167,0.024,0.024,0.167,0.024;MQ=59.98;MQRankSum=0.00;QD=9.16;ReadPosRankSum=0.134;SOR=0.698	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:63,55,0,0,0,0:118:99:.:.:1982,0,2404,2171,2578,4749,2171,2578,4749,4749,2171,2578,4749,4749,4749,2171,2578,4749,4749,4749,4749	7	0	5	0
chr13	112547568	112547568	-	TGGGAAAGTCGCGCG	exonic	TUBGCP3	.	nonframeshift insertion	TUBGCP3:NM_001286279:exon10:c.1219_1220insCGCGCGACTTTCCCA:p.P416_M417insTRDFP,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	22322.88	182	chr13	112547538	.	ATGGGAAAGTCGCGCGTGGGAAAGTCGCGCG	ATGGGAAAGTCGCGCG,GTGGGAAAGTCGCGCGTGGGAAAGTCGCGCG,A,*,ATGGGAAAGTCGCGCGTGGGAAAGTCGCGCGTGGGAAAGTCGCGCG	22322.88	.	AC=7,1,1,7,1;AF=0.167,0.024,0.024,0.167,0.024;AN=42;BaseQRankSum=0.234;DP=3259;ExcessHet=2.4516;FS=0.000;InbreedingCoeff=-0.0871;MLEAC=7,1,1,7,1;MLEAF=0.167,0.024,0.024,0.167,0.024;MQ=59.98;MQRankSum=0.00;QD=9.16;ReadPosRankSum=0.134;SOR=0.698	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:63,55,0,0,0,0:118:99:.:.:1982,0,2404,2171,2578,4749,2171,2578,4749,4749,2171,2578,4749,4749,4749,2171,2578,4749,4749,4749,4749	7	0	5	0
chr14	31129185	31129185	C	T	exonic	HECTD1	.	nonsynonymous SNV	HECTD1:NM_015382:exon25:c.G4186A:p.D1396N,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.44	T	0.999	D	0.959	D	0.000	U	1.000	D	0.55	N	1.17	T	-0.985	T	0.155	T	0.162	3.937	20.1	5.52	2.759	7.252	19.821	0.153	0.0083057554313	.	0.000199681	8.28e-06	0	0	0	0	0	0	6.056e-05	1.29e-05	2	154602	rs550393312	3.42e-06	3.42e-06	4.084e-06	2.75e-06	2.987e-05	1e-06	7.3e-07	7.2e-07	2e-07	2.987e-05	0	0	0	0	0	2.698e-06	0	1.159e-05	1.314e-05	1.313e-05	0	2.687e-05	0.0002	2.18e-06	8.2e-07	.	.	0	0	0	0	0	0	0	1.47e-05	0	0.0002	0.435	0.17468	T	0.819	0.22154	T	.	.	.	.	.	.	0.000000	0.84330	U	0.000000	1	0.81001	D	.	.	.	1.07	0.39586	T	0.22	0.14193	N	0.321	0.67995	-0.9852	0.33784	T	0.155	0.48619	T	10	0.1992923	0.35933	T	0.008306	0.22004	T	0.153	0.40148	.	.	0.576976629178	0.57367	0.4966056052572081	0.49581	0.910079391451	0.71022	0.890729427338	0.95351	D	0.010059	0.15652	T	-0.211002	0.19237	T	-0.444012	0.28359	T	0.502391496729159	0.32717	D	0.934107	0.80130	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.382	0.68123	A	.;.;.;.	.;.;.;.	6.554836	0.95395	35	0.99840616976969787	0.92143	0.97840	0.77522	D	AEFDGBCI	0.793613	0.72156	D	0.556034691145632	0.70448	5.503304	0.620390574986159	0.76421	6.488104	1.0	0.98316	0.706548	0.73137	0	0.696144	0.67643	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.52	5.52	0.82153	7.310000	0.78255	7.723000	0.67399	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:1.0:0.0:0.0	19.821	0.96592	600	0.68026	.;.;.;.	.	.	.	.	.	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	2487.98	34	chr14	31129185	.	C	T	2487.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.71;DP=878;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=17.77;ReadPosRankSum=0.868;SOR=0.695	GT:AD:DP:GQ:PL	0/1:60,80:140:99:2502,0,1693	20	0	1	0
chr14	37592451	37592451	G	C	exonic	FOXA1	.	nonsynonymous SNV	FOXA1:NM_004496:exon2:c.C333G:p.S111R,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.35	T	0.232	B	0.382	B	0.661	N	1.000	N	1.895	L	2.05	T	-0.924	T	0.059	T	0.22	2.653	14.83	-0.349	0.054	-2.046	3.418	0.056	0.0374746007558	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.89e-07	6.84e-07	0	1.385e-06	1.163e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.163e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.008	0.58626	D	0.201	0.27503	T	0.232	0.30664	B	0.382	0.43908	B	0.660528	0.10431	N	0.849225	0.999951	0.19072	N	1.445	0.36358	L	2.05	0.20664	T	-1.72	0.40850	N	0.191	0.20925	-0.9244	0.44943	T	0.059	0.24908	T	10	0.1600664	0.30059	T	0.037475	0.57640	D	0.056	0.15993	0.571	0.69431	0.17948927462	0.17512	0.6921162177258938	0.69151	.	.	0.783064603806	0.79391	T	0.393404	0.75282	T	-0.258935	0.13024	T	-0.609719	0.12008	T	0.320598848130091	0.25846	T	0.666133	0.27528	T	0.14048892	0.32411	0.16231567	0.37710	0.14048892	0.32410	0.16231567	0.37709	-9.117	0.68446	D	.	.	0.856	0.80068	P	.	.	0.663633	0.10320	7.051	0.99476763411479407	0.66633	0.08833	0.14703	N	AEFDBHCI	0.090950	0.18425	N	-0.587820531342189	0.19313	1.009832	-0.648516107283873	0.18254	0.9743373	0.9999999807492	0.74766	0.59774	0.34471	0	0.573888	0.26702	0	0.606814	0.37721	0	0.63947	0.58350	0	.	.	4.3	-0.349	0.11983	-1.637000	0.02117	-4.156000	0.02310	0.640000	0.52149	0.000000	0.06391	0.000000	0.08366	0.802000	0.37819	0.0885:0.3084:0.3749:0.2281	3.418	0.06958	649	0.63102	Fork-head 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	1081.98	33	chr14	37592451	.	G	C	1081.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.256;DP=1016;ExcessHet=0.0000;FS=4.216;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.88;ReadPosRankSum=-1.476e+00;SOR=0.354	GT:AD:DP:GQ:PL	0/1:45,39:84:99:1096,0,1343	20	0	1	0
chr14	45137087	45137087	C	T	exonic	FANCM	.	nonsynonymous SNV	FANCM:NM_001308133:exon2:c.C527T:p.T176I	.	.	1	1508	13	0	0	13	0.00429185	.	.	320546	not_provided|not_specified|Spermatogenic_failure_28|Fanconi_anemia|FANCM-related_disorder	MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0054732,MedGen:C4748117,OMIM:618086|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650,Orphanet:84|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.22	T	0.003	B	0.008	B	0.052	N	1.000	N	1.74	L	2.42	T	-1.050	T	0.026	T	0.174	1.314	10.31	3.13	1.209	-0.802	6.779	0.030	.	0.0035	0.00139776	0.0044	0.0004	0.0029	0	0.0141	0.0056	0.0055	0.0015	0.0041526	642	154602	rs77374493	0.0045	0.0045	0.0045	0.0044	0.0056	0.0044	0.0043	0.0046	0.0046	0.0006	0.0023	0.0004	0	0.0122	0.0056	0.0047	0.0044	0.0018	0.0036	0.0036	0.0035	0.0038	0.0048	0.0034	0.0033	0.0044	0.0042	0.0007	0	0.0027	0.0006	0	0.0136	0.0034	0.0048	0.0038	0.0010	0.193	0.20912	T	0.242	0.27145	T	0.0	0.11197	B	0.003	0.13708	B	0.051746	0.22954	N	0.507562	0.999922	0.19486	N	1.115	0.28702	L	2.42	0.15376	T	-3.37	0.66665	D	0.05	0.02179	-1.0502	0.14341	T	0.026	0.11176	T	10	0.008818626	0.00200	T	.	.	.	0.030	0.07022	.	.	0.415947407303	0.41207	0.1712033457664659	0.17040	0.0926538183713	0.10463	0.387260079384	0.23282	T	0.120295	0.44244	T	-0.611287	0.00124	T	-0.649481	0.08990	T	0.0135318982733454	0.00248	T	0.675032	0.28342	T	0.20840895	0.43077	0.21030024	0.45411	0.1945151	0.41205	0.20614702	0.44814	-6.667	0.51561	T	.	.	0.074	0.21125	B	.;.;.	.;.;.	1.413284	0.18288	13.65	0.96756622761729538	0.30983	0.07924	0.13911	N	AEFGBI	0.079030	0.15956	N	-0.418296970843012	0.24827	1.343377	-0.334980538106223	0.26977	1.493823	0.999968038709869	0.48965	0.608746	0.35421	0	0.587265	0.34161	0	0.731467	0.93227	0	0.627883	0.49187	0	.	.	5.39	3.13	0.35090	-0.775000	0.04785	-0.032000	0.12782	0.599000	0.40250	0.000000	0.06391	0.001000	0.17328	0.997000	0.79791	0.4238:0.4845:0.0:0.0918	6.779	0.22823	801	0.44448	.;Helicase/UvrB, N-terminal|Helicase superfamily 1/2, ATP-binding domain|Helicase superfamily 1/2, ATP-binding domain;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.02381	309.98	33	chr14	45137087	.	C	T	309.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.57;DP=735;ExcessHet=0.0000;FS=1.430;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=7.95;ReadPosRankSum=-7.750e-01;SOR=0.992	GT:AD:DP:GQ:PL	0/1:26,13:39:99:324,0,680	20	0	1	0
chr14	55138163	55138163	C	G	exonic	LGALS3	.	nonsynonymous SNV	LGALS3:NM_002306:exon3:c.C137G:p.P46R	.	.	409	1111	2	0	0	2	0.000899281	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	1.0	D	0.997	D	0.024	N	1.000	D	2.815	M	2.28	T	0.481	D	0.671	D	0.738	2.414	14.03	5.34	2.500	3.988	15.956	0.247	0.1104059464	0.0002	.	0.0002	0	0.0007	0	0.0002	0.0003	0.0012	0	0.0002135	33	154602	rs200440596	0.0002	0.0002	0.0002	0.0003	0.0011	0.0002	0.0002	0.0005	0.0003	0	0.0003	0.0003	0	1.885e-05	0.0011	0.0003	0.0002	1.177e-05	0.0001	0.0001	0.0002	8.074e-05	0.0002	8.172e-05	6.728e-05	9.054e-05	7.017e-05	7.239e-05	0	0.0002	0.0003	0	9.406e-05	0	0.0002	0	0	0.0	0.91255	D	0.001	0.83351	D	1.0	0.90584	D	0.997	0.86255	D	0.024465	0.26256	N	0.332388	0.999984	0.54805	D	3.535	0.93119	H	-1.15	0.77964	T	-8.25	0.96899	D	0.71	0.71321	0.481	0.90280	D	0.671	0.88609	D	10	0.47428244	0.60049	T	0.110406	0.78778	D	0.247	0.55478	.	.	0.960189437565	0.95976	0.7937652219850819	0.79329	0.0640153949125	0.07131	0.667726397514	0.62513	T	0.276057	0.91781	T	0.0223149	0.54695	T	0.100254	0.76926	D	0.390549004077911	0.28585	T	0.909209	0.67884	D	0.4680864	0.65173	0.59104675	0.76270	0.4680864	0.65174	0.59104675	0.76271	-13.249	0.90362	D	.	.	0.467	0.64572	A	.;.;.	.;.;.	3.409051	0.47284	22.4	0.9828729407096588	0.39916	0.95994	0.67055	D	AEFDBCI	0.767581	0.70340	D	0.713139066880044	0.80493	7.306512	0.628602271958288	0.77024	6.600742	0.999999999888386	0.74766	0.722319	0.85440	0	0.724815	0.89359	0	0.779548	0.98927	0	0.735409	0.98432	0	.	.	5.34	5.34	0.75982	4.525000	0.60274	7.400000	0.58569	0.599000	0.40250	0.996000	0.39380	0.999000	0.35428	0.165000	0.20815	0.0:1.0:0.0:0.0	15.956	0.79678	888	0.27761	.;.;.	.	.	.	.	.	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	1742.98	34	chr14	55138163	.	C	G	1742.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.371e+00;DP=866;ExcessHet=0.0000;FS=1.361;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.72;ReadPosRankSum=-7.880e-01;SOR=0.853	GT:AD:DP:GQ:PL	0/1:69,68:137:99:1757,0,1904	20	0	1	0
chr14	55436622	55436622	T	C	exonic	TBPL2	.	nonsynonymous SNV	TBPL2:NM_199047:exon2:c.A547G:p.I183V,	.	.	428	1085	9	0	0	9	0.00413034	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.39	T	0.001	B	0.001	B	0.000	N	0.989	N	1.78	L	1.02	T	-1.033	T	0.077	T	0.056	0.805	8.231	0.523	-0.134	2.858	4.703	0.154	0.00739665166023	0.0012	0.00119808	0.0014	0.0003	0.0023	0	0.0008	0.0018	0.0033	0.0004	0.0013454	208	154602	rs145550690	0.0016	0.0016	0.0015	0.0016	0.0073	0.0015	0.0015	0.0055	0.0049	0.0003	0.0024	0.0009	0	0.0012	0.0073	0.0017	0.0015	0.0004	0.0013	0.0013	0.0012	0.0014	0.0023	0.0012	0.0011	0.0017	0.0015	0.0004	0	0.0023	0.0009	0	0.0009	0.0102	0.0018	0.0052	0.0004	0.243	0.17526	T	0.535	0.09931	T	0.001	0.07471	B	0.001	0.04355	B	0.000001	0.84330	N	0.122819	0.989441	0.24295	N	1.43	0.35840	L	1.02	0.40749	T	-0.01	0.07155	N	0.241	0.27197	-1.0328	0.19554	T	0.077	0.30951	T	10	0.008227885	0.00187	T	0.007397	0.19630	T	0.154	0.40340	.	.	0.197625483188	0.19356	0.28908641662893175	0.28821	0.0883002919762	0.09977	0.303474664688	0.10921	T	0.027099	0.19915	T	-0.610941	0.00125	T	-0.656209	0.08524	T	0.0189846946268997	0.00607	T	0.616038	0.23564	T	0.10707245	0.25318	0.0911452	0.21413	0.10707245	0.25318	0.0911452	0.21413	-2.286	0.04479	T	.	.	0.064	0.01715	B	.	.	1.822791	0.23161	15.91	0.65790141536259639	0.07872	0.95282	0.64118	D	AEFDGBI	0.335270	0.43376	N	-0.779401398488174	0.13847	0.6852107	-0.738457756541439	0.16006	0.8446881	0.993435480211755	0.33214	0.446893	0.09132	0	0.547309	0.14657	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	5.82	0.523	0.16255	2.843000	0.47939	0.375000	0.17719	0.519000	0.23678	0.998000	0.41325	0.152000	0.23188	0.971000	0.54645	0.2383:0.1333:0.0:0.6285	4.703	0.12218	414	0.81871	.	.	.	.	.	.	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	1185.98	41	chr14	55436622	.	T	C	1185.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.156e+00;DP=806;ExcessHet=0.0000;FS=3.984;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.86;ReadPosRankSum=1.49;SOR=0.387	GT:AD:DP:GQ:PL	0/1:52,48:100:99:1200,0,1512	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	0/1:45,15:60:90:90,0,945	0	0	21	0
chr14	61322255	61322255	G	A	exonic	PRKCH	.	nonsynonymous SNV	PRKCH:NM_006255:exon1:c.G154A:p.V52M,	.	.	425	1095	2	0	0	2	0.000912409	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	T	0.759	P	0.674	P	0.064	N	1.000	D	1.75	L	-0.41	T	-0.436	T	0.344	T	0.264	3.349	17.28	5.38	2.518	4.110	14.030	0.169	0.0222962463952	0.0003	.	0.0001	0	0.0004	0	0	0.0002	0	0	0.0001488	23	154602	rs148375974	0.0001	0.0001	0.0001	9.764e-05	0.0005	9.334e-05	8.817e-05	0.0002	0.0002	0.0001	0.0003	0.0028	0	0	0.0005	4.586e-05	0.0002	0	0.0002	0.0002	0.0002	0.0001	0.0002	0.0001	8.762e-05	9.064e-05	7.024e-05	0	0	0.0002	0.0023	0	0	0	0.0002	0.0005	0	0.206	0.19927	T	0.202	0.27414	T	0.759	0.43487	P	0.674	0.53247	P	0.063512	0.22019	N	0.319059	0.735056	0.33760	D	1.735	0.44892	L	-0.41	0.69413	T	-0.34	0.13805	N	0.365	0.40665	-0.4361	0.70860	T	0.344	0.70972	T	10	0.047124267	0.03989	T	0.022296	0.45174	T	0.169	0.43123	.	.	0.673641331446	0.67087	0.24251554605195047	0.24165	1.06490229316	0.76599	0.705440104008	0.67931	T	0.127494	0.69413	T	-0.270606	0.11688	T	-0.320506	0.42519	T	0.142343838684458	0.16475	T	0.952605	0.81930	D	0.15044874	0.34249	0.081689864	0.18585	0.15044874	0.34249	0.081689864	0.18585	-6.024	0.46480	T	.	.	0.132	0.28377	B	.;.	.;.	4.244129	0.64366	24.7	0.99816910082613941	0.90061	0.77111	0.37879	D	AEFDGBHCI	0.434706	0.49565	N	0.508355659364332	0.67582	5.100959	0.549957850695702	0.71395	5.648244	0.99999999999207	0.74766	0.65757	0.49021	0	0.52208	0.09955	0	0.619478	0.44681	0	0.56214	0.19341	0	.	.	5.38	5.38	0.77279	3.503000	0.53100	8.666000	0.77991	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:0.849:0.151	14.030	0.64130	330	0.86467	C2 domain|C2 domain|C2 domain;C2 domain|C2 domain|C2 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	4403.98	33	chr14	61322255	.	G	A	4403.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.97;DP=1033;ExcessHet=0.0000;FS=1.377;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.81;ReadPosRankSum=-8.730e-01;SOR=0.803	GT:AD:DP:GQ:PL	0/1:149,170:319:99:4418,0,3709	20	0	1	0
chr14	64158707	64158707	T	C	exonic	SYNE2	.	nonsynonymous SNV	SYNE2:NM_015180:exon86:c.T15875C:p.M5292T	Emery-Dreifuss muscular dystrophy 5, autosomal dominant, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.35	T	0.021	B	0.012	B	0.041	N	1.000	D	1.7	L	1.39	T	-1.084	T	0.073	T	0.364	1.006	9.108	3.35	0.508	0.640	7.200	0.143	0.00538161103081	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1245310548	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.57e-06	6.566e-06	0	1.345e-05	2.412e-05	0	0	.	.	2.412e-05	0	0	0	0	0	0	0	0	0	0.099	0.45039	T	0.026	0.60972	D	0.013	0.16609	B	0.009	0.14300	B	0.041119	0.23984	N	0.401918	0.999988	0.54805	D	1.655	0.42436	L	1.39	0.33842	T	-2.65	0.59710	D	0.474	0.55280	-1.0841	0.06572	T	0.073	0.29675	T	10	0.19718808	0.35641	T	0.005382	0.13801	T	0.143	0.38195	0.536	0.64585	0.319402600006	0.31557	0.3253330187294607	0.32446	0.0539322971594	0.05956	0.529864430428	0.43015	T	0.035396	0.50140	T	-0.123387	0.32572	T	-0.415013	0.31648	T	0.172842237501572	0.18771	T	0.611639	0.23235	T	0.08136348	0.18690	0.15216553	0.35812	0.08136348	0.18690	0.15216553	0.35811	-3.679	0.21014	T	.	.	0.191	0.41000	B	.;.;.;.;.	.;.;.;.;.	1.354212	0.17625	13.27	0.893201424526746	0.18696	0.58238	0.30589	D	AEFGBI	0.052091	0.09265	N	-0.429603788888434	0.24437	1.31946	-0.336983711819935	0.26915	1.489921	0.0805734006329366	0.15850	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.645948	0.59608	0	.	.	5.77	3.35	0.37468	0.797000	0.26660	0.426000	0.18273	0.661000	0.55757	1.000000	0.71638	0.995000	0.32472	1.000000	0.97212	0.0:0.0746:0.1466:0.7788	7.200	0.25051	540	0.73006	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.35	4406.61	113	chr14	64158707	.	T	C	4406.61	.	AC=14;AF=0.350;AN=40;BaseQRankSum=-3.043e+00;DP=2681;ExcessHet=14.4320;FS=209.673;InbreedingCoeff=-0.5275;MLEAC=14;MLEAF=0.350;MQ=60.00;MQRankSum=0.00;QD=2.47;ReadPosRankSum=1.08;SOR=12.830	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:116,32:148:27:.:.:27,0,2440	6	0	14	1
chr14	64589163	64589163	T	C	exonic	PPP1R36	.	nonsynonymous SNV	PPP1R36:NM_172365:exon12:c.T1094C:p.L365S,	.	.	.	.	.	.	.	.	.	.	.	2201535	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0	D	1.0	D	0.984	D	0.036	N	0.643	D	2.25	M	0.52	T	-0.176	T	0.309	T	0.852	3.358	17.31	4.62	2.054	3.304	10.598	0.339	0.0230295761422	.	0.000199681	8.289e-06	9.619e-05	0	0	0	0	0	0	1.29e-05	2	154602	rs200070762	8.224e-06	8.209e-06	8.182e-06	8.265e-06	0.0002	4.39e-06	3.46e-06	0.0001	8.711e-05	0.0002	0	0	0	0	0.0002	0	4.975e-05	0	1.313e-05	1.312e-05	1.285e-05	1.343e-05	2.406e-05	2.18e-06	8.2e-07	.	.	2.406e-05	0	0	0	0	0	0	0	0.0005	0	0.002	0.72154	D	0.002	0.79402	D	1.0	0.90584	D	0.984	0.76113	D	0.035983	0.24577	N	0.256618	0.643177	0.32895	D	2.555	0.74557	M	0.52	0.55266	T	-4.04	0.74427	D	0.72	0.72209	-0.1761	0.78278	T	0.309	0.67967	T	10	0.80769116	0.80089	D	0.02303	0.45967	T	0.339	0.66106	.	.	0.790669808946	0.78873	0.896592186761227	0.89630	0.723985850288	0.62362	0.500594973564	0.38911	T	0.086956	0.37838	T	0.0795077	0.61982	D	0.0585777	0.74150	D	0.913863718509674	0.57029	D	0.650635	0.26150	T	0.41457233	0.61729	0.42585787	0.66382	0.41457233	0.61729	0.42585787	0.66382	-3.674	0.18935	T	.	.	0.911	0.83549	P	.	.	4.597455	0.72782	25.9	0.99828306677313317	0.91026	0.78781	0.38921	D	AEFGBI	0.259454	0.37779	N	0.586430195154187	0.72326	5.788322	0.519306060458552	0.69289	5.339332	0.901348203458025	0.26099	0.615465	0.37627	0	0.573888	0.26702	0	0.658983	0.55881	0	0.421255	0.06892	1	.	.	4.62	4.62	0.56946	3.513000	0.53172	7.760000	0.68282	0.645000	0.52629	0.982000	0.35529	1.000000	0.68203	0.921000	0.45669	0.0:0.0:0.0:1.0	10.598	0.44537	433	0.80627	.	.	.	.	.	.	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	1114.98	33	chr14	64589163	.	T	C	1114.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.38;DP=788;ExcessHet=0.0000;FS=4.380;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.82;ReadPosRankSum=0.226;SOR=1.280	GT:AD:DP:GQ:PL	0/1:48,39:87:99:1129,0,1221	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	1/1:0,7,0:7:21:297,21,0,297,21,297	0	19	0	0
chr14	73251013	73251013	C	T	exonic	PAPLN	.	nonsynonymous SNV	PAPLN:NM_001365907:exon6:c.C572T:p.A191V	.	.	410	1109	1	2	0	5	0.00224921	.	.	2199245	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.3	T	0.003	B	0.016	B	.	.	1.000	N	0.095	N	0.65	T	-1.027	T	0.102	T	0.197	1.122	9.574	2.46	0.545	0.830	4.788	0.034	0.0239117969001	0.0006	0.000798722	0.0003	0.0019	0.0003	0	0	0.0002	0	0	0.0002975	46	154602	rs146070218	0.0002	0.0002	0.0002	0.0002	0.0019	0.0002	0.0001	0.0015	0.0014	0.0019	0.0007	7.675e-05	2.52e-05	0	0.0009	0.0001	0.0004	0	0.0006	0.0006	0.0006	0.0005	0.0015	0.0005	0.0004	0.0012	0.0011	0.0015	0	0.0006	0	0	0	0	0.0001	0.0009	0	0.466	0.17761	T	0.675	0.08245	T	0.003	0.11197	B	0.016	0.17743	B	.	.	.	.	0.999985	0.18198	N	0.845	0.21182	L	-0.06	0.63568	T	-1.49	0.36385	N	0.161	0.23506	-1.0269	0.21462	T	0.102	0.37694	T	9	0.008461833	0.00192	T	0.023912	0.46889	T	0.034	0.08419	.	.	0.159798565429	0.15598	0.3991544392045046	0.39830	0.226942445417	0.25244	0.447270929813	0.31571	T	0.004992	0.04418	T	-0.46778	0.00878	T	-0.451974	0.27480	T	0.00497181304367381	0.00054	T	0.675332	0.28483	T	0.04115766	0.06011	0.054247417	0.09294	0.04115766	0.06010	0.054247417	0.09293	-6.92	0.53447	T	.	.	0.127	0.34602	B	.;.;.;.	.;.;.;.	2.157853	0.27490	17.48	0.96402277318971319	0.29692	0.28675	0.23618	N	AEFDGBI	0.056796	0.10529	N	-0.551911935532912	0.20425	1.076559	-0.400235491153791	0.24991	1.371699	0.999820056958063	0.43622	0.695654	0.57023	0	0.633656	0.55848	0	0.723109	0.80598	0	0.655142	0.61905	0	.	.	4.33	2.46	0.29032	0.969000	0.28967	1.693000	0.28083	0.585000	0.30472	0.727000	0.28892	0.994000	0.32194	0.687000	0.33748	0.0:0.624:0.1791:0.197	4.788	0.12604	758	0.50837	ADAM-TS Spacer 1;.;ADAM-TS Spacer 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	512.98	34	chr14	73251013	.	C	T	512.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.26;DP=778;ExcessHet=0.0000;FS=1.228;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.66;ReadPosRankSum=0.561;SOR=1.078	GT:AD:DP:GQ:PL	0/1:26,18:44:99:527,0,715	20	0	1	0
chr14	74551138	74551138	G	A	exonic	LTBP2	.	nonsynonymous SNV	LTBP2:NM_000428:exon7:c.C1612T:p.R538W,	Glaucoma 3, primary congenital, D;Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma, Autosomal recessive;Weill-Marchesani syndrome 3, recessive, Autosomal recessive	.	0	1515	6	1	0	8	0.00263331	.	.	872607	not_provided|Glaucoma_3,_primary_congenital,_D|Weill-Marchesani_syndrome	MedGen:C3661900|MONDO:MONDO:0013122,MedGen:C2751316,OMIM:613086,Orphanet:98976|MONDO:MONDO:0018096,MedGen:C0265313,OMIM:PS277600,Orphanet:3449	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.01	D	0.998	D	0.609	P	0.143	N	0.985	N	1.7	L	1.63	T	-1.053	T	0.070	T	0.432	3.213	16.76	3.81	1.179	0.175	10.650	0.091	0.0312128160478	0.0002	0.000798722	0.0003	0.0001	0.0010	0	0	0.0002	0.0023	0.0002	0.0002781	43	154602	rs147534770	0.0002	0.0002	0.0002	0.0002	0.0042	0.0002	0.0002	0.0029	0.0024	0.0002	0.0006	3.826e-05	2.519e-05	0	0.0042	0.0002	0.0005	0.0001	0.0002	0.0002	0.0001	0.0002	0.0007	0.0001	9.693e-05	0.0004	0.0003	2.405e-05	0	0.0007	0	0	0	0.0034	0.0001	0.0005	0.0004	0.003	0.68238	D	0.007	0.69154	D	0.998	0.73220	D	0.609	0.51053	P	0.142573	0.18239	N	0.401678	0.98547	0.24708	N	2.28	0.64929	M	1.63	0.28002	T	-2.24	0.50175	N	0.312	0.35194	-1.0530	0.13574	T	0.070	0.28642	T	10	0.013666779	0.00289	T	0.031213	0.53353	D	0.091	0.26358	.	.	0.585352569408	0.58208	0.46336771253725717	0.46255	0.446302142319	0.44507	0.304472386837	0.11072	T	0.32047	0.69165	T	-0.379279	0.03149	T	-0.424004	0.30618	T	0.0791342745919371	0.09875	T	0.89971	0.66592	D	0.07708175	0.17472	0.09554242	0.22664	0.07708175	0.17472	0.09554242	0.22664	-6.096	0.47076	T	.	.	0.087	0.12844	B	.;.	.;.	4.799848	0.77985	26.8	0.99912338966181358	0.98167	0.34373	0.25052	N	AEFDBI	0.367151	0.45471	N	-0.039552492738379	0.40071	2.373464	-0.144513172042635	0.33618	1.925027	0.999837511534448	0.43792	0.706548	0.73137	0	0.59043	0.45803	0	0.527494	0.11647	0	0.714379	0.83352	0	.	.	4.72	3.81	0.43020	0.297000	0.18856	8.569000	0.77598	0.676000	0.76740	0.000000	0.06391	1.000000	0.68203	0.562000	0.30459	0.0:0.194:0.806:0.0	10.650	0.44838	257	0.89904	.;.	.	.	.	.	.	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	2681.11	33	chr14	74551138	.	G	A	2681.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=2.35;DP=881;ExcessHet=0.1072;FS=5.886;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=13.47;ReadPosRankSum=1.65;SOR=0.993	GT:AD:DP:GQ:PL	0/1:46,50:96:99:1372,0,1081	19	0	2	0
chr14	75775497	75775497	G	A	exonic	TTLL5	.	nonsynonymous SNV	TTLL5:NM_015072:exon22:c.G2150A:p.R717H,	Cone-rod dystrophy 19, Autosomal recessive	.	427	1081	14	0	0	14	0.00643382	.	.	948686	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.06	T	0.978	D	0.411	B	0.000	D	1.000	D	1.3	L	3.6	T	-1.081	T	0.084	T	0.925	3.194	16.69	5.65	2.824	5.795	13.591	0.276	0.0152049880036	.	.	0.0004	0	0.0002	0	0	0.0006	0.0033	0.0004	0.0003234	50	154602	rs201405297	0.0002	0.0002	0.0002	0.0002	0.0050	0.0002	0.0002	0.0036	0.0031	2.99e-05	0.0002	7.668e-05	0	1.873e-05	0.0050	0.0002	0.0005	0.0001	0.0001	0.0001	9.022e-05	0.0001	0.0002	7.604e-05	6.304e-05	0.0001	0.0001	0	0	6.567e-05	0	0	0	0.0034	0.0002	0.0005	0	0.078	0.33923	T	0.059	0.45961	T	0.645	0.58756	P	0.137	0.44827	B	0.000007	0.62929	D	0.148296	0.978511	0.81001	D	1.78	0.46185	L	3.49	0.36691	T	-3.26	0.69357	D	0.211	0.37820	-1.0806	0.07233	T	0.084	0.32900	T	10	0.14416781	0.27363	T	0.015205	0.35810	T	0.276	0.59253	0.528	0.63412	0.213573922156	0.20996	0.3055738978084032	0.30470	0.194651173634	0.21805	0.700544834137	0.67222	T	0.195893	0.61963	T	-0.0213272	0.48664	T	0.0833071	0.75798	D	0.129002347588539	0.15289	T	0.950905	0.86318	D	0.11419105	0.26961	0.11841685	0.28584	0.11419105	0.26960	0.11841685	0.28583	-8.462	0.64177	D	0.5412629994834364	0.61088	0.471	0.63234	A	.;.;.;.	.;.;.;.	4.590897	0.72620	25.9	0.99809513919672088	0.89353	0.98088	0.79496	D	AEFGBI	0.672222	0.63870	D	0.354883459339965	0.58999	4.075751	0.478985847315672	0.66599	4.973146	0.995669873958673	0.34254	0.706548	0.73137	0	0.653731	0.59785	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.65	5.65	0.86881	5.640000	0.67547	9.837000	0.81899	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.924000	0.46004	0.074:0.0:0.926:0.0	13.591	0.61430	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	1	0	0	0	0	0	0	0.02381	1401.98	38	chr14	75775497	.	G	A	1401.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.041e+00;DP=820;ExcessHet=0.0000;FS=3.416;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.41;ReadPosRankSum=1.38;SOR=0.452	GT:AD:DP:GQ:PL	0/1:50,63:113:99:1416,0,1096	20	0	1	0
chr14	76177923	76177923	C	T	exonic	GPATCH2L	.	stopgain	GPATCH2L:NM_017972:exon6:c.C1084T:p.R362X	.	.	469	1019	30	4	0	38	0.0183044	.	.	2810561	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	1	T	.	.	.	.	.	.	1.000	D	.	.	.	.	.	.	.	.	.	5.654	36	4.32	1.323	2.065	12.347	.	.	0.0035	0.00359425	0.0045	0.0017	0.0049	0	0.0003	0.0053	0.0166	0.0061	0.0043855	678	154602	rs117516637	0.0042	0.0043	0.0040	0.0044	0.0327	0.0041	0.0041	0.0288	0.0273	0.0013	0.0062	0.0080	0	0.0005	0.0327	0.0040	0.0062	0.0060	0.0038	0.0038	0.0040	0.0037	0.0077	0.0036	0.0035	0.0066	0.0062	0.0011	0	0.0077	0.0095	0.0002	0	0.0306	0.0049	0.0061	0.0060	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.408	0.44857	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.303757	0.08310	T	-0.206491	0.54031	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.	.;.	3.767942	0.54107	23.4	0.9969627417015734	0.80316	0.92029	0.54788	D	AEFGBI	0.113998	0.22470	N	-0.146814314135127	0.35369	2.030754	-0.0591147514923771	0.37098	2.167655	0.999986360647847	0.51787	0.651	0.46895	0	0.708844	0.79440	0	0.670488	0.60580	0	0.528226	0.09195	0	.	.	5.2	4.32	0.50899	2.830000	0.47837	4.035000	0.41373	-0.176000	0.10722	1.000000	0.71638	1.000000	0.68203	0.968000	0.53726	0.0:0.9213:0.0:0.0787	12.347	0.54450	604	0.67577	.;.	.	.	.	.	.	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	1499.11	36	chr14	76177923	.	C	T	1499.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=3.71;DP=822;ExcessHet=0.1072;FS=5.553;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=10.27;ReadPosRankSum=0.433;SOR=1.226	GT:AD:DP:GQ:PL	0/1:58,28:86:99:740,0,1471	19	0	2	0
chr14	77475921	77475921	G	A	exonic	ISM2	.	nonsynonymous SNV	ISM2:NM_199296:exon7:c.C1390T:p.R464C,	.	.	433	1084	5	0	0	5	0.00230097	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.949	D	0.000	D	1.000	D	2.655	M	1.72	T	-0.578	T	0.228	T	0.511	2.731	15.09	4.85	2.247	2.882	13.007	0.289	0.0592546295789	0.0002	0.000998403	0.0008	0.0001	8.752e-05	0	0	0.0002	0.0012	0.0050	0.0006727	104	154602	rs202155629	0.0004	0.0004	0.0003	0.0006	0.0053	0.0004	0.0004	0.0049	0.0047	0	6.713e-05	0.0013	0	0	0.0012	8.905e-05	0.0006	0.0053	0.0003	0.0003	0.0002	0.0003	0.0046	0.0002	0.0002	0.0031	0.0026	7.216e-05	0	0	0.0012	0.0002	0	0	0.0001	0	0.0046	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.949	0.68658	D	0.000049	0.53742	D	0.119662	1	0.81001	D	2.44	0.70756	M	1.35	0.34648	T	-6.43	0.91311	D	0.538	0.56576	-0.5781	0.65692	T	0.228	0.59359	T	10	0.025726944	0.00758	T	0.059255	0.67601	D	0.289	0.60808	.	.	0.443388199986	0.43959	0.5617114619597344	0.56098	0.651761740419	0.58396	0.299870371819	0.10381	T	0.245535	0.61485	T	-0.368843	0.03653	T	-0.301641	0.44553	T	0.115834470832458	0.14017	T	0.873913	0.58386	D	0.45950755	0.64640	0.31265455	0.57266	0.45950755	0.64641	0.31265455	0.57265	-9.82	0.72827	D	.	.	0.258	0.49295	B	.	.	4.246816	0.64428	24.7	0.99913866907860416	0.98238	0.94339	0.60850	D	AEFDBI	0.676495	0.64152	D	0.51280523560312	0.67845	5.13645	0.408171735808453	0.62071	4.416779	0.999321837753103	0.39149	0.497415	0.19182	0	0.547309	0.14657	0	0.573078	0.19857	0	0.542086	0.14980	0	.	.	4.85	4.85	0.62375	3.695000	0.54481	3.395000	0.38093	0.676000	0.76740	1.000000	0.71638	0.998000	0.33993	0.008000	0.08271	0.0:0.0:0.8385:0.1615	13.007	0.58115	826	0.39940	AMOP domain|AMOP domain|AMOP 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	2127.98	42	chr14	77475921	.	G	A	2127.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.590e-01;DP=951;ExcessHet=0.0000;FS=2.284;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.89;ReadPosRankSum=-1.137e+00;SOR=0.514	GT:AD:DP:GQ:PL	0/1:55,71:126:99:2142,0,1514	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	0/1:92,37:143:8:8,0,1381	5	0	16	0
chr14	81498041	81498041	T	C	exonic	SEL1L	.	nonsynonymous SNV	SEL1L:NM_005065:exon10:c.A979G:p.S327G,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.24	T	0.009	B	0.007	B	0.000	D	1.000	D	1.175	L	1.51	T	-1.110	T	0.067	T	0.441	3.311	17.13	5.55	2.330	7.490	15.853	0.089	0.0097409858881	.	.	8.346e-06	0	0	0	0	0	0	6.269e-05	6.5e-06	1	154602	rs758543546	2.74e-06	2.736e-06	2.726e-06	2.754e-06	2.331e-05	6.4e-07	4.3e-07	3.87e-06	1.45e-06	0	2.26e-05	0	0	0	0	8.998e-07	0	2.331e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.107	0.29554	T	0.181	0.29346	T	0.009	0.15093	B	0.007	0.12992	B	0.000000	0.84330	D	0.041854	1	0.81001	D	1.43	0.35840	L	1.51	0.30937	T	-1.73	0.41046	N	0.55	0.57604	-1.1102	0.03053	T	0.067	0.27434	T	10	0.23862216	0.40986	T	0.009741	0.25427	T	0.089	0.25827	0.361	0.36548	0.117191471859	0.11215	0.29633678364765675	0.29546	0.439996960147	0.44017	0.784582614899	0.79620	T	0.21204	0.57297	T	-0.165905	0.25855	T	-0.375458	0.36252	T	0.379170506543518	0.28151	T	0.909909	0.68110	D	0.27023587	0.50095	0.25670588	0.51375	0.27023587	0.50095	0.25670588	0.51374	-8.638	0.65339	D	.	.	0.101	0.17360	B	.	.	3.428120	0.47631	22.5	0.99469834997112316	0.66259	0.99734	0.99061	D	AEFBI	0.884688	0.81459	D	0.0523880511124764	0.44251	2.702674	0.252424865481983	0.52788	3.451253	0.999999896608693	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.55	5.55	0.83298	5.955000	0.70026	7.870000	0.71911	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.983000	0.59808	0.0:0.0:0.0:1.0	15.853	0.78727	805	0.43675	.	.	.	.	.	.	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	1094.98	33	chr14	81498041	.	T	C	1094.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=5.04;DP=772;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.88;ReadPosRankSum=-5.890e-01;SOR=0.744	GT:AD:DP:GQ:PL	0/1:50,35:85:99:1109,0,1331	20	0	1	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	0/1:22,12:34:58:58,0,417	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	1/3:0,27,0,42,0,0,0:69:99:.:.:2702,1442,1337,2630,1473,2737,1025,0,1193,1189,2630,1473,2737,1193,2737,2630,1473,2737,1193,2737,2737,2630,1473,2737,1193,2737,2737,2737	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	0/1:74,37:111:99:.:.:547,0,2099	0	0	21	0
chr14	94497803	94497803	C	G	exonic	SERPINA12	.	nonsynonymous SNV	SERPINA12:NM_001304461:exon2:c.G595C:p.G199R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.52	T	0.172	B	0.115	B	0.252	N	1.000	N	0.73	N	-2.28	D	-0.740	T	0.386	T	0.255	0.918	8.739	2.68	0.699	-0.025	6.189	0.145	0.0338676746747	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.857e-07	6.84e-07	1.364e-06	0	2.267e-05	0	0	.	.	0	2.267e-05	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.298	0.14595	T	0.54	0.09760	T	0.172	0.28767	B	0.115	0.31843	B	0.251813	0.15493	N	0.613802	1	0.08975	N	1.43	0.35840	L	-2.28	0.87512	D	-2.7	0.57599	D	0.145	0.14622	-0.7398	0.58463	T	0.386	0.74150	T	10	0.071498126	0.10548	T	0.033868	0.55283	D	0.145	0.38592	0.491	0.57732	0.296329037015	0.29243	0.6547714582531228	0.65413	0.17525157231	0.19731	0.369718432426	0.20792	T	0.047171	0.27643	T	-0.126477	0.32067	T	-0.336586	0.40731	T	0.715756177902222	0.41485	D	0.756024	0.37907	T	0.38583905	0.59736	0.29259723	0.55287	0.38583905	0.59736	0.29259723	0.55286	-2.678	0.07120	T	.	.	0.263	0.53064	B	.;.	.;.	2.036488	0.25887	16.92	0.96925687929522253	0.31636	0.12320	0.17196	N	AEFCI	0.146063	0.26942	N	-0.75468411629497	0.14505	0.7231708	-0.729290243828485	0.16234	0.8577662	0.0138235968800036	0.12515	0.487112	0.14033	0	0.59043	0.45803	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.49	2.68	0.30839	-0.429000	0.07051	0.818000	0.21820	0.599000	0.40250	0.000000	0.06391	0.002000	0.18203	0.780000	0.36908	0.0:0.5781:0.133:0.2889	6.189	0.19728	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	0.1	1176.97	38	chr14	94497803	.	C	G	1176.97	.	AC=3;AF=0.100;AN=30;BaseQRankSum=-4.971e+00;DP=1771;ExcessHet=0.3300;FS=355.698;InbreedingCoeff=-0.1667;MLEAC=3;MLEAF=0.100;MQ=60.00;MQRankSum=0.00;QD=3.52;ReadPosRankSum=-5.900e-02;SOR=9.087	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:74,12:101:99:.:.:409,0,2104	12	0	3	6
chr14	103110131	103110131	G	A	exonic	EXOC3L4	.	nonsynonymous SNV	EXOC3L4:NM_001077594:exon11:c.G2077A:p.G693R,	.	.	416	1104	2	0	0	2	0.000904977	.	.	2340521	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.12	T	0.005	B	0.005	B	0.841	N	1.000	N	0.69	N	3.45	T	-0.940	T	0.012	T	0.312	0.099	4.536	-0.478	-0.088	-1.277	4.173	0.023	0.00529602056587	.	0.000399361	0.0004	0.0012	0	0	0	0.0003	0	0.0005	0.0001294	20	154602	rs544292874	0.0002	0.0002	0.0002	0.0002	0.0018	0.0001	0.0001	0.0010	0.0007	0.0007	0.0002	0	5.447e-05	2.097e-05	0.0018	0.0001	0.0003	0.0004	0.0003	0.0003	0.0002	0.0003	0.0006	0.0002	0.0002	0.0004	0.0003	0.0006	0	6.532e-05	0	0	9.406e-05	0	0.0002	0.0005	0.0004	0.383	0.11085	T	0.604	0.07842	T	0.005	0.12996	B	0.005	0.11217	B	0.840829	0.09035	N	0.903783	1	0.08975	N	-0.41	0.02942	N	3.45	0.05311	T	-0.89	0.24026	N	0.076	0.05037	-0.9400	0.42616	T	0.012	0.04510	T	10	0.008559555	0.00194	T	0.005296	0.13525	T	0.023	0.04649	0.53	0.63707	0.0611884634855	0.05136	0.2001019717559939	0.19927	0.0353503300704	0.03728	0.414136588573	0.27029	T	0.002777	0.02166	T	-0.563002	0.00244	T	-0.665762	0.07882	T	0.00360662278897573	0.00038	T	0.505949	0.15996	T	0.060816284	0.12522	0.050978005	0.08110	0.060816284	0.12522	0.050978005	0.08110	-2.844	0.08595	T	.	.	0.098	0.16054	B	.	.	-0.571347	0.01651	0.116	0.7365911126912903	0.10408	0.00066	0.00474	N	AEFDGBHCI	0.069032	0.13647	N	-1.27447470101904	0.03985	0.1790637	-1.33442070178402	0.03993	0.187417	0.999999999999899	0.74766	0.615755	0.39536	0	0.232529	0.04832	2	0.587068	0.30358	0	0.526803	0.08958	0	.	.	3.35	-0.478	0.11490	-2.553000	0.01002	-2.075000	0.04251	-1.588000	0.00909	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.3297:0.3701:0.3002:0.0	4.173	0.09800	643	0.63827	.	.	.	.	.	.	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	934.98	42	chr14	103110131	.	G	A	934.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.10;DP=1349;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.84;ReadPosRankSum=0.312;SOR=0.703	GT:AD:DP:GQ:PL	0/1:45,34:79:99:949,0,1181	20	0	1	0
chr14	103679432	103679432	C	T	exonic	KLC1	.	nonsynonymous SNV	KLC1:NM_001130107:exon13:c.C1537T:p.P513S	.	.	.	.	.	.	.	.	.	.	.	3265455	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.47	T	0.997	D	0.986	D	0.000	D	1.000	D	0.09	N	-0.26	T	0.061	D	0.587	D	0.696	2.638	14.78	5.03	1.454	2.021	16.817	0.078	0.0567546265188	7.7e-05	.	4.947e-05	0	8.646e-05	0	0	0	0.0011	0.0002	3.88e-05	6	154602	rs373867965	3.762e-05	3.762e-05	3.403e-05	4.125e-05	0.0009	2.959e-05	2.655e-05	0.0003	0.0002	0	0	0	2.519e-05	0	0.0009	2.248e-05	0.0001	0.0002	1.973e-05	1.97e-05	3.856e-05	0	0.0002	5.24e-06	2.46e-06	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.94e-05	0	0.0002	0.751	0.06935	T	0.753	0.05958	T	0.997	0.70673	D	0.986	0.76916	D	0.000002	0.62929	D	0.102692	0.999969	0.52935	D	1.395	0.35261	L	-1.01	0.86415	T	0.05	0.09460	N	0.651	0.68082	0.061	0.83455	D	0.587	0.85197	D	10	0.08030257	0.13019	T	0.056755	0.66719	D	0.305	0.62620	.	.	0.813289413075	0.81153	0.773326610681536	0.77282	0.381154881864	0.39479	0.412983864546	0.26870	T	0.110603	0.42543	T	-0.0450011	0.45204	T	-0.0102686	0.69667	D	0.0673938021063805	0.08280	T	0.914509	0.82682	D	0.12787254	0.29911	0.16168977	0.37596	0.12787254	0.29911	0.16168977	0.37595	-4.251	0.30082	T	.	.	0.084	0.12797	B	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	2.752714	0.36087	20.2	0.98593738135813891	0.43414	0.57169	0.30306	D	ALL	0.529308	0.55047	D	-0.235332966571469	0.31693	1.779692	-0.0257776918807201	0.38554	2.273134	0.999999999999861	0.74766	0.675202	0.55065	0	0.67197	0.64623	0	0.702456	0.68683	0	0.636	0.56748	0	.	.	5.94	5.03	0.67015	2.076000	0.41172	3.947000	0.40646	0.599000	0.40250	0.943000	0.32764	1.000000	0.68203	0.997000	0.79791	0.0:0.8713:0.1287:0.0	16.817	0.85599	878	0.29785	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	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	1150.98	39	chr14	103679432	.	C	T	1150.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.45;DP=890;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.23;ReadPosRankSum=-1.740e-01;SOR=0.648	GT:AD:DP:GQ:PL	0/1:43,44:87:99:1165,0,1046	20	0	1	0
chr14	104707532	104707537	CCCCAC	-	exonic	INF2	.	nonframeshift deletion	INF2:NM_001031714:exon8:c.1265_1270del:p.P427_P428del	Charcot-Marie-Tooth disease, dominant intermediate E, Autosomal dominant;Glomerulosclerosis, focal segmental, 5	.	83	1105	145	104	85	438	0.137729	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	15742.8	47	chr14	104707525	.	ACCCCACCCCCAC	A,ACCCCAC	15742.8	.	AC=10,4;AF=0.238,0.095;AN=42;BaseQRankSum=0.324;DP=1468;ExcessHet=0.0509;FS=2.176;InbreedingCoeff=0.3577;MLEAC=10,4;MLEAF=0.238,0.095;MQ=60.00;MQRankSum=0.00;QD=30.55;ReadPosRankSum=1.57;SOR=0.392	GT:AD:DP:GQ:PL	0/1:6,33,0:39:99:1367,0,126,1385,231,1615	11	3	4	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	1|1:0,189,0:189:99:1|1:104946204_C_T:8505,569,0,8505,569,8505:104946204	1	7	12	0
chr14	104953797	104953797	C	T	exonic	AHNAK2	.	nonsynonymous SNV	AHNAK2:NM_001350929:exon7:c.G1354A:p.D452N	.	.	411	1040	68	3	0	74	0.0343547	.	.	2807606	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.49	T	0.021	B	0.032	B	.	.	1.000	N	0	N	4.03	T	-0.910	T	0.003	T	0.056	2.719	15.05	-3.51	-1.054	0.094	3.143	0.019	.	0.0069	0.00798722	0.0082	0.0015	0.0071	0	0.0005	0.0101	0.0111	0.0130	0.0078718	1217	154602	rs45448397	0.0073	0.0073	0.0069	0.0077	0.0406	0.0072	0.0071	0.0363	0.0347	0.0022	0.0066	0.0321	7.557e-05	0.0007	0.0406	0.0066	0.0105	0.0137	0.0067	0.0067	0.0067	0.0066	0.0110	0.0063	0.0062	0.0097	0.0092	0.0018	0	0.0110	0.0343	0.0006	0.0006	0.0306	0.0083	0.0114	0.0104	0.842	0.02796	T	0.408	0.14633	T	0.021	0.18474	B	0.032	0.22131	B	.	.	.	.	1	0.08975	N	0	0.06538	N	4.03	0.03149	T	-0.08	0.08187	N	0.1	0.08227	-0.9097	0.46891	T	0.003	0.00832	T	9	0.0041176975	0.00081	T	.	.	.	0.019	0.03383	.	.	0.0297737177859	0.01360	0.0316760095331914	0.03116	.	.	0.185123771429	0.00150	T	0.022655	0.17431	T	-0.727118	0.00025	T	-0.8062	0.01752	T	0.00461407943591834	0.00049	T	0.309269	0.05988	T	0.016435066	0.00197	0.024356974	0.00454	0.016435066	0.00197	0.024356974	0.00454	-4.588	0.32020	T	.	.	0.109	0.20934	B	.	.	-0.342790	0.02437	0.277	0.97984752298087319	0.37356	0.08243	0.14197	N	AEFDBI	0.071796	0.14307	N	-1.45363581998287	0.02188	0.09635179	-1.48412917277304	0.02474	0.1138519	0.07631154992444	0.15723	0.706548	0.73137	0	0.588015	0.36545	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	4.96	-3.51	0.04397	-1.192000	0.03161	-2.796000	0.03352	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.105:0.2143:0.4064:0.2743	3.143	0.06076	982	0.03397	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	4402.11	72	chr14	104953797	.	C	T	4402.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=2.31;DP=2099;ExcessHet=0.1072;FS=5.847;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=11.23;ReadPosRankSum=-5.180e-01;SOR=0.884	GT:AD:DP:GQ:PL	0/1:98,85:183:99:2235,0,2527	19	0	2	0
chr15	20534613	20534613	C	0	exonic	GOLGA6L6	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	679.27	87	chr15	20534613	.	C	*,T	679.27	.	AC=7,3;AF=0.175,0.075;AN=40;BaseQRankSum=-3.180e-01;DP=2018;ExcessHet=6.1002;FS=0.000;InbreedingCoeff=-0.3332;MLEAC=7,3;MLEAF=0.175,0.075;MQ=54.83;MQRankSum=0.894;QD=0.62;ReadPosRankSum=2.91;SOR=0.709	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:13,11,17:41:19:.:.:404,62,684,0,19,711	10	0	7	1
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|1:11,12,0:23:99:0|1:20534663_G_GC:289,0,395,326,423,749:20534663	7	0	1	1
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|2:11,0,12:23:99:0|1:20534663_G_GC:289,326,749,0,423,395:20534663	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|2:11,0,10:21:99:0|1:20534663_G_GC:253,290,714,0,423,399:20534663	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|2:11,0,7:18:99:0|1:20534663_G_GC:216,253,676,0,423,404:20534663	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|1:8,5,0:13:99:0|1:20534663_G_GC:182,0,326,210,341,551:20534663	6	0	1	2
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	1/1:0,23:23:69:711,69,0	1	16	3	1
chr15	22769367	22769367	T	C	exonic	GOLGA6L7	.	unknown	UNKNOWN,	.	.	777	727	2	7	9	25	0.0108844	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1327727541	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0062	0.0066	0.0062	0.0062	0.0150	0.0057	0.0056	0.0135	0.0130	0.0150	0.0021	0.0058	0.0068	0.0008	0.0008	0	0.0028	0.0050	0.0150	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1944	174.63	3	chr15	22769367	.	T	C,*	174.63	.	AC=2,5;AF=0.056,0.139;AN=36;BaseQRankSum=-9.670e-01;DP=125;ExcessHet=0.0107;FS=1.882;InbreedingCoeff=0.2868;MLEAC=2,5;MLEAF=0.056,0.139;MQ=57.17;MQRankSum=1.28;QD=6.47;ReadPosRankSum=1.01;SOR=0.780	GT:AD:DP:GQ:PL	2/2:0,0,7:7:22:265,265,265,22,22,0	13	0	2	3
chr15	22769367	22769367	T	0	exonic	GOLGA6L7	.	.	.	.	.	777	727	2	7	9	25	0.0108844	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1944	174.63	3	chr15	22769367	.	T	C,*	174.63	.	AC=2,5;AF=0.056,0.139;AN=36;BaseQRankSum=-9.670e-01;DP=125;ExcessHet=0.0107;FS=1.882;InbreedingCoeff=0.2868;MLEAC=2,5;MLEAF=0.056,0.139;MQ=57.17;MQRankSum=1.28;QD=6.47;ReadPosRankSum=1.01;SOR=0.780	GT:AD:DP:GQ:PL	2/2:0,0,7:7:22:265,265,265,22,22,0	13	0	2	3
chr15	22866228	22866228	C	T	exonic	NIPA2	.	nonsynonymous SNV	NIPA2:NM_001008894:exon5:c.C407T:p.A136V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.997	D	0.000	D	1.000	D	3.235	M	-2.76	D	0.959	D	0.889	D	0.952	4.931	28.6	5.65	2.824	9.731	20.096	0.933	0.0320281212041	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.419	0.10083	T	0.433	0.13872	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-2.49	0.89145	D	-2.57	0.59389	D	0.814	0.81360	.	.	.	.	.	.	.	0.79253083	0.78785	D	.	.	.	.	.	.	.	.	.	0.9763907044085185	0.97629	.	.	.	.	.	0.692902	0.91087	D	.	.	.	.	.	.	.	.	.	0.945605	0.81930	D	.	.	.	.	.	.	.	.	-8.214	0.62519	D	0.21806053216336704	0.29358	0.239	0.51041	B	.;.;.;.;.	.;.;.;.;.	4.584010	0.72443	25.8	.	.	.	.	.	.	0.919429	0.88994	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.842000	0.85116	7.707000	0.66598	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	.	.	.	748	0.52143	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1434.98	38	chr15	22866228	.	C	T	1434.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.358e+00;DP=814;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.49;ReadPosRankSum=-5.250e-01;SOR=0.620	GT:AD:DP:GQ:PL	0/1:44,55:99:99:1449,0,1234	20	0	1	0
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|2:81,0,52:133:99:1|0:23361377_G_A:1941,2184,5437,0,3253,3095:23361377	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|1:81,52,0:133:99:1|0:23361377_G_A:1941,0,3095,2184,3253,5437:23361377	11	0	6	0
chr15	23364400	23364400	C	A	exonic	GOLGA8H;GOLGA8S	.	nonsynonymous SNV	GOLGA8S:NM_001355465:exon15:c.C766A:p.Q256K,	.	.	48	1435	31	2	6	41	0.0120482	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00481352493947	.	0.00299521	0.0033	0.0060	0.0025	0.0011	0.0026	0.0038	0.0069	0.0018	0.0028137	435	154602	rs190023905	0.0018	0.0029	0.0017	0.0019	0.0181	0.0018	0.0017	0.0152	0.0141	0.0021	0.0015	0.0135	0.0006	0.0021	0.0181	0.0015	0.0025	0.0015	0.0015	0.0024	0.0015	0.0015	0.0016	0.0013	0.0013	0.0013	0.0012	0.0003	0	0.0016	0.0135	0.0012	0.0019	0.0207	0.0015	0.0010	0.0013	1.0	0.00964	T	1.0	0.01155	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-2.57	0.89692	D	-0.18	0.09796	N	0.184	0.19995	.	.	.	.	.	.	.	0.004205942	0.00084	T	0.004814	0.12035	T	.	.	.	.	0.86273415683	0.86140	0.3669056785769498	0.36604	0.763659519793	0.64390	.	.	.	.	.	.	-0.305839	0.08119	T	-0.231107	0.51665	T	.	.	.	0.476552	0.14308	T	0.04579843	0.07558	0.04903152	0.07407	0.04579843	0.07558	0.04903152	0.07407	-3.619	0.18132	T	.	.	0.075	0.05668	B	.	.	0.292315	0.06685	3.189	0.58087947744829294	0.05914	0.28105	0.23462	N	AEFCI	0.187209	0.31450	N	.	.	.	.	.	.	1.42962172204828E-5	0.02871	0.553676	0.25195	0	0.573888	0.26702	0	0.573888	0.23631	0	0.620846	0.47308	0	.	.	0.83	-0.343	0.12004	0.830000	0.27115	1.532000	0.27166	0.278000	0.18600	1.000000	0.71638	0.003000	0.18671	0.001000	0.02609	0.0:0.7074:0.2926:0.0	6.797	0.22917	988	0.01987	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	654.98	84	chr15	23364400	.	C	A	654.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.26;DP=1736;ExcessHet=0.0000;FS=2.740;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=56.17;MQRankSum=-9.641e+00;QD=2.36;ReadPosRankSum=0.263;SOR=0.647	GT:AD:DP:GQ:PL	0/1:227,50:277:99:669,0,6186	20	0	1	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	1/2:1,88,77:166:99:.:.:6161,2602,3226,3591,0,3355	0	0	2	0
chr15	25681005	25681005	T	C	exonic	ATP10A	.	nonsynonymous SNV	ATP10A:NM_024490:exon18:c.A3562G:p.I1188V,	.	.	417	1101	4	0	0	4	0.00181324	.	.	714346	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.67	T	0.002	B	0.002	B	0.000	N	0.997	D	0.46	N	0.98	T	-1.083	T	0.037	T	0.169	0.659	7.535	2.75	0.271	2.567	7.786	0.073	0.00945249379053	0.0052	0.00239617	0.0036	0.0018	0.0033	0	0.0023	0.0054	0.0011	6.056e-05	0.0038486	595	154602	rs2076745	0.0052	0.0052	0.0053	0.0050	0.0060	0.0051	0.0050	0.0059	0.0058	0.0015	0.0038	0.0101	0	0.0024	0.0012	0.0060	0.0047	0.0001	0.0041	0.0041	0.0047	0.0036	0.0058	0.0039	0.0038	0.0054	0.0052	0.0023	0.0011	0.0039	0.0112	0	0.0019	0.0068	0.0058	0.0071	0.0002	0.503	0.07670	T	0.663	0.06448	T	0.002	0.09854	B	0.002	0.06944	B	0.000001	0.62929	N	0.096626	0.996751	0.43396	D	1.49	0.37298	L	0.98	0.42122	T	-0.17	0.09627	N	0.247	0.27910	-1.0832	0.06739	T	0.037	0.16160	T	10	0.0073272884	0.00167	T	0.009452	0.24763	T	0.073	0.21317	.	.	0.15499578495	0.15088	0.4834675839350748	0.48266	0.133997890471	0.15095	0.523544967175	0.42126	T	0.00858	0.07868	T	-0.529111	0.00389	T	-0.528663	0.19419	T	0.00906692067822099	0.00114	T	0.717028	0.32946	T	0.07975324	0.18237	0.08240758	0.18804	0.07975324	0.18236	0.08240758	0.18803	-6.501	0.50294	T	.	.	0.107	0.19919	B	.	.	2.169134	0.27642	17.53	0.84396623647367541	0.15267	0.92641	0.56191	D	AEFDBI	0.557581	0.56715	D	-0.555498440577391	0.20311	1.069814	-0.389345295164469	0.25313	1.391317	0.981951731497745	0.30332	0.615465	0.37627	0	0.573888	0.26702	0	0.658983	0.55881	0	0.564101	0.26826	0	.	.	5.11	2.75	0.31439	2.556000	0.45524	1.791000	0.28799	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.966000	0.53164	0.0:0.0729:0.1393:0.7878	7.786	0.28255	625	0.65529	P-type ATPase, C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	3237.11	35	chr15	25681005	.	T	C	3237.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-1.698e+00;DP=1224;ExcessHet=0.1072;FS=8.401;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=11.44;ReadPosRankSum=0.634;SOR=0.388	GT:AD:DP:GQ:PL	0/1:80,57:137:99:1346,0,2286	19	0	2	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	1/2:1,28,21:50:99:1464,518,493,738,0,648	0	10	0	0
chr15	34365647	34365647	C	T	exonic	LPCAT4	.	nonsynonymous SNV	LPCAT4:NM_153613:exon2:c.G169A:p.V57I,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.84	T	0.002	B	0.001	B	0.000	N	0.818	N	0.55	N	-1.46	T	-0.903	T	0.227	T	0.134	1.727	11.73	3.9	0.798	0.229	6.284	0.187	0.0113445433513	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1016374423	4.104e-06	4.104e-06	5.445e-06	2.75e-06	0.0002	1.48e-06	9.7e-07	3e-07	1.1e-07	2.987e-05	0	0	0	0	0.0002	1.799e-06	1.656e-05	1.159e-05	1.314e-05	1.313e-05	1.285e-05	1.346e-05	6.546e-05	2.18e-06	8.2e-07	.	.	2.414e-05	0	6.546e-05	0	0	0	0	0	0	0	0.691	0.04289	T	0.843	0.03579	T	0.002	0.09854	B	0.001	0.04355	B	0.000042	0.53742	N	0.159570	0.818057	0.28918	N	0.145	0.08828	N	-1.46	0.80983	T	0.07	0.06138	N	0.129	0.12341	-0.9026	0.47717	T	0.227	0.59233	T	10	0.09083274	0.15857	T	0.011345	0.28865	T	0.187	0.46274	0.528	0.63412	0.082315109003	0.07666	0.6635722785000028	0.66294	0.546067844813	0.51612	0.551275193691	0.46038	T	0.02855	0.20658	T	-0.141491	0.29652	T	-0.441019	0.28694	T	0.388317316770554	0.28501	T	0.662834	0.27173	T	0.08683926	0.20200	0.04656387	0.06516	0.08683926	0.20199	0.04656387	0.06516	-2.137	0.03746	T	.	.	0.085	0.10014	B	.	.	2.613834	0.33953	19.49	0.94217503119624457	0.24463	0.29620	0.23870	N	AEFDBHCIJ	0.063330	0.12232	N	-0.636367722072537	0.17860	0.9226034	-0.462547464686238	0.23194	1.263604	0.999992921485446	0.74766	0.789315	0.99827	0	0.52208	0.09955	0	0.768056	0.98339	0	0.603991	0.37454	0	.	.	5.76	3.9	0.44240	0.355000	0.19902	3.234000	0.36926	0.599000	0.40250	0.588000	0.27650	0.999000	0.35428	0.999000	0.91618	0.1489:0.6963:0.0:0.1548	6.284	0.20231	681	0.59854	.	.	.	.	.	.	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	1323.98	37	chr15	34365647	.	C	T	1323.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.91;DP=815;ExcessHet=0.0000;FS=2.449;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.93;ReadPosRankSum=0.198;SOR=0.486	GT:AD:DP:GQ:PL	0/1:57,54:111:99:1338,0,1251	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|1:7,41,0:48:99:0|1:40356171_T_C:1527,0,171,1548,294,1842:40356171	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|1:12,25,0:37:99:0|1:40356171_T_C:853,0,436,889,504,1393:40356171	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|1:12,25,0:37:99:0|1:40356171_T_C:853,0,436,889,504,1393:40356171	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|1:12,25,0:37:99:0|1:40356171_T_C:853,0,436,889,504,1393:40356171	10	1	4	4
chr15	40415454	40415454	C	T	exonic	IVD	.	nonsynonymous SNV	IVD:NM_001159508:exon8:c.C842T:p.A281V	Isovaleric acidemia, Autosomal recessive	YES	.	.	.	.	.	.	.	.	.	18607	not_provided|IVD-related_disorder|Inborn_genetic_diseases|Isovaleryl-CoA_dehydrogenase_deficiency	MedGen:C3661900|.|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0009475,MedGen:C0268575,OMIM:243500,Orphanet:33	criteria_provided,_multiple_submitters,_no_conflicts	Pathogenic	.	.	.	.	.	.	.	.	0	D	0.973	D	0.846	P	0.000	D	1.000	A	2.16	M	-3.92	D	-0.341	T	0.395	T	0.924	5.472	35	5.38	2.520	7.217	19.134	0.184	0.188327852901	0.0007	0.000399361	0.0007	0.0003	0.0005	0	0	0.0012	0.0011	0	0.0008344	129	154602	rs28940889	0.0009	0.0009	0.0009	0.0009	0.0011	0.0009	0.0009	0.0011	0.0011	5.974e-05	0.0004	0	0	0.0004	0.0002	0.0011	0.0006	1.159e-05	0.0007	0.0007	0.0007	0.0007	0.0014	0.0006	0.0006	0.0012	0.0011	0.0002	0	0.0003	0	0	0.0003	0	0.0014	0.0005	0	0.002	0.72154	D	0.014	0.62352	D	.	.	.	.	.	.	0.000000	0.84330	D	0.047188	1	0.81001	A	.	.	.	-3.92	0.96562	D	-1.7	0.40468	N	0.804	0.81162	-0.3411	0.73812	T	0.395	0.74778	T	9	0.2668892	0.44196	T	0.188328	0.85994	D	0.887	0.96725	.	.	0.964643876972	0.96426	.	.	0.637825220788	0.57520	0.742085814476	0.73279	T	0.665162	0.89998	D	0.175631	0.71641	D	0.480459	0.94208	D	0.135933771729469	0.15920	T	0.985001	0.95079	D	0.77038425	0.82071	0.55279213	0.74139	0.74941295	0.80836	0.6150786	0.77597	-10.796	0.78527	D	.	.	0.341	0.55957	A	.;.;.	.;.;.	5.170184	0.86660	29.0	0.99911849482036308	0.98095	0.96179	0.67897	D	AEFDBCI	0.923752	0.90071	D	0.479759478002188	0.65910	4.882219	0.5441237129867	0.70988	5.587	0.999999999999999	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.38	5.38	0.77279	7.357000	0.78710	7.708000	0.66649	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:1.0:0.0:0.0	19.134	0.93403	659	0.61982	Acyl-CoA dehydrogenase/oxidase C-terminal;.;Acyl-CoA dehydrogenase/oxidase C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1005.98	34	chr15	40415454	.	C	T	1005.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.464;DP=796;ExcessHet=0.0000;FS=1.814;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.27;ReadPosRankSum=-2.048e+00;SOR=0.745	GT:AD:DP:GQ:PL	0/1:43,39:82:99:1020,0,1083	20	0	1	0
chr15	40809968	40809968	C	T	exonic	ZFYVE19	.	nonsynonymous SNV	ZFYVE19:NM_001077268:exon4:c.C569T:p.P190L	.	.	426	1093	3	0	0	3	0.00137049	0.9996	0.908	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	1.0	D	1.0	D	0.000	D	1.000	D	2.25	M	2.38	T	-1.000	T	0.129	T	0.659	4.518	24.3	5.7	2.692	5.492	17.328	0.142	0.0321947665302	0.0010	0.000599042	0.0014	0.0006	0.0003	0	0	0.0017	0.0022	0.0028	0.0013389	207	154602	rs190799376	0.0019	0.0019	0.0019	0.0019	0.0024	0.0018	0.0018	0.0022	0.0021	0.0004	0.0005	0.0008	2.519e-05	0.0003	0	0.0021	0.0015	0.0024	0.0010	0.0010	0.0011	0.0009	0.0019	0.0009	0.0008	0.0016	0.0015	0.0003	0	0.0003	0.0006	0	0.0003	0	0.0019	0.0014	0.0004	0.012	0.68238	D	0.003	0.92824	D	0.989	0.90584	D	0.856	0.97372	P	0.000000	0.84330	D	0.049136	1	0.81001	D	1.93	0.51437	L	2.3	0.63240	T	-4.95	0.98283	D	0.538	0.56576	-1.0004	0.29803	T	0.129	0.43848	T	10	0.014516145	0.00305	T	0.032195	0.54088	D	0.142	0.37995	.	.	0.844069491511	0.84257	0.4235904099948185	0.42276	0.611375883647	0.55778	0.438167005777	0.30327	T	0.16185	0.50626	T	-0.224382	0.17399	T	-0.0997009	0.63421	T	0.0375764090398765	0.03256	T	0.940956	0.78341	D	0.33799645	0.56119	0.3043717	0.56466	0.33799645	0.56119	0.3043717	0.56465	-5.815	0.55366	T	.	.	0.122	0.35456	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	5.032288	0.83707	28.1	0.99901709152583851	0.97350	0.95793	0.66178	D	AEFDGBI	0.736583	0.68204	D	0.738270473018541	0.82140	7.689519	0.715215548012776	0.83532	8.04684	0.999999999998798	0.74766	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.7	5.7	0.88690	3.305000	0.51580	6.014000	0.52691	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.731000	0.35132	0.0:1.0:0.0:0.0	17.328	0.87140	231	0.90996	.;.;.;.;.;.;.	.	.	.	.	.	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	1430.98	37	chr15	40809968	.	C	T	1430.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.89;DP=831;ExcessHet=0.0000;FS=0.701;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.13;ReadPosRankSum=-1.125e+00;SOR=0.798	GT:AD:DP:GQ:PL	0/1:67,51:118:99:1445,0,1767	20	0	1	0
chr15	41573817	41573817	-	ATGATCTCATGTACCAGTGCTGGAGTGCTGACCCCAAGCAGCGCCCGAGCTTTACTTGTCTGCGAATG	splicing	TYRO3	NM_006293:exon18:c.2282+2->ATGATCTCATGTACCAGTGCTGGAGTGCTGACCCCAAGCAGCGCCCGAGCTTTACTTGTCTGCGAATG;NM_001330264:exon18:c.2147+2->ATGATCTCATGTACCAGTGCTGGAGTGCTGACCCCAAGCAGCGCCCGAGCTTTACTTGTCTGCGAATG	.	.	.	.	425	1069	16	0	12	28	0.00742804	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.845e-06	6.84e-06	8.172e-06	5.504e-06	5.398e-06	3.46e-06	2.52e-06	1.94e-06	1.28e-06	0	0	0	0	5.632e-05	0	5.398e-06	1.656e-05	0	0.0005	0.0014	0.0005	0.0005	0.0006	0.0004	0.0003	0.0004	0.0004	0.0003	0	0.0003	0.0009	0.0004	0.0009	0	0.0006	0.0005	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	1269.05	35	chr15	41573817	.	T	TATGATCTCATGTACCAGTGCTGGAGTGCTGACCCCAAGCAGCGCCCGAGCTTTACTTGTCTGCGAATG,TATGATCTCATGTACCAGTGCTGGAGTGCTGACCCCAAGCAGCGCCCGAGCTTTACTTGTCTGC	1269.05	.	AC=1,1;AF=0.024,0.024;AN=42;BaseQRankSum=3.38;DP=1575;ExcessHet=0.1072;FS=0.597;InbreedingCoeff=-0.0500;MLEAC=1,1;MLEAF=0.024,0.024;MQ=60.00;MQRankSum=0.00;QD=4.50;ReadPosRankSum=-8.730e-01;SOR=0.792	GT:AD:DP:GQ:PL	0/2:97,0,16:113:99:374,672,4690,0,4018,3970	19	0	1	0
chr15	41573817	41573817	-	ATGATCTCATGTACCAGTGCTGGAGTGCTGACCCCAAGCAGCGCCCGAGCTTTACTTGTCTGC	splicing	TYRO3	NM_006293:exon18:c.2282+2->ATGATCTCATGTACCAGTGCTGGAGTGCTGACCCCAAGCAGCGCCCGAGCTTTACTTGTCTGC;NM_001330264:exon18:c.2147+2->ATGATCTCATGTACCAGTGCTGGAGTGCTGACCCCAAGCAGCGCCCGAGCTTTACTTGTCTGC	.	.	.	.	425	1069	16	0	12	28	0.00742804	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.499e-05	9.718e-05	0	0	0	0.0001	0	0	.	.	.	.	4.792e-06	6.156e-06	2.724e-06	6.88e-06	0.0002	1.99e-06	1.28e-06	7.2e-07	2e-07	0	2.241e-05	0	0	3.755e-05	0.0002	2.699e-06	0	0	0.0008	0.0025	0.0009	0.0007	0.0009	0.0007	0.0006	0.0007	0.0006	0.0006	0	0.0009	0.0012	0	0.0012	0.0034	0.0009	0.0009	0.0008	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	1269.05	35	chr15	41573817	.	T	TATGATCTCATGTACCAGTGCTGGAGTGCTGACCCCAAGCAGCGCCCGAGCTTTACTTGTCTGCGAATG,TATGATCTCATGTACCAGTGCTGGAGTGCTGACCCCAAGCAGCGCCCGAGCTTTACTTGTCTGC	1269.05	.	AC=1,1;AF=0.024,0.024;AN=42;BaseQRankSum=3.38;DP=1575;ExcessHet=0.1072;FS=0.597;InbreedingCoeff=-0.0500;MLEAC=1,1;MLEAF=0.024,0.024;MQ=60.00;MQRankSum=0.00;QD=4.50;ReadPosRankSum=-8.730e-01;SOR=0.792	GT:AD:DP:GQ:PL	0/2:97,0,16:113:99:374,672,4690,0,4018,3970	19	0	1	0
chr15	42072303	42072303	C	G	exonic	PLA2G4D	.	nonsynonymous SNV	PLA2G4D:NM_178034:exon14:c.G1407C:p.E469D,	.	.	414	1099	8	1	0	10	0.00452899	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.78	T	0.834	P	0.492	P	0.000	D	0.780	N	1.31	L	3.68	T	-1.092	T	0.010	T	0.342	1.587	11.26	4.25	1.138	-0.165	5.063	0.075	.	0.0035	0.00219649	0.0039	0.0008	0.0021	0	0.0036	0.0051	0.0111	0.0043	0.0039909	617	154602	rs143657689	0.0053	0.0053	0.0054	0.0052	0.0061	0.0052	0.0052	0.0060	0.0059	0.0010	0.0017	0.0006	2.519e-05	0.0035	0.0016	0.0061	0.0054	0.0042	0.0034	0.0034	0.0036	0.0033	0.0058	0.0032	0.0031	0.0053	0.0052	0.0011	0	0.0020	0.0006	0	0.0028	0	0.0058	0.0024	0.0031	0.7	0.04175	T	0.845	0.03558	T	0.834	0.46206	P	0.492	0.47401	P	0.000460	0.44317	D	0.150849	0.780022	0.29343	N	1.795	0.47270	L	3.68	0.04151	T	0.42	0.03352	N	0.164	0.17278	-1.0917	0.05254	T	0.010	0.03492	T	10	0.0041039586	0.00081	T	.	.	.	0.075	0.21907	0.498	0.58835	0.518147779662	0.51458	0.43912008818529796	0.43829	0.0524052570949	0.05771	0.393425792456	0.24151	T	5.83E-4	0.00238	T	-0.516639	0.00460	T	-0.511864	0.21123	T	0.0465651428282101	0.04886	T	0.343166	0.07474	T	0.2551345	0.48546	0.12471271	0.30058	0.2551345	0.48546	0.12471271	0.30057	-5.597	0.42765	T	.	.	0.125	0.26514	B	.	.	2.032238	0.25831	16.90	0.98996539306679754	0.50065	0.44866	0.27412	N	AEFBI	0.170656	0.29757	N	-0.0336555892570521	0.40334	2.393632	0.0109954941582308	0.40225	2.397202	0.974574497990113	0.29555	0.428477	0.06694	0	0.547309	0.14657	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	5.2	4.25	0.49658	-0.472000	0.06702	0.089000	0.14491	0.599000	0.40250	0.006000	0.17386	0.007000	0.19602	0.990000	0.65344	0.1533:0.619:0.1481:0.0796	5.063	0.13906	65	0.97253	Lysophospholipase, catalytic domain|Lysophospholipase, catalytic domain|Lysophospholipase, catalytic domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1365.98	40	chr15	42072303	.	C	G	1365.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.099;DP=836;ExcessHet=0.0000;FS=0.738;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.39;ReadPosRankSum=0.720;SOR=0.604	GT:AD:DP:GQ:PL	0/1:49,53:102:99:1380,0,1259	20	0	1	0
chr15	51737521	51737521	C	G	exonic	LYSMD2	.	nonsynonymous SNV	LYSMD2:NM_153374:exon1:c.G102C:p.E34D,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3	T	0.608	P	0.146	B	0.011	U	1.000	D	0.975	L	1.16	T	-1.105	T	0.058	T	0.287	2.285	13.60	3.12	0.921	1.570	11.669	0.059	0.520199524135	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs904431964	3.229e-05	2.805e-05	4.485e-05	1.869e-05	0.0003	2.364e-05	2.098e-05	2.358e-05	2.054e-05	0	0	6.879e-05	0	0	0.0003	3.291e-05	6.763e-05	0	6.6e-06	6.571e-06	1.29e-05	0	1.475e-05	0	0	.	.	0	0	0	0	0	0	0	1.475e-05	0	0	0.035	0.43708	D	0.061	0.45530	T	0.608	0.39540	P	0.146	0.33945	B	0.010782	0.29783	U	0.298232	0.999412	0.81001	D	2.045	0.56016	M	1.16	0.38073	T	-1.02	0.26843	N	0.248	0.28028	-1.1047	0.03567	T	0.058	0.24428	T	10	0.2303744	0.39987	T	0.520	0.95435	D	0.059	0.16972	0.091	0.01065	0.369867359543	0.36593	0.31234773195055987	0.31147	0.177066389219	0.19922	0.954826891422	0.99842	D	0.010887	0.09781	T	-0.128724	0.31703	T	-0.422679	0.30769	T	0.257644796886239	0.23211	T	0.488951	0.15001	T	0.23856387	0.46735	0.15860085	0.37030	0.23856387	0.46735	0.15860085	0.37029	-3.433	0.15504	T	.	.	0.099	0.16538	B	.	.	2.828143	0.37279	20.5	0.90016058773140051	0.19305	0.61631	0.31541	D	AEFDGBHCI	0.252249	0.37197	N	-0.430216184392191	0.24416	1.318171	-0.454506786318731	0.23420	1.277169	0.999999999999981	0.74766	0.652421	0.48094	0	0.484254	0.07192	0	0.64067	0.45733	0	0.56751	0.32155	0	.	.	4.04	3.12	0.34986	1.642000	0.36823	3.011000	0.35961	0.421000	0.20799	1.000000	0.71638	0.986000	0.30841	0.993000	0.69303	0.0:0.912:0.0:0.088	11.669	0.50653	243	0.90483	.	.	.	.	.	.	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	575.98	29	chr15	51737521	.	C	G	575.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.400e+00;DP=543;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=18.00;ReadPosRankSum=0.081;SOR=0.693	GT:AD:DP:GQ:PL	0/1:10,22:32:99:590,0,314	20	0	1	0
chr15	57544498	57544498	T	C	exonic	CGNL1	.	nonsynonymous SNV	CGNL1:NM_032866:exon16:c.T3401C:p.I1134T	.	.	.	.	.	.	.	.	.	.	.	3216048	not_specified|CGNL1-related_disorder	MedGen:CN169374|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.38	T	0.0	B	0.001	B	0.793	N	0.816	N	-1.385	N	-1.05	T	-0.949	T	0.151	T	0.13	1.768	11.87	3.43	0.420	1.504	9.942	0.165	0.0148160318519	0.0006	0.00119808	0.0002	0.0019	0.0002	0	0	0	0	0	0.0001682	26	154602	rs145843105	5.952e-05	5.951e-05	8.032e-05	3.851e-05	0.0019	4.883e-05	4.562e-05	0.0015	0.0013	0.0019	0.0002	0	0	0	0	2.698e-06	0.0002	0	0.0006	0.0006	0.0005	0.0006	0.0019	0.0005	0.0004	0.0016	0.0015	0.0019	0	0.0004	0	0	0	0	0	0.0005	0	0.33	0.13131	T	0.328	0.18675	T	0.0	0.02946	B	0.001	0.04355	B	0.792890	0.06722	N	1.106850	0.816236	0.28939	N	-1.1	0.00987	N	-1.05	0.76690	T	-0.73	0.20576	N	0.284	0.32148	-0.9485	0.41228	T	0.151	0.47856	T	10	0.0085784495	0.00194	T	0.014816	0.35183	T	0.165	0.42395	.	.	0.467247493403	0.46351	0.02464624071553414	0.02415	0.0192354167532	0.01881	0.354584932327	0.18594	T	0.055719	0.30087	T	-0.475901	0.00782	T	-0.462543	0.26321	T	0.0159312689139693	0.00377	T	0.668933	0.27772	T	0.03061201	0.02756	0.049776383	0.07678	0.03061201	0.02755	0.049776383	0.07678	-2.221	0.04143	T	.	.	0.142	0.31253	B	.	.	1.941015	0.24657	16.48	0.93293560172575685	0.23002	0.59568	0.30951	D	AEFDBI	0.091219	0.18478	N	-0.71313752099941	0.15652	0.7906704	-0.472788303605854	0.22906	1.246531	0.999970289531557	0.50053	0.706548	0.73137	0	0.563428	0.19063	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.82	3.43	0.38372	1.530000	0.35613	2.371000	0.32429	0.644000	0.52426	0.675000	0.28393	0.997000	0.33255	0.991000	0.66497	0.0:0.1444:0.0:0.8556	9.942	0.40756	369	0.84396	Myosin tail	.	.	.	.	.	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	1791.98	33	chr15	57544498	.	T	C	1791.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.174e+00;DP=1252;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.05;ReadPosRankSum=0.267;SOR=0.660	GT:AD:DP:GQ:PL	0/1:118,80:198:99:1806,0,3377	20	0	1	0
chr15	62698842	62698842	C	T	exonic	TLN2	.	nonsynonymous SNV	TLN2:NM_015059:exon13:c.C1562T:p.S521L,	.	.	433	1086	3	0	0	3	0.00137931	.	.	2425120	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.21	T	0.001	B	0.009	B	0.001	D	1.000	N	0.345	N	-0.31	T	-0.995	T	0.133	T	0.213	2.622	14.73	4.04	2.767	2.383	7.964	0.070	0.00933984891806	.	0.000199681	0.0003	0	0.0002	0.0001	0	0.0002	0	0.0013	0.0002652	41	154602	rs576320794	0.0002	0.0002	0.0002	0.0003	0.0028	0.0002	0.0002	0.0017	0.0014	8.962e-05	0.0005	0	0.0001	1.914e-05	0.0028	0.0001	0.0003	0.0014	0.0002	0.0002	0.0001	0.0003	0.0017	0.0002	0.0001	0.0008	0.0006	4.813e-05	0	0.0009	0	0.0004	0	0	0.0001	0	0.0017	0.286	0.15201	T	0.309	0.19782	T	0.001	0.07471	B	0.009	0.14300	B	0.000667	0.42516	D	0.258020	0.835999	0.28696	N	0.55	0.14455	N	-0.31	0.68030	T	-2.54	0.55025	D	0.338	0.37923	-0.9949	0.31326	T	0.133	0.44642	T	10	0.02178353	0.00529	T	0.00934	0.24506	T	.	.	.	.	0.216943180021	0.21308	0.2894602313594382	0.28859	0.195102303501	0.21846	0.456956207752	0.32893	T	0.633557	0.88673	D	-0.41944	0.01724	T	-0.415806	0.31556	T	0.037588671820096	0.03260	T	0.947805	0.79866	D	0.100940675	0.23840	0.090044886	0.21094	0.100940675	0.23840	0.090044886	0.21093	-5.449	0.41388	T	.	.	0.104	0.18787	B	.	.	4.097332	0.61070	24.3	0.99699921706261108	0.80522	0.86986	0.46394	D	AEFDBCI	0.334570	0.43329	N	-0.181771343922944	0.33894	1.928215	0.0140493791332339	0.40366	2.407887	0.996146963696278	0.34553	0.758104	0.99027	0	0.61073	0.52368	0	0.691618	0.62860	0	0.586402	0.36253	0	.	.	5.02	4.04	0.46262	1.560000	0.35939	4.123000	0.41985	0.599000	0.40250	0.243000	0.24778	0.999000	0.35428	0.979000	0.57723	0.3149:0.5581:0.1271:0.0	7.964	0.29246	917	0.20147	Talin, central	.	.	.	.	.	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	915.98	34	chr15	62698842	.	C	T	915.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.306e+00;DP=807;ExcessHet=0.0000;FS=2.032;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.47;ReadPosRankSum=1.09;SOR=0.452	GT:AD:DP:GQ:PL	0/1:30,38:68:99:930,0,751	20	0	1	0
chr15	62708509	62708509	G	A	exonic	TLN2	.	nonsynonymous SNV	TLN2:NM_015059:exon18:c.G2180A:p.S727N,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.764	P	0.41	B	0.000	D	1.000	D	1.39	L	-0.44	T	-0.474	T	0.278	T	0.256	4.320	22.7	5.25	2.604	3.931	19.197	0.205	0.0316390951372	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.054e-06	2.052e-06	1.362e-06	2.754e-06	0.0003	5.5e-07	1.5e-07	6.094e-05	2.522e-05	2.99e-05	0	0	0	0	0.0003	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.002	0.79402	D	0.764	0.43716	P	0.41	0.44785	B	0.000000	0.84330	D	0.000000	1	0.81001	D	1.245	0.31408	L	-0.44	0.69777	T	-2.62	0.56301	D	0.604	0.62188	-0.4745	0.69566	T	0.278	0.64946	T	10	0.394108	0.55101	T	0.031639	0.53671	D	.	.	0.367	0.37524	0.385232620033	0.38131	0.6057013101734646	0.60501	0.300831044589	0.32437	0.795703887939	0.81309	T	0.391986	0.75177	T	-0.034678	0.46733	T	-0.287589	0.46022	T	0.966170370578766	0.67499	D	0.948005	0.79945	D	0.769413	0.82013	0.6527176	0.79675	0.769413	0.82014	0.6527176	0.79676	-12.499	0.87196	D	.	.	0.773	0.76054	P	.	.	4.397194	0.67907	25.2	0.9936056757589512	0.60987	0.97994	0.78718	D	AEFBI	0.596615	0.59071	D	0.402902260827276	0.61581	4.361253	0.472369466576382	0.66167	4.916766	0.999999999993177	0.74766	0.626454	0.40138	0	0.588015	0.36545	0	0.80507	0.99327	0	0.586402	0.36253	0	.	.	5.25	5.25	0.73169	3.415000	0.52455	5.986000	0.52250	0.671000	0.69459	1.000000	0.71638	1.000000	0.68203	0.976000	0.56436	0.0:0.0:1.0:0.0	19.197	0.93679	920	0.19381	I/LWEQ 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	714.98	33	chr15	62708509	.	G	A	714.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.892;DP=722;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.25;ReadPosRankSum=0.470;SOR=0.957	GT:AD:DP:GQ:PL	0/1:22,22:44:99:729,0,646	20	0	1	0
chr15	62809976	62809976	C	T	exonic	TLN2	.	nonsynonymous SNV	TLN2:NM_015059:exon49:c.C6715T:p.R2239C,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	0.986	D	0.462	P	0.003	N	1.000	D	1.7	L	-0.4	T	-0.509	T	0.260	T	0.619	3.280	17.01	4.75	2.696	3.087	13.768	0.251	0.0198232375553	.	.	5.785e-05	0	0	0	0	9.01e-05	0	6.106e-05	4.53e-05	7	154602	rs754915891	2.189e-05	2.189e-05	1.77e-05	2.613e-05	0.0003	1.584e-05	1.356e-05	6.092e-05	2.521e-05	0	6.708e-05	0	0	0	0.0003	2.068e-05	3.311e-05	2.319e-05	1.315e-05	1.314e-05	2.571e-05	0	6.551e-05	2.19e-06	8.2e-07	.	.	0	0	6.551e-05	0	0	0	0	1.47e-05	0	0	0.051	0.39334	T	0.052	0.47581	T	0.986	0.61523	D	0.462	0.46509	P	0.002728	0.36034	N	0.270111	0.999952	0.52396	D	1.355	0.33814	L	-0.4	0.69287	T	-2.71	0.62518	D	0.639	0.65159	-0.5090	0.68323	T	0.260	0.63088	T	10	0.26975217	0.44502	T	0.019823	0.42278	T	.	.	0.442	0.49811	0.470684501043	0.46696	0.3382385023636466	0.33736	0.515258437671	0.49436	0.456845343113	0.32878	T	0.457154	0.79564	T	-0.0914955	0.37829	T	-0.172232	0.57239	T	0.258681327104568	0.23257	T	0.992251	0.97542	D	0.14525817	0.33305	0.1032847	0.24779	0.14525817	0.33304	0.1032847	0.24778	-9.386	0.70147	D	.	.	0.089	0.12181	B	.;.;.	.;.;.	4.559507	0.71841	25.7	0.99917396618096543	0.98518	0.92727	0.56398	D	AEFDGBI	0.521286	0.54578	D	0.40008626822782	0.61428	4.344	0.414470729725649	0.62464	4.462397	0.999996732492924	0.74766	0.706298	0.61202	0	0.627178	0.54094	0	0.709663	0.75317	0	0.586402	0.36253	0	.	.	5.7	4.75	0.59954	3.202000	0.50769	3.227000	0.36886	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.517000	0.29406	0.2762:0.7238:0.0:0.0	13.768	0.62497	904	0.23766	.;.;.	.	.	.	.	.	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	2092.98	36	chr15	62809976	.	C	T	2092.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.71;DP=859;ExcessHet=0.0000;FS=4.606;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.76;ReadPosRankSum=-1.928e+00;SOR=1.061	GT:AD:DP:GQ:PL	0/1:88,76:164:99:2107,0,2133	20	0	1	0
chr15	72664955	72664955	C	G	exonic	GOLGA6B	.	nonsynonymous SNV	GOLGA6B:NM_018652:exon14:c.C1513G:p.Q505E,	.	.	499	1014	9	0	0	9	0.00441826	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.0	B	0.0	B	.	.	1.000	N	-1.265	N	2.29	T	-0.972	T	0.009	T	0.067	-2.194	0.005	0.39	-0.771	-1.109	.	0.018	0.00110618399991	.	.	0.0029	0.0013	0.0005	0.0033	0.0017	0.0024	0	0.0080	3.84e-05	1	26028	rs760657905	0.0031	0.0055	0.0031	0.0031	0.0036	0.0030	0.0029	0.0034	0.0034	0.0018	0.0011	0.0005	0.0021	0.0015	0.0034	0.0036	0.0026	0.0027	0.0021	0.0034	0.0024	0.0017	0.0035	0.0018	0.0017	0.0029	0.0027	0.0014	0	0.0006	0.0007	0	0.0012	0	0.0035	0.0011	0.0026	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	-2.11	0.00152	N	2.29	0.17113	T	1.23	0.01037	N	0.065	0.03726	-0.9723	0.36712	T	0.009	0.03359	T	8	0.004661739	0.00098	T	0.001106	0.01312	T	0.018	0.03083	.	.	0.0138822411134	0.00435	0.022594273954294433	0.02211	.	.	0.604803681374	0.53583	T	5.32E-4	0.00207	T	-0.393701	0.02546	T	-0.8033	0.01821	T	0.00317799761379924	0.00033	T	0.20228	0.02325	T	0.07796646	0.17727	0.085779615	0.19830	0.07796646	0.17726	0.085779615	0.19829	-2.832	0.08482	T	.	.	0.054	0.00354	B	.	.	-0.175014	0.03221	0.538	0.45289891730091059	0.03544	0.00042	0.00346	N	AEFI	0.011000	0.00089	N	-1.92559588169967	0.00304	0.01305553	-1.90918336414759	0.00470	0.0207906	6.87455579199866E-5	0.04366	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	0.39	0.39	0.15500	-0.008000	0.12724	-0.024000	0.12886	-0.916000	0.02226	0.022000	0.19841	0.000000	0.08366	0.002000	0.04165	.	.	.	431	0.80762	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02778	104.2	34	chr15	72664955	.	C	G	104.2	.	AC=1;AF=0.028;AN=36;BaseQRankSum=1.28;DP=276;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0435;MLEAC=1;MLEAF=0.028;MQ=30.63;MQRankSum=-5.240e-01;QD=20.84;ReadPosRankSum=-2.530e-01;SOR=1.981	GT:AD:DP:GQ:PL	0/1:1,4:5:26:117,0,26	17	0	1	3
chr15	74418935	74418935	G	A	exonic	SEMA7A	.	nonsynonymous SNV	SEMA7A:NM_001146029:exon2:c.C196T:p.R66W	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.18	T	0.038	B	0.005	B	0.371	N	1.000	N	1.965	M	1.88	T	-1.016	T	0.061	T	0.152	1.366	10.49	0.468	0.102	0.725	3.300	0.083	0.00310040016817	0.0002	0.000199681	9.211e-05	9.952e-05	0	0	0	0.0001	0	0.0001	8.41e-05	13	154602	rs144593673	3.627e-05	3.625e-05	2.996e-05	4.265e-05	0.0001	2.829e-05	2.566e-05	6.246e-05	4.757e-05	5.974e-05	0	0	2.519e-05	0	0	3.417e-05	3.312e-05	0.0001	9.848e-05	9.842e-05	6.423e-05	0.0001	0.0002	6.001e-05	4.876e-05	0.0001	8.431e-05	0.0002	0	0	0	0	0	0	7.35e-05	0.0005	0	0.089	0.32141	T	0.158	0.31629	T	0.022	0.18677	B	0.002	0.06944	B	0.370746	0.04361	N	1.495040	1	0.08975	N	1.175	0.29870	L	1.88	0.23884	T	-2.06	0.48184	N	0.138	0.28028	-1.0163	0.24916	T	0.061	0.25528	T	10	0.06080824	0.07527	T	0.003	0.06726	T	0.083	0.24192	.	.	0.559885124835	0.55649	0.7232619460350066	0.72270	0.480955726322	0.47103	0.378051042557	0.21979	T	0.253317	0.62382	T	-0.427388	0.01537	T	-0.572255	0.15243	T	0.0366531917343063	0.03095	T	0.772023	0.40277	T	0.07694751	0.17435	0.03683295	0.03208	0.07694751	0.17435	0.03683295	0.03208	-5.023	0.37089	T	.	.	0.106	0.24363	B	.;.	.;.	2.856868	0.37735	20.6	0.97471421333700081	0.34136	0.15799	0.19087	N	AEFDGBHCI	0.132704	0.25210	N	-0.628669372852429	0.18087	0.9362092	-0.666299818608699	0.17805	0.9484239	0.999986363697325	0.51787	0.736574	0.97449	0	0.696144	0.67643	0	0.732669	0.93749	0	0.604944	0.38103	0	.	.	3.59	0.468	0.15943	0.461000	0.21651	2.719000	0.34297	0.676000	0.76740	0.021000	0.19753	0.998000	0.33993	0.986000	0.61781	0.2682:0.2205:0.5114:0.0	3.300	0.06570	809	0.43032	Sema domain;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1244.98	34	chr15	74418935	.	G	A	1244.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.95;DP=795;ExcessHet=0.0000;FS=2.549;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.64;ReadPosRankSum=1.75;SOR=0.985	GT:AD:DP:GQ:PL	0/1:59,48:107:99:1259,0,1453	20	0	1	0
chr15	75290467	75290467	G	T	exonic	GOLGA6D	.	stopgain	GOLGA6D:NM_001145224:exon11:c.G934T:p.E312X,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	.	.	.	.	.	.	1.000	A	.	.	.	.	.	.	.	.	.	2.283	13.59	0.615	0.229	1.214	4.020	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1478917892	7.805e-05	0.0002	7.444e-05	8.126e-05	0.0001	5.571e-05	4.828e-05	5.547e-05	4.629e-05	0	0.0001	0.0003	0	0	0	8.529e-05	9.925e-05	7.732e-05	0.0005	0.0002	0.0005	0.0006	0.0024	0.0003	0.0002	0.0004	0.0002	0	0	0.0024	0.0040	0	0	0	0.0004	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.019	0.00279	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.339908	0.85826	D	0.250478	0.85640	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerant;.	High;.	5.404399	0.90485	31	0.992907246581193	0.58255	0.05778	0.11711	N	AEFI	0.064774	0.12598	N	0.0561038226482104	0.44423	2.716711	-0.375368609575088	0.25733	1.416996	2.20763559477119E-4	0.05997	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.56	0.615	0.16784	0.662000	0.24721	4.535000	0.43741	0.407000	0.20612	0.000000	0.06391	0.999000	0.35428	0.003000	0.05239	0.4043:0.0:0.5957:0.0	4.020	0.09147	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	0.02632	165.36	6	chr15	75290467	.	G	T	165.36	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.590e+00;DP=126;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0612;MLEAC=1;MLEAF=0.026;MQ=33.61;MQRankSum=-4.470e-01;QD=7.87;ReadPosRankSum=1.42;SOR=0.250	GT:AD:DP:GQ:PL	0/1:14,7:21:99:178,0,456	18	0	1	2
chr15	75689635	75689635	C	T	exonic	CSPG4	.	nonsynonymous SNV	CSPG4:NM_001897:exon3:c.G1430A:p.R477H,	.	.	422	1077	23	0	0	23	0.010565	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.15	T	0.513	P	0.079	B	0.000	D	0.953	N	1.79	L	2.14	T	-1.046	T	0.043	T	0.372	1.107	9.517	4.19	2.375	1.407	9.359	0.068	0.0120667652604	.	.	0.0066	0.0030	0.0036	0.0006	0.0030	0.0091	0.0045	0.0054	3.84e-05	1	26028	rs200493777	7.295e-05	0.0015	7.395e-05	7.193e-05	0.0008	6.151e-05	5.734e-05	0.0005	0.0005	0.0008	0.0001	0	0.0002	0.0001	0.0005	4.339e-05	6.65e-05	6.975e-05	0.0004	0.0022	0.0003	0.0004	0.0010	0.0003	0.0003	0.0008	0.0007	0.0010	0	0.0001	0.0003	0	0.0003	0	8.969e-05	0.0005	0.0004	0.544	0.06713	T	0.024	0.56640	D	0.513	0.37366	P	0.079	0.28749	B	0.000447	0.44317	D	0.096704	0.953023	0.26418	N	2.595	0.75868	M	2.14	0.19450	T	-1.73	0.41046	N	0.24	0.27077	-1.0460	0.15534	T	0.043	0.18326	T	10	0.00795725	0.00181	T	0.012067	0.30309	T	0.068	0.19811	.	.	0.366659145958	0.36277	0.5800590243062339	0.57934	0.423483163706	0.42806	0.293441236019	0.09426	T	0.182449	0.53447	T	-0.172229	0.24898	T	-0.485171	0.23899	T	0.0405854374412424	0.03796	T	0.773423	0.40508	T	0.036069673	0.04365	0.037466243	0.03404	0.036069673	0.04365	0.037466243	0.03404	-4.29	0.28037	T	.	.	0.075	0.05711	B	.	.	1.613444	0.20617	14.83	0.98479293593176109	0.41954	0.24936	0.22547	N	AEFBI	0.188776	0.31604	N	-0.352546072684954	0.27179	1.489096	-0.401571392193893	0.24950	1.369288	0.99754577931452	0.35740	0.554377	0.28877	0	0.588066	0.40923	0	0.576033	0.28219	0	0.530356	0.10902	0	.	.	5.12	4.19	0.48645	0.882000	0.27824	1.349000	0.25794	0.524000	0.24156	0.003000	0.16062	0.750000	0.26544	0.003000	0.05239	0.0:0.8315:0.0:0.1685	9.359	0.37349	162	0.93704	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.1667	1598.59	40	chr15	75689635	.	C	T	1598.59	.	AC=7;AF=0.167;AN=42;BaseQRankSum=0.980;DP=1516;ExcessHet=2.5830;FS=16.480;InbreedingCoeff=-0.2002;MLEAC=7;MLEAF=0.167;MQ=58.06;MQRankSum=-9.104e+00;QD=2.13;ReadPosRankSum=-1.467e+00;SOR=2.354	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:113,10:123:17:0|1:75689631_A_G:17,0,4673:75689631	14	0	7	0
chr15	82344984	82344984	C	0	exonic	GOLGA6L10	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1875	48.58	9	chr15	82344984	.	C	*,T	48.58	.	AC=6,1;AF=0.188,0.031;AN=32;BaseQRankSum=-9.670e-01;DP=1652;ExcessHet=0.3087;FS=24.087;InbreedingCoeff=-0.0422;MLEAC=7,1;MLEAF=0.219,0.031;MQ=46.42;MQRankSum=0.118;QD=0.08;ReadPosRankSum=-4.680e-01;SOR=1.473	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:116,26,0:144:99:.:.:457,0,4009,850,4197,5636	10	0	5	5
chr15	82345004	82345046	ATAGCCTCTCCTCCTGTTCACGTAGCCTCTCCTCCTGTTCACG	0	exonic	GOLGA6L10	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3	718.55	4	chr15	82345004	.	ATAGCCTCTCCTCCTGTTCACGTAGCCTCTCCTCCTGTTCACG	*,A,GTAGCCTCTCCTCCTGTTCACGTAGCCTCTCCTCCTGTTCACG	718.55	.	AC=4,1,1;AF=0.200,0.050,0.050;AN=20;BaseQRankSum=1.91;DP=1733;ExcessHet=2.6804;FS=27.756;InbreedingCoeff=-0.1646;MLEAC=7,2,2;MLEAF=0.350,0.100,0.100;MQ=47.51;MQRankSum=-6.640e+00;QD=1.18;ReadPosRankSum=-1.278e+00;SOR=1.773	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:104,31,0,0:144:99:.:.:1090,0,3531,1466,3927,6051,1466,3927,6051,6051	4	0	4	11
chr15	82345005	82345005	T	0	exonic	GOLGA6L10	.	.	.	.	.	50	129	12	1	34	48	0.0514706	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2308	40.9	8	chr15	82345005	.	T	C,*	40.9	.	AC=1,5;AF=0.038,0.192;AN=26;BaseQRankSum=0.967;DP=1706;ExcessHet=2.4752;FS=28.441;InbreedingCoeff=-0.0786;MLEAC=1,7;MLEAF=0.038,0.269;MQ=32.71;MQRankSum=0.00;QD=0.07;ReadPosRankSum=-9.670e-01;SOR=1.557	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:104,0,31:144:99:.:.:1090,1466,6051,0,3927,3531	7	0	1	8
chr15	82345025	82345025	G	0	exonic	GOLGA6L10	.	.	.	.	.	642	820	47	0	13	60	0.0278601	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1579	307.4	24	chr15	82345025	.	G	A,*	307.4	.	AC=1,5;AF=0.026,0.132;AN=38;DP=1749;ExcessHet=2.0135;FS=30.096;InbreedingCoeff=-0.1941;MLEAC=1,5;MLEAF=0.026,0.132;MQ=37.25;QD=0.49;SOR=1.584	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:104,0,31:144:99:.:.:1090,1466,6051,0,3927,3531	13	0	1	2
chr15	82345026	82345110	TAGCCTCTCCTCCTGTTCACGTAGCCTCTCCTCCTGTTCACACAGCCTCTCCTCCTGTTCACGTAGCCTCTCCTCCTGTTCACAC	0	exonic	GOLGA6L10	.	.	.	.	.	637	825	3	0	57	60	0.00181488	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2105	1003.57	118	chr15	82345026	.	TAGCCTCTCCTCCTGTTCACGTAGCCTCTCCTCCTGTTCACACAGCCTCTCCTCCTGTTCACGTAGCCTCTCCTCCTGTTCACAC	*,T	1003.57	.	AC=6,3;AF=0.158,0.079;AN=38;BaseQRankSum=1.42;DP=2239;ExcessHet=1.1637;FS=1.330;InbreedingCoeff=-0.0364;MLEAC=6,3;MLEAF=0.158,0.079;MQ=40.84;MQRankSum=0.975;QD=1.08;ReadPosRankSum=-1.194e+00;SOR=0.562	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:104,31,0:144:99:.:.:1090,0,3531,1466,3927,6051	11	0	5	2
chr15	82345027	82345110	AGCCTCTCCTCCTGTTCACGTAGCCTCTCCTCCTGTTCACACAGCCTCTCCTCCTGTTCACGTAGCCTCTCCTCCTGTTCACAC	-	exonic	GOLGA6L10	.	nonframeshift deletion	GOLGA6L10:NM_001164465:exon6:c.750_833del:p.R286_L313del	.	.	637	825	3	0	57	60	0.00181488	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0007	0.0017	0.0007	0.0007	0.0028	0.0007	0.0006	0.0020	0.0017	0.0007	0.0010	0.0026	0.0028	0.0016	0.0008	0.0006	0.0014	0.0005	0.0006	0.0016	0.0005	0.0007	0.0028	0.0004	0.0004	0.0011	0.0007	0.0005	0	0.0003	0.0005	0	0.0017	0	0.0004	0.0010	0.0028	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2105	1003.57	118	chr15	82345026	.	TAGCCTCTCCTCCTGTTCACGTAGCCTCTCCTCCTGTTCACACAGCCTCTCCTCCTGTTCACGTAGCCTCTCCTCCTGTTCACAC	*,T	1003.57	.	AC=6,3;AF=0.158,0.079;AN=38;BaseQRankSum=1.42;DP=2239;ExcessHet=1.1637;FS=1.330;InbreedingCoeff=-0.0364;MLEAC=6,3;MLEAF=0.158,0.079;MQ=40.84;MQRankSum=0.975;QD=1.08;ReadPosRankSum=-1.194e+00;SOR=0.562	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:104,31,0:144:99:.:.:1090,0,3531,1466,3927,6051	11	0	5	2
chr15	82345087	82345087	C	0	exonic	GOLGA6L10	.	.	.	.	.	748	741	8	0	25	33	0.00536913	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1944	1995.03	118	chr15	82345087	.	C	T,*	1995.03	.	AC=3,4;AF=0.083,0.111;AN=36;BaseQRankSum=0.682;DP=2432;ExcessHet=2.7391;FS=0.630;InbreedingCoeff=-0.2500;MLEAC=3,4;MLEAF=0.083,0.111;MQ=38.42;MQRankSum=-1.259e+00;QD=2.52;ReadPosRankSum=-2.066e+00;SOR=0.776	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:104,0,31:144:99:.:.:1090,1466,6051,0,3927,3531	11	0	3	3
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	0/2:21,10,34:65:99:657,575,1286,0,227,455	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	0/1:56,58,0:114:99:1638,0,1564,1806,1738,3545	0	11	9	0
chr15	88845663	88845663	A	G	exonic	ACAN	.	nonsynonymous SNV	ACAN:NM_001135:exon7:c.A1210G:p.I404V	Osteochondritis dissecans, short stature, and early-onset osteoarthritis, Autosomal dominant;Spondyloepimetaphyseal dysplasia, aggrecan type;Spondyloepiphyseal dysplasia, Kimberley type, Autosomal dominant	.	0	1493	28	1	0	30	0.00994695	.	.	1196137	not_specified|Spondyloepiphyseal_dysplasia,_Kimberley_type|Spondyloepimetaphyseal_dysplasia,_aggrecan_type|Short_stature_and_advanced_bone_age,_with_or_without_early-onset_osteoarthritis_and/or_osteochondritis_dissecans|not_provided	MedGen:CN169374|MONDO:MONDO:0012019,MedGen:C1842149,OMIM:608361,Orphanet:93283|MONDO:MONDO:0013014,MedGen:C2748544,OMIM:612813,Orphanet:171866|MONDO:MONDO:0100462,MedGen:C3665488,OMIM:165800,Orphanet:251262|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.34	T	0.0	B	0.001	B	0.285	N	1.000	N	0.755	N	4.71	T	-0.911	T	0.004	T	0.076	-0.005	3.989	-3.01	-0.392	-0.295	2.168	0.024	.	7.7e-05	0.0267572	0.0152	0.0001	0.0009	0.0124	0	0.0002	0.0178	0.1022	0.0133569	2065	154602	rs148070768	0.0065	0.0065	0.0039	0.0091	0.0968	0.0063	0.0063	0.0950	0.0943	0.0001	0.0004	0	0.0067	0	0.0035	0.0002	0.0097	0.0968	0.0042	0.0042	0.0027	0.0058	0.1082	0.0039	0.0038	0.1006	0.0975	0.0005	0	0.0005	0	0.0149	0	0	0.0001	0.0014	0.1082	0.243	0.17761	T	1.0	0.06643	T	0.0	0.02946	B	0.0	0.01387	B	0.284555	0.03855	N	1.691170	1	0.08975	N	0.83	0.20963	L	4.71	0.06291	T	-0.3	0.11913	N	0.037	0.02964	-0.9114	0.46682	T	0.004	0.01261	T	10	0.0017319918	0.00022	T	.	.	.	0.024	0.04979	.	.	.	.	0.35669920752929657	0.35583	0.163701473384	0.18462	0.282205790281	0.07802	T	0.095098	0.39551	T	-0.716182	0.00029	T	-0.787243	0.02241	T	0.000911843834536322	0.00009	T	0.567243	0.20674	T	0.041423783	0.06096	0.047140528	0.06726	0.044479884	0.07116	0.047140528	0.06726	-2.227	0.04173	T	0.12550148330874186	0.12498	0.129	0.27493	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	-0.842136	0.01027	0.043	0.47514820808408115	0.03891	0.01218	0.04323	N	AEFDBI	0.026517	0.02006	N	-1.12570016169177	0.06189	0.2842374	-1.17513049505909	0.06327	0.3042367	0.0870381725852015	0.16024	0.580535	0.33130	0	0.573888	0.26702	0	0.576033	0.28219	0	0.562822	0.20929	0	.	.	5.19	-3.01	0.05132	-0.086000	0.11198	-1.744000	0.04806	-0.053000	0.16966	0.319000	0.25494	0.000000	0.08366	0.078000	0.17132	0.2754:0.1592:0.4103:0.1551	2.168	0.03608	969	0.06854	.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.07143	6414.68	33	chr15	88845663	.	A	G	6414.68	.	AC=3;AF=0.071;AN=42;BaseQRankSum=-2.100e-01;DP=1254;ExcessHet=0.3300;FS=1.105;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=10.36;ReadPosRankSum=-9.120e-01;SOR=0.653	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:101,72:173:99:.:.:1752,0,2557	18	0	3	0
chr15	88849458	88849458	C	A	exonic	ACAN	.	nonsynonymous SNV	ACAN:NM_001135:exon10:c.C1753A:p.R585S	Osteochondritis dissecans, short stature, and early-onset osteoarthritis, Autosomal dominant;Spondyloepimetaphyseal dysplasia, aggrecan type;Spondyloepiphyseal dysplasia, Kimberley type, Autosomal dominant	.	1	1493	27	1	0	29	0.00961857	.	.	1196140	Spondyloepimetaphyseal_dysplasia,_aggrecan_type|Spondyloepiphyseal_dysplasia,_Kimberley_type|Short_stature_and_advanced_bone_age,_with_or_without_early-onset_osteoarthritis_and/or_osteochondritis_dissecans|not_provided	MONDO:MONDO:0013014,MedGen:C2748544,OMIM:612813,Orphanet:171866|MONDO:MONDO:0012019,MedGen:C1842149,OMIM:608361,Orphanet:93283|MONDO:MONDO:0100462,MedGen:C3665488,OMIM:165800,Orphanet:251262|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.77	T	0.058	B	0.06	B	0.157	N	1.000	N	-0.44	N	3.21	T	-0.962	T	0.008	T	0.212	1.546	11.12	4.19	1.269	1.504	14.545	0.084	.	.	0.0269569	0.0191	0.0002	0.0010	0.0147	0.0002	0.0002	0.0227	0.1549	0.013027	2014	154602	rs144501729	0.0064	0.0065	0.0038	0.0091	0.0975	0.0063	0.0063	0.0957	0.0950	0.0002	0.0004	0	0.0066	5.731e-05	0.0034	0.0002	0.0092	0.0975	0.0041	0.0041	0.0026	0.0057	0.1071	0.0038	0.0037	0.0995	0.0965	0.0005	0	0.0005	0	0.0135	9.409e-05	0	0.0001	0.0014	0.1071	0.2	0.23450	T	0.993	0.09457	T	0.003	0.11197	B	0.01	0.14941	B	0.157313	0.17773	N	0.320773	1	0.08975	N	-0.245	0.03879	N	3.21	0.07125	T	-2.86	0.62630	D	0.219	0.31027	-0.9616	0.38877	T	0.008	0.02760	T	10	0.0015206337	0.00017	T	.	.	.	0.084	0.24469	.	.	.	.	0.3371614835293057	0.33629	0.222995365461	0.24826	0.350890189409	0.18053	T	0.082465	0.36833	T	-0.658143	0.00064	T	-0.640676	0.09620	T	0.0262152418393855	0.01435	T	0.215178	0.05801	T	0.29870522	0.52788	0.28842452	0.54859	0.3480815	0.56917	0.28842452	0.54858	-4.164	0.26228	T	0.1278163035417712	0.13149	0.388	0.60789	A	.;.;.;.;.;.;.	.;.;.;.;.;.;.	2.550133	0.33007	19.21	0.97284759840530921	0.33200	0.19452	0.20666	N	AEFDBI	0.306490	0.41362	N	-0.846953672655053	0.12124	0.5891365	-0.724503995040523	0.16352	0.8645878	0.832684827162608	0.24721	0.580535	0.33130	0	0.573888	0.26702	0	0.576033	0.28219	0	0.542086	0.14980	0	.	.	5.11	4.19	0.48645	0.915000	0.28260	2.769000	0.34658	0.599000	0.40250	0.003000	0.16062	0.994000	0.32194	0.873000	0.41610	0.1471:0.8529:0.0:0.0	14.545	0.67609	966	0.07191	Link domain|Link domain|Link domain;Link domain|Link domain|Link domain;Link domain|Link domain|Link domain;Link domain|Link domain|Link domain;.;.;Link domain|Link domain|Link domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.07143	3690.68	33	chr15	88849458	.	C	A	3690.68	.	AC=3;AF=0.071;AN=42;BaseQRankSum=2.20;DP=915;ExcessHet=0.3300;FS=3.351;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=13.32;ReadPosRankSum=0.667;SOR=0.902	GT:AD:DP:GQ:PL	0/1:55,48:103:99:1302,0,1420	18	0	3	0
chr15	88849587	88849587	G	A	exonic	ACAN	.	nonsynonymous SNV	ACAN:NM_001135:exon10:c.G1882A:p.A628T	Osteochondritis dissecans, short stature, and early-onset osteoarthritis, Autosomal dominant;Spondyloepimetaphyseal dysplasia, aggrecan type;Spondyloepiphyseal dysplasia, Kimberley type, Autosomal dominant	.	0	1494	27	1	0	29	0.0096122	.	.	1196141	Spondyloepimetaphyseal_dysplasia,_aggrecan_type|Spondyloepiphyseal_dysplasia,_Kimberley_type|not_provided|Short_stature_and_advanced_bone_age,_with_or_without_early-onset_osteoarthritis_and/or_osteochondritis_dissecans	MONDO:MONDO:0013014,MedGen:C2748544,OMIM:612813,Orphanet:171866|MONDO:MONDO:0012019,MedGen:C1842149,OMIM:608361,Orphanet:93283|MedGen:C3661900|MONDO:MONDO:0100462,MedGen:C3665488,OMIM:165800,Orphanet:251262	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.01	D	0.885	P	0.666	P	0.105	N	0.773	D	2.275	M	2.85	T	-0.966	T	0.057	T	0.38	3.399	17.48	1.99	0.181	0.231	13.965	0.147	.	8.2e-05	0.0267572	0.0197	0.0002	0.0009	0.0136	0	0.0002	0.0252	0.1124	0.0132081	2042	154602	rs200412974	0.0065	0.0065	0.0039	0.0091	0.0979	0.0064	0.0063	0.0962	0.0955	0.0001	0.0004	0	0.0065	0	0.0035	0.0002	0.0094	0.0979	0.0041	0.0041	0.0026	0.0057	0.1074	0.0038	0.0037	0.0997	0.0967	0.0005	0	0.0005	0	0.0133	0	0	0.0001	0.0014	0.1074	0.001	0.78490	D	0.219	0.37037	T	0.839	0.46454	P	0.54	0.48825	P	0.104549	0.19698	N	0.269330	0.772677	0.34170	D	.	.	.	2.85	0.10578	T	-2.73	0.58085	D	0.245	0.40063	-0.9659	0.38033	T	0.057	0.24092	T	10	0.0042779446	0.00086	T	.	.	.	0.147	0.38986	.	.	.	.	0.46768654305253654	0.46687	0.191107692456	0.21433	0.284922510386	0.08188	T	0.095092	0.39551	T	-0.482483	0.00715	T	-0.45155	0.27525	T	0.0876491242202929	0.10937	T	0.89531	0.63576	D	0.3168548	0.54373	0.39760146	0.64370	0.23576613	0.46417	0.39760146	0.64370	-7.55	0.57961	D	0.12764837360086825	0.13104	0.160	0.35267	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	2.544704	0.32927	19.19	0.99676016819602753	0.78912	0.58370	0.30624	D	AEFDBCI	0.195391	0.32243	N	0.158728002653882	0.49225	3.125372	0.0978900643823193	0.44442	2.725943	0.0515967608160388	0.14878	0.580535	0.33130	0	0.573888	0.26702	0	0.576033	0.28219	0	0.542086	0.14980	0	.	.	5.11	1.99	0.25423	0.276000	0.18478	1.680000	0.28007	0.676000	0.76740	0.982000	0.35529	1.000000	0.68203	0.995000	0.73285	0.0:0.0:0.4181:0.5819	13.965	0.63714	966	0.07191	Link domain|Link domain|Link domain|Link domain;Link domain|Link domain|Link domain|Link domain;Link domain|Link domain|Link domain|Link domain;Link domain|Link domain|Link domain|Link domain;.;.;Link domain|Link domain|Link domain|Link 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	6976.68	36	chr15	88849587	.	G	A	6976.68	.	AC=3;AF=0.071;AN=42;BaseQRankSum=1.43;DP=1486;ExcessHet=0.3300;FS=1.126;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=13.06;ReadPosRankSum=-1.421e+00;SOR=0.619	GT:AD:DP:GQ:PL	0/1:72,83:155:99:2428,0,1932	18	0	3	0
chr15	88856755	88856755	-	ATCAGCGGGCTTCCTTCTGGAGAAGTTCTAGAGACTACTGCCCCTGGAGTAGATGAG	exonic	ACAN	.	nonframeshift insertion	ACAN:NM_001135:exon12:c.4170_4171insATCAGCGGGCTTCCTTCTGGAGAAGTTCTAGAGACTACTGCCCCTGGAGTAGATGAG:p.V1407_E1408insDEISGLPSGEVLETTAPGV	Osteochondritis dissecans, short stature, and early-onset osteoarthritis, Autosomal dominant;Spondyloepimetaphyseal dysplasia, aggrecan type;Spondyloepiphyseal dysplasia, Kimberley type, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	1038367	not_provided	MedGen:C3661900	no_assertion_criteria_provided	Uncertain_significance	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	0	0	0	0	0	0	0	.	.	.	.	1.16e-06	0.0003	2.329e-06	0	3.046e-05	0	0	.	.	0	0	0	3.046e-05	0	0	0	0	0	3.136e-05	6.262e-05	3.069e-05	3.207e-05	5.872e-05	5.2e-06	1.95e-06	.	.	5.872e-05	0	0	0	0	0	0	3.673e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02778	1203.07	37	chr15	88856755	.	C	CATCAGCGGGCTTCCTTCTGGAGAAGTTCTAGAGACTACTGCCCCTGGAGTAGATGAG	1203.07	.	AC=1;AF=0.028;AN=36;DP=1460;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=0.4474;MLEAC=1;MLEAF=0.028;MQ=49.17;QD=11.79;SOR=0.519	GT:AD:DP:GQ:PL	0/1:102,0:102:99:1216,0,2720	17	0	1	3
chr15	88857732	88857732	G	T	exonic	ACAN	.	nonsynonymous SNV	ACAN:NM_001135:exon12:c.G5147T:p.S1716I	Osteochondritis dissecans, short stature, and early-onset osteoarthritis, Autosomal dominant;Spondyloepimetaphyseal dysplasia, aggrecan type;Spondyloepiphyseal dysplasia, Kimberley type, Autosomal dominant	.	0	1492	29	1	0	31	0.0102819	.	.	1196144	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.02	D	1.0	D	0.998	D	0.002	N	1.000	D	2.65	M	3.62	T	-1.064	T	0.022	T	0.506	3.578	18.23	4.92	1.423	5.118	15.501	0.164	.	8.2e-05	0.0295527	0.0163	0.0003	0.0009	0.0205	0	0.0002	0.0189	0.1060	0.0144241	2230	154602	rs79925540	0.0070	0.0070	0.0044	0.0098	0.1001	0.0069	0.0069	0.0983	0.0976	0.0004	0.0004	0	0.0184	0	0.0038	0.0002	0.0111	0.1001	0.0047	0.0047	0.0031	0.0064	0.1106	0.0044	0.0043	0.1028	0.0997	0.0006	0	0.0005	0	0.0268	0	0	0.0001	0.0014	0.1106	0.0	0.91255	D	0.415	0.24694	T	.	.	.	.	.	.	0.001881	0.37789	N	0.000000	0.874614	0.35629	D	.	.	.	3.55	0.04746	T	-3.94	0.73684	D	0.15	0.45331	-1.0639	0.10807	T	0.022	0.09238	T	10	0.00233683	0.00034	T	.	.	.	0.164	0.42212	.	.	.	.	0.7197601509944354	0.71919	0.836619254689	0.67844	0.507168650627	0.39826	T	.	.	.	-0.404933	0.02149	T	-0.331438	0.41309	T	0.0535739177832831	0.06117	T	0.824218	0.49484	T	0.6429832	0.74990	0.585032	0.75937	0.6574989	0.75766	0.585032	0.75938	-8.981	0.67575	D	0.12465354892255805	0.12266	0.315	0.54123	B	.;.;.;.;.;.	.;.;.;.;.;.	3.917389	0.57168	23.8	0.99638083251245502	0.76449	0.98419	0.82582	D	AEFBI	0.654281	0.62702	D	0.730866682522821	0.81658	7.573601	0.68133681451556	0.80966	7.417242	0.970230948880462	0.29192	0.615465	0.37627	0	0.573888	0.26702	0	0.658983	0.55881	0	0.542086	0.14980	0	.	.	5.86	4.92	0.64147	4.255000	0.58595	8.457000	0.77235	0.671000	0.69459	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.1389:0.8611:0.0	15.501	0.75431	969	0.06854	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	5401.68	100	chr15	88857732	.	G	T	5401.68	.	AC=3;AF=0.071;AN=42;BaseQRankSum=1.42;DP=2570;ExcessHet=0.3300;FS=9.376;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=13.11;ReadPosRankSum=-1.659e+00;SOR=1.216	GT:AD:DP:GQ:PL	0/1:70,71:141:99:2119,0,1989	18	0	3	0
chr15	88858385	88858385	G	C	exonic	ACAN	.	nonsynonymous SNV	ACAN:NM_001135:exon12:c.G5800C:p.V1934L	Osteochondritis dissecans, short stature, and early-onset osteoarthritis, Autosomal dominant;Spondyloepimetaphyseal dysplasia, aggrecan type;Spondyloepiphyseal dysplasia, Kimberley type, Autosomal dominant	.	0	1492	29	1	0	31	0.0102819	.	.	1196146	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.21	T	0.884	P	0.596	P	0.147	N	0.810	N	2.61	M	4.2	T	-1.101	T	0.008	T	0.152	0.930	8.789	-3.18	-0.447	0.041	12.503	0.121	.	.	0.0303514	0.0164	0.0003	0.0009	0.0216	0	0.0002	0.0189	0.1061	0.0145276	2246	154602	rs76282091	0.0071	0.0071	0.0044	0.0098	0.1002	0.0069	0.0069	0.0984	0.0977	0.0004	0.0004	0	0.0188	0	0.0038	0.0002	0.0111	0.1002	0.0047	0.0047	0.0031	0.0064	0.1095	0.0044	0.0043	0.1018	0.0987	0.0006	0	0.0005	0	0.0284	0	0	0.0001	0.0014	0.1095	0.016	0.59928	D	0.057	0.46406	T	.	.	.	.	.	.	0.147168	0.18089	N	0.300241	1	0.08975	N	.	.	.	4.2	0.03354	T	-1.96	0.45404	N	0.117	0.17553	-1.1006	0.04020	T	0.008	0.02926	T	10	0.0016039312	0.00019	T	.	.	.	0.121	0.33580	.	.	.	.	0.29420148835687954	0.29333	0.485768874065	0.47451	0.327430605888	0.14546	T	.	.	.	-0.580975	0.00190	T	-0.584309	0.14162	T	0.0615173059497363	0.07405	T	0.853715	0.55479	D	0.13021646	0.30391	0.13735288	0.32833	0.13426939	0.31202	0.13735288	0.32832	-6.254	0.51410	T	0.12705327745958234	0.12940	0.369	0.59522	A	.;.;.;.;.;.	.;.;.;.;.;.	0.844045	0.12159	8.707	0.88342601587151715	0.17902	0.12361	0.17221	N	AEFBI	0.092211	0.18671	N	-0.470338000125133	0.23056	1.235475	-0.666502628490601	0.17801	0.9481311	0.0137201645894468	0.12501	0.615465	0.37627	0	0.573888	0.26702	0	0.658983	0.55881	0	0.542086	0.14980	0	.	.	5.56	-3.18	0.04867	0.054000	0.14087	-0.161000	0.11322	-0.113000	0.14837	0.007000	0.17678	0.000000	0.08366	0.702000	0.34203	0.4936:0.0:0.5064:0.0	12.503	0.55307	969	0.06854	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.07143	5327.68	97	chr15	88858385	.	G	C	5327.68	.	AC=3;AF=0.071;AN=42;BaseQRankSum=0.255;DP=1899;ExcessHet=0.3300;FS=0.775;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=14.17;ReadPosRankSum=-2.300e-02;SOR=0.758	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:53,64:117:99:.:.:1753,0,1334	18	0	3	0
chr15	89285100	89285100	A	G	exonic	FANCI	.	nonsynonymous SNV	FANCI:NM_001113378:exon18:c.A1703G:p.H568R	Fanconi anemia, complementation group I	.	0	1521	1	0	0	1	0.000328623	.	.	529450	Fanconi_anemia_complementation_group_I|Fanconi_anemia|FANCI-related_disorder	MONDO:MONDO:0012186,MedGen:C1836861,OMIM:609053,Orphanet:84|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650,Orphanet:84|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.37	T	0.004	B	0.002	B	0.005	N	1.000	D	1.61	L	1.62	T	-1.055	T	0.041	T	0.255	0.235	5.269	-4.29	-1.115	2.880	1.124	0.126	0.00240999674037	.	0.000998403	0.0004	0	0	0	0	0	0.0011	0.0026	0.0003169	49	154602	rs555480773	0.0002	0.0002	0.0001	0.0002	0.0025	0.0001	0.0001	0.0022	0.0021	0	0	0	0	0	0	4.497e-06	0.0001	0.0025	5.91e-05	6.562e-05	5.141e-05	6.713e-05	0.0019	3.075e-05	2.209e-05	0.0010	0.0007	0	0	0	0	0	0	0	0	0	0.0019	0.459	0.08762	T	0.22	0.26066	T	0.004	0.12183	B	0.002	0.06944	B	0.004681	0.33486	N	0.374940	0.999204	0.21509	N	1.1	0.28011	L	1.62	0.28189	T	-0.42	0.14978	N	0.296	0.33469	-1.0554	0.12934	T	0.041	0.17446	T	10	0.0076642036	0.00174	T	0.00241	0.04729	T	0.126	0.34673	0.25	0.18757	0.201204373187	0.19734	0.16220117922469793	0.16140	0.0159091030444	0.01523	0.385336816311	0.23010	T	0.054042	0.29613	T	-0.520433	0.00437	T	-0.52558	0.19731	T	0.0187088320047595	0.00584	T	0.729627	0.35112	T	0.019691292	0.00505	0.0293901	0.01272	0.018966703	0.00421	0.030667955	0.01550	-1.995	0.03162	T	0.2526359573915917	0.34178	0.074	0.05188	B	.;.	.;.	1.666075	0.21242	15.11	0.3749864601610039	0.02474	0.93029	0.57147	D	AEFDBI	0.331164	0.43098	N	-0.722341876853262	0.15395	0.7754516	-0.713636403176714	0.16621	0.880153	0.926518999595635	0.26854	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.95	-4.29	0.03465	2.871000	0.48157	2.044000	0.30313	0.756000	0.94297	0.986000	0.36153	0.000000	0.08366	0.998000	0.85391	0.4597:0.1125:0.2316:0.1962	1.124	0.01625	935	0.14827	.;FANCI helical domain 2	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	1	0	0	0	0.02381	1213.98	33	chr15	89285100	.	A	G	1213.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.124e+00;DP=831;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.06;ReadPosRankSum=-6.700e-02;SOR=0.642	GT:AD:DP:GQ:PL	0/1:74,60:134:99:1228,0,1832	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|2:0,30,29:59:99:1|0:89776889_GAGGGGCAGGGGCAAGGGCAGGGGC_G:2444,1155,1112,1213,0,1143:89776889	0	0	0	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	1/1:1,42,0:43:99:.:.:1535,102,0,1538,144,1580	1	6	3	5
chr16	1397281	1397281	G	0	exonic	UNKL	.	.	.	.	.	375	758	197	191	1	580	0.276372	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4412	664.37	55	chr16	1397281	.	G	*,GGGCAGGGCGTGGACCTGGGGATGAGGAGGTGTCAGGGGGACACAGAGGACTTGGCTCCCCCCACCACCCCCGTGCTTCACGCTGT	664.37	.	AC=15,1;AF=0.441,0.029;AN=34;DP=1272;ExcessHet=0.0000;FS=6.118;InbreedingCoeff=0.6818;MLEAC=18,1;MLEAF=0.529,0.029;MQ=59.20;QD=1.28;SOR=0.304	GT:AD:DP:GQ:PL	1/1:1,42,0:43:99:1535,102,0,1538,144,1580	8	6	2	4
chr16	1397281	1397281	-	GGCAGGGCGTGGACCTGGGGATGAGGAGGTGTCAGGGGGACACAGAGGACTTGGCTCCCCCCACCACCCCCGTGCTTCACGCTGT	exonic	UNKL	.	frameshift insertion	UNKL:NM_001193388:exon6:c.748_749insACAGCGTGAAGCACGGGGGTGGTGGGGGGAGCCAAGTCCTCTGTGTCCCCCTGACACCTCCTCATCCCCAGGTCCACGCCCTGCC:p.P250Hfs*36	.	.	375	758	197	191	1	580	0.276372	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0037	0.0036	0	0	0	0.0123	0	0	.	.	.	.	0.0072	0.0076	0.0067	0.0078	0.0160	0.0071	0.0070	0.0121	0.0108	0.0013	0.0130	0.0177	4.298e-05	0.0111	0.0160	0.0069	0.0118	0.0097	0.0064	0.0087	0.0069	0.0058	0.0114	0.0059	0.0058	0.0105	0.0101	0.0016	0.0156	0.0080	0.0172	0	0.0022	0.0061	0.0114	0.0040	0.0026	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4412	664.37	55	chr16	1397281	.	G	*,GGGCAGGGCGTGGACCTGGGGATGAGGAGGTGTCAGGGGGACACAGAGGACTTGGCTCCCCCCACCACCCCCGTGCTTCACGCTGT	664.37	.	AC=15,1;AF=0.441,0.029;AN=34;DP=1272;ExcessHet=0.0000;FS=6.118;InbreedingCoeff=0.6818;MLEAC=18,1;MLEAF=0.529,0.029;MQ=59.20;QD=1.28;SOR=0.304	GT:AD:DP:GQ:PL	1/1:1,42,0:43:99:1535,102,0,1538,144,1580	8	6	2	4
chr16	2967346	2967354	GAGGCCCCC	-	exonic	KREMEN2	.	nonframeshift deletion	KREMEN2:NM_001253725:exon7:c.883_891del:p.A296_E298del	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	155.94	30	chr16	2967345	.	AGAGGCCCCC	A	155.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.712;DP=461;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0245;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.75;ReadPosRankSum=-2.450e-01;SOR=0.301	GT:AD:DP:GQ:PL	0/1:11,5:16:99:170,0,438	20	0	1	0
chr16	2971923	2971923	C	T	exonic	PAQR4	.	nonsynonymous SNV	PAQR4:NM_001284512:exon2:c.C575T:p.A192V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3	T	0.892	P	0.365	B	0.011	N	1.000	D	0.44	N	1.52	T	-1.028	T	0.046	T	0.233	1.940	12.44	4.8	2.229	3.129	11.303	0.058	0.0101980468966	.	.	0.0001	0	0	0	0	0	0	0.0008	7.12e-05	11	154602	rs763074735	3.392e-05	3.694e-05	2.202e-05	4.595e-05	0.0005	2.596e-05	2.339e-05	0.0004	0.0004	0	0	0	0	0	0.0002	0	5.006e-05	0.0005	1.969e-05	1.968e-05	0	4.028e-05	0.0006	5.24e-06	2.45e-06	0.0002	8.989e-05	0	0	0	0	0	0	0	0	0	0.0006	0.024	0.47745	D	0.222	0.26631	T	0.294	0.32391	B	0.084	0.32546	B	0.010724	0.29807	N	0.351373	0.527782	0.81001	D	0.695	0.17993	N	1.52	0.31470	T	-0.94	0.25118	N	0.208	0.45331	-1.0281	0.21070	T	0.046	0.19800	T	10	0.05484107	0.05902	T	0.010198	0.26456	T	0.058	0.16647	0.472	0.54699	0.201204373187	0.19734	0.4894772082907246	0.48867	0.173795782783	0.19568	0.455185115337	0.32652	T	0.037783	0.24604	T	-0.429492	0.01493	T	-0.496131	0.22748	T	0.075995800779175	0.09467	T	0.915608	0.69895	D	0.09857346	0.23251	0.09445038	0.22356	0.09857346	0.23251	0.09445038	0.22355	-5.232	0.42434	T	.	.	0.158	0.34927	B	.;.;.;.;.	.;.;.;.;.	3.443121	0.47909	22.5	0.99582623571504481	0.73099	0.98600	0.84554	D	AEFDGBHCI	0.490041	0.52769	N	-0.0492908979528663	0.39634	2.340457	0.0814641516395854	0.43616	2.659776	0.999999997165679	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.606735	0.37207	0	0.636168	0.56350	0	.	.	4.8	4.8	0.61157	1.673000	0.37150	5.927000	0.51257	0.599000	0.40250	0.976000	0.34826	1.000000	0.68203	0.977000	0.56843	0.0:0.8155:0.1845:0.0	11.303	0.48552	862	0.33134	.;.;.;.;.	.	.	.	.	.	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	822.98	36	chr16	2971923	.	C	T	822.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.380e-01;DP=707;ExcessHet=0.0000;FS=1.335;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=19.14;ReadPosRankSum=1.76;SOR=0.417	GT:AD:DP:GQ:PL	0/1:14,29:43:99:837,0,349	20	0	1	0
chr16	5084778	5084778	C	A	exonic	ALG1	.	nonsynonymous SNV	ALG1:NM_001330504:exon13:c.C959A:p.A320E	Congenital disorder of glycosylation, type Ik, Autosomal recessive	.	207	1304	10	1	0	12	0.00458015	.	.	1038442	not_provided|Inborn_genetic_diseases	MedGen:C3661900|MeSH:D030342,MedGen:C0950123	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	1	T	0.006	B	0.005	B	0.844	N	1.000	N	0.63	N	-0.87	T	-0.970	T	0.176	T	0.205	-1.975	0.007	0.271	0.186	0.514	6.990	0.051	0.0392513883211	.	.	.	.	.	.	.	.	.	.	.	.	.	rs370439294	0	2.736e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	7.268e-05	0.0006	6.459e-05	8.115e-05	0.0002	3.993e-05	3.143e-05	9.657e-05	7.029e-05	0.0002	0	0	0	0	0	0	2.944e-05	0	0.0002	1.0	0.00964	T	1.0	0.01155	T	0.006	0.13644	B	0.005	0.11217	B	0.844000	0.09012	N	0.933266	1	0.08975	N	1.01	0.25309	L	-0.87	0.74583	T	0.75	0.02099	N	0.07	0.04913	-0.9704	0.37115	T	0.176	0.52021	T	10	0.050075233	0.04687	T	0.039251	0.58699	D	0.051	0.14325	0.398	0.42590	0.569705540864	0.56636	0.3334758727207182	0.33260	1.36290245596	0.84381	0.335656493902	0.15787	T	0.037257	0.24409	T	-0.13319	0.30981	T	-0.429094	0.30037	T	0.0221786505885773	0.00930	T	0.289271	0.05243	T	0.038093913	0.05009	0.079438284	0.17883	0.038093913	0.05009	0.079438284	0.17883	-4.712	0.35509	T	0.0570100174691765	0.01359	0.106	0.19800	B	.;.;.	.;.;.	0.289681	0.06659	3.161	0.79965488561863474	0.12983	0.05878	0.11826	N	AEFCI	0.063648	0.12314	N	-1.25572321595909	0.04225	0.1902526	-1.21297390761187	0.05701	0.2723729	1.339514752108E-5	0.02871	0.706548	0.73137	0	0.702456	0.74545	0	0.26897	0.05253	2	0.714379	0.83352	0	.	.	5.05	0.271	0.14894	0.658000	0.24662	0.277000	0.16723	-0.849000	0.02733	0.187000	0.24151	0.001000	0.17328	0.096000	0.18090	0.2908:0.5493:0.0:0.1599	6.990	0.23933	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	1	0	0	0	0.04762	58.11	72	chr16	5084778	.	C	A	58.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-1.554e+00;DP=912;ExcessHet=0.1072;FS=0.816;InbreedingCoeff=-0.0497;MLEAC=2;MLEAF=0.048;MQ=55.98;MQRankSum=-5.364e+00;QD=0.40;ReadPosRankSum=-1.561e+00;SOR=0.815	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:64,9:73:19:.:.:19,0,1757	19	0	2	0
chr16	10694437	10694437	G	A	exonic	TEKT5	.	nonsynonymous SNV	TEKT5:NM_144674:exon1:c.C437T:p.S146L,	.	.	429	1073	20	0	0	20	0.00923361	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09	T	0.008	B	0.015	B	0.011	N	0.906	D	1.5	L	4.2	T	-0.952	T	0.007	T	0.434	2.025	12.73	3.42	0.735	1.893	5.269	0.063	0.00594128210265	.	0.00139776	0.0033	0.0010	0.0015	0.0001	0.0014	0.0048	0.0067	0.0021	0.0032988	510	154602	rs182259799	0.0039	0.0039	0.0038	0.0040	0.0083	0.0038	0.0038	0.0064	0.0058	0.0010	0.0021	0.0012	7.557e-05	0.0013	0.0083	0.0045	0.0034	0.0026	0.0036	0.0036	0.0039	0.0034	0.0056	0.0034	0.0033	0.0051	0.0049	0.0009	0.0352	0.0040	0.0026	0	0.0012	0	0.0056	0.0052	0.0025	0.053	0.38863	T	0.17	0.30436	T	0.008	0.14655	B	0.015	0.17295	B	0.010783	0.29783	N	0.237921	0.906132	0.36292	D	1.685	0.43254	L	4.2	0.02689	T	-3.66	0.70067	D	0.398	0.43899	-0.9522	0.40590	T	0.007	0.02244	T	10	0.0095191	0.00215	T	0.005941	0.15490	T	0.063	0.18251	.	.	0.343334270461	0.33943	0.19958566813189554	0.19875	0.0256709156631	0.02623	0.381252229214	0.22435	T	0.026231	0.19457	T	-0.489774	0.00652	T	-0.471176	0.25390	T	0.0260696188307023	0.01416	T	0.758124	0.38180	T	0.22575502	0.45242	0.36151037	0.61573	0.22575502	0.45242	0.36151037	0.61573	-7.003	0.54055	T	.	.	0.084	0.09723	B	.	.	2.015058	0.25606	16.82	0.99634708209895206	0.76264	0.48311	0.28178	N	AEFDBI	0.256816	0.37567	N	-0.379759716877153	0.26191	1.427545	-0.30052372556543	0.28083	1.562977	0.921079784247375	0.26658	0.553676	0.25195	0	0.588015	0.36545	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.4	3.42	0.38259	2.034000	0.40767	.	.	0.676000	0.76740	0.184000	0.24113	0.803000	0.26967	0.450000	0.27895	0.078:0.1439:0.6292:0.1489	5.269	0.14926	970	0.06235	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1284.98	34	chr16	10694437	.	G	A	1284.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.34;DP=955;ExcessHet=0.0000;FS=2.355;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.36;ReadPosRankSum=-2.260e-01;SOR=0.954	GT:AD:DP:GQ:PL	0/1:73,51:124:99:1299,0,1775	20	0	1	0
chr16	11915680	11915682	CCG	-	exonic	GSPT1	.	nonframeshift deletion	GSPT1:NM_001130006:exon1:c.39_41del:p.G16del	.	.	8	113	9	2	94	107	0.0543933	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.381	4985.65	21	chr16	11915673	.	CCCGCCGCCG	CCCGCCG,CCCGCCGCCGCCG,C,CCCGCCGCCGCCGCCGCCGCCG	4985.65	.	AC=1,12,2,1;AF=0.024,0.286,0.048,0.024;AN=42;BaseQRankSum=0.336;DP=705;ExcessHet=4.5793;FS=0.826;InbreedingCoeff=-0.2115;MLEAC=1,12,2,1;MLEAF=0.024,0.286,0.048,0.024;MQ=60.00;MQRankSum=0.00;QD=13.97;ReadPosRankSum=0.494;SOR=0.743	GT:AD:DP:GQ:PL	0/3:15,0,0,9,0:24:99:333,378,1008,378,1008,1008,0,630,630,602,378,1008,1008,630,1008	7	0	1	0
chr16	11915682	11915682	-	CCG	exonic	GSPT1	.	nonframeshift insertion	GSPT1:NM_001130006:exon1:c.38_39insCGG:p.G16_S17insG	.	.	296	676	315	99	136	649	0.275067	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.381	4985.65	21	chr16	11915673	.	CCCGCCGCCG	CCCGCCG,CCCGCCGCCGCCG,C,CCCGCCGCCGCCGCCGCCGCCG	4985.65	.	AC=1,12,2,1;AF=0.024,0.286,0.048,0.024;AN=42;BaseQRankSum=0.336;DP=705;ExcessHet=4.5793;FS=0.826;InbreedingCoeff=-0.2115;MLEAC=1,12,2,1;MLEAF=0.024,0.286,0.048,0.024;MQ=60.00;MQRankSum=0.00;QD=13.97;ReadPosRankSum=0.494;SOR=0.743	GT:AD:DP:GQ:PL	0/3:15,0,0,9,0:24:99:333,378,1008,378,1008,1008,0,630,630,602,378,1008,1008,630,1008	7	0	1	0
chr16	11915682	11915682	-	CCGCCGCCGCCG	exonic	GSPT1	.	nonframeshift insertion	GSPT1:NM_001130006:exon1:c.38_39insCGGCGGCGGCGG:p.G16_S17insGGGG	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.381	4985.65	21	chr16	11915673	.	CCCGCCGCCG	CCCGCCG,CCCGCCGCCGCCG,C,CCCGCCGCCGCCGCCGCCGCCG	4985.65	.	AC=1,12,2,1;AF=0.024,0.286,0.048,0.024;AN=42;BaseQRankSum=0.336;DP=705;ExcessHet=4.5793;FS=0.826;InbreedingCoeff=-0.2115;MLEAC=1,12,2,1;MLEAF=0.024,0.286,0.048,0.024;MQ=60.00;MQRankSum=0.00;QD=13.97;ReadPosRankSum=0.494;SOR=0.743	GT:AD:DP:GQ:PL	0/3:15,0,0,9,0:24:99:333,378,1008,378,1008,1008,0,630,630,602,378,1008,1008,630,1008	7	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	1/1:1,221,0:222:99:.:.:7010,654,0,7013,661,7020	2	11	4	0
chr16	12704921	12704921	C	T	exonic	CPPED1	.	nonsynonymous SNV	CPPED1:NM_018340:exon3:c.G418A:p.E140K,	.	.	424	1053	44	1	0	46	0.0213755	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.92	T	0.003	B	0.009	B	0.182	N	1.000	N	1.47	L	-1.87	D	-0.896	T	0.210	T	0.153	-0.799	0.678	2.26	0.229	1.041	2.229	0.173	.	0.0075	0.00539137	0.0065	0.0024	0.0080	0.0001	0.0061	0.0084	0.0144	0.0031	0.0064488	997	154602	rs149102231	0.0062	0.0062	0.0062	0.0063	0.0499	0.0061	0.0061	0.0452	0.0433	0.0036	0.0083	0.0356	5.038e-05	0.0050	0.0499	0.0057	0.0093	0.0026	0.0063	0.0063	0.0061	0.0064	0.0088	0.0059	0.0058	0.0076	0.0072	0.0024	0.0329	0.0088	0.0369	0	0.0057	0.0510	0.0065	0.0128	0.0033	0.856	0.02698	T	0.859	0.03418	T	0.003	0.11197	B	0.009	0.14300	B	0.182096	0.17075	N	0.643319	0.999965	0.19781	N	1.61	0.41143	L	-1.87	0.84415	D	-0.65	0.18877	N	0.133	0.12913	-0.8958	0.48408	T	0.210	0.56959	T	10	0.0033424199	0.00058	T	.	.	.	0.173	0.43840	.	.	0.334161072951	0.33023	0.5121376107525119	0.51135	0.0585219304848	0.06489	0.302525937557	0.10778	T	0.056636	0.30342	T	-0.411351	0.01947	T	-0.358245	0.38256	T	0.000492272297246034	0.00004	T	0.60384	0.22664	T	0.05335536	0.10085	0.048856646	0.07343	0.05335536	0.10084	0.048856646	0.07342	-6.533	0.50540	T	.	.	0.088	0.11461	B	.	.	0.915870	0.12904	9.415	0.77108861031554243	0.11740	0.19229	0.20579	N	AEFBI	0.140660	0.26262	N	-1.08559637687677	0.06908	0.3193624	-1.07588644487941	0.08177	0.4008957	3.89740331531611E-4	0.06781	0.706298	0.61202	0	0.633656	0.55848	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.32	2.26	0.27418	1.081000	0.30402	-0.311000	0.10039	-0.181000	0.10308	0.088000	0.22533	0.000000	0.08366	0.221000	0.22489	0.1582:0.5187:0.1534:0.1696	2.229	0.03747	964	0.07719	Calcineurin-like phosphoesterase domain, ApaH type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	4253.11	35	chr16	12704921	.	C	T	4253.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.740;DP=988;ExcessHet=0.1072;FS=4.483;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=13.54;ReadPosRankSum=0.184;SOR=0.495	GT:AD:DP:GQ:PL	0/1:79,74:153:99:1860,0,2068	19	0	2	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	0/1:74,50:148:99:225,0,1297	1	0	20	0
chr16	14667708	14667711	CCCC	-	exonic	BFAR	.	frameshift deletion	BFAR:NM_001330500:exon6:c.859_862del:p.P287Sfs*45	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1905	1565.86	33	chr16	14667707	.	GCCCC	G	1565.86	.	AC=8;AF=0.190;AN=42;BaseQRankSum=-5.750e-01;DP=1119;ExcessHet=3.5521;FS=95.623;InbreedingCoeff=-0.2353;MLEAC=8;MLEAF=0.190;MQ=60.00;MQRankSum=0.00;QD=2.47;ReadPosRankSum=0.627;SOR=9.570	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:50,12:62:65:0|1:14667707_GCCCC_G:65,0,1835:14667707	13	0	8	0
chr16	14667711	14667711	-	GGGG	exonic	BFAR	.	frameshift insertion	BFAR:NM_001330500:exon6:c.862_863insGGGG:p.L288Rfs*19	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	1543.44	38	chr16	14667711	.	C	CGGGG,CGGGA,CTGGG	1543.44	.	AC=6,1,1;AF=0.150,0.025,0.025;AN=40;BaseQRankSum=-2.910e-01;DP=1215;ExcessHet=3.5521;FS=95.623;InbreedingCoeff=-0.2571;MLEAC=6,1,1;MLEAF=0.150,0.025,0.025;MQ=60.00;MQRankSum=0.00;QD=2.44;ReadPosRankSum=0.612;SOR=9.570	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:50,0,12,0:62:65:0|1:14667707_GCCCC_G:65,213,2082,0,1869,1835,213,2082,1869,2082:14667707	12	0	6	1
chr16	14667711	14667711	-	GGGA	exonic	BFAR	.	frameshift insertion	BFAR:NM_001330500:exon6:c.862_863insGGGA:p.L288Rfs*19	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	1543.44	38	chr16	14667711	.	C	CGGGG,CGGGA,CTGGG	1543.44	.	AC=6,1,1;AF=0.150,0.025,0.025;AN=40;BaseQRankSum=-2.910e-01;DP=1215;ExcessHet=3.5521;FS=95.623;InbreedingCoeff=-0.2571;MLEAC=6,1,1;MLEAF=0.150,0.025,0.025;MQ=60.00;MQRankSum=0.00;QD=2.44;ReadPosRankSum=0.612;SOR=9.570	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:50,0,12,0:62:65:0|1:14667707_GCCCC_G:65,213,2082,0,1869,1835,213,2082,1869,2082:14667707	12	0	6	1
chr16	14667711	14667711	-	TGGG	exonic	BFAR	.	frameshift insertion	BFAR:NM_001330500:exon6:c.862_863insTGGG:p.I289Gfs*18	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	1543.44	38	chr16	14667711	.	C	CGGGG,CGGGA,CTGGG	1543.44	.	AC=6,1,1;AF=0.150,0.025,0.025;AN=40;BaseQRankSum=-2.910e-01;DP=1215;ExcessHet=3.5521;FS=95.623;InbreedingCoeff=-0.2571;MLEAC=6,1,1;MLEAF=0.150,0.025,0.025;MQ=60.00;MQRankSum=0.00;QD=2.44;ReadPosRankSum=0.612;SOR=9.570	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:50,0,12,0:62:65:0|1:14667707_GCCCC_G:65,213,2082,0,1869,1835,213,2082,1869,2082:14667707	12	0	6	1
chr16	14726177	14726177	C	0	exonic	NPIPA2;NPIPA3	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	723.05	7	chr16	14726177	.	C	T,*	723.05	.	AC=11,1;AF=0.306,0.028;AN=36;BaseQRankSum=-2.530e-01;DP=150;ExcessHet=1.2501;FS=3.780;InbreedingCoeff=-0.0715;MLEAC=12,1;MLEAF=0.333,0.028;MQ=24.72;MQRankSum=-5.240e-01;QD=10.96;ReadPosRankSum=0.036;SOR=1.239	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:2,3,0:5:34:.:.:61,0,34,67,43,111	8	2	7	3
chr16	20548404	20548404	C	T	exonic	ACSM2B	.	nonsynonymous SNV	ACSM2B:NM_001105069:exon7:c.G964A:p.D322N	.	.	413	1093	14	2	0	18	0.00816697	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.11	T	0.066	B	0.046	B	0.005	N	1.000	D	1.875	L	1.02	T	-1.008	T	0.072	T	0.029	3.468	17.75	3.61	2.006	2.341	8.555	0.107	.	0.0081	0.00279553	0.0069	0.0018	0.0061	0	0.0029	0.0096	0.0077	0.0047	0.0068498	1059	154602	rs138313532	0.0089	0.0089	0.0088	0.0090	0.0102	0.0087	0.0087	0.0100	0.0100	0.0019	0.0062	0.0052	5.038e-05	0.0042	0.0085	0.0102	0.0084	0.0043	0.0072	0.0072	0.0077	0.0068	0.0116	0.0069	0.0067	0.0102	0.0099	0.0021	0	0.0116	0.0049	0.0002	0.0033	0.0340	0.0108	0.0099	0.0031	0.108	0.31532	T	0.103	0.42086	T	0.066	0.23586	B	0.046	0.24676	B	0.004552	0.33627	N	0.133616	0.684231	0.30250	N	2.015	0.55033	M	1.02	0.40749	T	-3.04	0.62863	D	0.297	0.39558	-1.0081	0.27510	T	0.072	0.29387	T	10	0.00947082	0.00214	T	.	.	.	0.107	0.30369	.	.	0.502379540653	0.49875	0.337674247997547	0.33680	0.994442852955	0.74171	0.495998859406	0.38270	T	0.048547	0.28050	T	-0.642216	0.00081	T	-0.68588	0.06631	T	0.018477831571885	0.00563	T	0.886711	0.61387	D	0.15227015	0.34575	0.1588701	0.37079	0.15227015	0.34574	0.1588701	0.37078	-4.675	0.33100	T	.	.	0.114	0.27009	B	.;.;.;.;.;.	.;.;.;.;.;.	2.703459	0.35316	19.87	0.99540422647190474	0.70461	0.72619	0.35538	D	AEFGI	0.368987	0.45589	N	-0.0980886096361625	0.37475	2.180818	-0.0177576955527576	0.38912	2.299463	2.20696107365394E-4	0.05997	0.487112	0.14033	0	0.547309	0.14657	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	3.61	3.61	0.40494	2.268000	0.42996	1.982000	0.30038	0.413000	0.20698	0.994000	0.38300	0.946000	0.28899	0.760000	0.36145	0.0:0.8883:0.0:0.1116	8.555	0.32637	754	0.51307	AMP-dependent synthetase/ligase;AMP-dependent synthetase/ligase;AMP-dependent synthetase/ligase;AMP-dependent synthetase/ligase;AMP-dependent synthetase/ligase;AMP-dependent synthetase/ligase	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1823.98	36	chr16	20548404	.	C	T	1823.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.240e-01;DP=784;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=44.10;MQRankSum=-3.239e+00;QD=17.54;ReadPosRankSum=-3.110e-01;SOR=0.654	GT:AD:DP:GQ:PL	0/1:36,68:104:99:1838,0,864	20	0	1	0
chr16	21643571	21643571	C	T	exonic	IGSF6	.	nonsynonymous SNV	IGSF6:NM_005849:exon4:c.G562A:p.E188K,	.	.	445	1061	14	2	0	18	0.00841121	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.48	T	0.022	B	0.03	B	0.489	N	1.000	N	1.59	L	1.92	T	-1.020	T	0.040	T	0.072	0.744	7.948	3.77	0.868	1.331	9.263	0.042	.	0.0072	0.00419329	0.0065	0.0021	0.0069	0	0.0055	0.0095	0.0078	0.0007	0.0067075	1037	154602	rs77836477	0.0084	0.0086	0.0085	0.0083	0.0098	0.0083	0.0082	0.0096	0.0096	0.0013	0.0062	0.0098	2.53e-05	0.0047	0.0077	0.0098	0.0079	0.0007	0.0065	0.0065	0.0070	0.0060	0.0109	0.0062	0.0060	0.0102	0.0100	0.0015	0.0022	0.0067	0.0086	0	0.0027	0.0102	0.0109	0.0104	0.0002	0.142	0.25457	T	0.483	0.11795	T	0.022	0.18677	B	0.03	0.21741	B	0.488727	0.12081	N	0.769973	0.893976	0.81001	N	1.31	0.32734	L	1.92	0.23082	T	-2.04	0.46842	N	0.175	0.18784	-1.0205	0.23551	T	0.040	0.17277	T	10	0.0027594566	0.00043	T	.	.	.	0.042	0.11227	.	.	0.0806252709748	0.07271	0.25484800317108364	0.25398	0.190108669727	0.21326	0.419275164604	0.27737	T	0.044407	0.26805	T	-0.620615	0.00109	T	-0.652571	0.08775	T	0.00892801357345153	0.00111	T	.	.	.	0.20146799	0.42159	0.16036145	0.37354	0.20146799	0.42159	0.16036145	0.37353	-3.225	0.12788	T	.	.	0.100	0.16973	B	.	.	2.736694	0.35835	20.0	0.76989183905531133	0.11691	0.75355	0.36891	D	AEFI	0.187284	0.31458	N	-0.241100633681599	0.31461	1.764272	-0.0889499903354341	0.35846	2.078725	0.999953954681856	0.48110	0.554377	0.28877	0	0.588066	0.40923	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	5.75	3.77	0.42499	0.964000	0.28903	1.069000	0.23788	0.599000	0.40250	0.979000	0.35152	0.546000	0.25442	0.996000	0.76049	0.0:0.8309:0.0:0.1691	9.263	0.36786	594	0.68584	.	RRN3P1|METTL9|METTL9|CTB-31N19.3	Adipose_Visceral_Omentum|Colon_Transverse|Whole_Blood|Whole_Blood	SMG1P3	Skin_Sun_Exposed_Lower_leg	rs77836477	Uncertain significance	0	0	0	0	0	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	512.98	38	chr16	21643571	.	C	T	512.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.999;DP=743;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.50;ReadPosRankSum=1.74;SOR=0.582	GT:AD:DP:GQ:PL	0/1:32,22:54:99:527,0,777	20	0	1	0
chr16	28343175	28343175	G	A	exonic	NPIPB6	.	nonsynonymous SNV	NPIPB6:NM_001282524:exon7:c.C710T:p.A237V,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.24	T	0.623	P	0.518	P	.	.	1.000	N	1.15	L	0.46	T	-0.964	T	0.139	T	0.254	1.185	9.818	0.167	0.276	0.704	.	0.094	0.00311485434991	.	0.00179712	0.0006	0.0071	0.0006	0	0	8.653e-05	0	0	0.0004995	13	26028	rs554173419	0.0002	0.0002	0.0002	0.0002	0.0075	0.0002	0.0002	0.0067	0.0064	0.0075	0.0002	0	0	0	0.0012	7.219e-06	0.0005	1.164e-05	0.0017	0.0017	0.0016	0.0019	0.0060	0.0016	0.0015	0.0053	0.0051	0.0060	0	0.0006	0	0	0	0	1.524e-05	0.0005	0	0.113	0.28772	T	0.061	0.49942	T	0.623	0.39993	P	0.518	0.48133	P	.	.	.	.	1	0.08975	N	2.475	0.71894	M	0.46	0.56281	T	-2.62	0.56630	D	0.341	0.40665	-0.9644	0.38330	T	0.139	0.45715	T	8	0.014442831	0.00304	T	0.003115	0.06756	T	0.094	0.27141	0.688	0.82558	0.392130519673	0.38828	0.007687900325693228	0.00734	2.16975927776	0.95486	.	.	.	0.052426	0.29158	T	-0.461932	0.00956	T	-0.434253	0.29453	T	0.0489806064449253	0.05320	T	0.861414	0.55526	D	0.411285	0.61506	0.37671778	0.62788	0.411285	0.61507	0.37671778	0.62788	-3.493	0.16334	T	.	.	0.357	0.57022	A	.;.	.;.	0.829219	0.12004	8.564	0.9898366607501774	0.49780	0.00493	0.02333	N	AEFI	0.031736	0.03452	N	-0.836421125766518	0.12387	0.6034664	-1.05262879312206	0.08652	0.4264737	1.14462678867054E-6	0.01202	0.638212	0.43195	0	0.670034	0.63936	0	0.618467	0.43123	0	0.620846	0.47308	0	.	.	0.167	0.167	0.14292	0.785000	0.26491	0.132000	0.15059	0.282000	0.18639	0.003000	0.16062	0.000000	0.08366	0.003000	0.05239	.	.	.	824	0.40336	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	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	2648.0	42	chr16	28343175	.	G	A	2648.0	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.847e+00;DP=1130;ExcessHet=0.0000;FS=15.723;InbreedingCoeff=-0.0259;MLEAC=1;MLEAF=0.024;MQ=44.94;MQRankSum=2.45;QD=16.45;ReadPosRankSum=-4.010e-01;SOR=0.188	GT:AD:DP:GQ:PL	0/1:65,96:161:99:2662,0,1740	20	0	1	0
chr16	28595386	28595387	AG	-	exonic	SULT1A2	.	frameshift deletion	SULT1A2:NM_001054:exon4:c.352_353del:p.L118Vfs*76	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1170117401	2.052e-06	2.052e-06	1.361e-06	2.75e-06	2.698e-06	5.5e-07	1.5e-07	7.2e-07	2e-07	0	0	0	0	0	0	2.698e-06	0	0	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	3036.94	34	chr16	28595385	.	CAG	C	3036.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.624;DP=868;ExcessHet=0.0000;FS=2.021;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.87;MQRankSum=0.00;QD=19.59;ReadPosRankSum=-1.669e+00;SOR=0.864	GT:AD:DP:GQ:PL	0/1:75,80:155:99:3051,0,2907	20	0	1	0
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|1:153,29,0:182:99:0|1:29485610_ACACACTC_A:436,0,5500,887,5585,6473:29485610	7	0	12	0
chr16	47641059	47641059	G	C	exonic	PHKB	.	nonsynonymous SNV	PHKB:NM_000293:exon15:c.G1483C:p.V495L	Phosphorylase kinase deficiency of liver and muscle, autosomal recessive, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	0.179	B	0.192	B	0.000	D	1.000	D	2.245	M	-3.39	D	0.517	D	0.774	D	0.611	2.766	15.21	4.92	1.481	3.616	10.748	0.624	0.0799884558406	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.058	0.37750	T	0.064	0.44905	T	0.128	0.28995	B	0.119	0.36449	B	0.000139	0.49741	D	0.182769	0.999996	0.58761	D	2.255	0.64187	M	-3.39	0.94210	D	-1.77	0.41809	N	0.666	0.71854	0.517	0.90786	D	0.774	0.92311	D	10	0.7715538	0.77123	D	0.079988	0.73359	D	0.624	0.85459	0.639	0.77579	0.924797728156	0.92402	0.610654613559572	0.60997	0.236161927516	0.26150	0.584076762199	0.50660	T	0.496819	0.81895	T	0.197675	0.73673	D	0.0461701	0.73331	D	0.909685373306274	0.56466	D	0.953105	0.82105	D	0.123387344	0.28974	0.13238269	0.31769	0.123387344	0.28974	0.13238269	0.31768	-8.772	0.66217	D	.	.	0.401	0.62587	A	.;.;.	.;.;.	2.270213	0.29014	17.99	0.99456583358511597	0.65581	0.93421	0.58172	D	AEFBI	0.414426	0.48369	N	0.144348817968195	0.48546	3.065441	0.254838226302525	0.52925	3.464202	0.932824628998896	0.27104	0.732398	0.92422	0	0.743671	0.97443	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	5.87	4.92	0.64147	3.851000	0.55634	5.158000	0.47781	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.983000	0.59808	0.146:0.0:0.854:0.0	10.748	0.45391	166	0.93555	.;.;GH15-like domain	.	.	.	.	.	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	1717.98	33	chr16	47641059	.	G	C	1717.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.109e+00;DP=842;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.77;ReadPosRankSum=-1.420e+00;SOR=0.703	GT:AD:DP:GQ:PL	0/1:75,71:146:99:1732,0,1999	20	0	1	0
chr16	55846471	55846471	A	G	exonic	CES5A	.	nonsynonymous SNV	CES5A:NM_145024:exon12:c.T1558C:p.F520L	.	.	428	1090	4	0	0	4	0.0018315	.	.	2336363	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	1	T	0.001	B	0.002	B	0.673	N	1.000	N	0	N	-0.03	T	-1.012	T	0.082	T	0.127	0.660	7.536	-1.63	-0.393	0.162	0.910	0.056	0.011465063853	.	.	5.809e-05	0	8.655e-05	0	0	6.043e-05	0	0.0001	5.17e-05	8	154602	rs752945026	0.0001	0.0001	8.987e-05	0.0001	0.0035	8.85e-05	8.335e-05	0.0023	0.0019	2.988e-05	6.71e-05	7.652e-05	0	1.873e-05	0.0035	7.916e-05	0.0002	0.0003	0.0001	0.0001	0.0002	5.378e-05	0.0002	7.575e-05	6.28e-05	0.0001	0.0001	2.411e-05	0	0	0	0	0	0	0.0002	0.0010	0	0.177	0.22224	T	0.68	0.06109	T	0.001	0.07471	B	0.002	0.06944	B	0.672753	0.10327	N	0.820175	1	0.08975	N	0.55	0.14455	N	-0.18	0.67543	T	-0.04	0.07882	N	0.111	0.12055	-1.0121	0.26259	T	0.082	0.32207	T	10	0.045092493	0.03539	T	0.011465	0.29107	T	0.056	0.15993	0.281	0.23642	0.0762999501168	0.06990	0.18913729509285987	0.18831	0.0529550830812	0.05838	0.341424584389	0.16652	T	0.006434	0.05862	T	-0.412198	0.01922	T	-0.537721	0.18521	T	0.0211068860408397	0.00812	T	0.716728	0.32905	T	0.04356672	0.06811	0.044820726	0.05893	0.04356672	0.06811	0.044820726	0.05892	-1.538	0.02043	T	.	.	0.215	0.51262	B	.;.;.;.;.;.	.;.;.;.;.;.	0.251680	0.06311	2.768	0.56200009552516028	0.05501	0.01133	0.04117	N	AEFBI	0.053113	0.09541	N	-1.3264929457529	0.03375	0.1506531	-1.32023581721601	0.04169	0.1960781	0.381446806880549	0.19964	0.487112	0.14033	0	0.59043	0.45803	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.05	-1.63	0.07900	0.166000	0.16400	0.090000	0.14504	0.756000	0.94297	0.020000	0.19661	0.000000	0.08366	0.020000	0.11549	0.3768:0.1546:0.3011:0.1676	0.910	0.01211	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	1093.98	93	chr16	55846471	.	A	G	1093.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.347;DP=1227;ExcessHet=0.0000;FS=0.797;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.16;ReadPosRankSum=-1.580e-01;SOR=0.581	GT:AD:DP:GQ:PL	0/1:50,40:90:99:1108,0,1328	20	0	1	0
chr16	56983367	56983367	G	A	exonic	CETP	.	nonsynonymous SNV	CETP:NM_001286085:exon14:c.G1183A:p.V395M	Hyperalphalipoproteinemia, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	1623164	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.02	D	0.834	P	0.11	B	0.221	U	0.993	N	0	N	2.75	T	-0.993	T	0.012	T	0.174	2.504	14.33	3.16	0.668	0.994	8.409	0.039	0.0509307332073	0.0002	.	9.886e-05	0.0012	0	0	0	0	0	0	7.76e-05	12	154602	rs2228667	4.994e-05	4.994e-05	6.806e-05	3.163e-05	0.0008	4.059e-05	3.734e-05	0.0006	0.0005	0.0008	6.708e-05	0	2.519e-05	0	0.0002	2.698e-05	0.0001	2.319e-05	0.0002	0.0002	0.0003	0.0001	0.0007	0.0002	0.0001	0.0005	0.0005	0.0007	0	6.535e-05	0	0	0	0	1.47e-05	0	0	0.015	0.55530	D	0.027	0.55341	D	0.834	0.46206	P	0.11	0.31460	B	0.220905	0.16140	U	0.497607	0.99285	0.23814	N	0.345	0.11182	N	2.75	0.11622	T	-0.46	0.14978	N	0.184	0.23253	-0.9929	0.31853	T	0.012	0.04510	T	10	0.045701027	0.03673	T	0.050931	0.64450	D	0.039	0.10176	.	.	0.259272394797	0.25527	0.2864631998160851	0.28559	0.180695116647	0.20323	0.392979204655	0.24089	T	0.127807	0.45507	T	-0.532427	0.00372	T	-0.593919	0.13328	T	0.026644460713475	0.01494	T	0.794021	0.46320	T	0.11137051	0.26318	0.11190017	0.26996	0.13747312	0.31828	0.11933966	0.28805	-4.663	0.33222	T	0.13840130564879186	0.15311	0.127	0.26947	B	.;.;.	.;.;.	2.279972	0.29148	18.03	0.99052718801258888	0.51298	0.23192	0.21996	N	AEFDGBI	0.297213	0.40685	N	-0.598034355206392	0.19003	0.9912402	-0.534525571184505	0.21218	1.146784	0.999997189821977	0.74766	0.51972	0.21558	0	0.522029	0.08744	0	0.578056	0.29568	0	0.604944	0.38103	0	.	.	3.16	3.16	0.35406	2.211000	0.42465	0.353000	0.17497	-0.177000	0.10537	1.000000	0.71638	0.985000	0.30750	0.080000	0.17246	0.0:0.7577:0.2423:0.0	8.409	0.31791	851	0.35303	Lipid-binding serum glycoprotein, C-terminal|Lipid-binding serum glycoprotein, C-terminal;Lipid-binding serum glycoprotein, C-terminal|Lipid-binding serum glycoprotein, C-terminal;Lipid-binding serum glycoprotein, C-terminal|Lipid-binding serum glycoprotein, C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.02381	1325.98	34	chr16	56983367	.	G	A	1325.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.64;DP=827;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.12;ReadPosRankSum=2.30;SOR=0.689	GT:AD:DP:GQ:PL	0/1:77,54:131:99:1340,0,1947	20	0	1	0
chr16	57379748	57379748	C	T	exonic	CX3CL1	.	nonsynonymous SNV	CX3CL1:NM_002996:exon2:c.C185T:p.A62V,	.	.	425	1090	7	0	0	7	0.00320073	.	.	703750	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0	D	0.943	P	0.574	P	0.000	D	1.000	N	3.47	M	1.81	T	-0.827	T	0.097	T	0.778	3.482	17.81	3.2	2.128	0.962	10.242	0.248	0.0331361722118	0.0048	0.00159744	0.0058	0.0011	0.0009	0.0002	0.0077	0.0088	0.0055	0.0021	0.0057179	884	154602	rs62037084	0.0062	0.0062	0.0062	0.0061	0.0072	0.0061	0.0060	0.0071	0.0070	0.0009	0.0011	0.0008	0.0001	0.0054	0.0050	0.0072	0.0049	0.0028	0.0046	0.0046	0.0047	0.0044	0.0080	0.0043	0.0042	0.0075	0.0072	0.0009	0	0.0014	0.0012	0	0.0062	0	0.0080	0.0061	0.0017	0.069	0.36709	T	0.124	0.35582	T	0.943	0.53072	P	0.574	0.49998	P	0.000020	0.62929	D	0.000000	0.631516	0.81001	D	3.36	0.91202	M	1.81	0.25182	T	-3.26	0.65397	D	0.469	0.50508	-0.8270	0.53493	T	0.097	0.36496	T	10	0.010627687	0.00236	T	0.033136	0.54769	D	0.248	0.55615	.	.	0.168254554758	0.16434	0.9178716987422061	0.91763	1.01601232605	0.74955	0.369462907314	0.20755	T	0.379775	0.74245	T	-0.275595	0.11140	T	-0.162393	0.58135	T	0.0666939952582538	0.08179	T	0.632437	0.25008	T	0.39072108	0.60083	0.23893361	0.49229	0.39072108	0.60083	0.23893361	0.49228	-9.121	0.68472	D	.	.	0.617	0.78182	P	.;.;.	.;.;.	2.286698	0.29245	18.06	0.998564168439113	0.93548	0.28843	0.23663	N	AEFDGBHCI	0.079207	0.15995	N	0.182270664644125	0.50348	3.22566	-0.00967027872240318	0.39277	2.326351	1.0	0.98316	0.615465	0.37627	0	0.588066	0.40923	0	0.658983	0.55881	0	0.550183	0.17644	0	.	.	3.2	3.2	0.35826	0.970000	0.28980	0.717000	0.20982	0.548000	0.25860	0.382000	0.26022	0.579000	0.25612	0.012000	0.09680	0.0:1.0:0.0:0.0	10.242	0.42494	846	0.36215	Chemokine interleukin-8-like domain|Chemokine interleukin-8-like domain|CX3C chemokine domain;Chemokine interleukin-8-like domain|Chemokine interleukin-8-like domain|CX3C chemokine domain;Chemokine interleukin-8-like domain|Chemokine interleukin-8-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	1986.98	34	chr16	57379748	.	C	T	1986.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.471e+00;DP=896;ExcessHet=0.0000;FS=1.861;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.74;ReadPosRankSum=0.730;SOR=0.544	GT:AD:DP:GQ:PL	0/1:102,83:185:99:2001,0,2767	20	0	1	0
chr16	66823281	66823281	T	C	exonic	NAE1	.	nonsynonymous SNV	NAE1:NM_001018160:exon5:c.A80G:p.D27G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.21	T	0.647	P	0.378	B	0.000	D	1.000	D	1.84	L	0.84	T	-0.901	T	0.154	T	0.731	3.314	17.14	4.78	1.896	7.581	14.602	0.231	0.0208761258462	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.109	0.33753	T	0.075	0.42976	T	0.407	0.34981	B	0.378	0.43788	B	0.000001	0.84330	D	0.052997	1	0.81001	D	1.795	0.47270	L	0.84	0.47477	T	-2.77	0.58733	D	0.615	0.63798	-0.9008	0.47910	T	0.154	0.48430	T	10	0.5293914	0.63096	D	0.020876	0.43558	T	0.231	0.53208	0.523	0.62668	0.687836408464	0.68516	0.7237786903322078	0.72321	0.420935812295	0.42609	0.684337496758	0.64891	T	0.20038	0.55794	T	0.0804998	0.62098	D	-0.122144	0.61627	T	0.97700434923172	0.71640	D	0.972403	0.92553	D	0.57748663	0.71471	0.34648156	0.60315	0.57748663	0.71472	0.34648156	0.60315	-8.91	0.68874	D	.	.	0.597	0.68735	P	.;.;.;.;.;.;.	.;.;.;.;.;.;.	4.683808	0.74978	26.3	0.99334894869779522	0.59934	0.96941	0.71780	D	AEFBHCI	0.906918	0.86030	D	0.230208873191102	0.52667	3.439522	0.324970129236951	0.57011	3.865569	0.999999919631432	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.727631	0.95156	0	.	.	4.78	4.78	0.60666	7.642000	0.82531	6.210000	0.55001	0.605000	0.46263	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:0.0:0.0:1.0	14.602	0.68045	67	0.97183	.;THIF-type NAD/FAD binding fold;.;.;.;THIF-type NAD/FAD binding fold;THIF-type NAD/FAD binding fold	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.175	350.22	138	chr16	66823281	.	T	C	350.22	.	AC=7;AF=0.175;AN=40;BaseQRankSum=-3.935e+00;DP=1576;ExcessHet=2.5830;FS=217.219;InbreedingCoeff=-0.2105;MLEAC=7;MLEAF=0.175;MQ=60.00;MQRankSum=0.00;QD=0.43;ReadPosRankSum=0.615;SOR=11.035	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:86,27:113:6:.:.:6,0,1637	13	0	7	1
chr16	67842923	67842923	-	CAG	exonic	THAP11	.	nonframeshift insertion	THAP11:NM_020457:exon1:c.369_370insCAG:p.Q132_S133insQ,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2143	8936.32	34	chr16	67842920	.	ACAG	A,ACAGCAG	8936.32	.	AC=8,1;AF=0.190,0.024;AN=42;BaseQRankSum=0.124;DP=1180;ExcessHet=0.9430;FS=4.197;InbreedingCoeff=0.0101;MLEAC=8,1;MLEAF=0.190,0.024;MQ=59.99;MQRankSum=0.00;QD=16.55;ReadPosRankSum=0.922;SOR=1.032	GT:AD:DP:GQ:PL	0/1:36,49,0:85:99:1886,0,1318,1995,1466,3461	13	1	6	0
chr16	69694161	69694161	G	A	exonic	NFAT5	.	nonsynonymous SNV	NFAT5:NM_001367709:exon12:c.G3661A:p.G1221S	.	.	.	.	.	.	.	.	.	.	.	570449	Immunodeficiency|not_specified	Human_Phenotype_Ontology:HP:0002721,Human_Phenotype_Ontology:HP:0005362,Human_Phenotype_Ontology:HP:0005371,MONDO:MONDO:0021094,MedGen:C0021051,OMIM:PS300755|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.06	T	0.041	B	0.041	B	0.000	N	0.999	D	1.04	L	0.1	T	-0.953	T	0.134	T	0.45	3.287	17.04	2.57	0.729	3.474	10.986	0.135	0.0132821436943	0.0002	.	0.0002	9.829e-05	0	0	0	0.0003	0.0011	6.077e-05	0.0001423	22	154602	rs145862239	0.0002	0.0002	0.0002	0.0002	0.0012	0.0002	0.0001	0.0006	0.0004	0	0.0002	0	0	0	0.0012	0.0002	0.0001	6.956e-05	0.0002	0.0002	0.0002	0.0002	0.0003	0.0001	0.0001	0.0002	0.0001	0.0001	0	0.0003	0	0	0	0	0.0002	0.0005	0	0.042	0.41637	D	0.081	0.41913	T	0.041	0.21357	B	0.041	0.23986	B	0.000355	0.45440	N	0.227247	0.99916	0.46223	D	2.22	0.62911	M	0.1	0.61559	T	-1.3	0.34596	N	0.389	0.43029	-0.9527	0.40503	T	0.134	0.44681	T	10	0.113069355	0.21230	T	0.013282	0.32560	T	0.135	0.36572	.	.	0.327401308167	0.32341	.	.	.	.	0.511009156704	0.40364	T	0.364677	0.73022	T	-0.22892	0.16792	T	-0.269044	0.47917	T	0.0534365686967481	0.06093	T	0.835416	0.50550	T	0.050404646	0.09101	0.11037396	0.26612	0.050404646	0.09101	0.11037396	0.26611	-2.333	0.04739	T	.	.	0.058	0.01715	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	2.307632	0.29537	18.15	0.98415946287901535	0.41234	0.94842	0.62518	D	AEFDBI	0.494465	0.53025	N	-0.328030571714092	0.28086	1.546331	-0.169703313724219	0.32657	1.860171	0.988601976694601	0.31570	0.706548	0.73137	0	0.702456	0.74545	0	0.679469	0.61720	0	0.714379	0.83352	0	.	.	5.6	2.57	0.29928	3.561000	0.53515	5.181000	0.47864	-0.113000	0.14837	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.2042:0.0:0.7958:0.0	10.986	0.46735	80	0.96670	.;.;.;.;.;.;.	.	.	.	.	.	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	1116.98	39	chr16	69694161	.	G	A	1116.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.13;DP=806;ExcessHet=0.0000;FS=0.753;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.74;ReadPosRankSum=-3.172e+00;SOR=0.611	GT:AD:DP:GQ:PL	0/1:60,44:104:99:1131,0,1654	20	0	1	0
chr16	69840261	69840261	A	C	exonic	WWP2	.	nonsynonymous SNV	WWP2:NM_001270453:exon2:c.A128C:p.D43A	.	.	.	.	.	.	.	.	.	0.4870	0.522	2343738	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	.	.	0.009	B	0.011	B	0.002	N	1.000	D	1.06	L	1.6	T	-1.089	T	0.057	T	0.676	3.065	16.23	5.33	2.028	6.388	13.087	0.136	0.0167343422124	.	.	2.474e-05	0	0	0	0	4.504e-05	0	0	1.94e-05	3	154602	rs757130733	5.048e-05	4.857e-05	5.234e-05	4.861e-05	6.499e-05	4.081e-05	3.747e-05	5.238e-05	4.804e-05	0	0	0	0	0	0	6.499e-05	1.776e-05	0	7.284e-05	7.264e-05	6.474e-05	8.133e-05	0.0001	4.001e-05	3.149e-05	5.863e-05	4.254e-05	4.854e-05	0	6.601e-05	0	0	0	0	0.0001	0	0	0.126	0.54683	T	0.435	0.61642	T	0.009	0.15093	B	0.011	0.15521	B	0.002080	0.37317	N	0.224693	1	0.81001	D	0.72	0.18721	N	1.6	0.28604	T	-1.13	0.38151	N	0.383	0.49055	-1.0889	0.05718	T	0.057	0.24092	T	9	0.19513091	0.35353	T	0.016734	0.38123	T	0.136	0.36778	0.239	0.17065	0.216943180021	0.21308	0.35535804648291497	0.35449	0.446682794195	0.44537	0.470044761896	0.34686	T	0.038955	0.25023	T	-0.13236	0.31114	T	-0.230259	0.51746	T	0.259204357862473	0.23280	T	0.59644	0.37371	T	0.09914626	0.23395	0.10148579	0.24298	0.09914626	0.23395	0.10148579	0.24297	-2.633	0.10775	T	.	.	0.081	0.22933	B	.;.;.	.;.;.	4.394659	0.67856	25.2	0.98088920568940319	0.38173	0.96386	0.68885	D	ALL	0.818571	0.73979	D	0.0346025537558852	0.43436	2.636469	0.218788473203955	0.50888	3.276456	0.999999999990096	0.74766	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	5.33	5.33	0.75683	6.379000	0.73086	11.243000	0.90488	0.750000	0.87069	1.000000	0.71638	1.000000	0.68203	0.346000	0.25568	1.0:0.0:0.0:0.0	13.087	0.58562	187	0.92701	.;.;.	.	.	.	.	.	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	964.98	48	chr16	69840261	.	A	C	964.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.48;DP=983;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.22;ReadPosRankSum=0.074;SOR=0.791	GT:AD:DP:GQ:PL	0/1:48,38:86:99:979,0,1226	20	0	1	0
chr16	71453266	71453266	G	C	exonic	ZNF23	.	nonsynonymous SNV	ZNF23:NM_001304492:exon4:c.C119G:p.T40R	.	.	429	1089	4	0	0	4	0.00183318	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	T	0.003	B	0.004	B	0.387	N	1.000	N	-0.28	N	1.51	T	-1.044	T	0.025	T	0.185	1.185	9.817	-4.4	-0.487	-0.080	0.141	0.076	0.00348141894052	.	.	0.0001	0	0	0	0	0.0002	0	9.124e-05	8.41e-05	13	154602	rs531705739	0.0001	0.0001	9.693e-05	0.0001	0.0073	8.678e-05	8.165e-05	0.0055	0.0049	8.983e-05	0.0001	0.0002	0	0	0.0073	6.13e-05	0.0003	4.718e-05	0.0001	0.0001	0.0001	0.0001	0.0002	6.505e-05	5.318e-05	6.804e-05	5.087e-05	0	0	0.0001	0	0	0	0.0068	0.0001	0.0009	0.0002	0.551	0.42487	T	0.629	0.10750	T	0.003	0.11197	B	0.002	0.06944	B	0.387112	0.04455	N	1.472710	1	0.08975	N	0.605	0.15622	N	1.51	0.30937	T	0.31	0.06612	N	0.092	0.07673	-1.0435	0.16265	T	0.025	0.10821	T	10	0.038754284	0.02316	T	0.003481	0.07878	T	0.076	0.22200	.	.	0.137902524267	0.13322	0.0891729014795682	0.08850	0.0974575988704	0.11007	0.32345405221	0.13944	T	0.032862	0.22669	T	-0.464123	0.00926	T	-0.649411	0.08995	T	0.0181078319781611	0.00533	T	0.039596	0.00729	T	0.044514835	0.07129	0.042170346	0.04962	0.044514835	0.07129	0.042170346	0.04962	-3.538	0.16968	T	.	.	0.108	0.20313	B	.;.;.;.;.;.	.;.;.;.;.;.	-0.195303	0.03114	0.496	0.5894235263875377	0.06108	0.07392	0.13412	N	AEFDGBI	0.087267	0.17695	N	-1.60646079626544	0.01232	0.05360148	-1.61558263859764	0.01563	0.07086023	0.974257575663825	0.29526	0.615465	0.37627	0	0.653731	0.59785	0	0.658983	0.55881	0	0.635551	0.53088	0	.	.	4.99	-4.4	0.03349	-1.251000	0.02993	-0.199000	0.10963	-0.169000	0.11342	0.000000	0.06391	0.000000	0.08366	0.099000	0.18236	0.2744:0.2546:0.2119:0.2592	0.141	0.00077	288	0.88579	.;Krueppel-associated box;Krueppel-associated box;Krueppel-associated box;.;Krueppel-associated 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	1	0	0	0	0.02381	1787.98	39	chr16	71453266	.	G	C	1787.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.025;DP=853;ExcessHet=0.0000;FS=1.329;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.96;ReadPosRankSum=-1.770e-01;SOR=0.637	GT:AD:DP:GQ:PL	0/1:65,73:138:99:1802,0,1553	20	0	1	0
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|1:6,2,0:8:31:0|1:72056628_G_C:31,0,229,49,235,284:72056628	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|1:6,2,0:8:31:0|1:72056628_G_C:31,0,229,49,235,284:72056628	2	0	4	14
chr16	72058352	72058352	G	A	exonic	HP	.	nonsynonymous SNV	HP:NM_001126102:exon3:c.G187A:p.D63N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.18	T	0.112	B	0.082	B	0.004	N	1.000	D	1.79	L	0.83	T	-1.048	T	0.105	T	0.106	1.012	9.135	1.53	0.381	1.849	5.197	0.040	0.0298587628558	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.105	0.29823	T	0.0	0.92824	D	0.112	0.26290	B	0.082	0.29098	B	0.004157	0.34057	N	0.206543	1	0.81001	D	1.95	0.52479	M	0.83	0.75789	T	-0.5	0.44471	N	0.125	0.20660	-1.0477	0.15045	T	0.105	0.38390	T	10	0.20632797	0.43117	T	0.029859	0.52286	D	0.040	0.10527	0.522	0.62518	0.715866233023	0.71337	0.2170649392134145	0.21622	0.306786513976	0.32982	0.546693384647	0.45390	T	0.25661	0.62754	T	-0.130917	0.31349	T	-0.42583	0.30409	T	0.149168682948608	0.17037	T	0.80282	0.44919	T	0.103845656	0.24546	0.038592916	0.03764	0.103845656	0.24545	0.038592916	0.03763	-3.027	0.57406	T	.	.	0.093	0.45174	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	2.419185	0.31107	18.64	0.65674445526297798	0.07839	0.54254	0.29571	D	AEFGI	0.586488	0.58451	D	-0.495153232800278	0.22239	1.18607	-0.518309580454449	0.21656	1.172553	0.00190099916649458	0.08984	0.553676	0.25195	0	0.588015	0.36545	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	2.52	1.53	0.22224	1.585000	0.36210	5.889000	0.50737	0.479000	0.22080	0.979000	0.35152	1.000000	0.68203	0.013000	0.09966	0.1782:0.0:0.8218:0.0	5.197	0.14567	173	0.93306	.;Sushi/SCR/CCP domain|Sushi/SCR/CCP domain;Sushi/SCR/CCP domain|Sushi/SCR/CCP domain;Sushi/SCR/CCP domain|Serine proteases, trypsin 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	0.08333	45.81	14	chr16	72058352	.	G	A	45.81	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.524;DP=210;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.2547;MLEAC=3;MLEAF=0.250;MQ=37.76;MQRankSum=-8.420e-01;QD=9.16;ReadPosRankSum=0.524;SOR=0.446	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:3,2:5:49:0|1:72058352_G_A:49,0,120:72058352	5	0	1	15
chr16	72058355	72058355	G	A	exonic	HP	.	nonsynonymous SNV	HP:NM_001126102:exon3:c.G190A:p.G64R	.	.	.	.	.	.	.	.	.	0.9996	0.93	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.991	D	0.002	N	1.000	D	1.79	L	0.81	T	-0.701	T	0.220	T	0.476	0.811	8.259	2.52	1.411	4.262	8.595	0.290	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.799e-06	1.045e-05	3.782e-06	0	9.109e-05	0	0	.	.	9.109e-05	0	0	0	0	0	0	0	0	0	2.587e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.001	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.991	0.79672	D	0.001888	0.37740	N	0.174046	0.814036	0.81001	D	2.98	0.85499	M	0.81	0.75553	T	-5.23	0.94096	D	0.596	0.81658	-0.7012	0.60381	T	0.220	0.58345	T	10	0.67646116	0.71020	D	0.142111	0.82450	D	0.290	0.60924	0.578	0.70347	0.821408252841	0.81972	0.7772704559283794	0.77677	0.946889859092	0.72443	0.666904628277	0.62397	T	0.837616	0.96183	D	0.077429	0.61738	D	-0.126555	0.61260	T	0.972004175186157	0.69532	D	0.859214	0.55036	D	0.62041813	0.73785	0.30561212	0.56587	0.62041813	0.73787	0.30561212	0.56586	-7.189	0.66661	T	.	.	0.668	0.86545	P	.;.;.;.;.;.;.	.;.;.;.;.;.;.	5.675451	0.92963	33	0.69442887803910702	0.08974	0.90420	0.51581	D	AEFGI	0.571565	0.57550	D	0.25544686910396	0.53908	3.557914	0.0947002964056155	0.44280	2.712969	0.0165400707588921	0.12842	0.553676	0.25195	0	0.588015	0.36545	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	2.52	2.52	0.29514	3.924000	0.56191	10.890000	0.84090	0.479000	0.22080	0.999000	0.42656	1.000000	0.68203	0.013000	0.09966	0.0:0.0:1.0:0.0	8.595	0.32869	173	0.93306	.;Sushi/SCR/CCP domain|Sushi/SCR/CCP domain;Sushi/SCR/CCP domain|Sushi/SCR/CCP domain;Sushi/SCR/CCP domain|Serine proteases, trypsin 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	0.1667	48.32	11	chr16	72058355	.	G	A	48.32	.	AC=2;AF=0.167;AN=12;BaseQRankSum=0.524;DP=176;ExcessHet=0.2996;FS=0.000;InbreedingCoeff=-0.0497;MLEAC=3;MLEAF=0.250;MQ=39.39;MQRankSum=0.00;QD=2.68;ReadPosRankSum=0.524;SOR=0.255	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:3,2:5:49:0|1:72058352_G_A:49,0,120:72058352	4	0	2	15
chr16	72058356	72058356	G	A	splicing	HP	NM_005143:exon5:c.367+1G>A;NM_001126102:exon3:c.190+1G>A	.	.	.	.	.	.	.	.	.	.	.	1.0000	0.808	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.000	D	.	.	.	.	.	.	.	.	.	1.327	10.35	2.52	1.411	2.793	8.595	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.0327426	0.47017	T	-0.284809	0.46310	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.;.;.;.;.	.;.;.;.;.;.;.	4.135331	0.61910	24.4	0.93143775065572054	0.22789	0.66793	0.33202	D	AEFGI	.	.	.	0.598030068298339	0.73050	5.903433	0.295850976269365	0.55297	3.692846	0.0165400707588921	0.12842	0.074636	0.01641	0	0.084543	0.02171	0	0.060301	0.00762	0	0.058706	0.01089	0	0.269773	0.33651	2.52	2.52	0.29514	2.491000	0.44961	9.045000	0.78625	0.479000	0.22080	1.000000	0.71638	1.000000	0.68203	0.013000	0.09966	0.0:0.0:1.0:0.0	8.595	0.32869	173	0.93306	.;.;.;.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0625	43.86	11	chr16	72058356	.	G	A	43.86	.	AC=1;AF=0.063;AN=16;BaseQRankSum=-1.645e+00;DP=193;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=0.0225;MLEAC=2;MLEAF=0.125;MQ=37.76;MQRankSum=-8.420e-01;QD=8.77;ReadPosRankSum=0.524;SOR=0.446	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:3,2:5:49:0|1:72058352_G_A:49,0,120:72058352	7	0	1	13
chr16	72788670	72788670	-	TGC	exonic	ZFHX3	.	nonframeshift insertion	ZFHX3:NM_001164766:exon9:c.6863_6864insGCA:p.Q2290_P2291insQ	.	.	0	197	5	0	24	29	0.0125313	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	2820.05	41	chr16	72788664	.	TTGCTGC	TTGCTGCTGC,T	2820.05	.	AC=1,1;AF=0.024,0.024;AN=42;BaseQRankSum=1.87;DP=984;ExcessHet=0.1072;FS=1.793;InbreedingCoeff=-0.0500;MLEAC=1,1;MLEAF=0.024,0.024;MQ=60.00;MQRankSum=0.00;QD=14.69;ReadPosRankSum=-2.800e-02;SOR=0.573	GT:AD:DP:GQ:PL	0/2:65,0,31:96:99:1091,1287,4011,0,2724,2630	19	0	1	0
chr16	75235394	75235394	T	C	exonic	BCAR1	.	nonsynonymous SNV	BCAR1:NM_001170721:exon4:c.A875G:p.Q292R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.39	T	0.098	B	0.176	B	0.261	N	1.000	N	0.895	L	1.94	T	-0.976	T	0.034	T	0.263	0.576	7.113	-0.432	0.101	0.895	6.053	0.024	0.0177463167799	.	.	.	.	.	.	.	.	.	.	.	.	.	rs919436260	1.444e-05	1.573e-05	1.094e-05	1.796e-05	0.0002	9.28e-06	7.87e-06	1.584e-05	9.3e-06	5.981e-05	0	0	0	0	0.0002	1.261e-05	0	4.643e-05	3.285e-05	3.283e-05	2.569e-05	4.034e-05	0.0001	1.261e-05	7.98e-06	4.737e-05	3.052e-05	0.0001	0	0	0	0	0	0	0	0	0	0.088	0.39097	T	0.261	0.28391	T	0.04	0.21238	B	0.113	0.31689	B	0.261375	0.15308	N	0.621864	1	0.08975	N	1.845	0.48678	L	1.94	0.22678	T	-0.86	0.23372	N	0.108	0.17966	-0.9756	0.35993	T	0.034	0.14683	T	10	0.11083123	0.20731	T	0.017746	0.39570	T	0.024	0.04979	0.37	0.38013	0.46046632392	0.45672	0.07231259708407159	0.07168	0.102785946879	0.11632	0.397231191397	0.24683	T	0.029225	0.20989	T	-0.182562	0.23355	T	-0.500014	0.22347	T	0.036411021833441	0.03053	T	0.751425	0.37327	T	0.084145814	0.19464	0.10023512	0.23959	0.084145814	0.19464	0.10023512	0.23958	-3.6	0.23878	T	.	.	0.061	0.01834	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	1.409095	0.18239	13.63	0.91295221026935247	0.20555	0.31405	0.24329	N	AEFGBCI	0.158865	0.28458	N	-0.811120224714329	0.13026	0.6388615	-0.809842031670497	0.14258	0.7440392	0.999905005550572	0.45458	0.67177	0.52595	0	0.577304	0.33150	0	0.643519	0.47002	0	0.711	0.71501	0	.	.	4.11	-0.432	0.11678	0.989000	0.29229	0.259000	0.16521	0.595000	0.32841	0.733000	0.28953	0.545000	0.25436	0.205000	0.22041	0.1391:0.0:0.3684:0.4925	6.053	0.19022	824	0.40336	.;Serine rich protein interaction domain;.;.;.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1484.98	52	chr16	75235394	.	T	C	1484.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.891e+00;DP=1784;ExcessHet=0.0000;FS=0.626;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.38;ReadPosRankSum=0.010;SOR=0.606	GT:AD:DP:GQ:PL	0/1:79,64:143:99:1499,0,2143	20	0	1	0
chr16	75478747	75478747	A	G	exonic	CHST6	.	nonsynonymous SNV	CHST6:NM_021615:exon3:c.T1082C:p.V361A,	Macular corneal dystrophy, Autosomal recessive	.	0	1518	4	0	0	4	0.00131579	.	.	336148	Macular_corneal_dystrophy|not_provided|Inborn_genetic_diseases	MONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800,Orphanet:98969|MedGen:C3661900|MeSH:D030342,MedGen:C0950123	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.16	T	0.022	B	0.091	B	0.000	D	0.998	D	1.475	L	-4.23	D	0.615	D	0.837	D	0.492	1.602	11.31	4.8	1.800	9.227	12.278	0.563	0.18566196721	7.7e-05	.	0.0001	0	8.664e-05	0	0	0.0002	0	6.058e-05	0.0001164	18	154602	rs150880663	7.802e-05	7.798e-05	6.265e-05	9.355e-05	0.0021	6.603e-05	6.145e-05	0.0012	0.0009	0	2.236e-05	0.0002	0	0	0.0021	6.745e-05	0.0002	8.115e-05	9.843e-05	9.842e-05	7.706e-05	0.0001	0.0001	5.999e-05	4.874e-05	7.908e-05	5.994e-05	0	0	0	0.0006	0	0	0.0102	0.0001	0	0	0.02	0.49613	D	0.153	0.32144	T	0.022	0.18677	B	0.091	0.29943	B	0.000183	0.48115	D	0.139699	0.998029	0.44427	D	2.3	0.65703	M	-4.23	0.97006	D	-2.68	0.57275	D	0.416	0.60325	0.615	0.92095	D	0.837	0.94543	D	10	0.4620647	0.59345	T	0.185662	0.85826	D	0.563	0.82118	.	.	0.969413134417	0.96908	0.661056393129763	0.66042	0.421419213476	0.42649	0.412125349045	0.26750	T	0.494882	0.81784	T	0.0162424	0.53872	T	0.0756977	0.75291	D	0.192094092109133	0.19967	T	0.854615	0.54143	D	0.16285852	0.36390	0.16857491	0.38827	0.16285852	0.36390	0.16857491	0.38826	-5.937	0.45749	T	0.29788985901236537	0.39504	0.206	0.43227	B	.;.;.	.;.;.	2.500999	0.32287	19.00	0.87655258637618239	0.17384	0.99233	0.93193	D	AEFDBI	0.848176	0.76501	D	-0.129899069803699	0.36094	2.081783	-0.0568657446734757	0.37195	2.174518	0.999999999680264	0.74766	0.787689	0.99735	0	0.588066	0.40923	0	0.0	0.00061	3	0.542086	0.14980	0	.	.	4.8	4.8	0.61157	9.214000	0.94249	11.174000	0.88071	0.567000	0.28720	0.996000	0.39380	1.000000	0.68203	0.017000	0.10941	1.0:0.0:0.0:0.0	12.278	0.54067	657	0.62240	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1534.98	36	chr16	75478747	.	A	G	1534.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.085e+00;DP=891;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.04;ReadPosRankSum=-1.120e-01;SOR=0.740	GT:AD:DP:GQ:PL	0/1:75,64:139:99:1549,0,2044	20	0	1	0
chr16	82627118	82627118	T	C	exonic	CDH13	.	nonsynonymous SNV	CDH13:NM_001220488:exon1:c.T61C:p.C21R	.	.	402	1118	2	0	0	2	0.000893655	.	.	2225751	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.03	D	0.994	D	0.879	P	.	.	1.000	D	0.695	N	0.53	T	-0.617	T	0.231	T	0.813	3.847	19.54	5.53	2.099	5.172	14.848	0.159	0.0556458663432	.	.	6.879e-05	0	0.0002	0	0	9.455e-05	0	0	3.88e-05	6	154602	rs773242003	2.543e-05	2.668e-05	2.596e-05	2.49e-05	0.0025	1.877e-05	1.638e-05	0.0015	0.0012	2.998e-05	2.276e-05	0	0	0	0.0025	1.713e-05	3.33e-05	0	5.251e-05	5.249e-05	5.138e-05	5.369e-05	7.213e-05	2.555e-05	1.828e-05	1.913e-05	1.03e-05	7.213e-05	0	0	0	0	0	0.0068	2.94e-05	0.0005	0	0.027	0.46910	D	0.0	0.92824	D	0.984	0.60733	D	0.601	0.50808	P	.	.	.	.	0.999873	0.50225	D	0.695	0.17993	N	0.53	0.61443	T	-2.18	0.74980	N	0.829	0.98368	-0.6165	0.64134	T	0.231	0.59732	T	9	0.7571428	0.76068	D	0.055646	0.66311	D	0.277	0.59375	.	.	0.860802837983	0.85945	.	.	.	.	.	.	.	0.238383	0.60626	T	-0.109583	0.34838	T	-0.229328	0.51836	T	0.292701353447085	0.24702	T	0.725627	0.33984	T	0.6380242	0.74725	0.6594499	0.80050	0.6380242	0.74726	0.6594499	0.80051	-6.617	0.53932	T	.	.	0.129	0.56908	B	.;.;.;.;.	.;.;.;.;.	5.287584	0.88783	29.7	0.99775020639736012	0.86260	0.80561	0.40166	D	AEFDBHCIJ	0.884705	0.81461	D	0.426748373626869	0.62898	4.513	0.488484172131351	0.67226	5.055652	0.999999999983451	0.74766	0.652421	0.48094	0	0.563428	0.19063	0	0.64067	0.45733	0	0.56214	0.19341	0	.	.	5.53	5.53	0.82530	5.506000	0.66713	7.810000	0.69404	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.0:0.0:0.0:1.0	14.848	0.69911	985	0.02828	.;.;.;.;.	.	.	.	.	.	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	776.98	35	chr16	82627118	.	T	C	776.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.883e+00;DP=794;ExcessHet=0.0000;FS=1.708;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.45;ReadPosRankSum=0.288;SOR=0.924	GT:AD:DP:GQ:PL	0/1:53,39:92:99:791,0,1367	20	0	1	0
chr16	84191362	84191367	GCCCGC	-	exonic	ADAD2	.	nonframeshift deletion	ADAD2:NM_001145400:exon1:c.132_137del:p.P49_A50del	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0005	0	0.0008	0	0	0.0002	0	0.0017	0.0003363	52	154602	rs745979380	0.0002	0.0002	0.0002	0.0002	0.0017	0.0002	0.0002	0.0012	0.0011	0	0.0007	0	5.229e-05	0	0.0017	0.0001	0.0004	0.0014	0.0003	0.0003	0.0002	0.0003	0.0017	0.0002	0.0002	0.0008	0.0006	0	0	0.0006	0	0.0002	0	0	0.0003	0	0.0017	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2857	9312.79	48	chr16	84191361	.	GGCCCGC	AGCCCGC,G	9312.79	.	AC=12,1;AF=0.286,0.024;AN=42;BaseQRankSum=0.595;DP=904;ExcessHet=0.2231;FS=3.336;InbreedingCoeff=0.2202;MLEAC=12,1;MLEAF=0.286,0.024;MQ=60.00;MQRankSum=0.00;QD=18.12;ReadPosRankSum=-4.400e-02;SOR=0.756	GT:AD:DP:GQ:PL	1/1:0,43,0:43:99:1614,129,0,1614,129,1614	11	2	7	0
chr16	84222522	84222522	C	T	exonic	KCNG4	.	nonsynonymous SNV	KCNG4:NM_172347:exon3:c.G1255A:p.V419M,	.	.	428	1062	29	3	0	35	0.0162112	.	.	703853	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0	D	1.0	D	0.999	D	0.000	D	1.000	D	3.72	H	-4.82	D	0.900	D	0.967	D	0.964	4.691	26.0	5.61	2.631	7.818	18.627	0.946	.	0.0051	0.00479233	0.0074	0.0010	0.0023	0.0002	0.0083	0.0083	0.0169	0.0144	0.0070568	1091	154602	rs140124801	0.0069	0.0069	0.0066	0.0072	0.0127	0.0068	0.0067	0.0121	0.0118	0.0010	0.0026	0.0078	0.0001	0.0078	0.0125	0.0069	0.0071	0.0127	0.0052	0.0052	0.0052	0.0053	0.0128	0.0049	0.0048	0.0103	0.0093	0.0011	0.0011	0.0020	0.0092	0.0002	0.0070	0.0170	0.0079	0.0043	0.0128	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	1	0.81001	D	4.105	0.97342	H	-4.82	0.98198	D	-2.82	0.59545	D	0.909	0.91047	0.900	0.95677	D	0.967	0.98951	D	10	0.025790572	0.00762	T	.	.	.	0.946	0.98921	.	.	0.969889004412	0.96956	0.9388897814049336	0.93869	0.30393034706	0.32714	0.793081045151	0.80911	T	0.699471	0.91333	D	0.227836	0.76518	D	0.565525	0.96017	D	0.0628093518879256	0.07604	T	0.942106	0.78341	D	0.86216265	0.88251	0.74613094	0.84994	0.86216265	0.88253	0.74613094	0.84995	-13.769	0.92282	D	.	.	0.844	0.79447	P	.	.	5.302990	0.89027	29.8	0.99916515854583565	0.98449	0.97854	0.77628	D	AEFBI	0.898918	0.84272	D	1.03012714988463	0.96598	14.89462	0.953646783385209	0.97512	16.25638	0.999999999832179	0.74766	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.61	5.61	0.85347	7.905000	0.86479	7.711000	0.66806	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.860000	0.40782	0.0:1.0:0.0:0.0	18.627	0.91299	804	0.43891	Ion transport domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1194.98	96	chr16	84222522	.	C	T	1194.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.59;DP=1303;ExcessHet=0.0000;FS=2.710;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.71;ReadPosRankSum=-4.090e-01;SOR=0.676	GT:AD:DP:GQ:PL	0/1:49,45:94:99:1209,0,1243	20	0	1	0
chr16	84295056	84295056	G	A	exonic	WFDC1	.	nonsynonymous SNV	WFDC1:NM_001282466:exon1:c.G85A:p.G29S	.	.	.	.	.	.	.	.	.	.	.	2729834	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.81	T	0.003	B	0.002	B	0.712	N	1.000	N	0.345	N	1.58	T	-0.971	T	0.028	T	0.136	1.680	11.57	-5.79	-1.250	-1.865	6.165	0.005	0.00371719487093	.	0.000199681	1.649e-05	0	0	0	0	1.501e-05	0	6.07e-05	1.94e-05	3	154602	rs200391042	3.284e-05	3.283e-05	3.403e-05	3.163e-05	0.0003	2.543e-05	2.249e-05	0.0002	0.0001	5.974e-05	0	0	0.0003	0	0.0002	2.518e-05	3.311e-05	3.478e-05	2.626e-05	2.624e-05	5.138e-05	0	0.0002	8.14e-06	5.14e-06	4.88e-06	1.83e-06	2.405e-05	0	0	0	0.0002	0	0	2.94e-05	0	0	0.809	0.03044	T	0.342	0.17910	T	0.003	0.11197	B	0.002	0.06944	B	0.712410	0.10002	N	0.849797	1	0.08975	N	0.975	0.24501	L	1.58	0.29085	T	0.42	0.03352	N	0.057	0.06059	-0.9706	0.37073	T	0.028	0.12103	T	10	0.02453065	0.00678	T	0.003717	0.08620	T	0.005	0.00259	.	.	0.0666544352282	0.05500	0.42552893097414946	0.42469	0.0197173881048	0.01935	0.267190426588	0.05778	T	0.023207	0.17756	T	-0.38492	0.02900	T	-0.693834	0.06170	T	0.0303745924199644	0.02047	T	0.330167	0.08660	T	0.037285667	0.04752	0.050108474	0.07796	0.037285667	0.04751	0.050108474	0.07796	-3.959	0.23188	T	.	.	0.070	0.03515	B	.;.;.	.;.;.	-0.980920	0.00798	0.026	0.76880882146728813	0.11647	0.02279	0.06573	N	AEFDBCIJ	0.057557	0.10732	N	-1.84225599880696	0.00450	0.01934633	-1.89716280842107	0.00496	0.02197793	0.999994372189705	0.74766	0.446893	0.09132	0	0.563428	0.19063	0	0.467745	0.07146	0	0.530356	0.10902	0	.	.	4.25	-5.79	0.02162	-1.612000	0.02163	-0.495000	0.08836	-2.759000	0.00195	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.5537:0.0:0.3172:0.1292	6.165	0.19604	968	0.07033	.;.;.	.	.	.	.	.	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	942.98	34	chr16	84295056	.	G	A	942.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.097;DP=824;ExcessHet=0.0000;FS=1.900;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.41;ReadPosRankSum=1.10;SOR=0.436	GT:AD:DP:GQ:PL	0/1:38,38:76:99:957,0,925	20	0	1	0
chr16	87604131	87604131	G	A	exonic	JPH3	.	nonsynonymous SNV	JPH3:NM_001271605:exon2:c.G425A:p.R142K,	Huntington disease-like 2, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.383e-07	6.84e-07	1.635e-06	0	1.453e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.453e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	1424.98	34	chr16	87604131	.	G	A	1424.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.280e-01;DP=820;ExcessHet=0.0000;FS=4.561;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.97;ReadPosRankSum=-2.324e+00;SOR=1.132	GT:AD:DP:GQ:PL	0/1:64,55:119:99:1439,0,1753	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	0/1:55,47,0,0,0,0:102:99:1761,0,2131,1930,2273,4203,1930,2273,4203,4203,1930,2273,4203,4203,4203,1930,2273,4203,4203,4203,4203	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	0/1:55,47,0,0,0,0:102:99:1761,0,2131,1930,2273,4203,1930,2273,4203,4203,1930,2273,4203,4203,4203,1930,2273,4203,4203,4203,4203	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	0/1:55,47,0,0,0,0:102:99:1761,0,2131,1930,2273,4203,1930,2273,4203,4203,1930,2273,4203,4203,4203,1930,2273,4203,4203,4203,4203	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	0/1:55,47,0,0,0,0:102:99:1761,0,2131,1930,2273,4203,1930,2273,4203,4203,1930,2273,4203,4203,4203,1930,2273,4203,4203,4203,4203	4	4	6	0
chr16	87891950	87891950	G	A	exonic	CA5A	.	nonsynonymous SNV	CA5A:NM_001367225:exon6:c.C623T:p.A208V	Hyperammonemia due to carbonic anhydrase VA deficiency, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	1498439	Hyperammonemic_encephalopathy_due_to_carbonic_anhydrase_VA_deficiency|Inborn_genetic_diseases	MONDO:MONDO:0014332,MedGen:C3810404,OMIM:615751,Orphanet:401948|MeSH:D030342,MedGen:C0950123	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.01	D	0.947	P	0.558	P	0.013	N	1.000	N	1.66	L	-0.08	T	-0.812	T	0.229	T	0.045	3.022	16.08	3.22	0.723	2.328	9.493	0.198	0.084259703932	0.0002	.	4.163e-05	0	0	0	0	9.623e-05	0	0	2.59e-05	4	154602	rs151220382	0.0001	0.0001	0.0001	0.0001	0.0002	9.35e-05	8.806e-05	0.0001	0.0001	0.0002	0	0.0002	0	0	0	0.0001	5.233e-05	0	4.598e-05	4.596e-05	6.421e-05	2.689e-05	8.818e-05	2.109e-05	1.526e-05	3.761e-05	2.574e-05	2.411e-05	0	0	0	0	0	0	8.818e-05	0	0	0.008	0.58626	D	0.053	0.47336	T	0.947	0.53479	P	0.558	0.49494	P	0.013249	0.28902	N	0.370470	1	0.08975	N	1.895	0.50365	L	-0.08	0.63911	T	-1.44	0.35399	N	0.23	0.25867	-0.8117	0.54448	T	0.229	0.59484	T	10	0.15621614	0.29426	T	0.08426	0.74289	D	0.198	0.48105	.	.	0.67384194882	0.67108	0.2858211115631989	0.28495	0.164236196575	0.18533	0.334977149963	0.15685	T	0.027629	0.20190	T	-0.388496	0.02751	T	-0.526524	0.19635	T	0.300610393285751	0.25029	T	0.351565	0.07865	T	0.22765264	0.45469	0.27502447	0.53435	0.22765264	0.45469	0.27502447	0.53434	-7.052	0.54413	T	0.28328783914613065	0.37893	0.123	0.25753	B	.;.;.	.;.;.	2.002112	0.25439	16.76	0.99785004357288598	0.87131	0.22806	0.21869	N	AEFDBHCI	0.154486	0.27952	N	-0.288766134539257	0.29580	1.641713	-0.463522621633125	0.23167	1.261968	0.999852680159795	0.44174	0.428477	0.06694	0	0.547309	0.14657	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	4.18	3.22	0.36041	0.653000	0.24588	1.657000	0.27878	0.613000	0.49114	0.000000	0.06391	0.004000	0.18990	0.001000	0.02609	0.1076:0.0:0.8924:0.0	9.493	0.38134	970	0.06235	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	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	308.98	38	chr16	87891950	.	G	A	308.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.53;DP=718;ExcessHet=0.0000;FS=1.404;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.66;ReadPosRankSum=-3.700e-01;SOR=0.458	GT:AD:DP:GQ:PL	0/1:20,12:32:99:323,0,492	20	0	1	0
chr16	88436039	88436039	G	C	exonic	ZNF469	.	nonsynonymous SNV	ZNF469:NM_001367624:exon3:c.G8569C:p.V2857L,	Brittle cornea syndrome 1, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.11	T	0.005	B	0.006	B	.	.	1.000	N	0.55	N	0.93	T	-1.033	T	0.051	T	0.09	-0.010	3.964	-3.42	-0.624	-0.269	1.749	0.047	0.290819134338	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.642e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.272	0.15930	T	0.198	0.27767	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	0.93	0.44065	T	-0.88	0.23808	N	0.098	0.07949	-1.0330	0.19490	T	0.051	0.21572	T	9	0.033857733	0.01574	T	0.290819	0.90557	D	0.047	0.12962	0.062	0.00241	0.0482279557977	0.04254	0.05778466525355656	0.05719	.	.	0.34829890728	0.17672	T	0.013528	0.11682	T	-0.315388	0.07282	T	-0.69081	0.06343	T	0.0342345647513866	0.02677	T	0.49795	0.15494	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.143	0.38480	B	.;.	.;.	-0.302853	0.02606	0.323	0.36900263803691985	0.02400	0.09517	0.15255	N	AEFDBI	0.090526	0.18343	N	-1.38570647527791	0.02771	0.1228472	-1.41714451955664	0.03080	0.1429999	0.813156251799272	0.24391	0.646311	0.45356	0	0.547309	0.14657	0	0.578056	0.29568	0	0.699875	0.68795	0	.	.	5.28	-3.42	0.04521	-0.197000	0.09519	-0.427000	0.09246	-0.673000	0.04287	0.000000	0.06391	0.000000	0.08366	0.162000	0.20715	0.4266:0.2183:0.232:0.1232	1.749	0.02789	.	.	.;.	.	.	.	.	.	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	0.15	851.14	104	chr16	88436039	.	G	C	851.14	.	AC=6;AF=0.150;AN=40;BaseQRankSum=-3.850e+00;DP=2947;ExcessHet=1.7912;FS=169.057;InbreedingCoeff=-0.1947;MLEAC=6;MLEAF=0.150;MQ=60.00;MQRankSum=0.00;QD=0.87;ReadPosRankSum=1.04;SOR=12.397	GT:AD:DP:GQ:PL	0/1:106,54:166:99:236,0,1642	14	0	6	1
chr16	88437824	88437824	G	A	exonic	ZNF469	.	nonsynonymous SNV	ZNF469:NM_001367624:exon3:c.G10354A:p.G3452S,	Brittle cornea syndrome 1, Autosomal recessive	.	0	1521	1	0	0	1	0.000328623	.	.	1671205	Brittle_cornea_syndrome_1|Cardiovascular_phenotype|not_provided	MONDO:MONDO:0024543,MedGen:C0268344,OMIM:229200,Orphanet:90354|MedGen:CN230736|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.33	T	0.999	D	0.648	P	.	.	1.000	N	0.345	N	3.31	T	-0.943	T	0.014	T	0.058	3.243	16.88	-0.85	-0.399	2.543	7.290	0.163	.	.	0.000199681	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs548646578	6.693e-05	6.498e-05	6.799e-05	6.583e-05	0.0005	5.57e-05	5.166e-05	0.0001	7.667e-05	0	5.65e-05	0	2.821e-05	0	0.0005	6.992e-05	0.0002	1.267e-05	0.0001	0.0001	0.0001	0.0001	0.0003	7.57e-05	6.276e-05	0.0001	8.277e-05	9.618e-05	0	0.0003	0	0	0	0	0.0001	0.0005	0	0.385	0.11015	T	0.209	0.27503	T	.	.	.	.	.	.	.	.	.	.	0.999999	0.08975	N	.	.	.	3.25	0.06762	T	-1.55	0.37566	N	0.067	0.03956	-0.9433	0.42089	T	0.014	0.05657	T	9	0.051776826	0.05111	T	.	.	.	0.163	0.42028	0.245	0.17984	0.0482279557977	0.04254	0.4172797370547663	0.41643	.	.	0.484316587448	0.36652	T	0.035809	0.23862	T	-0.538798	0.00341	T	-0.763413	0.02991	T	0.095128143119478	0.11813	T	0.764224	0.39120	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.122	0.27403	B	.;.	.;.	0.967822	0.13449	9.956	0.96959070253821844	0.31771	0.82671	0.41867	D	AEFDBCI	0.145368	0.26856	N	-0.387562014653474	0.25910	1.410159	-0.50152138149278	0.22112	1.199422	0.996910872949282	0.35113	0.495158	0.18159	0	0.61073	0.52368	0	0.535252	0.11790	0	0.638833	0.57524	0	.	.	5.14	-0.85	0.10177	2.228000	0.42625	0.421000	0.18220	0.672000	0.70159	0.994000	0.38300	0.011000	0.20116	0.001000	0.02609	0.1544:0.3959:0.4497:0.0	7.290	0.25536	.	.	.;.	.	.	.	.	.	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	4498.98	62	chr16	88437824	.	G	A	4498.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.67;DP=1335;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.85;ReadPosRankSum=-8.300e-01;SOR=0.714	GT:AD:DP:GQ:PL	0/1:170,180:350:99:4513,0,3995	20	0	1	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	0/1:78,20:98:96:96,0,1891	5	0	12	4
chr16	89900636	89900636	C	G	exonic	TCF25	.	nonsynonymous SNV	TCF25:NM_014972:exon12:c.C1223G:p.A408G,	.	.	425	1081	15	1	0	17	0.00780174	0.0001	0.014	.	.	.	.	.	.	.	.	.	.	.	.	.	0.11	T	0.024	B	0.039	B	0.209	N	0.923	D	1.07	L	.	.	-0.906	T	0.098	T	0.213	1.128	9.597	1.94	1.259	0.569	10.574	0.027	0.0038737488847	0.0037	0.00219649	0.0037	0.0006	0.0036	0.0001	0.0009	0.0047	0.0011	0.0052	0.0036287	561	154602	rs75719943	0.0046	0.0046	0.0046	0.0047	0.0050	0.0046	0.0045	0.0049	0.0048	0.0005	0.0023	0.0136	0	0.0008	0.0049	0.0050	0.0043	0.0050	0.0030	0.0030	0.0034	0.0025	0.0045	0.0028	0.0027	0.0040	0.0039	0.0008	0	0.0018	0.0153	0.0004	0.0010	0	0.0045	0.0028	0.0039	0.194	0.28520	T	0.261	0.22962	T	0.018	0.19075	B	0.026	0.23607	B	0.208935	0.16413	N	0.659388	0.922594	0.36722	D	0.975	0.24501	L	.	.	.	-1.65	0.39503	N	0.17	0.19055	-0.9063	0.47297	T	0.098	0.36574	T	9	0.008198619	0.00186	T	0.003874	0.09086	T	0.027	0.05988	.	.	0.314417295294	0.31040	0.10664353812247865	0.10594	0.154448843171	0.17448	0.322857230902	0.13853	T	0.032788	0.26786	T	-0.483383	0.00707	T	-0.464511	0.26109	T	0.00264271366004096	0.00028	T	0.794521	0.44963	T	0.12059963	0.28374	0.11749133	0.28364	0.12059963	0.28374	0.11749133	0.28363	-6.395	0.49471	T	.	.	0.084	0.09723	B	.;.	.;.	1.691293	0.21548	15.25	0.9789408958704614	0.36690	0.67411	0.33423	D	AEFGBCI	0.247582	0.36813	N	-0.520414616955509	0.21421	1.136666	-0.396363472616956	0.25105	1.378669	0.00958903472302979	0.11879	0.67177	0.52595	0	0.702456	0.74545	0	0.723109	0.80598	0	0.711	0.71501	0	.	.	5.36	1.94	0.25058	0.747000	0.25956	1.148000	0.24458	-0.279000	0.06446	0.978000	0.35038	0.658000	0.26000	0.682000	0.33600	0.1134:0.515:0.3716:0.0	10.574	0.44406	624	0.65661	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	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	1467.98	33	chr16	89900636	.	C	G	1467.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.268e+00;DP=870;ExcessHet=0.0000;FS=0.594;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.35;ReadPosRankSum=-1.003e+00;SOR=0.636	GT:AD:DP:GQ:PL	0/1:90,67:157:99:1482,0,2459	20	0	1	0
chr17	3421253	3421253	A	G	exonic	OR3A3	.	nonsynonymous SNV	OR3A3:NM_012373:exon1:c.A686G:p.H229R,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.47	T	0.097	B	0.084	B	.	.	1.000	N	0.755	N	8.78	T	-1.114	T	0.000	T	0.143	-1.126	0.120	1.43	0.384	-1.857	3.051	0.027	0.000641649174783	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.222	0.18823	T	0.349	0.17531	T	0.097	0.25541	B	0.084	0.29270	B	.	.	.	.	1	0.08975	N	-0.335	0.03518	N	8.78	0.00058	T	-4.53	0.78388	D	0.071	0.04426	-1.1136	0.02778	T	0.000	0.00114	T	9	0.12435472	0.23617	T	6.42E-4	0.00334	T	0.027	0.05988	0.518	0.61915	0.173771789658	0.16945	0.5480841144700164	0.54734	1.40192243493	0.85228	0.286088168621	0.08355	T	0.010632	0.09578	T	-0.335815	0.05684	T	-0.720151	0.04788	T	0.100554842439386	0.12418	T	0.673733	0.28234	T	0.14330181	0.32940	0.10827037	0.26077	0.14330181	0.32940	0.10827037	0.26077	-3.07	0.10954	T	.	.	0.064	0.02518	B	.;.;.	.;.;.	0.508576	0.08773	5.551	0.55873177707289723	0.05433	0.01514	0.05002	N	AEFDBI	0.042979	0.06736	N	-1.06618532800966	0.07274	0.3373977	-1.13582156285282	0.07025	0.3402188	2.37430395596839E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	2.52	1.43	0.21585	-1.238000	0.03029	-1.378000	0.05580	0.733000	0.85838	0.000000	0.06391	0.000000	0.08366	0.028000	0.12845	0.6589:0.0:0.1286:0.2125	3.051	0.05796	824	0.40336	GPCR, rhodopsin-like, 7TM;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	0.02381	2547.98	43	chr17	3421253	.	A	G	2547.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.971e+00;DP=1793;ExcessHet=0.0000;FS=2.684;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.92;ReadPosRankSum=0.704;SOR=0.926	GT:AD:DP:GQ:PL	0/1:88,95:183:99:2562,0,2456	20	0	1	0
chr17	4554215	4554215	C	G	exonic	MYBBP1A	.	nonsynonymous SNV	MYBBP1A:NM_001105538:exon3:c.G358C:p.D120H	.	.	418	1082	21	1	0	23	0.0105167	.	.	2814743	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.08	T	0.942	P	0.787	P	0.210	N	1.000	N	1.5	L	0.96	T	-1.015	T	0.102	T	0.388	3.297	17.08	0.588	0.074	0.039	8.507	0.103	.	0.0076	0.00199681	0.0078	0.0014	0.0012	0	0.0070	0.0118	0.0066	0.0049	0.0074579	1153	154602	rs142004671	0.0080	0.0080	0.0081	0.0079	0.0109	0.0078	0.0078	0.0088	0.0081	0.0013	0.0012	0.0391	0	0.0058	0.0109	0.0083	0.0085	0.0046	0.0062	0.0062	0.0061	0.0062	0.0085	0.0058	0.0057	0.0079	0.0077	0.0015	0	0.0035	0.0352	0	0.0071	0.0102	0.0085	0.0062	0.0070	0.023	0.49613	D	0.031	0.54159	D	0.928	0.52977	P	0.682	0.57594	P	0.210206	0.16384	N	0.640390	1	0.08975	N	2.24	0.63355	M	0.96	0.42888	T	-1.54	0.37375	N	0.333	0.37405	-1.0151	0.25304	T	0.102	0.37593	T	10	0.0081909	0.00186	T	.	.	.	0.103	0.29403	.	.	0.557519804684	0.55412	0.2207044583696533	0.21985	.	.	0.322130858898	0.13744	T	0.036362	0.24073	T	-0.476759	0.00773	T	-0.449646	0.27737	T	0.0315098894913136	0.02228	T	0.90121	0.65680	D	0.07455327	0.16739	0.09663519	0.22970	0.07455327	0.16739	0.09663519	0.22969	-7.802	0.59713	D	.	.	0.155	0.35098	B	.;.	.;.	2.340211	0.29987	18.30	0.99218316548581387	0.55808	0.45620	0.27579	N	AEFGBI	0.214466	0.33993	N	-0.228159475054488	0.31982	1.798906	-0.382606708469777	0.25515	1.403658	0.999905578868255	0.45458	0.542737	0.22433	0	0.52208	0.09955	0	0.685571	0.62057	0	0.638787	0.57140	0	.	.	5.25	0.588	0.16630	0.053000	0.14067	0.090000	0.14504	0.599000	0.40250	0.025000	0.20085	0.000000	0.08366	0.830000	0.39126	0.0:0.4527:0.0:0.5473	8.507	0.32356	744	0.52588	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	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	796.98	37	chr17	4554215	.	C	G	796.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.373e+00;DP=831;ExcessHet=0.0000;FS=5.121;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.07;ReadPosRankSum=-1.009e+00;SOR=0.284	GT:AD:DP:GQ:PL	0/1:40,32:72:99:811,0,1305	20	0	1	0
chr17	4734641	4734641	G	A	exonic	CXCL16	.	nonsynonymous SNV	CXCL16:NM_001100812:exon5:c.C787T:p.H263Y	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.002	B	0.002	B	0.062	N	1.000	N	0.55	N	1.49	T	-1.052	T	0.037	T	0.102	-0.745	0.831	-1.41	-0.238	-0.839	3.377	0.035	0.00249081080468	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.43	0.09543	T	0.245	0.24054	T	.	.	.	.	.	.	0.062123	0.02152	N	2.026200	1	0.08975	N	.	.	.	1.49	0.31470	T	-1.57	0.37955	N	0.118	0.10769	-1.0523	0.13763	T	0.037	0.16073	T	10	0.09896624	0.17929	T	0.002491	0.04953	T	0.035	0.08770	.	.	0.215869574891	0.21205	0.08197772876697215	0.08132	0.201043316276	0.22505	0.352259367704	0.18254	T	.	.	.	-0.325057	0.06492	T	-0.704698	0.05573	T	0.176730662584305	0.19027	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.090	0.12418	B	.;.	.;.	-0.430166	0.02102	0.198	0.39003313352059543	0.02665	0.00966	0.03700	N	AEFBI	0.055780	0.10258	N	-1.48292221915812	0.01970	0.08651874	-1.52355436854799	0.02164	0.09909962	0.999679580813729	0.41644	0.660377	0.49826	0	0.610034	0.51514	0	0.696353	0.63694	0	0.655142	0.61905	0	.	.	3.19	-1.41	0.08473	-0.828000	0.04526	-0.315000	0.10009	-0.127000	0.13314	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.3957:0.2076:0.3967:0.0	3.377	0.06819	529	0.73716	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1203.98	50	chr17	4734641	.	G	A	1203.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.790e-01;DP=1148;ExcessHet=0.0000;FS=5.939;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.86;ReadPosRankSum=-1.900e-02;SOR=0.980	GT:AD:DP:GQ:PL	0/1:32,49:81:99:1218,0,729	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	0|2:23,0,21:44:99:0|1:4933876_GGAGCCCACCTCAGAGCCCGCCCCCAGCCCGACCACCCCA_G:832,901,1709,0,808,681:4933876	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|2:0,21,23:44:99:1|0:4933876_GGAGCCCACCTCAGAGCCCGCCCCCAGCCCGACCACCCCA_G:3459,821,707,1081,0,803:4933876	0	10	6	1
chr17	5182675	5182675	G	A	exonic	ZNF594	.	nonsynonymous SNV	ZNF594:NM_032530:exon2:c.C1582T:p.R528C,	.	.	416	1095	11	0	0	11	0.00499773	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	0.005	B	0.001	B	.	.	1.000	N	2.47	M	2.38	T	-1.039	T	0.048	T	0.095	-0.901	0.437	-1.77	-2.113	-2.225	6.109	0.027	.	0.0002	0.00239617	0.0021	0.0001	0.0002	0.0015	0	0.0003	0.0022	0.0131	0.0018111	280	154602	rs181984106	0.0010	0.0010	0.0006	0.0014	0.0123	0.0009	0.0009	0.0117	0.0114	0.0001	0.0002	0.0016	0.0006	0	0.0017	0.0002	0.0009	0.0123	0.0007	0.0007	0.0004	0.0011	0.0142	0.0006	0.0006	0.0115	0.0105	0.0001	0	0.0002	0.0020	0.0020	0	0	0.0002	0.0010	0.0142	0.204	0.20078	T	0.077	0.42436	T	0.005	0.12996	B	0.001	0.04355	B	.	.	.	.	1	0.08975	N	2.125	0.59049	M	2.38	0.15843	T	-2.05	0.47008	N	0.119	0.10911	-1.0386	0.17740	T	0.048	0.20315	T	9	0.0056779385	0.00126	T	.	.	.	0.027	0.05988	.	.	0.0611884634855	0.05136	0.01185399629774001	0.01145	0.0116602894049	0.01096	0.260717839003	0.04977	T	0.025758	0.19196	T	-0.705287	0.00034	T	-0.774841	0.02612	T	0.0172182080343287	0.00465	T	0.0840916	0.00618	T	0.0541125	0.10336	0.046411708	0.06463	0.0541125	0.10336	0.046411708	0.06463	-5.578	0.42591	T	.	.	0.171	0.38871	B	.;.	.;.	-0.205010	0.03064	0.477	0.52762488124827112	0.04809	0.00000	0.00017	N	AEFDBHCI	0.026940	0.02113	N	-1.68288348883748	0.00904	0.03913164	-1.87128917732873	0.00557	0.02471769	0.0499553500786941	0.14823	0.660377	0.49826	0	0.550933	0.16991	0	0.696353	0.63694	0	0.567892	0.33627	0	.	.	0.886	-1.77	0.07551	-10.328000	0.00009	-20.000000	0.00162	-4.375000	0.00031	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.4474:0.0:0.5526:0.0	6.109	0.19309	527	0.73864	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	2197.98	90	chr17	5182675	.	G	A	2197.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.99;DP=1391;ExcessHet=0.0000;FS=2.078;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.16;ReadPosRankSum=-6.300e-02;SOR=0.892	GT:AD:DP:GQ:PL	0/1:70,75:145:99:2212,0,1761	20	0	1	0
chr17	6800775	6800775	C	G	exonic	TEKT1	.	nonsynonymous SNV	TEKT1:NM_053285:exon7:c.G1021C:p.V341L,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07	T	0.554	P	0.802	P	0.001	D	0.604	N	2.585	M	3.56	T	-1.117	T	0.046	T	0.639	4.235	22.0	2.75	0.471	1.653	10.030	0.254	0.0148905317491	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.74e-06	0.0001	2.726e-06	2.755e-06	3.602e-06	6.4e-07	4.3e-07	8.4e-07	5.7e-07	0	0	0	0	0	0	3.602e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.007	0.59928	D	0.01	0.65728	D	0.554	0.38213	P	0.802	0.58266	P	0.000902	0.41128	D	0.246339	0.603536	0.30920	N	3.065	0.87014	M	3.56	0.04696	T	-2.86	0.60188	D	0.591	0.61087	-1.1171	0.02524	T	0.046	0.19879	T	10	0.87548256	0.86836	D	0.014891	0.35296	T	0.254	0.56428	0.784	0.90768	0.246773566709	0.24272	0.5436249433425214	0.54288	0.388407156696	0.40106	0.465720266104	0.34094	T	0.063408	0.32168	T	-0.0577574	0.43257	T	-0.320741	0.42493	T	0.98490309715271	0.76061	D	0.841416	0.51702	T	0.3524521	0.57257	0.4248366	0.66311	0.3524521	0.57257	0.4248366	0.66311	-7.213	0.55575	T	.	.	0.280	0.51350	B	.	.	3.041864	0.40780	21.2	0.99569122627841022	0.72258	0.87246	0.46727	D	AEFDBHCI	0.189729	0.31698	N	0.250775222256954	0.53677	3.535585	0.210393057645656	0.50423	3.234527	0.999881703001044	0.44867	0.525926	0.21836	0	0.563428	0.19063	0	0.607795	0.38427	0	0.584449	0.35598	0	.	.	5.84	2.75	0.31439	1.756000	0.38018	-0.111000	0.11829	0.599000	0.40250	1.000000	0.71638	0.151000	0.23179	0.983000	0.59808	0.0:0.7763:0.0:0.2237	10.030	0.41269	873	0.30802	.	.	.	.	.	.	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	0.3235	3330.64	69	chr17	6800775	.	C	G,T	3330.64	.	AC=10,1;AF=0.294,0.029;AN=34;BaseQRankSum=-2.445e+00;DP=2964;ExcessHet=7.7275;FS=201.373;InbreedingCoeff=-0.4528;MLEAC=11,1;MLEAF=0.324,0.029;MQ=60.00;MQRankSum=0.00;QD=2.01;ReadPosRankSum=1.28;SOR=12.587	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:112,17,6:135:39:.:.:39,0,3502,231,3427,3874	6	0	10	4
chr17	6800775	6800775	C	T	exonic	TEKT1	.	nonsynonymous SNV	TEKT1:NM_053285:exon7:c.G1021A:p.V341I,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	0.112	B	0.341	B	0.001	N	0.837	N	1.89	L	3.53	T	-1.084	T	0.031	T	0.091	3.174	16.62	2.75	0.471	1.653	10.030	0.067	0.00715835594955	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.056	0.38185	T	0.081	0.41742	T	0.112	0.26290	B	0.341	0.42432	B	0.000902	0.41128	N	0.246339	0.836835	0.28685	N	2.085	0.57729	M	3.53	0.04852	T	-0.93	0.24898	N	0.185	0.20129	-1.0839	0.06609	T	0.031	0.13199	T	10	0.22078857	0.38785	T	0.007158	0.18979	T	0.067	0.19503	0.712	0.84781	0.148003135375	0.14442	0.3112784524375874	0.31040	0.154972287805	0.17502	0.400090247393	0.25082	T	0.025988	0.19322	T	-0.29632	0.09012	T	-0.663419	0.08038	T	0.66377192735672	0.39061	D	0.726327	0.34071	T	0.10866317	0.25691	0.13250326	0.31794	0.10866317	0.25691	0.13250326	0.31794	-5.762	0.44242	T	.	.	0.090	0.12512	B	.	.	2.315459	0.29642	18.19	0.99362639271959785	0.61071	0.80189	0.39893	D	AEFDBHCI	0.113020	0.22317	N	-0.0799309812297689	0.38272	2.239086	-0.0159644293184332	0.38992	2.305383	0.999881703001044	0.44867	0.525926	0.21836	0	0.563428	0.19063	0	0.607795	0.38427	0	0.584449	0.35598	0	.	.	5.84	2.75	0.31439	1.756000	0.38018	-0.111000	0.11829	0.599000	0.40250	1.000000	0.71638	0.151000	0.23179	0.983000	0.59808	0.0:0.7763:0.0:0.2237	10.030	0.41269	873	0.30802	.	.	.	.	.	.	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	0.3235	3330.64	69	chr17	6800775	.	C	G,T	3330.64	.	AC=10,1;AF=0.294,0.029;AN=34;BaseQRankSum=-2.445e+00;DP=2964;ExcessHet=7.7275;FS=201.373;InbreedingCoeff=-0.4528;MLEAC=11,1;MLEAF=0.324,0.029;MQ=60.00;MQRankSum=0.00;QD=2.01;ReadPosRankSum=1.28;SOR=12.587	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:112,17,6:135:39:.:.:39,0,3502,231,3427,3874	6	0	10	4
chr17	6800776	6800776	C	G	exonic	TEKT1	.	nonsynonymous SNV	TEKT1:NM_053285:exon7:c.G1020C:p.E340D,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	1.0	D	0.999	D	0.000	D	0.994	D	3.515	H	2.96	T	-0.982	T	0.107	T	0.857	4.089	21.0	2.8	0.492	1.521	8.074	0.326	0.028278372682	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.007	0.59928	D	0.013	0.63109	D	1.0	0.90584	D	0.999	0.92359	D	0.000002	0.62929	D	0.098481	0.983136	0.42247	D	3.525	0.93020	H	2.96	0.09542	T	-2.88	0.60507	D	0.808	0.80375	-0.9824	0.34445	T	0.107	0.39051	T	10	0.95349437	0.94696	D	0.028278	0.50978	D	0.326	0.64826	0.877	0.96683	0.497481867153	0.49385	0.6113345721572323	0.61065	0.419681481569	0.42513	0.529784560204	0.43004	T	0.202368	0.56052	T	0.124774	0.66848	D	-0.0585471	0.66434	T	0.995554625988007	0.87638	D	0.840516	0.51562	T	0.7195699	0.79137	0.5731973	0.75279	0.7195699	0.79139	0.5731973	0.75280	-8.963	0.67458	D	.	.	0.829	0.78671	P	.	.	3.572194	0.50313	22.9	0.9983085278040047	0.91284	0.84486	0.43568	D	AEFDBHCI	0.220516	0.34526	N	0.55574673951639	0.70432	5.500766	0.423949101341838	0.63059	4.532556	0.999819604160299	0.43459	0.525926	0.21836	0	0.563428	0.19063	0	0.607795	0.38427	0	0.584449	0.35598	0	.	.	5.84	2.8	0.31881	1.605000	0.36426	0.787000	0.21533	0.599000	0.40250	1.000000	0.71638	0.338000	0.24408	0.976000	0.56436	0.0:0.6876:0.0:0.3124	8.074	0.29869	873	0.30802	.	.	.	.	.	.	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	0.1944	1543.06	69	chr17	6800776	.	C	G,T	1543.06	.	AC=4,3;AF=0.111,0.083;AN=36;BaseQRankSum=-3.449e+00;DP=2429;ExcessHet=2.5830;FS=177.172;InbreedingCoeff=-0.2591;MLEAC=4,3;MLEAF=0.111,0.083;MQ=60.00;MQRankSum=0.00;QD=1.70;ReadPosRankSum=0.492;SOR=11.197	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:112,17,6:135:39:.:.:39,0,3502,231,3427,3874	11	0	4	3
chr17	7436002	7436002	T	A	exonic	TMEM102	.	nonsynonymous SNV	TMEM102:NM_001320444:exon1:c.T131A:p.L44Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.999	D	0.97	D	0.001	D	0.985	D	2.075	M	0.5	T	-0.498	T	0.276	T	0.895	4.347	22.9	4.34	2.052	5.162	8.78	0.234	0.0864938645333	.	.	.	.	.	.	.	.	.	.	.	.	.	rs199750320	2.053e-06	2.052e-06	2.724e-06	1.376e-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	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	0.0	0.91255	D	0.0	0.92824	D	0.999	0.77913	D	0.97	0.72226	D	0.000703	0.42254	D	0.000000	0.984647	0.40173	D	2.125	0.59049	M	0.5	0.55608	T	-1.68	0.40082	N	0.875	0.87265	-0.4984	0.68707	T	0.276	0.64814	T	10	0.72864616	0.74145	D	0.086494	0.74747	D	0.234	0.53644	0.399	0.42753	0.622080263406	0.61901	0.6506296406148349	0.64998	.	.	0.707875490189	0.68286	T	0.015517	0.12998	T	0.275668	0.80941	D	0.158201	0.80695	D	0.976260960102081	0.71301	D	.	.	.	0.70484483	0.78322	0.7793976	0.86992	0.70484483	0.78324	0.7793976	0.86993	-3.883	0.22047	T	.	.	0.716	0.73975	P	.;.	.;.	4.916325	0.80938	27.4	0.99653471096670754	0.77442	0.92373	0.55561	D	AEFDGBHCI	0.503594	0.53551	D	0.668813434881463	0.77592	6.704231	0.637150385691015	0.77655	6.721741	0.999999999999973	0.74766	0.441713	0.08003	0	0.484254	0.07192	0	0.52208	0.10781	0	0.372554	0.06265	0	.	.	5.42	4.34	0.51267	4.287000	0.58794	7.919000	0.74425	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0884:0.0:0.9116	8.78	0.33944	301	0.87912	.;.	.	.	.	.	.	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	1793.98	35	chr17	7436002	.	T	A	1793.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.155;DP=818;ExcessHet=0.0000;FS=2.590;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=17.59;ReadPosRankSum=3.62;SOR=0.481	GT:AD:DP:GQ:PL	0/1:43,59:102:99:1808,0,1288	20	0	1	0
chr17	7513182	7513202	TCACCCAGCTATTCGCCAACG	-	exonic	POLR2A	.	nonframeshift deletion	POLR2A:NM_000937:exon29:c.4918_4938del:p.S1740_P1746del,	.	.	426	1093	3	0	0	3	0.00137049	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	.	0	0	0	0	0	0	0	0	3.84e-05	1	26028	rs766964491	2.962e-05	2.873e-05	2.447e-05	3.486e-05	0.0001	2.168e-05	1.924e-05	3.6e-05	2.183e-05	0	0.0001	0	0	0	0	2.516e-05	9.087e-05	4.806e-05	8.073e-05	0.0001	6.566e-05	9.656e-05	0.0002	4.597e-05	3.591e-05	1.988e-05	1.135e-05	5.004e-05	0.0011	6.71e-05	0	0	0	0.0075	5.951e-05	0.0005	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	2782.07	33	chr17	7513181	.	ATCACCCAGCTATTCGCCAACG	A	2782.07	.	AC=2;AF=0.048;AN=42;BaseQRankSum=4.41;DP=1481;ExcessHet=0.1072;FS=3.030;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=59.99;MQRankSum=0.00;QD=5.63;ReadPosRankSum=0.932;SOR=0.930	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:176,53:229:99:0|1:7513181_ATCACCCAGCTATTCGCCAACG_A:1439,0,7000:7513181	19	0	2	0
chr17	7513349	7513349	-	TCTCCCAGCTACTCGCCGACA	exonic	POLR2A	.	nonframeshift insertion	POLR2A:NM_000937:exon29:c.5085_5086insTCTCCCAGCTACTCGCCGACA:p.P1746_N1747insSYSPTSP,	.	.	478	1040	1	0	3	4	0.000480538	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.011e-05	0.0001	3.89e-05	4.134e-05	0.0007	3.091e-05	2.77e-05	0.0002	9.991e-05	4.17e-05	3.375e-05	0	0	0	0.0007	3.534e-05	0.0001	5.138e-05	6.784e-05	0.0001	1.869e-05	0.0001	0.0002	3.114e-05	2.208e-05	3.305e-05	1.359e-05	3.891e-05	0	0.0002	0	0	0	0.0179	4.057e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	15018.07	198	chr17	7513349	.	G	GTCTCCCAGCTACTCGCCGACA	15018.07	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.294;DP=3659;ExcessHet=0.1072;FS=0.000;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=59.96;MQRankSum=0.00;QD=31.82;ReadPosRankSum=5.04;SOR=0.629	GT:AD:DP:GQ:PL	0/1:171,20:191:99:6568,0,6582	19	0	2	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	1/1:0,58,0,0,0,0:58:99:2566,173,0,2568,175,2570,2568,175,2570,2570,2568,175,2570,2570,2570,2568,175,2570,2570,2570,2570	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	1/1:0,58,0,0,0,0:58:99:2566,173,0,2568,175,2570,2568,175,2570,2570,2568,175,2570,2570,2570,2568,175,2570,2570,2570,2570	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	1/1:0,58,0,0,0,0:58:99:2566,173,0,2568,175,2570,2568,175,2570,2570,2568,175,2570,2570,2570,2568,175,2570,2570,2570,2570	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	1/1:0,58,0,0,0,0:58:99:2566,173,0,2568,175,2570,2568,175,2570,2570,2568,175,2570,2570,2570,2568,175,2570,2570,2570,2570	0	14	0	0
chr17	8758366	8758366	G	A	exonic	SPDYE4	.	nonsynonymous SNV	SPDYE4:NM_001128076:exon1:c.C17T:p.A6V,	.	.	425	1080	16	1	0	18	0.00826446	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.43	T	0.0	B	0.0	B	0.018	N	1.000	N	0	N	.	.	-1.061	T	0.033	T	0.027	0.317	5.719	0.228	-0.050	0.301	4.59	0.014	.	0.0070	0.00319489	0.0052	0.0070	0.0101	0	0.0055	0.0070	0	0.0032	0.0020634	319	154602	rs34694079	0.0081	0.0078	0.0082	0.0080	0.0097	0.0080	0.0080	0.0092	0.0092	0.0035	0.0029	0.0027	5.598e-05	0.0057	0.0097	0.0094	0.0075	0.0027	0.0062	0.0062	0.0064	0.0059	0.0094	0.0058	0.0057	0.0088	0.0086	0.0040	0.0110	0.0031	0.0026	0	0.0039	0.0102	0.0094	0.0071	0.0010	0.172	0.22660	T	0.694	0.05844	T	0.0	0.02946	B	0.0	0.01387	B	0.018084	0.01480	N	3.257980	1	0.08975	N	0	0.06538	N	.	.	.	-0.54	0.16598	N	0.075	0.04913	-1.0613	0.11434	T	0.033	0.14117	T	9	0.0039616227	0.00076	T	.	.	.	0.014	0.01968	.	.	0.0297737177859	0.01360	0.06361789642876589	0.06300	0.200286886509	0.22433	0.387546867132	0.23323	T	0.001776	0.01195	T	-0.697053	0.00038	T	-0.763657	0.02983	T	0.000697649832233645	0.00006	T	0.458554	0.13215	T	0.02554231	0.01503	0.04355462	0.05446	0.02554231	0.01503	0.04355462	0.05445	-4.193	0.26650	T	.	.	0.084	0.09772	B	.	.	-0.119769	0.03524	0.670	0.67067587201391132	0.08244	0.00538	0.02482	N	AEFDBI	0.028939	0.02640	N	-1.39315711839182	0.02701	0.1196695	-1.42553532080348	0.02999	0.1390573	8.21368020201314E-5	0.04703	0.549168	0.22868	0	0.627178	0.54094	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	2.38	0.228	0.14635	0.331000	0.19477	-2.552000	0.03617	-0.202000	0.08738	0.001000	0.13787	0.000000	0.08366	0.001000	0.02609	0.3527:0.0:0.6473:0.0	4.59	0.11696	840	0.37365	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	991.98	38	chr17	8758366	.	G	A	991.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-8.840e-01;DP=821;ExcessHet=0.0000;FS=0.949;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.59;ReadPosRankSum=0.366;SOR=0.502	GT:AD:DP:GQ:PL	0/1:29,39:68:99:1006,0,707	20	0	1	0
chr17	10632535	10632535	C	T	exonic	MYH3	.	nonsynonymous SNV	MYH3:NM_002470:exon34:c.G4897A:p.A1633T,	Arthrogryposis, distal, type 2A, Autosomal dominant;Arthrogryposis, distal, type 2B, Autosomal dominant;Arthrogryposis, distal, type 8, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	0.196	B	0.532	P	.	.	1.000	D	3	M	-1.28	T	0.324	D	0.700	D	0.725	5.591	35	5.77	2.885	6.000	20.363	0.609	0.0562098951223	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs374056469	6.841e-06	6.84e-06	5.445e-06	8.251e-06	2.987e-05	3.46e-06	2.52e-06	3.09e-06	2.24e-06	2.987e-05	0	0	0	0	0	7.194e-06	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.047	0.48855	D	0.196	0.29532	B	0.532	0.48601	P	.	.	.	.	0.99999	0.58761	D	2.735	0.79925	M	-1.28	0.79376	T	.	.	.	0.402	0.44283	0.324	0.87932	D	0.700	0.89668	D	9	0.48099178	0.60429	T	0.05621	0.66522	D	.	.	0.721	0.85585	0.815868238144	0.81413	0.5059464015364288	0.50516	0.485768874065	0.47451	0.706112623215	0.68030	T	0.631076	0.88567	D	0.19949	0.73844	D	0.0487776	0.73503	D	0.958891928195953	0.65391	D	0.855414	0.54290	D	0.49252048	0.66652	0.5799822	0.75656	0.49252048	0.66653	0.5799822	0.75657	-9.644	0.71753	D	0.3936906831234587	0.48651	0.098	0.16319	B	.	.	4.699748	0.75395	26.3	0.99931019852431668	0.99387	0.98924	0.88695	D	AEFDBI	0.747395	0.68946	D	0.554530731520085	0.70359	5.489874	0.623687300928881	0.76664	6.532857	0.999999999999801	0.74766	0.615465	0.37627	0	0.588066	0.40923	0	0.658983	0.55881	0	0.567892	0.33627	0	.	.	5.77	5.77	0.91077	6.083000	0.70975	4.007000	0.41127	0.599000	0.40250	1.000000	0.71638	0.999000	0.35428	0.998000	0.85391	0.0:1.0:0.0:0.0	20.363	0.98865	664	0.61548	Myosin tail	.	.	.	.	.	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	1867.98	81	chr17	10632535	.	C	T	1867.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.73;DP=1683;ExcessHet=0.0000;FS=0.586;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.53;ReadPosRankSum=-2.586e+00;SOR=0.761	GT:AD:DP:GQ:PL	0/1:91,71:162:99:1882,0,2235	20	0	1	0
chr17	11690117	11690117	G	A	exonic	DNAH9	.	nonsynonymous SNV	DNAH9:NM_001372:exon20:c.G4295A:p.G1432D,	.	.	417	1099	5	1	0	7	0.0031746	.	.	1610349	not_provided|DNAH9-related_disorder|Inborn_genetic_diseases	MedGen:C3661900|.|MeSH:D030342,MedGen:C0950123	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.48	T	0.023	B	0.169	B	0.041	N	1.000	D	1.825	L	0.19	T	-0.980	T	0.165	T	0.194	2.362	13.86	-0.284	0.365	2.290	9.524	0.115	0.00910412407893	0.0002	0.000998403	0.0006	0	0	0	0	0.0001	0	0.0038	0.0005045	78	154602	rs200329184	0.0003	0.0003	0.0002	0.0004	0.0029	0.0002	0.0002	0.0026	0.0025	2.987e-05	2.236e-05	0	0	3.744e-05	0.0012	0.0001	0.0002	0.0029	0.0002	0.0002	0.0001	0.0002	0.0029	0.0001	0.0001	0.0018	0.0014	0	0	0	0	0	0	0	0.0002	0	0.0029	0.08	0.33585	T	.	.	.	0.023	0.18885	B	0.169	0.35248	B	0.040798	0.24019	N	0.441952	0.990746	0.24130	N	1.56	0.39490	L	0.19	0.60236	T	-3.56	0.69950	D	0.332	0.37301	-0.9799	0.35025	T	0.165	0.50193	T	10	0.013894051	0.00293	T	0.009104	0.23941	T	0.115	0.32236	.	.	0.578164481777	0.57486	0.3210947763078606	0.32022	0.123906577991	0.13947	0.363995015621	0.19966	T	0.235957	0.60334	T	-0.478231	0.00758	T	-0.462144	0.26366	T	0.0771805126986451	0.09623	T	0.906909	0.67118	D	0.2114059	0.43464	0.24774717	0.50311	0.2114059	0.43464	0.24774717	0.50310	-9.799	0.72699	D	.	.	0.186	0.40131	B	.;.	.;.	2.304205	0.29484	18.14	0.9749250263275191	0.34251	0.93936	0.59622	D	AEFBI	0.386486	0.46683	N	-0.391941389838108	0.25754	1.400486	-0.341494779843728	0.26773	1.481009	3.44713132699852E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.84	-0.284	0.12233	2.353000	0.43744	0.233000	0.16214	0.676000	0.76740	0.997000	0.40164	0.002000	0.18203	0.994000	0.71098	0.1339:0.3239:0.5422:0.0	9.524	0.38320	883	0.28872	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	0	0	0	0	0	0	0	1	0	0	0	0.02381	2034.98	34	chr17	11690117	.	G	A	2034.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.15;DP=857;ExcessHet=0.0000;FS=2.928;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.94;ReadPosRankSum=-3.510e-01;SOR=0.949	GT:AD:DP:GQ:PL	0/1:77,69:146:99:2049,0,2223	20	0	1	0
chr17	15553707	15553707	G	A	exonic	TVP23C;TVP23C-CDRT4	.	nonsynonymous SNV	TVP23C:NM_001135036:exon3:c.C218T:p.S73L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07	T	1.0	D	0.999	D	0.000	D	1.000	D	2.68	M	0.81	T	-0.333	T	0.323	T	0.875	4.712	26.2	4.27	2.095	9.720	15.812	0.533	0.10793370349	0.0003	.	0.0002	0	0	0.0001	0	0.0004	0	0	0.000194	30	154602	rs199907331	0.0002	0.0002	0.0002	0.0001	0.0002	0.0002	0.0001	0.0002	0.0002	5.987e-05	9.05e-05	0	0.0002	0	0	0.0002	0.0002	0	0.0001	0.0001	0.0001	0.0001	0.0003	9.186e-05	7.736e-05	0.0002	0.0002	0	0	6.574e-05	0	0	0	0	0.0003	0	0	0.001	0.78490	D	0.002	0.83351	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.775	0.80997	M	0.81	0.48460	T	-5.31	0.84457	D	0.922	0.92784	-0.3326	0.74058	T	0.323	0.69212	T	10	0.7645697	0.76603	D	0.107934	0.78424	D	0.533	0.80367	.	.	0.732589864995	0.73020	0.6137054898476767	0.64283	0.45497841777	0.54028	0.848769307137	0.89428	D	0.279	0.65156	T	0.0497754	0.58315	T	0.144241	0.79819	D	0.766560733318329	0.44234	D	0.993101	0.98279	D	0.91470146	0.92737	0.90033585	0.95000	0.91470146	0.92738	0.90033585	0.95000	-13.164	0.90027	D	.	.	0.369	0.59313	A	.;.;.;.;.;.;.	.;.;.;.;.;.;.	5.545797	0.92007	32	0.99930853286762888	0.99334	0.98541	0.83887	D	AEFDI	0.918216	0.88694	D	0.827369944914062	0.87786	9.33974	0.753809089349901	0.86442	8.890344	0.999899527541661	0.45129	0.706548	0.73137	0	0.659464	0.62310	0	0.643519	0.47002	0	0.714379	0.83352	0	.	.	4.27	4.27	0.50009	9.908000	0.98660	11.775000	0.95959	0.649000	0.52879	1.000000	0.71638	1.000000	0.68203	0.959000	0.51448	0.0:0.0:1.0:0.0	15.812	0.78351	768	0.49510	.;.;.;.;.;.;.	.	.	.	.	.	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	1416.98	33	chr17	15553707	.	G	A	1416.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.33;DP=832;ExcessHet=0.0000;FS=0.725;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.85;MQRankSum=0.809;QD=10.34;ReadPosRankSum=-1.480e-01;SOR=0.786	GT:AD:DP:GQ:PL	0/1:84,53:137:99:1431,0,2078	20	0	1	0
chr17	18285268	18285268	A	C	exonic	TOP3A	.	nonsynonymous SNV	TOP3A:NM_001320759:exon14:c.T1466G:p.L489R	.	.	427	1092	3	0	0	3	0.00137174	.	.	715280	not_provided|TOP3A-related_disorder	MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0	D	0.803	P	0.729	P	0.000	D	1.000	D	3.285	M	1.74	T	-0.652	T	0.144	T	0.956	2.779	15.25	5.4	2.038	9.233	15.417	0.753	0.0676467461516	0.0048	0.000798722	0.0028	0.0012	0.0010	0.0001	0.0008	0.0042	0.0022	0.0018	0.0031759	491	154602	rs34001746	0.0056	0.0056	0.0056	0.0056	0.0067	0.0055	0.0054	0.0065	0.0065	0.0008	0.0022	0.0002	0	0.0005	0.0035	0.0067	0.0070	0.0020	0.0032	0.0032	0.0033	0.0031	0.0059	0.0030	0.0029	0.0054	0.0052	0.0011	0	0.0014	0	0	0.0007	0	0.0059	0.0033	0.0019	0.0	0.91255	D	0.023	0.57104	D	0.803	0.45133	P	0.62	0.51382	P	0.000000	0.84330	D	0.000000	1	0.81001	D	3.455	0.92281	M	1.74	0.26301	T	-5.82	0.88289	D	0.966	0.97750	-0.6524	0.62609	T	0.144	0.46623	T	10	0.030588925	0.01186	T	0.067647	0.70225	D	0.753	0.91541	.	.	0.340510301474	0.33666	0.9832176121174968	0.98313	0.793143290014	0.65900	0.773919999599	0.78011	T	0.258325	0.62947	T	-0.0253932	0.48083	T	0.196721	0.82949	D	0.0855084716702376	0.10677	T	.	.	.	0.9554681	0.96820	0.94121397	0.97847	0.9606977	0.97351	0.9494898	0.98369	-11.664	0.85016	D	.	.	0.837	0.79463	P	.;.;.	.;.;.	4.940188	0.81522	27.6	0.98489284403286292	0.42073	0.99343	0.94772	D	AEFGBI	0.914876	0.87885	D	0.784817847738091	0.85147	8.490188	0.764052166924325	0.87204	9.141873	0.999995400528612	0.74766	0.719381	0.83141	0	0.724815	0.89359	0	0.723133	0.82415	0	0.714379	0.83352	0	.	.	5.4	5.4	0.77957	9.220000	0.94329	11.212000	0.89433	0.681000	0.82415	1.000000	0.71638	1.000000	0.68203	0.989000	0.64315	1.0:0.0:0.0:0.0	15.417	0.74698	364	0.84707	DNA topoisomerase, type IA, central|DNA topoisomerase, type IA, central;DNA topoisomerase, type IA, central|DNA topoisomerase, type IA, central;.	.	.	.	.	.	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	3084.98	33	chr17	18285268	.	A	C	3084.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.114e+00;DP=960;ExcessHet=0.0000;FS=0.489;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.77;ReadPosRankSum=-8.820e-01;SOR=0.752	GT:AD:DP:GQ:PL	0/1:107,117:224:99:3099,0,3012	20	0	1	0
chr17	18976897	18976897	C	A	exonic	SLC5A10	.	nonsynonymous SNV	SLC5A10:NM_001270648:exon8:c.C809A:p.A270D	.	.	428	1093	1	0	0	1	0.000457247	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.996	D	0.000	D	1.000	D	4.06	H	-2.71	D	1.089	D	0.946	D	0.88	4.738	26.4	5.97	2.837	3.162	16.656	0.806	0.356693475671	.	.	1.658e-05	0	0	0	0	1.512e-05	0	6.057e-05	1.94e-05	3	154602	rs754854911	9.58e-06	9.577e-06	8.17e-06	1.1e-05	6.956e-05	5.56e-06	4.35e-06	2.995e-05	2.038e-05	0	0	0	0	0	0	5.396e-06	3.312e-05	6.956e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.001	0.83351	D	1.0	0.90584	D	0.995	0.84481	D	0.000001	0.84330	D	0.055382	1	0.81001	D	3.76	0.95097	H	-3.43	0.94388	D	-4.94	0.83092	D	0.791	0.81559	1.089	0.99180	D	0.946	0.98236	D	10	0.9413934	0.93465	D	0.356693	0.92408	D	0.806	0.93699	0.766	0.89373	0.719357592166	0.71688	0.9755322869752482	0.97543	0.951033788563	0.72625	0.60333275795	0.53374	T	0.431809	0.77979	T	0.381333	0.88795	D	0.49151	0.94449	D	0.987987637519836	0.78383	D	0.913009	0.68959	D	0.8769091	0.89415	0.9368212	0.97557	0.8769091	0.89417	0.9368212	0.97557	-14.008	0.97126	D	.	.	0.993	0.94980	P	.;.;.;.;.	.;.;.;.;.	4.985106	0.82600	27.8	0.9979444170274494	0.88017	0.98459	0.82997	D	AEFDGBI	0.597765	0.59142	D	0.964238732873482	0.94534	12.83301	0.881063960292559	0.94693	12.96482	0.999954486435682	0.48110	0.405899	0.06291	1	0.379588	0.06130	0	0.486962	0.07600	0	0.714379	0.83352	0	.	.	5.97	5.97	0.96935	3.964000	0.56488	5.973000	0.52033	0.597000	0.34315	1.000000	0.71638	1.000000	0.68203	0.583000	0.30967	0.1303:0.8697:0.0:0.0	16.656	0.85086	819	0.41190	.;.;.;.;.	.	.	.	.	.	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	1251.98	47	chr17	18976897	.	C	A	1251.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.521;DP=816;ExcessHet=0.0000;FS=1.625;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.65;ReadPosRankSum=0.109;SOR=0.912	GT:AD:DP:GQ:PL	0/1:50,49:99:99:1266,0,1233	20	0	1	0
chr17	19931844	19931844	A	C	exonic	AKAP10	.	nonsynonymous SNV	AKAP10:NM_007202:exon10:c.T1602G:p.D534E,	.	.	421	1099	2	0	0	2	0.000909091	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.72	T	0.0	B	0.001	B	0.001	N	1.000	N	0.69	N	1.58	T	-1.019	T	0.029	T	0.05	-0.411	2.078	-11.2	-4.543	-2.216	10.590	0.029	0.00291149962007	.	0.000199681	4.12e-05	0	8.642e-05	0	0	5.996e-05	0	0	3.88e-05	6	154602	rs562498114	4.036e-05	4.378e-05	3.131e-05	4.95e-05	0.0002	3.179e-05	2.91e-05	3.977e-05	3.574e-05	0	0	0	0	0	0.0002	5.036e-05	3.312e-05	0	3.94e-05	3.937e-05	5.14e-05	2.686e-05	7.35e-05	1.715e-05	1.129e-05	2.846e-05	1.858e-05	0	0	6.539e-05	0	0	0	0	7.35e-05	0	0	0.693	0.04264	T	0.31	0.19721	T	0.0	0.02946	B	0.001	0.04355	B	0.000959	0.40932	N	0.270498	1	0.08975	N	1.06	0.26948	L	1.58	0.29085	T	0.09	0.05917	N	0.105	0.08925	-1.0189	0.24074	T	0.029	0.12409	T	10	0.02281779	0.00580	T	0.002911	0.06162	T	0.029	0.06676	0.229	0.15556	0.327401308167	0.32341	0.22685865104509895	0.22600	0.201259681279	0.22528	0.322355121374	0.13777	T	0.037334	0.24438	T	-0.528108	0.00394	T	-0.804685	0.01788	T	0.0255297240249596	0.01343	T	0.585041	0.21304	T	0.024227802	0.01234	0.027532224	0.00913	0.024227802	0.01234	0.027532224	0.00913	-2.614	0.06610	T	.	.	0.060	0.00890	B	.	.	-0.895419	0.00933	0.035	0.52858256862109931	0.04828	0.05257	0.11094	N	AEFBI	0.079913	0.16150	N	-1.93718685049766	0.00288	0.01234206	-2.07049239063164	0.00216	0.009517763	0.999987909804892	0.51787	0.706548	0.73137	0	0.653731	0.59785	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.6	-11.2	0.00099	-1.470000	0.02452	-2.976000	0.03175	-0.092000	0.16129	0.000000	0.06391	0.000000	0.08366	0.200000	0.21896	0.0981:0.3041:0.5247:0.0731	10.590	0.44496	588	0.69043	.	.	.	.	.	.	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	1990.98	33	chr17	19931844	.	A	C	1990.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.320e-01;DP=877;ExcessHet=0.0000;FS=2.551;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.88;ReadPosRankSum=0.824;SOR=0.527	GT:AD:DP:GQ:PL	0/1:97,86:183:99:2005,0,2437	20	0	1	0
chr17	27764058	27764058	T	-	exonic	NOS2	.	frameshift deletion	NOS2:NM_000625:exon21:c.2515delA:p.T839Pfs*45,	.	.	413	1108	1	0	0	1	0.00045106	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.988e-05	0.0007	9.111e-05	0	0	1.598e-05	0	0	0.0001537	4	26028	rs780039206	4.997e-05	0.0002	5.177e-05	4.816e-05	0.0012	4.062e-05	3.737e-05	0.0009	0.0008	0.0012	0.0002	0	7.573e-05	0	0.0005	9.896e-06	0.0001	0	0.0003	0.0009	0.0003	0.0004	0.0012	0.0003	0.0002	0.0010	0.0009	0.0012	0	0.0001	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	655.94	33	chr17	27764057	.	GT	G	655.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.348e+00;DP=733;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=50.38;MQRankSum=-5.625e+00;QD=13.96;ReadPosRankSum=1.37;SOR=0.622	GT:AD:DP:GQ:PL	0/1:25,22:47:99:670,0,779	20	0	1	0
chr17	34962068	34962068	G	T	exonic	ZNF830	.	stopgain	ZNF830:NM_052857:exon1:c.G502T:p.E168X,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.42	T	.	.	.	.	0.005	N	1.000	D	.	.	.	.	.	.	.	.	.	3.652	18.57	5.65	2.941	2.937	15.093	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.005375	0.32858	N	0.259595	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.165	0.17416	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.371961	0.88188	D	0.29652	0.88039	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive	High	6.897145	0.95883	35	0.99579380219322688	0.72921	0.62130	0.31689	D	AEFDBHCI	0.034333	0.04233	N	0.742428890382476	0.82411	7.755829	0.524351031999228	0.69633	5.388293	0.999999999856352	0.74766	0.542737	0.22433	0	0.52208	0.09955	0	0.685571	0.62057	0	0.627883	0.49187	0	.	.	5.65	5.65	0.86881	3.790000	0.55166	4.090000	0.41799	-0.153000	0.12021	0.973000	0.34540	1.000000	0.68203	0.045000	0.14751	0.0:0.0:1.0:0.0	15.093	0.71881	666	0.61362	.	.	.	.	.	.	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	1383.98	39	chr17	34962068	.	G	T	1383.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.767e+00;DP=930;ExcessHet=0.0000;FS=1.507;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.36;ReadPosRankSum=-1.810e-01;SOR=0.863	GT:AD:DP:GQ:PL	0/1:61,51:112:99:1398,0,1743	20	0	1	0
chr17	36943072	36943072	G	T	exonic	LHX1	.	nonsynonymous SNV	LHX1:NM_005568:exon5:c.G1162T:p.A388S,	.	.	424	1046	51	1	0	53	0.0247086	.	.	3220315	LHX1-related_disorder	.	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	1	T	0.001	B	0.002	B	0.005	N	0.987	D	-0.05	N	-2.53	D	-0.705	T	0.271	T	0.256	-0.276	2.677	2.64	0.535	4.733	10.425	0.231	.	0.0050	0.00419329	0.0083	0.0012	0.0034	0	0.0009	0.0088	0.0102	0.0205	0.0072638	1123	154602	rs145694637	0.0077	0.0077	0.0072	0.0082	0.0196	0.0076	0.0075	0.0185	0.0182	0.0013	0.0037	0.0172	5.052e-05	0.0017	0.0196	0.0074	0.0085	0.0193	0.0059	0.0059	0.0060	0.0057	0.0151	0.0055	0.0054	0.0123	0.0113	0.0015	0.0253	0.0058	0.0207	0	0.0017	0.0136	0.0079	0.0076	0.0151	.	.	.	0.409	0.14588	T	0.001	0.07471	B	0.002	0.06944	B	0.005395	0.32840	N	0.126788	0.987268	0.40562	D	-0.345	0.03330	N	.	.	.	.	.	.	0.282	0.31925	-0.7051	0.60193	T	0.271	0.64245	T	10	0.0046339035	0.00097	T	.	.	.	.	.	.	.	0.326616659874	0.32268	0.29329692418712267	0.29242	.	.	0.500427007675	0.38888	T	0.16499	0.51066	T	-0.456119	0.01039	T	-0.413023	0.31877	T	0.00293281693561552	0.00031	T	.	.	.	0.037977275	0.04970	0.12609625	0.30374	0.037977275	0.04970	0.12609625	0.30373	-2.713	0.07413	T	.	.	0.067	0.02399	B	.	.	2.377238	0.30511	18.46	0.91691799860359935	0.20984	0.98331	0.81705	D	AEFDBHCI	0.646313	0.62190	D	-0.837251310872801	0.12366	0.6023255	-0.655536489895803	0.18077	0.9640994	0.999973125585128	0.50053	0.59774	0.34471	0	0.563428	0.19063	0	0.503968	0.08637	0	0.63947	0.58350	0	.	.	4.73	2.64	0.30504	4.827000	0.62413	3.992000	0.40997	-0.244000	0.07312	1.000000	0.71638	1.000000	0.68203	0.925000	0.46118	0.1677:0.0:0.8323:0.0	10.425	0.43557	567	0.70732	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	1331.98	36	chr17	36943072	.	G	T	1331.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.632;DP=819;ExcessHet=0.0000;FS=0.761;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.59;ReadPosRankSum=-2.138e+00;SOR=0.582	GT:AD:DP:GQ:PL	0/1:43,55:98:99:1346,0,933	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	0/1:35,51:86:99:680,0,301	0	0	21	0
chr17	38674170	38674170	T	A	exonic	EPOP	.	nonsynonymous SNV	EPOP:NM_001130677:exon1:c.A326T:p.D109V,	.	.	433	1075	11	3	0	17	0.00784495	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.959	D	0.675	P	.	.	0.662	N	0.695	N	.	.	-0.979	T	0.074	T	0.482	3.776	19.17	1.14	0.356	0.019	3.956	0.113	.	.	0.00119808	0.0130	0	0	0	.	0	0	0.0190	0.0002975	46	154602	rs556372115	0.0006	0.0006	0.0004	0.0008	0.0089	0.0006	0.0005	0.0083	0.0081	0	0.0002	0	0	0	0.0032	0.0001	0.0008	0.0089	0.0004	0.0004	0.0002	0.0005	0.0087	0.0003	0.0003	0.0066	0.0059	2.412e-05	0	0	0	0	0	0.0034	0.0002	0	0.0087	.	.	.	0.18	0.29442	T	0.959	0.55135	D	0.675	0.53279	P	.	.	.	.	0.662495	0.30436	N	.	.	.	.	.	.	.	.	.	0.163	0.17140	-0.9791	0.35208	T	0.074	0.29834	T	8	0.0037613213	0.00070	T	.	.	.	.	.	.	.	0.482646159919	0.47895	0.1984311321445607	0.19760	.	.	.	.	.	0.005784	0.05228	T	-0.39038	0.02675	T	-0.326708	0.41834	T	0.16271990429096	0.18070	T	.	.	.	0.19246536	0.40917	0.20261697	0.44299	0.19246536	0.40917	0.20261697	0.44298	-3.066	0.10909	T	.	.	0.245	0.47944	B	.	.	2.607962	0.33864	19.46	0.99244838359822918	0.56662	0.06059	0.12030	N	AEFDGBHCI	0.040391	0.06003	N	-0.330507870004215	0.27994	1.540474	-0.448256377112887	0.23598	1.287748	0.999905503650973	0.45458	0.443343	0.08805	1	0.552344	0.17405	0	0.666236	0.60216	0	0.56751	0.32155	0	.	.	3.57	1.14	0.19817	-0.901000	0.04201	0.701000	0.20846	0.480000	0.22105	0.000000	0.06391	0.888000	0.27792	0.175000	0.21139	0.0:0.1292:0.2175:0.6533	3.956	0.08885	538	0.73119	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1795.98	34	chr17	38674170	.	T	A	1795.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.057e+00;DP=798;ExcessHet=0.0000;FS=0.977;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=26.41;ReadPosRankSum=1.49;SOR=0.762	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:23,45:68:99:0|1:38674170_T_A:1810,0,810:38674170	20	0	1	0
chr17	38674178	38674178	C	A	exonic	EPOP	.	nonsynonymous SNV	EPOP:NM_001130677:exon1:c.G318T:p.E106D,	.	.	432	1076	11	3	0	17	0.00783771	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.35	T	0.419	B	0.081	B	.	.	0.981	N	0.345	N	.	.	-1.055	T	0.045	T	0.049	2.921	15.73	2.56	0.583	0.123	8.991	0.021	.	.	0.00119808	0.0149	0	0	0	.	0	0	0.0221	0.0002781	43	154602	rs576284104	0.0006	0.0006	0.0004	0.0008	0.0088	0.0006	0.0005	0.0082	0.0080	0	0.0002	0	0	0	0.0032	0.0001	0.0008	0.0088	0.0004	0.0004	0.0002	0.0005	0.0087	0.0003	0.0003	0.0066	0.0059	2.407e-05	0	0	0	0	0	0.0034	0.0002	0	0.0087	.	.	.	0.521	0.10429	T	0.419	0.35307	B	0.081	0.28987	B	.	.	.	.	0.981355	0.25045	N	.	.	.	.	.	.	.	.	.	0.059	0.03069	-1.0546	0.13145	T	0.045	0.19152	T	8	0.0043201447	0.00087	T	.	.	.	.	.	0.103	0.01643	0.0551355673512	0.04727	0.06537897762903715	0.06476	.	.	.	.	.	0.006124	0.05559	T	-0.62245	0.00106	T	-0.661051	0.08195	T	0.034085000609222	0.02652	T	.	.	.	0.05205569	0.09652	0.1286882	0.30956	0.05205569	0.09651	0.1286882	0.30955	-4.53	0.31279	T	.	.	0.135	0.29422	B	.	.	0.694670	0.10635	7.334	0.98726449932449811	0.45289	0.26493	0.23009	N	AEFDGBHCI	0.065866	0.12869	N	-0.685075973955876	0.16446	0.8380174	-0.659382905496746	0.17981	0.9584895	0.999987481268647	0.51787	0.652421	0.48094	0	0.748881	0.99253	0	0.503968	0.08637	0	0.56751	0.32155	0	.	.	3.57	2.56	0.29842	-0.068000	0.11519	0.188000	0.15711	0.434000	0.20985	0.020000	0.19661	0.979000	0.30280	0.189000	0.21571	0.0:0.7712:0.2288:0.0	8.991	0.35183	538	0.73119	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1792.98	34	chr17	38674178	.	C	A	1792.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.499e+00;DP=797;ExcessHet=0.0000;FS=2.088;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=25.99;ReadPosRankSum=1.15;SOR=0.706	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:24,45:69:99:0|1:38674170_T_A:1807,0,835:38674170	20	0	1	0
chr17	40164128	40164128	C	T	exonic	CASC3	.	nonsynonymous SNV	CASC3:NM_007359:exon7:c.C1433T:p.P478L,	.	.	433	1066	22	1	0	24	0.0111317	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.12	T	0.992	D	0.493	P	0.000	D	1.000	D	0	N	.	.	-1.027	T	0.084	T	0.355	1.669	11.54	5.08	2.648	2.499	14.083	0.087	0.0078371103663	0.0005	0.000798722	0.0009	0.0006	0.0018	0	0	0.0009	0.0046	0.0008	0.0008926	138	154602	rs140375987	0.0009	0.0009	0.0008	0.0009	0.0401	0.0009	0.0008	0.0359	0.0342	0.0013	0.0027	0.0011	2.52e-05	5.827e-05	0.0401	0.0006	0.0022	0.0009	0.0009	0.0009	0.0009	0.0010	0.0023	0.0008	0.0008	0.0017	0.0015	0.0007	0	0.0023	0.0009	0	0	0.0340	0.0007	0.0066	0.0006	0.005	0.63226	D	0.049	0.48336	D	0.985	0.61118	D	0.493	0.47443	P	0.000416	0.44736	D	0.235442	0.999998	0.58761	D	1.67	0.42885	L	.	.	.	-0.66	0.19085	N	0.578	0.59986	-1.0268	0.21494	T	0.084	0.32729	T	9	0.019713819	0.00444	T	0.007837	0.20798	T	0.087	0.25287	.	.	0.232442253697	0.22838	0.2393387749667822	0.23847	0.579947014083	0.53851	0.479171782732	0.35943	T	0.03977	0.25301	T	-0.335218	0.05727	T	-0.259532	0.48871	T	0.0274194980544052	0.01605	T	0.925507	0.72634	D	0.11321392	0.26741	0.06890204	0.14448	0.11321392	0.26741	0.06890204	0.14447	-5.211	0.39054	T	.	.	0.098	0.16143	B	.	.	4.526741	0.71028	25.6	0.92941958910010425	0.22511	0.90570	0.51856	D	AEFBI	0.303224	0.41125	N	0.252908875417437	0.53783	3.545777	0.348133233150198	0.58395	4.009777	0.18512621597521	0.17926	0.719381	0.83141	0	0.723133	0.82719	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.08	5.08	0.68373	2.543000	0.45411	5.912000	0.51036	0.599000	0.40250	0.991000	0.37257	0.999000	0.35428	0.976000	0.56436	0.1511:0.8489:0.0:0.0	14.083	0.64465	204	0.92044	.	.	.	.	.	.	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	366.98	37	chr17	40164128	.	C	T	366.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.971;DP=745;ExcessHet=0.0000;FS=3.972;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.49;ReadPosRankSum=-1.735e+00;SOR=0.194	GT:AD:DP:GQ:PL	0/1:21,14:35:99:381,0,587	20	0	1	0
chr17	40779628	40779628	C	T	splicing	KRT27	NM_181537:exon5:c.847-1G>A	.	.	.	.	427	1086	9	0	0	9	0.00412655	1.0000	0.924	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.000	D	.	.	.	.	.	.	.	.	.	4.209	21.8	5.52	2.754	2.936	18.777	.	.	.	0.0151757	0.0077	9.696e-05	0.0003	0.0001	0	4.52e-05	0.0011	0.0561	0.0068175	1054	154602	rs187944199	0.0034	0.0034	0.0019	0.0049	0.0543	0.0033	0.0033	0.0530	0.0525	5.974e-05	8.946e-05	0	0	0	0.0028	2.338e-05	0.0039	0.0543	0.0018	0.0018	0.0009	0.0027	0.0541	0.0016	0.0015	0.0488	0.0467	0.0001	0	0	0	0.0006	0	0	1.47e-05	0	0.0541	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0383149	0.56825	T	0.323996	0.89257	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.220290	0.94819	34	0.99456976980457279	0.65581	0.87659	0.47272	D	AEFDGBHCI	.	.	.	1.04428177177827	0.96953	15.37492	0.892118857653241	0.95220	13.41913	0.999999999682332	0.74766	0.095506	0.02484	0	0.078755	0.01978	0	0.134018	0.03721	0	0.109499	0.03221	0	0.985857	0.93731	5.52	5.52	0.82153	6.938000	0.75715	7.597000	0.61435	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.599000	0.31363	0.0:1.0:0.0:0.0	18.777	0.91881	65	0.97253	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1818.98	38	chr17	40779628	.	C	T	1818.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.711;DP=1029;ExcessHet=0.0000;FS=2.864;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=21.40;ReadPosRankSum=-7.380e-01;SOR=0.844	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:38,47:85:99:0|1:40779624_C_T:1833,0,1427:40779624	20	0	1	0
chr17	41255418	41255418	-	ACATGCTGCAGGACC	exonic	KRTAP9-9	.	nonframeshift insertion	KRTAP9-9:NM_030975:exon1:c.33_34insACATGCTGCAGGACC:p.C18_W19insCRTTC,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0003	0	0.0003	0.0004	0	0.0002	0	0.0016	.	.	.	.	0.0001	0.0001	0.0001	0.0002	0.0006	0.0001	0.0001	0.0005	0.0004	0	9.887e-05	0	0.0006	0	0.0003	9.047e-05	0.0002	0.0006	0.0003	0.0002	0.0002	0.0004	0.0009	0.0002	0.0002	0.0003	0.0003	9.301e-05	0	0	0	0	0	0	0.0006	0	0.0009	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.619	31242.72	98	chr17	41255418	.	T	TACCTGCTGCAGGACC,TACATGCTGCAGGACC	31242.72	.	AC=26,1;AF=0.619,0.024;AN=42;BaseQRankSum=2.14;DP=2539;ExcessHet=0.0001;FS=5.599;InbreedingCoeff=0.7311;MLEAC=26,1;MLEAF=0.619,0.024;MQ=52.57;MQRankSum=-1.273e+00;QD=33.81;ReadPosRankSum=-3.744e+00;SOR=1.018	GT:AD:DP:GQ:PL	1/1:0,50,0:50:99:2180,144,0,2186,150,2192	6	11	3	0
chr17	41382308	41382308	A	G	exonic	KRT34	.	nonsynonymous SNV	KRT34:NM_021013:exon1:c.T65C:p.L22P,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	0.976	D	0.556	P	.	.	0.999	D	0	N	.	.	-1.043	T	0.078	T	0.65	0.858	8.471	5.17	2.241	1.916	5.942	0.134	0.018428726593	.	.	8.238e-06	0	0	0	0	0	0.0011	0	7.76e-05	12	154602	rs756013781	5.481e-06	0.0003	8.182e-06	2.754e-06	2.236e-05	2.36e-06	1.7e-06	1.94e-06	1.28e-06	0	2.236e-05	0	0	0	0	5.403e-06	1.659e-05	0	6.571e-06	6.567e-06	0	1.345e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	.	.	.	0.003	0.76473	D	0.976	0.58310	D	0.556	0.49411	P	.	.	.	.	0.999455	0.47118	D	1.245	0.31408	L	-1.89	0.84557	D	.	.	.	0.669	0.67736	-1.0427	0.16503	T	0.078	0.31042	T	8	0.66327584	0.70279	D	0.018429	0.40491	T	.	.	0.428	0.47515	0.761221526906	0.75905	0.03657958571385173	0.03604	0.342438391368	0.36184	0.435077399015	0.29903	T	0.021796	0.16915	T	0.121469	0.66520	D	-0.0632948	0.66101	T	0.91840136051178	0.57665	D	0.333767	0.07077	T	0.1847125	0.39799	0.32490122	0.58410	0.1847125	0.39799	0.32490122	0.58410	-3.974	0.23413	T	.	.	0.079	0.07130	B	.	.	1.715876	0.21849	15.37	0.98901740872576172	0.48199	0.67040	0.33290	D	AEFDBCI	0.211856	0.33761	N	0.136755772330337	0.48185	3.034055	0.188891208117852	0.49238	3.129369	0.733449985707655	0.23090	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.17	5.17	0.70848	1.869000	0.39156	2.221000	0.31450	0.660000	0.55035	0.999000	0.42656	1.000000	0.68203	0.332000	0.25247	0.7462:0.1678:0.086:0.0	5.942	0.18435	167	0.93508	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	515.5	33	chr17	41382308	.	A	G	515.5	.	AC=7;AF=0.167;AN=42;BaseQRankSum=-4.707e+00;DP=1692;ExcessHet=2.5830;FS=114.231;InbreedingCoeff=-0.1984;MLEAC=7;MLEAF=0.167;MQ=60.00;MQRankSum=0.00;QD=0.52;ReadPosRankSum=0.774;SOR=10.397	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:122,16:138:13:0|1:41382308_A_G:13,0,4750:41382308	14	0	7	0
chr17	41382311	41382311	C	G	exonic	KRT34	.	nonsynonymous SNV	KRT34:NM_021013:exon1:c.G62C:p.R21T,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.16	T	0.049	B	0.026	B	.	.	0.998	N	0	N	.	.	-1.026	T	0.039	T	0.473	0.716	7.813	-0.174	0.122	-0.215	4.436	0.084	0.00843288255634	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.114e-05	0.0014	3.86e-05	2.362e-05	3.828e-05	2.374e-05	2.119e-05	2.866e-05	2.541e-05	0	0	3.836e-05	2.523e-05	0	0	3.828e-05	0	1.165e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.187	0.28764	T	0.049	0.22227	B	0.026	0.20792	B	.	.	.	.	0.997716	0.22540	N	0.755	0.19153	N	-1.61	0.82254	D	.	.	.	0.508	0.53972	-1.0258	0.21821	T	0.039	0.16892	T	8	0.18996203	0.34618	T	0.008433	0.22307	T	.	.	0.37	0.38013	0.612421581757	0.60929	0.08565298375764323	0.08499	0.0546681382285	0.06050	0.306222051382	0.11336	T	0.02167	0.16835	T	-0.00440713	0.51045	T	-0.244107	0.50396	T	0.0275842688571556	0.01628	T	0.50295	0.15803	T	0.07200823	0.15984	0.06444694	0.12916	0.07200823	0.15984	0.06444694	0.12916	-3.403	0.15097	T	.	.	0.119	0.24294	B	.	.	1.042832	0.14237	10.81	0.88324392343806579	0.17887	0.65189	0.32654	D	AEFDBCI	0.111491	0.22072	N	-0.660458155333548	0.17157	0.8804225	-0.554068222297903	0.20697	1.116332	0.0465120987434442	0.14694	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.17	-0.174	0.12665	0.036000	0.13706	-0.541000	0.08582	0.596000	0.33519	0.869000	0.30776	0.000000	0.08366	0.387000	0.26492	0.1565:0.3623:0.0:0.4812	4.436	0.10975	167	0.93508	.	.	.	.	.	.	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	438.29	101	chr17	41382311	.	C	G,T	438.29	.	AC=5,2;AF=0.119,0.048;AN=42;BaseQRankSum=-4.980e+00;DP=1764;ExcessHet=2.5830;FS=106.599;InbreedingCoeff=-0.1982;MLEAC=5,2;MLEAF=0.119,0.048;MQ=60.00;MQRankSum=0.00;QD=0.44;ReadPosRankSum=0.860;SOR=10.236	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:121,16,0:137:16:0|1:41382308_A_G:16,0,4729,379,4776,5156:41382308	14	0	5	0
chr17	41382311	41382311	C	T	exonic	KRT34	.	nonsynonymous SNV	KRT34:NM_021013:exon1:c.G62A:p.R21K,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	T	0.0	B	0.001	B	.	.	1.000	N	0	N	.	.	-1.031	T	0.039	T	0.176	1.278	10.17	-0.174	0.122	-0.215	4.436	0.072	0.00559261676492	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.204	0.27235	T	0.0	0.02946	B	0.001	0.04355	B	.	.	.	.	0.999663	0.20745	N	1.1	0.28011	L	-1.55	0.81727	D	.	.	.	0.199	0.21969	-1.0308	0.20195	T	0.039	0.16935	T	8	0.08334431	0.13855	T	0.005593	0.14439	T	.	.	0.293	0.25560	0.657325010897	0.65446	0.07906609140832596	0.07841	0.0402348126993	0.04305	0.306056171656	0.11311	T	0.021002	0.16432	T	-0.119232	0.33249	T	-0.409045	0.32335	T	0.0497427848752955	0.05455	T	0.382662	0.09313	T	0.069265865	0.15160	0.074363045	0.16259	0.069265865	0.15160	0.074363045	0.16259	-2.912	0.09264	T	.	.	0.091	0.13080	B	.	.	1.087164	0.14705	11.26	0.93968684478021924	0.24041	0.45317	0.27512	N	AEFDBCI	0.063292	0.12223	N	-0.668850020287515	0.16912	0.8658866	-0.557939429380533	0.20595	1.110326	0.0465120987434442	0.14694	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.17	-0.174	0.12665	0.036000	0.13706	-0.541000	0.08582	0.596000	0.33519	0.869000	0.30776	0.000000	0.08366	0.387000	0.26492	0.1565:0.3623:0.0:0.4812	4.436	0.10975	167	0.93508	.	.	.	.	.	.	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	438.29	101	chr17	41382311	.	C	G,T	438.29	.	AC=5,2;AF=0.119,0.048;AN=42;BaseQRankSum=-4.980e+00;DP=1764;ExcessHet=2.5830;FS=106.599;InbreedingCoeff=-0.1982;MLEAC=5,2;MLEAF=0.119,0.048;MQ=60.00;MQRankSum=0.00;QD=0.44;ReadPosRankSum=0.860;SOR=10.236	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:121,16,0:137:16:0|1:41382308_A_G:16,0,4729,379,4776,5156:41382308	14	0	5	0
chr17	41382313	41382313	C	G	exonic	KRT34	.	nonsynonymous SNV	KRT34:NM_021013:exon1:c.G60C:p.E20D,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.55	T	0.682	P	0.142	B	.	.	0.996	N	0	N	.	.	-1.079	T	0.031	T	0.258	1.036	9.231	4.2	1.489	1.219	9.384	0.057	0.0112921981246	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.636	0.07059	T	0.682	0.41464	P	0.142	0.33681	B	.	.	.	.	0.995951	0.23155	N	1.1	0.28011	L	-1.61	0.82254	D	.	.	.	0.319	0.35938	-1.0787	0.07602	T	0.031	0.13330	T	8	0.1758697	0.32541	T	0.011292	0.28764	T	.	.	0.215	0.13498	0.749038299637	0.74677	0.027389334383383892	0.02688	0.0406601577266	0.04362	0.292538791895	0.09292	T	0.021114	0.16497	T	-0.035849	0.46564	T	-0.289271	0.45849	T	0.188235579082126	0.19740	T	0.391661	0.09743	T	0.077502705	0.17596	0.08187276	0.18640	0.077502705	0.17595	0.08187276	0.18640	-4.176	0.26403	T	.	.	0.107	0.19919	B	.	.	1.323781	0.17281	13.07	0.98311074385310038	0.40144	0.83088	0.42236	D	AEFDBCI	0.178885	0.30617	N	-0.267547482617439	0.30410	1.695319	-0.155453402914047	0.33199	1.896604	0.828972100147742	0.24658	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.17	4.2	0.48814	1.950000	0.39948	0.265000	0.16590	0.596000	0.33519	0.898000	0.31380	0.000000	0.08366	0.407000	0.26939	0.0:0.8322:0.0:0.1678	9.384	0.37494	167	0.93508	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.119	263.85	46	chr17	41382313	.	C	G,T	263.85	.	AC=3,2;AF=0.071,0.048;AN=42;BaseQRankSum=-5.135e+00;DP=1402;ExcessHet=1.1607;FS=111.246;InbreedingCoeff=-0.1348;MLEAC=3,2;MLEAF=0.071,0.048;MQ=60.00;MQRankSum=0.00;QD=0.38;ReadPosRankSum=0.938;SOR=9.490	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:120,16,0:136:19:0|1:41382308_A_G:19,0,4689,379,4737,5116:41382308	16	0	3	0
chr17	42502837	42502837	A	G	exonic	ATP6V0A1	.	nonsynonymous SNV	ATP6V0A1:NM_001378534:exon18:c.A2069G:p.Q690R	.	.	966	554	2	0	0	2	0.0018018	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00119808	0.0006	0	0	0	0	0	0	0.0089	0.0002587	40	154602	rs532635532	0.0023	6.043e-05	0	0.0038	.	0	0	.	.	.	.	.	.	0.0023	.	0	0	0	0.0010	0.0010	0.0010	0.0011	0.0027	0.0009	0.0009	0.0016	0.0013	0.0002	0	0.0002	0	0	0.0031	0	0.0015	0.0005	0.0027	.	.	.	0.531	0.10069	T	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	-2.18	0.86722	D	.	.	.	.	.	.	.	.	.	.	.	.	0.0125415325	0.00269	T	.	.	.	.	.	.	.	0.880938776493	0.87977	.	.	.	.	.	.	.	.	.	.	-0.0228192	0.48450	T	0.198171	0.83028	D	.	.	.	0.324568	0.06628	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.080	0.07889	B	.	.	3.064261	0.41164	21.3	0.74265743189696898	0.10632	0.82460	0.41684	D	AEFBI	0.141130	0.26322	N	.	.	.	.	.	.	0.0354425534384302	0.14200	0.372202	0.05800	0	0.546412	0.12157	0	0.54472	0.12158	0	0.714379	0.83352	0	.	.	5.25	4.17	0.48303	1.258000	0.32547	3.144000	0.36496	0.756000	0.94297	0.936000	0.32490	0.972000	0.29809	0.998000	0.85391	0.7147:0.2078:0.0775:0.0	7.257	0.25356	165	0.93588	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	909.98	33	chr17	42502837	.	A	G	909.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.813e+00;DP=771;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.83;ReadPosRankSum=-2.659e+00;SOR=0.699	GT:AD:DP:GQ:PL	0/1:43,41:84:99:924,0,1114	20	0	1	0
chr17	43013785	43013785	G	A	exonic	IFI35	.	nonsynonymous SNV	IFI35:NM_001330230:exon6:c.G572A:p.R191H	.	.	418	1059	42	3	0	48	0.0221607	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.58	T	0.005	B	0.008	B	0.804	N	1.000	N	-0.14	N	0.85	T	-1.024	T	0.043	T	0.035	0.392	6.130	-1.77	-0.297	0.020	10.510	0.124	.	0.0070	0.00439297	0.0078	0.0010	0.0029	0.0002	0.0022	0.0105	0.0047	0.0106	0.0072315	1118	154602	rs146311145	0.0072	0.0072	0.0068	0.0075	0.0241	0.0070	0.0070	0.0209	0.0196	0.0009	0.0033	0.0500	0.0001	0.0031	0.0241	0.0063	0.0100	0.0119	0.0055	0.0055	0.0059	0.0051	0.0112	0.0052	0.0051	0.0088	0.0079	0.0010	0.0022	0.0033	0.0470	0	0.0017	0.0272	0.0071	0.0114	0.0112	0.474	0.11659	T	0.604	0.07842	T	0.005	0.12996	B	0.008	0.13708	B	0.804143	0.06787	N	1.087340	0.999974	0.18612	N	0.82	0.20857	L	0.85	0.47130	T	-1.65	0.42763	N	0.026	0.00770	-1.0243	0.22311	T	0.043	0.18326	T	10	0.0034869611	0.00062	T	.	.	.	0.124	0.34239	.	.	0.316198179892	0.31222	0.3796571607327325	0.37880	0.0828921084784	0.09354	0.216862440109	0.01137	T	0.006675	0.06097	T	-0.686016	0.00044	T	-0.750229	0.03477	T	0.00723688116875723	0.00083	T	0.684632	0.29288	T	0.030894008	0.02832	0.045393538	0.06098	0.030894008	0.02831	0.045393538	0.06098	-6.899	0.53292	T	.	.	0.071	0.04806	B	.;.	.;.	0.716264	0.10854	7.529	0.72552883588186612	0.10013	0.13481	0.17880	N	AEFDGBCI	0.066064	0.12918	N	-1.01362901966849	0.08320	0.3897128	-0.936659194844358	0.11234	0.5710384	0.998372640843774	0.36850	0.67177	0.52595	0	0.702456	0.74545	0	0.489635	0.07774	0	0.711	0.71501	0	.	.	5.22	-1.77	0.07551	-1.017000	0.03740	0.730000	0.21079	-0.106000	0.15538	0.000000	0.06391	0.001000	0.17328	0.241000	0.23027	0.5709:0.0:0.4291:0.0	10.510	0.44045	319	0.87030	Nmi/IFP 35 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	2605.11	60	chr17	43013785	.	G	A	2605.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.99;DP=1296;ExcessHet=0.1072;FS=8.109;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=12.83;ReadPosRankSum=1.45;SOR=1.181	GT:AD:DP:GQ:PL	0/1:54,56:110:99:1494,0,1378	19	0	2	0
chr17	43209576	43209576	C	T	exonic	NBR1	.	nonsynonymous SNV	NBR1:NM_001291571:exon21:c.C2747T:p.S916L,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.0	B	0.001	B	.	.	1.000	N	.	.	.	.	-1.001	T	0.077	T	.	0.422	6.290	0.668	0.179	-0.690	6.907	0.099	0.00247799293091	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.892e-06	2.736e-06	0	5.862e-06	5.049e-05	6.8e-07	4.6e-07	1.678e-05	9.94e-06	0	0	0	0	0	0	0	0	5.049e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.02946	B	0.001	0.04355	B	.	.	.	.	1	0.08975	N	.	.	.	0.89	0.45636	T	.	.	.	0.231	0.25989	-1.0011	0.29602	T	0.077	0.30828	T	7	0.083803385	0.13980	T	0.002478	0.04925	T	.	.	0.34	0.33141	0.177238962908	0.17366	.	.	.	.	.	.	.	.	.	.	-0.208605	0.19577	T	-0.537423	0.18551	T	0.0225476848085301	0.00970	T	0.474053	0.14146	T	.	.	.	.	.	.	.	.	-2.953	0.09684	T	.	.	0.104	0.18705	B	.	.	0.197311	0.05827	2.267	0.68196843098406135	0.08585	0.03259	0.08291	N	AEFBI	0.040444	0.06017	N	-0.901074322236357	0.10816	0.5188141	-0.995857017767948	0.09878	0.4940473	4.44860287574638E-4	0.07004	0.475973	0.10046	0	0.601575	0.49859	0	0.463624	0.06942	0	0.221012	0.04332	2	.	.	3.12	0.668	0.17081	-0.683000	0.05280	-0.427000	0.09246	0.530000	0.24713	0.000000	0.06391	0.000000	0.08366	0.146000	0.20164	0.0:0.7932:0.0:0.2068	6.907	0.23497	505	0.75648	.	.	.	.	.	.	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	0.375	945.77	54	chr17	43209576	.	C	T,G	945.77	.	AC=4,2;AF=0.250,0.125;AN=16;BaseQRankSum=-2.204e+00;DP=843;ExcessHet=1.7912;FS=369.161;InbreedingCoeff=-0.4233;MLEAC=7,3;MLEAF=0.438,0.188;MQ=60.00;MQRankSum=0.00;QD=2.89;ReadPosRankSum=0.771;SOR=8.977	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:25,8,0:33:99:0|1:43209576_C_T:132,0,739,206,763,969:43209576	2	0	4	13
chr17	43209576	43209576	C	G	exonic	NBR1	.	stopgain	NBR1:NM_001291571:exon21:c.C2747G:p.S916X,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	.	.	.	.	.	.	0.966	N	.	.	.	.	.	.	.	.	.	0.298	5.615	0.668	0.179	-0.690	6.907	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.983113	0.39974	D	.	.	.	.	.	.	.	.	.	0.119	0.10911	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.411962	0.01929	T	-0.829532	0.01270	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.115114	0.05136	1.662	0.67607967295508664	0.08405	0.08425	0.14356	N	AEFBI	0.032893	0.03801	N	-0.577608091250192	0.19625	1.028636	-0.768591458878559	0.15266	0.8020448	4.44860287574638E-4	0.07004	0.475973	0.10046	0	0.601575	0.49859	0	0.463624	0.06942	0	0.221012	0.04332	2	.	.	3.12	0.668	0.17081	-0.683000	0.05280	-0.427000	0.09246	0.530000	0.24713	0.000000	0.06391	0.000000	0.08366	0.146000	0.20164	0.0:0.7932:0.0:0.2068	6.907	0.23497	505	0.75648	.	.	.	.	.	.	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	945.77	54	chr17	43209576	.	C	T,G	945.77	.	AC=4,2;AF=0.250,0.125;AN=16;BaseQRankSum=-2.204e+00;DP=843;ExcessHet=1.7912;FS=369.161;InbreedingCoeff=-0.4233;MLEAC=7,3;MLEAF=0.438,0.188;MQ=60.00;MQRankSum=0.00;QD=2.89;ReadPosRankSum=0.771;SOR=8.977	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:25,8,0:33:99:0|1:43209576_C_T:132,0,739,206,763,969:43209576	2	0	4	13
chr17	50548440	50548440	A	G	exonic	SPATA20	.	nonsynonymous SNV	SPATA20:NM_001258372:exon2:c.A235G:p.N79D	.	.	414	1083	25	0	0	25	0.0114103	.	.	2811471	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0	D	0.999	D	0.99	D	0.000	D	1.000	D	2.96	M	0.83	T	-0.389	T	0.253	T	0.544	4.482	24.0	4.59	1.918	4.754	10.322	0.470	0.0361846041077	0.0039	0.00359425	0.0042	0.0007	0.0029	0	0.0008	0.0059	0.0056	0.0040	0.0042432	656	154602	rs145670888	0.0049	0.0049	0.0049	0.0049	0.0184	0.0048	0.0047	0.0155	0.0145	0.0011	0.0033	0.0133	7.557e-05	0.0009	0.0184	0.0051	0.0057	0.0043	0.0040	0.0040	0.0043	0.0037	0.0052	0.0037	0.0036	0.0048	0.0046	0.0010	0.0504	0.0043	0.0161	0	0.0005	0.0272	0.0052	0.0057	0.0039	0.0	0.91255	D	0.0	0.92824	D	0.998	0.77913	D	0.988	0.78936	D	0.000000	0.84330	D	0.000000	0.999889	0.50402	D	3.015	0.86134	M	0.83	0.47815	T	-4.6	0.78976	D	0.709	0.71676	-0.3887	0.72383	T	0.253	0.62337	T	10	0.017895311	0.00385	T	0.036185	0.56830	D	0.470	0.76421	.	.	0.690399711728	0.68774	0.6965168757279541	0.69592	0.839685681929	0.67980	0.645402669907	0.59331	T	0.312235	0.68407	T	-0.303972	0.08289	T	-0.207077	0.53973	T	0.0526040994866846	0.05951	T	0.988539	0.96067	D	0.8381297	0.86475	0.7514801	0.85310	0.8381297	0.86477	0.7514801	0.85311	-12.059	0.86042	D	.	.	0.740	0.75209	P	.;.;.;.	.;.;.;.	4.294546	0.65523	24.8	0.99748116948115517	0.84002	0.93535	0.58482	D	AEFDBI	0.598197	0.59169	D	0.70968945048669	0.80268	7.256726	0.626845165808188	0.76896	6.576254	0.999999816269473	0.74766	0.732398	0.92422	0	0.643519	0.57511	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	4.59	4.59	0.56297	5.788000	0.68670	8.006000	0.76170	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.964000	0.52637	0.9195:0.0:0.0805:0.0	10.322	0.42957	944	0.12746	.;.;Domain of unknown function DUF255;Domain of unknown function DUF255	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	3435.98	45	chr17	50548440	.	A	G	3435.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.651e+00;DP=1502;ExcessHet=0.0000;FS=0.459;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.58;ReadPosRankSum=-2.000e-01;SOR=0.655	GT:AD:DP:GQ:PL	0/1:114,139:253:99:3450,0,2911	20	0	1	0
chr17	58195171	58195171	G	A	splicing	EPX	NM_000502:exon6:c.801+1G>A	.	.	.	.	2	1503	15	2	0	19	0.00628099	1.0000	0.926	778283	Eosinophil_peroxidase_deficiency|not_provided	MONDO:MONDO:0043364,MedGen:C1850000,OMIM:261500|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.000	D	.	.	.	.	.	.	.	.	.	3.058	16.21	3.4	1.175	9.178	11.675	.	.	0.0025	0.00179712	0.0020	0.0002	0.0010	0	0.0027	0.0026	0.0022	0.0019	0.0020246	313	154602	rs34599426	0.0026	0.0027	0.0026	0.0026	0.0074	0.0026	0.0025	0.0056	0.0050	0.0016	0.0016	3.828e-05	0	0.0021	0.0074	0.0029	0.0026	0.0021	0.0019	0.0019	0.0020	0.0018	0.0029	0.0017	0.0017	0.0026	0.0025	0.0006	0	0.0021	0	0	0.0026	0.0034	0.0029	0.0019	0.0008	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.0659237	0.41977	T	0.133482	0.79120	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.802340	0.95754	35	0.98478825570724715	0.41954	0.99368	0.95115	D	AEFDBI	.	.	.	1.01214186824273	0.96105	14.30798	0.811249450674583	0.90567	10.46526	0.00594013565053865	0.11083	0.032271	0.00213	1	0.059962	0.00310	0	0.044551	0.00207	1	0.058706	0.01089	0	0.872305	0.53960	4.38	3.4	0.38031	9.558000	0.97240	7.461000	0.59055	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.922000	0.45779	0.0:0.0:0.8213:0.1787	11.675	0.50686	550	0.72197	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	693.98	39	chr17	58195171	.	G	A	693.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.65;DP=630;ExcessHet=0.0000;FS=1.771;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.42;ReadPosRankSum=-1.227e+00;SOR=1.402	GT:AD:DP:GQ:PL	0/1:23,22:45:99:708,0,647	20	0	1	0
chr17	58312003	58312003	G	A	exonic	TSPOAP1	.	nonsynonymous SNV	TSPOAP1:NM_024418:exon16:c.C2638T:p.P880S	.	.	422	1093	6	1	0	8	0.00364631	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4	T	0.502	P	0.262	B	0.009	N	0.957	N	1.1	L	3.68	T	-1.017	T	0.101	T	0.121	2.716	15.04	4.95	2.474	3.247	11.092	0.070	0.00566992452187	0.0002	0.000199681	0.0003	9.827e-05	0.0003	0	0	0.0002	0.0012	0.0006	0.0002199	34	154602	rs138562714	0.0002	0.0002	0.0002	0.0003	0.0050	0.0002	0.0002	0.0036	0.0031	0.0003	0.0005	3.832e-05	0	1.893e-05	0.0050	0.0001	0.0005	0.0009	7.878e-05	7.873e-05	5.139e-05	0.0001	0.0001	4.493e-05	3.509e-05	5.843e-05	4.24e-05	2.406e-05	0	0.0001	0	0	0	0	0.0001	0.0005	0	0.248	0.17239	T	0.09	0.40267	T	0.502	0.37193	P	0.262	0.39564	B	0.009121	0.30503	N	0.351936	0.973814	0.26268	N	1.1	0.28011	L	3.68	0.04151	T	0.03	0.06612	N	0.117	0.10626	-1.0166	0.24819	T	0.101	0.37468	T	10	0.06602779	0.08994	T	0.00567	0.14681	T	0.070	0.20419	.	.	0.425499470309	0.42167	0.18220160998265594	0.18139	0.216757167542	0.24195	0.391065776348	0.23819	T	0.011355	0.10143	T	-0.525978	0.00406	T	-0.632514	0.10224	T	0.0259778236304201	0.01402	T	0.623338	0.24021	T	0.074781075	0.16806	0.070836164	0.15097	0.074781075	0.16806	0.070836164	0.15097	-8.604	0.65116	D	.	.	0.096	0.15520	B	.;.;.	.;.;.	2.284995	0.29223	18.05	0.99098688200838247	0.52396	0.88102	0.47885	D	AEFDGBCI	0.626301	0.60917	D	-0.035955401307219	0.40231	2.385767	0.117364380548378	0.45437	2.806884	0.999987061470551	0.51787	0.660377	0.49826	0	0.694456	0.67091	0	0.658983	0.55881	0	0.613276	0.41899	0	.	.	4.95	4.95	0.64894	2.807000	0.47652	6.646000	0.56200	0.676000	0.76740	0.585000	0.27626	1.000000	0.68203	0.999000	0.91618	0.0853:0.0:0.9147:0.0	11.092	0.47339	310	0.87484	.;.;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	1308.98	36	chr17	58312003	.	G	A	1308.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.990;DP=867;ExcessHet=0.0000;FS=1.650;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.78;ReadPosRankSum=-1.190e-01;SOR=0.888	GT:AD:DP:GQ:PL	0/1:44,51:95:99:1323,0,1095	20	0	1	0
chr17	59964653	59964653	A	C	exonic	RNFT1	.	nonsynonymous SNV	RNFT1:NM_016125:exon1:c.T11G:p.F4C,	.	.	420	1097	4	1	0	6	0.00272727	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.004	B	0.003	B	.	.	1.000	N	0.69	N	0.75	T	-1.023	T	0.064	T	0.213	2.349	13.81	-2.97	-0.778	0.543	0.946	0.029	.	0.0015	0.00279553	0.0023	0.0005	0.0016	0.0076	0	0.0021	0.002	0.0016	0.0015718	243	154602	rs200050289	0.0020	0.0020	0.0021	0.0019	0.0040	0.0020	0.0019	0.0027	0.0023	0.0006	0.0011	0.0021	0.0024	9.508e-05	0.0040	0.0021	0.0035	0.0014	0.0016	0.0016	0.0018	0.0014	0.0058	0.0014	0.0013	0.0042	0.0036	0.0007	0	0.0012	0.0012	0.0058	0	0.0034	0.0022	0.0019	0.0010	0.0	0.91255	D	0.0	0.92824	D	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.20249	N	1.1	0.28011	L	0.75	0.50192	T	-0.99	0.26200	N	0.417	0.45709	-1.0233	0.22638	T	0.064	0.26385	T	9	0.0041981637	0.00083	T	.	.	.	0.029	0.06676	.	.	0.21279746466	0.20884	0.195549915001044	0.19471	0.217205961561	0.24235	0.51261395216	0.40587	T	0.013214	0.11472	T	-0.483325	0.00708	T	-0.464982	0.26060	T	0.101485869324068	0.12519	T	0.481652	0.14579	T	0.2342145	0.46238	0.24625848	0.50131	0.2342145	0.46238	0.24625848	0.50130	-3.764	0.20268	T	.	.	0.168	0.56818	B	.;.	.;.	1.884920	0.23939	16.21	0.70552309634704746	0.09333	0.09551	0.15282	N	ALL	0.080924	0.16368	N	-1.11891456836344	0.06307	0.289972	-1.20401182359561	0.05845	0.279665	0.99999999997961	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	4.08	-2.97	0.05195	0.398000	0.20624	0.706000	0.20886	0.733000	0.85838	0.006000	0.17386	0.000000	0.08366	0.068000	0.16518	0.3751:0.1643:0.3007:0.1599	0.946	0.01279	251	0.90153	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	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	506.98	38	chr17	59964653	.	A	C	506.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.79;DP=798;ExcessHet=0.0000;FS=8.123;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.35;ReadPosRankSum=0.505;SOR=1.828	GT:AD:DP:GQ:PL	0/1:28,21:49:99:521,0,650	20	0	1	0
chr17	63493576	63493576	T	C	exonic	ACE	.	nonsynonymous SNV	ACE:NM_001382702:exon8:c.T791C:p.I264T	Renal tubular dysgenesis, Autosomal recessive	.	0	1521	1	0	0	1	0.000328623	.	.	878085	Renal_tubular_dysgenesis|not_provided	Human_Phenotype_Ontology:HP:0008660,MONDO:MONDO:0017609,MedGen:C0266313,Orphanet:3033|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0	D	0.999	D	0.999	D	0.000	D	1.000	D	3.705	H	0.9	T	-0.014	T	0.369	T	0.957	2.466	14.21	4.91	1.835	8.005	14.540	0.622	0.0583919575628	0.0012	0.00139776	0.0004	0.0029	0.0007	0.0001	0	1.5e-05	0.0011	0.0006	0.0004204	65	154602	rs4976	0.0002	0.0002	0.0002	0.0002	0.0032	0.0002	0.0002	0.0027	0.0025	0.0032	0.0004	3.826e-05	0.0009	1.872e-05	0.0009	0.0001	0.0004	0.0006	0.0012	0.0012	0.0013	0.0011	0.0037	0.0010	0.0010	0.0032	0.0030	0.0037	0	0.0010	0	0.0006	0	0	5.881e-05	0	0.0006	0.001	0.78490	D	0.002	0.83351	D	0.999	0.77913	D	0.988	0.92359	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.685	0.94485	H	0.9	0.45248	T	-3.35	0.74742	D	0.869	0.86618	-0.0143	0.81957	T	0.369	0.72857	T	10	0.04877478	0.04375	T	0.058392	0.67303	D	0.622	0.85354	.	.	0.920136614771	0.91933	0.5378218431907178	0.53707	0.530389991159	0.50578	0.495788037777	0.38240	T	0.343915	0.71250	T	-0.0298869	0.47434	T	0.183773	0.82213	D	0.098841798284766	0.12229	T	0.986001	0.95258	D	0.91994774	0.93242	0.8276723	0.90034	0.9532661	0.96599	0.8856319	0.93958	-10.423	0.76403	D	0.6418762351831973	0.71272	0.375	0.63684	A	.;.;.;.	.;.;.;.	4.785230	0.77595	26.7	0.96480093863898186	0.29967	0.94026	0.59890	D	AEFDBCI	0.958460	0.97826	D	0.878069165961534	0.90643	10.499	0.777282027812489	0.88173	9.484075	0.999998139639061	0.74766	0.615465	0.37627	0	0.547309	0.14657	0	0.658983	0.55881	0	0.636168	0.56350	0	.	.	4.91	4.91	0.63897	7.979000	0.87701	7.874000	0.72122	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.865000	0.41091	0.0:0.0:0.0:1.0	14.540	0.67572	937	0.14592	.;.;.;.	.	.	.	.	.	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	1135.98	33	chr17	63493576	.	T	C	1135.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.194e+00;DP=797;ExcessHet=0.0000;FS=1.597;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.25;ReadPosRankSum=-4.120e-01;SOR=0.527	GT:AD:DP:GQ:PL	0/1:53,48:101:99:1150,0,1394	20	0	1	0
chr17	63909824	63909824	C	T	exonic	CSHL1	.	nonsynonymous SNV	CSHL1:NM_001318:exon4:c.G274A:p.A92T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.21	T	0.034	B	0.014	B	0.012	N	0.998	N	0.86	L	-2.45	D	-0.698	T	0.361	T	0.318	-0.526	1.602	0.211	-0.480	0.522	8.462	0.224	0.0529039886261	0.0006	0.000798722	0.0002	0.0017	8.637e-05	0	0	4.495e-05	0	0.0001	0.000207	32	154602	rs139297172	6.089e-05	6.088e-05	7.352e-05	4.813e-05	0.0015	5.028e-05	4.672e-05	0.0011	0.0010	0.0015	0.0001	0	0	0	0.0002	2.159e-05	3.312e-05	8.116e-05	0.0005	0.0005	0.0004	0.0005	0.0016	0.0004	0.0003	0.0013	0.0011	0.0016	0	6.535e-05	0	0	0	0	5.88e-05	0	0	0.184	0.22660	T	0.333	0.20486	T	0.034	0.20480	B	0.014	0.16862	B	0.011958	0.29343	N	0.322809	0.999999	0.22124	N	0.575	0.15311	N	-2.45	0.88847	D	-1.62	0.38924	N	0.094	0.30004	-0.6983	0.60519	T	0.361	0.72284	T	10	0.03882116	0.02328	T	0.052904	0.65257	D	0.224	0.52174	.	.	0.428516003163	0.42472	0.25157718969156545	0.25071	0.0235759496406	0.02391	0.281430840492	0.07693	T	0.150049	0.48933	T	-0.340743	0.05337	T	-0.286857	0.46098	T	0.00572369176372019	0.00062	T	0.761424	0.47570	T	0.052056704	0.09652	0.06453542	0.12947	0.052056704	0.09651	0.06453542	0.12947	-3.047	0.26708	T	.	.	0.074	0.06387	B	.;.;.;.;.	.;.;.;.;.	1.070291	0.14528	11.09	0.77844396398394222	0.12046	0.04923	0.10678	N	AEFGBI	0.072213	0.14403	N	-1.57486253866485	0.01395	0.06080555	-1.59425605803026	0.01690	0.07677186	5.6795432539855E-5	0.04171	0.569682	0.32691	0	0.563428	0.19063	0	0.657636	0.52715	0	0.530356	0.10902	0	.	.	3.6	0.211	0.14512	0.650000	0.24544	-0.094000	0.12022	-0.606000	0.04599	0.276000	0.25103	0.000000	0.08366	0.002000	0.04165	0.2603:0.6546:0.0:0.0851	8.462	0.32093	873	0.30802	.;.;.;.;.	.	.	.	.	.	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	2463.98	95	chr17	63909824	.	C	T	2463.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.97;DP=1979;ExcessHet=0.0000;FS=0.496;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=58.62;MQRankSum=-4.000e-01;QD=11.10;ReadPosRankSum=-7.410e-01;SOR=0.633	GT:AD:DP:GQ:PL	0/1:128,94:222:99:2478,0,3076	20	0	1	0
chr17	67992921	67992921	A	G	exonic	C17orf58	.	stoploss	C17orf58:NM_181656:exon2:c.T226C:p.X76R,	.	.	430	1060	32	0	0	32	0.0148699	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.000	N	.	.	.	.	.	.	.	.	.	-0.549	1.514	-1.23	-0.300	-0.163	0.473	.	.	0.0068	0.00319489	0.0077	0.0011	0.0056	0	0.0026	0.0118	0.0089	0.0024	0.0075808	1172	154602	rs190313223	0.0086	0.0086	0.0087	0.0086	0.0182	0.0085	0.0085	0.0154	0.0143	0.0011	0.0046	0.0116	2.519e-05	0.0026	0.0182	0.0101	0.0082	0.0021	0.0063	0.0063	0.0066	0.0059	0.0106	0.0059	0.0058	0.0099	0.0097	0.0018	0	0.0042	0.0144	0	0.0020	0.0102	0.0106	0.0057	0.0017	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.014	0.00160	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.741056	0.00020	T	-0.824928	0.01355	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.207906	0.05916	2.358	0.59305894313049745	0.06193	0.02565	0.07104	N	AEFDGBHCI	.	.	.	-0.929955126842265	0.10146	0.4834939	-1.13365104741547	0.07065	0.3422861	0.999998403543863	0.74766	0.08998	0.02334	0	0.090139	0.02499	0	0.054209	0.00285	2	0.143876	0.04018	0	0.116346	0.24258	2.72	-1.23	0.08977	-0.321000	0.08060	-0.793000	0.07406	-0.212000	0.08331	0.000000	0.06391	0.000000	0.08366	0.005000	0.06747	0.4314:0.2196:0.1354:0.2136	0.473	0.00499	909	0.22467	.	.	.	C17orf58	Heart_Atrial_Appendage	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	2614.11	34	chr17	67992921	.	A	G	2614.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-1.719e+00;DP=872;ExcessHet=0.1072;FS=2.375;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=12.05;ReadPosRankSum=0.092;SOR=0.523	GT:AD:DP:GQ:PL	0/1:36,52:88:99:1274,0,885	19	0	2	0
chr17	68903472	68903472	G	A	exonic	ABCA8	.	nonsynonymous SNV	ABCA8:NM_001375771:exon18:c.C2243T:p.A748V	.	.	437	1049	35	1	0	37	0.0173302	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3	T	0.003	B	0.005	B	0.441	N	1.000	N	0.84	L	-0.97	T	-1.002	T	0.193	T	0.028	1.003	9.097	-4.32	-0.846	-0.967	3.460	0.052	.	0.0003	0.00199681	0.0017	0	0	0	0	0.0004	0.0044	0.0107	0.0014683	227	154602	rs184161214	0.0010	0.0010	0.0007	0.0014	0.0115	0.0010	0.0010	0.0109	0.0107	2.987e-05	0.0005	0.0002	0	0	0.0066	0.0003	0.0016	0.0115	0.0008	0.0008	0.0006	0.0010	0.0148	0.0007	0.0006	0.0120	0.0110	4.822e-05	0	0.0003	0.0003	0.0002	0	0	0.0005	0.0014	0.0148	0.568	0.06381	T	0.491	0.14412	T	0.002	0.09854	B	0.002	0.06944	B	0.440630	0.04758	N	1.409270	1	0.08975	N	0.695	0.17993	N	-0.97	0.75670	T	0.58	0.03041	N	0.069	0.04188	-1.0025	0.29197	T	0.193	0.54667	T	10	0.0037364364	0.00069	T	.	.	.	0.052	0.14661	.	.	0.469578130381	0.46583	0.14823423802511468	0.14745	0.0573251470501	0.06345	0.262227773666	0.05158	T	0.037209	0.37060	T	-0.61317	0.00121	T	-0.644158	0.09368	T	0.00532305861954774	0.00058	T	0.275172	0.06971	T	0.019498836	0.00482	0.031217244	0.01680	0.019498836	0.00482	0.031217244	0.01680	.	.	.	.	.	0.067	0.03266	B	.;.;.	.;.;.	-0.368211	0.02333	0.251	0.70904960446772303	0.09450	0.05502	0.11389	N	AEFBHCI	0.136810	0.25760	N	-1.48736639363359	0.01938	0.08510498	-1.53869890657539	0.02055	0.09393695	9.66251316486085E-5	0.04910	0.554377	0.28877	0	0.573888	0.26702	0	0.573888	0.23631	0	0.567892	0.33627	0	.	.	5.43	-4.32	0.03433	-0.756000	0.04882	-6.269000	0.01447	-0.546000	0.04920	0.000000	0.06391	0.000000	0.08366	0.103000	0.18424	0.1687:0.2995:0.4231:0.1087	3.460	0.07097	964	0.07719	.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09524	5514.92	34	chr17	68903472	.	G	A	5514.92	.	AC=4;AF=0.095;AN=42;BaseQRankSum=-6.740e-01;DP=1042;ExcessHet=0.6776;FS=0.547;InbreedingCoeff=-0.1053;MLEAC=4;MLEAF=0.095;MQ=60.00;MQRankSum=0.00;QD=12.48;ReadPosRankSum=0.198;SOR=0.762	GT:AD:DP:GQ:PL	0/1:66,63:129:99:1541,0,1631	17	0	4	0
chr17	74930739	74930739	C	A	exonic	OTOP2	.	nonsynonymous SNV	OTOP2:NM_178160:exon6:c.C1104A:p.D368E,	.	.	425	1095	2	0	0	2	0.000912409	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.000	D	0.999	D	2.52	M	1.63	T	-0.742	T	0.168	T	0.858	3.626	18.45	-3.55	-0.462	-1.234	13.678	0.497	0.113828543862	.	.	2.475e-05	0	8.646e-05	0	0	3.003e-05	0	0	1.94e-05	3	154602	rs768778471	5.267e-05	5.267e-05	5.445e-05	5.088e-05	0.0021	4.277e-05	3.953e-05	0.0012	0.0009	2.987e-05	4.472e-05	0	0	0	0.0021	4.766e-05	0.0001	1.159e-05	4.597e-05	4.593e-05	5.14e-05	4.03e-05	7.351e-05	2.108e-05	1.526e-05	2.847e-05	1.858e-05	0	0	0	0	0	0	0.0034	7.351e-05	0.0005	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	0.998525	0.45035	D	3.195	0.89043	M	1.63	0.28002	T	-4.0	0.74051	D	0.891	0.89020	-0.7420	0.58350	T	0.168	0.50826	T	10	0.972224	0.96860	D	0.113829	0.79246	D	0.497	0.78163	0.937	0.99103	0.0551355673512	0.04727	0.8044460776279272	0.80398	0.644957180512	0.57972	0.690911471844	0.65837	T	0.220178	0.58340	T	-0.00144684	0.51454	T	-0.0640079	0.66050	T	0.938636779785156	0.60941	D	0.720928	0.33404	T	0.76415586	0.81699	0.7155444	0.83211	0.76415586	0.81700	0.7155444	0.83212	-9.603	0.71498	D	.	.	0.794	0.77025	P	.;.	.;.	0.755888	0.11254	7.884	0.99454617416472191	0.65479	0.33283	0.24791	N	AEFGBI	0.277130	0.39171	N	-0.23362370962025	0.31761	1.784266	-0.431156531540145	0.24089	1.317154	0.894021293311961	0.25920	0.516011	0.20929	0	0.59043	0.45803	0	0.577349	0.28860	0	0.542086	0.14980	0	.	.	5.47	-3.55	0.04343	-1.490000	0.02409	-13.095000	0.00480	-1.712000	0.00741	0.001000	0.13787	0.000000	0.08366	0.820000	0.38637	0.0:0.3898:0.0:0.6102	13.678	0.61947	923	0.18507	.;.	.	.	.	.	.	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	3546.98	37	chr17	74930739	.	C	A	3546.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=5.44;DP=1150;ExcessHet=0.0000;FS=4.204;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.91;ReadPosRankSum=-1.022e+00;SOR=0.934	GT:AD:DP:GQ:PL	0/1:133,122:255:99:3561,0,3441	20	0	1	0
chr17	75265787	75265787	G	A	exonic	MRPS7	.	nonsynonymous SNV	MRPS7:NM_015971:exon5:c.G593A:p.R198Q,	.	.	428	1091	3	0	0	3	0.001373	.	.	1242051	not_provided|MRPS7-related_disorder	MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.06	T	0.94	P	0.535	P	0.000	D	1.000	D	1.7	L	0.77	T	-0.881	T	0.142	T	0.738	3.375	17.38	6.07	2.885	8.019	20.659	0.187	0.0337677688375	0.0039	0.00239617	0.0043	0.0012	0.0017	0.0007	0.0085	0.0061	0.0033	0.0008	0.0040879	632	154602	rs35418346	0.0043	0.0043	0.0044	0.0042	0.0049	0.0042	0.0042	0.0048	0.0048	0.0007	0.0017	0.0004	0.0006	0.0085	0.0017	0.0049	0.0028	0.0009	0.0033	0.0033	0.0033	0.0032	0.0051	0.0030	0.0029	0.0047	0.0045	0.0007	0	0.0014	0.0003	0.0006	0.0076	0	0.0051	0.0033	0.0012	0.081	0.33418	T	0.181	0.51737	T	0.94	0.52768	P	0.535	0.48708	P	0.000000	0.84330	D	0.000000	1	0.81001	D	2.095	0.58118	M	0.77	0.49642	T	-1.96	0.45404	N	0.404	0.47949	-0.8807	0.49706	T	0.142	0.46220	T	10	0.00783205	0.00178	T	0.033768	0.55213	D	0.187	0.46274	.	.	0.874762915523	0.87353	0.5552199340240755	0.55448	0.16294634426	0.18388	0.425758123398	0.28629	T	0.133385	0.46403	T	-0.232595	0.16306	T	-0.0974883	0.63592	T	0.0299502835657634	0.01982	T	0.892511	0.62902	D	0.2819111	0.51231	0.18007869	0.40784	0.2913625	0.52119	0.19805165	0.43617	-3.892	0.22182	T	0.3007465540644633	0.39808	0.087	0.17103	B	.;.	.;.	4.405525	0.68111	25.2	0.99456858325692044	0.65581	0.97260	0.73641	D	ALL	0.953353	0.96958	D	0.615986230328638	0.74184	6.089948	0.654936953735296	0.78977	6.986488	1.0	0.98316	0.730579	0.87903	0	0.697927	0.68747	0	0.702456	0.68683	0	0.648885	0.59868	0	.	.	6.07	6.07	0.98675	8.146000	0.89551	8.575000	0.77622	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.073000	0.16832	0.0:0.0:1.0:0.0	20.659	0.99629	964	0.07719	Ribosomal protein S7 domain;Ribosomal protein S7 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	1265.98	33	chr17	75265787	.	G	A	1265.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.32;DP=852;ExcessHet=0.0000;FS=4.191;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.38;ReadPosRankSum=-3.010e-01;SOR=1.057	GT:AD:DP:GQ:PL	0/1:81,54:135:99:1280,0,1946	20	0	1	0
chr17	75625888	75625888	-	TGC	exonic	MYO15B	.	nonframeshift insertion	MYO15B:NM_001309242:exon61:c.8869_8870insTGC:p.L2958_R2959insL,	.	.	430	1076	14	2	0	18	0.00829493	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0005	0	0	0	0	0	0	0.0008	3.84e-05	1	26028	rs752091169	0.0002	0.0002	0.0002	0.0003	0.0034	0.0002	0.0002	0.0021	0.0017	0.0002	5.764e-05	4.995e-05	0	0	0.0034	0.0002	0.0005	0.0006	0.0001	0.0001	0.0001	0.0001	0.0008	8.658e-05	7.251e-05	0.0003	0.0002	7.216e-05	0	0.0001	0	0	0	0	0.0002	0	0.0008	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1592.94	34	chr17	75625888	.	G	GTGC	1592.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.07;DP=803;ExcessHet=0.0000;FS=8.585;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.95;ReadPosRankSum=0.126;SOR=1.601	GT:AD:DP:GQ:PL	0/1:52,42:94:99:1607,0,2037	20	0	1	0
chr17	75758221	75758221	G	A	exonic	GALK1	.	nonsynonymous SNV	GALK1:NM_000154:exon7:c.C1096T:p.R366W	Galactokinase deficiency with cataracts, Autosomal recessive	YES	0	1520	2	0	0	2	0.000657462	.	.	329950	Deficiency_of_galactokinase	MONDO:MONDO:0009255,MedGen:C0268155,OMIM:230200,Orphanet:352,Orphanet:79237	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.03	D	0.696	P	0.059	B	.	.	0.996	N	1.975	M	-2.94	D	-0.170	T	0.615	D	0.199	3.166	16.59	2.32	1.078	0.950	9.876	0.349	0.265150111276	.	0.000199681	9.526e-05	0.0002	0.0002	0	0	0.0001	0	0	5.82e-05	9	154602	rs536478616	8.467e-05	8.756e-05	8.212e-05	8.725e-05	0.0002	7.248e-05	6.792e-05	8.413e-05	7.828e-05	0.0001	4.613e-05	0	2.536e-05	1.965e-05	0.0002	9.921e-05	1.667e-05	2.344e-05	0.0001	0.0001	0.0001	8.054e-05	0.0002	7.085e-05	5.743e-05	0.0001	7.896e-05	0.0001	0	0	0	0	0	0	0.0002	0	0	0.046	0.40573	D	0.012	0.64786	D	0.696	0.41742	P	0.059	0.26602	B	.	.	.	.	0.999315	0.23185	N	2.145	0.60081	M	-2.94	0.91851	D	-2.83	0.59710	D	0.171	0.18376	-0.1698	0.78433	T	0.615	0.86376	D	9	0.3385796	0.50960	T	0.26515	0.89663	D	0.349	0.67049	.	.	0.953867566197	0.95337	0.5543791985990562	0.55364	0.417087851708	0.42336	0.244519323111	0.03213	T	0.934914	0.98929	D	-0.185044	0.22988	T	-0.248533	0.49961	T	0.137586485776006	0.16064	T	0.423058	0.11694	T	0.5932012	0.72324	0.51701236	0.72094	0.5932012	0.72325	0.51701236	0.72094	-9.204	0.69000	D	0.3194976588968587	0.41761	0.162	0.36416	B	.;.;.	.;.;.	3.245961	0.44328	21.9	0.99858929871358404	0.93729	0.89675	0.50292	D	AEFDBHCI	0.832403	0.75078	D	-0.0278177561598689	0.40599	2.413754	-0.0195497678558772	0.38832	2.293576	0.999824879852608	0.43622	0.706548	0.73137	0	0.643519	0.57511	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	4.47	2.32	0.27895	1.094000	0.30563	1.933000	0.29783	-0.107000	0.15377	0.995000	0.38783	1.000000	0.68203	0.775000	0.36711	0.0:0.1316:0.6011:0.2673	9.876	0.40369	970	0.06235	GHMP kinase, C-terminal domain;GHMP kinase, C-terminal domain;GHMP kinase, C-terminal domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1150.98	41	chr17	75758221	.	G	A	1150.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.936;DP=821;ExcessHet=0.0000;FS=3.178;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.35;ReadPosRankSum=-4.110e-01;SOR=1.179	GT:AD:DP:GQ:PL	0/1:33,42:75:99:1165,0,800	20	0	1	0
chr17	78202555	78202555	G	A	exonic	AFMID	.	nonsynonymous SNV	AFMID:NM_001010982:exon3:c.G211A:p.G71S	.	.	440	1078	3	1	0	5	0.00231374	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.28	T	0.939	P	0.387	B	0.006	N	0.999	N	1.525	L	.	.	-1.053	T	0.063	T	0.124	1.913	12.36	1.47	0.175	1.898	4.745	0.096	0.0116076046691	0.0002	.	0.0004	0	0.0002	0	0.0002	0.0004	0.0011	0.0010	0.0003881	60	154602	rs144866146	0.0004	0.0004	0.0004	0.0005	0.0026	0.0004	0.0004	0.0016	0.0013	2.987e-05	0.0002	0.0008	0	0.0003	0.0026	0.0004	0.0005	0.0012	0.0003	0.0003	0.0003	0.0003	0.0010	0.0002	0.0002	0.0004	0.0003	4.813e-05	0	0.0003	0.0014	0	0	0	0.0004	0	0.0010	0.275	0.15770	T	0.398	0.50514	T	0.899	0.52645	P	0.14	0.39956	B	0.005604	0.32654	N	0.326436	1	0.21260	N	2.24	0.63355	M	.	.	.	-1.47	0.35991	N	0.185	0.21319	-1.0531	0.13547	T	0.063	0.26279	T	9	0.035892487	0.01860	T	0.011608	0.29407	T	0.096	0.27654	.	.	0.285316908763	0.28143	0.5640927354680952	0.56336	0.586344282559	0.54236	0.283833146095	0.08032	T	0.080117	0.36288	T	-0.454157	0.01067	T	-0.485739	0.23840	T	0.0663336908877156	0.08126	T	0.761924	0.43550	T	0.049111012	0.08670	0.04001659	0.04230	0.049111012	0.08669	0.04001659	0.04229	-5.428	0.42176	T	.	.	0.093	0.47228	B	.;.;.;.	.;.;.;.	1.988751	0.25265	16.70	0.99137035648845961	0.53437	0.60296	0.31155	D	AEFBI	0.380182	0.46292	N	-0.556372519874784	0.20284	1.068194	-0.640015214047353	0.18470	0.9867571	0.015122759323441	0.12677	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	4.69	1.47	0.21832	2.040000	0.40824	0.750000	0.21229	-0.301000	0.06190	0.958000	0.33488	0.149000	0.23162	0.001000	0.02609	0.0828:0.1496:0.6125:0.155	4.745	0.12406	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	1	0	0	0	0.02381	1252.98	41	chr17	78202555	.	G	A	1252.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.46;DP=1055;ExcessHet=0.0000;FS=3.439;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.80;ReadPosRankSum=1.23;SOR=1.026	GT:AD:DP:GQ:PL	0/1:68,48:116:99:1267,0,1732	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	0/1:45,12,0:57:99:.:.:187,0,1141,320,1177,1496	1	6	9	4
chr17	80222676	80222676	A	C	exonic	SLC26A11	.	nonsynonymous SNV	SLC26A11:NM_001166348:exon3:c.A256C:p.M86L	.	.	424	1086	12	0	0	12	0.00549451	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.37	T	0.021	B	0.025	B	0.001	N	0.926	D	0.21	N	-2.6	D	-0.742	T	0.306	T	0.347	0.545	6.951	0.919	0.089	2.385	8.384	0.294	.	0.0012	0.0081869	0.0052	9.61e-05	0.0004	0.0162	0.0035	0.0022	0.0066	0.0186	0.0046507	719	154602	rs141472706	0.0028	0.0028	0.0023	0.0034	0.0201	0.0028	0.0027	0.0189	0.0184	0.0008	0.0009	0.0179	0.0201	0.0032	0.0068	0.0006	0.0041	0.0188	0.0025	0.0025	0.0021	0.0029	0.0197	0.0023	0.0022	0.0166	0.0155	0.0003	0	0.0006	0.0153	0.0197	0.0043	0.0034	0.0010	0.0028	0.0168	0.106	0.29688	T	0.296	0.35582	T	0.021	0.18474	B	0.025	0.20508	B	0.001116	0.40219	N	0.310553	0.926442	0.36834	D	0.16	0.08945	N	-2.6	0.89888	D	-2.06	0.47175	N	0.598	0.61849	-0.7417	0.58365	T	0.306	0.67639	T	10	0.012810349	0.00375	T	.	.	.	0.294	0.61388	0.467	0.53891	0.50466331119	0.50103	0.6310794538286547	0.63041	0.108274543893	0.12206	0.48755222559	0.37100	T	0.39481	0.86879	T	-0.297286	0.08918	T	-0.184212	0.56131	T	0.00872753039014649	0.00107	T	0.926807	0.74412	D	0.2601104	0.49066	0.2477093	0.50306	0.2601104	0.49066	0.2477093	0.50305	-7.554	0.57989	D	.	.	0.156	0.38409	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	1.802983	0.22914	15.81	0.6047288325853053	0.06472	0.96883	0.71458	D	AEFDGBI	0.518418	0.54413	D	-0.933929777757009	0.10055	0.4787471	-0.800900294125512	0.14474	0.7564247	0.0858371849169665	0.15993	0.695654	0.57023	0	0.633656	0.55848	0	0.723109	0.80598	0	0.635551	0.53088	0	.	.	4.37	0.919	0.18518	2.379000	0.43973	2.898000	0.35432	-0.126000	0.13398	1.000000	0.71638	1.000000	0.68203	0.881000	0.42162	0.5771:0.0:0.4229:0.0	8.384	0.31651	835	0.38313	SLC26A/SulP transporter domain|Sulphate anion transporter, conserved site;.;SLC26A/SulP transporter domain|Sulphate anion transporter, conserved site;SLC26A/SulP transporter domain|Sulphate anion transporter, conserved site;SLC26A/SulP transporter domain|Sulphate anion transporter, conserved site;SLC26A/SulP transporter domain|Sulphate anion transporter, conserved site;SLC26A/SulP transporter domain|Sulphate anion transporter, conserved site	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1284.98	42	chr17	80222676	.	A	C	1284.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.284;DP=804;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.85;ReadPosRankSum=-7.860e-01;SOR=0.710	GT:AD:DP:GQ:PL	0/1:51,49:100:99:1299,0,1349	20	0	1	0
chr17	81229164	81229164	G	A	exonic	TEPSIN	.	nonsynonymous SNV	TEPSIN:NM_144679:exon12:c.C1342T:p.R448W	.	.	433	1088	1	0	0	1	0.000459348	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08	T	0.0	B	0.0	B	0.613	N	1.000	N	-0.69	N	-1.0	T	-0.964	T	0.118	T	0.084	1.452	10.80	2.17	0.543	0.022	7.338	0.210	0.0771190183751	0.0003	0.000199681	0.0002	0.0008	0.0002	0	0	0	0	0.0006	0.0001294	20	154602	rs146426214	0.0001	0.0001	0.0001	0.0001	0.0007	9.812e-05	9.227e-05	0.0005	0.0004	0.0007	0.0002	0	5.04e-05	0	0	8.185e-05	8.284e-05	0.0004	0.0004	0.0004	0.0004	0.0005	0.0012	0.0004	0.0003	0.0009	0.0009	0.0012	0	0.0005	0	0	0	0	8.88e-05	0.0005	0.0004	0.1	0.30515	T	0.041	0.50514	D	0.0	0.02946	B	0.0	0.01387	B	0.613099	0.05712	N	1.289250	1	0.08975	N	0	0.06538	N	-1.0	0.76037	T	-0.89	0.24026	N	0.067	0.03956	-0.9642	0.38370	T	0.118	0.41407	T	10	0.021120876	0.00499	T	0.077119	0.72695	D	0.210	0.50028	.	.	0.361558571881	0.35766	0.1455966167102194	0.14482	0.0602571293545	0.06699	0.321780323982	0.13691	T	0.003832	0.03242	T	-0.472833	0.00816	T	-0.508316	0.21488	T	0.034662529671771	0.02750	T	0.649135	0.25986	T	0.09269806	0.21754	0.035770968	0.02892	0.09269806	0.21754	0.035770968	0.02892	-6.015	0.46406	T	.	.	0.086	0.10883	B	.;.	.;.	1.152219	0.15405	11.82	0.938771627681802	0.23892	0.08592	0.14500	N	AEFDBI	0.125031	0.24136	N	-1.11684028332886	0.06343	0.2917387	-1.10710127815511	0.07564	0.3683978	0.951482648084627	0.27960	0.722319	0.85440	0	0.698795	0.70079	0	0.723109	0.80598	0	0.635551	0.53088	0	.	.	3.14	2.17	0.26736	0.183000	0.16729	0.222000	0.16086	0.496000	0.22519	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.1314:0.0:0.8686:0.0	7.338	0.25795	.	.	.;.	.	.	.	.	.	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	1448.98	41	chr17	81229164	.	G	A	1448.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.15;DP=835;ExcessHet=0.0000;FS=2.871;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.28;ReadPosRankSum=1.53;SOR=1.046	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:35,54:89:99:1|0:81229156_T_C:1463,0,1241:81229156	20	0	1	0
chr17	81941384	81941384	C	T	exonic	MYADML2	.	nonsynonymous SNV	MYADML2:NM_001145113:exon3:c.G358A:p.A120T,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.23	T	0.026	B	0.027	B	0.561	N	1.000	N	0.895	L	1.78	T	-1.008	T	0.040	T	0.067	-0.137	3.329	2.89	0.618	0.778	3.655	0.014	.	.	0.00279553	0.0010	0.0165	0	0	0	0	0	0.0005	0.0002199	34	154602	rs374053976	0.0002	0.0002	0.0003	0.0002	0.0076	0.0002	0.0002	0.0068	0.0065	0.0076	0.0003	0	0	0	0.0004	1.948e-05	0.0006	0.0003	0.0021	0.0021	0.0022	0.0019	0.0072	0.0019	0.0018	0.0065	0.0062	0.0072	0	0.0005	0	0	0	0.0034	1.47e-05	0.0014	0.0004	0.388	0.10909	T	0.437	0.13441	T	0.026	0.19406	B	0.027	0.21085	B	0.560822	0.11338	N	0.726117	1	0.08975	N	0.805	0.20218	L	1.78	0.25678	T	-0.41	0.14000	N	0.025	0.00485	-1.0080	0.27541	T	0.040	0.17106	T	10	0.0029496849	0.00048	T	.	.	.	0.014	0.01968	.	.	0.0138822411134	0.00435	0.09415349905598182	0.09347	.	.	0.401527345181	0.25282	T	6.54E-4	0.00285	T	-0.653598	0.00069	T	-0.70748	0.05426	T	0.0017985427436338	0.00018	T	0.466753	0.13720	T	0.03222771	0.03207	0.045332033	0.06077	0.03222771	0.03207	0.045332033	0.06077	-5.067	0.37558	T	.	.	0.074	0.05017	B	.	.	0.743056	0.11128	7.769	0.94541788050414854	0.25049	0.09531	0.15266	N	AEFGBI	0.110571	0.21922	N	-0.974042256966789	0.09161	0.4324165	-0.964750511258788	0.10582	0.5339282	0.18886420207921	0.17973	0.608966	0.35542	0	0.547309	0.14657	0	0.769059	0.98459	0	0.542086	0.14980	0	.	.	4.95	2.89	0.32713	1.285000	0.32866	0.682000	0.20689	-0.175000	0.10903	0.001000	0.13787	0.001000	0.17328	0.012000	0.09680	0.2066:0.5629:0.0:0.2304	3.655	0.07757	.	.	Marvel domain|Marvel domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1291.98	35	chr17	81941384	.	C	T	1291.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.20;DP=1188;ExcessHet=0.0000;FS=1.800;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.57;ReadPosRankSum=0.119;SOR=0.479	GT:AD:DP:GQ:PL	0/1:40,43:83:99:1306,0,1030	20	0	1	0
chr17	82941466	82941466	C	T	exonic	TBCD	.	nonsynonymous SNV	TBCD:NM_005993:exon38:c.C3547T:p.P1183S,	Encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	D	1.0	D	.	.	1.000	D	3.07	M	1.27	T	-0.415	T	0.276	T	0.646	3.684	18.72	4.96	2.490	5.545	14.086	0.329	0.140029478088	.	.	4.965e-05	0	0	0	0	9.012e-05	0	0	1.94e-05	3	154602	rs761205495	1.036e-05	1.163e-05	9.605e-06	1.113e-05	0.0009	6.22e-06	4.93e-06	0.0003	0.0002	0	0	0	0	0	0.0009	4.519e-06	1.668e-05	4.78e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	.	.	.	.	0.999997	0.58761	D	3.125	0.87999	M	1.27	0.53088	T	-6.15	0.90178	D	0.716	0.71854	-0.4155	0.71535	T	0.276	0.64773	T	8	0.7846153	0.78140	D	0.140029	0.82249	D	0.329	0.65126	0.479	0.55823	0.831686575069	0.83008	0.773659305103135	0.77315	1.00406170843	0.74518	0.537654995918	0.44114	T	0.224918	0.58950	T	0.0971274	0.63980	D	-0.0982597	0.63532	T	0.954907511613834	0.64377	D	0.928407	0.74830	D	0.5667568	0.70882	0.5384087	0.73324	0.5667568	0.70883	0.5384087	0.73325	-4.712	0.33549	T	.	.	0.514	0.75630	A	.;.;.	.;.;.	4.238196	0.64232	24.7	0.99919801199171421	0.98654	0.96831	0.71175	D	AEFDBI	0.755796	0.69525	D	0.707138907630852	0.80100	7.220213	0.615279318897954	0.76047	6.419953	0.999813635626893	0.43459	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	4.96	4.96	0.65153	6.140000	0.71491	7.543000	0.60123	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.853000	0.40368	0.0:1.0:0.0:0.0	14.086	0.64485	.	.	.;.;.	.	.	.	.	.	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	1286.98	35	chr17	82941466	.	C	T	1286.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.379;DP=932;ExcessHet=0.0000;FS=4.734;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.92;ReadPosRankSum=0.897;SOR=1.157	GT:AD:DP:GQ:PL	0/1:58,50:108:99:1301,0,1506	20	0	1	0
chr18	5891375	5891386	GCGGCGGCGGCC	-	exonic	TMEM200C	.	nonframeshift deletion	TMEM200C:NM_001080209:exon3:c.678_689del:p.A227_A230del,	.	.	410	1039	39	3	31	76	0.0211964	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0140	0	0	0	0	0.0020	0.0294	0.0172	3.23e-05	5	154602	rs753396480	0.0064	0.0057	0.0055	0.0074	0.0577	0.0063	0.0062	0.0557	0.0549	0.0040	0.0115	0.0032	0.0109	0.0028	0.0093	0.0044	0.0069	0.0577	0.0048	0.0048	0.0042	0.0055	0.0319	0.0045	0.0044	0.0277	0.0262	0.0031	0	0.0034	0.0021	0.0078	0.0032	0.0106	0.0046	0.0039	0.0319	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	1120.07	35	chr18	5891374	.	GGCGGCGGCGGCC	G	1120.07	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.73;DP=747;ExcessHet=0.1072;FS=27.441;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=24.89;ReadPosRankSum=0.834;SOR=1.502	GT:AD:DP:GQ:PL	0/1:7,18:25:99:707,0,239	19	0	2	0
chr18	9887585	9887585	C	A	exonic	TXNDC2	.	nonsynonymous SNV	TXNDC2:NM_001098529:exon2:c.C1106A:p.P369H	.	.	435	1040	44	3	0	50	0.0234742	.	.	2818210	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	.	.	0.678	P	0.493	P	.	.	0.999	N	1.545	L	2.31	T	-1.083	T	0.038	T	0.245	2.489	14.28	3.07	1.253	0.465	9.931	0.038	0.00513223232431	0.0039	0.00319489	0.0044	0.0017	0.0042	0.0001	0.0002	0.0058	0.0033	0.0041	0.0042302	654	154602	rs141130127	0.0058	0.0058	0.0057	0.0060	0.0265	0.0057	0.0057	0.0230	0.0217	0.0022	0.0055	0.0197	2.672e-05	0.0005	0.0265	0.0061	0.0064	0.0043	0.0042	0.0042	0.0043	0.0041	0.0073	0.0039	0.0038	0.0062	0.0058	0.0015	0	0.0073	0.0216	0	0.0002	0.0136	0.0051	0.0081	0.0031	0.116	0.33923	T	0.001	0.83351	D	0.678	0.41346	P	0.493	0.47443	P	.	.	.	.	1	0.21650	N	2.495	0.72670	M	2.31	0.16794	T	-2.73	0.58085	D	0.173	0.19325	-1.0829	0.06795	T	0.038	0.16290	T	8	0.0044638515	0.00092	T	0.005132	0.13032	T	0.038	0.09825	.	.	0.411265580357	0.40742	0.04906126576242933	0.04849	0.352096120265	0.37045	0.203425049782	0.00563	T	0.111964	0.42786	T	-0.578933	0.00196	T	-0.600228	0.12792	T	0.0595624611979606	0.07099	T	0.550145	0.20478	T	0.06818249	0.14832	0.0785049	0.17588	0.06818249	0.14832	0.0785049	0.17588	-8.706	0.65830	D	.	.	0.150	0.33273	B	.;.;.	.;.;.	1.264036	0.16619	12.66	0.98898081538977922	0.48127	0.16144	0.19251	N	AEFBI	0.048095	0.08171	N	-0.424347102371954	0.24619	1.330544	-0.569536476959241	0.20289	1.09245	0.999978513951005	0.50053	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	3.94	3.07	0.34476	0.512000	0.22461	-2.538000	0.03633	-0.819000	0.02980	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.8969:0.0:0.1031	9.931	0.40690	885	0.28214	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	14253.11	176	chr18	9887585	.	C	A	14253.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.095;DP=4256;ExcessHet=0.1072;FS=1.105;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=59.92;MQRankSum=1.88;QD=10.74;ReadPosRankSum=2.37;SOR=0.599	GT:AD:DP:GQ:PL	0/1:380,287:667:99:6830,0,7938	19	0	2	0
chr18	14513679	14513679	T	G	exonic	POTEC	.	nonsynonymous SNV	POTEC:NM_001137671:exon10:c.A1516C:p.K506Q,	.	.	1001	337	183	1	0	185	0.215367	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.18	T	0.455	P	0.137	B	.	.	1.000	N	1.495	L	1.38	T	-1.046	T	0.060	T	0.15	-1.338	0.030	-0.976	-0.290	0.960	4.177	0.021	0.000961216431828	.	.	.	.	.	.	.	.	.	.	8.41e-05	13	154602	rs28606506	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.061	0.37118	T	0.267	0.22561	T	0.455	0.36245	P	0.137	0.33328	B	.	.	.	.	1	0.08975	N	2.35	0.67516	M	1.38	0.34050	T	0.11	0.05706	N	0.36	0.40164	-1.0459	0.15563	T	0.060	0.25273	T	9	0.10279083	0.18859	T	9.61E-4	0.00980	T	0.021	0.04004	0.44	0.49484	0.191931220699	0.18833	0.008575884169956268	0.00821	.	.	0.661467790604	0.61620	T	0.009409	0.08568	T	-0.232587	0.16309	T	-0.571872	0.15279	T	0.115140116944907	0.13948	T	0.559044	0.19511	T	0.0817621	0.18801	0.04864013	0.07268	0.0817621	0.18801	0.04864013	0.07268	-3.826	0.21193	T	.	.	0.126	0.26545	B	.	.	1.424813	0.18423	13.73	0.59010782571540543	0.06124	0.01638	0.05273	N	AEFI	0.034532	0.04293	N	-0.924811265974744	0.10264	0.4896489	-1.10812489953313	0.07544	0.3673648	1.29605380073252E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.53	-0.976	0.09761	1.060000	0.30139	.	.	0.332000	0.19570	0.003000	0.16062	0.000000	0.08366	0.028000	0.12845	0.0:0.4792:0.0:0.5208	4.177	0.09818	940	0.13648	.	.	.	.	.	.	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	6662.91	35	chr18	14513679	.	T	G	6662.91	.	AC=12;AF=0.286;AN=42;BaseQRankSum=4.54;DP=3722;ExcessHet=9.6308;FS=15.336;InbreedingCoeff=-0.4158;MLEAC=12;MLEAF=0.286;MQ=50.97;MQRankSum=-9.346e+00;QD=2.29;ReadPosRankSum=-3.404e+00;SOR=2.155	GT:AD:DP:GQ:PL	0/1:219,25:244:60:60,0,6012	9	0	12	0
chr18	31399465	31399465	G	A	exonic	DSG4	.	nonsynonymous SNV	DSG4:NM_001134453:exon9:c.G1199A:p.G400E	Hypotrichosis 6, Autosomal recessive	.	0	1518	3	1	0	5	0.0016442	.	.	879121	Hypotrichosis_6	MONDO:MONDO:0011932,MedGen:C1842839,OMIM:607903,Orphanet:55654	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.6	T	1.0	D	0.988	D	0.077	N	0.963	D	0.51	N	0.39	T	-0.880	T	0.202	T	0.849	2.529	14.42	5.33	2.649	4.029	10.358	0.204	0.0101279722829	7.7e-05	0.000199681	0.0002	0	8.643e-05	0	0	0.0002	0	0.0007	0.0001876	29	154602	rs201015162	0.0001	0.0001	0.0001	0.0002	0.0012	0.0001	0.0001	0.0006	0.0004	2.987e-05	6.708e-05	0	0	0	0.0012	0.0001	0.0002	0.0006	0.0001	0.0001	7.711e-05	0.0002	0.0002	7.574e-05	6.279e-05	9.05e-05	7.014e-05	4.813e-05	0	6.542e-05	0	0	0	0.0068	0.0002	0.0005	0.0002	0.509	0.11844	T	0.113	0.37589	T	0.987	0.90584	D	0.831	0.77976	P	0.077327	0.21110	N	0.246143	0.962794	0.38311	D	1.435	0.35949	L	0.39	0.58468	T	-0.96	0.25551	N	0.68	0.68690	-0.8803	0.49738	T	0.202	0.55919	T	10	0.10718262	0.19898	T	0.010128	0.26302	T	0.204	0.49076	.	.	0.790148357072	0.78820	0.2606765246525065	0.25981	0.254955273701	0.28073	0.457174688578	0.32923	T	0.102522	0.41032	T	-0.0908568	0.37934	T	-0.0403255	0.67679	D	0.105596394695775	0.12961	T	0.718628	0.34357	T	0.072237395	0.16053	0.112210795	0.27073	0.072237395	0.16052	0.112210795	0.27072	-5.952	0.45926	T	.	.	0.186	0.40213	B	.;.	.;.	3.147838	0.42600	21.6	0.99579234334613587	0.72921	0.74519	0.36456	D	AEFDGBCI	0.248329	0.36875	N	0.367298458220998	0.59658	4.147158	0.417736763520896	0.62668	4.486316	0.999999976078281	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	0.523000	0.22632	8.724000	0.78169	0.676000	0.76740	0.081000	0.22364	1.000000	0.68203	0.972000	0.54974	0.09:0.0:0.91:0.0	10.358	0.43158	718	0.55760	.;.	.	.	.	.	.	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	2617.98	33	chr18	31399465	.	G	A	2617.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.60;DP=922;ExcessHet=0.0000;FS=6.656;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.41;ReadPosRankSum=1.27;SOR=0.785	GT:AD:DP:GQ:PL	0/1:109,102:211:99:2632,0,2816	20	0	1	0
chr18	31541297	31541297	G	A	exonic	DSG2	.	nonsynonymous SNV	DSG2:NM_001943:exon13:c.G1984A:p.A662T,	Arrhythmogenic right ventricular dysplasia 10, Autosomal dominant;Cardiomyopathy, dilated, 1BB	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	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	0/1:29,31:60:99:331,0,356	1	0	20	0
chr18	36717857	36717862	TGCAGG	-	exonic	FHOD3	.	nonframeshift deletion	FHOD3:NM_001281739:exon15:c.1983_1988del:p.A662_G663del	.	.	420	1099	2	1	0	4	0.00181653	.	.	3227906	not_provided|Cardiomyopathy,_familial_hypertrophic,_28	MedGen:C3661900|MONDO:MONDO:0030317,MedGen:C5543616,OMIM:619402	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00539137	0.0020	9.741e-05	0.0002	0	0	9.267e-05	0.0012	0.0204	0.0001921	5	26028	rs573447742	0.0009	0.0009	0.0006	0.0013	0.0132	0.0009	0.0009	0.0126	0.0123	3.039e-05	9.473e-05	0	0	0	0.0027	0.0001	0.0010	0.0132	0.0006	0.0006	0.0004	0.0007	0.0145	0.0005	0.0004	0.0118	0.0108	4.819e-05	0	6.539e-05	0	0.0002	0	0	0.0001	0.0005	0.0145	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1671.94	36	chr18	36717856	.	ATGCAGG	A	1671.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.017;DP=826;ExcessHet=0.0000;FS=1.946;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=21.44;ReadPosRankSum=-1.023e+00;SOR=0.486	GT:AD:DP:GQ:PL	0/1:35,43:78:99:1686,0,1330	20	0	1	0
chr18	44950377	44950377	C	T	exonic	SETBP1	.	nonsynonymous SNV	SETBP1:NM_001379141:exon4:c.C1037T:p.T346I	Mental retardation, autosomal dominant 29, Autosomal dominant;Schinzel-Giedion midface retraction syndrome, Autosomal dominant	.	0	1521	1	0	0	1	0.000328623	.	.	347013	Intellectual_disability,_autosomal_dominant_29|Schinzel-Giedion_syndrome|not_specified|not_provided	MONDO:MONDO:0014482,MedGen:C4015141,OMIM:616078,Orphanet:436151|MONDO:MONDO:0010010,MedGen:C0265227,OMIM:269150,Orphanet:798|MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.12	T	0.0	B	0.002	B	0.004	N	1.000	N	0.895	L	1.16	T	-1.049	T	0.064	T	0.234	2.008	12.67	2.94	0.413	0.974	11.304	0.040	.	.	0.00219649	0.0015	0.0002	0.0003	0.0001	0	1.526e-05	0	0.0108	0.0013001	201	154602	rs557430935	0.0007	0.0007	0.0004	0.0009	0.0100	0.0006	0.0006	0.0094	0.0092	8.961e-05	0.0004	0	2.519e-05	0	0.0069	7.194e-06	0.0008	0.0100	0.0004	0.0004	0.0002	0.0006	0.0104	0.0003	0.0003	0.0081	0.0073	2.405e-05	0	6.533e-05	0	0.0002	0	0.0170	1.47e-05	0	0.0104	0.005	0.63226	D	0.01	0.65728	D	0.0	0.02946	B	0.002	0.06944	B	0.004210	0.33991	N	0.346294	0.85852	0.28391	N	0.895	0.22405	L	1.16	0.38073	T	-1.96	0.45404	N	0.264	0.29889	-1.0493	0.14593	T	0.064	0.26385	T	10	0.0035018325	0.00063	T	.	.	.	0.040	0.10527	0.152	0.05544	0.0675242888579	0.06100	0.21158559608184324	0.21074	0.277297608338	0.30204	0.466983437538	0.34266	T	0.306898	0.67907	T	-0.502456	0.00554	T	-0.485125	0.23903	T	0.0133366350139553	0.00240	T	0.766723	0.39447	T	0.12515348	0.29346	0.13859028	0.33093	0.12660554	0.29649	0.16695496	0.38541	-3.098	0.11273	T	0.2293711074967942	0.31028	0.086	0.10739	B	.;.	.;.	2.122290	0.27015	17.32	0.99706472006926183	0.81005	0.66354	0.33049	D	AEFBI	0.082967	0.16805	N	-0.309288286526486	0.28795	1.591219	-0.147514375056728	0.33503	1.91719	0.0303851120482534	0.13940	0.656854	0.48797	0	0.653731	0.59785	0	0.67347	0.61138	0	0.564101	0.26826	0	.	.	5.78	2.94	0.33188	0.624000	0.24156	1.093000	0.23998	0.599000	0.40250	0.677000	0.28411	0.988000	0.31051	0.993000	0.69303	0.0:0.6965:0.2388:0.0648	11.304	0.48559	902	0.24074	.;.	.	.	.	.	.	Likely benign	0	0	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	1732.98	94	chr18	44950377	.	C	T	1732.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.00;DP=1289;ExcessHet=0.0000;FS=8.960;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.75;ReadPosRankSum=-1.691e+00;SOR=0.583	GT:AD:DP:GQ:PL	0/1:49,61:110:99:1747,0,1383	20	0	1	0
chr18	49872198	49872198	G	A	exonic	MYO5B	.	nonsynonymous SNV	MYO5B:NM_001080467:exon27:c.C3572T:p.P1191L,	Microvillus inclusion disease, Autosomal recessive	.	0	1495	26	1	0	28	0.00927767	.	.	741392	not_provided|MYO5B-related_disorder	MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.61	T	0.022	B	0.003	B	0.016	N	1.000	D	0	N	2.35	T	-1.012	T	0.017	T	0.102	0.727	7.864	4.14	0.846	0.833	5.125	0.071	0.0195104407569	8.2e-05	0.000399361	0.0004	0	0.0002	0.0001	0	0.0001	0	0.0020	0.0002911	45	154602	rs373211672	0.0002	0.0002	0.0001	0.0003	0.0024	0.0002	0.0002	0.0021	0.0020	2.987e-05	0.0001	0	2.519e-05	0	0.0021	5.756e-05	0.0005	0.0024	0.0002	0.0002	0.0002	0.0001	0.0021	0.0001	8.719e-05	0.0011	0.0009	2.408e-05	0	0.0001	0	0.0004	0	0	0.0001	0.0005	0.0021	0.273	0.15876	T	0.563	0.36765	T	0.0	0.02946	B	0.001	0.04355	B	0.016246	0.28027	N	0.331370	0.971035	0.42152	D	0.205	0.09354	N	2.35	0.16217	T	-0.19	0.09965	N	0.119	0.10911	-1.0115	0.26447	T	0.017	0.07140	T	10	0.007855326	0.00178	T	0.01951	0.41891	T	0.071	0.20720	.	.	0.450539155747	0.44678	0.11143768966329352	0.11072	0.152725938462	0.17232	0.315746814013	0.12776	T	0.034122	0.23193	T	-0.637113	0.00087	T	-0.694421	0.06135	T	0.0182367125979742	0.00543	T	0.633837	0.24812	T	0.03646721	0.04490	0.033553034	0.02268	0.031174418	0.02908	0.042860616	0.05203	-3.587	0.17669	T	0.04223527136879617	0.00432	0.092	0.13597	B	.;.	.;.	1.771690	0.22528	15.66	0.76547081284395135	0.11512	0.71026	0.34837	D	AEFDBI	0.183691	0.31101	N	-0.639572925188101	0.17765	0.9168951	-0.466350532032628	0.23087	1.257237	0.969623042916039	0.29143	0.615465	0.37627	0	0.588066	0.40923	0	0.658983	0.55881	0	0.530356	0.10902	0	.	.	5.3	4.14	0.47821	1.218000	0.32071	2.074000	0.30458	-0.205000	0.08568	0.999000	0.42656	1.000000	0.68203	0.022000	0.11911	0.0:0.1574:0.1864:0.6561	5.125	0.14213	812	0.42537	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1493.98	39	chr18	49872198	.	G	A	1493.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.14;DP=897;ExcessHet=0.0000;FS=6.331;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.75;ReadPosRankSum=-4.000e-02;SOR=1.198	GT:AD:DP:GQ:PL	0/1:77,62:139:99:1508,0,1763	20	0	1	0
chr18	51177112	51177112	A	G	exonic	MEX3C	.	nonsynonymous SNV	MEX3C:NM_016626:exon2:c.T1219C:p.F407L,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08	T	0.997	D	0.97	D	0.000	D	1.000	D	2.14	M	1.12	T	-0.636	T	0.251	T	0.859	4.345	22.9	5.97	2.288	9.339	15.443	0.487	0.0253137631567	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	4.113e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.015	0.52492	D	0.075	0.47097	T	0.997	0.70673	D	0.97	0.72226	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.82	0.82106	M	1.12	0.38718	T	-5.52	0.85994	D	0.706	0.72477	-0.6365	0.63295	T	0.251	0.62073	T	10	0.7858712	0.78241	D	0.025314	0.48293	D	0.487	0.77528	0.449	0.50957	0.730059074749	0.72765	.	.	1.28565786633	0.82653	0.864578425884	0.91784	D	0.402891	0.75979	T	0.233233	0.77025	D	0.0972472	0.76725	D	0.982453107833862	0.74501	D	0.911209	0.68535	D	0.6268725	0.74131	0.5983521	0.76673	0.6268725	0.74132	0.5983521	0.76674	-9.398	0.70223	D	.	.	0.999	0.98504	P	.;.	.;.	5.110104	0.85422	28.6	0.99866937388056276	0.94457	0.99359	0.94992	D	AEFBI	0.900400	0.84589	D	0.849071139545032	0.89055	9.816957	0.851133728241547	0.93083	11.813	0.999999999990326	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.97	5.97	0.96935	9.325000	0.96006	11.284000	0.91844	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	1.0:0.0:0.0:0.0	15.443	0.74935	881	0.29269	.;.	.	.	.	.	.	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	0.15	998.11	35	chr18	51177112	.	A	G	998.11	.	AC=6;AF=0.150;AN=40;BaseQRankSum=-2.966e+00;DP=1568;ExcessHet=1.7912;FS=106.025;InbreedingCoeff=-0.1831;MLEAC=6;MLEAF=0.150;MQ=60.00;MQRankSum=0.00;QD=1.17;ReadPosRankSum=0.704;SOR=9.641	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:88,28:116:99:0|1:51177112_A_G:380,0,3418:51177112	14	0	6	1
chr18	51177115	51177115	C	T	exonic	MEX3C	.	nonsynonymous SNV	MEX3C:NM_016626:exon2:c.G1216A:p.D406N,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.996	D	0.000	D	1.000	D	2.14	M	0.8	T	-0.471	T	0.319	T	0.142	4.835	27.5	5.97	2.836	7.818	19.210	0.315	0.0371233782211	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1170539047	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.003	0.79402	D	1.0	0.90584	D	0.996	0.84481	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.81	0.81869	M	0.8	0.48769	T	-4.82	0.80851	D	0.665	0.72299	-0.4713	0.69679	T	0.319	0.68874	T	10	0.70792806	0.72858	D	0.037123	0.57424	D	0.315	0.63694	0.411	0.44723	0.803544974683	0.80170	.	.	1.72979365526	0.90724	0.81810438633	0.84738	D	0.45612	0.79501	T	-0.0908589	0.37934	T	-0.368289	0.37088	T	0.994576918359117	0.85946	D	0.979702	0.93682	D	0.72907937	0.79671	0.6503769	0.79545	0.72907937	0.79673	0.6503769	0.79545	-7.331	0.56415	T	.	.	0.945	0.86363	P	.;.	.;.	5.416801	0.90641	31	0.99916025942671016	0.98379	0.99021	0.90073	D	AEFBI	0.899214	0.84335	D	0.898058628751112	0.91662	10.99954	0.896553768688559	0.95422	13.60534	0.999999999999997	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.97	5.97	0.96935	7.905000	0.86479	7.718000	0.67175	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:1.0:0.0:0.0	19.210	0.93737	881	0.29269	.;.	.	.	.	.	.	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	1330.19	111	chr18	51177115	.	C	T,G	1330.19	.	AC=3,1;AF=0.075,0.025;AN=40;BaseQRankSum=-4.762e+00;DP=2221;ExcessHet=0.6776;FS=112.002;InbreedingCoeff=-0.1305;MLEAC=3,1;MLEAF=0.075,0.025;MQ=60.00;MQRankSum=0.00;QD=2.08;ReadPosRankSum=0.366;SOR=8.379	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:87,30,0:117:99:0|1:51177112_A_G:598,0,3410,859,3496,4355:51177112	16	0	3	1
chr18	51177115	51177115	C	G	exonic	MEX3C	.	nonsynonymous SNV	MEX3C:NM_016626:exon2:c.G1216C:p.D406H,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	1.0	D	0.998	D	0.000	D	1.000	D	2.14	M	0.75	T	-0.482	T	0.319	T	0.948	4.171	21.6	5.97	2.836	7.818	19.210	0.484	0.0331809939	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.001	0.83351	D	1.0	0.90584	D	0.998	0.88582	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.81	0.81869	M	0.75	0.50192	T	-6.75	0.92692	D	0.812	0.80767	-0.4817	0.69305	T	0.319	0.68822	T	10	0.7835201	0.78052	D	0.033181	0.54798	D	0.484	0.77335	0.424	0.46857	0.840214349164	0.83868	.	.	1.91785441749	0.92971	0.830285191536	0.86606	D	0.50707	0.82498	D	0.312169	0.83907	D	0.210633	0.83698	D	0.990333229866762	0.80552	D	0.973803	0.91457	D	0.8829649	0.89912	0.8398288	0.90827	0.8829649	0.89914	0.8398288	0.90828	-12.355	0.86537	D	.	.	0.996	0.96051	P	.;.	.;.	5.487575	0.91449	32	0.99644427409600334	0.76881	0.99289	0.94010	D	AEFBI	0.907600	0.86183	D	0.896449868337804	0.91583	10.95824	0.895090889778716	0.95356	13.54367	0.999999999999997	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.97	5.97	0.96935	7.905000	0.86479	7.718000	0.67175	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:1.0:0.0:0.0	19.210	0.93737	881	0.29269	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	1330.19	111	chr18	51177115	.	C	T,G	1330.19	.	AC=3,1;AF=0.075,0.025;AN=40;BaseQRankSum=-4.762e+00;DP=2221;ExcessHet=0.6776;FS=112.002;InbreedingCoeff=-0.1305;MLEAC=3,1;MLEAF=0.075,0.025;MQ=60.00;MQRankSum=0.00;QD=2.08;ReadPosRankSum=0.366;SOR=8.379	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:87,30,0:117:99:0|1:51177112_A_G:598,0,3410,859,3496,4355:51177112	16	0	3	1
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|1:50,12:62:2:0|1:65824683_C_G:2,0,1179:65824683	0	0	20	1
chr18	77105249	77105249	C	T	exonic	MBP	.	nonsynonymous SNV	MBP:NM_001025100:exon2:c.G13A:p.A5T	.	.	433	1082	7	0	0	7	0.00322432	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	T	0.203	B	0.016	B	0.458	N	0.629	N	0	N	.	.	-1.036	T	0.042	T	0.187	0.635	7.415	1.35	0.354	0.430	3.728	0.035	0.0015196127001	.	0.000199681	0.0008	9.614e-05	0	0	0	0.0009	0	0.0024	0.0007438	115	154602	rs149191307	0.0006	0.0006	0.0005	0.0006	0.0019	0.0005	0.0005	0.0017	0.0016	8.971e-05	8.956e-05	0	0	5.638e-05	0.0003	0.0005	0.0004	0.0019	0.0002	0.0002	0.0002	0.0002	0.0012	0.0001	0.0001	0.0005	0.0004	7.221e-05	0	0.0001	0	0.0002	0	0	0.0003	0	0.0012	0.171	0.22746	T	0.179	0.29540	T	0.203	0.29776	B	0.012	0.17743	B	0.458282	0.04854	N	1.499710	1	0.08975	N	0.345	0.11182	N	.	.	.	-0.35	0.12847	N	0.306	0.34767	-1.0356	0.18668	T	0.042	0.17994	T	9	0.0050321817	0.00108	T	0.00152	0.02369	T	0.035	0.08770	.	.	0.204265027416	0.20035	0.1272157560023877	0.12647	0.186899771732	0.21002	.	.	.	0.032275	0.22413	T	-0.505157	0.00535	T	-0.505663	0.21761	T	0.00719752620464792	0.00082	T	0.844016	0.53499	T	0.0884449	0.20631	0.050981503	0.08114	0.0884449	0.20630	0.050981503	0.08113	-3.87	0.22453	T	.	.	0.074	0.06433	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	0.861995	0.12343	8.883	0.56215778387440862	0.05505	0.04198	0.09705	N	AEFDGBIJ	0.045753	0.07517	N	-0.984961672231293	0.08925	0.4203373	-1.00932970394406	0.09579	0.4773883	0.999989285242115	0.51787	0.722319	0.85440	0	0.698795	0.70079	0	0.658983	0.55881	0	0.550183	0.17644	0	.	.	3.26	1.35	0.21078	0.290000	0.18731	-1.970000	0.04414	0.599000	0.40250	0.026000	0.20160	0.000000	0.08366	0.089000	0.17737	0.253:0.6132:0.0:0.1338	3.728	0.08009	895	0.25842	.;.;.;.;.;.;.	.	.	.	.	.	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	2176.11	33	chr18	77105249	.	C	T	2176.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.299;DP=889;ExcessHet=0.1072;FS=0.473;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=8.99;ReadPosRankSum=-4.150e-01;SOR=0.648	GT:AD:DP:GQ:PL	0/1:61,45:106:99:977,0,1443	19	0	2	0
chr19	501800	501800	-	CCACCTCCC	exonic	MADCAM1	.	nonframeshift insertion	MADCAM1:NM_130760:exon4:c.799_800insCCACCTCCC:p.K267delinsTTSQ,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1419142385	4.475e-05	8.624e-05	3.515e-05	5.455e-05	6.203e-05	3.575e-05	3.249e-05	3.428e-05	3.031e-05	0	2.688e-05	0	0	8.127e-05	0	4.427e-05	8.612e-05	6.203e-05	0.0002	0.0004	0.0002	0.0001	0.0002	0.0001	8.815e-05	0.0001	0.0001	4.917e-05	0	0.0001	0.0003	0	9.518e-05	0	0.0002	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1040.94	94	chr19	501800	.	A	ACCACCTCCC	1040.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.215;DP=1655;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.71;MQRankSum=-1.874e+00;QD=15.54;ReadPosRankSum=1.41;SOR=0.818	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:39,28:67:99:0|1:501786_C_A:1055,0,1499:501786	20	0	1	0
chr19	501802	501802	-	GAGCCTCCCGACACC	exonic	MADCAM1	.	nonframeshift insertion	MADCAM1:NM_130760:exon4:c.801_802insGAGCCTCCCGACACC:p.K267_T268insEPPDT,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1467217503	4.779e-05	7.885e-05	3.735e-05	5.872e-05	4.589e-05	3.758e-05	3.372e-05	3.457e-05	3.072e-05	0	4.086e-05	0	0	0.0002	0	4.589e-05	0.0001	3.804e-05	0.0009	0.0023	0.0010	0.0007	0.0019	0.0006	0.0005	0.0007	0.0005	0.0004	0	0.0005	0.0019	0	0.0009	0	0.0012	0	0.0019	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0625	1048.35	92	chr19	501802	.	G	GGAGCCTCCCGACACC	1048.35	.	AC=1;AF=0.063;AN=16;BaseQRankSum=0.187;DP=1521;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.2174;MLEAC=2;MLEAF=0.125;MQ=59.71;MQRankSum=-1.874e+00;QD=15.65;ReadPosRankSum=1.30;SOR=0.818	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:39,28:67:99:0|1:501786_C_A:1055,0,1499:501786	7	0	1	13
chr19	3543599	3543599	G	A	exonic	C19orf71	.	nonsynonymous SNV	C19orf71:NM_001135580:exon3:c.G367A:p.V123I,	.	.	427	1066	27	2	0	31	0.0143319	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.003	B	0.002	B	0.694	N	1.000	N	-1.1	N	1.75	T	-1.015	T	0.011	T	0.071	-1.971	0.007	-8.83	-2.771	-2.119	9.454	0.004	.	0.0044	0.00499201	0.0138	0	0.0071	0	0	0.0092	0.0123	0.0230	0.0021604	334	154602	rs201749907	0.0046	0.0044	0.0040	0.0051	0.0188	0.0045	0.0044	0.0180	0.0177	0.0007	0.0020	0.0238	0	0.0006	0.0126	0.0035	0.0050	0.0188	0.0039	0.0039	0.0039	0.0039	0.0161	0.0036	0.0035	0.0132	0.0122	0.0008	0	0.0015	0.0280	0.0002	0.0003	0.0034	0.0051	0.0048	0.0161	1.0	0.00964	T	1.0	0.01155	T	0.003	0.11197	B	0.002	0.06944	B	0.693564	0.06160	N	1.202900	1	0.08975	N	-1.01	0.01154	N	1.75	0.26152	T	0.03	0.06612	N	0.066	0.03841	-1.0149	0.25368	T	0.011	0.04042	T	10	0.001954198	0.00027	T	.	.	.	0.004	0.00165	.	.	0.0138822411134	0.00435	0.020375539965704063	0.01990	.	.	.	.	.	7.72E-4	0.00369	T	-0.706015	0.00034	T	-0.771981	0.02704	T	0.00593379321502835	0.00065	T	0.533947	0.17813	T	0.019139629	0.00439	0.020590123	0.00144	0.019139629	0.00439	0.020590123	0.00144	-3.916	0.22542	T	.	.	0.079	0.07130	B	.	.	-1.276562	0.00458	0.010	0.90003719366668511	0.19294	0.01947	0.05921	N	AEFDBCI	0.028970	0.02648	N	-2.19496529212612	0.00079	0.003372802	-2.22034743869049	0.00101	0.00442548	0.999999794511618	0.74766	0.660377	0.49826	0	0.694456	0.67091	0	0.696353	0.63694	0	0.592323	0.36904	0	.	.	4.41	-8.83	0.00696	-2.207000	0.01314	-2.702000	0.03451	-0.282000	0.06404	0.000000	0.06391	0.000000	0.08366	0.036000	0.13842	0.1833:0.3018:0.5149:0.0	9.454	0.37910	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	0.02381	683.98	39	chr19	3543599	.	G	A	683.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.03;DP=863;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.12;ReadPosRankSum=0.789;SOR=0.600	GT:AD:DP:GQ:PL	0/1:46,29:75:99:698,0,1057	20	0	1	0
chr19	4511563	4511563	C	0	exonic	PLIN4	.	.	.	.	.	463	531	326	1	201	529	0.235971	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2143	17845.03	225	chr19	4511563	.	C	G,*	17845.03	.	AC=5,1;AF=0.179,0.036;AN=28;BaseQRankSum=2.12;DP=9752;ExcessHet=2.1469;FS=0.000;InbreedingCoeff=-0.1556;MLEAC=7,1;MLEAF=0.250,0.036;MQ=59.57;MQRankSum=-4.184e+00;QD=4.80;ReadPosRankSum=-5.230e+00;SOR=0.700	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:371,162,0:533:99:0|1:4511563_C_G:5492,0,15057,6608,15543,22152:4511563	8	0	5	7
chr19	4511566	4511566	A	0	exonic	PLIN4	.	.	.	.	.	415	583	322	1	201	525	0.21745	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2727	16971.48	491	chr19	4511566	.	A	G,*	16971.48	.	AC=5,1;AF=0.227,0.045;AN=22;BaseQRankSum=-9.560e-01;DP=10566;ExcessHet=2.1469;FS=0.000;InbreedingCoeff=-0.2408;MLEAC=8,2;MLEAF=0.364,0.091;MQ=59.53;MQRankSum=-3.775e+00;QD=4.50;ReadPosRankSum=-5.408e+00;SOR=0.715	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:381,158,0:539:99:0|1:4511563_C_G:5329,0,15525,6476,15998,22474:4511563	5	0	5	10
chr19	4511568	4511568	C	0	exonic	PLIN4	.	.	.	.	.	436	567	317	1	201	520	0.219546	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2727	16047.48	490	chr19	4511568	.	C	T,*	16047.48	.	AC=5,1;AF=0.227,0.045;AN=22;BaseQRankSum=-4.580e-01;DP=10596;ExcessHet=2.1469;FS=0.000;InbreedingCoeff=-0.2408;MLEAC=8,2;MLEAF=0.364,0.091;MQ=59.50;MQRankSum=-3.556e+00;QD=4.25;ReadPosRankSum=-5.809e+00;SOR=0.715	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:384,149,0:533:99:0|1:4511563_C_G:5060,0,15677,6216,16124,22340:4511563	5	0	5	10
chr19	4511569	4511569	A	0	exonic	PLIN4	.	.	.	.	.	438	565	317	1	201	520	0.220152	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2727	15602.48	490	chr19	4511569	.	A	G,*	15602.48	.	AC=5,1;AF=0.227,0.045;AN=22;BaseQRankSum=5.73;DP=10604;ExcessHet=2.1469;FS=0.000;InbreedingCoeff=-0.2408;MLEAC=8,2;MLEAF=0.364,0.091;MQ=59.48;MQRankSum=-3.635e+00;QD=4.12;ReadPosRankSum=-5.967e+00;SOR=0.735	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:391,146,0:537:99:0|1:4511563_C_G:4913,0,15980,6090,16418,22508:4511563	5	0	5	10
chr19	4511586	4511586	A	0	exonic	PLIN4	.	.	.	.	.	414	637	269	1	201	472	0.175405	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2727	8809.48	466	chr19	4511586	.	A	G,*	8809.48	.	AC=5,1;AF=0.227,0.045;AN=22;BaseQRankSum=3.88;DP=10439;ExcessHet=2.1469;FS=0.000;InbreedingCoeff=-0.2408;MLEAC=8,2;MLEAF=0.364,0.091;MQ=59.07;MQRankSum=-2.351e+00;QD=2.30;ReadPosRankSum=-8.743e+00;SOR=0.728	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:418,105,0:523:99:0|1:4511563_C_G:3151,0,17212,4409,17528,21937:4511563	5	0	5	10
chr19	4511587	4511587	C	0	exonic	PLIN4	.	.	.	.	.	408	646	266	1	201	469	0.171795	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2727	8200.48	466	chr19	4511587	.	C	G,*	8200.48	.	AC=5,1;AF=0.227,0.045;AN=22;BaseQRankSum=2.38;DP=10432;ExcessHet=2.1469;FS=0.000;InbreedingCoeff=-0.2408;MLEAC=8,2;MLEAF=0.364,0.091;MQ=59.03;MQRankSum=-2.455e+00;QD=2.14;ReadPosRankSum=-8.658e+00;SOR=0.726	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:417,101,0:518:99:0|1:4511563_C_G:2986,0,17182,4241,17486,21727:4511563	5	0	5	10
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	1/1:0,402,0:402:99:.:.:13266,1205,0,13944,1219,15813	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|1:0,595,0:595:99:1|1:4511713_T_C:24329,1788,0,20167,1790,19762:4511713	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	2|2:0,0,587:587:99:1|1:4511713_T_C:24379,20094,19472,1909,1828,0:4511713	0	0	0	8
chr19	5151501	5151501	C	T	exonic	KDM4B	.	nonsynonymous SNV	KDM4B:NM_015015:exon23:c.C3281T:p.A1094V,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.141	B	0.039	B	0.063	N	0.675	N	1.39	L	2.21	T	-1.047	T	0.042	T	0.108	3.390	17.44	1.18	-0.192	1.069	10.623	0.081	0.052100809661	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	9.577e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.078	0.36113	T	0.0	0.92824	D	0.002	0.09854	B	0.002	0.06944	B	0.062804	0.22070	N	0.425170	0.999995	0.08975	N	.	.	.	2.19	0.18724	T	-0.78	0.21644	N	0.075	0.05799	-1.0472	0.15188	T	0.042	0.17952	T	10	0.044999927	0.03520	T	0.052101	0.64935	D	0.081	0.23632	0.157	0.06070	0.179529687257	0.17594	0.21524051125461202	0.21440	0.397126455906	0.40809	0.505750417709	0.39629	T	0.010592	0.12164	T	-0.294219	0.09216	T	-0.660401	0.08239	T	0.224709063768387	0.21696	T	0.647735	0.25884	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.090	0.12560	B	.;.;.	.;.;.	2.277033	0.29111	18.02	0.98992084234600819	0.49963	0.51593	0.28932	D	AEFDBCI	0.081401	0.16472	N	-1.00767451624726	0.08444	0.3959214	-0.927493385035177	0.11446	0.5831812	0.400330800043199	0.20125	0.634777	0.41761	0	0.643519	0.57511	0	0.26897	0.05253	2	0.699875	0.68795	0	.	.	4.66	1.18	0.20058	0.751000	0.26013	0.203000	0.15874	-0.943000	0.02073	0.917000	0.31872	0.006000	0.19429	0.823000	0.38780	0.0:0.675:0.2504:0.0746	10.623	0.44682	969	0.06854	.;.;.	.	.	.	.	.	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	648.98	38	chr19	5151501	.	C	T	648.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.310e-01;DP=775;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.98;ReadPosRankSum=0.731;SOR=0.641	GT:AD:DP:GQ:PL	0/1:35,30:65:99:663,0,821	20	0	1	0
chr19	5222821	5222821	C	T	exonic	PTPRS	.	nonsynonymous SNV	PTPRS:NM_130854:exon14:c.G2905A:p.A969T	.	.	.	.	.	.	.	.	.	.	.	2378339	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.65	T	0.999	D	0.982	D	0.000	U	1.000	D	-0.29	N	0.6	T	-1.018	T	0.126	T	0.377	0.517	6.799	3.47	2.257	0.873	10.729	0.100	0.716447939187	8.2e-05	.	9.792e-05	0.0003	9.393e-05	0	0	0.0001	0	0	9.06e-05	14	154602	rs201357930	6.234e-05	6.498e-05	5.654e-05	6.82e-05	6.941e-05	5.159e-05	4.775e-05	5.636e-05	5.207e-05	6.04e-05	6.739e-05	3.855e-05	5.069e-05	0	0	6.941e-05	5.002e-05	2.327e-05	3.942e-05	3.94e-05	6.422e-05	1.345e-05	7.352e-05	1.715e-05	1.129e-05	2.847e-05	1.859e-05	0	0	0	0.0003	0	0	0	7.352e-05	0	0	.	.	.	0.838	0.03631	T	0.072	0.77913	B	0.056	0.75477	B	0.000244	0.46924	U	0.085994	0.977019	0.81001	D	0.275	0.09989	N	0.6	0.53731	T	.	.	.	0.18	0.22870	-1.0175	0.24528	T	0.126	0.43132	T	10	0.20342046	0.36497	T	0.716448	0.97701	D	.	.	.	.	0.520477512065	0.51690	0.4058448759619515	0.40500	.	.	0.815482795238	0.84334	D	0.096531	0.39844	T	-0.26502	0.12319	T	-0.363414	0.37658	T	0.0709845793439447	0.08788	T	0.845515	0.52437	T	0.054389875	0.10428	0.07116846	0.15208	0.054389875	0.10427	0.07116846	0.15208	-6.334	0.50694	T	.	.	0.077	0.06387	B	.;.	.;.	3.732958	0.53412	23.4	0.92733045489264421	0.22234	0.92538	0.55946	D	AEFDBI	0.386580	0.46689	N	-0.289104101829205	0.29568	1.640866	-0.218161879856891	0.30885	1.742884	0.43422764044242	0.20399	0.695654	0.57023	0	0.626922	0.53725	0	0.723109	0.80598	0	0.699875	0.68795	0	.	.	3.47	3.47	0.38831	1.754000	0.37998	4.066000	0.41626	0.575000	0.29119	1.000000	0.71638	1.000000	0.68203	0.020000	0.11549	0.0:1.0:0.0:0.0	10.729	0.45285	976	0.04745	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	1524.98	35	chr19	5222821	.	C	T	1524.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.310e-01;DP=775;ExcessHet=0.0000;FS=2.715;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.56;ReadPosRankSum=2.17;SOR=0.455	GT:AD:DP:GQ:PL	0/1:38,60:98:99:1539,0,866	20	0	1	0
chr19	7529167	7529167	G	A	exonic	MCOLN1	.	nonsynonymous SNV	MCOLN1:NM_020533:exon10:c.G1201A:p.V401M,	Mucolipidosis IV, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07	T	0.997	D	0.923	D	0.000	D	1.000	D	2.105	M	-0.61	T	-0.049	T	0.483	T	0.942	4.669	25.7	5.27	2.459	9.473	16.364	0.716	0.0577670537381	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1466895072	2.737e-06	2.736e-06	0	5.502e-06	3.478e-05	6.4e-07	4.3e-07	9.24e-06	4.56e-06	0	0	0	0	0	0	8.993e-07	0	3.478e-05	6.571e-06	6.567e-06	1.285e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.0	0.91255	D	0.043	0.49942	D	0.997	0.70673	D	0.923	0.65830	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.71	0.79292	M	-0.61	0.71779	T	-2.87	0.60348	D	0.954	0.96302	-0.0489	0.81230	T	0.483	0.80250	T	10	0.8850372	0.87828	D	0.057767	0.67081	D	0.716	0.89922	0.611	0.74418	0.892998195933	0.89194	0.8151512942307381	0.81471	2.30488031714	0.96506	0.812133073807	0.83819	D	0.685868	0.90821	D	0.383949	0.88962	D	0.31374	0.88822	D	0.984367072582245	0.75698	D	0.992842	0.97650	D	0.83985394	0.86598	0.6496184	0.79503	0.83985394	0.86599	0.6496184	0.79504	-12.125	0.85455	D	0.5498131458465736	0.61853	0.487	0.63988	A	.	.	5.591373	0.92382	32	0.99904940364020245	0.97576	0.99146	0.91905	D	AEFBI	0.948763	0.96072	D	0.784247957751809	0.85109	8.479573	0.782463073655026	0.88546	9.623752	0.999999999604555	0.74766	0.706548	0.73137	0	0.643519	0.57511	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	5.27	5.27	0.73797	9.599000	0.97470	9.839000	0.81912	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:0.0:1.0:0.0	16.364	0.83140	846	0.36215	Polycystin cation channel, PKD1/PKD2	.	.	.	.	.	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	3443.08	45	chr19	7529167	.	G	A	3443.08	.	AC=2;AF=0.048;AN=42;DP=908;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;QD=33.11;SOR=1.374	GT:AD:DP:GQ:PL	1/1:0,104:104:99:3471,312,0	20	1	0	0
chr19	7871678	7871678	G	C	exonic	PRR36	.	nonsynonymous SNV	PRR36:NM_001190467:exon5:c.C1566G:p.D522E,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.61	T	.	.	.	.	.	.	0.996	N	0	N	.	.	-0.998	T	0.035	T	0.085	0.963	8.927	0.534	0.295	1.986	5.982	0.014	0.00631720991641	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0.0061	0.0002	0.0002	0.0004	0.0002	0.0002	0.0002	0.0002	0.0003	0	8.002e-05	2.812e-05	0	0.0004	0.0003	0.0003	6.372e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.196	0.27943	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.125	0.11769	-0.9982	0.30423	T	0.035	0.15291	T	6	0.06605524	0.09003	T	0.006317	0.16610	T	.	.	.	.	0.0401082797425	0.02173	0.04024571050867364	0.03970	.	.	0.37946036458	0.22180	T	0.013956	0.11972	T	-0.255113	0.13478	T	-0.604228	0.12458	T	0.0270435322631717	0.01550	T	0.30037	0.05618	T	0.023964053	0.01182	0.025669742	0.00620	0.023964053	0.01182	0.025669742	0.00619	-5.088	0.37780	T	.	.	0.367	0.57658	A	.	.	1.113604	0.14988	11.50	0.53643305433940836	0.04980	0.10200	0.15772	N	ALL	.	.	.	-0.794969245513708	0.13441	0.6621338	-0.886495899590302	0.12413	0.638379	0.999999999661444	0.74766	0.730579	0.87903	0	0.607795	0.50457	0	0.749866	0.98131	0	0.603991	0.37454	0	.	.	4.05	0.534	0.16320	0.450000	0.21475	0.712000	0.20944	0.606000	0.46413	0.025000	0.20085	0.000000	0.08366	0.014000	0.10232	0.353:0.0:0.647:0.0	5.982	0.18645	917	0.20147	.	.	.	.	.	.	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	0.25	769.34	89	chr19	7871678	.	G	C	769.34	.	AC=10;AF=0.250;AN=40;BaseQRankSum=-3.686e+00;DP=1708;ExcessHet=6.1002;FS=184.238;InbreedingCoeff=-0.3275;MLEAC=10;MLEAF=0.250;MQ=60.00;MQRankSum=0.00;QD=0.97;ReadPosRankSum=0.814;SOR=10.419	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:67,20:87:46:.:.:46,0,1718	10	0	10	1
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|1:392,66:458:99:0|1:8888803_G_A:1450,0,15613:8888803	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	0/2:259,66,85,28:438:99:.:.:2281,295,10995,0,8225,10599,1977,10108,9700,13306	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|1:279,59,55:393:99:0|1:8888826_T_*:1635,0,11550,191,9429,11741:8888826	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|1:221,17:238:49:0|1:8900009_C_T:49,0,9188:8900009	8	0	13	0
chr19	8957439	8957439	G	A	exonic	MUC16	.	nonsynonymous SNV	MUC16:NM_024690:exon3:c.C19331T:p.T6444I,	.	.	432	1079	11	0	0	11	0.00507146	.	.	2815416	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0	D	0.842	P	0.201	B	.	.	.	.	1.59	L	4.28	T	-0.974	T	0.008	T	0.097	0.039	4.214	1.07	0.469	-0.229	4.928	0.021	0.000696921307517	0.0011	0.00139776	0.0014	0	0.0036	0	0.0002	0.0013	0.0056	0.0025	0.0013325	206	154602	rs61747870	0.0009	0.0009	0.0008	0.0010	0.0127	0.0008	0.0008	0.0103	0.0095	0.0005	0.0021	0.0057	0	5.618e-05	0.0127	0.0006	0.0016	0.0029	0.0009	0.0009	0.0008	0.0010	0.0039	0.0008	0.0007	0.0026	0.0021	0.0002	0	0.0018	0.0066	0.0002	0	0.0136	0.0008	0.0005	0.0039	0.004	0.65419	D	0.008	0.67890	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	4.28	0.02487	T	-0.19	0.09965	N	0.066	0.03841	-0.9740	0.36344	T	0.008	0.02926	T	8	0.0061721206	0.00139	T	6.97E-4	0.00435	T	0.021	0.04004	.	.	0.112648838833	0.10856	0.08462932768184768	0.08396	.	.	0.232946559787	0.02193	T	.	.	.	-0.661396	0.00062	T	-0.728063	0.04415	T	0.0342330308824738	0.02677	T	0.219378	0.02807	T	.	.	.	.	.	.	.	.	-5.849	0.44999	T	.	.	0.173	0.37951	B	.	.	-0.084997	0.03731	0.769	0.31097120203898443	0.01735	0.00794	0.03241	N	AEFGBI	0.016610	0.00384	N	-0.666549632654946	0.16979	0.8698771	-0.865539553940248	0.12914	0.6670829	7.52366214444716E-4	0.07758	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	2.15	1.07	0.19399	-0.304000	0.08238	.	.	0.507000	0.23093	0.000000	0.06391	0.000000	0.08366	0.005000	0.06747	0.186:0.0:0.814:0.0	4.928	0.13253	911	0.21964	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.04762	5625.08	96	chr19	8957439	.	G	A	5625.08	.	AC=2;AF=0.048;AN=42;DP=2154;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;QD=34.30;SOR=0.743	GT:AD:DP:GQ:PL	1/1:0,164:164:99:5653,493,0	20	1	0	0
chr19	9102918	9102918	C	T	exonic	OR7G2	.	nonsynonymous SNV	OR7G2:NM_001005193:exon1:c.G389A:p.G130D,	.	.	427	1093	2	0	0	2	0.000914077	.	.	2373333	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.22	T	0.399	B	0.194	B	0.541	U	1.000	N	2.07	M	2.95	T	-1.007	T	0.025	T	0.355	2.073	12.89	-6.54	-1.232	-0.591	1.438	0.069	0.00119363684886	0.0003	0.000199681	0.0002	9.61e-05	0	0	0	0.0002	0	0.0002	0.0001488	23	154602	rs143603997	0.0001	0.0001	9.256e-05	0.0001	0.0004	9.603e-05	9.082e-05	0.0003	0.0002	0	0.0001	0	0	0	0.0003	9.712e-05	0.0002	0.0004	0.0001	0.0001	0.0001	0.0001	0.0004	8.661e-05	7.254e-05	0.0001	8.878e-05	4.811e-05	0	0.0001	0	0	0	0	0.0002	0.0005	0.0004	0.085	0.32769	T	0.154	0.32040	T	0.399	0.34817	B	0.194	0.36557	B	0.540597	0.05311	U	1.402570	1	0.08975	N	0.62	0.15745	N	2.95	0.09635	T	-3.06	0.63090	D	0.21	0.23380	-1.0073	0.27758	T	0.025	0.10509	T	10	0.06258497	0.08023	T	0.001194	0.01533	T	0.069	0.20116	.	.	0.0401082797425	0.02173	0.45670846717286967	0.45588	0.150424504173	0.16965	0.221891507506	0.01422	T	0.009291	0.08464	T	-0.461807	0.00958	T	-0.600807	0.12743	T	0.0591861762792877	0.07039	T	0.726327	0.34071	T	0.092242785	0.21635	0.12966867	0.31173	0.092242785	0.21635	0.12966867	0.31172	-6.062	0.46795	T	.	.	0.247	0.53032	B	.;.	.;.	1.446241	0.18663	13.86	0.96337121475315024	0.29469	0.05627	0.11536	N	AEFBI	0.057002	0.10582	N	-1.00414085420751	0.08517	0.399658	-1.2428398257598	0.05238	0.2490952	6.83450347106229E-4	0.07622	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	3.27	-6.54	0.01692	-0.412000	0.07197	.	.	0.503000	0.22915	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.2647:0.2508:0.3194:0.1651	1.438	0.02206	970	0.06235	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	1	0	0	0	0.04762	5942.08	138	chr19	9102918	.	C	T	5942.08	.	AC=2;AF=0.048;AN=42;DP=1160;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;QD=32.65;SOR=0.857	GT:AD:DP:GQ:PL	1/1:0,182:182:99:5970,546,0	20	1	0	0
chr19	10350910	10350910	T	C	exonic	TYK2	.	nonsynonymous SNV	TYK2:NM_001385197:exon24:c.A3377G:p.E1126G	Immunodeficiency 35, Autosomal recessive	.	1	1402	108	11	0	130	0.0443081	.	.	468200	not_specified|Immunodeficiency_35	MedGen:CN169374|MONDO:MONDO:0012682,MedGen:C1969086,OMIM:611521,Orphanet:331226	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.23	T	0.0	B	0.006	B	0.540	N	1.000	N	0.565	N	-1.71	D	-1.009	T	0.090	T	0.297	1.773	11.89	5.68	2.161	2.310	13.877	0.031	.	0.0026	0.00658946	0.0067	0.0008	0.0019	0.0001	0.0017	0.0038	0.0088	0.0311	0.0060025	928	154602	rs55886939	0.0039	0.0039	0.0030	0.0049	0.0306	0.0039	0.0038	0.0296	0.0292	0.0004	0.0016	0.0039	2.519e-05	0.0019	0.0248	0.0022	0.0052	0.0306	0.0032	0.0032	0.0029	0.0036	0.0294	0.0030	0.0029	0.0255	0.0240	0.0005	0	0.0036	0.0043	0.0002	0.0021	0.0272	0.0032	0.0047	0.0294	0.02	0.49613	D	0.213	0.26714	T	0.0	0.02946	B	0.006	0.12133	B	0.540135	0.11545	N	0.744173	0.999403	0.21520	N	0.65	0.16133	N	-1.71	0.83157	D	-1.88	0.43906	N	0.15	0.16028	-1.0092	0.27167	T	0.090	0.34683	T	10	0.0062526166	0.00141	T	.	.	.	0.224	0.52174	.	.	0.832625569796	0.83103	0.2781677214498707	0.27729	0.262748586861	0.28834	0.308513373137	0.11682	T	0.356059	0.72297	T	-0.352291	0.04585	T	-0.255821	0.49241	T	0.020755482438709	0.00775	T	0.19768	0.06085	T	0.27860284	0.50913	0.22806673	0.47836	0.33965775	0.56252	0.24295966	0.49728	-4.006	0.23893	T	.	.	0.081	0.08320	B	.;.;.	.;.;.	2.704222	0.35333	19.87	0.99295829267216951	0.58433	0.92413	0.55654	D	AEFBHI	0.307691	0.41449	N	0.0419748116485306	0.43773	2.663794	0.128050775842209	0.45991	2.852466	0.0473693968275403	0.14727	0.706548	0.73137	0	0.702456	0.74545	0	0.80507	0.99327	0	0.714379	0.83352	0	.	.	5.68	5.68	0.88021	1.646000	0.36865	4.984000	0.46482	0.588000	0.31329	0.974000	0.34632	1.000000	0.68203	0.388000	0.26514	0.0:0.0:0.0:1.0	13.877	0.63158	773	0.48803	Serine-threonine/tyrosine-protein kinase, catalytic domain|Protein kinase domain|Tyrosine-protein kinase, catalytic domain;Serine-threonine/tyrosine-protein kinase, catalytic domain|Protein kinase domain|Tyrosine-protein kinase, catalytic domain;Serine-threonine/tyrosine-protein kinase, catalytic domain|Protein kinase domain|Tyrosine-protein kinase, catalytic domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09524	9296.9	33	chr19	10350910	.	T	C	9296.9	.	AC=4;AF=0.095;AN=42;BaseQRankSum=-5.500e-02;DP=1162;ExcessHet=0.0082;FS=0.543;InbreedingCoeff=0.4474;MLEAC=4;MLEAF=0.095;MQ=60.00;MQRankSum=0.00;QD=18.41;ReadPosRankSum=0.327;SOR=0.647	GT:AD:DP:GQ:PL	1/1:0,172:172:99:5412,515,0	18	1	2	0
chr19	10683742	10683742	G	A	exonic	ILF3	.	nonsynonymous SNV	ILF3:NM_001137673:exon16:c.G1970A:p.R657H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	D	0.999	D	0.872	P	0.000	D	1.000	D	0.975	L	2.4	T	-1.117	T	0.069	T	0.491	3.223	16.80	4.79	1.462	8.347	15.268	0.171	0.0181873517275	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.741e-06	2.736e-06	1.363e-06	4.133e-06	2.257e-05	6.4e-07	4.3e-07	7.2e-07	2e-07	0	2.257e-05	0	0	0	0	2.701e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.081	0.47320	T	0.541	0.69154	T	0.948	0.77913	P	0.432	0.61918	B	0.000000	0.84330	D	0.000000	0.999837	0.49637	D	2.095	0.58118	M	2.21	0.18414	T	-0.84	0.22944	N	0.474	0.60071	-1.1167	0.02552	T	0.069	0.28213	T	10	0.38783574	0.54672	T	0.018187	0.40170	T	0.171	0.43483	0.348	0.34436	0.505880369122	0.50227	0.5917198129904536	0.59101	0.38453098163	0.39751	0.654335200787	0.60601	T	0.365613	0.73100	T	-0.0944908	0.37336	T	-0.373506	0.36479	T	0.766643285751343	0.44239	D	0.905909	0.84742	D	0.08648827	0.20104	0.06345532	0.12572	0.08648827	0.20104	0.06345532	0.12571	-8.707	0.65791	D	.	.	0.828	0.81933	P	.;.;.;.;.;.;.	.;.;.;.;.;.;.	4.197478	0.63317	24.6	0.99690859739079452	0.79909	0.98082	0.79445	D	AEFDBCI	0.892555	0.82959	D	0.322220205280883	0.57290	3.895873	0.329797011529616	0.57298	3.895014	0.999283956218648	0.39007	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.84	4.79	0.60909	6.706000	0.74474	10.033000	0.83171	0.676000	0.76740	0.996000	0.39380	1.000000	0.68203	0.375000	0.26223	0.0:0.0:0.8583:0.1417	15.268	0.73376	735	0.53711	.;.;.;.;.;.;.	.	.	.	.	.	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	4290.08	50	chr19	10683742	.	G	A	4290.08	.	AC=2;AF=0.048;AN=42;DP=1098;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;QD=34.32;SOR=0.709	GT:AD:DP:GQ:PL	1/1:0,125:125:99:4318,376,0	20	1	0	0
chr19	11236849	11236849	C	T	exonic	DOCK6	.	nonsynonymous SNV	DOCK6:NM_001367830:exon19:c.G2104A:p.G702S	Adams-Oliver syndrome 2, Autosomal recessive	.	0	1481	38	3	0	44	0.0146374	.	.	514258	not_provided|Adams-Oliver_syndrome_2|DOCK6-related_disorder	MedGen:C3661900|MONDO:MONDO:0013635,MedGen:C3280182,OMIM:614219,Orphanet:974|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.02	D	0.734	P	0.211	B	0.000	D	0.777	D	2.205	M	1.69	T	-0.939	T	0.056	T	0.209	3.415	17.54	3.62	2.148	4.448	5.400	0.093	.	0.0008	0.00199681	0.0062	0.0009	0.0047	0	0.0192	0.0028	0.0053	0.0120	0.0014553	225	154602	rs199838752	0.0019	0.0019	0.0015	0.0022	0.0118	0.0018	0.0018	0.0112	0.0109	0.0001	0.0008	0.0040	2.778e-05	0.0015	0.0091	0.0012	0.0023	0.0118	0.0013	0.0013	0.0013	0.0013	0.0087	0.0012	0.0011	0.0066	0.0059	0.0004	0	0.0007	0.0055	0.0002	0.0016	0.0136	0.0013	0.0014	0.0087	0.017	0.51248	D	0.321	0.19073	T	0.586	0.38931	P	0.211	0.37346	B	0.000237	0.47286	D	0.173369	0.776653	0.34216	D	1.72	0.44442	L	1.69	0.27032	T	-3.76	0.71276	D	0.271	0.30687	-0.9394	0.42711	T	0.056	0.23639	T	10	0.00919348	0.00208	T	.	.	.	0.093	0.26882	.	.	0.414281671643	0.41045	0.5572741867770362	0.55654	0.352166808134	0.37058	0.556195914745	0.46730	T	0.138703	0.47233	T	-0.514771	0.00472	T	-0.502814	0.22056	T	0.0360450584337314	0.02988	T	0.812119	0.46368	T	0.19699134	0.41548	0.23599456	0.48859	0.19699134	0.41547	0.23599456	0.48858	-4.96	0.36403	T	.	.	0.081	0.08176	B	.	.	3.503437	0.49029	22.7	0.99803746337406507	0.88817	0.73063	0.35744	D	AEFDBHCIJ	0.244935	0.36595	N	0.255939982699271	0.53933	3.560307	0.281550120516721	0.54463	3.611177	0.999999985886754	0.74766	0.706548	0.73137	0	0.643519	0.57511	0	0.693117	0.63056	0	0.714379	0.83352	0	.	.	4.66	3.62	0.40616	3.157000	0.50414	.	.	0.599000	0.40250	0.929000	0.32243	0.999000	0.35428	0.940000	0.48062	0.0:0.7138:0.0:0.2862	5.400	0.15591	830	0.39242	DHR-1 domain|DHR-1 domain|Dedicator of cytokinesis C, C2 domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.07143	7920.66	59	chr19	11236849	.	C	T	7920.66	.	AC=3;AF=0.071;AN=42;BaseQRankSum=0.674;DP=1201;ExcessHet=0.0000;FS=1.859;InbreedingCoeff=0.6410;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=19.27;ReadPosRankSum=1.49;SOR=0.572	GT:AD:DP:GQ:PL	1/1:0,162:162:99:5216,486,0	19	1	1	0
chr19	11405406	11405406	G	C	exonic	RGL3	.	nonsynonymous SNV	RGL3:NM_001035223:exon8:c.C1017G:p.N339K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.000	D	1.000	D	4.235	H	-0.44	T	0.121	D	0.587	D	0.498	3.271	16.98	0.744	0.212	0.433	8.708	0.423	0.196437592837	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.78490	D	0.003	0.79402	D	.	.	.	.	.	.	0.000000	0.84330	D	0.000000	0.999782	0.49076	D	.	.	.	-0.44	0.69777	T	-5.56	0.86296	D	0.955	0.96416	0.121	0.84545	D	0.587	0.85193	D	10	0.9687301	0.96415	D	0.196438	0.86479	D	0.633	0.85924	0.856	0.95547	0.645372302287	0.64243	0.7254216986829906	0.72486	0.56572969357	0.52901	0.781132102013	0.79098	T	0.497296	0.81923	T	0.0551969	0.59008	T	-0.15849	0.58488	T	0.997808158397675	0.92464	D	0.953905	0.82456	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.997	0.96466	P	.;.	.;.	3.588069	0.50618	23.0	0.99736088181629057	0.83119	0.90066	0.50957	D	AEFDBI	0.565574	0.57190	D	0.48326814403872	0.66114	4.908338	0.284030260583653	0.54608	3.625159	1.08984404763921E-4	0.05123	0.695654	0.57023	0	0.588015	0.36545	0	0.723109	0.80598	0	0.613276	0.41899	0	.	.	5.26	0.744	0.17503	0.403000	0.20706	.	.	0.676000	0.76740	0.998000	0.41325	0.995000	0.32472	0.700000	0.34141	0.3282:0.0:0.6718:0.0	8.708	0.33527	862	0.33134	Ras guanine-nucleotide exchange factors catalytic domain|Ras guanine-nucleotide exchange factors catalytic domain|Ras guanine-nucleotide exchange factors catalytic domain|Ras guanine-nucleotide exchange factors catalytic domain;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	209.78	55	chr19	11405406	.	G	C	209.78	.	AC=6;AF=0.200;AN=30;BaseQRankSum=-1.596e+00;DP=1235;ExcessHet=1.7912;FS=66.458;InbreedingCoeff=-0.2677;MLEAC=6;MLEAF=0.200;MQ=59.99;MQRankSum=0.00;QD=0.65;ReadPosRankSum=0.788;SOR=8.235	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:46,5:53:15:.:.:15,0,1886	9	0	6	6
chr19	11405407	11405407	T	C	exonic	RGL3	.	nonsynonymous SNV	RGL3:NM_001035223:exon8:c.A1016G:p.N339S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	1.0	D	0.999	D	0.000	D	1.000	D	3.195	M	-0.42	T	0.276	D	0.556	D	0.448	3.897	19.81	5.26	1.991	7.387	14.148	0.767	0.11765181501	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	6.842e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.032	0.46910	D	0.045	0.49942	D	.	.	.	.	.	.	0.000000	0.84330	D	0.000000	0.999996	0.58761	D	.	.	.	-0.42	0.69536	T	-4.51	0.78222	D	0.926	0.93018	0.276	0.87164	D	0.556	0.83798	D	10	0.95189494	0.94530	D	0.117652	0.79749	D	0.767	0.92129	0.82	0.93328	0.643127189037	0.64018	0.5853249714877617	0.58462	0.473787794825	0.46581	0.688574552536	0.65501	T	0.388278	0.74899	T	0.0804978	0.62098	D	-0.122147	0.61625	T	0.997053503990173	0.90665	D	0.950605	0.81072	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.757	0.78104	P	.;.	.;.	4.976953	0.82408	27.8	0.998584207163148	0.93729	0.98131	0.79864	D	AEFDBI	0.948277	0.95973	D	0.784910675588042	0.85151	8.491899	0.694214424071738	0.81937	7.645418	0.999407243211158	0.39524	0.695654	0.57023	0	0.588015	0.36545	0	0.723109	0.80598	0	0.613276	0.41899	0	.	.	5.26	5.26	0.73479	7.669000	0.82880	.	.	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.686000	0.33718	0.0:0.0:0.0:1.0	14.148	0.64894	862	0.33134	Ras guanine-nucleotide exchange factors catalytic domain|Ras guanine-nucleotide exchange factors catalytic domain|Ras guanine-nucleotide exchange factors catalytic domain|Ras guanine-nucleotide exchange factors catalytic 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	0.1389	146.75	66	chr19	11405407	.	T	C	146.75	.	AC=5;AF=0.139;AN=36;BaseQRankSum=-1.522e+00;DP=1164;ExcessHet=1.1607;FS=60.944;InbreedingCoeff=-0.1794;MLEAC=5;MLEAF=0.139;MQ=60.00;MQRankSum=0.00;QD=0.58;ReadPosRankSum=0.701;SOR=6.151	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:50,5:55:12:.:.:12,0,1902	13	0	5	3
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	2/2:0,3,125:128:99:5397,5313,5638,377,270,0	2	0	2	0
chr19	12391679	12391679	T	C	exonic	ZNF799	.	nonsynonymous SNV	ZNF799:NM_001080821:exon4:c.A719G:p.Y240C	.	.	421	1087	14	0	0	14	0.00639854	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.995	D	0.971	D	.	.	1.000	N	1.19	L	2.16	T	-1.041	T	0.066	T	0.231	1.435	10.74	-1.7	-0.667	-1.147	2.659	0.046	.	0.0002	0.00519169	0.0040	0.0001	0.0015	0.0005	0	0.0008	0.0088	0.0241	0.0034217	529	154602	rs199602674	0.0019	0.0019	0.0013	0.0026	0.0224	0.0019	0.0018	0.0216	0.0212	0.0001	0.0009	0.0047	2.521e-05	0	0.0028	0.0005	0.0022	0.0224	0.0011	0.0011	0.0009	0.0014	0.0199	0.0010	0.0010	0.0167	0.0155	2.408e-05	0	0.0005	0.0037	0.0002	9.43e-05	0.0034	0.0008	0.0009	0.0199	0.004	0.65419	D	0.008	0.83351	D	0.995	0.67487	D	0.971	0.72444	D	.	.	.	.	1	0.08975	N	0.835	0.21042	L	2.16	0.19166	T	-3.12	0.63782	D	0.178	0.19190	-1.0412	0.16951	T	0.066	0.27330	T	9	0.0033819377	0.00059	T	.	.	.	0.046	0.12618	.	.	0.45553875121	0.45177	0.03213860612288285	0.03161	0.48509629398	0.47406	0.330924153328	0.15074	T	0.185887	0.53900	T	-0.603852	0.00138	T	-0.623248	0.10931	T	0.0835515414461699	0.10435	T	0.517648	0.19432	T	0.1136705	0.26844	0.119091146	0.28747	0.1136705	0.26844	0.119091146	0.28746	-1.794	0.02491	T	.	.	0.128	0.27702	B	.;.	.;.	2.216304	0.28277	17.74	0.96646871856328209	0.30574	0.03397	0.08510	N	AEFBCI	0.031504	0.03385	N	-0.614894736250521	0.18496	0.9607368	-0.925964452014483	0.11482	0.5852216	0.00272844478042455	0.09662	0.562547	0.31514	0	0.653731	0.59785	0	0.670488	0.60580	0	0.491896	0.07777	0	.	.	1.14	-1.7	0.07721	-1.790000	0.01856	.	.	0.347000	0.19874	0.000000	0.06391	0.000000	0.08366	0.983000	0.59808	0.5071:0.2413:0.0:0.2516	2.659	0.04714	923	0.18507	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	11853.08	132	chr19	12391679	.	T	C	11853.08	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.87;DP=3177;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=57.51;MQRankSum=2.37;QD=32.74;ReadPosRankSum=-2.390e-01;SOR=0.332	GT:AD:DP:GQ:PL	1/1:1,361:362:99:11881,1076,0	20	1	0	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	3/3:0,0,0,45,0,0,0:45:99:.:.:2021,2021,2021,2021,2021,2021,138,138,138,0,2021,2021,2021,138,2021,2021,2021,2021,138,2021,2021,2021,2021,2021,138,2021,2021,2021	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	3/3:0,0,0,45,0,0,0:45:99:.:.:2021,2021,2021,2021,2021,2021,138,138,138,0,2021,2021,2021,138,2021,2021,2021,2021,138,2021,2021,2021,2021,2021,138,2021,2021,2021	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	3/3:0,0,0,45,0,0,0:45:99:.:.:2021,2021,2021,2021,2021,2021,138,138,138,0,2021,2021,2021,138,2021,2021,2021,2021,138,2021,2021,2021,2021,2021,138,2021,2021,2021	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	3/3:0,0,0,45,0,0,0:45:99:.:.:2021,2021,2021,2021,2021,2021,138,138,138,0,2021,2021,2021,138,2021,2021,2021,2021,138,2021,2021,2021,2021,2021,138,2021,2021,2021	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	3/3:0,0,0,45,0,0,0:45:99:.:.:2021,2021,2021,2021,2021,2021,138,138,138,0,2021,2021,2021,138,2021,2021,2021,2021,138,2021,2021,2021,2021,2021,138,2021,2021,2021	2	3	6	0
chr19	13889693	13889693	G	A	exonic	C19orf57	.	nonsynonymous SNV	C19orf57:NM_001345846:exon5:c.C809T:p.T270I	.	.	401	1117	4	0	0	4	0.00178731	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09	T	0.184	B	0.069	B	0.057	N	1.000	N	0.55	N	0.82	T	-1.031	T	0.077	T	0.098	1.211	9.915	-3.42	-0.556	-4.641	4.532	0.026	.	.	0.00159744	0.0017	0.0002	8.712e-05	0	0	0	0.0012	0.0123	0.0013519	209	154602	rs577821812	0.0007	0.0007	0.0004	0.0011	0.0113	0.0007	0.0007	0.0108	0.0105	0.0001	0	0	0	0	0.0002	1.261e-05	0.0007	0.0113	0.0004	0.0004	0.0001	0.0006	0.0106	0.0003	0.0003	0.0082	0.0074	4.81e-05	0	0	0	0.0002	0	0	0	0	0.0106	0.083	0.33091	T	0.205	0.27145	T	0.184	0.29209	B	0.069	0.27757	B	0.057181	0.02095	N	2.343650	1	0.08975	N	1.1	0.28011	L	0.82	0.48142	T	-4.32	0.76655	D	0.051	0.05037	-1.0309	0.20163	T	0.077	0.30798	T	10	0.0029499829	0.00048	T	.	.	.	0.026	0.05648	0.193	0.10437	0.144782658237	0.14088	0.0659430942847921	0.06533	0.469413479543	0.46249	.	.	.	0.017206	0.14076	T	-0.641043	0.00082	T	-0.684196	0.06731	T	0.0147717187028761	0.00309	T	0.530047	0.17660	T	0.11144671	0.26337	0.087704785	0.20404	0.11144671	0.26337	0.087704785	0.20403	-4.908	0.36447	T	.	.	0.117	0.32005	B	.;.	.;.	-0.582891	0.01619	0.111	0.96223989291799461	0.29097	0.00839	0.03365	N	AEFBI	0.044241	0.07094	N	-1.21607881405562	0.04766	0.2158157	-1.32518886165039	0.04107	0.1930297	0.0180247186747771	0.13014	0.615465	0.37627	0	0.588015	0.36545	0	0.658983	0.55881	0	0.567892	0.33627	0	.	.	3.9	-3.42	0.04521	-3.647000	0.00453	-5.017000	0.01885	0.676000	0.76740	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.4663:0.165:0.3687:0.0	4.532	0.11413	917	0.20147	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	3460.08	42	chr19	13889693	.	G	A	3460.08	.	AC=2;AF=0.048;AN=42;DP=916;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;QD=36.15;SOR=1.609	GT:AD:DP:GQ:PL	1/1:0,94:94:99:3488,283,0	20	1	0	0
chr19	13959894	13959894	-	GGTGGGCCCAGGGCAGGCAG	exonic	DCAF15	.	frameshift insertion	DCAF15:NM_138353:exon9:c.1439_1440insGGTGGGCCCAGGGCAGGCAG:p.C482Gfs*59,	.	.	429	927	68	95	3	261	0.122159	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0015	0.0165	0.0004	0	0	3.429e-05	0	0	0.0002305	6	26028	.	0.0004	0.0004	0.0005	0.0003	0.0154	0.0004	0.0004	0.0142	0.0138	0.0154	0.0009	0	0	0	0.0008	1.26e-05	0.0008	9.603e-05	0.0040	0.0039	0.0038	0.0042	0.0139	0.0037	0.0036	0.0129	0.0125	0.0139	0	0.0015	0	0	0	0	1.518e-05	0.0035	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.381	8404.5	34	chr19	13959894	.	A	AGGTGGGCCCAGGGCGGGCAG,AGGTGGGCCCAGGGCAGGCAG	8404.5	.	AC=15,1;AF=0.357,0.024;AN=42;BaseQRankSum=0.536;DP=1417;ExcessHet=0.3152;FS=5.121;InbreedingCoeff=0.1923;MLEAC=15,1;MLEAF=0.357,0.024;MQ=60.00;MQRankSum=0.00;QD=14.10;ReadPosRankSum=-9.810e-01;SOR=1.052	GT:AD:DP:GQ:PL	1/1:0,22,0:22:59:964,59,0,971,66,978	9	4	7	0
chr19	14089295	14089300	TCTTCA	-	exonic	SAMD1	.	nonframeshift deletion	SAMD1:NM_138352:exon3:c.699_704del:p.D233_E234del,	.	.	413	1105	2	0	2	4	0.000904159	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0103	.	0.0056	0.0041	0.0064	0.0074	0.0009	0.0034	0	0.0093	0.0003458	9	26028	rs374448790	0.0052	0.0051	0.0052	0.0053	0.0079	0.0051	0.0051	0.0074	0.0072	0.0028	0.0032	0.0003	0.0047	0.0008	0.0007	0.0056	0.0036	0.0079	0.0044	0.0044	0.0041	0.0048	0.0116	0.0041	0.0040	0.0102	0.0096	0.0026	0	0.0116	0	0.0054	0.0006	0	0.0047	0.0014	0.0060	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	2563.05	33	chr19	14089294	.	TTCTTCA	T	2563.05	.	AC=2;AF=0.048;AN=42;DP=795;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;QD=28.05;SOR=1.773	GT:AD:DP:GQ:PL	1/1:0,59:59:99:2591,178,0	20	1	0	0
chr19	14089297	14089297	T	0	exonic	SAMD1	.	.	.	.	.	421	931	119	12	39	182	0.0713217	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09524	1349.48	33	chr19	14089297	.	T	C,A,*	1349.48	.	AC=1,1,2;AF=0.024,0.024,0.048;AN=42;BaseQRankSum=-1.173e+00;DP=850;ExcessHet=0.0082;FS=7.035;InbreedingCoeff=0.4474;MLEAC=1,1,2;MLEAF=0.024,0.024,0.048;MQ=60.00;MQRankSum=0.00;QD=6.96;ReadPosRankSum=1.09;SOR=0.361	GT:AD:DP:GQ:PL	3/3:0,0,0,59:59:99:2591,2591,2591,2591,2591,2591,178,178,178,0	18	0	1	0
chr19	15879788	15879788	G	A	exonic	CYP4F2	.	nonsynonymous SNV	CYP4F2:NM_001082:exon10:c.C1225T:p.P409S,	.	.	421	1100	1	0	0	1	0.000454339	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07	T	0.893	P	0.77	P	0.000	U	1.000	D	1.445	L	-0.35	T	-0.646	T	0.284	T	0.222	2.303	13.66	1.72	0.478	5.639	7.512	0.303	0.0086737213106	7.7e-05	.	0.0003	0	0	0.0001	0.0033	0.0001	0	6.056e-05	0.0002135	33	154602	rs200492423	0.0001	0.0001	0.0001	0.0001	0.0001	0.0001	0.0001	7.997e-05	6.236e-05	0	2.236e-05	3.826e-05	0.0001	0.0019	0	6.205e-05	0.0001	0.0001	0.0002	0.0002	0.0002	0.0003	0.0006	0.0002	0.0001	0.0002	8.398e-05	0	0	6.536e-05	0	0.0006	0.0021	0	0.0001	0.0005	0.0002	0.071	0.35165	T	0.069	0.43913	T	0.893	0.49136	P	0.77	0.56828	P	0.000252	0.46924	U	0.086241	0.999201	0.46326	D	2.92	0.84325	M	-0.35	0.68616	T	-7.29	0.94457	D	0.376	0.44283	-0.6461	0.62883	T	0.284	0.65635	T	10	0.070025116	0.10129	T	0.008674	0.22903	T	0.303	0.62400	.	.	0.779242064684	0.77721	0.7434327795734136	0.74289	0.441832569809	0.44166	0.299775838852	0.10368	T	0.24599	0.61539	T	-0.226322	0.17138	T	-0.326204	0.41889	T	0.264668284688686	0.23518	T	0.891311	0.62583	D	0.259097	0.48962	0.25725576	0.51439	0.259097	0.48961	0.25725576	0.51438	-8.108	0.61805	D	.	.	0.142	0.31304	B	.;.	.;.	4.075996	0.60593	24.2	0.99797735414175182	0.88283	0.86713	0.46053	D	AEFDBHCI	0.737995	0.68302	D	0.0514573262499885	0.44208	2.699201	-0.0831265311007021	0.36087	2.095725	8.55806236591755E-4	0.07917	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	2.78	1.72	0.23498	5.901000	0.69600	.	.	0.586000	0.30580	1.000000	0.71638	1.000000	0.68203	0.131000	0.19607	0.139:0.0:0.8609:0.0	7.512	0.26748	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	5151.08	46	chr19	15879788	.	G	A	5151.08	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.47;DP=1080;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=33.67;ReadPosRankSum=1.26;SOR=0.761	GT:AD:DP:GQ:PL	1/1:2,151:153:99:5179,410,0	20	1	0	0
chr19	16750330	16750330	C	T	exonic	NWD1	.	nonsynonymous SNV	NWD1:NM_001347994:exon5:c.C1070T:p.T357M	.	.	435	1050	35	2	0	39	0.0182328	.	.	2811785	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.22	T	0.181	B	0.014	B	0.241	N	1.000	N	-0.6	N	0.53	T	-1.075	T	0.037	T	0.141	-1.414	0.022	2.48	0.901	0.932	4.816	0.029	.	0.0052	0.00319489	0.0069	0.0009	0.0018	0	0.0024	0.0092	0.0059	0.0102	0.0065135	1007	154602	rs141300843	0.0064	0.0064	0.0062	0.0065	0.0188	0.0062	0.0062	0.0159	0.0148	0.0017	0.0028	0.0183	5.038e-05	0.0021	0.0188	0.0066	0.0065	0.0084	0.0044	0.0044	0.0046	0.0043	0.0077	0.0042	0.0040	0.0065	0.0063	0.0008	0	0.0018	0.0153	0	0.0024	0.0170	0.0070	0.0071	0.0077	0.158	0.23905	T	0.526	0.10245	T	0.082	0.24665	B	0.014	0.16862	B	0.241064	0.15710	N	0.640286	1	0.08975	N	-0.485	0.02676	N	0.47	0.56114	T	0.43	0.03297	N	0.066	0.06990	-1.0755	0.08246	T	0.037	0.15770	T	10	0.0032134652	0.00055	T	.	.	.	0.029	0.06676	.	.	0.0611884634855	0.05136	0.23055863881366614	0.22970	0.152614297505	0.17216	0.302149355412	0.10722	T	5.85E-4	0.00238	T	-0.551344	0.00286	T	-0.557921	0.16572	T	0.00625591657394117	0.00069	T	0.715328	0.32778	T	0.018980328	0.00422	0.03925748	0.03978	0.018980328	0.00422	0.03925748	0.03978	-2.588	0.07153	T	.	.	0.074	0.07745	B	.;.;.;.	.;.;.;.	0.796979	0.11677	8.258	0.07088336291344946	0.00035	0.00419	0.02071	N	AEFBI	0.024551	0.01538	N	-0.965319545037062	0.09351	0.4422479	-0.917865094440947	0.11672	0.5961045	2.7198815757485E-5	0.03498	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.04	2.48	0.29194	2.174000	0.42109	1.637000	0.27771	0.589000	0.31548	0.210000	0.24424	0.011000	0.20116	0.075000	0.16954	0.0:0.4509:0.0:0.549	4.816	0.12731	906	0.23090	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.07143	2048.66	41	chr19	16750330	.	C	T	2048.66	.	AC=3;AF=0.071;AN=42;BaseQRankSum=0.531;DP=840;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=0.6410;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=20.49;ReadPosRankSum=-7.100e-01;SOR=0.754	GT:AD:DP:GQ:PL	1/1:0,49:49:99:1526,147,0	19	1	1	0
chr19	17286678	17286692	GTGTGTGTGTGTGTT	0	exonic	ANKLE1	.	.	.	.	.	559	741	214	4	4	226	0.130282	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	4004.43	34	chr19	17286678	.	GTGTGTGTGTGTGTT	*,G	4004.43	.	AC=1,8;AF=0.025,0.200;AN=40;BaseQRankSum=0.870;DP=1077;ExcessHet=0.9430;FS=6.169;InbreedingCoeff=-0.0269;MLEAC=1,8;MLEAF=0.025,0.200;MQ=59.96;MQRankSum=0.00;QD=11.34;ReadPosRankSum=1.98;SOR=0.455	GT:AD:DP:GQ:PGT:PID:PL:PS	1/2:0,8,27:35:99:.:.:1416,888,836,263,0,207	12	0	0	1
chr19	17286684	17286684	G	0	exonic	ANKLE1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.375	4780.38	36	chr19	17286684	.	G	T,*	4780.38	.	AC=7,9;AF=0.175,0.225;AN=40;BaseQRankSum=-8.400e-01;DP=1119;ExcessHet=4.5793;FS=8.883;InbreedingCoeff=-0.2478;MLEAC=7,9;MLEAF=0.175,0.225;MQ=59.96;MQRankSum=0.00;QD=8.55;ReadPosRankSum=0.894;SOR=0.329	GT:AD:DP:GQ:PGT:PID:PL:PS	2/2:0,0,27:35:56:.:.:1209,1104,1080,56,79,0	6	0	6	1
chr19	17286686	17286692	GTGTGTT	0	exonic	ANKLE1	.	.	.	.	.	513	567	132	0	310	442	0.104265	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	1476.26	36	chr19	17286686	.	GTGTGTT	*,G,TTGTGTT	1476.26	.	AC=9,2,4;AF=0.214,0.048,0.095;AN=42;BaseQRankSum=0.195;DP=1111;ExcessHet=3.1640;FS=2.719;InbreedingCoeff=-0.1486;MLEAC=9,2,4;MLEAF=0.214,0.048,0.095;MQ=60.00;MQRankSum=0.00;QD=2.88;ReadPosRankSum=0.928;SOR=0.500	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,27,0,0:35:56:.:.:1209,56,0,1104,79,1080,1104,79,1080,1080	8	1	7	0
chr19	17286688	17286692	GTGTT	0	exonic	ANKLE1	.	.	.	.	.	525	471	333	8	185	534	0.270333	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4524	4769.66	36	chr19	17286688	.	GTGTT	*,G,TTGTT	4769.66	.	AC=11,10,1;AF=0.262,0.238,0.024;AN=42;BaseQRankSum=0.035;DP=1122;ExcessHet=8.0185;FS=14.083;InbreedingCoeff=-0.3339;MLEAC=11,10,1;MLEAF=0.262,0.238,0.024;MQ=60.00;MQRankSum=0.00;QD=7.34;ReadPosRankSum=0.733;SOR=0.210	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,27,0,0:35:56:.:.:1209,56,0,1104,79,1080,1104,79,1080,1080	3	1	6	0
chr19	17286690	17286692	GTT	0	exonic	ANKLE1	.	.	.	.	.	521	443	240	2	316	560	0.215929	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5476	2703.98	18	chr19	17286690	.	GTT	*,G	2703.98	.	AC=19,8;AF=0.452,0.190;AN=42;BaseQRankSum=-1.400e-01;DP=1116;ExcessHet=3.1640;FS=12.346;InbreedingCoeff=-0.0816;MLEAC=19,7;MLEAF=0.452,0.167;MQ=59.97;MQRankSum=0.00;QD=4.53;ReadPosRankSum=0.510;SOR=0.209	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,27,0:35:56:.:.:1209,56,0,1104,79,1080	2	3	9	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	1/1:0,35,0:35:99:.:.:2023,138,0,1974,165,2268	0	10	3	0
chr19	19501203	19501205	GGA	-	exonic	GATAD2A	.	nonframeshift deletion	GATAD2A:NM_001384539:exon8:c.1200_1202del:p.E402del	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0013	0.000798722	0.0010	0.0003	0.0015	0	0.0003	0.0015	0	6.069e-05	0.0001921	5	26028	rs372055939	0.0017	0.0017	0.0018	0.0016	0.0021	0.0017	0.0016	0.0020	0.0020	0.0004	0.0014	0	0	0.0002	0.0005	0.0021	0.0015	3.478e-05	0.0014	0.0014	0.0012	0.0015	0.0024	0.0012	0.0012	0.0020	0.0018	0.0003	0	0.0024	0.0003	0	0.0003	0	0.0022	0.0009	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2331.94	33	chr19	19501202	.	GGGA	G	2331.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.484;DP=844;ExcessHet=0.0000;FS=5.128;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.54;ReadPosRankSum=1.07;SOR=0.387	GT:AD:DP:GQ:PL	0/1:79,62:141:99:2346,0,3080	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|2:0,0,71:71:99:1|1:20624327_GGCTTTGCCACATTCTTCACATTTGTAGAATTTCTCTCCAGTATGATTCTCTCATGTGTAGTAAGGATTGAGGACTGGTTGAAGGCTTTGCCACATTCTTCACATTTGTAGGGTCTCTCTCCAGTATGAATTTTCTTATGTGTAGTAAGGTTAGAGGAGCACTTAAAA_G:1360,1360,1360,143,143,0:20624327	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|2:0,0,71:71:99:1|1:20624327_GGCTTTGCCACATTCTTCACATTTGTAGAATTTCTCTCCAGTATGATTCTCTCATGTGTAGTAAGGATTGAGGACTGGTTGAAGGCTTTGCCACATTCTTCACATTTGTAGGGTCTCTCTCCAGTATGAATTTTCTTATGTGTAGTAAGGTTAGAGGAGCACTTAAAA_G:1360,1360,1360,143,143,0:20624327	0	4	3	7
chr19	21056918	21056918	C	T	exonic	ZNF430	.	nonsynonymous SNV	ZNF430:NM_001172671:exon5:c.C607T:p.P203S	.	.	431	1079	11	1	0	13	0.00598802	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.12	T	0.082	B	0.026	B	.	.	0.839	N	1.455	L	1.61	T	-1.017	T	0.050	T	0.092	0.378	6.054	-2.09	-0.530	-0.892	2.777	0.005	0.0012792000576	0.0003	0.000998403	0.0016	0.0001	0.0002	0.0002	0.0002	0.0010	0.0011	0.0070	0.0013842	214	154602	rs7256437	0.0010	0.0010	0.0008	0.0012	0.0064	0.0009	0.0009	0.0060	0.0058	2.994e-05	0.0003	0	0.0002	9.367e-05	0.0023	0.0007	0.0008	0.0064	0.0006	0.0006	0.0006	0.0006	0.0048	0.0005	0.0005	0.0033	0.0028	0.0001	0	0	0	0.0002	9.423e-05	0	0.0009	0	0.0048	0.15	0.24661	T	0.145	0.33000	T	0.082	0.24665	B	0.026	0.20792	B	.	.	.	.	0.838763	0.28660	N	1.895	0.50365	L	1.61	0.28391	T	-3.57	0.68999	D	0.149	0.15187	-1.0173	0.24592	T	0.050	0.21456	T	9	0.008356005	0.00189	T	0.001279	0.01759	T	0.005	0.00259	.	.	0.0297737177859	0.01360	0.012166240733161061	0.01175	0.139298822938	0.15699	0.242090597749	0.02981	T	0.080619	0.36406	T	-0.640936	0.00082	T	-0.690547	0.06358	T	0.00829786027620292	0.00100	T	0.0383962	0.00265	T	0.06459335	0.13721	0.12360636	0.29804	0.06459335	0.13721	0.12360636	0.29804	-4.202	0.26780	T	.	.	0.133	0.28750	B	.	.	-0.109836	0.03584	0.697	0.47525260264423635	0.03893	0.01620	0.05236	N	AEFBI	0.026657	0.02041	N	-1.32880055363593	0.03350	0.1494875	-1.4859767581626	0.02459	0.1131281	6.28953257013217E-4	0.07482	0.562547	0.31514	0	0.653731	0.59785	0	0.602189	0.34648	0	0.635551	0.53088	0	.	.	1.04	-2.09	0.06831	0.045000	0.13898	.	.	-0.353000	0.05553	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.2678:0.505:0.0:0.2272	2.777	0.05022	988	0.01987	.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.09524	7723.9	35	chr19	21056918	.	C	T	7723.9	.	AC=4;AF=0.095;AN=42;BaseQRankSum=1.52;DP=1087;ExcessHet=0.0082;FS=0.535;InbreedingCoeff=0.4474;MLEAC=4;MLEAF=0.095;MQ=60.00;MQRankSum=0.00;QD=17.63;ReadPosRankSum=0.074;SOR=0.752	GT:AD:DP:GQ:PL	1/1:0,128:128:99:4216,384,0	18	1	2	0
chr19	32794778	32794778	G	A	exonic	TDRD12	.	nonsynonymous SNV	TDRD12:NM_001366102:exon14:c.G1438A:p.G480R,	.	.	432	1055	33	2	0	37	0.0172333	.	.	2811954	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.02	D	0.247	B	0.109	B	0.000	D	1.000	D	.	.	1.02	T	-1.026	T	0.074	T	0.228	1.359	10.47	5.44	2.565	2.768	13.538	0.065	.	.	0.00459265	0.0090	0.0014	0.005	0	0.0018	0.0106	0.0208	0.0104	0.0020116	311	154602	rs34982176	0.0077	0.0068	0.0074	0.0080	0.0289	0.0075	0.0074	0.0247	0.0231	0.0017	0.0040	0.0117	3.115e-05	0.0019	0.0289	0.0089	0.0086	0.0093	0.0057	0.0057	0.0060	0.0053	0.0090	0.0054	0.0052	0.0084	0.0081	0.0011	0.0143	0.0058	0.0101	0.0002	0.0007	0.0342	0.0090	0.0085	0.0075	0.627	0.05198	T	0.0	0.92824	D	0.247	0.31125	B	0.109	0.31370	B	0.000214	0.47681	D	0.000000	0.737116	0.29772	N	.	.	.	1.02	0.40749	T	-0.98	0.25986	N	0.134	0.13055	-1.0257	0.21853	T	0.074	0.29928	T	9	0.0044124722	0.00090	T	.	.	.	0.065	0.18881	0.591	0.71999	0.199424873507	0.19547	.	.	.	.	0.394102066755	0.24246	T	0.001107	0.00619	T	-0.533207	0.00368	T	-0.53073	0.19215	T	0.0241311227214478	0.01162	T	0.730727	0.35772	T	0.14703566	0.33630	0.16563219	0.38306	0.14703566	0.33630	0.16563219	0.38305	-8.441	0.64037	D	.	.	0.157	0.34645	B	.;.	.;.	1.372129	0.17825	13.39	0.98987957021360784	0.49882	0.59274	0.30870	D	AEFDBIJ	0.431023	0.49349	N	-0.163986840372154	0.34642	1.979767	-0.112475397459442	0.34885	2.011863	0.999584243349535	0.40607	0.553676	0.25195	0	0.607795	0.50457	0	0.602189	0.34648	0	0.620846	0.47308	0	.	.	5.44	5.44	0.79348	2.929000	0.48610	3.925000	0.40497	0.676000	0.76740	0.201000	0.24320	1.000000	0.68203	0.435000	0.27561	0.0748:0.0:0.9252:0.0	13.538	0.61116	708	0.56926	DEAD/DEAH box helicase domain;DEAD/DEAH box helicase domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	3252.66	91	chr19	32794778	.	G	A	3252.66	.	AC=3;AF=0.071;AN=42;BaseQRankSum=0.038;DP=821;ExcessHet=0.0000;FS=4.242;InbreedingCoeff=0.6410;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=20.08;ReadPosRankSum=0.782;SOR=1.087	GT:AD:DP:GQ:PL	1/1:0,71:71:99:2261,212,0	19	1	1	0
chr19	32999594	32999594	C	T	exonic	RHPN2	.	nonsynonymous SNV	RHPN2:NM_033103:exon10:c.G1217A:p.R406Q,	.	.	393	1026	102	1	0	104	0.0482375	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.27	T	0.046	B	0.011	B	0.546	N	1.000	N	1.385	L	1.92	T	-1.048	T	0.066	T	0.045	3.628	18.46	-6.97	-1.575	-0.317	3.396	0.081	0.0142889467842	.	.	7.456e-05	0.0002	8.699e-05	0.0002	0	6.023e-05	0	0	3.84e-05	1	26028	rs201438314	6.167e-06	7.524e-06	4.091e-06	8.265e-06	0.0002	2.9e-06	2.1e-06	8.222e-05	5.8e-05	0	2.239e-05	0	0.0002	0	0.0002	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.33	0.13131	T	0.262	0.22895	T	0.046	0.21875	B	0.011	0.15521	B	0.546131	0.05342	N	1.251570	1	0.08975	N	0.72	0.18721	N	1.92	0.23082	T	-1.58	0.38151	N	0.079	0.05414	-1.0477	0.15045	T	0.066	0.27364	T	10	0.048371255	0.04278	T	0.014289	0.34307	T	0.081	0.23632	.	.	0.27132560031	0.26736	0.06164481015293202	0.06104	0.382972438731	0.39630	0.201459959149	0.00501	T	0.059124	0.31030	T	-0.36165	0.04038	T	-0.757261	0.03211	T	0.0508323867332556	0.05645	T	0.756024	0.37907	T	0.041213904	0.06027	0.04124066	0.04644	0.041213904	0.06027	0.04124066	0.04643	-5.092	0.37823	T	.	.	0.066	0.02257	B	.	.	1.142576	0.15300	11.74	0.98445629126539858	0.41564	0.00752	0.03125	N	AEFDBI	0.050936	0.08950	N	-1.11366119687686	0.06399	0.2944523	-1.21024942297574	0.05744	0.2745707	0.999756840206791	0.42595	0.67177	0.52595	0	0.708844	0.79440	0	0.702456	0.68683	0	0.655142	0.61905	0	.	.	4.72	-6.97	0.01459	-0.603000	0.05770	-3.390000	0.02823	0.537000	0.25018	0.000000	0.06391	0.000000	0.08366	0.629000	0.32131	0.1977:0.0875:0.0954:0.6194	3.396	0.06880	819	0.41190	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	1	0	0	0	0.07143	100.78	62	chr19	32999594	.	C	T	100.78	.	AC=3;AF=0.071;AN=42;BaseQRankSum=1.89;DP=2162;ExcessHet=0.3300;FS=7.171;InbreedingCoeff=-0.0697;MLEAC=2;MLEAF=0.048;MQ=53.65;MQRankSum=-4.247e+00;QD=0.32;ReadPosRankSum=-2.745e+00;SOR=1.468	GT:AD:DP:GQ:PL	0/1:73,9:82:52:52,0,2152	18	0	3	0
chr19	32999679	32999679	G	A	exonic	RHPN2	.	stopgain	RHPN2:NM_033103:exon10:c.C1132T:p.Q378X,	.	.	392	647	479	4	0	487	0.273442	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3	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	0/1:145,23:168:50:50,0,4041	12	0	9	0
chr19	35617335	35617335	C	T	exonic	HAUS5	.	nonsynonymous SNV	HAUS5:NM_015302:exon8:c.C604T:p.L202F,	.	.	424	1095	3	0	0	3	0.00136799	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.998	D	0.000	D	1.000	D	2.295	M	1.02	T	-0.556	T	0.261	T	0.321	4.552	24.6	5.41	2.826	3.522	14.577	0.180	0.0236628581383	.	0.000199681	0.0003	0	0.0002	0.0002	0	0.0003	0.0022	0.0008	0.0002846	44	154602	rs201575634	0.0003	0.0003	0.0002	0.0003	0.0035	0.0003	0.0003	0.0023	0.0019	5.975e-05	0.0001	0.0005	7.557e-05	0	0.0035	0.0003	0.0005	0.0008	0.0002	0.0002	0.0002	0.0002	0.0006	0.0001	0.0001	0.0002	0.0001	4.811e-05	0	0.0002	0.0003	0	0	0	0.0003	0.0005	0.0006	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.998	0.88582	D	0.000001	0.62929	D	0.000000	0.999268	0.46490	D	2.625	0.76847	M	1.02	0.40749	T	-2.62	0.56301	D	0.448	0.48596	-0.5561	0.66553	T	0.261	0.63165	T	10	0.09344855	0.16539	T	0.023663	0.46630	T	0.180	0.45073	0.311	0.28451	0.514240282655	0.51065	0.6186918299454615	0.61802	0.840591708214	0.68044	0.432114869356	0.29497	T	0.097103	0.39959	T	-0.341146	0.05308	T	-0.331631	0.41287	T	0.132828846059341	0.15641	T	0.769823	0.39947	T	0.6885942	0.77436	0.6656507	0.80395	0.6885942	0.77437	0.6656507	0.80396	-5.567	0.42490	T	.	.	0.242	0.47676	B	.	.	4.676497	0.74799	26.2	0.99903658541256501	0.97502	0.88488	0.48439	D	AEFGBI	0.311877	0.41748	N	0.734223790492844	0.81876	7.625878	0.70344967124647	0.82640	7.817486	0.995617425284253	0.34224	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.635551	0.53088	0	.	.	5.41	5.41	0.78313	3.661000	0.54241	5.889000	0.50737	0.591000	0.32079	0.763000	0.29277	1.000000	0.68203	0.999000	0.91618	0.0:1.0:0.0:0.0	14.577	0.67849	856	0.34373	.	.	.	.	.	.	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	1271.08	37	chr19	35617335	.	C	T	1271.08	.	AC=2;AF=0.048;AN=42;DP=743;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;QD=33.45;SOR=1.493	GT:AD:DP:GQ:PL	1/1:0,38:38:99:1299,114,0	20	1	0	0
chr19	35786677	35786677	G	A	exonic	ARHGAP33	.	nonsynonymous SNV	ARHGAP33:NM_001172630:exon19:c.G1799A:p.R600Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.57	T	0.999	D	0.905	P	0.073	N	1.000	N	0.69	N	3.14	T	-1.101	T	0.030	T	0.451	3.944	20.2	4.71	2.439	2.748	11.759	0.105	0.0183049862434	.	.	.	.	.	.	.	.	.	.	.	.	.	rs550325493	3.397e-05	3.215e-05	3.139e-05	3.662e-05	0.0004	2.618e-05	2.346e-05	6.272e-05	2.669e-05	0	0	0	0	0	0.0004	3.986e-05	3.455e-05	0	3.949e-05	3.942e-05	7.716e-05	0	5.887e-05	1.718e-05	1.131e-05	1.974e-05	1.125e-05	2.418e-05	0	0	0	0	0	0	5.887e-05	0.0005	0	0.01	0.56456	D	0.291	0.20944	T	0.999	0.77913	D	0.905	0.64260	P	0.073151	0.21364	N	0.412203	1	0.81001	D	.	.	.	3.14	0.07920	T	-0.83	0.22727	N	0.328	0.36884	-1.1007	0.04008	T	0.030	0.12848	T	10	0.28410596	0.45992	T	0.018305	0.40331	T	0.105	0.29889	.	.	0.415438038341	0.41156	.	.	.	.	.	.	.	.	.	.	-0.267483	0.12039	T	-0.430966	0.29825	T	0.151663184165955	0.17235	T	0.832517	0.50110	T	.	.	.	.	.	.	.	.	-4.903	0.35769	T	.	.	0.173	0.37876	B	.	.	4.994044	0.82817	27.9	0.99940485320807071	0.99767	0.91063	0.52787	D	AEFDBHCI	0.431952	0.49403	N	0.334844944467378	0.57946	3.964088	0.373774434054104	0.59951	4.177747	0.83573139068711	0.24775	0.706298	0.61202	0	0.709663	0.81188	0	0.723109	0.80598	0	0.699875	0.68795	0	.	.	4.71	4.71	0.59010	1.638000	0.36780	8.570000	0.77602	0.676000	0.76740	0.955000	0.33325	1.000000	0.68203	0.982000	0.59238	0.0:0.0:0.8236:0.1764	11.759	0.51163	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	0.04762	2091.08	35	chr19	35786677	.	G	A	2091.08	.	AC=2;AF=0.048;AN=42;DP=768;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;QD=33.73;SOR=1.143	GT:AD:DP:GQ:PL	1/1:0,62:62:99:2119,186,0	20	1	0	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	0/1:102,41:143:99:.:.:166,0,2765	0	0	15	6
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	1|1:2,47,0:49:57:1|1:40667975_C_T:1993,57,0,1999,141,2084:40667975	4	8	8	0
chr19	41095838	41095838	G	A	exonic	CYP2A13	.	nonsynonymous SNV	CYP2A13:NM_000766:exon9:c.G1382A:p.R461H,	.	.	0	1521	1	0	0	1	0.000328623	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.14	T	0.001	B	0.001	B	0.809	N	1.000	N	0.7	N	4.98	T	-0.912	T	0.003	T	0.094	3.063	16.22	-2.2	-0.414	-1.524	2.069	0.010	0.00375986497174	.	.	5.765e-05	0	0	0	0	1.498e-05	0	0.0004	5.17e-05	8	154602	rs187221928	4.105e-05	4.104e-05	3.131e-05	5.088e-05	0.0005	3.245e-05	2.919e-05	0.0002	0.0002	0	2.236e-05	0	0	0.0001	0.0005	1.979e-05	3.312e-05	0.0003	6.568e-05	6.563e-05	5.142e-05	8.059e-05	0.0004	3.515e-05	2.615e-05	7.301e-05	3.033e-05	2.407e-05	0	0	0	0	0.0003	0	5.881e-05	0	0.0004	0.171	0.22746	T	0.113	0.36901	T	0.001	0.07471	B	0.001	0.04355	B	0.809439	0.09262	N	0.904496	1	0.08975	N	1.17	0.29769	L	4.98	0.01344	T	-0.59	0.17624	N	0.033	0.00882	-0.9121	0.46594	T	0.003	0.01092	T	10	0.061881095	0.07828	T	0.00376	0.08744	T	0.010	0.01040	0.359	0.36222	0.0666544352282	0.05500	0.23131663786363002	0.23046	0.128887692525	0.14537	0.218874931335	0.01246	T	0.031267	0.21965	T	-0.582186	0.00187	T	-0.781897	0.02397	T	0.0474540913373799	0.05046	T	0.621638	0.23898	T	0.11742669	0.27683	0.10288482	0.24670	0.11742669	0.27683	0.10288482	0.24670	-5.777	0.44373	T	.	.	0.073	0.04517	B	.	.	0.649944	0.10185	6.925	0.97640740529248149	0.35080	0.07264	0.13287	N	AEFDBHCI	0.084756	0.17179	N	-1.03045712193175	0.07976	0.3724119	-1.05842188647082	0.08532	0.4199635	0.365949011004561	0.19823	0.580535	0.33130	0	0.573888	0.26702	0	0.576033	0.28219	0	0.542086	0.14980	0	.	.	4.15	-2.2	0.06601	-1.891000	0.01703	-13.090000	0.00480	0.576000	0.29215	0.000000	0.06391	0.000000	0.08366	0.062000	0.16114	0.2137:0.3423:0.3231:0.1209	2.069	0.03389	711	0.56613	.	.	.	.	.	.	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	2059.98	45	chr19	41095838	.	G	A	2059.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.052;DP=1067;ExcessHet=0.0000;FS=1.902;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.19;ReadPosRankSum=0.145;SOR=0.547	GT:AD:DP:GQ:PL	0/1:86,83:169:99:2074,0,2123	20	0	1	0
chr19	41433272	41433272	T	C	exonic	DMAC2	.	nonsynonymous SNV	DMAC2:NM_001167871:exon4:c.A515G:p.Q172R	.	.	404	1117	1	0	0	1	0.000447427	0	0.01	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.22	B	0.188	B	0.017	N	1.000	N	1.495	L	1.46	T	-1.034	T	0.054	T	0.077	0.639	7.430	-1.59	-0.280	-0.086	5.575	0.033	0.0153287045744	7.7e-05	.	5.929e-05	0	0	0	0	0.0001	0	0	3.88e-05	6	154602	rs375351812	4.743e-05	5.199e-05	4.788e-05	4.697e-05	0.0017	3.812e-05	3.492e-05	0.0008	0.0006	8.978e-05	0	3.853e-05	0	0	0.0017	4.502e-05	6.654e-05	3.49e-05	2.629e-05	2.627e-05	3.855e-05	1.346e-05	4.411e-05	8.14e-06	5.14e-06	1.171e-05	6.25e-06	2.414e-05	0	0	0	0	0	0	4.411e-05	0	0	0.552	0.07473	T	0.215	0.92824	T	0.001	0.30288	B	0.004	0.36237	B	0.016888	0.27861	N	0.324591	1	0.81001	D	.	.	.	1.46	0.33842	T	-0.41	0.14000	N	0.141	0.15609	-1.0343	0.19078	T	0.054	0.22921	T	9	0.08168927	0.13402	T	0.015329	0.35999	T	0.033	0.08068	.	.	0.314417295294	0.31040	0.18534758903476423	0.18452	0.190717556463	0.21381	0.390698552132	0.23769	T	0.00202	0.10059	T	-0.452271	0.01095	T	-0.672098	0.07474	T	0.108368076384068	0.13254	T	0.472753	0.21195	T	0.01898305	0.00423	0.029552072	0.01305	0.01898305	0.00423	0.029552072	0.01304	-3.762	0.23383	T	.	.	0.089	0.30842	B	.;.;.;.;.	.;.;.;.;.	1.134698	0.15214	11.68	0.5779364826643052	0.05848	0.50028	0.28568	D	AEFDBHCI	0.186327	0.31364	N	-0.695264982788151	0.16156	0.8206459	-0.654649900363555	0.18100	0.9653898	0.999999157615075	0.74766	0.706548	0.73137	0	0.697927	0.68747	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	4.3	-1.59	0.08003	-0.545000	0.06159	-0.343000	0.09801	-0.163000	0.11536	0.518000	0.27096	0.376000	0.24592	0.752000	0.35857	0.0:0.3535:0.147:0.4995	5.575	0.16500	862	0.33134	.;.;.;.;.	.	.	.	.	.	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	862.98	33	chr19	41433272	.	T	C	862.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.950e+00;DP=764;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.70;ReadPosRankSum=-1.400e-02;SOR=0.741	GT:AD:DP:GQ:PL	0/1:29,34:63:99:877,0,934	20	0	1	0
chr19	42095399	42095399	C	G	exonic	POU2F2	.	nonsynonymous SNV	POU2F2:NM_001207025:exon11:c.G1018C:p.V340L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.999	D	0.989	D	0.000	D	1.000	D	3.53	H	-4.0	D	1.095	D	0.951	D	0.859	4.691	26.0	3.99	2.214	7.600	15.399	0.939	0.359661340362	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	6.841e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.0	0.92824	D	0.998	0.77913	D	0.989	0.78396	D	0.000001	0.84330	D	0.000000	1	0.81001	D	3.015	0.86134	M	-4.0	0.96339	D	-3.0	0.62343	D	0.826	0.82862	1.095	0.99469	D	0.951	0.98412	D	10	0.89701736	0.89057	D	0.359661	0.92479	D	0.939	0.98672	0.557	0.67547	0.949703262491	0.94917	0.9550304941655845	0.95488	2.60485491865	0.98196	0.885964512825	0.94748	D	0.792883	0.99163	D	0.495984	0.94173	D	0.47467	0.94096	D	0.993351914106228	0.84121	D	0.988801	0.96255	D	0.74310046	0.80470	0.69191414	0.81869	0.74310046	0.80471	0.69191414	0.81870	-12.988	0.89314	D	.	.	1.000	0.99395	P	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	5.327483	0.89412	30	0.99782441860528814	0.86867	0.97748	0.76847	D	AEFBI	0.946708	0.95645	D	0.844617874197824	0.88800	9.71644	0.738513627196856	0.85298	8.538503	0.999999999650972	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.667671	0.60360	0	0.699875	0.68795	0	.	.	3.99	3.99	0.45527	7.854000	0.85267	7.690000	0.65738	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:1.0:0.0:0.0	15.399	0.74539	846	0.36215	.;Homeobox domain|POU domain|Homeobox, conserved site|Homeobox domain|Homeobox domain|Homeobox domain;Homeobox domain|POU domain|Homeobox, conserved site|Homeobox domain|Homeobox domain|Homeobox domain;Homeobox domain|POU domain|Homeobox, conserved site|Homeobox domain|Homeobox domain|Homeobox domain;.;Homeobox domain|POU domain|Homeobox, conserved site|Homeobox domain|Homeobox domain|Homeobox domain;Homeobox domain|POU domain|Homeobox, conserved site|Homeobox domain|Homeobox domain|Homeobox domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.225	1076.49	79	chr19	42095399	.	C	G	1076.49	.	AC=9;AF=0.225;AN=40;BaseQRankSum=-3.789e+00;DP=1906;ExcessHet=4.7172;FS=144.686;InbreedingCoeff=-0.3152;MLEAC=10;MLEAF=0.250;MQ=60.00;MQRankSum=0.00;QD=1.33;ReadPosRankSum=0.594;SOR=10.723	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:75,22:97:99:.:.:186,0,1738	11	0	9	1
chr19	42758240	42758240	G	T	exonic	PSG8	.	nonsynonymous SNV	PSG8:NM_001130168:exon2:c.C105A:p.N35K	.	.	12	1508	2	0	0	2	0.000662691	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.14	T	0.006	B	0.062	B	.	.	1.000	N	1.37	L	2.74	T	-0.987	T	0.027	T	0.037	0.129	4.694	0.44	0.835	0.053	3.304	0.029	0.000620554203014	0.0002	.	7.414e-05	0	0	0	0	0.0001	0	0	5.82e-05	9	154602	rs140758943	3.626e-05	3.626e-05	3.131e-05	4.125e-05	0.0007	2.828e-05	2.565e-05	0.0002	0.0001	2.987e-05	0	0	0	0	0.0007	3.957e-05	4.967e-05	1.159e-05	2.63e-05	2.627e-05	3.855e-05	1.346e-05	4.411e-05	8.15e-06	5.14e-06	1.171e-05	6.25e-06	2.414e-05	0	0	0	0	0	0	4.411e-05	0	0	0.092	0.31682	T	0.12	0.37173	T	0.005	0.12996	B	0.037	0.23121	B	.	.	.	.	1	0.08975	N	1.935	0.51832	L	2.74	0.11730	T	-4.18	0.75537	D	0.124	0.16028	-0.9872	0.33298	T	0.027	0.11441	T	9	0.06640604	0.09102	T	6.21E-4	0.00303	T	0.029	0.06676	0.25	0.18757	0.0138822411134	0.00435	0.06015387533572749	0.05955	0.00655855936216	0.00574	0.478959977627	0.35914	T	0.023616	0.17996	T	-0.539557	0.00337	T	-0.81517	0.01552	T	0.0509389683251056	0.05665	T	0.722728	0.33613	T	0.12673002	0.29676	0.09640046	0.22904	0.12673002	0.29675	0.09640046	0.22903	-7.741	0.59375	D	.	.	0.198	0.44579	B	.;.;.	.;.;.	0.456681	0.08265	5.009	0.61375522280469075	0.06693	0.00473	0.02263	N	AEFI	0.038850	0.05558	N	-0.986032979182078	0.08901	0.4191651	-1.09986266831578	0.07703	0.3757676	1.70703421417644E-6	0.01202	0.487112	0.14033	0	0.59043	0.45803	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	1.53	0.44	0.15785	-0.219000	0.09233	-4.294000	0.02233	-0.562000	0.04833	0.002000	0.15269	0.000000	0.08366	0.001000	0.02609	0.2851:0.0:0.7149:0.0	3.304	0.06582	404	0.82510	.;.;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	1	0	0	0	0.02381	3198.98	33	chr19	42758240	.	G	T	3198.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.10;DP=985;ExcessHet=0.0000;FS=4.203;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=58.86;MQRankSum=0.586;QD=11.68;ReadPosRankSum=0.524;SOR=0.490	GT:AD:DP:GQ:PL	0/1:151,123:274:99:3213,0,3968	20	0	1	0
chr19	43613809	43613809	C	T	exonic	SRRM5	.	nonsynonymous SNV	SRRM5:NM_001145641:exon1:c.C1688T:p.P563L,	.	.	420	1085	17	0	0	17	0.00777321	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.793	P	0.422	B	.	.	1.000	N	0.895	L	.	.	-1.071	T	0.054	T	0.131	2.156	13.17	2.69	1.342	-0.697	8.668	0.029	0.0153751566796	0.0024	0.00199681	0.0055	0.0014	0.0082	0.0019	0	0.0077	0	0.0044	0.0014036	217	154602	rs189487564	0.0044	0.0042	0.0044	0.0044	0.0172	0.0043	0.0043	0.0145	0.0134	0.0007	0.0049	0.0154	0.0003	0.0009	0.0172	0.0042	0.0072	0.0060	0.0033	0.0032	0.0031	0.0034	0.0064	0.0030	0.0029	0.0047	0.0043	0.0007	0	0.0056	0.0161	0.0006	0.0002	0.0068	0.0040	0.0066	0.0064	0.007	0.59928	D	0.01	0.65728	D	0.793	0.44725	P	0.422	0.45143	B	.	.	.	.	0.999999	0.08975	N	0.975	0.24501	L	.	.	.	-4.68	0.79659	D	0.224	0.25130	-1.0707	0.09260	T	0.054	0.22693	T	8	0.005734563	0.00128	T	0.015375	0.36078	T	0.029	0.06676	.	.	0.104622674875	0.10061	0.019280012861044506	0.01881	0.0417772331007	0.04490	0.200203061104	0.00463	T	0.02123	0.16569	T	-0.570039	0.00221	T	-0.59037	0.13634	T	0.0468255951324705	0.04933	T	0.530647	0.17608	T	0.049736846	0.08879	0.08718135	0.20249	0.049736846	0.08878	0.08718135	0.20248	-6.677	0.51637	T	.	.	0.205	0.43325	B	.;.	.;.	1.128449	0.15150	11.63	0.98062548651974801	0.37960	0.06784	0.12808	N	AEFBI	0.054408	0.09890	N	-0.585054194560243	0.19397	1.014898	-0.692573163760456	0.17145	0.9103878	1.94930341135553E-4	0.05898	0.554377	0.28877	0	0.546412	0.12157	0	0.602189	0.34648	0	0.491896	0.07777	0	.	.	4.8	2.69	0.30923	-0.702000	0.05171	.	.	-0.176000	0.10722	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.811:0.0:0.189	8.668	0.33294	895	0.25842	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	9817.11	36	chr19	43613809	.	C	T	9817.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=2.89;DP=2464;ExcessHet=0.1072;FS=4.067;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=12.33;ReadPosRankSum=0.020;SOR=0.981	GT:AD:DP:GQ:PL	0/1:222,200:422:99:5255,0,5713	19	0	2	0
chr19	45345558	45345558	C	T	exonic	KLC3	.	nonsynonymous SNV	KLC3:NM_177417:exon2:c.C17T:p.A6V,	.	.	416	1101	5	0	0	5	0.00226552	.	.	2346619	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.07	T	0.003	B	0.001	B	.	.	1.000	N	0	N	-1.72	D	-0.884	T	0.237	T	0.098	-0.209	2.985	-0.692	-0.041	-0.069	2.728	0.136	0.0894714892692	.	.	0.0004	0	0	0	0	0.0007	0	0.0003	7.12e-05	11	154602	rs780895997	0.0001	0.0001	9.375e-05	0.0001	0.0026	8.735e-05	8.194e-05	0.0016	0.0013	0	5.429e-05	0	0	0	0.0026	6.804e-05	0.0001	0.0005	9.849e-05	0.0001	0.0001	6.714e-05	0.0004	6.002e-05	4.876e-05	7.287e-05	5.088e-05	2.405e-05	0	6.539e-05	0	0	0	0	0.0001	0.0009	0.0004	0.127	0.27080	T	0.18	0.34359	T	0.002	0.11197	B	0.0	0.04355	B	.	.	.	.	1	0.08975	N	1.1	0.28011	L	-1.93	0.84842	D	0.16	0.06868	N	0.185	0.21319	-0.8841	0.49431	T	0.237	0.60403	T	9	0.03731674	0.02079	T	0.089471	0.75333	D	0.136	0.36778	.	.	0.241078983079	0.23725	0.3388939209778933	0.33802	0.0125541656813	0.01197	0.739633083344	0.72919	T	0.051318	0.28845	T	-0.369914	0.03598	T	-0.467411	0.25795	T	0.0151356442020975	0.00329	T	0.665433	0.27914	T	0.031870145	0.03105	0.058050606	0.10660	0.031870145	0.03104	0.058050606	0.10660	-4.658	0.33027	T	.	.	0.094	0.33527	B	.;.;.;.;.;.	.;.;.;.;.;.	1.624532	0.20745	14.89	0.95814134769385262	0.27891	0.01122	0.04091	N	AEFDBI	0.044438	0.07148	N	-1.37107857294421	0.02913	0.1293224	-1.41183337052538	0.03133	0.1455501	0.963534797291132	0.28697	0.580535	0.33130	0	0.547309	0.14657	0	0.576033	0.28219	0	0.613276	0.41899	0	.	.	2.77	-0.692	0.10733	0.032000	0.13620	-0.499000	0.08813	-0.250000	0.07158	0.028000	0.20300	0.000000	0.08366	0.063000	0.16184	0.2071:0.4081:0.0:0.3848	2.728	0.04897	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	357.98	33	chr19	45345558	.	C	T	357.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.381;DP=767;ExcessHet=0.0000;FS=5.493;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=5.11;ReadPosRankSum=1.19;SOR=1.202	GT:AD:DP:GQ:PL	0/1:51,19:70:99:372,0,1281	20	0	1	0
chr19	45364541	45364541	G	A	exonic	ERCC2	.	nonsynonymous SNV	ERCC2:NM_001130867:exon7:c.C529T:p.H177Y	Cerebrooculofacioskeletal syndrome 2;Trichothiodystrophy 1, photosensitive, Autosomal recessive;Xeroderma pigmentosum, group D, Autosomal recessive	.	1	1511	10	0	0	10	0.00329815	.	.	537335	Xeroderma_pigmentosum|ERCC2-related_disorder|Xeroderma_pigmentosum,_group_D|not_provided	MONDO:MONDO:0019600,MedGen:C0043346,Orphanet:910|MedGen:CN239291|MONDO:MONDO:0010212,MedGen:C0268138,OMIM:278730|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.64	T	0.005	B	0.049	B	0.000	D	1.000	D	1.015	L	0.94	T	-0.844	T	0.219	T	0.578	0.254	5.371	4.62	2.544	8.839	15.334	0.225	0.0401438075216	0.0002	0.000599042	0.0006	0	0	0	0	0.0004	0	0.0032	0.0005433	84	154602	rs1799792	0.0003	0.0003	0.0002	0.0004	0.0040	0.0003	0.0003	0.0030	0.0029	0	2.236e-05	0	0	0	0.0040	0.0001	0.0005	0.0034	0.0003	0.0003	0.0003	0.0003	0.0027	0.0002	0.0002	0.0016	0.0013	2.407e-05	0	0.0004	0	0	0	0.0034	0.0003	0.0014	0.0027	1.0	0.06869	T	1.0	0.26714	T	0.001	0.07471	B	0.008	0.16012	B	0.000000	0.84330	D	0.050291	1	0.81001	D	1.285	0.32305	L	-0.54	0.70950	T	-1.12	0.36980	N	0.605	0.62611	-0.8444	0.52352	T	0.219	0.58124	T	10	0.01468423	0.00309	T	0.040144	0.59213	D	0.225	0.52323	.	.	0.775247337891	0.77318	0.6486783814286253	0.64803	0.245544508446	0.27076	0.840005278587	0.88095	D	0.192389	0.54753	T	-0.259772	0.12925	T	-0.149285	0.59307	T	0.151370365967885	0.17212	T	0.973803	0.96541	D	0.2257135	0.45238	0.2307182	0.48183	0.38624778	0.59765	0.2887532	0.54892	-6.795	0.52522	T	0.16516382062720875	0.20456	0.092	0.38569	B	.;.;.;.;.	.;.;.;.;.	3.912177	0.57055	23.8	0.44557588519036645	0.03434	0.99419	0.95789	D	AEFDBI	0.939289	0.93968	D	-0.0654711444514696	0.38913	2.286578	0.114652029528427	0.45296	2.79539	0.999999998918634	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.723109	0.80598	0	0.727631	0.95156	0	.	.	4.62	4.62	0.56946	8.872000	0.91982	11.704000	0.94545	0.662000	0.56354	1.000000	0.71638	1.000000	0.68203	0.941000	0.48210	0.0:0.0:1.0:0.0	15.334	0.73949	889	0.27310	DEAD2|Helicase superfamily 1/2, ATP-binding domain, DinG/Rad3-type|Helicase-like, DEXD box c2 type;DEAD2|Helicase superfamily 1/2, ATP-binding domain, DinG/Rad3-type|Helicase-like, DEXD box c2 type;DEAD2|Helicase superfamily 1/2, ATP-binding domain, DinG/Rad3-type|Helicase-like, DEXD box c2 type;.;DEAD2|Helicase superfamily 1/2, ATP-binding domain, DinG/Rad3-type|Helicase-like, DEXD box c2 type	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	594.98	44	chr19	45364541	.	G	A	594.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.600e-01;DP=766;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=17.50;ReadPosRankSum=0.226;SOR=0.735	GT:AD:DP:GQ:PL	0/1:15,19:34:99:609,0,386	20	0	1	0
chr19	45702991	45702991	C	T	exonic	QPCTL	.	nonsynonymous SNV	QPCTL:NM_001163377:exon6:c.C809T:p.T270M	.	.	435	1074	13	0	0	13	0.00601573	.	.	2808918	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.000	D	1.000	D	3.835	H	0.6	T	0.132	D	0.407	T	0.837	3.653	18.57	5.71	2.709	7.475	17.361	0.509	.	0.0042	0.00319489	0.0048	0.0008	0.0027	0	0.0076	0.0060	0.0066	0.0051	0.0046571	720	154602	rs117220573	0.0055	0.0055	0.0054	0.0055	0.0127	0.0054	0.0053	0.0103	0.0095	0.0008	0.0032	0.0155	5.038e-05	0.0071	0.0127	0.0055	0.0055	0.0058	0.0048	0.0048	0.0048	0.0049	0.0063	0.0046	0.0044	0.0058	0.0056	0.0010	0.0011	0.0054	0.0196	0.0002	0.0075	0.0136	0.0063	0.0038	0.0046	0.0	0.91255	D	0.001	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.18	0.88827	M	0.6	0.53731	T	-5.95	0.89152	D	0.769	0.77507	0.132	0.84734	D	0.407	0.75656	T	10	0.020620137	0.00478	T	.	.	.	0.509	0.78910	.	.	0.843917050134	0.84241	0.7657557228356774	0.76524	1.01633845458	0.74964	0.474044382572	0.35237	T	0.181289	0.53291	T	-0.0776471	0.40096	T	0.120114	0.78244	D	0.0534965583521286	0.06103	T	0.933407	0.77799	D	0.89458495	0.90904	0.7659443	0.86175	0.89458495	0.90905	0.7659443	0.86176	-9.812	0.76990	D	.	.	0.287	0.52993	B	.;.	.;.	4.919810	0.81018	27.5	0.99905262144289264	0.97576	0.98475	0.83169	D	AEFBI	0.868689	0.78891	D	0.902401251443892	0.91877	11.11199	0.776634405796864	0.88125	9.466701	0.999999999999899	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.71	5.71	0.89031	7.628000	0.82379	7.557000	0.60396	0.594000	0.32500	1.000000	0.71638	1.000000	0.68203	0.064000	0.16252	0.0:1.0:0.0:0.0	17.361	0.87240	895	0.25842	Peptidase M28|M28 Zn-Peptidase Glutaminyl Cyclase;.	.	.	.	.	.	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	3145.98	39	chr19	45702991	.	C	T	3145.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.34;DP=1540;ExcessHet=0.0000;FS=5.522;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.28;ReadPosRankSum=1.96;SOR=0.939	GT:AD:DP:GQ:PL	0/1:154,125:279:99:3160,0,3838	20	0	1	0
chr19	48867602	48867602	G	A	exonic	PLEKHA4	.	nonsynonymous SNV	PLEKHA4:NM_001161354:exon2:c.C19T:p.R7C	.	.	.	.	.	.	.	.	.	.	.	2436048	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.08	T	0.994	D	0.636	P	0.480	N	0.790	D	1.1	L	2.97	T	-0.956	T	0.037	T	0.402	3.409	17.52	-0.379	0.139	0.595	3.143	0.084	0.00700925025364	0.0002	.	0.0003	0	0	0	0	0.0005	0	0	0.0001229	19	154602	rs200342983	0.0003	0.0003	0.0004	0.0003	0.0004	0.0003	0.0003	0.0004	0.0004	5.991e-05	4.822e-05	3.906e-05	0	1.914e-05	0.0002	0.0004	0.0003	0	9.858e-05	9.85e-05	0.0001	6.727e-05	0.0002	6.008e-05	4.881e-05	0.0001	9.899e-05	2.412e-05	0	0	0	0	0	0	0.0002	0	0	0.121	0.28646	T	0.014	0.74150	D	0.994	0.66517	D	0.636	0.51948	P	0.479592	0.12181	N	0.692549	0.790	0.34379	D	1.79	0.46772	L	2.44	0.15145	T	-1.07	0.27876	N	0.53	0.60749	-0.9558	0.39952	T	0.037	0.16116	T	10	0.26882428	0.44403	T	0.007009	0.18567	T	0.084	0.24469	.	.	0.532263770911	0.52874	0.6854135247477745	0.68480	0.96972268499	0.73316	0.487459659576	0.37087	T	0.00695	0.06374	T	-0.389307	0.02718	T	-0.473046	0.25188	T	0.226879615722589	0.21802	T	0.687731	0.55771	T	0.06247556	0.13051	0.05309275	0.08876	0.06247556	0.13051	0.05309275	0.08875	-6.335	0.48999	T	.	.	0.200	0.42346	B	.;.	.;.	3.628795	0.51387	23.1	0.99883416758742771	0.95892	0.41068	0.26576	N	AEFDBI	0.215254	0.34063	N	-0.0588431016705045	0.39207	2.308486	-0.116657363547403	0.34717	2.000265	0.977252050606231	0.29803	0.766844	0.99359	0	0.624146	0.53433	0	0.851219	0.99655	0	0.605231	0.38476	0	.	.	4.8	-0.379	0.11871	0.671000	0.24853	4.872000	0.45577	0.676000	0.76740	0.931000	0.32310	1.000000	0.68203	0.344000	0.25523	0.2181:0.0:0.4253:0.3566	3.143	0.06076	738	0.53389	.;.	.	.	.	.	.	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	1227.98	36	chr19	48867602	.	G	A	1227.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.734;DP=796;ExcessHet=0.0000;FS=1.880;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.74;ReadPosRankSum=1.56;SOR=0.478	GT:AD:DP:GQ:PL	0/1:33,45:78:99:1242,0,800	20	0	1	0
chr19	49152340	49152342	CTC	-	exonic	HRC	.	nonframeshift deletion	HRC:NM_002152:exon3:c.1939_1941del:p.E647del,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.975e-05	0	0.0003	0	0	1.507e-05	0	6.19e-05	3.88e-05	6	154602	rs752602394	1.437e-05	1.505e-05	1.498e-05	1.375e-05	0.0003	9.23e-06	7.84e-06	6.096e-05	2.769e-05	2.987e-05	0.0001	0	0	0	0.0003	8.094e-06	1.656e-05	3.479e-05	1.317e-05	1.314e-05	0	2.696e-05	6.555e-05	2.19e-06	8.2e-07	.	.	2.419e-05	0	6.555e-05	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1382.94	37	chr19	49152339	.	TCTC	T	1382.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.621e+00;DP=818;ExcessHet=0.0000;FS=0.881;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=18.69;ReadPosRankSum=0.320;SOR=0.826	GT:AD:DP:GQ:PL	0/1:38,36:74:99:1397,0,1467	20	0	1	0
chr19	49952338	49952338	C	T	exonic	SIGLEC11	.	nonsynonymous SNV	SIGLEC11:NM_001135163:exon8:c.G1420A:p.A474T	.	.	.	.	.	.	.	.	.	.	.	2227453	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.78	T	0.002	B	0.004	B	0.723	N	1.000	N	-0.825	N	3.94	T	-0.907	T	0.004	T	0.232	-1.273	0.044	-5.47	-0.959	-2.487	5.284	0.011	0.00176978189825	.	.	5.906e-05	0	0	0.0005	0	4.627e-05	0	0	4.53e-05	7	154602	rs767835963	4.387e-05	4.925e-05	5.184e-05	3.581e-05	0.0002	3.515e-05	3.199e-05	0.0001	8.775e-05	0	0	0	0.0002	0	0	4.497e-05	4.969e-05	2.319e-05	2.629e-05	2.627e-05	1.285e-05	4.037e-05	4.411e-05	8.14e-06	5.14e-06	1.171e-05	6.25e-06	2.414e-05	0	0	0	0	0	0	4.411e-05	0	0	1.0	0.00964	T	1.0	0.01155	T	0.0	0.09854	B	0.0	0.10090	B	0.722863	0.06324	N	1.150620	1	0.08975	N	-0.87	0.01450	N	3.94	0.03408	T	1.92	0.00446	N	0.121	0.15328	-0.9072	0.47191	T	0.004	0.01226	T	10	0.022891521	0.00584	T	0.00177	0.03012	T	0.011	0.01250	.	.	0.0297737177859	0.01360	0.10781458558013499	0.10710	0.0110152575662	0.01025	0.353952050209	0.18502	T	0.001191	0.00692	T	-0.571543	0.00217	T	-0.716027	0.04990	T	0.763564348220825	0.44058	D	0.145485	0.02126	T	0.027394747	0.01926	0.052383944	0.08618	0.027394747	0.01925	0.052383944	0.08617	-0.58	0.00866	T	.	.	0.080	0.09433	B	.;.	.;.	-1.512068	0.00288	0.005	0.56225308445197986	0.05507	0.00212	0.01206	N	AEFBI	0.031892	0.03496	N	-1.98469269882474	0.00228	0.009777389	-2.01041389909642	0.00291	0.01285487	0.963774908508222	0.28714	0.554377	0.28877	0	0.547309	0.14657	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	3.21	-5.47	0.02396	-1.857000	0.01752	-20.000000	0.00162	-3.768000	0.00061	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.3937:0.1508:0.4555	5.284	0.15000	693	0.58582	.;.	.	.	.	.	.	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	992.98	38	chr19	49952338	.	C	T	992.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.970;DP=770;ExcessHet=0.0000;FS=0.880;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.07;ReadPosRankSum=0.676;SOR=0.919	GT:AD:DP:GQ:PL	0/1:38,38:76:99:1007,0,921	20	0	1	0
chr19	50328956	50328958	GCT	-	exonic	KCNC3	.	nonframeshift deletion	KCNC3:NM_004977:exon1:c.125_127del:p.Q42del,	Spinocerebellar ataxia 13, Autosomal dominant	.	23	202	0	1	0	2	0.00492611	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1261030059	6.665e-05	0.0003	8.069e-05	5.155e-05	6.669e-05	5.15e-05	4.655e-05	5.082e-05	4.535e-05	0	0	0	0	0.0001	0	6.669e-05	0.0001	5.424e-05	0	6.597e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	37.23	6	chr19	50328955	.	GGCT	G	37.23	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.950e-01;DP=211;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0092;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=2.86;ReadPosRankSum=1.07;SOR=0.330	GT:AD:DP:GQ:PL	0/1:11,2:13:51:51,0,456	20	0	1	0
chr19	50666540	50666540	G	A	exonic	SHANK1	.	nonsynonymous SNV	SHANK1:NM_016148:exon23:c.C5420T:p.P1807L,	.	.	409	1097	15	1	0	17	0.00768883	.	.	729832	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.07	T	0.048	B	0.025	B	0.968	U	1.000	N	1.625	L	1.76	T	-0.995	T	0.060	T	0.083	-0.027	3.874	1.12	1.334	1.080	7.609	0.027	0.0828293383435	.	0.00139776	0.0036	0.0006	0.0062	0	0.0006	0.0052	0.0029	0.0010	0.0019017	294	154602	rs184259943	0.0024	0.0024	0.0024	0.0024	0.0107	0.0023	0.0023	0.0085	0.0077	0.0007	0.0031	0.0061	0	0.0005	0.0107	0.0025	0.0037	0.0010	0.0023	0.0023	0.0023	0.0024	0.0042	0.0021	0.0021	0.0034	0.0031	0.0003	0	0.0042	0.0061	0	0.0004	0.0374	0.0034	0.0038	0.0002	0.043	0.48186	D	0.179	0.45530	T	0.048	0.22112	B	0.025	0.20508	B	0.967967	0.07760	U	1.021450	1	0.08975	N	0	0.06538	N	1.76	0.37230	T	-1.78	0.42001	N	0.111	0.09772	-0.9954	0.31191	T	0.060	0.24981	T	10	0.0060329437	0.00135	T	0.082829	0.73985	D	0.027	0.05988	.	.	0.110392049598	0.10638	0.1295931873921332	0.12884	0.689654936946	0.60494	0.808962166309	0.83333	D	0.057085	0.30467	T	-0.610511	0.00126	T	-0.653098	0.08739	T	0.00458498317523324	0.00049	T	0.818618	0.47714	T	0.066591606	0.14343	0.087204926	0.20255	0.066591606	0.14343	0.087204926	0.20254	-4.549	0.31652	T	.	.	0.105	0.19235	B	.;.;.;.	.;.;.;.	2.577703	0.33415	19.33	0.9346749744651941	0.23258	0.11106	0.16411	N	AEFDBI	0.088616	0.17964	N	-0.719186940304289	0.15483	0.7806701	-0.7729775213659	0.15159	0.7958415	0.204906714060539	0.18169	0.582742	0.33608	0	0.547309	0.14657	0	0.606884	0.38211	0	0.620976	0.48614	0	.	.	2.35	1.12	0.19700	0.290000	0.18731	6.601000	0.56056	0.576000	0.29215	0.000000	0.06391	1.000000	0.68203	0.070000	0.16646	0.0:0.0:0.7494:0.2506	7.609	0.27286	873	0.30802	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	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	1747.11	40	chr19	50666540	.	G	A	1747.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.24;DP=820;ExcessHet=0.1072;FS=0.669;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=14.32;ReadPosRankSum=-1.140e-01;SOR=0.620	GT:AD:DP:GQ:PL	0/1:32,30:62:99:770,0,886	19	0	2	0
chr19	51612348	51612348	T	C	exonic	SIGLEC5	.	nonsynonymous SNV	SIGLEC5:NM_001384708:exon8:c.A1457G:p.K486R,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	1	0.02381	1426.98	33	chr19	51612348	.	T	C	1426.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.323;DP=820;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.34;ReadPosRankSum=1.14;SOR=0.669	GT:AD:DP:GQ:PL	0/1:56,51:107:99:1441,0,1524	20	0	1	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	0/2:66,0,8:74:99:.:.:136,336,3084,0,2748,2724	9	0	1	0
chr19	52415946	52415946	G	A	exonic	ZNF528	.	nonsynonymous SNV	ZNF528:NM_032423:exon7:c.G1094A:p.R365H,	.	.	400	1067	54	1	0	56	0.0255708	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.59	T	0.956	P	0.114	B	.	.	1.000	N	1.25	L	1.54	T	-1.012	T	0.023	T	0.242	-0.066	3.680	-0.657	0.193	-1.075	4.592	0.132	.	0.0062	0.00698882	0.0109	0.0007	0.0039	0	0.0210	0.0096	0.0233	0.0282	0.0098382	1521	154602	rs142156816	0.0085	0.0085	0.0077	0.0093	0.0260	0.0084	0.0083	0.0251	0.0247	0.0014	0.0039	0.0280	2.519e-05	0.0226	0.0258	0.0065	0.0106	0.0260	0.0074	0.0074	0.0064	0.0085	0.0237	0.0071	0.0069	0.0202	0.0188	0.0011	0	0.0042	0.0289	0.0002	0.0231	0.0342	0.0078	0.0081	0.0237	0.176	0.22312	T	0.546	0.09555	T	0.956	0.54666	P	0.114	0.31755	B	.	.	.	.	1	0.08975	N	1.115	0.28702	L	1.54	0.30133	T	0.51	0.02898	N	0.028	0.00618	-1.0120	0.26291	T	0.023	0.09968	T	9	0.004389435	0.00089	T	.	.	.	0.132	0.35948	.	.	.	.	0.015923970449232903	0.01548	0.00915006470918	0.00832	0.254826724529	0.04293	T	0.00476	0.04174	T	-0.595046	0.00156	T	-0.607922	0.12154	T	0.0049661892188208	0.00053	T	0.127587	0.00998	T	0.03501476	0.04041	0.037924096	0.03550	0.03501476	0.04041	0.037924096	0.03549	-4.929	0.36060	T	.	.	0.197	0.41947	B	.	.	1.344308	0.17510	13.21	0.30149128901172884	0.01635	0.04522	0.10151	N	AEFBCI	0.029627	0.02830	N	-0.797295779312745	0.13380	0.6587443	-0.993186387495532	0.09937	0.4973981	9.35688065139829E-6	0.01202	0.638212	0.43195	0	0.588015	0.36545	0	0.658983	0.55881	0	0.668105	0.65232	0	.	.	2.08	-0.657	0.10858	-0.925000	0.04100	.	.	-0.245000	0.07249	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.1644:0.229:0.6066:0.0	4.592	0.11703	988	0.01987	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	0.02381	1106.98	36	chr19	52415946	.	G	A	1106.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.00;DP=874;ExcessHet=0.0000;FS=2.799;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.30;ReadPosRankSum=-1.454e+00;SOR=0.430	GT:AD:DP:GQ:PL	0/1:50,40:90:99:1121,0,1260	20	0	1	0
chr19	53014512	53014512	A	G	exonic	ERVV-1	.	nonsynonymous SNV	ERVV-1:NM_152473:exon1:c.A422G:p.E141G,	.	.	444	1065	13	0	0	13	0.00606626	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0099	0	0	0	.	0.0268	0	0.0023	4.53e-05	7	154602	rs777651938	0.0011	0.0010	0.0011	0.0011	0.0051	0.0011	0.0010	0.0036	0.0031	0.0002	0.0008	0.0133	0	0.0003	0.0051	0.0008	0.0019	0.0010	0.0009	0.0010	0.0008	0.0009	0.0010	0.0008	0.0007	0.0007	0.0006	8.763e-05	0	0.0010	0.0094	0.0003	0.0003	0.0040	0.0009	0.0021	0.0003	.	.	.	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0	0.06538	N	2.08	0.20255	T	.	.	.	0.176	0.18920	.	.	.	.	.	.	.	0.0056152344	0.00124	T	.	.	.	.	.	.	.	0.215109475489	0.21095	0.09033149992206972	0.08966	.	.	0.412083983421	0.26745	T	0.001396	0.00857	T	-0.586905	0.00175	T	-0.651203	0.08870	T	.	.	.	0.466353	0.13696	T	0.09952577	0.23488	0.14127384	0.33649	0.09952577	0.23488	0.14127384	0.33648	-2.368	0.04940	T	.	.	0.087	0.10979	B	.	.	0.923347	0.12983	9.489	0.57340116745435288	0.05748	0.00339	0.01760	N	AEFDGI	0.033478	0.03981	N	.	.	.	.	.	.	4.87272065969077E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	0.235	0.235	0.14697	0.340000	0.19634	.	.	0.403000	0.20566	0.025000	0.20085	0.000000	0.08366	0.011000	0.09372	.	.	.	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	496.98	33	chr19	53014512	.	A	G	496.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.739e+00;DP=723;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=27.00;MQRankSum=0.00;QD=9.74;ReadPosRankSum=0.010;SOR=0.408	GT:AD:DP:GQ:PL	0/1:30,21:51:99:511,0,799	20	0	1	0
chr19	53267316	53267316	G	C	exonic	VN1R4	.	nonsynonymous SNV	VN1R4:NM_173857:exon1:c.C350G:p.A117G,	.	.	429	996	97	0	0	97	0.0464337	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	0.27	B	0.303	B	0.544	N	1.000	N	2.14	M	1.22	T	-0.992	T	0.002	T	0.033	-0.469	1.836	-0.254	0.038	0.522	5.387	0.048	.	0.0745	.	0.0723	0.1661	0.0578	0.1678	0.0343	0.0512	0.0526	0.0748	0.0574507	8882	154602	rs74359534	0.0001	0.0012	0.0001	0.0001	0.0005	0.0001	0.0001	0.0003	0.0002	0.0005	2.243e-05	3.834e-05	0.0003	0.0005	0	8.66e-05	0.0002	0.0002	0.0005	0.0022	0.0004	0.0006	0.0016	0.0004	0.0004	0.0008	0.0007	0.0011	0	0.0002	0.0003	0.0016	0.0002	0	0.0002	0.0005	0.0013	0.022	0.48642	D	0.031	0.53788	D	.	.	.	.	.	.	0.544248	0.05332	N	1.356640	1	0.08975	N	.	.	.	1.22	0.37052	T	-2.67	0.57110	D	0.067	0.03956	-0.9924	0.31985	T	0.002	0.00526	T	10	0.0025487542	0.00039	T	.	.	.	0.048	0.13305	.	.	.	.	0.05313922711391094	0.05255	0.384759530948	0.39774	0.249634504318	0.03729	T	.	.	.	-0.723375	0.00026	T	-0.704733	0.05570	T	0.0342202795027098	0.02675	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.089	0.12084	B	.	.	1.325632	0.17306	13.08	0.87963315563257027	0.17613	0.00907	0.03546	N	AEFGBI	0.029181	0.02709	N	-0.884326474785515	0.11215	0.5400046	-1.06817902281054	0.08332	0.4092313	4.69142761911595E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	2.28	-0.254	0.12350	0.747000	0.25956	.	.	-0.917000	0.02218	0.001000	0.13787	0.000000	0.08366	0.001000	0.02609	0.0:0.4302:0.3517:0.2182	5.387	0.15525	994	0.00715	.	.	.	.	.	.	Benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0.09524	1222.92	63	chr19	53267316	.	G	C	1222.92	.	AC=4;AF=0.095;AN=42;BaseQRankSum=-4.947e+00;DP=1756;ExcessHet=0.6776;FS=0.701;InbreedingCoeff=-0.1053;MLEAC=4;MLEAF=0.095;MQ=51.46;MQRankSum=-9.148e+00;QD=1.35;ReadPosRankSum=1.32;SOR=0.598	GT:AD:DP:GQ:PL	0/1:182,38:220:99:279,0,5475	17	0	4	0
chr19	54337012	54337012	G	C	exonic	LILRA4	.	nonsynonymous SNV	LILRA4:NM_012276:exon6:c.C1084G:p.H362D,	.	.	5	1308	208	1	0	210	0.07431	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.59	T	0.0	B	0.002	B	0.000	N	1.000	N	0.41	N	4.17	T	-0.950	T	0.006	T	0.103	-0.985	0.283	-5.02	-4.799	-7.167	2.137	0.047	0.00132864260766	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.811e-06	0.0096	2.797e-06	2.825e-06	.	6.6e-07	4.4e-07	.	.	0	0	0	0	7.632e-05	0	0	0	0	2.059e-05	0.0042	1.341e-05	2.813e-05	0.0002	5.47e-06	2.52e-06	.	.	2.591e-05	0	0	0	0.0002	0	0	1.515e-05	0	0	0.438	0.09319	T	0.431	0.13673	T	.	.	.	.	.	.	0.000037	0.00348	N	4.946150	1	0.08975	N	.	.	.	4.17	0.02767	T	-0.71	0.20145	N	0.221	0.24758	-0.9501	0.40955	T	0.006	0.01944	T	10	0.062004	0.07861	T	0.001329	0.01885	T	0.047	0.12962	0.626	0.76141	0.0611884634855	0.05136	0.25968181529115286	0.25882	0.104041796668	0.11770	0.278527855873	0.07288	T	.	.	.	-0.360524	0.04100	T	-0.755644	0.03271	T	0.0725965366041935	0.09010	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.087	0.11027	B	.	.	-1.576456	0.00252	0.004	0.34773576372039655	0.02146	0.00354	0.01821	N	AEFDBHCI	0.024273	0.01477	N	-2.30271407116855	0.00045	0.001924218	-2.42840930346014	0.00034	0.001487296	0.999812918144341	0.43459	0.428477	0.06694	0	0.187218	0.04217	2	0.315538	0.05692	2	0.613276	0.41899	0	.	.	2.51	-5.02	0.02759	-6.688000	0.00071	.	.	-2.613000	0.00232	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2159:0.4137:0.1634:0.207	2.137	0.03536	994	0.00715	.	.	.	.	.	.	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	50.98	66	chr19	54337012	.	G	C	50.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=5.32;DP=1838;ExcessHet=0.0000;FS=32.599;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=58.94;MQRankSum=-1.878e+01;QD=0.14;ReadPosRankSum=-4.945e+00;SOR=3.527	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:341,26:367:65:0|1:54336979_C_A:65,0,14240:54336979	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|1:232,111,0:343:99:0|1:54633108_T_G:3944,0,9299,4643,9633,14276:54633108	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	0/1:324,94:418:99:1651,0,9700	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	0/1:231,97,0:328:99:1936,0,7245,2630,7533,10163	6	0	14	0
chr19	54752378	54752378	A	T	exonic	KIR2DL3	.	nonsynonymous SNV	KIR2DL3:NM_015868:exon8:c.A885T:p.E295D,	.	.	438	644	313	127	0	567	0.30566	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.927	P	0.953	D	.	.	1.000	N	1.66	L	7.17	T	-0.907	T	0.003	T	0.251	0.161	4.868	-1.94	-0.713	0.615	4.008	0.053	0.000595427967978	.	.	.	.	.	.	.	.	.	.	0.0002689	7	26028	rs76449138	0.0004	0.0045	0.0003	0.0006	0.0014	0.0004	0.0004	0.0012	0.0011	0.0009	0.0007	0.0004	0.0002	0.0006	0	0.0003	0.0006	0.0014	0.0004	0.0045	0.0004	0.0003	0.0008	0.0003	0.0003	0.0006	0.0005	0.0008	0	0.0004	0.0003	0	0.0003	0	0.0002	0	0.0006	0.017	0.51248	D	0.362	0.16865	T	0.009	0.15093	B	0.013	0.16460	B	.	.	.	.	1	0.08975	N	1.605	0.40863	L	7.17	0.00438	T	-1.3	0.32590	N	0.03	0.00717	-0.9072	0.47191	T	0.003	0.00800	T	9	0.06407854	0.08444	T	5.95E-4	0.00260	T	0.053	0.14996	0.345	0.33950	0.315609569513	0.31162	0.055351736594923893	0.05476	0.156621518827	0.17680	.	.	.	0.006609	0.06037	T	-0.243919	0.14853	T	-0.588149	0.13826	T	0.1719860881567	0.18714	T	.	.	.	0.072928816	0.16260	0.055293426	0.09672	0.072928816	0.16260	0.055293426	0.09672	-5.957	0.45918	T	.	.	0.102	0.17785	B	.	.	0.393611	0.07651	4.319	0.83992659330197972	0.15036	0.00398	0.01994	N	AEFI	0.034546	0.04300	N	-1.14210111889885	0.05910	0.2707387	-1.35039455156555	0.03801	0.1780508	3.36295698448585E-6	0.01202	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.06	-1.94	0.07158	0.608000	0.23921	.	.	0.538000	0.25075	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.3959:0.0:0.0:0.6041	4.008	0.09100	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	0.4	21150.31	340	chr19	54752378	.	A	T	21150.31	.	AC=16;AF=0.400;AN=40;BaseQRankSum=-3.320e+00;DP=5262;ExcessHet=5.2939;FS=0.000;InbreedingCoeff=-0.2512;MLEAC=17;MLEAF=0.425;MQ=55.87;MQRankSum=-1.639e+01;QD=5.39;ReadPosRankSum=2.32;SOR=0.699	GT:AD:DP:GQ:PL	0/1:196,117:313:99:2348,0,5698	6	2	12	1
chr19	54752434	54752434	G	C	exonic	KIR2DL3	.	nonsynonymous SNV	KIR2DL3:NM_015868:exon8:c.G941C:p.R314T,	.	.	440	676	290	116	0	522	0.278549	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06	T	0.137	B	0.073	B	.	.	1.000	N	1.885	L	7.21	T	-0.958	T	0.001	T	0.079	-0.731	0.875	-2.12	-2.428	-1.068	4.380	0.018	0.000504783109797	.	.	9.107e-06	0	0	0	0	1.648e-05	0	0	0	0	26028	rs369659451	0.0001	0.0011	8.786e-05	0.0001	0.0006	0.0001	9.738e-05	0.0005	0.0004	0.0003	0.0001	0	0	0.0002	0.0002	8.061e-05	0.0001	0.0006	0	0.0003	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.005	0.63226	D	0.336	0.18232	T	0.038	0.21002	B	0.013	0.16460	B	.	.	.	.	1	0.08975	N	2.005	0.54552	M	7.21	0.00433	T	-1.76	0.41618	N	0.15	0.15328	-0.9578	0.39589	T	0.001	0.00438	T	9	0.055743694	0.06139	T	5.05E-4	0.00153	T	0.018	0.03083	0.358	0.36060	0.197625483188	0.19356	0.07934385317345088	0.07869	0.381999604534	0.39540	.	.	.	0.008653	0.07927	T	-0.372433	0.03472	T	-0.772751	0.02679	T	0.0711279924993857	0.08808	T	.	.	.	0.058790613	0.11869	0.056505527	0.10109	0.058790613	0.11869	0.056505527	0.10109	-8.83	0.66596	D	.	.	0.103	0.18456	B	.	.	-0.693291	0.01336	0.074	0.50922294396745071	0.04470	0.00271	0.01473	N	AEFI	0.037209	0.05083	N	-1.83575514742651	0.00463	0.01994319	-2.00237195100838	0.00303	0.01337074	0.00114747052574219	0.08272	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.06	-2.12	0.06766	-2.589000	0.00974	.	.	-2.077000	0.00405	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2846:0.2349:0.4805:0.0	4.380	0.10722	970	0.06235	.	.	.	.	.	.	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	28617.15	340	chr19	54752434	.	G	C	28617.15	.	AC=16;AF=0.400;AN=40;BaseQRankSum=-1.210e+00;DP=6144;ExcessHet=5.2939;FS=7.479;InbreedingCoeff=-0.2500;MLEAC=17;MLEAF=0.425;MQ=56.79;MQRankSum=-1.832e+01;QD=6.00;ReadPosRankSum=1.58;SOR=1.014	GT:AD:DP:GQ:PL	0/1:270,119:389:99:3246,0,7667	6	2	12	1
chr19	54752445	54752445	C	T	exonic	KIR2DL3	.	nonsynonymous SNV	KIR2DL3:NM_015868:exon8:c.C952T:p.R318C,	.	.	444	649	317	112	0	541	0.294182	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.12	T	0.006	B	0.003	B	.	.	1.000	N	1.1	L	7.14	T	-0.946	T	0.001	T	0.168	-0.325	2.456	-1.82	-2.219	0.300	4.091	0.046	0.000730226801608	.	.	.	.	.	.	.	.	.	.	.	.	.	rs372921221	7.35e-05	0.0008	5.213e-05	9.518e-05	0.0004	6.171e-05	5.67e-05	0.0003	0.0002	0.0004	0.0001	4.416e-05	2.548e-05	0.0001	0	4.228e-05	3.658e-05	0.0004	0	0.0003	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.021	0.49117	D	0.101	0.38596	T	0.006	0.13644	B	0.002	0.06944	B	.	.	.	.	1	0.08975	N	1.61	0.41143	L	7.14	0.00441	T	-1.73	0.41046	N	0.081	0.05670	-0.9462	0.41615	T	0.001	0.00318	T	9	0.07376027	0.11187	T	7.3E-4	0.00491	T	0.046	0.12618	.	.	0.190952846119	0.18690	0.08507494458604588	0.08441	0.272347824251	0.29747	.	.	.	0.006919	0.06344	T	-0.301136	0.08553	T	-0.670337	0.07586	T	0.0816786993696317	0.10202	T	.	.	.	0.06286794	0.13178	0.048082765	0.07066	0.06286794	0.13177	0.048082765	0.07066	-8.692	0.65693	D	.	.	0.085	0.10159	B	.	.	0.663279	0.10314	7.048	0.77161828724750081	0.11761	0.00606	0.02697	N	AEFI	0.056180	0.10365	N	-1.90787109037655	0.00331	0.01420744	-2.03030551184277	0.00264	0.01165071	5.65618134037242E-5	0.04171	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.909	-1.82	0.07433	-0.238000	0.08995	.	.	-1.505000	0.01024	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2329:0.4799:0.2873:0.0	4.091	0.09446	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	0.4	33791.15	340	chr19	54752445	.	C	T	33791.15	.	AC=16;AF=0.400;AN=40;BaseQRankSum=-2.020e-01;DP=6238;ExcessHet=5.2939;FS=10.711;InbreedingCoeff=-0.2500;MLEAC=17;MLEAF=0.425;MQ=56.95;MQRankSum=-1.853e+01;QD=6.90;ReadPosRankSum=-2.400e-01;SOR=1.298	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:281,120:401:99:.:.:4179,0,11351	6	2	12	1
chr19	54752485	54752485	T	C	exonic	KIR2DL3	.	nonsynonymous SNV	KIR2DL3:NM_015868:exon8:c.T992C:p.I331T,	.	.	458	776	181	107	0	395	0.202876	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	D	0.001	B	0.004	B	.	.	1.000	N	0.74	N	7.07	T	-0.942	T	0.001	T	0.034	-1.003	0.256	-0.268	-0.552	-0.743	3.096	0.014	0.000598353408358	.	.	.	.	.	.	.	.	.	.	.	.	.	rs781524573	5.305e-06	0.0001	4.511e-06	6.112e-06	2.86e-05	2.21e-06	1.42e-06	4.75e-06	1.78e-06	0	0	0	0	5.995e-05	0	1.979e-06	0	2.86e-05	0	0.0003	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.744	0.03653	T	0.196	0.27943	T	0.001	0.07471	B	0.004	0.10090	B	.	.	.	.	1	0.08975	N	1.075	0.27130	L	7.07	0.00449	T	1.38	0.00857	N	0.023	0.00407	-0.9420	0.42298	T	0.001	0.00318	T	9	0.04724872	0.04019	T	5.98E-4	0.00274	T	0.014	0.01968	0.471	0.54537	0.15556083564	0.15200	0.03272981040342714	0.03220	0.11650274929	0.13144	.	.	.	0.002103	0.01509	T	-0.435909	0.01367	T	-0.863929	0.00802	T	0.0462318255409502	0.04826	T	.	.	.	0.029743398	0.02519	0.04760247	0.06891	0.029743398	0.02518	0.04760247	0.06890	-0.729	0.00744	T	.	.	0.056	0.00487	B	.	.	-0.452449	0.02024	0.181	0.28219194255820729	0.01438	0.00196	0.01131	N	AEFI	0.020637	0.00835	N	-1.78857713604755	0.00574	0.02471146	-1.87148925175353	0.00557	0.02469536	2.05976653641204E-6	0.01202	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.909	-0.268	0.12295	-0.692000	0.05228	.	.	-3.068000	0.00129	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.3083:0.394:0.2977	3.096	0.05931	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	0.375	17127.06	73	chr19	54752485	.	T	C	17127.06	.	AC=15;AF=0.375;AN=40;BaseQRankSum=1.81;DP=4524;ExcessHet=3.6553;FS=28.218;InbreedingCoeff=-0.1733;MLEAC=16;MLEAF=0.400;MQ=57.11;MQRankSum=-1.853e+01;QD=4.19;ReadPosRankSum=-2.676e+00;SOR=2.729	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:275,76:351:99:0|1:54752482_T_C:2269,0,11267:54752482	7	2	11	1
chr19	54752511	54752511	G	A	exonic	KIR2DL3	.	nonsynonymous SNV	KIR2DL3:NM_015868:exon8:c.G1018A:p.E340K,	.	.	471	887	74	90	0	254	0.125247	.	.	2330855	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.01	D	0.927	P	0.801	P	.	.	1.000	N	1.7	L	7.23	T	-0.964	T	0.002	T	0.108	-0.217	2.948	-1.82	-2.079	-1.122	6.337	0.023	0.00058277682123	.	.	.	.	.	.	.	.	.	.	.	.	.	rs878939548	6.015e-06	0.0002	4.476e-06	7.577e-06	2.785e-05	2.59e-06	1.87e-06	4.62e-06	1.73e-06	0	0	0	0	3.975e-05	0	3.938e-06	0	2.785e-05	0	0.0002	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.169	0.22920	T	0.141	0.33442	T	0.014	0.16867	B	0.053	0.25678	B	.	.	.	.	1	0.08975	N	1.56	0.39490	L	7.23	0.00430	T	-1.59	0.38345	N	0.036	0.01068	-0.9636	0.38488	T	0.002	0.00707	T	9	0.048668027	0.04349	T	5.83E-4	0.00246	T	0.023	0.04649	0.359	0.36222	0.201204373187	0.19734	0.14158577538071196	0.14081	0.485544564949	0.47430	.	.	.	0.006937	0.06364	T	-0.364647	0.03874	T	-0.761566	0.03056	T	0.472253292798996	0.31613	T	.	.	.	0.035863034	0.04304	0.048440736	0.07194	0.035863034	0.04303	0.048440736	0.07193	-4.19	0.26607	T	.	.	0.087	0.11317	B	.	.	-0.236831	0.02908	0.420	0.60687808817287325	0.06524	0.00049	0.00384	N	AEFI	0.023028	0.01229	N	-1.55887154151576	0.01484	0.06475221	-1.76960007506711	0.00862	0.03850489	6.95773214814763E-5	0.04366	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.909	-1.82	0.07433	-1.609000	0.02169	.	.	-1.067000	0.01603	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.5547:0.0:0.4453:0.0	6.337	0.20509	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	0.275	5860.81	73	chr19	54752511	.	G	A	5860.81	.	AC=11;AF=0.275;AN=40;BaseQRankSum=4.75;DP=3070;ExcessHet=0.4926;FS=36.779;InbreedingCoeff=0.1222;MLEAC=11;MLEAF=0.275;MQ=57.65;MQRankSum=-1.666e+01;QD=2.73;ReadPosRankSum=-1.190e-01;SOR=4.105	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:248,40:288:99:0|1:54752511_G_A:890,0,10213:54752511	11	2	7	1
chr19	54760643	54760643	A	G	exonic	LOC112267881	.	unknown	UNKNOWN,	.	.	418	697	407	0	0	407	0.225986	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1259531898	0.0011	0.0091	0.0010	0.0012	0.0039	0.0011	0.0010	0.0035	0.0034	0.0015	0.0031	0.0054	0.0008	0.0008	0.0022	0.0007	0.0013	0.0039	0.0012	0.0099	0.0011	0.0014	0.0034	0.0011	0.0010	0.0020	0.0016	0.0020	0	0.0023	0.0020	0.0008	0.0010	0.0036	0.0005	0.0010	0.0034	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	0.3095	10320.24	37	chr19	54760643	.	A	G	10320.24	.	AC=13;AF=0.310;AN=42;BaseQRankSum=-3.066e+00;DP=4116;ExcessHet=11.8493;FS=0.000;InbreedingCoeff=-0.4489;MLEAC=13;MLEAF=0.310;MQ=53.53;MQRankSum=-6.940e+00;QD=3.09;ReadPosRankSum=-1.857e+00;SOR=0.586	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:175,36:211:99:0|1:54760643_A_G:985,0,7003:54760643	8	0	13	0
chr19	54760651	54760651	G	C	exonic	LOC112267881	.	unknown	UNKNOWN,	.	.	415	680	427	0	0	427	0.238948	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1341664073	1.26e-05	0.0001	6.969e-06	1.828e-05	0.0002	7.87e-06	6.5e-06	7.234e-05	5.562e-05	0.0002	2.285e-05	0	0	0	0	9.212e-07	0	0.0001	2.732e-05	0.0006	1.334e-05	4.198e-05	0.0001	8.38e-06	5.3e-06	3.332e-05	1.97e-05	0.0001	0	0	0	0	0	0	0	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	0.3095	11917.16	37	chr19	54760651	.	G	C	11917.16	.	AC=13;AF=0.310;AN=42;BaseQRankSum=-3.207e+00;DP=4125;ExcessHet=11.8493;FS=0.785;InbreedingCoeff=-0.4483;MLEAC=13;MLEAF=0.310;MQ=54.02;MQRankSum=-7.539e+00;QD=3.52;ReadPosRankSum=-5.850e-01;SOR=0.589	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:167,45:212:99:0|1:54760643_A_G:1387,0,6873:54760643	8	0	13	0
chr19	54760665	54760665	T	C	exonic	LOC112267881	.	unknown	UNKNOWN,	.	.	418	625	479	0	0	479	0.277039	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1162810689	1.118e-05	5.691e-05	8.35e-06	1.404e-05	0.0002	6.62e-06	5.36e-06	0.0001	8.77e-05	0	2.281e-05	0	0	0	0	0	0	0.0002	0	7.312e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	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	0.3333	14816.48	37	chr19	54760665	.	T	C	14816.48	.	AC=14;AF=0.333;AN=42;BaseQRankSum=-4.128e+00;DP=4120;ExcessHet=14.4320;FS=0.000;InbreedingCoeff=-0.5000;MLEAC=14;MLEAF=0.333;MQ=54.82;MQRankSum=-8.959e+00;QD=3.99;ReadPosRankSum=1.59;SOR=0.675	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:159,54:213:99:0|1:54760643_A_G:1789,0,6512:54760643	7	0	14	0
chr19	54760676	54760676	T	A	exonic	LOC112267881	.	unknown	UNKNOWN,	.	.	427	600	495	0	0	495	0.292035	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1252325157	1.398e-05	8.023e-05	9.746e-06	1.826e-05	0.0002	9.13e-06	7.42e-06	0.0001	0.0001	0	2.283e-05	0	0	0	0	0	1.692e-05	0.0002	0	7.986e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	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	0.3333	15285.48	37	chr19	54760676	.	T	A	15285.48	.	AC=14;AF=0.333;AN=42;BaseQRankSum=-4.658e+00;DP=4024;ExcessHet=14.4320;FS=0.732;InbreedingCoeff=-0.5000;MLEAC=14;MLEAF=0.333;MQ=55.58;MQRankSum=-9.713e+00;QD=4.21;ReadPosRankSum=2.84;SOR=0.642	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:149,57:206:99:0|1:54760643_A_G:1945,0,6085:54760643	7	0	14	0
chr19	54760692	54760692	A	G	exonic	LOC112267881	.	unknown	UNKNOWN,	.	.	419	580	521	2	0	525	0.311573	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1411892976	4.767e-05	0.0002	3.349e-05	6.197e-05	0.0006	3.82e-05	3.496e-05	0.0004	0.0004	0	2.29e-05	0	0	0	0.0002	1.384e-05	6.786e-05	0.0006	0	9.992e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	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	0.3333	15714.52	37	chr19	54760692	.	A	G	15714.52	.	AC=14;AF=0.333;AN=42;BaseQRankSum=-4.369e+00;DP=3836;ExcessHet=14.4320;FS=0.000;InbreedingCoeff=-0.5003;MLEAC=14;MLEAF=0.333;MQ=56.22;MQRankSum=-1.158e+01;QD=4.47;ReadPosRankSum=4.04;SOR=0.607	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:135,57:192:99:0|1:54760643_A_G:1987,0,5469:54760643	7	0	14	0
chr19	54760695	54760695	T	C	exonic	LOC112267881	.	unknown	UNKNOWN,	.	.	420	579	521	2	0	525	0.311943	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1406047822	3.998e-05	0.0001	2.094e-05	5.918e-05	0.0006	3.124e-05	2.853e-05	0.0005	0.0004	0	2.291e-05	0	0	0	0	0	5.092e-05	0.0006	0	9.996e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	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	0.3333	15927.52	37	chr19	54760695	.	T	C	15927.52	.	AC=14;AF=0.333;AN=42;BaseQRankSum=-4.378e+00;DP=3798;ExcessHet=14.4320;FS=0.728;InbreedingCoeff=-0.5003;MLEAC=14;MLEAF=0.333;MQ=56.26;MQRankSum=-1.138e+01;QD=4.62;ReadPosRankSum=4.12;SOR=0.596	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:131,57:188:99:0|1:54760643_A_G:1999,0,5301:54760643	7	0	14	0
chr19	54767313	54767313	G	C	exonic	KIR2DL1;LOC112267881	.	nonsynonymous SNV	KIR2DL1:NM_014218:exon8:c.G992C:p.R331T,	.	.	436	1047	27	12	0	51	0.0237762	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs4020182	1.906e-05	2.713e-05	2.388e-05	1.419e-05	4.618e-05	1.305e-05	1.119e-05	1.508e-05	1.267e-05	0	4.618e-05	0	0	1.907e-05	0	2.23e-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	0.02381	158.98	38	chr19	54767313	.	G	C	158.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-7.830e-01;DP=3500;ExcessHet=0.0000;FS=13.594;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=58.29;MQRankSum=-1.855e+01;QD=0.46;ReadPosRankSum=-1.918e+00;SOR=1.767	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:319,27:346:99:0|1:54767313_G_C:173,0,13307:54767313	20	0	1	0
chr19	54767314	54767314	A	C	exonic	KIR2DL1;LOC112267881	.	nonsynonymous SNV	KIR2DL1:NM_014218:exon8:c.A993C:p.R331S,	.	.	437	1046	27	12	0	51	0.0237984	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs4020183	9.31e-05	0.0054	7.637e-05	0.0001	0.0003	7.988e-05	7.514e-05	0.0002	0.0001	0.0003	0.0003	0.0002	0.0001	0.0001	0.0002	7.38e-05	5.179e-05	0.0001	0.0002	0.0045	0.0002	0.0003	0.0005	0.0002	0.0002	0.0001	9.824e-05	0.0002	0	0.0003	0	0.0002	0	0.0039	0.0002	0.0016	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	0.02381	152.98	38	chr19	54767314	.	A	C	152.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.211;DP=3497;ExcessHet=0.0000;FS=13.540;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=58.29;MQRankSum=-1.861e+01;QD=0.44;ReadPosRankSum=-2.119e+00;SOR=1.771	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:321,27:348:99:0|1:54767313_G_C:167,0,13381:54767313	20	0	1	0
chr19	54767315	54767315	G	A	exonic	KIR2DL1;LOC112267881	.	nonsynonymous SNV	KIR2DL1:NM_014218:exon8:c.G994A:p.V332M,	.	.	436	1047	27	12	0	51	0.0237762	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1339510286	2.758e-05	0.0016	1.97e-05	3.554e-05	0.0001	2.065e-05	1.813e-05	4.488e-05	2.953e-05	6.119e-05	0.0001	8.191e-05	5.081e-05	1.91e-05	0	1.767e-05	3.428e-05	7.226e-05	0.0001	0.0020	6.973e-05	0.0002	0.0005	7.182e-05	5.784e-05	0.0001	6.24e-05	2.598e-05	0	0.0003	0	0.0002	0	0	0.0001	0	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	0.02381	168.98	38	chr19	54767315	.	G	A	168.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.490e-01;DP=3501;ExcessHet=0.0000;FS=11.220;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=58.29;MQRankSum=-1.869e+01;QD=0.48;ReadPosRankSum=-2.287e+00;SOR=1.597	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:323,28:351:99:0|1:54767313_G_C:183,0,13437:54767313	20	0	1	0
chr19	54767322	54767322	C	T	exonic	KIR2DL1;LOC112267881	.	nonsynonymous SNV	KIR2DL1:NM_014218:exon8:c.C1001T:p.T334M,	.	.	436	1034	40	12	0	64	0.0300188	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1274559595	3.256e-05	0.0020	3.239e-05	3.273e-05	0.0002	2.496e-05	2.232e-05	7.519e-05	5.313e-05	0.0001	0.0002	8.218e-05	0.0001	1.911e-05	0	1.768e-05	3.432e-05	8.472e-05	0.0001	0.0028	8.339e-05	0.0002	0.0004	9.419e-05	7.868e-05	0.0001	9.679e-05	2.591e-05	0	0.0004	0	0.0002	0	0	0.0002	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	211.53	38	chr19	54767322	.	C	T	211.53	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.22;DP=3717;ExcessHet=0.1072;FS=5.524;InbreedingCoeff=-0.0399;MLEAC=1;MLEAF=0.024;MQ=58.48;MQRankSum=-1.858e+01;QD=0.21;ReadPosRankSum=-2.022e+00;SOR=1.428	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:318,29:347:99:0|1:54767313_G_C:225,0,13077:54767313	19	0	2	0
chr19	54767339	54767339	G	A	exonic	KIR2DL1;LOC112267881	.	nonsynonymous SNV	KIR2DL1:NM_014218:exon8:c.G1018A:p.E340K,	.	.	437	984	91	10	0	111	0.0533911	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1372790026	1.835e-05	2.225e-05	2.247e-05	1.418e-05	2.535e-05	1.277e-05	1.085e-05	1.422e-05	1.188e-05	0	0	0	2.535e-05	1.906e-05	0	2.136e-05	1.709e-05	0	6.928e-06	6.727e-06	1.348e-05	0	1.538e-05	0	0	.	.	0	0	0	0	0	0	0	1.538e-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	0.07143	866.68	38	chr19	54767339	.	G	A	866.68	.	AC=3;AF=0.071;AN=42;BaseQRankSum=-1.688e+00;DP=4012;ExcessHet=0.3300;FS=2.181;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=58.38;MQRankSum=-1.830e+01;QD=0.65;ReadPosRankSum=-6.090e-01;SOR=0.881	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:300,35:335:99:0|1:54767339_G_A:567,0,12341:54767339	18	0	3	0
chr19	54767342	54767342	T	C	exonic	KIR2DL1;LOC112267881	.	nonsynonymous SNV	KIR2DL1:NM_014218:exon8:c.T1021C:p.S341P,	.	.	439	981	92	10	0	112	0.0540019	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1213695475	0.0003	0.0051	0.0002	0.0003	0.0011	0.0002	0.0002	0.0009	0.0008	0.0004	0.0011	0.0003	0.0003	0.0002	0.0002	0.0002	0.0002	0.0002	0.0005	0.0067	0.0006	0.0004	0.0011	0.0004	0.0004	0.0009	0.0008	0.0011	0.0012	0.0004	0.0003	0	0	0.0037	0.0002	0.0016	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	724.68	38	chr19	54767342	.	T	C	724.68	.	AC=3;AF=0.071;AN=42;BaseQRankSum=-1.300e-02;DP=3993;ExcessHet=0.3300;FS=1.028;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=58.41;MQRankSum=-1.835e+01;QD=0.54;ReadPosRankSum=-6.200e-01;SOR=0.808	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:301,33:334:99:0|1:54767339_G_A:480,0,12410:54767339	18	0	3	0
chr19	54767349	54767349	C	-	exonic	KIR2DL1;LOC112267881	.	frameshift deletion	KIR2DL1:NM_014218:exon8:c.1028delC:p.S343fs,	.	.	439	964	109	10	0	129	0.0627127	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.062e-07	3.477e-06	1.406e-06	0	2.535e-05	0	0	.	.	0	0	0	2.535e-05	0	0	0	0	0	0	6.726e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	834.64	38	chr19	54767348	.	TC	T	834.64	.	AC=3;AF=0.071;AN=42;BaseQRankSum=-9.180e-01;DP=3969;ExcessHet=0.3300;FS=1.030;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=58.38;MQRankSum=-1.822e+01;QD=0.64;ReadPosRankSum=0.322;SOR=0.622	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:295,32:327:99:0|1:54767339_G_A:456,0,12291:54767339	18	0	3	0
chr19	54767352	54767354	AAG	-	exonic	KIR2DL1;LOC112267881	.	nonframeshift deletion	KIR2DL1:NM_014218:exon8:c.1031_1033del:p.344_345del,	.	.	437	959	116	10	0	136	0.0662123	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.118e-06	3.477e-06	2.811e-06	1.419e-06	2.535e-05	5.6e-07	1.6e-07	.	.	0	0	0	2.535e-05	0	0	0	1.709e-05	1.198e-05	0	6.715e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	967.64	38	chr19	54767351	.	AAAG	A	967.64	.	AC=3;AF=0.071;AN=42;BaseQRankSum=-1.515e+00;DP=4059;ExcessHet=0.3300;FS=0.992;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=58.35;MQRankSum=-1.729e+01;QD=0.75;ReadPosRankSum=0.647;SOR=0.531	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:291,32:323:99:0|1:54767339_G_A:468,0,12090:54767339	18	0	3	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	0|2:291,0,32:323:99:0|1:54767339_G_A:468,1344,13530,0,12186,12090:54767339	10	4	5	0
chr19	54773464	54773464	G	C	exonic	KIR2DL1;KIR2DS1;KIR2DS5;LOC112267881	.	nonsynonymous SNV	LOC112267881:NM_001368251:exon3:c.G202C:p.D68H	.	.	425	856	241	0	0	241	0.1234	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.444	B	0.198	B	.	.	1.000	N	1.695	L	2.03	T	-1.006	T	0.041	T	0.396	0.186	5.000	-1.93	-0.374	-0.063	2.604	0.038	0.000804883088689	.	.	.	.	.	.	.	.	.	.	.	.	.	rs745536485	6.26e-06	0.0002	5.539e-06	6.987e-06	2.264e-05	2.95e-06	2.13e-06	3.15e-06	2.28e-06	0	2.264e-05	0	0	0	0	7.325e-06	0	0	0.0001	0.0024	0.0001	0.0001	0.0004	7.39e-05	6.091e-05	8.225e-05	5.802e-05	0.0002	0	0.0002	0	0	0	0	7.634e-05	0	0.0004	0.064	0.38407	T	0.247	0.23914	T	0.444	0.35956	B	0.198	0.36766	B	.	.	.	.	1	0.08975	N	.	.	.	2.03	0.20959	T	-2.52	0.54702	D	0.188	0.25130	-1.0056	0.28277	T	0.041	0.17657	T	9	0.1068652	0.19824	T	8.05E-4	0.00629	T	0.038	0.09825	0.276	0.22845	0.283761946502	0.27984	0.08192545392014942	0.08127	0.476618817085	0.46789	0.428809553385	0.29046	T	0.010046	0.09105	T	-0.210968	0.19242	T	-0.540818	0.18217	T	0.0742162314790902	0.09230	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.126	0.29833	B	.;.	.;.	0.494158	0.08635	5.403	0.86631705629094091	0.16667	0.00709	0.03002	N	AEFDBI	0.050506	0.08834	N	-0.947669841844548	0.09745	0.4625647	-1.15399594513377	0.06696	0.3231991	1.94292267281438E-5	0.02871	0.500041	0.20204	0	0.563428	0.19063	0	0.547309	0.15389	0	0.503917	0.08554	0	.	.	1.24	-1.93	0.07180	-0.459000	0.06805	.	.	-0.401000	0.05297	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2328:0.3114:0.4559:0.0	2.604	0.04579	976	0.04745	Immunoglobulin|Immunoglobulin subtype;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	0.2143	14619.01	48	chr19	54773464	.	G	C	14619.01	.	AC=9;AF=0.214;AN=42;BaseQRankSum=4.28;DP=7976;ExcessHet=4.7172;FS=6.777;InbreedingCoeff=-0.2727;MLEAC=9;MLEAF=0.214;MQ=57.69;MQRankSum=-1.747e+01;QD=2.88;ReadPosRankSum=-1.077e+00;SOR=1.352	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:607,99:706:99:.:.:1741,0,24052	12	0	9	0
chr19	54773510	54773510	C	G	exonic	KIR2DL1;KIR2DS1;KIR2DS5;LOC112267881	.	nonsynonymous SNV	LOC112267881:NM_001368251:exon3:c.C248G:p.A83G	.	.	428	768	326	0	0	326	0.175081	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.1	B	0.33	B	.	.	1.000	N	2.97	M	2.06	T	-0.864	T	0.092	T	0.345	0.514	6.788	0.116	0.106	0.120	3.815	0.067	0.00119558056772	.	.	.	.	.	.	.	.	.	.	.	.	.	rs530076007	0.0001	0.0040	0.0002	0.0001	0.0005	0.0001	0.0001	0.0003	0.0003	0.0005	0.0002	0	2.556e-05	1.91e-05	0	0.0002	0.0001	0.0001	4.77e-05	0.0026	2.662e-05	6.981e-05	0.0002	2.18e-05	1.572e-05	1.992e-05	1.052e-05	7.514e-05	0	0	0	0.0002	0	0	4.565e-05	0	0	0.053	0.40832	T	0.104	0.38160	T	0.1	0.25713	B	0.33	0.42079	B	.	.	.	.	1	0.08975	N	.	.	.	2.06	0.20523	T	-2.38	0.52451	N	0.208	0.23758	-0.8637	0.50995	T	0.092	0.35119	T	9	0.13614216	0.25903	T	0.001196	0.01533	T	0.067	0.19503	0.605	0.73706	0.405150804464	0.40131	0.04592118071307132	0.04536	0.346524564405	0.36559	0.357214689255	0.18980	T	0.045691	0.27199	T	-0.175925	0.24344	T	-0.490481	0.23340	T	0.2225591391325	0.21591	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.138	0.32922	B	.;.	.;.	1.122996	0.15092	11.58	0.93936832440862883	0.23989	0.00979	0.03733	N	AEFDBI	0.047211	0.07926	N	-0.935946201820849	0.10011	0.4763772	-1.14448522620441	0.06868	0.3320446	1.159795150757E-5	0.02871	0.500041	0.20204	0	0.563428	0.19063	0	0.547309	0.15389	0	0.503917	0.08554	0	.	.	1.24	0.116	0.13953	0.259000	0.18174	.	.	-0.444000	0.05162	0.004000	0.16614	0.000000	0.08366	0.001000	0.02609	0.0:0.7435:0.0:0.2565	3.815	0.08327	976	0.04745	Immunoglobulin|Immunoglobulin subtype;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	0.2143	25978.01	48	chr19	54773510	.	C	G	25978.01	.	AC=9;AF=0.214;AN=42;BaseQRankSum=-1.190e+00;DP=8922;ExcessHet=4.7172;FS=3.446;InbreedingCoeff=-0.2727;MLEAC=9;MLEAF=0.214;MQ=57.57;MQRankSum=-2.189e+01;QD=4.42;ReadPosRankSum=1.88;SOR=1.040	GT:AD:DP:GQ:PL	0/1:649,126:775:99:3319,0,20938	12	0	9	0
chr19	54775425	54775425	A	G	exonic	KIR2DL1;KIR2DS1;KIR2DS5;LOC112267881	.	nonsynonymous SNV	LOC112267881:NM_001368251:exon4:c.A631G:p.K211E	.	.	424	1013	85	0	0	85	0.0402653	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.0	B	0.002	B	.	.	1.000	N	0.49	N	5.87	T	-0.847	T	0.002	T	0.263	-1.490	0.017	-2.21	-4.826	-0.493	2.064	0.059	0.000592734597817	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1160831907	0	1.383e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.65419	D	0.554	0.09298	T	0.0	0.02946	B	0.002	0.06944	B	.	.	.	.	1	0.08975	N	.	.	.	5.87	0.00635	T	1.39	0.00857	N	0.07	0.05037	-0.8467	0.52195	T	0.002	0.00615	T	9	0.028063536	0.00943	T	5.93E-4	0.00260	T	0.059	0.16972	0.323	0.30387	0.16115917748	0.15686	0.029241745084215797	0.02873	2.21200435668	0.95776	0.31968459487	0.13373	T	4.12E-4	0.00135	T	-0.28523	0.10121	T	-0.647489	0.09131	T	0.0937598886220576	0.11657	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.073	0.11414	B	.;.	.;.	0.318454	0.06933	3.475	0.20862290473268763	0.00769	0.00019	0.00214	N	AEFBI	0.018778	0.00597	N	-2.32359019538145	0.00040	0.001725136	-2.43884286613337	0.00032	0.001406827	0.936798265882266	0.27269	0.487112	0.14033	0	0.563428	0.19063	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	1.1	-2.21	0.06581	-0.210000	0.09349	.	.	-1.332000	0.01214	0.006000	0.17386	0.000000	0.08366	0.000000	0.00833	0.1649:0.2413:0.4377:0.1561	2.064	0.03380	976	0.04745	Immunoglobulin|Immunoglobulin subtype;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	0.09524	1586.96	39	chr19	54775425	.	A	G	1586.96	.	AC=4;AF=0.095;AN=42;BaseQRankSum=2.62;DP=5430;ExcessHet=0.6776;FS=5.399;InbreedingCoeff=-0.1039;MLEAC=4;MLEAF=0.095;MQ=56.79;MQRankSum=-9.969e+00;QD=0.97;ReadPosRankSum=0.585;SOR=0.718	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:522,44:566:99:0|1:54775425_A_G:276,0,21786:54775425	17	0	4	0
chr19	54775427	54775427	G	C	exonic	KIR2DL1;KIR2DS1;KIR2DS5;LOC112267881	.	nonsynonymous SNV	LOC112267881:NM_001368251:exon4:c.G633C:p.K211N	.	.	424	1013	85	0	0	85	0.0402653	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.0	B	0.0	B	.	.	1.000	N	-0.46	N	5.73	T	-0.937	T	0.001	T	0.203	-1.489	0.017	-6.75E-4	-0.370	-0.102	2.428	0.014	0.001147116708	.	.	8.585e-06	0.0001	0	0	0	0	0	0	.	.	.	rs753170536	2.16e-05	0.0002	1.941e-05	2.38e-05	4.687e-05	1.548e-05	1.349e-05	1.594e-05	1.051e-05	3.01e-05	4.543e-05	0	0	1.904e-05	0	1.927e-05	3.37e-05	4.687e-05	3.365e-05	0.0001	5.26e-05	1.378e-05	9.802e-05	1.284e-05	8.15e-06	3.284e-05	1.938e-05	9.802e-05	0	0	0	0	0	0	1.511e-05	0	0	1.0	0.00964	T	0.573	0.08715	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	.	.	.	5.73	0.00718	T	1.38	0.00857	N	0.059	0.04426	-0.9366	0.43149	T	0.001	0.00378	T	9	0.023357421	0.00609	T	0.001147	0.01434	T	0.014	0.01968	0.35	0.34760	0.12205267543	0.11705	0.03264276369458457	0.03212	1.93871876743	0.93220	0.327257335186	0.14520	T	0.001399	0.00865	T	-0.474619	0.00796	T	-0.734262	0.04137	T	0.0274483388068723	0.01609	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.065	0.08754	B	.;.	.;.	0.327897	0.07020	3.580	0.21825878329223575	0.00850	0.00013	0.00170	N	AEFBI	0.013717	0.00192	N	-1.7759001691404	0.00606	0.0261499	-1.79421127190689	0.00778	0.03469607	1.85822177357133E-6	0.01202	0.487112	0.14033	0	0.563428	0.19063	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	1.1	-6.75E-4	0.13359	-0.508000	0.06426	.	.	-1.225000	0.01333	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.4246:0.3291:0.2463	2.428	0.04193	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|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	0.09524	1828.11	39	chr19	54775427	.	G	C	1828.11	.	AC=4;AF=0.095;AN=42;BaseQRankSum=2.30;DP=5424;ExcessHet=0.6776;FS=7.082;InbreedingCoeff=-0.1085;MLEAC=4;MLEAF=0.095;MQ=56.78;MQRankSum=-1.042e+01;QD=1.12;ReadPosRankSum=0.317;SOR=0.733	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:514,47:561:99:0|1:54775425_A_G:414,0,21420:54775425	17	0	4	0
chr19	54775428	54775428	T	C	exonic	KIR2DL1;KIR2DS1;KIR2DS5;LOC112267881	.	nonsynonymous SNV	LOC112267881:NM_001368251:exon4:c.T634C:p.S212P	.	.	426	994	102	0	0	102	0.0488038	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.93	T	0.002	B	0.0	B	.	.	1.000	N	-1.22	N	5.92	T	-0.954	T	0.001	T	0.297	-2.721	0	-0.052	-0.373	-0.293	5.420	0.041	0.00119730649929	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1219946054	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.693	0.04643	T	1.0	0.01155	T	0.002	0.09854	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	.	.	.	5.92	0.00621	T	4.32	0.00042	N	0.054	0.03841	-0.9543	0.40221	T	0.001	0.00318	T	9	0.048239112	0.04248	T	0.001197	0.01558	T	0.041	0.10877	0.381	0.39807	0.124217242631	0.12060	0.09862332896415132	0.09793	3.5385108973	0.99787	0.337671220303	0.16090	T	0.020959	0.16408	T	-0.296781	0.08966	T	-0.664082	0.07993	T	0.037209109262974	0.03193	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.052	0.00234	B	.;.	.;.	-0.377649	0.02298	0.242	0.20061086774987852	0.00705	0.00014	0.00181	N	AEFBI	0.017768	0.00489	N	-2.16889315936069	0.00090	0.003848594	-2.13850442775353	0.00153	0.006750525	1.85327816143771E-6	0.01202	0.487112	0.14033	0	0.563428	0.19063	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	1.1	-0.0517	0.13155	0.152000	0.16120	.	.	-2.805000	0.00184	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.7488:0.0:0.2512	5.420	0.15691	976	0.04745	Immunoglobulin|Immunoglobulin subtype;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	0.09524	1833.97	39	chr19	54775428	.	T	C	1833.97	.	AC=4;AF=0.095;AN=42;BaseQRankSum=3.00;DP=5430;ExcessHet=0.6776;FS=7.082;InbreedingCoeff=-0.1062;MLEAC=4;MLEAF=0.095;MQ=56.76;MQRankSum=-1.055e+01;QD=1.12;ReadPosRankSum=0.195;SOR=0.749	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:518,47:565:99:0|1:54775425_A_G:402,0,21490:54775425	17	0	4	0
chr19	54804844	54804844	A	G	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon3:c.A128G:p.Q43R	.	.	401	1030	89	2	0	93	0.0431955	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.13	T	0.006	B	0.024	B	0.135	U	1.000	N	0.395	N	2.65	T	-1.000	T	0.021	T	0.122	-0.252	2.787	-1.57	-0.635	-1.621	2.076	0.004	0.00113660302036	.	.	.	.	.	.	.	.	.	.	0.0003074	8	26028	rs867586202	1.369e-06	2.737e-06	0	2.752e-06	2.995e-05	2.3e-07	9e-08	.	.	2.995e-05	0	0	0	0	0	0	0	1.164e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.171	0.23997	T	0.596	0.08052	T	0.005	0.12996	B	0.004	0.14941	B	0.135009	0.02839	U	2.391850	1	0.08975	N	0.575	0.15311	N	2.65	0.12676	T	-1.42	0.38540	N	0.098	0.10769	-1.0000	0.29917	T	0.021	0.08778	T	10	0.07379338	0.11196	T	0.001137	0.01410	T	0.004	0.00165	.	.	0.117191471859	0.11215	0.2764269249833639	0.27555	1.63837144597	0.89330	.	.	.	.	.	.	-0.375957	0.03303	T	-0.777812	0.02520	T	0.0943192406486319	0.11720	T	.	.	.	.	.	.	.	.	.	.	.	-6.927	0.54645	T	.	.	0.067	0.04002	B	.;.;.;.	.;.;.;.	-1.101816	0.00638	0.017	0.44240031913180755	0.03387	0.00284	0.01530	N	AEFDBI	0.054807	0.09996	N	-1.5917883983119	0.01306	0.05686907	-1.68956066485271	0.01184	0.05329264	2.77527207762171E-6	0.01202	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.14	-1.57	0.08055	-2.911000	0.00765	.	.	-4.062000	0.00044	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.404:0.3002:0.0:0.2958	2.076	0.03404	976	0.04745	Immunoglobulin|Immunoglobulin subtype;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	0.119	513.42	37	chr19	54804844	.	A	G	513.42	.	AC=5;AF=0.119;AN=42;BaseQRankSum=-5.090e-01;DP=1526;ExcessHet=1.1607;FS=2.426;InbreedingCoeff=-0.1348;MLEAC=5;MLEAF=0.119;MQ=59.00;MQRankSum=-1.152e+01;QD=0.68;ReadPosRankSum=-8.850e-01;SOR=1.158	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:77,12:89:99:0|1:54804844_A_G:272,0,3136:54804844	16	0	5	0
chr19	54804865	54804865	G	T	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon3:c.G149T:p.R50L	.	.	399	1022	98	3	0	104	0.0484171	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.14	T	0.018	B	0.055	B	0.007	U	1.000	N	0.995	L	2.62	T	-0.999	T	0.029	T	0.188	0.031	4.173	-2.81	-1.080	-0.485	5.745	0.028	0.0010606096064	.	.	.	.	.	.	.	.	.	.	0.0001537	4	26028	rs377230503	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	6.578e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.129	0.26852	T	0.099	0.43344	T	0.001	0.17573	B	0.009	0.25828	B	0.006549	0.01130	U	4.963860	1	0.08975	N	0.87	0.21467	L	2.62	0.12988	T	-3.67	0.70553	D	0.243	0.32259	-0.9992	0.30143	T	0.029	0.12453	T	10	0.2224595	0.38999	T	0.001061	0.01215	T	0.028	0.06331	.	.	0.110392049598	0.10638	0.28005680441547837	0.27918	1.86795582778	0.92482	.	.	.	.	.	.	-0.326378	0.06390	T	-0.706596	0.05473	T	0.0639145414373501	0.07769	T	.	.	.	.	.	.	.	.	.	.	.	-8.044	0.61370	D	.	.	0.138	0.32756	B	.;.;.;.	.;.;.;.	0.035535	0.04534	1.227	0.73877348709050461	0.10488	0.00388	0.01954	N	AEFDBI	0.065265	0.12721	N	-1.54790257383302	0.01547	0.06756762	-1.67935926748713	0.01231	0.05548239	8.43516041031511E-6	0.01202	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.41	-2.81	0.05459	-0.685000	0.05269	.	.	-3.641000	0.00069	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.6012:0.0:0.3988:0.0	5.745	0.17382	976	0.04745	Immunoglobulin|Immunoglobulin subtype;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	0.1429	719.03	37	chr19	54804865	.	G	T	719.03	.	AC=6;AF=0.143;AN=42;BaseQRankSum=2.45;DP=1630;ExcessHet=1.7912;FS=7.115;InbreedingCoeff=-0.1667;MLEAC=6;MLEAF=0.143;MQ=58.85;MQRankSum=-1.237e+01;QD=0.67;ReadPosRankSum=1.33;SOR=1.603	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:83,13:96:99:0|1:54804844_A_G:296,0,3446:54804844	15	0	6	0
chr19	54804871	54804871	A	G	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon3:c.A155G:p.H52R	.	.	410	1016	93	3	0	99	0.0464571	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.64	T	0.016	B	0.014	B	.	.	1.000	N	-0.165	N	2.75	T	-0.922	T	0.011	T	0.325	-2.184	0.005	1.42	0.897	-0.253	4.935	0.050	0.000703869014878	.	.	.	.	.	.	.	.	.	.	.	.	.	rs752329065	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.314e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.992	0.03949	T	0.621	0.07419	T	0.003	0.12996	B	0.005	0.11217	B	.	.	.	.	1	0.08975	N	0.17	0.09006	N	2.75	0.11622	T	-3.37	0.67477	D	0.076	0.06059	-0.9219	0.45293	T	0.011	0.04321	T	9	0.061050594	0.07594	T	7.04E-4	0.00435	T	0.050	0.13987	.	.	0.305252298933	0.30134	0.14574877287000448	0.14497	1.80914359211	0.91782	.	.	.	.	.	.	-0.282495	0.10405	T	-0.643561	0.09412	T	0.0325404564850766	0.02395	T	.	.	.	.	.	.	.	.	.	.	.	-6.886	0.53196	T	.	.	0.100	0.18746	B	.;.;.;.	.;.;.;.	0.039253	0.04558	1.245	0.55635480641941515	0.05383	0.00516	0.02410	N	AEFDBI	0.041908	0.06434	N	-1.27066159650474	0.04033	0.1813008	-1.2984096394167	0.04452	0.2100502	3.65028250344946E-6	0.01202	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.42	1.42	0.21524	-0.504000	0.06456	.	.	-0.282000	0.06404	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	1.0:0.0:0.0:0.0	4.935	0.13288	976	0.04745	Immunoglobulin|Immunoglobulin subtype;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	0.1429	605.02	37	chr19	54804871	.	A	G	605.02	.	AC=6;AF=0.143;AN=42;BaseQRankSum=0.129;DP=1668;ExcessHet=1.7912;FS=5.545;InbreedingCoeff=-0.1665;MLEAC=6;MLEAF=0.143;MQ=58.89;MQRankSum=-1.263e+01;QD=0.54;ReadPosRankSum=1.81;SOR=1.658	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:86,13:99:99:0|1:54804844_A_G:287,0,3572:54804844	15	0	6	0
chr19	54804874	54804874	A	C	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon3:c.A158C:p.Y53S	.	.	418	512	448	92	52	684	0.381643	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.009	B	0.008	B	.	.	1.000	N	-1.815	N	2.81	T	-0.959	T	0.005	T	0.163	-2.574	0.003	-2.83	-0.824	-0.505	4.673	0.064	0.00123731148339	.	.	.	.	.	.	.	.	.	.	.	.	.	rs618835	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	1.0	0.03314	T	0.009	0.15093	B	0.001	0.04355	B	.	.	.	.	1	0.08975	N	-2.005	0.00192	N	2.81	0.10975	T	-0.12	0.17003	N	0.094	0.07398	-0.9592	0.39330	T	0.005	0.01688	T	9	0.038850784	0.02333	T	0.001237	0.01658	T	0.064	0.18567	.	.	0.0934897674506	0.08844	0.30959537037651635	0.30872	2.03392677507	0.94150	.	.	.	.	.	.	-0.349958	0.04730	T	-0.740467	0.03871	T	0.0372104795728204	0.03193	T	.	.	.	.	.	.	.	.	.	.	.	-4.582	0.31945	T	.	.	0.096	0.15385	B	.;.;.;.	.;.;.;.	-1.038539	0.00718	0.021	0.36897408776256096	0.02400	0.00044	0.00357	N	AEFDBI	0.024914	0.01621	N	-2.04652454016145	0.00168	0.00718835	-2.03550390589525	0.00257	0.01134907	6.47260531587824E-6	0.01202	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.42	-2.83	0.05425	-1.100000	0.03450	.	.	-3.205000	0.00110	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2532:0.5344:0.2124:0.0	4.673	0.12084	976	0.04745	Immunoglobulin|Immunoglobulin subtype;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	0.3333	33079.42	37	chr19	54804874	.	A	G,C	33079.42	.	AC=12,3;AF=0.286,0.071;AN=42;BaseQRankSum=1.71;DP=3078;ExcessHet=3.1640;FS=0.523;InbreedingCoeff=-0.1340;MLEAC=12,3;MLEAF=0.286,0.071;MQ=59.39;MQRankSum=-3.020e+00;QD=12.12;ReadPosRankSum=0.071;SOR=0.742	GT:AD:DP:GQ:PGT:PID:PL:PS	1/2:0,84,13:97:99:.:.:2939,536,284,2586,0,3614	8	1	9	0
chr19	54804880	54804880	G	T	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon3:c.G164T:p.R55L	.	.	409	1018	92	3	0	98	0.0459231	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.63	T	0.001	B	0.003	B	0.331	N	1.000	N	-0.67	N	5.87	T	-0.912	T	0.001	T	0.153	-2.839	0	-2.83	-4.059	-2.987	0.680	0.011	0.000590234751616	.	.	.	.	.	.	.	.	.	.	.	.	.	rs200970576	6.845e-07	2.052e-06	1.362e-06	0	8.995e-07	0	0	.	.	0	0	0	0	0	0	8.995e-07	0	0	0	1.971e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.0	0.91255	D	0.707	0.14075	T	0.0	0.02946	B	0.003	0.08700	B	0.330964	0.04130	N	1.871750	1	0.08975	N	-0.59	0.02258	N	2.55	0.13795	T	-5.64	0.86914	D	0.096	0.07673	-0.9120	0.46607	T	0.001	0.00408	T	10	0.036497056	0.01952	T	5.9E-4	0.00260	T	0.011	0.01250	.	.	0.043077524339	0.03247	0.18736213989536712	0.18654	1.8200784132	0.91936	.	.	.	.	.	.	-0.317922	0.07070	T	-0.69445	0.06134	T	0.176434934139252	0.19007	T	.	.	.	.	.	.	.	.	.	.	.	-3.794	0.20715	T	.	.	0.105	0.22391	B	.;.;.;.	.;.;.;.	-2.096588	0.00081	0.001	0.52377389892480175	0.04736	0.00034	0.00302	N	AEFDBI	0.026426	0.01982	N	-2.4206702032517	0.00024	0.001049992	-2.48006166947468	0.00026	0.001135847	0.181087630750471	0.17872	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.42	-2.83	0.05425	-4.363000	0.00281	.	.	-4.734000	0.00021	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.3206:0.1414:0.3286:0.2094	0.680	0.00818	976	0.04745	Immunoglobulin|Immunoglobulin subtype;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	0.119	464.49	37	chr19	54804880	.	G	T	464.49	.	AC=5;AF=0.119;AN=42;BaseQRankSum=2.66;DP=2756;ExcessHet=1.1607;FS=5.535;InbreedingCoeff=-0.1357;MLEAC=5;MLEAF=0.119;MQ=58.94;MQRankSum=-1.298e+01;QD=0.50;ReadPosRankSum=2.90;SOR=1.647	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:92,13:105:99:0|1:54804844_A_G:269,0,3824:54804844	16	0	5	0
chr19	54804889	54804889	A	C	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon3:c.A173C:p.N58T	.	.	410	1009	100	3	0	106	0.0499058	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.15	T	0.001	B	0.005	B	0.568	U	1.000	N	0.865	L	2.81	T	-0.967	T	0.015	T	0.067	-0.363	2.287	-2.83	-1.188	-0.877	0.111	0.083	0.00160012747995	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1252008475	0	1.368e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	1.972e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.28	0.17643	T	0.421	0.18395	T	0.0	0.02946	B	0.004	0.10090	B	0.568075	0.11267	U	0.710467	1	0.08975	N	1.085	0.27262	L	2.81	0.10975	T	-1.31	0.33798	N	0.161	0.16864	-0.9669	0.37834	T	0.015	0.06090	T	10	0.07299557	0.10970	T	0.002	0.02574	T	0.083	0.24192	.	.	0.168254554758	0.16434	0.1070846243563384	0.10638	1.5630790888	0.88064	.	.	.	.	.	.	-0.408466	0.02035	T	-0.824509	0.01363	T	0.146632224321365	0.16832	T	.	.	.	.	.	.	.	.	.	.	.	-6.799	0.52552	T	.	.	0.159	0.35849	B	.;.;.;.	.;.;.;.	-0.436821	0.02079	0.193	0.48969850087904854	0.04130	0.00254	0.01397	N	AEFDBI	0.042854	0.06702	N	-1.61109278381861	0.01210	0.05261721	-1.73396012362405	0.00995	0.04459112	9.2797908283636E-6	0.01202	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.42	-2.83	0.05425	-1.660000	0.02075	.	.	-3.494000	0.00081	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.3389:0.242:0.1805:0.2386	0.111	0.00052	976	0.04745	Immunoglobulin|Immunoglobulin subtype;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	0.119	446.36	37	chr19	54804889	.	A	C	446.36	.	AC=5;AF=0.119;AN=42;BaseQRankSum=0.433;DP=2783;ExcessHet=1.1607;FS=5.552;InbreedingCoeff=-0.1320;MLEAC=5;MLEAF=0.119;MQ=58.94;MQRankSum=-1.310e+01;QD=0.47;ReadPosRankSum=3.56;SOR=1.693	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:93,14:107:99:0|1:54804844_A_G:308,0,3863:54804844	16	0	5	0
chr19	54804898	54804898	C	G	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon3:c.C182G:p.T61R	.	.	407	1007	105	3	0	111	0.0522353	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	0.879	P	0.624	P	0.370	N	1.000	N	0.82	L	2.61	T	-1.047	T	0.034	T	0.121	-1.268	0.045	-2.83	-2.561	-4.420	4.699	0.004	0.000577800184532	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1347429978	0	1.368e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	1.973e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.156	0.30235	T	0.417	0.14241	T	0.008	0.14655	B	0.014	0.16862	B	0.370126	0.04357	N	1.761550	1	0.08975	N	0.19	0.09125	N	2.61	0.13095	T	-0.99	0.33798	N	0.166	0.17553	-1.0466	0.15361	T	0.034	0.14726	T	10	0.06646973	0.09122	T	5.78E-4	0.00246	T	0.004	0.00165	.	.	0.123314135267	0.11883	0.2663305671272793	0.26546	1.74321032565	0.90897	.	.	.	.	.	.	-0.374164	0.03389	T	-0.775237	0.02600	T	0.172755304063972	0.18765	T	.	.	.	.	.	.	.	.	.	.	.	-4.633	0.32583	T	.	.	0.133	0.28807	B	.;.;.;.	.;.;.;.	-1.551279	0.00265	0.004	0.59469541163751893	0.06232	0.00075	0.00520	N	AEFDBI	0.026301	0.01950	N	-1.68316153543223	0.00903	0.03908699	-1.84995237698743	0.00612	0.0271986	3.44450744240821E-4	0.06626	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.42	-2.83	0.05425	-5.169000	0.00171	.	.	-4.106000	0.00042	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2563:0.3734:0.3703:0.0	4.699	0.12201	976	0.04745	Immunoglobulin|Immunoglobulin subtype;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	0.1429	783.55	37	chr19	54804898	.	C	G	783.55	.	AC=6;AF=0.143;AN=42;BaseQRankSum=2.74;DP=2825;ExcessHet=1.7912;FS=7.378;InbreedingCoeff=-0.1525;MLEAC=5;MLEAF=0.119;MQ=58.83;MQRankSum=-1.325e+01;QD=0.63;ReadPosRankSum=3.30;SOR=1.817	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:95,16:111:99:0|1:54804844_A_G:386,0,3941:54804844	15	0	6	0
chr19	54804909	54804909	A	G	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon3:c.A193G:p.K65E	.	.	408	993	118	3	0	124	0.0587678	.	.	2687379	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	1	T	0.002	B	0.004	B	0.812	N	1.000	N	-2.29	N	6.0	T	-0.932	T	0.001	T	0.074	-2.172	0.005	-1.41	-0.207	0.049	3.979	0.028	0.000710582739585	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1433721372	2.738e-06	4.105e-06	0	5.504e-06	2.237e-05	6.4e-07	4.3e-07	3e-07	1.1e-07	0	2.237e-05	3.843e-05	0	0	0	1.799e-06	0	0	1.988e-05	4.605e-05	1.295e-05	2.717e-05	0.0001	5.29e-06	2.47e-06	2.279e-05	9.14e-06	0	0	0.0001	0	0	0	0	0	0.0005	0	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.002	0.06944	B	0.812499	0.09241	N	0.855387	1	0.08975	N	-2.415	0.00072	N	6.0	0.00603	T	1.89	0.00694	N	0.066	0.07262	-0.9319	0.43859	T	0.001	0.00188	T	10	0.020792723	0.00485	T	7.11E-4	0.00454	T	0.028	0.06331	.	.	0.102598925029	0.09809	0.08210962773506171	0.08145	2.0043789819	0.93871	.	.	.	.	.	.	-0.398459	0.02370	T	-0.810135	0.01662	T	0.0787104400289306	0.09821	T	.	.	.	.	.	.	.	.	.	.	.	1.118	0.00118	T	.	.	0.052	0.01449	B	.;.;.;.	.;.;.;.	-0.896903	0.00931	0.035	0.38092024155450582	0.02549	0.00009	0.00143	N	AEFBI	0.020365	0.00798	N	-1.95943119732616	0.00258	0.01107597	-1.91051840260318	0.00467	0.02066344	2.13546506143977E-6	0.01202	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.42	-1.41	0.08473	0.022000	0.13402	.	.	-1.236000	0.01320	0.005000	0.17040	0.000000	0.08366	0.000000	0.00833	0.4688:0.0:0.5312:0.0	3.979	0.08979	976	0.04745	Immunoglobulin|Immunoglobulin subtype;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	0.1429	1459.03	37	chr19	54804909	.	A	G	1459.03	.	AC=6;AF=0.143;AN=42;BaseQRankSum=2.63;DP=2839;ExcessHet=1.7912;FS=11.097;InbreedingCoeff=-0.1667;MLEAC=6;MLEAF=0.143;MQ=58.65;MQRankSum=-1.377e+01;QD=1.16;ReadPosRankSum=1.42;SOR=1.896	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:97,18:115:99:0|1:54804844_A_G:464,0,4019:54804844	15	0	6	0
chr19	54804943	54804943	G	A	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon3:c.G227A:p.R76K	.	.	415	972	132	3	0	138	0.0662824	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.18	T	0.0	B	0.003	B	0.590	N	1.000	N	1.44	L	2.74	T	-0.969	T	0.025	T	0.171	-0.507	1.679	-2.83	-0.790	-3.738	0.540	0.022	0.000742101611331	.	.	.	.	.	.	.	.	.	.	0.0001153	3	26028	rs1258790404	0	4.105e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	3.948e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.706	0.15201	T	0.895	0.03223	T	0.0	0.02946	B	0.001	0.08700	B	0.590161	0.05587	N	1.384300	1	0.08975	N	1.445	0.36358	L	2.74	0.11730	T	-0.98	0.27259	N	0.051	0.07535	-0.9692	0.37366	T	0.025	0.10733	T	10	0.066293925	0.09070	T	7.42E-4	0.00510	T	0.022	0.04323	.	.	0.143184338766	0.13958	0.10200965388074774	0.10131	1.54987763219	0.87883	.	.	.	.	.	.	-0.328421	0.06231	T	-0.70953	0.05319	T	0.0564412906346426	0.06597	T	.	.	.	.	.	.	.	.	.	.	.	-7.075	0.54580	T	.	.	0.117	0.27968	B	.;.;.;.	.;.;.;.	-0.709399	0.01299	0.070	0.67373079492482224	0.08335	0.00141	0.00861	N	AEFBI	0.044050	0.07041	N	-1.32507690532281	0.03391	0.1513701	-1.48749976679391	0.02446	0.1125302	6.30285219020309E-6	0.01202	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.42	-2.83	0.05425	-1.506000	0.02375	.	.	-0.368000	0.05462	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1859:0.238:0.3354:0.2407	0.540	0.00600	976	0.04745	Immunoglobulin|Immunoglobulin subtype;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	0.1429	2793.02	37	chr19	54804943	.	G	A	2793.02	.	AC=6;AF=0.143;AN=42;BaseQRankSum=1.64;DP=2966;ExcessHet=1.7912;FS=4.369;InbreedingCoeff=-0.1666;MLEAC=6;MLEAF=0.143;MQ=58.46;MQRankSum=-1.419e+01;QD=2.03;ReadPosRankSum=-1.957e+00;SOR=1.396	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:108,22:130:99:0|1:54804844_A_G:599,0,4469:54804844	15	0	6	0
chr19	54804956	54804956	C	G	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon3:c.C240G:p.N80K	.	.	414	957	149	2	0	153	0.0740203	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.17	T	0.005	B	0.011	B	.	.	1.000	N	0.255	N	5.79	T	-0.943	T	0.002	T	0.052	-1.471	0.018	-2.83	-0.914	-2.611	4.378	0.003	0.000820155030123	.	.	3.423e-05	0.0003	0	0	0	0	0	0	.	.	.	rs762567496	6.845e-07	4.789e-06	1.362e-06	0	2.995e-05	0	0	.	.	2.995e-05	0	0	0	0	0	0	0	0	1.99e-05	0.0001	2.59e-05	1.36e-05	7.371e-05	5.29e-06	2.47e-06	1.954e-05	1.042e-05	7.371e-05	0	0	0	0	0	0	0	0	0	0.412	0.13699	T	0.845	0.05146	T	0.001	0.07471	B	0.004	0.10090	B	.	.	.	.	1	0.08975	N	-0.44	0.02835	N	5.79	0.00674	T	-1.03	0.27052	N	0.095	0.07535	-0.9430	0.42137	T	0.002	0.00556	T	9	0.044601202	0.03435	T	8.2E-4	0.00670	T	0.003	0.00094	.	.	0.128874641272	0.12493	0.10159306631719821	0.10090	1.72089044569	0.90581	.	.	.	.	.	.	-0.575811	0.00204	T	-0.864535	0.00796	T	0.016738042965368	0.00430	T	.	.	.	.	.	.	.	.	.	.	.	-3.17	0.12117	T	.	.	0.179	0.45895	B	.;.;.;.	.;.;.;.	-1.083170	0.00661	0.018	0.50719520210572711	0.04434	0.00148	0.00897	N	AEFBI	0.040604	0.06062	N	-1.66740233317036	0.00964	0.04176982	-1.76943638965084	0.00862	0.03853214	7.24329605389925E-6	0.01202	0.487112	0.14033	0	0.59043	0.45803	0	0.315538	0.05692	2	0.564101	0.26826	0	.	.	1.42	-2.83	0.05425	-3.415000	0.00532	.	.	-3.993000	0.00048	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2368:0.2927:0.4706:0.0	4.378	0.10712	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|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	0.1667	3332.55	37	chr19	54804956	.	C	G	3332.55	.	AC=7;AF=0.167;AN=42;BaseQRankSum=0.553;DP=3253;ExcessHet=2.5830;FS=4.420;InbreedingCoeff=-0.2000;MLEAC=7;MLEAF=0.167;MQ=58.57;MQRankSum=-1.550e+01;QD=1.97;ReadPosRankSum=-2.461e+00;SOR=1.289	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:111,24:135:99:0|1:54804844_A_G:674,0,4589:54804844	14	0	7	0
chr19	54804960	54804960	T	A	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon3:c.T244A:p.F82I	.	.	414	959	147	2	0	151	0.0729821	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.16	T	0.988	D	0.749	P	.	.	1.000	N	2.795	M	5.26	T	-1.036	T	0.009	T	0.293	1.165	9.742	-2.83	-1.100	0.423	0.084	0.125	0.00121079333076	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1369685826	0	4.105e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.0001	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.131	0.27663	T	0.066	0.49942	T	0.835	0.57185	P	0.439	0.51840	B	.	.	.	.	1	0.08975	N	2.84	0.82582	M	5.26	0.01121	T	-4.07	0.74661	D	0.527	0.55626	-1.0358	0.18606	T	0.009	0.03140	T	9	0.26590294	0.44090	T	0.001211	0.01583	T	0.125	0.34456	.	.	0.184605227958	0.18053	0.26410585650973184	0.26323	2.55136621799	0.97893	.	.	.	.	.	.	-0.229695	0.16690	T	-0.567717	0.15659	T	0.301442474126816	0.25063	T	.	.	.	.	.	.	.	.	.	.	.	-10.577	0.77288	D	.	.	0.167	0.46813	B	.;.;.;.	.;.;.;.	1.636286	0.20887	14.96	0.92714287306157606	0.22209	0.01840	0.05702	N	AEFBI	0.038078	0.05336	N	-0.973329979841069	0.09176	0.4332079	-1.27610017222819	0.04756	0.2250723	8.7197982285104E-6	0.01202	0.487112	0.14033	0	0.59043	0.45803	0	0.315538	0.05692	2	0.564101	0.26826	0	.	.	1.42	-2.83	0.05425	0.236000	0.17745	.	.	-1.223000	0.01335	0.008000	0.17931	0.000000	0.08366	0.000000	0.00833	0.2444:0.1891:0.2473:0.3192	0.084	0.00031	976	0.04745	Immunoglobulin|Immunoglobulin subtype;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	0.1667	3498.55	37	chr19	54804960	.	T	A	3498.55	.	AC=7;AF=0.167;AN=42;BaseQRankSum=-4.890e-01;DP=3264;ExcessHet=2.5830;FS=5.763;InbreedingCoeff=-0.2000;MLEAC=7;MLEAF=0.167;MQ=58.64;MQRankSum=-1.493e+01;QD=2.04;ReadPosRankSum=-2.172e+00;SOR=1.354	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:111,24:135:99:0|1:54804844_A_G:674,0,4589:54804844	14	0	7	0
chr19	54804968	54804968	T	G	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon3:c.T252G:p.I84M	.	.	417	956	147	2	0	151	0.0731944	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.16	T	0.687	P	0.812	P	.	.	1.000	N	-0.13	N	5.18	T	-0.933	T	0.004	T	0.218	-0.371	2.254	-2.83	-2.207	-1.190	4.771	0.045	0.000519273134144	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1325992067	0	4.105e-06	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	0.437	0.14400	T	0.374	0.18395	T	0.42	0.35330	B	0.45	0.46092	P	.	.	.	.	1	0.08975	N	-0.585	0.02270	N	5.18	0.01178	T	1.07	0.01509	N	0.251	0.28381	-0.9332	0.43665	T	0.004	0.01435	T	9	0.07691896	0.12074	T	5.19E-4	0.00174	T	0.045	0.12272	.	.	0.117191471859	0.11215	0.08007400719172995	0.07942	1.80411115478	0.91699	.	.	.	.	.	.	-0.337573	0.05559	T	-0.722677	0.04667	T	0.127119965554841	0.15113	T	.	.	.	.	.	.	.	.	.	.	.	-6.241	0.49275	T	.	.	0.117	0.24666	B	.;.;.;.	.;.;.;.	-0.141825	0.03399	0.614	0.65607078407769726	0.07820	0.00065	0.00468	N	AEFBI	0.020411	0.00803	N	-1.5866963148947	0.01332	0.0580352	-1.74726134577514	0.00943	0.042239	1.02835550443145E-4	0.05123	0.487112	0.14033	0	0.59043	0.45803	0	0.315538	0.05692	2	0.564101	0.26826	0	.	.	1.42	-2.83	0.05425	-1.147000	0.03298	.	.	-3.828000	0.00057	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.1793:0.4034:0.4173	4.771	0.12528	976	0.04745	Immunoglobulin|Immunoglobulin subtype;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	0.1667	3900.55	37	chr19	54804968	.	T	G	3900.55	.	AC=7;AF=0.167;AN=42;BaseQRankSum=1.04;DP=3302;ExcessHet=2.5830;FS=5.736;InbreedingCoeff=-0.2000;MLEAC=7;MLEAF=0.167;MQ=58.65;MQRankSum=-1.402e+01;QD=2.23;ReadPosRankSum=-2.200e+00;SOR=1.454	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:113,29:142:99:0|1:54804844_A_G:857,0,4658:54804844	14	0	7	0
chr19	54804969	54804969	A	G	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon3:c.A253G:p.S85G	.	.	417	954	149	2	0	153	0.0742358	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.008	B	0.004	B	.	.	1.000	N	-1.605	N	2.6	T	-0.984	T	0.007	T	0.077	-2.734	0	-2.83	-1.548	-0.075	7.112	0.027	0.000781134784742	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1442335978	0	4.105e-06	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	1.0	0.00964	T	1.0	0.01155	T	0.003	0.11197	B	0.002	0.06944	B	.	.	.	.	1	0.08975	N	-1.715	0.00343	N	2.6	0.13204	T	2.66	0.00310	N	0.108	0.09349	-0.9842	0.34022	T	0.007	0.02439	T	9	0.02619794	0.00792	T	7.81E-4	0.00588	T	0.027	0.05988	.	.	0.158540857583	0.15491	0.07738362904380575	0.07674	1.4201359302	0.85604	.	.	.	.	.	.	-0.401399	0.02267	T	-0.814358	0.01570	T	0.0549007298840621	0.06341	T	.	.	.	.	.	.	.	.	.	.	.	0.541	0.00210	T	.	.	0.074	0.05274	B	.;.;.;.	.;.;.;.	-0.420405	0.02138	0.205	0.22000706786361646	0.00865	0.00040	0.00335	N	AEFBI	0.020537	0.00821	N	-2.07894454137503	0.00142	0.006092453	-2.08140116520627	0.00204	0.009005726	2.05305321022085E-5	0.02871	0.487112	0.14033	0	0.59043	0.45803	0	0.315538	0.05692	2	0.564101	0.26826	0	.	.	1.42	-2.83	0.05425	-0.375000	0.07532	.	.	-1.077000	0.01579	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.4285:0.0:0.5715:0.0	7.112	0.24570	976	0.04745	Immunoglobulin|Immunoglobulin subtype;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	0.1667	3886.55	37	chr19	54804969	.	A	G	3886.55	.	AC=7;AF=0.167;AN=42;BaseQRankSum=-3.400e-01;DP=3301;ExcessHet=2.5830;FS=5.736;InbreedingCoeff=-0.2000;MLEAC=7;MLEAF=0.167;MQ=58.65;MQRankSum=-1.405e+01;QD=2.23;ReadPosRankSum=-2.321e+00;SOR=1.454	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:115,29:144:99:0|1:54804844_A_G:851,0,4718:54804844	14	0	7	0
chr19	54805015	54805015	T	C	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon3:c.T299C:p.F100S	.	.	419	776	326	1	0	328	0.174468	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.008	B	0.008	B	.	.	1.000	N	-1.335	N	5.92	T	-0.965	T	0.001	T	0.053	-2.647	0	-2.83	-1.271	-4.121	6.440	0.013	0.0010106159629	.	.	.	.	.	.	.	.	.	.	.	.	.	rs796753843	2.74e-06	0.0001	2.726e-06	2.755e-06	2.7e-06	6.4e-07	4.3e-07	7.2e-07	2e-07	0	0	0	0	1.885e-05	0	2.7e-06	0	0	5.341e-05	0.0027	7.827e-05	2.735e-05	0.0002	2.593e-05	1.856e-05	1.985e-05	1.133e-05	4.936e-05	0	6.628e-05	0	0	0	0	5.938e-05	0	0.0002	1.0	0.00964	T	0.435	0.14369	T	0.007	0.14184	B	0.008	0.13708	B	.	.	.	.	1	0.08975	N	-1.315	0.00701	N	5.92	0.00621	T	2.62	0.00266	N	0.075	0.04913	-0.9650	0.38210	T	0.001	0.00287	T	9	0.026813924	0.00840	T	0.001011	0.01096	T	0.013	0.01715	.	.	0.043077524339	0.03247	0.08146711258010714	0.08081	2.36001356848	0.96855	.	.	.	.	.	.	-0.43666	0.01353	T	-0.865008	0.00791	T	0.061946985667245	0.07471	T	.	.	.	.	.	.	.	.	.	.	.	1.914	0.00057	T	.	.	0.189	0.46085	B	.;.;.;.	.;.;.;.	-1.096354	0.00644	0.018	0.28837687520548816	0.01500	0.00083	0.00561	N	AEFDBI	0.025271	0.01704	N	-2.14306535979238	0.00103	0.00439903	-2.15844511365444	0.00139	0.006093682	1.25218217171751E-5	0.02871	0.487112	0.14033	0	0.59043	0.45803	0	0.315538	0.05692	2	0.564101	0.26826	0	.	.	1.42	-2.83	0.05425	-6.340000	0.00086	.	.	-1.208000	0.01354	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.5038:0.0:0.4962	6.440	0.21047	976	0.04745	Immunoglobulin|Immunoglobulin subtype;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	0.2143	8919.01	37	chr19	54805015	.	T	C	8919.01	.	AC=9;AF=0.214;AN=42;BaseQRankSum=-3.270e-01;DP=3894;ExcessHet=4.7172;FS=2.661;InbreedingCoeff=-0.2727;MLEAC=9;MLEAF=0.214;MQ=59.09;MQRankSum=-1.185e+01;QD=3.49;ReadPosRankSum=0.485;SOR=1.069	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:128,35:163:99:0|1:54805010_A_G:1084,0,5208:54805010	12	0	9	0
chr19	54805016	54805016	T	A	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon3:c.T300A:p.F100L	.	.	420	774	327	1	0	329	0.17528	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	D	0.542	P	0.333	B	.	.	1.000	N	1.725	L	5.83	T	-0.970	T	0.003	T	0.121	1.105	9.508	-2.7	-0.974	-0.428	2.255	0.023	0.000772524294317	.	.	.	.	.	.	.	.	.	.	.	.	.	rs796792356	1.37e-06	0.0001	0	2.755e-06	8.999e-07	2.3e-07	9e-08	.	.	0	0	0	0	1.887e-05	0	8.999e-07	0	0	5.338e-05	0.0027	7.825e-05	2.733e-05	0.0002	2.592e-05	1.855e-05	1.985e-05	1.133e-05	4.936e-05	0	6.625e-05	0	0	0	0	5.936e-05	0	0.0002	0.022	0.48642	D	0.648	0.06903	T	0.397	0.34783	B	0.333	0.42166	B	.	.	.	.	1	0.08975	N	1.665	0.42610	L	5.83	0.00652	T	-1.05	0.29933	N	0.118	0.11769	-0.9697	0.37262	T	0.003	0.01059	T	9	0.07033512	0.10217	T	7.73E-4	0.00568	T	0.023	0.04649	.	.	0.043077524339	0.03247	0.06693528354683899	0.06631	1.94744629028	0.93356	.	.	.	.	.	.	-0.343146	0.05173	T	-0.730682	0.04297	T	0.170065227283001	0.18584	T	.	.	.	.	.	.	.	.	.	.	.	-3.333	0.14166	T	.	.	0.864	0.81864	P	.;.;.;.	.;.;.;.	0.844460	0.12165	8.711	0.72763699724305153	0.10087	0.00466	0.02241	N	AEFDBI	0.041762	0.06392	N	-1.34932054137565	0.03132	0.1394129	-1.54047774464294	0.02042	0.09334472	7.01667449997308E-6	0.01202	0.487112	0.14033	0	0.59043	0.45803	0	0.315538	0.05692	2	0.564101	0.26826	0	.	.	1.42	-2.7	0.05651	-1.755000	0.01913	.	.	-1.223000	0.01335	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.256:0.3803:0.0:0.3637	2.255	0.03803	976	0.04745	Immunoglobulin|Immunoglobulin subtype;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	0.2143	8818.01	37	chr19	54805016	.	T	A	8818.01	.	AC=9;AF=0.214;AN=42;BaseQRankSum=-7.130e-01;DP=3903;ExcessHet=4.7172;FS=3.895;InbreedingCoeff=-0.2727;MLEAC=9;MLEAF=0.214;MQ=59.09;MQRankSum=-1.197e+01;QD=3.42;ReadPosRankSum=0.322;SOR=1.068	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:128,35:163:99:0|1:54805010_A_G:1084,0,5228:54805010	12	0	9	0
chr19	54805024	54805024	A	G	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon3:c.A308G:p.H103R	.	.	423	744	354	1	0	356	0.193059	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07	T	0.025	B	0.014	B	0.900	U	1.000	N	1.445	L	5.78	T	-0.926	T	0.003	T	0.132	0.330	5.790	-0.942	-0.378	-0.780	4.279	0.022	0.00119188927627	.	.	.	.	.	.	.	.	.	.	0.0004226	11	26028	rs796878779	3.426e-06	0.0002	4.09e-06	2.756e-06	1.8e-06	1e-06	7.3e-07	3e-07	1.1e-07	0	0	0	0	5.683e-05	0	1.8e-06	0	0	4.7e-05	0.0029	5.246e-05	4.127e-05	0.0002	2.151e-05	1.554e-05	1.981e-05	1.049e-05	7.471e-05	0	6.676e-05	0	0	0	0	2.979e-05	0	0.0002	0.057	0.37966	T	0.101	0.38596	T	0.009	0.15093	B	0.006	0.12133	B	0.900041	0.07350	U	1.083630	1	0.08975	N	1.245	0.31408	L	5.78	0.00681	T	-5.95	0.89152	D	0.045	0.09066	-0.9256	0.44772	T	0.003	0.00994	T	10	0.102012426	0.18672	T	0.001192	0.01533	T	0.022	0.04323	.	.	0.143184338766	0.13958	0.03833865634309133	0.03779	1.81219128519	0.91816	.	.	.	.	.	.	-0.350096	0.04721	T	-0.740665	0.03863	T	0.0647783944973474	0.07899	T	.	.	.	.	.	.	.	.	.	.	.	-4.915	0.35903	T	.	.	0.097	0.17060	B	.;.;.;.	.;.;.;.	-0.151121	0.03348	0.592	0.69629908088386028	0.09034	0.00308	0.01632	N	AEFDBI	0.034642	0.04326	N	-1.13086835408799	0.06101	0.2799287	-1.26988241760385	0.04843	0.2294386	2.01186922009763E-6	0.01202	0.487112	0.14033	0	0.59043	0.45803	0	0.315538	0.05692	2	0.564101	0.26826	0	.	.	1.42	-0.942	0.09869	-3.960000	0.00366	.	.	0.517000	0.23534	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.5371:0.0:0.4629:0.0	4.279	0.10270	976	0.04745	Immunoglobulin|Immunoglobulin subtype;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	0.2381	10370.19	37	chr19	54805024	.	A	G	10370.19	.	AC=10;AF=0.238;AN=42;BaseQRankSum=-4.070e-01;DP=4027;ExcessHet=6.1002;FS=3.749;InbreedingCoeff=-0.2989;MLEAC=9;MLEAF=0.214;MQ=59.11;MQRankSum=-1.124e+01;QD=3.60;ReadPosRankSum=0.390;SOR=1.003	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:130,42:172:99:0|1:54805010_A_G:1328,0,5292:54805010	11	0	10	0
chr19	54805033	54805033	C	T	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon3:c.C317T:p.T106I	.	.	424	690	407	1	0	409	0.228619	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.13	T	0.004	B	0.005	B	0.591	U	1.000	N	1.77	L	2.55	T	-0.987	T	0.033	T	0.099	-0.227	2.901	-2.28	-1.442	-2.050	6.335	0.024	0.000700822115211	.	.	.	.	.	.	.	.	.	.	0.0009605	25	26028	rs796513163	7.541e-06	0.0002	2.728e-06	1.241e-05	2.239e-05	4.05e-06	2.96e-06	8.4e-07	5.7e-07	0	2.239e-05	3.862e-05	0	7.619e-05	0	3.601e-06	0	1.166e-05	3.338e-05	0.0029	5.221e-05	1.366e-05	0.0006	1.276e-05	8.09e-06	0.0002	9.396e-05	2.468e-05	0	0	0	0	0	0	1.485e-05	0	0.0006	0.142	0.25768	T	0.321	0.19073	T	0.003	0.11197	B	0.004	0.10090	B	0.591279	0.05593	U	1.381260	1	0.08975	N	2	0.54354	M	2.55	0.13795	T	-2.95	0.63901	D	0.118	0.10769	-0.9874	0.33249	T	0.033	0.14334	T	10	0.060203582	0.07359	T	7.01E-4	0.00435	T	0.024	0.04979	.	.	0.0675242888579	0.06100	0.04331565967951002	0.04276	1.63047291344	0.89215	.	.	.	.	.	.	-0.366031	0.03800	T	-0.763555	0.02987	T	0.0524682142329862	0.05929	T	.	.	.	.	.	.	.	.	.	.	.	-9.207	0.69223	D	.	.	0.216	0.46273	B	.;.;.;.	.;.;.;.	0.032458	0.04511	1.213	0.83014543442455713	0.14496	0.00242	0.01343	N	AEFDBI	0.041998	0.06460	N	-1.24619832928253	0.04350	0.1961546	-1.41778311686848	0.03074	0.1426955	1.1506097044956E-5	0.02871	0.487112	0.14033	0	0.59043	0.45803	0	0.315538	0.05692	2	0.564101	0.26826	0	.	.	1.14	-2.28	0.06438	-1.970000	0.01595	.	.	-0.553000	0.04888	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.6794:0.3206:0.0:0.0	6.335	0.20497	976	0.04745	Immunoglobulin|Immunoglobulin subtype;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	0.2857	11569.11	37	chr19	54805033	.	C	T	11569.11	.	AC=12;AF=0.286;AN=42;BaseQRankSum=-2.870e-01;DP=4523;ExcessHet=9.6308;FS=5.420;InbreedingCoeff=-0.4114;MLEAC=12;MLEAF=0.286;MQ=59.15;MQRankSum=-1.246e+01;QD=3.36;ReadPosRankSum=-4.370e-01;SOR=1.113	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:127,42:169:99:0|1:54805010_A_G:1337,0,5126:54805010	9	0	12	0
chr19	54805957	54805957	A	T	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon4:c.A368T:p.Y123F	.	.	425	734	362	1	0	364	0.19869	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09	T	0.198	B	0.327	B	.	.	1.000	N	2.125	M	5.76	T	-0.946	T	0.005	T	0.221	0.808	8.245	-0.172	-0.120	0.024	3.728	0.026	0.000412457697702	.	.	.	.	.	.	.	.	.	.	0.0008452	22	26028	rs548305067	6.874e-07	4.789e-06	0	1.382e-06	9.011e-07	0	0	.	.	0	0	0	0	0	0	9.011e-07	0	0	0	2.635e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.083	0.33091	T	0.185	0.45744	T	0.029	0.25941	B	0.11	0.35187	B	.	.	.	.	1	0.08975	N	1.79	0.46772	L	5.76	0.00695	T	-2.94	0.62863	D	0.143	0.19055	-0.9456	0.41715	T	0.005	0.01651	T	9	0.09953773	0.18069	T	4.12E-4	0.00078	T	0.026	0.05648	.	.	0.0934897674506	0.08844	0.027781850178691565	0.02728	1.64456428975	0.89413	.	.	.	.	.	.	-0.296197	0.09024	T	-0.663243	0.08049	T	0.040030807459604	0.03696	T	.	.	.	.	.	.	.	.	.	.	.	-6.322	0.59734	T	.	.	0.166	0.39731	B	.;.;.;.;.;.	.;.;.;.;.;.	1.365047	0.17746	13.34	0.8690361499563457	0.16852	0.00313	0.01653	N	AEFDBI	0.037221	0.05085	N	-0.949558894302633	0.09702	0.4603585	-1.11896342680627	0.07338	0.3565461	1.17956831403963E-5	0.02871	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.05	-0.172	0.12673	-0.279000	0.08512	.	.	-0.540000	0.04934	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.5945:0.4055:0.0:0.0	3.728	0.08011	976	0.04745	.;.;.;.;.;.	.	.	.	.	.	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	0.3095	9084.15	108	chr19	54805957	.	A	T	9084.15	.	AC=13;AF=0.310;AN=42;BaseQRankSum=5.15;DP=4262;ExcessHet=11.8493;FS=0.848;InbreedingCoeff=-0.4483;MLEAC=13;MLEAF=0.310;MQ=57.77;MQRankSum=-1.667e+01;QD=2.69;ReadPosRankSum=1.69;SOR=0.888	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:142,63:205:99:0|1:54805940_TCTC_T:2218,0,5773:54805940	8	0	13	0
chr19	54805960	54805960	A	G	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon4:c.A371G:p.E124G	.	.	423	736	362	1	0	364	0.198257	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.18	T	0.007	B	0.006	B	.	.	1.000	N	0.675	N	5.81	T	-0.937	T	0.002	T	0.192	0.190	5.025	-1.55	-0.654	-0.494	4.324	0.010	0.000765021981206	.	.	.	.	.	.	.	.	.	.	0.0007684	20	26028	rs796298317	6.871e-07	4.789e-06	0	1.381e-06	9.009e-07	0	0	.	.	0	0	0	0	0	0	9.009e-07	0	0	0	2.634e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.122	0.27663	T	0.119	0.39190	T	0.007	0.14184	B	0.002	0.12133	B	.	.	.	.	1	0.08975	N	-0.045	0.04980	N	2.62	0.12988	T	-3.74	0.71042	D	0.211	0.23506	-0.9370	0.43088	T	0.002	0.00676	T	9	0.05600232	0.06209	T	7.65E-4	0.00549	T	0.010	0.01040	.	.	0.043077524339	0.03247	0.06409426405292065	0.06348	1.75526258725	0.91031	.	.	.	.	.	.	-0.331698	0.05984	T	-0.714237	0.05079	T	0.0368346457453638	0.03126	T	.	.	.	.	.	.	.	.	.	.	.	-2.952	0.34463	T	.	.	0.072	0.17103	B	.;.;.;.;.;.	.;.;.;.;.;.	0.634502	0.10029	6.781	0.88093227450565881	0.17711	0.00125	0.00780	N	AEFDBI	0.028794	0.02603	N	-1.26647521352365	0.04087	0.1837661	-1.38178856189957	0.03446	0.1607592	2.06444612407306E-5	0.02871	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.05	-1.55	0.08105	-0.492000	0.06547	.	.	-1.507000	0.01020	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.5179:0.0:0.4821:0.0	4.324	0.10473	976	0.04745	.;.;.;.;.;.	.	.	.	.	.	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	0.3095	9747.15	108	chr19	54805960	.	A	G	9747.15	.	AC=13;AF=0.310;AN=42;BaseQRankSum=0.407;DP=4341;ExcessHet=11.8493;FS=1.800;InbreedingCoeff=-0.4483;MLEAC=13;MLEAF=0.310;MQ=57.74;MQRankSum=-1.688e+01;QD=2.82;ReadPosRankSum=1.56;SOR=0.860	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:142,65:207:99:0|1:54805940_TCTC_T:2302,0,5767:54805940	8	0	13	0
chr19	54805974	54805974	A	T	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon4:c.A385T:p.T129S	.	.	422	677	422	1	0	424	0.23847	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.008	B	0.001	B	0.001	N	1.000	N	-2.79	N	2.73	T	-0.875	T	0.006	T	0.022	-2.303	0.004	-0.047	-0.086	0.239	3.134	0.102	0.00369938800555	.	.	5.567e-05	0	0.0007	0	0	0	0	0	.	.	.	rs748394765	3.431e-06	1.3e-05	4.096e-06	2.759e-06	2.701e-06	1.01e-06	7.3e-07	7.2e-07	2e-07	0	0	0	0	0	0	2.701e-06	3.326e-05	0	6.662e-06	6.588e-05	1.3e-05	0	6.616e-05	0	0	.	.	0	0	6.616e-05	0	0	0	0	0	0	0	1.0	0.00964	T	1.0	0.01155	T	0.0	0.07471	B	0.0	0.01387	B	0.001108	0.00740	N	7.200430	1	0.08975	N	-3.165	0.00009	N	2.73	0.11839	T	1.22	0.01712	N	0.056	0.03613	-0.8748	0.50166	T	0.006	0.01870	T	10	0.013647258	0.00289	T	0.003699	0.08558	T	0.102	0.29158	.	.	0.143184338766	0.13958	0.027044094549388754	0.02654	1.39109223815	0.85005	.	.	.	.	.	.	-0.462046	0.00955	T	-0.901474	0.00492	T	0.0748926305845455	0.09321	T	.	.	.	.	.	.	.	.	.	.	.	-0.763	0.00889	T	.	.	0.064	0.05845	B	.;.;.;.;.;.	.;.;.;.;.;.	-0.834838	0.01040	0.044	0.53029054606884674	0.04860	0.00012	0.00170	N	AEFDBI	0.015392	0.00291	N	-2.01882774161932	0.00193	0.008257516	-1.94356271259806	0.00400	0.01770385	1.17063954684405E-5	0.02871	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.05	-0.0469	0.13174	0.292000	0.18766	.	.	-0.624000	0.04539	0.002000	0.15269	0.000000	0.08366	0.005000	0.06747	0.3872:0.0:0.0:0.6128	3.134	0.06046	976	0.04745	.;.;.;.;.;.	.	.	.	.	.	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	0.3095	15353.15	108	chr19	54805974	.	A	T	15353.15	.	AC=13;AF=0.310;AN=42;BaseQRankSum=5.50;DP=4725;ExcessHet=11.8493;FS=0.000;InbreedingCoeff=-0.4483;MLEAC=13;MLEAF=0.310;MQ=57.65;MQRankSum=-1.628e+01;QD=4.01;ReadPosRankSum=0.664;SOR=0.759	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:148,93:241:99:0|1:54805940_TCTC_T:3460,0,5935:54805940	8	0	13	0
chr19	54805981	54805981	G	A	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon4:c.G392A:p.R131Q	.	.	421	659	441	1	0	443	0.251562	.	.	3452252	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	1	T	0.02	B	0.001	B	0.465	N	1.000	N	-2.62	N	2.75	T	-0.952	T	0.004	T	0.043	-2.074	0.006	-1.94	-0.822	-1.007	1.446	0.013	0.000941604155589	.	.	0.0003	0	0.0013	0	0	0.0002	0	0.0016	0.001921	50	26028	rs202246882	5.279e-05	6.294e-05	3.955e-05	6.616e-05	0.0003	4.287e-05	3.961e-05	0.0002	0.0002	0	0.0001	0	7.564e-05	0	0.0002	3.51e-05	6.642e-05	0.0003	0.0001	0.0002	0.0001	0.0001	0.0008	8.284e-05	6.82e-05	0.0005	0.0004	7.44e-05	0	0.0008	0	0	0	0	2.956e-05	0	0.0004	1.0	0.00964	T	1.0	0.03910	T	0.0	0.13644	B	0.0	0.04355	B	0.464890	0.04891	N	1.542390	1	0.08975	N	-2.565	0.00047	N	2.75	0.11622	T	2.25	0.00472	N	0.04	0.03069	-0.9519	0.40643	T	0.004	0.01295	T	10	0.015721977	0.00330	T	9.42E-4	0.00934	T	0.013	0.01715	.	.	0.174091166621	0.17034	0.021095889007445256	0.02062	1.71924122415	0.90548	.	.	.	.	.	.	-0.714436	0.00030	T	-0.905433	0.00465	T	0.0501607574657884	0.05529	T	.	.	.	.	.	.	.	.	.	.	.	-0.217	0.00435	T	.	.	0.065	0.06341	B	.;.;.;.;.;.	.;.;.;.;.;.	-0.525354	0.01788	0.138	0.73410874544489724	0.10318	0.00030	0.00276	N	AEFDBI	0.021298	0.00932	N	-2.17374974192811	0.00088	0.003751786	-2.12833273597635	0.00161	0.007103925	2.59535722897861E-5	0.03498	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.05	-1.94	0.07158	-1.595000	0.02196	.	.	-0.581000	0.04707	0.000000	0.06391	0.000000	0.08366	0.014000	0.10232	0.4314:0.0:0.2508:0.3177	1.446	0.02221	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.;.;Immunoglobulin	.	.	.	.	.	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	0.3095	19196.15	108	chr19	54805981	.	G	A	19196.15	.	AC=13;AF=0.310;AN=42;BaseQRankSum=2.63;DP=5055;ExcessHet=11.8493;FS=0.000;InbreedingCoeff=-0.4483;MLEAC=13;MLEAF=0.310;MQ=57.67;MQRankSum=-1.608e+01;QD=4.63;ReadPosRankSum=-2.990e-01;SOR=0.704	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:164,108:272:99:0|1:54805940_TCTC_T:3993,0,6467:54805940	8	0	13	0
chr19	54806034	54806034	C	A	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon4:c.C445A:p.Q149K	.	.	416	603	500	3	0	506	0.295561	.	.	2327274	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.06	T	0.077	B	0.073	B	0.219	U	1.000	N	2.025	M	2.69	T	-1.014	T	0.041	T	0.15	-0.307	2.540	-2.07	-1.920	-1.601	4.213	0.027	0.000600995199084	.	.	.	.	.	.	.	.	.	.	.	.	.	rs796139593	2.054e-06	2.189e-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	6.586e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.015	0.52492	D	0.466	0.21545	T	0.028	0.19712	B	0.019	0.26717	B	0.218530	0.03437	U	2.191760	1	0.08975	N	1.17	0.29769	L	2.69	0.12268	T	-0.65	0.22944	N	0.106	0.13484	-1.0136	0.25784	T	0.041	0.17446	T	10	0.07830647	0.12465	T	6.01E-4	0.00274	T	0.027	0.05988	.	.	0.15499578495	0.15088	0.030426962936334883	0.02991	1.86795582778	0.92482	.	.	.	.	.	.	-0.327326	0.06316	T	-0.707957	0.05402	T	0.07779072841769	0.09702	T	.	.	.	.	.	.	.	.	.	.	.	-3.072	0.14113	T	.	.	0.095	0.16143	B	.;.;.;.;.;.	.;.;.;.;.;.	-1.261443	0.00472	0.010	0.57104873323543892	0.05696	0.00143	0.00871	N	AEFDBI	0.036756	0.04948	N	-1.49293136850256	0.01900	0.08334951	-1.67917428157046	0.01232	0.05552245	1.96384650934533E-4	0.05898	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.04	-2.07	0.06873	-1.932000	0.01645	.	.	-5.196000	0.00013	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.4754:0.2961:0.2285	4.213	0.09977	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.;.;Immunoglobulin	.	.	.	.	.	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	0.3	25116.68	292	chr19	54806034	.	C	A	25116.68	.	AC=12;AF=0.300;AN=40;BaseQRankSum=-1.535e+00;DP=7277;ExcessHet=9.6308;FS=2.369;InbreedingCoeff=-0.4237;MLEAC=12;MLEAF=0.300;MQ=57.67;MQRankSum=-1.709e+01;QD=5.20;ReadPosRankSum=1.71;SOR=0.499	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:206,149:355:99:0|1:54806034_C_A:5636,0,8174:54806034	8	0	12	1
chr19	54806035	54806035	A	G	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon4:c.A446G:p.Q149R	.	.	417	602	500	3	0	506	0.295906	.	.	2338656	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	1	T	0.004	B	0.02	B	0.219	N	1.000	N	-0.195	N	2.67	T	-0.982	T	0.015	T	0.086	-2.553	0.003	-1.76	-1.632	0.104	6.415	0.005	0.000698231574451	.	.	0	0	0	0	0	0	0	0	.	.	.	rs746343340	2.328e-05	5.747e-05	1.226e-05	3.441e-05	0.0003	1.676e-05	1.479e-05	0.0003	0.0002	0	0	0	0	0	0	2.699e-06	1.658e-05	0.0003	1.998e-05	0.0002	0	4.097e-05	0.0006	5.31e-06	2.47e-06	0.0002	9.372e-05	0	0	0	0	0	0	0	0	0	0.0006	1.0	0.00964	T	0.716	0.08505	T	0.0	0.07471	B	0.002	0.19048	B	0.218530	0.03437	N	2.191760	1	0.08975	N	-0.41	0.02942	N	2.67	0.12473	T	0.01	0.11185	N	0.051	0.02861	-0.9819	0.34561	T	0.015	0.05849	T	10	0.022258013	0.00551	T	6.98E-4	0.00435	T	0.005	0.00259	.	.	0.20808081866	0.20439	0.018312308498273373	0.01785	1.62690945155	0.89163	.	.	.	.	.	.	-0.395299	0.02485	T	-0.805596	0.01766	T	0.0361073549231356	0.02999	T	.	.	.	.	.	.	.	.	.	.	.	-0.457	0.00626	T	.	.	0.059	0.01645	B	.;.;.;.;.;.	.;.;.;.;.;.	-0.548845	0.01717	0.126	0.1435906815429033	0.00314	0.00175	0.01031	N	AEFDBI	0.030820	0.03175	N	-2.16967246651284	0.00090	0.003831711	-2.20712287736297	0.00108	0.004744652	1.07926449648836E-4	0.05123	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.05	-1.76	0.07574	-0.066000	0.11556	.	.	-3.284000	0.00100	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.7891:0.0:0.2109:0.0	6.415	0.20912	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.;.;Immunoglobulin	.	.	.	.	.	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	0.3	25188.68	292	chr19	54806035	.	A	G	25188.68	.	AC=12;AF=0.300;AN=40;BaseQRankSum=-1.795e+00;DP=7269;ExcessHet=9.6308;FS=2.369;InbreedingCoeff=-0.4237;MLEAC=12;MLEAF=0.300;MQ=57.69;MQRankSum=-1.721e+01;QD=5.19;ReadPosRankSum=1.92;SOR=0.494	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:207,149:356:99:0|1:54806034_C_A:5633,0,8216:54806034	8	0	12	1
chr19	54806051	54806051	C	G	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon4:c.C462G:p.I154M	.	.	413	617	488	4	0	496	0.286705	.	.	2309998	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	1	T	0.022	B	0.06	B	0.022	N	1.000	N	-0.28	N	2.71	T	-0.951	T	0.016	T	0.09	-4.753	0.001	-2.09	-4.463	-0.751	4.6	0.009	0.000542649328314	.	.	.	.	.	.	.	.	.	.	0.0009221	24	26028	rs112266387	6.846e-07	1.916e-05	1.362e-06	0	8.997e-07	0	0	.	.	0	0	0	0	0	0	8.997e-07	0	0	6.643e-06	3.949e-05	0	1.361e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	1.0	0.00964	T	0.265	0.28300	T	0.001	0.13644	B	0.005	0.26717	B	0.021564	0.01555	N	4.036070	1	0.08975	N	-1.185	0.00856	N	2.71	0.12055	T	0.58	0.03824	N	0.052	0.04913	-0.9508	0.40833	T	0.016	0.06329	T	10	0.01567614	0.00329	T	5.43E-4	0.00196	T	0.009	0.00846	.	.	0.158540857583	0.15491	0.022625134842526706	0.02214	1.56269628182	0.88057	.	.	.	.	.	.	-0.406495	0.02098	T	-0.821678	0.01419	T	0.0491104212058717	0.05343	T	.	.	.	.	.	.	.	.	.	.	.	-3.48	0.28982	T	.	.	0.069	0.06617	B	.;.;.;.;.;.	.;.;.;.;.;.	-1.681431	0.00202	0.003	0.30573155537778873	0.01679	0.00033	0.00296	N	AEFDBI	0.022408	0.01117	N	-2.59438172759116	0.00009	0.0004174465	-2.64788836212231	0.00010	0.0004634108	0.947304446228941	0.27746	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.05	-2.09	0.06831	-1.305000	0.02846	.	.	-0.638000	0.04459	0.000000	0.06391	0.000000	0.08366	0.022000	0.11911	0.0:0.4374:0.2279:0.3346	4.6	0.11740	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.;.;Immunoglobulin	.	.	.	.	.	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	0.3158	22542.15	292	chr19	54806051	.	C	G	22542.15	.	AC=12;AF=0.316;AN=38;BaseQRankSum=-1.004e+00;DP=7737;ExcessHet=9.6308;FS=2.445;InbreedingCoeff=-0.4483;MLEAC=13;MLEAF=0.342;MQ=57.95;MQRankSum=-1.708e+01;QD=4.53;ReadPosRankSum=3.86;SOR=0.635	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:219,141:360:99:0|1:54806034_C_A:5262,0,8507:54806034	7	0	12	2
chr19	54806073	54806074	GA	-	exonic	KIR2DL4;LOC112268354	.	frameshift deletion	KIR2DL4:NM_001080770:exon4:c.484_485del:p.E162Sfs*3	.	.	409	636	474	3	0	480	0.273973	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	2.258e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	2.63e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3095	24607.11	292	chr19	54806072	.	GGA	G	24607.11	.	AC=13;AF=0.310;AN=42;BaseQRankSum=0.628;DP=7660;ExcessHet=11.8493;FS=3.525;InbreedingCoeff=-0.4483;MLEAC=13;MLEAF=0.310;MQ=57.97;MQRankSum=-1.728e+01;QD=4.45;ReadPosRankSum=2.39;SOR=0.940	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:212,131:343:99:0|1:54806072_GGA_G:4863,0,8469:54806072	8	0	13	0
chr19	54806075	54806075	-	GG	exonic	KIR2DL4;LOC112268354	.	frameshift insertion	KIR2DL4:NM_001080770:exon4:c.486_487insGG:p.A163Gfs*78	.	.	415	630	474	3	0	480	0.275862	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	2.258e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	2.633e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.35	28945.47	292	chr19	54806075	.	A	AGG	28945.47	.	AC=14;AF=0.350;AN=40;BaseQRankSum=-5.960e-01;DP=7796;ExcessHet=14.4320;FS=3.507;InbreedingCoeff=-0.5273;MLEAC=14;MLEAF=0.350;MQ=57.86;MQRankSum=-1.730e+01;QD=4.78;ReadPosRankSum=2.42;SOR=0.985	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:212,132:344:99:0|1:54806072_GGA_G:4905,0,8466:54806072	6	0	14	1
chr19	54806086	54806086	T	C	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon4:c.T497C:p.L166P	.	.	417	638	464	3	0	470	0.269187	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.12	T	0.024	B	0.044	B	.	.	1.000	N	0.83	L	5.72	T	-0.892	T	0.002	T	0.193	-1.464	0.019	-1.46	-2.181	-4.220	0.244	0.084	0.00126561986838	.	.	.	.	.	.	.	.	.	.	0.0108345	282	26028	rs112694450	2.054e-06	2.668e-05	1.362e-06	2.752e-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	4.606e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.176	0.28772	T	0.247	0.31026	T	0.008	0.14655	B	0.01	0.16012	B	.	.	.	.	1	0.08975	N	0.96	0.23930	L	5.72	0.00726	T	-3.32	0.68764	D	0.048	0.08088	-0.8920	0.48758	T	0.002	0.00676	T	9	0.05647248	0.06334	T	0.001266	0.01708	T	0.084	0.24469	.	.	0.043077524339	0.03247	0.029543096631376373	0.02903	2.22587521974	0.95901	.	.	.	.	.	.	-0.333176	0.05874	T	-0.71636	0.04974	T	0.06923972269659	0.08545	T	.	.	.	.	.	.	.	.	.	.	.	-6.488	0.50992	T	.	.	0.125	0.36889	B	.;.;.;.;.;.	.;.;.;.;.;.	-0.541643	0.01739	0.130	0.30546163533684245	0.01676	0.00084	0.00566	N	AEFDBI	0.040908	0.06150	N	-1.75954112441418	0.00652	0.02811985	-1.89857749402206	0.00493	0.0218348	4.00468085139758E-4	0.06820	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.728	-1.46	0.08338	-4.522000	0.00254	.	.	-1.727000	0.00720	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.2448:0.2837:0.2446:0.2269	0.244	0.00182	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.;.;Immunoglobulin	.	.	.	.	.	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	29384.38	292	chr19	54806086	.	T	C	29384.38	.	AC=15;AF=0.357;AN=42;BaseQRankSum=-1.199e+00;DP=7767;ExcessHet=17.4423;FS=4.575;InbreedingCoeff=-0.5556;MLEAC=15;MLEAF=0.357;MQ=57.83;MQRankSum=-1.735e+01;QD=4.51;ReadPosRankSum=0.065;SOR=1.111	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:218,129:347:99:.:.:4036,0,6393	6	0	15	0
chr19	54806109	54806109	A	G	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon4:c.A520G:p.I174V	.	.	416	679	424	3	0	430	0.240492	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.001	B	0.001	B	0.000	N	1.000	N	-1.53	N	2.72	T	-0.970	T	0.008	T	0.063	-3.538	0.001	-0.854	-3.514	-0.448	.	0.047	0.00150018900562	.	.	.	.	.	.	.	.	.	.	0.0017673	46	26028	rs200435373	4.107e-06	8.21e-06	4.086e-06	4.128e-06	8.986e-05	1.48e-06	9.7e-07	2.381e-05	1.26e-05	8.986e-05	4.474e-05	0	0	0	0	8.995e-07	0	0	3.982e-05	6.581e-05	5.185e-05	2.72e-05	9.852e-05	1.73e-05	1.139e-05	3.296e-05	1.946e-05	9.852e-05	0	0	0	0	0	0	2.95e-05	0	0	1.0	0.00964	T	0.716	0.08273	T	0.0	0.02946	B	0.0	0.04355	B	0.000015	0.00162	N	21.575300	1	0.08975	N	-1.765	0.00315	N	2.72	0.11947	T	0.4	0.04022	N	0.064	0.09349	-0.9697	0.37262	T	0.008	0.02968	T	9	0.026097596	0.00785	T	0.002	0.02318	T	0.047	0.12962	.	.	0.043077524339	0.03247	0.009202094420106284	0.00883	1.30891436969	0.83166	.	.	.	.	.	.	-0.448991	0.01145	T	-0.882721	0.00632	T	0.0586992040478046	0.06962	T	.	.	.	.	.	.	.	.	.	.	.	-0.517	0.02545	T	.	.	0.065	0.05360	B	.;.;.;.;.;.	.;.;.;.;.;.	-2.275204	0.00054	0.001	0.16757461822379344	0.00462	0.00104	0.00666	N	AEFDBI	0.027275	0.02201	N	-2.5106296527513	0.00015	0.0006516505	-2.51493381181123	0.00021	0.0009431019	0.0431614665892215	0.14558	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.427	-0.854	0.10163	-0.997000	0.03816	.	.	-2.920000	0.00157	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.;.;Immunoglobulin	.	.	.	.	.	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	24913.38	292	chr19	54806109	.	A	G	24913.38	.	AC=15;AF=0.357;AN=42;BaseQRankSum=-1.236e+00;DP=7520;ExcessHet=17.4423;FS=7.542;InbreedingCoeff=-0.5556;MLEAC=15;MLEAF=0.357;MQ=58.03;MQRankSum=-1.656e+01;QD=3.98;ReadPosRankSum=-3.141e+00;SOR=1.302	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:213,95:308:99:.:.:2808,0,6161	6	0	15	0
chr19	54806112	54806112	A	G	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon4:c.A523G:p.N175D	.	.	414	926	180	2	0	184	0.0903733	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	0.012	B	0.024	B	0.006	U	1.000	N	0.765	N	2.53	T	-0.990	T	0.026	T	0.033	-0.167	3.186	-0.795	-0.445	-1.162	.	0.015	0.00143953544246	.	.	.	.	.	.	.	.	.	.	0.000461	12	26028	rs796888355	6.845e-07	4.105e-06	1.362e-06	0	1.164e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.164e-05	0	1.315e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.03	0.45393	D	0.337	0.18178	T	0.002	0.09854	B	0.007	0.12992	B	0.005772	0.01094	U	5.332710	1	0.08975	N	0.345	0.11182	N	2.53	0.14038	T	-2.93	0.61865	D	0.138	0.13626	-0.9903	0.32525	T	0.026	0.11220	T	9	0.087477654	0.14971	T	0.00144	0.02164	T	0.015	0.02232	.	.	0.220282294035	0.21616	0.006777662489737481	0.00644	1.71896696176	0.90540	.	.	.	.	.	.	-0.416589	0.01799	T	-0.836177	0.01158	T	0.0856821440474374	0.10698	T	.	.	.	.	.	.	.	.	.	.	.	-7.374	0.57236	T	.	.	0.120	0.29060	B	.;.;.;.;.;.	.;.;.;.;.;.	0.412746	0.07838	4.531	0.79727465880553572	0.12873	0.00046	0.00367	N	AEFDBI	0.025639	0.01789	N	-1.25407888021563	0.04246	0.1912621	-1.39176687369686	0.03339	0.1555523	1.44639492226876E-5	0.02871	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.427	-0.795	0.10364	-0.556000	0.06082	.	.	0.352000	0.19979	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	.	.	.	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.;.;Immunoglobulin	.	.	.	.	.	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	0.2143	9512.01	292	chr19	54806112	.	A	G	9512.01	.	AC=9;AF=0.214;AN=42;BaseQRankSum=-6.490e-01;DP=7263;ExcessHet=4.7172;FS=5.109;InbreedingCoeff=-0.2727;MLEAC=9;MLEAF=0.214;MQ=57.76;MQRankSum=-1.587e+01;QD=2.63;ReadPosRankSum=-2.764e+00;SOR=1.228	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:267,46:313:99:.:.:504,0,10192	12	0	9	0
chr19	54806161	54806161	A	G	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon4:c.A572G:p.E191G	.	.	416	1062	43	1	0	45	0.0207469	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.002	B	0.001	B	0.197	U	1.000	N	-3.25	N	6.83	T	-0.852	T	0.000	T	0.138	-2.560	0.003	-0.418	-0.115	0.169	3.278	0.125	0.00319016254727	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1482608476	1.369e-06	2.805e-05	0	2.752e-06	1.164e-05	2.3e-07	9e-08	.	.	0	0	0	0	0	0	8.996e-07	0	1.164e-05	0	4.606e-05	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	0.07471	B	0.0	0.01387	B	0.197140	0.03293	U	2.244820	1	0.08975	N	-2.95	0.00016	N	6.83	0.00484	T	4.86	0.00044	N	0.172	0.19190	-0.8522	0.51816	T	0.000	0.00075	T	10	0.030806363	0.01209	T	0.00319	0.06996	T	0.125	0.34456	.	.	0.0675242888579	0.06100	0.08634734685735217	0.08568	1.74118563909	0.90866	.	.	.	.	.	.	-0.3614	0.04051	T	-0.756902	0.03225	T	0.0659469353070313	0.08069	T	.	.	.	.	.	.	.	.	.	.	.	1.576	0.00090	T	.	.	0.029	0.00020	B	.;.;.;.;.;.	.;.;.;.;.;.	-0.208131	0.03048	0.471	0.28823449377494542	0.01499	0.00008	0.00134	N	AEFDBI	0.016221	0.00352	N	-2.10568283398864	0.00124	0.005325665	-2.01989730429939	0.00278	0.01226669	1.20238691917371E-5	0.02871	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.728	-0.418	0.11728	0.692000	0.25161	.	.	-0.573000	0.04775	0.027000	0.20232	0.000000	0.08366	0.003000	0.05239	0.3266:0.0:0.6734:0.0	3.278	0.06497	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.;.;Immunoglobulin	.	.	.	.	.	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	0.09524	2204.92	292	chr19	54806161	.	A	G	2204.92	.	AC=4;AF=0.095;AN=42;BaseQRankSum=1.62;DP=3999;ExcessHet=0.6776;FS=20.520;InbreedingCoeff=-0.1053;MLEAC=4;MLEAF=0.095;MQ=58.03;MQRankSum=-1.615e+01;QD=1.78;ReadPosRankSum=2.51;SOR=3.014	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:184,32:216:99:0|1:54806161_A_G:790,0,7630:54806161	17	0	4	0
chr19	54806170	54806170	G	C	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon4:c.G581C:p.R194T	.	.	417	1070	33	1	1	36	0.016092	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09	T	0.985	D	0.907	P	0.909	N	1.000	N	2.545	M	2.92	T	-1.056	T	0.069	T	0.505	1.229	9.983	0.728	0.685	1.181	4.805	0.086	0.00167460938054	.	.	.	.	.	.	.	.	.	.	.	.	.	rs903729815	0	1.505e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	4.607e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.068	0.35726	T	0.014	0.62352	D	0.843	0.60733	P	0.609	0.61644	P	0.908863	0.07403	N	1.076150	1	0.08975	N	2.435	0.70606	M	2.92	0.09915	T	-4.66	0.79482	D	0.251	0.41656	-1.0562	0.12724	T	0.069	0.28247	T	10	0.32319447	0.49660	T	0.001675	0.02753	T	0.086	0.25016	.	.	0.341886373756	0.33793	0.0825432362972079	0.08189	3.18632837919	0.99467	.	.	.	.	.	.	-0.182359	0.23386	T	-0.499722	0.22376	T	0.762926518917084	0.44021	D	.	.	.	.	.	.	.	.	.	.	.	-7.108	0.64010	T	.	.	0.181	0.51583	B	.;.;.;.;.;.	.;.;.;.;.;.	1.917375	0.24354	16.36	0.92977417747853819	0.22558	0.01550	0.05082	N	AEFDBI	0.044415	0.07142	N	-0.40202933579575	0.25397	1.378405	-0.700629391342907	0.16944	0.8987731	1.66932649274431E-5	0.02871	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.728	0.728	0.17411	0.730000	0.25711	.	.	-1.575000	0.00928	0.003000	0.16062	0.000000	0.08366	0.001000	0.02609	0.0:0.0:1.0:0.0	4.805	0.12681	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.;.;Immunoglobulin	.	.	.	.	.	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	0.09524	2129.92	292	chr19	54806170	.	G	C	2129.92	.	AC=4;AF=0.095;AN=42;BaseQRankSum=5.00;DP=3969;ExcessHet=0.6776;FS=18.149;InbreedingCoeff=-0.1053;MLEAC=4;MLEAF=0.095;MQ=58.04;MQRankSum=-1.605e+01;QD=1.76;ReadPosRankSum=1.36;SOR=2.685	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:180,33:213:99:0|1:54806161_A_G:844,0,7459:54806161	17	0	4	0
chr19	54806178	54806178	G	A	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon4:c.G589A:p.G197S	.	.	416	1100	5	1	0	7	0.00317173	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09	T	0.998	D	0.868	P	0.093	U	1.000	N	1.46	L	2.58	T	-1.073	T	0.044	T	0.339	1.951	12.48	-0.474	-0.122	-0.059	3.151	0.059	.	.	0.00399361	0.0068	0.05	0	0	.	0	0	0	0.0003234	50	154602	rs562937136	0.0007	0.0007	0.0007	0.0006	0.0229	0.0007	0.0006	0.0216	0.0210	0.0229	0.0010	0	0	0	0.0023	5.847e-05	0.0014	0.0004	0.0061	0.0061	0.0064	0.0058	0.0214	0.0057	0.0056	0.0203	0.0198	0.0214	0	0.0013	0	0	0	0.0068	0.0001	0.0043	0.0009	0.028	0.46129	D	0.063	0.45110	T	0.981	0.60036	D	0.611	0.51118	P	0.093193	0.20236	U	0.246155	1	0.08975	N	1.84	0.48285	L	2.58	0.13434	T	-5.08	0.84457	D	0.261	0.29544	-1.0726	0.08851	T	0.044	0.18742	T	10	0.0045753717	0.00095	T	.	.	.	0.059	0.16972	.	.	0.328504224676	0.32467	0.06988589293301634	0.06926	2.68827321764	0.98538	.	.	.	.	.	.	-0.580043	0.00192	T	-0.582971	0.14280	T	0.0881467788318275	0.10995	T	.	.	.	.	.	.	.	.	.	.	.	-6.097	0.50340	T	.	.	0.213	0.55665	B	.;.;.;.;.;.	.;.;.;.;.;.	1.579481	0.20215	14.64	0.98519973530265537	0.42447	0.00237	0.01320	N	AEFDBI	0.040798	0.06117	N	-0.646128351039815	0.17573	0.9054126	-0.934422807103989	0.11285	0.573984	1.21157652715662E-5	0.02871	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.728	-0.474	0.11504	-0.555000	0.06089	.	.	0.348000	0.19902	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.3456:0.0:0.6544:0.0	3.151	0.06099	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.;.;Immunoglobulin	.	.	.	.	.	Likely benign	0	0	0	0	0	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	557.1	292	chr19	54806178	.	G	A	557.1	.	AC=2;AF=0.048;AN=42;BaseQRankSum=6.72;DP=3939;ExcessHet=0.1072;FS=13.716;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=57.71;MQRankSum=-1.030e+01;QD=0.93;ReadPosRankSum=-3.120e-01;SOR=2.105	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:194,19:213:40:.:.:40,0,8006	19	0	2	0
chr19	54806184	54806184	T	C	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon4:c.T595C:p.F199L	.	.	418	1073	30	1	0	32	0.0146924	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.22	T	0.254	B	0.094	B	0.006	N	1.000	N	1.09	L	5.85	T	-0.922	T	0.003	T	0.373	0.435	6.361	-0.617	-0.296	-2.050	2.752	0.052	0.00128745751053	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1169726842	0	1.095e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	5.266e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.191	0.21066	T	0.247	0.26066	T	0.043	0.21573	B	0.027	0.21085	B	0.005759	0.01093	N	5.479650	1	0.08975	N	0.64	0.16041	N	5.85	0.00643	T	-3.62	0.69593	D	0.061	0.03502	-0.9217	0.45320	T	0.003	0.00929	T	10	0.099934906	0.18167	T	0.001287	0.01784	T	0.052	0.14661	.	.	0.290620346082	0.28682	0.02907533590376118	0.02856	2.04366087562	0.94286	.	.	.	.	.	.	-0.26258	0.12600	T	-0.614955	0.11585	T	0.0610753484070301	0.07336	T	.	.	.	.	.	.	.	.	.	.	.	-6.709	0.51878	T	.	.	0.675	0.82233	P	.;.;.;.;.;.	.;.;.;.;.;.	-0.166739	0.03264	0.556	0.74081094485100063	0.10563	0.00161	0.00961	N	AEFBI	0.035128	0.04469	N	-1.23634316811277	0.04483	0.2024168	-1.37910423948924	0.03475	0.1621945	1.81584576774125E-6	0.01202	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.728	-0.617	0.10999	-2.589000	0.00974	.	.	-3.015000	0.00138	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.4179:0.0:0.0:0.5821	2.752	0.04959	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.;.;Immunoglobulin	.	.	.	.	.	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	0.09524	2620.92	292	chr19	54806184	.	T	C	2620.92	.	AC=4;AF=0.095;AN=42;BaseQRankSum=4.05;DP=3954;ExcessHet=0.6776;FS=11.646;InbreedingCoeff=-0.1053;MLEAC=4;MLEAF=0.095;MQ=57.87;MQRankSum=-1.562e+01;QD=2.19;ReadPosRankSum=-1.234e+00;SOR=2.027	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:171,39:210:99:0|1:54806161_A_G:1123,0,7063:54806161	17	0	4	0
chr19	54806191	54806191	G	A	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon4:c.G602A:p.G201E	.	.	417	1081	23	1	0	25	0.0114312	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.13	T	0.047	B	0.024	B	0.001	N	1.000	N	-0.69	N	5.77	T	-0.841	T	0.002	T	0.074	-3.080	0.001	-1.46	-4.112	-4.698	3.815	0.009	0.000933240469926	.	.	.	.	.	.	.	.	.	.	.	.	.	rs751766410	2.739e-06	1.779e-05	2.725e-06	2.753e-06	6.004e-05	6.4e-07	4.3e-07	9.94e-06	3.72e-06	6.004e-05	0	0	0	0	0	0	0	2.329e-05	0	3.949e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.149	0.24758	T	0.989	0.03205	T	0.007	0.14184	B	0.017	0.18140	B	0.000834	0.00693	N	25.857100	1	0.08975	N	0.385	0.12166	N	5.77	0.00687	T	-0.11	0.09796	N	0.067	0.12198	-0.8412	0.52567	T	0.002	0.00526	T	10	0.035131097	0.01749	T	9.33E-4	0.00911	T	0.009	0.00846	.	.	0.043077524339	0.03247	0.014322109949426428	0.01389	1.91097436102	0.92909	.	.	.	.	.	.	-0.406241	0.02106	T	-0.821313	0.01426	T	0.152467426749554	0.17299	T	.	.	.	.	.	.	.	.	.	.	.	-5.575	0.45358	T	.	.	0.110	0.31330	B	.;.;.;.;.;.	.;.;.;.;.;.	-2.356574	0.00045	0.001	0.63035751494400261	0.07118	0.00046	0.00367	N	AEFBI	0.026834	0.02083	N	-2.40257893415306	0.00027	0.001151865	-2.47848935217197	0.00026	0.001144284	0.126168324027902	0.16994	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.728	-1.46	0.08338	-5.953000	0.00107	.	.	-2.820000	0.00180	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.3698:0.2864:0.3438:0.0	3.815	0.08326	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.;.;Immunoglobulin	.	.	.	.	.	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	0.09524	2659.92	292	chr19	54806191	.	G	A	2659.92	.	AC=4;AF=0.095;AN=42;BaseQRankSum=1.46;DP=3941;ExcessHet=0.6776;FS=11.535;InbreedingCoeff=-0.1053;MLEAC=4;MLEAF=0.095;MQ=57.88;MQRankSum=-1.562e+01;QD=2.25;ReadPosRankSum=-2.584e+00;SOR=1.945	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:166,38:204:99:0|1:54806161_A_G:1096,0,6856:54806161	17	0	4	0
chr19	54806230	54806230	C	T	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon4:c.C641T:p.P214L	.	.	417	1092	12	1	0	14	0.00636943	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.001	B	0.004	B	0.009	N	1.000	N	-0.09	N	2.72	T	-0.961	T	0.015	T	0.089	-2.764	0	-2.01	-3.596	-0.821	3.217	0.014	0.000816710685669	.	.	.	.	.	.	.	.	.	.	0.0009221	24	26028	rs373028201	1.371e-06	1.505e-05	1.364e-06	1.378e-06	1.8e-06	2.3e-07	9e-08	3e-07	1.1e-07	0	0	0	0	0	0	1.8e-06	0	0	0	3.949e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	1.0	0.30943	T	0.751	0.15406	T	0.0	0.02946	B	0.002	0.08700	B	0.008959	0.01224	N	6.106810	1	0.08975	N	-0.34	0.03507	N	2.72	0.11947	T	-2.22	0.56144	N	0.07	0.08227	-0.9609	0.39012	T	0.015	0.05801	T	10	0.024040222	0.00648	T	8.17E-4	0.00670	T	0.014	0.01968	.	.	0.0675242888579	0.06100	0.021072794982650286	0.02060	1.56403758506	0.88076	.	.	.	.	.	.	-0.392352	0.02598	T	-0.801363	0.01868	T	0.0486300559627527	0.05257	T	.	.	.	.	.	.	.	.	.	.	.	-1.357	0.29719	T	.	.	0.072	0.12181	B	.;.;.;.;.;.	.;.;.;.;.;.	-0.620061	0.01518	0.097	0.48884289032456646	0.04116	0.00062	0.00453	N	AEFBI	0.019551	0.00689	N	-2.36564159368528	0.00032	0.001392303	-2.42714203885532	0.00034	0.001497015	0.00765305925471646	0.11515	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.01	-2.01	0.07003	-0.780000	0.04759	.	.	-3.486000	0.00081	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2225:0.3846:0.0:0.3929	3.217	0.06304	976	0.04745	Immunoglobulin subtype;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	0.04762	526.23	65	chr19	54806230	.	C	T	526.23	.	AC=2;AF=0.048;AN=42;BaseQRankSum=3.38;DP=1660;ExcessHet=0.1072;FS=6.133;InbreedingCoeff=-0.0476;MLEAC=1;MLEAF=0.024;MQ=57.77;MQRankSum=-1.289e+01;QD=1.15;ReadPosRankSum=0.686;SOR=1.520	GT:AD:DP:GQ:PL	0/1:140,29:169:99:537,0,4188	19	0	2	0
chr19	54808838	54808838	C	T	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon5:c.C661T:p.P221S	.	.	424	736	361	1	0	363	0.19782	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	T	0.006	B	0.003	B	0.046	U	1.000	N	0.13	N	7.15	T	-0.925	T	0.001	T	0.11	-1.679	0.012	-1.7	-1.068	-0.084	2.159	0.018	0.000621740094912	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.39e-06	2.737e-06	0	2.789e-06	0.0002	2.3e-07	9e-08	.	.	0	0	0	0	0	0.0002	9.144e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.277	0.21968	T	0.279	0.21745	T	0.006	0.13644	B	0.003	0.08700	B	0.046212	0.01956	U	5.272780	1	0.08975	N	0.045	0.08109	N	7.05	0.00450	T	-2.36	0.55025	N	0.061	0.06587	-0.9252	0.44829	T	0.001	0.00255	T	10	0.058746576	0.06953	T	6.22E-4	0.00303	T	0.018	0.03083	.	.	0.0675242888579	0.06100	0.02819159353811284	0.02769	1.54876453167	0.87867	.	.	.	.	.	.	-0.366904	0.03753	T	-0.764809	0.02943	T	0.114286564290524	0.13862	T	.	.	.	.	.	.	.	.	.	.	.	-4.184	0.26519	T	.	.	0.104	0.18950	B	.;.;.;.	.;.;.;.	-0.289144	0.02665	0.341	0.41441202538805488	0.02990	0.00018	0.00208	N	AEFBI	0.019551	0.00689	N	-1.61870495931056	0.01174	0.05102983	-1.71290992187964	0.01081	0.04855486	3.23883740516504E-5	0.03775	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.852	-1.7	0.07721	-0.587000	0.05874	.	.	-0.888000	0.02403	0.000000	0.06391	0.000000	0.08366	0.012000	0.09680	0.0:0.2772:0.3273:0.3955	2.159	0.03587	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	0.3333	25713.48	41	chr19	54808838	.	C	T	25713.48	.	AC=14;AF=0.333;AN=42;BaseQRankSum=3.86;DP=5771;ExcessHet=14.4320;FS=0.714;InbreedingCoeff=-0.5000;MLEAC=14;MLEAF=0.333;MQ=57.82;MQRankSum=-1.875e+01;QD=4.71;ReadPosRankSum=0.460;SOR=0.848	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:171,113:284:99:0|1:54808838_C_T:4169,0,6755:54808838	7	0	14	0
chr19	54808851	54808852	GG	-	exonic	KIR2DL4;LOC112268354	.	frameshift deletion	KIR2DL4:NM_001080770:exon5:c.674_675del:p.W225Sfs*5	.	.	420	753	348	1	0	350	0.188578	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	28348.44	41	chr19	54808850	.	TGG	T	28348.44	.	AC=14;AF=0.333;AN=42;BaseQRankSum=2.40;DP=6077;ExcessHet=14.4320;FS=0.703;InbreedingCoeff=-0.5000;MLEAC=14;MLEAF=0.333;MQ=57.95;MQRankSum=-1.810e+01;QD=4.95;ReadPosRankSum=0.095;SOR=0.839	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:177,115:292:99:0|1:54808850_TGG_T:4296,0,7066:54808850	7	0	14	0
chr19	54808853	54808853	-	AT	exonic	KIR2DL4;LOC112268354	.	frameshift insertion	KIR2DL4:NM_001080770:exon5:c.676_677insAT:p.P226Hfs*15	.	.	419	755	347	1	0	349	0.187735	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	28654.44	41	chr19	54808853	.	C	CAT	28654.44	.	AC=14;AF=0.333;AN=42;BaseQRankSum=2.62;DP=6070;ExcessHet=14.4320;FS=0.703;InbreedingCoeff=-0.5000;MLEAC=14;MLEAF=0.333;MQ=57.95;MQRankSum=-1.810e+01;QD=5.01;ReadPosRankSum=-1.110e-01;SOR=0.846	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:176,115:291:99:0|1:54808850_TGG_T:4299,0,7024:54808850	7	0	14	0
chr19	54808875	54808875	T	C	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon5:c.T698C:p.F233S	.	.	419	767	335	1	0	337	0.180118	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.001	B	0.002	B	0.491	U	1.000	N	-1.24	N	7.38	T	-0.982	T	0.000	T	0.081	-2.864	0	-1.7	-0.659	-3.350	3.991	0.009	0.000447511138945	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1465997687	1.376e-06	1.368e-06	1.37e-06	1.382e-06	6.075e-05	2.3e-07	9e-08	1.006e-05	3.76e-06	6.075e-05	0	0	0	0	0	0	0	0	1.993e-05	1.974e-05	1.297e-05	2.724e-05	7.415e-05	5.3e-06	2.47e-06	1.966e-05	1.045e-05	7.415e-05	0	0	0	0	0	0	0	0	0	1.0	0.00964	T	0.506	0.10967	T	0.0	0.07471	B	0.002	0.06944	B	0.491149	0.05037	U	1.930170	1	0.08975	N	-1.515	0.00494	N	7.25	0.00433	T	2.25	0.00307	N	0.14	0.13911	-0.9819	0.34561	T	0.000	0.00152	T	10	0.028942287	0.01023	T	4.48E-4	0.00107	T	0.009	0.00846	.	.	0.043077524339	0.03247	0.02708054647761313	0.02658	2.35642927456	0.96844	.	.	.	.	.	.	-0.409861	0.01992	T	-0.826513	0.01325	T	0.0655447216952588	0.08011	T	.	.	.	.	.	.	.	.	.	.	.	-0.475	0.00568	T	.	.	0.070	0.03887	B	.;.;.;.	.;.;.;.	-0.295392	0.02636	0.333	0.47455017389395787	0.03881	0.00276	0.01495	N	AEFBCI	0.026542	0.02011	N	-2.02046759288525	0.00191	0.008189703	-2.03483107511558	0.00258	0.01138985	2.16622587642089E-5	0.03498	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.852	-1.7	0.07721	-2.798000	0.00832	.	.	-2.007000	0.00444	0.000000	0.06391	0.000000	0.08366	0.019000	0.11356	0.0:0.4355:0.0:0.5645	3.991	0.09026	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	0.3333	29056.48	41	chr19	54808875	.	T	C	29056.48	.	AC=14;AF=0.333;AN=42;BaseQRankSum=0.156;DP=6159;ExcessHet=14.4320;FS=1.502;InbreedingCoeff=-0.5000;MLEAC=14;MLEAF=0.333;MQ=58.16;MQRankSum=-1.759e+01;QD=5.05;ReadPosRankSum=-6.680e-01;SOR=0.766	GT:AD:DP:GQ:PL	0/1:178,115:293:99:4295,0,4651	7	0	14	0
chr19	54835088	54835088	T	G	exonic	KIR2DS4	.	nonsynonymous SNV	KIR2DS4:NM_001281971:exon2:c.T44G:p.L15W	.	.	436	1020	60	6	0	72	0.0340909	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0043	.	0.0015	0.0006	0.0005	0.0002	0.0020	0.0021	0.0035	0.0009	0.0008452	22	26028	rs200101952	0.0004	0.0030	0.0003	0.0005	0.0017	0.0003	0.0003	0.0014	0.0013	9.206e-05	0.0007	0.0004	0.0004	0.0011	0.0002	0.0002	0.0002	0.0017	0.0004	0.0042	0.0004	0.0004	0.0008	0.0003	0.0003	0.0004	0.0003	0.0002	0	0.0002	0.0006	0.0002	0.0006	0	0.0005	0.0021	0.0008	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	1657.68	38	chr19	54835088	.	T	G	1657.68	.	AC=3;AF=0.071;AN=42;BaseQRankSum=2.53;DP=2038;ExcessHet=0.3300;FS=2.369;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=56.00;MQRankSum=-7.490e+00;QD=5.23;ReadPosRankSum=-1.724e+00;SOR=0.841	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:18,20:38:99:0|1:54835065_A_G:638,0,691:54835065	18	0	3	0
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	0/1:290,186,84:560:99:.:.:4263,0,9285,2094,6892,16373	4	0	11	0
chr19	54855625	54855625	A	T	exonic	KIR3DL2	.	nonsynonymous SNV	KIR3DL2:NM_001242867:exon5:c.A662T:p.Y221F	.	.	417	757	348	0	0	348	0.186896	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.998	D	0.957	D	0.987	U	1.000	N	1.885	L	5.76	T	-0.914	T	0.007	T	0.13	2.147	13.14	-0.254	-0.134	-1.675	3.712	0.019	0.000464580640836	.	.	.	.	.	.	.	.	.	.	.	.	.	rs953284565	0	1.368e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	1.973e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.0	0.91255	D	0.297	0.22084	T	0.998	0.73220	D	0.957	0.69900	D	0.987012	0.08056	U	0.989616	1	0.08975	N	1.825	0.47900	L	5.76	0.00695	T	-2.9	0.60827	D	0.098	0.12770	-0.9144	0.46298	T	0.007	0.02518	T	10	0.1624504	0.30445	T	4.65E-4	0.00116	T	0.019	0.03383	0.518	0.61915	0.336892272479	0.33291	0.018868245159557127	0.01840	1.60845377238	0.88855	0.403694212437	0.25583	T	0.067962	0.33336	T	-0.305796	0.08124	T	-0.677031	0.07167	T	0.537836849689484	0.34024	D	.	.	.	0.19793491	0.41677	0.16741675	0.38624	0.19793491	0.41677	0.16741675	0.38624	-6.639	0.51350	T	.	.	0.148	0.32589	B	.;.	.;.	0.893731	0.12673	9.197	0.95973909104232413	0.28337	0.00299	0.01594	N	AEFBI	0.032299	0.03618	N	-0.732235372597301	0.15120	0.7592366	-0.957408281364291	0.10751	0.5435199	1.67992491567851E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	0.993	-0.254	0.12350	-0.950000	0.03999	.	.	-0.201000	0.08892	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.5937:0.4063:0.0:0.0	3.712	0.07954	982	0.03397	.;.	.	.	.	.	.	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	20296.38	88	chr19	54855625	.	A	T	20296.38	.	AC=15;AF=0.357;AN=42;BaseQRankSum=-8.030e-01;DP=5048;ExcessHet=17.4423;FS=6.158;InbreedingCoeff=-0.5556;MLEAC=15;MLEAF=0.357;MQ=57.76;MQRankSum=-1.439e+01;QD=4.26;ReadPosRankSum=0.340;SOR=0.588	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:262,82:344:99:0|1:54855608_TCTC_T:2655,0,10755:54855608	6	0	15	0
chr19	54855628	54855628	A	G	exonic	KIR3DL2	.	nonsynonymous SNV	KIR3DL2:NM_001242867:exon5:c.A665G:p.E222G	.	.	417	765	340	0	0	340	0.181818	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.19	T	0.999	D	0.99	D	0.407	U	1.000	N	0.715	N	5.81	T	-0.864	T	0.005	T	0.109	0.702	7.744	0.993	0.705	-1.951	4.242	0.018	0.0011106169865	.	.	.	.	.	.	.	.	.	.	.	.	.	rs985925024	6.844e-07	2.052e-06	1.362e-06	0	8.994e-07	0	0	.	.	0	0	0	0	0	0	8.994e-07	0	0	0	1.972e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.118	0.28148	T	0.271	0.22291	T	0.999	0.77913	D	0.99	0.78936	D	0.407241	0.04570	U	1.688890	1	0.08975	N	0.38	0.12130	N	5.81	0.00662	T	-1.77	0.41809	N	0.087	0.10769	-0.8640	0.50973	T	0.005	0.01833	T	10	0.0910846	0.15926	T	0.001111	0.01336	T	0.018	0.03083	0.409	0.44395	0.184867976434	0.18130	0.04741152337579393	0.04684	1.9288275753	0.93111	0.312949419022	0.12353	T	0.061579	0.31691	T	-0.358922	0.04191	T	-0.753343	0.03358	T	0.0479596368968487	0.05137	T	.	.	.	0.038775276	0.05231	0.055304885	0.09676	0.038775276	0.05230	0.055304885	0.09675	-4.68	0.36840	T	.	.	0.068	0.03552	B	.;.	.;.	0.681116	0.10498	7.211	0.93748499984386979	0.23687	0.00095	0.00623	N	AEFBI	0.022196	0.01079	N	-0.906883655702748	0.10679	0.5115434	-1.03393035090106	0.09045	0.4478514	2.60640366773723E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	0.993	0.993	0.18943	-0.810000	0.04612	.	.	-0.201000	0.08892	0.000000	0.06391	0.000000	0.08366	0.005000	0.06747	1.0:0.0:0.0:0.0	4.242	0.10106	982	0.03397	.;.	.	.	.	.	.	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	19524.38	88	chr19	54855628	.	A	G	19524.38	.	AC=15;AF=0.357;AN=42;BaseQRankSum=-2.458e+00;DP=5081;ExcessHet=17.4423;FS=6.361;InbreedingCoeff=-0.5556;MLEAC=15;MLEAF=0.357;MQ=57.81;MQRankSum=-1.448e+01;QD=4.07;ReadPosRankSum=0.351;SOR=0.605	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:274,80:354:99:0|1:54855608_TCTC_T:2534,0,11136:54855608	6	0	15	0
chr19	54855667	54855668	AG	-	exonic	KIR3DL2	.	frameshift deletion	KIR3DL2:NM_001242867:exon5:c.704_705del:p.Q235Rfs*10	.	.	415	977	130	0	0	130	0.06238	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	3948.51	88	chr19	54855666	.	CAG	C	3948.51	.	AC=7;AF=0.167;AN=42;BaseQRankSum=-2.013e+00;DP=3294;ExcessHet=2.5830;FS=18.051;InbreedingCoeff=-0.2000;MLEAC=7;MLEAF=0.167;MQ=58.18;MQRankSum=-1.766e+01;QD=1.78;ReadPosRankSum=-6.440e-01;SOR=1.935	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:318,36:354:99:0|1:54855666_CAG_C:533,0,13236:54855666	14	0	7	0
chr19	54855669	54855669	-	CA	exonic	KIR3DL2	.	frameshift insertion	KIR3DL2:NM_001242867:exon5:c.706_707insCA:p.G237Qfs*5	.	.	418	973	131	0	0	131	0.0630717	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	3954.51	88	chr19	54855669	.	G	GCA	3954.51	.	AC=7;AF=0.167;AN=42;BaseQRankSum=0.566;DP=3235;ExcessHet=2.5830;FS=18.051;InbreedingCoeff=-0.2000;MLEAC=7;MLEAF=0.167;MQ=58.30;MQRankSum=-1.766e+01;QD=1.78;ReadPosRankSum=-9.070e-01;SOR=1.935	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:318,36:354:99:0|1:54855666_CAG_C:533,0,13236:54855666	14	0	7	0
chr19	54859084	54859084	C	T	exonic	KIR3DL2	.	nonsynonymous SNV	KIR3DL2:NM_006737:exon6:c.C955T:p.P319S,	.	.	416	1029	76	1	0	78	0.0365169	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.18	T	0.964	D	0.599	P	.	.	1.000	N	0.95	L	7.02	T	-0.867	T	0.001	T	0.044	-0.290	2.614	-0.604	-0.204	0.241	2.974	0.064	0.000624441967726	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.026e-05	1.231e-05	4.085e-06	1.651e-05	1.259e-05	6.16e-06	4.89e-06	7.31e-06	5.72e-06	0	0	0	0	0	0	1.259e-05	1.656e-05	0	6.572e-06	2.625e-05	0	1.345e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.089	0.32141	T	0.425	0.13912	T	0.886	0.48745	P	0.383	0.43945	B	.	.	.	.	1	0.08975	N	0.41	0.12415	N	7.02	0.00454	T	-2.97	0.61865	D	0.064	0.03613	-0.8674	0.50724	T	0.001	0.00467	T	9	0.09483707	0.16894	T	6.24E-4	0.00303	T	0.064	0.18567	0.248	0.18447	0.117506650769	0.11410	0.04836548424617068	0.04779	1.71135710155	0.90445	0.356161952019	0.18825	T	0.059672	0.31178	T	-0.393334	0.02559	T	-0.802774	0.01834	T	0.34234310394307	0.26717	T	.	.	.	0.039089512	0.05330	0.078269705	0.17516	0.039089512	0.05330	0.078269705	0.17516	-2.822	0.08388	T	.	.	0.088	0.11606	B	.	.	0.788312	0.11583	8.178	0.84617625941685071	0.15397	0.00022	0.00232	N	AEFGBI	0.014378	0.00226	N	-0.746472741392689	0.14729	0.7361992	-0.985325967743381	0.10114	0.5073769	0.00905559668788433	0.11788	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	0.851	-0.604	0.11043	-0.027000	0.12319	.	.	-0.464000	0.05108	0.037000	0.20830	0.000000	0.08366	0.012000	0.09680	0.0:0.3552:0.0:0.6448	2.974	0.05570	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	0.09524	1957.92	34	chr19	54859084	.	C	T	1957.92	.	AC=4;AF=0.095;AN=42;BaseQRankSum=-2.106e+00;DP=2332;ExcessHet=0.6776;FS=0.000;InbreedingCoeff=-0.1053;MLEAC=4;MLEAF=0.095;MQ=44.36;MQRankSum=-6.845e+00;QD=1.26;ReadPosRankSum=-1.042e+00;SOR=0.662	GT:AD:DP:GQ:PL	0/1:341,33:374:99:363,0,9219	17	0	4	0
chr19	54859097	54859098	GG	-	exonic	KIR3DL2	.	frameshift deletion	KIR3DL2:NM_006737:exon6:c.968_969del:p.W323Sfs*62,	.	.	418	1027	76	1	0	78	0.0365854	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09524	1875.88	34	chr19	54859096	.	TGG	T	1875.88	.	AC=4;AF=0.095;AN=42;BaseQRankSum=-2.373e+00;DP=2349;ExcessHet=0.6776;FS=0.000;InbreedingCoeff=-0.1053;MLEAC=4;MLEAF=0.095;MQ=43.43;MQRankSum=-6.131e+00;QD=1.19;ReadPosRankSum=0.420;SOR=0.671	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:347,33:380:99:0|1:54859096_TGG_T:341,0,14451:54859096	17	0	4	0
chr19	54859099	54859099	-	AT	exonic	KIR3DL2	.	frameshift insertion	KIR3DL2:NM_006737:exon6:c.970_971insAT:p.P324Hfs*20,	.	.	419	1023	79	1	0	81	0.0380818	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09524	1875.88	34	chr19	54859099	.	C	CAT	1875.88	.	AC=4;AF=0.095;AN=42;BaseQRankSum=-2.465e+00;DP=2344;ExcessHet=0.6776;FS=0.000;InbreedingCoeff=-0.1053;MLEAC=4;MLEAF=0.095;MQ=43.29;MQRankSum=-6.131e+00;QD=1.19;ReadPosRankSum=0.484;SOR=0.671	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:347,33:380:99:0|1:54859096_TGG_T:341,0,14451:54859096	17	0	4	0
chr19	54859126	54859126	T	A	exonic	KIR3DL2	.	nonsynonymous SNV	KIR3DL2:NM_006737:exon6:c.T997A:p.S333T,	.	.	422	1024	75	1	0	77	0.0362353	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.002	B	0.011	B	.	.	1.000	N	-1.22	N	7.11	T	-0.954	T	0.000	T	0.046	-3.410	0.001	-1.7	-2.276	-2.170	0.066	0.058	0.000592853644405	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.368e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	1.969e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	1.0	0.00964	T	0.952	0.02603	T	0.002	0.09854	B	0.008	0.13708	B	.	.	.	.	1	0.08975	N	-1.145	0.00921	N	7.11	0.00444	T	1.51	0.00728	N	0.047	0.01911	-0.9540	0.40274	T	0.000	0.00114	T	9	0.020475209	0.00472	T	5.93E-4	0.00260	T	0.058	0.16647	0.251	0.18912	0.0482279557977	0.04254	0.03848246725599166	0.03794	1.5778815892	0.88350	0.446997404099	0.31534	T	0.001513	0.00960	T	-0.446873	0.01178	T	-0.879678	0.00656	T	0.0579299394948747	0.06839	T	.	.	.	0.035080478	0.04062	0.03344365	0.02239	0.035080478	0.04062	0.03344365	0.02239	-2.536	0.06032	T	.	.	0.060	0.00949	B	.	.	-0.849207	0.01014	0.042	0.38981453092339813	0.02662	0.00032	0.00291	N	AEFGBI	0.016009	0.00335	N	-2.17322769998613	0.00088	0.003762631	-2.19645317612939	0.00114	0.005011955	0.249042233931105	0.18659	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	0.851	-1.7	0.07721	-2.450000	0.01084	.	.	-2.250000	0.00337	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2879:0.2416:0.223:0.2475	0.066	0.00016	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	0.07143	1568.68	34	chr19	54859126	.	T	A	1568.68	.	AC=3;AF=0.071;AN=42;BaseQRankSum=-2.635e+00;DP=2070;ExcessHet=0.3300;FS=0.000;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=42.42;MQRankSum=-4.951e+00;QD=1.50;ReadPosRankSum=4.95;SOR=0.682	GT:AD:DP:GQ:PL	0/1:312,32:344:99:407,0,8800	18	0	3	0
chr19	54865810	54865810	T	C	exonic	KIR3DL2	.	nonsynonymous SNV	KIR3DL2:NM_001242867:exon6:c.T955C:p.C319R	.	.	403	855	264	0	0	264	0.133739	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.15	T	0.0	B	0.001	B	.	.	1.000	N	-0.69	N	7.32	T	-0.976	T	0.001	T	0.094	-0.882	0.475	-0.763	-1.126	-1.523	.	0.009	0.00110318286967	.	.	.	.	.	.	.	.	.	.	7.68e-05	2	26028	rs796466301	7.457e-05	0.0011	7.798e-05	7.115e-05	0.0002	6.259e-05	5.845e-05	9.469e-05	7.503e-05	0.0001	0.0002	0.0002	5.078e-05	0	0	6.593e-05	3.482e-05	0.0002	0	3.285e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.134	0.26300	T	0.451	0.12920	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	0.999999	0.08975	N	-1.04	0.01097	N	7.31	0.00423	T	0.16	0.05217	N	0.083	0.10769	-0.9760	0.35904	T	0.001	0.00188	T	8	0.04906112	0.04441	T	0.001103	0.01312	T	0.009	0.00846	0.442	0.49811	0.119812018005	0.11559	0.09452283820028774	0.09384	2.56269628182	0.97972	0.333641290665	0.15483	T	7.89E-4	0.00376	T	-0.415095	0.01840	T	-0.834032	0.01193	T	0.059155964491615	0.07034	T	.	.	.	0.106677674	0.25223	0.1821225	0.41119	0.106677674	0.25223	0.1821225	0.41119	1.528	0.00757	T	.	.	0.054	0.02639	B	.;.	.;.	-0.404554	0.02196	0.218	0.45649119719455972	0.03599	0.00039	0.00329	N	AEFBI	0.015175	0.00277	N	-1.72878488187199	0.00744	0.03215037	-1.79035493063549	0.00791	0.03527497	4.27305037267331E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	0.609	-0.763	0.10475	-1.665000	0.02067	.	.	-1.747000	0.00693	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	976	0.04745	.;.	.	.	.	.	.	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	0.3333	31702.71	90	chr19	54865810	.	T	C	31702.71	.	AC=14;AF=0.333;AN=42;BaseQRankSum=-1.293e+00;DP=3755;ExcessHet=14.4320;FS=1.258;InbreedingCoeff=-0.5016;MLEAC=14;MLEAF=0.333;MQ=58.31;MQRankSum=-9.487e+00;QD=9.30;ReadPosRankSum=1.76;SOR=0.566	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:162,89:251:99:0|1:54865770_G_A:3249,0,6534:54865770	7	0	14	0
chr19	54865825	54865825	G	A	exonic	KIR3DL2	.	nonsynonymous SNV	KIR3DL2:NM_001242867:exon6:c.G970A:p.V324I	.	.	402	857	263	0	0	263	0.13303	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.13	T	0.259	B	0.269	B	.	.	1.000	N	0.7	N	7.31	T	-0.975	T	0.001	T	0.028	-1.590	0.014	-1.58	-0.698	-0.374	3.986	0.008	0.00055253107299	.	.	.	.	.	.	.	.	.	.	.	.	.	rs796782943	6.843e-07	1.368e-06	0	1.376e-06	8.997e-07	0	0	.	.	0	0	0	0	0	0	8.997e-07	0	0	6.575e-06	6.567e-06	0	1.346e-05	0.0002	0	0	.	.	0	0	0	0	0.0002	0	0	0	0	0	0.164	0.24468	T	0.419	0.14158	T	0.002	0.09854	B	0.01	0.14941	B	.	.	.	.	1	0.08975	N	1.11	0.28643	L	7.18	0.00448	T	-0.21	0.10656	N	0.072	0.04547	-0.9746	0.36213	T	0.001	0.00348	T	9	0.07256496	0.10849	T	5.53E-4	0.00208	T	0.008	0.00669	0.367	0.37524	0.241078983079	0.23725	0.04157770004610267	0.04102	0.0027843863192	0.00238	0.408555775881	0.26256	T	0.002608	0.01994	T	-0.428714	0.01509	T	-0.853595	0.00915	T	0.0821466851244207	0.10259	T	.	.	.	0.022919703	0.00990	0.029417474	0.01278	0.022919703	0.00989	0.029417474	0.01278	-3.748	0.20029	T	.	.	0.070	0.08033	B	.;.	.;.	-1.320914	0.00420	0.008	0.32275471755800766	0.01862	0.00127	0.00790	N	AEFBI	0.021088	0.00901	N	-1.46961496636215	0.02067	0.09089394	-1.60118741659373	0.01648	0.07480784	3.08807583727834E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	0.792	-1.58	0.08029	-0.835000	0.04494	.	.	-0.482000	0.05067	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.5465:0.0:0.4535:0.0	3.986	0.09005	976	0.04745	.;.	.	.	.	.	.	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	0.35	30212.51	90	chr19	54865825	.	G	A	30212.51	.	AC=14;AF=0.350;AN=40;BaseQRankSum=0.417;DP=3951;ExcessHet=14.4320;FS=0.000;InbreedingCoeff=-0.5273;MLEAC=14;MLEAF=0.350;MQ=58.36;MQRankSum=-1.018e+01;QD=8.39;ReadPosRankSum=2.06;SOR=0.640	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:179,87:266:99:0|1:54865770_G_A:3114,0,7254:54865770	6	0	14	1
chr19	54865847	54865847	T	C	exonic	KIR3DL2	.	nonsynonymous SNV	KIR3DL2:NM_001242867:exon6:c.T992C:p.V331A	.	.	401	853	268	0	0	268	0.135765	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.15	T	0.988	D	0.985	D	0.029	N	1.000	N	0.125	N	7.27	T	-0.917	T	0.002	T	0.051	-1.319	0.034	-1.58	-1.598	-0.458	5.878	0.065	0.000400803919065	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1224475740	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.162	0.29823	T	0.986	0.02387	T	0.98	0.59353	D	0.966	0.71341	D	0.029014	0.01695	N	4.101880	1	0.08975	N	0.395	0.12235	N	7.27	0.00437	T	-0.92	0.24676	N	0.126	0.11912	-0.9172	0.45931	T	0.002	0.00585	T	10	0.07284033	0.10928	T	4.01E-4	0.00071	T	0.065	0.18881	0.494	0.58206	0.0297737177859	0.01360	0.06284081072503588	0.06223	0.00213134346531	0.00180	0.403696119785	0.25583	T	0.001044	0.00572	T	-0.400058	0.02313	T	-0.812432	0.01611	T	0.139050558209419	0.16193	T	.	.	.	0.031689838	0.03054	0.03537673	0.02778	0.031689838	0.03053	0.03537673	0.02778	-6.306	0.48770	T	.	.	0.101	0.17488	B	.;.	.;.	0.454312	0.08244	4.984	0.26484307624393894	0.01271	0.00052	0.00397	N	AEFBI	0.015930	0.00328	N	-1.33586624352162	0.03274	0.1459584	-1.54872497766398	0.01985	0.0906649	1.28470643324931E-5	0.02871	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	0.792	-1.58	0.08029	-0.401000	0.07293	.	.	-0.458000	0.05121	0.000000	0.06391	0.000000	0.08366	0.033000	0.13494	0.0:0.5995:0.0:0.4005	5.878	0.18089	976	0.04745	.;.	.	.	.	.	.	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	0.3333	31525.16	90	chr19	54865847	.	T	C	31525.16	.	AC=14;AF=0.333;AN=42;BaseQRankSum=2.74;DP=3983;ExcessHet=14.4320;FS=0.597;InbreedingCoeff=-0.5108;MLEAC=14;MLEAF=0.333;MQ=58.27;MQRankSum=-1.006e+01;QD=8.70;ReadPosRankSum=0.977;SOR=0.761	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:179,86:265:99:0|1:54865770_G_A:3072,0,7257:54865770	7	0	14	0
chr19	54866420	54866420	C	G	exonic	KIR3DL2	.	nonsynonymous SNV	KIR3DL2:NM_001242867:exon7:c.C1105G:p.Q369E	.	.	420	771	331	0	0	331	0.176722	0.0001	0.016	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.0	B	0.002	B	.	.	1.000	N	-1.735	N	7.23	T	-0.988	T	0.000	T	0.038	-2.832	0	-1.86	-0.450	0.343	6.644	0.019	0.000487258690266	.	.	.	.	.	.	.	.	.	.	0.0002305	6	26028	rs973541788	6.841e-07	8.893e-06	0	1.375e-06	2.519e-05	0	0	.	.	0	0	0	2.519e-05	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	-1.08	0.01032	N	7.15	0.00440	T	1.42	0.00936	N	0.047	0.01911	-0.9881	0.33077	T	0.000	0.00114	T	9	0.028343678	0.00967	T	4.87E-4	0.00143	T	0.019	0.03383	0.432	0.48171	0.139678290688	0.13603	0.030255114197267258	0.02974	0.00231557063093	0.00198	0.46007502079	0.33320	T	0.001004	0.00540	T	-0.420253	0.01704	T	-0.841441	0.01077	T	0.0475666406958597	0.05065	T	.	.	.	0.048541624	0.08476	0.04803189	0.07048	0.048541624	0.08476	0.04803189	0.07048	-3.597	0.17813	T	.	.	0.049	0.00120	B	.;.	.;.	-0.208194	0.03048	0.471	0.46700175483676853	0.03761	0.00016	0.00195	N	AEFBI	0.016061	0.00339	N	-1.82336724726666	0.00490	0.02110744	-1.81317678004361	0.00718	0.0319862	2.83414617026636E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	1.05	-1.86	0.07340	0.363000	0.20037	.	.	-0.318000	0.05900	0.220000	0.24536	0.000000	0.08366	0.002000	0.04165	0.0:0.5951:0.4049:0.0	6.644	0.22116	976	0.04745	.;.	.	.	.	.	.	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	0.3333	15435.48	140	chr19	54866420	.	C	G	15435.48	.	AC=14;AF=0.333;AN=42;BaseQRankSum=-3.889e+00;DP=4431;ExcessHet=14.4320;FS=9.928;InbreedingCoeff=-0.5000;MLEAC=14;MLEAF=0.333;MQ=58.11;MQRankSum=-1.691e+01;QD=3.94;ReadPosRankSum=1.08;SOR=0.395	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:247,50:297:99:0|1:54866416_T_C:1356,0,10198:54866416	7	0	14	0
chr19	54866533	54866533	A	T	exonic	KIR3DL2	.	nonsynonymous SNV	KIR3DL2:NM_001242867:exon8:c.A1119T:p.E373D	.	.	420	1022	80	0	0	80	0.0376648	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.993	D	0.99	D	.	.	1.000	N	1.81	L	7.17	T	-0.887	T	0.003	T	0.119	0.708	7.775	-2.23	-0.191	0.244	3.962	0.049	0.000605757839165	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs372092512	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	0.53172	D	0.432	0.13634	T	0.989	0.62824	D	0.977	0.73820	D	.	.	.	.	1	0.08975	N	1.455	0.36767	L	7.15	0.00448	T	-1.33	0.33197	N	0.032	0.07535	-0.8872	0.49172	T	0.003	0.00832	T	9	0.09381515	0.16631	T	6.06E-4	0.00274	T	0.049	0.13647	0.278	0.23164	0.309530620856	0.30565	0.04776419956839925	0.04719	0.00263683917289	0.00224	0.397166699171	0.24675	T	0.009012	0.08229	T	-0.310709	0.07687	T	-0.684088	0.06738	T	0.0624436335153859	0.07548	T	.	.	.	0.069478154	0.15226	0.052691333	0.08732	0.069478154	0.15226	0.052691333	0.08731	-5.991	0.46204	T	.	.	0.123	0.25914	B	.;.	.;.	1.370321	0.17801	13.38	0.9555976710174543	0.27236	0.00357	0.01833	N	AEFBI	0.023672	0.01352	N	-0.665085175571445	0.17022	0.8724157	-0.948421509682792	0.10960	0.5553993	3.55301781292242E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	1.4	-2.23	0.06539	0.255000	0.18102	.	.	0.660000	0.55035	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.3911:0.0:0.0:0.6089	3.962	0.08909	976	0.04745	.;.	.	.	.	.	.	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	1160.99	140	chr19	54866533	.	A	T	1160.99	.	AC=4;AF=0.095;AN=42;BaseQRankSum=0.052;DP=5436;ExcessHet=0.6776;FS=29.613;InbreedingCoeff=-0.1067;MLEAC=4;MLEAF=0.095;MQ=58.36;MQRankSum=-2.122e+01;QD=0.61;ReadPosRankSum=0.502;SOR=2.870	GT:AD:DP:GQ:PL	0/1:410,51:461:99:275,0,12458	17	0	4	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	1/1:0,88,0:88:99:.:.:3899,270,0,3899,270,3899	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	1/1:0,88,0:88:99:.:.:3899,270,0,3899,270,3899	0	18	2	0
chr19	55388181	55388181	T	A	exonic	RPL28	.	nonsynonymous SNV	RPL28:NM_001136134:exon4:c.T457A:p.W153R,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	B	0.0	B	.	.	1.000	P	.	.	.	.	-1.014	T	0.054	T	0.076	-1.407	0.022	-1.19	-0.849	-0.625	4.487	0.093	.	.	0.00439297	0.0022	0.0184	0.0011	0	0	3.612e-05	0.0029	0	0.0010802	167	154602	rs10411984	0.0004	0.0004	0.0004	0.0003	0.0128	0.0003	0.0003	0.0117	0.0113	0.0128	0.0008	0	0	0	0.0007	1.221e-05	0.0007	5.351e-05	0.0038	0.0038	0.0038	0.0038	0.0129	0.0036	0.0035	0.0120	0.0116	0.0129	0	0.0022	0	0	0	0	8.824e-05	0.0028	0	0.0	0.91255	D	0.182	0.29249	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	P	.	.	.	0.54	0.54911	T	-0.47	0.15178	N	0.154	0.15888	-1.0145	0.25497	T	0.054	0.22883	T	5	0.0033333302	0.00058	T	.	.	.	.	.	.	.	0.134007934775	0.12933	.	.	.	.	.	.	.	.	.	.	-0.590477	0.00167	T	-0.609279	0.12043	T	0.00309255959258532	0.00032	T	0.127787	0.01001	T	.	.	.	.	.	.	.	.	-2.252	0.04300	T	.	.	0.260	0.49441	B	.	.	0.474084	0.08434	5.193	0.40930967374429073	0.02920	0.05312	0.11161	N	AEFGBHCI	.	.	.	-1.30085572504742	0.03666	0.1641702	-1.43191911784098	0.02937	0.1361005	0.999999836526308	0.74766	0.627647	0.40530	0	0.672317	0.65289	0	0.694767	0.63188	0	0.627883	0.49187	0	.	.	1.91	-1.19	0.09091	-0.342000	0.07848	0.605000	0.19970	-0.554000	0.04884	0.001000	0.13787	0.060000	0.22018	0.001000	0.02609	0.2472:0.0:0.5539:0.1989	4.487	0.11205	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	973.98	35	chr19	55388181	.	T	A	973.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.86;DP=835;ExcessHet=0.0000;FS=0.835;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.46;ReadPosRankSum=-2.320e-01;SOR=0.556	GT:AD:DP:GQ:PL	0/1:50,35:85:99:988,0,1309	20	0	1	0
chr19	55644594	55644594	G	A	exonic	ZNF581	.	nonsynonymous SNV	ZNF581:NM_016535:exon2:c.G23A:p.C8Y,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.085	B	0.094	B	.	.	1.000	D	0.345	N	2.89	T	-1.020	T	0.018	T	0.353	0.278	5.505	2.5	1.725	1.337	8.649	0.037	0.00969693068052	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1169462744	0	2.052e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.007	0.59928	D	0.038	0.52060	D	0.085	0.24868	B	0.094	0.30180	B	.	.	.	.	0.981855	0.25008	N	0.695	0.17993	N	2.89	0.10196	T	-0.92	0.24676	N	0.285	0.32259	-1.0205	0.23551	T	0.018	0.07518	T	9	0.10351887	0.19034	T	0.009697	0.25336	T	0.037	0.09474	0.399	0.42753	0.112648838833	0.10856	0.263952309475466	0.26308	1.31395625431	0.83289	0.652806580067	0.60385	T	0.029075	0.20915	T	-0.202237	0.20483	T	-0.528276	0.19458	T	0.148757925853728	0.17004	T	0.506149	0.16021	T	0.26654762	0.49725	0.22301999	0.47166	0.26654762	0.49725	0.22301999	0.47165	-4.505	0.30954	T	.	.	0.211	0.45049	B	.;.;.;.	.;.;.;.	2.077704	0.26423	17.11	0.62503780187152713	0.06979	0.38187	0.25932	N	AEFBCI	0.220119	0.34491	N	-0.808166955475174	0.13102	0.6430826	-0.841555605059506	0.13490	0.7001029	0.999998315165555	0.74766	0.627647	0.40530	0	0.672317	0.65289	0	0.685571	0.62057	0	0.638787	0.57140	0	.	.	2.5	2.5	0.29355	0.227000	0.17575	2.869000	0.35254	0.526000	0.24426	0.000000	0.06391	0.234000	0.23804	0.233000	0.22815	0.0:0.0:1.0:0.0	8.649	0.33186	929	0.16858	.;.;.;.	.	.	.	.	.	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	1220.98	33	chr19	55644594	.	G	A	1220.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.134e+00;DP=780;ExcessHet=0.0000;FS=4.120;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.57;ReadPosRankSum=-3.630e-01;SOR=0.342	GT:AD:DP:GQ:PL	0/1:45,45:90:99:1235,0,1417	20	0	1	0
chr19	56027338	56027338	T	G	exonic	NLRP5	.	nonsynonymous SNV	NLRP5:NM_153447:exon7:c.T1105G:p.S369A,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.52	T	0.316	B	0.219	B	0.186	N	1.000	N	0.435	N	-1.19	T	-0.913	T	0.176	T	0.059	0.093	4.502	-2.53	-0.662	0.106	1.105	0.160	0.0235409030493	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1444046913	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.571e-06	6.567e-06	1.285e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.359	0.11957	T	0.133	0.34359	T	0.316	0.32901	B	0.219	0.37734	B	0.186483	0.16962	N	0.435784	1	0.08975	N	0.805	0.20218	L	-1.19	0.78427	T	-0.67	0.19297	N	0.127	0.13911	-0.9131	0.46467	T	0.176	0.52115	T	10	0.15582001	0.29360	T	0.023541	0.46505	T	0.160	0.41473	0.673	0.81101	0.449283877778	0.44552	0.040105893195767676	0.03956	0.0382343898037	0.04063	0.287763416767	0.08596	T	0.046785	0.27527	T	-0.209403	0.19463	T	-0.53857	0.18438	T	0.266170382499695	0.23582	T	0.30387	0.05776	T	0.12683795	0.29699	0.06538309	0.13242	0.12683795	0.29698	0.06538309	0.13242	-4.692	0.33307	T	.	.	0.076	0.06479	B	.;.	.;.	-0.130992	0.03462	0.641	0.65523672114929288	0.07797	0.02890	0.07677	N	AEFDBI	0.035279	0.04514	N	-1.11764128235368	0.06329	0.2910553	-1.23968216392163	0.05286	0.2514795	1.97800839564825E-4	0.05898	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	3.14	-2.53	0.05959	0.158000	0.16239	-1.276000	0.05839	0.642000	0.52262	0.000000	0.06391	0.000000	0.08366	0.034000	0.13613	0.1799:0.1309:0.3672:0.3221	1.105	0.01587	969	0.06854	NACHT nucleoside triphosphatase|NACHT nucleoside triphosphatase;NACHT nucleoside triphosphatase|NACHT nucleoside triphosphatase	.	.	.	.	.	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	3008.98	35	chr19	56027338	.	T	G	3008.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.860;DP=1058;ExcessHet=0.0000;FS=1.615;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.37;ReadPosRankSum=-1.144e+00;SOR=0.816	GT:AD:DP:GQ:PL	0/1:110,115:225:99:3023,0,2818	20	0	1	0
chr19	56159912	56159912	-	CCCCGGCAG	exonic	ZNF444	.	nonframeshift insertion	ZNF444:NM_001253792:exon5:c.692_693insCCCCGGCAG:p.G236_P237insSPG	.	.	425	1005	77	3	12	95	0.039656	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	1845.05	34	chr19	56159903	.	ACCCCGGCAG	ACCCCGGCAGCCCCGGCAG,A	1845.05	.	AC=1,1;AF=0.024,0.024;AN=42;BaseQRankSum=1.42;DP=777;ExcessHet=0.1072;FS=3.864;InbreedingCoeff=-0.0500;MLEAC=1,1;MLEAF=0.024,0.024;MQ=60.00;MQRankSum=0.00;QD=19.22;ReadPosRankSum=-2.150e-01;SOR=1.168	GT:AD:DP:GQ:PL	0/1:23,19,0:42:99:714,0,889,784,946,1730	19	0	1	0
chr19	56524941	56524941	T	C	exonic	ZNF471	.	nonsynonymous SNV	ZNF471:NM_001321768:exon4:c.T652C:p.C218R	.	.	407	1111	4	0	0	4	0.00179695	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	.	.	0.993	D	4.235	H	-1.96	D	0.321	D	0.745	D	0.336	2.283	13.59	0.616	-0.131	3.668	5.600	0.288	.	0.0033	0.00179712	0.0010	0.0106	0.0003	0	0	3.004e-05	0	0	0.0008409	130	154602	rs115866304	0.0003	0.0003	0.0004	0.0002	0.0111	0.0003	0.0003	0.0102	0.0098	0.0111	0.0004	0	0	0	0.0010	5.396e-06	0.0008	4.639e-05	0.0031	0.0031	0.0031	0.0030	0.0108	0.0028	0.0028	0.0100	0.0096	0.0108	0	0.0012	0	0	0	0	0	0.0009	0	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	.	.	.	.	0.804413	0.41939	D	4.065	0.97128	H	-1.96	0.85091	D	-10.22	0.98927	D	0.432	0.47115	0.321	0.87897	D	0.745	0.91309	D	9	0.009864569	0.00221	T	.	.	.	0.288	0.60691	.	.	0.940047827052	0.93942	0.21067484871761236	0.20983	0.944348631935	0.72353	0.748877644539	0.74281	T	0.302582	0.67497	T	-0.224696	0.17356	T	-0.0861413	0.64451	T	0.174116379245836	0.18855	T	0.136986	0.01082	T	0.88304216	0.89919	0.86820096	0.92742	0.88304216	0.89920	0.86820096	0.92742	-14.371	0.94200	D	.	.	0.862	0.80427	P	.	.	4.387091	0.67679	25.1	0.99379723107168205	0.61847	0.43636	0.27142	N	AEGBHCI	0.133415	0.25306	N	0.374417156005863	0.60038	4.188684	0.117625133664511	0.45451	2.80799	0.00152294535473683	0.08613	0.553676	0.25195	0	0.573888	0.26702	0	0.602189	0.34648	0	0.620846	0.47308	0	.	.	4.19	0.616	0.16789	3.804000	0.55272	.	.	0.665000	0.62972	1.000000	0.71638	0.999000	0.35428	0.999000	0.91618	0.0:0.0968:0.3256:0.5776	5.600	0.16631	988	0.01987	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1531.98	70	chr19	56524941	.	T	C	1531.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.582;DP=1114;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.78;ReadPosRankSum=-1.682e+00;SOR=0.639	GT:AD:DP:GQ:PL	0/1:70,60:130:99:1546,0,1785	20	0	1	0
chr20	845461	845461	G	T	exonic	FAM110A	.	nonsynonymous SNV	FAM110A:NM_031424:exon1:c.G657T:p.L219F	.	.	0	225	1	0	0	1	0.00221729	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.999	D	0.981	D	0.000	D	0.975	D	2.02	M	0.35	T	-0.457	T	0.292	T	0.3	4.010	20.6	4.58	2.391	0.870	11.349	0.284	0.0348766037945	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1483719349	2.053e-06	2.052e-06	1.362e-06	2.751e-06	0.0003	5.5e-07	1.5e-07	6.096e-05	2.522e-05	0	2.238e-05	0	0	0	0.0003	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.005	0.63226	D	0.016	0.60972	D	0.999	0.77913	D	0.981	0.75168	D	0.000260	0.46924	D	0.080828	0.975243	0.39172	D	2.395	0.69210	M	0.35	0.58029	T	-2.91	0.60982	D	0.206	0.22870	-0.4569	0.70171	T	0.292	0.66412	T	10	0.30593428	0.48107	T	0.034877	0.55972	D	0.284	0.60219	0.534	0.64293	0.422646075125	0.41881	0.6796764842482914	0.67906	1.88169425926	0.92614	0.612136244774	0.54618	T	0.161349	0.50556	T	-0.0664227	0.41897	T	-0.333188	0.41113	T	0.837412893772125	0.49118	D	0.671133	0.27986	T	0.22840512	0.45559	0.35687208	0.61191	0.22840512	0.45559	0.35687208	0.61191	-10.739	0.78207	D	0.24321197614653056	0.32943	0.183	0.39630	B	.;.;.;.;.	.;.;.;.;.	3.884069	0.56469	23.7	0.99879896645488708	0.95653	0.84124	0.43208	D	AEFBCI	0.487263	0.52608	N	0.490500041669287	0.66534	4.962554	0.441516421737284	0.64172	4.666619	0.999999976312199	0.74766	0.766844	0.99359	0	0.662677	0.63036	0	0.851219	0.99655	0	0.669	0.65921	0	.	.	4.58	4.58	0.56077	1.226000	0.32167	3.335000	0.37659	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.702000	0.34203	0.0:0.0:0.8184:0.1816	11.349	0.48816	934	0.15400	Centrosome-associated, FAM110, C-terminal domain;Centrosome-associated, FAM110, C-terminal domain;Centrosome-associated, FAM110, C-terminal domain;Centrosome-associated, FAM110, C-terminal domain;Centrosome-associated, FAM110, C-terminal 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	1392.98	41	chr20	845461	.	G	T	1392.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.202e+00;DP=971;ExcessHet=0.0000;FS=1.635;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.52;ReadPosRankSum=0.086;SOR=0.496	GT:AD:DP:GQ:PL	0/1:50,53:103:99:1407,0,1329	20	0	1	0
chr20	1552020	1552020	T	G	exonic	SIRPD	.	nonsynonymous SNV	SIRPD:NM_178460:exon2:c.A92C:p.H31P,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.11	T	0.494	P	0.17	B	0.162	U	1.000	N	0.69	N	-0.06	T	-0.979	T	0.140	T	0.379	1.148	9.676	0.911	0.059	0.167	3.41	0.064	0.00379540286764	.	.	.	.	.	.	.	.	.	.	.	.	.	rs866429642	3.423e-06	3.42e-06	4.086e-06	2.752e-06	0.0003	1e-06	7.3e-07	6.096e-05	2.522e-05	0	0	0	0	0	0.0003	8.998e-07	1.657e-05	1.161e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.007	0.59928	D	0.117	0.48080	T	0.494	0.37037	P	0.17	0.35299	B	0.162353	0.03048	U	2.036330	1	0.08975	N	1.15	0.29295	L	-0.06	0.63568	T	-1.39	0.34397	N	0.116	0.12055	-0.9786	0.35322	T	0.140	0.45828	T	10	0.2500636	0.42327	T	0.003795	0.08837	T	0.064	0.18567	0.407	0.44066	0.276482976112	0.27267	0.38029547572217576	0.37944	0.251371934609	0.27716	0.308401733637	0.11666	T	0.021797	0.16915	T	-0.0949454	0.37259	T	-0.374159	0.36403	T	0.261879444122314	0.23397	T	0.341666	0.07715	T	0.58575094	0.71921	0.3329144	0.59134	0.58575094	0.71922	0.3329144	0.59134	-5.13	0.38221	T	.	.	0.114	0.22825	B	.;.;.	.;.;.	1.670061	0.21294	15.14	0.70043363426890071	0.09167	0.03727	0.09019	N	AEFBI	0.079402	0.16036	N	-0.831756473631622	0.12503	0.6098716	-0.943075516119051	0.11084	0.562521	0.00264352456749819	0.09600	0.516011	0.20929	0	0.610034	0.51514	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	3.36	0.911	0.18471	-0.017000	0.12529	-1.001000	0.06646	0.587000	0.30956	0.000000	0.06391	0.000000	0.08366	0.022000	0.11911	0.0:0.1324:0.2372:0.6304	3.41	0.06928	946	0.12043	Immunoglobulin-like domain;Immunoglobulin-like 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	1383.98	44	chr20	1552020	.	T	G	1383.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.137e+00;DP=950;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.25;ReadPosRankSum=-1.045e+00;SOR=0.662	GT:AD:DP:GQ:PL	0/1:66,57:123:99:1398,0,1856	20	0	1	0
chr20	2102135	2102135	G	C	exonic	STK35	.	nonsynonymous SNV	STK35:NM_080836:exon1:c.G254C:p.G85A,	.	.	442	1018	58	4	0	66	0.0313987	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.0	B	0.0	B	.	.	1.000	N	0	N	-0.27	T	-1.000	T	0.088	T	0.108	0.736	7.910	-1.58	-0.129	0.219	4.043	0.048	.	.	0.00499201	0.0290	0	0.0312	0	.	0.0226	0	0.0336	0.0022509	348	154602	rs35569160	0.0093	0.0086	0.0090	0.0096	0.0207	0.0091	0.0091	0.0172	0.0168	0.0013	0.0037	0.0145	3.46e-05	0.0030	0.0207	0.0093	0.0106	0.0181	0.0065	0.0065	0.0067	0.0064	0.0183	0.0062	0.0061	0.0152	0.0140	0.0017	0.0022	0.0057	0.0130	0.0002	0.0028	0.0171	0.0096	0.0062	0.0183	0.969	0.02057	T	0.955	0.02582	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.20048	N	0.345	0.11182	N	-0.27	0.67367	T	-0.31	0.12099	N	0.087	0.06454	-1.0002	0.29860	T	0.088	0.33885	T	9	0.0032199621	0.00055	T	.	.	.	0.048	0.13305	.	.	0.550461726676	0.54703	0.16462568001023903	0.16382	1.13840482688	0.78847	0.568786382675	0.48506	T	0.003846	0.03252	T	-0.455329	0.01050	T	-0.411889	0.32008	T	0.0035260295607513	0.00037	T	0.478252	0.14398	T	0.026215747	0.01651	0.049031965	0.07407	0.026215747	0.01651	0.049031965	0.07407	-3.411	0.15204	T	.	.	0.065	0.01859	B	.	.	0.154691	0.05464	1.931	0.712979375028716	0.09582	0.12875	0.17532	N	ALL	0.041294	0.06258	N	-1.46821197340051	0.02078	0.09137222	-1.46390537359334	0.02646	0.1220965	0.999999999998893	0.74766	0.024636	0.00146	3	0.218748	0.04544	0	0.239995	0.05000	1	0.56214	0.19341	0	.	.	3.98	-1.58	0.08029	-0.011000	0.12659	0.363000	0.17596	-0.212000	0.08331	0.000000	0.06391	0.226000	0.23749	0.044000	0.14658	0.4268:0.1785:0.3947:0.0	4.043	0.09242	806	0.43582	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.04762	1148.11	37	chr20	2102135	.	G	C	1148.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-2.030e-01;DP=808;ExcessHet=0.1072;FS=1.762;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=13.05;ReadPosRankSum=1.74;SOR=0.962	GT:AD:DP:GQ:PL	0/1:20,31:51:99:820,0,497	19	0	2	0
chr20	2613212	2613212	G	C	exonic	TMC2	.	nonsynonymous SNV	TMC2:NM_080751:exon14:c.G1762C:p.V588L,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.988	D	0.951	D	0.000	D	1.000	D	0.855	L	-0.07	T	-0.427	T	0.304	T	0.744	4.234	22.0	4.93	2.460	6.494	16.034	0.345	0.026206664894	0.0004	0.000199681	9.919e-05	0.0012	0	0	0	0	0	0	8.41e-05	13	154602	rs139352965	3.558e-05	3.557e-05	4.221e-05	2.889e-05	0.0011	2.763e-05	2.502e-05	0.0008	0.0007	0.0011	8.945e-05	0	0	0	0	0	0.0001	2.319e-05	0.0003	0.0003	0.0003	0.0003	0.0008	0.0002	0.0002	0.0006	0.0005	0.0008	0	6.54e-05	0	0	0	0	1.47e-05	0.0009	0	0.004	0.65419	D	0.01	0.65728	D	0.988	0.62325	D	0.951	0.68939	D	0.000000	0.84330	D	0.000000	0.999958	0.52396	D	1.23	0.30720	L	-0.07	0.63738	T	-2.45	0.53577	N	0.776	0.77319	-0.4271	0.71160	T	0.304	0.67482	T	10	0.31144148	0.48613	T	0.026207	0.49134	D	0.345	0.66676	0.825	0.93657	0.644949520829	0.64201	0.8129207860076816	0.81248	0.54932072532	0.51839	0.744514465332	0.73637	T	0.048312	0.27980	T	-0.165991	0.25843	T	-0.0675592	0.65800	T	0.129795348455561	0.15363	T	0.961404	0.85511	D	0.55701846	0.70345	0.4032623	0.64786	0.55701846	0.70346	0.4032623	0.64786	-10.917	0.79201	D	.	.	0.325	0.54854	B	.	.	4.915418	0.80911	27.4	0.99784264366297881	0.87043	0.97060	0.72457	D	AEFDBI	0.797835	0.72456	D	0.54981534492074	0.70071	5.447933	0.586103825697737	0.73942	6.053775	0.944332831332012	0.27610	0.497415	0.19182	0	0.59043	0.45803	0	0.563428	0.18855	0	0.542086	0.14980	0	.	.	4.93	4.93	0.64394	6.613000	0.74063	11.855000	0.98181	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.977000	0.56843	0.0:0.0:1.0:0.0	16.034	0.80411	740	0.53092	TMC 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	1348.98	35	chr20	2613212	.	G	C	1348.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.35;DP=761;ExcessHet=0.0000;FS=0.908;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=18.74;ReadPosRankSum=-8.570e-01;SOR=0.932	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:36,36:72:99:0|1:2613212_G_C:1363,0,1400:2613212	20	0	1	0
chr20	3803192	3803192	G	C	exonic	CDC25B	.	nonsynonymous SNV	CDC25B:NM_001287524:exon9:c.G766C:p.G256R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.000	D	1.000	D	2.805	M	1.81	T	-0.672	T	0.200	T	0.989	4.476	23.9	5.24	2.630	7.128	16.698	0.774	0.123202022054	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0006	0.0011	0.0007	0.0006	0.0008	0.0006	0.0006	0.0007	0.0007	0.0006	0	0.0002	7.607e-05	0	0.0002	0.0008	0.0004	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.91255	D	0.002	0.79402	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.085	0.87354	M	1.81	0.25182	T	-7.58	0.95276	D	0.931	0.98268	-0.6717	0.61752	T	0.200	0.55640	T	10	0.98157537	0.98189	D	0.123202	0.80433	D	0.774	0.92419	0.92	0.98568	0.736929849786	0.73457	0.9132364924811667	0.91297	2.14713465814	0.95289	0.696103453636	0.66582	T	0.201973	0.83660	T	0.280949	0.81396	D	0.165788	0.81157	D	0.999002754688263	0.95858	D	0.989968	0.96869	D	0.92810935	0.94047	0.8602535	0.92196	0.92810935	0.94048	0.8602535	0.92197	-11.248	0.81537	D	.	.	0.994	0.95995	P	.;.;.;.;.	.;.;.;.;.	5.603180	0.92472	32	0.99900572155913103	0.97275	0.97177	0.73143	D	AEFGBCI	0.864053	0.78274	D	0.851518238386656	0.89196	9.872593	0.791774268680612	0.89217	9.884684	0.999999999996727	0.74766	0.706548	0.73137	0	0.696144	0.67643	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.24	5.24	0.72863	7.420000	0.79394	11.730000	0.94979	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.879000	0.42020	0.0:0.0:1.0:0.0	16.698	0.85199	809	0.43032	Rhodanese-like domain|Rhodanese-like domain|Rhodanese-like domain;Rhodanese-like domain|Rhodanese-like domain|Rhodanese-like domain;Rhodanese-like domain|Rhodanese-like domain|Rhodanese-like domain;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.381	3189.23	101	chr20	3803192	.	G	C	3189.23	.	AC=16;AF=0.381;AN=42;BaseQRankSum=-1.821e+00;DP=2547;ExcessHet=20.9642;FS=188.196;InbreedingCoeff=-0.6177;MLEAC=16;MLEAF=0.381;MQ=60.00;MQRankSum=0.00;QD=1.88;ReadPosRankSum=1.63;SOR=13.596	GT:AD:DP:GQ:PL	0/1:77,42:128:99:150,0,1491	5	0	16	0
chr20	3889432	3889432	-	G	exonic	PANK2	.	frameshift insertion	PANK2:NM_001324192:exon1:c.333dupG:p.L115Afs*66	HARP syndrome, Autosomal recessive;Neurodegeneration with brain iron accumulation 1, Autosomal recessive	.	2	1347	162	10	1	183	0.0632823	.	.	1315110	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_pathogenic	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0003	0	0	0	0	0	0	0.0011	3.84e-05	1	26028	rs529267374	3.404e-05	3.694e-05	2.247e-05	4.583e-05	0.0005	2.636e-05	2.331e-05	0.0004	0.0003	0	0	0	0	2.506e-05	0	1.833e-06	8.54e-05	0.0005	1.97e-05	1.969e-05	0	4.029e-05	0.0006	5.24e-06	2.45e-06	0.0002	8.985e-05	0	0	0	0	0	0	0	0	0	0.0006	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	3297.39	35	chr20	3889432	.	T	A,TG	3297.39	.	AC=2,1;AF=0.048,0.024;AN=42;BaseQRankSum=0.640;DP=907;ExcessHet=0.3300;FS=2.747;InbreedingCoeff=-0.0769;MLEAC=2,1;MLEAF=0.048,0.024;MQ=60.00;MQRankSum=0.00;QD=12.73;ReadPosRankSum=0.397;SOR=0.876	GT:AD:DP:GQ:PL	0/1:54,59,0:113:99:1531,0,1309,1693,1486,3179	18	0	2	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	0/1:76,23:99:3:3,0,1841	12	0	4	5
chr20	31389213	31389213	C	T	exonic	DEFB119	.	nonsynonymous SNV	DEFB119:NM_001271209:exon2:c.G76A:p.G26R	.	.	422	1097	3	0	0	3	0.0013655	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.985	D	0.728	P	0.001	D	0.946	N	.	.	0.01	T	-0.819	T	0.246	T	0.47	2.919	15.73	1.9	0.590	0.478	5.225	0.247	0.0209983048538	0.0007	.	0.0008	0	0.0010	0	0.0003	0.0012	0.0022	6.056e-05	0.0007374	114	154602	rs142077212	0.0006	0.0006	0.0006	0.0006	0.0012	0.0006	0.0005	0.0010	0.0009	5.974e-05	0.0012	0.0129	0	0.0001	0.0012	0.0003	0.0013	4.637e-05	0.0007	0.0007	0.0008	0.0007	0.0006	0.0006	0.0006	0.0005	0.0004	7.243e-05	0	0.0005	0.0153	0	0.0003	0	0.0006	0.0014	0	0.0	0.91255	D	0.0	0.92824	D	0.985	0.61118	D	0.728	0.55195	P	0.000924	0.41028	D	0.000000	0.945862	0.37504	D	.	.	.	0.01	0.62459	T	-7.63	0.95424	D	0.584	0.60495	-0.8191	0.53990	T	0.246	0.61471	T	9	0.008507341	0.00193	T	0.020998	0.43698	T	0.247	0.55478	0.457	0.52265	0.523961927912	0.52041	0.7615457523478305	0.76102	0.169751536395	0.19140	0.408201873302	0.26208	T	.	.	.	-0.329936	0.06116	T	-0.292259	0.45538	T	0.17903807759285	0.19174	T	0.639136	0.25234	T	.	.	.	.	.	.	.	.	-7.619	0.58443	D	.	.	0.734	0.74380	P	.	.	2.230002	0.28468	17.81	0.99868664691009734	0.94637	0.07342	0.13364	N	AEFDGBI	0.044842	0.07264	N	-0.0480094877578519	0.39690	2.344779	-0.182382857139057	0.32183	1.828515	9.05377005907234E-5	0.04703	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.87	1.9	0.24770	0.484000	0.22017	0.391000	0.17890	0.599000	0.40250	0.208000	0.24400	0.052000	0.21854	0.991000	0.66497	0.0:0.6747:0.2109:0.1143	5.225	0.14708	519	0.74455	.	.	.	.	.	.	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	510.98	33	chr20	31389213	.	C	T	510.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.284e+00;DP=731;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.17;ReadPosRankSum=0.718;SOR=0.743	GT:AD:DP:GQ:PL	0/1:22,20:42:99:525,0,637	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	0/1:82,44:131:99:214,0,1194	2	0	19	0
chr20	41354711	41354711	C	T	exonic	LPIN3	.	stopgain	LPIN3:NM_001301860:exon12:c.C1597T:p.R533X	.	.	379	1142	0	1	0	2	0.000874891	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000	D	1.000	A	.	.	.	.	.	.	.	.	.	6.791	38	-0.589	0.144	-0.084	11.591	.	.	0.0005	0.000399361	0.0003	0	0.0004	0	0	0.0004	0.0012	0	0.0002587	40	154602	rs140359632	0.0005	0.0006	0.0006	0.0005	0.0007	0.0005	0.0005	0.0006	0.0006	5.991e-05	0.0004	0	2.53e-05	3.763e-05	0.0003	0.0007	0.0004	2.349e-05	0.0003	0.0003	0.0005	0.0002	0.0007	0.0003	0.0002	0.0004	0.0003	0.0001	0	0.0007	0	0	0	0.0034	0.0005	0.0005	0	.	.	.	.	.	.	.	.	.	.	.	.	0.000000	0.84330	D	0.000000	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.236	0.26596	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.311252	0.83837	D	0.558747	0.95874	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive;.	High;.	8.425984	0.97550	37	0.99662723093759287	0.78074	0.78133	0.38504	D	AEFBI	0.413334	0.48305	N	0.602251624601492	0.73316	5.946416	0.356880504301243	0.58924	4.066081	9.71398828318723E-5	0.04910	0.706298	0.61202	0	0.670034	0.63936	0	0.709663	0.75317	0	0.567892	0.33627	0	.	.	5.21	-0.589	0.11097	-0.328000	0.07988	0.137000	0.15122	0.599000	0.40250	0.357000	0.25817	0.908000	0.28083	0.975000	0.56047	0.4801:0.4321:0.0877:0.0	11.591	0.50203	957	0.09725	.;.	.	.	.	.	.	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	847.98	34	chr20	41354711	.	C	T	847.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.480e-01;DP=802;ExcessHet=0.0000;FS=0.799;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.32;ReadPosRankSum=0.270;SOR=0.820	GT:AD:DP:GQ:PL	0/1:53,38:91:99:862,0,1240	20	0	1	0
chr20	44727357	44727357	C	G	exonic	CCN5	.	nonsynonymous SNV	CCN5:NM_001323369:exon3:c.C556G:p.P186A,	.	.	420	1077	24	1	0	26	0.0119266	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.484	P	0.133	B	.	.	1.000	N	.	.	-0.52	T	-0.883	T	0.189	T	0.16	-0.128	3.374	1.39	0.544	0.377	5.050	0.094	.	0.0012	0.00259585	0.0043	0.0003	0.0037	0	0.0003	0.0043	0.0061	0.0119	0.0020375	315	154602	rs142405609	0.0016	0.0017	0.0015	0.0018	0.0223	0.0016	0.0016	0.0191	0.0179	0.0005	0.0015	0.0240	2.67e-05	3.968e-05	0.0223	0.0008	0.0036	0.0057	0.0016	0.0016	0.0017	0.0015	0.0056	0.0014	0.0014	0.0039	0.0034	0.0002	0	0.0008	0.0239	0	0	0.0170	0.0014	0.0066	0.0056	0.0	0.91255	D	0.041	0.50514	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	-0.52	0.70717	T	-0.66	0.19085	N	0.176	0.18920	-0.8830	0.49521	T	0.189	0.54079	T	8	0.0037848055	0.00071	T	.	.	.	0.094	0.27141	.	.	0.310458034454	0.30648	.	.	.	.	.	.	.	.	.	.	-0.427082	0.01544	T	-0.383082	0.35361	T	0.0364771452821099	0.03063	T	0.232477	0.03154	T	.	.	.	.	.	.	.	.	-3.405	0.15123	T	.	.	0.073	0.04681	B	.	.	0.410365	0.07812	4.505	0.26924644678525839	0.01312	0.11559	0.16714	N	AEFDGBHCI	0.092008	0.18630	N	-0.752703406160392	0.14559	0.7263035	-0.906077549568754	0.11950	0.6119481	0.999999924464166	0.74766	0.615755	0.39536	0	0.547309	0.14657	0	0.618376	0.41669	0	0.613276	0.41899	0	.	.	2.34	1.39	0.21325	0.453000	0.21523	0.646000	0.20366	0.389000	0.20474	0.021000	0.19753	0.000000	0.08366	0.005000	0.06747	0.0:0.8256:0.0:0.1744	5.050	0.13841	537	0.73184	.	.	.	.	.	.	Likely benign	0	0	0	0	0	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	803.98	33	chr20	44727357	.	C	G	803.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.400e-02;DP=753;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.63;ReadPosRankSum=1.05;SOR=0.584	GT:AD:DP:GQ:PL	0/1:28,31:59:99:818,0,765	20	0	1	0
chr20	51009725	51009725	C	T	exonic	KCNG1	.	nonsynonymous SNV	KCNG1:NM_002237:exon2:c.G614A:p.R205H,	.	.	.	.	.	.	.	.	.	.	.	2678348	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	.	.	0.049	B	0.027	B	0.053	N	0.985	D	2.755	M	-2.79	D	0.101	D	0.921	D	0.138	3.258	16.93	4.71	1.392	3.924	10.477	0.417	0.0739136839484	7.7e-05	.	8.267e-05	0	0	0	0	0.0002	0	0	5.82e-05	9	154602	rs368678625	5.093e-05	5.199e-05	4.383e-05	5.81e-05	0.0005	4.151e-05	3.801e-05	0.0001	7.565e-05	0	2.247e-05	0.0012	0	0	0.0005	1.891e-05	0.0001	0.0001	3.941e-05	3.94e-05	3.853e-05	4.033e-05	0.0002	1.715e-05	1.129e-05	.	.	2.411e-05	0	0	0.0009	0	0	0	1.47e-05	0	0.0002	0.018	0.63226	D	0.059	0.64786	T	0.004	0.12183	B	0.008	0.13708	B	0.052555	0.02038	N	2.221840	0.985363	0.40274	D	3.175	0.88760	M	-4.72	0.98051	D	-2.23	0.52776	N	0.099	0.08088	0.101	0.84196	D	0.921	0.97392	D	9	0.13250375	0.25218	T	0.073914	0.71909	D	0.417	0.72705	.	.	0.995002090524	0.99495	0.5872879773663684	0.58658	1.52655298953	0.87511	0.436934888363	0.30158	T	0.325308	0.69603	T	-0.0325554	0.47045	T	-0.0809402	0.64835	T	0.236240186500235	0.22245	T	0.711029	0.32612	T	0.1964577	0.41474	0.08373228	0.19212	0.1964577	0.41473	0.08373228	0.19212	-7.447	0.57236	T	.	.	0.121	0.25232	B	.;.	.;.	3.369195	0.46553	22.3	0.99805075462462223	0.88906	0.96056	0.67333	D	AEFDGBI	0.424665	0.48975	N	0.0575717186090372	0.44491	2.722227	0.174222722862061	0.48438	3.059801	0.993729944449324	0.33329	0.695654	0.57023	0	0.610034	0.51514	0	0.723109	0.80598	0	0.542086	0.14980	0	.	.	5.65	4.71	0.59010	3.161000	0.50446	0.751000	0.21237	0.520000	0.23804	1.000000	0.71638	0.999000	0.35428	0.967000	0.53440	0.0:0.8502:0.0:0.1498	10.477	0.43856	851	0.35303	.;.	.	.	.	.	.	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	0.04762	7106.08	33	chr20	51009725	.	C	T	7106.08	.	AC=2;AF=0.048;AN=42;DP=948;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;QD=32.90;SOR=0.712	GT:AD:DP:GQ:PL	1/1:0,216:216:99:7134,647,0	20	1	0	0
chr20	53576128	53576128	T	C	exonic	ZNF217	.	nonsynonymous SNV	ZNF217:NM_001385034:exon4:c.A2636G:p.N879S	.	.	429	1092	1	0	0	1	0.000457666	.	.	3350197	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.3	T	0.004	B	0.001	B	0.413	N	1.000	N	1.355	L	3.0	T	-0.966	T	0.018	T	0.006	1.442	10.76	-0.927	-0.547	0.303	1.756	0.044	0.015125770467	0.0002	0.000399361	0.0002	0.0004	0.0002	0.0002	0	8.992e-05	0	0.0006	0.0001746	27	154602	rs371075866	9.166e-05	9.166e-05	7.623e-05	0.0001	0.0005	7.89e-05	7.365e-05	0.0003	0.0003	0.0004	6.708e-05	0	0.0001	0	0.0003	5.935e-05	9.934e-05	0.0005	9.194e-05	9.186e-05	0.0001	6.714e-05	0.0002	5.525e-05	4.362e-05	6.27e-05	4.291e-05	0.0001	0	0.0002	0	0	0	0	5.881e-05	0	0.0002	0.235	0.18000	T	0.602	0.07894	T	0.004	0.12183	B	0.001	0.04355	B	0.412628	0.12976	N	0.713544	1	0.08975	N	1.7	0.43825	L	3.0	0.09167	T	-0.93	0.24898	N	0.077	0.05162	-0.9663	0.37954	T	0.018	0.07565	T	10	0.019126713	0.00423	T	0.015126	0.35682	T	0.044	0.11924	.	.	0.128874641272	0.12493	0.04949757344733032	0.04892	0.182931681064	0.20578	0.42260786891	0.28195	T	0.082338	0.36804	T	-0.64203	0.00081	T	-0.810577	0.01652	T	0.00577418372056042	0.00063	T	0.470053	0.13899	T	0.024958396	0.01380	0.022884104	0.00306	0.024958396	0.01380	0.022884104	0.00306	-3.415	0.15259	T	.	.	0.066	0.02927	B	.;.	.;.	-0.055236	0.03916	0.865	0.67043476611691055	0.08237	0.05758	0.11688	N	AEFBCI	0.021393	0.00948	N	-1.01478669307236	0.08296	0.3884976	-1.08318712215249	0.08031	0.3931375	0.999992722408554	0.74766	0.706548	0.73137	0	0.685571	0.66316	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	4.56	-0.927	0.09920	0.365000	0.20076	0.073000	0.14287	0.665000	0.62972	0.170000	0.23934	0.034000	0.21380	0.006000	0.07323	0.1394:0.3419:0.1436:0.3752	1.756	0.02803	990	0.01402	.;.	.	.	.	.	.	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	2372.98	80	chr20	53576128	.	T	C	2372.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.360e-01;DP=1308;ExcessHet=0.0000;FS=1.160;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.11;ReadPosRankSum=-5.760e-01;SOR=0.811	GT:AD:DP:GQ:PL	0/1:91,90:181:99:2387,0,2412	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	1|1:1,10,0:13:2:1|1:62813229_ATCGGAGACCCCAGGCCCCCGCCCAGCAGGACCTGCAGGGGACGAGCCAGCCGAGAGCCCATCGGAGACCCCAGGCCCCCGCCCG_A:423,2,0,445,78,774:62813229	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	2|2:1,0,10:13:2:1|1:62813229_ATCGGAGACCCCAGGCCCCCGCCCAGCAGGACCTGCAGGGGACGAGCCAGCCGAGAGCCCATCGGAGACCCCAGGCCCCCGCCCG_A:423,445,774,2,78,0:62813229	4	1	4	10
chr20	62813433	62813433	G	0	exonic	OGFR	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1842	1104.12	25	chr20	62813433	.	G	A,*	1104.12	.	AC=5,2;AF=0.132,0.053;AN=38;BaseQRankSum=1.31;DP=480;ExcessHet=0.0090;FS=0.835;InbreedingCoeff=0.4177;MLEAC=5,2;MLEAF=0.132,0.053;MQ=52.89;MQRankSum=0.203;QD=11.27;ReadPosRankSum=1.31;SOR=0.830	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,17,0:17:51:.:.:543,51,0,543,51,543	14	1	3	2
chr20	62836323	62836323	C	T	exonic	COL9A3	.	nonsynonymous SNV	COL9A3:NM_001853:exon28:c.C1538T:p.P513L,	Epiphyseal dysplasia, multiple, 3, with or without myopathy, Autosomal dominant	YES	0	1521	1	0	0	1	0.000328623	.	.	492649	not_provided|not_specified	MedGen:C3661900|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.05	D	0.992	D	0.641	P	0.000	D	1.000	D	2.445	M	-4.09	D	0.936	D	0.887	D	0.463	2.574	14.57	4.63	2.117	1.226	13.354	0.500	0.492009891896	.	0.000599042	7.55e-05	0.0001	8.703e-05	0	0	7.627e-05	0	0.0001	0.0001035	16	154602	rs202094480	6.364e-05	6.498e-05	6.128e-05	6.602e-05	0.0010	5.296e-05	4.912e-05	0.0005	0.0003	0.0003	0.0001	3.827e-05	0.0002	0	0.0010	3.507e-05	0.0003	8.115e-05	6.562e-05	6.561e-05	7.706e-05	5.367e-05	0.0006	3.512e-05	2.613e-05	0.0002	8.375e-05	4.808e-05	0	0	0	0.0006	0	0	7.349e-05	0	0	0.15	0.24661	T	0.144	0.33109	T	0.992	0.64738	D	0.641	0.52117	P	0.000016	0.62929	D	0.115400	0.999981	0.54805	D	2.82	0.82106	M	-4.09	0.96627	D	-2.06	0.47175	N	0.531	0.55972	0.936	0.96183	D	0.887	0.96251	D	10	0.42572823	0.57160	T	0.49201	0.95014	D	0.500	0.78350	.	.	0.903751906446	0.90279	0.4917483548364823	0.49095	0.417224693402	0.42347	0.586887657642	0.51056	T	0.375991	0.73948	T	0.0430683	0.57447	T	0.00623502	0.70739	D	0.198393984386786	0.20327	T	0.89721	0.64041	D	0.0885993	0.20673	0.08384448	0.19245	0.0885993	0.20673	0.08384448	0.19245	-8.827	0.66576	D	.	.	0.072	0.04396	B	.;.	.;.	4.712404	0.75714	26.4	0.99801397416488058	0.88639	0.30625	0.24130	N	AEFDGBIJ	0.319891	0.42316	N	0.0259768132827832	0.43038	2.60472	-0.149292357982889	0.33437	1.912565	0.999999999648316	0.74766	0.634777	0.41761	0	0.588066	0.40923	0	0.643519	0.47002	0	0.604944	0.38103	0	.	.	4.63	4.63	0.57175	1.379000	0.33946	7.476000	0.59206	0.599000	0.40250	0.165000	0.23867	1.000000	0.68203	0.036000	0.13842	0.1583:0.8417:0.0:0.0	13.354	0.60063	828	0.39726	.;.	.	.	.	.	.	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	1119.98	34	chr20	62836323	.	C	T	1119.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.04;DP=871;ExcessHet=0.0000;FS=1.834;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.83;ReadPosRankSum=0.142;SOR=0.954	GT:AD:DP:GQ:PL	0/1:40,41:81:99:1134,0,960	20	0	1	0
chr21	13610565	13610565	G	A	exonic	POTED	.	nonsynonymous SNV	POTED:NM_174981:exon1:c.G337A:p.G113S,	.	.	444	172	461	445	0	1351	0.79705	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.65	T	1.0	D	0.937	D	.	.	1.000	N	1.445	L	1.66	T	-0.997	T	0.095	T	0.13	0.280	5.514	-0.732	-0.424	-1.528	.	0.029	0.00277741158105	.	.	.	.	.	.	.	.	.	.	0.033169	5128	154602	rs6517869	1.401e-05	6.993e-05	3.992e-06	2.407e-05	6.081e-05	8.13e-06	6.36e-06	1.007e-05	3.77e-06	0	6.081e-05	0	0	5.033e-05	0	8.892e-06	2.573e-05	3.286e-05	0	0.0001	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.153	0.24372	T	0.043	0.49942	D	1.0	0.90584	D	0.937	0.67262	D	.	.	.	.	1	0.08975	N	1.15	0.29295	L	1.66	0.27486	T	-1.24	0.31375	N	0.08	0.05542	-0.9968	0.30810	T	0.095	0.35818	T	8	0.068237185	0.09622	T	0.002777	0.05781	T	0.029	0.06676	0.202	0.11659	0.0934897674506	0.08844	0.04415967261073172	0.04359	.	.	0.431079089642	0.29356	T	0.012796	0.11182	T	-0.31698	0.07148	T	-0.693096	0.06212	T	0.036694748014754	0.03102	T	0.636336	0.25008	T	0.046982475	0.07955	0.08034204	0.18165	0.046982475	0.07954	0.08034204	0.18164	-7.591	0.58248	D	.	.	0.092	0.21163	B	.;.	.;.	1.490668	0.19177	14.13	0.9114633486319289	0.20400	0.00123	0.00769	N	AEFI	0.021764	0.01007	N	-0.750059816202474	0.14632	0.7304896	-1.05968458506513	0.08505	0.4185625	1.33632449358699E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.418	-0.732	0.10585	-1.777000	0.01877	.	.	0.323000	0.19410	0.000000	0.06391	0.000000	0.08366	0.007000	0.07825	.	.	.	.	.	.;.	.	.	.	.	.	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	80837.62	225	chr21	13610565	.	G	A	80837.62	.	AC=21;AF=0.500;AN=42;BaseQRankSum=2.08;DP=4336;ExcessHet=0.5132;FS=0.571;InbreedingCoeff=0.1429;MLEAC=21;MLEAF=0.500;MQ=53.68;MQRankSum=-8.647e+00;QD=20.17;ReadPosRankSum=-1.350e-01;SOR=0.768	GT:AD:DP:GQ:PL	0/1:136,135:271:99:3722,0,3272	6	6	9	0
chr21	13610631	13610631	A	G	exonic	POTED	.	nonsynonymous SNV	POTED:NM_174981:exon1:c.A403G:p.I135V,	.	.	439	188	453	442	0	1337	0.780502	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.0	B	0.0	B	.	.	1.000	P	-1.67	N	0.69	T	-1.046	T	0.001	T	0.1	-2.566	0.003	-2.58	-1.089	-2.921	5.628	0.027	0.00179256116657	.	.	.	.	.	.	.	.	.	.	0.175004	4555	26028	rs6517870	0.0002	0.0006	0.0002	0.0002	0.0010	0.0002	0.0002	0.0007	0.0006	0	0.0010	0	0	0.0019	0	0.0001	7.755e-05	3.326e-05	0.0002	0.0008	0.0001	0.0003	0.0011	0.0001	0.0001	0.0006	0.0005	0	0	0.0011	0	0	0.0004	0	8.695e-05	0	0	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	P	0.955	0.23872	L	0.69	0.51714	T	0.21	0.04776	N	0.013	0.00142	-1.0463	0.15447	T	0.001	0.00408	T	8	0.01186794	0.00257	T	0.001793	0.03063	T	0.027	0.05988	.	.	0.043077524339	0.03247	0.057245171207421994	0.05665	.	.	0.60823392868	0.54066	T	0.003659	0.03070	T	-0.325257	0.06477	T	-0.704986	0.05557	T	0.0231726184936854	0.01044	T	0.405359	0.11777	T	0.018582096	0.00380	0.026746769	0.00781	0.018582096	0.00379	0.026746769	0.00780	-2.614	0.06610	T	.	.	0.071	0.06571	B	.;.	.;.	-1.090417	0.00652	0.018	0.18791234627756773	0.00606	0.00044	0.00357	N	AEFI	0.015589	0.00305	N	-2.40962434727351	0.00026	0.001112248	-2.38906535767928	0.00042	0.001829696	4.90101459551143E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.29	-2.58	0.05866	-2.318000	0.01202	.	.	-2.102000	0.00394	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.5692:0.0:0.4308:0.0	5.628	0.16773	.	.	.;.	.	.	.	.	.	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	59193.62	215	chr21	13610631	.	A	G	59193.62	.	AC=21;AF=0.500;AN=42;BaseQRankSum=-3.130e-01;DP=3704;ExcessHet=0.5132;FS=4.353;InbreedingCoeff=0.1429;MLEAC=21;MLEAF=0.500;MQ=48.41;MQRankSum=-1.386e+01;QD=17.52;ReadPosRankSum=0.974;SOR=1.008	GT:AD:DP:GQ:PL	0/1:139,104:243:99:2573,0,3910	6	6	9	0
chr21	13641414	13641414	A	G	exonic	POTED	.	nonsynonymous SNV	POTED:NM_174981:exon11:c.A1603G:p.M535V,	.	.	518	268	324	412	0	1148	0.68171	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.96	T	0.053	B	0.007	B	.	.	1.000	N	1.335	L	2.51	T	-0.946	T	0.021	T	0.32	0.122	4.658	2.1	0.975	1.396	3.884	0.056	0.000925184405604	.	.	.	.	.	.	.	.	.	.	0.0332984	5148	154602	rs9980783	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.215	0.19293	T	0.265	0.22694	T	0.053	0.22573	B	0.007	0.12992	B	.	.	.	.	0.999995	0.08975	N	1.295	0.32453	L	2.51	0.14284	T	-0.92	0.24676	N	0.112	0.09914	-0.9460	0.41648	T	0.021	0.08870	T	9	0.058576673	0.06907	T	9.25E-4	0.00889	T	0.056	0.15993	0.204	0.11936	0.0675242888579	0.06100	0.017058676146940573	0.01660	.	.	0.862693071365	0.91508	D	0.009423	0.08576	T	-0.65755	0.00065	T	-0.573482	0.15131	T	0.0619566306163236	0.07473	T	0.571043	0.20346	T	0.060948554	0.12567	0.09257506	0.21825	0.060948554	0.12567	0.09257506	0.21824	-3.238	0.12951	T	.	.	0.097	0.15788	B	.	.	0.712273	0.10810	7.493	0.4975947206577841	0.04266	0.04450	0.10053	N	AEFI	0.042990	0.06739	N	-0.991022779855283	0.08795	0.4137322	-1.03117548479235	0.09104	0.4510756	2.3450725238948E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	2.1	2.1	0.26226	1.579000	0.36145	.	.	0.351000	0.19951	0.307000	0.25387	0.000000	0.08366	0.054000	0.15518	0.8091:0.0:0.1909:0.0	3.884	0.08596	.	.	CCDC144C-like, coiled-coil domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	43117.62	207	chr21	13641414	.	A	G	43117.62	.	AC=21;AF=0.500;AN=42;BaseQRankSum=-1.110e+00;DP=2761;ExcessHet=0.5132;FS=0.565;InbreedingCoeff=0.1429;MLEAC=21;MLEAF=0.500;MQ=58.03;MQRankSum=-1.526e+00;QD=17.27;ReadPosRankSum=0.159;SOR=0.606	GT:AD:DP:GQ:PL	0/1:93,77:170:99:1722,0,2406	6	6	9	0
chr21	29066908	29066908	A	G	exonic	CCT8	.	nonsynonymous SNV	CCT8:NM_001282909:exon4:c.T326C:p.L109P	.	.	435	1085	2	0	0	2	0.00092081	.	.	2756145	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0	D	1.0	D	0.997	D	0.000	D	1.000	D	4.02	H	-1.75	D	0.925	D	0.823	D	0.992	4.223	21.9	5.73	2.302	8.846	16.320	0.957	0.195042132786	.	0.000199681	3.316e-05	0	0	0	0	0	0.0011	0.0002	3.23e-05	5	154602	rs575611934	2.544e-05	2.599e-05	2.459e-05	2.629e-05	0.0010	1.877e-05	1.639e-05	0.0005	0.0003	0	0	0	0	0	0.0010	1.445e-05	1.665e-05	0.0002	3.938e-05	3.936e-05	6.422e-05	1.342e-05	0.0002	1.714e-05	1.128e-05	2.846e-05	1.858e-05	0	0	0	0	0	0	0	7.349e-05	0	0.0002	0.0	0.91255	D	0.001	0.83351	D	0.999	0.77913	D	0.979	0.74454	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.775	0.95212	H	-1.75	0.83495	D	-6.17	0.90254	D	0.888	0.88687	0.925	0.96036	D	0.823	0.94051	D	10	0.9205173	0.91407	D	0.195042	0.86398	D	0.957	0.99284	0.825	0.93657	0.955997074612	0.95552	0.9620870889583764	0.96194	0.88437448057	0.69906	0.723351120949	0.70535	T	0.861404	0.96928	D	0.280035	0.81319	D	0.428903	0.93018	D	0.991671442985535	0.82002	D	0.934906	0.75551	D	0.98680115	0.99582	0.9770711	0.99733	0.98680115	0.99582	0.9770711	0.99734	-11.627	0.88650	D	.	.	0.894	0.85503	P	.;.;.	.;.;.	5.300777	0.88993	29.8	0.99901977727768221	0.97350	0.99345	0.94800	D	AEFDGBI	0.964303	0.98641	D	1.04862998364195	0.97058	15.526	0.965799690921447	0.97848	16.88863	0.999999999999958	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.73	5.73	0.89730	8.832000	0.91692	9.281000	0.79714	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	1.0:0.0:0.0:0.0	16.320	0.82777	971	0.05719	.;.;.	.	.	.	.	.	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	2058.98	33	chr21	29066908	.	A	G	2058.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.078e+00;DP=905;ExcessHet=0.0000;FS=4.996;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.30;ReadPosRankSum=1.74;SOR=0.976	GT:AD:DP:GQ:PL	0/1:71,73:144:99:2073,0,1983	20	0	1	0
chr21	30371744	30371744	C	A	exonic	KRTAP13-2	.	nonsynonymous SNV	KRTAP13-2:NM_181621:exon1:c.G470T:p.C157F,	.	.	432	1088	2	0	0	2	0.000918274	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.41	T	0.008	B	0.01	B	0.580	N	1.000	N	0.495	N	4.13	T	-0.905	T	0.006	T	0.231	-1.205	0.070	-0.986	-0.305	-0.467	8.354	0.051	0.00256061060868	0.0018	0.000998403	0.0014	9.61e-05	0.0006	0	0.0005	0.0021	0.0011	0.0010	0.0013842	214	154602	rs150635388	0.0022	0.0022	0.0022	0.0022	0.0027	0.0022	0.0021	0.0026	0.0025	0.0002	0.0006	0.0003	0	0.0007	0.0005	0.0027	0.0024	0.0008	0.0014	0.0014	0.0013	0.0015	0.0023	0.0013	0.0012	0.0020	0.0019	0.0004	0.0022	0.0020	0.0003	0	0.0007	0	0.0023	0.0014	0.0006	1.0	0.00964	T	0.434	0.13557	T	0.008	0.14655	B	0.01	0.14941	B	0.580344	0.11149	N	0.755961	1	0.08975	N	0.345	0.11182	N	4.13	0.02865	T	-2.11	0.48020	N	0.22	0.24634	-0.9049	0.47458	T	0.006	0.02055	T	10	0.005710602	0.00127	T	0.002561	0.05150	T	0.051	0.14325	.	.	0.107399877778	0.10242	0.02533596297662893	0.02484	0.0513960998013	0.05660	0.304811447859	0.11122	T	0.008164	0.07514	T	-0.620363	0.00109	T	-0.666935	0.07806	T	0.00351370921589294	0.00037	T	0.122788	0.00953	T	0.15743911	0.35475	0.14609389	0.34625	0.15743911	0.35475	0.14609389	0.34624	-4.795	0.34533	T	.	.	0.100	0.17103	B	.	.	0.570958	0.09394	6.175	0.77439588165792017	0.11877	0.02481	0.06951	N	AEFGI	0.056227	0.10378	N	-0.949916595690883	0.09695	0.4599376	-0.92566730726182	0.11489	0.5856085	5.57073465863564E-5	0.04171	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.02	-0.986	0.09728	-0.665000	0.05386	-5.157000	0.01826	0.530000	0.24713	0.033000	0.20612	0.000000	0.08366	0.956000	0.50813	0.4947:0.4264:0.0:0.0789	8.354	0.31482	213	0.91726	.	.	.	.	.	.	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	2656.98	33	chr21	30371744	.	C	A	2656.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.365e+00;DP=887;ExcessHet=0.0000;FS=1.129;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.42;ReadPosRankSum=0.056;SOR=0.604	GT:AD:DP:GQ:PL	0/1:98,100:198:99:2671,0,2848	20	0	1	0
chr21	31223513	31223513	C	A	exonic	TIAM1	.	nonsynonymous SNV	TIAM1:NM_001353686:exon8:c.G1888T:p.G630C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.992	D	0.000	D	1.000	D	1.955	M	0.66	T	-0.376	T	0.325	T	0.964	4.947	28.7	4.67	2.578	7.551	18.125	0.437	0.0253802739248	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.001	0.83351	D	1.0	0.90584	D	0.98	0.74843	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.085	0.57729	M	0.51	0.55439	T	-5.75	0.87760	D	0.914	0.91621	-0.3762	0.72770	T	0.325	0.69333	T	10	0.82121944	0.81325	D	0.02538	0.48351	D	0.437	0.74164	0.341	0.33302	0.801641769357	0.79978	0.7844091673996759	0.78391	1.61337076957	0.88950	0.887850522995	0.94990	D	0.543501	0.84412	D	0.299314	0.82914	D	0.192167	0.82693	D	0.99884295463562	0.95344	D	0.937806	0.92553	D	0.8691583	0.88795	0.7128024	0.83054	0.8691583	0.88796	0.7128024	0.83055	-11.372	0.81658	D	.	.	0.916	0.83892	P	.;.	.;.	4.725747	0.76062	26.4	0.99798450368407454	0.88372	0.98407	0.82460	D	AEFBI	0.912796	0.87391	D	0.779429624493172	0.84802	8.390963	0.745219580745825	0.85801	8.689827	0.999999998756693	0.74766	0.562547	0.31514	0	0.588066	0.40923	0	0.608884	0.39905	0	0.564101	0.26826	0	.	.	4.67	4.67	0.58089	7.847000	0.85186	7.681000	0.65292	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:1.0:0.0:0.0	18.125	0.89512	859	0.33891	.;.	.	.	.	.	.	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	1224.98	34	chr21	31223513	.	C	A	1224.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.287e+00;DP=814;ExcessHet=0.0000;FS=5.263;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.17;ReadPosRankSum=-2.486e+00;SOR=0.343	GT:AD:DP:GQ:PL	0/1:42,51:93:99:1239,0,1066	20	0	1	0
chr21	32686996	32686996	C	T	exonic	SYNJ1	.	nonsynonymous SNV	SYNJ1:NM_001160302:exon8:c.G930A:p.M310I	Epileptic encephalopathy, early infantile, 53;Parkinson disease 20, early-onset, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	573756	Early-onset_Parkinson_disease_20|Developmental_and_epileptic_encephalopathy,_53	MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530,Orphanet:391411|MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.19	T	0.921	P	0.497	P	0.000	D	1.000	D	0.485	N	0.45	T	-0.961	T	0.139	T	0.865	4.052	20.8	5.85	2.775	7.669	20.17	0.266	0.0529689880911	.	.	0.0003	9.701e-05	0	0	0	1.506e-05	0	0.0018	0.0002005	31	154602	rs749045961	9.454e-05	0.0001	4.988e-05	0.0001	0.0016	8.12e-05	7.642e-05	0.0014	0.0013	3.418e-05	0	0	2.801e-05	0	0	3.691e-06	6.921e-05	0.0016	6.574e-05	6.567e-05	3.855e-05	9.423e-05	0.0017	3.518e-05	2.617e-05	0.0008	0.0006	4.828e-05	0	0	0	0	0	0	0	0	0.0017	0.122	0.34095	T	0.348	0.22016	T	0.921	0.51088	P	0.497	0.47562	P	0.000000	0.84330	D	0.068196	1	0.81001	D	0.35	0.11930	N	0.45	0.56446	T	-1.6	0.38540	N	0.779	0.77601	-0.9612	0.38955	T	0.139	0.45659	T	10	0.057552338	0.06629	T	0.052969	0.65281	D	0.266	0.57999	0.519	0.62066	0.52628473709	0.52276	0.46136452278008655	0.46054	1.4171152166	0.85547	0.758360266685	0.75685	T	0.266045	0.65510	T	-0.0941069	0.37397	T	0.0788154	0.75497	D	0.128693958698357	0.15260	T	0.967203	0.93912	D	.	.	.	.	.	.	.	.	-6.611	0.51138	T	.	.	0.888	0.86079	P	.;.;.;.;.;.	.;.;.;.;.;.	3.991614	0.58755	24.0	0.99528717260339195	0.69715	0.98398	0.82369	D	AEFBI	0.883558	0.81256	D	0.179163743917951	0.50199	3.212254	0.372260470570967	0.59858	4.167573	0.999999999999753	0.74766	0.651	0.46895	0	0.601575	0.49859	0	0.573888	0.23631	0	0.683762	0.67416	0	.	.	5.85	5.85	0.93663	7.572000	0.81736	7.659000	0.64126	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.0:1.0:0.0:0.0	20.17	0.98157	921	0.19240	.;SAC domain|SAC domain;SAC domain|SAC domain;SAC domain|SAC domain;SAC domain|SAC domain;SAC domain|SAC 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	368.98	33	chr21	32686996	.	C	T	368.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.399e+00;DP=751;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=5.86;ReadPosRankSum=-2.050e-01;SOR=0.652	GT:AD:DP:GQ:PL	0/1:45,18:63:99:383,0,1293	20	0	1	0
chr21	41443804	41443804	G	A	exonic	MX1	.	nonsynonymous SNV	MX1:NM_001282920:exon7:c.G946A:p.G316R	.	.	420	1100	2	0	0	2	0.000908265	.	.	728917	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.05	D	0.878	P	0.739	P	0.005	N	1.000	D	2.425	M	-0.62	T	-0.520	T	0.196	T	0.192	1.091	9.453	2.02	0.716	1.708	8.897	0.362	.	0.0096	0.00778754	0.0028	0.0281	0.0012	0	0	0.0004	0.0022	0.0004	0.0026455	409	154602	rs62623435	0.0010	0.0010	0.0010	0.0009	0.0268	0.0009	0.0009	0.0253	0.0248	0.0268	0.0018	0.0067	0	0	0.0024	5.036e-05	0.0020	0.0007	0.0080	0.0080	0.0082	0.0077	0.0265	0.0076	0.0074	0.0252	0.0247	0.0265	0	0.0041	0.0081	0	0	0	8.819e-05	0.0066	0	0.045	0.40832	D	0.195	0.38160	T	0.878	0.48285	P	0.739	0.55653	P	0.005257	0.32962	N	0.351646	0.998814	0.49283	D	2.375	0.68372	M	-0.62	0.71895	T	-6.05	0.90178	D	0.337	0.42443	-0.5198	0.67921	T	0.196	0.54999	T	10	0.008124739	0.00184	T	.	.	.	0.362	0.68230	0.645	0.78224	0.839133742791	0.83759	0.4643552471896555	0.46354	0.196392658314	0.21999	0.34796243906	0.17621	T	0.591578	0.86778	D	-0.413355	0.01889	T	-0.345583	0.39710	T	0.0653726273210793	0.07986	T	0.874613	0.69775	D	0.6297714	0.74286	0.41107038	0.65349	0.6297714	0.74287	0.41107038	0.65349	-7.342	0.63605	T	.	.	0.126	0.44345	B	.;.;.;.;.	.;.;.;.;.	3.118664	0.42097	21.5	0.958515736711685	0.27995	0.68058	0.33660	D	AEFBHCI	0.140743	0.26273	N	-0.0733883884235189	0.38563	2.260479	-0.209836663584815	0.31182	1.762305	0.999502937580059	0.40062	0.67177	0.52595	0	0.702456	0.74545	0	0.658983	0.55881	0	0.668105	0.65232	0	.	.	4.8	2.02	0.25641	1.483000	0.35105	2.391000	0.32540	0.614000	0.49286	0.623000	0.27939	0.995000	0.32472	0.476000	0.28476	0.2548:0.0:0.7452:0.0	8.897	0.34631	911	0.21964	Dynamin central domain|Dynamin-type guanine nucleotide-binding (G) domain|Dynamin, GTPase domain;Dynamin central domain|Dynamin-type guanine nucleotide-binding (G) domain|Dynamin, GTPase domain;Dynamin central domain|Dynamin-type guanine nucleotide-binding (G) domain|Dynamin, GTPase domain;Dynamin central domain|Dynamin-type guanine nucleotide-binding (G) domain|Dynamin, GTPase 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	720.98	36	chr21	41443804	.	G	A	720.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.780e-01;DP=755;ExcessHet=0.0000;FS=3.368;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.09;ReadPosRankSum=0.585;SOR=0.494	GT:AD:DP:GQ:PL	0/1:34,31:65:99:735,0,875	20	0	1	0
chr21	42102240	42102240	G	T	exonic	UMODL1	.	nonsynonymous SNV	UMODL1:NM_001004416:exon8:c.G1261T:p.V421L	.	.	.	.	.	.	.	.	.	.	.	2261333	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.09	T	0.001	B	0.006	B	0.060	N	1.000	N	0.69	N	1.19	T	-1.016	T	0.063	T	0.115	-0.727	0.887	-3.06	-1.285	-0.383	7.793	0.022	0.00364675092916	.	.	.	.	.	.	.	.	.	.	.	.	.	rs917651809	2.737e-06	4.104e-06	2.723e-06	2.751e-06	5.975e-05	6.4e-07	4.3e-07	9.9e-06	3.7e-06	5.975e-05	0	0	0	0	0	8.995e-07	1.657e-05	0	6.565e-06	6.562e-06	0	1.343e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.287	0.15770	T	0.204	0.29442	T	0.001	0.07471	B	0.006	0.12133	B	0.060426	0.02133	N	2.386980	1	0.08975	N	1.61	0.41143	L	1.19	0.37578	T	-0.48	0.15986	N	0.093	0.07262	-1.0157	0.25110	T	0.063	0.26172	T	10	0.05339408	0.05524	T	0.003647	0.08402	T	0.022	0.04323	0.521	0.62368	0.192905019026	0.18896	0.22617906426536916	0.22532	0.103051432404	0.11657	0.25089135766	0.03863	T	0.00303	0.02432	T	-0.278708	0.10805	T	-0.638121	0.09807	T	0.52947598695755	0.33715	D	0.310069	0.06017	T	0.040540587	0.05807	0.050176337	0.07822	0.040540587	0.05807	0.050176337	0.07821	-1.832	0.02606	T	.	.	0.113	0.38693	B	.;.;.;.	.;.;.;.	0.073919	0.04817	1.421	0.55246635687768775	0.05303	0.02418	0.06834	N	ALL	0.082240	0.16650	N	-1.63561135281107	0.01097	0.04762187	-1.69935851113038	0.01140	0.05127315	0.999999068943594	0.74766	0.446893	0.09132	0	0.607795	0.50457	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	3.99	-3.06	0.05053	-0.248000	0.08872	-0.023000	0.12899	-1.487000	0.01050	0.003000	0.16062	0.000000	0.08366	0.009000	0.08673	0.4043:0.1218:0.4739:0.0	7.793	0.28295	981	0.03995	.;.;.;SEA domain|SEA 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	1155.98	41	chr21	42102240	.	G	T	1155.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.00;DP=862;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.27;ReadPosRankSum=0.609;SOR=0.618	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:32,49:81:99:0|1:42102239_T_C:1170,0,689:42102239	20	0	1	0
chr21	42111182	42111182	A	G	exonic	UMODL1	.	nonsynonymous SNV	UMODL1:NM_001199527:exon11:c.A1744G:p.S582G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.18	T	0.673	P	0.071	B	.	.	0.999	N	.	.	-0.69	T	-0.976	T	0.172	T	0.077	0.260	5.407	0.72	0.035	0.013	5.254	0.081	0.00501232265985	.	.	.	.	.	.	.	.	.	.	.	.	.	rs985850136	9.219e-06	9.594e-06	7.019e-06	1.147e-05	0.0003	5.14e-06	3.96e-06	0.0001	0.0001	0.0003	0	0	0	0	0	9.208e-07	3.427e-05	1.241e-05	6.588e-05	6.577e-05	3.867e-05	9.431e-05	0.0002	3.525e-05	2.622e-05	0.0001	9.96e-05	0.0002	0	0	0	0	0	0	0	0	0	0.015	0.53172	D	0.056	0.53072	T	0.673	0.41222	P	0.071	0.27960	B	.	.	.	.	1	0.21260	N	.	.	.	-0.79	0.73739	T	-0.25	0.11008	N	0.072	0.09207	-0.9761	0.35882	T	0.172	0.51357	T	8	0.051354915	0.05003	T	0.005012	0.12660	T	0.081	0.23632	0.14	0.04369	0.0884992946249	0.08302	0.10184488345339426	0.10115	0.182222055914	0.20484	0.233200922608	0.02213	T	.	.	.	-0.425901	0.01570	T	-0.527588	0.19528	T	0.0302532825687651	0.02029	T	0.487551	0.14930	T	.	.	.	.	.	.	.	.	-6.953	0.53690	T	.	.	0.119	0.24294	B	.;.	.;.	0.439859	0.08101	4.828	0.62526727179624053	0.06985	0.02162	0.06348	N	AEFDBCI	0.045583	0.07471	N	-1.02275770322888	0.08133	0.3802734	-1.19245112652791	0.06035	0.2893034	0.99991600351229	0.45857	0.497415	0.19182	0	0.59043	0.45803	0	0.578056	0.29568	0	0.542086	0.14980	0	.	.	2.03	0.72	0.17368	-0.011000	0.12659	0.389000	0.17868	0.668000	0.69082	0.000000	0.06391	0.012000	0.20211	0.009000	0.08673	0.7428:0.0:0.0:0.2572	5.254	0.14855	981	0.03995	.;.	.	.	.	.	.	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	708.98	59	chr21	42111182	.	A	G	708.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.082e+00;DP=1117;ExcessHet=0.0000;FS=1.073;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.63;ReadPosRankSum=0.834;SOR=0.527	GT:AD:DP:GQ:PL	0/1:25,27:52:99:723,0,762	20	0	1	0
chr21	44288401	44288401	G	A	exonic	AIRE	.	nonsynonymous SNV	AIRE:NM_000383:exon5:c.G595A:p.V199I,	Autoimmune polyendocrinopathy syndrome , type I, with or without reversible metaphyseal dysplasia, Autosomal recessive, Autosomal dominant	YES	.	.	.	.	.	.	.	.	.	133783	not_specified|Polyglandular_autoimmune_syndrome,_type_1|not_provided	MedGen:CN169374|MONDO:MONDO:0009411,MedGen:C0085859,OMIM:240300,Orphanet:3453|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.19	T	0.999	D	0.995	D	0.044	N	0.999	N	1.7	L	0.03	T	-0.885	T	0.211	T	0.072	2.150	13.15	0.359	0.291	0.549	3.330	0.084	.	0.0032	0.00399361	0.0012	0.0097	0.0021	0.0015	0	0.0002	0.0011	0	0.0011966	185	154602	rs74162061	0.0006	0.0006	0.0007	0.0006	0.0121	0.0006	0.0006	0.0111	0.0107	0.0121	0.0023	0	0.0007	0	0.0016	0.0002	0.0017	9.275e-05	0.0038	0.0038	0.0038	0.0038	0.0119	0.0035	0.0034	0.0110	0.0107	0.0119	0	0.0033	0	0.0008	0	0.0204	0.0002	0.0019	0.0004	0.083	0.33091	T	0.046	0.49120	D	0.999	0.77913	D	0.995	0.83170	D	0.044268	0.23655	N	0.203061	0.999997	0.08975	N	1.95	0.52479	M	0.03	0.62183	T	-0.25	0.11008	N	0.097	0.07811	-0.8854	0.49324	T	0.211	0.57081	T	10	0.008170009	0.00185	T	.	.	.	0.084	0.24469	.	.	0.500613528874	0.49698	0.09178501883863743	0.09111	0.163838910764	0.18484	0.456157565117	0.32785	T	0.246735	0.61625	T	-0.550025	0.00292	T	-0.552462	0.17091	T	0.00758200874009789	0.00088	T	0.625537	0.24174	T	0.060863804	0.12538	0.06903008	0.14491	0.060863804	0.12538	0.06903008	0.14491	-6.158	0.47582	T	0.1180283645890475	0.10847	0.075	0.05491	B	.	.	1.449698	0.18706	13.88	0.99664210724125457	0.78138	0.05199	0.11023	N	AEFDBI	0.073111	0.14614	N	-0.329207714825212	0.28043	1.543549	-0.572147104431313	0.20220	1.088423	0.987343792298573	0.31243	0.580535	0.33130	0	0.547309	0.14657	0	0.576033	0.28219	0	0.613276	0.41899	0	.	.	3.61	0.359	0.15324	0.111000	0.15292	-0.159000	0.11341	0.595000	0.32841	0.000000	0.06391	0.000000	0.08366	0.022000	0.11911	0.2627:0.2215:0.5158:0.0	3.330	0.06666	929	0.16858	SAND domain|SAND 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	1675.98	37	chr21	44288401	.	G	A	1675.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.766;DP=959;ExcessHet=0.0000;FS=2.096;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.72;ReadPosRankSum=0.830;SOR=0.523	GT:AD:DP:GQ:PL	0/1:73,70:143:99:1690,0,1736	20	0	1	0
chr21	44291142	44291142	C	G	exonic	AIRE	.	nonsynonymous SNV	AIRE:NM_000383:exon8:c.C927G:p.I309M,	Autoimmune polyendocrinopathy syndrome , type I, with or without reversible metaphyseal dysplasia, Autosomal recessive, Autosomal dominant	.	0	1520	2	0	0	2	0.000657462	.	.	958977	Polyglandular_autoimmune_syndrome,_type_1|not_provided	MONDO:MONDO:0009411,MedGen:C0085859,OMIM:240300,Orphanet:3453|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.01	D	0.996	D	0.955	D	0.009	N	1.000	D	1.695	L	-2.21	D	0.472	D	0.696	D	0.675	3.458	17.71	3.86	1.878	0.910	11.703	0.734	0.051600594119	.	.	0.0001	0	0	0	0	0.0001	0	0.0004	9.06e-05	14	154602	rs74162062	0.0001	0.0001	0.0001	0.0001	0.0003	9.349e-05	8.831e-05	0.0002	0.0001	5.975e-05	0	0	0	0	0.0002	0.0001	9.94e-05	0.0003	0.0001	0.0001	0.0001	6.716e-05	0.0002	6.509e-05	5.321e-05	0.0001	7.899e-05	2.407e-05	0	6.534e-05	0	0	0	0	0.0002	0.0005	0.0002	0.003	0.68238	D	0.005	0.72224	D	0.968	0.56581	D	0.726	0.55126	P	0.009445	0.30355	N	0.149595	0.999666	0.48141	D	1.555	0.39373	L	-2.21	0.86963	D	-2.09	0.47683	N	0.653	0.66358	0.472	0.90148	D	0.696	0.89521	D	10	0.6621865	0.70218	D	0.051601	0.64730	D	0.734	0.90721	.	.	0.935899856031	0.93523	0.6584371286038074	0.65780	0.527928288861	0.50385	0.696090936661	0.66580	T	0.49769	0.81945	T	-0.0635664	0.42348	T	-0.0245376	0.68730	D	0.378336071968079	0.28119	T	0.939106	0.77081	D	0.82902205	0.85834	0.672839	0.80798	0.82902205	0.85836	0.672839	0.80799	-10.954	0.79405	D	0.6659994009639238	0.74024	0.596	0.68731	P	.	.	3.948354	0.57820	23.9	0.99488915186248639	0.67347	0.83499	0.42612	D	AEFDBI	0.358850	0.44938	N	0.378446090113252	0.60256	4.212547	0.3332935450562	0.57506	3.916637	0.999994053241565	0.74766	0.580535	0.33130	0	0.578056	0.33634	0	0.576033	0.28219	0	0.562822	0.20929	0	.	.	3.86	3.86	0.43689	0.478000	0.21922	1.637000	0.27771	0.599000	0.40250	0.997000	0.40164	1.000000	0.68203	0.996000	0.76049	0.0:1.0:0.0:0.0	11.703	0.50845	929	0.16858	Zinc finger, PHD-finger|Zinc finger, PHD-type, conserved site|Zinc finger, PHD-finger|Zinc finger, PHD-type	.	.	.	.	.	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	3278.11	40	chr21	44291142	.	C	G	3278.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-1.320e-01;DP=915;ExcessHet=0.1072;FS=2.800;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=12.86;ReadPosRankSum=0.807;SOR=0.526	GT:AD:DP:GQ:PL	0/1:52,60:112:99:1541,0,1343	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|1:0,105,0:105:99:1|1:44558616_T_G:4607,316,0,4607,316,4607:44558616	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|1:0,105,0:105:99:1|1:44558616_T_G:4623,316,0,4623,316,4623:44558616	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	0/1:144,17,0:161:80:80,0,3979,556,4321,5742	13	0	7	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	0/2:165,0,146:311:99:5581,6077,12815,0,6738,6293	3	1	0	1
chr21	46137321	46137321	G	A	exonic	FTCD	.	nonsynonymous SNV	FTCD:NM_001320412:exon13:c.C1457T:p.A486V	Glutamate formiminotransferase deficiency, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.12	T	0.995	D	0.82	P	0.001	U	1.000	D	2.34	M	0.96	T	-0.440	T	0.331	T	0.674	3.771	19.15	4.12	1.842	5.784	10.616	0.232	0.0113151674455	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1010026593	6.844e-07	6.84e-07	0	1.376e-06	1.159e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.159e-05	6.567e-06	6.562e-06	0	1.343e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.106	0.29688	T	0.261	0.25438	T	0.995	0.67487	D	0.82	0.59072	P	0.000603	0.42945	U	0.192246	0.999738	0.81001	D	2.565	0.75005	M	0.96	0.42888	T	-2.26	0.50502	N	0.562	0.58629	-0.4399	0.70734	T	0.331	0.69902	T	10	0.5244248	0.62827	D	0.011315	0.28804	T	0.232	0.53354	0.668	0.80602	0.665704048042	0.66288	0.4364620719683625	0.43563	0.0842887182597	0.09520	0.639765501022	0.58531	T	0.149324	0.48828	T	0.0446729	0.57653	T	-0.173607	0.57112	T	0.961470603942871	0.66092	D	0.962704	0.89229	D	0.111969545	0.26455	0.14893028	0.35185	0.111969545	0.26455	0.14893028	0.35184	-6.356	0.49165	T	0.24608603980500435	0.33329	0.155	0.41693	B	.;.;.	.;.;.	4.677140	0.74812	26.2	0.99873127811283724	0.95076	0.88932	0.49105	D	AEFDBCI	0.875359	0.79873	D	0.308185896156299	0.56568	3.821675	0.310824156938512	0.56174	3.780489	0.999999992069683	0.74766	0.695654	0.57023	0	0.588066	0.40923	0	0.723109	0.80598	0	0.586402	0.36253	0	.	.	4.12	4.12	0.47504	7.538000	0.80960	11.026000	0.85008	0.671000	0.69459	1.000000	0.71638	1.000000	0.68203	0.596000	0.31288	0.1054:0.0:0.8946:0.0	10.616	0.44640	982	0.03397	Cyclodeaminase/cyclohydrolase;.;Cyclodeaminase/cyclohydrolase	.	.	.	.	.	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	2102.98	40	chr21	46137321	.	G	A	2102.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.117e+00;DP=949;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.21;ReadPosRankSum=-1.568e+00;SOR=0.672	GT:AD:DP:GQ:PL	0/1:64,84:148:99:2117,0,1637	20	0	1	0
chr21	46151969	46151969	C	T	exonic	FTCD	.	nonsynonymous SNV	FTCD:NM_001320412:exon4:c.G379A:p.G127S	Glutamate formiminotransferase deficiency, Autosomal recessive	YES	2	1518	2	0	0	2	0.000658328	.	.	963932	Inborn_genetic_diseases|Glutamate_formiminotransferase_deficiency|Intellectual_disability	MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0009240,MedGen:C0268609,OMIM:229100,Orphanet:51208|Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.41	T	1.0	D	0.98	D	0.000	D	1.000	D	2.845	M	-1.23	T	0.229	D	0.633	D	0.713	2.627	14.74	3.65	1.963	7.042	16.238	0.479	0.262951970722	.	.	0	0	0	0	0	0	0	0	2.59e-05	4	154602	rs766010122	5.233e-05	5.404e-05	5.736e-05	4.719e-05	0.0002	4.264e-05	3.905e-05	8.658e-05	6.115e-05	9.276e-05	0.0002	0	0	0	0	5.146e-05	0.0001	2.479e-05	6.569e-05	6.566e-05	3.854e-05	9.412e-05	0.0001	3.516e-05	2.616e-05	3.248e-05	1.914e-05	9.647e-05	0	0.0001	0	0	0	0	5.88e-05	0	0	0.454	0.37326	T	0.494	0.11656	T	1.0	0.90584	D	0.98	0.74843	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.08	0.87267	M	-1.23	0.78860	T	-2.39	0.52612	N	0.774	0.77132	0.229	0.86393	D	0.633	0.87139	D	10	0.84070504	0.83227	D	0.262952	0.89581	D	0.479	0.77012	.	.	0.905458025523	0.90451	0.8681134533835198	0.86776	0.335013396911	0.35513	0.691559791565	0.65930	T	0.583154	0.86381	D	-0.0137613	0.49737	T	0.0346051	0.72576	D	0.690987765789032	0.40293	D	0.935706	0.86259	D	0.45323342	0.64246	0.34753028	0.60406	0.45323342	0.64247	0.34753028	0.60405	-11.669	0.83883	D	0.4954739160070249	0.57159	0.215	0.48029	B	.;.;.;.	.;.;.;.	4.173216	0.62768	24.5	0.98980820189958696	0.49740	0.97601	0.75824	D	AEFDBCI	0.965860	0.98822	D	0.346859366830971	0.58573	4.03044	0.154544402615177	0.47382	2.969377	0.999999999999976	0.74766	0.646311	0.45356	0	0.547309	0.14657	0	0.645312	0.48771	0	0.613276	0.41899	0	.	.	3.65	3.65	0.40985	5.532000	0.66867	5.683000	0.49304	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.010000	0.09038	0.0:1.0:0.0:0.0	16.238	0.82216	982	0.03397	Formiminotransferase, N-terminal subdomain|Formiminotransferase, N-terminal subdomain|Formiminotransferase catalytic domain;.;Formiminotransferase, N-terminal subdomain|Formiminotransferase, N-terminal subdomain|Formiminotransferase catalytic domain;Formiminotransferase, N-terminal subdomain|Formiminotransferase, N-terminal subdomain|Formiminotransferase catalytic 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	1170.98	33	chr21	46151969	.	C	T	1170.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.32;DP=828;ExcessHet=0.0000;FS=1.764;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.78;ReadPosRankSum=-1.127e+00;SOR=0.750	GT:AD:DP:GQ:PL	0/1:40,45:85:99:1185,0,924	20	0	1	0
chr22	17689010	17689010	G	A	exonic	BCL2L13	.	nonsynonymous SNV	BCL2L13:NM_001270726:exon3:c.G326A:p.R109H	.	.	424	1075	22	1	0	24	0.0110396	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.53	T	0.998	D	0.78	P	0.045	N	1.000	D	0.345	N	3.56	T	-0.793	T	0.011	T	0.223	3.669	18.65	4.57	1.352	3.917	9.374	0.059	.	0.0058	0.00638978	0.0085	0.0012	0.0089	0.0001	0.0156	0.0104	0.0088	0.0065	0.00804	1243	154602	rs61741787	0.0088	0.0088	0.0089	0.0087	0.0260	0.0087	0.0086	0.0226	0.0213	0.0019	0.0099	0.0088	5.039e-05	0.0162	0.0260	0.0089	0.0105	0.0069	0.0072	0.0072	0.0068	0.0076	0.0109	0.0068	0.0067	0.0095	0.0090	0.0016	0	0.0109	0.0084	0.0004	0.0195	0.0306	0.0084	0.0076	0.0064	0.135	0.27663	T	0.144	0.33442	T	0.945	0.73220	P	0.481	0.57283	P	0.045303	0.23550	N	0.491473	1	0.81001	D	1.79	0.46772	L	3.56	0.04696	T	-0.96	0.46673	N	0.417	0.47022	-0.7933	0.55537	T	0.011	0.03949	T	10	0.008024782	0.00182	T	.	.	.	0.059	0.16972	.	.	0.241664281697	0.23763	0.24012876412980433	0.23926	0.151046914989	0.17050	0.245401352644	0.03299	T	0.016618	0.27242	T	-0.51851	0.00449	T	-0.510046	0.21310	T	0.0205169027326303	0.00751	T	0.915608	0.72990	D	0.04604829	0.07641	0.029454181	0.01286	0.04604829	0.07640	0.029454181	0.01286	-3.107	0.11586	T	.	.	0.184	0.39815	B	.;.;.;.;.;.	.;.;.;.;.;.	2.806007	0.36928	20.4	0.99895227752262639	0.96819	0.94183	0.60365	D	AEFBI	0.638655	0.61700	D	0.168550375348562	0.49691	3.166844	0.254502007397856	0.52906	3.462375	0.999858228876689	0.44174	0.732398	0.92422	0	0.724815	0.89359	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	5.58	4.57	0.55860	4.727000	0.61687	4.276000	0.42864	0.671000	0.69459	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0721:0.0:0.7848:0.143	9.374	0.37433	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	0.04762	1486.11	35	chr22	17689010	.	G	A	1486.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.699;DP=804;ExcessHet=0.1072;FS=3.136;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=10.77;ReadPosRankSum=0.749;SOR=0.441	GT:AD:DP:GQ:PL	0/1:43,34:77:99:781,0,975	19	0	2	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	1/1:0,127:127:99:.:.:3816,381,0	3	11	7	0
chr22	19779372	19779372	G	A	exonic	TBX1	.	nonsynonymous SNV	TBX1:NM_080646:exon9:c.G1162A:p.V388M,	Conotruncal anomaly face syndrome;DiGeorge syndrome, Autosomal dominant;Tetralogy of Fallot, Autosomal dominant;Velocardiofacial syndrome, Autosomal dominant	.	0	1517	5	0	0	5	0.00164528	.	.	1287528	not_provided|TBX1-related_disorder|Cardiovascular_phenotype	MedGen:C3661900|.|MedGen:CN230736	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.17	T	0.524	P	0.175	B	.	.	1.000	N	0.55	N	-2.25	D	-0.697	T	0.345	T	0.103	0.988	9.035	-0.175	0.021	-0.020	2.529	0.119	0.00854705957742	7.7e-05	.	0.0001	0	0	0	0	0.0002	0.0011	0.0002	0.0001164	18	154602	rs375380772	0.0001	0.0001	0.0001	0.0001	0.0023	0.0001	0.0001	0.0013	0.0011	0	0.0004	0	0	0	0.0023	0.0001	0.0002	0.0002	0.0001	0.0002	6.422e-05	0.0002	0.0006	9.735e-05	8.25e-05	0.0003	0.0002	2.405e-05	0	0.0006	0	0	0	0.0034	0.0001	0.0009	0	0.012	0.54683	D	0.033	0.53072	D	0.524	0.37583	P	0.175	0.35598	B	.	.	.	.	1	0.08975	N	0.55	0.14455	N	-2.25	0.87272	D	0.1	0.05810	N	0.095	0.07535	-0.6974	0.60563	T	0.345	0.70988	T	9	0.05808103	0.06773	T	0.008547	0.22606	T	0.119	0.33137	.	.	0.356792473465	0.35289	.	.	.	.	.	.	.	0.151191	0.49102	T	-0.334286	0.05793	T	-0.420396	0.31031	T	0.0231154428818516	0.01037	T	0.508249	0.16142	T	0.038360257	0.05096	0.053167343	0.08904	0.038360257	0.05095	0.053167343	0.08904	-4.833	0.34973	T	.	.	0.234	0.46745	B	.	.	0.644814	0.10131	6.877	0.92250429460098726	0.21629	0.01071	0.03965	N	AEFBI	0.027994	0.02386	N	-1.03730363734572	0.07839	0.3655262	-1.1740089431019	0.06347	0.3052239	0.989351346656891	0.31799	0.497415	0.19182	0	0.547309	0.14657	0	0.59043	0.30614	0	0.530356	0.10902	0	.	.	2.06	-0.175	0.12662	0.327000	0.19408	-1.462000	0.05385	-0.132000	0.13132	0.002000	0.15269	0.000000	0.08366	0.002000	0.04165	0.1754:0.0:0.5363:0.2884	2.529	0.04413	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	0.02381	1888.98	37	chr22	19779372	.	G	A	1888.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.110e-01;DP=865;ExcessHet=0.0000;FS=3.554;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=20.10;ReadPosRankSum=0.827;SOR=0.386	GT:AD:DP:GQ:PL	0/1:27,67:94:99:1903,0,621	20	0	1	0
chr22	20779794	20779794	C	A	exonic	SERPIND1	.	nonsynonymous SNV	SERPIND1:NM_000185:exon2:c.C482A:p.A161E,	Thrombophilia due to heparin cofactor II deficiency, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.000	D	1.000	D	3.835	H	-2.32	D	0.972	D	0.870	D	0.958	5.267	33	5.59	2.639	6.059	19.584	0.895	0.233398830457	.	.	.	.	.	.	.	.	.	.	6.5e-06	1	154602	rs930125664	2.052e-05	2.052e-05	2.042e-05	2.063e-05	0.0002	1.456e-05	1.264e-05	1.46e-05	1.227e-05	0	2.236e-05	0	0	0	0.0002	2.158e-05	6.623e-05	0	2.627e-05	2.625e-05	2.569e-05	2.686e-05	6.536e-05	8.14e-06	5.14e-06	4.88e-06	1.83e-06	0	0	6.536e-05	0	0	0	0	2.94e-05	0.0005	0	0.001	0.78490	D	0.004	0.74150	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	4.12	0.97420	H	-2.32	0.87830	D	-4.56	0.78636	D	0.905	0.90932	0.972	0.96730	D	0.870	0.95691	D	10	0.9829266	0.98400	D	0.233399	0.88364	D	0.895	0.97022	0.864	0.95995	0.957657325071	0.95721	0.9460002484845459	0.94582	0.621991151545	0.56487	0.558668851852	0.47080	T	0.865616	0.97054	D	0.466641	0.93204	D	0.496167	0.94544	D	0.999387383460999	0.97194	D	0.89721	0.64041	D	0.99155056	0.99840	0.97812325	0.99766	0.99155056	0.99840	0.97812325	0.99766	-10.554	0.77157	D	0.6384620992970538	0.70882	0.939	0.85795	P	.;.	.;.	4.975185	0.82369	27.8	0.99601032854645888	0.74219	0.96792	0.70964	D	AEFBHCI	0.954025	0.97080	D	0.970884454253493	0.94777	13.03138	0.880455341435966	0.94664	12.94036	1.0	0.98316	0.372202	0.05800	0	0.546412	0.12157	0	0.491513	0.07944	0	0.192219	0.04218	2	.	.	5.59	5.59	0.84677	6.140000	0.71491	7.726000	0.67550	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.934000	0.47231	0.0:1.0:0.0:0.0	19.584	0.95477	798	0.45050	Serpin domain|Serpin domain|Heparin cofactor II;Serpin domain|Serpin domain|Heparin cofactor II	.	.	.	.	.	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	2700.98	35	chr22	20779794	.	C	A	2700.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.824;DP=918;ExcessHet=0.0000;FS=0.510;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.18;ReadPosRankSum=-9.710e-01;SOR=0.714	GT:AD:DP:GQ:PL	0/1:103,102:205:99:2715,0,2582	20	0	1	0
chr22	20780160	20780160	C	G	exonic	SERPIND1	.	nonsynonymous SNV	SERPIND1:NM_000185:exon2:c.C848G:p.P283R,	Thrombophilia due to heparin cofactor II deficiency, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	3311069	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.11	T	0.524	P	0.279	B	0.000	D	1.000	D	2.095	M	-1.86	D	0.138	D	0.583	D	0.778	3.498	17.88	5.18	2.688	7.606	18.882	0.581	0.0392114494586	.	.	8.267e-05	0	0.0003	0	0	1.505e-05	0	0.0004	7.12e-05	11	154602	rs375194591	3.762e-05	3.762e-05	3.403e-05	4.125e-05	0.0003	2.959e-05	2.655e-05	0.0002	0.0002	0	0.0003	0	0	0	0.0003	1.169e-05	3.311e-05	0.0003	2.628e-05	2.627e-05	2.569e-05	2.69e-05	0.0002	8.14e-06	5.14e-06	4.88e-06	1.83e-06	0	0	6.545e-05	0	0	0	0	2.94e-05	0	0.0002	0.044	0.41096	D	0.128	0.34959	T	0.524	0.37583	P	0.279	0.40265	B	0.000000	0.84330	D	0.048286	1	0.81001	D	2.12	0.58754	M	-1.86	0.84341	D	-2.34	0.51811	N	0.695	0.71676	0.138	0.84855	D	0.583	0.85026	D	10	0.6246927	0.68175	D	0.039211	0.58675	D	0.581	0.83137	0.362	0.36711	0.908300580516	0.90738	0.705887968282994	0.70530	0.570378327537	0.53198	0.449381172657	0.31860	T	0.634408	0.88710	D	8.58806e-05	0.51667	T	0.0903073	0.76266	D	0.190966039896011	0.19901	T	0.723028	0.33655	T	0.7018591	0.78158	0.39361337	0.64076	0.7018591	0.78159	0.39361337	0.64076	-6.313	0.48824	T	0.572296807799453	0.63940	0.160	0.37255	B	.;.	.;.	4.000105	0.58929	24.0	0.99491026217686962	0.67460	0.98617	0.84749	D	AEFDBCI	0.977158	0.99709	D	0.363752608945936	0.59471	4.126609	0.413290569082633	0.62393	4.45382	1.0	0.98316	0.50712	0.20391	0	0.54472	0.11627	0	0.547309	0.15389	0	0.635259	0.50027	0	.	.	5.18	5.18	0.71140	7.681000	0.83381	7.685000	0.65502	0.599000	0.40250	1.000000	0.71638	0.996000	0.32793	0.896000	0.43308	0.0:1.0:0.0:0.0	18.882	0.92329	798	0.45050	Serpin domain|Serpin domain|Heparin cofactor II;Serpin domain|Serpin domain|Heparin cofactor II	.	.	.	.	.	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	795.98	35	chr22	20780160	.	C	G	795.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.230e-01;DP=792;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.95;ReadPosRankSum=-7.710e-01;SOR=0.770	GT:AD:DP:GQ:PL	0/1:48,32:80:99:810,0,1301	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	0/1:19,5:24:97:97,0,445	9	0	9	3
chr22	21946008	21946008	C	G	exonic	PPM1F	.	nonsynonymous SNV	PPM1F:NM_014634:exon2:c.G41C:p.S14T,	.	.	421	1084	16	1	0	18	0.00823422	.	.	2134976	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.65	T	0.118	B	0.05	B	0.004	N	1.000	N	0	N	2.56	T	-1.018	T	0.027	T	0.067	-1.634	0.013	1.49	1.502	0.039	6.502	0.054	0.0257790969655	0.0008	0.000599042	0.0012	0	0.0003	0	0	0.0017	0.0012	0.0016	0.0011061	171	154602	rs139013152	0.0008	0.0008	0.0007	0.0009	0.0039	0.0008	0.0008	0.0027	0.0023	0.0001	0.0002	0.0174	2.567e-05	0	0.0039	0.0004	0.0018	0.0013	0.0008	0.0008	0.0008	0.0009	0.0010	0.0007	0.0007	0.0005	0.0005	2.405e-05	0	0.0005	0.0187	0	9.409e-05	0.0034	0.0007	0	0.0010	0.606	0.05668	T	0.63	0.07196	T	0.006	0.26577	B	0.009	0.25278	B	0.004481	0.01026	N	2.694200	1	0.08975	N	0	0.06538	N	2.56	0.22067	T	-0.45	0.14782	N	0.139	0.13769	-1.0178	0.24431	T	0.027	0.11574	T	10	0.0021249056	0.00031	T	0.025779	0.48731	D	0.054	0.15330	.	.	0.170165803431	0.16609	0.12335654753335572	0.12261	0.391337161651	0.40333	0.357301831245	0.18992	T	0.047883	0.27853	T	-0.616148	0.00116	T	-0.703382	0.05643	T	0.0107639225799415	0.00152	T	0.285571	0.05082	T	0.20939964	0.43205	0.046781745	0.06594	0.20939964	0.43205	0.046781745	0.06594	-4.452	0.30256	T	.	.	0.071	0.04558	B	.;.	.;.	0.719235	0.10881	7.556	0.7109853634938238	0.09515	0.03943	0.09341	N	AEFBHCI	0.044107	0.07055	N	-1.00542435511144	0.08490	0.3982985	-0.992517248170322	0.09952	0.4982417	0.999674215809566	0.41644	0.722319	0.85440	0	0.80507	0.99744	0	0.709663	0.75317	0	0.735409	0.98432	0	.	.	2.68	1.49	0.21966	0.228000	0.17594	.	.	0.547000	0.25779	0.000000	0.06391	0.001000	0.17328	0.077000	0.17074	0.1942:0.6142:0.1916:0.0	6.502	0.21371	698	0.58074	.;.	.	.	.	.	.	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	781.98	36	chr22	21946008	.	C	G	781.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.32;DP=763;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.71;ReadPosRankSum=1.03;SOR=0.600	GT:AD:DP:GQ:PL	0/1:43,30:73:99:796,0,1085	20	0	1	0
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	0/1:79,37:116:99:1315,0,3206	5	0	16	0
chr22	23311830	23311830	G	A	exonic	BCR	.	nonsynonymous SNV	BCR:NM_021574:exon18:c.G3184A:p.D1062N	Leukemia, acute lymphocytic, somatic;Leukemia, chronic myeloid, somatic	.	59	994	464	5	0	474	0.192526	.	.	247185	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.14	T	0.986	D	0.771	P	0.000	D	1.000	D	1.13	L	2.66	T	-1.146	T	0.053	T	0.225	5.285	33	4.49	2.258	9.533	16.632	0.231	0.0272677260962	.	.	.	.	.	.	.	.	.	.	.	.	.	rs879255379	3.426e-06	6.156e-06	5.454e-06	1.377e-06	2.994e-05	1e-06	7.3e-07	7.2e-07	2e-07	2.994e-05	2.236e-05	0	0	0	0	2.698e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.071	0.35726	T	0.018	0.59732	D	0.976	0.58310	D	0.752	0.56092	P	0.000000	0.84330	D	0.000000	1	0.81001	D	0.765	0.19305	N	2.66	0.12575	T	-3.28	0.65627	D	0.843	0.83885	-1.1463	0.01139	T	0.053	0.22423	T	10	0.81994617	0.81205	D	0.027268	0.50098	D	0.231	0.53208	.	.	0.600008996327	0.59681	0.3965005129848048	0.39565	2.73974519172	0.98685	0.815404891968	0.84322	D	0.308497	0.68058	T	-0.175721	0.24374	T	-0.490187	0.23372	T	0.916451156139374	0.57389	D	0.875712	0.89686	D	0.43747994	0.63240	0.3549618	0.61031	0.43747994	0.63240	0.3549618	0.61031	-6.831	0.53477	T	.	.	0.771	0.75988	P	.;.	.;.	5.927754	0.94089	33	0.99910446622876614	0.98022	0.98481	0.83233	D	AEFBI	0.912634	0.87354	D	0.533033419009816	0.69054	5.303049	0.562786706860508	0.72290	5.786788	0.9999990001556	0.74766	0.706298	0.61202	0	0.702456	0.74545	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	4.49	4.49	0.54177	9.664000	0.97881	6.611000	0.56088	0.671000	0.69459	1.000000	0.71638	1.000000	0.68203	0.953000	0.50222	0.0:0.0:1.0:0.0	16.632	0.84893	940	0.13648	Rho GTPase-activating protein domain|Rho GTPase-activating protein domain|Rho GTPase-activating protein domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.2143	1509.16	36	chr22	23311830	.	G	A	1509.16	.	AC=9;AF=0.214;AN=42;BaseQRankSum=2.22;DP=1620;ExcessHet=4.7172;FS=18.276;InbreedingCoeff=-0.2741;MLEAC=9;MLEAF=0.214;MQ=57.72;MQRankSum=-8.970e+00;QD=1.86;ReadPosRankSum=-2.564e+00;SOR=2.383	GT:AD:DP:GQ:PL	0/1:74,17:91:99:263,0,2002	12	0	9	0
chr22	24756651	24756651	C	T	exonic	PIWIL3	.	nonsynonymous SNV	PIWIL3:NM_001008496:exon5:c.G410A:p.R137H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.16	T	0.944	P	0.286	B	0.000	U	1.000	N	1.47	L	2.85	T	-0.994	T	0.013	T	0.156	0.946	8.858	-2.07	-0.419	0.142	7.270	0.097	0.0012204371444	0.0015	0.00199681	0.0005	0.0045	0.0006	0	0	4.583e-05	0	0.0002	0.0005304	82	154602	rs113771741	0.0002	0.0002	0.0002	0.0002	0.0051	0.0002	0.0002	0.0045	0.0042	0.0051	0.0005	0	0	1.872e-05	0.0016	2.158e-05	0.0010	0.0002	0.0012	0.0012	0.0013	0.0012	0.0042	0.0011	0.0010	0.0037	0.0035	0.0042	0	0.0003	0	0	0	0.0034	5.88e-05	0	0.0006	0.117	0.28271	T	0.187	0.29442	T	0.944	0.53183	P	0.225	0.40541	B	0.000014	0.62929	U	0.066862	1	0.08975	N	1.265	0.31966	L	2.85	0.10578	T	-2.37	0.52289	N	0.138	0.16447	-0.9941	0.31538	T	0.013	0.05225	T	10	0.0068090856	0.00155	T	0.00122	0.01608	T	0.097	0.27909	.	.	0.235038932564	0.23097	0.14761343979150873	0.14683	0.136378532373	0.15383	0.216807514429	0.01134	T	0.013877	0.11917	T	-0.6232	0.00105	T	-0.668105	0.07731	T	0.0240667232965221	0.01153	T	0.813419	0.48908	T	0.044617757	0.07163	0.0414295	0.04708	0.044617757	0.07162	0.0414295	0.04707	-4.624	0.32472	T	.	.	0.087	0.17869	B	.;.;.;.	.;.;.;.	-0.099367	0.03644	0.727	0.97294521605952511	0.33247	0.00811	0.03288	N	AEFGBI	0.033934	0.04114	N	-1.02270438670669	0.08133	0.3803277	-1.21443549091675	0.05677	0.2711808	0.436676136395559	0.20418	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	2.51	-2.07	0.06873	0.284000	0.18624	-5.148000	0.01830	-0.286000	0.06345	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.5099:0.0:0.4901	7.270	0.25429	483	0.77230	.;.;.;.	.	.	.	.	.	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	1466.98	33	chr22	24756651	.	C	T	1466.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.28;DP=806;ExcessHet=0.0000;FS=2.651;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.67;ReadPosRankSum=-1.520e-01;SOR=0.976	GT:AD:DP:GQ:PL	0/1:46,54:100:99:1481,0,1071	20	0	1	0
chr22	25847599	25847599	G	T	exonic	MYO18B	.	nonsynonymous SNV	MYO18B:NM_001318245:exon20:c.G3725T:p.R1242M	Klippel-Feil syndrome 4, autosomal recessive, with myopathy and facial dysmorphism, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07	T	1.0	D	0.983	D	0.000	D	0.999	D	1.785	L	-0.65	T	-0.095	T	0.461	T	0.744	3.134	16.48	4.31	2.239	8.495	14.324	0.639	0.106748524948	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	3.42e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.002	0.79402	D	1.0	0.90584	D	0.983	0.75793	D	0.000001	0.62929	D	0.063987	0.998644	0.45212	D	2.445	0.70938	M	-0.65	0.72237	T	-5.41	0.85176	D	0.749	0.74826	-0.0954	0.80204	T	0.461	0.79072	T	10	0.84603167	0.83769	D	0.106749	0.78250	D	0.639	0.86232	0.621	0.75576	0.885320208482	0.88419	0.7251390482006312	0.72457	0.414985916362	0.42166	0.691229403019	0.65883	T	0.434483	0.78155	T	0.189185	0.72889	D	0.0339745	0.72536	D	0.997551739215851	0.91838	D	0.827517	0.49142	T	0.48127577	0.65977	0.49162596	0.70592	0.48127577	0.65978	0.49162596	0.70593	-11.707	0.83542	D	.	.	0.707	0.74506	P	.;.;.	.;.;.	4.731979	0.76230	26.5	0.96485367578746417	0.29988	0.98937	0.88877	D	AEFGBI	0.927730	0.91084	D	0.604848308893051	0.73481	5.973093	0.53961812295528	0.70680	5.54067	0.999999620326677	0.74766	0.487112	0.14033	0	0.547309	0.14657	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	4.31	4.31	0.50718	8.898000	0.92168	11.851000	0.98077	0.657000	0.54293	1.000000	0.71638	1.000000	0.68203	0.797000	0.37605	0.0:0.0:1.0:0.0	14.324	0.66067	976	0.04745	Myosin head, motor domain|Myosin head, motor domain|Class XVIII myosin, motor domain;Myosin head, motor domain|Myosin head, motor domain|Class XVIII myosin, motor 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	1362.98	33	chr22	25847599	.	G	T	1362.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.121;DP=802;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.66;ReadPosRankSum=0.123;SOR=0.733	GT:AD:DP:GQ:PL	0/1:44,49:93:99:1377,0,1143	20	0	1	0
chr22	27798945	27798945	-	TGCTGC	exonic	MN1	.	nonframeshift insertion	MN1:NM_002430:exon1:c.1598_1599insGCAGCA:p.Q550_R551insQQ,	Meningioma, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	2352190	not_provided|Inborn_genetic_diseases	MedGen:C3661900|MeSH:D030342,MedGen:C0950123	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0035	0.0021	0.0071	0.0015	0	0.0056	0	0.0004	0.0002689	7	26028	rs572936881	0.0048	0.0049	0.0050	0.0047	0.0056	0.0047	0.0047	0.0054	0.0054	0.0019	0.0037	0.0045	0.0008	0.0027	0.0016	0.0056	0.0045	0.0005	0.0039	0.0039	0.0042	0.0036	0.0058	0.0036	0.0035	0.0053	0.0051	0.0018	0.0110	0.0033	0.0047	0.0014	0.0018	0.0034	0.0058	0.0059	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09524	2854.12	35	chr22	27798945	.	T	TTGC,TTGCTGC	2854.12	.	AC=3,1;AF=0.071,0.024;AN=42;BaseQRankSum=0.942;DP=853;ExcessHet=0.6776;FS=0.000;InbreedingCoeff=-0.1053;MLEAC=3,1;MLEAF=0.071,0.024;MQ=60.00;MQRankSum=0.00;QD=17.19;ReadPosRankSum=1.01;SOR=0.648	GT:AD:DP:GQ:PL	0/1:16,19,0:35:99:720,0,597,769,654,1423	17	0	3	0
chr22	28306556	28306556	G	C	exonic	TTC28	.	nonsynonymous SNV	TTC28:NM_001145418:exon3:c.C469G:p.P157A,	.	.	436	1084	2	0	0	2	0.000921659	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.18	T	0.843	P	0.517	P	0.000	D	1.000	D	1.635	L	-3.6	D	0.657	D	0.810	D	0.825	4.049	20.8	5.72	2.700	7.633	18.877	0.850	0.0461984921565	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.148e-07	6.84e-07	0	1.449e-06	9.269e-07	0	0	.	.	0	0	0	0	0	0	9.269e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.074	0.34621	T	0.125	0.35330	T	0.843	0.46605	P	0.517	0.48105	P	0.000000	0.84330	D	0.000000	1	0.81001	D	2.08	0.57402	M	-3.6	0.95009	D	-4.12	0.75058	D	0.802	0.79792	0.657	0.92633	D	0.810	0.93575	D	10	0.82962984	0.82129	D	0.046198	0.62343	D	0.850	0.95360	0.652	0.78963	0.855762016109	0.85437	0.6829927972256764	0.68238	.	.	0.835599958897	0.87421	D	0.075951	0.36100	T	0.363045	0.87486	D	0.283712	0.87324	D	0.979026436805725	0.72620	D	0.961904	0.85651	D	0.29634008	0.52574	0.30478498	0.56507	0.29634008	0.52574	0.30478498	0.56506	-7.872	0.60194	D	.	.	0.321	0.63844	B	.;.	.;.	4.834069	0.78857	27.0	0.99444798410691915	0.64971	0.97810	0.77299	D	AEFGI	0.896628	0.83790	D	0.578877641850151	0.71859	5.715157	0.650120643487224	0.78620	6.912937	0.999991146363754	0.74766	0.615465	0.37627	0	0.588015	0.36545	0	0.658983	0.55881	0	0.655142	0.61905	0	.	.	5.72	5.72	0.89380	7.774000	0.84234	11.800000	0.96626	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:1.0:0.0	18.877	0.92311	470	0.78111	Tetratricopeptide repeat-containing domain;Tetratricopeptide repeat-containing 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	1166.98	33	chr22	28306556	.	G	C	1166.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.170e-01;DP=790;ExcessHet=0.0000;FS=5.298;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.55;ReadPosRankSum=1.86;SOR=0.389	GT:AD:DP:GQ:PL	0/1:42,51:93:99:1181,0,967	20	0	1	0
chr22	29489138	29489138	-	AAACAA	exonic	NEFH	.	nonframeshift insertion	NEFH:NM_021076:exon4:c.1498_1499insAAACAA:p.K502_S503insTK,	Charcot-Marie-Tooth disease, axonal, type 2CC, Autosomal dominant	.	361	1159	2	0	0	2	0.000862069	.	.	729130	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0076	0.00698882	0.0025	0.0272	0.0011	0	0	7.787e-05	0	0.0001	0.0006531	17	26028	rs576586746	0.0008	0.0008	0.0009	0.0007	0.0268	0.0008	0.0008	0.0253	0.0247	0.0268	0.0013	0	0	0	0.0005	0.0001	0.0018	5.798e-05	0.0079	0.0079	0.0080	0.0077	0.0277	0.0075	0.0073	0.0263	0.0258	0.0277	0	0.0021	0	0	0	0	8.819e-05	0.0038	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2531.94	34	chr22	29489138	.	G	GAAACAA	2531.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.730e-01;DP=921;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=21.64;ReadPosRankSum=-1.259e+00;SOR=0.741	GT:AD:DP:GQ:PL	0/1:52,65:117:99:2546,0,1954	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|1:111,20:131:99:0|1:36265782_G_T:305,0,4359:36265782	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|1:114,21:135:99:0|1:36265782_G_T:324,0,4453:36265782	17	0	4	0
chr22	36316560	36316560	G	C	exonic	MYH9	.	nonsynonymous SNV	MYH9:NM_002473:exon12:c.C1337G:p.S446C,	Deafness, autosomal dominant 17, Autosomal dominant;Epstein syndrome, Autosomal dominant;Fechtner syndrome, Autosomal dominant;Macrothrombocytopenia and progressive sensorineural deafness, Autosomal dominant;May-Hegglin anomaly, Autosomal dominant;Sebastian syndrome, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.13	T	0.839	P	0.211	B	0.000	D	1.000	D	2.625	M	-2.36	D	0.426	D	0.660	D	0.853	4.564	24.7	5.1	2.538	9.869	18.547	0.692	0.324217944934	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.844e-07	8.688e-05	1.362e-06	0	8.999e-07	0	0	.	.	0	0	0	0	0	0	8.999e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.113	0.36901	T	0.839	0.46454	P	0.211	0.37346	B	0.000000	0.84330	D	0.000000	1	0.81001	D	2.15	0.60148	M	-2.36	0.88143	D	-4.71	0.79915	D	0.878	0.87590	0.426	0.89483	D	0.660	0.88197	D	10	0.9259001	0.91938	D	0.324218	0.91564	D	0.692	0.88820	0.645	0.78224	0.961098647398	0.96068	0.8395035233604805	0.83910	2.00279492732	0.93841	0.889070630074	0.95144	D	0.822647	0.95680	D	0.384396	0.88989	D	0.314382	0.88851	D	0.996383428573608	0.89236	D	0.944506	0.78979	D	0.92190284	0.93432	0.7688183	0.86348	0.92190284	0.93433	0.7688183	0.86349	-11.156	0.80506	D	0.8877937243935591	0.94347	0.351	0.56631	A	.	.	4.590653	0.72606	25.9	0.99319532239500308	0.59317	0.97062	0.72468	D	AEFBHCI	0.962230	0.98376	D	0.558250758971841	0.70586	5.523309	0.579599439697102	0.73481	5.977167	0.999999999999999	0.74766	0.722319	0.85440	0	0.702456	0.74545	0	0.702456	0.68683	0	0.735409	0.98432	0	.	.	5.1	5.1	0.68917	10.003000	0.99689	7.593000	0.61311	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.877000	0.41881	0.0:0.0:1.0:0.0	18.547	0.91003	492	0.76569	Myosin head, motor domain|Myosin head, motor domain|Myosin head, motor 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	0.1429	1924.07	73	chr22	36316560	.	G	C	1924.07	.	AC=6;AF=0.143;AN=42;BaseQRankSum=-3.731e+00;DP=1544;ExcessHet=1.7912;FS=261.121;InbreedingCoeff=-0.1672;MLEAC=6;MLEAF=0.143;MQ=60.00;MQRankSum=0.00;QD=3.69;ReadPosRankSum=1.93;SOR=9.608	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:56,11:67:94:0|1:36316559_G_C:94,0,2249:36316559	15	0	6	0
chr22	37510307	37510307	-	CTCCTT	exonic	CARD10	.	nonframeshift insertion	CARD10:NM_014550:exon4:c.813_814insAAGGAG:p.E273_P274insKE,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2143	16961.64	74	chr22	37510301	.	GCTCCTT	G,GCTCCTTCTCCTT	16961.64	.	AC=9,1;AF=0.214,0.024;AN=42;BaseQRankSum=-1.560e-01;DP=1329;ExcessHet=0.2067;FS=0.550;InbreedingCoeff=0.2125;MLEAC=9,1;MLEAF=0.214,0.024;MQ=60.00;MQRankSum=0.00;QD=27.36;ReadPosRankSum=0.379;SOR=0.644	GT:AD:DP:GQ:PL	0/1:39,58,0:97:99:2309,0,1461,2427,1638,4064	13	1	6	0
chr22	42128812	42128812	A	G	exonic	CYP2D6;CYP2D7	.	nonsynonymous SNV	CYP2D6:NM_001025161:exon3:c.T485C:p.L162P	.	.	1	1317	204	0	0	204	0.0718816	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.985	D	0.956	D	0.079	N	0.984	D	3.03	M	-0.46	T	0.414	D	0.663	D	0.879	2.493	14.30	3.52	1.832	2.182	8.696	0.557	0.0602619546016	.	.	0.0034	0.0012	0.0015	0.0014	0.0018	0.0047	0.0040	0.0021	0.0023544	364	154602	rs199535154	0.0003	0.0094	0.0003	0.0003	0.0022	0.0002	0.0002	0.0013	0.0011	0.0015	0.0003	0.0004	0.0006	0.0006	0.0022	0.0002	0.0003	0.0003	0.0001	0.0016	6.523e-05	0.0002	0.0004	7.691e-05	6.376e-05	0.0001	8.654e-05	0.0002	0	0	0	0.0004	0	0	0.0001	0	0	0.016	0.72154	D	0.004	0.74150	D	.	.	.	.	.	.	0.079050	0.21007	N	0.393637	0.984414	0.40142	D	3.135	0.88152	M	-1.43	0.80730	T	-5.73	0.87611	D	0.817	0.81261	0.414	0.89311	D	0.663	0.88295	D	10	0.12101528	0.22933	T	0.060262	0.67943	D	0.557	0.81774	.	.	0.906819982349	0.90588	0.8191287958858098	0.81869	0.67802315983	0.59861	0.312496066093	0.12283	T	0.044594	0.40051	T	0.029515	0.55659	T	0.219179	0.84132	D	0.250423282384872	0.22892	T	0.739826	0.35853	T	0.5728783	0.71218	0.38634163	0.63529	0.5728783	0.71219	0.38634163	0.63529	-9.555	0.71201	D	.	.	0.479	0.69738	A	.;.;.;.;.	.;.;.;.;.	3.184167	0.43231	21.7	0.99267575361889293	0.57423	0.11286	0.16533	N	AEFDBI	0.398871	0.47438	N	0.0379738385441093	0.43589	2.64896	-0.230169009795182	0.30461	1.715271	5.06273264100705E-4	0.07176	0.554377	0.28877	0	0.588066	0.40923	0	0.576033	0.28219	0	0.604944	0.38103	0	.	.	3.52	3.52	0.39415	2.920000	0.48541	1.949000	0.29874	-0.094000	0.16080	0.013000	0.18845	0.000000	0.08366	0.000000	0.00833	1.0:0.0:0.0:0.0	8.696	0.33455	106	0.95650	.;.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	891.68	38	chr22	42128812	.	A	G	891.68	.	AC=3;AF=0.071;AN=42;BaseQRankSum=-4.540e-01;DP=1677;ExcessHet=0.3300;FS=18.967;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=52.04;MQRankSum=-5.575e+00;QD=1.64;ReadPosRankSum=-3.230e+00;SOR=2.825	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:130,11:141:71:0|1:42128812_A_G:71,0,5416:42128812	18	0	3	0
chr22	46258731	46258731	G	A	exonic	PKDREJ	.	nonsynonymous SNV	PKDREJ:NM_006071:exon1:c.C4592T:p.P1531L,	.	.	435	1077	10	0	0	10	0.00462107	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09	T	0.645	P	0.058	B	0.000	N	1.000	N	1.445	L	1.29	T	-1.018	T	0.051	T	0.1	1.037	9.234	1.91	0.472	0.385	5.423	0.112	.	0.0027	0.00399361	0.0014	0.0084	0.0006	0.0001	0	0.0007	0.0022	0.0013	0.001326	205	154602	rs143126011	0.0006	0.0006	0.0006	0.0006	0.0116	0.0005	0.0005	0.0094	0.0086	0.0071	0.0012	0.0011	2.519e-05	0	0.0116	0.0002	0.0013	0.0011	0.0026	0.0026	0.0026	0.0026	0.0072	0.0024	0.0023	0.0065	0.0063	0.0072	0	0.0031	0.0023	0	0	0.0068	0.0004	0.0009	0.0010	0.031	0.45039	D	0.121	0.35840	T	0.645	0.40526	P	0.058	0.26451	B	0.000016	0.00162	N	1824.730000	1	0.08975	N	1.175	0.29870	L	1.29	0.35775	T	-1.53	0.37178	N	0.087	0.06454	-1.0181	0.24334	T	0.051	0.21806	T	10	0.0041632056	0.00082	T	.	.	.	0.112	0.31546	.	.	0.367803931526	0.36392	0.17621651183938522	0.17540	.	.	0.222104758024	0.01435	T	0.296042	0.66869	T	-0.615655	0.00117	T	-0.651432	0.08854	T	0.00551332672184065	0.00060	T	0.517348	0.16736	T	0.043422844	0.06765	0.041270975	0.04654	0.043422844	0.06765	0.041270975	0.04653	-3.539	0.16982	T	.	.	0.098	0.16319	B	.	.	0.862670	0.12349	8.890	0.49857143063403619	0.04283	0.24245	0.22333	N	AEFBCI	0.052398	0.09350	N	-0.835493953407956	0.12410	0.6047404	-0.939526110710773	0.11167	0.5672501	0.993835964777376	0.33375	0.497415	0.19182	0	0.59043	0.45803	0	0.59043	0.30614	0	0.530356	0.10902	0	.	.	4.06	1.91	0.24841	0.578000	0.23476	-5.894000	0.01561	-0.242000	0.07441	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.1126:0.2065:0.6809:0.0	5.423	0.15708	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	1639.98	37	chr22	46258731	.	G	A	1639.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.76;DP=1037;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.12;ReadPosRankSum=0.250;SOR=0.741	GT:AD:DP:GQ:PL	0/1:67,58:125:99:1654,0,1705	20	0	1	0
chr22	46262307	46262307	A	G	exonic	PKDREJ	.	nonsynonymous SNV	PKDREJ:NM_006071:exon1:c.T1016C:p.V339A,	.	.	433	1078	11	0	0	11	0.00507614	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.34	T	0.979	D	0.629	P	0.444	N	1.000	N	2.19	M	-0.76	T	-0.739	T	0.304	T	0.287	2.081	12.92	3.75	0.794	1.476	6.313	0.276	.	0.0025	0.00419329	0.0013	0.0088	0.0007	0	0	0.0007	0.0022	0.0004	0.0012548	194	154602	rs113301350	0.0005	0.0005	0.0005	0.0005	0.0118	0.0005	0.0005	0.0095	0.0087	0.0079	0.0014	0.0011	0	0	0.0118	0.0002	0.0014	0.0004	0.0028	0.0028	0.0028	0.0027	0.0078	0.0025	0.0025	0.0071	0.0068	0.0078	0	0.0034	0.0023	0	0	0.0068	0.0004	0.0009	0.0004	0.193	0.20912	T	0.06	0.45744	T	0.979	0.59044	D	0.629	0.51727	P	0.443658	0.12595	N	0.702903	1	0.08975	N	1.91	0.51138	L	-0.76	0.73417	T	-1.23	0.31170	N	0.311	0.35088	-0.7390	0.58504	T	0.304	0.67464	T	10	0.008540809	0.00194	T	.	.	.	0.276	0.59253	.	.	0.498065138572	0.49443	0.5678703367868976	0.56715	.	.	0.361530005932	0.19609	T	0.375412	0.73901	T	-0.408927	0.02021	T	-0.353632	0.38790	T	0.0257246808521561	0.01369	T	0.635836	0.24975	T	0.10143025	0.23959	0.0934973	0.22087	0.10143025	0.23959	0.0934973	0.22086	-5.771	0.44321	T	.	.	0.218	0.44822	B	.	.	1.368724	0.17788	13.37	0.81356584832736334	0.13645	0.11278	0.16527	N	AEFBI	0.079206	0.15995	N	-0.239196898462056	0.31536	1.769352	-0.421255726066775	0.24375	1.33439	0.999946225620328	0.47345	0.59774	0.34471	0	0.596491	0.49125	0	0.596491	0.31596	0	0.63947	0.58350	0	.	.	4.78	3.75	0.42236	1.575000	0.36103	6.475000	0.55724	0.756000	0.94297	0.006000	0.17386	0.942000	0.28804	0.004000	0.06068	0.7535:0.1595:0.087:0.0	6.313	0.20382	944	0.12746	PKD/REJ-like domain|REJ 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	1453.98	37	chr22	46262307	.	A	G	1453.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.97;DP=942;ExcessHet=0.0000;FS=0.647;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.24;ReadPosRankSum=0.177;SOR=0.798	GT:AD:DP:GQ:PL	0/1:85,57:142:99:1468,0,2299	20	0	1	0
chr22	46262994	46262994	A	G	exonic	PKDREJ	.	nonsynonymous SNV	PKDREJ:NM_006071:exon1:c.T329C:p.L110P,	.	.	436	1078	8	0	0	8	0.00369686	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3	T	0.0	B	0.0	B	0.004	N	1.000	N	0	N	0.95	T	-1.069	T	0.053	T	0.119	1.308	10.28	-0.751	-0.145	-0.003	3.162	0.038	.	.	0.00539137	0	0	0	0	.	0	0	0	0.0015368	40	26028	rs541646668	0.0004	0.0004	0.0004	0.0004	0.0108	0.0004	0.0004	0.0078	0.0074	0.0089	0.0011	0.0009	0	0	0.0108	0.0002	0.0012	0.0003	0.0034	0.0033	0.0033	0.0035	0.0113	0.0032	0.0031	0.0103	0.0100	0.0113	0	0.0036	0.0024	0	0	0.0070	0.0005	0.0015	0.0004	0.045	0.40832	D	0.088	0.40586	T	0.0	0.02946	B	0.0	0.01387	B	0.004339	0.01018	N	4.226530	1	0.08975	N	-0.345	0.03330	N	0.95	0.43279	T	0.89	0.01641	N	0.055	0.02658	-1.0685	0.09746	T	0.053	0.22423	T	10	0.0038192868	0.00072	T	.	.	.	0.038	0.09825	.	.	0.159798565429	0.15598	0.33723603990989004	0.33636	.	.	0.735805273056	0.72355	T	0.093834	0.39293	T	-0.655683	0.00067	T	-0.708505	0.05372	T	0.0205111959072796	0.00751	T	0.172683	0.01646	T	0.08744768	0.20363	0.1158423	0.27965	0.08744768	0.20363	0.1158423	0.27965	-2.236	0.04219	T	.	.	0.038	0.00009	B	.	.	0.793515	0.11639	8.226	0.52970097355771006	0.04849	0.00210	0.01196	N	AEFDBCIJ	0.015994	0.00334	N	-1.55995192706449	0.01477	0.06447882	-1.57749633058605	0.01793	0.0816331	0.999993733874849	0.74766	0.497415	0.19182	0	0.59043	0.45803	0	0.503968	0.08637	0	0.554799	0.18163	0	.	.	3.22	-0.751	0.10518	-0.387000	0.07419	-11.338000	0.00613	-1.464000	0.01079	0.000000	0.06391	0.000000	0.08366	0.015000	0.10482	0.2729:0.0:0.4515:0.2756	3.162	0.06134	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	374.98	20	chr22	46262994	.	A	G	374.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.05;DP=684;ExcessHet=0.0000;FS=1.643;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.30;ReadPosRankSum=-1.132e+00;SOR=1.112	GT:AD:DP:GQ:PL	0/1:8,15:23:99:389,0,129	20	0	1	0
chr22	46364623	46364623	C	T	exonic	CELSR1	.	nonsynonymous SNV	CELSR1:NM_001378328:exon33:c.G8668A:p.V2890M	.	.	.	.	.	.	.	.	.	.	.	3303905	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.03	D	1.0	D	0.931	D	0.000	U	1.000	D	2.32	M	-0.54	T	0.109	D	0.510	D	0.37	4.946	28.7	4.62	2.095	6.921	17.072	0.287	0.278613357475	7.7e-05	0.000599042	0.0001	0	0	0	0	9.335e-05	0	0.0006	0.0001423	22	154602	rs371493557	6.779e-05	6.772e-05	5.042e-05	8.534e-05	0.0007	5.675e-05	5.266e-05	0.0005	0.0005	8.962e-05	2.237e-05	0	0	1.92e-05	0.0007	1.979e-05	0.0002	0.0007	5.906e-05	5.905e-05	3.853e-05	8.053e-05	0.0010	3.074e-05	2.208e-05	0.0004	0.0003	2.404e-05	0	6.53e-05	0	0	0	0	2.94e-05	0	0.0010	0.032	0.44694	D	0.023	0.57104	D	1.0	0.90584	D	0.931	0.66596	D	0.000309	0.45977	U	0.000000	0.990038	0.41073	D	2.485	0.72352	M	-0.54	0.70950	T	-1.04	0.27259	N	0.633	0.64648	0.109	0.84341	D	0.510	0.81599	D	10	0.2533046	0.42695	T	0.278613	0.90148	D	0.287	0.60574	.	.	0.717119659472	0.71463	0.18631448090650202	0.18549	0.700790970231	0.61113	0.710299372673	0.68637	T	0.180426	0.53175	T	-0.217594	0.18322	T	-0.189541	0.55632	T	0.322503626346588	0.25923	T	0.941406	0.78138	D	0.2093422	0.43199	0.12983383	0.31210	0.21489424	0.43908	0.16001035	0.37288	-5.409	0.41006	T	.	.	0.291	0.52219	B	.	.	5.241558	0.87993	29.4	0.9985164037245019	0.93102	0.91436	0.53530	D	AEFDBHCI	0.835612	0.75349	D	0.718998496351292	0.80877	7.392893	0.670436126581519	0.80139	7.233233	0.999999999998221	0.74766	0.695654	0.57023	0	0.187218	0.04217	2	0.723109	0.80598	0	0.604944	0.38103	0	.	.	4.62	4.62	0.56946	7.020000	0.76158	5.448000	0.48638	0.596000	0.33519	1.000000	0.71638	1.000000	0.68203	0.990000	0.65344	0.0:1.0:0.0:0.0	17.072	0.86451	964	0.07719	.	.	.	.	.	.	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	1066.98	38	chr22	46364623	.	C	T	1066.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.12;DP=855;ExcessHet=0.0000;FS=3.645;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.07;ReadPosRankSum=-1.180e+00;SOR=0.816	GT:AD:DP:GQ:PL	0/1:61,45:106:99:1081,0,1506	20	0	1	0
chr22	50286251	50286251	C	T	exonic	PLXNB2	.	nonsynonymous SNV	PLXNB2:NM_001376869:exon8:c.G1799A:p.R600Q	.	.	421	1100	1	0	0	1	0.000454339	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.53	T	0.049	B	0.007	B	0.839	N	1.000	N	1.5	L	4.01	T	-0.966	T	0.010	T	0.071	1.512	11.01	-8.0	-1.908	-0.816	12.719	0.063	0.0159492683888	.	.	3.34e-05	0.0001	8.657e-05	0	0	1.518e-05	0	6.058e-05	3.23e-05	5	154602	rs756708347	1.164e-05	1.163e-05	6.811e-06	1.651e-05	6.709e-05	7.09e-06	5.8e-06	1.779e-05	8.93e-06	0	6.709e-05	0	0	0	0	9.893e-06	0	3.478e-05	4.597e-05	4.593e-05	2.57e-05	6.715e-05	0.0004	2.108e-05	1.526e-05	7.29e-05	3.029e-05	7.219e-05	0	0	0	0	0	0	2.941e-05	0	0.0004	0.382	0.11120	T	0.585	0.08361	T	0.049	0.22227	B	0.007	0.12992	B	0.838540	0.06985	N	1.094830	1	0.08975	N	2.3	0.65703	M	4.01	0.03208	T	0.1	0.05810	N	0.085	0.06454	-0.9659	0.38033	T	0.010	0.03765	T	10	0.061506897	0.07721	T	0.015949	0.36960	T	0.063	0.18251	0.555	0.67271	0.554581087438	0.55116	0.21777045685103869	0.21693	0.368334777658	0.38387	0.22262892127	0.01467	T	0.081725	0.36664	T	-0.511696	0.00491	T	-0.770139	0.02763	T	0.0515380375099704	0.05769	T	0.466753	0.13720	T	0.020768749	0.00649	0.031148836	0.01664	0.020768749	0.00648	0.031148836	0.01664	-5.644	0.43192	T	.	.	0.066	0.02702	B	.;.	.;.	-0.363523	0.02352	0.255	0.91074765759006271	0.20327	0.04026	0.09460	N	AEFBCI	0.091967	0.18623	N	-1.55770566300801	0.01490	0.06505043	-1.71218938072808	0.01084	0.04869958	0.999993734126182	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.723109	0.80598	0	0.711	0.71501	0	.	.	4.0	-8.0	0.00995	-2.019000	0.01531	-4.358000	0.02198	-1.780000	0.00653	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.3097:0.0:0.6903	12.719	0.56500	616	0.66398	.;.	.	.	.	.	.	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	1077.98	41	chr22	50286251	.	C	T	1077.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.822;DP=1016;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.47;ReadPosRankSum=-2.170e-01;SOR=0.624	GT:AD:DP:GQ:PL	0/1:38,42:80:99:1092,0,885	20	0	1	0
chr22	50580397	50580397	G	A	exonic	CHKB	.	nonsynonymous SNV	CHKB:NM_005198:exon6:c.C697T:p.P233S,	Muscular dystrophy, congenital, megaconial type, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	1419027	Megaconial_type_congenital_muscular_dystrophy	MONDO:MONDO:0011246,MedGen:C1865233,OMIM:602541,Orphanet:280671	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.65	T	0.016	B	0.028	B	0.000	D	0.999	D	0.695	N	0.42	T	-1.056	T	0.085	T	0.357	1.810	12.01	4.38	2.541	3.550	8.162	0.076	0.011811685336	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1373704548	1.368e-06	1.368e-06	0	2.75e-06	8.993e-07	2.3e-07	9e-08	.	.	0	0	0	0	0	0	8.993e-07	1.656e-05	0	6.572e-06	6.567e-06	0	1.346e-05	.	0	0	.	.	0	0	0	0	0	0	0	0	0.0005	0	0.576	0.06067	T	0.742	0.04947	T	0.016	0.17332	B	0.028	0.21332	B	0.000000	0.84330	D	0.000000	0.99914	0.46174	D	0.735	0.18861	N	0.42	0.56937	T	-0.38	0.13418	N	0.29	0.32812	-1.0564	0.12672	T	0.085	0.33014	T	10	0.20489699	0.36698	T	0.011812	0.29802	T	0.076	0.22200	0.26	0.20315	0.71530076483	0.71280	0.5587756702066397	0.55804	.	.	0.476059108973	0.35514	T	0.065054	0.32592	T	-0.0811647	0.39525	T	-0.354364	0.38705	T	0.338189840316772	0.26552	T	0.865613	0.56501	D	0.22235557	0.44833	0.120216966	0.29014	0.22235557	0.44833	0.120216966	0.29014	-6.58	0.50900	T	0.14027450027486355	0.15683	0.088	0.11749	B	.	.	3.310225	0.45477	22.1	0.86390848151287081	0.16504	0.96318	0.68553	D	AEFDBI	0.614779	0.60197	D	-0.270068397434066	0.30310	1.688829	-0.0848833221673422	0.36015	2.090571	0.999999960337774	0.74766	0.706548	0.73137	0	0.696144	0.67643	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.41	4.38	0.52019	3.212000	0.50847	7.211000	0.57822	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.929000	0.46594	0.0868:0.1576:0.7556:0.0	8.162	0.30363	592	0.68746	.	.	.	.	.	.	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	5597.98	43	chr22	50580397	.	G	A	5597.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.19;DP=1682;ExcessHet=0.0000;FS=0.546;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.17;ReadPosRankSum=-7.500e-02;SOR=0.625	GT:AD:DP:GQ:PL	0/1:252,208:460:99:5612,0,6971	20	0	1	0
chrX	6533793	6533793	C	0	exonic	VCX3A	.	.	.	.	.	0	211	6	0	9	15	0.0140187	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05263	588.78	41	chrX	6533793	.	C	T,*	588.78	.	AC=1,1;AF=0.026,0.026;AN=38;BaseQRankSum=3.05;DP=3620;ExcessHet=0.1072;FS=0.484;InbreedingCoeff=-0.0769;MLEAC=1,1;MLEAF=0.026,0.026;MQ=46.67;MQRankSum=-4.214e+00;QD=1.55;ReadPosRankSum=-1.932e+00;SOR=0.760	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:132,26,0:158:99:0|1:6533793_C_T:602,0,5259,999,5336,6335:6533793	17	0	1	2
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	0/1:18,23,0:41:99:.:.:888,0,604,861,1020,3671	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	0/1:18,23,0:41:99:.:.:888,0,604,861,1020,3671	15	0	2	3
chrX	6533801	6533801	G	C	exonic	VCX3A	.	nonsynonymous SNV	VCX3A:NM_016379:exon3:c.C505G:p.Q169E,	.	.	437	999	51	0	35	86	0.0248902	.	.	1196393	not_provided|not_specified	MedGen:C3661900|MedGen:CN169374	no_assertion_criteria_provided	Benign/Likely_benign	.	.	.	.	.	.	.	.	1	T	0.416	B	0.055	B	.	.	1.000	N	1.445	L	2.35	T	-0.965	T	0.011	T	0.031	-2.954	0.001	-1.19	-1.237	-1.919	1.932	0.026	.	0.0098	0.0116556	0.0019	0.0108	0.0004	0.0031	0.0016	0.0009	0.0017	0.0009	0.0018057	47	26028	rs137964452	0.0004	0.0012	0.0005	0.0002	0.0007	0.0003	0.0003	0.0003	0.0003	0.0003	3.166e-05	0	0.0004	0.0016	0.0007	0.0004	0.0003	0.0003	0.0011	0.0030	0.0014	0	0.0026	0.0009	0.0008	0.0021	0.0019	0.0026	0	0.0004	0.0009	0.0007	0	0	0.0006	0	0	1.0	0.09989	T	1.0	0.03886	T	0.416	0.35222	B	0.055	0.25995	B	.	.	.	.	1	0.08975	N	0.11	0.08516	N	2.35	0.16217	T	-0.26	0.14193	N	0.072	0.08506	-0.9646	0.38290	T	0.011	0.03949	T	9	0.0056487024	0.00125	T	.	.	.	0.026	0.05648	.	.	0.043077524339	0.03247	8.920462994297167E-4	0.00082	0.28885402027	0.31292	0.502566754818	0.39186	T	0.001323	0.00800	T	-0.921897	0.00000	T	-1.14257	0.00010	T	0.0691892443533896	0.08538	T	0.482252	0.15733	T	0.08899886	0.20780	0.08663842	0.20087	0.08899886	0.20779	0.08663842	0.20086	-3.392	0.14949	T	.	.	0.035	0.00008	B	.;.	.;.	-0.785054	0.01137	0.053	0.10694135607750728	0.00141	0.00075	0.00520	N	AEFI	.	.	.	.	.	.	.	.	.	1.79158850418598E-6	0.01202	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.595	-1.19	0.09091	-1.991000	0.01567	-4.683000	0.02035	0.163000	0.17726	0.000000	0.06391	0.000000	0.08366	0.009000	0.08673	0.4706:0.0:0.2622:0.2672	1.932	0.03126	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	0.05263	425.74	41	chrX	6533801	.	G	C,*	425.74	.	AC=1,1;AF=0.026,0.026;AN=38;DP=3898;ExcessHet=0.1072;FS=5.835;InbreedingCoeff=-0.0769;MLEAC=1,1;MLEAF=0.026,0.026;MQ=45.60;QD=1.14;SOR=0.630	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:130,21,0:151:99:0|1:6533801_G_C:439,0,5350,445,5413,5800:6533801	17	0	1	2
chrX	6533801	6533801	G	0	exonic	VCX3A	.	.	.	.	.	437	999	51	0	35	86	0.0248902	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05263	425.74	41	chrX	6533801	.	G	C,*	425.74	.	AC=1,1;AF=0.026,0.026;AN=38;DP=3898;ExcessHet=0.1072;FS=5.835;InbreedingCoeff=-0.0769;MLEAC=1,1;MLEAF=0.026,0.026;MQ=45.60;QD=1.14;SOR=0.630	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:130,21,0:151:99:0|1:6533801_G_C:439,0,5350,445,5413,5800:6533801	17	0	1	2
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	0/2:40,0,0,0:40:19:.:.:19,225,4403,0,1734,1539,345,4423,1761,4548	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	0/2:40,0,0,0:40:19:.:.:19,225,4403,0,1734,1539,345,4423,1761,4548	2	0	1	11
chrX	6533831	6533831	C	0	exonic	VCX3A	.	.	.	.	.	520	916	66	3	17	89	0.0378151	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.125	721.15	177	chrX	6533831	.	C	G,*	721.15	.	AC=1,3;AF=0.031,0.094;AN=32;BaseQRankSum=-2.512e+00;DP=3673;ExcessHet=0.6776;FS=4.344;InbreedingCoeff=-0.1831;MLEAC=1,4;MLEAF=0.031,0.125;MQ=39.27;MQRankSum=2.06;QD=2.63;ReadPosRankSum=2.74;SOR=0.380	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:78,0,0:78:31:0|1:6533801_G_C:105,31,3470,0,3030,3038:6533801	12	0	1	5
chrX	6533983	6533983	C	G	exonic	VCX3A	.	nonsynonymous SNV	VCX3A:NM_016379:exon3:c.G323C:p.S108T,	.	.	474	1037	10	0	1	11	0.00479846	.	.	3345516	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.31	T	0.006	B	0.002	B	.	.	1.000	N	-1.245	N	2.54	T	-0.991	T	0.009	T	0.118	-4.290	0.001	-1.25	-3.647	-3.761	.	0.010	0.00182571788681	.	.	.	.	.	.	.	.	.	.	6.47e-05	10	154602	rs5934293	0.0011	0.0052	0.0014	0.0005	0.0018	0.0010	0.0010	0.0015	0.0014	0.0005	0.0004	0.0014	0.0006	0.0042	0.0007	0.0009	0.0014	0.0018	0.0034	0.0065	0.0045	8.287e-05	0.0045	0.0031	0.0030	0.0040	0.0038	0.0019	0.0018	0.0015	0.0034	0.0006	0.0055	0	0.0045	0.0072	0.0031	1.0	0.00964	T	1.0	0.01155	T	0.006	0.13644	B	0.002	0.06944	B	.	.	.	.	1	0.08975	N	-1.095	0.01012	N	2.54	0.13916	T	0.01	0.06868	N	0.044	0.04547	-0.9909	0.32373	T	0.009	0.03011	T	8	0.039732605	0.02486	T	0.001826	0.03141	T	0.010	0.01040	.	.	0.043077524339	0.03247	0.0034495201937485395	0.00321	0.244494998227	0.26952	0.474164128304	0.35253	T	0.001284	0.00766	T	-0.700758	0.00036	T	-1.04605	0.00070	T	0.0141886371471757	0.00279	T	0.183882	0.07415	T	0.13442245	0.31232	0.12706026	0.30592	0.13442245	0.31231	0.12706026	0.30591	-6.853	0.52952	T	.	.	0.066	0.02091	B	.;.;.	.;.;.	-0.678766	0.01370	0.078	0.038113215993917184	0.00001	0.00065	0.00468	N	AEFGI	.	.	.	.	.	.	.	.	.	0.182817759356452	0.17895	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.627	-1.25	0.08920	-1.883000	0.01715	-1.322000	0.05720	-1.492000	0.01043	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	.	.	.	1000	0.00083	.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	237.85	89	chrX	6533983	.	C	G	237.85	.	AC=2;AF=0.050;AN=40;BaseQRankSum=0.00;DP=1016;ExcessHet=0.1072;FS=1.451;InbreedingCoeff=-0.0649;MLEAC=2;MLEAF=0.050;MQ=34.92;MQRankSum=0.079;QD=3.26;ReadPosRankSum=0.039;SOR=1.092	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:25,3:28:51:0|1:6533983_C_G:51,0,1041:6533983	18	0	2	1
chrX	6533984	6533984	T	C	exonic	VCX3A	.	nonsynonymous SNV	VCX3A:NM_016379:exon3:c.A322G:p.S108G,	.	.	476	1036	10	0	0	10	0.00480307	.	.	3345515	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.01	D	0.478	P	0.041	B	.	.	1.000	N	0.345	N	2.17	T	-1.025	T	0.023	T	0.162	0.903	8.674	0.627	0.449	-0.055	.	0.026	0.00232243021554	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1253466082	0.0011	0.0052	0.0014	0.0004	0.0019	0.0010	0.0010	0.0015	0.0014	0.0005	0.0004	0.0016	0.0006	0.0043	0.0004	0.0009	0.0014	0.0019	0.0035	0.0067	0.0047	8.401e-05	0.0046	0.0032	0.0031	0.0041	0.0039	0.0019	0.0018	0.0014	0.0039	0.0006	0.0054	0	0.0046	0.0073	0.0031	0.064	0.63226	T	0.215	0.72224	T	0.478	0.36706	P	0.041	0.23986	B	.	.	.	.	1	0.08975	N	1.245	0.31408	L	2.17	0.19020	T	-1.63	0.42384	N	0.035	0.04547	-1.0248	0.22148	T	0.023	0.09923	T	8	0.08369303	0.13950	T	0.002322	0.04479	T	0.026	0.05648	.	.	0.043077524339	0.03247	0.0030667818329098142	0.00285	0.245572161414	0.27083	0.443225979805	0.31018	T	0.010668	0.09610	T	-0.533123	0.00368	T	-0.805928	0.01759	T	0.0407642605737014	0.03829	T	0.419858	0.23413	T	0.12491072	0.29294	0.1832876	0.41309	0.12491072	0.29294	0.1832876	0.41309	-8.754	0.66099	D	.	.	0.119	0.24430	B	.;.;.	.;.;.	1.560404	0.19987	14.54	0.66433449472753969	0.08058	0.00298	0.01590	N	AEFGI	.	.	.	.	.	.	.	.	.	6.46148542054851E-6	0.01202	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.627	0.627	0.16848	0.114000	0.15353	-1.444000	0.05425	0.188000	0.17839	0.000000	0.06391	0.000000	0.08366	0.006000	0.07323	.	.	.	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	0.05	237.85	89	chrX	6533984	.	T	C	237.85	.	AC=2;AF=0.050;AN=40;BaseQRankSum=-1.815e+00;DP=1013;ExcessHet=0.1072;FS=1.451;InbreedingCoeff=-0.0649;MLEAC=2;MLEAF=0.050;MQ=35.00;MQRankSum=0.079;QD=3.26;ReadPosRankSum=0.111;SOR=1.092	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:25,3:28:51:0|1:6533983_C_G:51,0,1041:6533983	18	0	2	1
chrX	7843513	7843513	A	G	exonic	VCX	.	nonsynonymous SNV	VCX:NM_013452:exon3:c.A118G:p.K40E,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.006	B	0.003	B	.	.	1.000	N	1.7	L	1.58	T	-0.936	T	0.046	T	0.071	0.015	4.093	-0.333	-1.042	0.353	.	0.051	.	.	.	0.0099	0.0032	0.0254	0.0281	0.0065	0.0080	0.0312	0.0030	0.0001153	3	26028	rs200750165	0.0022	0.0032	0.0032	6.021e-05	0.0071	0.0021	0.0021	0.0063	0.0060	0.0007	0.0021	0.0020	0.0071	0.0017	0.0011	0.0022	0.0017	0.0010	0.0019	0.0023	0.0024	0.0001	0.0060	0.0017	0.0016	0.0038	0.0031	0.0006	0	0.0011	0.0028	0.0060	0.0010	0	0.0027	0.0017	0.0012	0.111	0.29688	T	0.844	0.30534	T	0.006	0.13644	B	0.003	0.08700	B	.	.	.	.	1	0.08975	N	1.385	0.34509	L	1.58	0.29085	T	-0.3	0.13805	N	0.07	0.04790	-0.9365	0.43164	T	0.046	0.19680	T	8	0.005648434	0.00125	T	.	.	.	0.051	0.14325	.	.	0.043077524339	0.03247	0.01039131964325419	0.01000	0.495246887071	0.48067	0.565081715584	0.47984	T	0.013618	0.11743	T	-0.845237	0.00003	T	-0.977506	0.00187	T	5.33456368430052e-05	0.00000	T	0.420658	0.11777	T	0.113093816	0.26713	0.12959528	0.31158	0.113093816	0.26713	0.12959528	0.31157	-4.28	0.27896	T	.	.	0.177	0.38711	B	.;.;.	.;.;.	0.607878	0.09765	6.530	0.38657164627982821	0.02620	0.01020	0.03837	N	AEFI	.	.	.	.	.	.	.	.	.	2.26039914298939E-5	0.03498	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.167	-0.333	0.12042	-0.306000	0.08217	-2.752000	0.03398	-0.509000	0.05002	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	.	.	.	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	0.02381	136.0	43	chrX	7843513	.	A	G	136.0	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.663e+00;DP=662;ExcessHet=0.0000;FS=1.123;InbreedingCoeff=-0.0259;MLEAC=1;MLEAF=0.024;MQ=29.04;MQRankSum=0.203;QD=1.53;ReadPosRankSum=-1.071e+00;SOR=0.956	GT:AD:DP:GQ:PL	0/1:75,14:89:99:150,0,2040	20	0	1	0
chrX	8170334	8170334	T	C	exonic	VCX2	.	nonsynonymous SNV	VCX2:NM_016378:exon3:c.A118G:p.K40E,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.17	T	0.005	B	0.001	B	.	.	1.000	N	1.895	L	1.58	T	-0.996	T	0.060	T	0.265	-0.215	2.959	-0.274	-1.157	-0.283	.	0.040	0.00114608402726	.	.	0.0039	0.0018	0.0044	0	0	0.0050	0	0.0026	0.000461	12	26028	rs376363003	0.0034	0.0038	0.0036	0.0026	0.0044	0.0033	0.0032	0.0038	0.0035	0.0014	0.0044	0.0039	0.0035	0.0028	0.0004	0.0035	0.0026	0.0023	0.0023	0.0028	0.0025	0	0.0067	0.0019	0.0018	0.0035	0.0026	0.0006	0	0.0049	0.0028	0.0067	0.0019	0	0.0023	0.0054	0.0040	0.147	0.24955	T	0.156	0.31833	T	0.005	0.12996	B	0.001	0.04355	B	.	.	.	.	1	0.08975	N	1.365	0.34158	L	1.58	0.29085	T	-2.36	0.52128	N	0.129	0.12341	-0.9956	0.31136	T	0.060	0.25018	T	8	0.0061736703	0.00139	T	0.001146	0.01410	T	0.040	0.10527	.	.	0.101711395817	0.09552	0.002899711642800959	0.00269	0.00870104335735	0.00791	0.53577208519	0.43848	T	0.01114	0.09975	T	-0.755458	0.00016	T	-0.853794	0.00913	T	0.00215455332106097	0.00022	T	0.432757	0.11777	T	0.17266044	0.37970	0.15256119	0.35887	0.17266044	0.37969	0.15256119	0.35886	-4.132	0.25760	T	.	.	0.183	0.39731	B	.	.	0.535751	0.09045	5.826	0.40039426821849544	0.02801	0.00333	0.01736	N	AEFI	.	.	.	.	.	.	.	.	.	3.14777490127949E-5	0.03775	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.137	-0.274	0.12272	-2.378000	0.01147	-6.687000	0.01332	-0.350000	0.05574	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	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	0.02381	170.19	14	chrX	8170334	.	T	C	170.19	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-9.900e-01;DP=319;ExcessHet=0.0000;FS=2.580;InbreedingCoeff=-0.0375;MLEAC=1;MLEAF=0.024;MQ=33.15;MQRankSum=2.69;QD=5.87;ReadPosRankSum=-9.280e-01;SOR=1.981	GT:AD:DP:GQ:PL	0/1:21,8:29:99:184,0,590	20	0	1	0
chrX	8465760	8465760	A	G	exonic	VCX3B	.	nonsynonymous SNV	VCX3B:NM_001001888:exon3:c.A118G:p.K40E,	.	.	859	658	4	1	0	6	0.00453858	.	.	2297121	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	1	T	0.018	B	0.002	B	.	.	1.000	N	0.975	L	1.58	T	-0.974	T	0.037	T	0.127	-0.498	1.715	-0.761	-0.599	-1.312	3.970	0.021	.	.	.	0.0099	0	0	0	.	0.0217	.	0	3.84e-05	1	26028	rs199960128	0.0013	0.0025	0.0017	0.0002	0.0042	0.0012	0.0012	0.0036	0.0034	0.0005	0.0010	0.0012	0.0042	0.0011	0	0.0011	0.0009	0.0035	0.0012	0.0015	0.0014	0	0.0036	0.0010	0.0009	0.0010	0.0009	0.0010	0	0.0011	0.0017	0.0010	0.0009	0	0.0013	0.0010	0.0036	0.101	0.31532	T	0.229	0.30631	T	0.018	0.17786	B	0.002	0.06944	B	.	.	.	.	1	0.08975	N	1.845	0.48678	L	1.58	0.29085	T	-0.44	0.14978	N	0.102	0.12770	-0.9735	0.36453	T	0.037	0.15770	T	9	0.0058926344	0.00132	T	.	.	.	0.021	0.04004	.	.	0.132336055621	0.12781	0.013586475059430964	0.01316	1.2521105706	0.81831	0.584758996964	0.50756	T	0.011933	0.10575	T	-0.784304	0.00010	T	-0.900213	0.00501	T	0.00189140629436905	0.00019	T	0.432757	0.11777	T	0.064872876	0.13809	0.073000275	0.15813	0.064872876	0.13808	0.073000275	0.15812	-4.19	0.26607	T	.	.	0.191	0.40952	B	.;.;.;.	.;.;.;.	0.564418	0.09329	6.111	0.26912467826038572	0.01311	0.00141	0.00861	N	AEFI	.	.	.	.	.	.	.	.	.	1.77191829770265E-5	0.02871	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.381	-0.761	0.10482	-0.438000	0.06975	-1.718000	0.04855	-0.570000	0.04786	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.7146:0.0:0.2854:0.0	3.970	0.08943	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	0.025	259.81	34	chrX	8465760	.	A	G	259.81	.	AC=1;AF=0.025;AN=40;BaseQRankSum=-4.135e+00;DP=464;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0626;MLEAC=1;MLEAF=0.025;MQ=26.82;MQRankSum=-2.084e+00;QD=8.96;ReadPosRankSum=0.722;SOR=0.859	GT:AD:DP:GQ:PL	0/1:15,14:29:99:273,0,392	19	0	1	1
chrX	8466215	8466215	A	0	exonic	VCX3B	.	.	.	.	.	689	655	115	37	26	215	0.126084	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	1398.21	85	chrX	8466215	.	A	G,*	1398.21	.	AC=5,1;AF=0.167,0.033;AN=30;BaseQRankSum=2.45;DP=1427;ExcessHet=0.0018;FS=4.360;InbreedingCoeff=0.3447;MLEAC=6,1;MLEAF=0.200,0.033;MQ=41.78;MQRankSum=0.800;QD=4.48;ReadPosRankSum=-5.270e-01;SOR=0.973	GT:AD:DP:GQ:PL	0/1:147,47,0:194:99:1032,0,3988,1472,4129,5601	11	2	1	6
chrX	8466326	8466326	C	0	exonic	VCX3B	.	.	.	.	.	615	751	69	79	8	235	0.13129	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	8691.77	20	chrX	8466326	.	C	T,*	8691.77	.	AC=2,1;AF=0.056,0.028;AN=36;BaseQRankSum=0.010;DP=2396;ExcessHet=0.3672;FS=1.792;InbreedingCoeff=0.1135;MLEAC=2,1;MLEAF=0.056,0.028;MQ=52.92;MQRankSum=-3.640e-01;QD=8.65;ReadPosRankSum=3.18;SOR=0.847	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:223,162,0:385:99:0|1:8466326_C_T:5198,0,6681,5836,7167,13004:8466326	15	0	2	3
chrX	10134514	10134514	G	A	exonic	WWC3	.	nonsynonymous SNV	WWC3:NM_015691:exon19:c.G2681A:p.R894Q,	.	.	436	1083	2	1	0	4	0.00184332	.	.	706028	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	.	.	0.922	P	0.298	B	0.000	D	0.934	D	1.71	L	1.01	T	-0.949	T	0.085	T	0.247	2.585	14.60	5.71	2.419	4.920	18.936	0.144	.	0.0045	0.0013245	0.0071	0.0009	0.0003	0	0.0172	0.0108	0.0032	0.0010	0.0066364	1026	154602	rs140383059	0.0071	0.0071	0.0071	0.0070	0.0070	0.0069	0.0069	0.0069	0.0068	0.0010	0.0006	0.0366	6.621e-05	0.0172	0.0012	0.0070	0.0074	0.0012	0.0054	0.0055	0.0054	0.0054	0.0065	0.0051	0.0049	0.0060	0.0057	0.0008	0.0677	0.0009	0.0305	0	0.0149	0	0.0065	0.0026	0.0007	0.26	0.16574	T	0.396	0.15206	T	0.922	0.51142	P	0.298	0.40966	B	0.000002	0.62929	D	0.105212	0.934088	0.37076	D	1.75	0.45442	L	1.01	0.41058	T	-1.31	0.32791	N	0.1	0.08227	-0.9488	0.41177	T	0.085	0.33241	T	9	0.004641205	0.00097	T	.	.	.	0.144	0.38394	.	.	0.258436476835	0.25460	0.18088037562314274	0.18007	0.978355093031	0.73635	0.386515796185	0.23177	T	0.00376	0.03171	T	-0.577929	0.00198	T	-0.59497	0.13239	T	0.0434861332178116	0.04326	T	0.732627	0.34815	T	0.12193453	0.28664	0.24543169	0.50031	0.12193453	0.28663	0.24543169	0.50030	-7.102	0.54775	T	.	.	0.094	0.14385	B	.	.	3.328945	0.45818	22.2	0.99112195624981159	0.52750	0.91537	0.53738	D	AEFDBI	.	.	.	.	.	.	.	.	.	0.999999999921419	0.74766	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.71	5.71	0.89031	6.289000	0.72700	3.807000	0.39893	0.672000	0.70159	1.000000	0.71638	1.000000	0.68203	0.931000	0.46843	0.0:0.0:1.0:0.0	18.936	0.92558	728	0.54609	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	2725.98	33	chrX	10134514	.	G	A	2725.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.43;DP=884;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.70;ReadPosRankSum=0.901;SOR=0.682	GT:AD:DP:GQ:PL	0/1:89,110:199:99:2740,0,1931	20	0	1	0
chrX	10136709	10136709	C	A	exonic	WWC3	.	nonsynonymous SNV	WWC3:NM_015691:exon20:c.C2840A:p.T947N,	.	.	439	1078	4	1	0	6	0.00277521	.	.	706029	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	.	.	1.0	D	0.99	D	0.000	D	1.000	D	2.32	M	0.97	T	-0.655	T	0.215	T	0.519	4.259	22.2	5.75	2.432	4.695	18.985	0.160	.	0.0049	0.0013245	0.0073	0.0011	0.0005	0	0.0168	0.0112	0.0048	0.0010	0.0069598	1076	154602	rs55730294	0.0075	0.0075	0.0076	0.0074	0.0075	0.0074	0.0073	0.0074	0.0073	0.0010	0.0009	0.0381	3.311e-05	0.0173	0.0019	0.0075	0.0079	0.0012	0.0057	0.0059	0.0058	0.0055	0.0071	0.0053	0.0052	0.0065	0.0063	0.0009	0.0633	0.0015	0.0303	0	0.0150	0	0.0071	0.0020	0.0008	0.003	0.68238	D	0.005	0.72224	D	1.0	0.90584	D	0.99	0.78936	D	0.000000	0.84330	D	0.044407	0.999991	0.58761	D	2.555	0.74557	M	0.97	0.42502	T	-1.66	0.39692	N	0.492	0.52563	-0.6549	0.62499	T	0.215	0.57692	T	9	0.008772254	0.00199	T	.	.	.	0.160	0.41473	.	.	0.228066490088	0.22430	0.679140680839393	0.67853	1.14735516816	0.79101	0.735113859177	0.72254	T	0.076465	0.35426	T	-0.439609	0.01300	T	-0.396283	0.33817	T	0.0133520005779331	0.00241	T	0.916808	0.70203	D	0.6872154	0.77360	0.6900901	0.81765	0.6872154	0.77362	0.6900901	0.81766	-9.46	0.70610	D	.	.	0.825	0.78481	P	.	.	4.233589	0.64133	24.7	0.99416000710559371	0.63501	0.96174	0.67873	D	AEFDGBI	.	.	.	.	.	.	.	.	.	0.999999999537906	0.74766	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.75	5.75	0.90390	4.602000	0.60805	5.796000	0.49904	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.991000	0.66497	0.0:1.0:0.0:0.0	18.985	0.92743	728	0.54609	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	1320.98	37	chrX	10136709	.	C	A	1320.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.699;DP=847;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.70;ReadPosRankSum=0.465;SOR=0.619	GT:AD:DP:GQ:PL	0/1:52,52:104:99:1335,0,1262	20	0	1	0
chrX	24179589	24179589	T	A	exonic	ZFX	.	nonsynonymous SNV	ZFX:NM_001178084:exon3:c.T465A:p.H155Q	.	.	1	1492	23	6	0	35	0.0115932	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.968	D	0.978	D	0.000	D	1.000	D	1.665	L	0.98	T	-0.934	T	0.177	T	0.532	3.479	17.80	0.040	-0.089	0.293	10.739	0.126	.	0.0008	0.00291391	0.0017	0.0001	0.0005	0.0002	0	0.0011	0.0032	0.0088	0.0017205	266	154602	rs149552647	0.0010	0.0010	0.0008	0.0015	0.0081	0.0010	0.0010	0.0075	0.0072	0	0.0011	5.159e-05	0	2.467e-05	0.0068	0.0007	0.0015	0.0081	0.0013	0.0013	0.0013	0.0013	0.0099	0.0011	0.0011	0.0070	0.0060	0	0.0585	0.0018	0	0	0	0.0092	0.0011	0.0013	0.0099	0.15	0.24661	T	0.083	0.41405	T	0.968	0.56581	D	0.978	0.74104	D	0.000001	0.62929	D	0.000000	1	0.81001	D	2.045	0.56016	M	0.98	0.42122	T	-1.46	0.35792	N	0.233	0.44090	-0.9337	0.43590	T	0.177	0.52225	T	9	0.006497711	0.00147	T	.	.	.	0.126	0.34673	0.679	0.81691	0.373580267183	0.36973	0.6945515287734886	0.69396	0.894647151709	0.70397	0.66638302803	0.62323	T	0.240036	0.60828	T	-0.515621	0.00466	T	-0.507457	0.21577	T	0.049760384138688	0.05459	T	0.666633	0.43272	T	0.36636198	0.58315	0.27621913	0.53565	0.36636198	0.58315	0.27621913	0.53564	-4.367	0.29106	T	.	.	0.107	0.58233	B	.;.;.;.	.;.;.;.	1.961942	0.24919	16.57	0.98773548947936285	0.46017	0.86994	0.46404	D	AEFGBI	.	.	.	.	.	.	.	.	.	0.999851452123392	0.44174	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.75	0.040	0.13526	0.296000	0.18839	-0.519000	0.08701	0.665000	0.62972	0.999000	0.42656	0.098000	0.22634	1.000000	0.97212	0.0:0.3801:0.0:0.6199	10.739	0.45344	111	0.95468	.;Transcriptional activator, Zfx / Zfy domain;Transcriptional activator, Zfx / Zfy domain;Transcriptional activator, Zfx / Zfy 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	12847.11	34	chrX	24179589	.	T	A	12847.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=4.29;DP=1594;ExcessHet=0.1072;FS=1.736;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=1.01;QD=14.27;ReadPosRankSum=1.07;SOR=0.571	GT:AD:DP:GQ:PL	0/1:239,248:487:99:7088,0,6747	19	0	2	0
chrX	24363316	24363316	C	G	exonic	SUPT20HL1	.	nonsynonymous SNV	SUPT20HL1:NM_001136234:exon1:c.C634G:p.Q212E,	.	.	433	1063	15	11	0	37	0.0171059	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0026	0.00264901	0.0030	0.0003	0.0009	0.0002	0.0004	0.0028	0.0016	0.0114	0.0028331	438	154602	rs1207579	0.0038	0.0024	0.0030	0.0051	0.0124	0.0036	0.0035	0.0115	0.0111	0.0001	0.0010	0.0041	0	0.0005	0.0061	0.0029	0.0042	0.0124	0.0022	0.0022	0.0022	0.0022	0.0141	0.0020	0.0019	0.0105	0.0093	0.0003	0	0.0016	0.0034	0	0.0005	0.0229	0.0030	0.0039	0.0141	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	5661.11	113	chrX	24363316	.	C	G	5661.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.056;DP=1779;ExcessHet=0.1072;FS=2.445;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=59.00;MQRankSum=-4.130e+00;QD=13.20;ReadPosRankSum=1.16;SOR=0.884	GT:AD:DP:GQ:PL	0/1:105,133:238:99:3561,0,2879	19	0	2	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	0/3:12,0,1,6,0,0,0:19:79:79,237,1975,248,1721,2712,0,644,1705,1827,320,1825,2714,1765,2812,320,1825,2714,1765,2812,2812,320,1825,2714,1765,2812,2812,2812	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	0/3:12,0,1,6,0,0,0:19:79:79,237,1975,248,1721,2712,0,644,1705,1827,320,1825,2714,1765,2812,320,1825,2714,1765,2812,2812,320,1825,2714,1765,2812,2812,2812	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	0/3:12,0,1,6,0,0,0:19:79:79,237,1975,248,1721,2712,0,644,1705,1827,320,1825,2714,1765,2812,320,1825,2714,1765,2812,2812,320,1825,2714,1765,2812,2812,2812	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	0/3:12,0,1,6,0,0,0:19:79:79,237,1975,248,1721,2712,0,644,1705,1827,320,1825,2714,1765,2812,320,1825,2714,1765,2812,2812,320,1825,2714,1765,2812,2812,2812	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	0/3:12,0,1,6,0,0,0:19:79:79,237,1975,248,1721,2712,0,644,1705,1827,320,1825,2714,1765,2812,320,1825,2714,1765,2812,2812,320,1825,2714,1765,2812,2812,2812	8	0	1	0
chrX	24364309	24364312	GCTC	0	exonic	SUPT20HL1	.	.	.	.	.	367	1045	21	4	85	114	0.0136857	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	232.24	99	chrX	24364309	.	GCTC	G,*	232.24	.	AC=2,1;AF=0.048,0.024;AN=42;BaseQRankSum=1.78;DP=1692;ExcessHet=0.3300;FS=2.678;InbreedingCoeff=-0.0769;MLEAC=2,1;MLEAF=0.048,0.024;MQ=59.50;MQRankSum=0.00;QD=1.29;ReadPosRankSum=4.11;SOR=0.435	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:55,10,0:65:99:0|1:24364309_GCTC_G:169,0,2194,429,2188,2953:24364309	18	0	2	0
chrX	24364310	24364336	CTCCTGCTCCTGCTCTAGCTGCTGCTG	0	exonic	SUPT20HL1	.	.	.	.	.	0	189	21	5	11	42	0.0757946	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	302.11	99	chrX	24364310	.	CTCCTGCTCCTGCTCTAGCTGCTGCTG	*,C	302.11	.	AC=2,1;AF=0.048,0.024;AN=42;BaseQRankSum=-2.399e+00;DP=1670;ExcessHet=0.3300;FS=3.618;InbreedingCoeff=-0.0769;MLEAC=2,1;MLEAF=0.048,0.024;MQ=60.00;MQRankSum=0.00;QD=1.64;ReadPosRankSum=1.75;SOR=0.430	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:55,10,0:65:99:0|1:24364309_GCTC_G:169,0,2194,429,2188,2953:24364309	18	0	2	0
chrX	24364312	24364336	CCTGCTCCTGCTCTAGCTGCTGCTG	0	exonic	SUPT20HL1	.	.	.	.	.	385	1083	16	7	31	61	0.0136612	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	1192.61	92	chrX	24364312	.	CCTGCTCCTGCTCTAGCTGCTGCTG	C,*	1192.61	.	AC=2,3;AF=0.067,0.100;AN=30;DP=1677;ExcessHet=0.0454;FS=0.000;InbreedingCoeff=0.1390;MLEAC=3,4;MLEAF=0.100,0.133;MQ=59.73;MQRankSum=0.00;QD=7.18;ReadPosRankSum=1.61;SOR=0.661	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:27,0,10:37:99:.:.:808,570,4116,0,1263,1054	11	1	0	6
chrX	24364318	24364336	CCTGCTCTAGCTGCTGCTG	0	exonic	SUPT20HL1	.	.	.	.	.	394	1076	19	5	28	57	0.0132967	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1389	577.6	63	chrX	24364318	.	CCTGCTCTAGCTGCTGCTG	*,GCTGCTCTAGCTGCTGCTG,C	577.6	.	AC=3,1,1;AF=0.083,0.028,0.028;AN=36;BaseQRankSum=2.10;DP=1497;ExcessHet=0.0454;FS=0.609;InbreedingCoeff=0.2571;MLEAC=3,1,1;MLEAF=0.083,0.028,0.028;MQ=59.49;MQRankSum=0.00;QD=3.68;ReadPosRankSum=3.24;SOR=0.604	GT:AD:DP:GQ:PGT:PID:PL:PS	0|3:27,0,0,10:37:99:0|1:24364309_GCTC_G:710,341,2346,728,2052,2804,0,1139,1863,2290:24364309	14	1	1	3
chrX	24364318	24364318	C	G	exonic	SUPT20HL1	.	nonsynonymous SNV	SUPT20HL1:NM_001136234:exon1:c.C1636G:p.P546A,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0015	0.0020	0.0043	0	0.0192	0.0019	0	0.0008	3.84e-05	1	26028	rs768988575	0.0047	0.0046	0.0067	2.072e-05	0.0056	0.0046	0.0045	0.0055	0.0054	0.0023	0.0002	0.0006	0.0011	0.0002	0.0011	0.0056	0.0040	0.0035	2.646e-05	0.0003	3.634e-05	0	6.576e-05	4.39e-06	1.64e-06	.	.	6.576e-05	0	0	0	0	0	0	2.442e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.1389	577.6	63	chrX	24364318	.	CCTGCTCTAGCTGCTGCTG	*,GCTGCTCTAGCTGCTGCTG,C	577.6	.	AC=3,1,1;AF=0.083,0.028,0.028;AN=36;BaseQRankSum=2.10;DP=1497;ExcessHet=0.0454;FS=0.609;InbreedingCoeff=0.2571;MLEAC=3,1,1;MLEAF=0.083,0.028,0.028;MQ=59.49;MQRankSum=0.00;QD=3.68;ReadPosRankSum=3.24;SOR=0.604	GT:AD:DP:GQ:PGT:PID:PL:PS	0|3:27,0,0,10:37:99:0|1:24364309_GCTC_G:710,341,2346,728,2052,2804,0,1139,1863,2290:24364309	14	1	1	3
chrX	24364323	24364326	TCTA	0	exonic	SUPT20HL1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1316	236.33	63	chrX	24364323	.	TCTA	*,T	236.33	.	AC=4,1;AF=0.105,0.026;AN=38;BaseQRankSum=1.53;DP=1488;ExcessHet=0.0454;FS=0.604;InbreedingCoeff=0.3023;MLEAC=4,1;MLEAF=0.105,0.026;MQ=59.05;MQRankSum=-5.358e+00;QD=1.50;ReadPosRankSum=2.58;SOR=0.624	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:27,10,0:37:99:0|1:24364309_GCTC_G:710,0,2290,728,1863,2804:24364309	15	1	2	2
chrX	24364324	24364326	CTA	-	exonic	SUPT20HL1	.	nonframeshift deletion	SUPT20HL1:NM_001136234:exon1:c.1642_1644del:p.L548del,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0122	.	.	.	.	.	.	.	.	.	.	.	.	rs1181749854	7.466e-06	3.364e-05	8.519e-06	4.995e-06	9.671e-06	2.19e-06	1.59e-06	2.83e-06	2.06e-06	0	0	0	0	0	0	9.671e-06	0	0	4.925e-05	0.0002	5.171e-05	4.309e-05	0.0001	1.65e-05	9.75e-06	7.6e-06	2.84e-06	6.052e-05	0	0.0001	0	0	0	0	4.586e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1316	236.33	63	chrX	24364323	.	TCTA	*,T	236.33	.	AC=4,1;AF=0.105,0.026;AN=38;BaseQRankSum=1.53;DP=1488;ExcessHet=0.0454;FS=0.604;InbreedingCoeff=0.3023;MLEAC=4,1;MLEAF=0.105,0.026;MQ=59.05;MQRankSum=-5.358e+00;QD=1.50;ReadPosRankSum=2.58;SOR=0.624	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:27,10,0:37:99:0|1:24364309_GCTC_G:710,0,2290,728,1863,2804:24364309	15	1	2	2
chrX	24364336	24364336	G	0	exonic	SUPT20HL1	.	.	.	.	.	397	1074	7	2	42	53	0.00509495	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1316	620.36	63	chrX	24364336	.	G	*,C	620.36	.	AC=4,1;AF=0.105,0.026;AN=38;BaseQRankSum=-2.180e+00;DP=1411;ExcessHet=0.0409;FS=0.000;InbreedingCoeff=0.2222;MLEAC=4,1;MLEAF=0.105,0.026;MQ=59.45;MQRankSum=0.00;QD=3.74;ReadPosRankSum=3.60;SOR=0.661	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:27,10,0:37:99:.:.:711,0,2258,324,1121,2131	15	1	2	2
chrX	27747292	27747300	GAGGAGGAG	-	exonic	DCAF8L2	.	nonframeshift deletion	DCAF8L2:NM_001353450:exon5:c.397_405del:p.E145_E147del	.	.	532	397	66	140	387	733	0.303509	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4524	18919.93	46	chrX	27747282	.	AGAGGAGGAGGAGGAGGAG	AGAGGAGGAG,AGAGGAGGAGGAG,A,AGAGGAGGAGGAGGAG,AGAGGAGGAGGAGGAGGAGGAGGAG,AGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAG	18919.93	.	AC=13,5,1,3,1,1;AF=0.310,0.119,0.024,0.071,0.024,0.024;AN=42;BaseQRankSum=0.505;DP=1083;ExcessHet=0.0008;FS=0.759;InbreedingCoeff=0.6111;MLEAC=13,5,1,3,1,1;MLEAF=0.310,0.119,0.024,0.071,0.024,0.024;MQ=59.99;MQRankSum=0.00;QD=26.27;ReadPosRankSum=0.980;SOR=0.634	GT:AD:DP:GQ:PL	1/2:0,24,27,0,0,0,0:51:99:2039,1022,1009,960,0,856,2021,1059,955,2032,2021,1059,955,2032,2032,2021,1059,955,2032,2032,2032,2021,1059,955,2032,2032,2032,2032	7	4	1	0
chrX	27747295	27747300	GAGGAG	-	exonic	DCAF8L2	.	nonframeshift deletion	DCAF8L2:NM_001353450:exon5:c.400_405del:p.E146_E147del	.	.	532	397	66	140	387	733	0.303509	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4524	18919.93	46	chrX	27747282	.	AGAGGAGGAGGAGGAGGAG	AGAGGAGGAG,AGAGGAGGAGGAG,A,AGAGGAGGAGGAGGAG,AGAGGAGGAGGAGGAGGAGGAGGAG,AGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAG	18919.93	.	AC=13,5,1,3,1,1;AF=0.310,0.119,0.024,0.071,0.024,0.024;AN=42;BaseQRankSum=0.505;DP=1083;ExcessHet=0.0008;FS=0.759;InbreedingCoeff=0.6111;MLEAC=13,5,1,3,1,1;MLEAF=0.310,0.119,0.024,0.071,0.024,0.024;MQ=59.99;MQRankSum=0.00;QD=26.27;ReadPosRankSum=0.980;SOR=0.634	GT:AD:DP:GQ:PL	1/2:0,24,27,0,0,0,0:51:99:2039,1022,1009,960,0,856,2021,1059,955,2032,2021,1059,955,2032,2032,2021,1059,955,2032,2032,2032,2021,1059,955,2032,2032,2032,2032	7	4	1	0
chrX	27747298	27747300	GAG	-	exonic	DCAF8L2	.	nonframeshift deletion	DCAF8L2:NM_001353450:exon5:c.403_405del:p.E147del	.	.	532	397	66	140	387	733	0.303509	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4524	18919.93	46	chrX	27747282	.	AGAGGAGGAGGAGGAGGAG	AGAGGAGGAG,AGAGGAGGAGGAG,A,AGAGGAGGAGGAGGAG,AGAGGAGGAGGAGGAGGAGGAGGAG,AGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAG	18919.93	.	AC=13,5,1,3,1,1;AF=0.310,0.119,0.024,0.071,0.024,0.024;AN=42;BaseQRankSum=0.505;DP=1083;ExcessHet=0.0008;FS=0.759;InbreedingCoeff=0.6111;MLEAC=13,5,1,3,1,1;MLEAF=0.310,0.119,0.024,0.071,0.024,0.024;MQ=59.99;MQRankSum=0.00;QD=26.27;ReadPosRankSum=0.980;SOR=0.634	GT:AD:DP:GQ:PL	1/2:0,24,27,0,0,0,0:51:99:2039,1022,1009,960,0,856,2021,1059,955,2032,2021,1059,955,2032,2032,2021,1059,955,2032,2032,2032,2021,1059,955,2032,2032,2032,2032	7	4	1	0
chrX	27747300	27747300	-	GAGGAG	exonic	DCAF8L2	.	nonframeshift insertion	DCAF8L2:NM_001353450:exon5:c.405_406insGAGGAG:p.E147_Q148insEE	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4524	18919.93	46	chrX	27747282	.	AGAGGAGGAGGAGGAGGAG	AGAGGAGGAG,AGAGGAGGAGGAG,A,AGAGGAGGAGGAGGAG,AGAGGAGGAGGAGGAGGAGGAGGAG,AGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAG	18919.93	.	AC=13,5,1,3,1,1;AF=0.310,0.119,0.024,0.071,0.024,0.024;AN=42;BaseQRankSum=0.505;DP=1083;ExcessHet=0.0008;FS=0.759;InbreedingCoeff=0.6111;MLEAC=13,5,1,3,1,1;MLEAF=0.310,0.119,0.024,0.071,0.024,0.024;MQ=59.99;MQRankSum=0.00;QD=26.27;ReadPosRankSum=0.980;SOR=0.634	GT:AD:DP:GQ:PL	1/2:0,24,27,0,0,0,0:51:99:2039,1022,1009,960,0,856,2021,1059,955,2032,2021,1059,955,2032,2032,2021,1059,955,2032,2032,2032,2021,1059,955,2032,2032,2032,2032	7	4	1	0
chrX	27747300	27747300	-	GAGGAGGAGGAGGAGGAG	exonic	DCAF8L2	.	nonframeshift insertion	DCAF8L2:NM_001353450:exon5:c.405_406insGAGGAGGAGGAGGAGGAG:p.E147_Q148insEEEEEE	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4524	18919.93	46	chrX	27747282	.	AGAGGAGGAGGAGGAGGAG	AGAGGAGGAG,AGAGGAGGAGGAG,A,AGAGGAGGAGGAGGAG,AGAGGAGGAGGAGGAGGAGGAGGAG,AGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAG	18919.93	.	AC=13,5,1,3,1,1;AF=0.310,0.119,0.024,0.071,0.024,0.024;AN=42;BaseQRankSum=0.505;DP=1083;ExcessHet=0.0008;FS=0.759;InbreedingCoeff=0.6111;MLEAC=13,5,1,3,1,1;MLEAF=0.310,0.119,0.024,0.071,0.024,0.024;MQ=59.99;MQRankSum=0.00;QD=26.27;ReadPosRankSum=0.980;SOR=0.634	GT:AD:DP:GQ:PL	1/2:0,24,27,0,0,0,0:51:99:2039,1022,1009,960,0,856,2021,1059,955,2032,2021,1059,955,2032,2032,2021,1059,955,2032,2032,2032,2021,1059,955,2032,2032,2032,2032	7	4	1	0
chrX	34943399	34943399	C	T	exonic	FAM47B	.	nonsynonymous SNV	FAM47B:NM_152631:exon1:c.C568T:p.R190W,	.	.	436	1084	1	1	0	3	0.00138185	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.031	B	0.004	B	.	.	1.000	N	0.865	L	1.99	T	-1.000	T	0.030	T	0.223	0.473	6.570	-1.01	-0.443	0.137	2.354	0.039	0.00168380542598	.	.	.	.	.	.	.	.	.	.	.	.	.	rs898061216	6.374e-06	6.374e-06	5.445e-06	8.252e-06	0.0002	2.65e-06	1.7e-06	1.11e-06	7.5e-07	0	0	0	3.311e-05	0	0.0002	4.75e-06	2.169e-05	0	3.632e-05	4.362e-05	2.574e-05	6.167e-05	9.938e-05	1.148e-05	6.72e-06	2.632e-05	1.429e-05	9.938e-05	0	9.568e-05	0	0	0	0	0	0	0	0.005	0.63226	D	0.086	0.40909	T	0.031	0.20130	B	0.004	0.10090	B	.	.	.	.	1	0.08975	N	0.935	0.23595	L	1.99	0.21666	T	-3.53	0.68532	D	0.164	0.17278	-1.0005	0.29774	T	0.030	0.12804	T	9	0.070304126	0.10208	T	0.001684	0.02779	T	0.039	0.10176	0.176	0.08257	0.0401082797425	0.02173	0.08501892401784913	0.08435	0.205576144045	0.22979	0.25547170639	0.04366	T	0.009551	0.08688	T	-0.527042	0.00400	T	-0.8025	0.01840	T	0.041731003701241	0.04006	T	0.483452	0.14697	T	0.15806131	0.35581	0.13685064	0.32727	0.15806131	0.35581	0.13685064	0.32726	-6.186	0.47809	T	.	.	0.159	0.35247	B	.	.	0.953819	0.13303	9.802	0.97431609340445213	0.33931	0.01399	0.04744	N	AEFBI	.	.	.	.	.	.	.	.	.	4.05353629573718E-4	0.06860	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.602	-1.01	0.09650	-0.447000	0.06901	-0.283000	0.10254	0.328000	0.19510	0.004000	0.16614	0.000000	0.08366	0.002000	0.04165	0.3224:0.3537:0.3239:0.0	2.354	0.04028	924	0.18029	.	.	.	.	.	.	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	3103.98	35	chrX	34943399	.	C	T	3103.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.412e+00;DP=977;ExcessHet=0.0000;FS=1.129;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.85;ReadPosRankSum=1.13;SOR=0.578	GT:AD:DP:GQ:PL	0/1:103,106:209:99:3118,0,2935	20	0	1	0
chrX	35919921	35919921	G	A	exonic	CFAP47	.	nonsynonymous SNV	CFAP47:NM_001304548:exon1:c.G122A:p.R41Q	.	.	437	1078	4	3	0	10	0.00461681	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.46	T	0.985	D	0.564	P	0.000	N	0.963	N	2.32	M	2.32	T	-1.068	T	0.027	T	0.171	1.827	12.07	3.03	0.398	1.157	6.909	0.117	.	0.0072	0.00768212	0.0034	0.0167	0.0064	0	0	0.0018	0.0036	0.0002	0.002749	425	154602	rs138479255	0.0019	0.0019	0.0019	0.0018	0.0177	0.0018	0.0018	0.0163	0.0158	0.0177	0.0075	0.0078	0	9.881e-05	0.0102	0.0011	0.0042	0.0003	0.0069	0.0072	0.0072	0.0062	0.0166	0.0065	0.0064	0.0154	0.0149	0.0166	0	0.0133	0.0072	0	0.0002	0.0228	0.0016	0.0086	0	0.053	0.38863	T	0.108	0.39492	T	0.985	0.61118	D	0.564	0.49695	P	0.000018	0.62929	N	0.069657	0.962551	0.26061	N	.	.	.	2.32	0.16640	T	-2.69	0.57435	D	0.148	0.15046	-1.0684	0.09768	T	0.027	0.11618	T	10	0.007605523	0.00173	T	.	.	.	0.117	0.32689	.	.	0.381271297758	0.37743	0.2750753668059625	0.27420	0.268327182844	0.29355	.	.	.	0.023256	0.17785	T	-0.689905	0.00042	T	-0.750152	0.03479	T	0.0407871333259104	0.03832	T	0.59884	0.22311	T	0.16299626	0.36413	0.24132113	0.49527	0.16299626	0.36413	0.24132113	0.49526	-3.943	0.22948	T	.	.	0.138	0.31203	B	.;.	.;.	2.105231	0.26786	17.24	0.99689526787376159	0.79842	0.55668	0.29922	D	AEFBCI	.	.	.	.	.	.	.	.	.	0.11997631986766	0.16857	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.81	3.03	0.34070	1.402000	0.34209	3.110000	0.36356	0.676000	0.76740	0.999000	0.42656	1.000000	0.68203	0.010000	0.09038	0.2235:0.0:0.7765:0.0	6.909	0.23505	645	0.63593	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1872.98	35	chrX	35919921	.	G	A	1872.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.440;DP=822;ExcessHet=0.0000;FS=2.226;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.52;ReadPosRankSum=-1.024e+00;SOR=0.898	GT:AD:DP:GQ:PL	0/1:56,73:129:99:1887,0,1312	20	0	1	0
chrX	35967712	35967712	C	T	exonic	CFAP47	.	nonsynonymous SNV	CFAP47:NM_001304548:exon10:c.C1694T:p.S565L	.	.	439	1067	9	7	0	23	0.010663	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.21	T	0.999	D	0.964	D	0.004	N	0.971	N	2.32	M	2.09	T	-0.965	T	0.133	T	0.448	2.718	15.05	5.35	2.228	4.779	15.397	0.205	0.303722080294	0.0013	0.000264901	0.0021	0.0002	0.0003	0	0.0007	0.0018	0	0.0085	0.0018046	279	154602	rs139917087	0.0016	0.0016	0.0014	0.0020	0.0081	0.0015	0.0015	0.0075	0.0072	3.796e-05	0.0005	0.0178	0	0.0009	0.0070	0.0010	0.0021	0.0081	0.0011	0.0012	0.0011	0.0012	0.0057	0.0010	0.0009	0.0035	0.0028	9.831e-05	0	0.0008	0.0163	0	0.0009	0	0.0008	0.0046	0.0057	0.003	0.68238	D	0.007	0.74150	D	0.999	0.77913	D	0.964	0.71005	D	0.003573	0.34767	N	0.244508	0.971333	0.25658	N	.	.	.	2.09	0.20122	T	-4.51	0.78222	D	0.545	0.57177	-0.9646	0.38290	T	0.133	0.44603	T	10	0.006130278	0.00138	T	0.303722	0.90966	D	0.205	0.49236	.	.	0.229543500084	0.22568	0.28002470413414443	0.27915	0.496707143037	0.48176	.	.	.	0.112852	0.42944	T	-0.501414	0.00561	T	-0.488878	0.23508	T	0.0567158743217567	0.06641	T	0.794521	0.43681	T	0.20438586	0.42547	0.30867738	0.56886	0.20438586	0.42547	0.30867738	0.56885	-4.05	0.24802	T	.	.	0.143	0.33958	B	.;.	.;.	2.615283	0.33978	19.50	0.99870885436492607	0.94815	0.88401	0.48312	D	AEFI	.	.	.	.	.	.	.	.	.	0.753485858743551	0.23397	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.35	5.35	0.76297	5.397000	0.66048	5.881000	0.50644	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.007000	0.07825	0.0:1.0:0.0:0.0	15.397	0.74519	563	0.71062	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1767.98	33	chrX	35967712	.	C	T	1767.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.41;DP=812;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.26;ReadPosRankSum=-4.970e-01;SOR=0.669	GT:AD:DP:GQ:PL	0/1:54,70:124:99:1782,0,1186	20	0	1	0
chrX	47081257	47081257	A	T	exonic	RGN	.	nonsynonymous SNV	RGN:NM_004683:exon2:c.A113T:p.K38M	.	.	427	1093	1	1	0	3	0.00137049	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08	T	0.587	P	0.398	B	0.000	D	1.000	N	2.72	M	1.46	T	-0.998	T	0.090	T	0.426	1.654	11.49	-1.29	-0.647	1.737	2.651	0.210	0.0494922460188	.	0.0013245	0.0008	0	0.0001	0	0	0	0	0.0065	0.0007762	120	154602	rs782752642	0.0003	0.0003	0.0002	0.0005	0.0055	0.0003	0.0002	0.0050	0.0048	0	0	0	0	0	0	5.944e-06	0.0001	0.0055	0.0001	0.0001	8.999e-05	0.0001	0.0046	6.137e-05	4.827e-05	0.0026	0.0021	0	0	0	0	0	0	0	0	0	0.0046	0.059	0.45756	T	0.04	0.50809	D	0.411	0.38961	B	0.313	0.44426	B	0.000002	0.62929	D	0.102708	1	0.08975	N	2.72	0.79541	M	1.46	0.32238	T	-2.87	0.60348	D	0.267	0.30233	-0.9982	0.30423	T	0.090	0.34463	T	10	0.009500563	0.00214	T	0.049492	0.63837	D	0.210	0.50028	0.608	0.74063	0.319970858106	0.31615	0.748294863627236	0.74775	0.0463735368092	0.05039	0.383498966694	0.22752	T	0.774339	0.93985	D	-0.526312	0.00404	T	-0.525759	0.19713	T	0.14952144733324	0.17065	T	0.848715	0.55187	T	0.4389861	0.63337	0.21177796	0.45620	0.4389861	0.63337	0.21177796	0.45619	-7.382	0.56778	T	.	.	0.105	0.26074	B	.;.;.;.	.;.;.;.	2.380018	0.30549	18.47	0.98897635564020847	0.48127	0.30116	0.23999	N	AEFGBCI	.	.	.	.	.	.	.	.	.	0.999925054259433	0.46280	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.68	-1.29	0.08805	2.234000	0.42681	0.575000	0.19646	0.754000	0.88378	0.989000	0.36753	0.163000	0.23278	0.730000	0.35099	0.4736:0.233:0.0647:0.2286	2.651	0.04694	2	0.99499	.;SMP-30/Gluconolactonase/LRE-like region;SMP-30/Gluconolactonase/LRE-like region;SMP-30/Gluconolactonase/LRE-like region	.	.	.	.	.	Likely benign	0	0	0	0	0	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	1211.98	38	chrX	47081257	.	A	T	1211.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.330e-01;DP=782;ExcessHet=0.0000;FS=1.930;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.38;ReadPosRankSum=0.966;SOR=0.945	GT:AD:DP:GQ:PL	0/1:32,42:74:99:1226,0,843	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	0/1:9,4:13:60:60,0,232	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	0/1:120,514:634:99:14609,0,1862	0	6	15	0
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	0/1:603,67:670:99:394,0,21241	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	0/1:558,68:626:99:627,0,20362	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	0/1:145,434:579:99:13156,0,2583	0	1	20	0
chrX	55146242	55146242	C	T	exonic	FAM104B	.	nonsynonymous SNV	FAM104B:NM_001166699:exon3:c.G193A:p.G65S	.	.	381	695	446	0	0	446	0.242919	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.76	T	0.988	D	0.986	D	0.181	N	1.000	N	-0.08	N	1.06	T	-1.010	T	0.074	T	0.096	-0.199	3.032	0.436	0.049	0.532	2.954	0.094	0.00575512673883	.	.	1.14e-05	0	0	0	0	0	0	9.881e-05	0.0002199	34	154602	rs751109928	9.107e-07	9.105e-07	1.361e-06	0	1.847e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.847e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.496	0.08685	T	0.847	0.04029	T	0.988	0.62325	D	0.931	0.76916	D	0.181380	0.17093	N	0.523101	1	0.08975	N	-0.405	0.02972	N	1.06	0.39781	T	0.88	0.01688	N	0.111	0.10340	-1.0096	0.27043	T	0.074	0.29897	T	10	0.024912208	0.00703	T	0.005755	0.14922	T	0.094	0.27141	0.117	0.02508	0.124217242631	0.12060	0.06545832632961472	0.06484	0.113139730866	0.12771	0.240586742759	0.02843	T	0.003551	0.02960	T	-0.539992	0.00335	T	-0.863145	0.00810	T	0.0237543456519899	0.01114	T	0.722728	0.37993	T	0.05084061	0.09248	0.06469397	0.13002	0.05084061	0.09248	0.06469397	0.13002	-2.72	0.09386	T	.	.	0.081	0.08176	B	.;.;.;.;.	.;.;.;.;.	0.646134	0.10147	6.889	0.73921017372164155	0.10504	0.01488	0.04944	N	AEFDGBI	.	.	.	.	.	.	.	.	.	0.999986279423699	0.51787	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.6	0.436	0.15762	0.673000	0.24883	0.315000	0.17124	-0.343000	0.05659	0.980000	0.35271	0.000000	0.08366	0.977000	0.56843	0.0:0.3059:0.0:0.6941	2.954	0.05513	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	0.1905	12630.32	397	chrX	55146242	.	C	T	12630.32	.	AC=8;AF=0.190;AN=42;BaseQRankSum=0.806;DP=9077;ExcessHet=3.5521;FS=0.686;InbreedingCoeff=-0.2394;MLEAC=8;MLEAF=0.190;MQ=60.00;MQRankSum=0.00;QD=3.42;ReadPosRankSum=0.420;SOR=0.625	GT:AD:DP:GQ:PL	0/1:333,126:459:99:2702,0,12009	13	0	8	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|1:399,47:446:99:0|1:55146247_G_C:727,0,16459:55146247	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|1:389,45,0:434:99:0|1:55146247_G_C:690,0,16121,1861,16256,18117:55146247	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	0/1:171,237:408:99:7241,0,5830	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|1:374,42:416:99:0|1:55146247_G_C:638,0,15554:55146247	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	0/2:290,42,66:398:99:.:.:1147,420,13442,0,8649,9827	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	0/2:290,42,66:398:99:.:.:1147,420,13442,0,8649,9827	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	0/1:109,195:304:99:6393,0,3591	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	0/1:210,56:266:99:1003,0,7237	5	0	15	1
chrX	67545334	67545334	-	GCA	exonic	AR	.	nonframeshift insertion	AR:NM_000044:exon1:c.188_189insGCA:p.Q80_E81insQ	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.525	6296.79	21	chrX	67545316	.	TGCAGCAGCAGCAGCAGCA	TGCAGCAGCAGCAGCAGCAGCA,TGCAGCAGCA,TGCAGCAGCAGCAGCA,T,TGCAGCAGCAGCA,TGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA	6296.79	.	AC=8,4,4,3,3,2;AF=0.200,0.100,0.100,0.075,0.075,0.050;AN=40;BaseQRankSum=-3.660e-01;DP=771;ExcessHet=0.0448;FS=2.766;InbreedingCoeff=0.3207;MLEAC=8,4,4,3,3,2;MLEAF=0.200,0.100,0.100,0.075,0.075,0.050;MQ=60.00;MQRankSum=0.00;QD=32.29;ReadPosRankSum=0.00;SOR=1.030	GT:AD:DP:GQ:PL	1/2:0,6,9,0,0,0,0:17:99:549,361,357,207,0,345,579,380,378,755,579,380,378,755,755,579,380,378,755,755,755,579,380,378,755,755,755,755	5	3	1	1
chrX	67545326	67545334	GCAGCAGCA	-	exonic	AR	.	nonframeshift deletion	AR:NM_000044:exon1:c.180_188del:p.Q78_Q80del	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.525	6296.79	21	chrX	67545316	.	TGCAGCAGCAGCAGCAGCA	TGCAGCAGCAGCAGCAGCAGCA,TGCAGCAGCA,TGCAGCAGCAGCAGCA,T,TGCAGCAGCAGCA,TGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA	6296.79	.	AC=8,4,4,3,3,2;AF=0.200,0.100,0.100,0.075,0.075,0.050;AN=40;BaseQRankSum=-3.660e-01;DP=771;ExcessHet=0.0448;FS=2.766;InbreedingCoeff=0.3207;MLEAC=8,4,4,3,3,2;MLEAF=0.200,0.100,0.100,0.075,0.075,0.050;MQ=60.00;MQRankSum=0.00;QD=32.29;ReadPosRankSum=0.00;SOR=1.030	GT:AD:DP:GQ:PL	1/2:0,6,9,0,0,0,0:17:99:549,361,357,207,0,345,579,380,378,755,579,380,378,755,755,579,380,378,755,755,755,579,380,378,755,755,755,755	5	3	1	1
chrX	67545332	67545334	GCA	-	exonic	AR	.	nonframeshift deletion	AR:NM_000044:exon1:c.186_188del:p.Q80del	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.525	6296.79	21	chrX	67545316	.	TGCAGCAGCAGCAGCAGCA	TGCAGCAGCAGCAGCAGCAGCA,TGCAGCAGCA,TGCAGCAGCAGCAGCA,T,TGCAGCAGCAGCA,TGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA	6296.79	.	AC=8,4,4,3,3,2;AF=0.200,0.100,0.100,0.075,0.075,0.050;AN=40;BaseQRankSum=-3.660e-01;DP=771;ExcessHet=0.0448;FS=2.766;InbreedingCoeff=0.3207;MLEAC=8,4,4,3,3,2;MLEAF=0.200,0.100,0.100,0.075,0.075,0.050;MQ=60.00;MQRankSum=0.00;QD=32.29;ReadPosRankSum=0.00;SOR=1.030	GT:AD:DP:GQ:PL	1/2:0,6,9,0,0,0,0:17:99:549,361,357,207,0,345,579,380,378,755,579,380,378,755,755,579,380,378,755,755,755,579,380,378,755,755,755,755	5	3	1	1
chrX	67545329	67545334	GCAGCA	-	exonic	AR	.	nonframeshift deletion	AR:NM_000044:exon1:c.183_188del:p.Q79_Q80del	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.525	6296.79	21	chrX	67545316	.	TGCAGCAGCAGCAGCAGCA	TGCAGCAGCAGCAGCAGCAGCA,TGCAGCAGCA,TGCAGCAGCAGCAGCA,T,TGCAGCAGCAGCA,TGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA	6296.79	.	AC=8,4,4,3,3,2;AF=0.200,0.100,0.100,0.075,0.075,0.050;AN=40;BaseQRankSum=-3.660e-01;DP=771;ExcessHet=0.0448;FS=2.766;InbreedingCoeff=0.3207;MLEAC=8,4,4,3,3,2;MLEAF=0.200,0.100,0.100,0.075,0.075,0.050;MQ=60.00;MQRankSum=0.00;QD=32.29;ReadPosRankSum=0.00;SOR=1.030	GT:AD:DP:GQ:PL	1/2:0,6,9,0,0,0,0:17:99:549,361,357,207,0,345,579,380,378,755,579,380,378,755,755,579,380,378,755,755,755,579,380,378,755,755,755,755	5	3	1	1
chrX	67545334	67545334	-	GCAGCAGCAGCA	exonic	AR	.	nonframeshift insertion	AR:NM_000044:exon1:c.188_189insGCAGCAGCAGCA:p.Q80_E81insQQQQ	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.525	6296.79	21	chrX	67545316	.	TGCAGCAGCAGCAGCAGCA	TGCAGCAGCAGCAGCAGCAGCA,TGCAGCAGCA,TGCAGCAGCAGCAGCA,T,TGCAGCAGCAGCA,TGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA	6296.79	.	AC=8,4,4,3,3,2;AF=0.200,0.100,0.100,0.075,0.075,0.050;AN=40;BaseQRankSum=-3.660e-01;DP=771;ExcessHet=0.0448;FS=2.766;InbreedingCoeff=0.3207;MLEAC=8,4,4,3,3,2;MLEAF=0.200,0.100,0.100,0.075,0.075,0.050;MQ=60.00;MQRankSum=0.00;QD=32.29;ReadPosRankSum=0.00;SOR=1.030	GT:AD:DP:GQ:PL	1/2:0,6,9,0,0,0,0:17:99:549,361,357,207,0,345,579,380,378,755,579,380,378,755,755,579,380,378,755,755,755,579,380,378,755,755,755,755	5	3	1	1
chrX	70853278	70853278	G	C	exonic	TEX11	.	nonsynonymous SNV	TEX11:NM_031276:exon6:c.C375G:p.I125M	Spermatogenic failure, X-linked, 2, X-linked recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.052	B	0.027	B	0.955	N	0.993	N	0.805	L	1.68	T	-1.018	T	0.041	T	0.057	-2.363	0.004	-9.35	-3.772	-1.322	10.846	0.011	0.00154327760253	.	.	3.544e-05	0	0	0	0	4.345e-05	0	0.0001	3.23e-05	5	154602	rs770843069	3.832e-05	3.824e-05	3.812e-05	3.875e-05	7.402e-05	2.869e-05	2.544e-05	3.249e-05	2.836e-05	0	0	0	0	0	0	4.404e-05	2.173e-05	7.402e-05	2.683e-05	2.613e-05	2.571e-05	2.94e-05	5.637e-05	7.13e-06	2.98e-06	1.496e-05	8.15e-06	0	0	0	0	0	0	0	5.637e-05	0	0	0.304	0.14303	T	0.198	0.28300	T	0.052	0.22494	B	0.027	0.21085	B	0.954693	0.07678	N	1.022040	0.999999	0.08975	N	1.1	0.28011	L	1.68	0.27331	T	0.01	0.06868	N	0.018	0.00252	-1.0184	0.24236	T	0.041	0.17573	T	9	0.06172833	0.07783	T	0.001543	0.02420	T	0.011	0.01250	0.264	0.20946	0.226560886239	0.22246	0.0671385164734485	0.06651	0.313104685664	0.33605	0.294938385487	0.09649	T	0.032564	0.22540	T	-0.685087	0.00045	T	-1.01635	0.00110	T	0.215313345193863	0.21227	T	0.367163	0.08573	T	0.06765794	0.14671	0.07757467	0.17293	0.06765794	0.14670	0.07757467	0.17293	-1.991	0.03584	T	0.11726923188098118	0.10694	0.080	0.07985	B	.;.;.	.;.;.	-1.738883	0.00179	0.003	0.4671895718439692	0.03764	0.00781	0.03206	N	AEFBI	.	.	.	.	.	.	.	.	.	0.999872576568463	0.44625	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.67	-9.35	0.00536	-1.387000	0.02641	.	.	-1.228000	0.01329	0.000000	0.06391	0.000000	0.08366	0.140000	0.19946	0.637:0.2807:0.0822:0.0	10.846	0.45950	120	0.95183	.;.;.	.	.	.	.	.	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	1666.98	35	chrX	70853278	.	G	C	1666.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.90;DP=819;ExcessHet=0.0000;FS=0.712;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.01;ReadPosRankSum=-2.601e+00;SOR=0.836	GT:AD:DP:GQ:PL	0/1:61,58:119:99:1681,0,1454	20	0	1	0
chrX	71667915	71667915	G	A	exonic	LOC101059915	.	nonsynonymous SNV	LOC101059915:NM_001323075:exon1:c.G112A:p.G38S,	.	.	557	942	14	9	0	32	0.0167015	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00344371	.	.	.	.	.	.	.	.	0.0056862	148	26028	rs187786114	0.0083	0.0079	0.0082	0.0085	0.0172	0.0082	0.0081	0.0133	0.0119	0.0008	0.0042	0.0170	0.0003	0.0092	0.0172	0.0088	0.0084	0.0063	0.0057	0.0058	0.0059	0.0053	0.0082	0.0054	0.0052	0.0076	0.0073	0.0009	0	0.0050	0.0158	0	0.0077	0.0230	0.0082	0.0091	0.0067	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.007861108	0.00179	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.390761	0.09705	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.087	0.11220	B	.	.	-0.129445	0.03469	0.645	0.86795719449471675	0.16779	0.01530	0.05038	N	AEFDBI	.	.	.	.	.	.	.	.	.	5.22590909710222E-4	0.07225	.	.	.	.	.	.	.	.	.	.	.	.	0.0436289	0.02737	2.46	1.58	0.22557	-0.345000	0.07819	-0.900000	0.06995	-0.328000	0.05798	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.1922:0.0:0.8078:0.0	4.635	0.11903	125	0.94984	.	.	.	.	.	.	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	4134.11	33	chrX	71667915	.	G	A	4134.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.07;DP=935;ExcessHet=0.1072;FS=3.542;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=16.47;ReadPosRankSum=1.66;SOR=0.722	GT:AD:DP:GQ:PL	0/1:49,86:135:99:2417,0,1195	19	0	2	0
chrX	74591904	74591904	A	G	exonic	RLIM	.	nonsynonymous SNV	RLIM:NM_016120:exon4:c.T1411C:p.S471P	Mental retardation, X-linked 61, X-linked recessive	.	9	1217	293	0	3	296	0.107444	.	.	706313	not_provided	MedGen:CN517202	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.22	T	0.842	P	0.1	B	0.514	U	1.000	N	0	N	-1.96	D	-0.795	T	0.216	T	0.391	-2.619	0	0.088	0.675	0.068	3.724	0.240	.	.	.	0.0029	0.0116	0.0005	0	0.0003	0.0029	0	0.0019	0.0113453	1754	154602	rs201164156	0.0008	0.0027	0.0011	0	0.0013	0.0007	0.0007	0.0009	0.0008	0.0013	0.0003	0.0003	0.0002	0.0021	0.0008	0.0008	0.0009	0.0001	0.0005	0.0047	0.0008	0	0.0009	0.0004	0.0004	0.0004	0.0003	0.0006	0	0.0005	0.0004	0.0009	0.0005	0	0.0005	0.0007	0.0004	0.21	0.19639	T	0.328	0.18675	T	0.842	0.46562	P	0.1	0.30674	B	0.514165	0.11812	U	0.638142	1	0.08975	N	1.7	0.43825	L	-1.96	0.85091	D	-0.25	0.11008	N	0.207	0.22998	-0.7951	0.55432	T	0.216	0.57836	T	10	0.006244242	0.00141	T	.	.	.	0.240	0.54500	.	.	.	.	0.4665592874844735	0.46574	0.934645105114	0.71975	0.607906699181	0.54020	T	0.132362	0.46240	T	-0.0295646	0.47480	T	-0.280244	0.46779	T	0.0105822094544231	0.00148	T	0.430157	0.11673	T	0.09892091	0.23338	0.13853694	0.33082	0.09892091	0.23338	0.13853694	0.33082	-7.284	0.56081	T	0.3542269034747019	0.45119	0.098	0.16231	B	.;.	.;.	0.643466	0.10120	6.865	0.20867452940731573	0.00770	0.09317	0.15097	N	AEFGBCI	.	.	.	.	.	.	.	.	.	0.920848692020125	0.26649	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.66	0.088	0.13764	0.990000	0.29242	2.406000	0.32617	0.756000	0.94297	0.212000	0.24446	0.201000	0.23571	0.004000	0.06068	0.5962:0.4038:0.0:0.0	3.724	0.07997	99	0.95913	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.3095	5960.15	34	chrX	74591904	.	A	G	5960.15	.	AC=13;AF=0.310;AN=42;BaseQRankSum=-3.726e+00;DP=3755;ExcessHet=11.8493;FS=3.151;InbreedingCoeff=-0.4483;MLEAC=13;MLEAF=0.310;MQ=58.85;MQRankSum=-1.351e+01;QD=1.72;ReadPosRankSum=3.78;SOR=0.410	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:328,29:357:99:0|1:74591902_T_A:230,0,13636:74591902	8	0	13	0
chrX	74740311	74740311	G	A	exonic	NEXMIF	.	nonsynonymous SNV	NEXMIF:NM_001008537:exon3:c.C4246T:p.P1416S,	.	.	0	1488	19	15	0	49	0.0161983	.	.	209184	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.28	T	0.003	B	0.003	B	0.950	N	1.000	N	-0.145	N	1.4	T	-1.011	T	0.041	T	0.191	-0.099	3.513	0.953	0.072	1.139	5.072	0.024	.	0.0025	0.00423841	0.0042	0.0002	0.0025	0	0.0009	0.0032	0.0047	0.0183	0.0041461	641	154602	rs143577015	0.0037	0.0037	0.0033	0.0045	0.0210	0.0036	0.0036	0.0179	0.0175	0.0004	0.0030	0.0036	0	0.0006	0.0210	0.0030	0.0045	0.0189	0.0030	0.0031	0.0030	0.0028	0.0187	0.0027	0.0026	0.0146	0.0131	0.0005	0	0.0021	0.0019	0	0.0010	0.0186	0.0042	0.0046	0.0187	0.164	0.23360	T	0.537	0.09863	T	0.003	0.11197	B	0.003	0.08700	B	0.950024	0.07650	N	1.020200	1	0.08975	N	.	.	.	1.4	0.33630	T	-0.26	0.11185	N	0.043	0.01577	-1.0113	0.26510	T	0.041	0.17446	T	10	0.005046755	0.00109	T	.	.	.	0.043	0.11576	.	.	0.110392049598	0.10638	0.05384120559567808	0.05326	0.225443782394	0.25087	0.246586099267	0.03417	T	0.026208	0.19441	T	-0.671795	0.00054	T	-0.723484	0.04629	T	0.0017482905982906	0.00018	T	0.627737	0.24333	T	0.033257518	0.03508	0.07495811	0.16451	0.03067696	0.02771	0.060889095	0.11667	-2.562	0.06220	T	.	.	0.087	0.11414	B	.;.;.	.;.;.	1.128051	0.15144	11.62	0.79036634721978738	0.12562	0.63772	0.32194	D	AEFBI	.	.	.	.	.	.	.	.	.	1.02528459067012E-4	0.05123	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.36	0.953	0.18714	2.789000	0.47504	3.723000	0.39593	-0.169000	0.11342	1.000000	0.71638	1.000000	0.68203	0.965000	0.52897	0.1589:0.2892:0.4622:0.0896	5.072	0.13946	103	0.95740	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	0.07143	5724.66	35	chrX	74740311	.	G	A	5724.66	.	AC=3;AF=0.071;AN=42;BaseQRankSum=-2.485e+00;DP=974;ExcessHet=0.0000;FS=0.420;InbreedingCoeff=0.6410;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=17.89;ReadPosRankSum=-7.000e-03;SOR=0.731	GT:AD:DP:GQ:PL	0/1:117,113:230:99:2896,0,3278	19	1	1	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	0/1:125,40:165:99:183,0,2407	13	0	7	1
chrX	134809342	134809342	T	C	exonic	FAM122C	.	nonsynonymous SNV	FAM122C:NM_001170781:exon2:c.T266C:p.I89T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	2.269e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0918487	0.16123	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.183553	0.53593	T	.	.	.	.	.	.	.	.	.	0.0444955	0.00313	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.538	0.66251	A	.;.;.;.	.;.;.;.	0.204134	0.05883	2.325	0.59356554914580506	0.06205	0.00180	0.01055	N	AEBI	.	.	.	.	.	.	.	.	.	0.99115133534266	0.32391	.	.	.	.	.	.	.	.	.	.	.	.	0.0476178	0.06944	0.654	-1.31	0.08749	-0.288000	0.08412	0.753000	0.21252	0.258000	0.18382	0.002000	0.15269	0.001000	0.17328	0.075000	0.16954	.	.	.	571	0.70397	.;.;.;.	.	.	.	.	.	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	0.07692	35.46	39	chrX	134809342	.	T	C	35.46	.	AC=2;AF=0.077;AN=26;DP=39;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=0.3415;MLEAC=2;MLEAF=0.077;MQ=60.00;QD=17.73;SOR=0.693	GT:AD:DP:GQ:PL	1/1:0,2:2:6:49,6,0	12	1	0	8
chrX	139826766	139826766	C	T	exonic	ATP11C	.	nonsynonymous SNV	ATP11C:NM_001010986:exon2:c.G94A:p.V32I	.	.	437	1083	2	0	0	2	0.000922509	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4	T	0.0	B	0.002	B	0.088	N	1.000	N	0.48	N	0.57	T	-1.083	T	0.061	T	0.029	0.920	8.745	-1.13	-0.242	-0.851	1.740	0.042	0.00544947197146	.	0.0010596	0.0006	0.0002	0	0	0	0	0	0.0053	0.0006598	102	154602	rs768884689	0.0003	0.0003	0.0002	0.0005	0.0058	0.0003	0.0003	0.0052	0.0050	7.597e-05	0	0	0	0	0.0002	4.765e-06	0.0003	0.0058	0.0001	0.0001	7.71e-05	0.0002	0.0041	6.098e-05	4.796e-05	0.0023	0.0018	3.237e-05	0	0	0	0	0	0	0	0	0.0041	0.399	0.10517	T	0.4	0.15010	T	0.0	0.02946	B	0.001	0.06944	B	0.088010	0.20503	N	0.482234	0.999999	0.08975	N	0.61	0.15665	N	0.57	0.54347	T	-0.21	0.11185	N	0.02	0.00445	-1.0830	0.06776	T	0.061	0.25635	T	10	0.0040671825	0.00079	T	0.005449	0.14015	T	0.042	0.11227	0.319	0.29741	0.117191471859	0.11215	0.24162465651941567	0.24076	0.364172412179	0.38030	0.251617580652	0.03940	T	0.04049	0.25543	T	-0.837926	0.00003	T	-0.975171	0.00193	T	0.00873280373551349	0.00107	T	0.739826	0.36463	T	0.06267196	0.13115	0.04027875	0.04316	0.06677326	0.14398	0.037765484	0.03500	-4.376	0.29230	T	.	.	0.071	0.05668	B	.;.;.	.;.;.	0.073895	0.04817	1.421	0.9329271089721185	0.23001	0.07694	0.13697	N	ALL	.	.	.	.	.	.	.	.	.	0.999999997643421	0.74766	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.03	-1.13	0.09274	-1.930000	0.01648	-0.315000	0.10009	0.549000	0.26987	0.000000	0.06391	0.120000	0.22892	0.990000	0.65344	0.1347:0.3899:0.13:0.3454	1.740	0.02773	974	0.05496	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	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	1625.98	34	chrX	139826766	.	C	T	1625.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.392;DP=824;ExcessHet=0.0000;FS=0.642;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.23;ReadPosRankSum=-4.700e-01;SOR=0.611	GT:AD:DP:GQ:PL	0/1:67,66:133:99:1640,0,1666	20	0	1	0
chrX	152766771	152766771	T	C	exonic	MAGEA6	.	nonsynonymous SNV	MAGEA6:NM_005363:exon3:c.A880G:p.S294G	.	.	437	1054	22	9	0	40	0.018622	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.22	T	0.0	B	0.0	B	0.084	N	1.000	N	1.79	L	4.68	T	-0.911	T	0.008	T	0.157	0.247	5.337	-0.021	-0.041	0.314	3.881	0.020	0.000939796218196	.	.	.	.	.	.	.	.	.	.	6.5e-06	1	154602	rs149795670	0.0002	0.0002	0.0001	0.0002	0.0094	0.0001	0.0001	0.0071	0.0063	0	5.684e-05	0.0004	0	0	0.0094	6.656e-05	0.0006	0.0009	0.0001	0.0001	0.0001	0.0001	0.0008	6.876e-05	5.385e-05	0.0001	6.549e-05	3.252e-05	0	0	0.0004	0	0	0	0.0002	0	0.0008	0.154	0.24277	T	0.09	0.40267	T	.	.	.	.	.	.	0.084434	0.02389	N	1.866700	1	0.08975	N	.	.	.	4.68	0.01715	T	-1.92	0.44657	N	0.091	0.06990	-0.9114	0.46682	T	0.008	0.02884	T	10	0.099959314	0.18175	T	9.4E-4	0.00934	T	.	.	0.363	0.36874	0.530606565545	0.52708	0.2508074439492044	0.24994	.	.	0.471705913544	0.34914	T	0.010616	0.09570	T	-0.425724	0.01574	T	-0.8493	0.00968	T	0.0395750029595417	0.03613	T	0.239776	0.03423	T	0.09530217	0.22426	0.11327622	0.27337	0.09530217	0.22426	0.11327622	0.27336	-5.449	0.41388	T	.	.	0.077	0.06803	B	.;.	.;.	0.302974	0.06786	3.305	0.83511777602203896	0.14766	0.02893	0.07682	N	AEFDCI	.	.	.	.	.	.	.	.	.	1.09901603177333E-6	0.01202	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.42	-0.0211	0.13278	0.178000	0.16634	.	.	0.233000	0.18164	0.002000	0.15269	0.000000	0.08366	0.095000	0.18041	0.0:0.0:0.3894:0.6106	3.881	0.08584	709	0.56835	MAGE homology domain;MAGE homology 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	3457.98	33	chrX	152766771	.	T	C	3457.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.164e+00;DP=1019;ExcessHet=0.0000;FS=2.570;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.93;MQRankSum=0.987;QD=11.76;ReadPosRankSum=0.609;SOR=0.553	GT:AD:DP:GQ:PL	0/1:150,144:294:99:3472,0,4316	20	0	1	0
chrX	153580229	153580229	G	T	exonic	ATP2B3	.	nonsynonymous SNV	ATP2B3:NM_001001344:exon20:c.G3594T:p.K1198N,	.	YES	.	.	.	.	.	.	.	.	.	244001	Abnormal_cerebral_cortex_morphology|Hypotonia|Global_developmental_delay|Oral-pharyngeal_dysphagia|Carious_teeth|Microcephaly|Intellectual_disability|Muscular_atrophy|X-linked_progressive_cerebellar_ataxia	Human_Phenotype_Ontology:HP:0002538,MedGen:C4025701|Human_Phenotype_Ontology:HP:0001252,MedGen:C0026827|Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874|Human_Phenotype_Ontology:HP:0200136,MedGen:C0267071|Human_Phenotype_Ontology:HP:0000670,Human_Phenotype_Ontology:HP:0006295,Human_Phenotype_Ontology:HP:0006306,MONDO:MONDO:0005276,MedGen:C0011334|Human_Phenotype_Ontology:HP:0000252,Human_Phenotype_Ontology:HP:0001366,Human_Phenotype_Ontology:HP:0005485,Human_Phenotype_Ontology:HP:0005489,Human_Phenotype_Ontology:HP:0005497,MONDO:MONDO:0001149,MedGen:C4551563|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|Human_Phenotype_Ontology:HP:0001299,Human_Phenotype_Ontology:HP:0003202,Human_Phenotype_Ontology:HP:0003545,Human_Phenotype_Ontology:HP:0003671,Human_Phenotype_Ontology:HP:0003702,Human_Phenotype_Ontology:HP:0003746,Human_Phenotype_Ontology:HP:0006995,Human_Phenotype_Ontology:HP:0007171,Human_Phenotype_Ontology:HP:0007356,Human_Phenotype_Ontology:HP:0009010,Human_Phenotype_Ontology:HP:0009048,Human_Phenotype_Ontology:HP:0100868,MONDO:MONDO:0004323,MedGen:C0541794|MONDO:MONDO:0010547,MedGen:C0796205,OMIM:302500,Orphanet:1175	criteria_provided,_single_submitter	Likely_pathogenic	.	.	.	.	.	.	.	.	0	D	1.0	D	0.998	D	0.144	N	1.000	D	1.1	L	-3.45	D	0.255	D	0.891	D	0.3	4.074	20.9	5.34	2.212	1.348	16.741	0.467	0.418433081814	.	.	.	.	.	.	.	.	.	.	.	.	.	rs782596945	9.229e-07	9.105e-07	1.372e-06	0	3.855e-05	0	0	.	.	3.855e-05	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.65419	D	0.033	0.53072	D	0.999	0.77913	D	0.998	0.88582	D	0.144195	0.02910	N	1.669800	0.98271	0.81001	D	-0.695	0.01866	N	-3.45	0.94469	D	-1.09	0.28290	N	0.644	0.65587	0.255	0.86828	D	0.891	0.96388	D	10	0.3843456	0.54428	T	0.418433	0.93743	D	0.467	0.76222	0.197	0.10975	0.939107827343	0.93848	0.6164852695513366	0.61580	1.67296278305	0.89877	0.495664149523	0.38223	T	0.083323	0.37028	T	0.0469897	0.57953	T	-0.170279	0.57417	T	0.845075488090515	0.49746	D	0.777722	0.41106	T	0.27985528	0.51034	0.27440202	0.53367	0.26845282	0.49917	0.24045628	0.49418	-2.548	0.06118	T	.	.	0.206	0.44720	B	.;.	.;.	3.870699	0.56190	23.7	0.9987961283767508	0.95572	0.92775	0.56515	D	AEFBI	.	.	.	.	.	.	.	.	.	0.999995552017283	0.74766	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.34	5.34	0.75982	1.043000	0.29926	.	.	-0.110000	0.15115	0.990000	0.36992	1.000000	0.68203	0.997000	0.79791	0.0:0.0:1.0:0.0	16.741	0.85319	9	0.99126	.;.	.	.	.	.	.	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	1690.98	42	chrX	153580229	.	G	T	1690.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.41;DP=956;ExcessHet=0.0000;FS=2.217;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.83;ReadPosRankSum=0.799;SOR=0.941	GT:AD:DP:GQ:PL	0/1:76,67:143:99:1705,0,1893	20	0	1	0
chrX	153767884	153767884	G	A	exonic	PLXNB3	.	nonsynonymous SNV	PLXNB3:NM_005393:exon3:c.G1057A:p.V353I	.	.	.	.	.	.	.	.	.	.	.	2354595	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.2	T	0.971	D	0.331	B	0.000	D	1.000	D	2.475	M	2.87	T	-1.041	T	0.042	T	0.154	2.408	14.01	4.9	2.027	5.479	16.008	0.138	0.0162365341208	.	0.000794702	0.0009	0.0014	0	0	0.0019	0	0	0	0.0001229	19	154602	rs782055449	0.0004	0.0004	0.0005	0.0004	0.0008	0.0004	0.0004	0.0005	0.0005	0.0008	0.0002	0	0	0.0002	0	0.0005	0.0002	2.367e-05	0.0003	0.0003	0.0003	0.0002	0.0004	0.0002	0.0002	0.0002	0.0002	0.0004	0	0	0	0	0.0002	0	0.0003	0	0.0004	0.051	0.39820	T	0.009	0.66756	D	0.818	0.45651	P	0.3	0.41053	B	0.000180	0.48594	D	0.078296	0.981501	0.81001	D	2.755	0.80505	M	2.87	0.10386	T	-0.68	0.19509	N	0.132	0.12770	-1.0407	0.17101	T	0.042	0.17952	T	10	0.03382954	0.01570	T	0.016237	0.37399	T	0.138	0.37187	0.397	0.42426	0.176091768786	0.17195	0.543701675546551	0.54296	.	.	0.641535997391	0.58783	T	0.021032	0.16449	T	-0.60638	0.00133	T	-0.684332	0.06723	T	0.0531830383324965	0.06051	T	0.816118	0.47137	T	0.15530927	0.35108	0.19285153	0.42823	0.15530927	0.35108	0.19285153	0.42822	-8.266	0.62868	D	.	.	0.122	0.25721	B	.;.	.;.	2.477259	0.31942	18.89	0.99018256215603362	0.50527	0.91255	0.53165	D	AEFBCI	.	.	.	.	.	.	.	.	.	0.999999999997611	0.74766	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.9	4.9	0.63643	5.773000	0.68552	.	.	0.672000	0.70159	1.000000	0.71638	1.000000	0.68203	0.093000	0.17941	0.0:0.0:1.0:0.0	16.008	0.80177	53	0.97589	.;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	0.02381	1096.98	33	chrX	153767884	.	G	A	1096.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.01;DP=777;ExcessHet=0.0000;FS=4.028;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.47;ReadPosRankSum=0.964;SOR=1.132	GT:AD:DP:GQ:PL	0/1:45,43:88:99:1111,0,1066	20	0	1	0
chrX	154016979	154016979	C	G	exonic	IRAK1	.	nonsynonymous SNV	IRAK1:NM_001025242:exon8:c.G998C:p.S333T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	T	0.737	P	0.338	B	0.000	D	0.817	N	1.04	L	-0.97	T	-0.156	T	0.578	D	0.188	2.438	14.11	2.94	0.901	0.304	0.397	0.027	0.263911540571	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.021	0.49117	D	0.286	0.26631	T	0.737	0.42882	P	0.338	0.42306	B	0.000275	0.46590	D	0.096299	0.816647	0.28935	N	1.2	0.30300	L	-0.97	0.94260	T	-1.71	0.42191	N	0.166	0.26475	-0.1564	0.78759	T	0.578	0.84773	D	10	0.1593937	0.29949	T	0.263912	0.89616	D	0.261	0.57352	0.461	0.52916	0.878924774697	0.87774	0.6863290368899297	0.68572	0.480116509671	0.47032	0.422553479671	0.28188	T	0.126456	0.45284	T	-0.0420581	0.45642	T	-0.29819	0.44915	T	0.38457915186882	0.28358	T	0.70483	0.31518	T	0.4206406	0.62134	0.29930955	0.55964	0.4206406	0.62135	0.29930955	0.55963	-7.09	0.57470	T	.	.	0.073	0.11845	B	.;.;.;.	.;.;.;.	1.469138	0.18928	14.00	0.99314057640640352	0.59129	0.18418	0.20252	N	AEFDBCI	.	.	.	.	.	.	.	.	.	0.999983153148461	0.51787	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.04	2.94	0.33188	-0.011000	0.12659	0.993000	0.23206	-0.244000	0.07312	0.020000	0.19661	1.000000	0.68203	0.995000	0.73285	0.2401:0.3134:0.2285:0.2179	0.397	0.00391	76	0.96806	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	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1948.98	35	chrX	154016979	.	C	G	1948.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.96;DP=814;ExcessHet=0.0000;FS=1.482;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.52;ReadPosRankSum=-8.110e-01;SOR=0.668	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:66,52:118:99:0|1:154016978_G_A:1963,0,2610:154016978	20	0	1	0
chrX	154435464	154435464	A	C	exonic	ATP6AP1	.	nonsynonymous SNV	ATP6AP1:NM_001183:exon9:c.A1162C:p.T388P,	Immunodeficiency 47, X-linked recessive	.	434	1086	2	0	0	2	0.000919963	.	.	717722	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.28	T	0.005	B	0.006	B	0.142	N	1.000	N	0.55	N	.	.	-1.075	T	0.028	T	0.045	2.963	15.88	-8.59	-1.407	-1.476	5.543	0.041	.	0.0083	0.00529801	0.0024	0.0232	0.0009	0	0	2.104e-05	0	9.911e-05	0.001934	299	154602	rs140009552	0.0006	0.0006	0.0007	0.0005	0.0212	0.0006	0.0006	0.0198	0.0192	0.0212	0.0009	0	0	2.487e-05	0.0010	1.306e-05	0.0020	0.0001	0.0057	0.0059	0.0060	0.0051	0.0198	0.0054	0.0052	0.0185	0.0180	0.0198	0	0.0019	0	0	0	0	3.757e-05	0.0046	0.0004	0.346	0.12469	T	0.36	0.18395	T	0.005	0.12996	B	0.006	0.12133	B	0.141858	0.02892	N	1.603740	1	0.08975	N	0.635	0.15989	N	.	.	.	-1.05	0.27463	N	0.072	0.04547	-1.0755	0.08246	T	0.028	0.12058	T	9	0.003888905	0.00074	T	.	.	.	0.041	0.10877	.	.	0.0675242888579	0.06100	0.804307114119158	0.80384	0.344771947159	0.36405	0.280469447374	0.07558	T	0.079302	0.36097	T	-0.888689	0.00001	T	-1.03306	0.00086	T	0.00184492837984997	0.00019	T	0.356864	0.08118	T	0.3200025	0.54640	0.19307773	0.42857	0.30794594	0.53608	0.122625925	0.29576	-2.859	0.08739	T	0.15264222971573282	0.18097	0.061	0.01645	B	.;.	.;.	-0.115132	0.03552	0.683	0.86005103658211635	0.16251	0.06049	0.12019	N	AEFBI	.	.	.	.	.	.	.	.	.	0.999999981926117	0.74766	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.69	-8.59	0.00776	-1.277000	0.02920	-0.486000	0.08890	0.756000	0.94297	0.000000	0.06391	0.000000	0.08366	0.476000	0.28476	0.2259:0.1913:0.4938:0.0891	5.543	0.16334	81	0.96616	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1266.98	34	chrX	154435464	.	A	C	1266.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.550e-01;DP=806;ExcessHet=0.0000;FS=0.726;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.31;ReadPosRankSum=0.234;SOR=0.561	GT:AD:DP:GQ:PL	0/1:61,51:112:99:1281,0,1638	20	0	1	0
chrX	154468309	154468309	C	T	exonic	PLXNA3	.	nonsynonymous SNV	PLXNA3:NM_017514:exon23:c.C3970T:p.P1324S,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.65	T	0.009	B	0.021	B	0.004	U	0.948	D	0.18	N	2.8	T	-0.976	T	0.015	T	0.076	-1.041	0.206	5.33	2.234	3.621	10.518	0.069	0.00517296761323	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.172e-07	9.105e-07	1.365e-06	0	.	0	0	.	.	0	0	0	0	0	0	0	2.186e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.652	0.04817	T	0.639	0.06992	T	.	.	.	.	.	.	0.004063	0.34148	U	0.116625	0.94769	0.37579	D	.	.	.	2.8	0.11082	T	-0.68	0.19509	N	0.416	0.45615	-0.9762	0.35860	T	0.015	0.06234	T	10	0.24621916	0.41883	T	0.005173	0.13156	T	0.069	0.20116	0.464	0.53404	0.434880891158	0.43107	0.6578565831039377	0.65722	.	.	0.484374463558	0.36659	T	.	.	.	-0.487598	0.00670	T	-0.938177	0.00301	T	0.0701749254954816	0.08675	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.079	0.07083	B	.	.	1.846398	0.23457	16.02	0.42542316916543571	0.03143	0.92686	0.56299	D	AEFDBI	.	.	.	.	.	.	.	.	.	0.999762826612797	0.42728	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.33	5.33	0.75683	3.797000	0.55219	-1.618000	0.05050	0.591000	0.32079	0.997000	0.40164	0.000000	0.08366	0.035000	0.13729	0.0:0.9076:0.0:0.0924	10.518	0.44090	74	0.96871	.	.	.	.	.	.	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	888.98	63	chrX	154468309	.	C	T	888.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.14;DP=1088;ExcessHet=0.0000;FS=0.938;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.68;ReadPosRankSum=-1.710e-01;SOR=0.657	GT:AD:DP:GQ:PL	0/1:34,31:65:99:903,0,1032	20	0	1	0
chrX	154534419	154534419	G	A	exonic	G6PD	.	nonsynonymous SNV	G6PD:NM_000402:exon6:c.C653T:p.S218F	Favism, Autosomal dominant;Hemolytic anemia due to G6PD deficiency, X-linked recessive	YES	1	1326	123	72	0	267	0.0914697	.	.	25407	G6PD-related_disorder|G6PD_deficient_hemolytic_anemia|Inborn_genetic_diseases|Hemolytic_anemia,_G6PD_deficient_(favism)|Malaria,_susceptibility_to|Anemia,_nonspherocytic_hemolytic,_due_to_G6PD_deficiency|See_cases|G6PD_CAGLIARI|G6PD_deficiency|G6PD_MEDITERRANEAN|G6PD_SASSARI|not_provided	.|.|MeSH:D030342,MedGen:C0950123|.|MONDO:MONDO:0021024,MedGen:C1970028,OMIM:611162,Orphanet:673|MONDO:MONDO:0010480,MedGen:C2720289,OMIM:300908,Orphanet:466026|.|.|MONDO:MONDO:0005775,MedGen:C2939465|.|.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Pathogenic/Likely_pathogenic	.	.	.	.	.	.	.	.	0.04	D	0.022	B	0.039	B	0.000	D	1.000	D	3.015	M	-4.87	D	0.957	D	0.933	D	0.809	3.643	18.52	5.65	2.361	6.312	15.929	0.811	.	0.0007	0.000794702	0.0027	0.0004	0.0006	0	0	0.0011	0.0112	0.0160	0.0024838	384	154602	rs5030868	0.0015	0.0015	0.0011	0.0023	0.0435	0.0014	0.0014	0.0383	0.0363	0.0003	2.842e-05	0.0055	0	0	0.0435	0.0002	0.0032	0.0189	0.0007	0.0008	0.0006	0.0011	0.0149	0.0006	0.0005	0.0113	0.0100	0.0001	0	0	0.0060	0	0	0.0138	0.0002	0.0046	0.0149	0.017	0.52492	D	0.008	0.67890	D	0.022	0.18677	B	0.039	0.23607	B	0.000101	0.50451	D	0.177639	1	0.81001	D	3.42	0.91902	M	-4.87	0.98279	D	-4.22	0.75935	D	0.562	0.70615	0.957	0.96492	D	0.933	0.97805	D	10	0.012398928	0.00267	T	.	.	.	0.811	0.93892	.	.	0.989763325404	0.98964	0.927394258905308	0.92717	0.202134561341	0.22635	0.361571013927	0.19615	T	0.958441	0.99448	D	0.148364	0.69115	D	0.453964	0.93676	D	0.128705447749552	0.15261	T	0.953605	0.82399	D	0.90304965	0.91658	0.8944889	0.94585	0.9519563	0.96465	0.8714105	0.92964	-11.526	0.83968	D	0.6452008465600814	0.71653	0.361	0.69938	A	.;.;.;.;.;.;.	.;.;.;.;.;.;.	3.714215	0.53042	23.3	0.99560193252273865	0.71707	0.94225	0.60494	D	AEFGBCI	.	.	.	.	.	.	.	.	.	0.999999999999995	0.74766	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.65	5.65	0.86881	5.542000	0.66927	9.812000	0.81753	0.672000	0.70159	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:0.0:1.0:0.0	15.929	0.79431	80	0.96670	Glucose-6-phosphate dehydrogenase, NAD-binding;Glucose-6-phosphate dehydrogenase, NAD-binding;Glucose-6-phosphate dehydrogenase, NAD-binding;.;Glucose-6-phosphate dehydrogenase, NAD-binding;Glucose-6-phosphate dehydrogenase, NAD-binding;Glucose-6-phosphate dehydrogenase, NAD-binding	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	2242.98	35	chrX	154534419	.	G	A	2242.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.46;DP=877;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.38;ReadPosRankSum=0.624;SOR=0.746	GT:AD:DP:GQ:PL	0/1:70,86:156:99:2257,0,1672	20	0	1	0