Chr	Start	End	Ref	Alt	Func.refGene	Gene.refGene	GeneDetail.refGene	ExonicFunc.refGene	AAChange.refGene	Xref.refGene	NC_fgh	WT_fgh	HZ_fgh	HH_fgh	Other_fgh	FGH_1522	FGH_MAF	dbscSNV_ADA_SCORE	dbscSNV_RF_SCORE	Maybe_Pathogenic	CLNALLELEID	CLNDN	CLNDISDB	CLNREVSTAT	CLNSIG	ONCDN	ONCDISDB	ONCREVSTAT	ONC	SCIDN	SCIDISDB	SCIREVSTAT	SCI	REVEL	MCAP	esp6500siv2_all	1000g2015aug_all	ExAC_ALL	ExAC_AFR	ExAC_AMR	ExAC_EAS	ExAC_FIN	ExAC_NFE	ExAC_OTH	ExAC_SAS	Kaviar_AF	Kaviar_AC	Kaviar_AN	avsnp151	gnomad41_exome_AF	gnomad41_exome_AF_raw	gnomad41_exome_AF_XX	gnomad41_exome_AF_XY	gnomad41_exome_AF_grpmax	gnomad41_exome_faf95	gnomad41_exome_faf99	gnomad41_exome_fafmax_faf95_max	gnomad41_exome_fafmax_faf99_max	gnomad41_exome_AF_afr	gnomad41_exome_AF_amr	gnomad41_exome_AF_asj	gnomad41_exome_AF_eas	gnomad41_exome_AF_fin	gnomad41_exome_AF_mid	gnomad41_exome_AF_nfe	gnomad41_exome_AF_remaining	gnomad41_exome_AF_sas	gnomad41_genome_AF	gnomad41_genome_AF_raw	gnomad41_genome_AF_XX	gnomad41_genome_AF_XY	gnomad41_genome_AF_grpmax	gnomad41_genome_faf95	gnomad41_genome_faf99	gnomad41_genome_fafmax_faf95_max	gnomad41_genome_fafmax_faf99_max	gnomad41_genome_AF_afr	gnomad41_genome_AF_ami	gnomad41_genome_AF_amr	gnomad41_genome_AF_asj	gnomad41_genome_AF_eas	gnomad41_genome_AF_fin	gnomad41_genome_AF_mid	gnomad41_genome_AF_nfe	gnomad41_genome_AF_remaining	gnomad41_genome_AF_sas	SIFT_score	SIFT_converted_rankscore	SIFT_pred	SIFT4G_score	SIFT4G_converted_rankscore	SIFT4G_pred	Polyphen2_HDIV_score	Polyphen2_HDIV_rankscore	Polyphen2_HDIV_pred	Polyphen2_HVAR_score	Polyphen2_HVAR_rankscore	Polyphen2_HVAR_pred	LRT_score	LRT_converted_rankscore	LRT_pred	LRT_Omega	MutationTaster_score	MutationTaster_converted_rankscore	MutationTaster_pred	MutationAssessor_score	MutationAssessor_rankscore	MutationAssessor_pred	FATHMM_score	FATHMM_converted_rankscore	FATHMM_pred	PROVEAN_score	PROVEAN_converted_rankscore	PROVEAN_pred	VEST4_score	VEST4_rankscore	MetaSVM_score	MetaSVM_rankscore	MetaSVM_pred	MetaLR_score	MetaLR_rankscore	MetaLR_pred	Reliability_index	MetaRNN_score	MetaRNN_rankscore	MetaRNN_pred	M-CAP_score	M-CAP_rankscore	M-CAP_pred	REVEL_score	REVEL_rankscore	MutPred_score	MutPred_rankscore	MVP_score	MVP_rankscore	gMVP_score	gMVP_rankscore	MPC_score	MPC_rankscore	PrimateAI_score	PrimateAI_rankscore	PrimateAI_pred	DEOGEN2_score	DEOGEN2_rankscore	DEOGEN2_pred	BayesDel_addAF_score	BayesDel_addAF_rankscore	BayesDel_addAF_pred	BayesDel_noAF_score	BayesDel_noAF_rankscore	BayesDel_noAF_pred	ClinPred_score	ClinPred_rankscore	ClinPred_pred	LIST-S2_score	LIST-S2_rankscore	LIST-S2_pred	VARITY_R_score	VARITY_R_rankscore	VARITY_ER_score	VARITY_ER_rankscore	VARITY_R_LOO_score	VARITY_R_LOO_rankscore	VARITY_ER_LOO_score	VARITY_ER_LOO_rankscore	ESM1b_score	ESM1b_rankscore	ESM1b_pred	EVE_score	EVE_rankscore	AlphaMissense_score	AlphaMissense_rankscore	AlphaMissense_pred	Aloft_pred	Aloft_Confidence	CADD_raw	CADD_raw_rankscore	CADD_phred	DANN_score	DANN_rankscore	fathmm-MKL_coding_score	fathmm-MKL_coding_rankscore	fathmm-MKL_coding_pred	fathmm-MKL_coding_group	fathmm-XF_coding_score	fathmm-XF_coding_rankscore	fathmm-XF_coding_pred	Eigen-raw_coding	Eigen-raw_coding_rankscore	Eigen-phred_coding	Eigen-PC-raw_coding	Eigen-PC-raw_coding_rankscore	Eigen-PC-phred_coding	GenoCanyon_score	GenoCanyon_rankscore	integrated_fitCons_score	integrated_fitCons_rankscore	integrated_confidence_value	GM12878_fitCons_score	GM12878_fitCons_rankscore	GM12878_confidence_value	H1-hESC_fitCons_score	H1-hESC_fitCons_rankscore	H1-hESC_confidence_value	HUVEC_fitCons_score	HUVEC_fitCons_rankscore	HUVEC_confidence_value	LINSIGHT	LINSIGHT_rankscore	GERP++_NR	GERP++_RS	GERP++_RS_rankscore	phyloP100way_vertebrate	phyloP100way_vertebrate_rankscore	phyloP470way_mammalian	phyloP470way_mammalian_rankscore	phyloP17way_primate	phyloP17way_primate_rankscore	phastCons100way_vertebrate	phastCons100way_vertebrate_rankscore	phastCons470way_mammalian	phastCons470way_mammalian_rankscore	phastCons17way_primate	phastCons17way_primate_rankscore	SiPhy_29way_pi	SiPhy_29way_logOdds	SiPhy_29way_logOdds_rankscore	bStatistic	bStatistic_converted_rankscore	Interpro_domain	GTEx_V8_eQTL_gene	GTEx_V8_eQTL_tissue	GTEx_V8_sQTL_gene	GTEx_V8_sQTL_tissue	eQTLGen_snp_id	InterVar_automated	PVS1	PS1	PS2	PS3	PS4	PM1	PM2	PM3	PM4	PM5	PM6	PP1	PP2	PP3	PP4	PP5	BA1	BS1	BS2	BS3	BS4	BP1	BP2	BP3	BP4	BP5	BP6	BP7	GME_AF	GME_NWA	GME_NEA	GME_AP	GME_Israel	GME_SD	GME_TP	GME_CA	Otherinfo1	Otherinfo2	Otherinfo3	Otherinfo4	Otherinfo5	Otherinfo6	Otherinfo7	Otherinfo8	Otherinfo9	Otherinfo10	Otherinfo11	Otherinfo12	NSWES973-M	WT	HH	HZ	NC
chr1	1043440	1043440	C	T	exonic	AGRN	.	nonsynonymous SNV	AGRN:NM_198576:exon8:c.C1586T:p.A529V	Myasthenic syndrome, congenital, 8, with pre- and postsynaptic defects, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	731516	Congenital_myasthenic_syndrome_8	MONDO:MONDO:0014052,MedGen:C3808739,OMIM:615120,Orphanet:590	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.018	0.014510625916	.	.	0.0002	0	0.0025	0	0	0	0	6.842e-05	0.0001682	26	154602	rs752221979	3.921e-05	4.446e-05	3.97e-05	3.871e-05	0.0011	3.064e-05	2.798e-05	0.0009	0.0008	0	0.0011	0	2.528e-05	0	0	3.602e-06	1.661e-05	1.165e-05	3.945e-05	3.941e-05	5.142e-05	2.691e-05	0.0003	1.716e-05	1.13e-05	0.0001	8.291e-05	0	0	0.0003	0	0.0002	0	0	0	0	0	0.303	0.14352	T	0.285	0.21678	T	.	.	.	.	.	.	0.504560	0.11911	N	0.733937	1	0.08975	N	0.29	0.10111	N	3.82	0.03728	T	-0.48	0.15379	N	0.269	0.30461	-0.9371	0.43072	T	0.006	0.01981	T	10	0.023920357	0.00641	T	0.014511	0.34674	T	0.018	0.03083	0.447	0.50629	0.33110744837	0.32714	0.4411714352499868	0.44034	0.453621968421	0.45050	0.369141459465	0.20709	T	.	.	.	-0.648964	0.00073	T	-0.735047	0.04102	T	0.0311467908591942	0.02169	T	0.788921	0.42853	T	.	.	.	.	.	.	.	.	-5.736	0.44013	T	.	.	0.090	0.12655	B	.;.	.;.	3.269019	0.44742	22.0	0.93234456577525671	0.22917	0.13493	0.17887	N	AEFBI	0.119895	0.23381	N	-0.96870823422866	0.09277	0.4384124	-1.00181021400321	0.09745	0.4866528	0.124909482756046	0.16968	0.732398	0.92422	0	0.743671	0.97443	0	0.723109	0.80598	0	0.613276	0.41899	0	.	.	4.76	0.52	0.16237	0.235000	0.17727	2.118000	0.30702	-0.197000	0.09056	0.001000	0.13787	0.971000	0.29754	0.014000	0.10232	0.2495:0.3003:0.1158:0.3344	0.594	0.00685	940	0.13648	.;Kazal domain|Kazal domain|Kazal domain	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.05	1632.43	144	chr1	1043440	.	C	T	1632.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=4.42;DP=574;ExcessHet=0;FS=1.343;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.34;ReadPosRankSum=1.22;SOR=0.625	GT:AD:DP:GQ:PL	0/1:87,57:144:99:1644,0,2186	9	0	1	0
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	not_provided|Inborn_genetic_diseases|Congenital_myasthenic_syndrome_8	MedGen:C3661900|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0014052,MedGen:C3808739,OMIM:615120,Orphanet:590	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	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	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002575	0.005495	0.001374	0.000000	0.000000	0.000000	0.003165	0.007634	0.05	1325.43	81	chr1	1048170	.	G	A	1325.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.14;DP=465;ExcessHet=0;FS=4.336;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=16.36;ReadPosRankSum=-1.982;SOR=0.581	GT:AD:DP:GQ:PL	0/1:34,47:81:99:1337,0,861	9	0	1	0
chr1	1626987	1626987	C	T	exonic	MIB2	.	nonsynonymous SNV	MIB2:NM_001170688:exon9:c.C1378T:p.R460W,MIB2:NM_001170689:exon9:c.C1033T:p.R345W,MIB2:NM_001170686:exon10:c.C1390T:p.R464W,MIB2:NM_001170687:exon10:c.C1360T:p.R454W,MIB2:NM_080875:exon10:c.C1402T:p.R468W	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.117	0.095674869831	.	0.000199681	0.0001	0.0003	0.0001	0.0003	0.0003	3.684e-05	0	0.0001	7.12e-05	11	154602	rs542956464	2.742e-05	2.805e-05	1.773e-05	3.72e-05	0.0002	2.066e-05	1.819e-05	8.906e-05	7.069e-05	8.965e-05	2.245e-05	0	0.0001	1.928e-05	0.0002	1.17e-05	4.977e-05	0.0002	5.909e-05	5.905e-05	3.854e-05	8.056e-05	0.0006	3.075e-05	2.208e-05	0.0002	8.384e-05	9.622e-05	0	6.534e-05	0	0.0006	0	0	1.47e-05	0	0	0.016	0.78490	D	0.011	0.64786	D	0.998	0.73220	D	0.849	0.60615	P	0.017821	0.27632	N	0.352028	0.857481	0.29443	N	.	.	.	1.25	0.66652	T	-4.12	0.76414	D	0.28	0.34444	-0.5589	0.66446	T	0.240	0.60845	T	10	0.12728488	0.24204	T	0.095675	0.76471	D	0.167	0.42761	.	.	0.710848232195	0.70832	0.5758991941548679	0.57518	0.0895406292479	0.10117	0.656515002251	0.60912	T	.	.	.	-0.245333	0.14675	T	-0.289857	0.45787	T	0.272659331560135	0.23861	T	0.957038	0.86259	D	.	.	.	.	.	.	.	.	-10.775	0.80764	D	.	.	0.146	0.38941	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	2.621020	0.34058	19.52	0.99630737450825935	0.76020	0.78438	0.38698	D	AEFDBI	0.812622	0.73530	D	-0.302169337363344	0.29067	1.608593	-0.350016306211927	0.26508	1.464658	0.984877804448227	0.30789	0.634777	0.41761	0	0.643519	0.57511	0	0.723109	0.80598	0	0.699875	0.68795	0	.	.	4.59	-2.43	0.06145	0.022000	0.13402	0.217000	0.16029	-0.165000	0.11486	0.270000	0.25046	0.656000	0.25990	0.853000	0.40368	0.8529:0.1471:0.0:0.0	16.175	0.81659	809	0.43032	.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001515	0.000000	0.000000	0.000000	0.000000	0.008621	0.000000	0.003788	0.05	2107.43	164	chr1	1626987	.	C	T	2107.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=4.2;DP=509;ExcessHet=0;FS=0.576;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.85;ReadPosRankSum=-0.763;SOR=0.61	GT:AD:DP:GQ:PL	0/1:87,77:164:99:2119,0,1930	9	0	1	0
chr1	2406784	2406784	C	G	exonic	PEX10	.	nonsynonymous SNV	PEX10:NM_001374425:exon4:c.G769C:p.G257R,PEX10:NM_001374426:exon4:c.G337C:p.G113R,PEX10:NM_001374427:exon4:c.G280C:p.G94R,PEX10:NM_002617:exon4:c.G712C:p.G238R,PEX10:NM_153818:exon4:c.G772C:p.G258R	Peroxisome biogenesis disorder 6A (Zellweger), Autosomal recessive;Peroxisome biogenesis disorder 6B, Autosomal recessive	0	1495	26	1	0	28	0.00927767	.	.	YES	194546	PEX10-related_disorder|Peroxisome_biogenesis_disorder_6A_(Zellweger)|not_provided|Zellweger_spectrum_disorders|Peroxisome_biogenesis_disorder_6B|Peroxisome_biogenesis_disorder,_complementation_group_7	.|MONDO:MONDO:0013936,MedGen:C3553947,OMIM:614870,Orphanet:912|MedGen:C3661900|MONDO:MONDO:0019609,MedGen:C0043459,Orphanet:912|MONDO:MONDO:0013937,MedGen:C3553948,OMIM:614871,Orphanet:44|MedGen:C1864399	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.343	0.178476205058	0.0010	0.00179712	0.0015	0.0003	0.0018	0	0	0.0021	0.0046	0.0004	0.0011513	178	154602	rs61736380	0.0011	0.0011	0.0011	0.0012	0.0080	0.0011	0.0011	0.0061	0.0055	0.0002	0.0014	0.0021	2.525e-05	0.0003	0.0080	0.0012	0.0015	0.0005	0.0014	0.0014	0.0012	0.0016	0.0021	0.0012	0.0012	0.0018	0.0017	0.0002	0.0219	0.0009	0.0020	0	0.0006	0.0068	0.0021	0.0033	0.0008	0.191	0.21066	T	0.106	0.39492	T	0.823	0.50672	P	0.498	0.50679	P	0.001488	0.38855	N	0.327536	0.947171	0.26608	N	2.2	0.62015	M	-1.48	0.81150	T	-1.21	0.30762	N	0.31	0.37405	-0.4718	0.69662	T	0.422	0.76657	T	10	0.010670394	0.00236	T	0.178476	0.85359	D	0.343	0.66488	.	.	0.841721472804	0.84021	0.5729844307713985	0.57226	0.219882442572	0.24531	0.394138902426	0.24251	T	0.146469	0.48408	T	-0.357986	0.04245	T	-0.29099	0.45671	T	0.0376728540169256	0.03274	T	0.927507	0.73308	D	0.057615306	0.11489	0.07020275	0.14886	0.057615306	0.11488	0.07020275	0.14886	-6.902	0.54027	T	0.21305723523911807	0.28600	0.257	0.49216	B	.;.;.	.;.;.	1.683752	0.21456	15.21	0.98928848122039481	0.48713	0.80498	0.40120	D	AEFDBHCI	0.295790	0.40582	N	-0.0912055269759382	0.37778	2.203	-0.16806200514842	0.32720	1.864289	0.99997250291566	0.50053	0.67177	0.52595	0	0.643519	0.57511	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.02	-0.228	0.12452	0.469000	0.21779	-4.311000	0.02224	0.599000	0.40250	0.999000	0.42656	0.000000	0.08366	0.183000	0.21389	0.0:0.4115:0.0:0.5885	8.870	0.34465	917	0.20147	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	1	0	0	1	0	0	0	0.004053	0.000000	0.005450	0.005882	0.000000	0.008772	0.009259	0.000000	0.1	2726.14	127	chr1	2406784	.	C	G	2726.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=0.132;DP=526;ExcessHet=0.2348;FS=0.469;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=11.36;ReadPosRankSum=0.369;SOR=0.635	GT:AD:DP:GQ:PL	0/1:64,63:127:99:1524,0,1541	8	0	2	0
chr1	7786781	7786781	T	C	exonic	PER3	.	nonsynonymous SNV	PER3:NM_001289861:exon4:c.T335C:p.M112T,PER3:NM_001289862:exon4:c.T335C:p.M112T,PER3:NM_001289863:exon4:c.T335C:p.M112T,PER3:NM_001377275:exon4:c.T335C:p.M112T,PER3:NM_001377276:exon4:c.T335C:p.M112T,PER3:NM_016831:exon4:c.T335C:p.M112T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.008	0.00850871884553	.	.	1.647e-05	0	0	0	0	1.499e-05	0	6.056e-05	1.29e-05	2	154602	rs760594236	1.849e-05	1.847e-05	1.908e-05	1.789e-05	2.319e-05	1.266e-05	1.085e-05	1.545e-05	1.306e-05	0	0	0	0	0	0	2.251e-05	0	2.319e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.03685	T	0.828	0.04507	T	0.009	0.29645	B	0.023	0.24975	B	0.094924	0.02491	N	2.100090	1	0.08975	N	-0.49	0.02651	N	1.66	0.27486	T	1.13	0.01182	N	0.068	0.12770	-1.0430	0.16413	T	0.018	0.07706	T	10	0.03725478	0.02070	T	0.008509	0.22507	T	0.008	0.00669	0.322	0.30226	0.158396225186	0.15383	0.24951558320620143	0.24865	0.161994770066	0.18274	0.269748747349	0.06108	T	0.006247	0.22404	T	-0.44151	0.01267	T	-0.775121	0.02603	T	0.0428138561865752	0.04203	T	0.492351	0.15167	T	0.017424915	0.00272	0.03392133	0.02369	0.017424915	0.00272	0.03392133	0.02369	-3.892	0.24162	T	0.11394793921769475	0.10028	0.062	0.02257	B	.;.;.;.;.	.;.;.;.;.	-1.114445	0.00623	0.016	0.20681587895211523	0.00754	0.00955	0.03671	N	AEFDBI	0.031224	0.03291	N	-1.86785199599332	0.00399	0.01717225	-1.93419955585819	0.00418	0.01850204	0.999999955021923	0.74766	0.732398	0.92422	0	0.588015	0.36545	0	0.743671	0.96076	0	0.567892	0.33627	0	.	.	4.32	-8.64	0.00758	-3.093000	0.00669	-5.486000	0.01701	-0.123000	0.13640	0.000000	0.06391	0.000000	0.08366	0.205000	0.22041	0.1909:0.4018:0.1927:0.2146	2.602	0.04573	726	0.54788	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	847.43	108	chr1	7786781	.	T	C	847.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.299;DP=422;ExcessHet=0;FS=0.785;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=7.85;ReadPosRankSum=0.098;SOR=0.538	GT:AD:DP:GQ:PL	0/1:67,41:108:99:859,0,1820	9	0	1	0
chr1	7786835	7786835	C	T	exonic	PER3	.	nonsynonymous SNV	PER3:NM_001289861:exon4:c.C389T:p.T130I,PER3:NM_001289862:exon4:c.C389T:p.T130I,PER3:NM_001289863:exon4:c.C389T:p.T130I,PER3:NM_001377275:exon4:c.C389T:p.T130I,PER3:NM_001377276:exon4:c.C389T:p.T130I,PER3:NM_016831:exon4:c.C389T:p.T130I	.	.	.	.	.	.	.	.	0.9010	0.616	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.216	0.037990185743	.	.	8.259e-06	0	0	0	0	0	0	6.098e-05	6.5e-06	1	154602	rs754416675	1.423e-06	4.792e-06	0	2.848e-06	2.352e-05	2.4e-07	9e-08	3.9e-06	1.46e-06	0	0	0	0	0	0	0	0	2.352e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.016	0.61437	D	0.011	0.74150	D	1.0	0.90584	D	0.988	0.77976	D	0.000006	0.62929	D	0.062592	0.996497	0.43237	D	2.83	0.82355	M	1.42	0.33189	T	-4.14	0.75776	D	0.706	0.72388	-0.7217	0.59379	T	0.189	0.53960	T	10	0.60818666	0.67294	D	0.03799	0.57951	D	0.216	0.50959	0.375	0.38830	0.686309345283	0.68362	0.5604255778456886	0.55969	0.407735016949	0.41623	0.533929228783	0.43588	T	0.118196	0.68893	T	-0.110681	0.34656	T	-0.296132	0.45132	T	0.977452874183655	0.71852	D	0.924807	0.72410	D	0.38104415	0.59392	0.26627868	0.52471	0.38104415	0.59392	0.26627868	0.52470	-8.791	0.66342	D	0.8248383061539777	0.89702	0.348	0.60448	A	.;.;.;.;.	.;.;.;.;.	4.545845	0.71494	25.7	0.99876829207549866	0.95328	0.93810	0.59256	D	AEFDBI	0.323429	0.42562	N	0.590369860033289	0.72572	5.827057	0.515004505120998	0.68997	5.298117	0.999982184032036	0.51787	0.651	0.46895	0	0.588015	0.36545	0	0.65145	0.50148	0	0.567892	0.33627	0	.	.	4.31	4.31	0.50718	1.233000	0.32250	3.443000	0.38394	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.1621:0.8379:0.0:0.0	12.943	0.57754	726	0.54788	PAS domain;.;PAS domain;.;PAS domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	358.43	63	chr1	7786835	.	C	T	358.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.523;DP=378;ExcessHet=0;FS=1.265;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=5.69;ReadPosRankSum=-0.308;SOR=0.42	GT:AD:DP:GQ:PL	0/1:47,16:63:99:370,0,1454	9	0	1	0
chr1	7933282	7933282	T	C	exonic	TNFRSF9	.	nonsynonymous SNV	TNFRSF9:NM_001561:exon7:c.A559G:p.I187V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009	0.00270495129526	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	1.0	0.06147	T	0.002	0.09854	B	0.001	0.04355	B	0.030551	0.01722	N	2.226600	1	0.08975	N	0.22	0.09567	N	3.34	0.38883	T	-0.08	0.08187	N	0.064	0.03613	-0.9649	0.38230	T	0.008	0.02926	T	10	0.039113462	0.02377	T	0.002705	0.05550	T	0.009	0.00846	0.276	0.22845	0.0954503805726	0.09146	0.14244755294639133	0.14167	0.0755766024316	0.08479	0.303215026855	0.10881	T	0.091535	0.38816	T	-0.396887	0.02426	T	-0.807877	0.01713	T	0.0528059709509316	0.05985	T	0.343166	0.08297	T	0.014398486	0.00092	0.024658427	0.00489	0.014398486	0.00092	0.024658427	0.00489	-3.107	0.11376	T	.	.	0.082	0.20117	B	.;.;.	.;.;.	-2.656894	0.00022	0.001	0.31864493878579497	0.01817	0.00640	0.02800	N	AEFBI	0.053752	0.09712	N	-1.55403076293908	0.01511	0.06599016	-1.62642963533454	0.01502	0.06801238	0.1723792661722	0.17755	0.554377	0.28877	0	0.588066	0.40923	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	4.43	-6.6	0.01657	-4.246000	0.00304	-7.248000	0.01198	-0.123000	0.13640	0.000000	0.06391	0.000000	0.08366	0.131000	0.19607	0.269:0.3775:0.1367:0.2167	1.562	0.02441	804	0.43891	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.3571	308.22	27	chr1	7933282	.	T	C	308.22	.	AC=5;AF=0.357;AN=14;BaseQRankSum=-0.686;DP=268;ExcessHet=3.8694;FS=112.452;InbreedingCoeff=-0.418;MLEAC=6;MLEAF=0.429;MQ=60;MQRankSum=0;QD=1.88;ReadPosRankSum=0.235;SOR=7.65	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:19,8:27:90:.:.:90,0,248:.	2	0	5	3
chr1	11042883	11042883	G	A	exonic	MASP2	.	nonsynonymous SNV	MASP2:NM_006610:exon6:c.C881T:p.T294M	MASP2 deficiency, Autosomal recessive	0	1472	50	0	0	50	0.0167001	.	.	.	731568	not_provided|Immunodeficiency_due_to_MASP-2_deficiency|MASP2-related_disorder	MedGen:C3661900|MONDO:MONDO:0013423,MedGen:C3151085,OMIM:613791,Orphanet:331187|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.053	.	0.0028	0.00459265	0.0063	0.0021	0.0007	0	0.0251	0.0047	0.0133	0.0147	0.005705	882	154602	rs139962539	0.0055	0.0055	0.0051	0.0059	0.0159	0.0054	0.0054	0.0152	0.0149	0.0017	0.0011	0.0008	2.519e-05	0.0248	0.0104	0.0044	0.0052	0.0159	0.0055	0.0056	0.0040	0.0072	0.0143	0.0052	0.0051	0.0116	0.0106	0.0020	0.0022	0.0018	0.0006	0.0004	0.0326	0	0.0044	0.0043	0.0143	0.037	0.43085	D	0.008	0.67890	D	0.037	0.20876	B	0.028	0.21332	B	0.661655	0.10422	N	0.807051	0.825838	0.28824	N	2.015	0.55033	M	1.93	0.22881	T	-3.03	0.62747	D	0.17	0.18103	-0.9860	0.33590	T	0.035	0.15247	T	10	0.005970478	0.00134	T	.	.	.	0.053	0.14996	.	.	0.124217242631	0.12060	0.5123346054005095	0.51155	0.0407694351807	0.04372	0.255066126585	0.04321	T	0.167891	0.51469	T	-0.611316	0.00124	T	-0.638566	0.09773	T	0.0146837639690297	0.00305	T	0.690331	0.29972	T	0.03418397	0.03786	0.09641339	0.22907	0.030420668	0.02701	0.09641339	0.22906	-11.434	0.81985	D	0.4720342199219044	0.55229	0.102	0.18037	B	.	.	2.248819	0.28726	17.89	0.97414839808571385	0.33845	0.15784	0.19080	N	AEFDBI	0.195519	0.32255	N	-0.793140772280534	0.13488	0.6648029	-0.872054223652638	0.12758	0.6581308	0.0132704450316949	0.12441	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.542086	0.14980	0	.	.	4.32	-3.97	0.03821	0.362000	0.20020	-0.877000	0.07079	0.613000	0.49114	0.118000	0.23139	0.000000	0.08366	0.993000	0.69303	0.1689:0.2911:0.3291:0.2109	1.868	0.03007	804	0.43891	CUB domain|CUB domain|CUB domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.011581	0.000000	0.006793	0.011696	0.050000	0.025862	0.012195	0.018939	0.1	2786.12	88	chr1	11042883	.	G	A	2786.12	.	AC=2;AF=0.1;AN=20;DP=419;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.1;MQ=60;QD=31.66;SOR=0.997	GT:AD:DP:GQ:PL	1/1:0,88:88:99:2809,264,0	9	1	0	0
chr1	11087492	11087492	T	C	exonic	EXOSC10	.	nonsynonymous SNV	EXOSC10:NM_001001998:exon9:c.A1045G:p.M349V,EXOSC10:NM_002685:exon9:c.A1045G:p.M349V	.	427	1087	8	0	0	8	0.00366636	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.230	0.0364904891881	7.7e-05	0.000399361	0.0004	0	8.637e-05	0	0	0.0001	0	0.0027	0.0003752	58	154602	rs146890007	0.0002	0.0002	0.0001	0.0002	0.0026	0.0002	0.0002	0.0023	0.0022	0	0	3.826e-05	0	0	0.0010	1.978e-05	0.0003	0.0026	9.854e-05	9.843e-05	5.141e-05	0.0001	0.0017	6.005e-05	4.879e-05	0.0008	0.0006	0	0	0	0	0	9.429e-05	0	8.823e-05	0	0.0017	0.006	0.61437	D	0.016	0.60972	D	0.364	0.38591	B	0.209	0.41528	B	0.000000	0.84330	D	0.147556	1	0.81001	D	0.785	0.19527	N	0.06	0.61798	T	-2.16	0.48850	N	0.712	0.73285	-0.8662	0.50812	T	0.162	0.49748	T	10	0.03906077	0.02369	T	0.03649	0.57022	D	0.230	0.53062	.	.	0.621920094586	0.61885	0.684729131877017	0.68411	0.394715693459	0.40623	0.487404584885	0.37079	T	0.291899	0.66464	T	-0.337369	0.05572	T	-0.26231	0.48592	T	0.0714578982348742	0.08855	T	0.946705	0.79780	D	0.633107	0.74464	0.45901313	0.68571	0.633107	0.74465	0.45901313	0.68571	-10.595	0.77454	D	.	.	0.192	0.41109	B	.;.	.;.	2.879338	0.38101	20.7	0.95734323371532648	0.27679	0.93688	0.58908	D	AEFBI	0.365352	0.45356	N	-0.205138814815498	0.32921	1.862097	-0.0743594696767151	0.36454	2.121688	0.185947040380225	0.17937	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	6.07	3.78	0.42629	0.653000	0.24588	3.060000	0.36156	-0.169000	0.11342	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.1068:0.0:0.1509:0.7423	9.385	0.37501	410	0.82135	.;3'-5' exonuclease domain|3'-5' exonuclease domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002014	0.000000	0.000000	0.000000	0.050000	0.000000	0.003049	0.007576	0.05	1932.43	173	chr1	11087492	.	T	C	1932.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.957;DP=482;ExcessHet=0;FS=1.875;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.17;ReadPosRankSum=-0.565;SOR=0.686	GT:AD:DP:GQ:PL	0/1:88,85:173:99:1944,0,2166	9	0	1	0
chr1	11535633	11535633	C	G	exonic	DISP3	.	nonsynonymous SNV	DISP3:NM_020780:exon20:c.C3805G:p.H1269D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.228	0.0173466592725	.	.	5.062e-05	0	0	0.0007	0	0	0	0	3.88e-05	6	154602	rs374112927	1.233e-05	1.231e-05	1.09e-05	1.377e-05	0.0002	7.71e-06	6.36e-06	8.198e-05	5.784e-05	2.987e-05	0	0	0.0002	0	0	2.699e-06	0	8.121e-05	2.629e-05	2.627e-05	1.285e-05	4.036e-05	0.0004	8.14e-06	5.14e-06	6.813e-05	2.852e-05	0	0	0	0	0.0004	0	0	1.47e-05	0	0.0002	0.819	0.02966	T	0.089	0.40426	T	0.003	0.11197	B	0.008	0.13708	B	0.021869	0.26746	N	0.378995	0.518726	0.31879	D	.	.	.	-2.58	0.89757	D	-0.99	0.26200	N	0.529	0.55799	-0.5796	0.65633	T	0.197	0.55229	T	10	0.1011188	0.18456	T	0.017347	0.39013	T	0.228	0.52768	0.196	0.10839	0.788021503808	0.78605	0.606082671430857	0.60539	0.508839714498	0.49031	0.416748404503	0.27390	T	0.008949	0.08179	T	-0.260838	0.12801	T	-0.249419	0.49873	T	0.0315953949871641	0.02241	T	0.630737	0.24588	T	0.15307242	0.34715	0.16444102	0.38093	0.15307242	0.34715	0.16444102	0.38092	-5.763	0.44250	T	.	.	0.092	0.13690	B	.	.	1.196751	0.15883	12.17	0.91401666896015865	0.20668	0.93189	0.57558	D	AEFDBI	0.319491	0.42288	N	0.204170273556412	0.51401	3.321639	0.2787462501481	0.54299	3.595423	0.9838027697499	0.30617	0.646311	0.45356	0	0.610034	0.51514	0	0.645312	0.48771	0	0.562822	0.20929	0	.	.	5.55	5.55	0.83298	1.859000	0.39058	0.844000	0.22071	0.599000	0.40250	0.915000	0.31815	0.128000	0.22971	0.588000	0.31090	0.0:1.0:0.0:0.0	18.477	0.90746	809	0.43032	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	644.43	50	chr1	11535633	.	C	G	644.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.892;DP=356;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.89;ReadPosRankSum=0.883;SOR=0.549	GT:AD:DP:GQ:PL	0/1:25,25:50:99:656,0,613	9	0	1	0
chr1	13392054	13392054	A	G	exonic	PRAMEF17	.	nonsynonymous SNV	PRAMEF17:NM_001099851:exon3:c.A977G:p.H326R	.	516	994	10	2	0	14	0.00699301	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.029	.	.	0.0117812	0.0036	0.0024	0.0009	0.0242	0.0069	0.0019	0.0029	0.0027	0.000511	79	154602	rs201711294	0.0069	0.0076	0.0068	0.0070	0.0151	0.0068	0.0067	0.0141	0.0137	0.0022	0.0054	0.0071	0.0151	0.0033	0.0061	0.0070	0.0074	0.0064	0.0061	0.0063	0.0062	0.0060	0.0216	0.0058	0.0056	0.0184	0.0171	0.0032	0	0.0046	0.0058	0.0216	0.0018	0.0136	0.0077	0.0081	0.0071	0.093	0.31532	T	0.097	0.39190	T	0.0	0.02946	B	0.001	0.04355	B	0.092828	0.02472	N	2.240520	1	0.08975	N	1.035	0.25616	L	0.88	0.46028	T	-0.76	0.21215	N	0.031	0.00770	-1.0157	0.25110	T	0.072	0.29163	T	10	0.009825498	0.00221	T	.	.	.	0.063	0.18251	.	.	0.043077524339	0.03247	0.18130215486668497	0.18049	2.10714713315	0.94902	0.454899847507	0.32613	T	0.019003	0.15217	T	-0.291561	0.09481	T	-0.656584	0.08499	T	0.000628241407612618	0.00006	T	0.178082	0.01750	T	0.04939237	0.08763	0.0354886	0.02809	0.04939237	0.08763	0.0354886	0.02809	-4.076	0.24935	T	.	.	0.089	0.12371	B	.	.	-1.143306	0.00591	0.015	0.54630063686015007	0.05176	0.00349	0.01801	N	AEFI	0.020138	0.00765	N	-1.08510837124282	0.06917	0.3197995	-1.17312534660475	0.06361	0.3059897	4.6023511843228E-5	0.03989	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.04	1.04	0.19220	-0.042000	0.12016	-2.926000	0.03223	-2.787000	0.00188	0.001000	0.13787	0.000000	0.08366	0.000000	0.00833	1.0:0.0:0.0:0.0	4.321	0.10456	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	0.015748	0.009804	0.012821	0.004902	0.000000	0.027273	0.017094	0.022936	0.05	2394.43	155	chr1	13392054	.	A	G	2394.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-3.051;DP=523;ExcessHet=0;FS=1.258;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=57.14;MQRankSum=-5.755;QD=15.45;ReadPosRankSum=-0.008;SOR=0.807	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:85,70:155:99:0|1:13392054_A_G:2406,0,3229:13392054	9	0	1	0
chr1	15445660	15445660	G	A	exonic	CTRC	.	nonsynonymous SNV	CTRC:NM_007272:exon7:c.G703A:p.V235I	.	415	1086	21	0	0	21	0.00957592	.	.	YES	277389	Hereditary_pancreatitis	MONDO:MONDO:0008185,MedGen:C0238339,OMIM:167800,Orphanet:676	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.797	0.138657935058	7.7e-05	0.00119808	0.0012	9.625e-05	0.0005	0	0	0.0003	0	0.0068	0.0009832	152	154602	rs140993290	0.0007	0.0007	0.0004	0.0009	0.0079	0.0006	0.0006	0.0074	0.0072	0.0003	0.0002	0.0005	0	3.744e-05	0.0050	0.0002	0.0005	0.0079	0.0005	0.0005	0.0003	0.0007	0.0083	0.0004	0.0004	0.0063	0.0056	9.624e-05	0	6.538e-05	0.0014	0.0002	0	0.0034	0.0003	0.0009	0.0083	0.006	0.61437	D	0.007	0.69154	D	0.996	0.68779	D	0.969	0.72001	D	0.000067	0.52346	D	0.126644	0.999064	0.81001	D	1.1	0.28011	L	-3.46	0.94508	D	-0.93	0.24898	N	0.524	0.55366	0.983	0.96904	D	0.897	0.96582	D	10	0.025823325	0.00765	T	0.138658	0.82115	D	0.797	0.93346	.	.	0.824012481446	0.82234	0.5726204761015677	0.57190	0.633953125668	0.57268	0.422646105289	0.28200	T	0.259948	0.63127	T	-0.0207142	0.48752	T	0.201614	0.83215	D	0.0184037413051345	0.00557	T	0.783522	0.42019	T	0.6675369	0.76301	0.7689695	0.86357	0.6858084	0.77285	0.71754605	0.83327	-10.422	0.76398	D	0.3872254015445177	0.48088	0.208	0.43448	B	.	.	4.622077	0.73408	26.0	0.99874658187836918	0.95160	0.96887	0.71481	D	AEFGBI	0.763965	0.70090	D	0.623640137267991	0.74673	6.172706	0.536749447529981	0.70482	5.51161	0.996679899047473	0.34917	0.553676	0.25195	0	0.573888	0.26702	0	0.602189	0.34648	0	0.620846	0.47308	0	.	.	4.38	4.38	0.52019	3.662000	0.54249	11.510000	0.92999	0.676000	0.76740	0.936000	0.32490	1.000000	0.68203	0.838000	0.39538	0.0:0.0:1.0:0.0	16.050	0.80559	917	0.20147	Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002014	0.000000	0.000000	0.005848	0.000000	0.008621	0.003049	0.003788	0.05	1482.43	111	chr1	15445660	.	G	A	1482.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.24;DP=453;ExcessHet=0;FS=1.537;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.36;ReadPosRankSum=-0.584;SOR=0.527	GT:AD:DP:GQ:PL	0/1:55,56:111:99:1494,0,1278	9	0	1	0
chr1	16563946	16563946	C	T	exonic	NBPF1	.	unknown	UNKNOWN	.	400	294	827	1	0	829	0.585039	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1105	.	0.2789	0.2174	0.2967	0.1361	0.3057	0.2989	0.2631	0.2918	0.0008473	131	154602	rs3863779	0.0001	0.0001	0.0003	0	0.0012	0	0	.	.	0	0	0	.	0	0	0	0	0.0012	0	0.0026	0	0	.	0	0	.	.	0	.	0	0	.	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0.336496	0.271084	0.351499	0.376068	0.277778	0.344828	0.297297	0.384000	0.5	19915.0	795	chr1	16563946	.	C	T	19915.0	.	AC=10;AF=0.5;AN=20;BaseQRankSum=-0.034;DP=5672;ExcessHet=22.563;FS=0;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=59.33;MQRankSum=-8.109;QD=3.62;ReadPosRankSum=0.15;SOR=0.707	GT:AD:DP:GQ:PL	0/1:709,86:795:99:647,0,21202	0	0	10	0
chr1	16563989	16563989	G	C	exonic	NBPF1	.	unknown	UNKNOWN	.	391	314	816	1	0	818	0.565698	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3891	0.2879	0.4120	0.2492	0.4146	0.4143	0.3885	0.3951	0.0044437	687	154602	rs12117084	0	0.0002	0	0	.	0	0	.	.	0	0	0	.	0	0	0	0	0	0.0016	0.0027	0.0029	0	0.0030	0	0	.	.	0	.	0	0	.	0	0	0.0030	0	0	.	.	.	0.03	0.54159	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.353	0.39457	.	.	.	.	.	.	.	0.0024681687	0.00037	T	.	.	.	.	.	.	.	.	.	0.02352237282194909	0.02304	.	.	0.575379014015	0.49435	T	.	.	.	-0.455599	0.01046	T	-0.892213	0.00559	T	.	.	.	0.687031	0.29593	T	.	.	.	.	.	.	.	.	-3.451	0.15752	T	.	.	0.172	0.37820	B	.	.	0.069283	0.04780	1.396	0.1972110124842818	0.00678	0.00975	0.03723	N	AEFDBCIJ	0.029075	0.02679	N	.	.	.	.	.	.	7.36511087105358E-4	0.07723	0.383005	0.05895	0	0.332388	0.05802	1	0.457825	0.06646	0	0.467017	0.07116	0	.	.	0.566	0.566	0.16501	-0.694000	0.05217	-10.261000	0.00721	-1.511000	0.01016	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	497	0.76227	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.358989	0.280488	0.387978	0.366379	0.277778	0.379310	0.324138	0.412000	0.5	25605.0	1089	chr1	16563989	.	G	C	25605.0	.	AC=10;AF=0.5;AN=20;BaseQRankSum=-0.602;DP=7782;ExcessHet=22.563;FS=0;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=59.72;MQRankSum=-3.519;QD=3.37;ReadPosRankSum=0.72;SOR=0.713	GT:AD:DP:GQ:PL	0/1:967,122:1089:99:618,0,27453	0	0	10	0
chr1	16564107	16564107	T	G	exonic	NBPF1	.	unknown	UNKNOWN	.	383	318	815	6	0	827	0.565277	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4042	0.4090	0.4331	0.2091	0.4092	0.4156	0.4105	0.4299	0.0114492	298	26028	rs2990551	0	0.0008	0	0	.	0	0	.	.	0	0	0	.	0	0	0	0	0	0	0.0042	0	0	.	0	0	.	.	0	.	0	0	.	0	.	0	0	0	.	.	.	0.218	0.26066	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.168	0.17828	.	.	.	.	.	.	.	0.005626291	0.00125	T	.	.	.	.	.	.	.	.	.	0.015489301517433041	0.01504	.	.	0.533775627613	0.43567	T	.	.	.	-0.499041	0.00579	T	-0.954615	0.00248	T	.	.	.	0.465553	0.17787	T	.	.	.	.	.	.	.	.	-2.062	0.03424	T	.	.	0.177	0.38676	B	.;.	.;.	-0.174163	0.03224	0.539	0.25431419136250621	0.01172	0.01395	0.04735	N	AEFDBHCI	0.031569	0.03403	N	.	.	.	.	.	.	7.84172557205885E-4	0.07810	0.383005	0.05895	0	2.97E-4	0.00021	3	0.155693	0.03940	1	0.393	0.06807	0	.	.	0.566	-0.849	0.10181	-0.576000	0.05947	-14.342000	0.00409	-0.599000	0.04621	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	497	0.76227	.;Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.364819	0.306250	0.372283	0.388889	0.187500	0.405172	0.335714	0.360000	0.35	27604.9	1046	chr1	16564107	.	T	G	27604.9	.	AC=7;AF=0.35;AN=20;BaseQRankSum=-1.873;DP=6880;ExcessHet=7.0302;FS=0;InbreedingCoeff=-0.5385;MLEAC=7;MLEAF=0.35;MQ=55.41;MQRankSum=4.65;QD=5.15;ReadPosRankSum=0.56;SOR=0.716	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:925,121:1046:99:.:.:624,0,36056:.	3	0	7	0
chr1	16564144	16564144	C	T	exonic	NBPF1	.	unknown	UNKNOWN	.	396	90	1031	5	0	1041	0.85258	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4583	0.3425	0.4588	0.4722	0.4820	0.4666	0.4640	0.4780	0.0474489	1235	26028	rs1043750	0.0010	0.0018	0.0014	0.0006	0.0011	0.0005	0.0004	0.0006	0.0004	0	0	0	.	0.0027	0	0.0011	0.0016	0	0	0.0038	0	0	.	0	0	.	.	.	.	0	.	.	0	.	0	.	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.428814	0.400000	0.425272	0.420168	0.375000	0.439655	0.440559	0.455645	0.5	51922.0	769	chr1	16564144	.	C	T	51922.0	.	AC=10;AF=0.5;AN=20;BaseQRankSum=-1.597;DP=5482;ExcessHet=22.563;FS=1.183;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=53.28;MQRankSum=-17.39;QD=9.75;ReadPosRankSum=-0.081;SOR=0.807	GT:AD:DP:GQ:PL	0/1:434,335:769:99:8680,0,13420	0	0	10	0
chr1	16564149	16564149	C	T	exonic	NBPF1	.	unknown	UNKNOWN	.	397	86	1030	9	0	1048	0.859016	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4934	0.4863	0.4979	0.4883	0.4979	0.4937	0.49	0.4947	0.0530967	1382	26028	rs2992339	0.0004	0.0011	0.0002	0.0006	0.0006	0.0001	8.492e-05	0.0002	0.0001	0	0	0	.	0	0	0.0006	0	0	0	0.0048	0	0	.	0	0	.	.	.	.	0	.	.	.	.	0	.	0	.	.	.	0.027	0.57587	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.142	0.14196	.	.	.	.	.	.	.	0.0017973781	0.00024	T	.	.	.	.	.	.	.	.	.	0.0179163774864188	0.01745	.	.	0.506860494614	0.39783	T	.	.	.	-0.443409	0.01235	T	-0.874703	0.00699	T	.	.	.	0.69743	0.33655	T	.	.	.	.	.	.	.	.	-6.206	0.47972	T	.	.	0.161	0.35519	B	.;.	.;.	1.213019	0.16064	12.29	0.62062331923232983	0.06867	0.00721	0.03037	N	AEFBCI	0.018716	0.00589	N	.	.	.	.	.	.	7.30078675238498E-5	0.04552	0.109238	0.02860	1	0.063085	0.00849	2	0.155693	0.03940	1	0.195052	0.04227	1	.	.	0.566	-0.824	0.10266	0.108000	0.15232	-3.220000	0.02960	0.312000	0.19173	0.030000	0.20431	0.000000	0.08366	0.016000	0.10718	.	.	.	497	0.76227	.;Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.483089	0.444444	0.491848	0.487395	0.375000	0.500000	0.478873	0.492000	0.45	38369.0	743	chr1	16564149	.	C	T	38369.0	.	AC=9;AF=0.45;AN=20;BaseQRankSum=0.237;DP=5102;ExcessHet=15.1594;FS=0;InbreedingCoeff=-0.8182;MLEAC=9;MLEAF=0.45;MQ=53.19;MQRankSum=6.51;QD=8.24;ReadPosRankSum=-0.21;SOR=0.699	GT:AD:DP:GQ:PL	0/1:616,127:743:99:2038,0,21814	1	0	9	0
chr1	16574541	16574541	G	A	exonic	NBPF1	.	unknown	UNKNOWN	.	377	1144	1	0	0	1	0.000436872	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00192525830407	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.871e-07	1.368e-06	1.368e-06	0	9.027e-07	0	0	.	.	0	0	0	0	0	0	9.027e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.041	0.59732	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.112	0.09914	.	.	.	.	.	.	.	0.09916836	0.17978	T	0.001925	0.03404	T	.	.	.	.	0.0138822411134	0.00435	0.0038890503007139483	0.00364	.	.	0.452292233706	0.32257	T	.	.	.	-0.322173	0.06721	T	-0.700555	0.05795	T	.	.	.	0.743326	0.36245	T	.	.	.	.	.	.	.	.	-5.208	0.39023	T	.	.	0.216	0.45024	B	.;.	.;.	1.040784	0.14214	10.79	0.19681274525298001	0.00675	0.00292	0.01564	N	AEFBI	0.038782	0.05538	N	.	.	.	.	.	.	8.06636627652658E-5	0.04552	0.360735	0.05675	0	0.346384	0.05893	0	0.292756	0.05521	0	0.370666	0.05837	0	.	.	0.626	-0.651	0.10879	-1.116000	0.03397	-9.992000	0.00752	-1.783000	0.00648	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	442	0.79946	.;Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	953.43	563	chr1	16574541	.	G	A	953.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=5.9;DP=1383;ExcessHet=0;FS=5.276;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=33.43;MQRankSum=1.49;QD=1.69;ReadPosRankSum=0.244;SOR=0.876	GT:AD:DP:GQ:PL	0/1:487,76:563:99:965,0,12987	9	0	1	0
chr1	16576361	16576361	C	A	exonic	NBPF1	.	unknown	UNKNOWN	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	2.053e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	898.19	520	chr1	16576361	.	C	A	898.19	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.403;DP=3305;ExcessHet=0.2348;FS=1.632;InbreedingCoeff=-0.1131;MLEAC=1;MLEAF=0.05;MQ=40.85;MQRankSum=-3.796;QD=1.02;ReadPosRankSum=0.721;SOR=0.917	GT:AD:DP:GQ:PL	0/1:421,75:520:99:856,0,10252	9	0	1	0
chr1	16577387	16577387	T	C	exonic	NBPF1	.	unknown	UNKNOWN	.	356	799	367	0	0	367	0.186768	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0434	.	0.2397	0.1662	0.2034	0.4259	0.2658	0.2330	0.2715	0.2199	0.0002523	39	154602	rs672812	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.293	0.20811	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.327	0.36779	.	.	.	.	.	.	.	0.0049095154	0.00105	T	.	.	.	.	.	.	.	.	.	0.02503941752049605	0.02454	.	.	0.530892848969	0.43161	T	.	.	.	-0.607731	0.00131	T	-1.11074	0.00022	T	.	.	.	0.820118	0.47860	T	.	.	.	.	.	.	.	.	-10.2	0.75100	D	.	.	0.175	0.38263	B	.;.	.;.	-0.632514	0.01485	0.092	0.32524367853212488	0.01889	0.00033	0.00296	N	AEFI	0.015988	0.00334	N	.	.	.	.	.	.	7.48439775225963E-5	0.04552	0.163922	0.03765	0	0.096583	0.02683	0	0.083675	0.02720	0	0.24341	0.04801	0	.	.	.	.	.	-0.192000	0.09585	-8.658000	0.00933	-0.551000	0.04898	0.005000	0.17040	0.000000	0.08366	0.005000	0.06747	.	.	.	444	0.79803	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.224339	0.196970	0.248641	0.200820	0.150000	0.232759	0.243902	0.206107	0.25	3929.15	330	chr1	16577387	.	T	C	3929.15	.	AC=5;AF=0.25;AN=20;BaseQRankSum=1.94;DP=2502;ExcessHet=2.8389;FS=2.449;InbreedingCoeff=-0.3333;MLEAC=5;MLEAF=0.25;MQ=41.6;MQRankSum=-3.074;QD=3.11;ReadPosRankSum=-1.371;SOR=0.969	GT:AD:DP:GQ:PL	0/1:291,39:330:99:280,0,8796	5	0	5	0
chr1	16579293	16579293	A	G	exonic	NBPF1	.	unknown	UNKNOWN	.	529	584	394	15	0	424	0.266332	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4770	0.4924	0.4777	0.4566	0.4691	0.4789	0.4718	0.4739	0.0008837	23	26028	rs4127114	2.64e-05	4.277e-05	2.622e-05	2.658e-05	0.0002	1.812e-05	1.531e-05	0.0001	7.808e-05	0.0002	0	4.461e-05	0.0002	0	0	1.524e-05	2.313e-05	0	0.0002	0.0007	0.0002	0.0002	0.0007	0.0001	0.0001	0.0002	0.0001	0.0003	0	7.295e-05	0	0.0002	0	0	0.0001	0	0.0007	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.201754	0.190909	0.213499	0.135000	0.071429	0.254386	0.230469	0.197479	0.3571	1009.31	72	chr1	16579293	.	A	G	1009.31	.	AC=5;AF=0.357;AN=14;BaseQRankSum=2.23;DP=466;ExcessHet=2.8389;FS=148.609;InbreedingCoeff=-0.4818;MLEAC=6;MLEAF=0.429;MQ=35.93;MQRankSum=0.756;QD=4.59;ReadPosRankSum=-1.271;SOR=7.327	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:61,11:72:99:0|1:16579293_A_G:263,0,2515:16579293	2	0	5	3
chr1	16579294	16579294	T	C	exonic	NBPF1	.	unknown	UNKNOWN	.	528	581	397	16	0	429	0.269642	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4727	0.4891	0.4739	0.4729	0.4642	0.4729	0.4624	0.4674	0.0008837	23	26028	rs4127115	2.497e-05	6.823e-05	2.58e-05	2.42e-05	0.0003	1.689e-05	1.419e-05	0.0001	0.0001	0.0002	0	8.871e-05	0.0003	0	0	8.967e-06	2.286e-05	0	0.0002	0.0010	0.0002	0.0002	0.0004	0.0001	0.0001	0.0001	0.0001	0.0003	0	0.0001	0	0.0004	0.0002	0	0.0001	0	0.0002	.	.	.	0.626	0.11263	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.023	0.00407	.	.	.	.	.	.	.	0.0016256273	0.00019	T	.	.	.	.	.	.	.	.	.	0.015250635719149447	0.01481	.	.	0.530770659447	0.43143	T	.	.	.	-0.622413	0.00106	T	-1.13183	0.00013	T	.	.	.	0.49745	0.15470	T	.	.	.	.	.	.	.	.	-6.053	0.46720	T	.	.	0.064	0.01738	B	.;.	.;.	-0.476506	0.01943	0.166	0.24072861881687246	0.01047	0.00011	0.00159	N	AEFI	0.015935	0.00328	N	.	.	.	.	.	.	6.49849957978273E-4	0.07527	0.163922	0.03765	0	0.096583	0.02683	0	0.083675	0.02720	0	0.24341	0.04801	0	.	.	.	.	.	-0.898000	0.04213	-20.000000	0.00162	-1.466000	0.01076	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	445	0.79730	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.180503	0.190909	0.186464	0.120000	0.071429	0.254386	0.206349	0.176471	0.3125	1005.64	72	chr1	16579294	.	T	C	1005.64	.	AC=5;AF=0.313;AN=16;BaseQRankSum=-3.947;DP=465;ExcessHet=2.8389;FS=148.609;InbreedingCoeff=-0.4289;MLEAC=6;MLEAF=0.375;MQ=35.91;MQRankSum=0.756;QD=4.57;ReadPosRankSum=-1.305;SOR=7.327	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:61,11:72:99:0|1:16579293_A_G:263,0,2515:16579293	3	0	5	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.062183	0.039216	0.051247	0.070000	0.000000	0.098214	0.070866	0.060345	0.25	464.7	70	chr1	16579305	.	G	A	464.7	.	AC=5;AF=0.25;AN=20;BaseQRankSum=2.45;DP=449;ExcessHet=2.8389;FS=126.997;InbreedingCoeff=-0.3739;MLEAC=5;MLEAF=0.25;MQ=35.64;MQRankSum=0.725;QD=2.18;ReadPosRankSum=-1.5;SOR=6.592	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:62,8:70:99:0|1:16579305_G_A:146,0,2566:16579305	5	0	5	0
chr1	16579308	16579308	G	C	exonic	NBPF1	.	unknown	UNKNOWN	.	536	678	298	10	0	318	0.189964	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4169	0.4635	0.4098	0.4442	0.3977	0.4141	0.4226	0.4033	0.0009605	25	26028	rs10796417	2.988e-06	0.0001	2.05e-06	3.875e-06	1.313e-05	8e-07	2.2e-07	.	.	0	0	4.366e-05	0	0	0	1.416e-06	0	1.313e-05	4.685e-05	0.0005	7.844e-05	1.371e-05	7.453e-05	2.144e-05	1.549e-05	2.876e-05	1.88e-05	0	0	6.652e-05	0.0003	0	0	0	7.453e-05	0	0	.	.	.	0.114	0.36765	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.085	0.06190	.	.	.	.	.	.	.	0.0018868446	0.00026	T	.	.	.	.	.	.	.	.	.	0.03536828552245914	0.03483	.	.	0.579951882362	0.50079	T	.	.	.	-0.382433	0.03007	T	-0.787115	0.02245	T	.	.	.	0.920308	0.71149	D	.	.	.	.	.	.	.	.	-9.586	0.71394	D	.	.	0.175	0.38372	B	.;.	.;.	1.521589	0.19533	14.31	0.3543343570932736	0.02223	0.00520	0.02423	N	AEFI	0.030698	0.03141	N	.	.	.	.	.	.	6.38433801032419E-4	0.07505	0.183328	0.03972	0	0.096583	0.02683	0	0.083675	0.02720	0	0.185264	0.04187	1	.	.	.	.	.	0.649000	0.24529	-0.171000	0.11226	0.423000	0.20817	0.003000	0.16062	0.000000	0.08366	0.001000	0.02609	.	.	.	445	0.79730	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.063613	0.029412	0.062500	0.055000	0.000000	0.098214	0.070866	0.068376	0.2	310.61	69	chr1	16579308	.	G	C	310.61	.	AC=4;AF=0.2;AN=20;BaseQRankSum=-1.011;DP=446;ExcessHet=1.5895;FS=110.764;InbreedingCoeff=-0.2501;MLEAC=4;MLEAF=0.2;MQ=35.66;MQRankSum=0.683;QD=2.17;ReadPosRankSum=-1.139;SOR=6.271	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:61,8:69:99:0|1:16579305_G_A:149,0,2537:16579305	6	0	4	0
chr1	16759590	16759590	-	C	exonic	MST1L	.	frameshift insertion	MST1L:NM_001271733:exon7:c.811dupG:p.A271Gfs*26	.	687	520	144	171	0	486	0.31848	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0010	0.0027	0.0007	0.0003	0	0.0010	0	0.0007	0.0097587	254	26028	rs200532237	0.0004	0.0070	0.0004	0.0004	0.0030	0.0003	0.0003	0.0023	0.0021	0.0030	0.0007	0.0005	0.0006	9.298e-05	0.0004	0.0002	0.0007	0.0008	0.0020	0.0100	0.0019	0.0021	0.0059	0.0016	0.0015	0.0045	0.0039	0.0059	0.0022	0.0010	0.0037	0.0009	0.0016	0	0.0008	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7	6195.93	32	chr1	16759590	.	G	GC	6195.93	.	AC=14;AF=0.7;AN=20;BaseQRankSum=4.12;DP=691;ExcessHet=0.6204;FS=9.451;InbreedingCoeff=0.0476;MLEAC=14;MLEAF=0.7;MQ=43.53;MQRankSum=-1.968;QD=12.62;ReadPosRankSum=-3.002;SOR=0.893	GT:AD:DP:GQ:PL	1/1:0,32:32:96:1137,96,0	1	5	4	0
chr1	18481474	18481474	C	T	exonic	KLHDC7A	.	nonsynonymous SNV	KLHDC7A:NM_152375:exon1:c.C493T:p.P165S	.	424	1095	3	0	0	3	0.00136799	.	.	.	2239626	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.069	0.0188699027961	0.0005	0.000199681	0.0004	0.0002	0	0	0	0.0006	0	6.075e-05	0.0003363	52	154602	rs201860136	0.0002	0.0002	0.0002	0.0002	0.0002	0.0002	0.0002	8.763e-05	8.211e-05	2.987e-05	2.236e-05	0.0068	0	0	0.0002	0.0001	0.0007	6.956e-05	0.0003	0.0003	0.0003	0.0003	0.0002	0.0002	0.0002	0.0001	8.876e-05	0	0	6.537e-05	0.0069	0	0	0	0.0002	0.0005	0.0002	0.129	0.26852	T	0.309	0.19782	T	0.046	0.21875	B	0.017	0.18140	B	0.455589	0.12454	U	0.610754	0.999984	0.18198	N	1.3	0.32576	L	-0.72	0.72994	T	-0.27	0.11366	N	0.04	0.01347	-0.9471	0.41465	T	0.175	0.51943	T	10	0.00295344	0.00048	T	0.01887	0.41071	T	0.069	0.20116	.	.	0.50557994651	0.50197	0.14627528083064015	0.14549	0.393107289621	0.40487	0.344538927078	0.17115	T	0.002673	0.02065	T	-0.306032	0.08102	T	-0.385222	0.35110	T	0.0389174842230694	0.03495	T	0.510949	0.16331	T	0.029496038	0.02453	0.07278899	0.15744	0.029496038	0.02453	0.07278899	0.15744	-3.865	0.21779	T	.	.	0.095	0.14797	B	.	.	0.718616	0.10876	7.551	0.95418151404586626	0.26892	0.21271	0.21342	N	AEFDBHCIJ	0.134784	0.25490	N	-0.643637533351912	0.17646	0.9097714	-0.575364127257759	0.20136	1.08352	0.999949113671868	0.47345	0.386957	0.05904	2	0.574621	0.32753	0	0.137785	0.03908	3	0.564101	0.26826	0	.	.	4.81	3.87	0.43823	0.957000	0.28812	-0.045000	0.12619	0.469000	0.21855	0.000000	0.06391	0.000000	0.08366	0.034000	0.13613	0.0:0.7046:0.1886:0.1068	6.059	0.19056	976	0.04745	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.05	2101.43	179	chr1	18481474	.	C	T	2101.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.93;DP=1259;ExcessHet=0;FS=1.179;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.74;ReadPosRankSum=-0.41;SOR=0.796	GT:AD:DP:GQ:PL	0/1:100,79:179:99:2113,0,2725	9	0	1	0
chr1	20501054	20501054	C	T	exonic	MUL1	.	nonsynonymous SNV	MUL1:NM_024544:exon4:c.G695A:p.R232K	.	425	1094	3	0	0	3	0.00136924	.	.	.	2335129	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.018	0.00304358720837	7.7e-05	.	0.0002	9.656e-05	0.0010	0	0	0.0002	0	0.0002	0.0002005	31	154602	rs143833510	0.0001	0.0001	0.0001	0.0001	0.0005	0.0001	9.501e-05	0.0003	0.0002	0	0.0004	0.0009	0	0	0.0005	9.083e-05	0.0002	0.0001	0.0001	0.0001	0.0001	0.0001	0.0004	7.569e-05	6.275e-05	7.285e-05	4.239e-05	2.404e-05	0	0.0002	0.0003	0	0	0.0034	0.0001	0.0009	0.0004	0.619	0.05325	T	1.0	0.01155	T	0.0	0.02946	B	0.001	0.04355	B	0.007788	0.31194	N	0.436713	0.973599	0.39036	D	-0.475	0.02701	N	2.06	0.20523	T	0.48	0.03041	N	0.026	0.00527	-1.0212	0.23324	T	0.025	0.10598	T	10	0.009372652	0.00212	T	0.003044	0.06547	T	0.018	0.03083	.	.	0.0551355673512	0.04727	0.24108691139465793	0.24022	0.364596557504	0.38073	0.431156933308	0.29366	T	0.012099	0.10690	T	-0.613871	0.00120	T	-0.797594	0.01964	T	0.00561332765786522	0.00061	T	0.671133	0.27986	T	0.04408985	0.06987	0.051787104	0.08404	0.04408985	0.06987	0.051787104	0.08403	-3.38	0.14788	T	.	.	0.063	0.01449	B	.	.	0.649636	0.10179	6.922	0.87917283541257307	0.17578	0.20700	0.21137	N	AEFDBCI	0.116320	0.22834	N	-0.881419298240098	0.11285	0.5437851	-0.717611226492627	0.16522	0.8744346	0.184506649209992	0.17917	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	6.16	2.31	0.27816	0.635000	0.24318	0.136000	0.15109	-0.182000	0.10109	0.043000	0.21118	0.840000	0.27292	0.992000	0.67800	0.0:0.7048:0.0:0.2952	9.092	0.35778	905	0.23532	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.001359	0.000000	0.000000	0.000000	0.003049	0.000000	0.1	3553.14	117	chr1	20501054	.	C	T	3553.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=0.56;DP=535;ExcessHet=0.2348;FS=2.896;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=14.87;ReadPosRankSum=1.49;SOR=0.517	GT:AD:DP:GQ:PL	0/1:57,60:117:99:1633,0,1590	8	0	2	0
chr1	20633926	20633926	G	T	exonic	PINK1	.	nonsynonymous SNV	PINK1:NM_032409:exon1:c.G378T:p.Q126H	Parkinson disease 6, early onset, Autosomal recessive	.	.	.	.	.	.	.	.	.	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	0.021	0.256082686268	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs1051163566	1.256e-05	1.642e-05	1.523e-05	9.847e-06	1.635e-05	7.85e-06	6.48e-06	1.022e-05	8.43e-06	0	0	0	0	0	0	1.635e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.14	0.25664	T	0.155	0.31936	T	0.002	0.09854	B	0.003	0.08700	B	0.692323	0.06154	N	1.160920	0.917051	0.36569	D	1.955	0.52871	M	-0.04	0.63240	T	-1.08	0.28084	N	0.143	0.14338	-0.9847	0.33903	T	0.129	0.43848	T	10	0.17743614	0.32778	T	0.256083	0.89316	D	0.021	0.04004	0.432	0.48171	0.735110055148	0.73274	0.6335455018251716	0.63288	0.295338444936	0.31937	0.471088498831	0.34830	T	0.152839	0.49342	T	-0.132547	0.31084	T	-0.428171	0.30144	T	0.0723272159128514	0.08973	T	0.506749	0.16047	T	0.13000326	0.30346	0.06602666	0.13465	0.13000326	0.30346	0.06602666	0.13465	-5.125	0.38170	T	0.21536090571961305	0.28952	0.200	0.42302	B	.	.	2.427245	0.31222	18.68	0.97648982898232373	0.35125	0.67687	0.33523	D	ALL	0.226459	0.35041	N	-0.592630086542601	0.19167	1.001033	-0.489981026875894	0.22428	1.218152	0.999999891205496	0.74766	0.652421	0.48094	0	0.748881	0.99253	0	0.504199	0.09095	0	0.241949	0.04745	2	.	.	3.87	1.9	0.24770	0.333000	0.19512	-0.030000	0.12807	0.518000	0.23583	0.527000	0.27166	0.000000	0.08366	0.989000	0.64315	0.1207:0.2167:0.6626:0.0	4.989	0.13551	792	0.45996	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	854.43	76	chr1	20633926	.	G	T	854.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.707;DP=403;ExcessHet=0;FS=3.159;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.24;ReadPosRankSum=0.994;SOR=0.386	GT:AD:DP:GQ:PL	0/1:40,36:76:99:866,0,967	9	0	1	0
chr1	20639986	20639986	C	T	exonic	PINK1	.	nonsynonymous SNV	PINK1:NM_032409:exon3:c.C770T:p.T257I	Parkinson disease 6, early onset, Autosomal recessive	0	1520	1	1	0	3	0.000985869	.	.	.	361485	Autosomal_recessive_early-onset_Parkinson_disease_6|not_provided	MONDO:MONDO:0011613,MedGen:C1853833,OMIM:605909,Orphanet:2828|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.101	0.061028962444	7.7e-05	.	0.0001	0	0	0	0	0.0002	0	9.038e-05	5.82e-05	9	154602	rs370906995	5.643e-05	5.609e-05	5.061e-05	6.232e-05	0.0007	4.637e-05	4.261e-05	0.0002	0.0001	0	4.576e-05	0	0	0	0.0007	5.774e-05	0.0001	5.92e-05	5.914e-05	5.91e-05	3.854e-05	8.07e-05	0.0002	3.077e-05	2.21e-05	2.846e-05	1.858e-05	2.413e-05	0	6.544e-05	0	0	0	0	7.349e-05	0.0005	0.0002	0.257	0.16738	T	0.203	0.27325	T	0.001	0.07471	B	0.005	0.11217	B	0.092711	0.20260	N	0.549745	0.999995	0.08975	N	0.89	0.21648	L	-0.86	0.74477	T	-0.97	0.25770	N	0.194	0.21319	-0.8512	0.51885	T	0.247	0.61670	T	10	0.09409064	0.16702	T	0.061029	0.68199	D	0.101	0.28911	.	.	0.760246624658	0.75806	0.6426560877212691	0.64200	0.186505350035	0.20959	0.331797361374	0.15206	T	0.102931	0.41112	T	-0.32244	0.06700	T	-0.46427	0.26135	T	0.0316480323672295	0.02250	T	0.531447	0.17660	T	0.06547155	0.13995	0.044564288	0.05802	0.087983996	0.20509	0.048041884	0.07051	-4.289	0.28023	T	0.18001458181815472	0.23148	0.097	0.16010	B	.	.	1.159768	0.15487	11.89	0.90546266662979746	0.19802	0.15753	0.19065	N	AEFBCI	0.290719	0.40203	N	-0.699226847813529	0.16044	0.813966	-0.689914927246753	0.17212	0.914204	0.999983174564548	0.51787	0.743674	0.98306	0	0.69481	0.67340	0	0.630245	0.45026	0	0.691587	0.68394	0	.	.	5.73	3.53	0.39533	0.364000	0.20053	0.236000	0.16249	0.587000	0.30956	0.000000	0.06391	0.000000	0.08366	0.101000	0.18331	0.0:0.8019:0.0:0.1981	8.817	0.34159	768	0.49510	Protein kinase domain|Protein kinase domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.000504	0.000000	0.001359	0.002924	0.000000	0.000000	0.000000	0.000000	0.05	1469.43	108	chr1	20639986	.	C	T	1469.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=3.43;DP=420;ExcessHet=0;FS=0.736;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.61;ReadPosRankSum=3.36;SOR=0.582	GT:AD:DP:GQ:PL	0/1:56,52:108:99:1481,0,1403	9	0	1	0
chr1	20644515	20644515	C	G	exonic	PINK1	.	nonsynonymous SNV	PINK1:NM_032409:exon4:c.C802G:p.L268V	Parkinson disease 6, early onset, Autosomal recessive	1	1519	1	1	0	3	0.000986518	.	.	.	361486	not_provided|Autosomal_recessive_early-onset_Parkinson_disease_6	MedGen:C3661900|MONDO:MONDO:0011613,MedGen:C1853833,OMIM:605909,Orphanet:2828	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.555	0.0512265757303	7.7e-05	.	9.885e-05	0	0	0.0002	0	0.0001	0	6.057e-05	9.06e-05	14	154602	rs372280083	6.704e-05	6.704e-05	6.398e-05	7.013e-05	0.0007	5.628e-05	5.171e-05	0.0002	0.0001	0	6.708e-05	0	5.038e-05	0	0.0007	5.755e-05	0.0003	6.956e-05	6.564e-05	6.561e-05	3.854e-05	9.396e-05	0.0004	3.513e-05	2.614e-05	6.83e-05	2.858e-05	0	0	6.533e-05	0	0.0004	0	0	7.349e-05	0.0005	0.0002	0.074	0.34621	T	0.089	0.40426	T	0.924	0.51285	P	0.714	0.54635	P	0.000048	0.53742	D	0.077090	0.999568	0.47592	D	1.51	0.38214	L	-1.02	0.76300	T	-2.02	0.46503	N	0.747	0.74644	-0.1149	0.79753	T	0.464	0.79279	T	10	0.7522331	0.75721	D	0.051227	0.64572	D	0.555	0.81659	.	.	0.900841570737	0.89985	0.6058041798009055	0.60511	0.58745684734	0.54325	0.4311850667	0.29371	T	0.168822	0.51597	T	-0.00706771	0.50676	T	-0.0112602	0.69602	D	0.143003748122985	0.16530	T	0.706929	0.31753	T	0.06390097	0.13503	0.10545503	0.25349	0.05974299	0.12177	0.10213529	0.24469	-6.234	0.48197	T	0.2370713321905943	0.32103	0.110	0.21353	B	.	.	2.175029	0.27721	17.56	0.99679957193399049	0.79174	0.76581	0.37570	D	AEFBI	0.512331	0.54059	D	0.233293259742276	0.52819	3.453726	0.245500637034315	0.52392	3.414479	0.998028602421739	0.36327	0.706548	0.73137	0	0.550933	0.16991	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.85	4.94	0.64645	0.606000	0.23891	1.807000	0.28930	-1.651000	0.00826	0.429000	0.26401	0.980000	0.30356	0.720000	0.34772	0.0:0.9143:0.0:0.0857	10.953	0.46551	763	0.50172	Protein kinase domain|Protein kinase domain|Protein kinase domain	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.001007	0.000000	0.001359	0.005848	0.000000	0.000000	0.000000	0.000000	0.05	2049.43	148	chr1	20644515	.	C	G	2049.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.622;DP=462;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.85;ReadPosRankSum=0.576;SOR=0.688	GT:AD:DP:GQ:PL	0/1:65,83:148:99:2061,0,1659	9	0	1	0
chr1	21245077	21245077	T	C	exonic	ECE1	.	nonsynonymous SNV	ECE1:NM_001113347:exon8:c.A1154G:p.N385S,ECE1:NM_001113349:exon9:c.A1181G:p.N394S,ECE1:NM_001113348:exon10:c.A1142G:p.N381S,ECE1:NM_001397:exon10:c.A1190G:p.N397S	.	0	1513	8	1	0	10	0.00329381	.	.	.	761541	not_provided|ECE1-related_disorder	MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.116	.	.	0.00259585	0.0013	0	0.0003	0	0	0.0003	0.0011	0.0079	0.0011902	184	154602	rs145301395	0.0007	0.0007	0.0005	0.0009	0.0077	0.0006	0.0006	0.0072	0.0070	2.987e-05	0.0002	0.0008	0	0	0.0026	0.0002	0.0009	0.0077	0.0004	0.0004	0.0003	0.0005	0.0056	0.0003	0.0003	0.0039	0.0034	2.405e-05	0	0.0012	0.0003	0	0	0	0.0002	0.0005	0.0056	0.021	0.50676	D	0.115	0.40747	T	0.043	0.21573	B	0.016	0.21085	B	0.000000	0.84330	D	0.087520	0.999564	0.47592	D	1.08	0.27187	L	-0.69	0.72678	T	-1.61	0.39314	N	0.642	0.66615	-0.7970	0.55321	T	0.221	0.58459	T	10	0.012654036	0.00271	T	.	.	.	0.116	0.32463	.	.	0.683380910013	0.68067	0.2869067786071827	0.28603	0.51859878358	0.49709	0.37147206068	0.21044	T	0.337245	0.70666	T	-0.364525	0.03881	T	-0.291826	0.45582	T	0.0445283127503575	0.04517	T	0.953005	0.88325	D	0.22118284	0.44690	0.12763987	0.30722	0.2361329	0.46459	0.13934748	0.33250	-5.232	0.41111	T	0.15735805619011872	0.18996	0.132	0.31931	B	.;.;.;.;.;.	.;.;.;.;.;.	3.262486	0.44627	22.0	0.99678396845201622	0.79108	0.89477	0.49966	D	AEFDBHCI	0.688451	0.64945	D	-0.160813510615294	0.34777	1.989138	0.0108562006493672	0.40217	2.396702	0.999999993438619	0.74766	0.77792	0.99625	0	0.724815	0.89359	0	0.854111	0.99894	0	0.711	0.71501	0	.	.	5.55	4.41	0.52588	4.727000	0.61687	4.163000	0.42223	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:0.1483:0.8517	11.707	0.50866	315	0.87208	.;.;Peptidase M13, N-terminal domain;Peptidase M13, N-terminal domain;Peptidase M13, N-terminal domain;Peptidase M13, N-terminal domain	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.002014	0.000000	0.000000	0.000000	0.000000	0.000000	0.006098	0.007576	0.05	971.43	87	chr1	21245077	.	T	C	971.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.551;DP=409;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.17;ReadPosRankSum=0.608;SOR=0.64	GT:AD:DP:GQ:PL	0/1:49,38:87:99:983,0,1430	9	0	1	0
chr1	21875990	21875990	G	A	exonic	HSPG2	.	nonsynonymous SNV	HSPG2:NM_001291860:exon24:c.C3059T:p.P1020L,HSPG2:NM_005529:exon24:c.C3056T:p.P1019L	Dyssegmental dysplasia, Silverman-Handmaker type, Autosomal recessive;Schwartz-Jampel syndrome, type 1, Autosomal recessive	1	1482	39	0	0	39	0.012987	.	.	.	192986	Connective_tissue_disorder|not_provided|not_specified|Schwartz-Jampel_syndrome	MONDO:MONDO:0003900,MedGen:C0009782|MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0009717,MedGen:C0036391,Orphanet:800	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.310	.	0.0099	0.00259585	0.0065	0.0019	0.0041	0	0.0011	0.0104	0.0011	0.0010	0.0069339	1072	154602	rs62642528	0.0098	0.0098	0.0099	0.0096	0.0229	0.0096	0.0096	0.0197	0.0185	0.0018	0.0048	0.0027	5.038e-05	0.0020	0.0229	0.0118	0.0075	0.0014	0.0061	0.0061	0.0065	0.0056	0.0110	0.0057	0.0056	0.0104	0.0101	0.0016	0.0022	0.0037	0.0020	0	0.0021	0.0204	0.0110	0.0061	0.0004	0.01	0.56456	D	0.012	0.63918	D	1.0	0.90584	D	0.999	0.92359	D	0.001331	0.39379	N	0.000000	0.999993	0.08975	N	1.9	0.50570	L	-1.04	0.76561	T	-5.86	0.88561	D	0.796	0.79214	-0.4677	0.69805	T	0.401	0.75202	T	10	0.020259649	0.00464	T	.	.	.	0.310	0.63162	.	.	0.794784060216	0.79287	0.3879942276230261	0.38714	0.219995407713	0.24543	0.377139627934	0.21850	T	0.324577	0.69537	T	-0.414202	0.01864	T	-0.352154	0.38958	T	0.0743849599403005	0.09253	T	0.782822	0.41925	T	0.14985687	0.34145	0.16783574	0.38699	0.14985687	0.34144	0.16783574	0.38698	-5.995	0.46238	T	.	.	0.091	0.13127	B	.	.	3.609643	0.51028	23.0	0.99333071637870607	0.59856	0.24524	0.22420	N	AEFBCI	0.178904	0.30618	N	0.126691278791315	0.47710	2.992968	0.0476170099534832	0.41957	2.529515	0.940289837044212	0.27425	0.67177	0.52595	0	0.610034	0.51514	0	0.697927	0.64325	0	0.711	0.71501	0	.	.	5.51	3.46	0.38718	1.180000	0.31614	6.409000	0.55591	-0.153000	0.12021	0.003000	0.16062	1.000000	0.68203	0.015000	0.10482	0.0:0.3037:0.6963:0.0	13.284	0.59664	800	0.44535	Laminin IV|Laminin IV|Laminin IV	.	.	.	.	.	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	0	0	1	0	0.018630	0.010101	0.014946	0.029240	0.000000	0.025862	0.024390	0.011364	0.05	1225.43	81	chr1	21875990	.	G	A	1225.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.18;DP=425;ExcessHet=0;FS=1.992;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=15.13;ReadPosRankSum=-0.578;SOR=1.014	GT:AD:DP:GQ:PL	0/1:38,43:81:99:1237,0,1030	9	0	1	0
chr1	26275028	26275028	G	A	exonic	CEP85	.	nonsynonymous SNV	CEP85:NM_001281518:exon5:c.G155A:p.R52Q,CEP85:NM_001281517:exon11:c.G1706A:p.R569Q,CEP85:NM_001319944:exon12:c.G1859A:p.R620Q,CEP85:NM_022778:exon12:c.G1859A:p.R620Q	.	.	.	.	.	.	.	.	.	.	.	2355038	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.040	0.00531892832847	.	.	0.0006	0	0	0.0006	0	0.0011	0	0	0.0002264	35	154602	rs201784964	0.0002	0.0002	0.0002	0.0002	0.0003	0.0002	0.0002	0.0002	0.0001	0	2.432e-05	0.0057	0.0003	0	0	5.188e-05	0.0004	0.0002	0.0002	0.0002	0.0002	0.0002	0.0002	0.0002	0.0001	3.762e-05	2.575e-05	0	0	0	0.0072	0	0	0	8.82e-05	0.0014	0.0002	0.05	0.39575	D	0.214	0.26386	T	0.078	0.24389	B	0.011	0.18140	B	0.000505	0.43753	N	0.266541	0.945224	0.37479	D	1.31	0.32734	L	2.77	0.11407	T	0.03	0.06612	N	0.177	0.19055	-1.0772	0.07901	T	0.028	0.12103	T	10	0.006749302	0.00153	T	0.005319	0.13618	T	0.040	0.10527	.	.	0.224531998449	0.22054	0.08531571735260235	0.08465	0.0969990469516	0.10956	0.304969757795	0.11146	T	0.007256	0.06675	T	-0.499773	0.00573	T	-0.58458	0.14139	T	0.0333387513587204	0.02528	T	0.851715	0.53598	D	0.26540744	0.49609	0.22913033	0.47976	0.26540744	0.49609	0.22913033	0.47975	-3.32	0.15395	T	.	.	0.075	0.05668	B	.;.;.	.;.;.	2.817372	0.37108	20.4	0.99848711227772968	0.92838	0.75709	0.37083	D	ALL	0.208038	0.33416	N	-0.168881865557148	0.34433	1.965398	-0.0316902680551047	0.38291	2.253921	0.999999933019461	0.74766	0.722319	0.85440	0	0.71359	0.82159	0	0.698795	0.65105	0	0.723	0.93126	0	.	.	5.57	3.69	0.41483	0.966000	0.28929	1.795000	0.28833	0.676000	0.76740	0.971000	0.34370	1.000000	0.68203	0.995000	0.73285	0.144:0.0:0.856:0.0	11.566	0.50059	441	0.80015	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1294.43	83	chr1	26275028	.	G	A	1294.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.923;DP=456;ExcessHet=0;FS=4.298;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=15.6;ReadPosRankSum=-0.175;SOR=1.147	GT:AD:DP:GQ:PL	0/1:35,48:83:99:1306,0,814	9	0	1	0
chr1	26282357	26282367	CTGGGGCCGGG	0	exonic	UBXN11	.	.	.	.	386	373	210	27	526	790	0.261386	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7	2219.09	64	chr1	26282357	.	CTGGGGCCGGG	*	2219.09	.	AC=14;AF=0.7;AN=20;DP=410;ExcessHet=1.5895;FS=14.029;InbreedingCoeff=-0.25;MLEAC=14;MLEAF=0.7;MQ=60;QD=5.92;SOR=1.36	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:38,26:64:99:0|1:26282334_TGGGGCCG_T:813,0,1438:26282334	0	4	6	0
chr1	26282386	26282392	GCCGGGA	0	exonic	UBXN11	.	.	.	.	476	531	212	27	276	542	0.200301	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1875	1943.22	77	chr1	26282386	.	GCCGGGA	*	1943.22	.	AC=3;AF=0.188;AN=16;BaseQRankSum=0.129;DP=487;ExcessHet=2.8389;FS=11.565;InbreedingCoeff=-0.4379;MLEAC=3;MLEAF=0.188;MQ=60;MQRankSum=0;QD=6.87;ReadPosRankSum=1.35;SOR=0.328	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:39,34:77:99:0|1:26282374_ACC_A:1237,0,1575:26282374	5	0	3	2
chr1	27006326	27006326	C	T	exonic	TENT5B	.	nonsynonymous SNV	TENT5B:NM_052943:exon2:c.G896A:p.R299H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.203	0.00828648616696	.	.	1.751e-05	0	0	0	0	0	0	0.0001	1.29e-05	2	154602	rs767923600	1.303e-05	1.368e-05	1.091e-05	1.517e-05	0.0001	8.33e-06	6.72e-06	8.014e-05	6.249e-05	0	0	0	0	0	0	4.503e-06	3.32e-05	0.0001	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.005	0.63226	D	0.005	0.72224	D	0.668	0.41123	P	0.623	0.51505	P	0.311500	0.14426	U	0.408862	0.999044	0.21681	N	.	.	.	1.73	0.26445	T	-3.16	0.64246	D	0.177	0.19055	-1.0377	0.18016	T	0.066	0.27225	T	10	0.25909996	0.43344	T	0.008286	0.21954	T	0.203	0.48915	0.565	0.68633	0.533567079455	0.53006	0.435973227786984	0.43514	0.851614069957	0.68559	0.381505578756	0.22469	T	0.160663	0.50460	T	-0.383493	0.02961	T	-0.551969	0.17136	T	0.384888888651609	0.28370	T	0.234777	0.03226	T	0.07886185	0.17983	0.059858523	0.11304	0.07886185	0.17982	0.059858523	0.11304	-6.624	0.51236	T	.	.	0.098	0.16187	B	.	.	4.026614	0.59515	24.1	0.99899010632299456	0.97124	0.21349	0.21370	N	AEFDBHCI	0.377347	0.46115	N	0.228134163368195	0.52565	3.430021	0.240323053176682	0.52100	3.387286	0.999999999998575	0.74766	0.714207	0.82060	0	0.59043	0.45803	0	0.648423	0.49468	0	0.613276	0.41899	0	.	.	5.31	4.33	0.51083	5.102000	0.64408	2.726000	0.34350	-0.176000	0.10722	1.000000	0.71638	0.038000	0.21505	0.778000	0.36829	0.0:0.7186:0.0:0.2814	4.365	0.10655	353	0.85335	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1943.43	135	chr1	27006326	.	C	T	1943.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.01;DP=455;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.4;ReadPosRankSum=0.291;SOR=0.709	GT:AD:DP:GQ:PL	0/1:64,71:135:99:1955,0,1514	9	0	1	0
chr1	29317881	29317881	A	C	exonic	PTPRU	.	nonsynonymous SNV	PTPRU:NM_001195001:exon25:c.A3638C:p.D1213A,PTPRU:NM_133178:exon25:c.A3647C:p.D1216A,PTPRU:NM_005704:exon26:c.A3677C:p.D1226A,PTPRU:NM_133177:exon26:c.A3665C:p.D1222A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.628	0.132635592698	.	.	4.129e-05	0	0	0	0	3.005e-05	0	0.0002	3.23e-05	5	154602	rs773499522	1.437e-05	1.436e-05	6.807e-06	2.2e-05	0.0002	9.23e-06	7.84e-06	0.0001	8.646e-05	0	0	0	0	0	0	4.496e-06	1.656e-05	0.0002	6.574e-06	6.567e-06	0	1.346e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.001	0.78490	D	0.003	0.76473	D	0.96	0.55278	D	0.527	0.48453	P	0.000004	0.62929	D	0.060491	0.999888	0.50402	D	2.405	0.69568	M	-1.7	0.83072	D	-5.46	0.85541	D	0.504	0.59393	0.136	0.84815	D	0.552	0.83621	D	9	0.4149102	0.56475	T	0.132636	0.81497	D	0.628	0.85666	0.515	0.61459	0.542878478726	0.53941	0.5695513118796958	0.56883	1.01254877537	0.74827	0.516847968102	0.41183	T	0.510805	0.82701	D	-0.0804019	0.39651	T	-0.0570759	0.66536	T	0.878966987133026	0.52891	D	0.987001	0.95549	D	0.7060494	0.78389	0.64495593	0.79244	0.7060494	0.78390	0.64495593	0.79245	-6.678	0.52700	T	.	.	0.169	0.37178	B	.;.;.;.	.;.;.;.	4.257063	0.64661	24.7	0.99190302630149385	0.54965	0.99074	0.90844	D	AEFDBI	0.894826	0.83422	D	0.538591365358333	0.69390	5.350137	0.5334169836948	0.70254	5.477977	0.999993790922585	0.74766	0.706298	0.61202	0	0.588015	0.36545	0	0.709663	0.75317	0	0.567892	0.33627	0	.	.	4.89	4.89	0.63387	9.318000	0.95450	9.419000	0.80746	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.977000	0.56843	1.0:0.0:0.0:0.0	14.152	0.64924	373	0.84140	PTP type protein phosphatase|PTP type protein phosphatase|PTP type protein phosphatase;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1189.43	118	chr1	29317881	.	A	C	1189.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.862;DP=462;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.08;ReadPosRankSum=-0.587;SOR=0.704	GT:AD:DP:GQ:PL	0/1:67,51:118:99:1201,0,1786	9	0	1	0
chr1	32895665	32895665	C	T	exonic	TMEM54	.	nonsynonymous SNV	TMEM54:NM_001329723:exon3:c.G289A:p.A97T,TMEM54:NM_001329722:exon4:c.G349A:p.A117T,TMEM54:NM_033504:exon4:c.G349A:p.A117T	.	407	1105	10	0	0	10	0.0045045	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.169	0.0231429787654	0.0002	0.000599042	0.0011	0	0	0	0	0.0013	0.0048	0.0016	0.000401	62	154602	rs34622520	0.0005	0.0005	0.0004	0.0005	0.0039	0.0005	0.0004	0.0026	0.0022	0.0002	0.0004	0.0051	0	0	0.0039	0.0003	0.0009	0.0018	0.0003	0.0003	0.0003	0.0004	0.0017	0.0003	0.0002	0.0008	0.0006	0.0001	0	0.0003	0.0020	0	0	0.0068	0.0003	0.0009	0.0017	0.044	0.41096	D	0.22	0.25907	T	0.999	0.77913	D	0.931	0.66596	D	0.000060	0.53742	D	0.168708	1	0.81001	D	2.6	0.76081	M	0.88	0.46028	T	-1.72	0.40850	N	0.345	0.38643	-0.7450	0.58195	T	0.205	0.56266	T	10	0.007438123	0.00169	T	0.023143	0.46083	T	0.169	0.43123	.	.	0.478905595755	0.47518	0.5883529052324505	0.58765	0.815431667459	0.66915	0.561129748821	0.47427	T	0.125754	0.45167	T	-0.389301	0.02718	T	-0.338765	0.40484	T	0.133774310350418	0.15726	T	0.817118	0.47377	T	0.09156814	0.21459	0.14800246	0.35003	0.09156814	0.21459	0.14800246	0.35002	-4.479	0.30613	T	.	.	0.088	0.11510	B	.	.	3.595061	0.50751	23.0	0.99929470913499452	0.99279	0.17835	0.20007	N	AEFDBI	0.160622	0.28658	N	0.324821971651083	0.57425	3.909777	0.227222408181146	0.51362	3.319509	0.999957797736377	0.48110	0.706298	0.61202	0	0.610034	0.51514	0	0.723109	0.80598	0	0.613276	0.41899	0	.	.	5.09	5.09	0.68647	0.689000	0.25118	3.351000	0.37785	0.596000	0.33519	0.026000	0.20160	0.998000	0.33993	0.224000	0.22571	0.0:0.9141:0.0:0.0859	11.210	0.48023	479	0.77495	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.004573	0.005155	0.006849	0.002924	0.000000	0.008772	0.003106	0.007576	0.1	1779.12	60	chr1	32895665	.	C	T	1779.12	.	AC=2;AF=0.1;AN=20;DP=373;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.1;MQ=60;QD=29.65;SOR=1.071	GT:AD:DP:GQ:PL	1/1:0,60:60:99:1802,179,0	9	1	0	0
chr1	37540562	37540562	G	A	exonic	SNIP1	.	nonsynonymous SNV	SNIP1:NM_024700:exon3:c.C521T:p.A174V	Psychomotor retardation, epilepsy, and craniofacial dysmorphism, Autosomal recessive	0	1475	43	4	0	51	0.0169943	.	.	.	780678	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.022	0.00549252527432	0.0009	0.00119808	0.0013	0.0002	0.0009	0	0	0.0017	0.0022	0.0021	0.0013195	204	154602	rs147613529	0.0011	0.0011	0.0009	0.0012	0.0298	0.0010	0.0010	0.0262	0.0248	0.0007	0.0011	0.0010	2.519e-05	0.0001	0.0298	0.0009	0.0018	0.0023	0.0011	0.0011	0.0010	0.0011	0.0022	0.0009	0.0009	0.0016	0.0014	0.0001	0	0.0022	0.0017	0.0002	9.446e-05	0.0340	0.0014	0.0052	0.0008	0.124	0.27426	T	0.276	0.21947	T	0.329	0.33227	B	0.023	0.19966	B	0.067788	0.21716	N	0.510605	0.999944	0.19238	N	2.015	0.55033	M	2.38	0.15843	T	-0.93	0.24898	N	0.079	0.05414	-1.0041	0.28725	T	0.015	0.06090	T	10	0.009179503	0.00207	T	0.005493	0.14136	T	0.022	0.04323	.	.	0.334371577756	0.33041	0.1118918308378245	0.11118	0.57562879392	0.53556	0.431181848049	0.29370	T	0.064636	0.32485	T	-0.556262	0.00267	T	-0.577976	0.14725	T	0.00548965172254646	0.00060	T	0.781422	0.41649	T	0.030039353	0.02599	0.04352365	0.05435	0.030039353	0.02598	0.04352365	0.05435	-4.586	0.31995	T	0.16506830311396595	0.20438	0.108	0.20274	B	.	.	2.022329	0.25697	16.86	0.96986741076784078	0.31883	0.76618	0.37591	D	AEFBCI	0.101475	0.20381	N	-0.56430966759153	0.20036	1.053331	-0.477086120203942	0.22786	1.239378	1.50552123411097E-4	0.05573	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.98	1.91	0.24841	2.197000	0.42329	2.652000	0.33822	-0.169000	0.11342	1.000000	0.71638	1.000000	0.68203	0.191000	0.21631	0.0824:0.0:0.4389:0.4787	7.539	0.26898	927	0.17636	.	.	.	.	.	.	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	1	0	0.025680	0.000000	0.043478	0.023392	0.000000	0.034483	0.015244	0.007576	0.05	1933.43	126	chr1	37540562	.	G	A	1933.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.795;DP=441;ExcessHet=0;FS=1.439;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=15.34;ReadPosRankSum=-0.074;SOR=0.53	GT:AD:DP:GQ:PL	0/1:57,69:126:99:1945,0,1516	9	0	1	0
chr1	41020513	41020516	AGAG	-	exonic	SLFNL1	.	frameshift deletion	SLFNL1:NM_001377532:exon1:c.145_148del:p.L49Mfs*5,SLFNL1:NM_144990:exon2:c.145_148del:p.L49Mfs*5,SLFNL1:NM_001168247:exon3:c.145_148del:p.L49Mfs*5,SLFNL1:NM_001300859:exon3:c.145_148del:p.L49Mfs*5	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001	0	0.0009	0	0	7.649e-05	0	0	3.84e-05	1	26028	rs773080616	7.254e-05	7.251e-05	7.899e-05	6.603e-05	0.0028	6.117e-05	5.702e-05	0.0017	0.0014	5.974e-05	0.0004	0.0002	0	0	0.0028	4.586e-05	0.0002	2.319e-05	7.231e-05	7.224e-05	8.995e-05	5.383e-05	0.0003	3.973e-05	3.128e-05	8.877e-05	5.386e-05	0	0	0.0003	0.0009	0	0	0	5.88e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002014	0.000000	0.001359	0.008772	0.000000	0.000000	0.000000	0.000000	0.05	2010.39	114	chr1	41020512	.	TAGAG	T	2010.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.675;DP=459;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=17.64;ReadPosRankSum=0.752;SOR=0.698	GT:AD:DP:GQ:PL	0/1:61,53:114:99:2022,0,2381	9	0	1	0
chr1	47263056	47263056	C	G	exonic	STIL	.	nonsynonymous SNV	STIL:NM_001048166:exon15:c.G2676C:p.Q892H,STIL:NM_003035:exon15:c.G2673C:p.Q891H,STIL:NM_001282936:exon16:c.G2673C:p.Q891H,STIL:NM_001282937:exon16:c.G2622C:p.Q874H,STIL:NM_001282938:exon17:c.G2535C:p.Q845H,STIL:NM_001282939:exon17:c.G2481C:p.Q827H,STIL:NM_001377417:exon17:c.G2535C:p.Q845H	Microcephaly 7, primary, autosomal recessive, Autosomal recessive	0	1519	1	2	0	5	0.00164312	.	.	.	1490192	Microcephaly_7,_primary,_autosomal_recessive|not_provided	MONDO:MONDO:0012989,MedGen:C2675187,OMIM:612703,Orphanet:2512|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.029	0.00412096120283	.	0.000199681	3.298e-05	0	0.0003	0	0	1.5e-05	0	0	3.88e-05	6	154602	rs200995168	4.583e-05	4.583e-05	4.084e-05	5.088e-05	0.0017	3.661e-05	3.347e-05	0.0009	0.0007	5.974e-05	0.0002	0	0	0	0.0017	3.327e-05	0.0001	1.159e-05	6.566e-05	6.562e-05	6.424e-05	6.714e-05	0.0001	3.514e-05	2.614e-05	3.762e-05	2.575e-05	0	0	0.0001	0	0	0	0	8.82e-05	0.0009	0	0.561	0.07048	T	0.259	0.25438	T	0.0	0.02946	B	0.001	0.04355	B	0.428485	0.12778	N	0.754074	1	0.08975	N	0	0.06538	N	2.28	0.44065	T	-0.4	0.18877	N	0.062	0.11483	-1.0220	0.23063	T	0.052	0.22153	T	10	0.019976616	0.00453	T	0.004121	0.09869	T	0.029	0.06676	0.174	0.08014	0.219573609325	0.21563	0.24618558182055994	0.24532	0.0964167291934	0.10881	0.244788885117	0.03239	T	0.109477	0.42338	T	-0.497151	0.00593	T	-0.682599	0.06826	T	0.00677107604252951	0.00076	T	0.278472	0.08219	T	0.037095	0.04691	0.045252826	0.06049	0.037095	0.04691	0.045252826	0.06049	-3.628	0.18263	T	0.15110769742124938	0.17802	0.096	0.16010	B	.;.;.;.;.	.;.;.;.;.	0.359650	0.07324	3.937	0.48031815159587465	0.03975	0.39294	0.26181	N	ALL	0.114894	0.22613	N	-1.40635910037059	0.02582	0.114227	-1.34016573221322	0.03923	0.1839998	0.999999998813243	0.74766	0.696267	0.57585	0	0.637152	0.57089	0	0.779548	0.98927	0	0.572988	0.34948	1	.	.	5.51	2.51	0.29435	0.189000	0.16845	0.581000	0.19707	-1.168000	0.01403	0.002000	0.15269	0.080000	0.22369	0.114000	0.18915	0.1471:0.5312:0.3217:0.0	9.340	0.37238	664	0.61548	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002014	0.000000	0.006793	0.000000	0.000000	0.000000	0.000000	0.000000	0.05	857.43	68	chr1	47263056	.	C	G	857.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.748;DP=382;ExcessHet=0;FS=2.125;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.61;ReadPosRankSum=-1.184;SOR=0.418	GT:AD:DP:GQ:PL	0/1:35,33:68:99:869,0,895	9	0	1	0
chr1	50418880	50418880	C	T	exonic	DMRTA2	.	nonsynonymous SNV	DMRTA2:NM_032110:exon3:c.G1414A:p.A472T	.	416	1105	1	0	0	1	0.000452284	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.147	0.119220496175	.	0.000199681	0.0001	0	0	0	0	0.0002	0	0.0002	5.82e-05	9	154602	rs555999952	5.306e-05	5.883e-05	5.975e-05	4.622e-05	0.0029	4.301e-05	3.953e-05	0.0018	0.0014	3.661e-05	0.0002	4.433e-05	0	0	0.0029	3.75e-05	0.0002	1.365e-05	4.597e-05	4.594e-05	6.425e-05	2.686e-05	0.0001	2.108e-05	1.526e-05	4.767e-05	3.34e-05	0	0	0	0	0	0	0	0.0001	0	0	0.024	0.47745	D	0.023	0.57104	D	0.999	0.77913	D	0.978	0.74104	D	0.000004	0.62929	D	0.000000	0.823111	0.34805	D	0.345	0.11182	N	1.26	0.36330	T	-0.54	0.16598	N	0.459	0.49783	-0.8089	0.54617	T	0.136	0.45184	T	10	0.19503546	0.35339	T	0.11922	0.79947	D	0.147	0.38986	.	.	0.151104730317	0.14643	0.44822042843175486	0.44740	.	.	0.897102177143	0.96112	D	0.022559	0.17371	T	-0.306007	0.08104	T	-0.392621	0.34246	T	0.151385655917633	0.17213	T	0.634537	0.24876	T	0.18168136	0.39350	0.3060656	0.56632	0.18168136	0.39350	0.3060656	0.56631	-6.286	0.48611	T	.	.	0.285	0.51721	B	.;.	.;.	3.171843	0.43022	21.6	0.99389333683743553	0.62247	0.98193	0.80412	D	AEFDBHCIJ	0.442330	0.50010	N	0.241462006616094	0.53219	3.491731	0.163330534474579	0.47853	3.009357	0.999892364472548	0.45129	0.59774	0.34471	0	0.596491	0.49125	0	0.606814	0.37721	0	0.554799	0.18163	0	.	.	2.93	2.93	0.33092	3.324000	0.51734	6.676000	0.56295	0.460000	0.21577	0.754000	0.29177	1.000000	0.68203	0.476000	0.28476	0.0:1.0:0.0:0.0	13.702	0.62095	560	0.71333	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002564	0.000000	0.005450	0.000000	0.050000	0.000000	0.000000	0.000000	0.05	745.43	57	chr1	50418880	.	C	T	745.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.067;DP=368;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.08;ReadPosRankSum=0.351;SOR=0.752	GT:AD:DP:GQ:PL	0/1:28,29:57:99:757,0,685	9	0	1	0
chr1	53828075	53828075	C	T	exonic	NDC1	.	nonsynonymous SNV	NDC1:NM_018087:exon4:c.G379A:p.V127M	.	434	1086	2	0	0	2	0.000919963	.	.	.	3558881	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.054	0.00874370951065	.	.	7.415e-05	0	0.0003	0	0	7.495e-05	0.0011	0	7.76e-05	12	154602	rs769789336	4.241e-05	4.241e-05	4.356e-05	4.125e-05	0.0003	3.376e-05	3.065e-05	0.0001	9.193e-05	0	0.0002	0	0	0	0.0003	4.227e-05	4.967e-05	0	4.597e-05	4.593e-05	1.285e-05	8.058e-05	0.0003	2.108e-05	1.526e-05	8.874e-05	5.384e-05	0	0	0.0003	0	0	0	0.0068	1.47e-05	0	0	0.19	0.21144	T	0.036	0.52060	D	0.003	0.11197	B	0.006	0.12133	B	0.170034	0.17402	N	0.602886	1	0.81001	D	0.11	0.08516	N	0.92	0.44461	T	-0.51	0.15986	N	0.194	0.21319	-1.0662	0.10269	T	0.043	0.18576	T	10	0.06770873	0.09472	T	0.008744	0.23074	T	0.054	0.15330	0.531	0.63855	0.171220215726	0.16700	0.405029520553448	0.40418	0.124255005918	0.13989	0.280599325895	0.07575	T	0.015962	0.13288	T	-0.478441	0.00755	T	-0.64031	0.09647	T	0.0331872391323925	0.02502	T	0.829317	0.49436	T	0.022456173	0.00909	0.037915815	0.03546	0.022456173	0.00909	0.037915815	0.03546	-5.314	0.40081	T	.	.	0.082	0.08851	B	.	.	1.612624	0.20604	14.83	0.97092229125465568	0.32328	0.41820	0.26742	N	AEFBI	0.041028	0.06184	N	-0.770152354202215	0.14093	0.6992271	-0.679576471390971	0.17471	0.929189	0.0070551910128909	0.11374	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.27	-3.11	0.04975	-0.239000	0.08983	1.109000	0.24140	0.549000	0.26987	0.859000	0.30595	1.000000	0.68203	0.998000	0.85391	0.1748:0.1315:0.5157:0.178	3.848	0.08453	867	0.32089	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.001511	0.000000	0.001359	0.002924	0.000000	0.000000	0.003049	0.000000	0.05	735.43	80	chr1	53828075	.	C	T	735.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.41;DP=392;ExcessHet=0;FS=3.002;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.19;ReadPosRankSum=-0.359;SOR=0.899	GT:AD:DP:GQ:PL	0/1:48,32:80:99:747,0,1145	9	0	1	0
chr1	54584704	54584704	G	A	exonic	ACOT11	.	nonsynonymous SNV	ACOT11:NM_015547:exon2:c.G83A:p.R28H,ACOT11:NM_147161:exon2:c.G83A:p.R28H	.	423	1098	1	0	0	1	0.000455166	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.012	0.0130511085443	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1328162363	6.841e-06	6.84e-06	5.445e-06	8.25e-06	0.0002	3.46e-06	2.52e-06	3.81e-06	2.76e-06	0	0	0	0	0	0.0002	8.093e-06	0	0	4.6e-05	4.597e-05	7.709e-05	1.345e-05	0.0002	2.109e-05	1.527e-05	5.289e-05	2.836e-05	2.413e-05	0	0.0002	0	0	0	0	2.94e-05	0.0005	0	0.207	0.29158	T	0.244	0.33109	T	0.001	0.12183	B	0.002	0.06944	B	0.561389	0.05426	N	1.226830	1	0.08975	N	0	0.06538	N	2.84	0.11515	T	0.25	0.04456	N	0.078	0.05287	-0.9475	0.41397	T	0.015	0.06138	T	10	0.051306397	0.04993	T	0.013051	0.32145	T	0.012	0.01476	.	.	0.152612264143	0.14878	0.21899189252379628	0.21815	0.241955391217	0.26711	0.247432470322	0.03502	T	0.005409	0.04862	T	-0.41348	0.01885	T	-0.831712	0.01232	T	0.056903434506005	0.06672	T	0.663534	0.27241	T	0.021748936	0.00794	0.02335845	0.00350	0.021748936	0.00794	0.02335845	0.00350	-4.451	0.31318	T	.	.	0.086	0.14660	B	.;.	.;.	0.973711	0.13511	10.03	0.98097737157307097	0.38245	0.06795	0.12819	N	AEFDBHCI	0.052598	0.09404	N	-1.23197089951746	0.04543	0.2052436	-1.21329545400455	0.05696	0.2721104	0.998404590219355	0.36906	0.632932	0.41330	0	0.547309	0.14657	0	0.601832	0.32385	0	0.655142	0.61905	0	.	.	5.27	0.138	0.14091	-0.039000	0.12076	0.438000	0.18395	0.667000	0.69007	0.000000	0.06391	0.000000	0.08366	0.014000	0.10232	0.3762:0.0:0.6238:0.0	8.584	0.32807	717	0.55835	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	2460.43	188	chr1	54584704	.	G	A	2460.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.74;DP=504;ExcessHet=0;FS=5.126;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.09;ReadPosRankSum=-0.464;SOR=0.709	GT:AD:DP:GQ:PL	0/1:95,93:188:99:2472,0,2202	9	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	566.1	44	chr1	54813813	.	G	GA	566.1	.	AC=2;AF=0.1;AN=20;BaseQRankSum=0.989;DP=323;ExcessHet=0.2348;FS=3.528;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=8.45;ReadPosRankSum=-0.647;SOR=1.189	GT:AD:DP:GQ:PL	0/1:23,21:44:99:478,0,559	8	0	2	0
chr1	56511976	56511976	T	C	exonic	PLPP3	.	nonsynonymous SNV	PLPP3:NM_003713:exon5:c.A810G:p.I270M	.	427	1094	1	0	0	1	0.00045683	0.0507	0.368	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.321	0.0696274306782	.	.	8.238e-06	0	0	0	0	0	0	6.056e-05	6.5e-06	1	154602	rs759898320	5.475e-06	5.472e-06	4.085e-06	6.878e-06	0.0003	2.36e-06	1.7e-06	6.094e-05	2.522e-05	0	0	0	0	0	0.0003	0	1.656e-05	5.806e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.042	0.41637	D	0.031	0.53788	D	0.146	0.27821	B	0.369	0.43514	B	0.000507	0.43753	D	0.256920	0.999999	0.58761	D	.	.	.	-0.95	0.75438	T	-1.48	0.36189	N	0.474	0.50958	-0.7432	0.58288	T	0.294	0.66564	T	9	0.26385334	0.43867	T	0.069627	0.70782	D	0.321	0.64318	0.425	0.47021	0.494013581214	0.49034	0.5672986322911534	0.56657	1.47327362475	0.86575	0.534450471401	0.43660	T	0.588503	0.86633	D	-0.123209	0.32599	T	-0.211158	0.53585	T	0.413005832332737	0.29430	T	0.820318	0.47908	T	0.102521986	0.24226	0.14456643	0.34317	0.102521986	0.24226	0.14456643	0.34317	-6.481	0.50140	T	.	.	0.214	0.44332	B	.	.	2.708843	0.35399	19.89	0.99685513712955909	0.79574	0.88553	0.48534	D	AEFBI	0.487032	0.52595	N	-0.0493787954628986	0.39629	2.340165	0.0667689791203222	0.42890	2.602256	0.998499665981663	0.37071	0.722319	0.85440	0	0.610034	0.51514	0	0.698795	0.65105	0	0.714379	0.83352	0	.	.	5.93	3.61	0.40494	1.609000	0.36469	2.320000	0.32129	-0.123000	0.13640	1.000000	0.71638	1.000000	0.68203	0.786000	0.37147	0.1605:0.1297:0.0:0.7098	4.563	0.11565	830	0.39242	Phosphatidic acid phosphatase type 2/haloperoxidase|Phosphatidic acid phosphatase type 2/haloperoxidase	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	3498.43	230	chr1	56511976	.	T	C	3498.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.359;DP=543;ExcessHet=0;FS=1.03;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=15.21;ReadPosRankSum=-0.621;SOR=0.769	GT:AD:DP:GQ:PL	0/1:92,138:230:99:3510,0,2239	9	0	1	0
chr1	56940892	56940892	C	T	exonic	C8B	.	stopgain	C8B:NM_000066:exon9:c.G1355A:p.W452X,C8B:NM_001278543:exon10:c.G1199A:p.W400X,C8B:NM_001278544:exon10:c.G1169A:p.W390X	C8 deficiency, type II, Autosomal recessive	.	.	.	.	.	.	.	.	.	YES	1351333	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Pathogenic	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs200077558	1.3e-05	1.3e-05	1.225e-05	1.375e-05	1.709e-05	8.31e-06	6.7e-06	1.093e-05	8.81e-06	0	0	0	0	0	0	1.709e-05	0	0	1.315e-05	1.313e-05	1.285e-05	1.347e-05	2.416e-05	2.19e-06	8.2e-07	.	.	2.416e-05	0	0	0	0	0	0	1.471e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	0.000000	0.84330	D	0.000000	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.702	0.71587	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.614224	0.98017	D	0.66	0.99401	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive;.;.	High;.;.	9.750943	0.99279	43	0.99731189590051472	0.82761	0.98924	0.88695	D	AEFI	0.105271	0.21038	N	0.900365014889063	0.91778	11.059	0.779733292651363	0.88349	9.549396	0.999999955263291	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.657636	0.52715	0	0.564101	0.26826	0	.	.	5.25	5.25	0.73169	5.517000	0.66777	4.594000	0.43970	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:1.0:0.0:0.0	19.208	0.93730	867	0.32089	.;Membrane attack complex component/perforin (MACPF) domain|Membrane attack complex component/perforin (MACPF) domain|Membrane attack complex component/perforin (MACPF) domain;Membrane attack complex component/perforin (MACPF) domain|Membrane attack complex component/perforin (MACPF) domain|Membrane attack complex component/perforin (MACPF) domain	.	.	.	.	.	Pathogenic	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1396.43	82	chr1	56940892	.	C	T	1396.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.173;DP=390;ExcessHet=0;FS=0.864;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=17.03;ReadPosRankSum=-0.25;SOR=0.824	GT:AD:DP:GQ:PL	0/1:30,52:82:99:1408,0,837	9	0	1	0
chr1	58539090	58539090	G	A	exonic	OMA1	.	nonsynonymous SNV	OMA1:NM_145243:exon2:c.C205T:p.H69Y	.	433	1072	16	1	0	18	0.00832562	.	.	.	696814	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.038	.	0.0083	0.0105831	0.0035	0.0202	0.0061	0	0	0.0018	0.0055	0.0008	0.0035446	548	154602	rs75220198	0.0026	0.0027	0.0029	0.0024	0.0213	0.0025	0.0025	0.0193	0.0186	0.0209	0.0062	0.0076	0	3.762e-05	0.0213	0.0016	0.0061	0.0008	0.0076	0.0076	0.0077	0.0075	0.0196	0.0072	0.0071	0.0185	0.0180	0.0196	0	0.0136	0.0081	0	0	0.0102	0.0011	0.0100	0.0006	0.647	0.04897	T	1.0	0.01155	T	0.0	0.02946	B	0.001	0.04355	B	0.282623	0.03843	N	1.424610	1	0.08975	N	-0.09	0.04745	N	2.55	0.30401	T	-0.28	0.26639	N	0.072	0.04547	-1.0471	0.15217	T	0.019	0.07893	T	9	0.0035673082	0.00064	T	.	.	.	0.038	0.09825	.	.	0.0716867268079	0.06686	0.19121802954509343	0.19039	0.0710877946983	0.07967	0.22847956419	0.01857	T	0.003165	0.11750	T	-0.567158	0.00230	T	-0.57054	0.15401	T	0.000551141018948583	0.00005	T	0.570643	0.22456	T	0.014462947	0.00094	0.025972793	0.00663	0.014462947	0.00094	0.025972793	0.00663	-4.386	0.29367	T	.	.	0.067	0.12797	B	.;.;.;.;.;.	.;.;.;.;.;.	0.169778	0.05591	2.045	0.38770388190817467	0.02635	0.06867	0.12892	N	AEFDBI	0.061125	0.11665	N	-1.29365871496088	0.03751	0.1681218	-1.26594598636654	0.04899	0.2321911	6.43101686409418E-5	0.04366	0.706548	0.73137	0	0.724815	0.89359	0	0.658983	0.55881	0	0.655142	0.61905	0	.	.	5.65	0.465	0.15923	0.784000	0.26477	0.292000	0.16883	-0.816000	0.03012	0.009000	0.18154	0.000000	0.08366	0.173000	0.21076	0.2027:0.209:0.3746:0.2136	1.288	0.01930	950	0.11238	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	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	0.026687	0.080808	0.035326	0.029240	0.050000	0.017241	0.009146	0.000000	0.05	948.43	93	chr1	58539090	.	G	A	948.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.53;DP=394;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.2;ReadPosRankSum=-0.047;SOR=0.709	GT:AD:DP:GQ:PL	0/1:56,37:93:99:960,0,1456	9	0	1	0
chr1	64178209	64178209	G	C	exonic	ROR1	.	nonsynonymous SNV	ROR1:NM_005012:exon9:c.G2168C:p.S723T	.	429	1084	9	0	0	9	0.00413413	.	.	.	1501728	not_provided|not_specified	MedGen:C3661900|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.040	0.0131270095098	7.7e-05	.	0.0003	9.615e-05	0	0	0	0.0003	0.0011	0.0013	0.0002652	41	154602	rs371601159	0.0002	0.0002	0.0001	0.0002	0.0123	0.0002	0.0002	0.0100	0.0092	8.961e-05	0	0.0008	0	0	0.0123	2.968e-05	0.0003	0.0014	0.0001	0.0001	3.856e-05	0.0002	0.0031	8.167e-05	6.723e-05	0.0019	0.0016	2.407e-05	0	0	0	0	0	0.0034	1.47e-05	0.0005	0.0031	0.152	0.24468	T	0.539	0.11299	T	0.119	0.26641	B	0.122	0.32387	B	0.002653	0.36173	N	0.122893	0.998165	0.44581	D	0.735	0.18861	N	0.0	0.62608	T	-1.92	0.44657	N	0.296	0.33469	-1.0278	0.21168	T	0.096	0.36263	T	10	0.0612697	0.07655	T	0.013127	0.32289	T	0.040	0.10527	.	.	0.398365109743	0.39450	0.5552575564902293	0.55452	0.396995801729	0.40801	0.712590515614	0.68969	T	0.321446	0.69254	T	-0.389523	0.02709	T	-0.367677	0.37159	T	0.024406061091393	0.01196	T	0.846115	0.52582	T	0.23783943	0.46653	0.17082903	0.39221	0.20582056	0.42736	0.17236112	0.39485	-6.309	0.48793	T	.	.	0.067	0.03093	B	.;.	.;.	1.641907	0.20951	14.99	0.94755494463294709	0.25460	0.98048	0.79160	D	AEFBI	0.497821	0.53218	N	-0.101113329243474	0.37345	2.171319	0.0607145502927091	0.42593	2.578897	0.862192913373152	0.25248	0.706548	0.73137	0	0.588066	0.40923	0	0.724815	0.87919	0	0.668105	0.65232	0	.	.	5.98	4.11	0.47350	4.095000	0.57456	3.607000	0.39241	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0658:0.1235:0.8106:0.0	11.843	0.51639	944	0.12746	Serine-threonine/tyrosine-protein kinase, catalytic domain|Serine-threonine/tyrosine-protein kinase, catalytic domain|Protein kinase domain;Serine-threonine/tyrosine-protein kinase, catalytic domain|Serine-threonine/tyrosine-protein kinase, catalytic domain|Protein kinase 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	0.005539	0.000000	0.001359	0.020468	0.000000	0.000000	0.000000	0.011364	0.05	2144.43	184	chr1	64178209	.	G	C	2144.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-3;DP=547;ExcessHet=0;FS=1.144;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.65;ReadPosRankSum=-0.802;SOR=0.751	GT:AD:DP:GQ:PL	0/1:103,81:184:99:2156,0,3119	9	0	1	0
chr1	65392685	65392685	C	G	exonic	DNAJC6	.	nonsynonymous SNV	DNAJC6:NM_001256864:exon12:c.C1723G:p.P575A,DNAJC6:NM_014787:exon12:c.C1552G:p.P518A,DNAJC6:NM_001256865:exon13:c.C1513G:p.P505A	Parkinson disease 19a, juvenile-onset, Autosomal recessive;Parkinson disease 19b, early-onset, Autosomal recessive	415	1106	1	0	0	1	0.000451875	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.439	0.0210348070964	0.0002	.	1.67e-05	9.658e-05	0	0	0	1.512e-05	0	0	1.29e-05	2	154602	rs201900120	4.451e-05	4.446e-05	4.632e-05	4.267e-05	0.0099	3.578e-05	3.26e-05	0.0078	0.0071	0	2.244e-05	0	0	0	0.0099	3.599e-06	4.973e-05	0	1.972e-05	1.97e-05	3.855e-05	0	4.41e-05	5.24e-06	2.45e-06	1.171e-05	6.25e-06	0	0	0	0	0	0	0	4.41e-05	0	0	0.341	0.13610	T	0.396	0.23097	T	0.011	0.21002	B	0.005	0.21540	B	0.000058	0.53742	D	0.171324	0.999736	0.48635	D	1.5	0.37844	L	-2.96	0.92007	D	-0.56	0.18877	N	0.184	0.21056	-0.2619	0.76036	T	0.519	0.82038	D	9	0.13092601	0.24916	T	0.021035	0.43745	T	0.439	0.74306	.	.	0.337439445736	0.33357	0.19864149846702223	0.19781	0.31714013456	0.33961	0.47977489233	0.36025	T	0.069394	0.33698	T	-0.123341	0.32578	T	-0.23342	0.51440	T	0.0717002082179946	0.08888	T	0.844516	0.52185	T	0.058517948	0.11782	0.07669368	0.17011	0.058517948	0.11782	0.07669368	0.17011	-3.648	0.18553	T	.	.	0.061	0.01834	B	.;.;.	.;.;.	3.013544	0.40311	21.1	0.89130338975973045	0.18536	0.88358	0.48249	D	AEFBI	0.319602	0.42296	N	-0.0757387046120789	0.38459	2.25282	0.101672348409563	0.44635	2.74136	0.999452607337871	0.39788	0.615465	0.37627	0	0.588015	0.36545	0	0.658983	0.55881	0	0.567892	0.33627	0	.	.	5.65	5.65	0.86881	4.298000	0.58863	7.659000	0.64126	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.586000	0.31041	0.0:1.0:0.0:0.0	19.914	0.97044	786	0.46839	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1579.43	126	chr1	65392685	.	C	G	1579.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.1;DP=488;ExcessHet=0;FS=1.421;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.54;ReadPosRankSum=1.26;SOR=0.537	GT:AD:DP:GQ:PL	0/1:67,59:126:99:1591,0,1791	9	0	1	0
chr1	74571882	74571882	C	G	exonic	ERICH3	.	nonsynonymous SNV	ERICH3:NM_001002912:exon14:c.G3828C:p.E1276D	.	403	1116	3	0	0	3	0.00134228	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.037	.	0.0042	0.00219649	0.0011	0.0124	0.0002	0	0	1.499e-05	0	0	0.0009832	152	154602	rs142226796	0.0004	0.0004	0.0004	0.0003	0.0135	0.0003	0.0003	0.0125	0.0121	0.0135	0.0005	7.652e-05	0	0	0.0005	8.993e-06	0.0009	1.159e-05	0.0032	0.0032	0.0036	0.0029	0.0115	0.0030	0.0029	0.0106	0.0103	0.0115	0	0.0006	0	0	0	0	1.47e-05	0.0028	0	0.013	0.53900	D	0.074	0.42976	T	0.982	0.60036	D	0.832	0.59730	P	.	.	.	.	1	0.08975	N	1.895	0.50365	L	2.32	0.16640	T	-1.46	0.35792	N	0.21	0.23380	-0.9984	0.30367	T	0.021	0.09101	T	9	0.004998088	0.00108	T	.	.	.	0.037	0.09474	0.243	0.17677	0.0482279557977	0.04254	0.0220780391853684	0.02159	0.141599937095	0.15959	.	.	.	0.019531	0.15543	T	-0.665643	0.00058	T	-0.717896	0.04899	T	0.0200777280573402	0.00708	T	0.422958	0.11265	T	0.14939258	0.34061	0.106470466	0.25614	0.14939258	0.34060	0.106470466	0.25614	-5.078	0.37674	T	.	.	0.143	0.31482	B	.	.	1.746831	0.22223	15.53	0.99494416912403316	0.67630	0.15555	0.18969	N	AEFBCI	0.119962	0.23390	N	-0.492199436518495	0.22336	1.191937	-0.67771718702289	0.17519	0.931866	0.0110491733723774	0.12122	0.549168	0.22868	0	0.627178	0.54094	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	4.85	0.263	0.14858	-0.119000	0.10649	0.111000	0.14782	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.0:0.6475:0.0:0.3525	9.940	0.40745	713	0.56348	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001007	0.000000	0.002717	0.000000	0.000000	0.000000	0.000000	0.000000	0.05	2187.43	201	chr1	74571882	.	C	G	2187.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.716;DP=877;ExcessHet=0;FS=11.982;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.88;ReadPosRankSum=-0.637;SOR=1.285	GT:AD:DP:GQ:PL	0/1:113,88:201:99:2199,0,3185	9	0	1	0
chr1	85158755	85158755	A	G	exonic	SYDE2	.	nonsynonymous SNV	SYDE2:NM_032184:exon7:c.T3580C:p.F1194L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.020	0.00654077122755	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.59e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.158	0.23905	T	0.034	0.52727	D	0.0	0.02946	B	0.0	0.01387	B	0.089341	0.20432	N	0.527396	0.998858	0.21853	N	0	0.06538	N	3.28	0.06523	T	1.02	0.01369	N	0.042	0.01498	-0.9316	0.43903	T	0.002	0.00615	T	10	0.023369968	0.00610	T	0.006541	0.17243	T	0.020	0.03691	0.21	0.12781	0.0551355673512	0.04727	0.06610387111215123	0.06549	0.14237696093	0.16047	0.397826164961	0.24766	T	0.004802	0.04217	T	-0.355873	0.04369	T	-0.748963	0.03526	T	0.219421803951263	0.21435	T	0.513449	0.16474	T	0.053474132	0.10124	0.045122	0.05999	0.053474132	0.10124	0.045122	0.05999	-2.743	0.07671	T	.	.	0.392	0.59120	A	.	.	2.506013	0.32358	19.02	0.99124857947199441	0.53089	0.82995	0.42152	D	AEFGBI	0.191288	0.31849	N	-0.773932366158561	0.13992	0.6934386	-0.537640718649593	0.21134	1.141888	0.0731348463355377	0.15624	0.638212	0.43195	0	0.588015	0.36545	0	0.653264	0.51672	0	0.564101	0.26826	0	.	.	5.97	2.91	0.32903	2.498000	0.45023	3.315000	0.37496	-0.114000	0.14653	1.000000	0.71638	1.000000	0.68203	0.977000	0.56843	0.3343:0.3872:0.1116:0.1669	1.797	0.02879	676	0.60355	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.15	358.95	87	chr1	85158755	.	A	G	358.95	.	AC=3;AF=0.15;AN=20;BaseQRankSum=-1.747;DP=688;ExcessHet=0.7463;FS=75.313;InbreedingCoeff=-0.2081;MLEAC=3;MLEAF=0.15;MQ=60;MQRankSum=0;QD=1.64;ReadPosRankSum=0.195;SOR=8.431	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:68,19:87:42:.:.:42,0,1638:.	7	0	3	0
chr1	85158757	85158757	C	G	exonic	SYDE2	.	nonsynonymous SNV	SYDE2:NM_032184:exon7:c.G3578C:p.S1193T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.060	0.00707251258688	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.064	0.44905	T	0.132	0.27209	B	0.031	0.21939	B	0.000003	0.62929	D	0.141141	0.856995	0.28413	N	2.89	0.83701	M	3.03	0.08898	T	-1.07	0.27876	N	0.197	0.21710	-1.0013	0.29545	T	0.008	0.02926	T	10	0.10845104	0.20189	T	0.007073	0.18731	T	0.060	0.17295	0.133	0.03747	0.115124310173	0.11017	0.1666088604543345	0.16580	0.261245587848	0.28675	0.516227483749	0.41095	T	0.015102	0.12732	T	-0.18471	0.23038	T	-0.503099	0.22027	T	0.930839061737061	0.59580	D	0.288071	0.05188	T	0.4173487	0.61915	0.2945027	0.55481	0.4173487	0.61916	0.2945027	0.55480	-4.469	0.30481	T	.	.	0.083	0.09094	B	.	.	1.981754	0.25175	16.67	0.98157459387076473	0.38747	0.94396	0.61032	D	AEFGBI	0.405519	0.47837	N	-0.0772867669948402	0.38391	2.247741	0.106188889006462	0.44865	2.760029	0.995644873868107	0.34242	0.638212	0.43195	0	0.588015	0.36545	0	0.653264	0.51672	0	0.564101	0.26826	0	.	.	5.97	5.05	0.67566	3.147000	0.50335	2.710000	0.34229	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.989000	0.64315	0.0:0.7371:0.2629:0.0	15.424	0.74759	676	0.60355	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.35	1448.14	72	chr1	85158757	.	C	G	1448.14	.	AC=7;AF=0.35;AN=20;BaseQRankSum=-0.334;DP=723;ExcessHet=15.1594;FS=160.488;InbreedingCoeff=-0.8658;MLEAC=7;MLEAF=0.35;MQ=60;MQRankSum=0;QD=2.56;ReadPosRankSum=0.981;SOR=10.441	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:44,25:72:99:.:.:400,0,1300:.	3	0	7	0
chr1	86580219	86580225	ACCTACT	0	exonic	CLCA4	.	.	.	.	466	116	49	1	890	941	0.180212	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7	4548.25	276	chr1	86580219	.	ACCTACT	*	4548.25	.	AC=14;AF=0.7;AN=20;BaseQRankSum=-0.525;DP=2733;ExcessHet=2.8389;FS=1.255;InbreedingCoeff=-0.3333;MLEAC=14;MLEAF=0.7;MQ=60;MQRankSum=0;QD=1.81;ReadPosRankSum=0.846;SOR=0.825	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,276:276:99:.:.:11789,832,0:.	1	5	4	0
chr1	93239851	93239851	T	G	exonic	CCDC18	.	stopgain	CCDC18:NM_001306076:exon21:c.T2933G:p.L978X,CCDC18:NM_001378204:exon21:c.T2936G:p.L979X,CCDC18:NM_206886:exon21:c.T2936G:p.L979X	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.151	.	.	.	8.314e-06	0	0	0	0	1.505e-05	0	0	6.5e-06	1	154602	rs764868486	3.423e-06	3.42e-06	5.45e-06	1.376e-06	4.499e-06	1e-06	7.3e-07	1.32e-06	9.6e-07	0	0	0	0	0	0	4.499e-06	0	0	6.57e-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	.	.	.	.	.	.	.	.	.	.	.	.	0.018426	0.27485	N	0.291167	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.457	0.49420	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.468487	0.93276	D	0.435172	0.93191	D	0.994761526584625	0.86260	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive;.;.	High;.;.	8.377605	0.97493	37	0.99169982792758415	0.54355	0.86003	0.45206	D	AEFBCI	0.682655	0.64560	D	0.964087512073847	0.94527	12.82842	0.790583216188882	0.89132	9.850697	0.868090131995479	0.25359	0.706548	0.73137	0	0.724815	0.89359	0	0.608884	0.39905	0	0.528226	0.09195	0	.	.	5.73	5.73	0.89730	4.290000	0.58812	.	.	0.665000	0.62972	0.979000	0.35152	1.000000	0.68203	1.000000	0.97212	0.0:0.0:0.0:1.0	16.019	0.80268	436	0.80373	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1667	127.59	78	chr1	93239851	.	T	G	127.59	.	AC=1;AF=0.167;AN=6;BaseQRankSum=-0.994;DP=404;ExcessHet=0;FS=226.191;InbreedingCoeff=-0.1826;MLEAC=2;MLEAF=0.333;MQ=60;MQRankSum=0;QD=1.64;ReadPosRankSum=-0.219;SOR=7.378	GT:AD:DP:GQ:PL	0/1:54,24:78:99:132,0,1041	2	0	1	7
chr1	94174207	94174207	C	T	exonic	ARHGAP29	.	nonsynonymous SNV	ARHGAP29:NM_001328665:exon22:c.G3256A:p.A1086T,ARHGAP29:NM_001328667:exon22:c.G3256A:p.A1086T,ARHGAP29:NM_001328664:exon23:c.G3448A:p.A1150T,ARHGAP29:NM_001328666:exon23:c.G3421A:p.A1141T,ARHGAP29:NM_004815:exon23:c.G3448A:p.A1150T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	0.0055344069245	.	0.000199681	7.416e-05	0	0	0	0	0.0001	0	6.058e-05	7.12e-05	11	154602	rs149136237	6.362e-05	6.362e-05	5.173e-05	7.563e-05	0.0007	5.294e-05	4.911e-05	0.0003	0.0002	0	2.236e-05	7.652e-05	0	0	0.0007	4.586e-05	4.967e-05	0.0004	4.599e-05	4.593e-05	1.286e-05	8.062e-05	0.0002	2.109e-05	1.527e-05	1.973e-05	1.125e-05	2.407e-05	0	0	0	0	0	0.0034	5.883e-05	0	0.0002	0.269	0.16091	T	0.257	0.23231	T	0.011	0.15914	B	0.003	0.08700	B	0.434958	0.12701	N	0.646179	0.999949	0.19238	N	1.71	0.44315	L	1.9	0.23486	T	-0.22	0.10480	N	0.028	0.00618	-0.9983	0.30395	T	0.013	0.05321	T	10	0.023409218	0.00611	T	0.005534	0.14258	T	0.014	0.01968	.	.	0.147330786459	0.14319	0.21072314373547518	0.20988	0.136285349207	0.15377	0.334223479033	0.15570	T	0.024537	0.18521	T	-0.468263	0.00871	T	-0.650725	0.08903	T	0.026966856953142	0.01539	T	0.593841	0.21938	T	0.023769194	0.01146	0.043708596	0.05498	0.023769194	0.01146	0.043708596	0.05497	-3.197	0.12444	T	.	.	0.070	0.03301	B	.	.	0.501083	0.08699	5.474	0.85553971296442044	0.15965	0.13317	0.17787	N	AEFBCI	0.092139	0.18656	N	-1.1189487333142	0.06306	0.2899408	-1.09704822227857	0.07758	0.3786391	0.838522006717427	0.24823	0.67177	0.52595	0	0.627178	0.54094	0	0.653264	0.51672	0	0.711	0.71501	0	.	.	5.31	2.41	0.28644	-0.152000	0.10145	-2.739000	0.03412	-0.230000	0.07744	0.001000	0.13787	0.000000	0.08366	0.076000	0.17014	0.1313:0.5847:0.0:0.284	5.217	0.14668	813	0.42397	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	3125.43	172	chr1	94174207	.	C	T	3125.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.94;DP=539;ExcessHet=0;FS=2.74;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=18.17;ReadPosRankSum=-0.317;SOR=0.576	GT:AD:DP:GQ:PL	0/1:66,106:172:99:3137,0,1567	9	0	1	0
chr1	99884400	99884400	T	C	exonic	AGL	.	nonsynonymous SNV	AGL:NM_000028:exon19:c.T2495C:p.I832T,AGL:NM_000642:exon19:c.T2495C:p.I832T,AGL:NM_000643:exon19:c.T2495C:p.I832T,AGL:NM_000644:exon19:c.T2495C:p.I832T,AGL:NM_000646:exon19:c.T2447C:p.I816T	Glycogen storage disease IIIa, Autosomal recessive;Glycogen storage disease IIIb, Autosomal recessive	.	.	.	.	.	.	.	.	.	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	0.153	0.0122640309764	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.38e-06	6.716e-05	1.374e-06	1.386e-06	9.081e-07	2.3e-07	9e-08	.	.	0	0	0	0	0	0	9.081e-07	1.668e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.124	0.27426	T	0.026	0.56640	D	0.0	0.21573	B	0.001	0.24526	B	0.000055	0.53742	D	0.164392	0.996604	0.43303	D	0.75	0.19020	N	1.65	0.27650	T	-0.36	0.13035	N	0.436	0.50327	-1.0535	0.13440	T	0.016	0.06711	T	10	0.188252	0.34372	T	0.012264	0.30673	T	0.153	0.40148	0.481	0.56142	0.347438807231	0.34349	0.6957915828848406	0.69520	0.0479730424621	0.05229	0.57926928997	0.49983	T	0.024605	0.18561	T	-0.114689	0.33995	T	-0.402519	0.33091	T	0.689807772636414	0.40239	D	0.921208	0.71446	D	0.15030582	0.34224	0.15235546	0.35850	0.15030582	0.34224	0.15235546	0.35849	-7.468	0.57385	T	0.12742211284755814	0.13043	0.196	0.46493	B	.;.;.;.;.	.;.;.;.;.	3.585879	0.50577	23.0	0.98956683015017666	0.49246	0.98949	0.89045	D	AEFBI	0.617707	0.60379	D	-0.259290584713923	0.30734	1.716485	0.0117534508968653	0.40260	2.399848	0.999723963512748	0.42220	0.651	0.46895	0	0.708844	0.79440	0	0.670488	0.60580	0	0.683762	0.67416	0	.	.	5.8	5.8	0.92081	5.882000	0.69458	7.878000	0.72341	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:0.0:0.0:1.0	16.134	0.81276	855	0.34697	Glycogen debranching enzyme, central domain;Glycogen debranching enzyme, central domain;Glycogen debranching enzyme, central domain;Glycogen debranching enzyme, central domain;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.25	1070.13	151	chr1	99884400	.	T	C	1070.13	.	AC=5;AF=0.25;AN=20;BaseQRankSum=-3.868;DP=818;ExcessHet=2.8389;FS=160.887;InbreedingCoeff=-0.3327;MLEAC=5;MLEAF=0.25;MQ=60;MQRankSum=0;QD=2.31;ReadPosRankSum=1.64;SOR=9.781	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:125,26:151:21:.:.:21,0,3025:.	5	0	5	0
chr1	108934711	108934711	C	T	exonic	CLCC1	.	nonsynonymous SNV	CLCC1:NM_001278203:exon6:c.G1060A:p.G354R,CLCC1:NM_001278202:exon10:c.G1252A:p.G418R,CLCC1:NM_001377469:exon10:c.G1513A:p.G505R,CLCC1:NM_001048210:exon11:c.G1615A:p.G539R,CLCC1:NM_001377460:exon11:c.G1615A:p.G539R,CLCC1:NM_001377461:exon11:c.G1615A:p.G539R,CLCC1:NM_001377462:exon11:c.G1615A:p.G539R,CLCC1:NM_001377463:exon11:c.G1615A:p.G539R,CLCC1:NM_001377464:exon11:c.G1615A:p.G539R,CLCC1:NM_015127:exon11:c.G1465A:p.G489R,CLCC1:NM_001377458:exon12:c.G1615A:p.G539R,CLCC1:NM_001377459:exon12:c.G1615A:p.G539R,CLCC1:NM_001377465:exon12:c.G1615A:p.G539R,CLCC1:NM_001377466:exon12:c.G1615A:p.G539R,CLCC1:NM_001377467:exon12:c.G1615A:p.G539R,CLCC1:NM_001377468:exon12:c.G1615A:p.G539R,CLCC1:NM_001377470:exon12:c.G1324A:p.G442R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.044	0.0101264820097	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.052e-06	2.052e-06	0	4.126e-06	1.799e-06	5.5e-07	1.5e-07	3e-07	1.1e-07	0	0	0	0	0	0	1.799e-06	1.657e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.005	0.63226	D	0.037	0.51737	D	0.004	0.12183	B	0.004	0.11217	B	0.726119	0.06342	N	1.158390	1	0.08975	N	1.155	0.29575	L	0.46	0.56281	T	-1.43	0.35194	N	0.154	0.15888	-1.0286	0.20908	T	0.032	0.13635	T	10	0.12432578	0.23613	T	0.010126	0.26302	T	0.044	0.11924	0.632	0.76810	0.212008924253	0.20833	0.060338255716156725	0.05973	.	.	0.307236075401	0.11488	T	0.010443	0.09434	T	-0.242059	0.15088	T	-0.585477	0.14060	T	0.0899233116284713	0.11209	T	0.768923	0.39853	T	0.059903115	0.12228	0.04736129	0.06805	0.059903115	0.12228	0.04736129	0.06804	-4.481	0.31741	T	.	.	0.116	0.33664	B	.;.;.;.;.;.	.;.;.;.;.;.	1.133450	0.15202	11.67	0.90238710161639601	0.19511	0.04193	0.09698	N	AEFGBI	0.056662	0.10492	N	-1.22193882928207	0.04683	0.2118738	-1.22464186262697	0.05516	0.2630451	0.00668897266867782	0.11281	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.37	-0.0897	0.13003	0.150000	0.16082	0.472000	0.18721	-0.176000	0.10722	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.4751:0.2775:0.2475	5.128	0.14225	861	0.33516	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	1129.43	85	chr1	108934711	.	C	T	1129.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.34;DP=422;ExcessHet=0;FS=1.873;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.29;ReadPosRankSum=2.09;SOR=0.922	GT:AD:DP:GQ:PL	0/1:44,41:85:99:1141,0,1168	9	0	1	0
chr1	109251497	109251497	G	C	exonic	CELSR2	.	nonsynonymous SNV	CELSR2:NM_001408:exon1:c.G1418C:p.R473P	.	.	.	.	.	.	.	.	.	.	.	3798132	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.392	0.0249482563292	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.038	0.42783	D	0.003	0.76473	D	1.0	0.90584	D	0.996	0.84481	D	.	.	.	.	0.992752	0.41734	D	0.57	0.15267	N	4.65	0.01779	T	-4.85	0.81107	D	0.882	0.88027	-0.4922	0.68930	T	0.009	0.03183	T	9	0.8983073	0.89188	D	0.024948	0.47933	T	0.392	0.70764	0.618	0.75232	0.579960410888	0.57666	0.8783394655290764	0.87800	1.4404443071	0.85963	0.668531298637	0.62628	T	0.362915	0.72874	T	0.163834	0.70555	D	-0.00244044	0.70177	D	0.915475487709045	0.57252	D	0.976502	0.91818	D	0.72708285	0.79559	0.5992984	0.76725	0.72708285	0.79560	0.5992984	0.76726	-16.351	0.98240	D	0.6049259967677886	0.67214	0.930	0.84988	P	.	.	4.276878	0.65116	24.8	0.99181936154728245	0.54701	0.95638	0.65526	D	AEFDGBCI	0.937621	0.93565	D	0.395659730073271	0.61186	4.316391	0.325835940905676	0.57063	3.870854	0.999999999993742	0.74766	0.718356	0.82227	0	0.626922	0.53725	0	0.570548	0.19454	0	0.616125	0.45549	0	.	.	4.82	4.82	0.61641	10.003000	0.99689	11.929000	0.99898	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.008000	0.08271	0.0:0.0:1.0:0.0	18.163	0.89648	764	0.49969	Cadherin-like|Cadherin-like	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	2952.43	251	chr1	109251497	.	G	C	2952.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.05;DP=605;ExcessHet=0;FS=0.973;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.76;ReadPosRankSum=-0.414;SOR=0.609	GT:AD:DP:GQ:PL	0/1:132,119:251:99:2964,0,3095	9	0	1	0
chr1	109508616	109508616	G	C	exonic	AMIGO1	.	nonsynonymous SNV	AMIGO1:NM_020703:exon2:c.C297G:p.N99K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.048	0.00471979587979	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.402e-05	0.0008	2.459e-05	2.345e-05	0.0002	1.744e-05	1.544e-05	2.006e-05	1.747e-05	5.989e-05	0	0	0	0	0.0002	2.799e-05	1.66e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.018	0.50676	D	0.096	0.39340	T	0.375	0.34209	B	0.25	0.39011	B	0.023848	0.26367	N	0.283710	0.989351	0.40936	D	-0.805	0.01590	N	4.38	0.02255	T	-0.42	0.14193	N	0.251	0.32481	-0.9074	0.47168	T	0.002	0.00526	T	10	0.13895068	0.26423	T	0.00472	0.11753	T	0.048	0.13305	0.424	0.46857	0.303871581278	0.30001	0.3848348631254194	0.38398	1.20472787136	0.80666	0.608450233936	0.54097	T	0.010575	0.09538	T	-0.290714	0.09565	T	-0.655367	0.08582	T	0.544324159622192	0.34265	D	0.79742	0.44137	T	0.08433104	0.19514	0.09508742	0.22536	0.08433104	0.19513	0.09508742	0.22536	-4.691	0.33295	T	.	.	0.266	0.50527	B	.;.	.;.	1.875938	0.23830	16.17	0.98865697297219557	0.47545	0.82763	0.41947	D	AEFBCI	0.391245	0.46976	N	-0.506877925592794	0.21857	1.163021	-0.39326206815582	0.25196	1.384239	0.905472008325259	0.26205	0.676563	0.55306	0	0.610034	0.51514	0	0.673471	0.61138	0	0.579976	0.35079	0	.	.	4.99	1.09	0.19517	1.118000	0.30860	3.404000	0.38147	0.676000	0.76740	0.809000	0.29839	1.000000	0.68203	1.000000	0.97212	0.304:0.0:0.696:0.0	9.065	0.35621	615	0.66512	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.3571	1445.29	96	chr1	109508616	.	G	C	1445.29	.	AC=5;AF=0.357;AN=14;BaseQRankSum=-2.994;DP=840;ExcessHet=2.8389;FS=240.489;InbreedingCoeff=-0.4815;MLEAC=6;MLEAF=0.429;MQ=60;MQRankSum=0;QD=2.91;ReadPosRankSum=1.33;SOR=9.796	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:77,16:96:99:.:.:276,0,2907:.	2	0	5	3
chr1	109508617	109508617	T	C	exonic	AMIGO1	.	nonsynonymous SNV	AMIGO1:NM_020703:exon2:c.A296G:p.N99S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.152	0.00377047473703	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.055e-06	0.0002	2.726e-06	1.377e-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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.798	0.03134	T	1.0	0.01155	T	0.001	0.07471	B	0.005	0.11217	B	0.023848	0.26367	N	0.283710	0.744098	0.29705	N	-1.225	0.00812	N	4.52	0.01997	T	0.92	0.01573	N	0.044	0.04072	-0.9142	0.46325	T	0.001	0.00318	T	10	0.027937263	0.00931	T	0.00377	0.08775	T	0.152	0.39956	0.237	0.16760	0.21174354426	0.20776	0.18114392568070153	0.18033	0.765883629124	0.64500	0.483428955078	0.36529	T	0.005866	0.05316	T	-0.395562	0.02475	T	-0.805974	0.01758	T	0.0602567331267085	0.07209	T	0.826617	0.49005	T	0.038544018	0.05153	0.047732275	0.06941	0.038544018	0.05153	0.047732275	0.06940	-0.373	0.00511	T	.	.	0.064	0.01884	B	.;.	.;.	1.840698	0.23383	16.00	0.57174240635056761	0.05711	0.18455	0.20267	N	AEFBCI	0.212306	0.33801	N	-0.740697034335553	0.14888	0.7454824	-0.519573181039383	0.21622	1.170563	0.989457814758624	0.31831	0.676563	0.55306	0	0.610034	0.51514	0	0.673471	0.61138	0	0.579976	0.35079	0	.	.	4.99	4.99	0.65942	-0.133000	0.10430	2.868000	0.35247	0.665000	0.62972	0.001000	0.13787	1.000000	0.68203	1.000000	0.97212	0.0:0.0899:0.1832:0.7269	5.179	0.14477	615	0.66512	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1	364.14	97	chr1	109508617	.	T	C	364.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-2.063;DP=649;ExcessHet=0.2348;FS=164.258;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=2;ReadPosRankSum=1.17;SOR=7.327	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:77,20:97:99:0|1:109508617_T_C:343,0,2845:109508617	8	0	2	0
chr1	109508618	109508618	T	C	exonic	AMIGO1	.	nonsynonymous SNV	AMIGO1:NM_020703:exon2:c.A295G:p.N99D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.050	0.00431994233541	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	6.43e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.024	0.47745	D	0.098	0.39040	T	0.046	0.21875	B	0.204	0.37039	B	0.023848	0.26367	N	0.283710	0.837229	0.28680	N	-0.135	0.04517	N	4.32	0.02387	T	-0.65	0.18877	N	0.264	0.35301	-0.9012	0.47868	T	0.003	0.00832	T	10	0.09139174	0.16007	T	0.00432	0.10498	T	0.050	0.13987	0.302	0.27003	0.35421846163	0.35036	0.42623265837729346	0.42540	1.16636633486	0.79636	0.593713998795	0.52018	T	0.016495	0.13623	T	-0.33	0.06112	T	-0.711798	0.05203	T	0.54811829328537	0.34407	D	0.660634	0.26999	T	0.10292237	0.24323	0.1119965	0.27018	0.10292237	0.24322	0.1119965	0.27018	-2.193	0.04007	T	.	.	0.145	0.32079	B	.;.	.;.	1.909142	0.24245	16.33	0.98833880806686136	0.47002	0.33936	0.24948	N	AEFBCI	0.215332	0.34070	N	-0.58773012198282	0.19317	1.009999	-0.480569429772215	0.22688	1.233631	0.896117992834435	0.25970	0.676563	0.55306	0	0.610034	0.51514	0	0.673471	0.61138	0	0.579976	0.35079	0	.	.	4.99	2.58	0.30011	-0.458000	0.06813	0.851000	0.22138	0.665000	0.62972	0.000000	0.06391	1.000000	0.68203	1.000000	0.97212	0.1294:0.0:0.2917:0.5789	6.884	0.23373	615	0.66512	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.15	214.45	96	chr1	109508618	.	T	C	214.45	.	AC=3;AF=0.15;AN=20;BaseQRankSum=-3.512;DP=634;ExcessHet=0.7463;FS=90.79;InbreedingCoeff=-0.1765;MLEAC=3;MLEAF=0.15;MQ=60;MQRankSum=0;QD=0.72;ReadPosRankSum=1.12;SOR=7.784	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:80,16:96:99:0|1:109508617_T_C:129,0,2968:109508617	7	0	3	0
chr1	111414961	111414961	A	0	exonic	OVGP1	.	.	.	.	423	578	414	100	7	621	0.346893	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	1571.06	110	chr1	111414961	.	A	*	1571.06	.	AC=4;AF=0.2;AN=20;BaseQRankSum=2.5;DP=805;ExcessHet=0.2065;FS=0.523;InbreedingCoeff=0.2;MLEAC=4;MLEAF=0.2;MQ=60;MQRankSum=0;QD=3.69;ReadPosRankSum=2.12;SOR=0.756	GT:AD:DP:GQ:PL	0/1:63,47:110:99:1768,0,2398	6	0	4	0
chr1	111414970	111414970	A	0	exonic	OVGP1	.	.	.	.	427	574	414	100	7	621	0.348468	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	1837.02	110	chr1	111414970	.	A	*	1837.02	.	AC=4;AF=0.2;AN=20;DP=807;ExcessHet=0.2065;FS=0;InbreedingCoeff=0.2;MLEAC=4;MLEAF=0.2;MQ=60;QD=4.32;SOR=0.707	GT:AD:DP:GQ:PL	0/1:63,47:110:99:1768,0,2398	6	0	4	0
chr1	111477698	111477698	G	A	exonic	C1orf162	.	nonsynonymous SNV	C1orf162:NM_001300835:exon4:c.G163A:p.V55I,C1orf162:NM_174896:exon5:c.G250A:p.V84I	.	420	1082	19	1	0	21	0.00961098	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009	0.00409375774602	0.0005	0.00159744	0.0016	0.0002	0.0009	0	0	0.0006	0.0022	0.0090	0.0013907	215	154602	rs140103670	0.0010	0.0010	0.0007	0.0012	0.0082	0.0009	0.0009	0.0077	0.0075	0.0001	0.0006	0.0010	0	0	0.0045	0.0005	0.0011	0.0082	0.0006	0.0006	0.0006	0.0006	0.0069	0.0005	0.0005	0.0050	0.0044	0.0001	0	0.0003	0.0012	0	0	0	0.0006	0.0005	0.0069	0.229	0.18371	T	0.427	0.13832	T	0.046	0.21875	B	0.011	0.15521	B	0.095398	0.02496	N	2.152440	1	0.08975	N	0.69	0.16971	N	0.75	0.50192	T	-0.17	0.09627	N	0.099	0.08088	-1.0725	0.08873	T	0.027	0.11485	T	10	0.0035338998	0.00063	T	0.004094	0.09775	T	0.009	0.00846	.	.	0.0138822411134	0.00435	0.0694724589363589	0.06885	0.417457423283	0.42365	.	.	.	0.002328	0.01720	T	-0.659428	0.00063	T	-0.714026	0.05090	T	0.00108029322057687	0.00010	T	0.322168	0.06550	T	0.035075165	0.04059	0.033002805	0.02125	0.035075165	0.04059	0.033002805	0.02125	-3.601	0.17871	T	.	.	0.112	0.21987	B	.	.	0.585064	0.09533	6.312	0.92389584783126355	0.21800	0.01920	0.05866	N	AEFDBI	0.032020	0.03537	N	-1.30145367959959	0.03659	0.1638355	-1.36204659220269	0.03666	0.1714712	0.999820827371025	0.43622	0.600919	0.35232	0	0.596877	0.49441	0	0.624306	0.44879	0	0.613276	0.41899	0	.	.	4.1	-2.52	0.05978	0.261000	0.18211	1.116000	0.24201	-0.106000	0.15538	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.5629:0.0:0.2656:0.1714	4.289	0.10313	651	0.62880	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.005539	0.000000	0.001359	0.000000	0.000000	0.017241	0.012195	0.018939	0.05	1378.43	111	chr1	111477698	.	G	A	1378.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.624;DP=467;ExcessHet=0;FS=3.73;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.42;ReadPosRankSum=0.446;SOR=1.147	GT:AD:DP:GQ:PL	0/1:57,54:111:99:1390,0,1490	9	0	1	0
chr1	114732648	114732648	C	G	exonic	CSDE1	.	nonsynonymous SNV	CSDE1:NM_001242893:exon8:c.G913C:p.V305L,CSDE1:NM_001242892:exon9:c.G1006C:p.V336L,CSDE1:NM_007158:exon9:c.G913C:p.V305L,CSDE1:NM_001007553:exon10:c.G1006C:p.V336L,CSDE1:NM_001130523:exon10:c.G1051C:p.V351L,CSDE1:NM_001242891:exon11:c.G1144C:p.V382L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.141	0.00302580783907	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.572e-05	0.0005	3.966e-05	3.175e-05	4.338e-05	2.774e-05	2.512e-05	3.36e-05	2.971e-05	0	0	3.834e-05	0	0	0	4.338e-05	3.322e-05	1.161e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	1.0	0.01155	T	0.019	0.17989	B	0.007	0.12992	B	0.000054	0.53742	D	0.166893	0.995854	0.46032	D	-1.005	0.01165	N	.	.	.	1.46	0.00775	N	0.49	0.52651	-0.9514	0.40730	T	0.015	0.06186	T	9	0.1688331	0.31457	T	0.003026	0.06487	T	0.141	0.37795	0.283	0.23961	0.438345833192	0.43453	0.47999988597583465	0.47919	0.664778676347	0.59103	0.696112155914	0.66584	T	0.116941	0.43665	T	-0.00863497	0.50457	T	-0.25018	0.49799	T	0.698000967502594	0.40624	D	0.917108	0.76468	D	0.059146494	0.11985	0.09358893	0.22112	0.059146494	0.11985	0.09358893	0.22111	-6.727	0.59015	T	.	.	0.240	0.47513	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	4.228914	0.64023	24.7	0.79526294004721843	0.12782	0.91046	0.52754	D	AEFBCI	0.679294	0.64337	D	-0.4128236221243	0.25018	1.355104	-0.0758002100467609	0.36392	2.117378	0.809094888011598	0.24323	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.89	5.89	0.94758	4.456000	0.59820	7.732000	0.67763	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.980000	0.58198	0.1424:0.8576:0.0:0.0	15.011	0.71206	854	0.34840	.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	2536.04	155	chr1	114732648	.	C	G	2536.04	.	AC=10;AF=0.5;AN=20;BaseQRankSum=-1.921;DP=1438;ExcessHet=22.563;FS=272.517;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=60;MQRankSum=0;QD=2.06;ReadPosRankSum=1.34;SOR=12.553	GT:AD:DP:GQ:PL	0/1:102,41:155:99:171,0,1593	0	0	10	0
chr1	145872713	145872713	C	G	exonic	ANKRD35	.	nonsynonymous SNV	ANKRD35:NM_001280799:exon8:c.G1786C:p.A596P,ANKRD35:NM_144698:exon10:c.G2056C:p.A686P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.843e-07	6.635e-05	0	1.376e-06	8.997e-07	0	0	.	.	0	0	0	0	0	0	8.997e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	0.39575	D	0.122	0.35710	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.28	0.59037	T	-1.95	0.45222	N	0.526	0.55540	.	.	.	.	.	.	.	0.42498738	0.57114	T	.	.	.	.	.	.	.	.	.	0.8187195895967326	0.81828	.	.	.	.	.	0.082225	0.36779	T	.	.	.	.	.	.	.	.	.	0.812719	0.46458	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.743	0.77826	P	.;.	.;.	3.961182	0.58095	23.9	.	.	.	.	.	.	0.492730	0.52925	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.132000	0.41706	4.040000	0.41416	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.984000	0.60418	.	.	.	.	.	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3	864.97	118	chr1	145872713	.	C	G	864.97	.	AC=6;AF=0.3;AN=20;BaseQRankSum=-2.812;DP=1235;ExcessHet=4.5998;FS=146.997;InbreedingCoeff=-0.4278;MLEAC=6;MLEAF=0.3;MQ=60;MQRankSum=0;QD=1.24;ReadPosRankSum=0.198;SOR=10.364	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:75,34:118:99:.:.:415,0,2292:.	4	0	6	0
chr1	145872714	145872714	C	G	exonic	ANKRD35	.	nonsynonymous SNV	ANKRD35:NM_001280799:exon8:c.G1785C:p.E595D,ANKRD35:NM_144698:exon10:c.G2055C:p.E685D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	0.56456	D	0.069	0.43913	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.39	0.57419	T	-1.48	0.36189	N	0.138	0.13626	.	.	.	.	.	.	.	0.13870499	0.26377	T	.	.	.	.	.	.	.	.	.	0.4799690801717402	0.47916	.	.	.	.	.	0.054385	0.29709	T	.	.	.	.	.	.	.	.	.	0.768923	0.39853	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.180	0.42763	B	.;.	.;.	3.406129	0.47225	22.4	.	.	.	.	.	.	0.196541	0.32351	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.344000	0.19703	1.359000	0.25866	0.599000	0.40250	0.998000	0.41325	1.000000	0.68203	0.977000	0.56843	.	.	.	.	.	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3	816.97	118	chr1	145872714	.	C	G	816.97	.	AC=6;AF=0.3;AN=20;BaseQRankSum=-3.066;DP=1182;ExcessHet=4.5998;FS=151.643;InbreedingCoeff=-0.4278;MLEAC=6;MLEAF=0.3;MQ=60;MQRankSum=0;QD=1.17;ReadPosRankSum=1.04;SOR=10.074	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:80,31:118:99:.:.:367,0,2374:.	4	0	6	0
chr1	145879291	145879291	C	T	exonic	ANKRD35	.	nonsynonymous SNV	ANKRD35:NM_144698:exon2:c.G137A:p.R46Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.099	0.00575104945032	.	.	.	.	.	.	.	.	.	.	.	.	.	rs587648258	3.084e-05	3.147e-05	3.273e-05	2.893e-05	0.0004	2.351e-05	2.099e-05	0.0003	0.0002	6.01e-05	0.0001	0	0.0004	0	0.0002	1.44e-05	4.975e-05	0	0.0001	0.0001	7.714e-05	0.0001	0.0012	6.513e-05	5.324e-05	0.0005	0.0003	4.817e-05	0	0.0001	0	0.0012	0	0	8.823e-05	0	0	0.085	0.32769	T	0.069	0.43913	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.65	0.52642	T	-0.3	0.11913	N	0.32	0.36043	.	.	.	.	.	.	.	0.22956496	0.39887	T	.	.	.	.	.	.	.	.	.	0.7630090900119706	0.76248	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.154	0.34116	B	.	.	3.326036	0.45769	22.2	.	.	.	.	.	.	0.482515	0.52335	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.135000	0.41735	1.398000	0.26172	0.599000	0.40250	0.982000	0.35529	0.783000	0.26796	0.811000	0.38219	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1362.43	85	chr1	145879291	.	C	T	1362.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.784;DP=408;ExcessHet=0;FS=1.807;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=16.03;ReadPosRankSum=0.65;SOR=0.916	GT:AD:DP:GQ:PL	0/1:33,52:85:99:1374,0,788	9	0	1	0
chr1	145899064	145899064	C	T	exonic	ITGA10	.	nonsynonymous SNV	ITGA10:NM_001303041:exon13:c.G1675A:p.A559T,ITGA10:NM_001303040:exon14:c.G1711A:p.A571T,ITGA10:NM_003637:exon17:c.G2104A:p.A702T	.	423	1070	27	2	0	31	0.0142791	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.176	0.00317430332807	.	.	.	.	.	.	.	.	.	.	.	.	.	rs35515885	0.0035	0.0035	0.0034	0.0036	0.0243	0.0034	0.0034	0.0210	0.0198	0.0045	0.0060	0.0215	5.038e-05	0.0011	0.0243	0.0031	0.0062	0.0011	0.0046	0.0047	0.0050	0.0042	0.0064	0.0044	0.0042	0.0054	0.0050	0.0044	0	0.0064	0.0242	0.0002	0.0011	0.0272	0.0043	0.0104	0.0006	0.074	0.34621	T	0.138	0.33780	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.75	0.50192	T	-1.48	0.36189	N	0.137	0.14338	.	.	.	.	.	.	.	0.012380809	0.00266	T	.	.	.	.	.	.	.	.	.	0.9765553922096653	0.97645	.	.	.	.	.	0.056132	0.30201	T	.	.	.	.	.	.	.	.	.	0.875312	0.58632	D	.	.	.	.	.	.	.	.	-9.059	0.68121	D	.	.	0.141	0.30920	B	.;.	.;.	3.764463	0.54031	23.4	.	.	.	.	.	.	0.225467	0.34955	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.890000	0.48308	7.593000	0.61311	0.596000	0.33519	0.990000	0.36992	1.000000	0.68203	0.710000	0.34452	.	.	.	934	0.15400	Integrin alpha-2;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1823.43	154	chr1	145899064	.	C	T	1823.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.72;DP=621;ExcessHet=0;FS=0.598;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.84;ReadPosRankSum=2.05;SOR=0.625	GT:AD:DP:GQ:PL	0/1:87,67:154:99:1835,0,2246	9	0	1	0
chr1	150157445	150157445	C	T	exonic	PLEKHO1	.	nonsynonymous SNV	PLEKHO1:NM_016274:exon5:c.C484T:p.H162Y	.	424	1097	1	0	0	1	0.000455581	.	.	.	3576757	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.054	0.00936936391692	.	.	.	.	.	.	.	.	.	.	7.68e-05	2	26028	rs782450928	4.652e-05	4.72e-05	4.765e-05	4.538e-05	5.486e-05	3.728e-05	3.412e-05	4.352e-05	3.944e-05	0	2.236e-05	0	2.519e-05	0	0	5.486e-05	8.281e-05	0	2.629e-05	2.627e-05	2.57e-05	2.691e-05	5.881e-05	8.14e-06	5.14e-06	1.972e-05	1.125e-05	0	0	0	0	0	0	0	5.881e-05	0	0	0.025	0.47320	D	0.295	0.20680	T	0.01	0.15535	B	0.006	0.12133	B	.	.	.	.	0.999404	0.81001	D	1.63	0.41750	L	2.28	0.17271	T	-2.33	0.51646	N	0.414	0.45426	-1.1181	0.02455	T	0.031	0.13330	T	9	0.15335518	0.28948	T	0.009369	0.24577	T	0.054	0.15330	0.226	0.15109	0.043077524339	0.03247	0.3482261792157467	0.34736	0.767812265315	0.64609	0.76900190115	0.77275	T	0.197101	0.55367	T	-0.258039	0.13130	T	-0.525566	0.19733	T	0.367793053388596	0.27712	T	0.90141	0.65732	D	0.34777147	0.56893	0.29414722	0.55444	0.34777147	0.56893	0.29414722	0.55443	-11.344	0.81511	D	.	.	0.288	0.52018	B	.	.	4.414643	0.68328	25.2	0.99586145670173221	0.73336	0.84938	0.44034	D	AEFDBCIJ	0.441126	0.49940	N	0.0177727889513968	0.42662	2.574855	0.139429189966813	0.46586	2.902084	0.999999997480981	0.74766	0.722319	0.85440	0	0.696144	0.67643	0	0.702456	0.68683	0	0.735409	0.98432	0	.	.	4.69	4.69	0.58546	3.803000	0.55264	7.603000	0.61629	0.599000	0.40250	0.997000	0.40164	1.000000	0.68203	0.719000	0.34739	0.0:1.0:0.0:0.0	17.138	0.86624	330	0.86467	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1048.43	84	chr1	150157445	.	C	T	1048.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.595;DP=404;ExcessHet=0;FS=1.787;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.48;ReadPosRankSum=1.16;SOR=0.724	GT:AD:DP:GQ:PL	0/1:41,43:84:99:1060,0,1198	9	0	1	0
chr1	150159129	150159129	G	A	exonic	PLEKHO1	.	nonsynonymous SNV	PLEKHO1:NM_001304723:exon5:c.G320A:p.R107Q,PLEKHO1:NM_001304724:exon5:c.G287A:p.R96Q,PLEKHO1:NM_001304722:exon6:c.G320A:p.R107Q,PLEKHO1:NM_016274:exon6:c.G836A:p.R279Q	.	427	1071	24	0	0	24	0.0110803	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.075	.	0.0066	0.00519169	0.0102	0.0021	0.0025	0.0001	0.0194	0.0116	0.0170	0.0160	0.0094307	1458	154602	rs41264971	0.0088	0.0088	0.0084	0.0092	0.0179	0.0087	0.0086	0.0172	0.0169	0.0009	0.0029	0.0022	0.0001	0.0215	0.0094	0.0085	0.0083	0.0179	0.0066	0.0066	0.0067	0.0065	0.0135	0.0063	0.0061	0.0109	0.0099	0.0016	0.0011	0.0021	0.0023	0	0.0193	0.0034	0.0091	0.0038	0.0135	0.054	0.47745	T	0.267	0.31225	T	0.905	0.49920	P	0.267	0.39770	B	0.014129	0.28625	N	0.351400	0.984405	0.40141	D	2.135	0.59519	M	0.72	0.50976	T	-1.43	0.35194	N	0.374	0.41557	-1.0613	0.11434	T	0.070	0.28577	T	10	0.0047944784	0.00101	T	.	.	.	0.075	0.21907	.	.	.	.	0.18990143602419438	0.18908	0.464578811842	0.45924	0.511497855186	0.40431	T	0.030915	0.44076	T	-0.406135	0.02109	T	-0.342536	0.40057	T	0.00607151602267701	0.00067	T	0.808919	0.46506	T	0.106724344	0.25235	0.06900925	0.14484	0.106724344	0.25235	0.06900925	0.14484	-3.939	0.22888	T	.	.	0.102	0.17869	B	.;.	.;.	3.784036	0.54430	23.5	0.99942678426939813	0.99848	0.83582	0.42690	D	ALL	0.714528	0.66698	D	0.357264008198067	0.59123	4.089313	0.408174213897655	0.62074	4.416803	0.99999999999741	0.74766	0.730579	0.87903	0	0.672317	0.65289	0	0.702456	0.68683	0	0.648885	0.59868	0	.	.	4.97	4.97	0.65419	3.396000	0.52309	11.733000	0.95036	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.853000	0.40368	0.0:0.1598:0.8402:0.0	13.188	0.59118	330	0.86467	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.009063	0.010101	0.008152	0.005848	0.050000	0.000000	0.006098	0.022727	0.05	1216.43	89	chr1	150159129	.	G	A	1216.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.94;DP=416;ExcessHet=0;FS=0.798;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.67;ReadPosRankSum=0.522;SOR=0.843	GT:AD:DP:GQ:PL	0/1:46,43:89:99:1228,0,1070	9	0	1	0
chr1	152080747	152080747	G	A	exonic	LOC100131107	.	nonsynonymous SNV	LOC100131107:NM_001310142:exon1:c.C61T:p.R21W	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000199681	.	.	.	.	.	.	.	.	6.5e-06	1	154602	rs572211444	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.314e-05	1.312e-05	1.285e-05	1.343e-05	2.94e-05	2.18e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.94e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	2705.43	180	chr1	152080747	.	G	A	2705.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.03;DP=500;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=59.8;MQRankSum=0;QD=15.03;ReadPosRankSum=-1.075;SOR=0.693	GT:AD:DP:GQ:PL	0/1:80,100:180:99:2717,0,1938	9	0	1	0
chr1	152214827	152214827	A	0	exonic	HRNR	.	.	.	.	441	898	8	0	175	183	0.00443459	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3	550.24	308	chr1	152214827	.	A	*	550.24	.	AC=6;AF=0.3;AN=20;BaseQRankSum=4.01;DP=1774;ExcessHet=10.3881;FS=42.431;InbreedingCoeff=-0.6665;MLEAC=6;MLEAF=0.3;MQ=27.67;MQRankSum=2.78;QD=0.34;ReadPosRankSum=-3.783;SOR=9.525	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:283,25:308:99:1|0:152214800_C_T:145,0,11764:152214800	4	0	6	0
chr1	152214830	152214830	C	0	exonic	HRNR	.	.	.	.	441	924	156	0	1	157	0.0778443	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3	470.2	308	chr1	152214830	.	C	*	470.2	.	AC=6;AF=0.3;AN=20;BaseQRankSum=-0.142;DP=1764;ExcessHet=10.3881;FS=42.67;InbreedingCoeff=-0.6665;MLEAC=6;MLEAF=0.3;MQ=27.6;MQRankSum=2.83;QD=0.3;ReadPosRankSum=-4.464;SOR=9.527	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:283,25:308:99:1|0:152214800_C_T:145,0,11764:152214800	4	0	6	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	4204.43	1597	chr1	152306286	.	A	C	4204.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-6.076;DP=5189;ExcessHet=0;FS=0.813;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=52.05;MQRankSum=-11.17;QD=2.63;ReadPosRankSum=7.78;SOR=0.586	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:1392,205:1597:99:0|1:152306186_A_G:4216,0,57234:152306186	9	0	1	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	4058.39	1637	chr1	152306292	.	G	GCC	4058.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-4.743;DP=5208;ExcessHet=0;FS=0.816;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=52.46;MQRankSum=-11.69;QD=2.48;ReadPosRankSum=7.21;SOR=0.582	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:1433,204:1637:99:0|1:152306186_A_G:4070,0,59106:152306186	9	0	1	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	3929.39	1647	chr1	152306294	.	ATG	A	3929.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-3.266;DP=5218;ExcessHet=0;FS=1.787;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=52.71;MQRankSum=-11.94;QD=2.39;ReadPosRankSum=6.69;SOR=0.646	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:1447,200:1647:99:0|1:152306186_A_G:3941,0,60036:152306186	9	0	1	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	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	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	3742.43	1638	chr1	152306299	.	T	A	3742.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.56;DP=5209;ExcessHet=0;FS=1.859;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=53.02;MQRankSum=-12.06;QD=2.28;ReadPosRankSum=5.88;SOR=0.747	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:1445,193:1638:99:0|1:152306186_A_G:3754,0,60094:152306186	9	0	1	0
chr1	152306354	152306354	-	TTG	exonic	FLG	.	nonframeshift insertion	FLG:NM_002016:exon3:c.8531_8532insCAA:p.E2844delinsDK	Ichthyosis vulgaris, Autosomal dominant	0	1513	2	0	7	9	0.000660502	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1448728360	0.0001	0.0006	0.0001	9.383e-05	0.0049	8.949e-05	8.431e-05	0.0043	0.0040	0.0049	4.489e-05	0	0	0	0	8.997e-07	3.325e-05	0	4.259e-05	0.0057	4.174e-05	4.348e-05	0.0004	1.829e-05	1.204e-05	7.208e-05	2.998e-05	6.25e-05	0	6.77e-05	0	0.0004	0	0	1.484e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	198.39	1440	chr1	152306354	.	C	CTTG	198.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=5.17;DP=5331;ExcessHet=0;FS=5.868;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=53.05;MQRankSum=-6.089;QD=0.14;ReadPosRankSum=-10.83;SOR=1.468	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:1339,101:1440:99:0|1:152306186_A_G:210,0,55920:152306186	9	0	1	0
chr1	152354961	152355191	GAACTTGACCCATGTTGACCATAGCCAGATGACTGACTTGAGCCAGAACCATGTTGGCCATAGCTAGACTGATGTGATCTAGACTCATGTTGTCCAAAACCAGAGTATTGTCCTGAGCCAGTCCCATGTTGTCCAAAGCCACTGGACTGACCTGAGCCTGATCCATGTTGTCCAAAGCCAGAGTATTGACCTGAGCTTGACCTGTGTTGTCCAAAGCCAGATGTCTGTCCC	-	exonic	FLG2	.	nonframeshift deletion	FLG2:NM_001014342:exon3:c.2595_2825del:p.S869_T945del	.	431	1042	9	40	0	89	0.0409572	.	.	.	970660	Peeling_skin_syndrome_6	MONDO:MONDO:0054852,MedGen:C4748093,OMIM:618084	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	.	.	.	.	0.0191	0.0006	0.0400	0.0837	0.0047	0.0089	0.0187	0.0291	.	.	.	.	0.0081	0.0082	0.0075	0.0087	0.0761	0.0080	0.0079	0.0738	0.0729	0.0005	0.0381	0.0193	0.0761	0.0037	0.0142	0.0032	0.0101	0.0253	0.0039	0.0046	0.0039	0.0039	0.0185	0.0037	0.0035	0.0154	0.0143	0.0005	0.0011	0.0088	0.0145	0.0185	0.0033	0.0076	0.0033	0.0015	0.0063	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	15793.1	555	chr1	152354960	.	TGAACTTGACCCATGTTGACCATAGCCAGATGACTGACTTGAGCCAGAACCATGTTGGCCATAGCTAGACTGATGTGATCTAGACTCATGTTGTCCAAAACCAGAGTATTGTCCTGAGCCAGTCCCATGTTGTCCAAAGCCACTGGACTGACCTGAGCCTGATCCATGTTGTCCAAAGCCAGAGTATTGACCTGAGCTTGACCTGTGTTGTCCAAAGCCAGATGTCTGTCCC	T	15793.1	.	AC=2;AF=0.1;AN=20;DP=1749;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.1;MQ=58.43;QD=28.46;SOR=0.911	GT:AD:DP:GQ:PL	1/1:0,555:555:99:15816,1403,0	9	1	0	0
chr1	154946734	154946734	G	A	exonic	PBXIP1	.	nonsynonymous SNV	PBXIP1:NM_001317735:exon7:c.C475T:p.R159W,PBXIP1:NM_001317734:exon9:c.C853T:p.R285W,PBXIP1:NM_020524:exon10:c.C940T:p.R314W	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.251	0.0313472216474	7.8e-05	.	7.123e-05	0	0	0	0	8.02e-05	0	0.0002	5.82e-05	9	154602	rs375303520	6.272e-05	6.567e-05	4.515e-05	8.056e-05	0.0002	5.2e-05	4.816e-05	0.0001	0.0001	3.016e-05	6.832e-05	0	7.609e-05	0	0	5.431e-05	8.366e-05	0.0002	6.568e-05	6.566e-05	6.421e-05	6.721e-05	9.645e-05	3.515e-05	2.615e-05	3.761e-05	2.575e-05	9.645e-05	0	0	0	0	0	0	8.818e-05	0	0	0.0	0.91255	D	0.001	0.83351	D	1.0	0.90584	D	0.989	0.78396	D	0.132863	0.18571	N	0.508271	0.994018	0.42131	D	1.895	0.50365	L	2.04	0.20808	T	-6.25	0.90568	D	0.682	0.71942	-1.0678	0.09903	T	0.086	0.33410	T	10	0.72552407	0.73947	D	0.031347	0.53452	D	0.251	0.56024	.	.	0.534955811369	0.53146	0.45851803618548626	0.45769	0.743094374649	0.63370	0.399929404259	0.25058	T	0.251113	0.62131	T	-0.0994137	0.36522	T	-0.116149	0.62116	T	0.434851921669073	0.30240	T	0.926807	0.73035	D	0.2637408	0.49439	0.32675046	0.58579	0.2637408	0.49439	0.32675046	0.58578	-8.189	0.62875	D	.	.	0.203	0.42820	B	.;.	.;.	4.802118	0.78040	26.8	0.99909171674426456	0.97875	0.81682	0.41037	D	AEFBI	0.472167	0.51740	N	0.401262897505603	0.61494	4.351066	0.289818626271806	0.54944	3.658088	0.999557190147903	0.40362	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	4.49	4.49	0.54177	1.526000	0.35570	8.523000	0.77429	0.676000	0.76740	0.990000	0.36992	1.000000	0.68203	0.326000	0.25110	0.0:0.0:0.7959:0.2041	9.863	0.40298	327	0.86637	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1855.43	115	chr1	154946734	.	G	A	1855.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.35;DP=455;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=16.13;ReadPosRankSum=0.936;SOR=0.655	GT:AD:DP:GQ:PL	0/1:49,66:115:99:1867,0,1200	9	0	1	0
chr1	155672661	155672661	A	C	exonic	YY1AP1	.	nonsynonymous SNV	YY1AP1:NM_001198899:exon4:c.T449G:p.L150R,YY1AP1:NM_001198900:exon6:c.T449G:p.L150R,YY1AP1:NM_001198901:exon6:c.T482G:p.L161R,YY1AP1:NM_001198902:exon6:c.T482G:p.L161R,YY1AP1:NM_001198903:exon6:c.T896G:p.L299R,YY1AP1:NM_001198904:exon6:c.T896G:p.L299R,YY1AP1:NM_001198905:exon7:c.T482G:p.L161R,YY1AP1:NM_001198906:exon7:c.T680G:p.L227R,YY1AP1:NM_139118:exon7:c.T680G:p.L227R,YY1AP1:NM_139119:exon7:c.T482G:p.L161R,YY1AP1:NM_139121:exon7:c.T284G:p.L95R,YY1AP1:NM_018253:exon8:c.T449G:p.L150R	Grange syndrome, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.254	0.00949780109909	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.004	0.74150	D	0.951	0.62824	P	0.635	0.63994	P	0.013182	0.28922	N	0.328703	1	0.81001	D	2.35	0.67516	M	1.73	0.26445	T	-3.11	0.68880	D	0.731	0.79118	-1.0848	0.06444	T	0.062	0.25780	T	10	0.5763751	0.65603	D	0.009498	0.24878	T	0.254	0.56428	0.63	0.76588	0.311387274539	0.30754	0.5337163673123786	0.53296	4.21975213468	0.99912	.	.	.	0.071838	0.42882	T	0.0972592	0.63996	D	-0.0980703	0.63546	T	0.960421681404114	0.65801	D	0.934407	0.79983	D	0.35027304	0.57089	0.34613362	0.60286	0.35027304	0.57089	0.34613362	0.60285	-13.707	0.92065	D	.	.	0.389	0.64970	A	.;.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.;.	3.902791	0.56863	23.8	0.99604413473544207	0.74397	0.77920	0.38370	D	AEFGBI	0.406889	0.47920	N	0.32243740077672	0.57301	3.897023	0.252574331488877	0.52794	3.452032	0.403597934810199	0.20151	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.711	0.71501	0	.	.	3.4	2.28	0.27583	1.425000	0.34467	3.345000	0.37739	0.641000	0.52212	0.876000	0.30908	0.996000	0.32793	0.991000	0.66497	0.7871:0.0:0.2129:0.0	5.720	0.17252	77	0.96778	.;.;.;.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1747.43	136	chr1	155672661	.	A	C	1747.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.532;DP=453;ExcessHet=0;FS=3.073;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=51.33;MQRankSum=0.212;QD=12.85;ReadPosRankSum=0.2;SOR=0.791	GT:AD:DP:GQ:PL	0/1:68,68:136:99:1759,0,1902	9	0	1	0
chr1	159205894	159205894	C	T	exonic	ACKR1	.	nonsynonymous SNV	ACKR1:NM_001122951:exon2:c.C461T:p.S154F,ACKR1:NM_002036:exon2:c.C455T:p.S152F	.	425	1081	15	0	1	16	0.00689022	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.127	.	0.0006	0.00259585	0.0021	0.0002	0.0003	0.0001	0.0002	0.0006	0.0011	0.0122	0.0018499	286	154602	rs147620003	0.0012	0.0012	0.0008	0.0015	0.0129	0.0011	0.0011	0.0123	0.0120	5.974e-05	0.0004	0.0002	2.519e-05	1.876e-05	0.0036	0.0004	0.0016	0.0129	0.0007	0.0007	0.0007	0.0008	0.0108	0.0006	0.0006	0.0084	0.0076	0.0001	0	0.0003	0	0	9.413e-05	0.0068	0.0006	0.0009	0.0108	0.086	0.33753	T	0.196	0.27943	T	0.887	0.48784	P	0.595	0.50587	P	0.306457	0.14508	N	0.506511	0.988358	0.24419	N	0.345	0.11182	N	1.34	0.34841	T	-0.81	0.22294	N	0.189	0.20660	-1.0754	0.08266	T	0.023	0.09696	T	10	0.008168638	0.00185	T	.	.	.	0.127	0.34888	.	.	0.349204839081	0.34528	0.39414579003088923	0.39329	0.0841297862296	0.09485	0.289785712957	0.08891	T	0.135551	0.46743	T	-0.497793	0.00588	T	-0.477434	0.24720	T	0.0270945296656597	0.01557	T	0.956904	0.83579	D	0.074649796	0.16766	0.08336655	0.19101	0.049851336	0.08915	0.09092037	0.21347	-0.764	0.00772	T	0.2587923289367664	0.34963	0.125	0.26263	B	.;.;.;.	.;.;.;.	3.444626	0.47939	22.5	0.99267088559129502	0.57423	0.28566	0.23589	N	AEFDBCI	0.047740	0.08073	N	-0.218723826749293	0.32365	1.824523	-0.143904829437812	0.33644	1.926659	0.992795635449124	0.32971	0.600919	0.35232	0	0.596877	0.49441	0	0.602189	0.34648	0	0.542086	0.14980	0	.	.	5.23	2.07	0.26004	0.969000	0.28967	2.470000	0.32893	-0.184000	0.09925	0.916000	0.31843	0.999000	0.35428	0.413000	0.27073	0.0:0.1704:0.5089:0.3206	7.494	0.26648	824	0.40336	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.000000	0.000000	0.000000	0.000000	0.006098	0.000000	0.1	3146.14	104	chr1	159205894	.	C	T	3146.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=1.93;DP=507;ExcessHet=0.2348;FS=7.778;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=18.08;ReadPosRankSum=1.74;SOR=1.209	GT:AD:DP:GQ:PL	0/1:55,49:104:99:1435,0,1681	8	0	2	0
chr1	160030794	160030794	A	C	exonic	PIGM	.	nonsynonymous SNV	PIGM:NM_145167:exon1:c.T946G:p.C316G	Glycosylphosphatidylinositol deficiency, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.315	0.129098063147	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1294304086	2.052e-06	2.052e-06	2.722e-06	1.375e-06	0.0002	5.5e-07	1.5e-07	3e-07	1.1e-07	0	0	0	0	0	0.0002	1.799e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.021	0.58089	D	0.993	0.65571	D	0.96	0.70309	D	0.000006	0.62929	D	0.111289	1	0.81001	D	3.275	0.90144	M	0.85	0.47130	T	-9.57	0.98503	D	0.69	0.69562	-0.6455	0.62909	T	0.222	0.58523	T	9	0.854362	0.84626	D	0.129098	0.81111	D	0.315	0.63694	0.631	0.76699	0.72636849053	0.72394	0.5631388709949597	0.56240	1.13854889537	0.78850	0.513442397118	0.40704	T	0.160194	0.50394	T	0.152325	0.69484	D	-0.0189724	0.69096	D	0.999645709991455	0.98300	D	0.872913	0.58047	D	0.9617691	0.97458	0.91357887	0.95943	0.9617691	0.97458	0.91357887	0.95943	-7.754	0.59382	D	0.3969254396452313	0.48933	0.294	0.52483	B	.	.	4.794476	0.77846	26.8	0.98289391390874425	0.39935	0.86077	0.45292	D	AEFDGBCI	0.799680	0.72587	D	0.59223024528763	0.72687	5.845406	0.556832234500006	0.71874	5.721801	0.999999999891159	0.74766	0.660085	0.49399	0	0.672317	0.65289	0	0.685571	0.62057	0	0.651492	0.60203	0	.	.	5.35	5.35	0.76297	4.771000	0.62011	10.956000	0.84431	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.963000	0.52385	1.0:0.0:0.0:0.0	13.278	0.59631	803	0.44167	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.1	3919.14	148	chr1	160030794	.	A	C	3919.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=3.61;DP=587;ExcessHet=0.2348;FS=0;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=13.75;ReadPosRankSum=0.582;SOR=0.719	GT:AD:DP:GQ:PL	0/1:74,74:148:99:2187,0,2284	8	0	2	0
chr1	161548502	161548502	T	C	exonic	FCGR3A	.	nonsynonymous SNV	FCGR3A:NM_000569:exon3:c.A238G:p.T80A,FCGR3A:NM_001127592:exon3:c.A550G:p.T184A,FCGR3A:NM_001329122:exon3:c.A553G:p.T185A,FCGR3A:NM_001127593:exon4:c.A238G:p.T80A,FCGR3A:NM_001127595:exon4:c.A238G:p.T80A,FCGR3A:NM_001127596:exon4:c.A235G:p.T79A,FCGR3A:NM_001329120:exon4:c.A238G:p.T80A	Immunodeficiency 20, Autosomal recessive	409	1112	1	0	0	1	0.000449438	.	.	.	2343126	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.083	0.00313033314678	0.0002	0.000199681	0.0001	0	8.637e-05	0	0	0.0001	0	0.0002	0.0001035	16	154602	rs142322800	8.278e-05	8.551e-05	5.718e-05	0.0001	0.0004	7.07e-05	6.619e-05	0.0003	0.0003	0	0.0002	0.0010	0	0	0.0003	3.238e-05	0.0002	0.0004	5.906e-05	5.904e-05	6.422e-05	5.367e-05	0.0001	3.074e-05	2.208e-05	2.257e-05	1.124e-05	0	0	0.0001	0.0009	0	0	0	5.879e-05	0	0	0.173	0.22573	T	0.449	0.12993	T	0.0	0.02946	B	0.001	0.04355	B	0.886414	0.07268	N	1.069840	1	0.08975	N	1.29	0.32370	L	2.48	0.14657	T	-1.24	0.33401	N	0.144	0.14480	-0.9309	0.44006	T	0.012	0.04416	T	10	0.021620095	0.00521	T	0.00313	0.06815	T	0.083	0.24192	.	.	0.28058544554	0.27657	0.2891013719723589	0.28823	0.12711569095	0.14323	0.23382383585	0.02263	T	0.051149	0.28797	T	-0.405493	0.02130	T	-0.524047	0.19885	T	0.0779164806008339	0.09718	T	0.424958	0.11391	T	0.26757896	0.49830	0.122851	0.29629	0.26757896	0.49829	0.122851	0.29629	-5.236	0.39305	T	.	.	0.095	0.14797	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	0.402749	0.07739	4.421	0.63158849319461019	0.07150	0.01698	0.05402	N	AEFI	0.147893	0.27166	N	-1.09580978508626	0.06720	0.3101596	-1.16392437642027	0.06521	0.3141671	0.967432366572922	0.28977	0.446893	0.09132	0	0.547309	0.14657	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	4.43	0.66	0.17038	0.226000	0.17557	-0.099000	0.11964	-0.190000	0.09434	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.1965:0.1819:0.6215	3.942	0.08828	884	0.28482	Immunoglobulin-like domain|Immunoglobulin-like domain|Immunoglobulin subtype;Immunoglobulin-like domain|Immunoglobulin-like domain|Immunoglobulin subtype;Immunoglobulin-like domain|Immunoglobulin-like domain|Immunoglobulin subtype;Immunoglobulin-like domain|Immunoglobulin-like domain|Immunoglobulin subtype;Immunoglobulin-like domain|Immunoglobulin-like domain|Immunoglobulin subtype;Immunoglobulin-like domain|Immunoglobulin-like domain|Immunoglobulin subtype;Immunoglobulin-like domain|Immunoglobulin-like domain|Immunoglobulin subtype	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	0.000586	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.004098	0.05	2980.43	365	chr1	161548502	.	T	C	2980.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.123;DP=2373;ExcessHet=0;FS=2.325;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=51.99;MQRankSum=2.62;QD=8.17;ReadPosRankSum=0.934;SOR=0.828	GT:AD:DP:GQ:PL	0/1:235,130:365:99:2992,0,6240	9	0	1	0
chr1	172442543	172442543	T	C	exonic	PIGC	.	nonsynonymous SNV	PIGC:NM_002642:exon2:c.A80G:p.N27S,PIGC:NM_153747:exon2:c.A80G:p.N27S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.633	0.0941146133909	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	0.045801	1	0.81001	D	3.015	0.86134	M	-0.07	0.63738	T	-4.94	0.81835	D	0.821	0.81658	-0.1107	0.79851	T	0.401	0.75230	T	10	0.9731989	0.96989	D	0.094115	0.76195	D	0.633	0.85924	0.887	0.97178	0.872658441737	0.87141	0.8285093215994572	0.82808	0.51915224536	0.49745	0.509147822857	0.40103	T	0.362303	0.72823	T	0.0594623	0.59545	T	-0.152363	0.59034	T	0.998681604862213	0.94856	D	0.925407	0.72589	D	0.9345867	0.94698	0.88781106	0.94112	0.9345867	0.94699	0.88781106	0.94112	-7.705	0.59042	D	0.7359316938246625	0.81782	0.212	0.44055	B	.;.	.;.	4.412284	0.68264	25.2	0.99879764793441905	0.95572	0.97513	0.75238	D	ALL	0.889738	0.82412	D	0.836271206962182	0.88312	9.531684	0.785841234848579	0.88793	9.71711	1.0	0.98316	0.722319	0.85440	0	0.662677	0.63036	0	0.709663	0.75317	0	0.735409	0.98432	0	.	.	5.35	5.35	0.76297	7.500000	0.80424	7.916000	0.74276	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:0.0:1.0	14.177	0.65087	654	0.62520	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1	4875.12	151	chr1	172442543	.	T	C	4875.12	.	AC=2;AF=0.1;AN=20;DP=745;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.1;MQ=60;QD=32.29;SOR=0.909	GT:AD:DP:GQ:PL	1/1:0,151:151:99:4898,453,0	9	1	0	0
chr1	176864350	176864350	C	G	exonic	ASTN1	.	nonsynonymous SNV	ASTN1:NM_001364856:exon23:c.G3843C:p.R1281S,ASTN1:NM_004319:exon23:c.G3819C:p.R1273S	.	431	1077	13	1	0	15	0.00691563	.	.	.	3547154	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.074	0.0140954752815	0.0003	0.000798722	0.0007	0.0002	0.0002	0	0	0.0006	0.0011	0.0023	0.0006533	101	154602	rs61758730	0.0006	0.0006	0.0005	0.0007	0.0023	0.0006	0.0006	0.0019	0.0018	0.0001	0.0002	0.0009	0	1.872e-05	0.0023	0.0006	0.0008	0.0022	0.0005	0.0005	0.0004	0.0005	0.0031	0.0004	0.0003	0.0019	0.0016	7.223e-05	0	0.0003	0.0009	0	0	0	0.0006	0.0005	0.0031	0.003	0.68238	D	0.012	0.63918	D	0.03	0.20002	B	0.015	0.17295	B	0.000044	0.53742	D	0.148909	0.998951	0.81001	D	.	.	.	2.78	0.11298	T	-1.47	0.35991	N	0.321	0.36148	-1.0556	0.12882	T	0.020	0.08407	T	10	0.010280341	0.00229	T	0.014095	0.33987	T	0.074	0.21613	0.283	0.23961	0.082315109003	0.07666	0.43392189449332963	0.43309	0.277079499431	0.30180	0.359603047371	0.19328	T	.	.	.	-0.465974	0.00901	T	-0.449379	0.27766	T	0.0271209418806168	0.01562	T	0.867413	0.56831	D	.	.	.	.	.	.	.	.	-3.337	0.14219	T	.	.	0.512	0.65132	A	.	.	3.282262	0.44973	22.0	0.99459415084374192	0.65736	0.72831	0.35636	D	AEFBI	0.229428	0.35295	N	-0.161038857680242	0.34767	1.988461	-0.000824670207248059	0.39680	2.356315	0.153100434590121	0.17473	0.615465	0.37627	0	0.59043	0.45803	0	0.658983	0.55881	0	0.564101	0.26826	0	.	.	4.61	3.62	0.40616	1.375000	0.33900	2.687000	0.34060	0.597000	0.34315	1.000000	0.71638	1.000000	0.68203	0.978000	0.57271	0.1603:0.6844:0.1553:0.0	9.400	0.37589	573	0.70213	.	.	.	.	.	.	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	0	0	1	0	0.002014	0.000000	0.001359	0.000000	0.000000	0.000000	0.003049	0.007576	0.1	4225.12	134	chr1	176864350	.	C	G	4225.12	.	AC=2;AF=0.1;AN=20;DP=442;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.1;MQ=60;QD=31.53;SOR=1.153	GT:AD:DP:GQ:PL	1/1:0,134:134:99:4248,402,0	9	1	0	0
chr1	180092925	180092925	G	C	exonic	CEP350	.	nonsynonymous SNV	CEP350:NM_014810:exon34:c.G6820C:p.A2274P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.035	0.0191116207909	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.991e-07	6.841e-07	1.385e-06	0	9.137e-07	0	0	.	.	0	0	0	0	0	0	9.137e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.035	0.43708	D	0.297	0.20551	T	0.052	0.22494	B	0.015	0.17295	B	0.772679	0.09535	N	0.872298	1	0.08975	N	2.015	0.55033	M	0.39	0.57419	T	-0.89	0.24026	N	0.196	0.21580	-0.9999	0.29945	T	0.052	0.22153	T	9	0.06610116	0.09017	T	0.019112	0.41382	T	0.046	0.12618	0.21	0.12781	0.255117706274	0.25116	0.19644298035702398	0.19561	0.118513868032	0.13345	0.2208866328	0.01362	T	0.005192	0.04636	T	-0.13214	0.31151	T	-0.427587	0.30210	T	0.0403433108980627	0.03752	T	0.60154	0.22486	T	0.14435409	0.33137	0.11829464	0.28555	0.14435409	0.33137	0.11829464	0.28555	-3.579	0.17553	T	.	.	0.122	0.25298	B	.	.	0.554362	0.09227	6.012	0.20304094510770798	0.00724	0.11061	0.16381	N	AEFBI	0.150967	0.27535	N	-0.960744940966723	0.09453	0.4474358	-1.0658977450774	0.08378	0.4117239	0.662207768868743	0.22283	0.732398	0.92422	0	0.743671	0.97443	0	0.670488	0.60580	0	0.463824	0.07026	1	.	.	5.73	-1.26	0.08892	0.153000	0.16140	0.015000	0.13501	-0.726000	0.03757	0.003000	0.16062	0.000000	0.08366	0.025000	0.12405	0.5458:0.0:0.3013:0.1529	5.533	0.16283	359	0.84979	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	1838.43	113	chr1	180092925	.	G	C	1838.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.304;DP=439;ExcessHet=0;FS=4.684;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=16.27;ReadPosRankSum=1.53;SOR=1.162	GT:AD:DP:GQ:PL	0/1:48,65:113:99:1850,0,1289	9	0	1	0
chr1	182527697	182527697	G	C	exonic	RGSL1	.	nonsynonymous SNV	RGSL1:NM_001137669:exon11:c.G2050C:p.E684Q,RGSL1:NM_001366934:exon12:c.G2155C:p.E719Q	.	.	.	.	.	.	.	.	.	.	.	3902625	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	.	0.0578784616982	.	0.000199681	0.0002	0	0	0	0	0.0001	0	0.0005	4.53e-05	7	154602	rs537460613	6.433e-05	6.156e-05	5.218e-05	7.681e-05	0.0004	5.323e-05	4.927e-05	0.0003	0.0002	3.168e-05	0.0002	0	0	2.028e-05	0.0004	3.894e-05	0.0001	0.0004	3.283e-05	3.281e-05	3.854e-05	2.686e-05	5.881e-05	1.26e-05	7.97e-06	1.972e-05	1.125e-05	0	0	0	0	0	0	0.0034	5.881e-05	0	0	0.041	0.41915	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	.	.	.	.	0.836105	0.28694	N	2.545	0.74286	M	4.6	0.01868	T	-1.4	0.34596	N	0.185	0.20129	.	.	.	.	.	.	.	0.124102056	0.23567	T	0.057878	0.67120	D	.	.	.	.	0.132336055621	0.12781	0.3523760115960924	0.35151	.	.	0.512946009636	0.40635	T	0.032036	0.22308	T	-0.367366	0.03730	T	-0.447399	0.27985	T	.	.	.	0.774523	0.40643	T	0.14054494	0.32422	0.14221832	0.33842	0.14054494	0.32422	0.14221832	0.33841	-6.269	0.48477	T	.	.	0.184	0.39915	B	.	.	3.015224	0.40338	21.1	0.99732525076318956	0.82904	0.75964	0.37223	D	AEFBHCI	0.198018	0.32490	N	.	.	.	.	.	.	0.208645547457632	0.18212	0.525926	0.21836	0	0.59043	0.45803	0	0.573888	0.23631	0	0.584449	0.35598	0	.	.	4.66	4.66	0.57857	3.174000	0.50548	7.313000	0.58133	0.676000	0.76740	0.997000	0.40164	1.000000	0.68203	0.029000	0.12982	0.0:0.0:1.0:0.0	13.220	0.59307	819	0.41190	RGS domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1184.43	96	chr1	182527697	.	G	C	1184.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.642;DP=421;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.34;ReadPosRankSum=0.891;SOR=0.765	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:47,49:96:99:0|1:182527694_A_G:1196,0,1186:182527694	9	0	1	0
chr1	183560204	183560204	G	A	exonic	NCF2	.	nonsynonymous SNV	NCF2:NM_001190789:exon12:c.C1117T:p.P373S,NCF2:NM_001190794:exon13:c.C1225T:p.P409S,NCF2:NM_000433:exon14:c.C1360T:p.P454S,NCF2:NM_001127651:exon15:c.C1360T:p.P454S	Chronic granulomatous disease due to deficiency of NCF-2, Autosomal recessive	0	1503	19	0	0	19	0.00628099	.	.	.	277863	NCF2-related_disorder|Granulomatous_disease,_chronic,_autosomal_recessive,_cytochrome_b-positive,_type_2|not_provided|not_specified	.|MONDO:MONDO:0009310,MedGen:C1856245,OMIM:233710,Orphanet:379|MedGen:C3661900|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.062	0.0159593375027	0.0055	0.00279553	0.0041	0.0008	0.0025	0.0002	0.0015	0.0064	0.0033	0.0014	0.0041849	647	154602	rs55761650	0.0063	0.0063	0.0064	0.0062	0.0072	0.0062	0.0061	0.0071	0.0070	0.0013	0.0038	0.0134	0	0.0007	0.0043	0.0072	0.0050	0.0027	0.0047	0.0047	0.0053	0.0041	0.0080	0.0044	0.0043	0.0069	0.0065	0.0015	0	0.0080	0.0110	0	0.0008	0.0034	0.0069	0.0062	0.0008	0.074	0.34621	T	0.086	0.44106	T	0.0	0.02946	B	0.002	0.06944	B	0.206604	0.16467	N	0.613191	1	0.08975	N	1.63	0.41750	L	-0.26	0.72889	T	-3.11	0.66085	D	0.071	0.04426	-0.9551	0.40078	T	0.147	0.47273	T	10	0.004563093	0.00095	T	0.015959	0.36975	T	0.062	0.17934	.	.	0.577929125939	0.57463	0.29821815483396497	0.29734	0.314777063784	0.33761	0.227331131697	0.01776	T	0.217469	0.57992	T	-0.564468	0.00239	T	-0.576347	0.14873	T	0.00492563233238766	0.00053	T	0.60024	0.22396	T	0.044414025	0.07097	0.0753414	0.16576	0.038439013	0.05121	0.070945755	0.15133	-3.315	0.14206	T	.	.	0.088	0.11606	B	.;.;.;.	.;.;.;.	0.527912	0.08965	5.748	0.3903328044334749	0.02669	0.07324	0.13345	N	AEFDBI	0.080614	0.16302	N	-1.17525485910975	0.05376	0.2449235	-1.19744153529468	0.05952	0.2851081	0.0723612784615346	0.15599	0.67177	0.52595	0	0.702456	0.74545	0	0.514364	0.09456	0	0.613276	0.41899	0	.	.	5.18	1.17	0.19998	-0.031000	0.12237	0.152000	0.15303	-1.703000	0.00755	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0723:0.3818:0.4147:0.1312	5.875	0.18074	730	0.54327	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.002014	0.005051	0.005435	0.000000	0.000000	0.000000	0.003049	0.000000	0.05	1345.43	90	chr1	183560204	.	G	A	1345.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.09;DP=398;ExcessHet=0;FS=0.798;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.95;ReadPosRankSum=2.36;SOR=0.839	GT:AD:DP:GQ:PL	0/1:40,50:90:99:1357,0,999	9	0	1	0
chr1	184890177	184890177	C	T	exonic	NIBAN1	.	nonsynonymous SNV	NIBAN1:NM_052966:exon4:c.G364A:p.G122S	.	.	.	.	.	.	.	.	.	.	.	4028025	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.242	0.0111832653004	.	0.000199681	1.649e-05	0	0	0	0	2.999e-05	0	0	3.84e-05	1	26028	rs140860927	9.578e-06	9.577e-06	6.807e-06	1.238e-05	2.52e-05	5.56e-06	4.35e-06	5.76e-06	4.55e-06	0	0	0	2.52e-05	0	0	1.079e-05	1.656e-05	0	6.57e-06	6.563e-06	0	1.344e-05	1.471e-05	0	0	.	.	0	0	0	0	0	0	0	1.471e-05	0	0	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	N	0.051573	0.996815	0.43435	D	2.195	0.61839	M	2.18	0.18875	T	-5.11	0.83092	D	0.503	0.53532	-0.9826	0.34398	T	0.128	0.43503	T	10	0.45949322	0.59197	T	0.011183	0.28538	T	0.242	0.54781	.	.	0.517322629239	0.51374	0.6754559100639078	0.67483	0.277069587991	0.30180	0.414116442204	0.27026	T	0.546087	0.84545	D	-0.0932565	0.37539	T	-0.356247	0.38488	T	0.993838727474213	0.84805	D	0.791221	0.43226	T	0.7994946	0.83873	0.60982585	0.77306	0.7994946	0.83875	0.60982585	0.77307	-9.071	0.68152	D	.	.	0.150	0.33249	B	.	.	3.456876	0.48158	22.6	0.99672432626277019	0.78652	0.43020	0.27006	N	AEFDBHCI	0.101007	0.20297	N	0.12730944179081	0.47738	2.995484	-0.0030918943948027	0.39576	2.348643	0.999999851621039	0.74766	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.564101	0.26826	0	.	.	5.71	3.85	0.43556	1.882000	0.39283	2.249000	0.31673	-0.182000	0.10109	0.754000	0.29177	0.831000	0.27213	0.067000	0.16453	0.0:0.8287:0.0:0.1713	8.869	0.34461	713	0.56348	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1269.43	122	chr1	184890177	.	C	T	1269.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.918;DP=435;ExcessHet=0;FS=2.42;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.41;ReadPosRankSum=-0.567;SOR=0.458	GT:AD:DP:GQ:PL	0/1:70,52:122:99:1281,0,1666	9	0	1	0
chr1	201829244	201829244	G	A	exonic	IPO9	.	nonsynonymous SNV	IPO9:NM_018085:exon1:c.G35A:p.G12E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.300	0.4362444181	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1459978213	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	0.49613	D	0.126	0.35205	T	0.008	0.14655	B	0.02	0.19048	B	0.012469	0.29163	N	0.353127	0.996821	0.43441	D	0	0.06538	N	.	.	.	-0.01	0.07155	N	0.116	0.10483	-1.0651	0.10526	T	0.076	0.30645	T	9	0.17223135	0.31986	T	0.436244	0.94077	D	0.300	0.62068	0.155	0.05858	0.615140795339	0.61203	0.4987436685259124	0.49795	0.80591612175	0.66462	0.938572764397	0.99400	D	0.177125	0.52731	T	0.0200806	0.54392	T	-0.208932	0.53798	T	0.36707545231068	0.27684	T	0.770923	0.40135	T	0.11429964	0.26985	0.2563447	0.51332	0.11429964	0.26985	0.2563447	0.51331	-6.419	0.49657	T	.	.	0.158	0.34992	B	.	.	3.697633	0.52717	23.3	0.98259582284208369	0.39649	0.50902	0.28770	D	AEFGBHCI	0.501235	0.53416	D	-0.343769202829205	0.27502	1.509398	-0.183624971867876	0.32138	1.825426	0.999999999999794	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	5.12	3.06	0.34374	0.886000	0.27878	9.338000	0.80191	0.674000	0.70861	1.000000	0.71638	1.000000	0.68203	0.940000	0.48062	0.0:0.1548:0.6853:0.1599	9.575	0.38615	291	0.88420	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	930.43	62	chr1	201829244	.	G	A	930.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.56;DP=373;ExcessHet=0;FS=3.541;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=15.01;ReadPosRankSum=-0.467;SOR=0.35	GT:AD:DP:GQ:PL	0/1:28,34:62:99:942,0,661	9	0	1	0
chr1	203712128	203712128	G	A	exonic	ATP2B4	.	nonsynonymous SNV	ATP2B4:NM_001001396:exon13:c.G2200A:p.E734K,ATP2B4:NM_001365783:exon13:c.G2200A:p.E734K,ATP2B4:NM_001365784:exon13:c.G2200A:p.E734K,ATP2B4:NM_001684:exon13:c.G2200A:p.E734K	.	392	1122	7	1	0	9	0.00399467	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.719	0.15961621119	.	.	1.662e-05	0	0	0	0	3.018e-05	0	0	1.29e-05	2	154602	rs767252454	1.505e-05	1.505e-05	1.498e-05	1.513e-05	0.0005	9.85e-06	8.42e-06	0.0001	7.578e-05	0	0	0	2.519e-05	0	0.0005	1.529e-05	1.656e-05	0	3.942e-05	3.94e-05	2.569e-05	5.379e-05	8.819e-05	1.715e-05	1.129e-05	3.761e-05	2.575e-05	0	0	0	0	0	0	0	8.819e-05	0	0	0.123	0.27544	T	0.172	0.30241	T	0.522	0.37544	P	0.23	0.38212	B	0.000068	0.52346	D	0.000000	1	0.81001	D	1.1	0.28011	L	-4.37	0.97343	D	-2.55	0.55181	D	0.677	0.68429	1.000	0.97188	D	0.889	0.96308	D	10	0.6508374	0.69593	D	0.159616	0.83978	D	0.719	0.90056	0.506	0.60078	0.728539117464	0.72613	0.6630601337283123	0.66243	1.09264733632	0.77486	0.723170399666	0.70508	T	.	.	.	0.299337	0.82915	D	0.255847	0.85896	D	0.846108078956604	0.49833	D	0.959604	0.84807	D	.	.	.	.	.	.	.	.	-8.212	0.62633	D	.	.	0.208	0.43435	B	.;.;.	.;.;.	4.960152	0.82006	27.7	0.99923866938744876	0.98917	0.99593	0.97790	D	AEFDBI	0.880162	0.80662	D	0.533246543680304	0.69067	5.304861	0.630452243532627	0.77161	6.626581	0.999999999999856	0.74766	0.719381	0.83141	0	0.593476	0.48661	0	0.724815	0.87919	0	0.733575	0.97253	0	.	.	5.51	5.51	0.81769	9.875000	0.98483	11.786000	0.96242	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.988000	0.63387	0.0:0.0:1.0:0.0	19.031	0.92939	598	0.68232	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1	756.14	61	chr1	203712128	.	G	A	756.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=1.1;DP=386;ExcessHet=0.2348;FS=4.004;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=7.13;ReadPosRankSum=0.939;SOR=0.359	GT:AD:DP:GQ:PL	0/1:38,23:61:99:480,0,1022	8	0	2	0
chr1	203772073	203772073	C	T	exonic	LAX1	.	nonsynonymous SNV	LAX1:NM_001136190:exon4:c.C268T:p.H90Y,LAX1:NM_001282878:exon4:c.C88T:p.H30Y,LAX1:NM_017773:exon4:c.C316T:p.H106Y	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.046	0.00275016132125	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.844e-07	6.841e-07	0	1.376e-06	.	0	0	.	.	0	0	0	0	0	0	0	1.657e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.055	0.40068	T	0.242	0.24334	T	0.965	0.56013	D	0.466	0.46637	P	0.782499	0.06663	N	1.109350	0.988882	0.24360	N	1.495	0.37439	L	.	.	.	-3.31	0.65972	D	0.325	0.36569	-1.0176	0.24495	T	0.108	0.39221	T	9	0.20462683	0.36661	T	0.00275	0.05694	T	0.046	0.12618	0.268	0.21576	0.605049500696	0.60188	0.024654007578971442	0.02416	0.196763213255	0.22047	0.333337843418	0.15438	T	0.610397	0.87644	D	-0.151841	0.28022	T	-0.455885	0.27049	T	0.606053292751312	0.36642	D	0.673433	0.28201	T	0.14101975	0.32512	0.20251477	0.44284	0.14101975	0.32512	0.20251477	0.44283	-3.943	0.22948	T	.	.	0.120	0.28664	B	.;.	.;.	2.070044	0.26324	17.08	0.99165217897944913	0.54212	0.25479	0.22711	N	AEFDGBIJ	0.074237	0.14873	N	0.0128197722892784	0.42438	2.556956	-0.0485570388563663	0.37552	2.20032	0.999938819406304	0.46732	0.615465	0.37627	0	0.633656	0.55848	0	0.573078	0.19857	0	0.542086	0.14980	0	.	.	5.16	3.25	0.36363	0.755000	0.26070	2.657000	0.33854	0.599000	0.40250	0.514000	0.27064	0.968000	0.29604	0.925000	0.46118	0.0:0.8181:0.0:0.1819	8.684	0.33389	472	0.77968	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1	1734.14	81	chr1	203772073	.	C	T	1734.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=1.01;DP=440;ExcessHet=0.2348;FS=1.244;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=10.77;ReadPosRankSum=1.64;SOR=0.56	GT:AD:DP:GQ:PL	0/1:48,33:81:99:751,0,1270	8	0	2	0
chr1	204444146	204444146	C	T	exonic	PIK3C2B	.	nonsynonymous SNV	PIK3C2B:NM_001377334:exon18:c.G2789A:p.C930Y,PIK3C2B:NM_002646:exon20:c.G2789A:p.C930Y,PIK3C2B:NM_001377335:exon21:c.G2705A:p.C902Y	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.336	0.0395205411741	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.846e-07	1.368e-06	1.362e-06	0	9.001e-07	0	0	.	.	0	0	0	0	0	0	9.001e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.005	0.63226	D	0.051	0.49390	T	0.999	0.77913	D	0.985	0.76457	D	0.000000	0.84330	D	0.000000	0.997849	0.44246	D	2.33	0.66821	M	0.01	0.62459	T	-4.37	0.77061	D	0.851	0.84817	-0.6521	0.62622	T	0.334	0.70101	T	10	0.7551726	0.75928	D	0.039521	0.58854	D	0.336	0.65816	0.312	0.28612	0.731197027204	0.72880	0.44362017305618334	0.44280	1.35405607476	0.84143	0.879551887512	0.93900	D	0.617515	0.87964	D	0.289904	0.82147	D	0.17865	0.81918	D	0.956505954265594	0.64774	D	0.920508	0.71260	D	0.453303	0.64250	0.49103993	0.70556	0.453303	0.64251	0.49103993	0.70557	-10.862	0.78895	D	.	.	0.601	0.79505	P	.;.	.;.	4.755519	0.76829	26.6	0.9976745670120315	0.85583	0.90357	0.51468	D	ALL	0.660412	0.63099	D	0.458512160282776	0.64688	4.728999	0.511871425671665	0.68789	5.26863	1.0	0.98316	0.706548	0.73137	0	0.724815	0.89359	0	0.608884	0.39905	0	0.674467	0.66132	0	.	.	5.98	5.98	0.97147	2.703000	0.46778	7.616000	0.62106	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.967000	0.53440	0.144:0.856:0.0:0.0	14.830	0.69772	648	0.63242	Phosphoinositide 3-kinase, accessory (PIK) domain|Phosphoinositide 3-kinase, accessory (PIK) domain|Phosphoinositide 3-kinase, accessory (PIK) domain;Phosphoinositide 3-kinase, accessory (PIK) domain|Phosphoinositide 3-kinase, accessory (PIK) domain|Phosphoinositide 3-kinase, accessory (PIK) domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.35	1775.95	150	chr1	204444146	.	C	T	1775.95	.	AC=7;AF=0.35;AN=20;BaseQRankSum=-4.45;DP=1261;ExcessHet=7.0302;FS=231.663;InbreedingCoeff=-0.5226;MLEAC=7;MLEAF=0.35;MQ=60;MQRankSum=0;QD=1.73;ReadPosRankSum=1.11;SOR=9.6	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:124,26:150:99:0|1:204444146_C_T:214,0,4042:204444146	3	0	7	0
chr1	204444147	204444147	A	G	exonic	PIK3C2B	.	nonsynonymous SNV	PIK3C2B:NM_001377334:exon18:c.T2788C:p.C930R,PIK3C2B:NM_002646:exon20:c.T2788C:p.C930R,PIK3C2B:NM_001377335:exon21:c.T2704C:p.C902R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.372	0.0699442069728	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	0.55530	D	0.034	0.53788	D	0.999	0.77913	D	0.985	0.76457	D	0.000000	0.84330	D	0.000000	1	0.81001	D	0.83	0.20963	L	0.14	0.60854	T	-5.22	0.83830	D	0.861	0.86191	-0.7225	0.59339	T	0.246	0.61530	T	10	0.6625425	0.70238	D	0.069944	0.70868	D	0.372	0.69102	0.335	0.32329	0.796189045978	0.79428	0.5671153260514122	0.56639	1.38482303822	0.84866	0.874912202358	0.93263	D	0.60522	0.87406	D	0.279203	0.81249	D	0.163279	0.81006	D	0.975287973880768	0.70867	D	0.739426	0.52772	T	0.74623775	0.80650	0.7226829	0.83623	0.74623775	0.80652	0.7226829	0.83624	-7.62	0.58450	D	.	.	0.819	0.87226	P	.;.	.;.	4.639661	0.73847	26.1	0.99796849897327999	0.88194	0.90532	0.51786	D	ALL	0.673803	0.63974	D	0.263763222116594	0.54323	3.598145	0.384514743775906	0.60611	4.250483	1.0	0.98316	0.706548	0.73137	0	0.724815	0.89359	0	0.608884	0.39905	0	0.674467	0.66132	0	.	.	5.98	5.98	0.97147	3.831000	0.55477	11.132000	0.86827	0.691000	0.84096	1.000000	0.71638	1.000000	0.68203	0.961000	0.51904	0.9272:0.0:0.0728:0.0	10.472	0.43830	648	0.63242	Phosphoinositide 3-kinase, accessory (PIK) domain|Phosphoinositide 3-kinase, accessory (PIK) domain|Phosphoinositide 3-kinase, accessory (PIK) domain;Phosphoinositide 3-kinase, accessory (PIK) domain|Phosphoinositide 3-kinase, accessory (PIK) domain|Phosphoinositide 3-kinase, accessory (PIK) domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2	438.75	150	chr1	204444147	.	A	G	438.75	.	AC=4;AF=0.2;AN=20;BaseQRankSum=-4.263;DP=1122;ExcessHet=1.5895;FS=176.128;InbreedingCoeff=-0.2371;MLEAC=4;MLEAF=0.2;MQ=60;MQRankSum=0;QD=0.79;ReadPosRankSum=1.71;SOR=9.327	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:124,26:150:99:0|1:204444146_C_T:214,0,4042:204444146	6	0	4	0
chr1	215888503	215888503	C	T	exonic	USH2A	.	nonsynonymous SNV	USH2A:NM_206933:exon41:c.G8146A:p.E2716K	Retinitis pigmentosa 39;Usher syndrome, type 2A, Autosomal recessive	1	1512	8	1	0	10	0.00329598	.	.	YES	761596	Retinal_dystrophy|Retinitis_pigmentosa_39|Usher_syndrome_type_2A|not_provided	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|MONDO:MONDO:0013436,MedGen:C3151138,OMIM:613809,Orphanet:791|MONDO:MONDO:0010169,MedGen:C1848634,OMIM:276901,Orphanet:231178,Orphanet:886|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.195	0.141138886541	.	0.00139776	0.0005	0	8.649e-05	0	0	1.5e-05	0.0022	0.0038	0.0004722	73	154602	rs531822235	0.0003	0.0003	0.0002	0.0004	0.0037	0.0003	0.0002	0.0034	0.0033	0	0.0002	0	0	0	0.0014	4.047e-05	0.0003	0.0037	0.0002	0.0002	8.992e-05	0.0003	0.0039	0.0001	0.0001	0.0026	0.0021	4.808e-05	0	0	0	0	0	0	8.82e-05	0	0.0039	0.304	0.14303	T	0.206	0.27056	T	0.376	0.34240	B	0.115	0.31843	B	0.069210	0.21620	N	0.322570	0.786119	0.29278	N	2.325	0.66631	M	0.6	0.53731	T	-1.27	0.31981	N	0.623	0.63798	-0.9184	0.45770	T	0.135	0.44933	T	10	0.014889747	0.00313	T	0.141139	0.82357	D	0.195	0.47612	0.477	0.55502	0.894154823557	0.89310	0.5023496414421986	0.50156	0.035373054022	0.03728	0.251143872738	0.03889	T	0.076511	0.35436	T	-0.349936	0.04732	T	-0.275443	0.47268	T	0.0208608285983902	0.00787	T	0.827217	0.49094	T	0.18217868	0.39424	0.14899513	0.35197	0.18217868	0.39423	0.14899513	0.35196	-7.735	0.59251	D	0.7016832740800685	0.78073	0.136	0.29642	B	.	.	2.011600	0.25557	16.81	0.99451342826249878	0.65274	0.65342	0.32705	D	AEFHCI	0.221576	0.34618	N	-0.43866498234783	0.24125	1.300512	-0.400865059868832	0.24971	1.370559	0.0247287025115608	0.13599	0.525926	0.21836	0	0.615948	0.52940	0	0.615948	0.41167	0	0.564101	0.26826	0	.	.	5.73	3.84	0.43422	1.634000	0.36736	1.438000	0.26503	0.599000	0.40250	0.876000	0.30908	0.622000	0.25821	0.771000	0.36558	0.0:0.7513:0.2487:0.0	16.415	0.83569	842	0.36989	Fibronectin type III|Fibronectin type III	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.05	1711.43	122	chr1	215888503	.	C	T	1711.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.52;DP=437;ExcessHet=0;FS=0.662;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.03;ReadPosRankSum=0.702;SOR=0.631	GT:AD:DP:GQ:PL	0/1:60,62:122:99:1723,0,1585	9	0	1	0
chr1	216175408	216175408	C	T	exonic	USH2A	.	nonsynonymous SNV	USH2A:NM_007123:exon21:c.G4471A:p.E1491K,USH2A:NM_206933:exon21:c.G4471A:p.E1491K	Retinitis pigmentosa 39;Usher syndrome, type 2A, Autosomal recessive	.	.	.	.	.	.	.	.	.	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	0.076	0.0121078061175	.	0.000199681	8.274e-06	9.615e-05	0	0	0	0	0	0	1.29e-05	2	154602	rs551567431	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	6.561e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.901	0.02581	T	0.574	0.14500	T	0.003	0.11197	B	0.002	0.10090	B	0.086342	0.20592	U	0.340831	1	0.08975	N	1.845	0.48678	L	0.56	0.54540	T	-0.41	0.14000	N	0.186	0.20262	-1.0221	0.23031	T	0.080	0.31645	T	10	0.054751307	0.05878	T	0.012108	0.30386	T	0.076	0.22200	0.487	0.57098	0.667260656149	0.66445	0.34086755809510566	0.33999	0.0322426943668	0.03362	0.329813361168	0.14906	T	0.04911	0.28211	T	-0.322764	0.06674	T	-0.519876	0.20307	T	0.112710291091831	0.13703	T	0.778122	0.41194	T	0.07584977	0.17116	0.06841437	0.14284	0.07584977	0.17115	0.06841437	0.14283	-4.963	0.36436	T	0.2667594388243823	0.35948	0.069	0.03231	B	.;.	.;.	2.216272	0.28277	17.74	0.70692782075080418	0.09379	0.82959	0.42120	D	AEFI	0.142821	0.26536	N	-0.613138760393923	0.18549	0.9638922	-0.47567112120608	0.22825	1.241732	4.17636823429962E-4	0.06899	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.56	3.62	0.40616	1.315000	0.33214	1.032000	0.23488	0.584000	0.30380	0.631000	0.28008	0.000000	0.08366	0.661000	0.32996	0.0:0.6871:0.1726:0.1403	7.763	0.28130	806	0.43582	Fibronectin type III;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	811.43	67	chr1	216175408	.	C	T	811.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.69;DP=377;ExcessHet=0;FS=0.928;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.11;ReadPosRankSum=-0.364;SOR=0.557	GT:AD:DP:GQ:PL	0/1:35,32:67:99:823,0,1021	9	0	1	0
chr1	216246848	216246848	C	T	exonic	USH2A	.	nonsynonymous SNV	USH2A:NM_007123:exon13:c.G2546A:p.C849Y,USH2A:NM_206933:exon13:c.G2546A:p.C849Y	Retinitis pigmentosa 39;Usher syndrome, type 2A, Autosomal recessive	0	1520	2	0	0	2	0.000657462	.	.	.	57650	Retinal_dystrophy|not_specified|Retinitis_pigmentosa|not_provided|Usher_syndrome_type_2A	Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862|MedGen:CN169374|Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:791|MedGen:C3661900|MONDO:MONDO:0010169,MedGen:C1848634,OMIM:276901,Orphanet:231178,Orphanet:886	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.778	.	0.0048	0.00658946	0.0015	0.0153	0.0006	0	0	0.0002	0	0	0.0014489	224	154602	rs111033481	0.0005	0.0005	0.0005	0.0005	0.0151	0.0005	0.0005	0.0140	0.0136	0.0151	0.0010	0	0	0	0.0016	9.623e-05	0.0009	8.115e-05	0.0040	0.0040	0.0041	0.0038	0.0134	0.0037	0.0036	0.0125	0.0121	0.0134	0	0.0013	0	0	0	0.0034	0.0003	0.0024	0	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.97372	D	0.000254	0.46924	D	0.000000	1	0.81001	D	4.53	0.99067	H	-3.4	0.94260	D	-9.02	0.98823	D	0.991	0.99776	0.515	0.90761	D	0.828	0.94238	D	10	0.03531897	0.01776	T	.	.	.	0.778	0.92583	.	.	0.971563410866	0.97125	0.9768243542837681	0.97672	0.283801731736	0.30815	0.597277402878	0.52521	T	0.433187	0.78070	T	0.110458	0.65400	D	0.398863	0.92073	D	0.189226752807175	0.19799	T	0.873813	0.58729	D	0.82420206	0.85505	0.94667894	0.98195	0.9426516	0.95518	0.9535783	0.98612	-11.28	0.81172	D	0.8038965528170291	0.88012	0.844	0.79791	P	.;.	.;.	3.736913	0.53487	23.4	0.99778192794093934	0.86519	0.85007	0.44107	D	AEFDGBIJ	0.330797	0.43072	N	0.9870161906956	0.95332	13.520	0.888432805574321	0.95047	13.26569	0.763254120265975	0.23546	0.541725	0.22260	1	0.573888	0.26702	0	0.459889	0.06779	1	0.564101	0.26826	0	.	.	6.03	6.03	0.97798	2.653000	0.46355	4.022000	0.41260	0.599000	0.40250	1.000000	0.71638	0.999000	0.35428	0.996000	0.76049	0.0:1.0:0.0:0.0	20.557	0.99307	869	0.31655	Laminin EGF domain|Laminin EGF domain|Laminin EGF domain;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.006042	0.005051	0.013587	0.005848	0.000000	0.000000	0.000000	0.000000	0.05	2815.43	191	chr1	216246848	.	C	T	2815.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.05;DP=507;ExcessHet=0;FS=0.53;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.74;ReadPosRankSum=0.147;SOR=0.739	GT:AD:DP:GQ:PL	0/1:92,99:191:99:2827,0,2420	9	0	1	0
chr1	220154029	220154029	G	C	exonic	RAB3GAP2	.	nonsynonymous SNV	RAB3GAP2:NM_012414:exon32:c.C3584G:p.T1195S	Martsolf syndrome, Autosomal recessive;Warburg micro syndrome 2, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.141	0.00874835817134	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.849e-07	5.199e-05	1.363e-06	0	9.003e-07	0	0	.	.	0	0	0	0	0	0	9.003e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.191	0.21066	T	0.709	0.05544	T	0.918	0.50838	P	0.243	0.38752	B	0.000001	0.62929	D	0.097802	0.989506	0.40966	D	1.965	0.53209	M	1.55	0.29866	T	-1.19	0.30346	N	0.147	0.14905	-1.1200	0.02331	T	0.056	0.23715	T	10	0.2658563	0.44086	T	0.008748	0.23099	T	0.141	0.37795	0.358	0.36060	0.223474106383	0.21959	0.16981700195601018	0.16901	0.592570687533	0.54640	0.739543437958	0.72906	T	0.027942	0.20352	T	-0.137119	0.30348	T	-0.434738	0.29399	T	0.899769723415375	0.55214	D	0.762924	0.38892	T	0.1383725	0.32004	0.21677402	0.46317	0.1383725	0.32004	0.21677402	0.46316	-2.787	0.08064	T	0.07926114128440298	0.03886	0.096	0.15475	B	.	.	3.368266	0.46533	22.3	0.99285218365232031	0.58043	0.98279	0.81205	D	AEFBI	0.720452	0.67101	D	0.402651685043986	0.61569	4.359683	0.526830799331264	0.69803	5.412558	0.999690459879266	0.41870	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.727631	0.95156	0	.	.	5.73	5.73	0.89730	6.424000	0.73282	11.862000	0.98348	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	20.260	0.98443	533	0.73433	Rab3GAP regulatory subunit, C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.35	191.32	95	chr1	220154029	.	G	C	191.32	.	AC=7;AF=0.35;AN=20;BaseQRankSum=-2.127;DP=777;ExcessHet=7.0302;FS=236.426;InbreedingCoeff=-0.4786;MLEAC=6;MLEAF=0.3;MQ=60;MQRankSum=0;QD=0.41;ReadPosRankSum=-0.194;SOR=10.961	GT:AD:DP:GQ:PL	0/1:62,25:95:7:7,0,787	3	0	7	0
chr1	222544089	222544089	T	G	exonic	HHIPL2	.	nonsynonymous SNV	HHIPL2:NM_024746:exon2:c.A422C:p.H141P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.532	0.061786165327	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.206	0.19927	T	0.15	0.32461	T	0.107	0.26081	B	0.142	0.33681	B	0.000050	0.53742	D	0.166361	0.998644	0.45212	D	2.865	0.83145	M	-1.02	0.76300	T	-4.37	0.77061	D	0.779	0.77601	-0.3317	0.74084	T	0.438	0.77733	T	10	0.7939143	0.78899	D	0.061786	0.68443	D	0.532	0.80307	0.705	0.84145	0.448201132538	0.44443	0.8911395181234112	0.89083	0.349160972966	0.36775	0.441397666931	0.30768	T	0.019757	0.15682	T	0.182221	0.72247	D	0.0239715	0.71887	D	0.894823908805847	0.54627	D	0.778122	0.41194	T	0.63161206	0.74385	0.52858216	0.72762	0.63161206	0.74386	0.52858216	0.72763	-12.085	0.85262	D	.	.	0.329	0.55166	B	.	.	2.179412	0.27780	17.58	0.95487984108075274	0.27061	0.49736	0.28501	N	AEFDGBHCI	0.419766	0.48686	N	-0.326382255168046	0.28150	1.550256	-0.310254631235256	0.27766	1.543086	0.999999999977309	0.74766	0.525926	0.21836	0	0.563428	0.19063	0	0.615948	0.41167	0	0.584449	0.35598	0	.	.	5.59	4.43	0.52967	0.549000	0.23037	1.450000	0.26598	0.609000	0.47794	0.224000	0.24579	0.970000	0.29701	0.668000	0.33194	0.0:0.0:0.1415:0.8585	12.341	0.54417	894	0.26265	Folate receptor-like	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1874.43	158	chr1	222544089	.	T	G	1874.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.632;DP=481;ExcessHet=0;FS=6.964;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.86;ReadPosRankSum=-0.717;SOR=0.451	GT:AD:DP:GQ:PL	0/1:82,76:158:99:1886,0,2282	9	0	1	0
chr1	222561432	222561432	C	T	exonic	TAF1A	.	nonsynonymous SNV	TAF1A:NM_139352:exon9:c.G830A:p.S277N,TAF1A:NM_001201536:exon10:c.G1172A:p.S391N,TAF1A:NM_005681:exon10:c.G1172A:p.S391N	.	432	1087	3	0	0	3	0.00137804	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.066	.	0.0077	0.0061901	0.0020	0.0220	0.0010	0	0	4.499e-05	0	0	0.0018758	290	154602	rs145156580	0.0006	0.0006	0.0007	0.0005	0.0195	0.0005	0.0005	0.0183	0.0178	0.0195	0.0012	0	2.523e-05	0	0.0007	3.059e-05	0.0014	4.653e-05	0.0056	0.0056	0.0061	0.0051	0.0193	0.0053	0.0051	0.0182	0.0178	0.0193	0	0.0017	0	0	0	0	0.0001	0.0061	0	0.337	0.12837	T	0.256	0.23298	T	0.005	0.12996	B	0.004	0.10090	B	0.000042	0.53742	D	0.222672	0.999581	0.20930	N	1.09	0.27330	L	0.73	0.50721	T	-0.73	0.20576	N	0.232	0.26111	-1.0919	0.05223	T	0.041	0.17785	T	10	0.00363034	0.00066	T	.	.	.	0.066	0.19193	.	.	0.573582730237	0.57026	0.09795371241337296	0.09726	0.23912164919	0.26467	0.376865833998	0.21811	T	0.004733	0.04144	T	-0.638681	0.00085	T	-0.673941	0.07359	T	0.00565951547907298	0.00062	T	0.49705	0.16498	T	0.031153552	0.02903	0.051716324	0.08379	0.031153552	0.02903	0.051716324	0.08378	-3.64	0.19910	T	.	.	0.082	0.08802	B	.;.;.	.;.;.	1.369389	0.17795	13.37	0.97157039189319028	0.32612	0.07725	0.13727	N	AEFBI	0.035114	0.04466	N	-0.511273368775993	0.21715	1.154448	-0.412427815724692	0.24632	1.349955	0.00205054431297608	0.09112	0.706548	0.73137	0	0.653731	0.59785	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	5.97	1.4	0.21393	0.740000	0.25856	-0.395000	0.09449	0.599000	0.40250	0.475000	0.26761	0.000000	0.08366	0.991000	0.66497	0.0:0.4595:0.2919:0.2486	5.368	0.15425	922	0.19044	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001007	0.000000	0.004076	0.000000	0.000000	0.000000	0.000000	0.000000	0.05	1195.43	121	chr1	222561432	.	C	T	1195.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.24;DP=485;ExcessHet=0;FS=0.684;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.88;ReadPosRankSum=0.237;SOR=0.766	GT:AD:DP:GQ:PL	0/1:74,47:121:99:1207,0,1966	9	0	1	0
chr1	223759394	223759394	A	G	exonic	CAPN2	.	nonsynonymous SNV	CAPN2:NM_001146068:exon12:c.A1208G:p.E403G,CAPN2:NM_001748:exon12:c.A1442G:p.E481G	.	391	1130	1	0	0	1	0.000442282	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.893	0.116890488069	0.0002	.	5.774e-05	0.0005	0.0002	0	0	0	0	0	4.53e-05	7	154602	rs151234089	2.599e-05	2.599e-05	2.45e-05	2.75e-05	0.0010	1.932e-05	1.692e-05	0.0007	0.0006	0.0010	4.472e-05	0	0	0	0.0002	0	4.967e-05	0	0.0002	0.0002	0.0002	0.0002	0.0007	0.0001	0.0001	0.0005	0.0004	0.0007	0	6.546e-05	0	0	0	0	0	0.0010	0	0.027	0.48186	D	0.029	0.55759	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.93	0.96317	H	-2.4	0.88455	D	-6.16	0.90215	D	0.768	0.76573	0.806	0.94486	D	0.825	0.94136	D	10	0.8573623	0.84939	D	0.11689	0.79650	D	0.893	0.96947	.	.	0.943598155618	0.94301	0.814942607974481	0.81450	0.580046561263	0.53860	0.561731219292	0.47511	T	0.702183	0.91435	D	0.181161	0.72149	D	0.419973	0.92743	D	0.923369824886322	0.58397	D	0.964804	0.86967	D	0.6329929	0.74458	0.7099312	0.82891	0.6329929	0.74459	0.7099312	0.82892	-11.61	0.82899	D	.	.	0.710	0.73380	P	.;.	.;.	6.637918	0.95520	35	0.99922520512202762	0.98852	0.98845	0.87614	D	AEFDBHCI	0.962839	0.98456	D	0.767815152391845	0.84058	8.183275	0.731416794206949	0.84763	8.383802	0.999999999999942	0.74766	0.77792	0.99625	0	0.630245	0.54622	0	0.854111	0.99894	0	0.711	0.71501	0	.	.	5.91	5.91	0.95240	9.325000	0.96006	9.303000	0.79891	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.718000	0.34707	1.0:0.0:0.0:0.0	16.348	0.83004	.	.	.;Peptidase C2, calpain, large subunit, domain III|Peptidase C2, calpain, domain III|Calpain subdomain III	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1328.43	114	chr1	223759394	.	A	G	1328.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.019;DP=458;ExcessHet=0;FS=4.536;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.65;ReadPosRankSum=0.788;SOR=0.865	GT:AD:DP:GQ:PL	0/1:64,50:114:99:1340,0,1703	9	0	1	0
chr1	225007516	225007516	T	G	exonic	DNAH14	.	nonsynonymous SNV	DNAH14:NM_001145154:exon10:c.T1079G:p.I360S,DNAH14:NM_001349911:exon10:c.T1010G:p.I337S,DNAH14:NM_001367479:exon10:c.T1079G:p.I360S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.258	.	0.0035	0.00139776	0.0010	0.0103	0	0	0	0	0	0	0.0002264	35	154602	rs74149431	0.0003	0.0003	0.0003	0.0002	0.0103	0.0002	0.0002	0.0093	0.0090	0.0103	0.0005	0	0	0	0.0002	6.539e-06	0.0004	0	0.0027	0.0027	0.0029	0.0026	0.0095	0.0025	0.0024	0.0087	0.0084	0.0095	0	0.0010	0	0	0	0	2.941e-05	0.0024	0	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.984	0.78936	D	0.000065	0.52346	D	0.000000	0.958831	0.31511	N	.	.	.	1.96	0.36691	T	-3.05	0.78222	D	0.633	0.64648	-1.0418	0.16770	T	0.094	0.35604	T	10	0.008214265	0.00186	T	.	.	.	0.258	0.56959	.	.	0.397691132334	0.39381	0.2824065009418148	0.28153	0.389946800184	0.40218	0.561714708805	0.47510	T	0.008723	0.07985	T	-0.361816	0.04028	T	-0.285109	0.46279	T	0.0537910207848593	0.06154	T	0.542746	0.18485	T	0.7072088	0.78454	0.5863973	0.76012	0.7072088	0.78455	0.5863973	0.76013	-5.258	0.39526	T	.	.	0.552	0.66889	A	.;.;.;.;.	.;.;.;.;.	2.697827	0.35233	19.84	0.9906457001919684	0.51574	0.85576	0.44723	D	AEBI	0.334352	0.43314	N	0.253496608099958	0.53811	3.54861	0.255028317774695	0.52937	3.465229	0.00913046226655488	0.11800	0.553676	0.25195	0	0.573888	0.26702	0	0.573888	0.23631	0	0.620846	0.47308	0	.	.	5.65	5.65	0.86881	3.879000	0.55850	2.618000	0.33617	0.572000	0.28966	1.000000	0.71638	0.607000	0.25749	0.264000	0.23619	0.0:0.0:0.0:1.0	12.544	0.55535	745	0.52414	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1308.43	82	chr1	225007516	.	T	G	1308.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.687;DP=389;ExcessHet=0;FS=1.951;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=15.96;ReadPosRankSum=0.636;SOR=0.458	GT:AD:DP:GQ:PL	0/1:31,51:82:99:1320,0,826	9	0	1	0
chr1	225353859	225353859	A	G	exonic	DNAH14	.	nonsynonymous SNV	DNAH14:NM_001367479:exon73:c.A11590G:p.K3864E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.063	0.0614465465037	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.042e-05	0.0002	4.845e-05	3.228e-05	5.677e-05	3.153e-05	2.859e-05	3.702e-05	3.273e-05	0	0	0	5.677e-05	0	0	4.78e-05	3.63e-05	1.325e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	0.42199	D	0.255	0.23365	T	0.05	0.22331	B	0.099	0.30579	B	.	.	.	.	1	0.81001	D	.	.	.	3.08	0.08460	T	-1.64	0.39314	N	0.308	0.34874	-1.0192	0.23975	T	0.019	0.08033	T	8	0.124540865	0.23656	T	0.061447	0.68333	D	0.063	0.18251	0.572	0.69564	0.451599300725	0.44785	.	.	.	.	0.599538326263	0.52839	T	.	.	.	-0.239241	0.15447	T	-0.581429	0.14419	T	0.846662878990173	0.49880	D	0.464054	0.13535	T	.	.	.	.	.	.	.	.	-6.193	0.47866	T	.	.	.	.	.	.;.	.;.	2.585504	0.33527	19.37	0.98939638588293688	0.48921	0.85233	0.44348	D	AEFI	0.466657	0.51421	N	-0.052835977571936	0.39475	2.328543	0.0863524573255915	0.43860	2.679155	0.00441683280225518	0.10545	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	4.96	3.8	0.42887	3.749000	0.54867	5.638000	0.49139	0.709000	0.85303	1.000000	0.71638	1.000000	0.68203	0.988000	0.63387	0.9067:0.0:0.0933:0.0	8.962	0.35015	620	0.66037	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	208.43	75	chr1	225353859	.	A	G	208.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-3.664;DP=380;ExcessHet=0;FS=81.178;InbreedingCoeff=-0.0527;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=2.78;ReadPosRankSum=1.76;SOR=5.545	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:60,15:75:99:0|1:225353859_A_G:220,0,2040:225353859	9	0	1	0
chr1	225353862	225353862	C	G	exonic	DNAH14	.	nonsynonymous SNV	DNAH14:NM_001367479:exon73:c.C11593G:p.L3865V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.169	0.184522215149	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.495e-06	2.815e-05	1.481e-06	1.51e-06	1.943e-06	2.5e-07	9e-08	3.2e-07	1.2e-07	0	0	0	0	0	0	1.943e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.017	0.51248	D	0.007	0.69154	D	0.998	0.73220	D	0.987	0.77487	D	.	.	.	.	1	0.81001	D	.	.	.	3.07	0.08547	T	-2.09	0.47683	N	0.478	0.51315	-1.1684	0.00571	T	0.067	0.27674	T	8	0.42786682	0.57295	T	0.184522	0.85755	D	0.169	0.43123	0.464	0.53404	0.539206206136	0.53571	.	.	.	.	0.575304269791	0.49425	T	.	.	.	-0.225988	0.17183	T	-0.562392	0.16153	T	0.954804537863371	0.64353	D	0.537746	0.18100	T	.	.	.	.	.	.	.	.	-5.635	0.43111	T	.	.	.	.	.	.;.	.;.	3.753409	0.53817	23.4	0.99763407953241845	0.85254	0.92830	0.56650	D	AEFI	0.645686	0.62149	D	0.612402131367579	0.73959	6.051873	0.603151193080595	0.75167	6.263177	0.909202901970934	0.26305	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	4.575000	0.60619	4.515000	0.43664	0.563000	0.28513	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:1.0:0.0:0.0	15.452	0.75010	620	0.66037	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1429	268.98	76	chr1	225353862	.	C	G	268.98	.	AC=2;AF=0.143;AN=14;BaseQRankSum=-2.31;DP=353;ExcessHet=0.2348;FS=154.615;InbreedingCoeff=-0.2357;MLEAC=3;MLEAF=0.214;MQ=60;MQRankSum=0;QD=1.91;ReadPosRankSum=2.84;SOR=6.868	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:61,15:76:99:0|1:225353859_A_G:217,0,2047:225353859	5	0	2	3
chr1	225399269	225399269	A	T	exonic	DNAH14	.	stoploss	DNAH14:NM_001367479:exon86:c.A13854T:p.X4618Y	.	446	1055	19	2	0	23	0.0107829	.	.	.	2816106	not_provided|DNAH14-related_disorder	MedGen:C3661900|.	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	.	.	0.0088	0.00199681	0.0080	0.0010	0.0110	0	0.0043	0.0100	0.0169	0.0086	0.0021863	338	154602	rs41305733	0.0082	0.0079	0.0080	0.0083	0.0095	0.0080	0.0080	0.0090	0.0090	0.0014	0.0033	0.0024	5.601e-05	0.0049	0.0095	0.0092	0.0074	0.0068	0.0064	0.0064	0.0066	0.0062	0.0101	0.0060	0.0059	0.0094	0.0092	0.0015	0.0230	0.0055	0.0029	0	0.0062	0.0034	0.0101	0.0052	0.0066	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.999999	0.08975	N	.	.	.	.	.	.	.	.	.	0.159	0.16586	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.2275	0.16981	T	-0.0891767	0.64224	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.	.;.;.	0.245676	0.06257	2.709	0.77826113864670554	0.12038	0.85190	0.44301	D	AEFDBI	.	.	.	-0.120048347955809	0.36520	2.11208	-0.146601085914856	0.33539	1.919571	0.282508983074451	0.19002	0.106106	0.02776	0	0.105846	0.03286	0	0.083675	0.02720	0	0.09929	0.02979	0	0.224045	0.31500	4.38	3.25	0.36363	1.885000	0.39312	5.840000	0.50240	0.674000	0.70861	0.998000	0.41325	1.000000	0.68203	0.149000	0.20271	0.8996:0.0:0.1004:0.0	7.546	0.26936	634	0.64659	.;.;.	DNAH14	Cells_Cultured_fibroblasts	.	.	.	Likely benign	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	1	0	0.005063	0.000000	0.000000	0.013514	0.083333	0.000000	0.000000	0.013514	0.05	887.43	62	chr1	225399269	.	A	T	887.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.748;DP=380;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.31;ReadPosRankSum=0.58;SOR=0.667	GT:AD:DP:GQ:PL	0/1:28,34:62:99:899,0,838	9	0	1	0
chr1	225514708	225514708	G	A	exonic	ENAH	.	nonsynonymous SNV	ENAH:NM_001377483:exon6:c.C995T:p.A332V,ENAH:NM_001008493:exon7:c.C1106T:p.A369V,ENAH:NM_018212:exon7:c.C1106T:p.A369V,ENAH:NM_001377481:exon8:c.C1163T:p.A388V,ENAH:NM_001377482:exon8:c.C1163T:p.A388V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.233	0.112320486811	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	2.797e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	0.55530	D	0.048	0.50514	D	0.997	0.70673	D	0.97	0.72226	D	0.003271	0.35183	N	0.226742	0.999596	0.58761	D	2.275	0.64647	M	-0.04	0.63240	T	-1.67	0.39887	N	0.63	0.64393	0.348	0.88309	D	0.643	0.87528	D	10	0.4695522	0.59778	T	0.11232	0.79042	D	0.233	0.53499	0.104	0.01698	0.612357999405	0.60923	0.16674359625552354	0.16594	0.92458102789	0.71591	0.674778223038	0.63520	T	0.277514	0.65013	T	0.133822	0.67732	D	-0.0455502	0.67325	D	0.946237564086914	0.62427	D	0.848015	0.53747	T	0.17252353	0.37948	0.16418302	0.38047	0.17252353	0.37948	0.16418302	0.38046	-10.699	0.78566	D	.	.	0.227	0.48510	B	.;.;.	.;.;.	4.298915	0.65622	24.9	0.99888774019022097	0.96359	0.99573	0.97585	D	AEFDBI	0.882683	0.81099	D	0.729987147899231	0.81600	7.559994	0.719044094803892	0.83827	8.124527	0.999999999997317	0.74766	0.651	0.46895	0	0.59043	0.45803	0	0.693117	0.63056	0	0.683762	0.67416	0	.	.	5.21	5.21	0.72005	8.455000	0.90207	11.320000	0.92525	0.614000	0.49286	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:0.0:1.0:0.0	18.735	0.91713	679	0.60090	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3333	354.95	117	chr1	225514708	.	G	A	354.95	.	AC=4;AF=0.333;AN=12;BaseQRankSum=-2.263;DP=743;ExcessHet=1.5895;FS=575.34;InbreedingCoeff=-0.4286;MLEAC=5;MLEAF=0.417;MQ=60;MQRankSum=0;QD=0.95;ReadPosRankSum=2.17;SOR=10.035	GT:AD:DP:GQ:PL	0/1:68,39:117:99:105,0,1070	2	0	4	4
chr1	228458208	228458208	G	A	exonic	H2BU1	.	nonsynonymous SNV	H2BU1:NM_175055:exon1:c.G79A:p.G27S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.064	0.00405835674396	.	.	2.475e-05	0	0	0	0	3.003e-05	0	6.086e-05	1.94e-05	3	154602	rs369836649	1.163e-05	1.163e-05	1.225e-05	1.1e-05	0.0009	7.08e-06	5.79e-06	0.0003	0.0002	2.987e-05	0	0	0	0	0.0009	8.993e-06	0	1.159e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.104	0.38160	T	0.149	0.27956	B	0.046	0.24676	B	0.000197	0.48115	D	0.000000	0.999677	0.48205	D	1.87	0.49600	L	.	.	.	.	.	.	0.264	0.29889	-1.0898	0.05565	T	0.045	0.19316	T	10	0.15058169	0.28478	T	0.004058	0.09681	T	.	.	0.292	0.25400	0.509583022956	0.50597	0.1546868903304836	0.15389	.	.	0.730206251144	0.71536	T	0.182546	0.53460	T	0.0725916	0.61163	D	-0.0366495	0.67927	D	0.813148021697998	0.47272	D	.	.	.	0.34120977	0.56375	0.46386588	0.68878	0.34120977	0.56375	0.46386588	0.68879	-6.92	0.53447	T	.	.	0.087	0.11269	B	.	.	3.713959	0.53031	23.3	0.9969301567844312	0.80044	0.65777	0.32851	D	AEFGBHCIJ	0.722162	0.67218	D	-0.0609191309425789	0.39117	2.301627	0.0307302989054863	0.41150	2.467416	0.999999999999851	0.74766	0.266657	0.04791	1	0.484254	0.07192	0	0.519653	0.09787	0	0.249971	0.05119	0	.	.	3.94	3.03	0.34070	6.193000	0.71999	3.491000	0.38715	0.618000	0.50648	1.000000	0.71638	0.999000	0.35428	0.997000	0.79791	0.1032:0.0:0.8968:0.0	9.759	0.39691	320	0.86992	Histone H2A/H2B/H3	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001057	0.000000	0.000000	0.008197	0.000000	0.000000	0.000000	0.000000	0.05	3346.43	265	chr1	228458208	.	G	A	3346.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=3.17;DP=596;ExcessHet=0;FS=2.104;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=56.99;MQRankSum=0.203;QD=12.63;ReadPosRankSum=-0.447;SOR=0.555	GT:AD:DP:GQ:PL	0/1:136,129:265:99:3358,0,3029	9	0	1	0
chr1	229635080	229635080	C	T	exonic	URB2	.	nonsynonymous SNV	URB2:NM_001314021:exon4:c.C467T:p.S156L,URB2:NM_014777:exon4:c.C467T:p.S156L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.104	.	0.0088	0.00858626	0.0022	0.0248	0.0006	0	0	6.009e-05	0	0	0.0022057	341	154602	rs115641620	0.0008	0.0008	0.0010	0.0007	0.0278	0.0008	0.0008	0.0263	0.0257	0.0278	0.0013	0	0	0	0.0024	0.0001	0.0017	4.64e-05	0.0073	0.0073	0.0078	0.0069	0.0257	0.0070	0.0068	0.0244	0.0239	0.0257	0	0.0017	0	0	0	0.0034	0.0002	0.0043	0	1.0	0.00964	T	0.934	0.02742	T	0.0	0.02946	B	0.0	0.01387	B	0.756927	0.09654	N	0.884065	1	0.08975	N	-0.445	0.02820	N	2.93	0.09822	T	1.74	0.00550	N	0.076	0.05037	-0.9573	0.39681	T	0.005	0.01651	T	9	0.0020188391	0.00028	T	.	.	.	0.104	0.29647	.	.	0.170165803431	0.16609	0.15993611947617298	0.15914	0.0727439940012	0.08152	0.320151597261	0.13444	T	0.018591	0.14961	T	-0.760009	0.00015	T	-0.842165	0.01066	T	0.00398967222480147	0.00042	T	0.59944	0.22338	T	0.032948308	0.03418	0.042877562	0.05207	0.032948308	0.03417	0.042877562	0.05206	-1.406	0.01582	T	.	.	0.063	0.01555	B	.	.	-0.973429	0.00809	0.027	0.19582083987002741	0.00667	0.02902	0.07697	N	AEFDBCI	0.023165	0.01253	N	-1.77738387545786	0.00603	0.02597671	-1.81066280415555	0.00726	0.03233553	0.999995522722188	0.74766	0.67177	0.52595	0	0.552637	0.17590	0	0.702456	0.68683	0	0.635551	0.53088	0	.	.	5.68	-7.55	0.01185	0.360000	0.19987	-0.450000	0.09105	-1.674000	0.00795	0.051000	0.21449	0.000000	0.08366	0.004000	0.06068	0.0:0.1135:0.0:0.8865	19.927	0.97106	503	0.75780	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.006546	0.005051	0.012228	0.002924	0.000000	0.000000	0.000000	0.000000	0.05	1382.43	93	chr1	229635080	.	C	T	1382.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.322;DP=422;ExcessHet=0;FS=2.712;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.86;ReadPosRankSum=0.614;SOR=0.83	GT:AD:DP:GQ:PL	0/1:42,51:93:99:1394,0,1069	9	0	1	0
chr1	230997144	230997144	C	G	exonic	ARV1	.	nonsynonymous SNV	ARV1:NM_022786:exon5:c.C697G:p.L233V,ARV1:NM_001346992:exon6:c.C796G:p.L266V	Epileptic encephalopathy, early infantile, 38, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.040	0.0101483338477	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.105e-06	4.036e-05	0	8.253e-06	4.498e-06	1.48e-06	9.7e-07	1.32e-06	9.6e-07	0	0	0	0	0	0	4.498e-06	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.497	0.28395	T	0.513	0.34959	T	0.015	0.17086	B	0.014	0.16862	B	0.014201	0.28601	N	0.326590	0.719665	0.29934	N	1.825	0.47900	L	2.42	0.15376	T	-0.57	0.17210	N	0.247	0.28498	-0.8946	0.48521	T	0.144	0.46696	T	10	0.14695045	0.27852	T	0.010148	0.26346	T	0.059	0.16972	0.52	0.62217	0.144782658237	0.14088	0.2988496531613489	0.29797	0.17694831345	0.19912	0.310675978661	0.12009	T	0.09055	0.41284	T	-0.2449	0.14731	T	-0.589559	0.13704	T	0.117653772953737	0.14198	T	0.676632	0.28519	T	0.03048213	0.02720	0.040253986	0.04309	0.03048213	0.02720	0.040253986	0.04309	-3.687	0.19127	T	0.2753478568538036	0.36973	0.073	0.10545	B	.;.	.;.	1.557274	0.19948	14.52	0.99655455466797294	0.77568	0.71254	0.34934	D	AEFBI	0.221071	0.34575	N	-0.0241663539820327	0.40764	2.426392	-0.0284452048485475	0.38436	2.264444	0.251855964395319	0.18688	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.42	4.42	0.52775	0.782000	0.26449	0.619000	0.20111	0.597000	0.34315	0.358000	0.25825	0.992000	0.31684	0.933000	0.47100	0.0:0.9124:0.0:0.0876	11.425	0.49247	791	0.46100	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05556	89.05	100	chr1	230997144	.	C	G	89.05	.	AC=1;AF=0.056;AN=18;BaseQRankSum=-4.121;DP=469;ExcessHet=0;FS=62.969;InbreedingCoeff=-0.0811;MLEAC=1;MLEAF=0.056;MQ=60;MQRankSum=0;QD=0.89;ReadPosRankSum=1.52;SOR=6.517	GT:AD:DP:GQ:PL	0/1:75,25:100:99:100,0,1510	8	0	1	1
chr1	231767229	231767229	C	T	exonic	DISC1	.	nonsynonymous SNV	DISC1:NM_001164556:exon3:c.C308T:p.T103M,DISC1:NM_001012957:exon5:c.C1358T:p.T453M,DISC1:NM_001012959:exon5:c.C1358T:p.T453M,DISC1:NM_001164538:exon5:c.C1358T:p.T453M,DISC1:NM_001164539:exon5:c.C1358T:p.T453M,DISC1:NM_001164541:exon5:c.C1358T:p.T453M,DISC1:NM_001164542:exon5:c.C1358T:p.T453M,DISC1:NM_001164544:exon5:c.C1358T:p.T453M,DISC1:NM_001164545:exon5:c.C1358T:p.T453M,DISC1:NM_001164546:exon5:c.C1358T:p.T453M,DISC1:NM_001164547:exon5:c.C1358T:p.T453M,DISC1:NM_001164548:exon5:c.C1358T:p.T453M,DISC1:NM_001164549:exon5:c.C1358T:p.T453M,DISC1:NM_018662:exon5:c.C1358T:p.T453M,DISC1:NM_001164537:exon6:c.C1454T:p.T485M	.	424	1081	17	0	0	17	0.00780174	.	.	.	3207149	DISC1-related_disorder	.	no_assertion_criteria_provided	Benign	.	.	.	.	.	.	.	.	0.114	0.00896775730547	0.0020	0.00139776	0.0035	0.0004	0.0015	0	0.0041	0.0033	0.0033	0.0091	0.0032406	501	154602	rs28930675	0.0039	0.0039	0.0037	0.0041	0.0093	0.0038	0.0038	0.0088	0.0086	0.0005	0.0020	0.0085	5.038e-05	0.0037	0.0038	0.0037	0.0040	0.0093	0.0029	0.0029	0.0027	0.0030	0.0058	0.0026	0.0026	0.0041	0.0036	0.0005	0.0164	0.0017	0.0078	0	0.0053	0	0.0038	0.0028	0.0058	0.122	0.29029	T	0.149	0.74150	T	0.988	0.62325	D	0.59	0.52893	P	0.037752	0.24364	N	0.423266	0.999871	0.19925	N	1.735	0.44892	L	2.28	0.17271	T	-2.09	0.47683	N	0.334	0.39861	-1.1039	0.03651	T	0.057	0.23980	T	10	0.011221498	0.00246	T	0.008968	0.23631	T	0.114	0.32008	.	.	0.400033932507	0.39614	0.1761544871001625	0.17534	0.545902157338	0.51602	0.40287950635	0.25470	T	0.378576	0.74152	T	-0.491059	0.00641	T	-0.470758	0.25434	T	0.0100088228678786	0.00134	T	0.868313	0.57527	D	0.037602905	0.04853	0.08156865	0.18549	0.037602905	0.04852	0.08156865	0.18548	-4.354	0.37717	T	.	.	0.174	0.38208	B	.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.	3.576273	0.50395	22.9	0.99821693904679432	0.90414	0.47723	0.28047	N	AEFBI	0.103985	0.20818	N	0.0459471302678091	0.43956	2.678572	-0.0864796244338646	0.35948	2.085954	0.0503693159255797	0.14837	0.615465	0.37627	0	0.610034	0.51514	0	0.618467	0.43123	0	0.655142	0.61905	0	.	.	3.74	3.74	0.42108	1.725000	0.37696	0.824000	0.21882	0.596000	0.33519	0.457000	0.26620	0.000000	0.08366	0.444000	0.27761	0.0:0.8923:0.0:0.1077	9.070	0.35647	827	0.39843	.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	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	0.000519	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.05	2515.43	200	chr1	231767229	.	C	T	2515.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.573;DP=511;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.58;ReadPosRankSum=-0.345;SOR=0.693	GT:AD:DP:GQ:PL	0/1:100,100:200:99:2527,0,2287	9	0	1	0
chr1	232986367	232986367	C	T	exonic	PCNX2	.	nonsynonymous SNV	PCNX2:NM_014801:exon33:c.G5965A:p.A1989T	.	426	1082	14	0	0	14	0.00642792	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.062	.	0.0021	0.00199681	0.0051	0.0002	0.0028	0.0002	0.0005	0.0054	0.0161	0.0098	0.0025808	399	154602	rs189263803	0.0023	0.0023	0.0021	0.0025	0.0078	0.0022	0.0022	0.0073	0.0072	0.0002	0.0011	0.0141	0	3.837e-05	0.0053	0.0019	0.0030	0.0078	0.0016	0.0015	0.0015	0.0017	0.0062	0.0014	0.0013	0.0045	0.0039	0.0002	0	0.0010	0.0115	0	0	0.0136	0.0019	0.0024	0.0062	1.0	0.00964	T	1.0	0.06903	T	0.0	0.02946	B	0.0	0.01387	B	0.433953	0.12712	N	0.729854	0.999758	0.20482	N	-2.3	0.00097	N	3.23	0.21473	T	1.57	0.00677	N	0.14	0.13911	-0.9931	0.31801	T	0.012	0.04510	T	10	0.0030025244	0.00049	T	.	.	.	0.062	0.17934	.	.	0.0401082797425	0.02173	0.13921839684612464	0.13844	0.144453412496	0.16320	0.33875721693	0.16252	T	6.02E-4	0.00251	T	-0.689983	0.00042	T	-0.757775	0.03192	T	0.000477364705026022	0.00004	T	0.284972	0.05045	T	0.026253127	0.01660	0.038096868	0.03603	0.026253127	0.01660	0.038096868	0.03603	-3.383	0.14829	T	.	.	0.055	0.00820	B	.;.	.;.	0.396921	0.07682	4.356	0.34823454421313882	0.02151	0.07750	0.13750	N	AEFDBCI	0.027067	0.02146	N	-1.21310237676887	0.04808	0.2178275	-1.02008771664494	0.09343	0.4643311	0.989150162898865	0.31739	0.634777	0.41761	0	0.670034	0.63936	0	0.643519	0.47002	0	0.567892	0.33627	0	.	.	5.71	2.02	0.25641	0.957000	0.28812	0.532000	0.19257	-0.114000	0.14653	1.000000	0.71638	0.999000	0.35428	0.798000	0.37648	0.1174:0.0643:0.123:0.6953	4.854	0.12913	932	0.16191	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.007599	0.010417	0.006793	0.000000	0.000000	0.017544	0.003106	0.022727	0.05	1928.43	105	chr1	232986367	.	C	T	1928.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.428;DP=466;ExcessHet=0;FS=5.241;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=18.37;ReadPosRankSum=-2.104;SOR=0.333	GT:AD:DP:GQ:PL	0/1:37,68:105:99:1940,0,891	9	0	1	0
chr1	236576911	236576911	T	C	exonic	HEATR1	.	nonsynonymous SNV	HEATR1:NM_018072:exon21:c.A2794G:p.K932E	.	429	1082	11	0	0	11	0.00505747	.	.	.	2220107	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.191	0.0224133999777	.	.	4.972e-05	0	0	0	0	3.011e-05	0	0.0002	3.88e-05	6	154602	rs759778339	4.932e-05	4.925e-05	3.134e-05	6.747e-05	0.0016	3.997e-05	3.674e-05	0.0008	0.0006	0	0	0.0002	0	0	0.0016	2.16e-05	9.944e-05	0.0003	2.629e-05	2.627e-05	2.569e-05	2.691e-05	0.0002	8.14e-06	5.14e-06	4.88e-06	1.83e-06	0	0	0	0.0003	0	0	0	2.939e-05	0	0.0002	0.686	0.04880	T	0.941	0.02693	T	0.323	0.33082	B	0.055	0.25995	B	0.005091	0.33107	N	0.315838	0.930272	0.27075	N	2.3	0.65703	M	-0.15	0.65192	T	-0.37	0.14588	N	0.397	0.48227	-0.9447	0.41863	T	0.162	0.49715	T	10	0.07619879	0.11872	T	0.022413	0.45296	T	0.191	0.46948	0.343	0.33626	0.821218725756	0.81953	0.1511427080458343	0.15036	0.153620100774	0.17329	0.330201566219	0.14965	T	0.004278	0.03690	T	-0.247292	0.14434	T	-0.241275	0.50673	T	0.135865324479741	0.15913	T	0.871313	0.62289	D	0.06734628	0.14576	0.075289495	0.16560	0.06734628	0.14575	0.075289495	0.16560	-3.747	0.20015	T	.	.	0.188	0.44669	B	.;.	.;.	3.366475	0.46504	22.3	0.99696241599004087	0.80316	0.85826	0.45003	D	AEFBCI	0.259425	0.37777	N	-0.319825785111508	0.28395	1.565855	-0.204534371892716	0.31372	1.774885	0.0411070197632296	0.14470	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.711	0.71501	0	.	.	5.36	4.24	0.49486	4.049000	0.57110	7.920000	0.74475	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.885000	0.42453	0.0:0.073:0.0:0.927	11.073	0.47235	928	0.17405	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	630.43	53	chr1	236576911	.	T	C	630.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.753;DP=372;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.89;ReadPosRankSum=0.431;SOR=0.76	GT:AD:DP:GQ:PL	0/1:30,23:53:99:642,0,773	9	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	2613.07	86	chr1	240207634	.	G	*	2613.07	.	AC=5;AF=0.25;AN=20;DP=619;ExcessHet=0.0952;FS=0.455;InbreedingCoeff=0.3407;MLEAC=5;MLEAF=0.25;MQ=60;QD=7.32;SOR=0.735	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:46,40:86:99:.:.:1518,0,1729:.	6	1	3	0
chr1	240207641	240207641	T	0	exonic	FMN2	.	.	.	Mental retardation, autosomal recessive 47, Autosomal recessive	570	612	17	0	323	340	0.0136986	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	2667.45	80	chr1	240207641	.	T	*	2667.45	.	AC=5;AF=0.25;AN=20;BaseQRankSum=-0.8;DP=628;ExcessHet=0.0952;FS=0;InbreedingCoeff=0.3407;MLEAC=5;MLEAF=0.25;MQ=59.99;MQRankSum=-0.926;QD=7.64;ReadPosRankSum=1.37;SOR=0.713	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:38,40:80:99:.:.:1537,0,1610:.	6	1	3	0
chr1	240207647	240207647	G	0	exonic	FMN2	.	.	.	Mental retardation, autosomal recessive 47, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	193.54	80	chr1	240207647	.	G	*	193.54	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.345;DP=586;ExcessHet=0.2348;FS=0;InbreedingCoeff=-0.1111;MLEAC=1;MLEAF=0.05;MQ=59.51;MQRankSum=0;QD=2.13;ReadPosRankSum=0.538;SOR=0.76	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:38,40:80:99:.:.:1537,0,1610:.	9	0	1	0
chr1	240207656	240207656	A	0	exonic	FMN2	.	.	.	Mental retardation, autosomal recessive 47, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	315.58	80	chr1	240207656	.	A	*	315.58	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.26;DP=590;ExcessHet=0.2348;FS=0;InbreedingCoeff=-0.1111;MLEAC=1;MLEAF=0.05;MQ=59.27;MQRankSum=0;QD=3.47;ReadPosRankSum=2.28;SOR=0.662	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:38,40:80:99:.:.:1537,0,1610:.	9	0	1	0
chr1	240207665	240207665	G	0	exonic	FMN2	.	.	.	Mental retardation, autosomal recessive 47, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	193.58	80	chr1	240207665	.	G	*	193.58	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.097;DP=635;ExcessHet=0.2348;FS=0;InbreedingCoeff=-0.1111;MLEAC=1;MLEAF=0.05;MQ=59.1;MQRankSum=0;QD=2.13;ReadPosRankSum=0.931;SOR=0.76	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:38,40:80:99:.:.:1537,0,1610:.	9	0	1	0
chr1	240207667	240207667	C	0	exonic	FMN2	.	.	.	Mental retardation, autosomal recessive 47, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	307.58	80	chr1	240207667	.	C	*	307.58	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.24;DP=637;ExcessHet=0.2348;FS=0;InbreedingCoeff=-0.1111;MLEAC=1;MLEAF=0.05;MQ=59.11;MQRankSum=0;QD=3.42;ReadPosRankSum=2.27;SOR=0.662	GT:AD:DP:GQ:PL	0/1:38,40:80:99:1537,0,1610	9	0	1	0
chr1	240207674	240207674	C	0	exonic	FMN2	.	.	.	Mental retardation, autosomal recessive 47, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	191.58	80	chr1	240207674	.	C	*	191.58	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.483;DP=635;ExcessHet=0.2348;FS=0;InbreedingCoeff=-0.1111;MLEAC=1;MLEAF=0.05;MQ=59.11;MQRankSum=0;QD=2.08;ReadPosRankSum=0.254;SOR=0.717	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:38,40:80:99:.:.:1537,0,1610:.	9	0	1	0
chr1	247100499	247100499	C	T	exonic	ZNF669	.	nonsynonymous SNV	ZNF669:NM_001142572:exon4:c.G1012A:p.G338S,ZNF669:NM_024804:exon4:c.G1270A:p.G424S	.	426	1091	5	0	0	5	0.00228624	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.088	0.0033317705588	7.7e-05	.	0.0001	9.61e-05	0	0	0.0006	0.0001	0.0022	0.0002	0.0001164	18	154602	rs202077184	0.0001	0.0001	9.665e-05	0.0001	0.0056	9.115e-05	8.645e-05	0.0040	0.0035	0.0001	8.944e-05	0	0	0.0004	0.0056	6.475e-05	0.0001	0.0002	8.543e-05	8.537e-05	7.709e-05	9.417e-05	0.0002	4.958e-05	3.963e-05	.	.	0	0	6.542e-05	0	0.0002	0.0007	0.0032	0	0.0014	0	0.055	0.41096	T	0.1	0.38742	T	0.001	0.07471	B	0.005	0.11217	B	.	.	.	.	1	0.81001	D	2.015	0.55033	M	3.21	0.07125	T	-5.32	0.84525	D	0.191	0.23632	-1.0693	0.09567	T	0.023	0.09832	T	9	0.0881789	0.15158	T	0.003332	0.07421	T	0.088	0.25558	.	.	0.0551355673512	0.04727	0.029414227290868733	0.02890	0.061800003408	0.06886	0.3433598876	0.16940	T	0.030112	0.21421	T	-0.458735	0.01001	T	-0.660049	0.08264	T	0.0740004468725726	0.09202	T	0.410559	0.10607	T	0.1581549	0.35596	0.18353015	0.41348	0.1581549	0.35596	0.18353015	0.41347	-6.196	0.49275	T	.	.	0.308	0.53595	B	.;.	.;.	1.454655	0.18762	13.91	0.8239120761692863	0.14168	0.01625	0.05246	N	AEFBCI	0.096690	0.19516	N	-0.819299021073128	0.12817	0.6272616	-0.951320271971084	0.10891	0.5515437	0.935677674601491	0.27223	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.635551	0.53088	0	.	.	0.544	0.544	0.16375	2.161000	0.41985	.	.	-0.784000	0.03305	0.692000	0.28550	0.000000	0.08366	0.027000	0.12703	0.0:0.9999:0.0:1.0E-4	6.887	0.23386	656	0.62345	.;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	0.004028	0.005051	0.002717	0.014620	0.000000	0.000000	0.003049	0.000000	0.05	2259.43	136	chr1	247100499	.	C	T	2259.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=3.95;DP=465;ExcessHet=0;FS=0.64;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=59.88;MQRankSum=0;QD=16.61;ReadPosRankSum=-1.815;SOR=0.801	GT:AD:DP:GQ:PL	0/1:60,76:136:99:2271,0,1352	9	0	1	0
chr1	247738768	247738768	C	T	exonic	OR14K1	.	nonsynonymous SNV	OR14K1:NM_001004732:exon1:c.C154T:p.R52C	.	426	1062	34	0	0	34	0.0157553	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.055	.	0.0066	0.00279553	0.0071	0.0009	0.0027	0	0.0012	0.0110	0.0111	0.0044	0.0070633	1092	154602	rs151028061	0.0076	0.0076	0.0073	0.0078	0.0200	0.0074	0.0073	0.0165	0.0153	0.0016	0.0046	0.0077	5.545e-05	0.0022	0.0200	0.0102	0.0082	0.0050	0.0054	0.0054	0.0058	0.0049	0.0088	0.0050	0.0049	0.0082	0.0080	0.0016	0	0.0046	0.0081	0	0.0009	0.0204	0.0088	0.0043	0.0052	0.122	0.27663	T	0.091	0.40110	T	.	.	.	.	.	.	0.130435	0.18659	U	0.376625	1	0.08975	N	.	.	.	7.73	0.00343	T	-3.71	0.70674	D	0.162	0.17002	-0.9128	0.46505	T	0.000	0.00152	T	7	0.013116866	0.00279	T	.	.	.	0.055	0.15663	.	.	0.0551355673512	0.04727	0.07891345326233465	0.07826	0.0838883208807	0.09463	.	.	.	0.019488	0.15519	T	-0.644886	0.00078	T	-0.689716	0.06405	T	0.0224859296631958	0.00963	T	0.252475	0.03851	T	0.09187855	0.21540	0.07249355	0.15646	0.09187855	0.21540	0.07249355	0.15646	-6.274	0.48516	T	.	.	0.087	0.11269	B	.	.	0.586348	0.09550	6.324	0.81515835373729739	0.13724	0.02242	0.06502	N	AEFBI	0.074102	0.14843	N	-0.952447968329772	0.09637	0.4570143	-1.1980015840912	0.05943	0.2846429	1.22797413150332E-4	0.05386	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.62	-6.07	0.01976	0.201000	0.17074	.	.	-1.040000	0.01667	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.4644:0.2507:0.1162:0.1687	1.914	0.03093	958	0.09170	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	2208.43	224	chr1	247738768	.	C	T	2208.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.361;DP=543;ExcessHet=0;FS=7.563;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.86;ReadPosRankSum=1.37;SOR=0.725	GT:AD:DP:GQ:PL	0/1:132,92:224:99:2220,0,3298	9	0	1	0
chr1	247841812	247841812	C	A	exonic	OR11L1	.	nonsynonymous SNV	OR11L1:NM_001001959:exon1:c.G85T:p.V29F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.027	0.000817092348505	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.32	0.13566	T	0.385	0.15746	T	0.009	0.15093	B	0.006	0.12133	B	0.807199	0.09279	U	0.862887	1	0.08975	N	0.87	0.21467	L	7.25	0.00428	T	-1.89	0.44094	N	0.139	0.13769	-0.9421	0.42282	T	0.001	0.00287	T	10	0.042234004	0.02953	T	8.17E-4	0.00670	T	0.027	0.05988	0.405	0.43738	0.354396617058	0.35051	0.1556322029912174	0.15484	0.0397869265571	0.04249	0.219152480364	0.01262	T	0.030666	0.21682	T	-0.293763	0.09262	T	-0.659747	0.08284	T	0.0588801167905331	0.06991	T	0.0724927	0.00530	T	0.07245021	0.16118	0.09013196	0.21117	0.07245021	0.16118	0.09013196	0.21116	-5.532	0.42166	T	.	.	0.084	0.09627	B	.	.	0.773909	0.11441	8.046	0.92764003248883453	0.22274	0.02678	0.07307	N	AEFDBI	0.030420	0.03061	N	-0.940465421774266	0.09908	0.4710711	-0.946974924739065	0.10993	0.5573292	1.97799550812837E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.2	1.25	0.20475	-2.355000	0.01168	.	.	0.542000	0.25261	0.000000	0.06391	0.000000	0.08366	0.084000	0.17470	0.1489:0.4526:0.145:0.2536	1.503	0.02332	964	0.07719	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	673.43	69	chr1	247841812	.	C	A	673.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.92;DP=458;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.76;ReadPosRankSum=0.111;SOR=0.765	GT:AD:DP:GQ:PL	0/1:42,27:69:99:685,0,1057	9	0	1	0
chr1	247896487	247896487	C	A	exonic	OR2W3	.	nonsynonymous SNV	OR2W3:NM_001001957:exon1:c.C901A:p.L301M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.220	0.00249526948336	.	.	8.38e-05	0	0	0	0	0	0	0.0006	6.47e-05	10	154602	rs780525144	2.806e-05	2.805e-05	6.808e-06	4.952e-05	0.0005	2.087e-05	1.879e-05	0.0004	0.0003	0	0	0	0	0	0	0	0	0.0005	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.214	0.19361	T	0.203	0.27325	T	1.0	0.90584	D	0.992	0.80445	D	0.000229	0.47286	D	0.000000	1	0.08975	N	1.08	0.27187	L	0.87	0.46412	T	-1.06	0.27669	N	0.281	0.31814	-0.9310	0.43992	T	0.202	0.55836	T	10	0.13607836	0.25892	T	0.002495	0.04953	T	0.220	0.51569	0.536	0.64585	0.308278614506	0.30437	0.16233420741761348	0.16153	.	.	0.279312282801	0.07396	T	0.007757	0.07145	T	-0.342709	0.05203	T	-0.393795	0.34107	T	0.103865139186382	0.12776	T	0.732927	0.34859	T	0.09771456	0.23037	0.08905937	0.20804	0.09771456	0.23037	0.08905937	0.20804	-5.231	0.39255	T	.	.	0.123	0.25753	B	.	.	0.522955	0.08917	5.698	0.65512603293005778	0.07794	0.08548	0.14462	N	AEFBI	0.058004	0.10850	N	-0.160545818934672	0.34789	1.98993	-0.384631754188764	0.25455	1.399936	3.83575852005089E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.19	2.28	0.27583	-0.211000	0.09336	.	.	0.542000	0.25261	0.000000	0.06391	0.000000	0.08366	0.161000	0.20682	0.0:0.7688:0.0:0.2312	9.970	0.40916	958	0.09170	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	835.43	58	chr1	247896487	.	C	A	835.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.115;DP=434;ExcessHet=0;FS=4.344;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.4;ReadPosRankSum=0.14;SOR=0.241	GT:AD:DP:GQ:PL	0/1:27,31:58:99:847,0,811	9	0	1	0
chr2	17515931	17515931	A	T	exonic	RAD51AP2	.	nonsynonymous SNV	RAD51AP2:NM_001099218:exon1:c.T2485A:p.Y829N,RAD51AP2:NM_001321233:exon5:c.T2458A:p.Y820N	.	467	1050	5	0	0	5	0.0023753	.	.	.	2427274	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.025	0.0224668206143	0.0003	.	0.0002	0	0	0	0	0.0002	0.0011	0.0008	0.0001811	28	154602	rs370600205	9.032e-05	9.577e-05	6.717e-05	0.0001	0.0010	7.749e-05	7.29e-05	0.0008	0.0007	0	0	0.0013	0	0	0.0004	6.311e-06	0.0001	0.0010	7.899e-05	7.884e-05	5.149e-05	0.0001	0.0010	4.504e-05	3.518e-05	0.0004	0.0003	0	0	0	0.0012	0	0	0	4.417e-05	0	0.0010	0.078	0.33923	T	0.074	0.42976	T	0.4	0.34852	B	0.252	0.39069	B	.	.	.	.	1	0.08975	N	0.805	0.20218	L	1.33	0.35031	T	-5.49	0.85765	D	0.292	0.33030	-0.9623	0.38742	T	0.056	0.23488	T	9	0.018589675	0.00406	T	0.022467	0.45362	T	0.025	0.05312	.	.	0.0762999501168	0.06990	0.07542390067140127	0.07478	0.140722918308	0.15870	0.291297465563	0.09110	T	0.069886	0.33822	T	-0.491776	0.00636	T	-0.55844	0.16523	T	0.0968670818173914	0.12007	T	0.605339	0.22755	T	0.14584185	0.33413	0.3256797	0.58482	0.14584185	0.33412	0.3256797	0.58481	-1.494	0.01752	T	.	.	0.086	0.10787	B	.	.	0.027255	0.04473	1.189	0.61537561846614452	0.06734	0.03399	0.08513	N	AEDGBI	0.043322	0.06836	N	-1.20696287281599	0.04897	0.2220251	-1.35854085801754	0.03706	0.1734319	0.999244826510629	0.38873	0.616025	0.39624	0	0.574621	0.32753	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.04	-6.59	0.01663	-0.392000	0.07375	-0.096000	0.11999	-0.070000	0.16343	0.000000	0.06391	0.000000	0.08366	0.363000	0.25954	0.5446:0.0995:0.3558:0.0	9.037	0.35458	768	0.49510	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.008621	0.000000	0.000000	0.05	2292.43	152	chr2	17515931	.	A	T	2292.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.65;DP=661;ExcessHet=0;FS=0.591;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=15.08;ReadPosRankSum=0.218;SOR=0.642	GT:AD:DP:GQ:PL	0/1:74,78:152:99:2304,0,2215	9	0	1	0
chr2	23864893	23864893	T	C	exonic	ATAD2B	.	nonsynonymous SNV	ATAD2B:NM_001242338:exon11:c.A1220G:p.H407R,ATAD2B:NM_017552:exon11:c.A1220G:p.H407R,ATAD2B:NM_001354107:exon12:c.A1262G:p.H421R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.084	0.0116478170939	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.077e-06	4.105e-06	4.129e-06	0	2.717e-06	5.5e-07	1.5e-07	7.2e-07	2e-07	0	0	0	0	0	0	2.717e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.448	0.09048	T	0.527	0.10209	T	.	.	.	.	.	.	.	.	.	.	0.955574	0.37932	D	.	.	.	-3.53	0.94764	D	-1.58	0.38151	N	0.19	0.20793	-0.8923	0.48731	T	0.148	0.47344	T	9	0.17789313	0.32846	T	0.011648	0.29486	T	0.219	0.51417	0.331	0.31681	0.672754582956	0.66998	0.6648068104265349	0.66417	0.60285670828	0.55282	0.627035319805	0.56724	T	.	.	.	0.0664316	0.60411	T	-0.142352	0.59914	T	0.361597471305519	0.27471	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.088	0.11845	B	.	.	3.381871	0.46779	22.4	0.96857722296242954	0.31369	0.92978	0.57018	D	AEFBI	0.378817	0.46207	N	0.214845505970457	0.51920	3.369515	0.360670962237465	0.59152	4.090821	0.916302595852516	0.26509	0.651	0.46895	0	0.708844	0.79440	0	0.658983	0.55881	0	0.683762	0.67416	0	.	.	5.84	5.84	0.93373	4.206000	0.58271	6.222000	0.55136	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:0.0:1.0	16.532	0.84210	788	0.46569	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3	149.87	81	chr2	23864893	.	T	C	149.87	.	AC=6;AF=0.3;AN=20;BaseQRankSum=-2.021;DP=546;ExcessHet=4.5998;FS=193.172;InbreedingCoeff=-0.4024;MLEAC=5;MLEAF=0.25;MQ=60;MQRankSum=0;QD=0.4;ReadPosRankSum=0.279;SOR=8.069	GT:AD:DP:GQ:PL	0/1:61,20:81:12:12,0,795	4	0	6	0
chr2	24838522	24838522	C	T	exonic	ADCY3	.	nonsynonymous SNV	ADCY3:NM_001377131:exon7:c.G733A:p.G245S,ADCY3:NM_001320613:exon8:c.G1456A:p.G486S,ADCY3:NM_001377129:exon8:c.G1456A:p.G486S,ADCY3:NM_001377130:exon8:c.G1456A:p.G486S,ADCY3:NM_001377132:exon8:c.G1456A:p.G486S,ADCY3:NM_004036:exon8:c.G1456A:p.G486S,ADCY3:NM_001377128:exon9:c.G1522A:p.G508S	.	.	.	.	.	.	.	.	.	.	.	3517033	ADCY3-related_disorder	.	no_assertion_criteria_provided	Uncertain_significance	.	.	.	.	.	.	.	.	0.572	0.0759767719127	.	.	1.648e-05	0	0	0.0001	0	0	0	6.056e-05	1.29e-05	2	154602	rs781005762	4.788e-06	4.788e-06	5.445e-06	4.125e-06	0.0001	1.99e-06	1.28e-06	3.348e-05	1.981e-05	0	0	0	0.0001	0	0	0	3.312e-05	1.159e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.028	0.46129	D	0.203	0.27325	T	0.998	0.73220	D	0.998	0.88582	D	0.000000	0.84330	D	0.000000	0.999864	0.50061	D	2.425	0.70256	M	-1.43	0.80899	T	-4.03	0.74348	D	0.362	0.40364	0.332	0.88060	D	0.670	0.88549	D	10	0.5813639	0.65868	D	0.075977	0.72421	D	0.572	0.82629	0.456	0.52102	0.932476638886	0.93178	0.8212082496318382	0.82077	1.17232149453	0.79799	0.578073561192	0.49814	T	0.702855	0.91459	D	-0.0746003	0.40588	T	-0.0805062	0.64867	T	0.934307217597961	0.60168	D	0.915408	0.69775	D	0.46917528	0.65239	0.37395668	0.62572	0.46917528	0.65239	0.37395668	0.62571	-7.154	0.55150	T	.	.	0.227	0.61623	B	.;.;.;.;.	.;.;.;.;.	4.792364	0.77791	26.8	0.99770843550868826	0.85918	0.93342	0.57960	D	AEFDBI	0.424908	0.48989	N	0.650395258936975	0.76393	6.47842	0.599160872759908	0.74879	6.212883	0.999818114375701	0.43459	0.706298	0.61202	0	0.643519	0.57511	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	4.77	4.77	0.60425	2.478000	0.44848	5.798000	0.49917	0.599000	0.40250	0.987000	0.36337	1.000000	0.68203	0.982000	0.59238	0.0:0.9149:0.0:0.0851	11.128	0.47551	355	0.85216	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	755.43	70	chr2	24838522	.	C	T	755.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.15;DP=384;ExcessHet=0;FS=0.941;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.79;ReadPosRankSum=1.51;SOR=0.931	GT:AD:DP:GQ:PL	0/1:39,31:70:99:767,0,970	9	0	1	0
chr2	26315648	26315648	T	A	exonic	ADGRF3	.	nonsynonymous SNV	ADGRF3:NM_001145169:exon5:c.A589T:p.S197C,ADGRF3:NM_001321971:exon5:c.A592T:p.S198C,ADGRF3:NM_001145168:exon6:c.A796T:p.S266C	.	417	1102	3	0	0	3	0.00135931	.	.	.	4131458	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.098	0.0080309282521	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1256277092	1.572e-05	1.505e-05	1.974e-05	1.159e-05	0.0004	1.029e-05	8.79e-06	6.2e-05	2.561e-05	0	0	0	0	0	0.0004	1.854e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.036	0.53900	D	0.038	0.52060	D	0.913	0.50474	P	0.408	0.44733	B	.	.	.	.	1	0.08975	N	.	.	.	2.7	0.12162	T	-1.37	0.37375	N	0.158	0.16447	-1.0171	0.24657	T	0.021	0.09101	T	9	0.10402852	0.19156	T	0.008031	0.21290	T	0.098	0.28162	0.343	0.33626	0.0401082797425	0.02173	0.26834281822512684	0.26747	0.267909689989	0.29325	0.253593206406	0.04155	T	0.037631	0.24544	T	-0.273979	0.11317	T	-0.631329	0.10314	T	0.360611438751221	0.27433	T	0.538946	0.18179	T	0.103003435	0.24342	0.089127354	0.20825	0.103003435	0.24342	0.089127354	0.20824	-7.092	0.54703	T	.	.	0.183	0.39630	B	.;.	.;.	2.681634	0.34985	19.78	0.97249565217930145	0.33033	0.03163	0.08134	N	AEFDBI	0.130249	0.24873	N	-0.759487728239239	0.14377	0.7156603	-0.892792307033934	0.12264	0.6298488	0.962735826445802	0.28642	0.549168	0.22868	0	0.588066	0.40923	0	0.467745	0.07146	0	0.616125	0.45549	0	.	.	5.35	-1.52	0.08181	-0.159000	0.10043	0.387000	0.17845	-0.157000	0.11712	0.002000	0.15269	0.126000	0.22952	0.255000	0.23391	0.0:0.2453:0.287:0.4676	4.758	0.12465	445	0.79730	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	1050.43	63	chr2	26315648	.	T	A	1050.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.107;DP=373;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=16.67;ReadPosRankSum=-1.431;SOR=0.775	GT:AD:DP:GQ:PL	0/1:27,36:63:99:1062,0,751	9	0	1	0
chr2	28602857	28602857	A	T	exonic	PLB1	.	nonsynonymous SNV	PLB1:NM_001170585:exon38:c.A2677T:p.N893Y,PLB1:NM_153021:exon39:c.A2710T:p.N904Y	.	421	1068	33	0	0	33	0.0152144	.	.	.	708220	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.194	.	0.0076	0.00419329	0.0075	0.0019	0.0038	0.0001	0.0039	0.0119	0.0044	0.0010	0.0077037	1191	154602	rs62131028	0.0095	0.0095	0.0095	0.0094	0.0196	0.0093	0.0093	0.0167	0.0156	0.0017	0.0065	0.0031	0	0.0047	0.0196	0.0113	0.0072	0.0008	0.0079	0.0079	0.0087	0.0070	0.0128	0.0075	0.0073	0.0121	0.0118	0.0018	0.0636	0.0074	0.0023	0	0.0032	0.0238	0.0128	0.0114	0.0010	0.014	0.53172	D	0.066	0.46862	T	0.996	0.68779	D	0.942	0.68276	D	0.690535	0.10180	N	0.876510	0.994618	0.42349	D	2.055	0.56616	M	1.97	0.22067	T	-3.24	0.65171	D	0.507	0.54757	-0.9338	0.43575	T	0.146	0.47111	T	10	0.011125952	0.00244	T	.	.	.	0.194	0.47447	.	.	0.28722502521	0.28325	0.507021051752842	0.50624	0.266147058046	0.29158	0.373483419418	0.21330	T	0.014682	0.12455	T	-0.463152	0.00939	T	-0.427031	0.30272	T	0.0316246991587704	0.02246	T	0.523348	0.17107	T	0.18547012	0.39911	0.20416965	0.44528	0.18547012	0.39911	0.20416965	0.44527	-5.518	0.43756	T	.	.	0.166	0.36515	B	.;.	.;.	2.384660	0.30617	18.49	0.98833238558356562	0.46985	0.41386	0.26646	N	AEFGBCI	0.144894	0.26797	N	-0.485391068914976	0.22559	1.20541	-0.554305337579765	0.20692	1.115963	0.999901859361026	0.45458	0.553676	0.25195	0	0.588015	0.36545	0	0.547309	0.15389	0	0.567892	0.33627	0	.	.	6.07	0.242	0.14759	2.239000	0.42728	3.441000	0.38381	-0.137000	0.12594	1.000000	0.71638	0.998000	0.33993	0.089000	0.17737	0.4886:0.0:0.5114:0.0	11.107	0.47431	759	0.50631	GDSL lipase/esterase|Phospholipase B;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.013092	0.015152	0.021739	0.008772	0.000000	0.034483	0.006098	0.003788	0.05	1797.43	130	chr2	28602857	.	A	T	1797.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.998;DP=451;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.83;ReadPosRankSum=0.922;SOR=0.677	GT:AD:DP:GQ:PL	0/1:59,71:130:99:1809,0,1454	9	0	1	0
chr2	29071662	29071662	G	A	exonic	PCARE	.	nonsynonymous SNV	PCARE:NM_001029883:exon1:c.C2600T:p.P867L	.	0	1485	36	1	0	38	0.012633	.	.	.	177344	PCARE-related_disorder|not_provided|not_specified|Retinitis_pigmentosa_54|Retinitis_pigmentosa	.|MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0013263,MedGen:C3150691,OMIM:613428,Orphanet:791|Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:791	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.029	0.0036451874102	0.0018	0.000998403	0.0015	0.0004	0.0017	0	0.0017	0.0021	0.0034	0.0005	0.0015071	233	154602	rs182248363	0.0022	0.0022	0.0021	0.0022	0.0215	0.0021	0.0021	0.0184	0.0173	0.0007	0.0031	0.0030	0	0.0021	0.0215	0.0022	0.0034	0.0009	0.0019	0.0019	0.0019	0.0019	0.0054	0.0017	0.0017	0.0044	0.0041	0.0005	0	0.0054	0.0032	0	0.0013	0.0272	0.0021	0.0033	0.0008	1.0	0.00964	T	0.425	0.13912	T	0.004	0.12183	B	0.001	0.04355	B	0.392844	0.13231	N	0.685825	1	0.08975	N	.	.	.	2.61	0.13095	T	3.05	0.00134	N	0.097	0.07811	-0.9297	0.44183	T	0.010	0.03492	T	10	0.003376186	0.00059	T	0.003645	0.08371	T	0.029	0.06676	.	.	0.0716867268079	0.06686	0.04218015526180348	0.04163	0.0132068873467	0.01271	.	.	.	0.005117	0.04559	T	-0.733535	0.00023	T	-0.83044	0.01254	T	0.00110661854475679	0.00011	T	0.493751	0.15260	T	0.015144684	0.00124	0.027302949	0.00874	0.015144684	0.00124	0.027302949	0.00874	-3.959	0.23188	T	.	.	0.064	0.01645	B	.	.	-0.137698	0.03423	0.624	0.33965375538205167	0.02052	0.01676	0.05356	N	AEFDBI	0.034659	0.04332	N	-1.40349762555176	0.02608	0.1153987	-1.34441941115392	0.03872	0.1815065	0.0925815948388823	0.16162	0.497415	0.19182	0	0.547309	0.14657	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.54	-0.756	0.10500	1.406000	0.34254	-1.083000	0.06383	-0.169000	0.11342	0.027000	0.20232	0.000000	0.08366	0.002000	0.04165	0.3388:0.0:0.1847:0.4764	4.835	0.12825	449	0.79428	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.022659	0.020202	0.019022	0.043860	0.050000	0.043103	0.003049	0.007576	0.05	4819.43	341	chr2	29071662	.	G	A	4819.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=5.61;DP=811;ExcessHet=0;FS=1.324;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.13;ReadPosRankSum=0.378;SOR=0.602	GT:AD:DP:GQ:PL	0/1:173,168:341:99:4831,0,3953	9	0	1	0
chr2	30787266	30787266	G	T	exonic	CAPN13	.	nonsynonymous SNV	CAPN13:NM_144575:exon2:c.C60A:p.D20E	.	423	1072	24	3	0	30	0.0137994	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.286	.	0.0008	0.00159744	0.0020	0.0002	0.0005	0.0001	0	0.0009	0.0013	0.0108	0.0014877	230	154602	rs186665118	0.0012	0.0012	0.0009	0.0015	0.0099	0.0012	0.0011	0.0094	0.0091	0.0001	0.0004	0.0038	0	0.0001	0.0057	0.0006	0.0013	0.0099	0.0008	0.0008	0.0007	0.0010	0.0064	0.0007	0.0007	0.0046	0.0040	0.0001	0	0.0008	0.0023	0.0002	9.409e-05	0.0102	0.0009	0.0019	0.0064	0.0	0.91255	D	0.009	0.66756	D	0.999	0.77913	D	0.997	0.86255	D	0.000000	0.84330	D	0.000000	0.992115	0.41558	D	2.8	0.81625	M	2.27	0.17431	T	-3.52	0.68412	D	0.389	0.43029	-0.9605	0.39087	T	0.123	0.42462	T	10	0.01113826	0.00245	T	.	.	.	0.286	0.60456	0.488	0.57257	0.433600339574	0.42977	0.13155275051212412	0.13080	0.371328992948	0.38632	0.471630513668	0.34905	T	0.137041	0.46976	T	-0.391703	0.02623	T	-0.328181	0.41672	T	0.0686771185556789	0.08464	T	0.665633	0.27494	T	0.68386453	0.77178	0.5323688	0.72979	0.68386453	0.77179	0.5323688	0.72980	-7.263	0.55932	T	.	.	0.51	0.65033	A	.	.	2.903207	0.38485	20.7	0.99652407849805069	0.77380	0.91318	0.53292	D	AEFBI	0.382236	0.46420	N	0.609953128654248	0.73804	6.026306	0.505260276834116	0.68344	5.207073	0.863488335061286	0.25272	0.638212	0.43195	0	0.59043	0.45803	0	0.653264	0.51672	0	0.564101	0.26826	0	.	.	5.91	4.09	0.47038	1.732000	0.37769	2.946000	0.35689	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.033000	0.13494	0.1434:0.0:0.8566:0.0	8.962	0.35013	814	0.42100	Peptidase C2, calpain, catalytic domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.006042	0.000000	0.002717	0.002924	0.000000	0.025862	0.006098	0.011364	0.05	1820.43	129	chr2	30787266	.	G	T	1820.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.795;DP=449;ExcessHet=0;FS=0.657;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.11;ReadPosRankSum=-1.027;SOR=0.715	GT:AD:DP:GQ:PL	0/1:55,74:129:99:1832,0,1380	9	0	1	0
chr2	38986117	38986117	G	C	exonic	SOS1	.	nonsynonymous SNV	SOS1:NM_001382395:exon22:c.C3664G:p.P1222A,SOS1:NM_001382394:exon23:c.C3688G:p.P1230A,SOS1:NM_005633:exon23:c.C3709G:p.P1237A	Noonan syndrome 4, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	286291	Noonan_syndrome|not_provided|Fibromatosis,_gingival,_1|Noonan_syndrome_4|not_specified|Cardiovascular_phenotype|Noonan_syndrome_and_Noonan-related_syndrome|RASopathy	MONDO:MONDO:0018997,MeSH:D009634,MedGen:C0028326,OMIM:PS163950,Orphanet:648|MedGen:C3661900|MONDO:MONDO:0007609,MedGen:C4551558,OMIM:135300,Orphanet:2024|MONDO:MONDO:0012547,MedGen:C1853120,OMIM:610733,Orphanet:648|MedGen:CN169374|MedGen:CN230736|MONDO:MONDO:0020297,MedGen:C5681679,Orphanet:98733|MONDO:MONDO:0021060,MedGen:C5555857,Orphanet:536391	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.438	0.086819344424	0.0002	0.000199681	8.244e-05	0	0.0002	0	0	0.0001	0	6.057e-05	7.12e-05	11	154602	rs371408734	8.347e-05	8.345e-05	8.304e-05	8.389e-05	0.0005	7.137e-05	6.685e-05	0.0001	7.546e-05	8.967e-05	6.712e-05	0	2.519e-05	3.745e-05	0.0005	8.814e-05	8.281e-05	8.116e-05	0.0002	0.0002	0.0001	0.0002	0.0008	0.0001	8.721e-05	0.0003	0.0002	0.0002	0	0	0	0	0	0	0.0002	0	0.0008	0.0	0.91255	D	0.09	0.40267	T	0.999	0.77913	D	0.986	0.76916	D	0.000001	0.84330	D	0.055972	1	0.81001	D	2.215	0.62545	M	-1.0	0.79944	T	-2.91	0.66325	D	0.278	0.40264	0.181	0.85591	D	0.635	0.87211	D	10	0.18823591	0.34369	T	0.086819	0.74813	D	0.438	0.74235	.	.	0.646203778028	0.64327	0.23186219116492843	0.23101	0.480892332608	0.47098	0.701085925102	0.67300	T	0.779791	0.94176	D	-0.0357518	0.46578	T	-0.0737964	0.65354	T	0.179367551205944	0.19195	T	0.925407	0.72589	D	0.36734417	0.58388	0.46852204	0.69172	0.36734417	0.58388	0.46852204	0.69172	-5.326	0.40200	T	0.2330895937437511	0.31551	0.090	0.12418	B	.;.;.	.;.;.	4.257812	0.64686	24.7	0.98714088217045992	0.45098	0.99783	0.99435	D	AEFGBI	0.852054	0.76895	D	0.828825055297701	0.87870	9.370679	0.842019994615971	0.92541	11.48647	0.99999999997398	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.8	5.8	0.92081	8.812000	0.91581	10.039000	0.83181	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:1.0:0.0	20.059	0.97662	459	0.78817	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1191.43	100	chr2	38986117	.	G	C	1191.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.911;DP=419;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.91;ReadPosRankSum=-0.921;SOR=0.619	GT:AD:DP:GQ:PL	0/1:50,50:100:99:1203,0,1338	9	0	1	0
chr2	43398139	43398139	C	A	exonic	THADA	.	nonsynonymous SNV	THADA:NM_001083953:exon29:c.G4059T:p.R1353S,THADA:NM_001345923:exon29:c.G4056T:p.R1352S,THADA:NM_001345924:exon29:c.G3936T:p.R1312S,THADA:NM_022065:exon29:c.G4059T:p.R1353S,THADA:NM_001345925:exon30:c.G4059T:p.R1353S	.	424	1078	19	1	0	21	0.0096463	0.4170	0.408	.	697569	not_provided|THADA-related_disorder	MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.143	.	0.0043	0.00638978	0.0072	0.0013	0.0014	0.0001	0.0068	0.0054	0.0078	0.0264	0.0066687	1031	154602	rs56269749	0.0069	0.0069	0.0062	0.0075	0.0249	0.0067	0.0067	0.0240	0.0236	0.0010	0.0013	0.0034	0.0004	0.0055	0.0057	0.0063	0.0057	0.0249	0.0046	0.0046	0.0043	0.0049	0.0251	0.0043	0.0042	0.0215	0.0201	0.0011	0	0.0036	0.0046	0.0002	0.0043	0	0.0059	0.0038	0.0251	0.004	0.65419	D	0.076	0.42614	T	0.219	0.30243	B	0.029	0.21540	B	0.000000	0.84330	D	0.000000	0.997164	0.81001	D	2.315	0.66250	M	-0.06	0.63568	T	-2.65	0.56787	D	0.63	0.64393	-0.8032	0.54956	T	0.206	0.56444	T	10	0.012718201	0.00272	T	0.057885	0.67124	D	0.274	0.59007	0.529	0.63560	0.0920862733494	0.08535	0.6495077970633159	0.64886	.	.	0.485346436501	0.36794	T	0.108598	0.42176	T	-0.17196	0.24937	T	-0.000188116	0.70324	D	0.0516185747774757	0.05782	T	0.893211	0.63049	D	0.5609524	0.70562	0.3468483	0.60347	0.5609524	0.70563	0.3468483	0.60347	-7.898	0.60373	D	.	.	0.503	0.64966	A	.;.	.;.	2.706825	0.35375	19.88	0.99550026622811405	0.71086	0.66201	0.32996	D	AEFBCI	0.392031	0.47024	N	-0.440631999455511	0.24058	1.296417	-0.388287231909239	0.25345	1.393255	0.999467665782589	0.39843	0.706298	0.61202	0	0.709663	0.81188	0	0.709663	0.75317	0	0.655142	0.61905	0	.	.	5.41	1.09	0.19517	0.094000	0.14946	-0.472000	0.08972	-0.181000	0.10308	0.987000	0.36337	0.058000	0.21979	0.955000	0.50612	0.0:0.516:0.0:0.484	8.380	0.31627	927	0.17636	.;.	.	.	.	.	.	Likely benign	0	0	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	0.006067	0.005102	0.004076	0.008772	0.000000	0.000000	0.003086	0.018939	0.05	724.43	57	chr2	43398139	.	C	A	724.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.985;DP=433;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.71;ReadPosRankSum=-0.616;SOR=0.571	GT:AD:DP:GQ:PL	0/1:27,30:57:99:736,0,782	9	0	1	0
chr2	43814512	43814512	A	G	exonic	ABCG5	.	nonsynonymous SNV	ABCG5:NM_022436:exon12:c.T1727C:p.V576A	Sitosterolemia, Autosomal recessive	0	224	2	0	0	2	0.00444444	.	.	.	1831471	Cardiovascular_phenotype|Sitosterolemia_2	MedGen:CN230736|MONDO:MONDO:0020748,MedGen:C5231453,OMIM:618666	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.214	0.0214091901661	.	.	0.0001	0	0	0	0	3.009e-05	0	0.0007	8.41e-05	13	154602	rs757537317	4.806e-05	4.788e-05	2.187e-05	7.449e-05	0.0007	3.874e-05	3.553e-05	0.0005	0.0005	0	0	0	0	0	0.0002	9.029e-06	4.981e-05	0.0007	3.941e-05	3.94e-05	3.853e-05	4.034e-05	0.0006	1.715e-05	1.129e-05	0.0002	8.985e-05	0	0	6.542e-05	0	0	0	0	2.94e-05	0	0.0006	0.294	0.14793	T	0.003	0.76473	D	0.22	0.30288	B	0.06	0.26717	B	0.723889	0.09912	N	0.871644	0.932395	0.37020	D	1.7	0.43825	L	-0.62	0.71895	T	-1.24	0.31375	N	0.15	0.15328	-0.8446	0.52338	T	0.226	0.59032	T	10	0.14068514	0.26740	T	0.021409	0.44174	T	0.214	0.50650	.	.	0.714975409369	0.71247	0.671270286764992	0.67065	0.0846513009149	0.09566	0.279658198357	0.07445	T	0.314632	0.68630	T	-0.262973	0.12554	T	-0.263801	0.48443	T	0.122982457280159	0.14719	T	0.547145	0.18749	T	0.32402563	0.54977	0.1514972	0.35685	0.32402563	0.54977	0.1514972	0.35684	-4.649	0.32781	T	.	.	0.201	0.42520	B	.;.	.;.	3.233267	0.44098	21.9	0.99817172106228702	0.90061	0.94876	0.62637	D	AEFIJ	0.863110	0.78157	D	-0.137086831183529	0.35786	2.059967	0.02683452153434	0.40965	2.453319	0.994708951448747	0.33762	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	5.22	5.22	0.72285	6.075000	0.70893	8.021000	0.76231	0.756000	0.94297	0.635000	0.28042	0.998000	0.33993	0.951000	0.49849	1.0:0.0:0.0:0.0	14.944	0.70669	650	0.62973	ABC-2 type transporter;ABC-2 type transporter	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.002941	0.000000	0.000000	0.000000	0.000000	0.05	1688.43	160	chr2	43814512	.	A	G	1688.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.695;DP=476;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.55;ReadPosRankSum=1.71;SOR=0.693	GT:AD:DP:GQ:PL	0/1:90,70:160:99:1700,0,2303	9	0	1	0
chr2	47804959	47804959	A	T	exonic	MSH6	.	nonsynonymous SNV	MSH6:NM_001281492:exon4:c.A3098T:p.E1033V,MSH6:NM_001281493:exon5:c.A2582T:p.E861V,MSH6:NM_000179:exon6:c.A3488T:p.E1163V,MSH6:NM_001281494:exon6:c.A2582T:p.E861V	Colorectal cancer, hereditary nonpolyposis, type 5, Autosomal dominant;Endometrial cancer, familial;Mismatch repair cancer syndrome, Autosomal recessive	0	1519	3	0	0	3	0.000986518	.	.	YES	94874	not_specified|Breast_and/or_ovarian_cancer|Hereditary_cancer-predisposing_syndrome|Carcinoma_of_colon|Lynch_syndrome_5|Hereditary_nonpolyposis_colorectal_neoplasms|not_provided|Lynch_syndrome	MedGen:CN169374|MedGen:CN221562|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MONDO:MONDO:0002032,MedGen:C0699790|MONDO:MONDO:0013710,MedGen:C1833477,OMIM:614350,Orphanet:144|MeSH:D003123,MedGen:C0009405|MedGen:C3661900|MONDO:MONDO:0005835,MedGen:C4552100,Orphanet:144	reviewed_by_expert_panel	Likely_benign	.	.	.	.	.	.	.	.	0.840	.	.	0.00279553	0.0012	0	8.667e-05	0.0138	0	7.496e-05	0.0022	0.0010	0.0010802	167	154602	rs63750252	0.0004	0.0004	0.0004	0.0004	0.0103	0.0004	0.0003	0.0095	0.0092	0	0	0	0.0103	0	0.0005	4.766e-05	0.0004	0.0009	0.0005	0.0005	0.0005	0.0006	0.0123	0.0004	0.0004	0.0099	0.0090	0	0	0	0	0.0123	0	0	8.819e-05	0.0009	0.0010	0.022	0.51853	D	0.153	0.42976	T	0.571	0.38591	P	0.403	0.44588	B	0.000000	0.84330	D	0.000000	1	0.81001	D	2.745	0.80253	M	-2.12	0.86283	D	-3.98	0.73788	D	0.86	0.87590	0.129	0.84689	D	0.510	0.81599	D	10	0.013140768	0.00280	T	.	.	.	0.840	0.94989	.	.	0.924306082134	0.92354	0.9243824648130101	0.92415	.	.	0.533389091492	0.43513	T	0.319181	0.94555	T	0.084892	0.62607	D	0.359553	0.90685	D	0.135960689671526	0.15922	T	0.938606	0.76932	D	0.6837103	0.77170	0.39562547	0.64225	0.63388646	0.74507	0.48408118	0.70134	-7.78	0.59561	D	0.4023925418249253	0.49400	0.209	0.53686	B	.;.;.;.;.	.;.;.;.;.	4.473484	0.69731	25.4	0.99353589842072743	0.60697	0.97612	0.75899	D	AEFBCI	0.932207	0.92221	D	0.493220521004645	0.66693	4.983205	0.535176624860856	0.70373	5.495659	0.999999923858194	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.23	5.23	0.72570	8.923000	0.92370	11.224000	0.89870	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	1.0:0.0:0.0:0.0	15.123	0.72137	911	0.21964	.;.;DNA mismatch repair protein MutS, C-terminal|DNA mismatch repair protein MutS, C-terminal;DNA mismatch repair protein MutS, C-terminal|DNA mismatch repair protein MutS, C-terminal;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.05	1678.43	131	chr2	47804959	.	A	T	1678.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.829;DP=449;ExcessHet=0;FS=1.382;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.81;ReadPosRankSum=0.802;SOR=0.836	GT:AD:DP:GQ:PL	0/1:63,68:131:99:1690,0,1622	9	0	1	0
chr2	55254736	55254736	C	G	exonic	MTIF2	.	nonsynonymous SNV	MTIF2:NM_001321004:exon5:c.G421C:p.V141L,MTIF2:NM_001321001:exon6:c.G421C:p.V141L,MTIF2:NM_001321002:exon6:c.G421C:p.V141L,MTIF2:NM_002453:exon6:c.G421C:p.V141L,MTIF2:NM_001005369:exon7:c.G421C:p.V141L,MTIF2:NM_001321003:exon7:c.G421C:p.V141L	.	452	1067	3	0	0	3	0.00140384	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.077	0.0145398821229	7.7e-05	0.000399361	0.0003	0	8.655e-05	0	0	4.502e-05	0.0022	0.0015	0.0002135	33	154602	rs368244847	0.0001	0.0001	7.366e-05	0.0002	0.0016	0.0001	9.786e-05	0.0013	0.0012	0	0	0	0	0	0.0016	2.251e-05	0.0001	0.0015	6.567e-05	6.562e-05	3.855e-05	9.402e-05	0.0012	3.515e-05	2.615e-05	0.0005	0.0004	2.406e-05	0	0	0	0	0	0	4.412e-05	0	0.0012	0.068	0.35726	T	0.107	0.37730	T	0.485	0.36856	P	0.133	0.33073	B	0.001164	0.39978	N	0.253448	0.978887	0.39506	D	2.625	0.76847	M	0.34	0.58176	T	-1.6	0.38540	N	0.364	0.40565	-0.9198	0.45581	T	0.138	0.45602	T	10	0.026729077	0.00833	T	0.01454	0.34724	T	0.077	0.22490	0.426	0.47185	0.660851695494	0.65801	0.42786537976533223	0.42703	0.0912430136936	0.10305	0.487287402153	0.37063	T	0.18712	0.54062	T	-0.334859	0.05753	T	-0.278405	0.46966	T	0.0778927836290839	0.09715	T	0.888711	0.61924	D	0.12702103	0.29735	0.10991487	0.26497	0.11431674	0.26990	0.11695301	0.28231	-6.216	0.48053	T	.	.	0.400	0.62806	A	.;.;.	.;.;.	3.427632	0.47621	22.5	0.99366370038758134	0.61240	0.97475	0.74988	D	AEFBI	0.595920	0.59029	D	0.115335306755615	0.47179	2.947181	0.206360729454173	0.50200	3.214575	0.684668546286875	0.22519	0.732398	0.92422	0	0.743671	0.97443	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	5.87	5.0	0.66209	4.021000	0.56907	3.242000	0.36972	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.875000	0.41745	0.0:0.8025:0.0:0.1975	9.630	0.38936	391	0.83213	.;.;.	.	.	.	.	.	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	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.05	1347.43	133	chr2	55254736	.	C	G	1347.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.352;DP=447;ExcessHet=0;FS=5.357;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.13;ReadPosRankSum=-1.066;SOR=0.37	GT:AD:DP:GQ:PL	0/1:72,61:133:99:1359,0,1727	9	0	1	0
chr2	68526201	68526201	T	C	exonic	APLF	.	nonsynonymous SNV	APLF:NM_173545:exon6:c.T763C:p.C255R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.033	0.0031187522936	.	.	8.249e-06	0	0	0	0.0002	0	0	0	6.5e-06	1	154602	rs777116731	4.794e-06	4.788e-06	1.363e-06	8.262e-06	.	1.99e-06	1.28e-06	.	.	0	0	0	0	0.0001	0	0	0	0	1.317e-05	1.314e-05	1.286e-05	1.349e-05	1.471e-05	2.19e-06	8.2e-07	.	.	0	0	0	0	0	9.475e-05	0	1.471e-05	0	0	0.092	0.31682	T	0.353	0.17320	T	0.435	0.35719	B	0.219	0.37734	B	0.079193	0.02335	N	1.676380	0.996328	0.23049	N	1.7	0.43825	L	1.98	0.21865	T	-3.95	0.73477	D	0.412	0.45237	-1.0472	0.15188	T	0.060	0.25163	T	10	0.11268285	0.21144	T	0.003119	0.06786	T	0.033	0.08068	0.308	0.27967	0.292423486923	0.28857	0.19501194953973486	0.19419	0.158933463977	0.17935	0.40246206522	0.25412	T	0.132156	0.46208	T	-0.212414	0.19041	T	-0.542895	0.18012	T	0.496567845344543	0.32504	T	0.542346	0.18433	T	0.34546545	0.56712	0.31265268	0.57266	0.34546545	0.56712	0.31265268	0.57265	-2.437	0.05365	T	.	.	0.092	0.13597	B	.	.	2.073634	0.26374	17.09	0.80385875384898153	0.13178	0.10502	0.15991	N	AEFI	0.095326	0.19261	N	-0.337247178604872	0.27743	1.524636	-0.42328015915737	0.24315	1.330864	2.57199585557588E-5	0.03498	0.638212	0.43195	0	0.670034	0.63936	0	0.658983	0.55881	0	0.620846	0.47308	0	.	.	4.71	2.31	0.27816	1.632000	0.36715	2.531000	0.33168	0.605000	0.46263	0.036000	0.20778	0.946000	0.28899	0.123000	0.19290	0.1971:0.1039:0.0:0.6991	3.504	0.07246	828	0.39726	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	848.43	83	chr2	68526201	.	T	C	848.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.714;DP=400;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.22;ReadPosRankSum=1.45;SOR=0.668	GT:AD:DP:GQ:PL	0/1:43,40:83:99:860,0,1102	9	0	1	0
chr2	68866476	68866476	C	T	exonic	BMP10	.	nonsynonymous SNV	BMP10:NM_014482:exon2:c.G430A:p.E144K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.828	0.165851480792	.	.	1.654e-05	0	0	0	0	0	0	0.0001	1.29e-05	2	154602	rs750438622	3.421e-06	3.42e-06	2.723e-06	4.125e-06	5.797e-05	1e-06	7.3e-07	2.194e-05	1.43e-05	0	0	0	0	0	0	0	0	5.797e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.006	0.70582	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.52	0.73523	M	-0.73	0.73100	T	-3.25	0.65283	D	0.955	0.96416	0.227	0.86371	D	0.586	0.85149	D	10	0.96778953	0.96299	D	0.165851	0.84461	D	0.828	0.94541	0.837	0.94418	0.848838842824	0.84739	0.9377685575499655	0.93756	1.0664861996	0.76637	0.62247210741	0.56078	T	0.880769	0.97499	D	0.237348	0.77410	D	0.284685	0.87372	D	0.79102804609368	0.45757	D	0.939806	0.77272	D	0.8191248	0.85161	0.74604064	0.84989	0.8191248	0.85162	0.74604064	0.84990	-7.75	0.59354	D	.	.	0.668	0.71640	P	.	.	4.707895	0.75603	26.4	0.99932470607961787	0.99439	0.99657	0.98405	D	AEFBI	0.942832	0.94791	D	0.897757908978927	0.91649	10.99188	0.871631397603469	0.94212	12.58918	0.999999999999918	0.74766	0.516011	0.20929	0	0.610034	0.51514	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	5.83	5.83	0.93059	7.715000	0.83682	7.682000	0.65344	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.967000	0.53440	0.0:1.0:0.0:0.0	19.108	0.93286	829	0.39537	TGF-beta, propeptide	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1	5342.14	220	chr2	68866476	.	C	T	5342.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-1.373;DP=697;ExcessHet=0.2348;FS=5.259;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=13.03;ReadPosRankSum=1.02;SOR=0.41	GT:AD:DP:GQ:PL	0/1:109,111:220:99:2916,0,2940	8	0	2	0
chr2	68871273	68871273	T	G	exonic	BMP10	.	nonsynonymous SNV	BMP10:NM_014482:exon1:c.A86C:p.Q29P	.	418	1103	1	0	0	1	0.000453104	.	.	.	2220695	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.167	0.0093023754331	.	.	1.649e-05	0	8.652e-05	0	0	0	0	6.062e-05	1.29e-05	2	154602	rs745609188	7.525e-06	7.524e-06	6.806e-06	8.25e-06	2.236e-05	4.04e-06	2.95e-06	4.55e-06	3.32e-06	0	2.236e-05	0	0	0	0	8.993e-06	0	0	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	0.043	0.41364	D	0.204	0.27235	T	0.0	0.02946	B	0.0	0.01387	B	0.208608	0.16421	N	0.555808	0.983868	0.24849	N	1.24	0.30952	L	-0.83	0.74159	T	0.3	0.04091	N	0.309	0.34874	-1.0115	0.26447	T	0.156	0.48841	T	10	0.084962666	0.14295	T	0.009302	0.24413	T	0.167	0.42761	0.238	0.16912	0.68533214849	0.68264	0.4596673942638629	0.45884	0.415421845615	0.42198	0.307576537132	0.11541	T	0.297696	0.67029	T	-0.113121	0.34253	T	-0.303413	0.44364	T	0.0462930169204659	0.04837	T	0.687031	0.29593	T	0.09906737	0.23375	0.12378099	0.29843	0.09906737	0.23375	0.12378099	0.29842	-3.386	0.14869	T	.	.	0.067	0.02518	B	.	.	1.523248	0.19552	14.32	0.96868877629687955	0.31411	0.93982	0.59758	D	AEFBI	0.361407	0.45103	N	-0.578463666499297	0.19600	1.02706	-0.473514846211194	0.22887	1.245335	0.999728926861533	0.42220	0.554377	0.28877	0	0.563428	0.19063	0	0.573888	0.23631	0	0.567892	0.33627	0	.	.	4.83	-1.99	0.07047	1.032000	0.29786	-0.013000	0.13032	0.665000	0.62972	0.979000	0.35152	0.803000	0.26967	0.995000	0.73285	0.1212:0.22:0.1251:0.5337	1.902	0.03071	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	.	.	.	.	.	.	.	.	0.05	1939.43	142	chr2	68871273	.	T	G	1939.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.846;DP=457;ExcessHet=0;FS=1.367;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.66;ReadPosRankSum=-1.26;SOR=0.875	GT:AD:DP:GQ:PL	0/1:66,76:142:99:1951,0,1839	9	0	1	0
chr2	70921265	70921265	C	A	exonic	VAX2	.	nonsynonymous SNV	VAX2:NM_012476:exon2:c.C415A:p.L139M	.	10	1450	61	1	0	63	0.0212622	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.843	.	0.0018	0.00599042	0.0045	0.0006	0.0012	0.0001	0.0005	0.0023	0.0080	0.0223	0.0040168	621	154602	rs56075602	0.0034	0.0034	0.0028	0.0040	0.0218	0.0033	0.0033	0.0209	0.0206	0.0003	0.0007	0.0008	2.528e-05	0.0005	0.0073	0.0024	0.0038	0.0218	0.0019	0.0019	0.0015	0.0022	0.0199	0.0017	0.0016	0.0167	0.0155	0.0005	0	0.0010	0.0009	0	0.0008	0.0102	0.0020	0.0009	0.0199	0.0	0.91255	D	0.005	0.72224	D	1.0	0.90584	D	1.0	0.97372	D	0.000001	0.62929	D	0.000000	0.999999	0.58761	D	3.28	0.90206	M	-4.79	0.98155	D	-1.87	0.43717	N	0.835	0.83066	1.084	0.99011	D	0.963	0.98797	D	10	0.012894422	0.00275	T	.	.	.	0.843	0.95101	.	.	0.994496113608	0.99443	0.48373213927814934	0.48293	0.291920001814	0.31603	0.739147901535	0.72847	T	0.708417	0.91663	D	0.072921	0.61203	D	0.349555	0.90297	D	0.0772881118984215	0.09637	T	0.910909	0.68443	D	0.5141345	0.67921	0.46391258	0.68881	0.5141345	0.67922	0.46391258	0.68881	-8.698	0.65733	D	.	.	0.829	0.78671	P	.	.	3.820018	0.55149	23.6	0.99643519408860837	0.76819	0.93748	0.59079	D	AEFBI	0.639393	0.61746	D	0.61188462827725	0.73923	6.046364	0.513243209958108	0.68880	5.281514	0.999775004554386	0.42865	0.554377	0.28877	0	0.547309	0.14657	0	0.547309	0.15389	0	0.567892	0.33627	0	.	.	5.43	3.63	0.40741	3.127000	0.50178	2.656000	0.33848	-0.172000	0.11096	1.000000	0.71638	1.000000	0.68203	0.875000	0.41745	0.0:0.8331:0.0:0.1669	9.833	0.40121	723	0.55174	Homeobox domain|Homeobox domain, metazoa|Helix-turn-helix motif|Homeobox, conserved site|Homeobox domain|Homeobox domain|Homeobox domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.006067	0.000000	0.005435	0.002924	0.000000	0.008621	0.006211	0.015152	0.15	3677.45	97	chr2	70921265	.	C	A	3677.45	.	AC=3;AF=0.15;AN=20;BaseQRankSum=-1.035;DP=572;ExcessHet=0.7463;FS=2.122;InbreedingCoeff=-0.1765;MLEAC=3;MLEAF=0.15;MQ=60;MQRankSum=0;QD=13.42;ReadPosRankSum=-1.437;SOR=0.573	GT:AD:DP:GQ:PL	0/1:52,45:97:99:1079,0,1410	7	0	3	0
chr2	73081095	73081095	-	TCC	exonic	RAB11FIP5	.	nonframeshift insertion	RAB11FIP5:NM_001371272:exon4:c.2136_2137insGGA:p.G712_R713insG	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0003842	10	26028	rs551578436	0.0032	0.0026	0.0031	0.0032	0.0179	0.0031	0.0031	0.0141	0.0127	0.0037	0.0026	0.0020	0.0042	0.0013	0.0179	0.0029	0.0041	0.0114	0.0033	0.0032	0.0034	0.0031	0.0087	0.0030	0.0029	0.0066	0.0058	0.0035	0	0.0026	0.0023	0.0040	0.0017	0.0069	0.0031	0.0039	0.0087	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	716.95	3	chr2	73081095	.	T	TTCC	716.95	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.967;DP=96;ExcessHet=0.2065;FS=0;InbreedingCoeff=0.1809;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=26.55;ReadPosRankSum=0.605;SOR=1.022	GT:AD:DP:GQ:PL	0/1:1,2:3:35:78,0,35	9	0	1	0
chr2	74502754	74502754	G	T	exonic	LBX2	.	nonsynonymous SNV	LBX2:NM_001009812:exon1:c.C106A:p.R36S	.	421	1093	8	0	0	8	0.00364631	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.090	0.0455242050396	0.0006	0.00159744	0.0014	0.0002	0.0003	0.0001	0	0.0005	0.0022	0.0078	0.0011772	182	154602	rs138587545	0.0008	0.0008	0.0006	0.0010	0.0079	0.0008	0.0007	0.0074	0.0073	2.987e-05	0.0003	0.0030	2.519e-05	0	0.0021	0.0003	0.0009	0.0079	0.0006	0.0006	0.0005	0.0007	0.0070	0.0005	0.0004	0.0052	0.0045	0.0001	0	0.0003	0.0037	0.0002	0	0	0.0004	0.0005	0.0070	0.062	0.36912	T	0.993	0.02348	T	0.065	0.23521	B	0.019	0.18783	B	.	.	.	.	1	0.18878	N	.	.	.	-2.7	0.90509	D	0.78	0.01921	N	0.073	0.04668	-0.6967	0.60596	T	0.427	0.77048	T	8	0.0036043227	0.00065	T	0.045524	0.62022	D	0.090	0.26093	.	.	0.278043722374	0.27408	.	.	0.550974970066	0.51951	0.286294162273	0.08385	T	.	.	.	-0.470964	0.00838	T	-0.444156	0.28344	T	0.00920513070330675	0.00116	T	0.355164	0.08047	T	.	.	.	.	.	.	.	.	-3.483	0.16195	T	.	.	0.105	0.19073	B	.	.	0.682265	0.10509	7.221	0.68816365856188522	0.08776	0.58498	0.30658	D	AEFDBHCI	0.114301	0.22519	N	-0.959890525356503	0.09471	0.4484349	-1.02790645413203	0.09174	0.45495	0.999999437972909	0.74766	0.56387	0.32371	0	0.552344	0.17405	0	0.503968	0.08637	0	0.249971	0.05119	0	.	.	2.88	1.97	0.25278	1.512000	0.35420	-0.080000	0.12189	0.606000	0.46413	0.012000	0.18695	0.000000	0.08366	0.004000	0.06068	0.0:0.2583:0.7417:0.0	7.812	0.28399	364	0.84707	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001012	0.005051	0.001359	0.000000	0.000000	0.000000	0.003049	0.000000	0.05	2626.43	214	chr2	74502754	.	G	T	2626.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.488;DP=531;ExcessHet=0;FS=0.5;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.27;ReadPosRankSum=-1.071;SOR=0.733	GT:AD:DP:GQ:PL	0/1:107,107:214:99:2638,0,2524	9	0	1	0
chr2	85343737	85343737	C	T	exonic	RETSAT	.	nonsynonymous SNV	RETSAT:NM_017750:exon10:c.G1595A:p.G532D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.575	0.113573146805	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	3.425	0.91960	M	-0.27	0.67367	T	-6.34	0.90937	D	0.982	0.99181	-0.0163	0.81916	T	0.456	0.78808	T	10	0.98149747	0.98178	D	0.113573	0.79213	D	0.795	0.93266	0.787	0.90993	0.745503425957	0.74321	0.9752254820984402	0.97512	0.474271358223	0.46618	0.597439885139	0.52543	T	0.510592	0.82689	D	0.385645	0.89068	D	0.316176	0.88930	D	0.996540307998657	0.89565	D	0.846115	0.52582	T	0.86968625	0.88836	0.80434054	0.88543	0.86968625	0.88838	0.80434054	0.88543	-13.969	0.92955	D	.	.	0.942	0.86088	P	.	.	4.864009	0.79626	27.1	0.99830548068296143	0.91198	0.95765	0.66059	D	AEFDGBCI	0.936151	0.93206	D	0.389701144181857	0.60862	4.280135	0.353343418086477	0.58710	4.043135	0.999999999968406	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.643519	0.47002	0	0.714379	0.83352	0	.	.	5.02	5.02	0.66742	7.628000	0.82379	7.584000	0.61047	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.962000	0.52141	0.0:1.0:0.0:0.0	16.187	0.81775	888	0.27761	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	819.43	58	chr2	85343737	.	C	T	819.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.088;DP=378;ExcessHet=0;FS=2.225;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.13;ReadPosRankSum=-0.743;SOR=0.425	GT:AD:DP:GQ:PL	0/1:26,32:58:99:831,0,666	9	0	1	0
chr2	94876587	94876587	C	A	exonic	TEKT4	.	nonsynonymous SNV	TEKT4:NM_001286559:exon6:c.C580A:p.L194I,TEKT4:NM_144705:exon6:c.C1126A:p.L376I	.	432	641	448	0	1	449	0.25896	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	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	2261.95	255	chr2	94876587	.	C	A	2261.95	.	AC=7;AF=0.35;AN=20;BaseQRankSum=0.331;DP=2020;ExcessHet=7.0302;FS=4.884;InbreedingCoeff=-0.5385;MLEAC=7;MLEAF=0.35;MQ=58.43;MQRankSum=-15.6;QD=1.32;ReadPosRankSum=-3.168;SOR=1.432	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:218,37:255:99:0|1:94876587_C_A:897,0,8969:94876587	3	0	7	0
chr2	94876599	94876599	C	T	exonic	TEKT4	.	stopgain	TEKT4:NM_001286559:exon6:c.C592T:p.R198X,TEKT4:NM_144705:exon6:c.C1138T:p.R380X	.	433	945	144	0	0	144	0.0707965	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1	591.14	300	chr2	94876599	.	C	T	591.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=1.31;DP=2159;ExcessHet=0.2348;FS=6.418;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=57.65;MQRankSum=-14.44;QD=1.02;ReadPosRankSum=-0.377;SOR=1.434	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:259,41:300:99:.:.:506,0,10520:.	8	0	2	0
chr2	94876618	94876618	C	G	exonic	TEKT4	.	nonsynonymous SNV	TEKT4:NM_001286559:exon6:c.C611G:p.A204G,TEKT4:NM_144705:exon6:c.C1157G:p.A386G	.	432	224	865	0	1	866	0.658797	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.223	0.00662812679854	.	.	.	.	.	.	.	.	.	.	0.0002781	43	154602	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	0.55530	D	0.026	0.55759	D	0.986	0.61523	D	0.919	0.65474	D	0.000066	0.52346	D	0.125962	0.999996	0.58761	D	3.695	0.94570	H	3.93	0.03435	T	-2.62	0.56301	D	0.22	0.24634	-1.1093	0.03130	T	0.045	0.19478	T	10	0.34525645	0.51502	T	0.006628	0.17501	T	0.223	0.52023	0.627	0.76254	0.325533332567	0.32158	0.46843450301837664	0.46762	0.206080854031	0.23033	0.606577515602	0.53832	T	0.278563	0.65122	T	-0.0817015	0.39437	T	-0.355135	0.38615	T	0.993828952312469	0.84790	D	0.723528	0.33695	T	0.19832417	0.41730	0.4733884	0.69475	0.19832417	0.41730	0.4733884	0.69476	-7.747	0.59334	D	.	.	0.123	0.25656	B	.	.	3.340079	0.46023	22.2	0.99465032145053101	0.65996	0.46731	0.27825	N	AEFDGBI	0.300572	0.40933	N	0.291003033652373	0.55691	3.733242	0.0724350553839575	0.43168	2.624199	0.878548229655452	0.25568	0.517182	0.21443	0	0.588066	0.40923	0	0.478664	0.07449	1	0.604944	0.38103	0	.	.	2.43	2.43	0.28797	3.467000	0.52842	4.098000	0.41847	0.302000	0.18967	0.053000	0.21524	0.999000	0.35428	0.607000	0.31564	0.0:1.0:0.0:0.0	10.548	0.44261	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4	12818.0	371	chr2	94876618	.	C	G	12818.0	.	AC=8;AF=0.4;AN=20;BaseQRankSum=-0.592;DP=2902;ExcessHet=10.3881;FS=1.546;InbreedingCoeff=-0.6667;MLEAC=8;MLEAF=0.4;MQ=57.49;MQRankSum=-16.9;QD=4.98;ReadPosRankSum=-3.186;SOR=0.904	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:273,98:371:99:0|1:94876587_C_A:3293,0,11168:94876587	2	0	8	0
chr2	94876632	94876632	C	T	exonic	TEKT4	.	nonsynonymous SNV	TEKT4:NM_001286559:exon6:c.C625T:p.R209C,TEKT4:NM_144705:exon6:c.C1171T:p.R391C	.	431	192	898	1	0	900	0.700935	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.180	0.00282003103799	.	.	0.0020	0.0044	0.0012	0.0058	0	0.0016	0.0025	0.0012	0.00073	19	26028	rs72817671	5.478e-06	9.577e-06	5.451e-06	5.507e-06	7.196e-06	2.36e-06	1.7e-06	3.1e-06	2.24e-06	0	0	0	0	0	0	7.196e-06	0	0	2.629e-05	2.627e-05	1.285e-05	4.036e-05	0.0002	8.14e-06	5.14e-06	4.88e-06	1.83e-06	2.414e-05	0	0	0	0	0	0	2.94e-05	0	0.0002	0.078	0.33923	T	0.094	0.39645	T	0.048	0.22112	B	0.017	0.18140	B	0.104906	0.19681	N	0.502966	0.998961	0.45775	D	2.51	0.73131	M	4.19	0.02716	T	-4.17	0.75456	D	0.327	0.36779	-0.9567	0.39789	T	0.009	0.03315	T	10	0.010076523	0.00226	T	0.00282	0.05898	T	0.180	0.45073	.	.	0.280181792013	0.27631	0.3283832477789456	0.32751	0.0418521914883	0.04503	0.566292226315	0.48154	T	0.161975	0.50645	T	-0.0952065	0.37216	T	-0.374534	0.36360	T	0.0299758459612643	0.01985	T	0.763824	0.39073	T	0.11296644	0.26684	0.099358894	0.23720	0.11296644	0.26684	0.099358894	0.23719	-7.259	0.55903	T	.	.	0.087	0.11414	B	.	.	2.884469	0.38179	20.7	0.9739629417086707	0.33750	0.03769	0.09084	N	AEFDGBI	0.024782	0.01590	N	-0.521150392773251	0.21396	1.135229	-0.512733045882346	0.21807	1.181449	3.92921537291663E-4	0.06820	0.517182	0.21443	0	0.588066	0.40923	0	0.478664	0.07449	1	0.604944	0.38103	0	.	.	2.43	1.05	0.19280	0.158000	0.16239	-0.300000	0.10122	0.302000	0.18967	0.046000	0.21249	0.000000	0.08366	0.706000	0.34326	0.5496:0.4504:0.0:0.0	6.095	0.19238	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.015609	0.035354	0.004076	0.005848	0.000000	0.008621	0.033537	0.018939	0.45	17750.0	414	chr2	94876632	.	C	T	17750.0	.	AC=9;AF=0.45;AN=20;BaseQRankSum=-3.235;DP=3296;ExcessHet=15.1594;FS=0;InbreedingCoeff=-0.8182;MLEAC=9;MLEAF=0.45;MQ=57.17;MQRankSum=-17.88;QD=5.56;ReadPosRankSum=-1.61;SOR=0.672	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:294,120:414:99:0|1:94876587_C_A:4102,0,11913:94876587	1	0	9	0
chr2	94876671	94876671	A	G	exonic	TEKT4	.	nonsynonymous SNV	TEKT4:NM_001286559:exon6:c.A664G:p.I222V,TEKT4:NM_144705:exon6:c.A1210G:p.I404V	.	425	183	912	2	0	916	0.714509	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.186	0.00380674609401	.	.	.	.	.	.	.	.	.	.	0.000461	12	26028	rs142133592	3.422e-06	3.42e-06	4.086e-06	2.751e-06	3.597e-06	1e-06	7.3e-07	8.4e-07	5.7e-07	0	0	0	0	0	0	3.597e-06	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	0.53172	D	0.044	0.49663	D	0.967	0.56408	D	0.77	0.56828	P	0.000003	0.62929	D	0.059094	0.999993	0.58761	D	2.465	0.71551	M	3.8	0.03781	T	-0.93	0.24898	N	0.355	0.39659	-1.1543	0.00903	T	0.035	0.15030	T	10	0.2894683	0.46528	T	0.003807	0.08899	T	0.186	0.46104	.	.	0.0716867268079	0.06686	0.38576410498893454	0.38491	0.041304716601	0.04434	0.519737362862	0.41590	T	0.070106	0.33877	T	-0.102007	0.36092	T	-0.384302	0.35219	T	0.773092746734619	0.44626	D	0.518148	0.16784	T	0.11624111	0.27419	0.19920714	0.43791	0.11624111	0.27418	0.19920714	0.43790	-6.086	0.46993	T	.	.	0.080	0.07650	B	.	.	2.197892	0.28028	17.66	0.99758744490040718	0.84851	0.77619	0.38185	D	AEFDGBI	0.245424	0.36636	N	0.178097147237031	0.50149	3.207675	0.0117110839863197	0.40257	2.399706	0.274437957628434	0.18925	0.646311	0.45356	0	0.626922	0.53725	0	0.478664	0.07449	1	0.699875	0.68795	0	.	.	2.43	2.43	0.28797	2.475000	0.44821	2.894000	0.35409	0.373000	0.20310	0.967000	0.34061	1.000000	0.68203	0.500000	0.29017	1.0:0.0:0.0:0.0	8.354	0.31480	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.45	22415.0	462	chr2	94876671	.	A	G	22415.0	.	AC=9;AF=0.45;AN=20;BaseQRankSum=-5.483;DP=3731;ExcessHet=15.1594;FS=0.656;InbreedingCoeff=-0.8182;MLEAC=9;MLEAF=0.45;MQ=56.88;MQRankSum=-18.99;QD=6.13;ReadPosRankSum=4.6;SOR=0.617	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:312,150:462:99:0|1:94876671_A_G:5287,0,12337:94876671	1	0	9	0
chr2	94876674	94876674	G	A	exonic	TEKT4	.	nonsynonymous SNV	TEKT4:NM_001286559:exon6:c.G667A:p.A223T,TEKT4:NM_144705:exon6:c.G1213A:p.A405T	.	426	179	915	2	0	919	0.719655	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.156	.	.	0.0115815	0.0037	0.0032	0.0047	0.0156	0.0008	0.0021	0.0047	0.0045	0.0058783	153	26028	rs75603622	0	2.052e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.101	0.30375	T	0.267	0.22561	T	0.003	0.11197	B	0.013	0.16460	B	0.039834	0.24126	N	0.433987	0.997095	0.22793	N	3.49	0.92661	M	4.15	0.02815	T	-1.68	0.40082	N	0.141	0.14054	-0.9396	0.42679	T	0.013	0.04985	T	10	0.0041491687	0.00082	T	.	.	.	0.156	0.40720	.	.	0.117506650769	0.11410	0.2704892680538193	0.26961	0.0299475133996	0.03088	0.393358677626	0.24142	T	0.056124	0.30199	T	-0.161562	0.26520	T	-0.469849	0.25532	T	0.0468978844343634	0.04948	T	0.689731	0.29897	T	0.042698704	0.06523	0.104346365	0.25059	0.042698704	0.06523	0.104346365	0.25058	-4.749	0.33991	T	.	.	0.081	0.08129	B	.	.	1.062693	0.14447	11.02	0.91920144370954304	0.21243	0.00957	0.03676	N	AEFDGBI	0.022506	0.01133	N	-1.17567910300973	0.05369	0.2445992	-1.31751710428587	0.04204	0.1977864	0.0017749666691999	0.08872	0.646311	0.45356	0	0.626922	0.53725	0	0.478664	0.07449	1	0.699875	0.68795	0	.	.	2.43	-2.21	0.06581	0.036000	0.13706	2.580000	0.33410	-0.673000	0.04287	0.001000	0.13787	0.571000	0.25572	0.394000	0.26647	0.1368:0.0:0.6998:0.1633	6.926	0.23596	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.012588	0.025253	0.002717	0.011696	0.000000	0.000000	0.021341	0.018939	0.45	22825.0	467	chr2	94876674	.	G	A	22825.0	.	AC=9;AF=0.45;AN=20;BaseQRankSum=-5.542;DP=3741;ExcessHet=15.1594;FS=0.654;InbreedingCoeff=-0.8182;MLEAC=9;MLEAF=0.45;MQ=56.87;MQRankSum=-19.21;QD=6.22;ReadPosRankSum=4.81;SOR=0.626	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:315,152:467:99:0|1:94876671_A_G:5322,0,12411:94876671	1	0	9	0
chr2	94876731	94876731	C	T	exonic	TEKT4	.	nonsynonymous SNV	TEKT4:NM_001286559:exon6:c.C724T:p.R242C,TEKT4:NM_144705:exon6:c.C1270T:p.R424C	.	422	173	925	2	0	929	0.728627	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.132	0.0041459355799	.	0.000199681	0.0026	0.0055	0.0008	0.0029	0.0009	0.0031	0.0024	0.0009	0.0016136	42	26028	rs1052809	2.266e-05	4.721e-05	2.05e-05	2.484e-05	0.0002	1.616e-05	1.421e-05	7.131e-05	5.487e-05	5.977e-05	6.711e-05	0	0	0	0.0002	9.902e-06	8.287e-05	0.0001	6.572e-06	6.567e-06	0	1.345e-05	6.545e-05	0	0	.	.	0	0	6.545e-05	0	0	0	0	0	0	0	0.103	0.30097	T	0.066	0.44501	T	0.572	0.38625	P	0.148	0.34065	B	0.002019	0.37457	N	0.261531	0.999997	0.58761	D	1.775	0.45938	L	4.11	0.02916	T	-4.13	0.75139	D	0.316	0.35620	-0.8786	0.49872	T	0.010	0.03856	T	10	0.01365149	0.00289	T	0.004146	0.09931	T	0.132	0.35948	.	.	0.491455083755	0.48780	0.5777951626377072	0.57708	0.0586537782296	0.06507	0.432330518961	0.29528	T	0.138567	0.47212	T	-0.133279	0.30966	T	-0.429223	0.30023	T	0.0535928154404934	0.06120	T	0.627737	0.24333	T	0.19040447	0.40625	0.158895	0.37084	0.19040447	0.40624	0.158895	0.37084	-4.535	0.31344	T	.	.	0.086	0.10883	B	.	.	2.921119	0.38776	20.8	0.98416532006618407	0.41234	0.09068	0.14897	N	AEFDGBI	0.064399	0.12503	N	-0.384009387342546	0.26038	1.418045	-0.456280458516489	0.23371	1.274154	0.0109668901558148	0.12109	0.646311	0.45356	0	0.844039	0.99811	0	0.478664	0.07449	1	0.604944	0.38103	0	.	.	2.43	2.43	0.28797	1.541000	0.35732	0.966000	0.23025	0.302000	0.18967	0.091000	0.22601	0.000000	0.08366	0.392000	0.26603	0.0:1.0:0.0:0.0	10.548	0.44261	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.045317	0.136364	0.005435	0.035088	0.000000	0.043103	0.076220	0.030303	0.4	9474.98	407	chr2	94876731	.	C	T	9474.98	.	AC=8;AF=0.4;AN=20;BaseQRankSum=-2.787;DP=3262;ExcessHet=10.3881;FS=2.421;InbreedingCoeff=-0.6667;MLEAC=8;MLEAF=0.4;MQ=57.44;MQRankSum=-19.06;QD=3.04;ReadPosRankSum=-0.667;SOR=0.952	GT:AD:DP:GQ:PL	0/1:298,109:407:99:3311,0,7466	2	0	8	0
chr2	94876737	94876737	C	A	exonic	TEKT4	.	nonsynonymous SNV	TEKT4:NM_001286559:exon6:c.C730A:p.P244T,TEKT4:NM_144705:exon6:c.C1276A:p.P426T	.	420	623	478	1	0	480	0.2781	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.305	0.00856323149497	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	.	0	2.052e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.49	0.72568	M	4.16	0.02791	T	-6.15	0.90178	D	0.449	0.48689	-1.1193	0.02376	T	0.028	0.11926	T	10	0.86077964	0.85296	D	0.008563	0.22631	T	0.305	0.62620	0.82	0.93328	0.439763647824	0.43599	0.7402352279972402	0.73968	0.238822044954	0.26437	0.431803226471	0.29455	T	0.211342	0.57208	T	-0.00288391	0.51258	T	-0.241919	0.50610	T	0.997360169887543	0.91383	D	0.868613	0.57103	D	0.468639	0.65206	0.43668678	0.67113	0.468639	0.65207	0.43668678	0.67113	-9.492	0.70809	D	.	.	0.247	0.48188	B	.	.	3.384766	0.46838	22.4	0.99756532367682871	0.84694	0.76429	0.37483	D	AEFDGBI	0.183688	0.31101	N	0.284556175349996	0.55366	3.700636	0.149238450167121	0.47101	2.945506	0.878548229655452	0.25568	0.646311	0.45356	0	0.844039	0.99811	0	0.478664	0.07449	1	0.699875	0.68795	0	.	.	2.43	2.43	0.28797	3.367000	0.52075	5.126000	0.47622	0.302000	0.18967	1.000000	0.71638	1.000000	0.68203	0.409000	0.26983	0.0:1.0:0.0:0.0	10.548	0.44261	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.25	3218.11	408	chr2	94876737	.	C	A	3218.11	.	AC=5;AF=0.25;AN=20;BaseQRankSum=-2.43;DP=2132;ExcessHet=2.8389;FS=1.922;InbreedingCoeff=-0.3316;MLEAC=5;MLEAF=0.25;MQ=57.08;MQRankSum=-12.5;QD=1.67;ReadPosRankSum=-1.101;SOR=0.879	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:321,87:408:99:0|1:94876737_C_A:2660,0,13104:94876737	5	0	5	0
chr2	94876740	94876740	A	C	exonic	TEKT4	.	nonsynonymous SNV	TEKT4:NM_001286559:exon6:c.A733C:p.T245P,TEKT4:NM_144705:exon6:c.A1279C:p.T427P	.	420	617	484	1	0	486	0.282558	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.095	0.00171498663639	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.015	0.52492	D	0.114	0.36765	T	0.125	0.26866	B	0.085	0.29395	B	0.131368	0.18625	N	0.557409	0.999999	0.08975	N	1.955	0.52871	M	4.2	0.02689	T	-3.07	0.63207	D	0.235	0.26475	-0.9960	0.31028	T	0.012	0.04558	T	10	0.1880475	0.34342	T	0.001715	0.02856	T	0.095	0.27398	0.692	0.82938	0.242825505644	0.23883	0.760572030042999	0.76005	0.0377657102004	0.04010	0.42577329278	0.28630	T	0.133664	0.46448	T	-0.179838	0.23760	T	-0.496102	0.22753	T	0.267470479011536	0.23639	T	0.608739	0.23025	T	0.12824208	0.29987	0.113306135	0.27344	0.12824208	0.29987	0.113306135	0.27344	-6.544	0.50625	T	.	.	0.070	0.03552	B	.	.	1.347397	0.17547	13.23	0.9830799806719418	0.40116	0.00645	0.02815	N	AEFDGBI	0.062337	0.11976	N	-0.575656789009934	0.19685	1.032239	-0.641925779952209	0.18420	0.9839579	4.74237286387209E-4	0.07095	0.646311	0.45356	0	0.844039	0.99811	0	0.478664	0.07449	1	0.699875	0.68795	0	.	.	2.43	1.2	0.20181	-0.628000	0.05611	0.633000	0.20247	0.373000	0.20310	0.000000	0.06391	0.002000	0.18203	0.392000	0.26603	0.5413:0.283:0.1757:0.0	2.624	0.04627	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.25	3284.14	401	chr2	94876740	.	A	C	3284.14	.	AC=5;AF=0.25;AN=20;BaseQRankSum=-2.303;DP=2122;ExcessHet=2.8389;FS=1.912;InbreedingCoeff=-0.3332;MLEAC=5;MLEAF=0.25;MQ=57.08;MQRankSum=-12.57;QD=1.72;ReadPosRankSum=-1.808;SOR=0.869	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:314,87:401:99:0|1:94876737_C_A:2681,0,12891:94876737	5	0	5	0
chr2	95855390	95855390	T	C	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon84:c.A5969G:p.N1990S	.	445	446	628	3	0	634	0.415465	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.055	.	.	.	0.4725	0.4791	0.4803	0.4672	0.4880	0.4733	0.4644	0.4563	0.0898263	2338	26028	rs5005871	6.166e-06	8.414e-05	8.18e-06	4.132e-06	1.162e-05	2.9e-06	2.1e-06	.	.	0	0	0	0	0.0002	0	0	0	1.162e-05	8.21e-05	0.0014	8.013e-05	8.417e-05	0.0001	4.669e-05	3.648e-05	4.891e-05	3.155e-05	0.0001	0	0.0001	0	0	0.0003	0	3.041e-05	0	0	0.015	0.52492	D	0.034	0.52727	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	2.56	0.13673	T	-1.08	0.28084	N	0.033	0.00882	-0.9453	0.41764	T	0.020	0.08266	T	7	0.002589792	0.00039	T	.	.	.	0.055	0.15663	.	.	.	.	0.012446412429317067	0.01203	.	.	.	.	.	0.01031	0.09320	T	-0.355653	0.04382	T	-0.748648	0.03539	T	0.0108537478151246	0.00155	T	0.411359	0.10665	T	0.03944852	0.05450	0.041137557	0.04607	0.03944852	0.05449	0.041137557	0.04607	-4.418	0.29800	T	.	.	0.294	0.52491	B	.	.	0.798647	0.11694	8.273	0.5612225942636786	0.05485	0.02449	0.06892	N	AEFI	0.055298	0.10127	N	-1.21497369849486	0.04782	0.2165626	-1.43546346583335	0.02904	0.1344849	0.00116623651718095	0.08293	0.656854	0.48797	0	0.653731	0.59785	0	0.565031	0.19037	0	0.699908	0.69081	0	.	.	2.64	-5.28	0.02543	0.547000	0.23007	-2.563000	0.03605	-0.638000	0.04459	0.451000	0.26573	0.000000	0.08366	0.008000	0.08271	0.3266:0.1273:0.3289:0.2173	0.771	0.00959	256	0.89942	CCDC144C-like, coiled-coil domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	10728.0	198	chr2	95855390	.	T	C	10728.0	.	AC=10;AF=0.5;AN=20;BaseQRankSum=3.24;DP=2185;ExcessHet=22.563;FS=21.098;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=55.81;MQRankSum=-10.64;QD=5.08;ReadPosRankSum=-6.398;SOR=2.057	GT:AD:DP:GQ:PL	0/1:159,39:198:99:668,0,4802	0	0	10	0
chr2	95855549	95855549	T	C	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon84:c.A5810G:p.N1937S	.	442	278	792	10	0	812	0.593567	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.027	.	.	.	0.4955	0.4792	0.5	0.4994	0.4998	0.4950	0.4987	0.4997	0.0874443	2276	26028	rs5005869	0	2.736e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	6.573e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.296	0.14694	T	0.507	0.10930	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	2.62	0.12988	T	-0.23	0.10656	N	0.021	0.00339	-0.9299	0.44153	T	0.011	0.04088	T	7	0.0016410053	0.00020	T	.	.	.	0.027	0.05988	.	.	.	.	0.0144060030913769	0.01397	.	.	.	.	.	0.002	0.01223	T	-0.411715	0.01936	T	-0.829176	0.01277	T	0.00502627076001595	0.00054	T	0.545645	0.18668	T	0.016608926	0.00209	0.02213417	0.00245	0.016608926	0.00209	0.02213417	0.00245	-4.21	0.26896	T	.	.	0.100	0.17060	B	.	.	-0.269215	0.02755	0.369	0.23312518342213173	0.00979	0.00866	0.03436	N	AEFI	0.023348	0.01289	N	-1.09098549269488	0.06808	0.3144812	-1.2104876692623	0.05741	0.2743807	9.86009276359309E-6	0.01202	0.706548	0.73137	0	0.724815	0.89359	0	0.565031	0.19037	0	0.636168	0.56350	0	.	.	2.11	-0.838	0.10218	0.492000	0.22144	-6.933000	0.01270	0.312000	0.19173	0.073000	0.22155	0.000000	0.08366	0.002000	0.04165	0.0:0.3513:0.0:0.6487	6.069	0.19105	256	0.89942	CCDC144C-like, coiled-coil domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	29732.0	323	chr2	95855549	.	T	C	29732.0	.	AC=10;AF=0.5;AN=20;BaseQRankSum=-2.71;DP=3043;ExcessHet=22.563;FS=10.71;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=44.38;MQRankSum=-11.67;QD=10.06;ReadPosRankSum=0.065;SOR=1.292	GT:AD:DP:GQ:PL	0/1:199,124:323:99:2558,0,5760	0	0	10	0
chr2	95855576	95855576	A	G	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon84:c.T5783C:p.I1928T	.	453	483	584	2	0	588	0.378378	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.016	.	.	.	0.0351	0.0714	0.0215	0.0369	0.0035	0.0411	0.0420	0.0134	0.0472952	1231	26028	rs5005868	0.0003	0.0003	0.0003	0.0003	0.0004	0.0003	0.0002	0.0003	0.0003	8.988e-05	0	0	0	0	0	0.0004	0.0001	0	0.0001	0.0001	0.0002	8.079e-05	0.0002	8.674e-05	7.264e-05	0.0001	9.902e-05	0.0001	0	0	0	0	0	0	0.0002	0	0	0.061	0.37118	T	0.076	0.42614	T	.	.	.	.	.	.	.	.	.	.	0.999854	0.20048	N	.	.	.	2.41	0.15492	T	-2.88	0.60507	D	0.111	0.09772	-1.0255	0.21919	T	0.039	0.16634	T	7	0.0018533468	0.00025	T	.	.	.	0.016	0.02506	.	.	.	.	0.019306205368593718	0.01884	.	.	.	.	.	0.00751	0.06912	T	-0.24663	0.14515	T	-0.592043	0.13489	T	0.0121704833066968	0.00195	T	0.355564	0.08068	T	0.13378952	0.31107	0.17544822	0.40011	0.13378952	0.31107	0.17544822	0.40010	-5.456	0.41455	T	.	.	0.137	0.29914	B	.	.	2.390189	0.30693	18.52	0.99376893328488414	0.61715	0.31313	0.24306	N	AEFI	0.047864	0.08107	N	-0.41657885139222	0.24888	1.347055	-0.520845466279587	0.21587	1.168515	1.17212494177188E-4	0.05269	0.706548	0.73137	0	0.724815	0.89359	0	0.565031	0.19037	0	0.636168	0.56350	0	.	.	2.11	2.11	0.26299	1.107000	0.30724	-0.057000	0.12472	0.351000	0.19951	0.797000	0.29682	0.000000	0.08366	0.192000	0.21661	1.0:0.0:0.0:0.0	8.115	0.30096	256	0.89942	CCDC144C-like, coiled-coil domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	23128.0	277	chr2	95855576	.	A	G	23128.0	.	AC=10;AF=0.5;AN=20;BaseQRankSum=-2.388;DP=2563;ExcessHet=22.563;FS=25.938;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=46.02;MQRankSum=-11.14;QD=9.29;ReadPosRankSum=-3.416;SOR=1.932	GT:AD:DP:GQ:PL	0/1:199,78:277:99:2148,0,5793	0	0	10	0
chr2	95855586	95855586	T	C	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon84:c.A5773G:p.M1925V	.	447	884	189	2	0	193	0.0984192	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.035	0.000861707961223	.	.	0.0008	0.0001	0.0009	0.0002	0.0002	0.0014	0	0.0001	3.84e-05	1	26028	rs201192250	0	6.84e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.149	0.24758	T	0.137	0.33894	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	2.59	0.13317	T	-2.2	0.49519	N	0.124	0.11626	-0.9610	0.38993	T	0.019	0.07800	T	7	0.011997491	0.00260	T	8.62E-4	0.00755	T	0.035	0.08770	.	.	0.0806252709748	0.07271	0.015437605054057783	0.01499	.	.	.	.	.	0.004928	0.04354	T	-0.342361	0.05226	T	-0.729554	0.04347	T	0.0291781713714631	0.01865	T	0.515548	0.16619	T	0.11939599	0.28113	0.13833767	0.33041	0.11939599	0.28113	0.13833767	0.33040	-3.711	0.19481	T	.	.	0.227	0.45954	B	.	.	0.618436	0.09867	6.630	0.39056500088029883	0.02672	0.17497	0.19862	N	AEFI	0.042474	0.06596	N	-0.697976344310311	0.16079	0.8160669	-0.828039099870389	0.13816	0.7187932	1.99158050687805E-5	0.02871	0.706548	0.73137	0	0.724815	0.89359	0	0.565031	0.19037	0	0.636168	0.56350	0	.	.	2.11	-2.48	0.06052	0.550000	0.23052	-0.005000	0.13145	0.312000	0.19173	0.994000	0.38300	0.000000	0.08366	0.117000	0.19042	0.3728:0.0:0.19:0.4372	3.442	0.07037	256	0.89942	CCDC144C-like, coiled-coil domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.4	2532.98	278	chr2	95855586	.	T	C	2532.98	.	AC=8;AF=0.4;AN=20;BaseQRankSum=0.765;DP=2381;ExcessHet=10.3881;FS=20.257;InbreedingCoeff=-0.6667;MLEAC=8;MLEAF=0.4;MQ=47.03;MQRankSum=-5.391;QD=1.31;ReadPosRankSum=-1.294;SOR=2.4	GT:AD:DP:GQ:PL	0/1:233,45:278:99:680,0,9296	2	0	8	0
chr2	95855588	95855588	T	C	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon84:c.A5771G:p.Q1924R	.	449	591	480	2	0	484	0.290516	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.035	.	.	.	0.0306	0.0658	0.0188	0.0337	0.0028	0.0359	0.0324	0.0111	0.0379591	988	26028	rs5005867	0	6.84e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.17	0.22833	T	0.311	0.19660	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	2.4	0.15608	T	-2.4	0.52776	N	0.054	0.02559	-0.9776	0.35548	T	0.023	0.09968	T	7	0.004524857	0.00093	T	.	.	.	0.035	0.08770	.	.	.	.	0.014319341971499302	0.01388	.	.	.	.	.	0.034191	0.23222	T	-0.342862	0.05192	T	-0.730274	0.04316	T	0.0218009842485075	0.00887	T	0.374863	0.08927	T	0.052712794	0.09870	0.11261669	0.27173	0.052712794	0.09870	0.11261669	0.27172	-5.986	0.46163	T	.	.	0.14	0.30686	B	.	.	1.453026	0.18743	13.90	0.88078949201552847	0.17700	0.32438	0.24585	N	AEFI	0.045481	0.07443	N	-0.542064366665841	0.20732	1.095167	-0.636773118221108	0.18551	0.9915041	9.62839158373236E-6	0.01202	0.706548	0.73137	0	0.724815	0.89359	0	0.565031	0.19037	0	0.636168	0.56350	0	.	.	2.11	0.82	0.17932	2.106000	0.41459	0.119000	0.14890	-0.667000	0.04321	1.000000	0.71638	0.000000	0.08366	0.084000	0.17470	0.0:0.1714:0.2923:0.5363	2.541	0.04438	256	0.89942	CCDC144C-like, coiled-coil domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	16467.0	271	chr2	95855588	.	T	C	16467.0	.	AC=10;AF=0.5;AN=20;BaseQRankSum=-1.817;DP=2387;ExcessHet=22.563;FS=33.426;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=47.27;MQRankSum=-10.54;QD=7.16;ReadPosRankSum=-3.626;SOR=2.329	GT:AD:DP:GQ:PL	0/1:212,59:271:99:1592,0,5978	0	0	10	0
chr2	95859969	95859969	-	T	exonic	ANKRD36C	.	frameshift insertion	ANKRD36C:NM_001310154:exon82:c.4885_4886insA:p.L1629Hfs*4	.	952	362	155	53	0	261	0.264975	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4228	0.4631	0.4656	0.4778	0.3159	0.4147	0.4099	0.4349	0.0494083	1286	26028	rs111957693	5.008e-06	5.814e-05	5.648e-06	4.351e-06	.	2.08e-06	1.34e-06	.	.	0	0	0	0	0.0001	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	10909.0	176	chr2	95859969	.	A	AT	10909.0	.	AC=10;AF=0.5;AN=20;BaseQRankSum=-0.932;DP=1221;ExcessHet=22.563;FS=3.703;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=58.94;MQRankSum=-7.848;QD=9.05;ReadPosRankSum=0.563;SOR=0.662	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:122,54:176:99:0|1:95859969_A_AT:1899,0,4899:95859969	0	0	10	0
chr2	95859970	95859970	G	T	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon82:c.C4885A:p.L1629M	.	957	355	157	53	0	263	0.270298	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.028	.	.	.	0.4545	0.4802	0.4743	0.4840	0.3659	0.4484	0.4515	0.4666	0.0009221	24	26028	rs77057279	9.318e-06	0.0001	7.073e-06	1.162e-05	.	5.2e-06	4.01e-06	.	.	0	0	0	0	0.0003	0	0	0	0	0	2.631e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.911	0.02361	T	0.243	0.24193	T	0.053	0.22573	B	0.021	0.19346	B	.	.	.	.	0.994063	0.23594	N	.	.	.	2.42	0.15376	T	1.44	0.00794	N	0.079	0.05414	-0.9807	0.34840	T	0.008	0.02801	T	9	0.0015536547	0.00018	T	.	.	.	0.028	0.06331	.	.	.	.	0.0034729447233706272	0.00324	.	.	0.598522663116	0.52695	T	0.002815	0.02207	T	-0.296982	0.08946	T	-0.664371	0.07975	T	0.000298728606434334	0.00002	T	0.227477	0.03026	T	0.060971648	0.12573	0.043196924	0.05321	0.060971648	0.12573	0.043196924	0.05321	-3.51	0.16572	T	.	.	0.079	0.07224	B	.	.	-0.617261	0.01525	0.098	0.057558437599456599	0.00015	0.02138	0.06301	N	AEFI	0.027961	0.02376	N	-1.81372414748207	0.00512	0.02205084	-1.77419214230889	0.00845	0.0377715	9.60209616443048E-5	0.04910	0.632932	0.41330	0	0.666794	0.63253	0	0.565031	0.19037	0	0.755437	0.99637	0	.	.	1.85	-3.7	0.04150	-1.387000	0.02641	-5.763000	0.01604	-0.394000	0.05329	0.245000	0.24799	0.000000	0.08366	0.008000	0.08271	0.2827:0.0:0.3453:0.372	3.712	0.07953	256	0.89942	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	10942.0	176	chr2	95859970	.	G	T	10942.0	.	AC=10;AF=0.5;AN=20;BaseQRankSum=-0.161;DP=1219;ExcessHet=22.563;FS=3.703;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=58.93;MQRankSum=-7.945;QD=9.05;ReadPosRankSum=0.658;SOR=0.675	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:122,54:176:99:0|1:95859969_A_AT:1899,0,4899:95859969	0	0	10	0
chr2	95859975	95859975	C	T	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon82:c.G4880A:p.R1627Q	.	957	354	158	53	0	264	0.271605	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.036	.	.	.	0.4301	0.4670	0.4743	0.4733	0.3036	0.4236	0.4062	0.4476	0.00073	19	26028	rs77757712	2.22e-05	6.841e-05	2.827e-05	1.597e-05	8.413e-05	1.591e-05	1.386e-05	2.23e-05	1.218e-05	3.172e-05	8.413e-05	0	0	6.31e-05	0	1.855e-05	1.726e-05	3.789e-05	1.316e-05	1.971e-05	1.286e-05	1.348e-05	6.563e-05	2.19e-06	8.2e-07	.	.	0	0	6.563e-05	0	0	0	0	1.471e-05	0	0	0.162	0.23541	T	0.485	0.11725	T	0.055	0.22733	B	0.007	0.12992	B	.	.	.	.	0.999977	0.18612	N	.	.	.	2.42	0.15376	T	-0.1	0.08495	N	0.04	0.01347	-0.9474	0.41414	T	0.010	0.03492	T	9	0.0016048849	0.00019	T	.	.	.	0.036	0.09122	.	.	.	.	0.007547077727271438	0.00720	.	.	0.508793115616	0.40052	T	0.002443	0.01836	T	-0.329346	0.06161	T	-0.710859	0.05250	T	0.00527709899755481	0.00057	T	0.480052	0.14488	T	0.032344773	0.03241	0.03586384	0.02919	0.032344773	0.03241	0.03586384	0.02918	-4.415	0.29759	T	.	.	0.069	0.03231	B	.	.	0.983069	0.13607	10.14	0.66913885358475289	0.08199	0.01513	0.05000	N	AEFI	0.023495	0.01318	N	-1.4910599935179	0.01913	0.08394092	-1.36789013472358	0.03599	0.1682304	1.02737162787131E-5	0.01202	0.632932	0.41330	0	0.666794	0.63253	0	0.565031	0.19037	0	0.755437	0.99637	0	.	.	1.85	0.634	0.16889	0.827000	0.27075	-0.579000	0.08386	-0.398000	0.05312	0.991000	0.37257	0.000000	0.08366	0.005000	0.06747	0.0:0.1617:0.0:0.8383	5.605	0.16657	256	0.89942	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	10894.0	178	chr2	95859975	.	C	T	10894.0	.	AC=10;AF=0.5;AN=20;BaseQRankSum=-0.325;DP=1203;ExcessHet=22.563;FS=2.826;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=58.89;MQRankSum=-7.848;QD=9.12;ReadPosRankSum=0.594;SOR=0.739	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:123,55:178:99:0|1:95859969_A_AT:1939,0,4918:95859969	0	0	10	0
chr2	95859988	95859988	T	C	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon82:c.A4867G:p.R1623G	.	946	377	143	56	0	255	0.252725	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.031	.	.	.	0.3985	0.4181	0.4615	0.4624	0.2601	0.3839	0.3829	0.4293	0.0005763	15	26028	rs78585559	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.034	0.44029	D	0.037	0.51737	D	0.618	0.39878	P	0.296	0.40883	B	.	.	.	.	1	0.08975	P	.	.	.	2.35	0.16217	T	-2.17	0.49018	N	0.036	0.01068	-1.0403	0.17223	T	0.022	0.09284	T	8	0.0021658242	0.00031	T	.	.	.	0.031	0.07369	.	.	.	.	0.01648333609809802	0.01603	.	.	0.464800566435	0.33968	T	0.014368	0.12243	T	-0.283116	0.10340	T	-0.644453	0.09348	T	0.0103390599998185	0.00141	T	0.690331	0.29972	T	0.11867667	0.27957	0.10622412	0.25550	0.11867667	0.27957	0.10622412	0.25549	-4.221	0.27055	T	.	.	0.167	0.36712	B	.	.	1.395340	0.18086	13.54	0.66348352263891242	0.08032	0.01091	0.04015	N	AEFI	0.037962	0.05300	N	-0.829849498643622	0.12552	0.6125249	-0.95288899799542	0.10856	0.5494909	1.69149918813486E-5	0.02871	0.632932	0.41330	0	0.666794	0.63253	0	0.565031	0.19037	0	0.755437	0.99637	0	.	.	1.85	1.85	0.24418	-0.401000	0.07293	-0.372000	0.09600	0.443000	0.21123	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.2013:0.0:0.7987	3.593	0.07545	256	0.89942	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	9586.04	176	chr2	95859988	.	T	C	9586.04	.	AC=10;AF=0.5;AN=20;BaseQRankSum=0.058;DP=1199;ExcessHet=22.563;FS=2.87;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=58.82;MQRankSum=-7.568;QD=8.1;ReadPosRankSum=-0.168;SOR=0.973	GT:AD:DP:GQ:PL	0/1:124,52:176:99:1730,0,3461	0	0	10	0
chr2	95860002	95860002	T	A	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon82:c.A4853T:p.H1618L	.	945	422	104	51	0	206	0.19619	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.098	.	.	.	0.2918	0.3574	0.4353	0.4062	0.1258	0.3207	0.2719	0.2565	0.0003842	10	26028	rs76379993	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.73	0.05165	T	0.898	0.49442	P	0.775	0.57058	P	.	.	.	.	1	0.08975	P	.	.	.	2.2	0.18570	T	-7.35	0.94620	D	0.157	0.16308	-0.9983	0.30395	T	0.066	0.27087	T	8	0.0024163425	0.00036	T	.	.	.	0.098	0.28162	.	.	.	.	0.011885642134936694	0.01148	.	.	0.603820681572	0.53443	T	0.17093	0.51885	T	-0.130986	0.31337	T	-0.425929	0.30399	T	0.0896707485037565	0.11179	T	0.667933	0.27701	T	0.5114563	0.67764	0.4059057	0.64978	0.5114563	0.67765	0.4059057	0.64978	-5.063	0.37516	T	.	.	0.223	0.45409	B	.	.	1.545032	0.19810	14.45	0.68803435199818186	0.08772	0.02181	0.06385	N	AEFI	0.047683	0.08056	N	-0.541266882709805	0.20758	1.096673	-0.816850501380551	0.14087	0.7342697	9.81280304122205E-6	0.01202	0.632932	0.41330	0	0.666794	0.63253	0	0.565031	0.19037	0	0.755437	0.99637	0	.	.	1.85	-0.873	0.10096	1.014000	0.29553	0.760000	0.21307	0.443000	0.21123	0.026000	0.20160	0.002000	0.18203	0.026000	0.12556	0.2602:0.3442:0.0:0.3955	2.065	0.03383	256	0.89942	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	7776.04	171	chr2	95860002	.	T	A	7776.04	.	AC=10;AF=0.5;AN=20;BaseQRankSum=0.667;DP=1147;ExcessHet=22.563;FS=2.169;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=58.83;MQRankSum=-6.851;QD=6.85;ReadPosRankSum=-0.911;SOR=0.947	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:124,47:171:99:0|1:95860002_T_A:1560,0,4955:95860002	0	0	10	0
chr2	95860007	95860007	A	T	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon82:c.T4848A:p.D1616E	.	965	351	153	53	0	259	0.269511	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.058	.	.	.	0.3716	0.3968	0.4638	0.4468	0.1996	0.3624	0.3348	0.3997	0.000461	12	26028	rs77658288	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	0.42199	D	0.887	0.03161	T	0.886	0.48745	P	0.685	0.53610	P	.	.	.	.	1	0.08975	P	.	.	.	2.36	0.16089	T	0.87	0.01688	N	0.018	0.00252	-1.0311	0.20099	T	0.037	0.16116	T	8	0.0017204583	0.00022	T	.	.	.	0.058	0.16647	0.102	0.01589	.	.	0.0016336715894167176	0.00151	.	.	0.627778291702	0.56830	T	0.00182	0.01242	T	-0.339353	0.05432	T	-0.725233	0.04547	T	0.0127801602154166	0.00217	T	0.50325	0.15827	T	0.05346143	0.10121	0.066788726	0.13731	0.05346143	0.10121	0.066788726	0.13730	-4.052	0.24579	T	.	.	0.276	0.50970	B	.	.	0.679021	0.10477	7.192	0.92075444711269228	0.21422	0.00300	0.01598	N	AEFI	0.017840	0.00496	N	-0.631580650889932	0.18000	0.9310604	-0.811362641984672	0.14221	0.7419123	9.14715249298931E-6	0.01202	0.632932	0.41330	0	0.666794	0.63253	0	0.565031	0.19037	0	0.755437	0.99637	0	.	.	1.85	0.608	0.16746	-0.101000	0.10943	-4.154000	0.02312	0.333000	0.19617	0.036000	0.20778	0.000000	0.08366	0.028000	0.12845	0.5619:0.0:0.0:0.4381	4.768	0.12514	256	0.89942	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	8461.04	165	chr2	95860007	.	A	T	8461.04	.	AC=10;AF=0.5;AN=20;BaseQRankSum=0.586;DP=1122;ExcessHet=22.563;FS=3.022;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=58.81;MQRankSum=-7.219;QD=7.6;ReadPosRankSum=-1.213;SOR=0.966	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:122,43:165:99:0|1:95860002_T_A:1438,0,4924:95860002	0	0	10	0
chr2	95860020	95860020	G	A	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon82:c.C4835T:p.T1612I	.	975	346	149	52	0	253	0.267725	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.071	.	.	.	0.3429	0.4093	0.4357	0.4212	0.1584	0.3445	0.2982	0.3516	0.0003842	10	26028	rs78780931	7.168e-07	5.473e-06	1.415e-06	0	9.285e-07	0	0	.	.	0	0	0	0	0	0	9.285e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	0.999979	0.18612	P	.	.	.	2.38	0.15843	T	3.02	0.00138	N	0.054	0.02559	-0.9370	0.43088	T	0.010	0.03627	T	8	0.0017494261	0.00022	T	.	.	.	0.071	0.20720	.	.	.	.	0.0033875092255602627	0.00316	.	.	0.597990691662	0.52621	T	2.31E-4	0.00048	T	-0.282657	0.10387	T	-0.643793	0.09394	T	0.00465201252591891	0.00050	T	0.257674	0.04066	T	0.036191136	0.04406	0.044979855	0.05950	0.036191136	0.04405	0.044979855	0.05949	-0.577	0.00632	T	.	.	0.124	0.26042	B	.	.	0.379084	0.07510	4.156	0.096937678722497284	0.00105	0.00352	0.01813	N	AEFI	0.013252	0.00170	N	-1.41969246255212	0.02466	0.1089284	-1.29164163050699	0.04543	0.2145151	1.02751695127801E-5	0.01202	0.632932	0.41330	0	0.666794	0.63253	0	0.565031	0.19037	0	0.755437	0.99637	0	.	.	1.85	0.635	0.16895	2.080000	0.41211	-0.435000	0.09196	-1.105000	0.01501	0.995000	0.38783	0.000000	0.08366	0.000000	0.00833	0.8383:0.0:0.1617:0.0	5.605	0.16657	256	0.89942	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	7240.04	151	chr2	95860020	.	G	A	7240.04	.	AC=10;AF=0.5;AN=20;BaseQRankSum=1.1;DP=1028;ExcessHet=22.563;FS=5.221;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=58.71;MQRankSum=-7.247;QD=7.14;ReadPosRankSum=-1.475;SOR=1.166	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:113,38:151:99:0|1:95860020_G_A:1256,0,4546:95860020	0	0	10	0
chr2	95860023	95860023	A	C	exonic	ANKRD36C	.	stopgain	ANKRD36C:NM_001310154:exon82:c.T4832G:p.L1611X	.	975	348	147	52	0	251	0.265048	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3459	0.4102	0.4378	0.4239	0.1587	0.3478	0.2957	0.3558	0.0004226	11	26028	rs74941794	0	6.841e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.64576e-15	0.58761	P	.	.	.	.	.	.	.	.	.	0.039	0.01274	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.464733	0.93127	D	0.429781	0.93041	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive	High	5.440231	0.90928	32	0.96148246009950666	0.28859	0.36954	0.25651	N	AEFI	0.088588	0.17958	N	-0.131946649004641	0.36007	2.075519	-0.471627380579264	0.22940	1.248476	9.52799824835323E-6	0.01202	0.632932	0.41330	0	0.666794	0.63253	0	0.565031	0.19037	0	0.755437	0.99637	0	.	.	1.85	-0.698	0.10713	0.445000	0.21392	-0.434000	0.09203	-1.250000	0.01303	0.993000	0.37899	0.000000	0.08366	0.002000	0.04165	0.6458:0.0:0.3542:0.0	5.748	0.17400	256	0.89942	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	6874.04	150	chr2	95860023	.	A	C	6874.04	.	AC=10;AF=0.5;AN=20;BaseQRankSum=1.07;DP=1000;ExcessHet=22.563;FS=6.519;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=58.71;MQRankSum=-7.331;QD=6.9;ReadPosRankSum=-1.636;SOR=1.231	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:113,37:150:99:0|1:95860020_G_A:1214,0,4549:95860020	0	0	10	0
chr2	95860046	95860046	C	A	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon82:c.G4809T:p.K1603N	.	996	348	132	46	0	224	0.243478	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.027	.	.	.	0.2995	0.4068	0.4155	0.3993	0.0859	0.3214	0.2411	0.2818	0.0869064	2262	26028	rs79908880	2.159e-06	4.789e-06	1.421e-06	2.916e-06	3.19e-05	5.8e-07	1.6e-07	3.1e-07	1.2e-07	3.19e-05	0	0	0	0	0	1.863e-06	0	0	1.972e-05	1.97e-05	2.57e-05	1.346e-05	2.94e-05	5.24e-06	2.45e-06	4.88e-06	1.83e-06	2.414e-05	0	0	0	0	0	0	2.94e-05	0	0	0.767	0.03412	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	P	.	.	.	2.33	0.16492	T	1.87	0.00472	N	0.043	0.01577	-0.9644	0.38330	T	0.008	0.02842	T	8	0.0017981231	0.00024	T	.	.	.	0.027	0.05988	0.388	0.40951	.	.	0.009782736317217211	0.00940	.	.	0.538346886635	0.44213	T	0.002324	0.01720	T	-0.380822	0.03079	T	-0.784801	0.02311	T	0.00124196999210505	0.00012	T	0.263374	0.04265	T	0.04313465	0.06669	0.036235157	0.03030	0.04313465	0.06669	0.036235157	0.03030	-0.766	0.00774	T	.	.	0.068	0.02639	B	.	.	-0.084979	0.03731	0.770	0.10447506845337422	0.00132	0.00336	0.01748	N	AEFI	0.012014	0.00120	N	-2.28437407882715	0.00049	0.002118662	-2.21407410585182	0.00104	0.004576006	2.08611004689468E-5	0.02871	0.632932	0.41330	0	0.666794	0.63253	0	0.657636	0.52715	0	0.755437	0.99637	0	.	.	1.85	-2.51	0.05996	1.202000	0.31878	0.062000	0.14145	-1.184000	0.01383	0.735000	0.28974	0.000000	0.08366	0.000000	0.00833	0.4851:0.195:0.1314:0.1885	0.839	0.01073	256	0.89942	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.45	4291.02	127	chr2	95860046	.	C	A	4291.02	.	AC=9;AF=0.45;AN=20;BaseQRankSum=0.879;DP=789;ExcessHet=15.1594;FS=10.476;InbreedingCoeff=-0.8183;MLEAC=9;MLEAF=0.45;MQ=58.48;MQRankSum=-7.511;QD=5.8;ReadPosRankSum=-0.896;SOR=1.625	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:97,30:127:99:.:.:969,0,2685:.	1	0	9	0
chr2	95891667	95891667	C	G	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon67:c.G3950C:p.R1317T	.	.	.	.	.	.	.	.	0	0.096	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.084	0.00258919318193	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1243857325	1.424e-06	0.0001	2.816e-06	0	2.71e-05	2.4e-07	9e-08	.	.	0	0	0	2.71e-05	0	0	9.245e-07	0	0	0	0.0014	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.509	0.07521	T	0.578	0.08565	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	-1.08	0.77078	T	0.12	0.05604	N	0.068	0.08227	-0.9759	0.35926	T	0.147	0.47255	T	5	0.121881336	0.23111	T	0.002589	0.05235	T	0.084	0.24469	0.235	0.16457	0.393927044628	0.39002	0.0011482701666540294	0.00105	.	.	.	.	.	3.93E-4	0.00124	T	-0.222048	0.17715	T	-0.556733	0.16685	T	0.0224473349077403	0.00959	T	0.29847	0.08399	T	0.06482349	0.13793	0.07730457	0.17207	0.06482349	0.13792	0.07730457	0.17207	-0.2	0.05226	T	.	.	0.083	0.09045	B	.;.	.;.	-1.006024	0.00763	0.024	0.091701984728260702	0.00087	0.00008	0.00134	N	AEFBI	0.017924	0.00505	N	-0.606577077572815	0.18744	0.9757046	-1.03367257472638	0.09050	0.4481512	9.37543306615869E-6	0.01202	0.554377	0.28877	0	0.588066	0.40923	0	0.547309	0.15389	0	0.550183	0.17644	0	.	.	0.569	-0.448	0.11620	-0.076000	0.11374	-4.777000	0.01991	-2.671000	0.00217	0.154000	0.23713	0.000000	0.08366	0.001000	0.02609	.	.	.	250	0.90192	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	36.43	105	chr2	95891667	.	C	G	36.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.56;DP=425;ExcessHet=0;FS=10.615;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=58.57;MQRankSum=-10.18;QD=0.35;ReadPosRankSum=-1.409;SOR=2.44	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:96,9:105:48:0|1:95891667_C_G:48,0,3993:95891667	9	0	1	0
chr2	95891674	95891674	T	A	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon67:c.A3943T:p.T1315S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.098	0.00291427588903	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1260919298	2.841e-06	0.0002	1.405e-06	4.309e-06	.	6.7e-07	4.5e-07	.	.	0	0	0	0	8.162e-05	0	0	0	0	6.687e-06	0.0024	0	1.371e-05	1.486e-05	0	0	.	.	0	0	0	0	0	0	0	1.486e-05	0	0	0.492	0.07944	T	0.292	0.20877	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	-0.93	0.75215	T	-0.29	0.11728	N	0.043	0.02861	-1.0260	0.21756	T	0.121	0.42208	T	5	0.04610786	0.03760	T	0.002914	0.06162	T	0.098	0.28162	0.139	0.04277	0.18995819373	0.18626	3.2899001332843344E-4	0.00029	.	.	.	.	.	0.001442	0.00900	T	-0.278035	0.10877	T	-0.637155	0.09879	T	0.0239688079694826	0.01142	T	0.163384	0.02201	T	0.05901639	0.11943	0.0651601	0.13168	0.05901639	0.11943	0.0651601	0.13167	-2.145	0.24445	T	.	.	0.143	0.31355	B	.;.	.;.	-1.129647	0.00606	0.016	0.031514088493064071	0.00000	0.00007	0.00120	N	AEFBI	0.015590	0.00305	N	-1.46910891231834	0.02071	0.09107147	-1.69214697447218	0.01172	0.05275655	6.86907755470711E-5	0.04366	0.554377	0.28877	0	0.588066	0.40923	0	0.547309	0.15389	0	0.550183	0.17644	0	.	.	0.569	-1.14	0.09241	-0.118000	0.10665	-0.182000	0.11122	-0.854000	0.02687	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	.	.	.	250	0.90192	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	79.43	118	chr2	95891674	.	T	A	79.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.46;DP=440;ExcessHet=0;FS=4.501;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=58.09;MQRankSum=-10.79;QD=0.67;ReadPosRankSum=-2.431;SOR=1.55	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:106,12:118:91:0|1:95891667_C_G:91,0,4244:95891667	9	0	1	0
chr2	95927222	95927222	-	AT	exonic	ANKRD36C	.	frameshift insertion	ANKRD36C:NM_001310154:exon28:c.1930_1931insAT:p.S644Yfs*24	.	585	748	183	6	0	195	0.115316	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0012	0.0015	0.0011	0.0019	0.0005	0.0013	0	0.0007	0.0009605	25	26028	rs745741068	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	6780.01	153	chr2	95927222	.	G	GAT	6780.01	.	AC=10;AF=0.5;AN=20;BaseQRankSum=2.39;DP=1300;ExcessHet=22.563;FS=36.882;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=55.27;MQRankSum=-8.534;QD=5.25;ReadPosRankSum=-4.266;SOR=3.836	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:122,31:153:99:0|1:95927222_G_GAT:934,0,5029:95927222	0	0	10	0
chr2	95927227	95927228	TT	-	exonic	ANKRD36C	.	frameshift deletion	ANKRD36C:NM_001310154:exon28:c.1925_1926del:p.Q642Pfs*18	.	630	694	193	5	0	203	0.127593	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0012	0.0015	0.0011	0.0019	0.0005	0.0013	0	0.0007	0.0009605	25	26028	rs772059065	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	10021.0	172	chr2	95927226	.	GTT	G	10021.0	.	AC=10;AF=0.5;AN=20;BaseQRankSum=2.93;DP=1457;ExcessHet=22.563;FS=15.566;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=55.12;MQRankSum=-9.165;QD=6.89;ReadPosRankSum=-4.116;SOR=2.007	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:131,41:172:99:0|1:95927222_G_GAT:1327,0,5377:95927222	0	0	10	0
chr2	95927234	95927234	T	C	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon28:c.A1919G:p.E640G	.	638	673	206	5	0	216	0.138284	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.149	0.00618498349042	.	.	0.0012	0.0016	0.0011	0.0019	0.0005	0.0013	0	0.0007	3.84e-05	1	26028	rs758839836	6.856e-07	6.84e-07	1.364e-06	0	9.007e-07	0	0	.	.	0	0	0	0	0	0	9.007e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.114	0.36765	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	-1.11	0.77466	T	-0.39	0.13611	N	0.176	0.18920	-0.5261	0.67688	T	0.427	0.77022	T	6	0.03557104	0.01812	T	0.006185	0.16200	T	0.149	0.39377	.	.	0.42989457901	0.42608	0.007308549639332476	0.00696	.	.	.	.	.	0.003258	0.02667	T	-0.0875605	0.38480	T	-0.363551	0.37640	T	0.0366356248361039	0.03091	T	0.168983	0.05631	T	0.062684655	0.13118	0.16541363	0.38267	0.062684655	0.13117	0.16541363	0.38267	-4.184	0.26519	T	.	.	0.130	0.27998	B	.;.	.;.	2.279132	0.29141	18.03	0.9497533031407277	0.25908	0.01715	0.05438	N	AEFBI	0.033788	0.04074	N	-0.603271583609637	0.18846	0.9816864	-0.856632057968517	0.13128	0.6793434	1.06943366512053E-5	0.01202	0.475973	0.10046	0	0.601575	0.49859	0	0.547309	0.15389	0	0.491896	0.07777	0	.	.	0.578	0.578	0.16575	1.624000	0.36629	-0.363000	0.09661	0.319000	0.19345	0.008000	0.17931	0.000000	0.08366	0.003000	0.05239	.	.	.	253	0.90069	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	13156.0	192	chr2	95927234	.	T	C	13156.0	.	AC=10;AF=0.5;AN=20;BaseQRankSum=-0.459;DP=1595;ExcessHet=22.563;FS=10.628;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=54.9;MQRankSum=-9.948;QD=8.25;ReadPosRankSum=-5.267;SOR=1.435	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:140,52:192:99:0|1:95927222_G_GAT:1762,0,5722:95927222	0	0	10	0
chr2	95927252	95927252	A	G	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon28:c.T1901C:p.I634T	.	674	623	216	9	0	234	0.158108	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.194	.	.	.	0.0825	0.1113	0.0839	0.1182	0.1114	0.0793	0.0608	0.0544	3.84e-05	1	26028	rs111976783	2.057e-06	2.052e-06	2.729e-06	1.378e-06	6.728e-05	5.5e-07	1.5e-07	1.784e-05	8.95e-06	0	6.728e-05	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.126	0.27194	T	0.194	0.28120	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	-1.08	0.77078	T	-0.99	0.26200	N	0.069	0.17278	-0.8026	0.54991	T	0.326	0.69410	T	6	0.0039491355	0.00076	T	.	.	.	0.194	0.47447	.	.	.	.	0.0049901546743311475	0.00471	.	.	.	.	.	0.003965	0.03373	T	-0.0895306	0.38154	T	-0.366381	0.37311	T	0.00782888568937778	0.00092	T	0.441356	0.12522	T	0.056561366	0.11145	0.12979923	0.31201	0.056561366	0.11144	0.12979923	0.31200	-5.925	0.50163	T	.	.	0.180	0.48715	B	.;.	.;.	1.251398	0.16483	12.57	0.92565402419728915	0.22018	0.00377	0.01912	N	AEFBI	0.031745	0.03455	N	-0.892394221719867	0.11022	0.5297326	-1.14952198102138	0.06776	0.3273419	1.22801436175958E-5	0.02871	0.475973	0.10046	0	0.601575	0.49859	0	0.547309	0.15389	0	0.491896	0.07777	0	.	.	0.578	-1.16	0.09181	0.550000	0.23052	-1.428000	0.05463	0.359000	0.20063	0.011000	0.18532	0.000000	0.08366	0.036000	0.13842	.	.	.	253	0.90069	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	26684.0	255	chr2	95927252	.	A	G	26684.0	.	AC=10;AF=0.5;AN=20;BaseQRankSum=-0.671;DP=2139;ExcessHet=22.563;FS=0;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=53.89;MQRankSum=-12.53;QD=12.48;ReadPosRankSum=-5.1;SOR=0.718	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:165,90:255:99:0|1:95927222_G_GAT:3282,0,6657:95927222	0	0	10	0
chr2	95927268	95927268	C	A	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon28:c.G1885T:p.D629Y	.	676	613	224	9	0	242	0.16485	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.333	.	.	.	0.0990	0.1443	0.0896	0.1297	0.1231	0.0957	0.0823	0.0698	0.0779227	12047	154602	rs79307257	0	6.84e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	6.596e-06	6.571e-06	0	1.351e-05	1.477e-05	0	0	.	.	0	0	0	0	0	0	0	1.477e-05	0	0	0.001	0.78490	D	0.026	0.72224	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	-1.1	0.77336	T	-1.9	0.44284	N	0.173	0.51315	-0.4874	0.69100	T	0.446	0.78240	T	6	0.0048143566	0.00102	T	.	.	.	0.333	0.65522	.	.	.	.	0.012629181598714094	0.01221	.	.	.	.	.	0.007056	0.06479	T	-0.00641558	0.50765	T	-0.246992	0.50114	T	0.852545201778412	0.50387	D	0.59994	0.27277	T	0.11685397	0.27556	0.18900135	0.42222	0.11685397	0.27555	0.18900135	0.42221	-8.156	0.62848	D	.	.	0.178	0.50389	B	.;.	.;.	2.735108	0.35810	20.0	0.94629422228171811	0.25216	0.01477	0.04919	N	AEFBI	0.029319	0.02744	N	-0.591855003156469	0.19190	1.00245	-0.847697327138236	0.13343	0.6916549	1.13024900829832E-5	0.02871	0.475973	0.10046	0	0.601575	0.49859	0	0.547309	0.15389	0	0.491896	0.07777	0	.	.	0.578	0.578	0.16575	0.534000	0.22807	0.568000	0.19578	0.291000	0.18778	0.021000	0.19753	0.000000	0.08366	0.005000	0.06747	.	.	.	253	0.90069	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	36703.0	299	chr2	95927268	.	C	A	36703.0	.	AC=10;AF=0.5;AN=20;BaseQRankSum=-4.947;DP=2541;ExcessHet=22.563;FS=3.353;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=53.06;MQRankSum=-13.88;QD=14.46;ReadPosRankSum=-4.025;SOR=0.485	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:182,117:299:99:0|1:95927222_G_GAT:4365,0,7227:95927222	0	0	10	0
chr2	95927277	95927277	C	T	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon28:c.G1876A:p.D626N	.	672	616	225	9	0	243	0.164746	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.172	.	.	.	0.0982	0.1425	0.0884	0.1290	0.1219	0.0951	0.0815	0.0693	0.0779679	12054	154602	rs75189823	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009	0.57480	D	0.023	0.57104	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	P	.	.	.	-1.07	0.76948	T	-0.32	0.12283	N	0.045	0.10626	-0.0304	0.81622	T	0.463	0.79190	T	5	0.0036658943	0.00067	T	.	.	.	0.172	0.43662	.	.	.	.	0.0029834670744068	0.00278	.	.	.	.	.	0.001745	0.01167	T	-0.214699	0.18721	T	-0.546177	0.17695	T	0.0182863330978625	0.00547	T	0.726827	0.34112	T	0.056939475	0.11268	0.071558535	0.15336	0.056939475	0.11268	0.071558535	0.15336	-7.104	0.55237	T	.	.	0.131	0.35560	B	.;.	.;.	2.171628	0.27671	17.54	0.99663125085786775	0.78074	0.02072	0.06171	N	AEFBI	0.036161	0.04774	N	-0.595262529696858	0.19088	0.996275	-0.85090525598683	0.13266	0.6872205	1.13024900829832E-5	0.02871	0.475973	0.10046	0	0.601575	0.49859	0	0.547309	0.15389	0	0.491896	0.07777	0	.	.	0.578	0.578	0.16575	0.528000	0.22711	-1.180000	0.06099	0.291000	0.18778	0.002000	0.15269	0.000000	0.08366	0.003000	0.05239	.	.	.	253	0.90069	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	37021.0	320	chr2	95927277	.	C	T	37021.0	.	AC=10;AF=0.5;AN=20;BaseQRankSum=-5.131;DP=2686;ExcessHet=22.563;FS=3.336;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=53.08;MQRankSum=-14.3;QD=14.04;ReadPosRankSum=-1.349;SOR=0.477	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:196,124:320:99:0|1:95927222_G_GAT:4475,0,7554:95927222	0	0	10	0
chr2	95929092	95929092	T	C	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon26:c.A1817G:p.E606G	.	442	885	194	1	0	196	0.0996948	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.197	.	.	.	0.0459	0.0589	0.0223	0.0330	0.0459	0.0434	0.0437	0.0722	0.0179806	468	26028	rs76434426	0	1.368e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.68238	D	0.12	0.48855	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	P	.	.	.	-1.41	0.80560	T	-0.78	0.21644	N	0.056	0.10626	-0.3240	0.74310	T	0.401	0.75223	T	5	0.0049548745	0.00106	T	.	.	.	0.197	0.47942	.	.	.	.	0.0054717690626164255	0.00517	.	.	.	.	.	0.005311	0.04761	T	-0.0584766	0.43144	T	-0.321774	0.42379	T	0.00563426744630397	0.00061	T	0.377662	0.09460	T	0.056738406	0.11204	0.0661094	0.13496	0.056738406	0.11203	0.0661094	0.13496	-3.88	0.22002	T	.	.	0.122	0.31279	B	.;.	.;.	2.425270	0.31191	18.67	0.9961510765788425	0.75052	0.01924	0.05874	N	AEFI	0.033909	0.04109	N	-0.600821869982756	0.18921	0.9861679	-0.827596025984616	0.13828	0.7194133	1.26041081260552E-5	0.02871	0.651	0.46895	0	0.546412	0.12157	0	0.565031	0.19037	0	0.683762	0.67416	0	.	.	0.871	0.871	0.18244	1.761000	0.38070	0.132000	0.15059	0.312000	0.19173	0.010000	0.18352	0.001000	0.17328	0.012000	0.09680	0.0:0.0:0.0:1.0	3.983	0.08994	253	0.90069	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	13585.0	206	chr2	95929092	.	T	C	13585.0	.	AC=10;AF=0.5;AN=20;BaseQRankSum=2.99;DP=1657;ExcessHet=22.563;FS=12.134;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=48.26;MQRankSum=-8.366;QD=8.24;ReadPosRankSum=-2.829;SOR=1.615	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:147,59:206:99:0|1:95929092_T_C:1999,0,5952:95929092	0	0	10	0
chr2	95929110	95929110	A	G	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon26:c.T1799C:p.I600T	.	444	879	199	0	0	199	0.101686	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.230	.	.	.	0.0502	0.0563	0.0250	0.0339	0.0515	0.0474	0.0455	0.0855	0.0009221	24	26028	rs80159651	0	6.84e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.056	0.38185	T	0.013	0.63109	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	-1.17	0.78199	T	-0.21	0.10308	N	0.064	0.13911	-0.7459	0.58149	T	0.297	0.66886	T	6	0.0053180456	0.00117	T	.	.	.	0.230	0.53062	.	.	.	.	0.00358464158390252	0.00335	.	.	.	.	.	5.76E-4	0.00232	T	-0.102964	0.35934	T	-0.385677	0.35058	T	0.00148509498065692	0.00015	T	0.430857	0.15541	T	0.03336381	0.03541	0.041758195	0.04819	0.03336381	0.03540	0.041758195	0.04819	-5.849	0.49914	T	.	.	0.141	0.47448	B	.;.	.;.	1.598186	0.20432	14.75	0.94716897870735495	0.25385	0.00401	0.02002	N	AEFI	0.028900	0.02629	N	-0.753193177697584	0.14546	0.7255317	-1.00196959350196	0.09742	0.4864572	9.46784315172941E-6	0.01202	0.651	0.46895	0	0.546412	0.12157	0	0.565031	0.19037	0	0.683762	0.67416	0	.	.	0.871	-0.637	0.10926	0.215000	0.17352	-1.249000	0.05911	0.351000	0.19951	0.001000	0.13787	0.000000	0.08366	0.003000	0.05239	0.4587:0.0:0.0:0.5413	2.815	0.05119	253	0.90069	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	16538.0	236	chr2	95929110	.	A	G	16538.0	.	AC=10;AF=0.5;AN=20;BaseQRankSum=8.4;DP=1892;ExcessHet=22.563;FS=17.499;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=46.47;MQRankSum=-8.35;QD=8.75;ReadPosRankSum=-1.353;SOR=1.92	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:166,70:236:99:0|1:95929092_T_C:2440,0,6760:95929092	0	0	10	0
chr2	95929126	95929126	C	A	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon26:c.G1783T:p.D595Y	.	442	865	215	0	0	215	0.11054	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.242	.	.	.	0.0287	0.0327	0.0149	0.0205	0.0260	0.0277	0.0293	0.0461	0.0009221	24	26028	rs79434735	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.005	0.72224	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	-0.96	0.75553	T	-1.05	0.27463	N	0.094	0.37717	-0.7052	0.60188	T	0.302	0.67344	T	6	0.007255286	0.00165	T	.	.	.	0.242	0.54781	.	.	.	.	0.01955586045237903	0.01909	.	.	.	.	.	0.003986	0.03393	T	-0.0187037	0.49039	T	-0.264643	0.48358	T	0.00831936897839858	0.00100	T	0.876612	0.58915	D	0.08026257	0.18380	0.06422837	0.12840	0.08026257	0.18380	0.06422837	0.12840	-7.935	0.60626	D	.	.	0.193	0.50147	B	.;.	.;.	1.372804	0.17831	13.39	0.93504610952685097	0.23313	0.02178	0.06379	N	AEFI	0.025243	0.01698	N	-0.59865468081622	0.18985	0.9901359	-0.821302082525131	0.13979	0.7281023	1.38702267383256E-5	0.02871	0.651	0.46895	0	0.546412	0.12157	0	0.565031	0.19037	0	0.683762	0.67416	0	.	.	0.871	0.871	0.18244	-0.066000	0.11556	0.673000	0.20610	0.284000	0.18682	0.001000	0.13787	0.001000	0.17328	0.010000	0.09038	0.0:1.0:0.0:0.0	5.051	0.13847	253	0.90069	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	23460.0	271	chr2	95929126	.	C	A	23460.0	.	AC=10;AF=0.5;AN=20;BaseQRankSum=4.32;DP=2223;ExcessHet=22.563;FS=26.443;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=44.92;MQRankSum=-9.139;QD=10.56;ReadPosRankSum=-1.058;SOR=2.217	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:178,93:271:99:0|1:95929092_T_C:3369,0,7194:95929092	0	0	10	0
chr2	95929130	95929130	G	C	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon26:c.C1779G:p.D593E	.	442	863	217	0	0	217	0.111683	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.082	.	.	.	0.0281	0.0314	0.0152	0.0199	0.0259	0.0271	0.0289	0.0443	0.0009221	24	26028	rs375866621	5.512e-06	6.156e-06	6.857e-06	4.153e-06	7.204e-06	2.37e-06	1.71e-06	3.1e-06	2.24e-06	0	0	0	0	0	0	7.204e-06	0	0	6.603e-06	6.573e-06	1.29e-05	0	1.478e-05	0	0	.	.	0	0	0	0	0	0	0	1.478e-05	0	0	1.0	0.00964	T	0.215	0.26306	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	-0.99	0.75911	T	-0.17	0.09627	N	0.012	0.01274	-0.9830	0.34305	T	0.120	0.41886	T	6	0.0062747	0.00142	T	.	.	.	0.082	0.23913	0.088	0.00943	.	.	0.0012585486106362017	0.00115	.	.	.	.	.	6.61E-4	0.00291	T	-0.22299	0.17588	T	-0.558086	0.16556	T	0.0056942431256175	0.00062	T	0.361264	0.08382	T	0.030476715	0.02717	0.028199261	0.01033	0.030476715	0.02717	0.028199261	0.01033	1.103	0.00153	T	.	.	0.184	0.39898	B	.;.	.;.	-0.102250	0.03628	0.719	0.82362292130898662	0.14152	0.00009	0.00143	N	AEFI	0.011962	0.00118	N	-1.12759496650573	0.06156	0.2826552	-1.32800364383948	0.04072	0.1913117	8.82048009805059E-6	0.01202	0.651	0.46895	0	0.546412	0.12157	0	0.565031	0.19037	0	0.683762	0.67416	0	.	.	0.871	-0.0539	0.13146	0.175000	0.16577	-0.796000	0.07394	-0.724000	0.03774	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.0:0.5966:0.4034:0.0	4.774	0.12542	253	0.90069	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	24873.0	281	chr2	95929130	.	G	C	24873.0	.	AC=10;AF=0.5;AN=20;BaseQRankSum=6.79;DP=2277;ExcessHet=22.563;FS=24.162;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=44.53;MQRankSum=-8.928;QD=10.93;ReadPosRankSum=-1.036;SOR=2.173	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:183,98:281:99:0|1:95929092_T_C:3564,0,7389:95929092	0	0	10	0
chr2	95929135	95929135	C	T	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon26:c.G1774A:p.D592N	.	440	860	222	0	0	222	0.114315	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.061	.	.	.	0.0258	0.0286	0.0139	0.0184	0.0245	0.0251	0.0266	0.0399	0.0009221	24	26028	rs111462973	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	0.56456	D	0.31	0.26306	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	-1.0	0.76037	T	-0.29	0.11728	N	0.04	0.12341	-0.9745	0.36235	T	0.178	0.52334	T	6	0.0032269955	0.00055	T	.	.	.	0.061	0.17616	.	.	.	.	0.004280505726367948	0.00402	.	.	.	.	.	0.002625	0.02014	T	-0.209791	0.19408	T	-0.539127	0.18382	T	0.0104211887073546	0.00143	T	0.69513	0.30474	T	0.054424945	0.10441	0.04548125	0.06130	0.054424945	0.10440	0.04548125	0.06129	-6.736	0.52081	T	.	.	0.134	0.35352	B	.;.	.;.	2.140902	0.27259	17.40	0.99632098778018607	0.76081	0.00615	0.02724	N	AEFI	0.027355	0.02221	N	-0.807133128301253	0.13128	0.6445496	-1.03707422889346	0.08978	0.4441984	8.83579175512005E-6	0.01202	0.651	0.46895	0	0.653731	0.59785	0	0.565031	0.19037	0	0.683762	0.67416	0	.	.	0.871	-0.0868	0.13014	0.656000	0.24632	0.771000	0.21396	0.284000	0.18682	0.006000	0.17386	0.005000	0.19230	0.009000	0.08673	0.0:0.6672:0.0:0.3328	3.151	0.06100	253	0.90069	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	26298.0	285	chr2	95929135	.	C	T	26298.0	.	AC=10;AF=0.5;AN=20;BaseQRankSum=6.09;DP=2381;ExcessHet=22.563;FS=26.117;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=43.98;MQRankSum=-8.81;QD=11.3;ReadPosRankSum=-1.019;SOR=2.219	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:182,103:285:99:0|1:95929092_T_C:3741,0,7313:95929092	0	0	10	0
chr2	96711770	96711770	T	G	exonic	LMAN2L	.	nonsynonymous SNV	LMAN2L:NM_001322351:exon4:c.A235C:p.I79L,LMAN2L:NM_001322350:exon5:c.A256C:p.I86L,LMAN2L:NM_001322356:exon5:c.A235C:p.I79L,LMAN2L:NM_001322346:exon6:c.A268C:p.I90L,LMAN2L:NM_001322347:exon6:c.A289C:p.I97L,LMAN2L:NM_001322354:exon6:c.A268C:p.I90L,LMAN2L:NM_001322355:exon6:c.A235C:p.I79L,LMAN2L:NM_030805:exon6:c.A670C:p.I224L,LMAN2L:NM_001142292:exon7:c.A703C:p.I235L,LMAN2L:NM_001322352:exon8:c.A289C:p.I97L	.	9	1512	1	0	0	1	0.000330579	0.0043	0.06	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.043	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.133	0.26409	T	0.251	0.23638	T	0.013	0.16609	B	0.074	0.28220	B	0.000004	0.62929	D	0.102401	0.999998	0.58761	D	-0.29	0.03673	N	-0.02	0.62918	T	-1.48	0.36189	N	0.419	0.45898	-1.0595	0.11880	T	0.115	0.40853	T	10	0.19318011	0.35077	T	0.026399	0.49309	D	0.043	0.11576	0.667	0.80502	0.420939154896	0.41709	0.5817279084307733	0.58101	0.21794056729	0.24331	0.578453779221	0.49868	T	0.122649	0.44646	T	-0.0696926	0.41376	T	-0.337885	0.40585	T	0.62879353761673	0.37568	D	0.89811	0.64401	D	0.18495649	0.39835	0.14544567	0.34494	0.18495649	0.39835	0.14544567	0.34493	-5.3	0.43039	T	.	.	0.249	0.48397	B	.;.	.;.	2.339718	0.29980	18.30	0.96547682371894195	0.30211	0.95407	0.64599	D	AEFDBI	0.609373	0.59860	D	-0.430274917419804	0.24415	1.318053	-0.234773110018719	0.30299	1.704804	0.497255707965657	0.20913	0.732398	0.92422	0	0.653731	0.59785	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.84	3.47	0.38831	1.459000	0.34844	1.141000	0.24405	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.981000	0.58702	0.0:0.1473:0.0:0.8527	9.382	0.37483	187	0.92701	Legume-like lectin|Legume-like lectin;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	2194.43	171	chr2	96711770	.	T	G	2194.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.018;DP=491;ExcessHet=0;FS=1.902;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.83;ReadPosRankSum=-0.579;SOR=0.851	GT:AD:DP:GQ:PL	0/1:90,81:171:99:2206,0,2406	9	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4	2008.94	160	chr2	97185336	.	GC	G	2008.94	.	AC=8;AF=0.4;AN=20;BaseQRankSum=-0.691;DP=1002;ExcessHet=10.3881;FS=1.877;InbreedingCoeff=-0.6667;MLEAC=8;MLEAF=0.4;MQ=47.13;MQRankSum=-4.821;QD=2.23;ReadPosRankSum=0.714;SOR=0.508	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:144,16:160:99:0|1:97185336_GC_G:239,0,5998:97185336	2	0	8	0
chr2	97185340	97185340	C	G	exonic	ANKRD36	.	stopgain	ANKRD36:NM_001354587:exon29:c.C1964G:p.S655X	.	497	736	288	1	0	290	0.164586	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs961387199	6.861e-07	2.052e-06	1.365e-06	0	2.527e-05	0	0	.	.	0	0	0	2.527e-05	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.055	0.02658	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.289078	0.09729	T	-0.653017	0.08744	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerant;Tolerant	High;High	2.985359	0.39833	21.0	0.68029575050880731	0.08533	0.00253	0.01392	N	AEFI	0.017170	0.00433	N	-0.957463532196475	0.09526	0.4512341	-1.36962598911469	0.03580	0.1672776	1.88742451027402E-5	0.02871	0.651	0.46895	0	0.633656	0.55848	0	0.670488	0.60580	0	0.683762	0.67416	0	.	.	1.06	-2.12	0.06766	-0.027000	0.12319	-1.673000	0.04942	-4.347000	0.00032	0.001000	0.13787	0.000000	0.08366	0.000000	0.00833	0.3106:0.2305:0.0:0.4589	1.483	0.02294	216	0.91608	.;.	.	.	.	.	.	Uncertain significance	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4	2007.98	167	chr2	97185340	.	C	G	2007.98	.	AC=8;AF=0.4;AN=20;BaseQRankSum=-0.465;DP=1013;ExcessHet=10.3881;FS=1.853;InbreedingCoeff=-0.6667;MLEAC=8;MLEAF=0.4;MQ=46.82;MQRankSum=-4.808;QD=2.2;ReadPosRankSum=0.876;SOR=0.505	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:150,17:167:99:0|1:97185336_GC_G:262,0,6247:97185336	2	0	8	0
chr2	97185341	97185341	-	G	exonic	ANKRD36	.	frameshift insertion	ANKRD36:NM_001354587:exon29:c.1965_1966insG:p.K656Efs*5	.	498	735	288	1	0	290	0.164773	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1297719451	0	1.368e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4	1983.94	169	chr2	97185341	.	A	AG	1983.94	.	AC=8;AF=0.4;AN=20;BaseQRankSum=-0.507;DP=1021;ExcessHet=10.3881;FS=0.867;InbreedingCoeff=-0.6667;MLEAC=8;MLEAF=0.4;MQ=46.66;MQRankSum=-4.689;QD=2.15;ReadPosRankSum=1.2;SOR=0.521	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:152,17:169:99:0|1:97185336_GC_G:256,0,6331:97185336	2	0	8	0
chr2	97185346	97185349	TAAT	-	splicing	ANKRD36	.	.	.	.	500	739	281	2	0	285	0.161656	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1368364794	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4	1905.94	179	chr2	97185345	.	GTAAT	G	1905.94	.	AC=8;AF=0.4;AN=20;BaseQRankSum=-1.397;DP=1063;ExcessHet=10.3881;FS=0.865;InbreedingCoeff=-0.6663;MLEAC=8;MLEAF=0.4;MQ=45.93;MQRankSum=-4.495;QD=1.98;ReadPosRankSum=1.87;SOR=0.511	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:162,17:179:99:0|1:97185336_GC_G:226,0,6724:97185336	2	0	8	0
chr2	97513220	97513220	G	A	exonic	ANKRD36B	.	nonsynonymous SNV	ANKRD36B:NM_025190:exon38:c.C2765T:p.A922V	.	613	640	247	22	0	291	0.185232	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0963	0.0850	0.0216	0.0100	0.3296	0.0294	0.1310	0.0097	0.0001921	5	26028	rs80135902	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.01155	T	0.01	0.15535	B	0.002	0.06944	B	.	.	.	.	.	.	.	0	0.06538	N	.	.	.	.	.	.	0.031	0.15888	.	.	.	.	.	.	.	0.0024380386	0.00036	T	.	.	.	.	.	.	.	.	.	0.0030564260149934064	0.00284	.	.	0.613379478455	0.54794	T	0.007581	0.06977	T	-0.0927998	0.37613	T	-0.371077	0.36763	T	.	.	.	0.352565	0.07917	T	0.017845605	0.00308	0.067346	0.13920	0.017845605	0.00308	0.067346	0.13919	-1.943	0.02973	T	.	.	0.108	0.23709	B	.;.;.	.;.;.	0.756607	0.11265	7.891	0.24358559582250291	0.01073	0.00023	0.00238	N	AEFI	.	.	.	.	.	.	.	.	.	1.16123222590643E-6	0.01202	0.294411	0.05044	0	0.332522	0.05826	0	0.183335	0.04453	0	0.223356	0.04673	0	0.0495094	0.09020	1.25	-0.477	0.11493	0.374000	0.20232	-0.021000	0.12925	-0.716000	0.03877	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.7908:0.0:0.2092:0.0	4.611	0.11791	243	0.90483	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.242358	0.041667	0.256579	0.288889	0.375000	0.340426	0.247788	0.262376	0.5	22311.0	211	chr2	97513220	.	G	A	22311.0	.	AC=10;AF=0.5;AN=20;BaseQRankSum=0.053;DP=1505;ExcessHet=22.563;FS=2.574;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=37.14;MQRankSum=-3.622;QD=14.84;ReadPosRankSum=0.342;SOR=0.898	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:135,76:211:99:0|1:97513219_T_C:2785,0,5420:97513219	0	0	10	0
chr2	97513227	97513227	T	C	exonic	ANKRD36B	.	nonsynonymous SNV	ANKRD36B:NM_025190:exon38:c.A2758G:p.K920E	.	611	640	249	22	0	293	0.186268	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0214	0.0529	0.0036	0	0.0702	0.0066	0.0682	0.0028	3.84e-05	1	26028	rs79390266	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.05707	T	0.544	0.37968	P	0.044	0.24394	B	.	.	.	.	.	.	.	1.445	0.36358	L	.	.	.	.	.	.	0.12	0.33250	.	.	.	.	.	.	.	0.0055945516	0.00124	T	.	.	.	.	.	.	.	0.168933306366	0.16529	0.003989330973675759	0.00373	.	.	0.735671639442	0.72336	T	0.033889	0.23100	T	-0.112291	0.34391	T	-0.399074	0.33492	T	.	.	.	0.369363	0.08678	T	0.05957855	0.12126	0.07929396	0.17837	0.05957855	0.12126	0.07929396	0.17837	-5.258	0.39526	T	.	.	0.142	0.33086	B	.;.;.	.;.;.	1.364301	0.17734	13.34	0.46228864402172176	0.03687	0.02246	0.06510	N	AEFI	.	.	.	.	.	.	.	.	.	4.68263816856013E-6	0.01202	0.294411	0.05044	0	0.332522	0.05826	0	0.183335	0.04453	0	0.223356	0.04673	0	0.103977	0.22772	1.25	1.25	0.20475	-0.034000	0.12176	-6.769000	0.01311	0.334000	0.19664	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.0:0.0:0.0:1.0	6.615	0.21965	243	0.90483	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.049467	0.010417	0.061189	0.058140	0.000000	0.104651	0.038462	0.040000	0.5	23638.0	227	chr2	97513227	.	T	C	23638.0	.	AC=10;AF=0.5;AN=20;BaseQRankSum=-0.435;DP=1607;ExcessHet=22.563;FS=2.554;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=37.25;MQRankSum=-3.798;QD=14.94;ReadPosRankSum=0.612;SOR=0.875	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:143,84:227:99:0|1:97513219_T_C:3097,0,5711:97513219	0	0	10	0
chr2	97513244	97513244	G	T	exonic	ANKRD36B	.	nonsynonymous SNV	ANKRD36B:NM_025190:exon38:c.C2741A:p.P914Q	.	595	624	272	31	0	334	0.211125	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0023	0.0143	0	0	0	0.0016	0	0	3.84e-05	1	26028	rs79527710	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.569	0.10391	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	.	.	.	-1.445	0.00556	N	.	.	.	.	.	.	0.188	0.27435	.	.	.	.	.	.	.	0.0063654184	0.00144	T	.	.	.	.	.	.	.	0.320256813643	0.31633	0.004245720093313631	0.00398	.	.	0.703683018684	0.67677	T	0.006209	0.05647	T	-0.125373	0.32247	T	-0.417866	0.31321	T	.	.	.	0.315568	0.06252	T	0.023773897	0.01146	0.07268516	0.15708	0.023773897	0.01146	0.07268516	0.15708	0.674	0.00180	T	.	.	0.102	0.17827	B	.;.;.	.;.;.	-0.119120	0.03530	0.672	0.19522481671669692	0.00662	0.00471	0.02257	N	AEFI	.	.	.	.	.	.	.	.	.	1.11447686844719E-6	0.01202	0.294411	0.05044	0	0.332522	0.05826	0	0.183335	0.04453	0	0.347871	0.05795	0	0.0495094	0.09020	1.25	-0.0318	0.13235	0.839000	0.27239	1.716000	0.28228	-0.610000	0.04588	0.997000	0.40164	0.949000	0.28973	0.001000	0.02609	0.2806:0.0:0.2874:0.432	2.311	0.03930	243	0.90483	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	29141.0	257	chr2	97513244	.	G	T	29141.0	.	AC=10;AF=0.5;AN=20;BaseQRankSum=-0.874;DP=1818;ExcessHet=22.563;FS=1.121;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=37.81;MQRankSum=-4.032;QD=16.06;ReadPosRankSum=0.265;SOR=0.819	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:157,100:257:99:0|1:97513244_G_T:3726,0,6208:97513244	0	0	10	0
chr2	97513253	97513253	A	G	exonic	ANKRD36B	.	nonsynonymous SNV	ANKRD36B:NM_025190:exon38:c.T2732C:p.V911A	.	594	617	279	32	0	343	0.217502	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0010	0.0083	0	0	0	0.0008	0	0	3.84e-05	1	26028	rs80295552	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.424	0.23914	T	0.008	0.14655	B	0.002	0.06944	B	.	.	.	.	.	.	.	0.69	0.16971	N	.	.	.	.	.	.	0.109	0.12627	.	.	.	.	.	.	.	0.00813821	0.00185	T	.	.	.	.	.	.	.	0.216624796971	0.21254	0.003043674037080383	0.00283	.	.	0.697517633438	0.66786	T	0.028597	0.20678	T	-0.148518	0.28543	T	-0.451112	0.27575	T	.	.	.	0.321068	0.06505	T	0.015220522	0.00128	0.050442122	0.07918	0.015220522	0.00128	0.050442122	0.07917	-2.994	0.10116	T	.	.	0.23	0.46273	B	.;.;.	.;.;.	0.168625	0.05582	2.036	0.46468697738120324	0.03724	0.00493	0.02333	N	AEFI	.	.	.	.	.	.	.	.	.	1.09581247054722E-6	0.01202	0.294411	0.05044	0	0.332522	0.05826	0	0.183335	0.04453	0	0.347871	0.05795	0	0.0502799	0.09584	1.25	0.037	0.13512	-0.176000	0.09802	-1.469000	0.05369	-0.632000	0.04510	0.008000	0.17931	0.000000	0.08366	0.002000	0.04165	0.5217:0.0:0.4783:0.0	4.080	0.09400	243	0.90483	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000639	0.000000	0.002857	0.004630	0.000000	0.000000	0.000000	0.000000	0.5	31529.0	274	chr2	97513253	.	A	G	31529.0	.	AC=10;AF=0.5;AN=20;BaseQRankSum=-2.011;DP=1915;ExcessHet=22.563;FS=2.477;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=37.97;MQRankSum=-4.256;QD=16.66;ReadPosRankSum=-0.44;SOR=0.889	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:165,109:274:99:0|1:97513244_G_T:4024,0,6539:97513244	0	0	10	0
chr2	97513254	97513254	C	T	exonic	ANKRD36B	.	nonsynonymous SNV	ANKRD36B:NM_025190:exon38:c.G2731A:p.V911M	.	594	616	280	32	0	344	0.218274	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0011	0.0076	0	0	0	0.0011	0	0	7.68e-05	2	26028	rs74341509	0.0001	0.0001	0.0001	0.0002	0.0002	0.0001	0.0001	0.0002	0.0001	0	0	0	0	0	0	0.0002	0.0002	0	8.256e-05	9.122e-05	7.317e-05	9.244e-05	0.0002	4.621e-05	3.529e-05	9.276e-05	7.178e-05	0	0	0	0	0	0	0	0.0002	0	0	.	.	.	0.098	0.39040	T	0.053	0.22573	B	0.004	0.10090	B	.	.	.	.	.	.	.	0.345	0.11182	N	.	.	.	.	.	.	0.115	0.14480	.	.	.	.	.	.	.	0.008039981	0.00183	T	.	.	.	.	.	.	.	0.201204373187	0.19734	0.004376723944163083	0.00411	.	.	0.681571960449	0.64493	T	0.010384	0.09385	T	-0.177895	0.24050	T	-0.493311	0.23044	T	.	.	.	0.538946	0.18179	T	0.01859633	0.00382	0.05722728	0.10366	0.01859633	0.00382	0.05722728	0.10366	-3.253	0.13139	T	.	.	0.167	0.37746	B	.;.;.	.;.;.	0.527632	0.08965	5.745	0.40177876468154022	0.02819	0.00378	0.01916	N	AEFI	.	.	.	.	.	.	.	.	.	1.15642168101809E-6	0.01202	0.294411	0.05044	0	0.332522	0.05826	0	0.183335	0.04453	0	0.347871	0.05795	0	0.0502799	0.09584	1.25	-0.662	0.10840	-0.590000	0.05854	-9.274000	0.00843	0.304000	0.19002	0.004000	0.16614	0.000000	0.08366	0.002000	0.04165	0.0:0.6788:0.0:0.3212	5.565	0.16451	243	0.90483	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.006345	0.000000	0.005682	0.000000	0.000000	0.000000	0.008264	0.008696	0.5	31538.0	273	chr2	97513254	.	C	T	31538.0	.	AC=10;AF=0.5;AN=20;BaseQRankSum=-1.403;DP=1919;ExcessHet=22.563;FS=2.477;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=37.97;MQRankSum=-4.256;QD=16.69;ReadPosRankSum=-0.7;SOR=0.895	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:164,109:273:99:0|1:97513244_G_T:4027,0,6518:97513244	0	0	10	0
chr2	97513268	97513268	C	T	exonic	ANKRD36B	.	nonsynonymous SNV	ANKRD36B:NM_025190:exon38:c.G2717A:p.R906K	.	591	591	298	42	0	382	0.244246	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2502	0.2966	0.2791	0.2632	0.3769	0.2470	0.2431	0.1747	0.0004995	13	26028	rs144131603	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.274	0.27235	T	0.119	0.26641	B	0.008	0.13708	B	.	.	.	.	.	.	.	1.495	0.37439	L	.	.	.	.	.	.	0.042	0.16028	.	.	.	.	.	.	.	0.002357304	0.00035	T	.	.	.	.	.	.	.	.	.	0.005747616653950952	0.00544	.	.	0.613570392132	0.54820	T	0.017136	0.14032	T	-0.187866	0.22573	T	-0.507633	0.21559	T	.	.	.	0.572743	0.20478	T	0.03131732	0.02950	0.0672792	0.13896	0.03131732	0.02950	0.0672792	0.13896	-3.791	0.20670	T	.	.	0.137	0.29968	B	.;.;.	.;.;.	-1.310648	0.00429	0.009	0.36842002943516644	0.02393	0.00779	0.03201	N	AEFI	.	.	.	.	.	.	.	.	.	1.25854079706441E-6	0.01202	0.294411	0.05044	0	0.332522	0.05826	0	0.078618	0.02440	0	0.347871	0.05795	0	0.0933222	0.21027	1.25	0.308	0.15062	-1.265000	0.02953	-5.898000	0.01560	-1.898000	0.00526	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.7823:0.0:0.2177	5.370	0.15434	243	0.90483	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.308701	0.315385	0.320055	0.309735	0.250000	0.263158	0.341912	0.338843	0.5	34648.0	295	chr2	97513268	.	C	T	34648.0	.	AC=10;AF=0.5;AN=20;BaseQRankSum=-0.562;DP=2031;ExcessHet=22.563;FS=1.756;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=38.45;MQRankSum=-4.865;QD=17.14;ReadPosRankSum=-0.434;SOR=0.859	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:173,122:295:99:0|1:97513268_C_T:4582,0,6883:97513268	0	0	10	0
chr2	97513270	97513270	A	C	exonic	ANKRD36B	.	stopgain	ANKRD36B:NM_025190:exon38:c.T2715G:p.Y905X	.	591	592	298	41	0	380	0.242967	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2438	0.2932	0.2713	0.2615	0.3746	0.2394	0.2372	0.1697	0.0005763	15	26028	rs879468063	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.13	0.16586	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.361473	0.04047	T	-0.757008	0.03221	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.	.;.;.	3.385426	0.46848	22.4	0.44838944251633817	0.03476	0.03038	0.07927	N	AEFI	.	.	.	.	.	.	.	.	.	1.13426159498125E-6	0.01202	0.294411	0.05044	0	0.332522	0.05826	0	0.078618	0.02440	0	0.347871	0.05795	0	0.166916	0.28634	1.25	0.017	0.13431	-0.091000	0.11111	-1.488000	0.05326	0.375000	0.20354	0.013000	0.18845	0.000000	0.08366	0.003000	0.05239	0.7855:0.0:0.2145:0.0	4.462	0.11093	243	0.90483	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.323424	0.318182	0.331044	0.327434	0.333333	0.307018	0.349265	0.347107	0.5	32483.0	301	chr2	97513270	.	A	C	32483.0	.	AC=10;AF=0.5;AN=20;BaseQRankSum=-0.141;DP=2044;ExcessHet=22.563;FS=1.745;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=38.51;MQRankSum=-4.865;QD=15.9;ReadPosRankSum=-0.382;SOR=0.853	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:177,124:301:99:0|1:97513268_C_T:4613,0,6984:97513268	0	0	10	0
chr2	97513271	97513271	T	C	exonic	ANKRD36B	.	nonsynonymous SNV	ANKRD36B:NM_025190:exon38:c.A2714G:p.Y905C	.	591	590	299	42	0	383	0.245042	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2908	0.3387	0.3276	0.3085	0.4114	0.2887	0.2821	0.2034	0.0006531	17	26028	rs146893214	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.128	0.56640	T	0.022	0.18677	B	0.002	0.06944	B	.	.	.	.	.	.	.	1.14	0.29013	L	.	.	.	.	.	.	0.149	0.51315	.	.	.	.	.	.	.	0.0020657778	0.00029	T	.	.	.	.	.	.	.	.	.	0.004479552258500605	0.00420	.	.	0.829705476761	0.86516	D	0.127676	0.45486	T	0.00706366	0.52624	T	-0.22763	0.52001	T	.	.	.	0.424058	0.11326	T	0.08367851	0.19332	0.12435671	0.29977	0.08367851	0.19332	0.12435671	0.29976	-3.342	0.14285	T	.	.	0.228	0.46049	B	.;.;.	.;.;.	2.163208	0.27562	17.50	0.45197924751744767	0.03530	0.10868	0.16248	N	AEFI	.	.	.	.	.	.	.	.	.	1.47313282737101E-6	0.01202	0.294411	0.05044	0	0.332522	0.05826	0	0.078618	0.02440	0	0.347871	0.05795	0	0.0933222	0.21027	1.25	1.25	0.20475	2.350000	0.43718	-0.293000	0.10176	0.334000	0.19664	0.983000	0.35670	0.000000	0.08366	0.004000	0.06068	0.0:0.2551:0.0:0.7449	3.086	0.05898	243	0.90483	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.421021	0.365672	0.435440	0.398230	0.416667	0.385965	0.470588	0.438017	0.5	34968.0	304	chr2	97513271	.	T	C	34968.0	.	AC=10;AF=0.5;AN=20;BaseQRankSum=-0.323;DP=2052;ExcessHet=22.563;FS=1.108;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=38.54;MQRankSum=-4.877;QD=17.04;ReadPosRankSum=-0.39;SOR=0.833	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:178,126:304:99:0|1:97513268_C_T:4654,0,7000:97513268	0	0	10	0
chr2	97513281	97513281	C	T	exonic	ANKRD36B	.	nonsynonymous SNV	ANKRD36B:NM_025190:exon38:c.G2704A:p.E902K	.	587	587	303	45	0	393	0.250798	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4801	0.5496	0.4874	0.4823	0.5076	0.4642	0.4639	0.4735	0.0017529	271	154602	rs5011473	3.077e-05	0.0002	3.34e-05	2.81e-05	0.0001	2.332e-05	2.077e-05	3.145e-05	1.671e-05	0.0001	0	0	0	0.0007	0	2.729e-06	0	0	0	9.135e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	0.094	0.41573	T	0.98	0.59353	D	0.855	0.60933	P	.	.	.	.	.	.	.	1.765	0.45800	L	.	.	.	.	.	.	0.208	0.65758	.	.	.	.	.	.	.	0.002158165	0.00031	T	.	.	.	.	.	.	.	.	.	0.03228563945784759	0.03176	.	.	0.789947628975	0.80434	T	0.190084	0.54451	T	0.0749938	0.61451	D	-0.130053	0.60967	T	.	.	.	0.733627	0.34942	T	0.02507305	0.01405	0.09507035	0.22531	0.02507305	0.01404	0.09507035	0.22530	-6.657	0.51486	T	.	.	0.139	0.30476	B	.;.;.	.;.;.	2.117809	0.26958	17.30	0.4037492673049709	0.02845	0.56632	0.30167	D	AEFI	.	.	.	.	.	.	.	.	.	1.05171682619281E-5	0.01202	0.294411	0.05044	0	0.332522	0.05826	0	0.078618	0.02440	0	0.347871	0.05795	0	0.167599	0.28683	1.4	1.4	0.21393	3.749000	0.54867	0.048000	0.13961	-0.659000	0.04360	1.000000	0.71638	0.001000	0.17328	0.002000	0.04165	0.0:1.0:0.0:0.0	8.752	0.33786	243	0.90483	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.529548	0.601351	0.515110	0.508696	0.416667	0.517241	0.552448	0.516393	0.5	34754.0	295	chr2	97513281	.	C	T	34754.0	.	AC=10;AF=0.5;AN=20;BaseQRankSum=-0.105;DP=2075;ExcessHet=22.563;FS=1.744;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=38.89;MQRankSum=-5.07;QD=16.85;ReadPosRankSum=-0.404;SOR=0.81	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:177,118:295:99:0|1:97513268_C_T:4305,0,6948:97513268	0	0	10	0
chr2	97513354	97513354	T	C	exonic	ANKRD36B	.	nonsynonymous SNV	ANKRD36B:NM_025190:exon38:c.A2631G:p.I877M	.	663	628	207	24	0	255	0.168762	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4962	0.4838	0.4975	0.4959	0.5008	0.4970	0.4959	0.4971	0.0692716	1803	26028	rs879259208	1.426e-06	2.057e-06	1.417e-06	1.436e-06	9.218e-07	2.4e-07	9e-08	.	.	0	0	0	0	0	0	9.218e-07	1.742e-05	0	3.782e-05	4.181e-05	5.896e-05	1.554e-05	0.0004	1.406e-05	9.03e-06	0.0001	9.02e-05	0	0	0.0004	0	0	0	0	0	0	0	.	.	.	0.093	0.39799	T	0.563	0.38396	P	0.061	0.26820	B	.	.	.	.	.	.	.	0.69	0.16971	N	.	.	.	.	.	.	0.086	0.34120	.	.	.	.	.	.	.	0.00250566	0.00038	T	.	.	.	.	.	.	.	.	.	0.005410322706841144	0.00512	.	.	0.634645044804	0.57804	T	0.046049	0.27308	T	-0.0562864	0.43486	T	-0.318628	0.42725	T	.	.	.	0.682432	0.29103	T	0.06877274	0.15009	0.14055093	0.33500	0.06877274	0.15009	0.14055093	0.33499	-5.398	0.40900	T	.	.	0.175	0.41387	B	.;.;.	.;.;.	2.260359	0.28881	17.94	0.78590890435183058	0.12367	0.19138	0.20543	N	AEFI	.	.	.	.	.	.	.	.	.	1.43761767599795E-6	0.01202	0.294411	0.05044	0	0.332522	0.05826	0	0.078618	0.02440	0	0.223356	0.04673	0	0.0910582	0.20564	1.4	1.4	0.21393	0.366000	0.20099	-0.250000	0.10515	0.334000	0.19664	0.995000	0.38783	0.000000	0.08366	0.026000	0.12556	0.3508:0.0:0.0:0.6492	3.561	0.07435	243	0.90483	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.493015	0.474026	0.484848	0.500000	0.500000	0.517241	0.503597	0.495868	0.5	8228.04	185	chr2	97513354	.	T	C	8228.04	.	AC=10;AF=0.5;AN=20;BaseQRankSum=1.32;DP=1254;ExcessHet=22.563;FS=1.23;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=40.12;MQRankSum=-3.558;QD=6.78;ReadPosRankSum=0.474;SOR=0.601	GT:AD:DP:GQ:PL	0/1:116,69:185:99:1471,0,2998	0	0	10	0
chr2	99371668	99371668	A	G	exonic	EIF5B	.	nonsynonymous SNV	EIF5B:NM_015904:exon9:c.A1490G:p.D497G	.	.	.	.	.	.	.	.	.	.	.	3238720	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.039	0.0122255616522	0.0002	0.000199681	0.0001	0	0	0	0	0.0002	0.0012	6.351e-05	0.00011	17	154602	rs202035862	8.697e-05	8.687e-05	7.358e-05	0.0001	0.0010	7.428e-05	6.976e-05	0.0005	0.0003	8.971e-05	6.718e-05	0	0	1.876e-05	0.0010	9.269e-05	0.0002	1.165e-05	4.596e-05	4.593e-05	1.285e-05	8.056e-05	7.352e-05	2.108e-05	1.526e-05	2.847e-05	1.859e-05	2.405e-05	0	6.536e-05	0	0	0	0	7.352e-05	0	0	0.058	0.37750	T	0.194	0.51112	T	0.023	0.18885	B	0.014	0.16862	B	.	.	.	.	0.555132	0.31302	N	0	0.06538	N	0.83	0.47815	T	-2.04	0.46842	N	0.209	0.25377	-1.0006	0.29746	T	0.072	0.29227	T	8	0.05199924	0.05166	T	0.012226	0.30616	T	0.039	0.10176	.	.	0.36254010156	0.35860	0.257628774389225	0.25676	0.203379090619	0.22757	0.360445380211	0.19450	T	0.32829	0.69872	T	-0.383173	0.02975	T	-0.498035	0.22551	T	0.104613916732226	0.12856	T	0.869813	0.57430	D	0.103592664	0.24486	0.13529032	0.32396	0.103592664	0.24486	0.13529032	0.32395	-4.3	0.28177	T	.	.	0.075	0.09288	B	.;.	.;.	3.901005	0.56829	23.8	0.9776910200697525	0.35857	0.98571	0.84224	D	AEFBI	0.705838	0.66109	D	-0.229107984969096	0.31945	1.796372	-0.0247279218276201	0.38601	2.276583	0.440847150367316	0.20452	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.63	4.45	0.53365	4.777000	0.62054	7.903000	0.73657	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.991000	0.66497	0.8531:0.0:0.0:0.1469	10.326	0.42978	490	0.76723	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001511	0.010101	0.000000	0.002924	0.000000	0.000000	0.000000	0.000000	0.05	798.43	77	chr2	99371668	.	A	G	798.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.967;DP=394;ExcessHet=0;FS=4.475;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.37;ReadPosRankSum=0.292;SOR=1.219	GT:AD:DP:GQ:PL	0/1:43,34:77:99:810,0,1119	9	0	1	0
chr2	99390610	99390610	G	A	exonic	EIF5B	.	nonsynonymous SNV	EIF5B:NM_015904:exon17:c.G2653A:p.G885R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.767	0.233365388753	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1239306947	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.012	0.54683	D	0.002	0.79402	D	1.0	0.90584	D	0.998	0.88582	D	.	.	.	.	1	0.81001	D	3.51	0.92865	H	-1.32	0.79761	T	-7.43	0.94843	D	0.888	0.88687	0.556	0.91309	D	0.713	0.90144	D	8	0.9708108	0.96676	D	0.233365	0.88363	D	0.767	0.92129	0.916	0.98422	0.690808643571	0.68815	0.7173418884875061	0.71677	2.22149279626	0.95840	0.881300926208	0.94135	D	0.617984	0.87985	D	0.218846	0.75665	D	0.0765813	0.75349	D	0.991426477995318	0.81718	D	0.993201	0.97808	D	0.5181491	0.68153	0.6166811	0.77684	0.5181491	0.68154	0.6166811	0.77685	-12.442	0.86937	D	.	.	0.983	0.91793	P	.;.	.;.	5.399648	0.90430	31	0.99937057465776302	0.99661	0.98583	0.84360	D	AEFBI	0.920251	0.89195	D	0.907512754117322	0.92122	11.24571	0.86181587170268	0.93687	12.21075	0.999999999984001	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.53	5.53	0.82530	7.994000	0.87951	11.784000	0.96188	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0738:0.0:0.9262:0.0	13.083	0.58534	441	0.80015	Translation elongation factor EFTu-like, domain 2;Translation elongation factor EFTu-like, domain 2	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	219.16	95	chr2	99390610	.	G	A	219.16	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-5.223;DP=545;ExcessHet=0.2348;FS=118.475;InbreedingCoeff=-0.1111;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=1.04;ReadPosRankSum=1.26;SOR=7.222	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:77,15:95:99:.:.:166,0,3091:.	9	0	1	0
chr2	99390613	99390613	G	C	exonic	EIF5B	.	nonsynonymous SNV	EIF5B:NM_015904:exon17:c.G2656C:p.D886H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.833	0.106473041921	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.435e-06	0.0001	1.367e-06	5.524e-06	2.712e-06	1.01e-06	7.3e-07	7.2e-07	2e-07	0	0	0	0	0	0	2.712e-06	3.327e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.004	0.74150	D	1.0	0.90584	D	0.99	0.78936	D	.	.	.	.	1	0.81001	D	3.52	0.92970	H	-0.75	0.73311	T	-5.7	0.87380	D	0.776	0.77319	0.562	0.91400	D	0.695	0.89488	D	8	0.95167446	0.94507	D	0.106473	0.78210	D	0.833	0.94728	0.879	0.96784	0.736229469925	0.73387	0.7406881022366005	0.74013	2.20945217804	0.95737	0.828492999077	0.86332	D	0.645905	0.89196	D	0.318573	0.84369	D	0.219832	0.84166	D	0.987848723263907	0.78266	D	0.964404	0.87416	D	0.7238549	0.79376	0.82234377	0.89689	0.7238549	0.79378	0.82234377	0.89690	-12.543	0.87395	D	.	.	0.842	0.79349	P	.;.	.;.	5.505696	0.91630	32	0.9968045988301234	0.79241	0.99418	0.95776	D	AEFBI	0.905087	0.85617	D	0.985501792892842	0.95282	13.47336	0.932565831737932	0.96841	15.21986	1.0	0.98316	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.53	5.53	0.82530	9.802000	0.98244	11.789000	0.96319	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:1.0:0.0	19.811	0.96543	441	0.80015	Translation elongation factor EFTu-like, domain 2;Translation elongation factor EFTu-like, domain 2	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05556	544.3	97	chr2	99390613	.	G	C	544.3	.	AC=1;AF=0.056;AN=18;BaseQRankSum=-3.313;DP=859;ExcessHet=1.5895;FS=106.986;InbreedingCoeff=-0.2903;MLEAC=1;MLEAF=0.056;MQ=60;MQRankSum=0;QD=1.17;ReadPosRankSum=1.22;SOR=8.739	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:76,21:97:99:0|1:99390613_G_C:223,0,2895:99390613	8	0	1	1
chr2	102532531	102532531	C	T	exonic	SLC9A4	.	nonsynonymous SNV	SLC9A4:NM_001011552:exon12:c.C2240T:p.P747L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.094	0.0263800486297	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.052e-06	2.052e-06	1.361e-06	2.75e-06	0.0003	5.5e-07	1.5e-07	6.092e-05	2.521e-05	0	0	0	0	0	0.0003	8.993e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.68238	D	0.097	0.39190	T	0.001	0.07471	B	0.002	0.06944	B	0.046092	0.23472	N	0.423800	0.999737	0.20548	N	2.095	0.58118	M	0.63	0.53088	T	-1.8	0.42384	N	0.141	0.14054	-1.0107	0.26698	T	0.098	0.36548	T	10	0.09931418	0.18014	T	0.02638	0.49291	D	0.094	0.27141	0.415	0.45380	0.32980341726	0.32591	0.3452868620778293	0.34442	0.278091656292	0.30296	0.387535512447	0.23322	T	0.10719	0.41917	T	-0.129993	0.31497	T	-0.424502	0.30562	T	0.807177841663361	0.46849	D	0.757724	0.38135	T	0.085040756	0.19710	0.11430353	0.27591	0.085040756	0.19710	0.11430353	0.27590	-4.751	0.34015	T	.	.	0.160	0.35414	B	.	.	2.813865	0.37048	20.4	0.98758869288410922	0.45785	0.13144	0.17688	N	AEFBI	0.052691	0.09428	N	-0.434979767399024	0.24253	1.308204	-0.373223135716798	0.25797	1.420972	0.00506790006067929	0.10815	0.603402	0.35316	0	0.59043	0.45803	0	0.573888	0.23631	0	0.663205	0.64265	0	.	.	5.31	5.31	0.75063	1.749000	0.37946	3.981000	0.40905	0.599000	0.40250	0.301000	0.25333	1.000000	0.68203	0.377000	0.26268	0.0:0.9098:0.0:0.0902	10.386	0.43321	573	0.70213	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1492.43	111	chr2	102532531	.	C	T	1492.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.86;DP=414;ExcessHet=0;FS=1.514;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.45;ReadPosRankSum=0.13;SOR=0.61	GT:AD:DP:GQ:PL	0/1:58,53:111:99:1504,0,1623	9	0	1	0
chr2	106468221	106468221	C	G	exonic	RGPD3	.	nonsynonymous SNV	RGPD3:NM_001144013:exon1:c.G68C:p.R23P	.	5	1502	15	0	0	15	0.00496853	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.084	.	0.0009	0.0167732	0.0148	0.0005	0.0012	0.0337	0	0.0005	0.0090	0.0759	0.0085898	1328	154602	rs114641853	0.0048	0.0049	0.0033	0.0064	0.0591	0.0047	0.0047	0.0577	0.0571	0.0002	0.0004	0	0.0299	0	0.0015	0.0005	0.0047	0.0591	0.0030	0.0030	0.0019	0.0041	0.0630	0.0027	0.0027	0.0571	0.0549	0.0002	0	0.0003	0	0.0191	0	0.0034	0.0004	0.0024	0.0630	0.037	0.43085	D	0.058	0.46406	T	0.989	0.62824	D	0.859	0.61184	P	.	.	.	.	0.998387	0.22188	N	2.125	0.59049	M	1.0	0.41392	T	-3.28	0.65627	D	0.515	0.54584	-1.0598	0.11805	T	0.079	0.31314	T	9	0.0034672916	0.00061	T	.	.	.	0.084	0.24469	.	.	0.159798565429	0.15598	0.0477392602249862	0.04716	.	.	0.801177322865	0.82142	T	0.043613	0.26557	T	-0.458615	0.01003	T	-0.387523	0.34843	T	0.0518186714386404	0.05817	T	0.676832	0.28555	T	0.35388973	0.57368	0.45053053	0.68024	0.35388973	0.57368	0.45053053	0.68025	-3.311	0.13879	T	.	.	0.199	0.50898	B	.;.	.;.	2.480057	0.31981	18.90	0.58543926219636166	0.06017	0.19323	0.20616	N	AEFDI	0.117440	0.23006	N	-0.227247272579008	0.32020	1.801393	-0.442561024818947	0.23760	1.29745	3.42504440729709E-5	0.03775	0.615465	0.37627	0	0.550933	0.16991	0	0.489635	0.07774	0	0.655142	0.61905	0	.	.	1.8	1.8	0.24069	1.807000	0.38540	7.136000	0.57639	0.265000	0.18437	0.947000	0.32937	1.000000	0.68203	0.050000	0.15192	0.0:1.0:0.0:0.0	7.025	0.24113	864	0.32732	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.007634	0.000000	0.000000	0.008333	0.000000	0.000000	0.000000	0.046512	0.05	1264.43	124	chr2	106468221	.	C	G	1264.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.583;DP=473;ExcessHet=0;FS=1.456;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=59.96;MQRankSum=0.954;QD=10.2;ReadPosRankSum=1.15;SOR=0.566	GT:AD:DP:GQ:PL	0/1:66,58:124:99:1276,0,1645	9	0	1	0
chr2	108676009	108676009	G	A	exonic	LIMS1	.	nonsynonymous SNV	LIMS1:NM_001193482:exon6:c.G638A:p.G213D,LIMS1:NM_001193483:exon6:c.G662A:p.G221D,LIMS1:NM_001193484:exon6:c.G737A:p.G246D,LIMS1:NM_001193485:exon6:c.G812A:p.G271D,LIMS1:NM_001193488:exon6:c.G626A:p.G209D,LIMS1:NM_001371494:exon6:c.G812A:p.G271D,LIMS1:NM_001371495:exon6:c.G662A:p.G221D,LIMS1:NM_001371496:exon6:c.G689A:p.G230D,LIMS1:NM_001371497:exon6:c.G647A:p.G216D,LIMS1:NM_001371498:exon6:c.G626A:p.G209D,LIMS1:NM_004987:exon6:c.G626A:p.G209D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.888	0.388595568631	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.043	0.44029	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.000002	0.62929	D	0.000000	1	0.81001	D	1.73	0.44655	L	-2.23	0.87116	D	-5.91	0.88904	D	0.963	0.97317	0.622	0.92186	D	0.745	0.91299	D	10	0.9387306	0.93200	D	0.388596	0.93136	D	0.888	0.96762	0.798	0.91802	0.94457938032	0.94399	0.8830277591279718	0.88270	.	.	0.948606193066	0.99719	D	0.635394	0.88752	D	0.421339	0.91090	D	0.367448	0.90979	D	0.997467875480652	0.91620	D	0.979402	0.92878	D	0.7851455	0.82971	0.7356579	0.84377	0.7851455	0.82973	0.7356579	0.84378	-13.94	0.92860	D	.	.	0.990	0.95290	P	.;.;.;.;.;.	.;.;.;.;.;.	5.413889	0.90608	31	0.99814382890259779	0.89797	0.99503	0.96817	D	AEFBI	0.944320	0.95126	D	0.762849224687108	0.83740	8.096994	0.752537488395161	0.86344	8.859825	0.999999999903869	0.74766	0.722319	0.85440	0	0.724815	0.89359	0	0.709663	0.75317	0	0.735409	0.98432	0	.	.	5.2	5.2	0.71720	9.998000	0.99325	11.896000	0.99222	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.977000	0.56843	0.0:0.0:1.0:0.0	18.718	0.91643	855	0.34697	.;Zinc finger, LIM-type|Zinc finger, LIM-type|Zinc finger, LIM-type;Zinc finger, LIM-type|Zinc finger, LIM-type|Zinc finger, LIM-type;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1142.43	78	chr2	108676009	.	G	A	1142.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-3.226;DP=432;ExcessHet=0;FS=3.343;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=59.91;MQRankSum=0;QD=14.65;ReadPosRankSum=-1.704;SOR=0.372	GT:AD:DP:GQ:PL	0/1:35,43:78:99:1154,0,1034	9	0	1	0
chr2	157321525	157321525	C	G	exonic	ERMN	.	nonsynonymous SNV	ERMN:NM_001304346:exon3:c.G541C:p.V181L,ERMN:NM_020711:exon3:c.G601C:p.V201L,ERMN:NM_001009959:exon4:c.G640C:p.V214L,ERMN:NM_001304344:exon4:c.G601C:p.V201L,ERMN:NM_001304345:exon4:c.G601C:p.V201L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.194	0.00202641819198	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001	0.0035	0.0001	0.0001	0.0002	0.0001	0.0001	0.0001	0.0001	9.206e-05	2.239e-05	0	7.6e-05	0	0	0.0002	0.0002	5.858e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	0.56456	D	0.591	0.16134	T	0.753	0.43334	P	0.241	0.38645	B	0.000353	0.45440	D	0.096119	0.825017	0.28834	N	2.39	0.68882	M	.	.	.	-2.33	0.51646	N	0.32	0.63713	-1.0082	0.27479	T	0.064	0.26667	T	9	0.2529603	0.42657	T	0.002026	0.03668	T	0.194	0.47447	0.398	0.42590	0.449379577644	0.44558	0.335866359051135	0.33499	0.188691245063	0.21188	0.471151411533	0.34839	T	0.175291	0.52483	T	0.0512656	0.58505	T	-0.164137	0.57977	T	0.936455905437469	0.60547	D	0.767123	0.39577	T	0.19478427	0.41242	0.19957332	0.43846	0.19478427	0.41242	0.19957332	0.43845	-4.026	0.24787	T	.	.	0.610	0.71848	P	.;.;.	.;.;.	3.057320	0.41045	21.3	0.99387453982124174	0.62157	0.97238	0.73508	D	AEFDBI	0.448369	0.50363	N	0.192805104781322	0.50852	3.271494	0.289710337560756	0.54937	3.657473	0.999627476162613	0.41093	0.706298	0.61202	0	0.709663	0.81188	0	0.491513	0.07944	0	0.564101	0.26826	0	.	.	5.81	4.94	0.64645	2.554000	0.45507	4.885000	0.45705	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.986000	0.61781	0.1418:0.7861:0.0:0.0721	9.504	0.38199	557	0.71576	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3889	547.15	205	chr2	157321525	.	C	G	547.15	.	AC=7;AF=0.389;AN=18;BaseQRankSum=-3.715;DP=1784;ExcessHet=7.0302;FS=288.634;InbreedingCoeff=-0.5861;MLEAC=7;MLEAF=0.389;MQ=60;MQRankSum=0;QD=0.48;ReadPosRankSum=1.55;SOR=12.262	GT:AD:DP:GQ:PL	0/1:138,57:205:76:76,0,2631	2	0	7	1
chr2	157430559	157430559	G	A	exonic	CYTIP	.	nonsynonymous SNV	CYTIP:NM_004288:exon5:c.C476T:p.T159M	.	432	1089	1	0	0	1	0.000458926	0.0010	0.074	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.062	0.0160733490095	.	0.000199681	2.472e-05	0	0	0	0	2.998e-05	0	6.058e-05	2.59e-05	4	154602	rs534886532	3.148e-05	3.215e-05	3.405e-05	2.889e-05	0.0002	2.413e-05	2.158e-05	2.712e-05	2.388e-05	0	4.472e-05	0	0	0	0.0002	3.599e-05	3.312e-05	1.159e-05	3.94e-05	3.937e-05	6.425e-05	1.343e-05	0.0002	1.714e-05	1.129e-05	1.972e-05	1.125e-05	2.405e-05	0	0	0	0	0	0	5.881e-05	0	0.0002	0.063	0.42487	T	0.176	0.52727	T	0.092	0.25296	B	0.073	0.28123	B	0.000418	0.44736	D	0.282616	1	0.81001	D	1.125	0.28843	L	1.5	0.31205	T	-0.01	0.32185	N	0.326	0.36674	-1.0589	0.12032	T	0.073	0.29419	T	9	0.11976424	0.22670	T	0.016073	0.37142	T	0.062	0.17934	0.513	0.61153	0.33440975612	0.33058	0.4132158772425751	0.41237	0.226571706203	0.25209	0.312266856432	0.12249	T	0.123248	0.44748	T	-0.314241	0.07380	T	-0.508866	0.21432	T	0.0934132249572416	0.11617	T	0.686031	0.38135	T	0.105750024	0.25004	0.11176847	0.26962	0.105750024	0.25004	0.11176847	0.26961	-5.209	0.39033	T	.	.	0.094	0.14293	B	.;.	.;.	2.845674	0.37553	20.5	0.97909508979895044	0.36801	0.58835	0.30750	D	AEFGBCI	0.215162	0.34055	N	-0.19374676826343	0.33393	1.89406	-0.123444954935714	0.34448	1.981584	0.961922587709504	0.28587	0.67177	0.52595	0	0.702456	0.74545	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	5.87	0.085	0.13751	0.856000	0.27473	2.449000	0.32805	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0787:0.5868:0.3346:0.0	11.194	0.47932	324	0.86790	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	0.001511	0.005051	0.002717	0.000000	0.000000	0.000000	0.000000	0.000000	0.05	1048.43	144	chr2	157430559	.	G	A	1048.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.22;DP=458;ExcessHet=0;FS=5.495;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=7.28;ReadPosRankSum=-1.155;SOR=0.375	GT:AD:DP:GQ:PL	0/1:97,47:144:99:1060,0,2251	9	0	1	0
chr2	159229846	159229846	A	G	exonic	TANC1	.	nonsynonymous SNV	TANC1:NM_001350062:exon24:c.A3817G:p.T1273A,TANC1:NM_001350063:exon25:c.A4051G:p.T1351A,TANC1:NM_001350064:exon27:c.A4399G:p.T1467A,TANC1:NM_033394:exon27:c.A4420G:p.T1474A,TANC1:NM_001350065:exon28:c.A4399G:p.T1467A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.138	0.0285616019597	.	.	8.295e-06	0	0	0	0	0	0	6.06e-05	6.5e-06	1	154602	rs760067178	6.157e-06	6.156e-06	4.084e-06	8.251e-06	1.159e-05	2.9e-06	2.1e-06	1.94e-06	1.28e-06	0	0	0	0	0	0	5.396e-06	3.312e-05	1.159e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.543	0.06735	T	0.896	0.03082	T	0.0	0.02946	B	0.0	0.01387	B	0.751978	0.09693	N	0.908929	1	0.08975	N	1.04	0.26193	L	-0.3	0.67874	T	-0.65	0.18877	N	0.042	0.01498	-1.0805	0.07252	T	0.104	0.38094	T	9	0.036940455	0.02019	T	0.028562	0.51215	D	0.138	0.37187	0.17	0.07536	0.152612264143	0.14878	0.15576892182136914	0.15497	0.143694538918	0.16225	0.242814078927	0.03049	T	0.058638	0.30898	T	-0.358213	0.04232	T	-0.570797	0.15377	T	0.0254992627054321	0.01339	T	0.49795	0.15494	T	0.031150103	0.02903	0.025660953	0.00620	0.031150103	0.02903	0.025660953	0.00619	-3.011	0.10300	T	.	.	0.056	0.00436	B	.	.	-0.843639	0.01024	0.043	0.22884852441160536	0.00942	0.04834	0.10563	N	AEFDBI	0.032277	0.03612	N	-1.41236893618702	0.02529	0.1118093	-1.54715018783421	0.01995	0.09116643	0.999999999992419	0.74766	0.67177	0.52595	0	0.547309	0.14657	0	0.658983	0.55881	0	0.711	0.71501	0	.	.	5.89	-11.8	0.00026	-0.409000	0.07223	-1.284000	0.05818	0.756000	0.94297	0.000000	0.06391	0.000000	0.08366	0.032000	0.13371	0.095:0.4817:0.2929:0.1304	7.012	0.24044	652	0.62785	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1	3069.14	142	chr2	159229846	.	A	G	3069.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=1.91;DP=553;ExcessHet=0.2348;FS=9.831;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=11.76;ReadPosRankSum=1.63;SOR=1.208	GT:AD:DP:GQ:PL	0/1:69,73:142:99:1971,0,1818	8	0	2	0
chr2	160137782	160137782	C	T	exonic	ITGB6	.	nonsynonymous SNV	ITGB6:NM_001282354:exon8:c.G1027A:p.V343M,ITGB6:NM_001282388:exon9:c.G1186A:p.V396M,ITGB6:NM_001282390:exon9:c.G898A:p.V300M,ITGB6:NM_000888:exon10:c.G1312A:p.V438M,ITGB6:NM_001282355:exon10:c.G1312A:p.V438M,ITGB6:NM_001282389:exon10:c.G1093A:p.V365M,ITGB6:NM_001282353:exon11:c.G1312A:p.V438M	Amelogenesis imperfecta, type IH, Autosomal recessive	427	1025	62	8	0	78	0.0366541	.	.	.	707793	not_provided|Amelogenesis_imperfecta_type_1H	MedGen:C3661900|MONDO:MONDO:0014540,MedGen:C4015557,OMIM:616221,Orphanet:88661	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.509	.	0.0043	0.00658946	0.0089	0.0014	0.0035	0.0001	0.0012	0.0079	0.0166	0.0287	0.0082793	1280	154602	rs61737764	0.0059	0.0059	0.0051	0.0068	0.0286	0.0058	0.0058	0.0276	0.0273	0.0011	0.0030	0.0084	0.0001	0.0015	0.0277	0.0046	0.0070	0.0286	0.0043	0.0043	0.0039	0.0047	0.0249	0.0040	0.0039	0.0213	0.0199	0.0008	0.0033	0.0032	0.0066	0.0006	0.0012	0.0238	0.0057	0.0071	0.0249	0.003	0.68238	D	0.011	0.74150	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	0.999998	0.58761	D	3.345	0.91022	M	-0.45	0.69896	T	-1.8	0.45042	N	0.297	0.34228	0.169	0.85386	D	0.481	0.80170	T	10	0.012100965	0.00261	T	.	.	.	0.509	0.78910	.	.	0.697297187285	0.69468	0.6160951086029223	0.61541	0.0810200920857	0.09117	0.485046923161	0.36752	T	0.771974	0.93904	D	-0.196078	0.21371	T	-0.0327995	0.68183	D	0.0909153406964552	0.11326	T	0.910609	0.69499	D	0.5046076	0.67364	0.3403883	0.59791	0.44955823	0.64013	0.3403883	0.59791	-6.427	0.49884	T	0.7321340703552297	0.81385	0.195	0.41541	B	.;.;.;.;.	.;.;.;.;.	4.120538	0.61586	24.4	0.99910961825783051	0.98022	0.97108	0.72736	D	AEFBI	0.604412	0.59552	D	0.80083389169006	0.86157	8.796558	0.733918385953222	0.84951	8.437762	0.999999989802394	0.74766	0.487112	0.14033	0	0.563428	0.19063	0	0.573078	0.19857	0	0.564101	0.26826	0	.	.	5.2	5.2	0.71720	3.374000	0.52132	4.071000	0.41665	0.599000	0.40250	0.996000	0.39380	0.999000	0.35428	0.997000	0.79791	0.0:1.0:0.0:0.0	19.113	0.93310	419	0.81524	Integrin beta subunit, VWA domain;Integrin beta subunit, VWA domain;Integrin beta subunit, VWA domain;.;Integrin beta subunit, VWA domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.020645	0.000000	0.023098	0.014620	0.000000	0.043103	0.036585	0.018939	0.1	3041.14	125	chr2	160137782	.	C	T	3041.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=0.79;DP=513;ExcessHet=0.2348;FS=3.915;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=13.17;ReadPosRankSum=0.834;SOR=0.961	GT:AD:DP:GQ:PL	0/1:65,60:125:99:1636,0,1705	8	0	2	0
chr2	169875919	169875919	A	C	exonic	UBR3	.	nonsynonymous SNV	UBR3:NM_172070:exon3:c.A814C:p.N272H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.183	0.0185776572275	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.445e-06	1.368e-06	1.424e-06	1.466e-06	.	2.4e-07	9e-08	.	.	0	0	0	0	2.044e-05	0	0	1.742e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.015	0.52492	D	0.03	0.54159	D	0.567	0.38485	P	0.332	0.42135	B	.	.	.	.	0.702419	0.30091	N	0.975	0.24501	L	0.4	0.57261	T	-2.7	0.57599	D	0.269	0.30574	-1.0183	0.24269	T	0.134	0.44720	T	9	0.21793261	0.38420	T	0.018578	0.40690	T	0.183	0.45592	0.41	0.44559	0.110392049598	0.10638	0.5373335498507179	0.53658	1.45782429626	0.86289	0.667162716389	0.62433	T	0.278712	0.65137	T	-0.100098	0.36408	T	-0.381561	0.35541	T	0.91964054107666	0.57843	D	0.941106	0.78031	D	0.16316369	0.36439	0.19743982	0.43526	0.16316369	0.36439	0.19743982	0.43525	-5.085	0.37748	T	.	.	0.165	0.36653	B	.;.	.;.	4.310857	0.65896	24.9	0.99628451470282542	0.75898	0.99129	0.91652	D	AEFBI	0.702884	0.65910	D	0.116038185299455	0.47212	2.949998	0.20596357688075	0.50179	3.212603	0.999868832723293	0.44398	0.732398	0.92422	0	0.633656	0.55848	0	0.658983	0.55881	0	0.727631	0.95156	0	.	.	5.22	4.06	0.46572	7.036000	0.76250	11.153000	0.87408	0.691000	0.84096	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.9258:0.0:0.0742:0.0	10.995	0.46786	701	0.57775	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	284.43	39	chr2	169875919	.	A	C	284.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.314;DP=280;ExcessHet=0;FS=2.886;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=7.29;ReadPosRankSum=0.937;SOR=0.83	GT:AD:DP:GQ:PL	0/1:25,14:39:99:296,0,630	9	0	1	0
chr2	186504215	186504215	G	A	splicing	ZC3H15	NM_018471:exon6:c.717+1G>A	.	.	.	.	.	.	.	.	.	.	1.0000	0.934	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	.	.	.	.	.	.	Uncertain significance	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.25	443.45	47	chr2	186504215	.	G	A	443.45	.	AC=4;AF=0.25;AN=16;BaseQRankSum=1.62;DP=389;ExcessHet=10.4813;FS=166.33;InbreedingCoeff=-0.578;MLEAC=5;MLEAF=0.313;MQ=60;MQRankSum=0;QD=1.83;ReadPosRankSum=1.57;SOR=8.585	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:31,9:47:6:.:.:6,0,411:.	4	0	4	2
chr2	188584344	188584344	C	T	exonic	GULP1	.	nonsynonymous SNV	GULP1:NM_001252669:exon7:c.C380T:p.S127L,GULP1:NM_001375947:exon8:c.C551T:p.S184L,GULP1:NM_001375944:exon9:c.C551T:p.S184L,GULP1:NM_001375945:exon9:c.C551T:p.S184L,GULP1:NM_001375946:exon9:c.C551T:p.S184L,GULP1:NM_001375950:exon9:c.C551T:p.S184L,GULP1:NM_001375952:exon9:c.C842T:p.S281L,GULP1:NM_001252668:exon10:c.C689T:p.S230L,GULP1:NM_001375925:exon10:c.C689T:p.S230L,GULP1:NM_001375928:exon10:c.C689T:p.S230L,GULP1:NM_001375930:exon10:c.C689T:p.S230L,GULP1:NM_001375931:exon10:c.C689T:p.S230L,GULP1:NM_001375935:exon10:c.C914T:p.S305L,GULP1:NM_001375937:exon10:c.C914T:p.S305L,GULP1:NM_016315:exon10:c.C689T:p.S230L,GULP1:NM_001375926:exon11:c.C689T:p.S230L,GULP1:NM_001375927:exon11:c.C689T:p.S230L,GULP1:NM_001375929:exon11:c.C689T:p.S230L,GULP1:NM_001375932:exon11:c.C914T:p.S305L,GULP1:NM_001375933:exon11:c.C914T:p.S305L,GULP1:NM_001375936:exon11:c.C914T:p.S305L,GULP1:NM_001375938:exon11:c.C914T:p.S305L,GULP1:NM_001375948:exon11:c.C914T:p.S305L,GULP1:NM_001375953:exon11:c.C800T:p.S267L,GULP1:NM_001375934:exon12:c.C914T:p.S305L,GULP1:NM_001375939:exon12:c.C914T:p.S305L,GULP1:NM_001375940:exon12:c.C938T:p.S313L,GULP1:NM_001375943:exon12:c.C938T:p.S313L,GULP1:NM_001375949:exon12:c.C914T:p.S305L,GULP1:NM_001375941:exon13:c.C938T:p.S313L,GULP1:NM_001375942:exon13:c.C938T:p.S313L,GULP1:NM_001375951:exon13:c.C854T:p.S285L	.	437	1071	14	0	0	14	0.00649351	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.037	0.0146900387154	.	0.000798722	0.0012	0	8.639e-05	0	0	8.991e-05	0	0.0087	0.0010155	157	154602	rs537795313	0.0007	0.0007	0.0004	0.0010	0.0093	0.0007	0.0006	0.0087	0.0085	3.002e-05	2.237e-05	0	2.525e-05	1.873e-05	0.0012	0.0001	0.0008	0.0093	0.0004	0.0004	0.0002	0.0008	0.0110	0.0004	0.0003	0.0086	0.0078	2.407e-05	0	6.542e-05	0	0	0	0	0.0002	0.0005	0.0110	0.221	0.18889	T	0.721	0.13595	T	0.103	0.25884	B	0.01	0.14941	B	0.022385	0.26643	N	0.419660	0.998374	0.22713	N	1.39	0.34934	L	0.82	0.48142	T	-1.32	0.32991	N	0.356	0.47765	-1.0672	0.10039	T	0.071	0.29001	T	10	0.0039662123	0.00076	T	0.01469	0.34971	T	0.037	0.09474	.	.	0.187035705434	0.18338	0.2560688191472904	0.25520	0.161690706144	0.18250	0.295183449984	0.09685	T	0.086481	0.37734	T	-0.495672	0.00605	T	-0.47781	0.24680	T	0.0300649500654145	0.01999	T	0.906609	0.67446	D	0.043752275	0.06875	0.051814113	0.08414	0.043752275	0.06874	0.051814113	0.08414	-5.205	0.43470	T	.	.	0.067	0.05535	B	.;.;.;.;.;.	.;.;.;.;.;.	2.740033	0.35886	20.1	0.9764757815393369	0.35120	0.90360	0.51474	D	AEFBI	0.456351	0.50825	N	-0.65918347732356	0.17193	0.8826366	-0.565134493956244	0.20405	1.099191	0.20531447057572	0.18173	0.706298	0.61202	0	0.573888	0.26702	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	5.62	3.84	0.43422	4.035000	0.57007	3.212000	0.36806	-0.177000	0.10537	0.981000	0.35396	0.968000	0.29604	0.414000	0.27095	0.0:0.8003:0.1297:0.0701	10.947	0.46522	819	0.41190	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.05	1674.43	165	chr2	188584344	.	C	T	1674.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.52;DP=513;ExcessHet=0;FS=2.804;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.15;ReadPosRankSum=1.05;SOR=0.942	GT:AD:DP:GQ:PL	0/1:96,69:165:99:1686,0,2147	9	0	1	0
chr2	189467542	189467542	G	A	exonic	WDR75	.	nonsynonymous SNV	WDR75:NM_032168:exon14:c.G1522A:p.E508K,WDR75:NM_001303096:exon15:c.G1330A:p.E444K	.	438	1083	1	0	0	1	0.000461467	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.236	0.0104319385265	7.7e-05	.	7.428e-05	0	8.67e-05	0.0001	0	6.004e-05	0	0.0002	6.47e-05	10	154602	rs371434035	9.594e-05	9.645e-05	9.408e-05	9.782e-05	0.0003	8.257e-05	7.796e-05	0.0002	0.0002	2.998e-05	0.0001	0	5.053e-05	0	0.0003	8.464e-05	0.0002	0.0003	6.573e-05	6.567e-05	8.997e-05	4.036e-05	0.0001	3.518e-05	2.617e-05	6.804e-05	5.088e-05	2.414e-05	0	0	0	0	0	0	0.0001	0	0	0.071	0.35165	T	0.128	0.34959	T	0.994	0.66517	D	0.664	0.52930	P	0.000000	0.84330	D	0.048377	0.999999	0.58761	D	2.075	0.57047	M	3.61	0.04446	T	-1.56	0.37759	N	0.608	0.62526	-1.2087	0.00096	T	0.033	0.14290	T	10	0.41242692	0.56315	T	0.010432	0.26958	T	0.236	0.53931	.	.	0.082315109003	0.07666	0.5426403694625328	0.54190	0.656936052451	0.58672	0.779460549355	0.78846	T	0.066445	0.32947	T	-0.214095	0.18807	T	-0.25316	0.49505	T	0.487610876560211	0.32176	T	0.966403	0.87711	D	0.32644284	0.55177	0.28607717	0.54614	0.32644284	0.55177	0.28607717	0.54613	-5.586	0.42664	T	.	.	0.258	0.49304	B	.	.	5.337524	0.89559	30	0.99906605421935191	0.97726	0.98420	0.82592	D	AEFBI	0.764801	0.70148	D	0.694110279624865	0.79248	7.03751	0.739779186167987	0.85392	8.566762	0.999999999996598	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.86	5.86	0.93936	6.776000	0.74817	11.647000	0.93845	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.0:0.0:1.0:0.0	20.563	0.99337	628	0.65206	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	976.43	85	chr2	189467542	.	G	A	976.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.3;DP=417;ExcessHet=0;FS=2.866;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.49;ReadPosRankSum=-0.757;SOR=0.806	GT:AD:DP:GQ:PL	0/1:45,40:85:99:988,0,1011	9	0	1	0
chr2	197523648	197523648	T	C	exonic	HSPE1-MOB4;MOB4	.	nonsynonymous SNV	MOB4:NM_015387:exon2:c.T85C:p.S29P,HSPE1-MOB4:NM_001202485:exon3:c.T193C:p.S65P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.267	0.00959765325218	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.265e-05	0.0013	8.89e-05	9.642e-05	0.0001	7.932e-05	7.455e-05	9.055e-05	8.505e-05	3.135e-05	0	0.0001	0	0	0	0.0001	8.651e-05	8.389e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	0.579	0.08535	T	0.0	0.02946	B	0.001	0.04355	B	0.000000	0.84330	D	0.053972	0.999993	0.81001	D	-1.795	0.00292	N	.	.	.	1.18	0.01107	N	0.438	0.48042	-0.9766	0.35772	T	0.034	0.14813	T	9	0.10651526	0.19742	T	0.009598	0.25107	T	0.267	0.58126	0.341	0.33302	0.043077524339	0.03247	0.669975451478545	0.66935	1.34794577022	0.84014	0.778468906879	0.78697	T	0.055673	0.30073	T	0.0500577	0.58352	T	-0.165872	0.57820	T	0.811242938041687	0.47136	D	0.892711	0.63097	D	0.20700711	0.42893	0.20881961	0.45200	0.20700711	0.42893	0.20881961	0.45199	-0.876	0.00872	T	.	.	0.084	0.09820	B	.;.	.;.	3.297964	0.45264	22.1	0.8980768734361223	0.19119	0.98559	0.84088	D	AEFBI	0.838587	0.75609	D	-0.516315308048682	0.21553	1.144632	-0.200201322439165	0.31530	1.785231	0.986724794269661	0.31114	0.732398	0.92422	0	0.724815	0.89359	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	5.02	5.02	0.66742	5.652000	0.67632	7.608000	0.61804	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:0.0:1.0	14.399	0.66596	474	0.77851	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4286	1527.34	112	chr2	197523648	.	T	C	1527.34	.	AC=6;AF=0.429;AN=14;BaseQRankSum=-1.265;DP=605;ExcessHet=4.5998;FS=381.692;InbreedingCoeff=-0.601;MLEAC=7;MLEAF=0.5;MQ=60;MQRankSum=0;QD=3.23;ReadPosRankSum=1.14;SOR=10.505	GT:AD:DP:GQ:PL	0/1:63,49:112:99:488,0,1017	1	0	6	3
chr2	205723842	205723842	C	T	exonic	NRP2	.	nonsynonymous SNV	NRP2:NM_003872:exon5:c.C722T:p.S241L,NRP2:NM_018534:exon5:c.C722T:p.S241L,NRP2:NM_201264:exon5:c.C722T:p.S241L,NRP2:NM_201266:exon5:c.C722T:p.S241L,NRP2:NM_201267:exon5:c.C722T:p.S241L,NRP2:NM_201279:exon5:c.C722T:p.S241L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.226	0.0134727881014	.	0.000199681	8.268e-06	9.681e-05	0	0	0	0	0	0	1.29e-05	2	154602	rs563060469	7.525e-06	7.524e-06	6.806e-06	8.25e-06	9.892e-06	4.04e-06	2.95e-06	5.31e-06	3.88e-06	0	0	0	0	0	0	9.892e-06	0	0	1.313e-05	1.312e-05	1.284e-05	1.343e-05	2.405e-05	2.18e-06	8.2e-07	.	.	2.405e-05	0	0	0	0	0	0	1.47e-05	0	0	0.017	0.51248	D	0.17	0.47336	T	0.805	0.61118	P	0.232	0.59116	B	0.000124	0.49741	D	0.216109	0.996668	0.43340	D	1.685	0.43254	L	2.14	0.19450	T	-2.04	0.47008	N	0.401	0.44187	-1.0736	0.08639	T	0.124	0.42736	T	10	0.27867466	0.45438	T	0.013473	0.32898	T	0.226	0.52472	0.547	0.66156	0.660312480537	0.65746	0.43000235512231394	0.42917	0.315069041011	0.33789	0.498960494995	0.38683	T	0.121255	0.44409	T	-0.23325	0.16221	T	-0.391296	0.34400	T	0.570491313934326	0.35253	D	0.931507	0.90777	D	0.2108318	0.43391	0.34098762	0.59844	0.2108318	0.43391	0.34098762	0.59843	-12.447	0.87010	D	.	.	0.108	0.36436	B	.;.;.;.;.;.	.;.;.;.;.;.	5.386420	0.90253	31	0.99913782345497637	0.98238	0.95415	0.64630	D	AEFBI	0.678985	0.64317	D	0.492042069422919	0.66623	4.974263	0.463287742726544	0.65576	4.841095	0.999999999996726	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	6.170000	0.71810	4.894000	0.45793	0.596000	0.33519	0.981000	0.35396	1.000000	0.68203	0.542000	0.29985	0.0:1.0:0.0:0.0	20.296	0.98558	861	0.33516	CUB domain|CUB domain|CUB domain|CUB domain;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	2026.43	161	chr2	205723842	.	C	T	2026.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.41;DP=471;ExcessHet=0;FS=2.759;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.59;ReadPosRankSum=-0.445;SOR=0.503	GT:AD:DP:GQ:PL	0/1:83,78:161:99:2038,0,2030	9	0	1	0
chr2	206028142	206028142	C	T	exonic	INO80D	.	nonsynonymous SNV	INO80D:NM_017759:exon6:c.G1267A:p.E423K	.	431	1090	1	0	0	1	0.000458505	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.346	0.0649719686952	.	.	0	0	0	0	0	0	0	0	3.84e-05	1	26028	rs765050811	7.817e-06	7.524e-06	4.211e-06	1.151e-05	0.0006	4.2e-06	3.07e-06	0.0002	8.955e-05	0	0	0	0	0	0.0006	4.615e-06	0	3.736e-05	1.97e-05	1.969e-05	1.285e-05	2.685e-05	2.94e-05	5.24e-06	2.45e-06	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.94e-05	0.0005	0	0.096	0.31088	T	0.427	0.30631	T	0.996	0.68779	D	0.99	0.78936	D	0.000162	0.48594	N	0.209814	0.999793	0.49177	D	1.555	0.39373	L	-1.2	0.78537	T	-0.96	0.25551	N	0.279	0.31590	-0.3387	0.73881	T	0.428	0.77068	T	10	0.2650975	0.44003	T	0.064972	0.69439	D	0.346	0.66769	0.382	0.39970	0.27715347029	0.27323	0.37718324947553705	0.37633	0.409882801041	0.41793	0.622163772583	0.56034	T	.	.	.	0.0358635	0.56501	T	-0.186261	0.55939	T	0.655664915879156	0.38707	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.215	0.44475	B	.;.	.;.	3.358818	0.46356	22.3	0.99395537614506102	0.62565	0.95397	0.64560	D	AEFDBHI	0.505967	0.53689	D	-0.10177369008896	0.37316	2.16923	-0.165535910960763	0.32814	1.870682	0.999897000117707	0.45129	0.651	0.46895	0	0.653731	0.59785	0	0.65145	0.50148	0	0.635551	0.53088	0	.	.	5.45	4.58	0.56077	4.577000	0.60633	5.939000	0.51448	-0.230000	0.07744	1.000000	0.71638	1.000000	0.68203	0.008000	0.08271	0.0:0.9289:0.0:0.0711	14.477	0.67130	787	0.46738	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	3552.43	277	chr2	206028142	.	C	T	3552.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.666;DP=590;ExcessHet=0;FS=1.436;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.82;ReadPosRankSum=1.22;SOR=0.801	GT:AD:DP:GQ:PL	0/1:140,137:277:99:3564,0,3778	9	0	1	0
chr2	219609402	219609402	C	T	exonic	STK11IP	.	nonsynonymous SNV	STK11IP:NM_052902:exon17:c.C1966T:p.R656W	.	425	1083	14	0	0	14	0.00642202	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.088	0.0103774389607	0.0003	0.00139776	0.0010	0	0.0008	0	0	0.0006	0	0.0042	0.0008667	134	154602	rs138178069	0.0006	0.0006	0.0005	0.0007	0.0078	0.0006	0.0006	0.0060	0.0054	0.0003	0.0010	0.0013	2.519e-05	3.757e-05	0.0078	0.0003	0.0011	0.0036	0.0006	0.0006	0.0005	0.0007	0.0035	0.0005	0.0004	0.0022	0.0018	0.0001	0	0.0012	0.0003	0	0	0.0068	0.0007	0.0005	0.0035	0.01	0.56456	D	0.001	0.83351	D	.	.	.	.	.	.	0.368670	0.04349	N	1.472120	1	0.08975	N	.	.	.	3.42	0.05507	T	-2.35	0.51968	N	0.113	0.10056	-0.9723	0.36712	T	0.019	0.07800	T	10	0.004674673	0.00098	T	0.010377	0.26850	T	0.088	0.25558	.	.	0.168933306366	0.16529	0.3942372021576567	0.39338	.	.	0.252693235874	0.04056	T	.	.	.	-0.592208	0.00162	T	-0.624598	0.10828	T	0.0268030799867487	0.01516	T	0.59464	0.22023	T	0.06531138	0.13945	0.0512048	0.08193	0.06531138	0.13945	0.0512048	0.08192	-7.106	0.54804	T	.	.	0.093	0.14201	B	.	.	2.465700	0.31770	18.84	0.99702856217893709	0.80729	0.02454	0.06901	N	AEFDBI	0.071413	0.14215	N	-0.483937549412463	0.22607	1.208	-0.642197718217624	0.18413	0.9835654	0.953359575416739	0.28069	0.706298	0.61202	0	0.653731	0.59785	0	0.709663	0.75317	0	0.635551	0.53088	0	.	.	5.1	0.72	0.17368	-0.187000	0.09652	1.423000	0.26381	0.599000	0.40250	0.000000	0.06391	0.005000	0.19230	0.010000	0.09038	0.3339:0.3531:0.313:0.0	6.992	0.23940	147	0.94143	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.004541	0.005051	0.010870	0.000000	0.000000	0.000000	0.000000	0.003817	0.1	2642.14	88	chr2	219609402	.	C	T	2642.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=0.559;DP=469;ExcessHet=0.2348;FS=1.153;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=14.13;ReadPosRankSum=2.89;SOR=0.589	GT:AD:DP:GQ:PL	0/1:45,43:88:99:1107,0,1110	8	0	2	0
chr2	227702192	227702192	C	T	exonic	SLC19A3	.	nonsynonymous SNV	SLC19A3:NM_001371411:exon2:c.G127A:p.D43N,SLC19A3:NM_001371412:exon2:c.G127A:p.D43N,SLC19A3:NM_025243:exon2:c.G127A:p.D43N	Thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive encephalopathy type 2), Autosomal recessive	7	1512	3	0	0	3	0.00099108	.	.	YES	1447364	Biotin-responsive_basal_ganglia_disease	MONDO:MONDO:0011841,MedGen:C1843807,OMIM:607483,Orphanet:199348,Orphanet:65284	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.365	0.0183954320417	.	.	1.648e-05	0	0	0	0	2.997e-05	0	0	1.29e-05	2	154602	rs773678018	1.779e-05	1.779e-05	1.634e-05	1.925e-05	0.0002	1.238e-05	1.051e-05	1.295e-05	1.106e-05	0	0	0	0	0	0.0002	1.979e-05	1.656e-05	2.319e-05	1.316e-05	1.314e-05	0	2.695e-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	0.348	0.36709	T	0.844	0.20293	T	0.936	0.52359	P	0.809	0.58564	P	0.016225	0.28032	N	0.428263	0.602704	0.32552	D	1.78	0.46185	L	-2.1	0.86146	D	-2.4	0.65171	N	0.115	0.10340	0.225	0.86331	D	0.677	0.88814	D	10	0.19764277	0.35703	T	0.018395	0.40451	T	0.365	0.68495	.	.	0.841838749297	0.84033	0.31028645597002297	0.30941	0.0630273627958	0.07016	0.318546205759	0.13201	T	0.512581	0.82797	D	-0.225927	0.17190	T	-0.465451	0.26008	T	0.259653389453888	0.23299	T	0.890911	0.62511	D	0.056990143	0.11285	0.069916554	0.14791	0.056990143	0.11284	0.069916554	0.14790	-8.047	0.61390	D	0.3012794536031477	0.39864	0.066	0.14339	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	1.761980	0.22409	15.61	0.98819507633656245	0.46753	0.18047	0.20097	N	AEFBI	0.182842	0.31017	N	-0.316611926727319	0.28517	1.573568	-0.471384491610244	0.22946	1.248883	0.0010446841481125	0.08159	0.615465	0.37627	0	0.59043	0.45803	0	0.658983	0.55881	0	0.564101	0.26826	0	.	.	5.67	1.57	0.22490	-0.246000	0.08896	-0.105000	0.11895	-0.181000	0.10308	0.001000	0.13787	0.000000	0.08366	0.986000	0.61781	0.0:0.6696:0.137:0.1934	8.034	0.29643	538	0.73119	.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	3656.43	248	chr2	227702192	.	C	T	3656.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=3.36;DP=572;ExcessHet=0;FS=0.482;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.74;ReadPosRankSum=-0.823;SOR=0.639	GT:AD:DP:GQ:PL	0/1:118,130:248:99:3668,0,2978	9	0	1	0
chr2	231460686	231460688	TCC	-	exonic	NCL	.	nonframeshift deletion	NCL:NM_005381:exon4:c.792_794del:p.E271del	.	403	1114	5	0	0	5	0.00223914	.	.	.	719700	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	.	.	0.0166	.	0.0042	0.0209	0.0023	0.0043	0.0041	0.0019	0.0011	0.0043	0.0008452	22	26028	rs199829854	0.0023	0.0023	0.0023	0.0023	0.0212	0.0022	0.0022	0.0199	0.0194	0.0212	0.0025	0.0013	0.0025	0.0053	0.0029	0.0014	0.0030	0.0040	0.0072	0.0072	0.0071	0.0074	0.0201	0.0069	0.0067	0.0189	0.0185	0.0201	0	0.0036	0.0023	0.0022	0.0035	0	0.0018	0.0076	0.0026	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.005699	0.015152	0.001359	0.013986	0.000000	0.000000	0.009146	0.000000	0.05	2490.39	126	chr2	231460685	.	TTCC	T	2490.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.945;DP=467;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=19.77;ReadPosRankSum=0.588;SOR=0.691	GT:AD:DP:GQ:PL	0/1:61,65:126:99:2502,0,2326	9	0	1	0
chr2	232847515	232847515	C	0	exonic	GIGYF2	.	.	.	.	20	155	23	3	25	54	0.0855457	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	4064.42	129	chr2	232847515	.	C	*	4064.42	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.04;DP=909;ExcessHet=0.7463;FS=0.395;InbreedingCoeff=-0.1765;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.68;ReadPosRankSum=2.25;SOR=0.731	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:78,51:129:99:.:.:1911,0,3107:.	9	0	1	0
chr2	232847516	232847519	CACA	0	exonic	GIGYF2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	14648.5	129	chr2	232847516	.	CACA	*	14648.5	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.244;DP=958;ExcessHet=0.3701;FS=2.618;InbreedingCoeff=0.1667;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=22.06;ReadPosRankSum=0.109;SOR=0.931	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:78,51:129:99:.:.:1911,0,3107:.	9	0	1	0
chr2	232847517	232847517	A	0	exonic	GIGYF2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4	4156.0	117	chr2	232847517	.	A	*	4156.0	.	AC=8;AF=0.4;AN=20;BaseQRankSum=0.101;DP=939;ExcessHet=0.3131;FS=1.955;InbreedingCoeff=0.2;MLEAC=8;MLEAF=0.4;MQ=60;MQRankSum=0;QD=5.36;ReadPosRankSum=0.509;SOR=0.894	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:63,51:117:99:.:.:1919,0,2952:.	4	2	4	0
chr2	237818174	237818174	A	G	exonic	RBM44	.	nonsynonymous SNV	RBM44:NM_001080504:exon3:c.A1255G:p.R419G	.	428	1085	9	0	0	9	0.00413034	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.083	.	0.0074	0.00319489	0.0074	0.0010	0.0057	0.0001	0.0107	0.0100	0.0079	0.0043	0.0073608	1138	154602	rs78856938	0.0090	0.0090	0.0091	0.0089	0.0103	0.0089	0.0088	0.0101	0.0101	0.0015	0.0055	0.0066	5.042e-05	0.0101	0.0007	0.0103	0.0073	0.0035	0.0067	0.0067	0.0073	0.0061	0.0107	0.0064	0.0062	0.0100	0.0098	0.0017	0	0.0066	0.0072	0	0.0073	0.0034	0.0107	0.0061	0.0017	0.033	0.44358	D	0.033	0.53072	D	.	.	.	.	.	.	0.557893	0.05407	N	1.207380	1	0.08975	N	.	.	.	1.64	0.27822	T	-2.74	0.58248	D	0.248	0.28028	-1.0113	0.26510	T	0.057	0.24130	T	10	0.004121512	0.00081	T	.	.	.	0.083	0.24192	.	.	0.288727942641	0.28479	0.26506181418010577	0.26419	0.0554052281764	0.06130	0.224131345749	0.01562	T	.	.	.	-0.526374	0.00404	T	-0.515903	0.20711	T	0.0254576256771325	0.01332	T	0.547445	0.18775	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.085	0.16363	B	.;.	.;.	1.144477	0.15318	11.76	0.98642354910000662	0.44069	0.11084	0.16397	N	ALL	0.119406	0.23307	N	-0.417757872193886	0.24846	1.344522	-0.471467044376923	0.22944	1.248745	1.0	0.98316	0.554377	0.28877	0	0.588066	0.40923	0	0.491513	0.07944	0	0.421255	0.06892	1	.	.	5.86	4.72	0.59248	2.159000	0.41965	0.812000	0.21762	0.691000	0.84096	0.006000	0.17386	0.000000	0.08366	0.044000	0.14658	0.9122:0.0:0.0878:0.0	8.325	0.31312	982	0.03397	.;.	.	.	.	.	rs78856938	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002518	0.000000	0.004076	0.000000	0.000000	0.000000	0.000000	0.007576	0.05	1967.43	167	chr2	237818174	.	A	G	1967.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-3.998;DP=487;ExcessHet=0;FS=2.704;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.78;ReadPosRankSum=2.2;SOR=0.66	GT:AD:DP:GQ:PL	0/1:90,77:167:99:1979,0,2786	9	0	1	0
chr2	238131223	238131223	G	A	exonic	ESPNL	.	nonsynonymous SNV	ESPNL:NM_001308370:exon4:c.G1405A:p.E469K,ESPNL:NM_194312:exon9:c.G2509A:p.E837K	.	423	1096	3	0	0	3	0.00136674	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.487	0.386112467172	0.0026	0.000798722	0.0049	0.0036	0	0	0	0.0092	0	0.0024	0.0021086	326	154602	rs202227187	0.0052	0.0050	0.0053	0.0050	0.0062	0.0051	0.0050	0.0061	0.0060	0.0006	0.0011	3.969e-05	5.494e-05	0.0007	0.0016	0.0062	0.0042	0.0021	0.0025	0.0025	0.0029	0.0022	0.0047	0.0023	0.0022	0.0042	0.0041	0.0008	0.0022	0.0013	0	0	0.0003	0	0.0047	0.0024	0.0010	0.004	0.68238	D	0.004	0.74150	D	1.0	0.90584	D	0.994	0.86255	D	0.000003	0.62929	D	0.000000	0.999998	0.58761	D	2.695	0.78878	M	-1.18	0.78314	T	-2.44	0.58085	N	0.481	0.61596	0.343	0.88233	D	0.613	0.86305	D	10	0.009151846	0.00207	T	0.386112	0.93083	D	0.487	0.77528	.	.	0.695568829229	0.69294	0.5908588341447731	0.59015	0.59926212297	0.55057	0.80596268177	0.82873	D	0.178069	0.52859	T	-0.20081	0.20688	T	-0.0598591	0.66342	T	0.0175946835829227	0.00492	T	0.856014	0.55864	D	0.42831188	0.62642	0.37696317	0.62806	0.42831188	0.62642	0.37696317	0.62806	-11.478	0.82215	D	.	.	0.499	0.72553	A	.;.;.	.;.;.	5.021699	0.83459	28.0	0.99928207888240472	0.99222	0.95717	0.65855	D	AEFDBCI	0.857632	0.77503	D	0.670199087684856	0.77681	6.721703	0.613668558625006	0.75933	6.398788	0.999999999999431	0.74766	0.554377	0.28877	0	0.588066	0.40923	0	0.603688	0.36954	0	0.562822	0.20929	0	.	.	4.72	4.72	0.59248	3.712000	0.54603	11.356000	0.92581	0.614000	0.49286	1.000000	0.71638	1.000000	0.68203	0.938000	0.47775	0.0:0.0:1.0:0.0	16.476	0.83976	969	0.06854	.;.;.	.	.	.	.	.	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	0.002058	0.000000	0.004167	0.000000	0.000000	0.000000	0.000000	0.000000	0.05	1071.43	92	chr2	238131223	.	G	A	1071.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.29;DP=732;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.65;ReadPosRankSum=-1.964;SOR=0.752	GT:AD:DP:GQ:PL	0/1:50,42:92:99:1083,0,1079	9	0	1	0
chr2	238250647	238250647	C	T	exonic	PER2	.	nonsynonymous SNV	PER2:NM_022817:exon21:c.G3371A:p.S1124N	Advanced sleep phase syndrome, familial, 1, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.013	0.00610822403344	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.35	0.12305	T	0.571	0.08777	T	0.005	0.12996	B	0.011	0.15521	B	0.011634	0.29459	N	0.426017	1	0.08975	N	1.48	0.37141	L	2.54	0.13916	T	-0.72	0.20358	N	0.138	0.13626	-0.9943	0.31485	T	0.025	0.10910	T	10	0.05125618	0.04978	T	0.006108	0.15993	T	0.013	0.01715	0.246	0.18139	0.226560886239	0.22246	0.13196455952671488	0.13121	0.218113596429	0.24345	0.278576016426	0.07295	T	0.056371	0.30269	T	-0.353524	0.04510	T	-0.745589	0.03661	T	0.106642499566078	0.13072	T	0.719828	0.33277	T	0.1825035	0.39472	0.12324934	0.29721	0.1825035	0.39472	0.12324934	0.29720	-3.093	0.11216	T	.	.	0.075	0.05317	B	.	.	0.569553	0.09383	6.161	0.76394542658444531	0.11450	0.32210	0.24529	N	AEFBCI	0.166953	0.29358	N	-0.868524319008705	0.11597	0.5605078	-0.888586244243694	0.12363	0.6355526	0.996883407970987	0.35088	0.615465	0.37627	0	0.577304	0.33150	0	0.658983	0.55881	0	0.567892	0.33627	0	.	.	4.62	2.78	0.31702	1.165000	0.31432	1.648000	0.27829	0.599000	0.40250	0.000000	0.06391	0.002000	0.18203	0.055000	0.15596	0.0:0.7574:0.1543:0.0884	8.439	0.31965	830	0.39242	Period circadian-like, C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1308.43	103	chr2	238250647	.	C	T	1308.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.116;DP=417;ExcessHet=0;FS=11.337;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.7;ReadPosRankSum=-1.805;SOR=1.595	GT:AD:DP:GQ:PL	0/1:51,52:103:99:1320,0,1344	9	0	1	0
chr2	241096064	241096078	GTCATCCTCATCATT	-	exonic	MTERF4	.	nonframeshift deletion	MTERF4:NM_001330179:exon3:c.502_516del:p.N168_D172del,MTERF4:NM_182501:exon4:c.1066_1080del:p.N356_D360del	.	417	1099	5	1	0	7	0.0031746	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0159	.	0.0011	0.0035	8.648e-05	0.0001	0	0.0002	0.0011	0.0047	0.0008344	129	154602	rs745932546	0.0006	0.0006	0.0005	0.0007	0.0053	0.0005	0.0005	0.0049	0.0048	0.0040	0.0002	0	5.04e-05	3.744e-05	0.0014	0.0002	0.0008	0.0053	0.0012	0.0012	0.0012	0.0012	0.0060	0.0011	0.0010	0.0043	0.0037	0.0035	0	0.0003	0	0	0	0	0.0001	0.0014	0.0060	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	1746.39	127	chr2	241096063	.	CGTCATCCTCATCATT	C	1746.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.38;DP=454;ExcessHet=0;FS=1.493;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.75;ReadPosRankSum=0.857;SOR=0.854	GT:AD:DP:GQ:PL	0/1:79,48:127:99:1758,0,3093	9	0	1	0
chr2	241267626	241267626	C	T	exonic	HDLBP	.	nonsynonymous SNV	HDLBP:NM_001243900:exon3:c.G23A:p.R8H	.	423	1098	1	0	0	1	0.000455166	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.008	0.0153767647022	.	.	.	.	.	.	.	.	.	.	0.0004226	11	26028	rs569372914	0.0006	0.0005	0.0006	0.0005	0.0007	0.0005	0.0005	0.0006	0.0006	6.33e-05	0.0004	0	2.799e-05	0	0.0005	0.0007	0.0004	3.786e-05	0.0004	0.0004	0.0004	0.0003	0.0007	0.0003	0.0003	0.0006	0.0005	4.824e-05	0	0.0001	0	0	0	0.0032	0.0007	0	0	0.0	0.91255	D	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	2.14	0.19450	T	-0.01	0.07155	N	0.086	0.06322	-1.0338	0.19236	T	0.058	0.24242	T	6	0.04982969	0.04627	T	0.015377	0.36078	T	0.008	0.00669	0.241	0.17371	0.123314135267	0.11883	.	.	.	.	.	.	.	.	.	.	-0.536996	0.00349	T	-0.584667	0.14132	T	0.0956665725383097	0.11873	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.207	0.43393	B	.	.	0.173410	0.05618	2.073	0.26402142535221607	0.01263	0.05101	0.10902	N	AEFDBCI	0.065926	0.12884	N	-0.7237220303041	0.15357	0.7731836	-0.905164815621816	0.11972	0.6131534	0.999064541255495	0.38343	0.372202	0.05800	0	0.573116	0.20632	0	0.633826	0.45126	0	0.491896	0.07777	0	.	.	2.56	1.69	0.23290	-0.739000	0.04971	-1.235000	0.05949	-0.368000	0.05462	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.7295:0.2705:0.0	7.443	0.26368	994	0.00715	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	884.43	80	chr2	241267626	.	C	T	884.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.172;DP=456;ExcessHet=0;FS=0.85;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.06;ReadPosRankSum=0.116;SOR=0.843	GT:AD:DP:GQ:PL	0/1:43,37:80:99:896,0,1011	9	0	1	0
chr2	241720105	241720105	G	A	exonic	ING5	.	nonsynonymous SNV	ING5:NM_001330161:exon8:c.G748A:p.A250T	.	421	1080	18	3	0	24	0.010989	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00559105	.	.	.	.	.	.	.	.	0.0008991	139	154602	rs150207390	0.0053	0.0043	0.0052	0.0054	0.0122	0.0051	0.0051	0.0109	0.0104	0.0007	0.0067	0.0011	3.753e-05	0.0012	0.0062	0.0055	0.0050	0.0122	0.0038	0.0038	0.0041	0.0036	0.0155	0.0036	0.0035	0.0127	0.0117	0.0011	0	0.0057	0.0012	0	0.0010	0.0068	0.0050	0.0095	0.0155	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.999999	0.08975	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.006436944	0.00146	T	.	.	.	.	.	.	.	.	.	0.03679415220182453	0.03626	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.285271	0.05070	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.099	0.16886	B	.	.	-0.366095	0.02342	0.253	0.82576644974495605	0.14264	0.01617	0.05229	N	AEFBCI	.	.	.	.	.	.	.	.	.	0.00191383987539138	0.09002	0.115753	0.02995	0	0.12628	0.03447	0	0.17184	0.04098	0	0.089868	0.02511	0	0.0570213	0.13559	0.605	-0.892	0.10035	-0.221000	0.09208	-3.134000	0.03032	-0.416000	0.05245	0.040000	0.20979	0.000000	0.08366	0.013000	0.09966	.	.	.	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	.	.	.	.	.	.	.	.	0.05	416.43	35	chr2	241720105	.	G	A	416.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.959;DP=342;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.9;ReadPosRankSum=-1.226;SOR=0.66	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:19,16:35:99:0|1:241720105_G_A:428,0,516:241720105	9	0	1	0
chr3	9669457	9669457	T	A	exonic	MTMR14	.	nonsynonymous SNV	MTMR14:NM_001077525:exon5:c.T519A:p.D173E,MTMR14:NM_001077526:exon5:c.T519A:p.D173E,MTMR14:NM_022485:exon5:c.T519A:p.D173E	.	414	1097	11	0	0	11	0.00498866	.	.	.	686469	not_provided|MTMR14-related_disorder	MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.035	0.002170444845	0.0026	0.000998403	0.0025	0.0006	0.0011	0	0.0019	0.0037	0.0011	0.0011	0.0025032	387	154602	rs189614064	0.0035	0.0035	0.0035	0.0035	0.0043	0.0034	0.0034	0.0042	0.0041	0.0007	0.0012	0	2.519e-05	0.0014	0.0005	0.0043	0.0024	0.0010	0.0026	0.0026	0.0026	0.0025	0.0047	0.0024	0.0023	0.0043	0.0042	0.0009	0	0.0012	0	0.0002	0.0009	0	0.0047	0.0014	0.0004	0.324	0.13392	T	0.456	0.14544	T	0.045	0.21781	B	0.029	0.21540	B	0.002468	0.36499	N	0.345887	0.999875	0.50225	D	0.46	0.12951	N	.	.	.	-0.53	0.17003	N	0.116	0.13198	-1.0351	0.18825	T	0.055	0.23224	T	9	0.0027184188	0.00042	T	0.00217	0.04071	T	0.035	0.08770	0.286	0.24440	0.420939154896	0.41709	0.4414582308137197	0.44062	0.199805453002	0.22381	0.397237896919	0.24685	T	0.093064	0.39135	T	-0.474698	0.00795	T	-0.445252	0.28222	T	0.00260963075190112	0.00027	T	0.770523	0.40040	T	0.04071942	0.05866	0.026175898	0.00694	0.047488663	0.08124	0.025194284	0.00556	-2.021	0.03412	T	0.10249996724304664	0.07799	0.112	0.23430	B	.;.;.	.;.;.	0.647799	0.10163	6.905	0.8245160698984707	0.14199	0.32006	0.24479	N	AEFBCI	0.147500	0.27119	N	-0.924686212426719	0.10266	0.4897985	-0.81278030839542	0.14186	0.7399426	0.999864712669788	0.44398	0.744818	0.98587	0	0.702456	0.74545	0	0.732433	0.93434	0	0.714379	0.83352	0	.	.	5.55	3.13	0.35090	0.254000	0.18084	-0.759000	0.07544	-0.155000	0.11859	0.075000	0.22209	0.000000	0.08366	0.987000	0.62547	0.0:0.146:0.1443:0.7097	5.667	0.16975	744	0.52588	.;MTMR14, PH-GRAM domain;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.001007	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.003788	0.05	2571.43	178	chr3	9669457	.	T	A	2571.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.14;DP=502;ExcessHet=0;FS=1.879;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.45;ReadPosRankSum=-1.4;SOR=0.853	GT:AD:DP:GQ:PL	0/1:85,93:178:99:2583,0,2311	9	0	1	0
chr3	14514356	14514356	C	T	exonic	GRIP2	.	nonsynonymous SNV	GRIP2:NM_001080423:exon12:c.G1429A:p.A477T	.	422	1042	55	3	0	61	0.0284382	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0069	0.00678914	0.0209	0.0032	0.0079	0	0.0361	0.0183	0.0125	0.0372	0.0076972	1190	154602	rs61731933	0.0084	0.0084	0.0075	0.0093	0.0336	0.0083	0.0082	0.0325	0.0321	0.0019	0.0026	0.0082	7.976e-05	0.0106	0.0125	0.0072	0.0070	0.0336	0.0070	0.0070	0.0064	0.0077	0.0310	0.0067	0.0065	0.0268	0.0252	0.0025	0	0.0021	0.0071	0	0.0137	0.0103	0.0088	0.0063	0.0310	.	.	.	0.015	0.63109	D	0.973	0.57599	D	0.866	0.61580	P	.	.	.	.	.	.	.	1.7	0.43825	L	.	.	.	.	.	.	0.451	0.48872	.	.	.	.	.	.	.	0.008893639	0.00201	T	.	.	.	.	.	.	.	.	.	0.4809170231000565	0.48011	.	.	0.710757851601	0.68703	T	0.046215	0.27356	T	-0.15527	0.27491	T	0.0278743	0.72140	D	.	.	.	0.920008	0.71084	D	0.14574614	0.33396	0.41954938	0.65945	0.14574614	0.33396	0.41954938	0.65945	-9.597	0.71461	D	.	.	0.149	0.32851	B	.;.;.	.;.;.	3.997254	0.58871	24.0	0.9309622440940325	0.22722	0.95255	0.64015	D	AEFBI	.	.	.	.	.	.	.	.	.	0.999994724982313	0.74766	0.162113	0.03585	0	0.063388	0.01293	0	0.175069	0.04249	0	0.058706	0.01089	0	0.76698	0.45436	4.73	3.86	0.43689	5.798000	0.68751	3.899000	0.40339	0.549000	0.26987	1.000000	0.71638	0.999000	0.35428	0.997000	0.79791	0.0:0.921:0.0:0.079	13.007	0.58115	894	0.26265	PDZ domain|PDZ domain|PDZ domain;PDZ domain|PDZ domain|PDZ domain;PDZ domain|PDZ domain|PDZ domain	GRIP2|GRIP2|GRIP2|GRIP2|GRIP2	Artery_Tibial|Nerve_Tibial|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Spleen	.	.	.	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	0.014170	0.000000	0.016393	0.014620	0.000000	0.017544	0.021472	0.011450	0.05	845.43	56	chr3	14514356	.	C	T	845.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.789;DP=401;ExcessHet=0;FS=1.037;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=15.1;ReadPosRankSum=0.398;SOR=0.957	GT:AD:DP:GQ:PL	0/1:24,32:56:99:857,0,552	9	0	1	0
chr3	15003967	15003967	C	G	exonic	NR2C2	.	nonsynonymous SNV	NR2C2:NM_001291694:exon2:c.C53G:p.A18G,NR2C2:NM_003298:exon2:c.C53G:p.A18G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.348	0.0295345532005	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.189e-05	0.0009	5.651e-05	4.724e-05	5.923e-05	4.24e-05	3.867e-05	4.761e-05	4.337e-05	3.02e-05	0	3.857e-05	2.528e-05	0	0	5.923e-05	6.69e-05	3.495e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.124	0.42199	T	0.088	0.63109	T	0.0	0.02946	B	0.0	0.01387	B	0.002953	0.35672	N	0.313188	0.869993	0.35545	D	-0.14	0.04484	N	-3.3	0.93787	D	-1.5	0.68764	N	0.324	0.36464	0.217	0.86200	D	0.665	0.88392	D	10	0.1999422	0.36022	T	0.029535	0.52028	D	0.348	0.66956	0.082	0.00727	0.202312658747	0.19855	0.13027040555393532	0.12952	0.343984992891	0.36322	0.632090747356	0.57442	T	0.163841	0.50907	T	0.0950387	0.63753	D	-0.10126	0.63300	T	0.647998213768005	0.38376	D	0.841416	0.51891	T	0.14685042	0.33598	0.112335265	0.27105	0.14685042	0.33597	0.112335265	0.27104	-2.954	0.13971	T	.	.	0.074	0.62122	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	3.397345	0.47066	22.4	0.98891559513655258	0.48019	0.95884	0.66568	D	AEFBI	0.571784	0.57563	D	-0.0193053131226323	0.40981	2.443305	0.183621717806624	0.48950	3.104215	0.999976298748313	0.50053	0.736574	0.97449	0	0.724815	0.89359	0	0.732669	0.93749	0	0.714379	0.83352	0	.	.	5.31	5.31	0.75063	4.784000	0.62103	7.643000	0.63297	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:1.0:0.0:0.0	18.577	0.91115	588	0.69043	.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3	994.1	208	chr3	15003967	.	C	G	994.1	.	AC=6;AF=0.3;AN=20;BaseQRankSum=-4.547;DP=1799;ExcessHet=4.5998;FS=193.146;InbreedingCoeff=-0.431;MLEAC=6;MLEAF=0.3;MQ=60;MQRankSum=0;QD=0.8;ReadPosRankSum=1.99;SOR=11.524	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:171,37:208:67:.:.:67,0,5651:.	4	0	6	0
chr3	16212658	16212658	C	A	exonic	GALNT15	.	nonsynonymous SNV	GALNT15:NM_001319051:exon6:c.C1287A:p.D429E,GALNT15:NM_054110:exon6:c.C1287A:p.D429E	.	426	1093	3	0	0	3	0.00137049	.	.	.	2374041	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.042	0.0137734817759	7.7e-05	.	4.942e-05	0	0	0	0	7.492e-05	0	6.057e-05	3.88e-05	6	154602	rs141612559	4.72e-05	4.788e-05	3.812e-05	5.638e-05	0.0016	3.794e-05	3.476e-05	0.0008	0.0006	0	0	0	0	0	0.0016	4.676e-05	6.624e-05	4.637e-05	3.942e-05	3.938e-05	2.571e-05	5.376e-05	0.0004	1.715e-05	1.129e-05	7.304e-05	3.034e-05	0	0	6.545e-05	0	0	0	0	4.412e-05	0	0.0004	0.494	0.07895	T	0.503	0.15059	T	0.0	0.02946	B	0.001	0.04355	B	0.412270	0.04598	N	1.324110	1	0.08975	N	0.655	0.16177	N	0.28	0.59037	T	-0.86	0.24898	N	0.145	0.14622	-1.0163	0.24916	T	0.111	0.39912	T	10	0.070640326	0.10304	T	0.013773	0.33422	T	0.042	0.11227	0.29	0.25081	0.257786959452	0.25393	0.3293609085996337	0.32849	0.037360310414	0.03961	0.339285820723	0.16331	T	0.011506	0.11431	T	-0.484875	0.00693	T	-0.708564	0.05370	T	0.0190946846096263	0.00617	T	0.509849	0.16238	T	0.038147908	0.05028	0.034640837	0.02569	0.038147908	0.05028	0.034640837	0.02568	-3.974	0.23413	T	.	.	0.091	0.17232	B	.;.	.;.	1.280859	0.16803	12.78	0.7814957624683635	0.12176	0.06259	0.12250	N	AEFDBI	0.099511	0.20030	N	-0.950295835512918	0.09686	0.4595017	-0.95071823169106	0.10905	0.552343	0.362968936057754	0.19795	0.516011	0.20929	0	0.563428	0.19063	0	0.547309	0.15389	0	0.586402	0.36253	0	.	.	5.38	1.28	0.20656	-0.352000	0.07750	-0.034000	0.12756	0.524000	0.24156	0.029000	0.20367	0.000000	0.08366	0.141000	0.19983	0.1365:0.2717:0.4016:0.1902	2.477	0.04300	878	0.29785	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.05	1566.43	112	chr3	16212658	.	C	A	1566.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.623;DP=422;ExcessHet=0;FS=0.709;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.99;ReadPosRankSum=0.439;SOR=0.688	GT:AD:DP:GQ:PL	0/1:50,62:112:99:1578,0,1873	9	0	1	0
chr3	36829633	36829633	T	C	exonic	TRANK1	.	nonsynonymous SNV	TRANK1:NM_014831:exon22:c.A8608G:p.I2870V,TRANK1:NM_001329998:exon23:c.A8740G:p.I2914V	.	437	1001	81	3	0	87	0.0416467	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.031	.	0.0041	0.0091853	0.0086	0.0012	0.0027	0	0.0002	0.0061	0.0067	0.0353	0.0079883	1235	154602	rs147602680	0.0067	0.0067	0.0057	0.0077	0.0356	0.0066	0.0065	0.0345	0.0341	0.0009	0.0033	0.0053	2.519e-05	0.0004	0.0210	0.0053	0.0063	0.0356	0.0043	0.0043	0.0039	0.0048	0.0332	0.0041	0.0039	0.0290	0.0274	0.0010	0	0.0038	0.0049	0.0002	0.0008	0.0170	0.0052	0.0071	0.0332	0.196	0.20683	T	0.372	0.16376	T	0.0	0.02946	B	0.0	0.01387	B	0.520809	0.05201	N	1.404800	1	0.08975	N	0.69	0.16971	N	2.0	0.21473	T	0.02	0.06739	N	0.057	0.02861	-0.9958	0.31082	T	0.035	0.15074	T	10	0.0029999614	0.00049	T	.	.	.	0.031	0.07369	.	.	0.0986583533028	0.09354	0.07676767821433089	0.07612	0.145140460238	0.16409	0.310466110706	0.11977	T	0.027208	0.19973	T	-0.694287	0.00039	T	-0.744309	0.03712	T	0.00112084309542654	0.00011	T	0.558444	0.19458	T	0.047605358	0.08164	0.053054407	0.08861	0.047605358	0.08164	0.053054407	0.08861	-2.739	0.07636	T	.	.	0.071	0.04599	B	.;.	.;.	0.094974	0.04978	1.540	0.89386594739393521	0.18753	0.01778	0.05572	N	AEFDGBI	0.046980	0.07860	N	-1.01800290355481	0.08230	0.3851583	-1.02789908835854	0.09174	0.4549581	0.82360940086271	0.24567	0.706298	0.61202	0	0.709663	0.81188	0	0.709663	0.75317	0	0.655142	0.61905	0	.	.	5.17	-2.89	0.05326	-0.033000	0.12196	-3.041000	0.03115	0.665000	0.62972	0.000000	0.06391	0.000000	0.08366	0.927000	0.46353	0.0:0.4816:0.0:0.5184	10.658	0.44877	794	0.45591	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.009567	0.000000	0.006793	0.005848	0.000000	0.017241	0.015244	0.026515	0.05	1309.43	139	chr3	36829633	.	T	C	1309.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.236;DP=456;ExcessHet=0;FS=1.381;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.42;ReadPosRankSum=-0.156;SOR=0.555	GT:AD:DP:GQ:PL	0/1:80,59:139:99:1321,0,2218	9	0	1	0
chr3	46498111	46498111	C	T	exonic	RTP3	.	nonsynonymous SNV	RTP3:NM_031440:exon1:c.C49T:p.R17W	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.042	0.00614511048174	.	.	3.307e-05	0	0	0	0	1.504e-05	0	0.0002	2.59e-05	4	154602	rs752009052	2.257e-05	2.257e-05	1.906e-05	2.613e-05	0.0003	1.61e-05	1.416e-05	0.0002	0.0001	0	0	3.826e-05	0	0	0.0002	6.295e-06	3.311e-05	0.0003	6.573e-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	0.002	0.72154	D	0.007	0.69154	D	0.178	0.28960	B	0.012	0.16012	B	0.518255	0.05187	N	1.277970	1	0.08975	N	1.04	0.26193	L	2.15	0.19311	T	-3.54	0.68651	D	0.263	0.29774	-1.0231	0.22704	T	0.036	0.15553	T	10	0.080756396	0.13143	T	0.006145	0.16082	T	0.042	0.11227	0.315	0.29096	0.204665344411	0.20097	0.29318099961901056	0.29231	0.207412736444	0.23197	0.191439449787	0.00251	T	0.144446	0.48107	T	-0.39421	0.02527	T	-0.507839	0.21537	T	0.3056143310809	0.25234	T	0.649435	0.26018	T	0.16530764	0.36793	0.2027248	0.44315	0.16530764	0.36793	0.2027248	0.44314	-5.648	0.43228	T	.	.	0.110	0.21087	B	.	.	2.728729	0.35709	19.97	0.9835939200133772	0.40628	0.02554	0.07084	N	AEFDBI	0.130373	0.24890	N	-0.729158487466303	0.15205	0.7642789	-0.752421094514861	0.15662	0.8248758	0.999977079485454	0.50053	0.403107	0.06075	0	0.547309	0.14657	0	0.578056	0.29568	0	0.613276	0.41899	0	.	.	4.62	2.61	0.30255	0.609000	0.23935	2.350000	0.32308	0.599000	0.40250	0.000000	0.06391	0.014000	0.20376	0.019000	0.11356	0.352:0.477:0.171:0.0	6.836	0.23120	435	0.80441	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	852.43	81	chr3	46498111	.	C	T	852.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.873;DP=433;ExcessHet=0;FS=7.634;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.52;ReadPosRankSum=2.29;SOR=0.252	GT:AD:DP:GQ:PL	0/1:46,35:81:99:864,0,1257	9	0	1	0
chr3	47852796	47852796	T	C	exonic	MAP4	.	nonsynonymous SNV	MAP4:NM_001384681:exon17:c.A3281G:p.H1094R,MAP4:NM_001134364:exon18:c.A3404G:p.H1135R,MAP4:NM_001384756:exon18:c.A3359G:p.H1120R	.	405	1081	36	0	0	36	0.0163785	.	.	.	3192442	not_provided|MAP4-related_disorder	MedGen:C3661900|.	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.028	.	.	0.00479233	0.0113	0	0	0	0	0.0152	0.0068	0.0110	0.003564	551	154602	rs111679040	0.0094	0.0093	0.0092	0.0097	0.0097	0.0093	0.0092	0.0095	0.0095	0.0011	0.0060	0.0118	0	0.0204	0.0071	0.0097	0.0082	0.0089	0.0082	0.0082	0.0080	0.0085	0.0114	0.0079	0.0077	0.0108	0.0105	0.0018	0	0.0024	0.0170	0	0.0231	0.0034	0.0114	0.0076	0.0098	0.0	0.91255	D	0.0	0.92824	D	0.531	0.37720	P	0.259	0.39405	B	.	.	.	.	0.999879	0.50225	D	.	.	.	3.29	0.17923	T	-0.45	0.23590	N	0.096	0.07673	-1.0327	0.19586	T	0.041	0.17785	T	8	0.0052310526	0.00114	T	.	.	.	0.028	0.06331	.	.	0.193917141947	0.19028	.	.	.	.	.	.	.	.	.	.	-0.593386	0.00160	T	-0.614103	0.11654	T	0.0249871233804927	0.01270	T	0.450755	0.12737	T	.	.	.	.	.	.	.	.	-2.603	0.06526	T	.	.	0.079	0.07697	B	.;.;.	.;.;.	1.295537	0.16970	12.88	0.92835641010340864	0.22369	0.41037	0.26569	N	AEFDBCI	0.165662	0.29218	N	-0.347229933997549	0.27374	1.501369	-0.352104349766838	0.26444	1.460669	0.999973800261198	0.50053	0.67177	0.52595	0	0.643519	0.57511	0	0.643519	0.47002	0	0.711	0.71501	0	.	.	4.94	-2.3	0.06399	-0.138000	0.10353	0.817000	0.21810	0.651000	0.53179	0.935000	0.32453	1.000000	0.68203	0.968000	0.53726	0.3848:0.0:0.392:0.2232	5.913	0.18279	9	0.99126	.;.;.	.	.	.	.	rs111679040	Likely benign	0	0	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	0.005233	0.005319	0.005034	0.000000	0.000000	0.010204	0.003497	0.017391	0.05	277.43	18	chr3	47852796	.	T	C	277.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.091;DP=261;ExcessHet=0;FS=0;InbreedingCoeff=-0.0527;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=15.41;ReadPosRankSum=1.34;SOR=0.446	GT:AD:DP:GQ:PL	0/1:8,10:18:99:289,0,232	9	0	1	0
chr3	48224612	48224612	C	T	exonic	CAMP	.	nonsynonymous SNV	CAMP:NM_004345:exon3:c.C319T:p.R107W	.	418	1102	2	0	0	2	0.000906618	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.028	0.00311631715202	.	.	8.239e-06	0	0	0	0	1.499e-05	0	0	1.29e-05	2	154602	rs779987355	1.574e-05	1.71e-05	1.634e-05	1.513e-05	0.0007	1.048e-05	8.76e-06	0.0002	0.0001	0	4.472e-05	0	2.519e-05	0	0.0007	9.898e-06	4.97e-05	2.319e-05	6.577e-06	6.568e-06	0	1.346e-05	2.416e-05	0	0	.	.	2.416e-05	0	0	0	0	0	0	0	0	0	.	.	.	0.078	0.42261	T	.	.	.	.	.	.	0.465755	0.04896	N	1.302650	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.267	0.30233	-1.0136	0.25784	T	0.067	0.27640	T	9	0.12272665	0.23286	T	0.003116	0.06756	T	0.028	0.06331	.	.	0.439551795455	0.43578	0.3201863287063851	0.31931	0.0665655467666	0.07422	0.212739616632	0.00933	T	.	.	.	-0.347404	0.04892	T	-0.560951	0.16289	T	0.0489079616963863	0.05308	T	0.843516	0.52087	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.099	0.16800	B	.	.	2.400174	0.30838	18.56	0.92349894030689517	0.21751	0.02186	0.06394	N	AEFDBI	0.086491	0.17536	N	-0.983367916561709	0.08958	0.4220724	-0.959826020675338	0.10696	0.5403415	0.999583789198302	0.40607	0.554377	0.28877	0	0.624146	0.53433	0	0.602189	0.34648	0	0.542086	0.14980	0	.	.	5.49	0.3	0.15024	-0.093000	0.11077	-5.367000	0.01745	-0.193000	0.09282	0.009000	0.18154	0.000000	0.08366	0.435000	0.27561	0.1512:0.4512:0.147:0.2506	1.361	0.02060	22	0.98466	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.008621	0.000000	0.000000	0.05	1158.43	88	chr3	48224612	.	C	T	1158.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.705;DP=407;ExcessHet=0;FS=0.822;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.16;ReadPosRankSum=-0.598;SOR=0.534	GT:AD:DP:GQ:PL	0/1:38,50:88:99:1170,0,856	9	0	1	0
chr3	48378467	48378467	A	G	exonic	FBXW12	.	nonsynonymous SNV	FBXW12:NM_001159929:exon5:c.A499G:p.M167V,FBXW12:NM_207102:exon6:c.A556G:p.M186V	.	436	1054	31	1	0	33	0.0154134	.	.	.	2827376	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.036	.	0.0041	0.00419329	0.0056	0.0009	0.0034	0	0.0061	0.0065	0.0022	0.0098	0.0052587	813	154602	rs112908035	0.0045	0.0045	0.0041	0.0048	0.0095	0.0044	0.0043	0.0083	0.0081	0.0005	0.0038	0.0108	0	0.0035	0.0095	0.0042	0.0053	0.0088	0.0042	0.0042	0.0042	0.0043	0.0085	0.0040	0.0039	0.0064	0.0057	0.0011	0.0219	0.0053	0.0124	0	0.0043	0.0068	0.0052	0.0057	0.0085	0.007	0.59928	D	0.024	0.92824	D	0.012	0.16265	B	0.004	0.10090	B	0.312726	0.14405	N	0.685919	1	0.08975	N	1.39	0.34934	L	1.69	0.61326	T	-1.41	0.37566	N	0.168	0.21056	-1.0276	0.21233	T	0.080	0.31675	T	10	0.0056948066	0.00126	T	.	.	.	0.036	0.09122	.	.	0.392547445146	0.38869	0.2117677455546894	0.21092	0.0899978118778	0.10153	0.304977238178	0.11148	T	0.004278	0.03690	T	-0.507582	0.00518	T	-0.494634	0.22907	T	0.00681181412998566	0.00077	T	0.424958	0.11391	T	0.23161419	0.45935	0.12328104	0.29730	0.23161419	0.45935	0.12328104	0.29729	-5.689	0.53255	T	.	.	0.145	0.32030	B	.;.;.	.;.;.	-0.691431	0.01341	0.074	0.3674842846625847	0.02381	0.01129	0.04108	N	AEFBI	0.034401	0.04254	N	-1.28344631552288	0.03875	0.173874	-1.40789225083206	0.03173	0.1474615	0.12793397980814	0.17030	0.553676	0.25195	0	0.588015	0.36545	0	0.618467	0.43123	0	0.530356	0.10902	0	.	.	4.5	-5.66	0.02255	-0.003000	0.12836	-1.477000	0.05351	-0.054000	0.16847	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.4227:0.2396:0.3377:0.0	5.596	0.16607	24	0.98379	.;.;.	.	.	.	.	.	Likely benign	0	0	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	0.011078	0.010101	0.017663	0.002924	0.000000	0.008621	0.006098	0.007576	0.05	1197.43	106	chr3	48378467	.	A	G	1197.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.628;DP=510;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.3;ReadPosRankSum=-0.591;SOR=0.765	GT:AD:DP:GQ:PL	0/1:52,54:106:99:1209,0,1283	9	0	1	0
chr3	49419325	49419325	C	T	exonic	AMT	.	nonsynonymous SNV	AMT:NM_001164710:exon5:c.G499A:p.E167K,AMT:NM_001164711:exon5:c.G463A:p.E155K,AMT:NM_000481:exon6:c.G631A:p.E211K,AMT:NM_001164712:exon6:c.G631A:p.E211K	Glycine encephalopathy, Autosomal recessive	0	1424	94	4	0	102	0.0345763	.	.	.	452827	Glycine_encephalopathy|not_specified|not_provided	Human_Phenotype_Ontology:HP:0008288,MONDO:MONDO:0011612,MedGen:C0751748,OMIM:PS605899,Orphanet:407|MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.077	.	0.0065	0.0071885	0.0110	0.0012	0.0059	0	0.0136	0.0125	0.0203	0.0191	0.0104591	1617	154602	rs116192290	0.0089	0.0089	0.0083	0.0095	0.0270	0.0087	0.0087	0.0236	0.0223	0.0012	0.0066	0.0194	7.557e-05	0.0116	0.0270	0.0082	0.0102	0.0182	0.0079	0.0079	0.0078	0.0081	0.0174	0.0075	0.0074	0.0144	0.0133	0.0018	0.0219	0.0074	0.0170	0	0.0131	0.0272	0.0099	0.0137	0.0174	0.661	0.13262	T	0.8	0.04142	T	0.019	0.17989	B	0.023	0.19966	B	0.016838	0.27876	N	0.416320	0.655655	0.36667	D	0.19	0.09125	N	-1.73	0.83327	D	-1.46	0.37375	N	0.179	0.30118	-0.9990	0.30199	T	0.063	0.26136	T	10	0.008803636	0.00199	T	.	.	.	0.437	0.74164	.	.	.	.	0.6177274581730304	0.61705	0.234613189541	0.26000	0.587630629539	0.51160	T	0.595225	0.86947	D	-0.199244	0.20915	T	-0.0440396	0.67427	D	0.00989505753933275	0.00131	T	0.948205	0.80130	D	0.3693229	0.58535	0.14150867	0.33697	0.3693229	0.58535	0.14150867	0.33696	-6.095	0.48405	T	0.12287218848646665	0.11830	0.133	0.35034	B	.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.	2.845707	0.37553	20.5	0.99527904960598856	0.69653	0.64042	0.32280	D	AEFDGBCI	0.282641	0.39593	N	0.0923306099819885	0.46106	2.856147	0.178970971326757	0.48694	3.082081	0.999999700014168	0.74766	0.634777	0.41761	0	0.643519	0.57511	0	0.643519	0.47002	0	0.508809	0.08732	0	.	.	5.43	3.64	0.40864	2.567000	0.45619	3.305000	0.37415	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.827:0.0:0.173	9.263	0.36786	1	0.99630	Aminomethyltransferase, folate-binding domain;.;.;Aminomethyltransferase, folate-binding domain;Aminomethyltransferase, folate-binding domain;Aminomethyltransferase, folate-binding domain;Aminomethyltransferase, folate-binding domain;Aminomethyltransferase, folate-binding domain;Aminomethyltransferase, folate-binding domain;Aminomethyltransferase, folate-binding domain;.;.	.	.	.	.	rs116192290	Likely benign	0	0	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	0.021148	0.010101	0.020380	0.026316	0.000000	0.008621	0.024390	0.026515	0.05	1809.43	131	chr3	49419325	.	C	T	1809.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.116;DP=450;ExcessHet=0;FS=2.251;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.81;ReadPosRankSum=-1.153;SOR=0.514	GT:AD:DP:GQ:PL	0/1:62,69:131:99:1821,0,1678	9	0	1	0
chr3	50300616	50300616	G	A	exonic	HYAL1	.	nonsynonymous SNV	HYAL1:NM_153282:exon3:c.C1085T:p.T362M,HYAL1:NM_033159:exon4:c.C1175T:p.T392M,HYAL1:NM_153283:exon4:c.C629T:p.T210M,HYAL1:NM_153285:exon4:c.C398T:p.T133M,HYAL1:NM_153281:exon6:c.C1175T:p.T392M	.	0	1515	7	0	0	7	0.00230491	.	.	.	291154	HYAL1-related_disorder|Deficiency_of_hyaluronoglucosaminidase|not_provided	.|MONDO:MONDO:0011093,MedGen:C1291490,OMIM:601492,Orphanet:67041|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.049	.	0.0003	0.0133786	0.0061	0.0005	0.0005	0.0731	0	0.0006	0.0022	0.0036	0.0057567	890	154602	rs117179004	0.0021	0.0021	0.0021	0.0020	0.0526	0.0020	0.0020	0.0507	0.0499	0.0002	0.0004	3.826e-05	0.0526	0.0001	0.0009	0.0002	0.0055	0.0043	0.0029	0.0029	0.0025	0.0033	0.0696	0.0027	0.0026	0.0637	0.0614	0.0007	0	0.0005	0	0.0696	0	0	0.0001	0.0028	0.0058	0.145	0.28520	T	0.11	0.38016	T	0.972	0.64738	D	0.155	0.49695	B	0.004492	0.01028	N	2.767310	1	0.08975	N	1.995	0.54099	M	2.23	0.31470	T	-1.27	0.39692	N	0.087	0.13341	-1.0552	0.12987	T	0.009	0.03183	T	10	0.0025167465	0.00038	T	.	.	.	0.049	0.13647	.	.	0.315903272564	0.31202	0.5541361122987098	0.55340	0.209876500968	0.23465	0.262945413589	0.05246	T	0.318882	0.69021	T	-0.639758	0.00084	T	-0.631732	0.10285	T	0.00499110187345481	0.00054	T	0.534247	0.19673	T	0.056610126	0.11161	0.06826712	0.14233	0.07150101	0.15833	0.062995665	0.12413	-5.045	0.40900	T	.	.	0.077	0.09336	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	0.151886	0.05437	1.911	0.99102226227544155	0.52496	0.09704	0.15400	N	AEFDGBHCI	0.256514	0.37542	N	-0.617990828847728	0.18404	0.9552193	-0.813921294950261	0.14158	0.738361	0.999999993924381	0.74766	0.696267	0.57585	0	0.475579	0.06741	0	0.691665	0.62940	0	0.635259	0.50027	0	.	.	5.15	-1.02	0.09618	-0.433000	0.07017	-2.770000	0.03379	-0.830000	0.02882	0.000000	0.06391	0.000000	0.08366	0.061000	0.16044	0.1663:0.0:0.3719:0.4618	5.792	0.17630	3	0.99430	.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.05	1151.43	106	chr3	50300616	.	G	A	1151.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=4.06;DP=417;ExcessHet=0;FS=4.991;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.86;ReadPosRankSum=0.518;SOR=0.36	GT:AD:DP:GQ:PL	0/1:66,40:106:99:1163,0,1717	9	0	1	0
chr3	52741459	52741459	C	G	exonic	NEK4	.	nonsynonymous SNV	NEK4:NM_001193533:exon12:c.G1778C:p.S593T,NEK4:NM_001348412:exon12:c.G1907C:p.S636T,NEK4:NM_001348413:exon12:c.G1907C:p.S636T,NEK4:NM_001348414:exon13:c.G1799C:p.S600T,NEK4:NM_003157:exon13:c.G2045C:p.S682T	.	431	1090	1	0	0	1	0.000458505	.	.	.	2378839	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.129	0.0185633698161	.	.	4.944e-05	0	0	0	0	5.997e-05	0	0.0001	3.88e-05	6	154602	rs767467595	7.541e-06	7.525e-06	6.823e-06	8.266e-06	5.802e-05	4.05e-06	2.96e-06	2.195e-05	1.431e-05	0	0	0	0	0	0	5.409e-06	0	5.802e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.246	0.23984	T	0.991	0.68779	D	0.787	0.64351	P	0.000077	0.52346	D	0.083982	0.925699	0.41768	D	2.78	0.81115	M	2.21	0.77206	T	-1.59	0.39692	N	0.348	0.44090	0.164	0.85288	D	0.543	0.83185	D	10	0.22868478	0.39779	T	0.018563	0.40664	T	0.129	0.35316	0.122	0.02867	0.840521150002	0.83899	0.27568859097061366	0.27481	0.558507525721	0.52429	0.488857328892	0.37280	T	0.016125	0.17282	T	-0.0960557	0.37078	T	-0.172154	0.57245	T	0.456984523183583	0.31055	T	0.819918	0.54093	T	0.24532142	0.47490	0.22450751	0.47365	0.24532142	0.47490	0.22450751	0.47364	-4.53	0.31279	T	.	.	0.138	0.46156	B	.;.;.;.	.;.;.;.	4.134473	0.61898	24.4	0.99569316840883482	0.72318	0.95930	0.66770	D	AEFBI	0.354701	0.44669	N	0.66926158181364	0.77620	6.709892	0.662706134394025	0.79559	7.108297	0.0178199491041204	0.12992	0.732398	0.92422	0	0.743671	0.97443	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	5.23	5.23	0.72570	4.148000	0.57856	2.791000	0.34796	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.91:0.0:0.09	9.977	0.40964	28	0.98252	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	956.43	90	chr3	52741459	.	C	G	956.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.779;DP=417;ExcessHet=0;FS=2.773;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.63;ReadPosRankSum=1.04;SOR=1.022	GT:AD:DP:GQ:PL	0/1:50,40:90:99:968,0,1192	9	0	1	0
chr3	54642237	54642237	G	A	exonic	CACNA2D3	.	nonsynonymous SNV	CACNA2D3:NM_018398:exon11:c.G1163A:p.R388Q	.	423	1097	2	0	0	2	0.000910747	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.231	0.0291211813459	.	.	1.09e-05	0	0	0	0	1.931e-05	0	0	1.29e-05	2	154602	rs754529060	7.591e-06	9.577e-06	9.614e-06	5.548e-06	0.0002	4.07e-06	2.98e-06	3.84e-06	2.78e-06	0	0	0	2.53e-05	0	0.0002	8.161e-06	0	0	1.314e-05	1.313e-05	0	2.691e-05	2.94e-05	2.18e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.94e-05	0	0	0.239	0.19225	T	0.142	0.33330	T	0.999	0.77913	D	0.981	0.75168	D	0.000000	0.84330	D	0.000000	0.990397	0.41150	D	1.365	0.34158	L	2.66	0.12575	T	-2.1	0.49187	N	0.795	0.79118	-1.1319	0.01693	T	0.098	0.36728	T	10	0.5598257	0.64724	D	0.029121	0.51684	D	0.231	0.53208	.	.	0.451585352066	0.44779	0.8433265553219774	0.84293	0.985741317093	0.73899	0.731552958488	0.71733	T	0.165328	0.51113	T	0.0191875	0.54272	T	-0.210215	0.53675	T	0.963774979114532	0.66758	D	0.972603	0.90144	D	0.53326154	0.69016	0.46637398	0.69037	0.53326154	0.69017	0.46637398	0.69038	-7.237	0.66538	T	.	.	0.105	0.21011	B	.;.;.;.;.	.;.;.;.;.	5.833790	0.93750	33	0.99957097854052313	0.99981	0.98444	0.82841	D	AEFDBI	0.889540	0.82372	D	0.800489757183521	0.86136	8.789685	0.810714353078477	0.90530	10.44874	1.0	0.98316	0.538715	0.22204	0	0.573888	0.26702	0	0.78367	0.99111	0	0.564101	0.26826	0	.	.	5.92	5.92	0.95557	8.187000	0.89659	11.788000	0.96293	0.674000	0.70861	1.000000	0.71638	1.000000	0.68203	0.989000	0.64315	0.0:0.0:1.0:0.0	18.512	0.90872	899	0.25060	von Willebrand factor, type A|von Willebrand factor, type A|von Willebrand factor, type A;von Willebrand factor, type A|von Willebrand factor, type A|von Willebrand factor, type A;von Willebrand factor, type A|von Willebrand factor, type A|von Willebrand factor, type A;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1561.43	100	chr3	54642237	.	G	A	1561.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.27;DP=407;ExcessHet=0;FS=0.77;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=15.61;ReadPosRankSum=0.552;SOR=0.547	GT:AD:DP:GQ:PL	0/1:40,60:100:99:1573,0,877	9	0	1	0
chr3	58112167	58112167	C	T	exonic	FLNB	.	nonsynonymous SNV	FLNB:NM_001164317:exon18:c.C2594T:p.P865L,FLNB:NM_001164318:exon18:c.C2594T:p.P865L,FLNB:NM_001164319:exon18:c.C2594T:p.P865L,FLNB:NM_001457:exon18:c.C2594T:p.P865L	Atelosteogenesis, type I, Autosomal dominant;Atelosteogenesis, type III, Autosomal dominant;Boomerang dysplasia, Autosomal dominant;Larsen syndrome, Autosomal dominant;Spondylocarpotarsal synostosis syndrome, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	1549250	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.797	0.241329232845	.	.	8.311e-05	0	0	0	0	0.0001	0	6.171e-05	6.47e-05	10	154602	rs760914568	2.531e-05	2.531e-05	2.586e-05	2.475e-05	0.0003	1.868e-05	1.631e-05	6.101e-05	2.525e-05	5.974e-05	2.236e-05	0	0	0	0.0003	2.248e-05	6.623e-05	3.479e-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	0.019	0.50132	D	0.001	0.83351	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.87	0.83286	M	-2.01	0.85468	D	-7.69	0.95603	D	0.84	0.94668	0.723	0.93454	D	0.798	0.93177	D	10	0.84917814	0.84091	D	0.241329	0.88712	D	0.797	0.93346	0.577	0.70217	0.984899833571	0.98473	0.6246814449880361	0.62401	0.911871178692	0.71093	0.793644368649	0.80997	T	0.778177	0.94120	D	0.29913	0.82898	D	0.383586	0.91556	D	0.978811681270599	0.72514	D	0.968203	0.88468	D	0.4831042	0.66088	0.4287025	0.66576	0.4831042	0.66089	0.4287025	0.66576	-7.879	0.60242	D	0.3802825179718605	0.47479	0.345	0.56218	A	.;.;.;.;.	.;.;.;.;.	5.282063	0.88686	29.7	0.99866685547330025	0.94457	0.96272	0.68332	D	AEFDBHCI	0.921714	0.89561	D	0.891986736621523	0.91363	10.84515	0.835267392564483	0.92126	11.25078	1.0	0.98316	0.730579	0.87903	0	0.749866	0.99406	0	0.724815	0.87919	0	0.711	0.71501	0	.	.	5.29	5.29	0.74430	7.903000	0.86133	7.684000	0.65448	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.963000	0.52385	0.0:1.0:0.0:0.0	18.942	0.92582	422	0.81333	.;.;.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	1316.43	110	chr3	58112167	.	C	T	1316.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.31;DP=421;ExcessHet=0;FS=3.722;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.97;ReadPosRankSum=-1.145;SOR=1.136	GT:AD:DP:GQ:PL	0/1:62,48:110:99:1328,0,1607	9	0	1	0
chr3	58293743	58293743	A	G	exonic	ABHD6	.	nonsynonymous SNV	ABHD6:NM_020676:exon9:c.A992G:p.D331G,ABHD6:NM_001320126:exon10:c.A992G:p.D331G	.	.	.	.	.	.	.	.	.	.	.	2366650	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.185	0.00755447774729	0.0004	0.000199681	0.0002	0	0	0	0	0.0002	0	0.0005	0.0002005	31	154602	rs146742146	0.0002	0.0002	0.0001	0.0002	0.0005	0.0001	0.0001	0.0002	0.0001	0	0	0	0	1.873e-05	0.0005	0.0002	0.0002	0.0002	0.0001	0.0001	0.0001	0.0001	0.0003	8.161e-05	6.718e-05	0.0002	0.0001	0	0	0	0	0	9.411e-05	0	0.0003	0	0	0.293	0.14843	T	0.376	0.16182	T	0.001	0.07471	B	0.0	0.01387	B	0.003165	0.35330	N	0.362771	0.848432	0.28531	N	-0.55	0.02420	N	-1.45	0.80899	T	-0.33	0.12472	N	0.059	0.03069	-0.9289	0.44299	T	0.158	0.49161	T	10	0.038886696	0.02338	T	0.007554	0.20033	T	0.185	0.45933	.	.	0.646386484032	0.64345	0.37234343318444185	0.37148	0.262192732783	0.28783	0.28920006752	0.08805	T	0.097406	0.40019	T	-0.354843	0.04430	T	-0.425517	0.30446	T	0.0521305851949021	0.05870	T	0.616038	0.23564	T	0.07456828	0.16742	0.05922786	0.11079	0.07456828	0.16742	0.05922786	0.11079	-4.11	0.25438	T	.	.	0.063	0.01534	B	.;.	.;.	2.168090	0.27628	17.53	0.9719096340522041	0.32767	0.70549	0.34636	D	AEFBI	0.384760	0.46576	N	-0.575110910309984	0.19703	1.033249	-0.346770365822234	0.26610	1.470892	0.00626336467491408	0.11171	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.655142	0.61905	0	.	.	5.32	2.79	0.31792	0.970000	0.28980	4.721000	0.44505	0.752000	0.88150	0.544000	0.27298	1.000000	0.68203	0.997000	0.79791	0.7648:0.1501:0.0851:0.0	6.787	0.22860	452	0.79239	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1092.43	79	chr3	58293743	.	A	G	1092.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.49;DP=395;ExcessHet=0;FS=1.907;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.83;ReadPosRankSum=-2.904;SOR=1.04	GT:AD:DP:GQ:PL	0/1:37,42:79:99:1104,0,931	9	0	1	0
chr3	69193740	69193740	G	C	exonic	FRMD4B	.	nonsynonymous SNV	FRMD4B:NM_015123:exon17:c.C1622G:p.A541G	.	442	1074	6	0	0	6	0.00278552	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.541	.	0.0055	0.00239617	0.0062	0.0012	0.0022	0	0.0042	0.0088	0.0101	0.0049	0.0061254	947	154602	rs115964883	0.0081	0.0082	0.0082	0.0081	0.0094	0.0080	0.0080	0.0092	0.0092	0.0007	0.0031	0.0033	2.519e-05	0.0053	0.0023	0.0094	0.0074	0.0054	0.0054	0.0055	0.0054	0.0055	0.0097	0.0051	0.0050	0.0091	0.0089	0.0011	0	0.0028	0.0026	0	0.0042	0	0.0097	0.0033	0.0037	0.003	0.68238	D	0.093	0.54934	T	0.996	0.68779	D	0.851	0.60700	P	0.000001	0.62929	D	0.055902	0.999997	0.58761	D	2.625	0.76847	M	-2.21	0.86963	D	-2.68	0.57275	D	0.669	0.71321	0.509	0.90670	D	0.696	0.89528	D	10	0.006872773	0.00156	T	.	.	.	0.541	0.80842	.	.	0.78523500097	0.78325	0.30783445442865864	0.30696	0.187826864618	0.21109	0.492879807949	0.37837	T	0.179843	0.65501	T	-0.155012	0.27531	T	0.0155905	0.71344	D	0.0473087162063942	0.05021	T	0.929107	0.74412	D	0.4346774	0.63058	0.4597226	0.68616	0.4346774	0.63059	0.4597226	0.68616	-10.766	0.78359	D	.	.	0.282	0.51463	B	.;.	.;.	4.631592	0.73641	26.0	0.99795902521344293	0.88106	0.97474	0.74982	D	AEFBCI	0.912171	0.87244	D	0.734428777917962	0.81890	7.629033	0.730632863531478	0.84705	8.366976	0.999999999999999	0.74766	0.706548	0.73137	0	0.588066	0.40923	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	5.68	5.68	0.88021	9.602000	0.97623	11.929000	0.99898	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.356000	0.25796	0.0:0.0:1.0:0.0	19.805	0.96520	612	0.66786	.;.	.	.	.	.	.	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	0.004532	0.000000	0.002717	0.005848	0.000000	0.000000	0.006098	0.000000	0.05	2269.43	189	chr3	69193740	.	G	C	2269.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.92;DP=570;ExcessHet=0;FS=1.144;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.01;ReadPosRankSum=0.707;SOR=0.594	GT:AD:DP:GQ:PL	0/1:101,88:189:99:2281,0,2276	9	0	1	0
chr3	72908447	72908447	A	G	exonic	GXYLT2	.	nonsynonymous SNV	GXYLT2:NM_001080393:exon2:c.A356G:p.N119S	.	424	1095	3	0	0	3	0.00136799	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.094	.	0.0027	0.00119808	0.0038	0.0010	0.0004	0	0.0039	0.0056	0.0056	0.0024	0.0035769	553	154602	rs191393310	0.0034	0.0034	0.0033	0.0034	0.0038	0.0033	0.0033	0.0034	0.0034	0.0004	0.0014	0.0104	0.0002	0.0040	0.0038	0.0035	0.0034	0.0025	0.0032	0.0032	0.0035	0.0030	0.0052	0.0030	0.0029	0.0047	0.0046	0.0006	0	0.0022	0.0081	0	0.0035	0.0102	0.0052	0.0028	0.0015	0.254	0.16903	T	0.198	0.27767	T	0.004	0.12183	B	0.029	0.21540	B	0.001180	0.39978	N	0.276343	0.682303	0.30267	N	0.44	0.12706	N	0.82	0.48142	T	-0.93	0.24898	N	0.194	0.21319	-1.0296	0.20583	T	0.066	0.27156	T	10	0.010879308	0.00240	T	.	.	.	0.094	0.27141	.	.	0.312608672186	0.30878	0.3450169498023485	0.34415	0.237996932792	0.26348	0.291936814785	0.09204	T	0.088135	0.38094	T	-0.644762	0.00078	T	-0.694928	0.06107	T	0.00379635748568261	0.00040	T	0.608739	0.23025	T	0.04616928	0.07681	0.05321364	0.08918	0.04616928	0.07680	0.05321364	0.08918	-3.306	0.13815	T	.	.	0.061	0.01126	B	.	.	1.397835	0.18117	13.56	0.78133591391710899	0.12169	0.89717	0.50362	D	AEFBCI	0.554472	0.56530	D	-0.498292687934443	0.22137	1.179899	-0.271142621926909	0.29054	1.624727	0.999998936519779	0.74766	0.615465	0.37627	0	0.610034	0.51514	0	0.658983	0.55881	0	0.526803	0.08958	0	.	.	5.44	4.28	0.50183	3.372000	0.52115	1.235000	0.25068	-0.070000	0.16343	0.986000	0.36153	0.000000	0.08366	0.973000	0.55318	0.9289:0.0:0.0711:0.0	11.369	0.48927	922	0.19044	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002518	0.000000	0.000000	0.000000	0.000000	0.008621	0.012195	0.000000	0.05	740.43	64	chr3	72908447	.	A	G	740.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.053;DP=376;ExcessHet=0;FS=0.964;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.57;ReadPosRankSum=1.05;SOR=0.522	GT:AD:DP:GQ:PL	0/1:35,29:64:99:752,0,904	9	0	1	0
chr3	75730451	75730451	T	G	exonic	ZNF717	.	stoploss	ZNF717:NM_001324027:exon7:c.A2396C:p.X799S	.	432	314	768	8	0	784	0.555241	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000461	12	26028	rs75952318	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	21306.0	161	chr3	75730451	.	T	G	21306.0	.	AC=10;AF=0.5;AN=20;BaseQRankSum=-2.248;DP=1190;ExcessHet=22.563;FS=6.109;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=55.37;MQRankSum=-6.108;QD=18.26;ReadPosRankSum=1.56;SOR=0.391	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:90,71:161:99:0|1:75730450_C_T:2686,0,3528:75730450	0	0	10	0
chr3	75730611	75730611	G	T	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001324027:exon7:c.C2236A:p.L746I	.	434	899	189	0	0	189	0.0951183	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0330413	860	26028	rs73841587	5.455e-06	4.771e-06	3.964e-06	6.718e-06	9.364e-05	1.45e-06	4e-07	2.481e-05	1.287e-05	0	0	0	9.364e-05	0	0	0	0	0	6.571e-06	6.567e-06	0	1.345e-05	.	0	0	.	.	0	0	0	0	0	9.418e-05	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2	379.75	94	chr3	75730611	.	G	T	379.75	.	AC=4;AF=0.2;AN=20;BaseQRankSum=1.22;DP=666;ExcessHet=1.5895;FS=30.378;InbreedingCoeff=-0.2547;MLEAC=4;MLEAF=0.2;MQ=56.6;MQRankSum=-6.063;QD=1.27;ReadPosRankSum=-2.301;SOR=6.225	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:85,9:94:99:.:.:122,0,3435:.	6	0	4	0
chr3	75736884	75736884	-	A	exonic	ZNF717	.	stoploss	ZNF717:NM_001128223:exon5:c.2738dupT:p.*915delinsLNTQPTPLWLLLQISPCSV*,ZNF717:NM_001290208:exon5:c.2738dupT:p.*915delinsLNTQPTPLWLLLQISPCSV*,ZNF717:NM_001290209:exon5:c.2588dupT:p.*865delinsLNTQPTPLWLLLQISPCSV*	.	408	790	324	0	0	324	0.170168	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0673505	1753	26028	rs149076283	2.008e-05	1.984e-05	1.697e-05	2.328e-05	2.801e-05	1.393e-05	1.199e-05	1.594e-05	1.347e-05	0	0	0	2.801e-05	0	0	2.322e-05	1.729e-05	1.281e-05	1.313e-05	1.312e-05	2.569e-05	0	2.939e-05	2.18e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.939e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	3032.01	154	chr3	75736884	.	G	GA	3032.01	.	AC=10;AF=0.5;AN=20;BaseQRankSum=0.024;DP=1489;ExcessHet=22.563;FS=2.546;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=57.59;MQRankSum=-6.777;QD=2.12;ReadPosRankSum=0.738;SOR=0.572	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:135,19:154:82:.:.:82,0,5359:.	0	0	10	0
chr3	75736891	75736891	G	A	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.C2732T:p.S911F,ZNF717:NM_001290208:exon5:c.C2732T:p.S911F,ZNF717:NM_001290209:exon5:c.C2582T:p.S861F	.	413	564	544	0	1	545	0.325359	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.061	0.00165921998894	.	.	.	.	.	.	.	.	.	.	0.0107192	279	26028	rs77747132	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.038	0.42783	D	0.001	0.83351	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	3.22	0.07024	T	-1.16	0.29727	N	0.094	0.07398	-0.9320	0.43844	T	0.010	0.03856	T	9	0.06138295	0.07688	T	0.001659	0.02728	T	0.061	0.17616	.	.	0.0138822411134	0.00435	0.004917126878572224	0.00463	.	.	0.422835052013	0.28227	T	.	.	.	-0.173524	0.24704	T	-0.487032	0.23703	T	0.330072145045039	0.26228	T	0.353565	0.07967	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.167	0.36732	B	.	.	1.343956	0.17510	13.20	0.99194171637765427	0.55083	0.00118	0.00744	N	AEFDBCI	0.022343	0.01105	N	-1.23987897260233	0.04434	0.2001198	-1.31939943106607	0.04180	0.1966005	0.999947639461096	0.47345	0.562547	0.31514	0	0.653731	0.59785	0	0.517114	0.09559	2	0.264475	0.05362	3	.	.	1.54	-0.734	0.10579	-0.650000	0.05477	.	.	0.542000	0.25261	0.000000	0.06391	0.000000	0.08366	0.005000	0.06747	0.3382:0.0:0.6618:0.0	5.509	0.16158	987	0.02648	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	11377.0	152	chr3	75736891	.	G	A	11377.0	.	AC=10;AF=0.5;AN=20;BaseQRankSum=0.179;DP=1494;ExcessHet=22.563;FS=2.868;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=57.49;MQRankSum=-8.968;QD=7.73;ReadPosRankSum=0.917;SOR=0.514	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:117,35:152:99:0|1:75736891_G_A:1106,0,4717:75736891	0	0	10	0
chr3	75736920	75736920	C	A	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.G2703T:p.E901D,ZNF717:NM_001290208:exon5:c.G2703T:p.E901D,ZNF717:NM_001290209:exon5:c.G2553T:p.E851D	.	404	577	541	0	0	541	0.319174	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.103	0.00110452594305	.	.	.	.	.	.	.	.	.	.	0.071231	1854	26028	rs111230396	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3	0.14497	T	0.062	0.45318	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	3.23	0.06931	T	-1.02	0.26843	N	0.085	0.06190	-0.9483	0.41263	T	0.010	0.03627	T	9	0.058318764	0.06838	T	0.001105	0.01312	T	0.103	0.29403	.	.	0.0138822411134	0.00435	0.0015786287646668746	0.00145	.	.	0.445909142494	0.31386	T	.	.	.	-0.17615	0.24310	T	-0.490804	0.23306	T	0.0638085464059829	0.07754	T	0.121888	0.00944	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.116	0.23500	B	.	.	0.610910	0.09792	6.559	0.89825184067637265	0.19134	0.00196	0.01131	N	AEFDBCI	0.022523	0.01136	N	-1.22540343885655	0.04634	0.2095599	-1.32633955667091	0.04093	0.1923357	0.999959091878699	0.48110	0.562547	0.31514	0	0.653731	0.59785	0	0.634913	0.45138	1	0.264475	0.05362	3	.	.	0.741	-0.249	0.12368	1.331000	0.33398	.	.	0.482000	0.22156	0.001000	0.13787	0.000000	0.08366	0.002000	0.04165	0.0:0.6566:0.0:0.3434	3.115	0.05989	987	0.02648	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.45	11538.0	171	chr3	75736920	.	C	A	11538.0	.	AC=9;AF=0.45;AN=20;BaseQRankSum=0.484;DP=1551;ExcessHet=15.1594;FS=2.12;InbreedingCoeff=-0.8184;MLEAC=9;MLEAF=0.45;MQ=56.17;MQRankSum=-7.049;QD=8.32;ReadPosRankSum=-0.079;SOR=0.71	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:131,40:171:99:0|1:75736920_C_A:1285,0,5353:75736920	1	0	9	0
chr3	75736928	75736928	C	T	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.G2695A:p.V899I,ZNF717:NM_001290208:exon5:c.G2695A:p.V899I,ZNF717:NM_001290209:exon5:c.G2545A:p.V849I	.	411	571	539	1	0	541	0.32145	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.112	0.00121036639884	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs74593105	0.0001	0.0002	0.0001	0.0001	0.0026	0.0001	0.0001	0.0016	0.0013	0.0008	8.267e-05	0	8.274e-05	0	0.0026	8.845e-05	0.0003	0.0004	0.0003	0.0003	0.0002	0.0003	0.0006	0.0002	0.0002	0.0004	0.0004	0.0006	0	0	0	0	0	0	0.0001	0	0.0006	0.38	0.11191	T	0.025	0.56192	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	3.32	0.06214	T	0.07	0.06138	N	0.026	0.00527	-0.9474	0.41414	T	0.008	0.02926	T	9	0.09491852	0.16914	T	0.00121	0.01583	T	0.112	0.31546	.	.	0.0138822411134	0.00435	7.206520044993825E-4	0.00066	.	.	0.389449685812	0.23592	T	.	.	.	-0.217344	0.18358	T	-0.549976	0.17329	T	0.104380803558879	0.12832	T	0.0709929	0.00518	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.082	0.08948	B	.	.	0.653467	0.10217	6.957	0.91771767316116259	0.21074	0.00105	0.00673	N	AEFDBCI	0.020476	0.00813	N	-1.22446334774296	0.04648	0.2101895	-1.31163951798627	0.04279	0.2014874	0.999941810098761	0.47345	0.562547	0.31514	0	0.653731	0.59785	0	0.634913	0.45138	1	0.264475	0.05362	3	.	.	1.29	0.364	0.15359	-0.265000	0.08671	.	.	0.482000	0.22156	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.7401:0.0:0.2599	3.729	0.08012	987	0.02648	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.45	10802.1	180	chr3	75736928	.	C	T	10802.1	.	AC=9;AF=0.45;AN=20;BaseQRankSum=1.91;DP=1530;ExcessHet=15.1594;FS=2.159;InbreedingCoeff=-0.819;MLEAC=9;MLEAF=0.45;MQ=55.62;MQRankSum=-7.245;QD=7.92;ReadPosRankSum=0.071;SOR=0.683	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:138,42:180:99:0|1:75736920_C_A:1339,0,5648:75736920	1	0	9	0
chr3	75737012	75737012	C	T	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.G2611A:p.E871K,ZNF717:NM_001290208:exon5:c.G2611A:p.E871K,ZNF717:NM_001290209:exon5:c.G2461A:p.E821K	.	386	662	466	8	0	482	0.266888	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.117	0.0010545400782	.	.	.	.	.	.	.	.	.	.	0.0444521	1157	26028	rs75096310	0	6.841e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.934	0.02228	T	0.289	0.21078	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	2.16	0.19166	T	-0.66	0.19085	N	0.072	0.04547	-0.9570	0.39735	T	0.015	0.05946	T	9	0.029257268	0.01053	T	0.001055	0.01191	T	0.117	0.32689	.	.	0.0138822411134	0.00435	0.0019455304358727955	0.00180	.	.	0.341237813234	0.16623	T	.	.	.	-0.238107	0.15590	T	-0.5798	0.14563	T	0.0632113878371354	0.07664	T	0.059894	0.00434	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.124	0.26200	B	.	.	1.575632	0.20165	14.62	0.84215655419281732	0.15163	0.00232	0.01297	N	AEFDBHCI	0.027833	0.02344	N	-1.41055986614139	0.02545	0.1125291	-1.43935631045541	0.02868	0.1327212	0.999943869570154	0.47345	0.562547	0.31514	0	0.653731	0.59785	0	0.517114	0.09559	2	0.756233	0.99697	0	.	.	1.92	-0.00832	0.13329	-3.006000	0.00714	.	.	-1.281000	0.01268	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2577:0.4021:0.0:0.3403	2.041	0.03335	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.4	7273.34	218	chr3	75737012	.	C	T	7273.34	.	AC=8;AF=0.4;AN=20;BaseQRankSum=-1.282;DP=1438;ExcessHet=10.3881;FS=0;InbreedingCoeff=-0.6901;MLEAC=8;MLEAF=0.4;MQ=53.79;MQRankSum=-5.048;QD=6.21;ReadPosRankSum=1.1;SOR=0.722	GT:AD:DP:GQ:PL	0/1:159,59:218:99:1347,0,5405	2	0	8	0
chr3	75737060	75737060	A	G	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.T2563C:p.S855P,ZNF717:NM_001290208:exon5:c.T2563C:p.S855P,ZNF717:NM_001290209:exon5:c.T2413C:p.S805P	.	379	596	534	13	0	560	0.319635	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.160	0.000628152010991	.	.	.	.	.	.	.	.	.	.	0.0548256	1427	26028	rs77715040	8.282e-06	8.895e-06	4.114e-06	1.25e-05	1.183e-05	4.42e-06	3.49e-06	5.34e-06	3.9e-06	0	0	0	0	0	0	9.948e-06	0	1.183e-05	1.314e-05	1.313e-05	1.284e-05	1.345e-05	2.939e-05	2.18e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.939e-05	0	0	0.013	0.53900	D	0.003	0.76473	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	3.15	0.07820	T	-3.1	0.63554	D	0.116	0.10483	-1.0427	0.16503	T	0.033	0.14029	T	9	0.09637886	0.17284	T	6.28E-4	0.00319	T	0.160	0.41473	.	.	0.0138822411134	0.00435	0.009052444588593512	0.00868	.	.	0.566062688828	0.48122	T	.	.	.	-0.167764	0.25573	T	-0.478758	0.24578	T	0.297621607780457	0.24905	T	0.79872	0.44372	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.550	0.66781	A	.	.	2.370076	0.30412	18.43	0.98191942080542327	0.39045	0.00784	0.03216	N	AEFDBHCI	0.085768	0.17389	N	-0.771083796564405	0.14068	0.6978022	-0.955324100233036	0.10800	0.5462925	0.999957637849619	0.48110	0.69289	0.55638	0	0.78372	0.99691	0	0.517114	0.09559	2	0.264475	0.05362	3	.	.	1.59	1.59	0.22622	-2.936000	0.00751	.	.	0.610000	0.48991	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	1.0:0.0:0.0:0.0	7.316	0.25675	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.45	10274.0	225	chr3	75737060	.	A	G	10274.0	.	AC=9;AF=0.45;AN=20;BaseQRankSum=-1.615;DP=1524;ExcessHet=15.1594;FS=0;InbreedingCoeff=-0.8182;MLEAC=9;MLEAF=0.45;MQ=54.04;MQRankSum=-5.089;QD=7.54;ReadPosRankSum=0.861;SOR=0.708	GT:AD:DP:GQ:PL	0/1:153,72:225:99:1533,0,5956	1	0	9	0
chr3	75737092	75737092	C	T	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.G2531A:p.C844Y,ZNF717:NM_001290208:exon5:c.G2531A:p.C844Y,ZNF717:NM_001290209:exon5:c.G2381A:p.C794Y	.	382	490	638	12	0	662	0.403167	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.402	0.00342039862449	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs139633377	6.975e-07	1.369e-06	1.383e-06	0	9.107e-07	0	0	.	.	0	0	0	0	0	0	9.107e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.015	0.61642	D	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	-1.94	0.84919	D	-7.52	0.95102	D	0.208	0.23125	-0.0500	0.81206	T	0.770	0.92171	D	9	0.30394778	0.47923	T	0.00342	0.07694	T	0.402	0.71558	.	.	0.578941962908	0.57563	0.02342305612139971	0.02294	.	.	0.721298933029	0.70236	T	.	.	.	0.128852	0.67249	D	-0.0526902	0.66838	D	0.914417432390081	0.57105	D	0.80432	0.45191	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.889	0.82003	P	.	.	2.732693	0.35776	19.99	0.91222742361264963	0.20479	0.19094	0.20525	N	AEFDBHCI	0.116885	0.22922	N	0.127215796981728	0.47735	2.995096	-0.201159305983142	0.31494	1.782947	0.999998666164745	0.74766	0.69289	0.55638	0	0.78372	0.99691	0	0.517114	0.09559	2	0.264475	0.05362	3	.	.	1.46	0.518	0.16228	4.030000	0.56971	.	.	0.487000	0.22268	0.993000	0.37899	0.000000	0.08366	0.025000	0.12405	0.0:0.7965:0.0:0.2035	5.69	0.17097	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	18634.0	209	chr3	75737092	.	C	T	18634.0	.	AC=10;AF=0.5;AN=20;BaseQRankSum=-2.903;DP=1554;ExcessHet=22.563;FS=3.439;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=55.93;MQRankSum=-7.091;QD=12.08;ReadPosRankSum=1.29;SOR=0.972	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:132,77:209:99:0|1:75737092_C_T:2836,0,5311:75737092	0	0	10	0
chr3	75737094	75737094	T	A	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.A2529T:p.R843S,ZNF717:NM_001290208:exon5:c.A2529T:p.R843S,ZNF717:NM_001290209:exon5:c.A2379T:p.R793S	.	386	488	636	12	0	660	0.403423	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.187	0.00139168871644	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs149660902	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.487	0.08067	T	0.021	0.58089	D	.	.	.	.	.	.	.	.	.	.	1	0.29002	N	.	.	.	2.5	0.14408	T	0.12	0.05604	N	0.171	0.18239	-0.9656	0.38092	T	0.015	0.05849	T	9	0.041348934	0.02782	T	0.001392	0.02037	T	0.187	0.46274	.	.	0.0138822411134	0.00435	0.003970010212323737	0.00371	.	.	0.350422680378	0.17984	T	.	.	.	-0.230087	0.16639	T	-0.568281	0.15607	T	0.0363333960522166	0.03039	T	0.50295	0.15803	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.364	0.57473	A	.	.	0.927565	0.13027	9.531	0.78772853777929608	0.12446	0.00288	0.01547	N	AEFDBHCI	0.032938	0.03815	N	-1.56864543804847	0.01428	0.06230873	-1.65490256639135	0.01351	0.06097677	0.999968767302643	0.48965	0.69289	0.55638	0	0.78372	0.99691	0	0.517114	0.09559	2	0.264475	0.05362	3	.	.	1.46	-1.65	0.07849	-1.617000	0.02154	.	.	-1.209000	0.01353	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.2432:0.1819:0.2457:0.3291	0.098	0.00042	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	18621.0	209	chr3	75737094	.	T	A	18621.0	.	AC=10;AF=0.5;AN=20;BaseQRankSum=-2.506;DP=1548;ExcessHet=22.563;FS=4.367;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=56.04;MQRankSum=-7.138;QD=12.06;ReadPosRankSum=1.29;SOR=0.995	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:131,78:209:99:0|1:75737092_C_T:2881,0,5266:75737092	0	0	10	0
chr3	75737105	75737105	T	A	exonic	ZNF717	.	stopgain	ZNF717:NM_001128223:exon5:c.A2518T:p.K840X,ZNF717:NM_001290208:exon5:c.A2518T:p.K840X,ZNF717:NM_001290209:exon5:c.A2368T:p.K790X	.	386	483	643	10	0	663	0.406998	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0502536	1308	26028	rs113251431	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.032	0.00825	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.493707	0.94111	D	0.471	0.94033	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.648710	0.92795	33	0.9890268774789388	0.48217	0.46426	0.27757	N	AEFDBHCI	0.042646	0.06644	N	0.188175099212538	0.50632	3.251287	-0.154561253355241	0.33234	1.898897	0.999999961661622	0.74766	0.69289	0.55638	0	0.78372	0.99691	0	0.517114	0.09559	2	0.264475	0.05362	3	.	.	1.59	1.59	0.22622	3.121000	0.50131	.	.	0.539000	0.25131	1.000000	0.71638	0.000000	0.08366	0.011000	0.09372	0.0:0.0:0.0:1.0	7.316	0.25675	987	0.02648	Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	17689.0	206	chr3	75737105	.	T	A	17689.0	.	AC=10;AF=0.5;AN=20;BaseQRankSum=-2.706;DP=1528;ExcessHet=22.563;FS=6.432;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=56.66;MQRankSum=-8.798;QD=11.61;ReadPosRankSum=0.99;SOR=1.146	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:128,78:206:99:0|1:75737092_C_T:2890,0,5140:75737092	0	0	10	0
chr3	75737127	75737127	A	C	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.T2496G:p.H832Q,ZNF717:NM_001290208:exon5:c.T2496G:p.H832Q,ZNF717:NM_001290209:exon5:c.T2346G:p.H782Q	.	384	545	585	8	0	601	0.355411	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.462	0.0028455442474	.	.	.	.	.	.	.	.	.	.	0.064008	1666	26028	rs79811623	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	-2.18	0.86722	D	-5.94	0.89093	D	0.203	0.22486	0.069	0.83596	D	0.747	0.91362	D	9	0.25438643	0.42818	T	0.002846	0.05956	T	0.462	0.75889	.	.	0.358340041657	0.35441	0.0053718602075851244	0.00508	.	.	0.740122795105	0.72990	T	.	.	.	0.0996688	0.64257	D	-0.0946091	0.63811	T	0.721620917320251	0.41781	D	0.784422	0.42203	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.946	0.86443	P	.	.	1.863242	0.23667	16.11	0.75650377613460507	0.11157	0.04138	0.09621	N	AEFDBHCI	0.080253	0.16223	N	-0.306900910275906	0.28885	1.597038	-0.631394962146373	0.18688	0.9994579	0.99995045990878	0.48110	0.632932	0.41330	0	0.666794	0.63253	0	0.002978	0.00130	3	0.756233	0.99697	0	.	.	1.59	0.372	0.15405	0.061000	0.14242	.	.	0.575000	0.29119	0.037000	0.20830	0.000000	0.08366	0.001000	0.02609	0.8077:0.0:0.1923:0.0	4.797	0.12647	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	15026.0	179	chr3	75737127	.	A	C	15026.0	.	AC=10;AF=0.5;AN=20;BaseQRankSum=-0.995;DP=1458;ExcessHet=22.563;FS=6.735;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=57.36;MQRankSum=-9.527;QD=10.36;ReadPosRankSum=0.724;SOR=1.192	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:112,67:179:99:0|1:75737092_C_T:2476,0,4501:75737092	0	0	10	0
chr3	75737164	75737172	CTACATTCT	-	exonic	ZNF717	.	nonframeshift deletion	ZNF717:NM_001128223:exon5:c.2451_2459del:p.E818_R820del,ZNF717:NM_001290208:exon5:c.2451_2459del:p.E818_R820del,ZNF717:NM_001290209:exon5:c.2301_2309del:p.E768_R770del	.	392	660	463	7	0	477	0.265442	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.012256	319	26028	rs66703079	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.45	8633.98	146	chr3	75737163	.	CCTACATTCT	C	8633.98	.	AC=9;AF=0.45;AN=20;BaseQRankSum=-1.329;DP=1221;ExcessHet=15.1594;FS=11.508;InbreedingCoeff=-0.8182;MLEAC=9;MLEAF=0.45;MQ=57.32;MQRankSum=-10.1;QD=8.13;ReadPosRankSum=-1.292;SOR=1.482	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:98,48:146:99:0|1:75737092_C_T:1721,0,3932:75737092	1	0	9	0
chr3	75737228	75737228	T	C	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.A2395G:p.T799A,ZNF717:NM_001290208:exon5:c.A2395G:p.T799A,ZNF717:NM_001290209:exon5:c.A2245G:p.T749A	.	388	1009	125	0	0	125	0.0583294	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.015	0.00065624303644	.	.	.	.	.	.	.	.	.	.	0.161595	4206	26028	rs80170761	1.428e-06	1.368e-06	1.409e-06	1.447e-06	1.852e-06	2.4e-07	9e-08	3.1e-07	1.2e-07	0	0	0	0	0	0	1.852e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.475	0.08359	T	0.182	0.29249	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	2.5	0.14408	T	-0.37	0.13226	N	0.031	0.00770	-0.9782	0.35413	T	0.017	0.07092	T	9	0.04005146	0.02542	T	6.56E-4	0.00350	T	0.015	0.02232	.	.	0.0138822411134	0.00435	0.0025070030530107983	0.00232	.	.	0.570732712746	0.48781	T	.	.	.	-0.29288	0.09349	T	-0.658479	0.08369	T	0.0214846075820914	0.00852	T	0.448455	0.12604	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.100	0.17189	B	.	.	0.201526	0.05865	2.303	0.46300880358559965	0.03698	0.00280	0.01512	N	AEFDBHCI	0.025509	0.01757	N	-1.44896954151032	0.02225	0.09801469	-1.50829558445683	0.02280	0.1046078	0.999662543695307	0.41534	0.69289	0.55638	0	0.78372	0.99691	0	0.517114	0.09559	2	0.264475	0.05362	3	.	.	1.79	0.509	0.16177	-3.477000	0.00510	.	.	-0.233000	0.07663	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.4406:0.0:0.0:0.5593	4.801	0.12662	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.15	463.95	117	chr3	75737228	.	T	C	463.95	.	AC=3;AF=0.15;AN=20;BaseQRankSum=1.47;DP=1001;ExcessHet=0.7463;FS=19.425;InbreedingCoeff=-0.1905;MLEAC=3;MLEAF=0.15;MQ=57.66;MQRankSum=-8.581;QD=1.45;ReadPosRankSum=-2.284;SOR=2.9	GT:AD:DP:GQ:PL	0/1:103,14:117:99:251,0,4271	7	0	3	0
chr3	75737519	75737519	G	A	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.C2104T:p.P702S,ZNF717:NM_001290208:exon5:c.C2104T:p.P702S,ZNF717:NM_001290209:exon5:c.C1954T:p.P652S,ZNF717:NM_001324027:exon5:c.C2104T:p.P702S	.	378	414	722	8	0	738	0.471264	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.231	0.0020371222204	.	.	.	.	.	.	.	.	.	.	0.0847549	2206	26028	rs80089603	0.0009	0.0009	0.0010	0.0008	0.0241	0.0009	0.0009	0.0227	0.0221	0.0241	0.0014	0.0065	0.0009	0	0.0016	6.293e-05	0.0031	0.0001	0.0071	0.0074	0.0072	0.0070	0.0235	0.0067	0.0066	0.0223	0.0218	0.0235	0	0.0024	0.0084	0.0025	0	0.0034	4.409e-05	0.0071	0.0006	0.014	0.53172	D	0.014	0.62352	D	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	3.28	0.06523	T	-2.65	0.56787	D	0.082	0.05799	-0.9616	0.38877	T	0.011	0.04274	T	9	0.0059270263	0.00133	T	0.002037	0.03721	T	0.231	0.53208	.	.	0.0297737177859	0.01360	0.030845822720570865	0.03033	.	.	0.227284103632	0.01773	T	.	.	.	-0.138909	0.30065	T	-0.437309	0.29111	T	0.612736403942108	0.36911	D	0.140186	0.01129	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.121	0.25166	B	.	.	2.134754	0.27180	17.37	0.9793642767632269	0.36999	0.50764	0.28739	D	AEFDBHCI	0.281183	0.39482	N	-0.656716686745216	0.17265	0.8869353	-0.759493038371137	0.15489	0.8148735	0.999998040796218	0.74766	0.460665	0.09802	0	0.601575	0.49859	0	0.575934	0.27490	0	0.756233	0.99697	0	.	.	1.27	0.281	0.14938	5.209000	0.65041	.	.	0.560000	0.28382	1.000000	0.71638	0.000000	0.08366	0.002000	0.04165	0.0:0.0:0.7085:0.2915	6.406	0.20867	987	0.02648	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	29055.0	242	chr3	75737519	.	G	A	29055.0	.	AC=10;AF=0.5;AN=20;BaseQRankSum=1.23;DP=1778;ExcessHet=22.563;FS=3.187;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=56.52;MQRankSum=-6.977;QD=17.01;ReadPosRankSum=0.822;SOR=0.766	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:134,108:242:99:.:.:4016,0,5123:.	0	0	10	0
chr3	75737590	75737590	A	G	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.T2033C:p.M678T,ZNF717:NM_001290208:exon5:c.T2033C:p.M678T,ZNF717:NM_001290209:exon5:c.T1883C:p.M628T,ZNF717:NM_001324027:exon5:c.T2033C:p.M678T	.	380	344	789	9	0	807	0.539799	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.064	0.000918803670254	.	.	.	.	.	.	.	.	.	.	0.0043031	112	26028	rs79103664	2.155e-06	3.424e-06	1.417e-06	2.914e-06	1.862e-06	5.7e-07	1.6e-07	3.1e-07	1.2e-07	0	0	0	0	0	0	1.862e-06	1.736e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.577	0.06049	T	0.136	0.34009	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	3.17	0.07599	T	0.82	0.01813	N	0.035	0.01004	-0.9135	0.46415	T	0.010	0.03492	T	9	0.047419846	0.04058	T	9.19E-4	0.00889	T	0.064	0.18567	.	.	0.0138822411134	0.00435	0.020703910282481648	0.02023	.	.	0.269451141357	0.06069	T	.	.	.	-0.256687	0.13292	T	-0.606489	0.12271	T	0.0260274478999564	0.01409	T	0.0606939	0.00442	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.140	0.30634	B	.	.	-0.571595	0.01651	0.116	0.41969334367691202	0.03062	0.00342	0.01773	N	AEFDBHCI	0.055927	0.10297	N	-1.5270329997039	0.01674	0.07322606	-1.61933844482173	0.01542	0.06986147	0.999968620109732	0.48965	0.475973	0.10046	0	0.601575	0.49859	0	0.486962	0.07600	0	0.264475	0.05362	3	.	.	1.57	-2.35	0.06302	-4.932000	0.00197	.	.	-1.902000	0.00523	0.000000	0.06391	0.000000	0.08366	0.008000	0.08271	0.5391:0.0:0.0:0.4609	5.111	0.14145	987	0.02648	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	33226.0	257	chr3	75737590	.	A	G	33226.0	.	AC=10;AF=0.5;AN=20;BaseQRankSum=-0.639;DP=2000;ExcessHet=22.563;FS=0.523;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=53.83;MQRankSum=-11.54;QD=16.75;ReadPosRankSum=1.09;SOR=0.75	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:142,115:257:99:0|1:75737590_A_G:4303,0,5617:75737590	0	0	10	0
chr3	75737608	75737608	T	C	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.A2015G:p.K672R,ZNF717:NM_001290208:exon5:c.A2015G:p.K672R,ZNF717:NM_001290209:exon5:c.A1865G:p.K622R,ZNF717:NM_001324027:exon5:c.A2015G:p.K672R	.	399	323	791	9	0	809	0.556014	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.059	0.003971670348	.	.	.	.	.	.	.	.	.	.	0.0466805	1215	26028	rs75759940	4.311e-06	4.109e-06	2.835e-06	5.828e-06	5.588e-06	1.55e-06	1.02e-06	2.01e-06	1.32e-06	0	0	0	0	0	0	5.588e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.027	0.46513	D	0.001	0.83351	D	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	3.16	0.07711	T	-0.9	0.24244	N	0.034	0.00942	-0.9500	0.40972	T	0.008	0.02926	T	9	0.049818516	0.04624	T	0.003972	0.09400	T	0.059	0.16972	.	.	0.0138822411134	0.00435	0.005655336952012324	0.00535	.	.	0.307848095894	0.11582	T	.	.	.	-0.255831	0.13391	T	-0.60526	0.12373	T	0.0589383841193725	0.07000	T	0.19898	0.02226	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.091	0.13268	B	.	.	1.223152	0.16170	12.37	0.86139736186920213	0.16339	0.00629	0.02767	N	AEDBHCI	0.051131	0.09005	N	-1.64554763938136	0.01054	0.04572823	-1.67922087383407	0.01232	0.05551315	0.99998526063166	0.51787	0.475973	0.10046	0	0.601575	0.49859	0	0.486962	0.07600	0	0.264475	0.05362	3	.	.	1.57	-3.14	0.04928	-0.248000	0.08872	.	.	-1.039000	0.01670	0.792000	0.29619	0.000000	0.08366	0.001000	0.02609	0.0:0.4304:0.3244:0.2451	4.750	0.12430	987	0.02648	Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	36674.0	275	chr3	75737608	.	T	C	36674.0	.	AC=10;AF=0.5;AN=20;BaseQRankSum=0.136;DP=2142;ExcessHet=22.563;FS=0;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=53.69;MQRankSum=-12.91;QD=17.15;ReadPosRankSum=0.045;SOR=0.72	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:149,126:275:99:0|1:75737590_A_G:4842,0,5877:75737590	0	0	10	0
chr3	75737622	75737622	T	A	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.A2001T:p.R667S,ZNF717:NM_001290208:exon5:c.A2001T:p.R667S,ZNF717:NM_001290209:exon5:c.A1851T:p.R617S,ZNF717:NM_001324027:exon5:c.A2001T:p.R667S	.	390	339	783	10	0	803	0.542201	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.148	0.00187641351265	.	.	.	.	.	.	.	.	.	.	0.0503688	1311	26028	rs76175438	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	0.49613	D	0.042	0.50226	D	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	2.96	0.09542	T	-3.88	0.72710	D	0.189	0.20660	-1.0544	0.13198	T	0.045	0.19478	T	9	0.11718443	0.22126	T	0.001876	0.03272	T	0.148	0.39182	.	.	0.0138822411134	0.00435	0.02830632002622666	0.02780	.	.	0.34867143631	0.17727	T	.	.	.	-0.180088	0.23722	T	-0.496461	0.22715	T	0.343506299687112	0.26762	T	0.413359	0.10763	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.582	0.68127	P	.	.	2.295364	0.29365	18.10	0.84579906210778943	0.15375	0.01716	0.05441	N	AEFDBHCI	0.093535	0.18923	N	-0.671626443351997	0.16833	0.8611102	-0.960126716317775	0.10688	0.5399544	0.999967844770143	0.48965	0.475973	0.10046	0	0.601575	0.49859	0	0.486962	0.07600	0	0.264475	0.05362	3	.	.	1.71	0.405	0.15579	-1.876000	0.01725	.	.	0.551000	0.28136	0.000000	0.06391	0.000000	0.08366	0.008000	0.08271	0.2583:0.0:0.0:0.7417	5.213	0.14647	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	37943.0	274	chr3	75737622	.	T	A	37943.0	.	AC=10;AF=0.5;AN=20;BaseQRankSum=-1.327;DP=2188;ExcessHet=22.563;FS=0;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=53.99;MQRankSum=-12.64;QD=17.41;ReadPosRankSum=-0.408;SOR=0.657	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:150,124:274:99:0|1:75737590_A_G:4755,0,5925:75737590	0	0	10	0
chr3	75737651	75737651	G	A	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.C1972T:p.R658C,ZNF717:NM_001290208:exon5:c.C1972T:p.R658C,ZNF717:NM_001290209:exon5:c.C1822T:p.R608C,ZNF717:NM_001324027:exon5:c.C1972T:p.R658C	.	400	343	772	7	0	786	0.533967	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.133	0.00153184105349	.	.	.	.	.	.	.	.	.	.	0.0285462	743	26028	rs77826574	6.031e-05	7.327e-05	6.658e-05	5.386e-05	0.0004	4.978e-05	4.582e-05	9.298e-05	6.561e-05	3.182e-05	0.0002	0	5.661e-05	0	0.0004	5.584e-05	0.0001	7.603e-05	5.383e-05	7.906e-05	6.569e-05	4.138e-05	0.0002	2.611e-05	1.869e-05	1.982e-05	1.131e-05	5.043e-05	0	6.658e-05	0	0	0	0	5.922e-05	0	0.0002	0.067	0.35918	T	0.169	0.30534	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	5.42	0.00999	T	-3.07	0.63207	D	0.105	0.08925	-0.8711	0.50446	T	0.003	0.01026	T	9	0.085398704	0.14414	T	0.001532	0.02394	T	0.133	0.36157	.	.	0.0482279557977	0.04254	0.024591376914232316	0.02410	.	.	0.41199272871	0.26732	T	.	.	.	-0.203544	0.20296	T	-0.530154	0.19270	T	0.177544683043135	0.19078	T	0.0464954	0.00331	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.238	0.47195	B	.	.	1.962068	0.24926	16.58	0.86866792728357911	0.16827	0.00357	0.01833	N	AEFDBHCI	0.053804	0.09728	N	-0.680381306712077	0.16582	0.8460908	-0.915126681668579	0.11737	0.5997874	0.999961843561367	0.48965	0.460665	0.09802	0	0.546412	0.12157	0	0.575934	0.27490	0	0.756233	0.99697	0	.	.	1.71	0.774	0.17665	-0.426000	0.07076	.	.	-0.244000	0.07312	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.185:0.0:0.5297:0.2853	2.500	0.04348	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	36785.0	278	chr3	75737651	.	G	A	36785.0	.	AC=10;AF=0.5;AN=20;BaseQRankSum=2.29;DP=2144;ExcessHet=22.563;FS=1.096;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=54.76;MQRankSum=-11.17;QD=17.26;ReadPosRankSum=-0.326;SOR=0.74	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:150,128:278:99:0|1:75737590_A_G:4923,0,5913:75737590	0	0	10	0
chr3	75737676	75737676	A	T	exonic	ZNF717	.	stopgain	ZNF717:NM_001128223:exon5:c.T1947A:p.C649X,ZNF717:NM_001290208:exon5:c.T1947A:p.C649X,ZNF717:NM_001290209:exon5:c.T1797A:p.C599X,ZNF717:NM_001324027:exon5:c.T1947A:p.C649X	.	512	238	765	7	0	779	0.620717	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0560934	1460	26028	rs79635065	0	6.854e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.025	0.00485	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.356406	0.86974	D	0.274176	0.86805	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.913720	0.80871	27.4	0.97584058415749686	0.34753	0.02032	0.06091	N	AEFDBHCI	0.117194	0.22969	N	-0.0787027714682291	0.38328	2.243117	-0.47253526279424	0.22914	1.246949	0.999961225158915	0.48965	0.460665	0.09802	0	0.546412	0.12157	0	0.575934	0.27490	0	0.756233	0.99697	0	.	.	1.71	1.71	0.23429	0.625000	0.24171	.	.	0.517000	0.23534	0.432000	0.26424	0.000000	0.08366	0.002000	0.04165	0.6786:0.0:0.0:0.3214	3.984	0.08997	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	34235.0	265	chr3	75737676	.	A	T	34235.0	.	AC=10;AF=0.5;AN=20;BaseQRankSum=2.48;DP=2005;ExcessHet=22.563;FS=1.748;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=55.4;MQRankSum=-9.806;QD=17.19;ReadPosRankSum=-0.156;SOR=0.655	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:140,125:265:99:0|1:75737590_A_G:4827,0,5502:75737590	0	0	10	0
chr3	75737840	75737840	C	T	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.G1783A:p.E595K,ZNF717:NM_001290208:exon5:c.G1783A:p.E595K,ZNF717:NM_001290209:exon5:c.G1633A:p.E545K,ZNF717:NM_001324027:exon5:c.G1783A:p.E595K	.	370	419	727	6	0	739	0.468611	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.063	0.000881827712362	.	.	.	.	.	.	.	.	.	.	0.0177117	461	26028	rs76496075	2.859e-06	4.104e-06	4.231e-06	1.449e-06	3.707e-06	6.7e-07	4.5e-07	8.7e-07	5.9e-07	0	0	0	0	0	0	3.707e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.099	0.30656	T	0.022	0.57587	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	3.2	0.07236	T	-2.3	0.51157	N	0.164	0.17278	-1.0162	0.24948	T	0.024	0.10058	T	9	0.10873449	0.20253	T	8.82E-4	0.00800	T	0.063	0.18251	.	.	0.0138822411134	0.00435	0.00774685412423065	0.00739	.	.	0.43924510479	0.30473	T	.	.	.	-0.112376	0.34376	T	-0.399197	0.33477	T	0.387678323599846	0.28476	T	0.0947905	0.00704	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.193	0.41357	B	.	.	1.271536	0.16702	12.71	0.99193801633277179	0.55053	0.00456	0.02204	N	AEFDBHCI	0.032518	0.03688	N	-0.56728006039535	0.19945	1.047804	-0.791629829841235	0.14701	0.7694518	0.999948745414493	0.47345	0.0	0.00013	3	0.636889	0.57051	0	0.473483	0.07196	2	0.0	0.00009	3	.	.	1.9	0.993	0.18943	-0.240000	0.08970	.	.	0.415000	0.20742	0.000000	0.06391	0.000000	0.08366	0.023000	0.12082	0.0:0.8279:0.0:0.1721	6.443	0.21064	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	17386.0	242	chr3	75737840	.	C	T	17386.0	.	AC=10;AF=0.5;AN=20;BaseQRankSum=-1.182;DP=1956;ExcessHet=22.563;FS=9.369;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=59.03;MQRankSum=-4.376;QD=9.13;ReadPosRankSum=0.509;SOR=0.968	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:169,73:242:99:0|1:75737814_C_T:2430,0,6473:75737814	0	0	10	0
chr3	75737881	75737881	T	C	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.A1742G:p.H581R,ZNF717:NM_001290208:exon5:c.A1742G:p.H581R,ZNF717:NM_001290209:exon5:c.A1592G:p.H531R,ZNF717:NM_001324027:exon5:c.A1742G:p.H581R	.	356	594	572	0	0	572	0.325	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.389	0.00618583320825	.	.	.	.	.	.	.	.	.	.	0.0154833	403	26028	rs76729736	5.018e-06	5.475e-06	2.829e-06	7.267e-06	8.44e-05	2.09e-06	1.34e-06	2.237e-05	1.22e-05	3.194e-05	0	0	8.44e-05	0	0	0	0	3.792e-05	1.313e-05	1.312e-05	1.284e-05	1.342e-05	0.0002	2.18e-06	8.2e-07	.	.	2.405e-05	0	0	0	0.0002	0	0	0	0	0	0.031	0.45039	D	0.023	0.57104	D	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	-2.18	0.86722	D	-7.28	0.94430	D	0.235	0.26475	0.078	0.83778	D	0.691	0.89323	D	9	0.15374556	0.29014	T	0.006186	0.16200	T	0.389	0.70521	.	.	0.26547132957	0.26150	0.029317279208247043	0.02880	.	.	0.705122470856	0.67885	T	.	.	.	0.0863372	0.62775	D	-0.113759	0.62311	T	0.349910879008873	0.27015	T	0.751425	0.37327	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.804	0.77471	P	.	.	1.529838	0.19634	14.36	0.57541806715571575	0.05792	0.27383	0.23262	N	AEFDBHCIJ	0.135649	0.25605	N	-0.602165132605538	0.18879	0.9837148	-0.767266515667793	0.15298	0.8039007	0.999994431577383	0.74766	0.566229	0.32551	0	0.615513	0.52658	0	0.486962	0.07600	0	0.264475	0.05362	3	.	.	1.76	0.513	0.16200	2.229000	0.42634	.	.	-0.220000	0.07995	1.000000	0.71638	0.067000	0.22148	0.002000	0.04165	0.0:0.1678:0.0:0.8322	5.415	0.15671	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.45	7087.02	239	chr3	75737881	.	T	C	7087.02	.	AC=9;AF=0.45;AN=20;BaseQRankSum=-0.85;DP=1825;ExcessHet=15.1594;FS=14.307;InbreedingCoeff=-0.8182;MLEAC=9;MLEAF=0.45;MQ=58.68;MQRankSum=-7.284;QD=4.57;ReadPosRankSum=-3.421;SOR=1.598	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:188,51:239:99:0|1:75737881_T_C:1460,0,7588:75737881	1	0	9	0
chr3	75737891	75737891	-	AAAT	exonic	ZNF717	.	frameshift insertion	ZNF717:NM_001128223:exon5:c.1731_1732insATTT:p.L578Ifs*16,ZNF717:NM_001290208:exon5:c.1731_1732insATTT:p.L578Ifs*16,ZNF717:NM_001290209:exon5:c.1581_1582insATTT:p.L528Ifs*16,ZNF717:NM_001324027:exon5:c.1731_1732insATTT:p.L578Ifs*16	.	353	691	477	1	0	479	0.257389	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0004995	13	26028	rs369928577	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.45	5707.98	242	chr3	75737891	.	G	GAAAT	5707.98	.	AC=9;AF=0.45;AN=20;BaseQRankSum=1.2;DP=1739;ExcessHet=15.1594;FS=17.592;InbreedingCoeff=-0.8182;MLEAC=9;MLEAF=0.45;MQ=58.4;MQRankSum=-8.904;QD=3.76;ReadPosRankSum=-3.116;SOR=1.724	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:198,44:242:99:0|1:75737881_T_C:1220,0,8114:75737881	1	0	9	0
chr3	75737893	75737893	-	CTT	exonic	ZNF717	.	stopgain	ZNF717:NM_001128223:exon5:c.1729_1730insAAG:p.F577_P914del,ZNF717:NM_001290208:exon5:c.1729_1730insAAG:p.F577_P914del,ZNF717:NM_001290209:exon5:c.1579_1580insAAG:p.F527_P864del,ZNF717:NM_001324027:exon5:c.1729_1730insAAG:p.F577_N798del	.	356	680	485	1	0	487	0.263671	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0023052	60	26028	rs373780316	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.45	5470.98	235	chr3	75737893	.	A	ACTT	5470.98	.	AC=9;AF=0.45;AN=20;BaseQRankSum=0.239;DP=1724;ExcessHet=15.1594;FS=15.802;InbreedingCoeff=-0.8182;MLEAC=9;MLEAF=0.45;MQ=58.33;MQRankSum=-9.24;QD=3.64;ReadPosRankSum=-2.613;SOR=1.744	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:196,39:235:99:0|1:75737881_T_C:1048,0,8101:75737881	1	0	9	0
chr3	75738008	75738008	C	T	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.G1615A:p.E539K,ZNF717:NM_001290208:exon5:c.G1615A:p.E539K,ZNF717:NM_001290209:exon5:c.G1465A:p.E489K,ZNF717:NM_001324027:exon5:c.G1615A:p.E539K	.	374	899	248	1	0	250	0.12207	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.040	0.00103100052401	.	.	0.0035	0	0	0	0	0.0041	0	0.0070	0.0381512	993	26028	rs77322475	0.0003	0.0005	0.0003	0.0004	0.0006	0.0003	0.0003	0.0005	0.0004	0.0002	3.974e-05	0.0002	0	2.459e-05	0	0.0004	0.0002	0.0006	0.0003	0.0004	0.0003	0.0004	0.0054	0.0003	0.0002	0.0038	0.0032	0.0001	0	0	0.0003	0	9.43e-05	0	0.0002	0.0009	0.0054	0.057	0.37966	T	0.059	0.45961	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	3.2	0.07236	T	-2.57	0.55501	D	0.164	0.17278	-0.9770	0.35683	T	0.011	0.04042	T	9	0.006899923	0.00157	T	0.001031	0.01144	T	0.040	0.10527	.	.	0.0138822411134	0.00435	0.004688527706481307	0.00441	.	.	0.455887436867	0.32748	T	.	.	.	-0.247215	0.14443	T	-0.592883	0.13417	T	0.0202189277908029	0.00722	T	0.157184	0.01392	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.163	0.35931	B	.	.	0.663217	0.10314	7.047	0.74861509555931272	0.10855	0.00293	0.01568	N	AEFDBHCIJ	0.019046	0.00627	N	-1.65826808888533	0.01001	0.04337943	-1.78840371790065	0.00797	0.0355687	0.999985886557565	0.51787	0.566229	0.32551	0	0.615513	0.52658	0	0.575934	0.27490	0	0.264475	0.05362	3	.	.	1.8	-3.59	0.04290	-1.723000	0.01966	.	.	-1.085000	0.01553	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.1742:0.3948:0.172:0.259	0.971	0.01326	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.45	3887.02	246	chr3	75738008	.	C	T	3887.02	.	AC=9;AF=0.45;AN=20;BaseQRankSum=-1.756;DP=2102;ExcessHet=15.1594;FS=4.482;InbreedingCoeff=-0.8182;MLEAC=9;MLEAF=0.45;MQ=57.35;MQRankSum=-11.6;QD=2.07;ReadPosRankSum=2.5;SOR=1.183	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:225,21:246:99:0|1:75737994_T_C:205,0,9230:75737994	1	0	9	0
chr3	75738053	75738053	C	A	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.G1570T:p.V524F,ZNF717:NM_001290208:exon5:c.G1570T:p.V524F,ZNF717:NM_001290209:exon5:c.G1420T:p.V474F,ZNF717:NM_001324027:exon5:c.G1570T:p.V524F	.	359	1071	92	0	0	92	0.0411817	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.074	0.00104650146877	.	.	.	.	.	.	.	.	.	.	.	.	.	rs75063165	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.049	0.39820	D	0.157	0.31730	T	.	.	.	.	.	.	.	.	.	.	1	0.19072	N	.	.	.	3.18	0.07478	T	-2.6	0.55983	D	0.148	0.15046	-1.0173	0.24592	T	0.014	0.05753	T	9	0.11586878	0.21842	T	0.001047	0.01191	T	0.074	0.21613	.	.	0.0138822411134	0.00435	0.0034182461744823667	0.00319	.	.	0.563414692879	0.47750	T	.	.	.	-0.246862	0.14487	T	-0.592376	0.13461	T	0.28954122460075	0.24571	T	0.0661934	0.00482	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.411	0.60172	A	.	.	0.533719	0.09024	5.806	0.95230003730299473	0.26460	0.00215	0.01220	N	AEFDBHCIJ	0.026943	0.02113	N	-1.1142521379857	0.06388	0.2939498	-1.36117125995018	0.03676	0.1719606	0.99999365082094	0.74766	0.566229	0.32551	0	0.615513	0.52658	0	0.575934	0.27490	0	0.264475	0.05362	3	.	.	1.79	-3.58	0.04303	-3.170000	0.00633	.	.	-2.136000	0.00379	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.2892:0.3399:0.3708	4.138	0.09647	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.4	2285.98	232	chr3	75738053	.	C	A	2285.98	.	AC=8;AF=0.4;AN=20;BaseQRankSum=-1.929;DP=1985;ExcessHet=10.3881;FS=3.371;InbreedingCoeff=-0.6667;MLEAC=8;MLEAF=0.4;MQ=57.37;MQRankSum=-10.29;QD=1.38;ReadPosRankSum=-1.279;SOR=1.156	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:214,18:232:99:0|1:75737994_T_C:112,0,8932:75737994	2	0	8	0
chr3	75739165	75739165	C	T	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.G458A:p.G153E,ZNF717:NM_001290208:exon5:c.G458A:p.G153E,ZNF717:NM_001290209:exon5:c.G308A:p.G103E,ZNF717:NM_001324027:exon5:c.G458A:p.G153E	.	426	716	379	1	0	381	0.210149	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.131	0.00294703274024	.	.	.	.	.	.	.	.	.	.	0.0484862	1262	26028	rs79165653	3.574e-06	3.42e-06	1.411e-06	5.798e-06	0.0001	1.05e-06	7.6e-07	5.451e-05	3.56e-05	0	0	0	0.0001	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.197	0.20607	T	0.074	0.42976	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.0	0.41392	T	-2.66	0.56945	D	0.098	0.07949	-1.0050	0.28457	T	0.128	0.43625	T	9	0.097314626	0.17517	T	0.002947	0.06280	T	0.131	0.35738	.	.	0.0401082797425	0.02173	0.0035025799895356665	0.00327	.	.	0.341039121151	0.16594	T	.	.	.	-0.112133	0.34416	T	-0.398848	0.33517	T	0.425942718982697	0.29910	T	0.179282	0.01775	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.205	0.43032	B	.	.	0.873037	0.12461	8.992	0.65778472644257657	0.07869	0.01043	0.03895	N	AEFDBCI	.	.	.	-0.639186145779198	0.17776	0.9175853	-0.902737289243841	0.12029	0.6164352	0.999962026466227	0.48965	0.69289	0.55638	0	0.636889	0.57051	0	0.517114	0.09559	2	0.264475	0.05362	3	.	.	2.07	0.059	0.13643	0.766000	0.26225	.	.	0.439000	0.21057	0.011000	0.18532	0.000000	0.08366	0.002000	0.04165	0.0:0.638:0.2172:0.1447	5.008	0.13643	987	0.02648	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.4	2104.98	122	chr3	75739165	.	C	T	2104.98	.	AC=8;AF=0.4;AN=20;BaseQRankSum=0.256;DP=1095;ExcessHet=10.3881;FS=18.333;InbreedingCoeff=-0.6665;MLEAC=8;MLEAF=0.4;MQ=56.69;MQRankSum=-7.997;QD=2.39;ReadPosRankSum=-0.323;SOR=1.354	GT:AD:DP:GQ:PL	0/1:95,27:122:99:495,0,2872	2	0	8	0
chr3	75739283	75739283	G	T	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.C340A:p.Q114K,ZNF717:NM_001290208:exon5:c.C340A:p.Q114K,ZNF717:NM_001290209:exon5:c.C190A:p.Q64K,ZNF717:NM_001324027:exon5:c.C340A:p.Q114K	.	430	419	666	7	0	680	0.447958	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.115	0.00164498502106	.	.	.	.	.	.	.	.	.	.	0.0684647	1782	26028	rs4011155	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.979	0.02012	T	0.602	0.07894	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	0.91	0.44856	T	-0.17	0.09627	N	0.04	0.01347	-1.0394	0.17495	T	0.052	0.22269	T	9	0.04538721	0.03603	T	0.001645	0.02676	T	0.115	0.32236	.	.	0.0138822411134	0.00435	0.01612756142273845	0.01568	.	.	0.421879798174	0.28096	T	.	.	.	-0.0408301	0.45825	T	-0.296426	0.45101	T	0.177929786236283	0.19104	T	0.340666	0.07366	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.205	0.43102	B	.	.	0.246741	0.06266	2.719	0.63846773733670814	0.07333	0.00471	0.02257	N	AEFDBCI	.	.	.	-0.990502388475167	0.08805	0.414299	-1.12680793005723	0.07191	0.3488778	0.99994075275372	0.47345	0.0	0.00013	3	0.636889	0.57051	0	0.002978	0.00130	3	0.264475	0.05362	3	.	.	2.13	-0.13	0.12839	0.783000	0.26463	.	.	0.493000	0.22426	0.008000	0.17931	0.055000	0.21918	0.006000	0.07323	0.0:0.4319:0.5681:0.0	8.996	0.35214	987	0.02648	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.45	4366.02	105	chr3	75739283	.	G	T	4366.02	.	AC=9;AF=0.45;AN=20;BaseQRankSum=-0.947;DP=845;ExcessHet=15.1594;FS=2.771;InbreedingCoeff=-0.8182;MLEAC=9;MLEAF=0.45;MQ=54.79;MQRankSum=-4.843;QD=5.88;ReadPosRankSum=0.209;SOR=0.934	GT:AD:DP:GQ:PL	0/1:78,27:105:99:471,0,2074	1	0	9	0
chr3	98168989	98168989	G	A	exonic	OR5H15	.	nonsynonymous SNV	OR5H15:NM_001005515:exon1:c.G290A:p.C97Y	.	438	1068	15	1	0	17	0.00789596	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.196	0.00203728123573	0.0015	0.00159744	0.0018	0.0005	0.0022	0	0.0054	0.0016	0.0044	0.0022	0.0016753	259	154602	rs146412623	0.0015	0.0015	0.0014	0.0016	0.0102	0.0014	0.0014	0.0081	0.0074	0.0004	0.0023	0.0003	0	0.0052	0.0102	0.0012	0.0021	0.0027	0.0018	0.0018	0.0016	0.0020	0.0025	0.0016	0.0015	0.0019	0.0016	0.0004	0	0.0025	0.0003	0	0.0073	0.0306	0.0017	0.0033	0.0017	.	.	.	.	.	.	1.0	0.90584	D	0.968	0.71741	D	0.000086	0.51296	D	0.000000	0.978844	0.39502	D	3.435	0.92070	M	.	.	.	.	.	.	.	.	-1.0739	0.08577	T	0.007	0.02282	T	10	0.00743711	0.00169	T	0.002037	0.03721	T	.	.	.	.	.	.	0.5112189725855335	0.51043	.	.	0.348762512207	0.17740	T	0.050508	0.28615	T	-0.287144	0.09924	T	-0.190477	0.55545	T	0.162136094477717	0.18027	T	0.877312	0.59062	D	0.89836097	0.91237	0.8071803	0.88721	0.89836097	0.91238	0.8071803	0.88722	-6.894	0.53255	T	.	.	0.367	0.64220	A	.;.	.;.	4.252225	0.64550	24.7	0.94040469554183237	0.24161	0.95905	0.66661	D	AEFI	0.460099	0.51042	N	0.436700168308952	0.63454	4.579256	0.188673312510679	0.49226	3.128339	0.351365062447014	0.19686	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	2.48	2.48	0.29194	7.191000	0.77294	.	.	0.594000	0.32500	1.000000	0.71638	1.000000	0.68203	0.005000	0.06747	0.0:0.0:1.0:0.0	10.707	0.45155	768	0.49510	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	0.011327	0.016129	0.013587	0.024590	0.050000	0.017241	0.000000	0.000000	0.05	4198.43	317	chr3	98168989	.	G	A	4198.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.234;DP=1321;ExcessHet=0;FS=3.02;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=57.07;MQRankSum=-1.432;QD=13.24;ReadPosRankSum=-0.169;SOR=0.542	GT:AD:DP:GQ:PL	0/1:158,159:317:99:4210,0,4196	9	0	1	0
chr3	100167803	100167803	A	G	exonic	CMSS1	.	nonsynonymous SNV	CMSS1:NM_001167924:exon6:c.A427G:p.I143V,CMSS1:NM_032359:exon6:c.A481G:p.I161V	.	435	1086	1	0	0	1	0.000460193	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.029	0.00368959008831	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.422e-06	4.788e-06	2.724e-06	4.127e-06	0.0003	1e-06	7.3e-07	6.098e-05	2.523e-05	0	0	0	0	0	0.0003	8.995e-07	3.315e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.03158	T	1.0	0.02759	T	0.003	0.11197	B	0.007	0.12992	B	0.000357	0.45440	N	0.235139	0.960	0.26183	N	-0.19	0.04217	N	1.75	0.26152	T	0.1	0.06612	N	0.143	0.15609	-1.0162	0.24948	T	0.028	0.11971	T	9	0.07511917	0.11569	T	0.00369	0.08527	T	0.043	0.11576	0.479	0.55823	0.166414681773	0.16258	0.36351041625898667	0.36265	0.0220085759973	0.02206	0.347014456987	0.17481	T	0.007645	0.07409	T	-0.252997	0.13733	T	-0.601189	0.12712	T	0.715753138065338	0.41485	D	0.780422	0.43505	T	0.015987296	0.00169	0.027206045	0.00857	0.015987296	0.00169	0.027206045	0.00857	-3.71	0.21178	T	.	.	0.069	0.06159	B	.;.;.	.;.;.	-0.185819	0.03164	0.515	0.44151591807023882	0.03374	0.16447	0.19393	N	AEFBI	0.070388	0.13970	N	-0.836517581861095	0.12384	0.6033347	-0.720758273349777	0.16444	0.8699359	0.0763593701102711	0.15725	0.732398	0.92422	0	0.743671	0.97443	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	5.62	-0.935	0.09893	0.068000	0.14398	-0.060000	0.12436	-0.566000	0.04804	0.245000	0.24799	0.000000	0.08366	0.918000	0.45347	0.481:0.1427:0.3762:0.0	6.289	0.20257	504	0.75712	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	643.43	73	chr3	100167803	.	A	G	643.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.846;DP=382;ExcessHet=0;FS=0.907;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.81;ReadPosRankSum=0.865;SOR=0.525	GT:AD:DP:GQ:PL	0/1:42,31:73:99:655,0,1033	9	0	1	0
chr3	100775333	100775333	T	C	exonic	ABI3BP	.	nonsynonymous SNV	ABI3BP:NM_015429:exon27:c.A2182G:p.I728V,ABI3BP:NM_001349332:exon28:c.A2257G:p.I753V,ABI3BP:NM_001349331:exon35:c.A2644G:p.I882V,ABI3BP:NM_001365642:exon40:c.A3010G:p.I1004V,ABI3BP:NM_001377332:exon49:c.A3589G:p.I1197V,ABI3BP:NM_001349330:exon54:c.A3913G:p.I1305V,ABI3BP:NM_001349329:exon57:c.A4123G:p.I1375V,ABI3BP:NM_001375549:exon59:c.A4288G:p.I1430V,ABI3BP:NM_001375550:exon59:c.A4294G:p.I1432V,ABI3BP:NM_001375547:exon60:c.A4336G:p.I1446V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.028	0.0042577872272	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.057	0.40832	T	0.851	0.17064	T	0.11	0.26188	B	0.064	0.27215	B	0.129979	0.18676	N	0.542434	0.998149	0.23853	N	2.245	0.63543	M	2.23	0.22881	T	-0.36	0.13035	N	0.238	0.26837	-0.9907	0.32424	T	0.069	0.28113	T	10	0.1329661	0.25307	T	0.004258	0.10310	T	0.028	0.06331	0.178	0.08503	0.536287059136	0.53279	0.1284411164199673	0.12769	0.081923470924	0.09225	0.37267062068	0.21215	T	0.013394	0.13935	T	-0.217609	0.18322	T	-0.550357	0.17292	T	0.24375493824482	0.22591	T	0.640436	0.25296	T	0.023745567	0.01140	0.03538561	0.02781	0.023745567	0.01140	0.03538561	0.02780	.	.	.	.	.	0.112	0.22024	B	.;.;.	.;.;.	1.023665	0.14032	10.60	0.62105742636814754	0.06878	0.33788	0.24913	N	AEFDBIJ	0.088700	0.17982	N	-0.138409453698759	0.35730	2.055995	-0.25515300555331	0.29594	1.659267	0.971890519317384	0.29325	0.732398	0.92422	0	0.573888	0.26702	0	0.547309	0.15389	0	0.727631	0.95156	0	.	.	4.68	-1.84	0.07387	-0.061000	0.11650	0.266000	0.16602	-0.194000	0.09177	0.988000	0.36536	0.994000	0.32194	0.924000	0.46004	0.0:0.5259:0.0:0.4741	9.015	0.35326	722	0.55239	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.45	1170.79	50	chr3	100775333	.	T	C	1170.79	.	AC=9;AF=0.45;AN=20;BaseQRankSum=-1.379;DP=401;ExcessHet=15.1594;FS=290.87;InbreedingCoeff=-0.7983;MLEAC=9;MLEAF=0.45;MQ=60;MQRankSum=0;QD=3.26;ReadPosRankSum=0.5;SOR=9.575	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:36,14:50:99:0|1:100775333_T_C:152,0,722:100775333	1	0	9	0
chr3	105367424	105367424	G	T	exonic	ALCAM	.	nonsynonymous SNV	ALCAM:NM_001243280:exon1:c.G16T:p.A6S,ALCAM:NM_001243281:exon1:c.G16T:p.A6S,ALCAM:NM_001243283:exon1:c.G16T:p.A6S,ALCAM:NM_001627:exon1:c.G16T:p.A6S	.	423	1096	3	0	0	3	0.00136674	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.057	0.00854319541062	.	0.000599042	0.0003	0	0	0	0	9.055e-05	0.0011	0.0016	0.0002393	37	154602	rs538863911	0.0001	0.0001	0.0001	0.0002	0.0017	0.0001	0.0001	0.0014	0.0014	0	4.473e-05	0	0	0	0.0005	5.306e-05	0.0002	0.0017	7.223e-05	7.218e-05	5.14e-05	9.401e-05	0.0010	3.969e-05	3.125e-05	0.0004	0.0003	2.405e-05	0	0	0	0	0	0	7.351e-05	0	0.0010	0.794	0.04094	T	0.608	0.07741	T	0.0	0.02946	B	0.0	0.01387	B	0.909125	0.07404	N	1.037760	1	0.08975	N	-0.69	0.01958	N	0.56	0.54540	T	-0.2	0.10136	N	0.07	0.12627	-1.0301	0.20422	T	0.051	0.21572	T	10	0.006917864	0.00157	T	0.008543	0.22581	T	0.057	0.16321	0.397	0.42426	0.309278343525	0.30543	0.46821152242834674	0.46740	0.184106303703	0.20704	0.324650466442	0.14125	T	0.074996	0.35073	T	-0.534052	0.00364	T	-0.547169	0.17599	T	0.0108904203762694	0.00156	T	0.588541	0.21576	T	0.09024294	0.21109	0.03849031	0.03728	0.09024294	0.21109	0.03849031	0.03728	-2.387	0.05053	T	.	.	0.080	0.08705	B	.;.	.;.	0.613009	0.09813	6.579	0.64893047475216181	0.07620	0.01937	0.05900	N	AEFDGBHCI	0.049525	0.08566	N	-1.1488252207028	0.05799	0.2653136	-1.08297919488875	0.08035	0.3933534	0.999999967232567	0.74766	0.72623	0.87236	0	0.52208	0.09955	0	0.594344	0.31042	0	0.56214	0.19341	0	.	.	5.02	0.317	0.15106	0.268000	0.18336	0.960000	0.22984	0.676000	0.76740	0.601000	0.27755	1.000000	0.68203	0.019000	0.11356	0.1814:0.0:0.3838:0.4348	4.117	0.09555	897	0.25382	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.005051	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.05	343.43	50	chr3	105367424	.	G	T	343.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.86;DP=373;ExcessHet=0;FS=1.2;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=6.87;ReadPosRankSum=-0.011;SOR=0.463	GT:AD:DP:GQ:PL	0/1:35,15:50:99:355,0,896	9	0	1	0
chr3	115676196	115676196	G	C	exonic	GAP43	.	nonsynonymous SNV	GAP43:NM_002045:exon2:c.G214C:p.A72P,GAP43:NM_001130064:exon3:c.G322C:p.A108P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.066	0.0138723661589	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.164e-06	0.0001	6.814e-06	5.506e-06	0.0002	2.9e-06	2.1e-06	2.62e-06	1.69e-06	0	0	0	0	0	0.0002	6.304e-06	1.657e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	0.48186	D	0.116	0.48594	T	0.371	0.34093	B	0.27	0.39872	B	0.026388	0.25927	N	0.380184	1	0.08975	N	1.935	0.51832	L	0.81	0.48460	T	-1.44	0.36385	N	0.115	0.13055	-0.9747	0.36191	T	0.114	0.40559	T	10	0.13199726	0.25123	T	0.013872	0.33594	T	0.066	0.19193	0.401	0.43081	0.482646159919	0.47895	0.13216878396780574	0.13141	0.27922568898	0.30403	0.315461575985	0.12734	T	0.20433	0.56307	T	-0.115191	0.33911	T	-0.403241	0.33007	T	0.650220215320587	0.38471	D	0.59824	0.32735	T	0.29186904	0.52166	0.3267469	0.58579	0.29186904	0.52166	0.3267469	0.58578	-5.243	0.39376	T	.	.	0.142	0.35247	B	.;.	.;.	2.241624	0.28623	17.86	0.9963283397870325	0.76142	0.37808	0.25845	N	AEFBI	0.528119	0.54978	D	-0.309158098030579	0.28799	1.591533	-0.403764697157965	0.24886	1.36534	1.52725511360971E-4	0.05650	0.693126	0.56070	0	0.573888	0.26702	0	0.659464	0.59346	0	0.542086	0.14980	0	.	.	4.62	3.74	0.42108	2.136000	0.41744	2.479000	0.32931	0.676000	0.76740	0.127000	0.23295	0.120000	0.22892	0.064000	0.16252	0.1644:0.1547:0.6809:0.0	6.183	0.19696	935	0.14827	Neuromodulin (GAP-43), C-terminal;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3	184.11	82	chr3	115676196	.	G	C	184.11	.	AC=6;AF=0.3;AN=20;BaseQRankSum=-3.041;DP=817;ExcessHet=4.5998;FS=209.673;InbreedingCoeff=-0.4297;MLEAC=6;MLEAF=0.3;MQ=60;MQRankSum=0;QD=0.42;ReadPosRankSum=0.792;SOR=10.138	GT:AD:DP:GQ:PL	0/1:57,25:82:50:50,0,1268	4	0	6	0
chr3	120348820	120348820	G	T	exonic	LRRC58	.	nonsynonymous SNV	LRRC58:NM_001099678:exon1:c.C424A:p.L142M	.	423	1098	1	0	0	1	0.000455166	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.094	.	0.0002	0.00479233	0.0047	0	0.0005	0	0	0.0001	0.0019	0.0284	0.0027037	418	154602	rs201718706	0.0013	0.0013	0.0007	0.0018	0.0199	0.0012	0.0012	0.0191	0.0188	6.007e-05	0	0	2.531e-05	0	0.0005	5.588e-05	0.0015	0.0199	0.0007	0.0007	0.0004	0.0010	0.0215	0.0006	0.0006	0.0182	0.0169	4.809e-05	0	0	0	0	0	0	2.94e-05	0.0005	0.0215	0.12	0.27904	T	0.176	0.29843	T	0.39	0.34593	B	0.054	0.25828	B	0.000513	0.43753	D	0.157646	0.999998	0.58761	D	1.69	0.43327	L	1.43	0.32958	T	-0.82	0.22508	N	0.296	0.33469	-1.0332	0.19427	T	0.067	0.27640	T	10	0.004650086	0.00097	T	.	.	.	0.094	0.27141	.	.	0.572243253245	0.56891	0.46409336342726676	0.46328	0.888608386309	0.70119	0.748979091644	0.74297	T	0.051475	0.28890	T	-0.466497	0.00895	T	-0.426611	0.30320	T	0.0883715364062966	0.11023	T	0.562444	0.19755	T	0.38406903	0.59609	0.324827	0.58403	0.38406903	0.59609	0.324827	0.58402	-7.235	0.55732	T	.	.	0.159	0.35247	B	.	.	3.683853	0.52454	23.2	0.98044218111631332	0.37812	0.90607	0.51924	D	ALL	0.531011	0.55147	D	0.199467386096281	0.51174	3.300779	0.293701311337298	0.55170	3.680423	0.999999999947096	0.74766	0.441713	0.08003	0	0.484254	0.07192	0	0.52208	0.10781	0	0.372554	0.06265	0	.	.	4.69	3.75	0.42236	4.406000	0.59506	8.071000	0.76440	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:0.7339:0.2661	12.143	0.53314	773	0.48803	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002022	0.000000	0.001359	0.000000	0.000000	0.008621	0.000000	0.007576	0.1	1347.12	45	chr3	120348820	.	G	T	1347.12	.	AC=2;AF=0.1;AN=20;DP=372;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.1;MQ=60;QD=29.94;SOR=1.038	GT:AD:DP:GQ:PL	1/1:0,45:45:99:1370,134,0	9	1	0	0
chr3	121697608	121697608	C	T	exonic	GOLGB1	.	nonsynonymous SNV	GOLGB1:NM_001256488:exon12:c.G2675A:p.S892N,GOLGB1:NM_001366283:exon12:c.G2792A:p.S931N,GOLGB1:NM_001366284:exon12:c.G2675A:p.S892N,GOLGB1:NM_001256486:exon13:c.G2915A:p.S972N,GOLGB1:NM_001256487:exon13:c.G2798A:p.S933N,GOLGB1:NM_001366282:exon13:c.G2915A:p.S972N,GOLGB1:NM_004487:exon13:c.G2900A:p.S967N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.010	0.0055666730905	.	.	0.0002	0	0	0	0	0.0004	0	0	0.0001746	27	154602	rs778004960	6.574e-05	6.636e-05	7.359e-05	5.78e-05	8.457e-05	5.5e-05	5.112e-05	7.05e-05	6.543e-05	2.998e-05	0	0	0	0	0	8.457e-05	1.657e-05	0	1.316e-05	1.314e-05	1.286e-05	1.347e-05	2.942e-05	2.19e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.942e-05	0	0	0.261	0.16738	T	0.371	0.16425	T	0.001	0.07471	B	0.003	0.08700	B	0.408103	0.13033	N	0.739273	1	0.08975	N	1.2	0.30300	L	2.45	0.24472	T	-0.05	0.13418	N	0.083	0.05929	-1.0015	0.29488	T	0.036	0.15334	T	10	0.038387537	0.02253	T	0.005567	0.14379	T	0.010	0.01040	.	.	0.170165803431	0.16609	0.037615456697216235	0.03707	0.0975493673825	0.11016	0.338142246008	0.16160	T	0.011343	0.10136	T	-0.518972	0.00446	T	-0.687051	0.06562	T	0.355778306722641	0.27244	T	0.69713	0.36376	T	0.025965443	0.01596	0.04456666	0.05802	0.025965443	0.01595	0.04456666	0.05802	-3.888	0.22948	T	.	.	0.068	0.03372	B	.;.;.;.	.;.;.;.	-0.165862	0.03270	0.558	0.56106229042003131	0.05481	0.03532	0.08721	N	AEFBI	0.039459	0.05734	N	-1.19125646828008	0.05132	0.2332122	-1.23530746019028	0.05352	0.2547985	0.0878450262559025	0.16045	0.706548	0.73137	0	0.724815	0.89359	0	0.65145	0.50148	0	0.714379	0.83352	0	.	.	5.35	-1.89	0.07271	-2.009000	0.01544	-0.178000	0.11160	-0.176000	0.10722	0.000000	0.06391	0.020000	0.20764	0.881000	0.42162	0.1378:0.2768:0.1232:0.4621	2.032	0.03317	398	0.82839	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	993.31	120	chr3	121697608	.	C	T	993.31	.	AC=7;AF=0.5;AN=14;BaseQRankSum=-2.669;DP=961;ExcessHet=7.0302;FS=290.798;InbreedingCoeff=-0.7391;MLEAC=8;MLEAF=0.571;MQ=60;MQRankSum=0;QD=1.43;ReadPosRankSum=0.85;SOR=11.255	GT:AD:DP:GQ:PL	0/1:76,37:120:63:63,0,1601	0	0	7	3
chr3	127197193	127197193	G	A	exonic	C3orf56	.	nonsynonymous SNV	C3orf56:NM_001007534:exon2:c.G508A:p.V170I	.	421	1097	4	0	0	4	0.00181984	.	.	.	697810	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.018	.	0.0092	0.00698882	0.0073	0.0139	0.0024	0	0.0100	0.0088	0.0070	0.0032	0.007128	1102	154602	rs140075011	0.0087	0.0086	0.0089	0.0085	0.0105	0.0086	0.0085	0.0098	0.0097	0.0105	0.0026	0.0026	0	0.0089	0.0010	0.0099	0.0071	0.0031	0.0087	0.0087	0.0087	0.0087	0.0122	0.0083	0.0082	0.0113	0.0110	0.0122	0.0110	0.0039	0.0026	0	0.0087	0	0.0091	0.0085	0.0029	.	.	.	.	.	.	0.056	0.22806	B	0.024	0.20255	B	.	.	.	.	1	0.08975	N	0.695	0.17993	N	.	.	.	.	.	.	.	.	-1.0534	0.13466	T	0.044	0.18989	T	7	0.005270183	0.00115	T	.	.	.	.	.	.	.	.	.	0.003040988685360038	0.00283	.	.	.	.	.	0.019694	0.15640	T	-0.709891	0.00032	T	-0.781454	0.02410	T	0.0016074938257804	0.00016	T	0.321068	0.06505	T	0.030450528	0.02709	0.031276133	0.01694	0.030450528	0.02709	0.031276133	0.01694	-4.652	0.32818	T	.	.	0.137	0.29941	B	.	.	0.918032	0.12926	9.436	0.42496205648450464	0.03136	0.00825	0.03327	N	AEFBI	0.019135	0.00638	N	-1.70538282108636	0.00823	0.03557855	-1.82017751685251	0.00697	0.03102397	0.0408532815473035	0.14458	0.487112	0.14033	0	0.573888	0.26702	0	0.578056	0.29568	0	0.564101	0.26826	0	.	.	1.95	-1.67	0.07798	0.225000	0.17538	-0.103000	0.11918	-1.803000	0.00622	0.002000	0.15269	0.000000	0.08366	0.000000	0.00833	0.3371:0.1856:0.4774:0.0	4.327	0.10483	923	0.18507	.	ABTB1|MCM2|MCM2|MCM2|ABTB1|MCM2	Adipose_Subcutaneous|Artery_Aorta|Esophagus_Muscularis|Muscle_Skeletal|Muscle_Skeletal|Pancreas	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.05	2181.43	165	chr3	127197193	.	G	A	2181.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=4.63;DP=503;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.22;ReadPosRankSum=0.226;SOR=0.708	GT:AD:DP:GQ:PL	0/1:89,76:165:99:2193,0,2170	9	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.573	0.091247723289	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.258e-05	0.0002	2.676e-05	1.839e-05	9.196e-05	1.634e-05	1.399e-05	2.437e-05	1.642e-05	9.196e-05	0	0	0	0	0	2.708e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.001	0.83351	D	0.813	0.45457	P	0.991	0.79672	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.275	0.90144	M	.	.	.	-4.32	0.78135	D	0.916	0.91852	0.283	0.87277	D	0.586	0.85162	D	9	0.86147714	0.85369	D	0.091248	0.75671	D	0.573	0.82686	0.675	0.81299	0.76620622527	0.76407	0.9592012447472799	0.95906	2.62425591286	0.98291	0.937776684761	0.99368	D	0.171646	0.89009	T	0.407234	0.90327	D	0.347187	0.90207	D	0.99201911687851	0.82399	D	0.982235	0.93989	D	0.61355335	0.73418	0.63325304	0.78597	0.61355335	0.73420	0.63325304	0.78598	-14.305	0.94006	D	0.9309146123572548	0.97183	0.995	0.95337	P	.;.;.	.;.;.	4.978580	0.82446	27.8	0.99818939875784696	0.90238	0.96469	0.69293	D	AEFBCI	0.955470	0.97334	D	0.872628912596572	0.90357	10.36711	0.841034471038791	0.92481	11.45152	0.999999999999953	0.74766	0.706548	0.73137	0	0.672317	0.65289	0	0.724815	0.87919	0	0.638787	0.57140	0	.	.	5.96	5.96	0.96695	8.017000	0.88732	7.920000	0.74475	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.974000	0.55675	0.0:0.0:0.0:1.0	16.434	0.83709	652	0.62785	Translocon Sec61/SecY, plug domain;Translocon Sec61/SecY, plug domain;Translocon Sec61/SecY, plug domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.45	1586.91	59	chr3	128055734	.	T	C	1586.91	.	AC=9;AF=0.45;AN=20;BaseQRankSum=-1.356;DP=621;ExcessHet=15.1594;FS=117.441;InbreedingCoeff=-0.8095;MLEAC=9;MLEAF=0.45;MQ=60;MQRankSum=0;QD=2.85;ReadPosRankSum=0.678;SOR=9.795	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:52,7:59:23:0|1:128055734_T_C:23,0,1979:128055734	1	0	9	0
chr3	130391413	130391413	G	A	exonic	COL6A5	.	nonsynonymous SNV	COL6A5:NM_001278298:exon7:c.G2651A:p.R884H,COL6A5:NM_153264:exon7:c.G2651A:p.R884H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.244	0.0180007718429	.	0.000798722	5.046e-05	0.0005	0	0	0	0	0	0	3.23e-05	5	154602	rs146510478	4.359e-05	4.309e-05	4.23e-05	4.491e-05	0.0010	3.458e-05	3.135e-05	0.0007	0.0006	0.0010	2.801e-05	0	0	0	0.0004	1.576e-05	0.0001	3.786e-05	0.0002	0.0002	0.0003	0.0002	0.0007	0.0002	0.0001	0.0005	0.0005	0.0007	0	0.0001	0	0	0	0	4.409e-05	0	0	0.249	0.17183	T	0.078	0.42261	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	-1.12	0.77593	T	-1.02	0.26843	N	0.062	0.03392	-0.7449	0.58201	T	0.238	0.60583	T	9	0.01564756	0.00328	T	0.018001	0.39912	T	0.244	0.55061	.	.	0.412064437402	0.40821	0.5334292274727841	0.53267	0.0361008489801	0.03815	0.287297159433	0.08529	T	0.094922	0.39516	T	-0.460313	0.00979	T	-0.452998	0.27365	T	0.0359184178312369	0.02967	T	0.665433	0.27458	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.103	0.18456	B	.	.	1.347001	0.17541	13.22	0.99503837446069676	0.68206	0.04253	0.09782	N	AEFBI	0.097420	0.19649	N	-0.587173636650357	0.19333	1.01101	-0.749380467161256	0.15737	0.8291779	0.997659262508063	0.35867	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	5.72	-1.33	0.08693	-0.779000	0.04764	-2.394000	0.03809	0.676000	0.76740	0.000000	0.06391	0.000000	0.08366	0.115000	0.18958	0.1897:0.6308:0.1795:0.0	9.723	0.39479	399	0.82780	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	0	0	.	.	.	.	.	.	.	.	0.05	3205.43	189	chr3	130391413	.	G	A	3205.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.52;DP=612;ExcessHet=0;FS=3.359;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=16.96;ReadPosRankSum=0.336;SOR=0.737	GT:AD:DP:GQ:PL	0/1:76,113:189:99:3217,0,1787	9	0	1	0
chr3	151445177	151445177	C	A	exonic	IGSF10	.	stopgain	IGSF10:NM_001385061:exon5:c.G4804T:p.E1602X,IGSF10:NM_001385060:exon6:c.G4804T:p.E1602X,IGSF10:NM_178822:exon6:c.G4804T:p.E1602X,IGSF10:NM_001385062:exon7:c.G4804T:p.E1602X,IGSF10:NM_001385063:exon7:c.G4804T:p.E1602X	.	436	1084	2	0	0	2	0.000921659	.	.	.	733877	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	.	.	0.0028	0.00279553	0.0026	0.0004	0.0019	0.0037	0.0003	0.0026	0.0011	0.0053	0.0026843	415	154602	rs79363433	0.0035	0.0035	0.0033	0.0036	0.0062	0.0034	0.0033	0.0056	0.0054	0.0004	0.0015	0.0012	0.0062	0.0002	0.0016	0.0036	0.0033	0.0054	0.0022	0.0022	0.0023	0.0020	0.0048	0.0020	0.0019	0.0033	0.0028	0.0006	0.0022	0.0018	0.0012	0.0044	0	0.0102	0.0032	0.0014	0.0048	.	.	.	.	.	.	.	.	.	.	.	.	0.215678	0.16259	N	0.511109	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.045	0.01740	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0410788	0.57187	T	0.287735	0.87534	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive	High	6.472085	0.95267	34	0.98807294647819333	0.46558	0.35912	0.25412	N	AEFBIJ	0.137410	0.25839	N	0.344421690677322	0.58446	4.016855	0.0533158814760486	0.42233	2.550888	0.99998934215917	0.51787	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.542086	0.14980	0	.	.	5.76	4.88	0.63131	1.337000	0.33467	1.298000	0.25456	0.599000	0.40250	0.105000	0.22895	0.006000	0.19429	0.006000	0.07323	0.0:0.8493:0.1507:0.0	14.046	0.64225	813	0.42397	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.002518	0.000000	0.000000	0.002924	0.000000	0.000000	0.009146	0.003788	0.05	2963.43	187	chr3	151445177	.	C	A	2963.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.38;DP=509;ExcessHet=0;FS=9.813;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=15.85;ReadPosRankSum=1.99;SOR=1.112	GT:AD:DP:GQ:PL	0/1:82,105:187:99:2975,0,1976	9	0	1	0
chr3	157381277	157381277	C	T	exonic	VEPH1	.	nonsynonymous SNV	VEPH1:NM_001167911:exon7:c.G1006A:p.D336N,VEPH1:NM_001167912:exon7:c.G1006A:p.D336N,VEPH1:NM_024621:exon7:c.G1006A:p.D336N	.	435	1047	38	2	0	42	0.0196629	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.171	.	0.0022	0.00419329	0.0039	0.0002	0.0019	0.0001	0	0.0032	0.0066	0.0142	0.0036998	572	154602	rs147644993	0.0027	0.0027	0.0022	0.0031	0.0142	0.0026	0.0026	0.0136	0.0133	0.0001	0.0021	0.0136	5.038e-05	0.0003	0.0111	0.0017	0.0031	0.0142	0.0021	0.0021	0.0020	0.0022	0.0135	0.0019	0.0019	0.0109	0.0099	0.0002	0.0033	0.0019	0.0150	0.0002	0.0003	0	0.0023	0.0024	0.0135	0.017	0.51248	D	0.105	0.38016	T	0.996	0.68779	D	0.704	0.54300	P	0.000027	0.55875	D	0.155307	1	0.81001	D	2.16	0.60381	M	1.15	0.38236	T	-2.12	0.48184	N	0.629	0.65587	-0.9070	0.47215	T	0.117	0.41187	T	10	0.0065697134	0.00149	T	.	.	.	0.171	0.43483	.	.	0.537495771734	0.53400	0.42092251994617286	0.42008	0.187423537557	0.21056	0.652817428112	0.60386	T	0.276172	0.64874	T	-0.470392	0.00845	T	-0.436786	0.29169	T	0.0457687581166683	0.04742	T	0.916408	0.70392	D	0.12998919	0.30344	0.12071471	0.29130	0.12998919	0.30344	0.12071471	0.29129	-4.903	0.37876	T	.	.	0.182	0.39562	B	.;.;.	.;.;.	4.533013	0.71174	25.6	0.99764798235684027	0.85335	0.98129	0.79847	D	AEFDBI	0.861417	0.77948	D	0.408562461385877	0.61892	4.396625	0.345439390362581	0.58232	3.992722	0.999999999999002	0.74766	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	7.331000	0.78452	4.881000	0.45666	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.782000	0.36987	0.0:1.0:0.0:0.0	18.345	0.90260	734	0.53889	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.009063	0.000000	0.004076	0.008772	0.000000	0.025862	0.015244	0.018939	0.05	2121.43	164	chr3	157381277	.	C	T	2121.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.64;DP=526;ExcessHet=0;FS=1.944;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.94;ReadPosRankSum=1.71;SOR=0.574	GT:AD:DP:GQ:PL	0/1:85,79:164:99:2133,0,2090	9	0	1	0
chr3	158805435	158805435	T	A	exonic	MFSD1	.	nonsynonymous SNV	MFSD1:NM_001289407:exon3:c.T71A:p.F24Y,MFSD1:NM_022736:exon3:c.T290A:p.F97Y	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.593	0.068504102991	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.012	0.65728	D	1.0	0.90584	D	0.998	0.88582	D	0.000000	0.84330	D	0.048075	1	0.81001	D	3.24	0.89678	M	0.23	0.81235	T	-2.84	0.61865	D	0.802	0.79792	0.697	0.93142	D	0.741	0.91159	D	10	0.8283128	0.82001	D	0.068504	0.70468	D	0.593	0.83802	0.44	0.49484	0.951913928086	0.95140	0.6542273095973397	0.65358	0.333385511375	0.35373	0.752445101738	0.74807	T	0.185162	0.72400	T	0.287375	0.81940	D	0.175018	0.81707	D	0.984993875026703	0.76123	D	0.884412	0.63970	D	0.7559633	0.81216	0.6307889	0.78462	0.7559633	0.81217	0.6307889	0.78463	-13.591	0.92674	D	.	.	0.61	0.76085	P	.;.;.;.;.;.;.	.;.;.;.;.;.;.	5.025106	0.83546	28.1	0.99644822032757652	0.76881	0.97204	0.73304	D	AEFBI	0.940929	0.94355	D	0.894168749288018	0.91470	10.90049	0.831929788912852	0.91919	11.13736	0.999999999998811	0.74766	0.732398	0.92422	0	0.662677	0.63036	0	0.658983	0.55881	0	0.727631	0.95156	0	.	.	5.57	5.57	0.84021	7.713000	0.83653	7.926000	0.74773	0.661000	0.55757	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:0.0:1.0	14.720	0.68912	909	0.22467	.;.;.;.;Major facilitator superfamily domain|Major facilitator superfamily domain;Major facilitator superfamily domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1510.43	144	chr3	158805435	.	T	A	1510.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.15;DP=456;ExcessHet=0;FS=1.312;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.49;ReadPosRankSum=0.335;SOR=0.828	GT:AD:DP:GQ:PL	0/1:78,66:144:99:1522,0,1861	9	0	1	0
chr3	160404347	160404347	T	C	exonic	SMC4	.	nonsynonymous SNV	SMC4:NM_005496:exon4:c.T530C:p.V177A,SMC4:NM_001002800:exon5:c.T530C:p.V177A,SMC4:NM_001288753:exon5:c.T455C:p.V152A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.278	0.0229069441454	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001	0.0054	0.0001	0.0001	0.0001	9.927e-05	9.386e-05	0.0001	0.0001	9.415e-05	0	3.915e-05	7.617e-05	0	0	0.0001	8.551e-05	2.42e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009	0.57480	D	0.032	0.54934	D	0.992	0.64738	D	0.91	0.64641	D	0.000001	0.62929	D	0.056395	1	0.81001	D	2.34	0.67151	M	2.91	0.55945	T	-3.7	0.71157	D	0.795	0.79214	-0.4533	0.70291	T	0.329	0.69682	T	9	0.70917594	0.72932	D	0.022907	0.45838	T	0.278	0.59497	0.521	0.62368	0.709883084589	0.70734	0.460518375338523	0.45969	0.58308373772	0.54039	0.600413441658	0.52963	T	0.47436	0.80584	T	0.112874	0.65647	D	-0.0756403	0.65220	T	0.978100121021271	0.72158	D	0.926107	0.81930	D	0.41292104	0.61618	0.4092579	0.65219	0.41292104	0.61618	0.4092579	0.65219	-9.197	0.69057	D	.	.	0.198	0.63267	B	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	4.808997	0.78220	26.9	0.99886819405452432	0.96204	0.99167	0.92217	D	AEFDGBIJ	0.937139	0.93449	D	0.746699790061011	0.82689	7.825052	0.770386729956323	0.87669	9.303158	0.999999999999999	0.74766	0.736574	0.97449	0	0.672317	0.65289	0	0.732669	0.93749	0	0.273489	0.05413	2	.	.	6.16	6.16	0.99302	7.982000	0.87742	7.911000	0.74030	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:0.0:1.0	16.806	0.85530	744	0.52588	RecF/RecN/SMC, N-terminal;RecF/RecN/SMC, N-terminal;RecF/RecN/SMC, N-terminal;RecF/RecN/SMC, N-terminal;RecF/RecN/SMC, N-terminal;.;.;RecF/RecN/SMC, N-terminal;RecF/RecN/SMC, N-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1	148.14	75	chr3	160404347	.	T	C	148.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-3.969;DP=472;ExcessHet=0.2348;FS=141.343;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=1.11;ReadPosRankSum=1.98;SOR=6.592	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:60,15:75:99:0|1:160404346_G_C:121,0,2035:160404346	8	0	2	0
chr3	169840173	169840173	G	-	exonic	LRRC31	.	frameshift deletion	LRRC31:NM_001277128:exon8:c.1300delC:p.L434Ffs*20,LRRC31:NM_024727:exon9:c.1468delC:p.L490Ffs*20	.	439	1081	2	0	0	2	0.000924214	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.657e-05	0	0	0	0	2.997e-05	0	0	1.29e-05	2	154602	rs756601897	1.505e-05	1.505e-05	9.528e-06	2.063e-05	0.0002	9.85e-06	8.41e-06	1.093e-05	8.81e-06	0	2.236e-05	0	0	0	0.0002	1.709e-05	1.656e-05	0	3.286e-05	3.283e-05	5.14e-05	1.345e-05	5.88e-05	1.261e-05	7.98e-06	1.972e-05	1.124e-05	0	0	0	0	0	0	0	5.88e-05	0.0005	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	1645.39	83	chr3	169840172	.	AG	A	1645.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.985;DP=531;ExcessHet=0;FS=4.237;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=19.82;ReadPosRankSum=-0.721;SOR=0.45	GT:AD:DP:GQ:PL	0/1:32,51:83:99:1657,0,947	9	0	1	0
chr3	180661985	180661985	C	T	exonic	CCDC39	.	nonsynonymous SNV	CCDC39:NM_181426:exon3:c.G233A:p.R78H	Ciliary dyskinesia, primary, 14	1	1503	18	0	0	18	0.00595238	.	.	.	221375	Primary_ciliary_dyskinesia_14|not_specified|not_provided|Primary_ciliary_dyskinesia	MONDO:MONDO:0013434,MedGen:C3151136,OMIM:613807,Orphanet:244|MedGen:CN169374|MedGen:C3661900|Human_Phenotype_Ontology:HP:0012265,MONDO:MONDO:0016575,MedGen:C0008780,OMIM:PS244400,Orphanet:244	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.119	.	0.0055	0.00599042	0.0122	0.0023	0	0	0.0101	0.0112	0.0075	0.0196	0.0044954	695	154602	rs115952495	0.0067	0.0066	0.0064	0.0069	0.0177	0.0065	0.0065	0.0169	0.0166	0.0011	0.0011	0.0161	0.0001	0.0082	0.0021	0.0062	0.0061	0.0177	0.0047	0.0047	0.0046	0.0048	0.0183	0.0044	0.0043	0.0152	0.0140	0.0013	0.0121	0.0007	0.0147	0.0004	0.0088	0	0.0059	0.0028	0.0183	0.419	0.14843	T	0.678	0.06147	T	0.007	0.14184	B	0.004	0.10090	B	0.877839	0.08777	N	0.953795	0.999664	0.21738	N	-0.225	0.03956	N	-1.14	0.77843	T	-1.74	0.41239	N	0.206	0.22870	-0.9124	0.46556	T	0.189	0.54079	T	10	0.0032339096	0.00055	T	.	.	.	0.119	0.33137	.	.	0.646061630353	0.64312	.	.	0.0624283650385	0.06944	0.21579477191	0.01081	T	0.004028	0.03443	T	-0.434208	0.01399	T	-0.38286	0.35386	T	0.00574437150263712	0.00063	T	0.592541	0.21854	T	0.038637057	0.05186	0.04981648	0.07692	0.034333773	0.03834	0.04981648	0.07692	-4.525	0.31214	T	.	.	.	.	.	.;.	.;.	0.823680	0.11949	8.510	0.96993205610494304	0.31912	0.04223	0.09740	N	AEFI	0.063656	0.12314	N	-0.770989148451699	0.14071	0.6979478	-0.64773034688136	0.18274	0.9754879	0.00685963275058952	0.11325	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	5.38	2.63	0.30420	0.724000	0.25624	-0.064000	0.12386	-0.181000	0.10308	0.350000	0.25759	0.000000	0.08366	0.256000	0.23417	0.0:0.2889:0.0:0.7111	8.560	0.32668	524	0.74079	.;.	.	.	.	.	.	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	0.005086	0.000000	0.002755	0.000000	0.000000	0.000000	0.000000	0.019084	0.05	1978.43	145	chr3	180661985	.	C	T	1978.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.13;DP=470;ExcessHet=0;FS=1.374;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.64;ReadPosRankSum=-0.075;SOR=0.573	GT:AD:DP:GQ:PL	0/1:67,78:145:99:1990,0,1428	9	0	1	0
chr3	184240010	184240010	G	A	exonic	VWA5B2	.	nonsynonymous SNV	VWA5B2:NM_001320373:exon13:c.G2060A:p.G687E,VWA5B2:NM_138345:exon15:c.G2714A:p.G905E	.	429	1087	6	0	0	6	0.00275229	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.037	0.003542182129	.	0.000199681	0.0007	0	0	0	0	0	0	0.0017	6.47e-05	10	154602	rs553549547	0.0001	9.577e-05	3.534e-05	0.0002	0.0016	8.636e-05	8.154e-05	0.0014	0.0013	0	0	0	0	0	0.0011	4.641e-06	1.729e-05	0.0016	3.94e-05	3.937e-05	1.285e-05	6.713e-05	0.0010	1.714e-05	1.129e-05	0.0004	0.0003	0	0	0	0	0	0	0	1.47e-05	0	0.0010	1.0	0.00964	T	0.906	0.02996	T	0.003	0.11197	B	0.003	0.08700	B	0.278242	0.14994	N	0.553652	1	0.81001	D	.	.	.	3.11	0.15376	T	0.15	0.05310	N	0.105	0.15328	-0.9912	0.32295	T	0.020	0.08593	T	10	0.008846343	0.00200	T	0.003542	0.08062	T	0.037	0.09474	.	.	0.144782658237	0.14088	0.4314779903202297	0.43064	0.796211368406	0.66052	0.519026637077	0.41489	T	0.010766	0.09688	T	-0.538744	0.00341	T	-0.592197	0.13476	T	0.0301680326296846	0.02016	T	0.656534	0.26618	T	0.042423517	0.06430	0.073265545	0.15901	0.042423517	0.06430	0.073265545	0.15901	-3.404	0.15110	T	.	.	0.094	0.20078	B	.;.	.;.	2.542118	0.32887	19.18	0.77056614838713156	0.11718	0.21009	0.21248	N	AEFDBCI	0.248379	0.36879	N	-0.452705771982135	0.23648	1.271405	-0.265096833274056	0.29256	1.637664	0.797930697821738	0.24134	0.569682	0.32691	0	0.550933	0.16991	0	0.578056	0.29568	0	0.567339	0.31927	0	.	.	4.85	3.04	0.34171	2.692000	0.46685	5.133000	0.47665	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.972000	0.54974	0.2833:0.0:0.7167:0.0	5.483	0.16026	884	0.28482	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	969.43	44	chr3	184240010	.	G	A	969.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.146;DP=343;ExcessHet=0;FS=1.413;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=22.03;ReadPosRankSum=0.399;SOR=0.425	GT:AD:DP:GQ:PL	0/1:13,31:44:99:981,0,400	9	0	1	0
chr3	195778917	195778919	GTG	-	exonic	MUC4	.	nonframeshift deletion	MUC4:NM_018406:exon2:c.12661_12663del:p.H4221del	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.343e-07	6.964e-06	0	1.484e-06	9.482e-07	0	0	.	.	0	0	0	0	0	0	9.482e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	10722.6	312	chr3	195778916	.	CGTG	C	10722.6	.	AC=1;AF=0.05;AN=20;BaseQRankSum=3.03;DP=3562;ExcessHet=1.5895;FS=3.651;InbreedingCoeff=-0.25;MLEAC=1;MLEAF=0.05;MQ=55.65;MQRankSum=2.28;QD=7.86;ReadPosRankSum=12.57;SOR=0.637	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:224,88:312:99:0|1:195778916_CGTG_C:2476,0,7037:195778916	9	0	1	0
chr3	195778917	195778917	G	0	exonic	MUC4	.	.	.	.	505	587	363	23	44	453	0.25837	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2857	6257.75	303	chr3	195778917	.	G	*	6257.75	.	AC=4;AF=0.286;AN=14;BaseQRankSum=5.28;DP=4148;ExcessHet=0.1398;FS=2.47;InbreedingCoeff=0.1246;MLEAC=5;MLEAF=0.357;MQ=56.28;MQRankSum=1.44;QD=3.81;ReadPosRankSum=3.97;SOR=0.889	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:40,88:303:99:0|1:195778917_G_C:7131,3951,5150:195778917	3	0	4	3
chr3	195778921	195778965	CCTGTGGATGCTGAGGAAGTGTCGGTGACAGGAAGAGGGGTGGCG	-	exonic	MUC4	.	frameshift deletion	MUC4:NM_001322468:exon18:c.10503_10518del:p.I3502Pfs*2320	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1464854324	0	3.5e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0625	2269.8	379	chr3	195778920	.	ACCTGTGGATGCTGAGGAAGTGTCGGTGACAGGAAGAGGGGTGGCG	A	2269.8	.	AC=1;AF=0.063;AN=16;BaseQRankSum=-1.037;DP=4144;ExcessHet=0.2348;FS=1.512;InbreedingCoeff=-0.1765;MLEAC=1;MLEAF=0.063;MQ=53.7;MQRankSum=3.52;QD=3.37;ReadPosRankSum=12.72;SOR=0.564	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:291,88:379:99:0|1:195778916_CGTG_C:2280,0,9671:195778916	7	0	1	2
chr3	195778921	195778965	CCTGTGGATGCTGAGGAAGTGTCGGTGACAGGAAGAGGGGTGGCG	0	exonic	MUC4	.	.	.	.	428	1020	58	0	16	74	0.0276454	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	7637.75	379	chr3	195778921	.	CCTGTGGATGCTGAGGAAGTGTCGGTGACAGGAAGAGGGGTGGCG	*	7637.75	.	AC=2;AF=0.1;AN=20;BaseQRankSum=0.395;DP=4407;ExcessHet=1.5895;FS=2.098;InbreedingCoeff=-0.25;MLEAC=2;MLEAF=0.1;MQ=55.25;MQRankSum=4.93;QD=4.67;ReadPosRankSum=14.74;SOR=0.721	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:291,88:379:99:0|1:195778916_CGTG_C:2280,0,9671:195778916	8	0	2	0
chr3	195778940	195779084	TGTCGGTGACAGGAAGAGGGGTGGCGTGACCTGTGGATGCTGAGGAAGTGTCGGTGACAGGAAGAGGGGTGGTGTCACCTGTGGATGCTGAGGAAGTGCTGGTGACAGGAAGAGGGGTGCCGTGACCTGTGGACACTGAGGAAGC	0	exonic	MUC4	.	.	.	.	439	913	123	0	47	170	0.0631093	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	7302.69	315	chr3	195778940	.	TGTCGGTGACAGGAAGAGGGGTGGCGTGACCTGTGGATGCTGAGGAAGTGTCGGTGACAGGAAGAGGGGTGGTGTCACCTGTGGATGCTGAGGAAGTGCTGGTGACAGGAAGAGGGGTGCCGTGACCTGTGGACACTGAGGAAGC	*	7302.69	.	AC=3;AF=0.167;AN=18;BaseQRankSum=3.25;DP=4473;ExcessHet=0.0135;FS=0.519;InbreedingCoeff=0.4302;MLEAC=3;MLEAF=0.167;MQ=54.24;MQRankSum=2.17;QD=4.36;ReadPosRankSum=-1.015;SOR=0.743	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:62,88:315:99:0|1:195778917_G_C:6149,3048,5260:195778917	6	0	3	1
chr3	195779219	195779219	-	CG	exonic	MUC4	.	frameshift insertion	MUC4:NM_018406:exon2:c.12360_12361insCG:p.A4121Rfs*139	.	528	937	55	1	1	58	0.0295184	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0023	0.0010	0.0029	0.0020	0.0007	0.0046	0.0123	0.0003	.	.	.	rs756797051	0.0001	0.0001	0.0001	0.0001	0.0008	0.0001	9.78e-05	0.0004	0.0004	0.0008	0.0001	0.0003	0.0005	8.985e-05	0	9.586e-05	0.0002	5.572e-05	2.658e-05	5.913e-05	1.733e-05	3.626e-05	1.827e-05	7.06e-06	2.96e-06	.	.	0	0	0	0	0	0.0002	0	1.827e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05556	55.01	6	chr3	195779219	.	C	CCG	55.01	.	AC=1;AF=0.056;AN=18;DP=2334;ExcessHet=0;FS=4.771;InbreedingCoeff=-0.0811;MLEAC=1;MLEAF=0.056;MQ=49.49;MQRankSum=-1.834;QD=9.17;SOR=3.258	GT:AD:DP:GQ:PL	0/1:2,4:6:66:66,0,170	8	0	1	1
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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	.	.	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	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.226733	0.414474	0.162338	0.192857	0.500000	0.192308	0.260417	0.166667	0.1875	1008.88	21	chr3	195779374	.	C	A	1008.88	.	AC=3;AF=0.188;AN=16;BaseQRankSum=-3.165;DP=1672;ExcessHet=0;FS=0;InbreedingCoeff=0.5404;MLEAC=3;MLEAF=0.188;MQ=58.32;MQRankSum=-12.35;QD=4.35;ReadPosRankSum=4.14;SOR=0.651	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,21:21:63:1|1:195779228_T_C:945,63,0:195779228	6	1	1	2
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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.018	.	.	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	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.242585	0.405405	0.195035	0.195652	0.416667	0.220000	0.294118	0.169014	0.1875	991.7	23	chr3	195779396	.	C	T	991.7	.	AC=3;AF=0.188;AN=16;BaseQRankSum=-2.859;DP=1661;ExcessHet=0.9691;FS=0.824;InbreedingCoeff=0.0254;MLEAC=3;MLEAF=0.188;MQ=58.18;MQRankSum=-12.3;QD=2.24;ReadPosRankSum=2.41;SOR=0.585	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:2,21:23:21:0|1:195779228_T_C:876,0,21:195779228	5	0	3	2
chr3	195780015	195780016	CA	-	exonic	MUC4	.	frameshift deletion	MUC4:NM_018406:exon2:c.11564_11565del:p.M3855Tfs*6	.	450	1031	0	4	37	45	0.00386473	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0	0	0	0.0006	0.0004	0	0	.	.	.	rs780698820	0.0006	0.0087	0.0006	0.0007	0.0017	0.0006	0.0006	0.0014	0.0012	0.0008	0.0017	0.0005	0	0.0012	0	0.0006	0.0006	6.873e-05	6.722e-05	0.0010	7.552e-05	5.863e-05	9.279e-05	3.089e-05	2.191e-05	3.655e-05	2.366e-05	5.418e-05	0	9.069e-05	0	0	0	0	9.279e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	237.39	7	chr3	195780014	.	GCA	G	237.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.068;DP=2333;ExcessHet=0;FS=0;InbreedingCoeff=-0.0445;MLEAC=1;MLEAF=0.05;MQ=38.49;MQRankSum=-0.366;QD=33.91;ReadPosRankSum=-1.465;SOR=1.179	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:1,6:7:24:0|1:195779995_G_GT:249,0,24:195779995	9	0	1	0
chr3	195780016	195780112	ATGGTGTCACCTGTGGATACTGAGGAAGGGATGGTGACAGGAAGAGGGGTGGCGTGACCTGTGGATGCTGAGGAAGCGTCGGTGACAGGAAGAGGGG	0	exonic	MUC4	.	.	.	.	474	577	408	37	26	508	0.294621	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	6987.42	7	chr3	195780016	.	ATGGTGTCACCTGTGGATACTGAGGAAGGGATGGTGACAGGAAGAGGGGTGGCGTGACCTGTGGATGCTGAGGAAGCGTCGGTGACAGGAAGAGGGG	*	6987.42	.	AC=1;AF=0.05;AN=20;BaseQRankSum=4.31;DP=2746;ExcessHet=0.7463;FS=1.76;InbreedingCoeff=-0.1736;MLEAC=1;MLEAF=0.05;MQ=56.99;MQRankSum=0.806;QD=9.93;ReadPosRankSum=-6.128;SOR=0.834	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:1,6:7:24:0|1:195779995_G_GT:249,0,24:195779995	9	0	1	0
chr3	195780260	195780260	C	T	exonic	MUC4	.	nonsynonymous SNV	MUC4:NM_018406:exon2:c.G11320A:p.A3774T,MUC4:NM_001322468:exon15:c.G9880A:p.A3294T	.	416	1103	2	0	1	3	0.000905797	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.019	0.00373378916317	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1288568337	0.0003	0.0092	0.0003	0.0003	0.0063	0.0003	0.0003	0.0055	0.0052	0.0063	0.0003	0.0002	0.0002	0.0004	0.0010	0.0002	0.0004	0.0002	0.0013	0.0067	0.0011	0.0015	0.0066	0.0011	0.0011	0.0056	0.0052	0.0066	0	0.0005	0	0.0007	0.0001	0	0.0002	0	0	0.668	0.04588	T	0.533	0.10245	T	.	.	.	.	.	.	0.030158	0.25350	N	0.000000	1	0.24871	N	.	.	.	1.16	0.38073	T	0.52	0.04233	N	0.05	0.02179	-1.0443	0.16030	T	0.031	0.13155	T	8	0.012450129	0.00268	T	0.003734	0.08651	T	0.019	0.03383	0.185	0.09388	0.0138822411134	0.00435	1.1575931569856892E-4	0.00010	.	.	0.526827573776	0.42588	T	.	.	.	-0.37807	0.03204	T	-0.780848	0.02427	T	0.0433768115698231	0.04306	T	0.674733	0.28305	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.076	0.05935	B	.;.	.;.	0.017078	0.04400	1.144	0.20734059553184761	0.00759	0.00208	0.01187	N	AEFBCI	0.035755	0.04655	N	-1.81646071188136	0.00506	0.02178056	-1.95379846012863	0.00382	0.0168736	1.18485708032843E-4	0.05269	0.615465	0.37627	0	0.547309	0.14657	0	0.658983	0.55881	0	0.613276	0.41899	0	.	.	.	.	.	-1.002000	0.03796	-3.909000	0.02458	-1.361000	0.01181	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.3341:0.3337:0.3322	2.187	0.03650	601	0.67921	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	242.43	485	chr3	195780260	.	C	T	242.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=4.02;DP=5246;ExcessHet=0;FS=11.49;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=56.08;MQRankSum=-11.3;QD=0.5;ReadPosRankSum=-5.077;SOR=2.054	GT:AD:DP:GQ:PL	0/1:443,42:485:99:254,0,18473	9	0	1	0
chr3	195780526	195780529	TCCG	0	exonic	MUC4	.	.	.	.	603	642	21	1	255	278	0.0175976	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	3539.68	142	chr3	195780526	.	TCCG	*	3539.68	.	AC=4;AF=0.25;AN=16;BaseQRankSum=-0.18;DP=3471;ExcessHet=0;FS=3.005;InbreedingCoeff=0.6337;MLEAC=5;MLEAF=0.313;MQ=52.88;MQRankSum=3.73;QD=7.53;ReadPosRankSum=0.633;SOR=0.55	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:7,135:142:99:1|1:195780526_TCCG_*:14528,865,0:195780526	6	2	0	2
chr3	195781535	195781582	CGGTGACAGGCACAGGGGTGGTGTCACCTGTGGATGCTGAGGAAGGGC	-	exonic	MUC4	.	nonframeshift deletion	MUC4:NM_018406:exon2:c.9998_10045del:p.S3333_D3349delinsN,MUC4:NM_001322468:exon12:c.8819_8845del:p.V2940_A4615delinsGDTTPLPVTDASSASTGHATPLPVTDTSSVSTGHATPLPVTSLSSVSTGDTTPLPVTDASSASTGQATPLPVTSLSSVSTGDTTPLPVTIPSSASSGHTTSLPVTDTSSASTGQATPLPVTSLSSVSTGDTTPLLVTDASSVSTGHATPLPVTDTSSASTGDTTRLPVTDTSSASTGQATPLPVTSLSSVSTGDTTPLLVTNTSSVSRGHATSLPVTIPSSSSSGHTTPLPVTSTSSVSTGHVTPLPVTSTSSASTGHATSLPVTDTSSVSTGHATSLPVTDTSSVSTGHATPLPVTDASSVSTGHATPLPVTDASSASTGDTTPLPVTNTSSASTGQATPLPVTSLSSVSTGDTMPLPVTSPSSASTGHATPLPVTGLSSASTGDTTPLPVTDTSSASTGHVTPLPVTSLSSASTGDSTPLPVTDTSSASTGHVTPLPVTSLSSASTGDTTPLPVTDTSSASTGHATPLHVTDASSASTGQATLLPVTSLSSVSTGDTTPLPVTSPSSASTGHATPLLVTDTSSASTGHATPLPVTDASSVSTGHATSLPVTIRSSGSTGHTTPLPVTDTSSASTGQATSLLVTDTSSVSTGDTTPLPVTSTSSASTGHVTPLHVTSPSSASTGHATPLPVTSLSSASTGDTMPLPVTSPSSASTGDTTPLPVTDASSVSTGHTTPLPVTSPSSASTGHTTPLPVTDTTSASKGDTTPLPVTSPSSASTGHTTPLPVTDTSSASTGDTTPLPVTSPSSASTGHATPLPVTNASSLSTGHATPLHVTSPSSASTGHATPLPVTSTSSASTGHATSLPVTSTSSASTGHATPLPVTDNSSVSTGHATPLPVTGLSSATTDDTTRLPVTDVSSASTGQATPLPVTSLSSVSTGDTTPLPVTSPSSASTGHASPLLVTDASSASTGQATPLPVTDTSSVSTAHATPLPVTGLSSASTDDTTRLPVTDVSSASTGQAIPLPVTSPSSASTGDTTPLPVTDASSASTGDTTSLPVTIPSSASSGHTTSLPVTDASSVSTGHATSLLVTDASSVSTGDTTPLPVTDTNSASTGDTTPLHVTDASSVSTGHATSLPVTSLSSASTGDTTPLPVTSPSSASSGDTTPLPVTDTSSASTGHATHLPVTGLSSASTGDTTRLPVTNVSSASTGHATPLPVTSTSSASTGDTTPLPGTDTSSVSTGHTTPLLVTDASSVSTGDTTRLPVTSPSSASTGHTTPLHVTDASSVSTGHTTPLPVTDTSSASTGQATSLLVTDTSSVSTGDTTPLPVTSTSSASTGHVTPLHVTSPSSASTGHATPLPVTSLSSASTGDTTPLPVTDTSSVSTGHTTPLPVTSPSSASTGHTTPLPVTDTSSASKGDTTPLPVTSPSSASTGHTTPLPVTDTSSASTGDTTPLPVTNASSLSTGHATPLHVTSPSSASTGHATPLPVTSTSSASTGHATPLPVTSTSSASTGHATPLPVTDNSSVSTGHATPLPVTGLSSATTDDTTRLPVTDVSSASTGQATPLPVTSLSSVSTGDTTPLPVTSPSSASTGHASPLLVTDASSASTGQATPLPVTDTSSVSTAHATPLPVTGLSSASTDDTTRLPVTDVSSASTGQAIPLPVTSPSSASTGDTTPLPVTDASSASTGDTTSLPVTIPSSASSGHTTSLPVTDASSVSTGHATSLLVTDASSVSTGDTTPLPVTDTNSASTGDTTPLHVTDASSVSTGHATSLPVTSLSSASTGDTTPLPVTSPSSASSGHTTSLPVTDASSVSTGHATSLPVTIPSSASSGHTTPLPVTDASSVPTGHATSLPVTDASSVSTGHATPLPVTDASSVSTGHATPLPVTDTSSVSTGQATPLPVTSLSSASSTGDTTPLPVTDTSSASTGQDTPLPVTSLFSVSTGDTTPLPVTSPSSASTGHATHLLVTDASSVSTGHATSLLVTDASSVSTGHATALHVTDASSLSTGDTTPLPVTSPSSASTGDTTPLPVTDTSSVSTGHATSLPVTDTSSASTGHATSLPVTDTSSASTGQATPLPVTSPSSASTGHAIPLLVTDTSSASTGQATPLPVTSLSSASTGDTTPLPVTDASSVSTGHATSLPVTSLSSVSTGDTTPLPVTSPSSASTGHATPLHVTSPSSASTGHATPLPVTSLSSASTGDTTPLPVTSPSSASTGHATPLHVTDASSVSTGDTTPLPVTSPSSASSGHTTPLPVTDASSASTGDTTPLPVTDTSSASTGHATHLPVTGLSSASTGDTTRLPVTDVSSASTGHATPLPVTSTSSASTGDTTPLPGTDTSSVSTGHTTPLLVTDASSVSTGDTTRLPVTSPSSASTGHTTPLPVTDTPSASTGDTTPLPVTNASSLSTRHATSLHVTSPSSASTGHATPLPVTDTSAASTGHATPLPVTSTSSASTGDTTPLPVTDTSSASTGHATPLPVTNTSSVSTGHATPLHVTSPSSASTGHTTPLPVTDASSVSTGHATSLPVTDASSVSTGHATPLPVTDASSVSTGHATPLPLTSLSSVSTGDTTPLPVTDTSSASTGQATPLPVTSLSSVSTGDTTPLPVTDTSSASTGHATSLPVTDTSSASTGHATPLPVTDTSSISTGHATPLHVTSPSSASTGHATPLPVTDTSSASTGHATPLPVTSLSSVSTGDTTPLPVTSPSSASTGHATPLLVTDASSASTGQATPLPVTSLSSVSTGDTTPLPVTSPSSASTGHATSLPVTDTSSASTGDTTSLPVTDTSSAYTGDTTSLPVTDTSSSSTGDTTPLLVTETSSASTGDTTPVPVTDTSSVSTGHATPLPVTGLSSASTGDTTRLPVTDISSASTGQATPLPVTNTSSVSTGDTMPLPVTSPSSASTGHATPLPVTSTSSASTGHATPVPVTSTSLASTGHTTPLPVTSPSSASTGHTTPLPVTDTSSASTGDTTPLPVTNASSLSTGHTTPLHVTIPSSASTGDTSTLPVTGASSASTGHATPLPVTDTSSVSTGHATPLPVTSFSSVSTGDTTPLPVTDASSASTGHATPLPVTDTSSASTGDTTPLPVTDASSASTGQATPLPVTSLSSVSTGDTTPLPVTIPSSASSGHTTSLPVSDTSSASTGQATPLPVTSLSSVSTGDTTPLLVTDASSVSTGHATPLPVTDTSSASTGDTTRLPVTDTSSASTGQATPLPVTSLSSVSTGDTTPLLVTNTSSVSTGHATSLPVTIPSSSSSGHTTPLPVTSTSSVSTGHVTPLHVTSPSSSSTGQATPLPVTSTSSVSTGHVTPLHVTSPSSASTGHATPLPVTSTSSASTGHATPLPVTDASSVSTGHATPLPVTDTSSASTGDTTPLPVTDTSSASTGQATPLPVTSLSSVSTGHATPLAVSSATSASTVSSDSPLKMETSGMTTPSLKTDGGRRTATSPPPTTSQTIISTIPSTAMHTRSTAAPIPILPERGVSLFPYGADAGDLEFVRRTVDFTSPLFKPATGFPLGSSLRDSLYFTDNGQIIFPESDYQIFSYPNPLPTGFTGRDPVALVAPFWDDADFSTGRGTTFYQEYETFYGEHSLLVQQAESWIRKMTNNGGYKARWALKVTWVNAHAYPAQWTLGSNTYQAILSTDGSRSYALFLYQSGGMQWDVAQRSGNPVLMGFSSGDGYFENSPLMSQPVWERYRPDRFLNSNSGLQGLQFYRLHREERPNYRLECLQWLKSQPRWPSWGWNQVSCPCSWQQGRRDLRFQPVSIGRWGLGSRQLCSFTSWRGGVCCSYGPWGEFREGWHVQRPWQLAQELEPQSWCCRWNDKPYLCALYQQRRPHVGCATYRPPQPAWMFGDPHITTLDGVSYTFNGLGDFLLVGAQDGNSSFLLQGRTAQTGSAQATNFIAFAAQYRSSSLGPVTVQWLLEPHDAIRVLLDNQTVTFQPDHEDGGGQETFNATGVLLSRNGSEVSASFDGWATVSVIALSNILHASASLPPEYQNRTEGLLGVWNNNPEDDFRMPNGSTIPPGSPEEMLFHFGMTWQINGTGLLGKRNDQLPSNFTPVFYSQLQKNSSWAEHLISNCDGDSSCIYDTLALRNASIGLHTREVSKNYEQANATLNQYPPSINGGRVIEAYKGQTTLIQYTSNAEDANFTLRDSCTDLELFENGTLLWTPKSLEPFTLEILARSAKIGLASALQPRTVVCHCNAESQCLYNQTSRVGNSSLEVAGCKCDGGTFGRYCEGSEDACEEPCFPSVHCVPGKGCEACPPNLTGDGRHCAALGSSFLCQNQSCPVNYCYNQGHCYISQTLGCQPMCTCPPAFTDSRCFLAGNNFSPTVNLELPLRVIQLLLSEEENASMAEVNASVAYRLGTLDMRAFLRNSQVERIDSAAPASGSPIQHWMVISEFQYRPRGPVIDFLNNQLLAAVVEAFLYHVPRRSEEPRNDVVFQPISGEDVRDVTALNVSTLKAYFRCDGYKGYDLVYSPQSGFTCVSPCSRGYCDHGGQCQHLPSGPRCSCVSFSIYTAWGEHCEHLSMKLDAFFGIFFGALGGLLLLGVGTFVVLRFWGCSGARFSYFLNSAEALP*	.	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	1341.39	450	chr3	195781534	.	TCGGTGACAGGCACAGGGGTGGTGTCACCTGTGGATGCTGAGGAAGGGC	T	1341.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=3.7;DP=3374;ExcessHet=0;FS=8.265;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=54.67;MQRankSum=-5.838;QD=2.98;ReadPosRankSum=-4.571;SOR=1.439	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:386,64:450:99:0|1:195781522_A_G:1353,0,15492:195781522	9	0	1	0
chr3	195781535	195781535	C	0	exonic	MUC4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	346.58	450	chr3	195781535	.	C	*	346.58	.	AC=1;AF=0.05;AN=20;DP=3381;ExcessHet=0.2348;FS=6.971;InbreedingCoeff=-0.1111;MLEAC=1;MLEAF=0.05;MQ=57.93;QD=0.44;SOR=1.441	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:386,64:450:99:0|1:195781522_A_G:1353,0,15492:195781522	9	0	1	0
chr3	195781545	195781545	C	0	exonic	MUC4	.	.	.	.	447	984	72	8	11	99	0.0428016	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	100.58	450	chr3	195781545	.	C	*	100.58	.	AC=1;AF=0.05;AN=20;DP=3327;ExcessHet=0.2348;FS=4.98;InbreedingCoeff=-0.1111;MLEAC=1;MLEAF=0.05;MQ=57.65;QD=0.13;SOR=1.452	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:386,64:450:99:0|1:195781522_A_G:1353,0,15492:195781522	9	0	1	0
chr3	195781570	195781666	GCTGAGGAAGGGCTGGTGACATGAAGAGGGGTGGCGTGACCTGTGGATGCTGAGGAAGCGTCGGTGACAAGAAGAGGAGTGGCGTGACCTGTGGATA	0	exonic	MUC4	.	.	.	.	441	758	314	1	8	324	0.172489	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	6752.21	261	chr3	195781570	.	GCTGAGGAAGGGCTGGTGACATGAAGAGGGGTGGCGTGACCTGTGGATGCTGAGGAAGCGTCGGTGACAAGAAGAGGAGTGGCGTGACCTGTGGATA	*	6752.21	.	AC=1;AF=0.05;AN=20;BaseQRankSum=3.71;DP=3743;ExcessHet=2.8389;FS=7.164;InbreedingCoeff=-0.3333;MLEAC=1;MLEAF=0.05;MQ=55.05;MQRankSum=-1.231;QD=2.81;ReadPosRankSum=-3.685;SOR=1.31	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:140,60:261:99:.:.:2147,0,8594:.	9	0	1	0
chr3	195781583	195781583	T	0	exonic	MUC4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.125	10308.7	261	chr3	195781583	.	T	*	10308.7	.	AC=2;AF=0.125;AN=16;BaseQRankSum=0.293;DP=3361;ExcessHet=1.5895;FS=5.126;InbreedingCoeff=-0.3333;MLEAC=2;MLEAF=0.125;MQ=56.7;MQRankSum=2.36;QD=6.55;ReadPosRankSum=-4.267;SOR=0.959	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:140,61:261:99:.:.:1988,0,7221:.	6	0	2	2
chr3	195781618	195781666	GCTGAGGAAGCGTCGGTGACAAGAAGAGGAGTGGCGTGACCTGTGGATA	0	exonic	MUC4	.	.	.	.	469	535	446	20	52	538	0.312339	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.15	32786.1	191	chr3	195781618	.	GCTGAGGAAGCGTCGGTGACAAGAAGAGGAGTGGCGTGACCTGTGGATA	*	32786.1	.	AC=3;AF=0.15;AN=20;BaseQRankSum=-0.448;DP=2955;ExcessHet=0.0072;FS=1.227;InbreedingCoeff=0.5833;MLEAC=3;MLEAF=0.15;MQ=53.45;MQRankSum=1.79;QD=17.97;ReadPosRankSum=2.39;SOR=0.802	GT:AD:DP:GQ:PGT:PID:PL:PS	1/0:14,61:191:99:.:.:6945,4183,5401:.	7	0	3	0
chr3	195781628	195781628	C	0	exonic	MUC4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4	10065.1	198	chr3	195781628	.	C	*	10065.1	.	AC=8;AF=0.4;AN=20;BaseQRankSum=1.47;DP=2902;ExcessHet=0.3131;FS=1.185;InbreedingCoeff=0.2;MLEAC=8;MLEAF=0.4;MQ=56.37;MQRankSum=1.27;QD=4.25;ReadPosRankSum=1.56;SOR=0.79	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:1,189:198:99:1|1:195781522_A_G:8126,528,0:195781522	5	3	2	0
chr3	195782558	195782558	A	0	exonic	MUC4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2222	11362.9	351	chr3	195782558	.	A	*	11362.9	.	AC=4;AF=0.222;AN=18;BaseQRankSum=-0.593;DP=4385;ExcessHet=0.0197;FS=0.624;InbreedingCoeff=0.4872;MLEAC=4;MLEAF=0.222;MQ=56.02;MQRankSum=-7.929;QD=6.56;ReadPosRankSum=2.02;SOR=0.742	GT:AD:DP:GQ:PL	1/0:2,135:351:99:11460,6282,8453	5	0	4	1
chr3	195782605	195782605	A	0	exonic	MUC4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2857	4996.18	186	chr3	195782605	.	A	*	4996.18	.	AC=4;AF=0.286;AN=14;BaseQRankSum=-2.835;DP=4407;ExcessHet=0.0135;FS=1.322;InbreedingCoeff=0.2533;MLEAC=5;MLEAF=0.357;MQ=54.06;MQRankSum=-9.158;QD=4.07;ReadPosRankSum=0.336;SOR=0.814	GT:AD:DP:GQ:PL	1/0:8,135:186:99:5137,653,8543	3	0	4	3
chr3	195782644	195782644	T	0	exonic;splicing	MUC4;MUC4	NM_001322468:exon8:c.8263+1A>0	.	.	.	776	656	77	2	11	92	0.0581479	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2857	569.11	199	chr3	195782644	.	T	*	569.11	.	AC=4;AF=0.286;AN=14;BaseQRankSum=1.31;DP=4848;ExcessHet=3.2736;FS=0;InbreedingCoeff=-0.3919;MLEAC=5;MLEAF=0.357;MQ=54.14;MQRankSum=-5.761;QD=0.28;ReadPosRankSum=1.18;SOR=0.676	GT:AD:DP:GQ:PL	0/1:89,71:199:99:6144,0,8782	3	0	4	3
chr3	195783896	195783896	-	AAGAGGGGTGGCGTGACCGGTGGATGCTGAGGAAGGGCTGGTGACATGAAGAGGGGTGGCATGACCTGTGGATACTGAGGAAGTGTCGGTGACAGA	exonic	MUC4	.	nonframeshift insertion	MUC4:NM_018406:exon2:c.7683_7684insTCTGTCACCGACACTTCCTCAGTATCCACAGGTCATGCCACCCCTCTTCATGTCACCAGCCCTTCCTCAGCATCCACCGGTCACGCCACCCCTCTT:p.L2561_P2562insSVTDTSSVSTGHATPLHVTSPSSASTGHATPL,MUC4:NM_001322468:exon7:c.7635_7636insTCTGTCACCGACACTTCCTCAGTATCCACAGGTCATGCCACCCCTCTTCATGTCACCAGCCCTTCCTCAGCATCCACCGGTCACGCCACCCCTCTT:p.S2547_A4615delinsVTDTSSVSTGHATPLHVTSPSSASTGHATPLSSTGDTTPLLVTETSSASTGHATPLHVTSPSSASTGDTTPVPVTDTSSVSTGHATPLPVTGLSSASTGDTTRLPVTDISSASTGQATPLPVTNTSSASTGHATPLPVTGLSSASTGDTTRLPVTDISSASTGQATPLPVTNTSSVSTGDTMPLPVTSPSSASTGHATPLPVTSTSSASTGHATPVPVTSTSSASTGHTTPLPVTDTSSASTGDTTPLPVTSPSSASTGHTTPLHVTIPSSASTGDTSTLPVTGASSASTGHATPLPVTDTSSVSTGHATPLPVTSFSSVSTGDTTPLPVTDTSSVSTGHATPLPVTSFSSVSTGDTTPLPVTDASSASTGHATPLPVTDTSSVSTGHATPLPLTSLSSVSTGDTTTLPVTDTSSVSTGHATPLPVTSFSSVSTGDTTPLPVTDASSASTGHATPLPVTDTSSVSTGHATPLPVTSLSSVSTGDTTPLPVTDASSASTGQATPLPVTSLSSVSTGDTTPLPVTIPSSASSGHTTSLPVTDTSSASTGQATPLPVTSLSSVSTGDTTPLLVTDASSVSTGHATPLPVTDTSSASTGDTTRLPVTDTSSASTGQATPLPVTSLSSVSTGDTTPLLVTNTSSVSRGHATSLPVTIPSSSSSGHTTPLPVTSTSSVSTGHVTPLPVTSTSSASTGHATSLPVTDTSSVSTGHATSLPVTDTSSVSTGHATPLPVTDASSVSTGHATPLPVTDASSASTGDTTPLPVTNTSSASTGQATPLPVTSLSSVSTGDTMPLPVTSPSSASTGHATPLPVTGLSSASTGDTTPLPVTDTSSASTGHVTPLPVTSLSSASTGDSTPLPVTDTSSASTGHVTPLPVTSLSSASTGDTTPLPVTDTSSASTGHATPLHVTDASSASTGQATLLPVTSLSSVSTGDTTPLPVTSPSSASTGHATPLLVTDTSSASTGHATPLPVTDASSVSTGHATSLPVTIRSSGSTGHTTPLPVTDTSSASTGQATSLLVTDTSSVSTGDTTPLPVTSTSSASTGHVTPLHVTSPSSASTGHATPLPVTSLSSASTGDTMPLPVTSPSSASTGDTTPLPVTDASSVSTGHTTPLPVTSPSSASTGHTTPLPVTDTTSASKGDTTPLPVTSPSSASTGHTTPLPVTDTSSASTGDTTPLPVTSPSSASTGHATPLPVTNASSLSTGHATPLHVTSPSSASTGHATPLPVTSTSSASTGHATSLPVTSTSSASTGHATPLPVTDNSSVSTGHATPLPVTGLSSATTDDTTRLPVTDVSSASTGQATPLPVTSLSSVSTGDTTPLPVTSPSSASTGHASPLLVTDASSASTGQATPLPVTDTSSVSTAHATPLPVTGLSSASTDDTTRLPVTDVSSASTGQAIPLPVTSPSSASTGDTTPLPVTDASSASTGDTTSLPVTIPSSASSGHTTSLPVTDASSVSTGHATSLLVTDASSVSTGDTTPLPVTDTNSASTGDTTPLHVTDASSVSTGHATSLPVTSLSSASTGDTTPLPVTSPSSASSGDTTPLPVTDTSSASTGHATHLPVTGLSSASTGDTTRLPVTNVSSASTGHATPLPVTSTSSASTGDTTPLPGTDTSSVSTGHTTPLLVTDASSVSTGDTTRLPVTSPSSASTGHTTPLHVTDASSVSTGHTTPLPVTDTSSASTGQATSLLVTDTSSVSTGDTTPLPVTSTSSASTGHVTPLHVTSPSSASTGHATPLPVTSLSSASTGDTTPLPVTDTSSVSTGHTTPLPVTSPSSASTGHTTPLPVTDTSSASKGDTTPLPVTSPSSASTGHTTPLPVTDTSSASTGDTTPLPVTNASSLSTGHATPLHVTSPSSASTGHATPLPVTSTSSASTGHATPLPVTSTSSASTGHATPLPVTDNSSVSTGHATPLPVTGLSSATTDDTTRLPVTDVSSASTGQATPLPVTSLSSVSTGDTTPLPVTSPSSASTGHASPLLVTDASSASTGQATPLPVTDTSSVSTAHATPLPVTGLSSASTDDTTRLPVTDVSSASTGQAIPLPVTSPSSASTGDTTPLPVTDASSASTGDTTSLPVTIPSSASSGHTTSLPVTDASSVSTGHATSLLVTDASSVSTGDTTPLPVTDTNSASTGDTTPLHVTDASSVSTGHATSLPVTSLSSASTGDTTPLPVTSPSSASSGHTTSLPVTDASSVSTGHATSLPVTIPSSASSGHTTPLPVTDASSVPTGHATSLPVTDASSVSTGHATPLPVTDASSVSTGHATPLPVTDTSSVSTGQATPLPVTSLSSASSTGDTTPLPVTDTSSASTGQDTPLPVTSLFSVSTGDTTPLPVTSPSSASTGHATHLLVTDASSVSTGHATSLLVTDASSVSTGHATALHVTDASSLSTGDTTPLPVTSPSSASTGDTTPLPVTDTSSVSTGHATSLPVTDTSSASTGHATSLPVTDTSSASTGQATPLPVTSPSSASTGHAIPLLVTDTSSASTGQATPLPVTSLSSASTGDTTPLPVTDASSVSTGHATSLPVTSLSSVSTGDTTPLPVTSPSSASTGHATPLHVTSPSSASTGHATPLPVTSLSSASTGDTTPLPVTSPSSASTGHATPLHVTDASSVSTGDTTPLPVTSPSSASSGHTTPLPVTDASSASTGDTTPLPVTDTSSASTGHATHLPVTGLSSASTGDTTRLPVTDVSSASTGHATPLPVTSTSSASTGDTTPLPGTDTSSVSTGHTTPLLVTDASSVSTGDTTRLPVTSPSSASTGHTTPLPVTDTPSASTGDTTPLPVTNASSLSTRHATSLHVTSPSSASTGHATPLPVTDTSAASTGHATPLPVTSTSSASTGDTTPLPVTDTSSASTGHATPLPVTNTSSVSTGHATPLHVTSPSSASTGHTTPLPVTDASSVSTGHATSLPVTDASSVSTGHATPLPVTDASSVSTGHATPLPLTSLSSVSTGDTTPLPVTDTSSASTGQATPLPVTSLSSVSTGDTTPLPVTDTSSASTGHATSLPVTDTSSASTGHATPLPVTDTSSISTGHATPLHVTSPSSASTGHATPLPVTDTSSASTGHATPLPVTSLSSVSTGDTTPLPVTSPSSASTGHATPLLVTDASSASTGQATPLPVTSLSSVSTGDTTPLPVTSPSSASTGHATSLPVTDTSSASTGDTTSLPVTDTSSAYTGDTTSLPVTDTSSSSTGDTTPLLVTETSSASTGDTTPVPVTDTSSVSTGHATPLPVTGLSSASTGDTTRLPVTDISSASTGQATPLPVTNTSSVSTGDTMPLPVTSPSSASTGHATPLPVTSTSSASTGHATPVPVTSTSLASTGHTTPLPVTSPSSASTGHTTPLPVTDTSSASTGDTTPLPVTNASSLSTGHTTPLHVTIPSSASTGDTSTLPVTGASSASTGHATPLPVTDTSSVSTGHATPLPVTSFSSVSTGDTTPLPVTDASSASTGHATPLPVTDTSSASTGDTTPLPVTDASSASTGQATPLPVTSLSSVSTGDTTPLPVTIPSSASSGHTTSLPVSDTSSASTGQATPLPVTSLSSVSTGDTTPLLVTDASSVSTGHATPLPVTDTSSASTGDTTRLPVTDTSSASTGQATPLPVTSLSSVSTGDTTPLLVTNTSSVSTGHATSLPVTIPSSSSSGHTTPLPVTSTSSVSTGHVTPLHVTSPSSSSTGQATPLPVTSTSSVSTGHVTPLHVTSPSSASTGHATPLPVTSTSSASTGHATPLPVTDASSVSTGHATPLPVTDTSSASTGDTTPLPVTDTSSASTGQATPLPVTSLSSVSTGHATPLAVSSATSASTVSSDSPLKMETSGMTTPSLKTDGGRRTATSPPPTTSQTIISTIPSTAMHTRSTAAPIPILPERGVSLFPYGADAGDLEFVRRTVDFTSPLFKPATGFPLGSSLRDSLYFTDNGQIIFPESDYQIFSYPNPLPTGFTGRDPVALVAPFWDDADFSTGRGTTFYQEYETFYGEHSLLVQQAESWIRKMTNNGGYKARWALKVTWVNAHAYPAQWTLGSNTYQAILSTDGSRSYALFLYQSGGMQWDVAQRSGNPVLMGFSSGDGYFENSPLMSQPVWERYRPDRFLNSNSGLQGLQFYRLHREERPNYRLECLQWLKSQPRWPSWGWNQVSCPCSWQQGRRDLRFQPVSIGRWGLGSRQLCSFTSWRGGVCCSYGPWGEFREGWHVQRPWQLAQELEPQSWCCRWNDKPYLCALYQQRRPHVGCATYRPPQPAWMFGDPHITTLDGVSYTFNGLGDFLLVGAQDGNSSFLLQGRTAQTGSAQATNFIAFAAQYRSSSLGPVTVQWLLEPHDAIRVLLDNQTVTFQPDHEDGGGQETFNATGVLLSRNGSEVSASFDGWATVSVIALSNILHASASLPPEYQNRTEGLLGVWNNNPEDDFRMPNGSTIPPGSPEEMLFHFGMTWQINGTGLLGKRNDQLPSNFTPVFYSQLQKNSSWAEHLISNCDGDSSCIYDTLALRNASIGLHTREVSKNYEQANATLNQYPPSINGGRVIEAYKGQTTLIQYTSNAEDANFTLRDSCTDLELFENGTLLWTPKSLEPFTLEILARSAKIGLASALQPRTVVCHCNAESQCLYNQTSRVGNSSLEVAGCKCDGGTFGRYCEGSEDACEEPCFPSVHCVPGKGCEACPPNLTGDGRHCAALGSSFLCQNQSCPVNYCYNQGHCYISQTLGCQPMCTCPPAFTDSRCFLAGNNFSPTVNLELPLRVIQLLLSEEENASMAEVNASVAYRLGTLDMRAFLRNSQVERIDSAAPASGSPIQHWMVISEFQYRPRGPVIDFLNNQLLAAVVEAFLYHVPRRSEEPRNDVVFQPISGEDVRDVTALNVSTLKAYFRCDGYKGYDLVYSPQSGFTCVSPCSRGYCDHGGQCQHLPSGPRCSCVSFSIYTAWGEHCEHLSMKLDAFFGIFFGALGGLLLLGVGTFVVLRFWGCSGARFSYFLNSAEALP*	.	442	951	27	0	102	129	0.0139969	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0034	0.0029	0.0045	0	0	0.0049	0.0090	0.0027	0.0004916	76	154602	.	0.0040	0.0071	0.0039	0.0042	0.0239	0.0039	0.0039	0.0196	0.0180	0.0026	0.0060	0.0070	0	0.0071	0.0239	0.0037	0.0065	0.0041	0.0018	0.0063	0.0021	0.0015	0.0024	0.0016	0.0015	0.0021	0.0020	0.0010	0.0026	0.0024	0.0003	0	0.0015	0	0.0024	0.0012	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	27926.1	463	chr3	195783896	.	G	GAAGAGGGGTGGCGTGACCGGTGGATGCTGAGGAAGGGCTGGTGACATGAAGAGGGGTGGCATGACCTGTGGATACTGAGGAAGTGTCGGTGACAGA	27926.1	.	AC=5;AF=0.25;AN=20;BaseQRankSum=-1.176;DP=5220;ExcessHet=2.8389;FS=0.604;InbreedingCoeff=-0.3333;MLEAC=5;MLEAF=0.25;MQ=54.7;MQRankSum=-5.849;QD=15.1;ReadPosRankSum=-8.49;SOR=0.707	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:440,21:463:99:.:.:1635,0,17983:.	5	0	5	0
chr3	195785363	195785410	CTGAGGAAGGGTTAGTGACAGGAAGAGGCGTGGTGTCACCTGTGGATA	-	exonic	MUC4	.	nonframeshift deletion	MUC4:NM_018406:exon2:c.6170_6217del:p.V2057_S2072del,MUC4:NM_001322468:exon6:c.6170_6217del:p.H2059_A4615delinsPVTDASSVSTGHATSLPVTDASSVFTGHATSLPVTIPSSASSGHTTPLPVTDASSVSTGHATSLPVTDASSVSTGHATPLPVTDASSVSTGHATPLPVTDTSSVSTGHATPLPLTSLSSVSTGDTTPLPVTDTSSASTGQATPLPVTSLSSVSTGDTTPLPVTDTSSASTGHATSLPVTDTSSASTGHATPLPDTDTSSASTGHATPLPVTDTSSASTGHATLLPVTDTSSASIGHATPLPVTDTSSISTGHATPLHVTSPSSASTGHATPLPVTDTSSASTGHANPLHVTSPSSASTGHATPLPVTDTSSASTGHATPLPVTSLSSVSTGDTTPLPVTSPSSASTGHTTPLPVTDTSSASTGQATALPVTSTSSASTGDTTPLPVTDTSSASTGQATPLPVTSLSSVSTGDTTPLPVTSPSSASTGHATPLLVTDASSASTGQATPLPVTDTSSAYTGDTTSLPVTDTSSSSTGDTTPLLVTETSSASTGHATPLHVTSPSSASTGDTTPVPVTDTSSVSTGHATPLPVTGLSSASTGDTTRLPVTDISSASTGQATPLPVTNTSSASTGHATPLPVTGLSSASTGDTTRLPVTDISSASTGQATPLPVTNTSSVSTGDTMPLPVTSPSSASTGHATPLPVTSTSSASTGHATPVPVTSTSSASTGHTTPLPVTDTSSASTGDTTPLPVTSPSSASTGHTTPLHVTIPSSASTGDTSTLPVTGASSASTGHATPLPVTDTSSVSTGHATPLPVTSFSSVSTGDTTPLPVTDTSSVSTGHATPLPVTSFSSVSTGDTTPLPVTDASSASTGHATPLPVTDTSSVSTGHATPLPLTSLSSVSTGDTTTLPVTDTSSVSTGHATPLPVTSFSSVSTGDTTPLPVTDASSASTGHATPLPVTDTSSVSTGHATPLPVTSLSSVSTGDTTPLPVTDASSASTGQATPLPVTSLSSVSTGDTTPLPVTIPSSASSGHTTSLPVTDTSSASTGQATPLPVTSLSSVSTGDTTPLLVTDASSVSTGHATPLPVTDTSSASTGDTTRLPVTDTSSASTGQATPLPVTSLSSVSTGDTTPLLVTNTSSVSRGHATSLPVTIPSSSSSGHTTPLPVTSTSSVSTGHVTPLPVTSTSSASTGHATSLPVTDTSSVSTGHATSLPVTDTSSVSTGHATPLPVTDASSVSTGHATPLPVTDASSASTGDTTPLPVTNTSSASTGQATPLPVTSLSSVSTGDTMPLPVTSPSSASTGHATPLPVTGLSSASTGDTTPLPVTDTSSASTGHVTPLPVTSLSSASTGDSTPLPVTDTSSASTGHVTPLPVTSLSSASTGDTTPLPVTDTSSASTGHATPLHVTDASSASTGQATLLPVTSLSSVSTGDTTPLPVTSPSSASTGHATPLLVTDTSSASTGHATPLPVTDASSVSTGHATSLPVTIRSSGSTGHTTPLPVTDTSSASTGQATSLLVTDTSSVSTGDTTPLPVTSTSSASTGHVTPLHVTSPSSASTGHATPLPVTSLSSASTGDTMPLPVTSPSSASTGDTTPLPVTDASSVSTGHTTPLPVTSPSSASTGHTTPLPVTDTTSASKGDTTPLPVTSPSSASTGHTTPLPVTDTSSASTGDTTPLPVTSPSSASTGHATPLPVTNASSLSTGHATPLHVTSPSSASTGHATPLPVTSTSSASTGHATSLPVTSTSSASTGHATPLPVTDNSSVSTGHATPLPVTGLSSATTDDTTRLPVTDVSSASTGQATPLPVTSLSSVSTGDTTPLPVTSPSSASTGHASPLLVTDASSASTGQATPLPVTDTSSVSTAHATPLPVTGLSSASTDDTTRLPVTDVSSASTGQAIPLPVTSPSSASTGDTTPLPVTDASSASTGDTTSLPVTIPSSASSGHTTSLPVTDASSVSTGHATSLLVTDASSVSTGDTTPLPVTDTNSASTGDTTPLHVTDASSVSTGHATSLPVTSLSSASTGDTTPLPVTSPSSASSGDTTPLPVTDTSSASTGHATHLPVTGLSSASTGDTTRLPVTNVSSASTGHATPLPVTSTSSASTGDTTPLPGTDTSSVSTGHTTPLLVTDASSVSTGDTTRLPVTSPSSASTGHTTPLHVTDASSVSTGHTTPLPVTDTSSASTGQATSLLVTDTSSVSTGDTTPLPVTSTSSASTGHVTPLHVTSPSSASTGHATPLPVTSLSSASTGDTTPLPVTDTSSVSTGHTTPLPVTSPSSASTGHTTPLPVTDTSSASKGDTTPLPVTSPSSASTGHTTPLPVTDTSSASTGDTTPLPVTNASSLSTGHATPLHVTSPSSASTGHATPLPVTSTSSASTGHATPLPVTSTSSASTGHATPLPVTDNSSVSTGHATPLPVTGLSSATTDDTTRLPVTDVSSASTGQATPLPVTSLSSVSTGDTTPLPVTSPSSASTGHASPLLVTDASSASTGQATPLPVTDTSSVSTAHATPLPVTGLSSASTDDTTRLPVTDVSSASTGQAIPLPVTSPSSASTGDTTPLPVTDASSASTGDTTSLPVTIPSSASSGHTTSLPVTDASSVSTGHATSLLVTDASSVSTGDTTPLPVTDTNSASTGDTTPLHVTDASSVSTGHATSLPVTSLSSASTGDTTPLPVTSPSSASSGHTTSLPVTDASSVSTGHATSLPVTIPSSASSGHTTPLPVTDASSVPTGHATSLPVTDASSVSTGHATPLPVTDASSVSTGHATPLPVTDTSSVSTGQATPLPVTSLSSASSTGDTTPLPVTDTSSASTGQDTPLPVTSLFSVSTGDTTPLPVTSPSSASTGHATHLLVTDASSVSTGHATSLLVTDASSVSTGHATALHVTDASSLSTGDTTPLPVTSPSSASTGDTTPLPVTDTSSVSTGHATSLPVTDTSSASTGHATSLPVTDTSSASTGQATPLPVTSPSSASTGHAIPLLVTDTSSASTGQATPLPVTSLSSASTGDTTPLPVTDASSVSTGHATSLPVTSLSSVSTGDTTPLPVTSPSSASTGHATPLHVTSPSSASTGHATPLPVTSLSSASTGDTTPLPVTSPSSASTGHATPLHVTDASSVSTGDTTPLPVTSPSSASSGHTTPLPVTDASSASTGDTTPLPVTDTSSASTGHATHLPVTGLSSASTGDTTRLPVTDVSSASTGHATPLPVTSTSSASTGDTTPLPGTDTSSVSTGHTTPLLVTDASSVSTGDTTRLPVTSPSSASTGHTTPLPVTDTPSASTGDTTPLPVTNASSLSTRHATSLHVTSPSSASTGHATPLPVTDTSAASTGHATPLPVTSTSSASTGDTTPLPVTDTSSASTGHATPLPVTNTSSVSTGHATPLHVTSPSSASTGHTTPLPVTDASSVSTGHATSLPVTDASSVSTGHATPLPVTDASSVSTGHATPLPLTSLSSVSTGDTTPLPVTDTSSASTGQATPLPVTSLSSVSTGDTTPLPVTDTSSASTGHATSLPVTDTSSASTGHATPLPVTDTSSISTGHATPLHVTSPSSASTGHATPLPVTDTSSASTGHATPLPVTSLSSVSTGDTTPLPVTSPSSASTGHATPLLVTDASSASTGQATPLPVTSLSSVSTGDTTPLPVTSPSSASTGHATSLPVTDTSSASTGDTTSLPVTDTSSAYTGDTTSLPVTDTSSSSTGDTTPLLVTETSSASTGDTTPVPVTDTSSVSTGHATPLPVTGLSSASTGDTTRLPVTDISSASTGQATPLPVTNTSSVSTGDTMPLPVTSPSSASTGHATPLPVTSTSSASTGHATPVPVTSTSLASTGHTTPLPVTSPSSASTGHTTPLPVTDTSSASTGDTTPLPVTNASSLSTGHTTPLHVTIPSSASTGDTSTLPVTGASSASTGHATPLPVTDTSSVSTGHATPLPVTSFSSVSTGDTTPLPVTDASSASTGHATPLPVTDTSSASTGDTTPLPVTDASSASTGQATPLPVTSLSSVSTGDTTPLPVTIPSSASSGHTTSLPVSDTSSASTGQATPLPVTSLSSVSTGDTTPLLVTDASSVSTGHATPLPVTDTSSASTGDTTRLPVTDTSSASTGQATPLPVTSLSSVSTGDTTPLLVTNTSSVSTGHATSLPVTIPSSSSSGHTTPLPVTSTSSVSTGHVTPLHVTSPSSSSTGQATPLPVTSTSSVSTGHVTPLHVTSPSSASTGHATPLPVTSTSSASTGHATPLPVTDASSVSTGHATPLPVTDTSSASTGDTTPLPVTDTSSASTGQATPLPVTSLSSVSTGHATPLAVSSATSASTVSSDSPLKMETSGMTTPSLKTDGGRRTATSPPPTTSQTIISTIPSTAMHTRSTAAPIPILPERGVSLFPYGADAGDLEFVRRTVDFTSPLFKPATGFPLGSSLRDSLYFTDNGQIIFPESDYQIFSYPNPLPTGFTGRDPVALVAPFWDDADFSTGRGTTFYQEYETFYGEHSLLVQQAESWIRKMTNNGGYKARWALKVTWVNAHAYPAQWTLGSNTYQAILSTDGSRSYALFLYQSGGMQWDVAQRSGNPVLMGFSSGDGYFENSPLMSQPVWERYRPDRFLNSNSGLQGLQFYRLHREERPNYRLECLQWLKSQPRWPSWGWNQVSCPCSWQQGRRDLRFQPVSIGRWGLGSRQLCSFTSWRGGVCCSYGPWGEFREGWHVQRPWQLAQELEPQSWCCRWNDKPYLCALYQQRRPHVGCATYRPPQPAWMFGDPHITTLDGVSYTFNGLGDFLLVGAQDGNSSFLLQGRTAQTGSAQATNFIAFAAQYRSSSLGPVTVQWLLEPHDAIRVLLDNQTVTFQPDHEDGGGQETFNATGVLLSRNGSEVSASFDGWATVSVIALSNILHASASLPPEYQNRTEGLLGVWNNNPEDDFRMPNGSTIPPGSPEEMLFHFGMTWQINGTGLLGKRNDQLPSNFTPVFYSQLQKNSSWAEHLISNCDGDSSCIYDTLALRNASIGLHTREVSKNYEQANATLNQYPPSINGGRVIEAYKGQTTLIQYTSNAEDANFTLRDSCTDLELFENGTLLWTPKSLEPFTLEILARSAKIGLASALQPRTVVCHCNAESQCLYNQTSRVGNSSLEVAGCKCDGGTFGRYCEGSEDACEEPCFPSVHCVPGKGCEACPPNLTGDGRHCAALGSSFLCQNQSCPVNYCYNQGHCYISQTLGCQPMCTCPPAFTDSRCFLAGNNFSPTVNLELPLRVIQLLLSEEENASMAEVNASVAYRLGTLDMRAFLRNSQVERIDSAAPASGSPIQHWMVISEFQYRPRGPVIDFLNNQLLAAVVEAFLYHVPRRSEEPRNDVVFQPISGEDVRDVTALNVSTLKAYFRCDGYKGYDLVYSPQSGFTCVSPCSRGYCDHGGQCQHLPSGPRCSCVSFSIYTAWGEHCEHLSMKLDAFFGIFFGALGGLLLLGVGTFVVLRFWGCSGARFSYFLNSAEALP*	.	439	1067	8	0	8	16	0.00373483	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1038	.	0.0026	0.0034	0.0020	0	0.0050	0.0036	0.0039	0.0009	.	.	.	rs779281839	4.13e-05	0.0003	3.778e-05	4.493e-05	0.0007	3.262e-05	2.932e-05	0.0002	0.0001	6.538e-05	2.942e-05	0	0	2.118e-05	0.0007	3.809e-05	7.157e-05	6.563e-05	6.181e-05	0.0007	7.557e-05	4.743e-05	0.0002	3.054e-05	2.216e-05	6.249e-05	4.057e-05	0.0002	0	7.759e-05	0	0	0	0	3.253e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	352.39	1015	chr3	195785362	.	GCTGAGGAAGGGTTAGTGACAGGAAGAGGCGTGGTGTCACCTGTGGATA	G	352.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=5.29;DP=5989;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=56.35;MQRankSum=-11.03;QD=0.35;ReadPosRankSum=-6.007;SOR=0.744	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:939,76:1015:99:0|1:195785310_G_A:364,0,39189:195785310	9	0	1	0
chr3	195785364	195785364	T	0	exonic	MUC4	.	.	.	.	441	974	97	0	10	107	0.0474328	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	5614.58	1015	chr3	195785364	.	T	*	5614.58	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.855;DP=6000;ExcessHet=0.2348;FS=1.596;InbreedingCoeff=-0.1111;MLEAC=1;MLEAF=0.05;MQ=56.74;MQRankSum=0.658;QD=3.57;ReadPosRankSum=-4.95;SOR=0.905	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:939,76:1015:99:0|1:195785310_G_A:364,0,39189:195785310	9	0	1	0
chr3	195785371	195785371	G	0	exonic	MUC4	.	.	.	.	5	198	22	0	1	23	0.0526316	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	5763.94	1015	chr3	195785371	.	G	*	5763.94	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.78;DP=5992;ExcessHet=1.5895;FS=3.979;InbreedingCoeff=-0.25;MLEAC=1;MLEAF=0.05;MQ=56.49;MQRankSum=-5.797;QD=2.75;ReadPosRankSum=-4.675;SOR=1.12	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:939,76:1015:99:0|1:195785310_G_A:364,0,39189:195785310	9	0	1	0
chr3	195785372	195785372	G	0	exonic	MUC4	.	.	.	.	529	885	99	0	9	108	0.0529695	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	5107.58	1015	chr3	195785372	.	G	*	5107.58	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.48;DP=5964;ExcessHet=0.2348;FS=1.65;InbreedingCoeff=-0.1111;MLEAC=1;MLEAF=0.05;MQ=56.64;MQRankSum=0.08;QD=3.29;ReadPosRankSum=-5.81;SOR=0.929	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:939,76:1015:99:0|1:195785310_G_A:364,0,39189:195785310	9	0	1	0
chr3	195785374	195785374	T	0	exonic	MUC4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	185681.0	800	chr3	195785374	.	T	*	185681.0	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.74;DP=5961;ExcessHet=0;FS=2.066;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=56.63;MQRankSum=-0.238;QD=32.44;ReadPosRankSum=0.555;SOR=0.289	GT:AD:DP:GQ:PL	0/1:3,71:800:99:26595,24802,30998	9	0	1	0
chr3	195787220	195787224	TGTGA	-	exonic	MUC4	.	frameshift deletion	MUC4:NM_018406:exon2:c.4356_4360del:p.T1454Pfs*30,MUC4:NM_001322468:exon5:c.4356_4360del:p.T1453Hfs*24	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	0	0	0	0	0	0	0	.	.	.	rs780499376	5.497e-05	0.0005	4.775e-05	6.154e-05	0.0004	3.854e-05	3.331e-05	0.0001	7.193e-05	0.0004	0	6.827e-05	0	0	0	6.96e-05	0	1.93e-05	0	0.0012	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	70.23	13	chr3	195787219	.	GTGTGA	G	70.23	.	AC=2;AF=0.1;AN=20;BaseQRankSum=2.41;DP=134;ExcessHet=0.2348;FS=5.192;InbreedingCoeff=-0.117;MLEAC=2;MLEAF=0.1;MQ=38.66;MQRankSum=0.785;QD=1.85;ReadPosRankSum=-0.778;SOR=1.981	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:11,2:13:51:0|1:195787173_C_A:51,0,456:195787173	8	0	2	0
chr3	195787220	195787220	T	0	exonic	MUC4	.	.	.	.	716	790	14	0	2	16	0.00878294	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1111	97.35	13	chr3	195787220	.	T	*	97.35	.	AC=2;AF=0.111;AN=18;BaseQRankSum=0.484;DP=136;ExcessHet=0.8432;FS=7.592;InbreedingCoeff=-0.2142;MLEAC=2;MLEAF=0.111;MQ=37.83;MQRankSum=0.605;QD=1.95;ReadPosRankSum=-2.189;SOR=2.448	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:11,2:13:51:0|1:195787173_C_A:51,0,456:195787173	7	0	2	1
chr3	195787221	195787221	G	0	exonic	MUC4	.	.	.	.	710	796	14	0	2	16	0.00871731	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1111	99.34	13	chr3	195787221	.	G	*	99.34	.	AC=2;AF=0.111;AN=18;BaseQRankSum=1.2;DP=134;ExcessHet=0.8432;FS=7.731;InbreedingCoeff=-0.2142;MLEAC=2;MLEAF=0.111;MQ=37.38;MQRankSum=0.728;QD=2.07;ReadPosRankSum=-2.189;SOR=2.566	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:11,2:13:51:0|1:195787173_C_A:51,0,456:195787173	7	0	2	1
chr3	195787579	195787579	-	T	exonic	MUC4	.	frameshift insertion	MUC4:NM_018406:exon2:c.4000_4001insA:p.P1334Hfs*8,MUC4:NM_001322468:exon4:c.4000_4001insA:p.D1334Efs*11	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	0.0003	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	5.19e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	1207.13	3	chr3	195787579	.	G	GT	1207.13	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.431;DP=745;ExcessHet=0.0952;FS=7.978;InbreedingCoeff=0.3407;MLEAC=1;MLEAF=0.05;MQ=49.95;MQRankSum=0.967;QD=2.23;ReadPosRankSum=-0.967;SOR=1.217	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:1,2:3:36:0|1:195787579_G_GT:71,0,36:195787579	9	0	1	0
chr3	195787581	195787581	G	T	exonic	MUC4	.	nonsynonymous SNV	MUC4:NM_018406:exon2:c.C3999A:p.S1333R,MUC4:NM_001322468:exon4:c.C3999A:p.S1333R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.015	0.00110280102791	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	0.0003	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	3.677e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.013	0.53900	D	0.041	0.50514	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.49	0.31731	T	-0.17	0.09627	N	0.198	0.21839	-1.0141	0.25625	T	0.036	0.15465	T	8	0.0774422	0.12223	T	0.001103	0.01312	T	0.015	0.02232	0.21	0.12781	0.0138822411134	0.00435	4.4130657041117525E-4	0.00040	.	.	0.462559700012	0.33662	T	.	.	.	-0.298795	0.08773	T	-0.666975	0.07803	T	0.150897771120071	0.17175	T	0.790621	0.43132	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.582	0.68118	P	.;.	.;.	1.242694	0.16388	12.51	0.75544770927572757	0.11116	0.00436	0.02133	N	AEFI	0.059611	0.11271	N	-1.18801605713749	0.05181	0.2355576	-1.29824619942719	0.04454	0.2101604	1.17149535638799E-5	0.02871	0.428477	0.06694	0	0.547309	0.14657	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	0.312	0.312	0.15082	-0.698000	0.05194	-2.483000	0.03699	0.061000	0.17545	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.0:0.4559:0.544:1.0E-4	4.075	0.09376	604	0.67577	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	59.43	3	chr3	195787581	.	G	T	59.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.967;DP=741;ExcessHet=0.2065;FS=4.68;InbreedingCoeff=0.2001;MLEAC=1;MLEAF=0.05;MQ=34.84;MQRankSum=0.967;QD=0.12;ReadPosRankSum=-0.967;SOR=1.121	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:1,2:3:36:0|1:195787579_G_GT:71,0,36:195787579	9	0	1	0
chr3	195788180	195788180	C	T	exonic	MUC4	.	nonsynonymous SNV	MUC4:NM_018406:exon2:c.G3400A:p.A1134T,MUC4:NM_001322468:exon4:c.G3400A:p.A1134T	.	470	951	19	0	82	101	0.00989068	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000	.	.	0.000998403	0.0111	0.0095	0.0213	0.0462	0.0024	0.0159	0	0.0060	0.0014295	221	154602	rs79645763	0.0003	0.0059	0.0003	0.0003	0.0027	0.0003	0.0003	0.0021	0.0019	0.0006	0.0004	0.0007	0.0027	0.0011	0.0005	0.0002	0.0006	8.487e-05	0.0038	0.0092	0.0037	0.0038	0.0071	0.0034	0.0033	0.0044	0.0035	0.0032	0.0082	0.0020	0.0037	0.0071	0.0066	0	0.0040	0.0042	0.0024	0.788	0.03218	T	0.072	0.43344	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.59	0.29085	T	-0.13	0.08971	N	0.049	0.05670	-1.0145	0.25497	T	0.033	0.14203	T	8	0.00656271	0.00149	T	.	.	.	0.000	0.00003	.	.	0.0138822411134	0.00435	0.003076283846689497	0.00286	.	.	0.321211725473	0.13606	T	.	.	.	-0.369551	0.03617	T	-0.768611	0.02814	T	0.00730006613025309	0.00084	T	0.650635	0.26150	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.076	0.06114	B	.;.	.;.	0.065437	0.04751	1.376	0.90268847605123925	0.19538	0.00053	0.00405	N	AEFBI	0.030727	0.03149	N	-1.33967753435907	0.03233	0.1440755	-1.46984832069324	0.02595	0.1196181	1.98884394019904E-5	0.02871	0.615465	0.37627	0	0.588066	0.40923	0	0.658983	0.55881	0	0.613276	0.41899	0	.	.	0.814	-1.63	0.07900	-4.258000	0.00301	-0.347000	0.09772	-1.291000	0.01255	0.000000	0.06391	0.001000	0.17328	0.002000	0.04165	0.2638:0.3161:0.0:0.4201	1.939	0.03140	604	0.67577	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.004065	0.010989	0.005597	0.000000	0.000000	0.000000	0.003968	0.000000	0.1	200.14	182	chr3	195788180	.	C	T	200.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=3.14;DP=3127;ExcessHet=0.2348;FS=52.072;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=56.08;MQRankSum=-7.094;QD=0.58;ReadPosRankSum=-1.241;SOR=4.333	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:166,16:182:99:0|1:195788077_G_A:172,0,6922:195788077	8	0	2	0
chr3	195788183	195788183	G	C	exonic	MUC4	.	nonsynonymous SNV	MUC4:NM_018406:exon2:c.C3397G:p.H1133D,MUC4:NM_001322468:exon4:c.C3397G:p.H1133D	.	458	976	6	0	82	88	0.00306435	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.027	.	.	.	0.0072	0.0052	0.0132	0.0269	0.0018	0.0104	0	0.0043	0.000925	143	154602	rs755264800	0.0001	0.0050	0.0001	0.0002	0.0011	0.0001	0.0001	0.0008	0.0007	0.0003	0.0001	0.0002	0.0011	0.0005	0.0003	0.0001	0.0002	1.356e-05	0.0015	0.0045	0.0014	0.0015	0.0025	0.0013	0.0012	0.0015	0.0014	0.0007	0.0028	0.0010	0.0014	0.0025	0.0027	0	0.0018	0.0034	0.0008	1.0	0.00964	T	0.488	0.11691	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.58	0.29085	T	-0.3	0.11913	N	0.172	0.27197	-1.0240	0.22410	T	0.035	0.14987	T	8	0.004650831	0.00097	T	.	.	.	0.027	0.05988	0.212	0.13066	0.0138822411134	0.00435	0.012443506741045308	0.01203	.	.	0.346953630447	0.17472	T	.	.	.	-0.378935	0.03164	T	-0.782091	0.02391	T	0.0449845124125565	0.04599	T	0.531447	0.17660	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.095	0.14797	B	.;.	.;.	1.334099	0.17395	13.14	0.75021871002754792	0.10915	0.00019	0.00214	N	AEFBI	0.020795	0.00858	N	-1.2886627646921	0.03810	0.1709067	-1.45455562657595	0.02729	0.1260527	1.89401554455299E-5	0.02871	0.615465	0.37627	0	0.588066	0.40923	0	0.658983	0.55881	0	0.613276	0.41899	0	.	.	0.706	-1.41	0.08473	-1.345000	0.02744	0.000000	0.13247	-1.834000	0.00587	0.000000	0.06391	0.003000	0.18671	0.006000	0.07323	0.2873:0.4226:0.2901:0.0	2.842	0.05193	604	0.67577	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1	47.21	190	chr3	195788183	.	G	C	47.21	.	AC=2;AF=0.1;AN=20;BaseQRankSum=3.37;DP=3174;ExcessHet=0.2348;FS=68.239;InbreedingCoeff=-0.0844;MLEAC=1;MLEAF=0.05;MQ=56.46;MQRankSum=-6.831;QD=0.13;ReadPosRankSum=-1.724;SOR=6.445	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:176,14:190:58:0|1:195788077_G_A:58,0,7292:195788077	8	0	2	0
chr3	196507926	196507926	C	G	exonic	SMCO1	.	nonsynonymous SNV	SMCO1:NM_001077657:exon3:c.G606C:p.K202N,SMCO1:NM_001320473:exon3:c.G582C:p.K194N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.023	0.00877418908573	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.017	0.51248	D	0.015	0.61642	D	0.013	0.16609	B	0.022	0.19653	B	.	.	.	.	1	0.08975	N	2.08	0.57402	M	1.24	0.36691	T	-1.12	0.28906	N	0.079	0.05414	-1.0108	0.26666	T	0.058	0.24242	T	9	0.047096103	0.03983	T	0.008774	0.23147	T	0.023	0.04649	0.164	0.06842	0.0138822411134	0.00435	0.20728923989480802	0.20644	0.528087257865	0.50404	.	.	.	0.003477	0.02879	T	-0.314814	0.07331	T	-0.689985	0.06390	T	0.0872446450534691	0.10887	T	0.533547	0.17787	T	0.08555294	0.19849	0.052744295	0.08750	0.08555294	0.19849	0.052744295	0.08749	-4.211	0.26910	T	.	.	0.155	0.34250	B	.	.	1.550431	0.19873	14.48	0.96806374476206325	0.31169	0.16733	0.19524	N	AEFBI	0.089788	0.18199	N	-1.01349725025131	0.08324	0.3898524	-1.02558647015077	0.09224	0.4577065	0.999678348721456	0.41644	0.554377	0.28877	0	0.588066	0.40923	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.39	1.55	0.22356	0.124000	0.15557	-0.101000	0.11941	0.594000	0.32500	0.000000	0.06391	0.000000	0.08366	0.200000	0.21896	0.2795:0.4827:0.0:0.2378	3.955	0.08880	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	.	.	.	.	.	.	.	.	0.05	1613.43	142	chr3	196507926	.	C	G	1613.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.239;DP=460;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.36;ReadPosRankSum=-0.329;SOR=0.726	GT:AD:DP:GQ:PL	0/1:79,63:142:99:1625,0,2122	9	0	1	0
chr4	1744729	1744729	C	A	exonic	TACC3	.	nonsynonymous SNV	TACC3:NM_006342:exon15:c.C2348A:p.A783D	.	418	1095	9	0	0	9	0.00409277	.	.	.	734520	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.259	.	0.0002	0.000998403	0.0022	0.0002	0.0008	0	0	0.0008	0.0024	0.0115	0.0017464	270	154602	rs144776052	0.0011	0.0011	0.0008	0.0014	0.0104	0.0011	0.0011	0.0098	0.0096	0	0.0006	0.0049	2.519e-05	3.848e-05	0.0038	0.0004	0.0015	0.0104	0.0006	0.0006	0.0005	0.0007	0.0066	0.0005	0.0005	0.0048	0.0042	4.81e-05	0	0.0008	0.0058	0	0	0	0.0004	0.0009	0.0066	0.002	0.72154	D	0.002	0.79402	D	0.999	0.77913	D	0.974	0.73157	D	0.001878	0.37789	N	0.112328	0.999982	0.54805	D	2.735	0.79925	M	0.86	0.46777	T	-5.36	0.84811	D	0.666	0.67477	-0.5229	0.67807	T	0.273	0.64422	T	10	0.01585102	0.00333	T	.	.	.	0.259	0.57090	.	.	0.741605723735	0.73928	0.5972649816667596	0.59657	0.432787875245	0.43447	0.388658106327	0.23480	T	0.392123	0.75187	T	-0.358582	0.04211	T	-0.278459	0.46962	T	0.0750818037569585	0.09347	T	0.972403	0.89999	D	0.89337164	0.90798	0.83867383	0.90751	0.89337164	0.90799	0.83867383	0.90751	-13.411	0.90985	D	.	.	0.630	0.70130	P	.	.	4.028937	0.59562	24.1	0.99730559226398685	0.82761	0.86252	0.45497	D	AEFDBCI	0.349640	0.44336	N	0.464143856387653	0.65011	4.768953	0.36180559971387	0.59221	4.09826	0.999999984640629	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.697927	0.64325	0	0.711	0.71501	0	.	.	5.21	4.35	0.51454	3.741000	0.54810	3.140000	0.36479	-0.190000	0.09434	0.547000	0.27322	0.073000	0.22253	0.096000	0.18090	0.0:0.9246:0.0:0.0754	14.032	0.64144	804	0.43891	Transforming acidic coiled-coil-containing protein, C-terminal	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.003535	0.010101	0.001359	0.005848	0.000000	0.000000	0.003086	0.003817	0.05	1071.43	78	chr4	1744729	.	C	A	1071.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.013;DP=437;ExcessHet=0;FS=0.857;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.74;ReadPosRankSum=-1.415;SOR=0.707	GT:AD:DP:GQ:PL	0/1:38,40:78:99:1083,0,1104	9	0	1	0
chr4	2829538	2829538	C	T	exonic	SH3BP2	.	nonsynonymous SNV	SH3BP2:NM_001122681:exon8:c.C632T:p.T211M,SH3BP2:NM_001145855:exon8:c.C716T:p.T239M,SH3BP2:NM_001145856:exon8:c.C803T:p.T268M,SH3BP2:NM_003023:exon8:c.C632T:p.T211M	Cherubism, Autosomal dominant	1	1519	2	0	0	2	0.000657895	.	.	.	829066	Fibrous_dysplasia_of_jaw	MONDO:MONDO:0007315,MedGen:C0008029,OMIM:118400,Orphanet:184	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.232	0.597705338775	7.7e-05	.	8.316e-06	0	0	0	0	1.52e-05	0	0	6.5e-06	1	154602	rs375942374	3.148e-05	3.147e-05	3.54e-05	2.751e-05	3.867e-05	2.413e-05	2.158e-05	2.913e-05	2.589e-05	2.987e-05	2.236e-05	0	2.519e-05	0	0	3.867e-05	0	0	1.973e-05	1.97e-05	2.571e-05	1.346e-05	2.941e-05	5.24e-06	2.46e-06	4.88e-06	1.83e-06	2.416e-05	0	0	0	0	0	0	2.941e-05	0	0	0.138	0.25873	T	0.138	0.36365	T	0.011	0.15914	B	0.003	0.08700	B	0.101797	0.02554	N	1.695980	1	0.08975	N	0.395	0.12235	N	-3.74	0.95493	D	-1.04	0.35399	N	0.137	0.13484	-0.0270	0.81694	T	0.648	0.87738	D	10	0.19069451	0.34724	T	0.597705	0.96447	D	0.232	0.53354	.	.	0.855039209147	0.85363	.	.	0.196705550605	0.22038	0.389755964279	0.23636	T	0.220777	0.58415	T	-0.0896587	0.38132	T	-0.258908	0.48934	T	0.0162490852857869	0.00398	T	0.539146	0.18203	T	0.01354537	0.00062	0.025402175	0.00583	0.01354537	0.00062	0.025402175	0.00583	-4.188	0.26577	T	0.11435648641167205	0.10111	0.070	0.03372	B	.;.;.;.;.;.	.;.;.;.;.;.	0.767914	0.11380	7.992	0.9354226123371524	0.23369	0.00903	0.03537	N	AEFBI	0.043962	0.07015	N	-1.14818289818741	0.05809	0.265819	-1.21098131106544	0.05732	0.2739818	0.997424063203947	0.35604	0.706548	0.73137	0	0.702456	0.74545	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	5.33	-3.76	0.04074	-0.263000	0.08695	-4.124000	0.02329	-0.169000	0.11342	0.000000	0.06391	0.000000	0.08366	0.448000	0.27851	0.1892:0.2979:0.0:0.513	5.798	0.17659	735	0.53711	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	663.43	52	chr4	2829538	.	C	T	663.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.52;DP=348;ExcessHet=0;FS=2.356;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.76;ReadPosRankSum=1.41;SOR=0.412	GT:AD:DP:GQ:PL	0/1:24,28:52:99:675,0,585	9	0	1	0
chr4	2932649	2932649	G	A	exonic	MFSD10	.	nonsynonymous SNV	MFSD10:NM_001120:exon4:c.C482T:p.T161M,MFSD10:NM_001146069:exon5:c.C482T:p.T161M,MFSD10:NM_001363679:exon5:c.C482T:p.T161M	.	.	.	.	.	.	.	.	.	.	.	2306832	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.201	0.0382226595883	7.7e-05	0.000199681	3.36e-05	9.696e-05	0	0.0002	0	1.518e-05	0	0	4.53e-05	7	154602	rs370161671	9.792e-05	9.782e-05	9.946e-05	9.635e-05	0.0029	8.452e-05	7.929e-05	0.0024	0.0023	2.988e-05	0	0	0.0029	0	0	2.249e-05	4.972e-05	0	4.596e-05	4.593e-05	6.423e-05	2.685e-05	0.0008	2.108e-05	1.526e-05	0.0003	0.0002	0	0	0	0	0.0008	0	0	4.41e-05	0	0	0.488	0.10838	T	0.563	0.23845	T	0.903	0.49795	P	0.602	0.52168	P	0.000002	0.62929	D	0.100011	1	0.81001	D	1.68	0.43186	L	0.39	0.57419	T	-2.0	0.46146	N	0.693	0.79792	-0.8686	0.50635	T	0.199	0.55527	T	10	0.4220938	0.56932	T	0.038223	0.58095	D	0.201	0.48592	.	.	0.60849730516	0.60535	0.7531804410658527	0.75265	0.151937623519	0.17149	0.502796888351	0.39217	T	0.200322	0.60173	T	-0.054934	0.43694	T	-0.0163614	0.69268	D	0.256841645237325	0.23176	T	0.973953	0.90669	D	0.20605646	0.42768	0.086336754	0.19995	0.20605646	0.42768	0.086336754	0.19994	-5.379	0.40717	T	.	.	0.104	0.23918	B	.;.;.;.;.	.;.;.;.;.	4.240284	0.64281	24.7	0.99579477904725144	0.72921	0.94318	0.60784	D	AEFDGBCI	0.951007	0.96516	D	0.420623265662644	0.62557	4.47355	0.432818343169227	0.63623	4.599576	0.999999999998014	0.74766	0.741868	0.97996	0	0.672317	0.65289	0	0.774882	0.98623	0	0.735409	0.98432	0	.	.	4.86	4.86	0.62624	9.841000	0.98349	11.543000	0.93142	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.394000	0.26647	0.0:0.0:1.0:0.0	16.744	0.85328	614	0.66605	Major facilitator superfamily domain|Major facilitator superfamily domain;Major facilitator superfamily domain|Major facilitator superfamily domain;Major facilitator superfamily domain|Major facilitator superfamily domain;Major facilitator superfamily domain|Major facilitator superfamily domain;Major facilitator superfamily domain|Major facilitator superfamily domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	2207.43	139	chr4	2932649	.	G	A	2207.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.02;DP=503;ExcessHet=0;FS=1.434;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=15.88;ReadPosRankSum=0.501;SOR=0.539	GT:AD:DP:GQ:PL	0/1:59,80:139:99:2219,0,1521	9	0	1	0
chr4	6716397	6716397	G	A	exonic	BLOC1S4	.	nonsynonymous SNV	BLOC1S4:NM_018366:exon1:c.G188A:p.R63H	.	404	1098	19	1	0	21	0.00947226	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.104	.	.	0.00219649	0.0335	0	0	0	.	0.0263	0	0.0355	0.0004722	73	154602	rs530613836	0.0014	0.0014	0.0013	0.0015	0.0084	0.0013	0.0013	0.0075	0.0072	0.0001	0.0009	0.0005	7.484e-05	4.437e-05	0.0083	0.0012	0.0023	0.0084	0.0013	0.0013	0.0012	0.0013	0.0066	0.0011	0.0011	0.0048	0.0042	0.0004	0	0.0015	0.0003	0	0	0.0103	0.0017	0.0014	0.0066	0.325	0.13349	T	0.276	0.21947	T	0.093	0.25333	B	0.025	0.20508	B	0.230170	0.15938	U	0.629955	0.921875	0.36702	D	1.825	0.47900	L	0.9	0.45248	T	-0.21	0.10308	N	0.207	0.22998	-1.0106	0.26729	T	0.097	0.36289	T	10	0.005990088	0.00134	T	.	.	.	0.104	0.29647	.	.	0.580444438771	0.57715	0.13256733147620836	0.13180	1.94329033051	0.93261	0.928962111473	0.98928	D	0.072116	0.34374	T	-0.447204	0.01173	T	-0.408473	0.32402	T	0.0791250979842311	0.09874	T	0.635836	0.24975	T	0.10409883	0.24608	0.12060491	0.29105	0.10409883	0.24608	0.12060491	0.29104	-5.366	0.40591	T	.	.	0.222	0.45347	B	.	.	3.029452	0.40572	21.2	0.99658203332568307	0.77757	0.76243	0.37378	D	ALL	0.229917	0.35337	N	-0.146032904538573	0.35404	2.033092	-0.018294117063793	0.38890	2.297716	1.0	0.98316	0.441713	0.08003	0	0.484254	0.07192	0	0.52208	0.10781	0	0.249971	0.05119	0	.	.	4.3	4.3	0.50540	1.467000	0.34930	6.634000	0.56161	0.486000	0.22242	0.960000	0.33603	1.000000	0.68203	0.299000	0.24476	0.0:0.0:1.0:0.0	12.636	0.56043	976	0.04745	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003769	0.000000	0.000000	0.000000	0.000000	0.038462	0.000000	0.025641	0.05	717.43	39	chr4	6716397	.	G	A	717.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.286;DP=343;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=18.4;ReadPosRankSum=0.137;SOR=0.616	GT:AD:DP:GQ:PL	0/1:12,27:39:99:729,0,244	9	0	1	0
chr4	6862306	6862306	T	C	exonic	KIAA0232	.	nonsynonymous SNV	KIAA0232:NM_001100590:exon6:c.T1924C:p.S642P,KIAA0232:NM_014743:exon7:c.T1924C:p.S642P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.057	0.00517274981781	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1049661710	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.571e-06	6.567e-06	0	1.345e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.005	0.63226	D	0.024	0.56640	D	0.01	0.15535	B	0.01	0.14941	B	0.002610	0.36243	N	0.335799	0.997385	0.43845	D	1.845	0.48678	L	.	.	.	-1.21	0.30762	N	0.255	0.28849	-0.8699	0.50537	T	0.178	0.52350	T	9	0.10915744	0.20352	T	0.005173	0.13156	T	0.057	0.16321	0.471	0.54537	0.0675242888579	0.06100	0.46100661359438516	0.46018	0.236252140533	0.26164	0.507156848907	0.39825	T	0.032907	0.22691	T	-0.0647136	0.42169	T	-0.330733	0.41388	T	0.740678250789642	0.42773	D	0.785921	0.42389	T	0.33447877	0.55835	0.22762217	0.47778	0.33447877	0.55835	0.22762217	0.47777	-4.395	0.29489	T	.	.	0.096	0.18950	B	.;.	.;.	2.849310	0.37614	20.5	0.99790826753695638	0.87661	0.97746	0.76833	D	AEFBI	0.619401	0.60485	D	-0.157216252661344	0.34928	1.999906	-0.0453646344165534	0.37692	2.210343	0.99990703318278	0.45458	0.651	0.46895	0	0.653731	0.59785	0	0.65145	0.50148	0	0.635551	0.53088	0	.	.	5.73	1.7	0.23359	2.683000	0.46609	0.685000	0.20714	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0737:0.2877:0.6386	6.857	0.23230	682	0.59757	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.45	2133.02	152	chr4	6862306	.	T	C	2133.02	.	AC=9;AF=0.45;AN=20;BaseQRankSum=-3.47;DP=1244;ExcessHet=15.1594;FS=225.654;InbreedingCoeff=-0.8182;MLEAC=9;MLEAF=0.45;MQ=60;MQRankSum=0;QD=1.81;ReadPosRankSum=1.2;SOR=11.543	GT:AD:DP:GQ:PL	0/1:102,50:152:99:513,0,2450	1	0	9	0
chr4	8581311	8581311	T	C	exonic	GPR78	.	nonsynonymous SNV	GPR78:NM_080819:exon1:c.T329C:p.F110S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.286	0.00944174919223	.	.	1.538e-05	0	0	0	0	2.811e-05	0	0	6.5e-06	1	154602	rs773750185	1.397e-06	4.104e-06	1.387e-06	1.406e-06	1.812e-06	2.3e-07	9e-08	3e-07	1.1e-07	0	0	0	0	0	0	1.812e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.127	0.27080	T	0.0	0.92824	D	0.996	0.68779	D	0.97	0.72226	D	0.000000	0.84330	U	0.000000	0.99967	0.48205	D	1.89	0.50145	L	1.18	0.37746	T	-3.56	0.68880	D	0.669	0.67736	-0.9754	0.36037	T	0.149	0.47593	T	10	0.90260184	0.89623	D	0.009442	0.24739	T	0.286	0.60456	0.792	0.91365	0.702741401759	0.70016	0.5576548319406365	0.55692	0.368310320009	0.38387	0.71000701189	0.68595	T	0.122969	0.44700	T	0.056395	0.59159	T	-0.156769	0.58642	T	0.963042557239532	0.66543	D	0.872513	0.57956	D	0.49693742	0.66914	0.556324	0.74337	0.49693742	0.66915	0.556324	0.74338	-4.587	0.32008	T	.	.	0.577	0.67923	P	.	.	2.613424	0.33945	19.49	0.99587140328460921	0.73395	0.03917	0.09303	N	AEFDBCI	0.510961	0.53979	D	-0.0734106833104985	0.38563	2.260405	-0.270627158422275	0.29070	1.625823	0.999999271228531	0.74766	0.437478	0.07067	0	0.547309	0.14657	0	0.606814	0.37721	0	0.562822	0.20929	0	.	.	2.5	2.5	0.29355	3.905000	0.56046	0.168000	0.15485	0.502000	0.22824	1.000000	0.71638	0.000000	0.08366	0.015000	0.10482	0.0:0.0:0.0:1.0	9.424	0.37733	988	0.01987	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	542.43	34	chr4	8581311	.	T	C	542.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.178;DP=400;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=15.95;ReadPosRankSum=-1.545;SOR=0.671	GT:AD:DP:GQ:PL	0/1:15,19:34:99:554,0,384	9	0	1	0
chr4	10507985	10507985	C	A	exonic	CLNK	.	stopgain	CLNK:NM_052964:exon17:c.G958T:p.E320X	.	421	1100	1	0	0	1	0.000454339	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.99e-05	0	0	0	0	6.859e-05	0.0015	0	3.88e-05	6	154602	rs781050849	2.058e-05	2.189e-05	1.909e-05	2.208e-05	0.0003	1.46e-05	1.267e-05	6.101e-05	2.525e-05	0	4.516e-05	0	0	0	0.0003	1.621e-05	4.974e-05	5.887e-05	1.313e-05	1.312e-05	1.285e-05	1.342e-05	1.47e-05	2.18e-06	8.2e-07	.	.	0	0	0	0	0	0	0	1.47e-05	0.0005	0	.	.	.	.	.	.	.	.	.	.	.	.	0.002423	0.36574	N	0.186264	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.36	0.42443	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.467405	0.93233	D	0.61701	0.97470	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive;.;.	High;.;.	8.510294	0.97656	37	0.99718960150889779	0.81914	0.89344	0.49752	D	AEFBI	0.119713	0.23352	N	0.908259541142344	0.92159	11.26544	0.704380135738931	0.82711	7.835269	0.98467495234756	0.30756	0.553676	0.25195	0	0.588015	0.36545	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.33	5.33	0.75683	4.379000	0.59342	5.927000	0.51257	0.599000	0.40250	0.996000	0.39380	1.000000	0.68203	0.063000	0.16184	0.0:1.0:0.0:0.0	14.906	0.70358	773	0.48803	SH2 domain|SH2 domain|SH2 domain|SH2 domain;SH2 domain|SH2 domain|SH2 domain|SH2 domain;SH2 domain|SH2 domain|SH2 domain|SH2 domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001511	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.003788	0.05	1542.43	106	chr4	10507985	.	C	A	1542.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.869;DP=438;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.55;ReadPosRankSum=-0.129;SOR=0.714	GT:AD:DP:GQ:PL	0/1:43,63:106:99:1554,0,1006	9	0	1	0
chr4	15824960	15824960	C	T	exonic	CD38	.	nonsynonymous SNV	CD38:NM_001775:exon3:c.C443T:p.T148M	.	426	1086	10	0	0	10	0.00458295	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.308	0.0785249681242	0.0005	0.000998403	0.0005	9.741e-05	0	0.0002	0	0.0005	0.0011	0.0010	0.0004528	70	154602	rs138866692	0.0004	0.0004	0.0003	0.0004	0.0023	0.0003	0.0003	0.0013	0.0011	8.964e-05	6.717e-05	0.0052	0.0001	0	0.0023	0.0002	0.0009	0.0013	0.0003	0.0003	0.0004	0.0002	0.0010	0.0002	0.0002	0.0004	0.0003	9.634e-05	0	6.538e-05	0.0043	0.0004	0	0.0068	0.0003	0	0.0010	0.052	0.39097	T	0.006	0.72224	D	1.0	0.90584	D	0.998	0.88582	D	0.000032	0.55875	N	0.157752	0.991058	0.41297	D	2.545	0.74286	M	0.44	0.56609	T	-3.87	0.76015	D	0.382	0.42345	-0.5307	0.67515	T	0.307	0.67777	T	10	0.024703503	0.00689	T	0.078525	0.73024	D	0.308	0.62947	.	.	0.75392961054	0.75170	0.8964560050014194	0.89616	0.833824280555	0.67736	0.339563012123	0.16372	T	0.383506	0.74534	T	-0.32325	0.06635	T	-0.26173	0.48651	T	0.0903151085756348	0.11255	T	0.726827	0.37284	T	0.2631608	0.49380	0.33942622	0.59708	0.2631608	0.49380	0.33942622	0.59707	-4.271	0.27768	T	.	.	0.174	0.45569	B	.;.	.;.	3.276894	0.44877	22.0	0.99651921114788899	0.77380	0.43965	0.27214	N	AEFI	0.093587	0.18934	N	0.0342821537521535	0.43421	2.635314	-0.0474717785330979	0.37599	2.203709	0.506066862893366	0.20982	0.706298	0.61202	0	0.709663	0.81188	0	0.602189	0.34648	0	0.542086	0.14980	0	.	.	5.35	3.62	0.40616	1.538000	0.35700	1.601000	0.27583	-0.174000	0.10959	0.882000	0.31029	0.880000	0.27694	0.434000	0.27538	0.0:0.8238:0.0:0.1762	8.793	0.34025	839	0.37672	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.002717	0.000000	0.000000	0.000000	0.000000	0.000000	0.05	852.43	89	chr4	15824960	.	C	T	852.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.45;DP=416;ExcessHet=0;FS=1.723;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.58;ReadPosRankSum=-1.836;SOR=0.894	GT:AD:DP:GQ:PL	0/1:52,37:89:99:864,0,1156	9	0	1	0
chr4	31142672	31142672	G	C	exonic	PCDH7	.	nonsynonymous SNV	PCDH7:NM_001173523:exon3:c.G3591C:p.M1197I,PCDH7:NM_032457:exon3:c.G3567C:p.M1189I	.	425	1089	8	0	0	8	0.00365965	.	.	.	2236332	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.141	0.00279375868868	0.0002	0.000199681	0.0004	0.0002	0.0008	0	0	0.0006	0	6.071e-05	0.0003622	56	154602	rs201367943	0.0003	0.0003	0.0003	0.0003	0.0139	0.0003	0.0003	0.0111	0.0101	0.0003	0.0009	0.0040	0	0	0.0139	0.0002	0.0007	9.612e-05	0.0004	0.0004	0.0004	0.0004	0.0013	0.0003	0.0003	0.0009	0.0007	7.226e-05	0	0.0013	0.0060	0	0	0	0.0002	0.0019	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.005035	0.000000	0.006793	0.008772	0.000000	0.008621	0.003049	0.000000	0.05	1679.43	149	chr4	31142672	.	G	C	1679.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.285;DP=462;ExcessHet=0;FS=0.604;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.27;ReadPosRankSum=0.234;SOR=0.619	GT:AD:DP:GQ:PL	0/1:75,74:149:99:1691,0,1996	9	0	1	0
chr4	37443522	37443522	A	G	exonic	NWD2	.	nonsynonymous SNV	NWD2:NM_001144990:exon7:c.A1534G:p.I512V	.	425	1079	16	2	0	20	0.00918274	.	.	.	709342	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.184	.	0.0031	0.00479233	0.0082	0.0018	0.0048	0	0.0037	0.0046	0.0164	0.0158	0.0020375	315	154602	rs142523381	0.0052	0.0050	0.0048	0.0056	0.0176	0.0051	0.0051	0.0169	0.0166	0.0004	0.0040	0.0021	0	0.0027	0.0063	0.0048	0.0054	0.0176	0.0031	0.0031	0.0031	0.0032	0.0156	0.0029	0.0028	0.0127	0.0117	0.0009	0	0.0020	0.0014	0.0002	0.0021	0	0.0044	0.0043	0.0156	0.223	0.18757	T	0.388	0.15602	T	0.004	0.12183	B	0.007	0.12992	B	.	.	.	.	0.999858	0.49910	D	1.24	0.30952	L	-1.09	0.77206	T	-0.67	0.19297	N	0.282	0.31925	-0.8602	0.51249	T	0.184	0.53300	T	9	0.005728036	0.00128	T	.	.	.	0.184	0.45763	.	.	0.148003135375	0.14442	0.3334378922076684	0.33256	.	.	0.442216396332	0.30881	T	0.03827	0.24778	T	-0.414398	0.01859	T	-0.355057	0.38625	T	0.0159306943670325	0.00377	T	0.792821	0.43457	T	0.07329088	0.16366	0.08466118	0.19493	0.07329088	0.16365	0.08466118	0.19492	-4.192	0.26635	T	.	.	0.092	0.13690	B	.	.	2.201175	0.28072	17.68	0.98659946700863277	0.44317	0.85918	0.45108	D	AEBI	0.191013	0.31823	N	-0.35675028507783	0.27025	1.479511	-0.0900062375073974	0.35801	2.075695	0.900204061452854	0.26070	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	6.06	4.9	0.63643	3.391000	0.52271	7.110000	0.57563	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.959000	0.51448	0.9316:0.0:0.0684:0.0	11.671	0.50665	934	0.15400	NACHT nucleoside triphosphatase	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.003614	0.000000	0.000000	0.004386	0.000000	0.000000	0.005882	0.025641	0.05	2283.43	159	chr4	37443522	.	A	G	2283.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.679;DP=478;ExcessHet=0;FS=0.581;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.36;ReadPosRankSum=0.591;SOR=0.644	GT:AD:DP:GQ:PL	0/1:73,86:159:99:2295,0,2036	9	0	1	0
chr4	39082083	39082083	A	G	exonic	KLHL5	.	nonsynonymous SNV	KLHL5:NM_199039:exon3:c.A641G:p.N214S,KLHL5:NM_001171654:exon4:c.A401G:p.N134S,KLHL5:NM_015990:exon4:c.A824G:p.N275S,KLHL5:NM_001007075:exon5:c.A824G:p.N275S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.842	0.213871151739	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.841e-07	6.84e-07	1.361e-06	0	0.0002	0	0	.	.	0	0	0	0	0	0.0002	0	0	0	6.567e-06	6.562e-06	1.285e-05	0	0.0002	0	0	.	.	0	0	0	0	0.0002	0	0	0	0	0	0.001	0.78490	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.375	0.91388	M	-1.2	0.79072	T	-4.52	0.79060	D	0.829	0.87373	0.637	0.92378	D	0.708	0.89973	D	10	0.9264952	0.91997	D	0.213871	0.87428	D	0.842	0.95063	.	.	0.946632873053	0.94607	0.7749814896640261	0.77448	0.974042105135	0.73489	0.792461276054	0.80816	T	0.298233	0.67080	T	0.146451	0.68935	D	-0.02741	0.68540	D	0.9960744861148	0.88617	D	0.999383	0.99784	D	0.5905283	0.72179	0.63602483	0.78750	0.5905283	0.72181	0.63602483	0.78750	-10.707	0.78555	D	.	.	0.96	0.90154	P	.;.;.;.;.	.;.;.;.;.	4.645778	0.74011	26.1	0.99892673576984214	0.96666	0.98828	0.87388	D	AEFBI	0.922476	0.89752	D	0.942024856736452	0.93660	12.18952	0.877187969780673	0.94501	12.80957	0.999999797831447	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.45	5.45	0.79688	9.325000	0.96006	11.209000	0.89330	0.691000	0.84096	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	1.0:0.0:0.0:0.0	15.820	0.78406	504	0.75712	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1091.43	114	chr4	39082083	.	A	G	1091.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.139;DP=417;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.57;ReadPosRankSum=0.569;SOR=0.688	GT:AD:DP:GQ:PL	0/1:68,46:114:99:1103,0,1765	9	0	1	0
chr4	52744235	52744235	G	A	exonic	ERVMER34-1	.	nonsynonymous SNV	ERVMER34-1:NM_001242690:exon3:c.C1286T:p.P429L,ERVMER34-1:NM_024534:exon4:c.C1286T:p.P429L	.	431	1081	10	0	0	10	0.00460405	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0015	0.00139776	0.0019	0.0008	0.0065	0	0.1667	0.0023	0.0057	0.0017	0.0006533	101	154602	rs141114710	0.0047	0.0042	0.0050	0.0045	0.0172	0.0046	0.0045	0.0139	0.0128	0.0009	0.0022	0.0006	6.23e-05	0.0292	0.0172	0.0036	0.0051	0.0021	0.0049	0.0049	0.0038	0.0060	0.0033	0.0046	0.0045	0.0029	0.0028	0.0007	0.1286	0.0022	0.0012	0.0006	0.0296	0.0170	0.0033	0.0047	0.0015	.	.	.	0.0	0.92824	D	0.016	0.17332	B	0.005	0.11217	B	.	.	.	.	1	0.08975	N	0	0.06538	N	3.03	0.08898	T	.	.	.	0.341	0.38232	.	.	.	.	.	.	.	0.0032551587	0.00056	T	.	.	.	.	.	.	.	0.227934060464	0.22382	0.671597211123151	0.67097	.	.	0.207218885422	0.00699	T	4.57E-4	0.00158	T	-0.595423	0.00155	T	-0.624335	0.10848	T	.	.	.	0.533547	0.17787	T	0.018549057	0.00377	0.049285304	0.07500	0.018549057	0.00376	0.049285304	0.07500	-0.845	0.00843	T	.	.	0.136	0.32202	B	.;.	.;.	-0.934741	0.00869	0.031	0.65350738182465162	0.07748	0.00688	0.02942	N	AEFBCI	0.039389	0.05713	N	.	.	.	.	.	.	0.0022410180715896	0.09253	0.732398	0.92422	0	0.547309	0.14657	0	0.743671	0.96076	0	0.530356	0.10902	0	.	.	2.06	-4.06	0.03718	-1.959000	0.01609	-3.025000	0.03129	-0.377000	0.05411	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.2758:0.34:0.2134:0.1708	0.807	0.01016	333	0.86326	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.019231	0.019231	0.000000	0.024691	0.000000	0.000000	0.013699	0.015625	0.1	5924.12	177	chr4	52744235	.	G	A	5924.12	.	AC=2;AF=0.1;AN=20;DP=561;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.1;MQ=60;QD=33.47;SOR=0.875	GT:AD:DP:GQ:PL	1/1:0,177:177:99:5947,531,0	9	1	0	0
chr4	56347711	56347711	G	A	exonic	AASDH	.	stopgain	AASDH:NM_001323890:exon12:c.C2512T:p.Q838X	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	694.43	50	chr4	56347711	.	G	A	694.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.795;DP=381;ExcessHet=0;FS=2.386;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=59.8;MQRankSum=-0.883;QD=13.89;ReadPosRankSum=1.93;SOR=0.412	GT:AD:DP:GQ:PL	0/1:23,27:50:99:706,0,537	9	0	1	0
chr4	56483185	56483185	C	T	exonic	SRP72	.	nonsynonymous SNV	SRP72:NM_001267722:exon7:c.C689T:p.A230V,SRP72:NM_006947:exon9:c.C872T:p.A291V	Bone marrow failure syndrome 1, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	428310	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.340	0.0379004179736	.	.	3.307e-05	9.756e-05	0	0	0	3.007e-05	0.0011	0	2.59e-05	4	154602	rs758054768	3.358e-05	3.352e-05	3.546e-05	3.168e-05	0.0002	2.57e-05	2.316e-05	4.369e-05	2.774e-05	5.99e-05	0.0001	0	0	0	0.0002	2.789e-05	0.0001	1.161e-05	2.63e-05	2.627e-05	1.285e-05	4.039e-05	0.0002	8.15e-06	5.14e-06	5.29e-05	2.836e-05	0	0	0.0002	0	0	0	0	1.47e-05	0	0	0.098	0.47745	T	0.133	0.40586	T	0.868	0.47740	P	0.254	0.39164	B	0.000000	0.84330	D	0.048429	1	0.81001	D	1.73	0.44655	L	-1.03	0.76430	T	-2.03	0.47008	N	0.62	0.63883	-0.3009	0.74960	T	0.388	0.74290	T	10	0.36367595	0.52932	T	0.038	0.57897	D	0.340	0.66202	.	.	0.854233808864	0.85283	0.3762421920644524	0.37538	0.274470700869	0.29939	0.823335528374	0.85539	D	0.061696	0.31723	T	0.00515683	0.52363	T	-0.122712	0.61579	T	0.153386041522026	0.17370	T	0.849515	0.53247	T	0.21706635	0.44180	0.1931633	0.42870	0.21706635	0.44180	0.1931633	0.42869	-6.694	0.51765	T	0.2494703075829077	0.33773	0.374	0.58084	A	.;.;.	.;.;.	4.120087	0.61574	24.4	0.9989102833043455	0.96513	0.98088	0.79496	D	AEFBI	0.907947	0.86263	D	0.55812180597337	0.70579	5.522128	0.631824345049888	0.77261	6.64583	0.999999999924978	0.74766	0.732398	0.92422	0	0.724815	0.89359	0	0.724815	0.87919	0	0.727631	0.95156	0	.	.	5.72	5.72	0.89380	7.816000	0.84708	6.015000	0.52706	0.581000	0.30040	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:1.0:0.0:0.0	17.357	0.87229	559	0.71409	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1728.43	131	chr4	56483185	.	C	T	1728.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.871;DP=454;ExcessHet=0;FS=7.866;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.19;ReadPosRankSum=-1.126;SOR=0.903	GT:AD:DP:GQ:PL	0/1:65,66:131:99:1740,0,1533	9	0	1	0
chr4	67514184	67514184	T	C	exonic	CENPC	.	nonsynonymous SNV	CENPC:NM_001362481:exon8:c.A1334G:p.H445R,CENPC:NM_001812:exon8:c.A1334G:p.H445R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.051	0.00111881680744	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1271363575	1.369e-06	1.368e-06	1.362e-06	1.376e-06	1.799e-06	2.3e-07	9e-08	3e-07	1.1e-07	0	0	0	0	0	0	1.799e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.192	0.20988	T	0.589	0.08245	T	0.0	0.02946	B	0.0	0.01387	B	0.378869	0.13418	N	0.679610	1	0.08975	N	-0.69	0.01958	N	.	.	.	-0.89	0.24026	N	0.036	0.01068	-1.0159	0.25045	T	0.039	0.16634	T	9	0.06154248	0.07733	T	0.001119	0.01360	T	0.051	0.14325	0.17	0.07536	0.284150004643	0.28039	0.029363949244043196	0.02885	0.0477508610535	0.05213	0.317699193954	0.13072	T	0.048582	0.28058	T	-0.33766	0.05552	T	-0.722802	0.04662	T	0.0252280141253597	0.01303	T	0.428457	0.11587	T	0.023274692	0.01054	0.035247035	0.02741	0.023274692	0.01053	0.035247035	0.02740	-3.49	0.16292	T	.	.	0.066	0.02257	B	.	.	1.027538	0.14072	10.64	0.18757857877686127	0.00604	0.15770	0.19073	N	AEFGBI	0.035247	0.04504	N	-1.41295351287068	0.02524	0.111583	-1.36242498467496	0.03662	0.1712635	0.0155185246250417	0.12722	0.706548	0.73137	0	0.724815	0.89359	0	0.608884	0.39905	0	0.635551	0.53088	0	.	.	3.88	2.67	0.30756	1.861000	0.39078	-0.052000	0.12533	-0.122000	0.13826	0.097000	0.22731	0.401000	0.24711	0.001000	0.02609	0.0:0.1067:0.0:0.8933	8.345	0.31425	917	0.20147	CENP-C, middle DNMT3B-binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	633.43	65	chr4	67514184	.	T	C	633.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.671;DP=372;ExcessHet=0;FS=2.124;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.75;ReadPosRankSum=-1.554;SOR=0.988	GT:AD:DP:GQ:PL	0/1:39,26:65:99:645,0,1096	9	0	1	0
chr4	68476303	68476303	G	A	exonic	TMPRSS11E	.	nonsynonymous SNV	TMPRSS11E:NM_014058:exon7:c.G572A:p.R191K	.	432	1073	16	1	0	18	0.00831793	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.317	.	0.0015	0.0191693	0.0099	0.0034	0.0025	0.0350	0.0192	0.0022	0.0132	0.0332	0.0089326	1381	154602	rs138883861	0.0048	0.0048	0.0040	0.0056	0.0541	0.0047	0.0047	0.0522	0.0514	0.0027	0.0024	0.0001	0.0541	0.0187	0.0030	0.0004	0.0072	0.0318	0.0051	0.0051	0.0036	0.0067	0.0434	0.0048	0.0047	0.0388	0.0370	0.0030	0	0.0014	0	0.0434	0.0166	0	0.0008	0.0043	0.0362	0.214	0.19361	T	0.225	0.25514	T	0.856	0.47190	P	0.388	0.44086	B	0.000140	0.49741	D	0.000000	0.734502	0.29796	N	0	0.06538	N	-0.01	0.62762	T	-2.1	0.47852	N	0.801	0.79696	-0.9988	0.30255	T	0.026	0.11220	T	10	0.009520739	0.00215	T	.	.	.	0.317	0.63904	.	.	0.814305628724	0.81256	0.8757017065038365	0.87537	0.347502600648	0.36640	0.473449975252	0.35155	T	0.241795	0.61040	T	-0.367462	0.03724	T	-0.244723	0.50336	T	0.0446611687074535	0.04540	T	0.692831	0.30243	T	0.22197078	0.44786	0.2519904	0.50820	0.22197078	0.44786	0.2519904	0.50819	-5.974	0.46062	T	.	.	0.253	0.48746	B	.	.	2.265371	0.28947	17.96	0.9759299570249157	0.34803	0.93170	0.57508	D	AEFDIJ	0.687624	0.64890	D	-0.000828758884280856	0.41818	2.508163	0.0516300828608658	0.42151	2.544544	0.957410023018017	0.28302	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	5.56	4.71	0.59010	7.072000	0.76466	.	.	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.001000	0.02609	0.0:0.0:0.8432:0.1568	13.582	0.61376	759	0.50631	Serine proteases, trypsin 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	0.004697	0.000000	0.000000	0.003623	0.000000	0.000000	0.012195	0.019084	0.05	3570.43	188	chr4	68476303	.	G	A	3570.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=3.71;DP=517;ExcessHet=0;FS=8.633;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=18.99;ReadPosRankSum=-1.625;SOR=1.318	GT:AD:DP:GQ:PL	0/1:77,111:188:99:3582,0,2198	9	0	1	0
chr4	78540945	78540945	G	T	exonic	FRAS1	.	nonsynonymous SNV	FRAS1:NM_025074:exon74:c.G11860T:p.V3954L	Fraser syndrome, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.019	0.00231067217021	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.357	0.17115	T	.	.	.	.	.	.	0.032015	0.25089	N	0.386077	0.999837	0.20152	N	.	.	.	.	.	.	.	.	.	0.034	0.00942	-1.0475	0.15102	T	0.068	0.27777	T	10	0.05793938	0.06735	T	0.002311	0.04452	T	.	.	.	.	0.449187354989	0.44539	0.10054975897522352	0.09985	.	.	0.287178635597	0.08513	T	.	.	.	-0.12097	0.32965	T	-0.411542	0.32048	T	0.0630679974767446	0.07643	T	0.70513	0.31558	T	.	.	.	.	.	.	.	.	-3.023	0.10431	T	.	.	0.075	0.05711	B	.	.	0.121797	0.05193	1.705	0.87956485826681352	0.17608	0.81039	0.40529	D	AEFBI	0.256187	0.37517	N	-0.626705428475027	0.18145	0.9397049	-0.524398339435553	0.21492	1.162856	0.994976289754749	0.33890	0.706548	0.73137	0	0.59043	0.45803	0	0.724815	0.87919	0	0.613276	0.41899	0	.	.	6.08	2.0	0.25495	2.237000	0.42709	-0.462000	0.09033	0.618000	0.50648	0.994000	0.38300	0.000000	0.08366	0.022000	0.11911	0.2723:0.1115:0.6162:0.0	8.815	0.34148	864	0.32732	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	1437.43	92	chr4	78540945	.	G	T	1437.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.34;DP=497;ExcessHet=0;FS=5.286;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=15.62;ReadPosRankSum=0.712;SOR=0.866	GT:AD:DP:GQ:PL	0/1:43,49:92:99:1449,0,1234	9	0	1	0
chr4	83463512	83463512	C	T	exonic	ABRAXAS1	.	nonsynonymous SNV	ABRAXAS1:NM_001345962:exon7:c.G451A:p.A151T,ABRAXAS1:NM_139076:exon8:c.G778A:p.A260T	.	.	.	.	.	.	.	.	.	.	.	1857219	not_provided|not_specified	MedGen:C3661900|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.048	0.0212842845062	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs200727513	1.377e-06	3.421e-06	2.742e-06	0	1.806e-06	2.3e-07	9e-08	3e-07	1.1e-07	0	0	0	0	0	0	1.806e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.414	0.11514	T	0.505	0.13066	T	0.264	0.31602	B	0.09	0.29851	B	0.206193	0.16477	N	0.554792	1	0.08975	N	.	.	.	0.87	0.46412	T	-0.57	0.17210	N	0.162	0.17002	-1.0296	0.20583	T	0.091	0.34955	T	10	0.13651595	0.25974	T	0.021284	0.44035	T	0.048	0.13305	.	.	0.367992661779	0.36405	0.14821388443617792	0.14743	0.120333944722	0.13553	0.30477720499	0.11117	T	0.002012	0.01422	T	-0.323888	0.06584	T	-0.703019	0.05662	T	0.0693262762824745	0.08556	T	0.567243	0.20104	T	0.023787994	0.01150	0.042738777	0.05158	0.023787994	0.01150	0.042738777	0.05158	-4.604	0.32222	T	0.14203361391289301	0.16029	0.073	0.05231	B	.;.	.;.	1.403844	0.18184	13.59	0.86762360654592252	0.16756	0.69069	0.34043	D	AEFBI	0.099327	0.19996	N	-0.39787935461366	0.25544	1.38743	-0.340583840991836	0.26801	1.482808	0.0083281100655636	0.11654	0.706298	0.61202	0	0.694456	0.67091	0	0.709663	0.75317	0	0.711	0.71501	0	.	.	5.69	3.03	0.34070	0.410000	0.20819	2.618000	0.33617	-0.193000	0.09282	0.562000	0.27441	1.000000	0.68203	0.004000	0.06068	0.0:0.6335:0.1411:0.2253	6.646	0.22126	898	0.25240	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	36.75	82	chr4	83463512	.	C	T	36.75	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-3.292;DP=313;ExcessHet=0;FS=88.935;InbreedingCoeff=-0.072;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=0.45;ReadPosRankSum=1.51;SOR=6.438	GT:AD:DP:GQ:PL	0/1:58,24:82:48:48,0,1065	9	0	1	0
chr4	99318097	99318097	C	G	exonic	ADH1B	.	nonsynonymous SNV	ADH1B:NM_000668:exon3:c.G208C:p.A70P,ADH1B:NM_001286650:exon4:c.G88C:p.A30P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.203	0.00535122917252	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.002	0.83351	D	.	.	.	.	.	.	0.274284	0.15067	N	0.646799	0.986388	0.24621	N	.	.	.	3.67	0.04188	T	-2.9	0.60827	D	0.403	0.44379	-1.0901	0.05515	T	0.040	0.17404	T	10	0.78878886	0.78477	D	0.005351	0.13710	T	0.203	0.48915	0.793	0.91438	0.298403945805	0.29456	0.868512317625715	0.86816	0.674296566844	0.59635	0.391434371471	0.23871	T	0.010873	0.09774	T	-0.116403	0.33711	T	-0.404982	0.32804	T	0.962773263454437	0.66465	D	0.949205	0.80472	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.888	0.85099	P	.;.;.;.	.;.;.;.	3.508601	0.49119	22.7	0.99207734913482859	0.55472	0.90290	0.51349	D	AEFDGBI	0.896173	0.83696	D	-0.172128327332495	0.34298	1.956007	-0.333588702841019	0.27021	1.496536	0.828569575732975	0.24652	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	4.17	2.36	0.28258	3.367000	0.52075	3.858000	0.40123	-0.233000	0.07663	0.778000	0.29449	0.208000	0.23622	0.125000	0.19370	0.168:0.7474:0.0:0.0847	8.164	0.30373	624	0.65661	Alcohol dehydrogenase, N-terminal|Alcohol dehydrogenase, zinc-type, conserved site|Polyketide synthase, enoylreductase domain;Alcohol dehydrogenase, N-terminal|Alcohol dehydrogenase, zinc-type, conserved site;Alcohol dehydrogenase, N-terminal|Alcohol dehydrogenase, zinc-type, conserved site;Alcohol dehydrogenase, N-terminal|Alcohol dehydrogenase, zinc-type, conserved site|Polyketide synthase, enoylreductase domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4	1544.91	130	chr4	99318097	.	C	G	1544.91	.	AC=8;AF=0.4;AN=20;BaseQRankSum=-2.498;DP=1449;ExcessHet=10.3881;FS=281.803;InbreedingCoeff=-0.6704;MLEAC=7;MLEAF=0.35;MQ=59.99;MQRankSum=0;QD=1.5;ReadPosRankSum=-0.079;SOR=11.983	GT:AD:DP:GQ:PL	0/1:81,49:130:99:304,0,1272	2	0	8	0
chr4	99347057	99347057	C	G	exonic	ADH1C	.	nonsynonymous SNV	ADH1C:NM_000669:exon3:c.G208C:p.A70P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.79402	D	0.987	0.61912	D	0.964	0.71005	D	.	.	.	.	.	.	.	1.585	0.39878	L	.	.	.	.	.	.	0.553	0.57860	.	.	.	.	.	.	.	0.45086047	0.58689	T	.	.	.	.	.	.	.	0.456647468687	0.45291	0.8867280223172282	0.88641	.	.	0.398606598377	0.24874	T	0.025436	0.35537	T	0.163225	0.70500	D	-0.00331565	0.70121	D	.	.	.	0.937806	0.78939	D	0.76270866	0.81614	0.69800264	0.82213	0.76270866	0.81615	0.69800264	0.82214	-9.592	0.71430	D	.	.	0.950	0.86857	P	.;.;.	.;.;.	3.454651	0.48119	22.6	0.99707451619795451	0.81074	0.77981	0.38408	D	AEFI	0.799589	0.72581	D	.	.	.	.	.	.	2.3174768173114E-5	0.03498	0.053691	0.00478	0	0.063388	0.01293	0	0.060301	0.00762	0	0.057018	0.00518	0	.	.	3.71	2.86	0.32427	2.765000	0.47304	4.616000	0.44056	0.549000	0.26987	0.378000	0.25989	0.437000	0.24884	0.144000	0.20092	0.0:0.9091:0.0:0.0909	11.418	0.49207	625	0.65529	Alcohol dehydrogenase, N-terminal|Alcohol dehydrogenase, zinc-type, conserved site|Polyketide synthase, enoylreductase domain;Alcohol dehydrogenase, N-terminal|Alcohol dehydrogenase, zinc-type, conserved site;Alcohol dehydrogenase, N-terminal|Alcohol dehydrogenase, zinc-type, conserved site	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3333	1384.73	96	chr4	99347057	.	C	G	1384.73	.	AC=6;AF=0.333;AN=18;BaseQRankSum=-0.852;DP=1202;ExcessHet=4.5998;FS=272.732;InbreedingCoeff=-0.4818;MLEAC=6;MLEAF=0.333;MQ=60;MQRankSum=0;QD=2.14;ReadPosRankSum=-0.703;SOR=11.305	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:56,40:96:99:.:.:276,0,772:.	3	0	6	1
chr4	101196011	101196011	C	G	exonic	PPP3CA	.	nonsynonymous SNV	PPP3CA:NM_000944:exon2:c.G164C:p.R55T,PPP3CA:NM_001130691:exon2:c.G164C:p.R55T,PPP3CA:NM_001130692:exon2:c.G164C:p.R55T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.561	0.243660755304	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	2.736e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.91255	D	0.021	0.79402	D	0.998	0.73220	D	0.975	0.73362	D	0.000004	0.62929	D	0.056881	0.999999	0.81001	D	3.325	0.90780	M	3.41	0.70365	T	-3.5	0.88148	D	0.874	0.87157	0.511	0.90696	D	0.660	0.88193	D	10	0.82876897	0.82046	D	0.243661	0.88811	D	0.561	0.82003	0.413	0.45052	0.874410110515	0.87318	0.9160898921350675	0.91583	2.69341285729	0.98560	0.813101530075	0.83969	D	0.783131	0.94293	D	0.365848	0.87692	D	0.287739	0.87534	D	0.98066520690918	0.73482	D	0.997593	0.99042	D	0.93468946	0.94708	0.8180235	0.89412	0.93468946	0.94709	0.8180235	0.89413	-3.957	0.99447	T	0.7273859440343144	0.80888	0.972	0.95832	P	.;.;.;.;.;.	.;.;.;.;.;.	4.473321	0.69731	25.4	0.96904989471550151	0.31554	0.98495	0.83383	D	AEFBI	0.911333	0.87045	D	0.976696518006935	0.94982	13.20586	0.918319001961986	0.96323	14.55806	1.0	0.98316	0.706298	0.61202	0	0.670034	0.63936	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	5.65	5.65	0.86881	7.624000	0.82310	7.603000	0.61629	0.599000	0.40250	0.998000	0.41325	1.000000	0.68203	0.994000	0.71098	0.0:1.0:0.0:0.0	19.084	0.93179	946	0.12043	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.375	558.94	158	chr4	101196011	.	C	G	558.94	.	AC=3;AF=0.375;AN=8;BaseQRankSum=-2.583;DP=1017;ExcessHet=0.7463;FS=218.697;InbreedingCoeff=-0.4286;MLEAC=5;MLEAF=0.625;MQ=60;MQRankSum=0;QD=1.12;ReadPosRankSum=2.31;SOR=9.437	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:98,60:158:99:.:.:273,0,1620:.	1	0	3	6
chr4	102911453	102911453	C	T	exonic	SLC9B1	.	nonsynonymous SNV	SLC9B1:NM_001100874:exon8:c.G914A:p.R305Q,SLC9B1:NM_139173:exon8:c.G914A:p.R305Q	.	602	909	8	3	0	14	0.00764192	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.071	0.0017218355093	.	.	0.0017	0.0021	0.0019	0.0026	0.0003	0.0017	0	0.0011	0.0022639	350	154602	rs200795458	9.344e-05	0.0016	9.162e-05	9.527e-05	0.0005	8.043e-05	7.507e-05	0.0003	0.0003	6.046e-05	0.0002	0.0005	2.542e-05	5.164e-05	0.0005	4.524e-05	0.0003	0.0004	0.0002	0.0033	0.0002	0.0003	0.0006	0.0002	0.0002	0.0002	0.0002	0.0002	0	0.0005	0	0.0006	0.0002	0	0.0002	0.0015	0.0002	0.575	0.06106	T	0.558	0.15157	T	0.041	0.24734	B	0.024	0.20255	B	0.715366	0.09980	N	0.875838	1	0.08975	N	0.28	0.10031	N	2.46	0.17113	T	-0.09	0.12847	N	0.211	0.23506	-0.9640	0.38409	T	0.020	0.08453	T	10	0.014503986	0.00305	T	0.001722	0.02882	T	0.071	0.20720	.	.	0.0297737177859	0.01360	0.18350414327736794	0.18269	0.262470570892	0.28810	0.189090907574	0.00209	T	0.006554	0.05980	T	-0.367994	0.03697	T	-0.766375	0.02889	T	0.00297670112536826	0.00031	T	0.686031	0.34984	T	0.03126998	0.02936	0.06744009	0.13950	0.03126998	0.02936	0.06744009	0.13950	-3.1	0.12926	T	.	.	0.077	0.12037	B	.;.;.;.	.;.;.;.	0.098538	0.05004	1.561	0.83262309187141059	0.14629	0.00628	0.02764	N	AEFI	0.057154	0.10625	N	-1.62095146133237	0.01164	0.05056828	-1.6387140425188	0.01435	0.06490251	6.1228187821526E-4	0.07460	0.533608	0.22052	0	0.588015	0.36545	0	0.573888	0.23631	0	0.638833	0.57524	0	.	.	4.36	-5.77	0.02176	-0.090000	0.11129	-1.642000	0.05002	-2.010000	0.00442	0.010000	0.18352	0.000000	0.08366	0.868000	0.41282	0.0:0.2279:0.0:0.7721	13.863	0.63071	907	0.22727	.;Cation/H+ exchanger;.;Cation/H+ exchanger	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.027284	0.098592	0.002747	0.017241	0.000000	0.052632	0.023256	0.048780	0.1	62.37	86	chr4	102911453	.	C	T	62.37	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-1.118;DP=571;ExcessHet=0.2348;FS=4.082;InbreedingCoeff=-0.1066;MLEAC=2;MLEAF=0.1;MQ=57;MQRankSum=-4.918;QD=0.37;ReadPosRankSum=2.92;SOR=0.576	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:80,6:86:11:.:.:11,0,3297:.	8	0	2	0
chr4	103136326	103136326	G	C	exonic	CENPE	.	nonsynonymous SNV	CENPE:NM_001286734:exon38:c.C5974G:p.H1992D,CENPE:NM_001813:exon40:c.C6337G:p.H2113D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.066	0.028523647828	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.605	0.06502	T	0.523	0.11041	T	0.001	0.07471	B	0.001	0.04355	B	.	.	.	.	1	0.08975	N	0.975	0.24501	L	-0.12	0.68474	T	-0.21	0.14000	N	0.325	0.52563	-0.9663	0.37954	T	0.149	0.47593	T	9	0.09755194	0.17577	T	0.028524	0.51190	D	0.066	0.19193	0.191	0.10171	0.265735104816	0.26182	0.14524724556588528	0.14447	0.0473477167418	0.05163	0.345251023769	0.17220	T	0.037984	0.24677	T	-0.243331	0.14928	T	-0.587304	0.13901	T	0.0400324318825911	0.03696	T	0.483152	0.15946	T	0.050070364	0.08988	0.08277268	0.18916	0.050070364	0.08988	0.08277268	0.18916	-2.662	0.06989	T	.	.	0.075	0.35560	B	.;.;.	.;.;.	0.478960	0.08482	5.245	0.93954692053520583	0.24018	0.05386	0.11251	N	AEFBHCI	0.040395	0.06003	N	-1.14524887804146	0.05858	0.268178	-1.16791246311224	0.06452	0.3106326	0.992481738987351	0.32856	0.50712	0.20391	0	0.708844	0.79440	0	0.608884	0.39905	0	0.635259	0.50027	0	.	.	5.26	-2.52	0.05978	-0.215000	0.09284	0.355000	0.17517	-0.172000	0.11096	0.000000	0.06391	0.001000	0.17328	0.967000	0.53440	0.1774:0.5688:0.2538:0.0	8.929	0.34820	912	0.21483	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	764.43	53	chr4	103136326	.	G	C	764.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.793;DP=357;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.42;ReadPosRankSum=-0.973;SOR=0.732	GT:AD:DP:GQ:PL	0/1:20,33:53:99:776,0,440	9	0	1	0
chr4	105667304	105667304	G	A	exonic	ARHGEF38	.	nonsynonymous SNV	ARHGEF38:NM_001242729:exon12:c.G1865A:p.S622N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.240	0.0175769529595	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1010572176	7.227e-07	6.84e-07	1.427e-06	0	3.165e-05	0	0	.	.	3.165e-05	0	0	0	0	0	0	0	0	2.628e-05	2.627e-05	3.854e-05	1.345e-05	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	0.86	0.02671	T	0.205	0.27145	T	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	1.755	0.45626	L	2.88	0.10291	T	1.11	0.01213	N	0.325	0.36569	-1.0608	0.11557	T	0.076	0.30429	T	9	0.3373795	0.50861	T	0.017577	0.39335	T	0.240	0.54500	0.621	0.75576	0.314716216878	0.31082	0.3341853426452334	0.33331	0.260682108502	0.28632	0.534233272076	0.43631	T	0.003269	0.02677	T	-0.249006	0.14221	T	-0.595456	0.13196	T	0.836334228515625	0.49031	D	0.754325	0.37688	T	0.17490518	0.38320	0.22896437	0.47954	0.17490518	0.38320	0.22896437	0.47953	-4.766	0.34192	T	.	.	0.169	0.37198	B	.	.	3.515973	0.49260	22.7	0.98314130222591689	0.40173	0.98861	0.87830	D	AEFCI	0.929434	0.91517	D	0.702650811531425	0.79804	7.156177	0.721680655465789	0.84025	8.17844	0.999999998876583	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	5.73	5.73	0.89730	9.113000	0.93637	9.891000	0.82274	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.989000	0.64315	0.0:0.0:1.0:0.0	19.916	0.97059	856	0.34373	SH3 domain|SH3 domain|SH3 domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	2624.43	198	chr4	105667304	.	G	A	2624.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.95;DP=517;ExcessHet=0;FS=4.068;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.25;ReadPosRankSum=-0.127;SOR=0.455	GT:AD:DP:GQ:PL	0/1:100,98:198:99:2636,0,2491	9	0	1	0
chr4	106925843	106925843	C	T	exonic	DKK2	.	nonsynonymous SNV	DKK2:NM_014421:exon2:c.G329A:p.C110Y	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.35	639.89	106	chr4	106925843	.	C	T	639.89	.	AC=7;AF=0.35;AN=20;BaseQRankSum=-3.655;DP=1109;ExcessHet=7.0302;FS=156.498;InbreedingCoeff=-0.5348;MLEAC=7;MLEAF=0.35;MQ=59.99;MQRankSum=0;QD=0.65;ReadPosRankSum=1.63;SOR=10.97	GT:AD:DP:GQ:PL	0/1:75,31:106:99:210,0,1363	3	0	7	0
chr4	109844087	109844087	C	T	exonic	RRH	.	nonsynonymous SNV	RRH:NM_006583:exon7:c.C904T:p.R302W	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.575	0.0667515066112	.	.	4.944e-05	0	0.0003	0	0	1.499e-05	0	6.056e-05	3.88e-05	6	154602	rs201095132	2.266e-05	2.531e-05	2.188e-05	2.346e-05	0.0003	1.616e-05	1.422e-05	0.0002	0.0002	0	0.0003	0	2.523e-05	0	0	1.265e-05	0	4.644e-05	6.578e-05	6.568e-05	1.286e-05	0.0001	0.0006	3.52e-05	2.619e-05	0.0003	0.0002	2.416e-05	0	0.0006	0	0	0	0	0	0	0	0.074	0.34621	T	0.006	0.70582	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	0.999996	0.58761	D	2.28	0.64929	M	0.34	0.58176	T	-3.75	0.71157	D	0.925	0.92901	-0.4157	0.71529	T	0.311	0.68121	T	10	0.8565112	0.84850	D	0.066752	0.69967	D	0.575	0.82799	.	.	0.862871083107	0.86154	0.9615599888432588	0.96141	0.203320542894	0.22746	0.475182056427	0.35395	T	0.339873	0.70897	T	0.0377644	0.56752	T	0.126988	0.78694	D	0.621816592589026	0.37280	D	0.96937	0.88985	D	0.8715029	0.88981	0.7472881	0.85063	0.8715029	0.88982	0.7472881	0.85064	-9.947	0.73594	D	.	.	0.704	0.73136	P	.	.	4.898292	0.80482	27.3	0.99922629793175055	0.98852	0.88822	0.48937	D	AEFI	0.620839	0.60575	D	0.569217924360951	0.71259	5.623873	0.543941753891876	0.70977	5.585248	0.0132572775542174	0.12439	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	5.9	5.05	0.67566	1.679000	0.37213	4.050000	0.41500	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.942000	0.48361	0.2749:0.725:0.0:0.0	14.039	0.64183	691	0.58815	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	934.43	124	chr4	109844087	.	C	T	934.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.05;DP=442;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=7.54;ReadPosRankSum=0.165;SOR=0.713	GT:AD:DP:GQ:PL	0/1:83,41:124:99:946,0,2166	9	0	1	0
chr4	110520215	110520215	G	C	exonic	ENPEP	.	nonsynonymous SNV	ENPEP:NM_001379611:exon10:c.G1576C:p.A526P,ENPEP:NM_001379612:exon10:c.G1576C:p.A526P,ENPEP:NM_001379613:exon10:c.G1576C:p.A526P,ENPEP:NM_001977:exon10:c.G1576C:p.A526P	.	.	.	.	.	.	.	.	0.9999	0.976	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.359	0.0350676231291	0.0005	0.000199681	0.0002	9.656e-05	8.663e-05	0	0	0.0004	0.0011	0	0.0002199	34	154602	rs143234247	0.0004	0.0004	0.0004	0.0004	0.0004	0.0004	0.0003	0.0004	0.0004	2.988e-05	0	0.0033	0	0.0001	0	0.0004	0.0003	3.483e-05	0.0002	0.0002	0.0003	0.0002	0.0003	0.0002	0.0001	0.0002	0.0002	9.662e-05	0	6.558e-05	0.0017	0	9.493e-05	0	0.0003	0	0	0.166	0.23183	T	0.181	0.29346	T	0.999	0.77913	D	0.926	0.66095	D	0.005057	0.33144	U	0.113338	1	0.81001	D	3.94	0.96382	H	3.3	0.06368	T	-2.49	0.54217	N	0.42	0.45992	-0.8860	0.49273	T	0.099	0.36830	T	9	0.03955713	0.02456	T	0.035068	0.56099	D	0.359	0.67962	.	.	0.451692371253	0.44791	0.9053898121281115	0.90511	0.508552499449	0.49004	0.441184520721	0.30738	T	0.392613	0.75224	T	-0.0595725	0.42975	T	-0.0230243	0.68829	D	0.238579890347787	0.22353	T	0.906209	0.66975	D	0.88182545	0.89818	0.7381235	0.84521	0.88182545	0.89819	0.7381235	0.84522	-9.59	0.71418	D	.	.	0.807	0.77612	P	.	.	5.349891	0.89743	31	0.99724875007005986	0.82336	0.98086	0.79479	D	AEFBI	0.966211	0.98862	D	0.803373584663557	0.86318	8.846501	0.696055187578684	0.82077	7.679038	0.999999999981582	0.74766	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	5.83	5.83	0.93059	5.219000	0.65094	11.865000	0.98423	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.034000	0.13613	0.0:0.0:1.0:0.0	19.710	0.96090	851	0.35303	Peptidase M1, membrane alanine aminopeptidase, N-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1783.43	123	chr4	110520215	.	G	C	1783.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.526;DP=441;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.5;ReadPosRankSum=-0.704;SOR=0.749	GT:AD:DP:GQ:PL	0/1:56,67:123:99:1795,0,1647	9	0	1	0
chr4	140563137	140563137	C	G	exonic	UCP1	.	nonsynonymous SNV	UCP1:NM_021833:exon4:c.G601C:p.A201P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.377	0.0293953235492	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.759e-05	0.0002	3.296e-05	2.218e-05	3.267e-05	2.08e-05	1.831e-05	2.392e-05	2.122e-05	3.018e-05	0	0	0	0	0	3.267e-05	1.667e-05	2.335e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.176	0.22312	T	0.203	0.27325	T	0.949	0.53761	P	0.761	0.56482	P	0.008935	0.30598	N	0.367111	1	0.08975	N	3.205	0.89189	M	-1.23	0.78860	T	-2.05	0.47008	N	0.643	0.65501	-0.4766	0.69490	T	0.493	0.80757	T	10	0.76555115	0.76675	D	0.029395	0.51914	D	0.377	0.69527	0.425	0.47021	0.867737003841	0.86645	0.8997779227898309	0.89949	0.733378337434	0.62839	0.275326251984	0.06849	T	0.503659	0.82306	D	0.0583213	0.59402	T	-0.154002	0.58889	T	0.917825281620026	0.57582	D	0.40366	0.10339	T	0.28733265	0.51744	0.26873308	0.52745	0.28733265	0.51744	0.26873308	0.52744	-7.449	0.57250	T	.	.	0.826	0.78531	P	.	.	2.363669	0.30321	18.40	0.99216242249267406	0.55747	0.70984	0.34819	D	AEFBI	0.260905	0.37897	N	-0.150634784784455	0.35206	2.019386	-0.344403961495631	0.26682	1.475416	0.680793574183654	0.22476	0.615465	0.37627	0	0.547309	0.14657	0	0.658983	0.55881	0	0.542086	0.14980	0	.	.	5.22	0.338	0.15214	1.750000	0.37956	-0.150000	0.11428	-0.176000	0.10722	0.930000	0.32276	0.000000	0.08366	0.270000	0.23768	0.1804:0.289:0.0:0.5306	3.693	0.07887	940	0.13648	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.45	2255.24	79	chr4	140563137	.	C	G	2255.24	.	AC=9;AF=0.45;AN=20;BaseQRankSum=-2.837;DP=883;ExcessHet=15.1594;FS=200.301;InbreedingCoeff=-0.8222;MLEAC=9;MLEAF=0.45;MQ=60;MQRankSum=0;QD=3.08;ReadPosRankSum=-0.592;SOR=10.902	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:43,30:79:99:.:.:549,0,1283:.	1	0	9	0
chr4	140563138	140563138	C	G	exonic	UCP1	.	nonsynonymous SNV	UCP1:NM_021833:exon4:c.G600C:p.E200D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.090	0.0146202776725	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.847e-07	2.052e-06	1.362e-06	0	8.997e-07	0	0	.	.	0	0	0	0	0	0	8.997e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.631	0.05137	T	0.791	0.04181	T	0.004	0.12183	B	0.007	0.12992	B	0.003241	0.35241	N	0.324932	0.999999	0.08975	N	0.56	0.15190	N	-1.27	0.79277	T	-0.52	0.16187	N	0.133	0.12913	-1.0108	0.26666	T	0.158	0.49027	T	10	0.05424103	0.05744	T	0.01462	0.34856	T	0.090	0.26093	0.368	0.37687	0.494433119893	0.49078	0.5936266468194845	0.59292	0.149167586053	0.16817	0.271067947149	0.06281	T	0.121596	0.44467	T	-0.194226	0.21639	T	-0.516769	0.20622	T	0.0746878460049629	0.09294	T	0.60264	0.22576	T	0.06687306	0.14429	0.04191142	0.04870	0.06687306	0.14429	0.04191142	0.04870	-4.395	0.29489	T	.	.	0.106	0.19720	B	.	.	0.547365	0.09157	5.942	0.36715842428115708	0.02377	0.06566	0.12580	N	AEFBI	0.061408	0.11738	N	-1.30471918549485	0.03621	0.1620578	-1.29537821251235	0.04493	0.2120394	0.729658486604041	0.23029	0.554377	0.28877	0	0.547309	0.14657	0	0.602189	0.34648	0	0.542086	0.14980	0	.	.	5.22	-1.38	0.08554	-1.260000	0.02967	-2.964000	0.03187	-0.218000	0.08083	0.004000	0.16614	0.000000	0.08366	0.312000	0.24784	0.2442:0.2523:0.3582:0.1453	2.216	0.03717	940	0.13648	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	2261.8	79	chr4	140563138	.	C	G	2261.8	.	AC=9;AF=0.5;AN=18;BaseQRankSum=-1.878;DP=877;ExcessHet=15.1594;FS=206.912;InbreedingCoeff=-0.9048;MLEAC=9;MLEAF=0.5;MQ=60;MQRankSum=0;QD=3.16;ReadPosRankSum=-0.474;SOR=10.902	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:43,30:79:99:.:.:549,0,1283:.	0	0	9	1
chr4	151656246	151656246	G	A	exonic	FAM160A1	.	nonsynonymous SNV	FAM160A1:NM_001348694:exon11:c.G2566A:p.V856I,FAM160A1:NM_001109977:exon12:c.G2566A:p.V856I	.	422	1099	1	0	0	1	0.000454752	.	.	.	2755738	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.198	0.00824945657894	.	.	0.0004	0	0	0	0	0	0	0.0010	5.82e-05	9	154602	rs369125491	7.361e-05	7.182e-05	5.359e-05	9.418e-05	0.0007	6.177e-05	5.769e-05	0.0005	0.0005	0	5.602e-05	0	0	0.0004	0.0002	1.761e-05	0.0001	0.0007	5.911e-05	5.905e-05	5.141e-05	6.716e-05	0.0004	3.076e-05	2.209e-05	7.31e-05	3.036e-05	2.408e-05	0	6.534e-05	0	0	0.0004	0	1.47e-05	0	0.0004	0.008	0.58626	D	0.011	0.64786	D	0.999	0.77913	D	0.604	0.50922	P	.	.	.	.	0.99749	0.43934	D	2.53	0.73802	M	2.33	0.16492	T	-0.82	0.22508	N	0.258	0.29659	-1.0791	0.07524	T	0.084	0.32729	T	9	0.13535148	0.25756	T	0.008249	0.21853	T	0.198	0.48105	0.221	0.14371	0.134241683229	0.13084	0.31098400017869293	0.31011	.	.	0.742983937263	0.73412	T	0.037811	0.24611	T	-0.39076	0.02660	T	-0.439392	0.28876	T	0.236919277856821	0.22277	T	0.911109	0.68490	D	0.17616093	0.38513	0.1902983	0.42425	0.17616093	0.38513	0.1902983	0.42424	-9.364	0.70010	D	.	.	0.330	0.56760	B	.;.	.;.	5.171023	0.86670	29.0	0.99707609432796351	0.81074	0.99104	0.91284	D	AEFBI	0.887324	0.81947	D	0.759549624615598	0.83524	8.040334	0.776809052401499	0.88137	9.471377	0.999999999999997	0.74766	0.732398	0.92422	0	0.588066	0.40923	0	0.743671	0.96076	0	0.586402	0.36253	0	.	.	5.45	5.45	0.79688	9.888000	0.98558	11.844000	0.97886	0.675000	0.71128	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	19.281	0.94039	317	0.87119	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1564.43	133	chr4	151656246	.	G	A	1564.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.99;DP=442;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.76;ReadPosRankSum=-0.219;SOR=0.664	GT:AD:DP:GQ:PL	0/1:71,62:133:99:1576,0,1591	9	0	1	0
chr4	168898668	168898668	T	C	exonic	PALLD	.	nonsynonymous SNV	PALLD:NM_001367567:exon4:c.T254C:p.M85T,PALLD:NM_001367569:exon4:c.T254C:p.M85T,PALLD:NM_001166110:exon5:c.T914C:p.M305T,PALLD:NM_001367568:exon5:c.T305C:p.M102T,PALLD:NM_001367570:exon5:c.T305C:p.M102T,PALLD:NM_001166109:exon12:c.T1229C:p.M410T,PALLD:NM_016081:exon13:c.T2375C:p.M792T,PALLD:NM_001166108:exon14:c.T2426C:p.M809T	.	.	.	.	.	.	.	.	.	.	.	4005620	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.279	0.0397687347451	.	.	8.24e-06	0	0	0	0	1.499e-05	0	0	6.5e-06	1	154602	rs781250247	2.07e-06	2.056e-06	4.124e-06	0	2.726e-06	5.5e-07	1.5e-07	7.3e-07	2e-07	0	0	0	0	0	0	2.726e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.486	0.12428	T	0.463	0.23707	T	.	.	.	.	.	.	0.001676	0.38326	U	0.000000	0.999968	0.81001	D	.	.	.	-0.55	0.71068	T	-2.21	0.72594	N	0.834	0.82964	-0.6935	0.60745	T	0.210	0.56933	T	10	0.30150113	0.47692	T	0.039769	0.58997	D	0.279	0.59619	.	.	0.641199583376	0.63823	0.5348204186873708	0.53407	0.808502915327	0.66620	0.717784404755	0.69723	T	0.08085	0.36460	T	0.141406	0.68459	D	-0.0346559	0.68059	D	0.576772583678845	0.35494	D	0.686731	0.31793	T	.	.	.	.	.	.	.	.	-8.267	0.67607	D	.	.	0.751	0.78309	P	.;.;.;.;.;.	.;.;.;.;.;.	4.050325	0.60035	24.2	0.84874175254793893	0.15549	0.97797	0.77204	D	AEFBI	0.776798	0.70979	D	0.146184386989402	0.48631	3.07305	0.269934385284283	0.53793	3.546451	0.99999999424337	0.74766	0.706548	0.73137	0	0.588066	0.40923	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.55	5.55	0.83298	6.167000	0.71757	6.181000	0.54632	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.742000	0.35507	0.0:0.0:0.0:1.0	15.690	0.77200	949	0.11373	Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;.;.;.;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.25	504.2	65	chr4	168898668	.	T	C	504.2	.	AC=5;AF=0.25;AN=20;BaseQRankSum=-2.282;DP=732;ExcessHet=2.8389;FS=90.232;InbreedingCoeff=-0.3343;MLEAC=5;MLEAF=0.25;MQ=60;MQRankSum=0;QD=1.3;ReadPosRankSum=1.44;SOR=9.19	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:55,10:65:51:0|1:168898668_T_C:51,0,1896:168898668	5	0	5	0
chr4	168898669	168898669	G	A	exonic	PALLD	.	nonsynonymous SNV	PALLD:NM_001367567:exon4:c.G255A:p.M85I,PALLD:NM_001367569:exon4:c.G255A:p.M85I,PALLD:NM_001166110:exon5:c.G915A:p.M305I,PALLD:NM_001367568:exon5:c.G306A:p.M102I,PALLD:NM_001367570:exon5:c.G306A:p.M102I,PALLD:NM_001166109:exon12:c.G1230A:p.M410I,PALLD:NM_016081:exon13:c.G2376A:p.M792I,PALLD:NM_001166108:exon14:c.G2427A:p.M809I	.	.	.	.	.	.	.	.	.	.	.	1845107	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.201	0.0305366275154	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.842e-07	6.841e-07	0	1.375e-06	8.994e-07	0	0	.	.	0	0	0	0	0	0	8.994e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.399	0.21801	T	0.479	0.55759	T	.	.	.	.	.	.	0.001676	0.38326	U	0.000000	0.999973	0.81001	D	.	.	.	-0.62	0.71895	T	-1.59	0.56787	N	0.698	0.70263	-0.5390	0.67201	T	0.308	0.67867	T	10	0.359553	0.52621	T	0.030537	0.52827	D	0.201	0.48592	.	.	0.711221558017	0.70869	0.507454384894299	0.50667	0.790969623184	0.65777	0.635476946831	0.57922	T	0.084931	0.37388	T	0.0964953	0.63912	D	-0.0991676	0.63462	T	0.720881402492523	0.41743	D	0.822018	0.50309	T	.	.	.	.	.	.	.	.	-9.058	0.70411	D	.	.	0.834	0.80161	P	.;.;.;.;.;.	.;.;.;.;.;.	4.080126	0.60688	24.2	0.96356890166856102	0.29537	0.98354	0.81929	D	AEFBI	0.905065	0.85613	D	0.294826853967169	0.55886	3.752753	0.408467051562211	0.62091	4.418906	0.999999980908939	0.74766	0.706548	0.73137	0	0.588066	0.40923	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.55	5.55	0.83298	8.002000	0.88029	11.829000	0.97466	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.714000	0.34579	0.0:0.0:1.0:0.0	19.497	0.95071	949	0.11373	Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;.;.;.;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.35	1321.94	65	chr4	168898669	.	G	A	1321.94	.	AC=7;AF=0.35;AN=20;BaseQRankSum=-2.208;DP=795;ExcessHet=7.0302;FS=119.457;InbreedingCoeff=-0.5379;MLEAC=7;MLEAF=0.35;MQ=60;MQRankSum=0;QD=2.39;ReadPosRankSum=0.663;SOR=9.657	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:55,10:65:51:0|1:168898668_T_C:51,0,1896:168898668	3	0	7	0
chr4	176711629	176711629	G	C	exonic	VEGFC	.	nonsynonymous SNV	VEGFC:NM_005429:exon4:c.C574G:p.L192V	Lymphedema, hereditary, ID, Autosomal dominant	.	.	.	.	.	.	.	.	.	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	0.389	0.00457388535514	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	6.84e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.118	0.36233	T	0.018	0.17786	B	0.016	0.17743	B	0.000002	0.62929	D	0.060984	0.999978	0.53665	D	1.445	0.36358	L	.	.	.	.	.	.	0.211	0.23506	-0.9162	0.46063	T	0.201	0.55723	T	9	0.21782258	0.38406	T	0.004574	0.11283	T	.	.	0.338	0.32816	0.258283824007	0.25425	0.20722753188937795	0.20638	.	.	0.476231843233	0.35538	T	0.511562	0.82742	D	-0.225602	0.17235	T	-0.561838	0.16204	T	0.975354909896851	0.70898	D	0.818018	0.47523	T	0.68111783	0.77030	0.5560567	0.74322	0.68111783	0.77031	0.5560567	0.74323	-3.092	0.11205	T	.	.	0.149	0.32898	B	.	.	2.846774	0.37571	20.5	0.99481528693655874	0.66904	0.93293	0.57830	D	AEFDGBIJ	0.738481	0.68334	D	0.0495151208025927	0.44120	2.691901	0.265583808111138	0.53542	3.522512	0.999999999071338	0.74766	0.50712	0.20391	0	0.573888	0.26702	0	0.658983	0.55881	0	0.635259	0.50027	0	.	.	5.98	5.98	0.97147	4.780000	0.62075	7.388000	0.58495	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:1.0:0.0	20.437	0.99095	901	0.24189	PDGF/VEGF domain|PDGF/VEGF domain|PDGF/VEGF domain|PDGF/VEGF domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.25	495.27	103	chr4	176711629	.	G	C	495.27	.	AC=5;AF=0.25;AN=20;BaseQRankSum=-5.125;DP=738;ExcessHet=2.8389;FS=92.991;InbreedingCoeff=-0.355;MLEAC=5;MLEAF=0.25;MQ=60;MQRankSum=0;QD=1.13;ReadPosRankSum=0.696;SOR=9.065	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:90,13:103:82:0|1:176711629_G_C:82,0,3515:176711629	5	0	5	0
chr4	176711631	176711631	G	C	exonic	VEGFC	.	nonsynonymous SNV	VEGFC:NM_005429:exon4:c.C572G:p.P191R	Lymphedema, hereditary, ID, Autosomal dominant	.	.	.	.	.	.	.	.	.	YES	1678376	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.573	0.0164080950575	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0006	0.0079	0.0007	0.0006	0.0007	0.0006	0.0006	0.0007	0.0007	0.0004	0.0001	0.0006	0.0005	0.0003	0.0004	0.0007	0.0006	0.0001	0	1.318e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	0.004	0.74150	D	1.0	0.90584	D	0.988	0.77976	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.78	0.81115	M	.	.	.	.	.	.	0.909	0.91047	-0.3248	0.74287	T	0.394	0.74735	T	9	0.8736812	0.86647	D	0.016408	0.37653	T	.	.	0.546	0.66015	0.51627217869	0.51271	0.670927250296511	0.67030	.	.	0.735086381435	0.72250	T	0.838317	0.96206	D	0.453469	0.92634	D	0.414	0.92543	D	0.994541704654694	0.85897	D	0.888611	0.61875	D	0.8869157	0.90244	0.57547873	0.75406	0.8869157	0.90246	0.57547873	0.75407	-14.113	0.93418	D	.	.	0.912	0.83607	P	.	.	5.440469	0.90928	32	0.99696376373392925	0.80316	0.99228	0.93120	D	AEFDGBIJ	0.929678	0.91581	D	0.858986860426177	0.89613	10.04438	0.885812039272356	0.94923	13.15767	1.0	0.98316	0.50712	0.20391	0	0.573888	0.26702	0	0.658983	0.55881	0	0.635259	0.50027	0	.	.	5.98	5.98	0.97147	9.591000	0.97403	11.818000	0.97148	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:1.0:0.0	20.437	0.99095	901	0.24189	PDGF/VEGF domain|PDGF/VEGF domain|PDGF/VEGF domain|PDGF/VEGF 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	.	.	.	.	.	.	.	.	0.3889	630.24	103	chr4	176711631	.	G	C	630.24	.	AC=7;AF=0.389;AN=18;BaseQRankSum=-1.638;DP=842;ExcessHet=7.0302;FS=94.732;InbreedingCoeff=-0.6311;MLEAC=8;MLEAF=0.444;MQ=60;MQRankSum=0;QD=1.05;ReadPosRankSum=0.219;SOR=9.608	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:90,13:103:82:0|1:176711629_G_C:82,0,3515:176711629	2	0	7	1
chr4	183253920	183253920	C	T	exonic	WWC2	.	nonsynonymous SNV	WWC2:NM_024949:exon9:c.C1117T:p.R373C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.103	0.00988591854046	.	.	4.178e-05	0	0	0	0	0	0	0.0003	3.23e-05	5	154602	rs755775249	3.284e-05	3.283e-05	2.859e-05	3.714e-05	0.0002	2.544e-05	2.249e-05	0.0001	8.65e-05	2.987e-05	4.473e-05	0	0	0	0.0002	2.428e-05	3.313e-05	0.0002	5.261e-05	5.254e-05	3.856e-05	6.731e-05	0.0004	2.559e-05	1.831e-05	7.299e-05	3.032e-05	4.83e-05	0	0	0	0	0	0	5.882e-05	0	0.0004	0.012	0.56456	D	0.003	0.83351	D	0.004	0.12183	B	0.0	0.01387	B	0.479271	0.12185	N	0.778142	0.999999	0.08975	N	1.73	0.44655	L	3.35	0.07125	T	-5.0	0.83027	D	0.168	0.21580	-1.0285	0.20940	T	0.038	0.16376	T	10	0.080553144	0.13088	T	0.009886	0.25766	T	0.103	0.29403	0.321	0.30064	0.307332253619	0.30352	0.06882124048762352	0.06820	0.0349017754887	0.03680	0.251774549484	0.03957	T	0.157174	0.49965	T	-0.422284	0.01655	T	-0.584679	0.14130	T	0.132878384885037	0.15646	T	0.527847	0.22079	T	0.093689404	0.22012	0.12073083	0.29135	0.093689404	0.22011	0.12073083	0.29134	-7.657	0.59389	D	.	.	0.079	0.11220	B	.;.;.;.	.;.;.;.	2.090055	0.26587	17.17	0.97865010272719233	0.36492	0.84957	0.44054	D	AEFBI	0.342834	0.43886	N	-0.765530918101605	0.14215	0.7063007	-0.752090671754514	0.15670	0.8253421	0.831822169756019	0.24707	0.732398	0.92422	0	0.59043	0.45803	0	0.724815	0.87919	0	0.727631	0.95156	0	.	.	5.65	1.75	0.23707	1.097000	0.30600	0.293000	0.16894	-1.802000	0.00623	0.943000	0.32764	0.000000	0.08366	0.000000	0.00833	0.1231:0.6681:0.0:0.2088	7.988	0.29383	961	0.08552	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	1264.43	108	chr4	183253920	.	C	T	1264.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.64;DP=438;ExcessHet=0;FS=0.721;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.71;ReadPosRankSum=0.578;SOR=0.612	GT:AD:DP:GQ:PL	0/1:60,48:108:99:1276,0,1455	9	0	1	0
chr4	189953101	189953101	C	T	exonic	FRG1	.	nonsynonymous SNV	FRG1:NM_004477:exon4:c.C293T:p.T98M	.	169	1019	334	0	0	334	0.140809	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.267	.	.	.	0.4080	0.3423	0.3991	0.3531	0.3948	0.4099	0.4323	0.4613	0.0003816	59	154602	rs201275486	7.611e-05	0.0007	8.045e-05	7.169e-05	0.0003	6.427e-05	5.97e-05	0.0002	0.0002	6.318e-05	0.0003	0.0001	2.682e-05	0.0001	0.0003	5.437e-05	5.221e-05	0.0003	7.555e-05	0.0010	4.012e-05	0.0001	5.02e-05	4.146e-05	3.255e-05	8.32e-06	3.11e-06	5.02e-05	0	0	0	0	0.0007	0	3.052e-05	0	0	0.04	0.42199	D	0.067	0.44302	T	0.952	0.54136	P	0.4	0.44481	B	0.000001	0.84330	D	0.093692	1	0.81001	D	.	.	.	1.78	0.52642	T	-4.29	0.76414	D	0.333	0.37405	-0.8920	0.48758	T	0.126	0.43174	T	9	0.005040586	0.00109	T	.	.	.	0.267	0.58126	.	.	.	.	0.7086331413770478	0.70805	0.761265370882	0.64277	0.643288969994	0.59033	T	0.592736	0.86832	D	0.145454	0.68842	D	-0.0288412	0.68446	D	0.0610726985776521	0.07336	T	.	.	.	0.11254749	0.26589	0.23484966	0.48713	0.11254749	0.26589	0.23484966	0.48712	-9.66	0.71851	D	.	.	0.172	0.47039	B	.;.	.;.	3.588897	0.50628	23.0	0.99818926167319089	0.90238	0.93303	0.57857	D	AEFBI	0.649950	0.62423	D	0.332693509411821	0.57835	3.952406	0.333491443171521	0.57519	3.917869	0.999999999185946	0.74766	0.732398	0.92422	0	0.644132	0.57912	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	3.71	3.71	0.41733	4.481000	0.59983	3.605000	0.39235	-0.252000	0.07121	1.000000	0.71638	0.999000	0.35428	0.157000	0.20547	0.0:1.0:0.0:0.0	13.859	0.63048	991	0.01385	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.269832	0.442623	0.240437	0.270270	0.285714	0.236842	0.255725	0.272727	0.4	523.98	19	chr4	189953101	.	C	T	523.98	.	AC=8;AF=0.4;AN=20;BaseQRankSum=-0.414;DP=145;ExcessHet=10.3881;FS=0.939;InbreedingCoeff=-0.6667;MLEAC=8;MLEAF=0.4;MQ=52.97;MQRankSum=-2.362;QD=4.52;ReadPosRankSum=0.851;SOR=0.918	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:15,4:19:99:0|1:189953101_C_T:117,0,533:189953101	2	0	8	0
chr4	189953126	189953126	G	T	splicing	FRG1	NM_004477:exon4:c.317+1G>T	.	.	.	183	1055	284	0	0	284	0.11863	1.0000	0.936	.	794301	CIC-rearranged_sarcoma	MONDO:MONDO:0956989,MedGen:C3899764	no_classification_provided	not_provided	.	.	.	.	.	.	.	.	.	.	.	.	0.0016	0.0032	0.0014	0.0010	0.0009	0.0020	0	0.0006	0.0001153	3	26028	rs770433406	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.281809	0.81469	D	0.167022	0.81231	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.	.;.	5.592813	0.92394	32	0.99300431696382707	0.58613	0.97908	0.78038	D	AEFBI	.	.	.	1.05490941371048	0.97203	15.74775	0.843458885629421	0.92630	11.53725	0.999999998414614	0.74766	0.258101	0.04556	0	0.375	0.05954	0	0.083675	0.02720	0	0.109871	0.03346	0	0.829964	0.49773	3.53	3.53	0.39533	8.827000	0.91663	11.037000	0.85129	0.601000	0.45875	1.000000	0.71638	1.000000	0.68203	0.327000	0.25133	0.0:0.0:1.0:0.0	13.458	0.60660	991	0.01385	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4	503.01	15	chr4	189953126	.	G	T	503.01	.	AC=8;AF=0.4;AN=20;BaseQRankSum=-0.366;DP=136;ExcessHet=10.3881;FS=0;InbreedingCoeff=-0.6672;MLEAC=8;MLEAF=0.4;MQ=52.73;MQRankSum=-2.287;QD=4.57;ReadPosRankSum=0.492;SOR=0.744	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:12,3:15:90:0|1:189953101_C_T:90,0,464:189953101	2	0	8	0
chr4	189957425	189957425	A	G	exonic	FRG1	.	nonsynonymous SNV	FRG1:NM_004477:exon6:c.A460G:p.S154G	.	1	846	675	0	0	675	0.285171	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.185	0.011311376018	.	.	.	.	.	.	.	.	.	.	.	.	.	rs189762674	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.05061	T	1.0	0.03232	T	0.047	0.21998	B	0.081	0.28987	B	0.000000	0.84330	D	0.000000	0.999996	0.58761	D	.	.	.	2.6	0.41750	T	0.43	0.08971	N	0.459	0.49602	-1.0801	0.07330	T	0.058	0.24391	T	10	0.2421839	0.41410	T	0.011311	0.28804	T	0.185	0.45933	0.71	0.84601	0.556105722742	0.55269	0.4529120959340938	0.45209	0.26085393997	0.28643	0.762159407139	0.76251	T	0.040046	0.25396	T	0.00380976	0.52179	T	-0.232304	0.51549	T	0.277109354734421	0.24049	T	.	.	.	0.28638732	0.51655	0.3411275	0.59856	0.28638732	0.51655	0.3411275	0.59855	-6.244	0.48277	T	.	.	0.080	0.07937	B	.;.;.	.;.;.	3.090452	0.41606	21.4	0.25288622774737562	0.01159	0.90585	0.51883	D	AEDGBI	0.513229	0.54111	D	-0.436064510326238	0.24215	1.305949	-0.265167819402356	0.29255	1.637516	0.999920515020144	0.46280	0.706548	0.73137	0	0.724815	0.89359	0	0.644132	0.48003	0	0.683672	0.66515	0	.	.	4.19	4.19	0.48645	5.243000	0.65217	7.387000	0.58489	-0.212000	0.08331	1.000000	0.71638	1.000000	0.68203	0.404000	0.26872	1.0:0.0:0.0:0.0	11.575	0.50111	991	0.01385	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2	458.71	117	chr4	189957425	.	A	G	458.71	.	AC=4;AF=0.2;AN=20;BaseQRankSum=0.074;DP=883;ExcessHet=1.5895;FS=0.781;InbreedingCoeff=-0.2537;MLEAC=4;MLEAF=0.2;MQ=46.42;MQRankSum=-1.461;QD=1.22;ReadPosRankSum=-0.234;SOR=0.874	GT:AD:DP:GQ:PL	0/1:102,15:117:99:120,0,2836	6	0	4	0
chr5	10450015	10450015	C	A	exonic	ROPN1L	.	nonsynonymous SNV	ROPN1L:NM_031916:exon3:c.C319A:p.P107T,ROPN1L:NM_001201466:exon4:c.C319A:p.P107T	.	424	1096	2	0	0	2	0.000911577	.	.	.	2470013	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.415	0.0174519625133	.	.	8.237e-06	0	0	0	0	1.499e-05	0	0	1.29e-05	2	154602	rs754500671	1.095e-05	1.094e-05	1.225e-05	9.628e-06	0.0005	6.48e-06	5.25e-06	0.0001	7.544e-05	0	0	0	0	0	0.0005	5.397e-06	6.624e-05	3.479e-05	6.574e-06	6.567e-06	0	1.346e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.004	0.65419	D	0.009	0.66756	D	1.0	0.90584	D	1.0	0.97372	D	0.000001	0.84330	D	0.055461	1	0.81001	D	3.305	0.90531	M	2.04	0.20808	T	-5.0	0.82341	D	0.849	0.84505	-0.8458	0.52256	T	0.156	0.48704	T	10	0.8679031	0.86043	D	0.017452	0.39153	T	0.415	0.72555	0.621	0.75576	0.450152462452	0.44640	0.5169805806104991	0.51621	0.776489147222	0.65059	0.531082510948	0.43187	T	0.173545	0.52245	T	0.0484929	0.58149	T	-0.0674897	0.65805	T	0.956490159034729	0.64768	D	0.753225	0.37546	T	0.49103764	0.66565	0.35589966	0.61109	0.49103764	0.66566	0.35589966	0.61109	-6.222	0.48101	T	.	.	0.546	0.66635	A	.;.	.;.	4.137197	0.61958	24.4	0.99717049602679519	0.81773	0.97779	0.77072	D	AEFDIJ	0.657795	0.62930	D	0.66209094006564	0.77153	6.620265	0.56875668404686	0.72711	5.853277	0.999999999999057	0.74766	0.554377	0.28877	0	0.547309	0.14657	0	0.514364	0.09456	0	0.567892	0.33627	0	.	.	5.07	5.07	0.68106	6.927000	0.75657	7.561000	0.60481	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.502000	0.29062	0.0:1.0:0.0:0.0	15.735	0.77599	711	0.56613	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.05	389.43	51	chr5	10450015	.	C	A	389.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.33;DP=357;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=7.64;ReadPosRankSum=-0.985;SOR=0.65	GT:AD:DP:GQ:PL	0/1:35,16:51:99:401,0,924	9	0	1	0
chr5	13714458	13714458	G	A	exonic	DNAH5	.	nonsynonymous SNV	DNAH5:NM_001369:exon75:c.C13072T:p.R4358W	Ciliary dyskinesia, primary, 3, with or without situs inversus	1	1520	1	0	0	1	0.000328839	.	.	.	297174	Primary_ciliary_dyskinesia|Primary_ciliary_dyskinesia_3	Human_Phenotype_Ontology:HP:0012265,MONDO:MONDO:0016575,MedGen:C0008780,OMIM:PS244400,Orphanet:244|MONDO:MONDO:0012085,MedGen:C1837618,OMIM:608644,Orphanet:244	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.306	0.0655960523073	.	.	4.126e-05	0	8.637e-05	0.0001	0	4.505e-05	0	0	4.53e-05	7	154602	rs753960777	5.951e-05	5.951e-05	5.173e-05	6.738e-05	0.0002	4.883e-05	4.561e-05	5.422e-05	4.966e-05	2.987e-05	2.236e-05	0	0	0	0.0002	6.655e-05	9.934e-05	4.637e-05	5.259e-05	5.255e-05	5.141e-05	5.383e-05	0.0001	2.558e-05	1.831e-05	4.764e-05	3.339e-05	2.415e-05	0	0	0	0	0	0	0.0001	0	0	0.001	0.78490	D	.	.	.	0.999	0.77913	D	0.978	0.74104	D	0.000000	0.84330	D	0.000000	0.999975	0.53665	D	3.415	0.91848	M	3.04	0.08810	T	-6.7	0.92476	D	0.707	0.71055	-0.9026	0.47717	T	0.088	0.34050	T	10	0.83769476	0.82924	D	0.065596	0.69625	D	0.306	0.62729	.	.	0.523910806359	0.52036	0.7036889131026518	0.70309	0.449518881182	0.44739	0.475227475166	0.35401	T	0.450498	0.79159	T	-0.057763	0.43257	T	-0.140453	0.60079	T	0.975361704826355	0.70902	D	0.981902	0.93870	D	0.8845199	0.90043	0.8228662	0.89723	0.8845199	0.90044	0.8228662	0.89723	-11.747	0.83597	D	0.3085897326485154	0.40638	0.308	0.53641	B	.	.	3.191918	0.43374	21.7	0.99885100660851744	0.96049	0.75666	0.37059	D	AEFDGCI	0.665900	0.63455	D	0.356659235019558	0.59092	4.085905	0.177745502528895	0.48630	3.076365	0.992073146343239	0.32709	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.567339	0.31927	0	.	.	5.22	0.499	0.16119	1.639000	0.36791	5.364000	0.48408	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.170000	0.20979	0.0:0.0:0.4131:0.5869	15.096	0.71903	812	0.42537	Dynein heavy chain domain	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	782.43	47	chr5	13714458	.	G	A	782.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.05;DP=393;ExcessHet=0;FS=2.5;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=16.65;ReadPosRankSum=-1.413;SOR=0.409	GT:AD:DP:GQ:PL	0/1:21,26:47:99:794,0,508	9	0	1	0
chr5	42688922	42688922	C	T	exonic	GHR	.	nonsynonymous SNV	GHR:NM_001242460:exon2:c.C103T:p.R35C,GHR:NM_001242406:exon3:c.C169T:p.R57C,GHR:NM_001242462:exon3:c.C169T:p.R57C,GHR:NM_000163:exon4:c.C169T:p.R57C,GHR:NM_001242399:exon4:c.C190T:p.R64C,GHR:NM_001242402:exon4:c.C169T:p.R57C,GHR:NM_001242403:exon4:c.C169T:p.R57C,GHR:NM_001242404:exon4:c.C169T:p.R57C,GHR:NM_001242405:exon4:c.C169T:p.R57C,GHR:NM_001242400:exon5:c.C169T:p.R57C,GHR:NM_001242401:exon5:c.C169T:p.R57C	Growth hormone insensitivity, partial;Increased responsiveness to growth hormone (3);Laron dwarfism, Autosomal recessive	.	.	.	.	.	.	.	.	.	YES	894396	Laron-type_isolated_somatotropin_defect	MONDO:MONDO:0009877,MedGen:C0271568,OMIM:262500,Orphanet:633	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.694	0.316874160296	.	0.000199681	8.238e-06	0	8.651e-05	0	0	0	0	0	1.29e-05	2	154602	rs200503849	1.163e-05	1.163e-05	9.533e-06	1.376e-05	2.236e-05	7.09e-06	5.79e-06	7.31e-06	5.72e-06	0	2.236e-05	0	0	0	0	1.26e-05	1.656e-05	1.16e-05	1.314e-05	1.312e-05	2.57e-05	0	0.0002	2.18e-06	8.2e-07	.	.	0	0	0	0	0.0002	0	0	1.47e-05	0	0	0.0	0.91255	D	0.105	0.43913	T	1.0	0.90584	D	1.0	0.97372	D	0.000136	0.49741	D	0.169693	1	0.81001	D	3.24	0.89678	M	-1.87	0.84415	D	-2.4	0.52776	N	0.86	0.86297	0.719	0.93406	D	0.792	0.92949	D	10	0.84537435	0.83701	D	0.316874	0.91356	D	0.694	0.88913	.	.	0.971267218976	0.97095	0.8464529657341133	0.84606	0.362600631993	0.37909	0.492148011923	0.37736	T	0.803419	0.95012	D	0.325875	0.84883	D	0.313185	0.88797	D	0.985465526580811	0.76450	D	0.983102	0.94254	D	0.8132915	0.84771	0.5228937	0.72436	0.8132915	0.84773	0.5228937	0.72436	-9.579	0.73648	D	0.8336555865222529	0.90389	0.739	0.80528	P	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	5.522595	0.91795	32	0.99933260535526991	0.99488	0.81940	0.41247	D	AEFI	0.646892	0.62227	D	0.83281835715914	0.88108	9.456632	0.777819277490703	0.88212	9.498413	0.998707044980081	0.37498	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.66	5.66	0.87293	3.548000	0.53423	7.655000	0.63911	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.990000	0.65344	0.1407:0.8593:0.0:0.0	15.285	0.73520	545	0.72614	Growth hormone/erythropoietin receptor, ligand binding;Growth hormone/erythropoietin receptor, ligand binding;Growth hormone/erythropoietin receptor, ligand binding;Growth hormone/erythropoietin receptor, ligand binding;Growth hormone/erythropoietin receptor, ligand binding;Growth hormone/erythropoietin receptor, ligand binding;Growth hormone/erythropoietin receptor, ligand binding;.;Growth hormone/erythropoietin receptor, ligand binding	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1310.43	102	chr5	42688922	.	C	T	1310.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.516;DP=424;ExcessHet=0;FS=1.612;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.85;ReadPosRankSum=-0.819;SOR=0.516	GT:AD:DP:GQ:PL	0/1:47,55:102:99:1322,0,1238	9	0	1	0
chr5	64754350	64754350	T	C	exonic	SREK1IP1	.	nonsynonymous SNV	SREK1IP1:NM_173829:exon2:c.A26G:p.D9G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.202	0.00777017731107	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.033	0.44358	D	0.009	0.66756	D	0.997	0.70673	D	0.994	0.82059	D	0.000000	0.84330	D	0.000000	0.999991	0.58761	D	1.67	0.42885	L	.	.	.	-5.16	0.83422	D	0.814	0.80964	-0.5662	0.66166	T	0.272	0.64360	T	9	0.6795159	0.71195	D	0.00777	0.20616	T	0.202	0.48754	0.262	0.20631	0.23798241625	0.23396	0.3775544890225989	0.37670	0.666548983245	0.59207	0.727358996868	0.71121	T	0.173695	0.52265	T	0.186097	0.72603	D	0.0295397	0.72248	D	0.994544386863708	0.85897	D	0.872113	0.57861	D	0.5262522	0.68617	0.47772655	0.69744	0.5262522	0.68618	0.47772655	0.69744	-11.819	0.83958	D	.	.	0.821	0.78270	P	.	.	5.048900	0.84086	28.2	0.99783674794127952	0.87043	0.88904	0.49062	D	AEFBI	0.414667	0.48384	N	0.548394298695238	0.69985	5.43544	0.560494673895224	0.72129	5.761656	0.999815966530471	0.43459	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.727631	0.95156	0	.	.	5.33	5.33	0.75683	3.493000	0.53029	7.799000	0.69096	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:0.0:1.0	11.963	0.52307	595	0.68488	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	2274.43	144	chr5	64754350	.	T	C	2274.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.682;DP=456;ExcessHet=0;FS=0.644;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=15.79;ReadPosRankSum=-0.241;SOR=0.773	GT:AD:DP:GQ:PL	0/1:52,92:144:99:2286,0,1046	9	0	1	0
chr5	69414206	69414206	C	-	exonic	RAD17	.	frameshift deletion	RAD17:NM_133339:exon16:c.1960delC:p.P654Lfs*18,RAD17:NM_133340:exon16:c.1432delC:p.P478Lfs*18,RAD17:NM_133341:exon16:c.1669delC:p.P557Lfs*18,RAD17:NM_002873:exon17:c.1927delC:p.P643Lfs*18,RAD17:NM_133344:exon17:c.1927delC:p.P643Lfs*18,RAD17:NM_001278622:exon18:c.1927delC:p.P643Lfs*18,RAD17:NM_133342:exon18:c.1927delC:p.P643Lfs*18,RAD17:NM_133343:exon18:c.1927delC:p.P643Lfs*18,RAD17:NM_133338:exon19:c.1927delC:p.P643Lfs*18	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.648e-05	0	0	0	0	0	0	0.0001	1.29e-05	2	154602	rs767218047	2.736e-06	2.736e-06	1.361e-06	4.125e-06	3.478e-05	6.4e-07	4.3e-07	9.24e-06	4.56e-06	0	0	0	0	0	0	0	1.656e-05	3.478e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	1281.39	93	chr5	69414205	.	GC	G	1281.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.379;DP=404;ExcessHet=0;FS=1.705;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.78;ReadPosRankSum=-2.475;SOR=0.909	GT:AD:DP:GQ:PL	0/1:51,42:93:99:1293,0,1614	9	0	1	0
chr5	71510931	71510931	C	G	exonic	BDP1	.	nonsynonymous SNV	BDP1:NM_018429:exon17:c.C3839G:p.A1280G	.	9	1512	1	0	0	1	0.000330579	.	.	.	1171443	not_provided|not_specified|BDP1-related_disorder	MedGen:C3661900|MedGen:CN169374|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.014	.	.	0.00599042	0.0024	0	0.0003	0	0	1.504e-05	0.0022	0.0168	0.002128	329	154602	rs555865529	0.0011	0.0011	0.0006	0.0015	0.0173	0.0010	0.0010	0.0166	0.0163	2.987e-05	2.236e-05	0	5.039e-05	0	0.0002	5.396e-06	0.0012	0.0173	0.0006	0.0006	0.0003	0.0009	0.0183	0.0005	0.0005	0.0152	0.0140	0	0	0	0	0.0004	0	0	1.471e-05	0.0005	0.0183	0.206	0.19927	T	0.314	0.19480	T	0.0	0.02946	B	0.001	0.04355	B	0.896809	0.07330	N	1.072970	1	0.08975	N	1.43	0.35840	L	2.74	0.11730	T	-1.52	0.36980	N	0.094	0.07398	-0.9418	0.42330	T	0.022	0.09284	T	10	0.0031118393	0.00052	T	.	.	.	0.014	0.01968	.	.	0.0297737177859	0.01360	0.03286924212736813	0.03234	0.037982840304	0.04033	0.217150896788	0.01152	T	0.006974	0.06393	T	-0.712906	0.00031	T	-0.783191	0.02359	T	0.00989748419030052	0.00131	T	0.564843	0.19943	T	0.031014297	0.02865	0.05066168	0.07996	0.031014297	0.02864	0.05066168	0.07995	-6.058	0.46762	T	.	.	0.122	0.25396	B	.	.	0.908746	0.12830	9.344	0.76096198517447533	0.11332	0.06549	0.12562	N	AEFBI	0.038888	0.05569	N	-1.08793344467192	0.06864	0.3172266	-1.14343831158023	0.06886	0.3330235	0.03826123898675	0.14339	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	3.57	0.596	0.16678	-0.489000	0.06570	-0.339000	0.09830	0.549000	0.26987	0.000000	0.06391	0.000000	0.08366	0.398000	0.26737	0.202:0.4609:0.2154:0.1216	1.859	0.02992	440	0.80101	.	.	.	.	.	.	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	0.001007	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.007576	0.05	1161.43	104	chr5	71510931	.	C	G	1161.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.364;DP=693;ExcessHet=0;FS=2.597;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.17;ReadPosRankSum=-1.832;SOR=1.005	GT:AD:DP:GQ:PL	0/1:62,42:104:99:1173,0,1813	9	0	1	0
chr5	72195955	72195955	T	G	exonic	MAP1B	.	nonsynonymous SNV	MAP1B:NM_001324255:exon4:c.T2222G:p.L741R,MAP1B:NM_005909:exon5:c.T2600G:p.L867R	.	414	1105	3	0	0	3	0.00135563	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.036	.	0.0005	0.00239617	0.0039	0	8.648e-05	0	0.0337	0.0031	0.0089	0.0021	0.0031824	492	154602	rs150896759	0.0018	0.0018	0.0018	0.0019	0.0020	0.0018	0.0018	0.0017	0.0016	2.987e-05	0	0	0	0.0320	0.0005	0.0006	0.0023	0.0020	0.0027	0.0027	0.0015	0.0040	0.0025	0.0025	0.0024	0.0014	0.0011	0	0	0	0	0	0.0315	0	0.0009	0.0014	0.0025	0.06	0.37326	T	0.601	0.07919	T	0.001	0.07471	B	0.001	0.04355	B	0.646174	0.10555	N	0.807089	1	0.08975	N	1.01	0.25309	L	3.82	0.03728	T	0.06	0.06253	N	0.178	0.19190	-0.9320	0.43844	T	0.005	0.01725	T	10	0.0030899346	0.00051	T	.	.	.	0.036	0.09122	.	.	0.123314135267	0.11883	0.2455701542903947	0.24471	0.35949799997	0.37640	0.393882393837	0.24215	T	0.084587	0.37310	T	-0.611001	0.00125	T	-0.65191	0.08822	T	0.00754195454240761	0.00087	T	0.563244	0.19836	T	0.04972647	0.08875	0.08025861	0.18140	0.07822351	0.17800	0.09539694	0.22622	-5.875	0.45221	T	.	.	0.074	0.05145	B	.	.	2.326007	0.29792	18.23	0.76038224825349299	0.11309	0.33183	0.24767	N	AEFBI	0.280408	0.39423	N	-1.20215719447256	0.04969	0.2254256	-1.22567146967473	0.05500	0.2622422	0.999714369878038	0.42101	0.706548	0.73137	0	0.596491	0.49125	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.34	-1.87	0.07317	0.849000	0.27375	0.178000	0.15598	-0.236000	0.07595	0.002000	0.15269	0.892000	0.27844	0.049000	0.15107	0.1193:0.0668:0.3719:0.442	4.231	0.10058	234	0.90879	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	2115.43	164	chr5	72195955	.	T	G	2115.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-3.113;DP=551;ExcessHet=0;FS=1.944;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.9;ReadPosRankSum=1.07;SOR=0.847	GT:AD:DP:GQ:PL	0/1:79,85:164:99:2127,0,2225	9	0	1	0
chr5	72199873	72199873	C	T	exonic	MAP1B	.	nonsynonymous SNV	MAP1B:NM_001324255:exon4:c.C6140T:p.T2047M,MAP1B:NM_005909:exon5:c.C6518T:p.T2173M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.339	0.0602331980359	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.052e-06	2.052e-06	2.722e-06	1.375e-06	1.159e-05	5.5e-07	1.5e-07	.	.	0	0	0	0	0	0	8.993e-07	1.656e-05	1.159e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.0	0.92824	D	1.0	0.90584	D	0.998	0.88582	D	0.000003	0.62929	D	0.000000	0.999995	0.58761	D	2.75	0.80375	M	2.87	0.10386	T	-4.45	0.77717	D	0.694	0.69913	-1.0741	0.08535	T	0.103	0.38069	T	10	0.7273006	0.74060	D	0.060233	0.67932	D	0.339	0.66106	0.296	0.26041	0.516939936371	0.51336	0.40096626666677315	0.40011	0.887394481255	0.70061	0.833328962326	0.87074	D	0.482487	0.81061	T	0.103266	0.64643	D	-0.0894422	0.64203	T	0.99288672208786	0.83488	D	0.977902	0.92154	D	0.28530714	0.51552	0.42683366	0.66447	0.28530714	0.51552	0.42683366	0.66447	-5.002	0.36861	T	.	.	0.826	0.78551	P	.	.	4.669687	0.74619	26.2	0.99807547953580389	0.89174	0.96240	0.68181	D	AEFBCI	0.916023	0.88162	D	0.906990263146559	0.92099	11.23203	0.889474668067767	0.95096	13.30891	1.0	0.98316	0.732398	0.92422	0	0.59043	0.45803	0	0.743671	0.96076	0	0.741806	0.99463	0	.	.	5.82	5.82	0.92740	7.905000	0.86479	7.735000	0.67855	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.981000	0.58702	0.0:1.0:0.0:0.0	20.095	0.97838	234	0.90879	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	3146.43	228	chr5	72199873	.	C	T	3146.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.46;DP=587;ExcessHet=0;FS=7.252;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.8;ReadPosRankSum=-0.92;SOR=0.703	GT:AD:DP:GQ:PL	0/1:109,119:228:99:3158,0,2692	9	0	1	0
chr5	75118147	75118147	C	T	exonic	ANKRD31	.	nonsynonymous SNV	ANKRD31:NM_001164443:exon17:c.G3856A:p.A1286T,ANKRD31:NM_001372053:exon18:c.G4027A:p.A1343T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	60.43	171	chr5	75118147	.	C	T	60.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-3.748;DP=682;ExcessHet=0;FS=63.647;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=0.35;ReadPosRankSum=1.74;SOR=6.184	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:150,21:171:72:0|1:75118147_C_T:72,0,5197:75118147	9	0	1	0
chr5	75146001	75146001	A	G	exonic	ANKRD31	.	nonsynonymous SNV	ANKRD31:NM_001164443:exon14:c.T3410C:p.I1137T,ANKRD31:NM_001372053:exon14:c.T3410C:p.I1137T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.208	0.0320185438598	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.067e-06	5.908e-05	3.014e-06	3.121e-06	3.869e-06	7.2e-07	4.8e-07	9.1e-07	6.1e-07	0	0	0	0	0	0	3.869e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.075	0.34444	T	0.08	0.76473	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	1.705	0.44259	L	0.06	0.61798	T	0.5	0.02945	N	0.144	0.33904	-0.9725	0.36670	T	0.133	0.44622	T	7	0.07310486	0.11001	T	0.032019	0.53954	D	0.208	0.49714	0.399	0.42753	0.0666544352282	0.05500	0.1179940654002401	0.11726	.	.	0.431646108627	0.29434	T	6.79E-4	0.00299	T	-0.0895452	0.38151	T	-0.366402	0.37308	T	0.0622141301128149	0.07513	T	0.622038	0.23930	T	0.046649564	0.07844	0.065477386	0.13277	0.046649564	0.07844	0.065477386	0.13277	-3.908	0.22423	T	.	.	0.159	0.35204	B	.;.	.;.	-0.613964	0.01534	0.099	0.95776924258942753	0.27794	0.03341	0.08421	N	AEFI	0.072667	0.14510	N	-0.919827703521214	0.10379	0.4956785	-1.06350639893966	0.08427	0.4143377	9.32791732047118E-5	0.04910	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.14	-2.42	0.06164	-1.019000	0.03733	-0.266000	0.10387	-0.113000	0.14837	0.000000	0.06391	0.000000	0.08366	0.627000	0.32078	0.406:0.1456:0.1685:0.28	0.344	0.00315	845	0.36510	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.25	338.25	123	chr5	75146001	.	A	G	338.25	.	AC=5;AF=0.25;AN=20;BaseQRankSum=-2.389;DP=800;ExcessHet=2.8389;FS=86.742;InbreedingCoeff=-0.316;MLEAC=4;MLEAF=0.2;MQ=60;MQRankSum=0;QD=0.77;ReadPosRankSum=1.96;SOR=9.297	GT:AD:DP:GQ:PL	0/1:94,29:123:99:146,0,1916	5	0	5	0
chr5	75702676	75702676	C	T	exonic	POC5	.	nonsynonymous SNV	POC5:NM_152408:exon4:c.G367A:p.D123N,POC5:NM_001099271:exon5:c.G442A:p.D148N	.	436	1085	1	0	0	1	0.000460617	.	.	.	1520611	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.118	0.0214846013023	0.0004	0.000199681	0.0003	0	0	0.0009	0	0.0004	0	0.0002	0.0001876	29	154602	rs200926172	0.0002	0.0002	0.0002	0.0001	0.0007	0.0001	0.0001	0.0004	0.0003	0	4.494e-05	0.0026	0.0006	0	0.0007	7.65e-05	0.0004	0.0002	0.0002	0.0002	0.0001	0.0002	0.0004	0.0001	9.232e-05	7.29e-05	5.088e-05	0	0	0	0.0029	0.0004	0	0	0.0001	0.0005	0.0004	0.018	0.91255	D	0.01	0.67890	D	0.145	0.39250	B	0.016	0.27432	B	0.000114	0.50451	N	0.232228	0.976198	0.25389	N	1.79	0.46772	L	1.82	0.51228	T	-1.73	0.79316	N	0.09	0.10483	-0.9704	0.37115	T	0.112	0.40168	T	10	0.013289034	0.00282	T	0.021485	0.44265	T	0.118	0.32913	.	.	0.654029547454	0.65114	0.31530997786085874	0.31443	0.362347261867	0.37892	0.356939077377	0.18939	T	0.011832	0.24916	T	-0.548857	0.00296	T	-0.611613	0.11854	T	0.0482356310021544	0.05185	T	0.79772	0.46890	T	0.10876508	0.25717	0.12701267	0.30581	0.10876508	0.25716	0.12701267	0.30580	-4.942	0.47890	T	.	.	0.090	0.23570	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	2.138970	0.27237	17.39	0.99014420286627269	0.50441	0.93705	0.58956	D	AEFBI	0.211566	0.33734	N	-0.279219834143755	0.29952	1.665616	-0.275246820103323	0.28915	1.615996	0.997745849247702	0.35977	0.566229	0.32551	0	0.615513	0.52658	0	0.608884	0.39905	0	0.635551	0.53088	0	.	.	5.65	3.88	0.43959	3.241000	0.51074	3.892000	0.40300	0.599000	0.40250	0.993000	0.37899	0.999000	0.35428	0.218000	0.22407	0.0:0.8608:0.0:0.1392	11.985	0.52432	957	0.09725	.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.001511	0.000000	0.000000	0.005848	0.000000	0.000000	0.003049	0.000000	0.05	1002.43	102	chr5	75702676	.	C	T	1002.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.77;DP=443;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.83;ReadPosRankSum=-0.341;SOR=0.714	GT:AD:DP:GQ:PL	0/1:63,39:102:99:1014,0,1502	9	0	1	0
chr5	75702781	75702781	G	A	exonic	POC5	.	nonsynonymous SNV	POC5:NM_152408:exon4:c.C262T:p.P88S,POC5:NM_001099271:exon5:c.C337T:p.P113S	.	432	1060	28	2	0	32	0.0148699	.	.	.	1600307	not_provided|Retinal_dystrophy|Optic_atrophy	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|Human_Phenotype_Ontology:HP:0000648,Human_Phenotype_Ontology:HP:0007751,Human_Phenotype_Ontology:HP:0007855,MONDO:MONDO:0003608,MedGen:C0029124	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.037	.	0.0026	0.0101837	0.0130	0.0002	0.0092	0.0409	0.0337	0.0084	0.0212	0.0163	0.0067011	1036	154602	rs79392300	0.0058	0.0058	0.0054	0.0061	0.0172	0.0057	0.0056	0.0161	0.0157	0.0008	0.0046	0.0113	0.0172	0.0226	0.0148	0.0039	0.0083	0.0140	0.0060	0.0060	0.0048	0.0073	0.0237	0.0057	0.0056	0.0203	0.0190	0.0010	0.0011	0.0041	0.0150	0.0237	0.0244	0.0204	0.0041	0.0109	0.0139	0.368	0.11623	T	0.658	0.13993	T	0.008	0.14655	B	0.012	0.16012	B	0.387173	0.13307	N	0.754894	0.98446	0.40149	D	2.135	0.59519	M	1.98	0.28604	T	-0.61	0.23808	N	0.056	0.03613	-1.0156	0.25143	T	0.021	0.09009	T	10	0.0016588569	0.00020	T	.	.	.	0.037	0.09474	.	.	0.0986583533028	0.09354	0.5153100026487207	0.51453	0.062071779075	0.06909	0.241766959429	0.02951	T	7.75E-4	0.14314	T	-0.648449	0.00074	T	-0.683279	0.06785	T	0.00539200280690588	0.00058	T	0.665433	0.28129	T	0.01881412	0.00405	0.02529857	0.00570	0.01881412	0.00404	0.02529857	0.00570	-2.72	0.07472	T	.	.	0.087	0.14062	B	.;.;.	.;.;.	0.863859	0.12365	8.902	0.26308428443095727	0.01254	0.11070	0.16387	N	AEFBI	0.050338	0.08788	N	-1.53072416774126	0.01651	0.07220092	-1.48750863070593	0.02446	0.1125266	0.698364834324272	0.22667	0.719381	0.83141	0	0.723133	0.82719	0	0.608884	0.39905	0	0.714379	0.83352	0	.	.	5.65	-0.667	0.10823	0.094000	0.14946	0.505000	0.19029	-0.110000	0.15115	0.061000	0.21800	0.333000	0.24383	0.350000	0.25659	0.2301:0.1778:0.4138:0.1783	1.892	0.03053	957	0.09725	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	0.009073	0.015152	0.001359	0.014620	0.000000	0.008772	0.006098	0.018939	0.05	456.43	58	chr5	75702781	.	G	A	456.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.27;DP=380;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=7.87;ReadPosRankSum=0.151;SOR=0.758	GT:AD:DP:GQ:PL	0/1:40,18:58:99:468,0,1200	9	0	1	0
chr5	80513649	80513649	G	A	exonic	FAM151B	.	nonsynonymous SNV	FAM151B:NM_205548:exon3:c.G197A:p.G66E	.	426	1089	7	0	0	7	0.00320366	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.024	0.00543392758171	0.0005	0.000599042	0.0004	0	0.0003	0	0	0.0006	0	0	0.0003816	59	154602	rs139629089	0.0003	0.0003	0.0003	0.0003	0.0017	0.0003	0.0003	0.0009	0.0008	0.0001	0.0011	0.0008	0	0	0.0017	0.0003	0.0006	5.797e-05	0.0005	0.0005	0.0004	0.0005	0.0027	0.0004	0.0004	0.0020	0.0018	2.407e-05	0	0.0027	0.0014	0	0	0.0034	0.0003	0.0005	0.0002	0.069	0.35537	T	0.281	0.21612	T	0.039	0.21116	B	0.028	0.21332	B	0.007237	0.31521	N	0.386077	0.911755	0.27491	N	0.775	0.19437	N	2.81	0.10975	T	-2.48	0.54059	N	0.163	0.17140	-1.0216	0.23195	T	0.013	0.05129	T	10	0.0083349645	0.00189	T	0.005434	0.13954	T	0.024	0.04979	.	.	0.0666544352282	0.05500	0.4701767454435021	0.46936	0.146686632738	0.16557	0.286569654942	0.08425	T	0.010352	0.09352	T	-0.612015	0.00123	T	-0.744629	0.03699	T	0.0114656052533619	0.00172	T	0.628437	0.24364	T	0.10101609	0.23857	0.11229566	0.27095	0.10101609	0.23857	0.11229566	0.27094	-5.62	0.42975	T	.	.	0.079	0.07318	B	.	.	2.012169	0.25571	16.81	0.82911332837642193	0.14441	0.28403	0.23544	N	AEFBI	0.058793	0.11057	N	-0.833801359502692	0.12453	0.6070645	-0.790363201224241	0.14731	0.7712563	0.00275098546584675	0.09676	0.638212	0.43195	0	0.588066	0.40923	0	0.653264	0.51672	0	0.668105	0.65232	0	.	.	6.04	1.76	0.23776	0.776000	0.26365	3.709000	0.39550	-0.153000	0.12021	0.010000	0.18352	1.000000	0.68203	0.316000	0.24877	0.2876:0.1487:0.5637:0.0	5.531	0.16271	769	0.49307	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	1387.43	96	chr5	80513649	.	G	A	1387.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.61;DP=407;ExcessHet=0;FS=1.659;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.45;ReadPosRankSum=-0.421;SOR=0.888	GT:AD:DP:GQ:PL	0/1:42,54:96:99:1399,0,924	9	0	1	0
chr5	96737924	96737924	A	G	exonic	CAST	.	nonsynonymous SNV	CAST:NM_001284213:exon6:c.A310G:p.T104A,CAST:NM_001042444:exon7:c.A403G:p.T135A,CAST:NM_001042446:exon7:c.A403G:p.T135A,CAST:NM_001284212:exon7:c.A403G:p.T135A,CAST:NM_001330630:exon7:c.A403G:p.T135A,CAST:NM_001042445:exon8:c.A460G:p.T154A,CAST:NM_001330632:exon8:c.A460G:p.T154A,CAST:NM_001330633:exon8:c.A469G:p.T157A,CAST:NM_001330634:exon8:c.A469G:p.T157A,CAST:NM_173060:exon8:c.A460G:p.T154A,CAST:NM_001042440:exon9:c.A652G:p.T218A,CAST:NM_001042443:exon9:c.A526G:p.T176A,CAST:NM_001330627:exon9:c.A652G:p.T218A,CAST:NM_001330628:exon9:c.A607G:p.T203A,CAST:NM_001330631:exon9:c.A526G:p.T176A,CAST:NM_001042441:exon10:c.A718G:p.T240A,CAST:NM_001042442:exon10:c.A709G:p.T237A,CAST:NM_001330626:exon10:c.A718G:p.T240A,CAST:NM_001375317:exon10:c.A664G:p.T222A,CAST:NM_001190442:exon11:c.A526G:p.T176A,CAST:NM_001330629:exon11:c.A730G:p.T244A,CAST:NM_001750:exon11:c.A775G:p.T259A	Peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads, Autosomal recessive	417	1101	4	0	0	4	0.00181324	.	.	.	1537755	CAST-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.026	.	.	0.00658946	0.0040	0	0.0031	0	0	7.505e-05	0.0022	0.0266	0.0034928	540	154602	rs542940545	0.0017	0.0017	0.0010	0.0024	0.0252	0.0016	0.0016	0.0243	0.0239	3.016e-05	0.0016	0.0008	7.573e-05	0	0.0009	2.459e-05	0.0022	0.0252	0.0011	0.0011	0.0005	0.0016	0.0319	0.0009	0.0009	0.0278	0.0262	2.405e-05	0	0.0003	0.0003	0	0	0	1.47e-05	0	0.0319	0.579	0.09346	T	0.861	0.08448	T	0.004	0.36182	B	0.009	0.36707	B	0.199788	0.03311	N	1.563230	1	0.08975	N	0.355	0.11969	N	2.34	0.16351	T	-1.49	0.36385	N	0.085	0.09914	-1.0615	0.11385	T	0.023	0.09923	T	10	0.0031082034	0.00052	T	.	.	.	0.026	0.05648	0.294	0.25720	0.141422826196	0.13715	0.08042089954986069	0.07977	0.0311329674727	0.03224	0.247636184096	0.03522	T	0.028679	0.31314	T	-0.658912	0.00064	T	-0.698308	0.05918	T	0.0204925058802202	0.00749	T	0.725427	0.35027	T	0.015044664	0.00119	0.020602386	0.00145	0.019591624	0.00492	0.021626402	0.00208	-3.456	0.16417	T	.	.	0.064	0.02578	B	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	-1.825232	0.00149	0.002	0.8066098994559765	0.13309	0.00994	0.03770	N	AEFBI	0.102398	0.20542	N	-1.6653848409885	0.00972	0.0421181	-1.81221146706204	0.00721	0.03212257	0.999999999935394	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.4	-10.8	0.00171	-2.969000	0.00733	-4.102000	0.02341	-0.679000	0.04243	0.000000	0.06391	0.000000	0.08366	0.026000	0.12556	0.1757:0.4312:0.3931:0.0	11.116	0.47481	897	0.25382	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	0.001511	0.000000	0.000000	0.002924	0.000000	0.000000	0.003049	0.000000	0.05	342.43	38	chr5	96737924	.	A	G	342.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.533;DP=348;ExcessHet=0;FS=4.846;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.01;ReadPosRankSum=0.121;SOR=1.256	GT:AD:DP:GQ:PL	0/1:24,14:38:99:354,0,729	9	0	1	0
chr5	96741272	96741272	A	C	exonic	CAST	.	nonsynonymous SNV	CAST:NM_001042446:exon9:c.A514C:p.I172L,CAST:NM_001284213:exon9:c.A460C:p.I154L,CAST:NM_001330630:exon9:c.A514C:p.I172L,CAST:NM_001042444:exon10:c.A553C:p.I185L,CAST:NM_001042445:exon10:c.A571C:p.I191L,CAST:NM_001284212:exon10:c.A553C:p.I185L,CAST:NM_001330634:exon10:c.A580C:p.I194L,CAST:NM_001330631:exon11:c.A637C:p.I213L,CAST:NM_001330632:exon11:c.A610C:p.I204L,CAST:NM_001330633:exon11:c.A619C:p.I207L,CAST:NM_173060:exon11:c.A610C:p.I204L,CAST:NM_001042440:exon12:c.A802C:p.I268L,CAST:NM_001042443:exon12:c.A676C:p.I226L,CAST:NM_001330626:exon12:c.A829C:p.I277L,CAST:NM_001330627:exon12:c.A802C:p.I268L,CAST:NM_001330628:exon12:c.A757C:p.I253L,CAST:NM_001042441:exon13:c.A868C:p.I290L,CAST:NM_001042442:exon13:c.A859C:p.I287L,CAST:NM_001190442:exon13:c.A637C:p.I213L,CAST:NM_001330629:exon13:c.A841C:p.I281L,CAST:NM_001375317:exon13:c.A814C:p.I272L,CAST:NM_001750:exon14:c.A925C:p.I309L	Peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads, Autosomal recessive	420	1098	4	0	0	4	0.00181818	.	.	.	1591199	CAST-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.081	.	0.0020	0.0153754	0.0102	0.0061	0.0540	0.0108	0	0.0001	0.0067	0.0271	0.0092302	1427	154602	rs140434940	0.0035	0.0035	0.0031	0.0039	0.0462	0.0034	0.0034	0.0446	0.0439	0.0050	0.0462	0.0008	0.0080	0	0.0014	2.715e-05	0.0045	0.0256	0.0050	0.0051	0.0046	0.0056	0.0325	0.0048	0.0046	0.0284	0.0268	0.0052	0	0.0203	0.0003	0.0127	0	0	7.349e-05	0.0057	0.0325	0.486	0.11882	T	0.602	0.16668	T	0.0	0.02946	B	0.0	0.04355	B	0.004165	0.34034	N	0.392960	0.999998	0.08975	N	-0.895	0.01383	N	2.36	0.39223	T	0.37	0.03955	N	0.231	0.30004	-1.0195	0.23877	T	0.009	0.03227	T	10	0.001888305	0.00026	T	.	.	.	0.081	0.23632	0.141	0.04462	.	.	0.034622143333168175	0.03410	0.0312736387666	0.03243	0.304229348898	0.11035	T	0.002935	0.38927	T	-0.513134	0.00482	T	-0.474087	0.25077	T	0.00489081173144148	0.00053	T	0.0925907	0.22604	T	0.03689018	0.04625	0.023089813	0.00324	0.041657526	0.06174	0.023089813	0.00324	-2.41	0.05195	T	.	.	0.051	0.00397	B	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	0.943847	0.13196	9.697	0.9026587986165826	0.19535	0.64689	0.32489	D	AEFBI	0.126058	0.24284	N	-0.796009059219867	0.13414	0.6606145	-0.562250489771081	0.20481	1.103649	0.999464524435055	0.39843	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	6.17	1.03	0.19161	0.757000	0.26098	0.516000	0.19122	-0.040000	0.17491	0.806000	0.29799	0.002000	0.18203	0.814000	0.38357	0.5326:0.2769:0.0701:0.1204	3.542	0.07370	897	0.25382	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	0.002518	0.000000	0.000000	0.005848	0.000000	0.000000	0.003049	0.003788	0.05	639.43	52	chr5	96741272	.	A	C	639.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.166;DP=358;ExcessHet=0;FS=2.577;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.3;ReadPosRankSum=1.12;SOR=0.32	GT:AD:DP:GQ:PL	0/1:29,23:52:99:651,0,957	9	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	140.39	138	chr5	116015368	.	T	TATATATATATATATGGAACTAAGACTATTACTTTGGAAAAGACCTG	140.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.35;DP=594;ExcessHet=0;FS=27.602;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=1.02;ReadPosRankSum=-2.601;SOR=3.885	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:125,13:138:99:0|1:116015368_T_TATATATATATATATGGAACTAAGACTATTACTTTGGAAAAGACCTG:152,0,5183:116015368	9	0	1	0
chr5	116015370	116015370	-	TCACAGATGCTGGCTA	exonic	LVRN	.	stopgain	LVRN:NM_173800:exon17:c.2569_2570insTCACAGATGCTGGCTA:p.Q857Lfs*6	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001	0.0001	9.94e-05	0	0	0.0002	0	0	3.84e-05	1	26028	rs749164698	4.499e-06	0.0004	4.446e-06	4.552e-06	1.409e-05	1.62e-06	1.06e-06	.	.	0	0	0	0	9.164e-05	0	0	1.798e-05	1.409e-05	7.727e-06	0.0006	1.498e-05	0	.	0	0	.	.	0	0	0	0	0	0.0001	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05556	143.01	138	chr5	116015370	.	C	CTCACAGATGCTGGCTA	143.01	.	AC=1;AF=0.056;AN=18;BaseQRankSum=1.54;DP=663;ExcessHet=0;FS=27.602;InbreedingCoeff=-0.0811;MLEAC=1;MLEAF=0.056;MQ=60;MQRankSum=0;QD=1.04;ReadPosRankSum=-2.266;SOR=3.885	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:125,13:138:99:0|1:116015368_T_TATATATATATATATGGAACTAAGACTATTACTTTGGAAAAGACCTG:154,0,5181:116015368	8	0	1	1
chr5	119134101	119134101	C	T	exonic	DMXL1	.	nonsynonymous SNV	DMXL1:NM_001290321:exon12:c.C2177T:p.A726V,DMXL1:NM_001290322:exon12:c.C1658T:p.A553V,DMXL1:NM_005509:exon12:c.C2177T:p.A726V,DMXL1:NM_001349239:exon13:c.C2177T:p.A726V,DMXL1:NM_001349240:exon13:c.C2177T:p.A726V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.500	0.14605528956	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1312697686	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	.	.	.	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.065	0.87014	M	0.94	0.43672	T	-3.78	0.71519	D	0.89	0.90251	-0.5095	0.68305	T	0.301	0.67176	T	9	0.77610016	0.77471	D	0.146055	0.82820	D	0.500	0.78350	0.357	0.35897	0.379559396232	0.37572	0.8436559584663397	0.84326	0.363131982536	0.37948	0.868579685688	0.92364	D	0.272763	0.76941	T	0.216773	0.75470	D	0.0736025	0.75151	D	0.996248662471771	0.88951	D	0.988501	0.96026	D	0.8040572	0.84165	0.68002355	0.81200	0.8040572	0.84167	0.68002355	0.81201	-8.713	0.65830	D	.	.	0.934	0.85795	P	.;.	.;.	4.738853	0.76397	26.5	0.99919780542108916	0.98654	0.98302	0.81423	D	AEFBI	0.870749	0.79184	D	0.801052545216315	0.86171	8.800886	0.777876996050408	0.88216	9.499908	0.999999999224703	0.74766	0.651	0.46895	0	0.653731	0.59785	0	0.608884	0.39905	0	0.683762	0.67416	0	.	.	5.54	5.54	0.82907	7.565000	0.81337	7.651000	0.63703	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:1.0:0.0:0.0	19.467	0.94937	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	.	.	.	.	.	.	.	.	0.1	42.02	131	chr5	119134101	.	C	T	42.02	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-4.412;DP=695;ExcessHet=0.2348;FS=314.114;InbreedingCoeff=-0.1029;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=0.18;ReadPosRankSum=1.26;SOR=8.789	GT:AD:DP:GQ:PL	0/1:104,27:131:8:8,0,2355	8	0	2	0
chr5	137906421	137906421	T	C	exonic	PKD2L2	.	nonsynonymous SNV	PKD2L2:NM_001258448:exon6:c.T962C:p.L321S,PKD2L2:NM_001258449:exon6:c.T962C:p.L321S,PKD2L2:NM_001300921:exon6:c.T962C:p.L321S,PKD2L2:NM_014386:exon6:c.T962C:p.L321S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.536	0.122047959102	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	2.053e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	6.569e-06	6.567e-06	0	1.345e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.002	0.78490	D	0.006	0.79402	D	0.766	0.48338	P	0.756	0.56253	P	0.202116	0.16574	N	0.478549	0.834841	0.34974	D	1.75	0.45442	L	-0.63	0.72011	T	-3.81	0.74661	D	0.721	0.72567	-0.2468	0.76445	T	0.381	0.73788	T	9	0.910351	0.90399	D	0.122048	0.80294	D	0.536	0.80545	0.728	0.86198	0.901118735053	0.90013	0.7312284619299615	0.73067	0.803677743758	0.66365	0.366009712219	0.20258	T	0.60138	0.87229	D	0.0864605	0.62788	D	-0.113582	0.62325	T	0.983352780342102	0.75052	D	0.777822	0.49240	T	0.45351657	0.64264	0.6442228	0.79204	0.45351657	0.64265	0.6442228	0.79205	-9.027	0.76421	D	.	.	0.285	0.52152	B	.;.;.;.	.;.;.;.	4.336977	0.66507	25.0	0.9984319673270835	0.92316	0.98597	0.84519	D	AEFI	0.894520	0.83357	D	0.433111648848361	0.63252	4.555418	0.480681553214537	0.66710	4.987782	0.999999774617012	0.74766	0.487112	0.14033	0	0.547309	0.14657	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.3	5.3	0.74745	7.988000	0.87839	6.145000	0.54110	0.609000	0.47794	0.985000	0.35982	1.000000	0.68203	0.930000	0.46718	0.0:0.0:0.0:1.0	14.914	0.70423	144	0.94257	.;.;Polycystin cation channel, PKD1/PKD2;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	576.43	50	chr5	137906421	.	T	C	576.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.16;DP=327;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.53;ReadPosRankSum=0.689;SOR=0.917	GT:AD:DP:GQ:PL	0/1:25,25:50:99:588,0,684	9	0	1	0
chr5	139319033	139319033	-	AAACCTGAAGGAAAGCCAGATCA	exonic	MATR3	.	frameshift insertion	MATR3:NM_001194956:exon7:c.570_571insAAACCTGAAGGAAAGCCAGATCA:p.K199Nfs*19,MATR3:NM_001194955:exon8:c.1434_1435insAAACCTGAAGGAAAGCCAGATCA:p.K487Nfs*19,MATR3:NM_018834:exon8:c.1434_1435insAAACCTGAAGGAAAGCCAGATCA:p.K487Nfs*19,MATR3:NM_001194954:exon10:c.1434_1435insAAACCTGAAGGAAAGCCAGATCA:p.K487Nfs*19,MATR3:NM_001282278:exon10:c.420_421insAAACCTGAAGGAAAGCCAGATCA:p.K149Nfs*19,MATR3:NM_199189:exon11:c.1434_1435insAAACCTGAAGGAAAGCCAGATCA:p.K487Nfs*19	Amyotrophic lateral sclerosis 21, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.573e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	249.39	29	chr5	139319033	.	G	GAAACCTGAAGGAAAGCCAGATCA	249.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.87;DP=256;ExcessHet=0;FS=20.134;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=55.78;MQRankSum=-5.192;QD=8.6;ReadPosRankSum=-2.002;SOR=2.784	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:21,8:29:99:0|1:139319033_G_GAAACCTGAAGGAAAGCCAGATCA:261,0,839:139319033	9	0	1	0
chr5	139319035	139319035	T	A	splicing	MATR3	NM_001282278:exon10:c.420+2T>A;NM_001194954:exon10:c.1434+2T>A;NM_199189:exon11:c.1434+2T>A;NM_018834:exon8:c.1434+2T>A;NM_001194956:exon7:c.570+2T>A;NM_001194955:exon8:c.1434+2T>A	.	.	Amyotrophic lateral sclerosis 21, Autosomal dominant	25	1496	1	0	0	1	0.000334113	0.9999	0.938	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	0.0001	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	6.572e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.291	0.82221	D	0.179937	0.81993	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.	5.784273	0.93538	33	0.98588189545455251	0.43336	0.97381	0.74389	D	AEFBI	.	.	.	0.987332639134437	0.95341	13.529	0.810502769161421	0.90515	10.44219	0.999999999664526	0.74766	0.115753	0.02995	0	0.12628	0.03447	0	0.17184	0.04098	0	0.195515	0.04268	0	0.97511	0.77948	5.56	5.56	0.83678	5.904000	0.69623	7.888000	0.72886	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.790000	0.37311	0.0:0.0:0.0:1.0	15.715	0.77425	619	0.66147	.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	249.44	29	chr5	139319035	.	T	A	249.44	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.42;DP=250;ExcessHet=0;FS=20.134;InbreedingCoeff=-0.0533;MLEAC=1;MLEAF=0.05;MQ=55.78;MQRankSum=-5.192;QD=8.6;ReadPosRankSum=-1.942;SOR=2.784	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:21,8:29:99:0|1:139319033_G_GAAACCTGAAGGAAAGCCAGATCA:261,0,839:139319033	9	0	1	0
chr5	140795407	140795407	T	C	exonic	PCDHA2	.	nonsynonymous SNV	PCDHA2:NM_018905:exon1:c.T443C:p.L148P,PCDHA2:NM_031495:exon1:c.T443C:p.L148P,PCDHA2:NM_031496:exon1:c.T443C:p.L148P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.059	0.00325067110374	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.622	0.05309	T	0.93	0.02777	T	0.001	0.12183	B	0.006	0.24676	B	0.208510	0.16423	N	0.291029	1	0.08975	N	-0.71	0.01811	N	2.2	0.18570	T	-0.35	0.12847	N	0.091	0.08925	-0.9474	0.41414	T	0.017	0.07187	T	10	0.048393816	0.04283	T	0.003251	0.07177	T	0.059	0.16972	0.553	0.66995	0.318828661733	0.31499	0.15311052001546874	0.15233	.	.	.	.	.	0.003266	0.02667	T	-0.315528	0.07271	T	-0.69101	0.06330	T	0.047776110470295	0.05103	T	0.666133	0.28883	T	0.044305272	0.07060	0.08597995	0.19889	0.044305272	0.07060	0.08597995	0.19888	-5.204	0.39874	T	.	.	0.052	0.00309	B	.;.;.	.;.;.	1.693171	0.21574	15.26	0.68757721557408413	0.08757	0.03939	0.09336	N	AEFDBHCI	0.128187	0.24586	N	-1.16248309724686	0.05577	0.2546209	-1.0840422663971	0.08014	0.3922364	0.730345896883492	0.23037	0.525926	0.21836	0	0.615948	0.52940	0	0.503968	0.08637	0	0.584449	0.35598	0	.	.	3.81	2.62	0.30337	-0.615000	0.05693	.	.	0.665000	0.62972	0.000000	0.06391	0.000000	0.08366	0.644000	0.32530	0.0:0.3231:0.0:0.6769	6.313	0.20384	18	0.98631	.;.;Cadherin-like	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	4064.43	276	chr5	140795407	.	T	C	4064.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-5.982;DP=750;ExcessHet=0;FS=3.344;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.73;ReadPosRankSum=-0.942;SOR=0.908	GT:AD:DP:GQ:PL	0/1:130,146:276:99:4076,0,4023	9	0	1	0
chr5	140966821	140966821	C	A	exonic	PCDHAC2	.	nonsynonymous SNV	PCDHAC2:NM_018899:exon1:c.C55A:p.P19T,PCDHAC2:NM_031883:exon1:c.C55A:p.P19T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.043	0.0303343851468	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	3.42e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.556	0.09236	T	0.039	0.40281	B	0.025	0.35118	B	0.019163	0.27317	N	0.177990	0.994069	0.42148	D	0	0.06538	N	0.91	0.44856	T	-0.46	0.14978	N	0.21	0.23380	-1.0549	0.13066	T	0.056	0.23527	T	10	0.086581975	0.14730	T	0.030334	0.52669	D	0.043	0.11576	0.382	0.39970	0.200294437569	0.19612	0.5114013974790689	0.51062	2.0836660373	0.94653	.	.	.	0.074485	0.34948	T	-0.164977	0.25996	T	-0.474755	0.25005	T	0.401051805416502	0.28981	T	0.706729	0.33613	T	0.17995371	0.39092	0.2429262	0.49724	0.17995371	0.39091	0.2429262	0.49723	-5.552	0.42351	T	.	.	0.079	0.07130	B	.;.	.;.	2.492576	0.32161	18.96	0.99759590724772373	0.84931	0.43049	0.27013	N	AEFDBCI	0.110160	0.21854	N	-0.339230286621503	0.27670	1.519997	-0.194818145434098	0.31727	1.798218	0.999998415347879	0.74766	0.652421	0.48094	0	0.573888	0.26702	0	0.64067	0.45733	0	0.554799	0.18163	0	.	.	5.3	5.3	0.74745	0.077000	0.14593	.	.	0.596000	0.33519	0.000000	0.06391	1.000000	0.68203	0.283000	0.24091	0.0:0.8525:0.1475:0.0	15.575	0.76111	54	0.97570	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	597.43	49	chr5	140966821	.	C	A	597.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.582;DP=350;ExcessHet=0;FS=2.512;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.19;ReadPosRankSum=-1.271;SOR=0.363	GT:AD:DP:GQ:PL	0/1:24,25:49:99:609,0,620	9	0	1	0
chr5	141179746	141179746	C	T	exonic	PCDHB8	.	nonsynonymous SNV	PCDHB8:NM_019120:exon1:c.C1712T:p.A571V	.	18	1502	2	0	0	2	0.000665336	.	.	.	2388401	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.107	0.0585790464368	0.0004	0.000199681	0.0003	0.0001	0.0003	0	0	0.0005	0	0.0003	7.68e-05	2	26028	rs141057693	0.0003	0.0003	0.0003	0.0003	0.0004	0.0003	0.0003	0.0003	0.0002	5.989e-05	0.0002	0.0055	0	0	0	0.0002	0.0004	0.0004	0.0003	0.0003	0.0003	0.0003	0.0004	0.0002	0.0002	0.0001	0.0001	9.617e-05	0	0.0002	0.0066	0	0	0	0.0002	0	0.0004	0.031	0.45039	D	0.026	0.55759	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	0.2	0.60111	T	-3.27	0.65512	D	0.09	0.06854	-0.8327	0.53127	T	0.202	0.55919	T	9	0.010360658	0.00231	T	0.058579	0.67369	D	0.107	0.30369	.	.	0.54249775568	0.53903	0.12960768829142308	0.12885	0.301071891717	0.32454	0.573905348778	0.49229	T	.	.	.	-0.194442	0.21609	T	-0.517079	0.20591	T	0.0483327444130339	0.05204	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.087	0.11414	B	.	.	1.164847	0.15540	11.93	0.99564452630964706	0.72014	0.08686	0.14580	N	AEFBI	0.070786	0.14064	N	-0.561790750729598	0.20115	1.058057	-0.592509009112781	0.19687	1.057401	0.00700901436650258	0.11362	0.580535	0.33130	0	0.547309	0.14657	0	0.576033	0.28219	0	0.613276	0.41899	0	.	.	4.22	2.41	0.28644	0.078000	0.14615	.	.	-0.632000	0.04510	0.000000	0.06391	0.000000	0.08366	0.029000	0.12982	0.0:0.6364:0.0:0.3636	7.354	0.25884	666	0.61362	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000561	0.000000	0.001362	0.000000	0.000000	0.000000	0.000000	0.000000	0.05	2070.43	277	chr5	141179746	.	C	T	2070.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=3.72;DP=1397;ExcessHet=0;FS=18.837;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=47.31;MQRankSum=-0.379;QD=7.47;ReadPosRankSum=1.04;SOR=0.657	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:192,85:277:99:1|0:141179739_G_A:2082,0,5678:141179739	9	0	1	0
chr5	141189272	141189272	C	T	exonic	PCDHB9	.	nonsynonymous SNV	PCDHB9:NM_019119:exon1:c.C1954T:p.R652C	.	78	1435	9	0	0	9	0.00312609	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00259585	0.0015	0.0006	0.0018	0.0005	0.0002	0.0022	0.0024	0.0005	0.000194	30	154602	rs534535624	0.0037	0.0048	0.0037	0.0037	0.0081	0.0036	0.0036	0.0059	0.0052	0.0010	0.0035	0.0016	0.0001	0.0012	0.0081	0.0042	0.0036	0.0014	0.0043	0.0044	0.0048	0.0039	0.0069	0.0041	0.0040	0.0064	0.0062	0.0019	0	0.0042	0.0035	0.0002	0.0008	0.0034	0.0069	0.0085	0.0019	.	.	.	0.007	0.69154	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.064	0.03613	.	.	.	.	.	.	.	0.0086324215	0.00196	T	.	.	.	.	.	.	.	0.433600339574	0.42977	0.3049119517238209	0.30404	.	.	0.443066358566	0.30996	T	.	.	.	-0.464479	0.00921	T	-0.445516	0.28193	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.104	0.18869	B	.	.	2.324416	0.29769	18.23	0.97148159929137468	0.32573	0.20372	0.21017	N	AEFI	.	.	.	.	.	.	.	.	.	0.0754974780936962	0.15698	0.078448	0.01964	0	0.097471	0.02872	0	0.083675	0.02720	0	0.062806	0.01542	0	0.614049	0.41051	3.32	1.17	0.19998	1.621000	0.36597	.	.	0.302000	0.18967	0.007000	0.17678	0.000000	0.08366	0.295000	0.24381	0.2915:0.7085:0.0:0.0	11.42	0.49219	670	0.60992	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003352	0.000000	0.004087	0.004237	0.000000	0.008772	0.006757	0.000000	0.15	3325.45	123	chr5	141189272	.	C	T	3325.45	.	AC=3;AF=0.15;AN=20;BaseQRankSum=2.05;DP=1074;ExcessHet=0.7463;FS=2.082;InbreedingCoeff=-0.1765;MLEAC=3;MLEAF=0.15;MQ=46.22;MQRankSum=-5.741;QD=7.66;ReadPosRankSum=-0.067;SOR=0.867	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:81,42:123:99:0|1:141189271_T_G:1490,0,3212:141189271	7	0	3	0
chr5	141247332	141247332	T	C	exonic	PCDHB15	.	nonsynonymous SNV	PCDHB15:NM_018935:exon1:c.T1754C:p.L585P	.	13	1491	17	1	0	19	0.00633122	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.507	.	0.0015	0.00239617	0.0043	0.0005	0.0094	0	0.0002	0.0053	0.0162	0.0020	0.0004916	76	154602	rs200613205	0.0045	0.0045	0.0046	0.0045	0.0194	0.0045	0.0044	0.0159	0.0147	0.0018	0.0087	0.0053	2.523e-05	0.0003	0.0194	0.0049	0.0054	0.0016	0.0035	0.0035	0.0035	0.0034	0.0058	0.0032	0.0031	0.0048	0.0045	0.0010	0	0.0058	0.0058	0	0.0004	0.0068	0.0051	0.0095	0.0014	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	.	.	.	.	0.999949	0.51968	D	2.37	0.68279	M	0.7	0.51474	T	-6.7	0.92476	D	0.803	0.79889	-0.4784	0.69426	T	0.276	0.64783	T	9	0.024506003	0.00676	T	.	.	.	0.507	0.78786	.	.	0.771716378111	0.76962	0.7332013691823474	0.73265	1.40351083469	0.85255	0.6692892313	0.62736	T	0.032607	0.22561	T	-0.245524	0.14652	T	-0.119623	0.61833	T	0.0386058951901212	0.03439	T	0.967203	0.88094	D	0.94529605	0.95787	0.90988696	0.95680	0.94529605	0.95787	0.90988696	0.95681	-10.281	0.75577	D	.	.	0.627	0.70007	P	.	.	3.702648	0.52822	23.3	0.99824757429874189	0.90677	0.93573	0.58587	D	AEFBI	0.801118	0.72691	D	0.608887404419376	0.73734	6.015101	0.53627324060847	0.70448	5.506766	0.481477650091747	0.20789	0.615465	0.37627	0	0.573888	0.26702	0	0.658983	0.55881	0	0.620846	0.47308	0	.	.	4.02	4.02	0.45968	4.882000	0.62813	.	.	0.493000	0.22426	1.000000	0.71638	1.000000	0.68203	0.854000	0.40426	0.0:0.0:0.0:1.0	12.957	0.57830	698	0.58074	Cadherin-like	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.018272	0.000000	0.024590	0.042735	0.000000	0.017241	0.006667	0.003937	0.15	2689.45	70	chr5	141247332	.	T	C	2689.45	.	AC=3;AF=0.15;AN=20;BaseQRankSum=-3.311;DP=534;ExcessHet=0.7463;FS=2.399;InbreedingCoeff=-0.1765;MLEAC=3;MLEAF=0.15;MQ=41.91;MQRankSum=-1.258;QD=12.99;ReadPosRankSum=-0.072;SOR=0.525	GT:AD:DP:GQ:PL	0/1:28,42:70:99:1110,0,873	7	0	3	0
chr5	141247482	141247482	T	C	exonic	PCDHB15	.	nonsynonymous SNV	PCDHB15:NM_018935:exon1:c.T1904C:p.V635A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.039	0.00410780422853	.	.	9.521e-05	0	0.0004	0	0	9.565e-05	0	6.081e-05	.	.	.	rs17844635	9.75e-05	0.0001	0.0001	9.383e-05	0.0004	8.408e-05	7.945e-05	0.0003	0.0002	2.994e-05	0.0004	0	0.0004	1.983e-05	0	7.196e-05	0.0003	8.126e-05	0.0003	0.0003	0.0003	0.0004	0.0021	0.0002	0.0002	0.0015	0.0013	2.405e-05	0	0.0021	0	0	0	0	0.0001	0.0028	0	1.0	0.00964	T	1.0	0.01155	T	0.001	0.07471	B	0.004	0.10090	B	.	.	.	.	1	0.08975	N	-0.935	0.01286	N	0.72	0.50976	T	2.64	0.00202	N	0.014	0.00160	-0.9897	0.32677	T	0.034	0.14464	T	9	0.011955917	0.00259	T	0.004108	0.09838	T	0.039	0.10176	0.498	0.58835	0.458464862945	0.45469	0.2869381214816212	0.28606	0.512607946338	0.49291	0.550427496433	0.45918	T	5.57E-4	0.00219	T	-0.359161	0.04178	T	-0.753686	0.03345	T	0.0090969121300539	0.00114	T	0.283672	0.04999	T	0.016607454	0.00209	0.03379814	0.02335	0.016607454	0.00209	0.03379814	0.02334	2.293	0.00039	T	.	.	0.046	0.00060	B	.	.	0.220842	0.06030	2.474	0.33101386275899913	0.01954	0.00212	0.01206	N	AEFDBI	0.018278	0.00542	N	-1.28179172440203	0.03894	0.1748106	-1.12079363477591	0.07303	0.354739	0.00510431179536543	0.10829	0.615465	0.37627	0	0.573888	0.26702	0	0.658983	0.55881	0	0.564101	0.26826	0	.	.	4.28	2.45	0.28953	-1.301000	0.02857	.	.	-1.104000	0.01503	0.000000	0.06391	0.000000	0.08366	0.972000	0.54974	0.0:0.5714:0.1546:0.274	4.904	0.13144	697	0.58201	Cadherin-like|Cadherin-like	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1232.43	125	chr5	141247482	.	T	C	1232.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.635;DP=529;ExcessHet=0;FS=4.375;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=54.31;MQRankSum=-7.506;QD=9.86;ReadPosRankSum=0.038;SOR=1.101	GT:AD:DP:GQ:PL	0/1:73,52:125:99:1244,0,2022	9	0	1	0
chr5	141303079	141303079	C	G	exonic	SLC25A2	.	nonsynonymous SNV	SLC25A2:NM_031947:exon1:c.G787C:p.V263L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.146	0.00909780768334	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.611e-06	0.0012	9.648e-06	5.557e-06	9.117e-06	4.08e-06	2.99e-06	4.61e-06	3.36e-06	0	0	3.841e-05	0	0	0	9.117e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.865	0.02639	T	0.669	0.06325	T	0.0	0.02946	B	0.001	0.04355	B	0.940851	0.07593	N	1.028430	0.99999	0.08975	N	-1.395	0.00601	N	-1.1	0.77336	T	0.91	0.01595	N	0.015	0.00181	-1.0189	0.24074	T	0.099	0.36957	T	10	0.04655108	0.03861	T	0.009098	0.23941	T	0.146	0.38789	0.353	0.35246	0.307966526162	0.30417	0.15140888837097558	0.15062	0.179086514007	0.20148	0.295074403286	0.09668	T	0.158211	0.50113	T	-0.262078	0.12658	T	-0.614233	0.11644	T	0.0472256252312583	0.05005	T	0.090191	0.00668	T	0.05519885	0.10696	0.03909303	0.03923	0.05519885	0.10696	0.03909303	0.03923	-0.632	0.00670	T	.	.	0.081	0.08129	B	.	.	0.911050	0.12853	9.367	0.29972271365944797	0.01616	0.36561	0.25561	N	AEFDBI	0.079883	0.16143	N	-1.27563492994376	0.03971	0.1783734	-1.17336112797431	0.06358	0.3057852	0.0027045709993126	0.09647	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	3.79	-1.96	0.07113	0.290000	0.18731	.	.	-0.219000	0.08017	0.857000	0.30561	0.000000	0.08366	0.938000	0.47775	0.1892:0.2274:0.2747:0.3086	0.421	0.00425	508	0.75398	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.25	3708.82	169	chr5	141303079	.	C	G	3708.82	.	AC=4;AF=0.25;AN=16;BaseQRankSum=-4.49;DP=1503;ExcessHet=2.8389;FS=221.973;InbreedingCoeff=-0.4286;MLEAC=5;MLEAF=0.313;MQ=60;MQRankSum=0;QD=4.1;ReadPosRankSum=2.36;SOR=10.911	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:127,35:169:99:.:.:540,0,4684:.	4	0	4	2
chr5	141303081	141303081	A	G	exonic	SLC25A2	.	nonsynonymous SNV	SLC25A2:NM_031947:exon1:c.T785C:p.I262T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.304	0.0473896448522	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.057e-05	0.0052	9.083e-05	7.061e-05	9.408e-05	6.666e-05	6.17e-05	7.637e-05	7.056e-05	7.663e-05	2.352e-05	9.167e-05	0	0	0	9.408e-05	0.0001	3.753e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.65419	D	0.012	0.63918	D	0.031	0.20130	B	0.072	0.28043	B	0.002026	0.37411	N	0.228449	0.664955	0.33087	D	2.495	0.72670	M	-1.43	0.80730	T	-3.37	0.66665	D	0.15	0.15328	-0.2969	0.75071	T	0.436	0.77580	T	10	0.32646608	0.49943	T	0.04739	0.62897	D	0.304	0.62510	0.714	0.84962	0.796736975761	0.79484	0.3777484127299112	0.37689	0.256540601776	0.28227	0.559880197048	0.47250	T	0.479583	0.80893	T	-0.0449841	0.45207	T	-0.302393	0.44473	T	0.91609662771225	0.57338	D	0.873613	0.58243	D	0.3416271	0.56408	0.3380717	0.59590	0.3416271	0.56408	0.3380717	0.59589	-5.782	0.44417	T	.	.	0.170	0.37388	B	.	.	3.362138	0.46425	22.3	0.97252123840185223	0.33047	0.90378	0.51506	D	AEFDBI	0.134760	0.25488	N	-0.253584900046592	0.30961	1.73137	-0.254588989580657	0.29613	1.660522	0.0034441891907943	0.10119	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	3.79	1.42	0.21524	2.856000	0.48040	.	.	0.751000	0.87719	0.966000	0.33990	0.265000	0.24010	0.967000	0.53440	0.789:0.0:0.211:0.0	6.656	0.22177	508	0.75398	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.4444	5820.05	170	chr5	141303081	.	A	G	5820.05	.	AC=8;AF=0.444;AN=18;BaseQRankSum=-3.609;DP=2013;ExcessHet=10.3881;FS=210.687;InbreedingCoeff=-0.7391;MLEAC=8;MLEAF=0.444;MQ=60;MQRankSum=0;QD=3.79;ReadPosRankSum=1.97;SOR=12.095	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:136,34:170:99:.:.:437,0,4782:.	1	0	8	1
chr5	141332656	141332656	G	A	exonic	PCDHGA1	.	nonsynonymous SNV	PCDHGA1:NM_018912:exon1:c.G1972A:p.V658I,PCDHGA1:NM_031993:exon1:c.G1972A:p.V658I	.	9	1503	10	0	0	10	0.00331565	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.098	0.0124638424682	0.0031	0.00219649	0.0040	0.0007	0.0039	0	0.0009	0.0055	0.0045	0.0031	0.0035899	555	154602	rs144494457	0.0039	0.0039	0.0039	0.0039	0.0051	0.0038	0.0038	0.0043	0.0042	0.0006	0.0039	0.0021	2.519e-05	0.0013	0.0051	0.0044	0.0036	0.0034	0.0030	0.0030	0.0029	0.0030	0.0042	0.0027	0.0026	0.0038	0.0037	0.0007	0.0779	0.0020	0.0017	0	0.0007	0.0034	0.0042	0.0028	0.0025	0.075	0.36709	T	0.05	0.48855	T	0.373	0.35524	B	0.169	0.39460	B	0.013067	0.28961	N	0.161132	0.999874	0.19925	N	2.39	0.68882	M	0.64	0.52867	T	-0.86	0.23372	N	0.074	0.08646	-0.9272	0.44545	T	0.134	0.44856	T	10	0.0055934787	0.00124	T	0.012464	0.31052	T	0.098	0.28162	.	.	0.658416286431	0.65555	0.3349144638359277	0.33404	0.403497573991	0.41283	.	.	.	0.095389	0.39610	T	-0.569302	0.00223	T	-0.589723	0.13690	T	0.00840691630475525	0.00102	T	0.815518	0.47040	T	0.05015328	0.09019	0.07202309	0.15489	0.05015328	0.09018	0.07202309	0.15488	-11.716	0.84082	D	.	.	0.09	0.12607	B	.;.	.;.	1.675652	0.21359	15.16	0.98293993557888693	0.39973	0.89234	0.49577	D	AEFDBHI	0.184420	0.31174	N	-0.129215383799397	0.36125	2.083882	-0.161143010309826	0.32982	1.881894	0.172853757004976	0.17761	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	3.77	1.96	0.25203	2.046000	0.40883	.	.	0.608000	0.46601	0.030000	0.20431	0.145000	0.23127	0.520000	0.29475	0.1831:0.0:0.8169:0.0	9.997	0.41076	474	0.77851	.;Cadherin-like|Cadherin-like	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.005285	0.000000	0.008152	0.000000	0.000000	0.017241	0.006098	0.000000	0.05	1583.43	89	chr5	141332656	.	G	A	1583.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.187;DP=696;ExcessHet=0;FS=4.17;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=54.35;MQRankSum=7.82;QD=17.79;ReadPosRankSum=-1.041;SOR=0.374	GT:AD:DP:GQ:PL	0/1:37,52:89:99:1595,0,1129	9	0	1	0
chr5	146516045	146516045	A	C	exonic	GPR151	.	nonsynonymous SNV	GPR151:NM_194251:exon1:c.T69G:p.F23L	.	417	1087	17	1	0	19	0.00866393	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.218	0.00776105164196	0.0005	0.000599042	0.0007	0	0.0013	0	0	0.0007	0.0011	0.0009	0.000718	111	154602	rs144066680	0.0007	0.0007	0.0007	0.0007	0.0215	0.0007	0.0007	0.0184	0.0173	0.0008	0.0014	0.0011	0	3.747e-05	0.0215	0.0005	0.0015	0.0015	0.0006	0.0006	0.0006	0.0006	0.0012	0.0005	0.0005	0.0008	0.0006	0.0002	0	0.0012	0.0009	0	0	0.0204	0.0007	0.0043	0.0004	0.01	0.56456	D	0.021	0.58089	D	0.982	0.60036	D	0.661	0.52837	P	0.001536	0.38731	N	0.233607	0.832065	0.34933	D	2.34	0.67151	M	1.24	0.36691	T	-0.78	0.21644	N	0.392	0.43320	-0.9366	0.43149	T	0.112	0.40052	T	10	0.040843636	0.02687	T	0.007761	0.20589	T	0.218	0.51265	0.62	0.75461	0.820605682609	0.81891	0.7223126397742784	0.72175	0.154179888537	0.17409	0.652527451515	0.60344	T	0.107698	0.42012	T	-0.313783	0.07419	T	-0.264037	0.48420	T	0.0500595988291035	0.05511	T	0.643236	0.25495	T	0.1056631	0.24982	0.098582245	0.23509	0.1056631	0.24982	0.098582245	0.23508	-2.516	0.05891	T	.	.	0.884	0.81728	P	.	.	2.645456	0.34434	19.63	0.99802823926362716	0.88728	0.87375	0.46895	D	AEFBCI	0.264022	0.38144	N	0.355397155646313	0.59025	4.078686	0.388876505298521	0.60879	4.280566	0.850393776979829	0.25033	0.616025	0.39624	0	0.55458	0.17659	0	0.574621	0.27300	0	0.664235	0.64389	0	.	.	5.9	4.75	0.59954	2.373000	0.43920	1.104000	0.24096	0.691000	0.84096	1.000000	0.71638	0.991000	0.31484	0.990000	0.65344	0.9237:0.0:0.0763:0.0	10.544	0.44236	920	0.19381	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.011581	0.005051	0.016304	0.029240	0.050000	0.025862	0.003049	0.003788	0.05	1463.43	117	chr5	146516045	.	A	C	1463.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.641;DP=464;ExcessHet=0;FS=0.728;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.51;ReadPosRankSum=0.412;SOR=0.574	GT:AD:DP:GQ:PL	0/1:61,56:117:99:1475,0,1703	9	0	1	0
chr5	149621740	149621740	G	A	exonic	ARHGEF37	.	nonsynonymous SNV	ARHGEF37:NM_001001669:exon9:c.G1013A:p.R338Q	.	419	1033	67	3	0	73	0.0341281	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.287	.	0.0017	0.00239617	0.0035	0.0005	0.0013	0.0002	0.0002	0.0026	0.0035	0.0150	0.0030659	474	154602	rs139526604	0.0020	0.0020	0.0015	0.0025	0.0186	0.0019	0.0019	0.0158	0.0147	0.0004	0.0010	0.0044	0.0002	0.0002	0.0186	0.0011	0.0026	0.0137	0.0015	0.0015	0.0013	0.0018	0.0097	0.0014	0.0013	0.0075	0.0067	0.0003	0	0.0019	0.0038	0.0002	0.0004	0.0034	0.0018	0.0028	0.0097	0.028	0.46129	D	0.039	0.51112	D	0.867	0.47667	P	0.4	0.44481	B	0.000024	0.55875	N	0.111842	1	0.81001	D	2.36	0.67893	M	-0.06	0.63568	T	-2.91	0.60982	D	0.196	0.21580	-0.5533	0.66661	T	0.282	0.65359	T	10	0.008068293	0.00183	T	.	.	.	0.287	0.60574	.	.	0.275215494804	0.27121	0.5262534306056779	0.52549	0.307136892763	0.33015	0.341207176447	0.16619	T	0.057572	0.30604	T	-0.238972	0.15480	T	-0.105012	0.63007	T	0.0394868305183321	0.03597	T	0.805919	0.45429	T	0.30385897	0.53248	0.41543442	0.65658	0.30385897	0.53248	0.41543442	0.65658	-2.71	0.07387	T	.	.	0.08	0.07793	B	.	.	3.930896	0.57454	23.9	0.99923209850801342	0.98917	0.98856	0.87762	D	AEFBI	0.633477	0.61371	D	0.47385892718642	0.65568	4.838959	0.506868326422859	0.68453	5.22189	0.999999999995626	0.74766	0.372202	0.05800	0	0.547309	0.14657	0	0.547309	0.15389	0	0.491896	0.07777	0	.	.	6.17	5.31	0.75063	6.854000	0.75239	7.439000	0.58857	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.881000	0.42162	0.0672:0.0:0.9328:0.0	15.280	0.73478	795	0.45444	BAR domain|BAR domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.015625	0.000000	0.008152	0.026316	0.000000	0.017241	0.018293	0.030303	0.1	2081.14	67	chr5	149621740	.	G	A	2081.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=2.29;DP=438;ExcessHet=0.2348;FS=0;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=15.65;ReadPosRankSum=-0.11;SOR=0.652	GT:AD:DP:GQ:PL	0/1:27,40:67:99:1196,0,625	8	0	2	0
chr5	154834880	154834880	G	C	exonic	FAXDC2	.	nonsynonymous SNV	FAXDC2:NM_032385:exon3:c.C103G:p.L35V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.128	0.0225774624919	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.51e-05	8.073e-05	1.775e-05	1.243e-05	5.991e-05	9.89e-06	8.44e-06	1.015e-05	8.37e-06	5.991e-05	0	0	0	0	0	1.624e-05	3.321e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.234	0.22660	T	0.192	0.28300	T	0.741	0.42992	P	0.178	0.35748	B	0.000062	0.52346	D	0.127254	0.999577	0.47641	D	2.33	0.66821	M	0.11	0.61208	T	-1.43	0.42575	N	0.476	0.55280	-0.7898	0.55741	T	0.177	0.52272	T	10	0.3608216	0.52717	T	0.022577	0.45482	T	0.128	0.35103	0.368	0.37687	0.50685403127	0.50322	0.5472392752767269	0.54649	0.565306047963	0.52874	0.427203059196	0.28826	T	0.006447	0.05881	T	-0.0350922	0.46673	T	-0.288184	0.45962	T	0.975553870201111	0.70985	D	0.824718	0.55237	T	0.1653164	0.36795	0.16677296	0.38511	0.1653164	0.36795	0.16677296	0.38510	-4.327	0.28554	T	.	.	0.122	0.45149	B	.;.;.;.;.	.;.;.;.;.	3.205176	0.43602	21.8	0.99783212881991934	0.86955	0.93639	0.58770	D	AEFDGBHCI	0.839166	0.75660	D	0.282525933287588	0.55260	3.690427	0.346314316601126	0.58285	3.998306	0.999999999999752	0.74766	0.536635	0.22144	0	0.546412	0.12157	0	0.489635	0.07774	0	0.322989	0.05693	1	.	.	6.04	5.18	0.71140	4.974000	0.63486	8.428000	0.77165	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.933000	0.47100	0.0681:0.0:0.9319:0.0	15.162	0.72472	879	0.29470	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3125	695.79	120	chr5	154834880	.	G	C	695.79	.	AC=5;AF=0.313;AN=16;BaseQRankSum=-3.947;DP=1265;ExcessHet=2.8389;FS=294.497;InbreedingCoeff=-0.4324;MLEAC=6;MLEAF=0.375;MQ=60;MQRankSum=0;QD=1.13;ReadPosRankSum=0.554;SOR=10.414	GT:AD:DP:GQ:PL	0/1:83,32:120:56:56,0,1641	3	0	5	2
chr5	154905423	154905423	T	C	exonic	GEMIN5	.	nonsynonymous SNV	GEMIN5:NM_001252156:exon17:c.A2446G:p.K816E,GEMIN5:NM_015465:exon17:c.A2449G:p.K817E	.	432	1089	1	0	0	1	0.000458926	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.361	0.0459097469011	.	.	8.246e-06	9.688e-05	0	0	0	0	0	0	6.5e-06	1	154602	rs762383080	9.599e-06	1.163e-05	5.458e-06	1.378e-05	0.0005	5.57e-06	4.36e-06	0.0001	7.557e-05	0	2.247e-05	0	2.526e-05	0	0.0005	6.306e-06	0	2.336e-05	6.573e-06	6.567e-06	0	1.346e-05	.	0	0	.	.	0	0	0	0	0	0	0	0	0.0005	0	0.17	0.22833	T	0.064	0.44905	T	0.988	0.62325	D	0.76	0.56425	P	0.000031	0.55875	D	0.121494	0.768069	0.29467	N	2.42	0.70002	M	-0.81	0.73949	T	-0.14	0.09135	N	0.659	0.66873	-0.3251	0.74278	T	0.418	0.76449	T	10	0.6870242	0.71624	D	0.04591	0.62205	D	0.361	0.68141	0.415	0.45380	0.764286150549	0.76213	0.1706679554886014	0.16986	0.163586975449	0.18448	0.456630110741	0.32849	T	0.003213	0.02616	T	-0.0518712	0.44162	T	-0.130139	0.60960	T	0.302860349416733	0.25121	T	0.736726	0.35329	T	0.08711296	0.20272	0.1204303	0.29063	0.08711296	0.20272	0.1204303	0.29062	-3.322	0.14022	T	.	.	0.09	0.12607	B	.	.	3.882855	0.56447	23.7	0.99844968157005887	0.92489	0.91031	0.52725	D	AEFBI	0.138822	0.26023	N	0.48371340456182	0.66139	4.911616	0.49632639729583	0.67746	5.125458	0.996484076098522	0.34777	0.732398	0.92422	0	0.708844	0.79440	0	0.743671	0.96076	0	0.727631	0.95156	0	.	.	5.63	5.63	0.86108	3.027000	0.49381	4.824000	0.45142	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.1715:0.0:0.0:0.8285	9.256	0.36747	904	0.23766	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	2264.43	160	chr5	154905423	.	T	C	2264.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.786;DP=461;ExcessHet=0;FS=1.265;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.15;ReadPosRankSum=-0.101;SOR=0.572	GT:AD:DP:GQ:PL	0/1:66,94:160:99:2276,0,1672	9	0	1	0
chr5	157052557	157052557	C	0	exonic	HAVCR1	.	.	.	.	1	2	91	30	102	253	0.974194	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.65	43716.6	395	chr5	157052557	.	C	*	43716.6	.	AC=13;AF=0.65;AN=20;BaseQRankSum=-1.148;DP=5393;ExcessHet=0.7463;FS=0;InbreedingCoeff=-0.1765;MLEAC=13;MLEAF=0.65;MQ=60;MQRankSum=0;QD=9.02;ReadPosRankSum=1.9;SOR=0.66	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,395:395:99:.:.:17645,1198,0:.	1	4	5	0
chr5	173235023	173235023	C	G	exonic	NKX2-5	.	nonsynonymous SNV	NKX2-5:NM_001166175:exon1:c.G61C:p.E21Q,NKX2-5:NM_001166176:exon1:c.G61C:p.E21Q,NKX2-5:NM_004387:exon1:c.G61C:p.E21Q	Atrial septal defect 7, with or without AV conduction defects, Autosomal dominant;Conotruncal heart malformations, variable;Hypoplastic left heart syndrome 2, Autosomal dominant;Hypothyroidism, congenital nongoitrous, 5, Autosomal dominant;Tetralogy of Fallot, Autosomal dominant;Ventricular septal defect 3, Autosomal dominant	0	1516	1	0	5	6	0.000329707	.	.	.	24048	Cardiovascular_phenotype|not_specified|not_provided|Tetralogy_of_Fallot|Congenital_heart_disease|Atrial_septal_defect_7	MedGen:CN230736|MedGen:CN169374|MedGen:C3661900|Human_Phenotype_Ontology:HP:0001636,MONDO:MONDO:0008542,MedGen:C0039685,OMIM:187500,Orphanet:3303|MONDO:MONDO:0005453,MedGen:C0152021|MONDO:MONDO:0007173,MedGen:C3276096,OMIM:108900,Orphanet:1479	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.780	0.659068436071	0.0006	.	0.0008	0	0.0003	0	0	0.0014	0	0	0.000705	109	154602	rs104893904	0.0006	0.0006	0.0005	0.0006	0.0012	0.0005	0.0005	0.0006	0.0004	0	0.0002	0.0219	0	0	0.0012	0.0001	0.0014	0.0001	0.0007	0.0007	0.0006	0.0008	0.0003	0.0006	0.0006	0.0002	0.0002	0	0	6.533e-05	0.0236	0	0	0.0034	0.0003	0.0014	0	0.003	0.91255	D	0.0	0.92824	D	0.948	0.90584	P	0.502	0.69585	P	0.547781	0.11468	N	0.786497	0.999998	0.58761	A	2.11	0.58565	M	-3.0	0.94067	D	-1.89	0.56301	N	0.342	0.53181	0.940	0.96249	D	0.897	0.96598	D	9	0.009920806	0.00222	T	0.659068	0.97132	D	0.780	0.92664	.	.	0.824267568841	0.82260	0.7807543761662172	0.78026	1.3426112449	0.83886	0.82370531559	0.85596	D	0.536374	0.84047	D	0.10136	0.64439	D	0.192534	0.82713	D	0.0525488041714048	0.05942	T	0.924208	0.82717	D	0.32520714	0.55075	0.40486005	0.64902	0.4831651	0.66092	0.41848046	0.65870	-9.188	0.68899	D	.	.	0.480	0.75908	A	.;.;.;.	.;.;.;.	4.856388	0.79421	27.1	0.99797040567613227	0.88194	0.97120	0.72807	D	ALL	0.845987	0.76288	D	0.647958712427146	0.76237	6.449447	0.607832399809822	0.75506	6.322867	0.999999999999865	0.74766	0.59774	0.34471	0	0.596491	0.49125	0	0.378051	0.06126	2	0.63947	0.58350	0	.	.	4.76	4.76	0.60189	5.693000	0.67926	7.524000	0.59808	0.524000	0.24156	1.000000	0.71638	1.000000	0.68203	0.988000	0.63387	0.0:1.0:0.0:0.0	18.121	0.89499	872	0.31118	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.05	320.43	53	chr5	173235023	.	C	G	320.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.225;DP=390;ExcessHet=0;FS=2.528;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=6.05;ReadPosRankSum=0.029;SOR=0.832	GT:AD:DP:GQ:PL	0/1:37,16:53:99:332,0,996	9	0	1	0
chr5	175521940	175521940	C	T	exonic	SFXN1	.	nonsynonymous SNV	SFXN1:NM_001322980:exon8:c.C668T:p.T223I,SFXN1:NM_001322981:exon8:c.C668T:p.T223I,SFXN1:NM_001322977:exon9:c.C796T:p.P266S,SFXN1:NM_001322978:exon9:c.C613T:p.P205S,SFXN1:NM_001322982:exon9:c.C613T:p.P205S,SFXN1:NM_022754:exon9:c.C796T:p.P266S	.	431	1080	10	1	0	12	0.00552486	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.511	0.0503870033387	0.0041	0.00139776	0.0033	0.0008	0.0013	0	0.0020	0.0046	0.0033	0.0036	0.0034799	538	154602	rs34907038	0.0053	0.0054	0.0054	0.0052	0.0061	0.0052	0.0051	0.0060	0.0060	0.0008	0.0016	0.0019	2.524e-05	0.0024	0.0016	0.0061	0.0047	0.0038	0.0039	0.0039	0.0041	0.0038	0.0061	0.0037	0.0036	0.0056	0.0054	0.0012	0.0702	0.0022	0.0017	0	0.0008	0.0136	0.0061	0.0033	0.0033	0.003	0.68238	D	0.003	0.76473	D	0.975	0.58077	D	0.936	0.67150	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.99	0.96693	H	1.16	0.38073	T	-7.76	0.95815	D	0.928	0.93252	-0.6002	0.64809	T	0.206	0.56417	T	10	0.067386866	0.09382	T	0.050387	0.64219	D	0.511	0.79033	.	.	0.486382865207	0.48270	0.8434605750293743	0.84307	0.788034645035	0.65629	0.686604499817	0.65218	T	0.181221	0.53282	T	-0.0612397	0.42715	T	0.143402	0.79763	D	0.132652496720389	0.15625	T	0.963004	0.86214	D	0.7855892	0.82999	0.8011109	0.88339	0.7855892	0.83001	0.8011109	0.88340	-10.233	0.75294	D	.	.	0.628	0.70036	P	.	.	4.390903	0.67767	25.1	0.99884778255338802	0.96049	0.99225	0.93076	D	AEFBI	0.870822	0.79194	D	0.749742866192427	0.82887	7.875422	0.668702794277156	0.80008	7.204902	0.999999999994323	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.643519	0.47002	0	0.714379	0.83352	0	.	.	5.82	5.82	0.92740	7.798000	0.84489	7.638000	0.63056	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.887000	0.42601	0.0:1.0:0.0:0.0	18.678	0.91497	878	0.29785	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003021	0.005051	0.005435	0.000000	0.000000	0.000000	0.003049	0.003788	0.05	447.43	41	chr5	175521940	.	C	T	447.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1;DP=361;ExcessHet=0;FS=4.921;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.91;ReadPosRankSum=0.132;SOR=0.228	GT:AD:DP:GQ:PL	0/1:24,17:41:99:459,0,689	9	0	1	0
chr5	176388854	176388854	C	A	exonic	HIGD2A	.	nonsynonymous SNV	HIGD2A:NM_138820:exon1:c.C35A:p.P12H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.124	0.0566409750044	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.001	0.83351	D	0.964	0.55854	D	0.541	0.48869	P	0.000013	0.62929	D	0.115764	0.945614	0.81001	D	2.595	0.75868	M	.	.	.	-2.59	0.55821	D	0.29	0.32812	-0.4691	0.69756	T	0.244	0.61260	T	9	0.2698177	0.44510	T	0.056641	0.66679	D	0.124	0.34239	0.22	0.14224	0.167679373172	0.16340	0.8534270995725388	0.85304	0.992328238747	0.74125	0.348370343447	0.17682	T	0.184748	0.53750	T	-0.0265175	0.47920	T	-0.275867	0.47226	T	0.981484174728394	0.73938	D	0.651635	0.26249	T	0.2903732	0.52027	0.36907792	0.62185	0.2903732	0.52027	0.36907792	0.62184	-6.126	0.47322	T	.	.	0.113	0.22464	B	.	.	3.217205	0.43821	21.8	0.99516622842590474	0.68979	0.89537	0.50064	D	ALL	0.608985	0.59836	D	0.0858187853976181	0.45802	2.830685	-0.0278073142709357	0.38465	2.266521	0.999999999999996	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	5.37	4.49	0.54177	2.122000	0.41610	2.132000	0.30787	0.599000	0.40250	0.303000	0.25352	0.008000	0.19753	0.020000	0.11549	0.0:0.8246:0.1754:0.0	11.869	0.51789	466	0.78352	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	2545.43	190	chr5	176388854	.	C	A	2545.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.292;DP=571;ExcessHet=0;FS=2.491;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.4;ReadPosRankSum=-0.334;SOR=0.535	GT:AD:DP:GQ:PL	0/1:92,98:190:99:2557,0,2485	9	0	1	0
chr5	176598760	176598760	C	T	exonic	GPRIN1	.	nonsynonymous SNV	GPRIN1:NM_052899:exon2:c.G1075A:p.G359R	.	429	1079	13	1	0	15	0.0069029	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.017	0.00612717103086	0.0008	0.000399361	0.0006	9.878e-05	0.0008	0	0.0011	0.0009	0.0022	6.058e-05	0.0006921	107	154602	rs140938518	0.0007	0.0007	0.0007	0.0007	0.0120	0.0006	0.0006	0.0097	0.0089	0.0003	0.0008	0.0006	0	0.0013	0.0120	0.0006	0.0010	0.0002	0.0007	0.0007	0.0007	0.0006	0.0011	0.0006	0.0005	0.0009	0.0008	0.0001	0	0.0004	0.0003	0	0.0004	0.0272	0.0011	0.0005	0	0.015	0.52492	D	0.199	0.27679	T	0.253	0.31246	B	0.127	0.32738	B	0.237595	0.15783	N	0.482216	1	0.08975	N	0.83	0.20963	L	2.8	0.11082	T	-2.13	0.48354	N	0.044	0.01658	-1.0186	0.24171	T	0.027	0.11529	T	10	0.009430021	0.00213	T	0.006127	0.16052	T	0.017	0.02790	0.16	0.06396	0.043077524339	0.03247	0.10408127190816659	0.10338	.	.	0.231071025133	0.02048	T	0.006695	0.06116	T	-0.620524	0.00109	T	-0.70465	0.05575	T	0.00761173963649218	0.00088	T	0.458654	0.13238	T	0.092772104	0.21772	0.09501047	0.22514	0.092772104	0.21772	0.09501047	0.22513	-4.959	0.36392	T	.	.	0.132	0.28521	B	.	.	1.389074	0.18013	13.50	0.99047249146670591	0.51162	0.04377	0.09953	N	AEFBI	0.042837	0.06697	N	-0.698867452680205	0.16053	0.8145636	-0.757337535487891	0.15542	0.8179056	0.937891012327117	0.27318	0.695654	0.57023	0	0.546412	0.12157	0	0.723109	0.80598	0	0.635551	0.53088	0	.	.	4.85	3.05	0.34272	-0.055000	0.11763	0.508000	0.19055	-0.184000	0.09925	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.0:0.8081:0.0:0.1919	8.467	0.32123	374	0.84073	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.007049	0.005051	0.009511	0.014620	0.000000	0.000000	0.003049	0.000000	0.05	1471.43	109	chr5	176598760	.	C	T	1471.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=3.51;DP=833;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.5;ReadPosRankSum=-0.981;SOR=0.632	GT:AD:DP:GQ:PL	0/1:60,49:109:99:1483,0,1646	9	0	1	0
chr5	177332169	177332169	C	T	exonic	LMAN2	.	nonsynonymous SNV	LMAN2:NM_006816:exon8:c.G988A:p.A330T	.	426	1086	10	0	0	10	0.00458295	.	.	.	721395	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.100	0.017381909764	0.0066	0.00319489	0.0055	0.0004	0.0016	0	0.0030	0.0081	0.0048	0.0051	0.0056274	870	154602	rs150674852	0.0071	0.0071	0.0071	0.0071	0.0080	0.0070	0.0069	0.0078	0.0078	0.0012	0.0020	0.0123	2.519e-05	0.0032	0.0057	0.0080	0.0067	0.0054	0.0054	0.0054	0.0060	0.0046	0.0082	0.0051	0.0049	0.0076	0.0074	0.0014	0.0614	0.0029	0.0115	0	0.0021	0.0068	0.0082	0.0061	0.0050	0.395	0.10659	T	0.73	0.05165	T	0.313	0.32852	B	0.019	0.18783	B	0.000002	0.62929	D	0.056604	0.999778	0.81001	D	1.185	0.30054	L	-0.07	0.63738	T	-0.87	0.23590	N	0.482	0.51672	-0.9177	0.45864	T	0.127	0.43360	T	10	0.0093584955	0.00211	T	0.017382	0.39055	T	0.100	0.28662	.	.	0.623404466153	0.62034	0.5442323423595946	0.54349	0.439953692951	0.44012	0.790500640869	0.80519	T	0.082949	0.36945	T	-0.362589	0.03985	T	-0.284216	0.46370	T	0.0076413674045253	0.00089	T	0.913209	0.69058	D	0.07518554	0.16922	0.112450674	0.27132	0.07518554	0.16921	0.112450674	0.27131	-4.055	0.24624	T	.	.	0.179	0.39081	B	.	.	4.257340	0.64674	24.7	0.99665045043375566	0.78202	0.94008	0.59836	D	AEFDBI	0.446123	0.50232	N	0.00288589649692123	0.41987	2.521	0.124096177169886	0.45785	2.835501	0.99998539257677	0.51787	0.706548	0.73137	0	0.702456	0.74545	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	5.26	4.33	0.51083	3.146000	0.50327	5.812000	0.50015	0.599000	0.40250	0.996000	0.39380	1.000000	0.68203	0.886000	0.42526	0.2638:0.7362:0.0:0.0	13.182	0.59082	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	0	0	1	0	0.003532	0.000000	0.002717	0.002924	0.000000	0.008621	0.006135	0.007576	0.05	923.43	75	chr5	177332169	.	C	T	923.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.663;DP=399;ExcessHet=0;FS=1.891;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.31;ReadPosRankSum=1.57;SOR=0.954	GT:AD:DP:GQ:PL	0/1:34,41:75:99:935,0,803	9	0	1	0
chr5	181224202	181224202	G	C	exonic	TRIM41	.	nonsynonymous SNV	TRIM41:NM_033549:exon1:c.G203C:p.G68A,TRIM41:NM_201627:exon1:c.G203C:p.G68A	.	367	1147	8	0	0	8	0.00347524	.	.	.	3617753	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.030	0.0106345173278	7.7e-05	.	0.0001	0	0.0003	0	0	9.005e-05	0.0022	0.0002	0.0001552	24	154602	rs373135410	0.0001	0.0001	0.0001	0.0001	0.0007	0.0001	0.0001	0.0003	0.0002	5.978e-05	0.0004	0.0007	0	0	0.0007	8.455e-05	0.0003	0.0004	6.597e-05	6.578e-05	5.159e-05	8.102e-05	0.0001	3.53e-05	2.626e-05	2.27e-05	1.126e-05	2.425e-05	0	0.0001	0.0009	0	0	0	5.893e-05	0	0	0.543	0.21801	T	0.287	0.21210	T	0.0	0.02946	B	0.0	0.06944	B	0.891188	0.07296	N	1.075720	1	0.08975	N	0.69	0.16971	N	0.96	0.53302	T	-0.56	0.17834	N	0.17	0.19861	-1.0331	0.19459	T	0.060	0.25273	T	10	0.020757645	0.00484	T	0.010635	0.27388	T	0.030	0.07022	.	.	0.330666884367	0.32679	0.20777805653411763	0.20693	0.46112784952	0.45662	0.460249185562	0.33344	T	0.00583	0.05277	T	-0.21442	0.18760	T	-0.545776	0.17733	T	0.0365745412151122	0.03081	T	0.377362	0.15048	T	0.039153162	0.05353	0.06378279	0.12685	0.039153162	0.05352	0.06378279	0.12684	-4.737	0.33848	T	.	.	0.091	0.12985	B	.;.	.;.	1.163557	0.15528	11.92	0.97159027317968194	0.32620	0.06011	0.11976	N	AEFDGBHIJ	0.051196	0.09022	N	-1.09228090239247	0.06784	0.3133192	-1.02419746798591	0.09254	0.4593553	0.999999996496839	0.74766	0.542737	0.22433	0	0.52208	0.09955	0	0.685571	0.62057	0	0.372554	0.06265	0	.	.	4.75	1.68	0.23219	0.217000	0.17389	0.759000	0.21299	-0.508000	0.05005	0.055000	0.21596	0.091000	0.22535	0.547000	0.30103	0.0:0.3053:0.5377:0.157	8.848	0.34340	.	.	.;Zinc finger, RING-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	0.001007	0.000000	0.001359	0.000000	0.000000	0.000000	0.003049	0.000000	0.05	841.43	83	chr5	181224202	.	G	C	841.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.102;DP=396;ExcessHet=0;FS=5.769;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.14;ReadPosRankSum=-0.945;SOR=0.313	GT:AD:DP:GQ:PL	0/1:51,32:83:99:853,0,1567	9	0	1	0
chr6	19838155	19838155	C	T	exonic	ID4	.	nonsynonymous SNV	ID4:NM_001546:exon1:c.C401T:p.A134V	.	422	1097	2	1	0	4	0.00181984	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.231	0.799026717674	.	.	0.0010	0	0.0018	0	0	9.053e-05	0	0.0029	0.0002264	35	154602	rs755277892	0.0001	0.0001	7.79e-05	0.0002	0.0020	0.0001	0.0001	0.0017	0.0016	0	3.049e-05	4.283e-05	0	0	0.0017	1.032e-05	0.0001	0.0020	4.604e-05	4.594e-05	1.287e-05	8.072e-05	0.0014	2.111e-05	1.528e-05	0.0007	0.0005	0	0	0	0	0	0	0	0	0	0.0014	0.156	0.24090	T	0.239	0.24477	T	0.416	0.35222	B	0.078	0.28627	B	0.114996	0.19252	N	0.486248	0.685816	0.30237	N	1.245	0.31408	L	-1.15	0.77964	T	-1.19	0.30346	N	0.073	0.04668	-1.0585	0.12134	T	0.087	0.33634	T	9	0.025958866	0.00775	T	0.799027	0.98426	D	0.231	0.53208	0.065	0.00293	0.774559073603	0.77248	0.4953486265445007	0.49455	0.615504475443	0.56028	0.905481100082	0.97025	D	0.234726	0.60181	T	-0.416534	0.01800	T	-0.377575	0.36006	T	0.0279389254958791	0.01680	T	0.684632	0.29288	T	0.08812124	0.20546	0.11761489	0.28392	0.08812124	0.20546	0.11761489	0.28391	-5.395	0.40871	T	.	.	0.084	0.09723	B	.	.	2.449039	0.31530	18.77	0.98917925076401569	0.48509	0.13120	0.17674	N	AEFDBCIJ	0.205395	0.33175	N	-0.658182930012867	0.17222	0.8843883	-0.640591711649924	0.18455	0.985923	0.999964466147213	0.48965	0.652421	0.48094	0	0.59043	0.45803	0	0.64067	0.45733	0	0.554799	0.18163	0	.	.	2.58	1.54	0.22290	0.104000	0.15148	1.573000	0.27428	0.443000	0.21123	0.067000	0.21986	1.000000	0.68203	0.879000	0.42020	0.0:0.7924:0.2076:0.0	9.939	0.40739	865	0.32612	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1	2345.14	71	chr6	19838155	.	C	T	2345.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=2.92;DP=429;ExcessHet=0.2348;FS=0.713;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=16.17;ReadPosRankSum=0.602;SOR=0.573	GT:AD:DP:GQ:PL	0/1:33,38:71:99:1164,0,799	8	0	2	0
chr6	25580959	25580959	C	G	exonic	CARMIL1	.	nonsynonymous SNV	CARMIL1:NM_001173977:exon30:c.C2778G:p.S926R,CARMIL1:NM_017640:exon30:c.C2778G:p.S926R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.176	0.0214777814306	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.38e-06	1.368e-06	1.37e-06	1.39e-06	9.046e-07	2.3e-07	9e-08	.	.	0	0	0	0	0	0	9.046e-07	1.667e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.058	0.37750	T	0.598	0.07999	T	0.999	0.77913	D	0.959	0.70163	D	0.000000	0.84330	D	0.081104	0.999808	0.49283	D	.	.	.	0.55	0.54728	T	-1.75	0.41428	N	0.575	0.59732	-0.8083	0.54653	T	0.191	0.54257	T	10	0.44539222	0.58363	T	0.021478	0.44254	T	0.176	0.44373	0.286	0.24440	0.228066490088	0.22430	0.7141406738161654	0.71357	0.918591870211	0.71354	0.808049142361	0.83194	D	0.037779	0.24600	T	0.0931848	0.63544	D	-0.103923	0.63091	T	0.893489062786102	0.54472	D	0.965403	0.87236	D	0.3057898	0.53419	0.3007387	0.56107	0.3057898	0.53419	0.3007387	0.56106	-5.337	0.40308	T	.	.	0.976	0.90308	P	.	.	3.656580	0.51924	23.2	0.99833426540829173	0.91456	0.93971	0.59726	D	AEFDBI	0.361236	0.45092	N	0.532743395608792	0.69038	5.300607	0.534542034820933	0.70328	5.48928	0.948713136493689	0.27813	0.706298	0.61202	0	0.588066	0.40923	0	0.709663	0.75317	0	0.564101	0.26826	0	.	.	5.78	4.8	0.61157	0.881000	0.27811	1.069000	0.23788	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.964000	0.52637	0.0:0.8562:0.0:0.1438	10.39	0.43346	606	0.67383	CARMIL, 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	0.000504	0.000000	0.000000	0.005848	0.000000	0.000000	0.000000	0.000000	0.05	1111.43	94	chr6	25580959	.	C	G	1111.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.357;DP=404;ExcessHet=0;FS=5.125;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.82;ReadPosRankSum=-0.322;SOR=1.13	GT:AD:DP:GQ:PL	0/1:49,45:94:99:1123,0,1212	9	0	1	0
chr6	26056347	26056347	C	T	exonic	H1-2	.	nonsynonymous SNV	H1-2:NM_005319:exon1:c.G82A:p.A28T	.	432	1079	11	0	0	11	0.00507146	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.034	0.00220051817089	0.0015	0.00159744	0.0017	0.0002	0.0006	0.0010	0	0.0017	0.0078	0.0044	0.0015912	246	154602	rs75040909	0.0013	0.0013	0.0012	0.0015	0.0073	0.0013	0.0013	0.0055	0.0049	0.0003	0.0015	0.0061	0.0006	0	0.0073	0.0010	0.0021	0.0045	0.0012	0.0012	0.0008	0.0015	0.0050	0.0010	0.0010	0.0034	0.0029	0.0002	0	0.0029	0.0058	0.0021	0	0	0.0010	0.0014	0.0050	0.093	0.31532	T	0.137	0.33894	T	0.012	0.16265	B	0.012	0.16012	B	0.768963	0.09563	N	0.899617	1	0.08975	N	1.375	0.34280	L	2.6	0.13204	T	-1.05	0.27463	N	0.234	0.26354	-0.9373	0.43041	T	0.007	0.02558	T	10	0.0034153163	0.00060	T	0.002201	0.04151	T	0.034	0.08419	.	.	0.124217242631	0.12060	0.23959596280641896	0.23873	.	.	0.304101377726	0.11016	T	0.312429	0.68424	T	-0.560002	0.00254	T	-0.577051	0.14809	T	0.00880658728544199	0.00109	T	0.433957	0.11861	T	0.057834122	0.11560	0.09537495	0.22617	0.057834122	0.11559	0.09537495	0.22616	-5.49	0.41775	T	.	.	0.069	0.02960	B	.	.	0.157627	0.05486	1.953	0.94215858706184186	0.24461	0.00410	0.02037	N	ALL	0.159887	0.28575	N	-1.38377965976654	0.02790	0.1236884	-1.36364405420768	0.03647	0.1705848	1.0	0.98316	0.441713	0.08003	0	0.52208	0.09955	0	0.519653	0.09787	0	0.372554	0.06265	0	.	.	5.64	-1.79	0.07504	-0.153000	0.10130	-0.242000	0.10582	-0.821000	0.02958	0.001000	0.13787	0.003000	0.18671	0.000000	0.00833	0.0767:0.718:0.2052:0.0	14.715	0.68874	454	0.79125	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	558.43	46	chr6	26056347	.	C	T	558.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.68;DP=377;ExcessHet=0;FS=2.512;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.14;ReadPosRankSum=0.832;SOR=1.127	GT:AD:DP:GQ:PL	0/1:26,20:46:99:570,0,705	9	0	1	0
chr6	26405959	26405959	G	A	exonic	BTN3A1	.	nonsynonymous SNV	BTN3A1:NM_001145008:exon3:c.G136A:p.E46K,BTN3A1:NM_001145009:exon3:c.G136A:p.E46K,BTN3A1:NM_007048:exon3:c.G136A:p.E46K,BTN3A1:NM_194441:exon3:c.G136A:p.E46K	.	425	1091	6	0	0	6	0.00274223	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.030	.	.	0.00179712	0.0017	0	0.0002	0.0002	0	6.02e-05	0.0011	0.0123	0.0014424	223	154602	rs564000550	0.0009	0.0009	0.0005	0.0013	0.0142	0.0009	0.0008	0.0136	0.0133	0	2.35e-05	0	0.0001	0	0.0009	2.616e-05	0.0009	0.0142	0.0004	0.0004	0.0002	0.0005	0.0104	0.0003	0.0003	0.0081	0.0073	4.826e-05	0	0	0	0.0002	0	0.0034	4.41e-05	0	0.0104	0.364	0.42487	T	0.007	0.70582	D	0.068	0.26641	B	0.064	0.29270	B	.	.	.	.	1	0.08975	N	1.76	0.45711	L	4.04	0.03121	T	-1.87	0.60827	N	0.112	0.20129	-0.9912	0.32295	T	0.010	0.03856	T	9	0.006637186	0.00150	T	.	.	.	0.030	0.07022	.	.	0.263140351381	0.25927	0.5319193161700891	0.53116	0.646648351517	0.58073	0.386672407389	0.23199	T	0.006097	0.05539	T	-0.577029	0.00201	T	-0.590607	0.13614	T	0.036023576240025	0.02985	T	0.890711	0.67446	D	0.11151186	0.26351	0.07448187	0.16297	0.11151186	0.26350	0.07448187	0.16297	-6.86	0.53447	T	.	.	0.093	0.21950	B	.;.;.;.;.;.	.;.;.;.;.;.	1.516559	0.19477	14.28	0.99689232570207986	0.79842	0.03079	0.07995	N	AEFBI	0.059188	0.11158	N	-0.876245709188363	0.11410	0.5504432	-1.02213968921651	0.09299	0.4618472	0.999448181620557	0.39736	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.683762	0.67416	0	.	.	2.21	-1.02	0.09618	0.561000	0.23220	0.418000	0.18188	-0.117000	0.14459	0.000000	0.06391	0.000000	0.08366	0.596000	0.31288	0.3356:0.0:0.4086:0.2558	2.072	0.03396	684	0.59539	.;Immunoglobulin V-set domain|Immunoglobulin-like domain|Immunoglobulin subtype;Immunoglobulin V-set 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	0.001742	0.000000	0.000000	0.013158	0.000000	0.000000	0.000000	0.008197	0.05	3974.43	339	chr6	26405959	.	G	A	3974.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.768;DP=1154;ExcessHet=0;FS=5.574;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=54.15;MQRankSum=-2.206;QD=11.72;ReadPosRankSum=1.36;SOR=0.962	GT:AD:DP:GQ:PL	0/1:181,158:339:99:3986,0,4577	9	0	1	0
chr6	27310582	27310582	G	A	exonic	POM121L2	.	nonsynonymous SNV	POM121L2:NM_033482:exon1:c.C1589T:p.A530V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.037	0.00457380117422	.	.	.	.	.	.	.	.	.	.	.	.	.	rs931459915	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.65419	D	0.025	0.56192	D	.	.	.	.	.	.	0.055521	0.22635	N	0.224693	0.852663	0.28474	N	1.385	0.34509	L	1.94	0.22678	T	-2.33	0.51646	N	0.033	0.00882	-1.0093	0.27136	T	0.021	0.08917	T	10	0.06081772	0.07530	T	0.004574	0.11283	T	0.037	0.09474	0.228	0.15406	0.0401082797425	0.02173	0.28922171704253374	0.28835	.	.	0.254709690809	0.04280	T	0.016631	0.13711	T	-0.321687	0.06761	T	-0.699857	0.05834	T	0.437501043081284	0.30337	T	0.454055	0.12934	T	0.08149508	0.18729	0.12834299	0.30879	0.08149508	0.18729	0.12834299	0.30878	-3.999	0.23789	T	.	.	0.122	0.25364	B	.	.	1.722228	0.21927	15.41	0.99824631958357912	0.90677	0.35993	0.25431	N	AEFDBI	0.065033	0.12662	N	-0.709333535591486	0.15758	0.7970068	-0.707749686166026	0.16767	0.8885786	0.00176535619173559	0.08861	0.516011	0.20929	0	0.610034	0.51514	0	0.563428	0.18855	0	0.530356	0.10902	0	.	.	4.41	2.64	0.30504	1.255000	0.32512	1.631000	0.27739	-0.186000	0.09761	0.088000	0.22533	0.006000	0.19429	0.249000	0.23237	0.2046:0.0:0.7954:0.0	7.159	0.24831	624	0.65661	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3571	438.25	75	chr6	27310582	.	G	A	438.25	.	AC=5;AF=0.357;AN=14;BaseQRankSum=-3.12;DP=778;ExcessHet=2.8389;FS=220.933;InbreedingCoeff=-0.4801;MLEAC=6;MLEAF=0.429;MQ=60;MQRankSum=0;QD=1.04;ReadPosRankSum=0.511;SOR=9.641	GT:AD:DP:GQ:PL	0/1:56,19:75:19:19,0,1140	2	0	5	3
chr6	28301734	28301734	A	G	exonic	PGBD1	.	nonsynonymous SNV	PGBD1:NM_001184743:exon7:c.A1880G:p.D627G,PGBD1:NM_032507:exon7:c.A1880G:p.D627G	.	421	1100	1	0	0	1	0.000454339	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.339	0.00648496979473	0.0002	.	9.062e-05	0	8.649e-05	0.0005	0	5.993e-05	0.0011	6.056e-05	7.12e-05	11	154602	rs141087060	2.599e-05	2.599e-05	2.178e-05	3.025e-05	0.0007	1.932e-05	1.692e-05	0.0002	0.0001	0	8.944e-05	0	0.0003	0	0.0007	1.079e-05	3.312e-05	5.797e-05	1.313e-05	1.312e-05	1.285e-05	1.343e-05	0.0002	2.18e-06	8.2e-07	.	.	2.406e-05	0	0	0	0.0002	0	0	0	0	0	0.004	0.65419	D	0.002	0.79402	D	1.0	0.90584	D	0.998	0.88582	D	0.004272	0.33923	N	0.099543	0.928	0.27119	N	3.145	0.88303	M	1.88	0.23884	T	-4.89	0.81431	D	0.469	0.50508	-1.0591	0.11981	T	0.079	0.31314	T	10	0.36909407	0.53333	T	0.006485	0.17072	T	0.339	0.66106	.	.	0.357929162469	0.35400	0.7276541486219065	0.72709	.	.	0.447443157434	0.31595	T	0.068658	0.33512	T	-0.00409573	0.51089	T	0.07635	0.75334	D	0.660823225975037	0.38932	D	0.859714	0.55187	D	0.46073937	0.64717	0.5495943	0.73959	0.46073937	0.64717	0.5495943	0.73959	-4.023	0.24147	T	.	.	0.131	0.28086	B	.	.	4.174871	0.62805	24.5	0.99679153442928836	0.79108	0.83842	0.42935	D	AEFGBI	0.238621	0.36071	N	0.515738277049854	0.68021	5.160037	0.440793192140609	0.64127	4.660955	0.1833473439248	0.17902	0.651	0.46895	0	0.588066	0.40923	0	0.65145	0.50148	0	0.635551	0.53088	0	.	.	4.66	3.5	0.39181	3.422000	0.52509	5.039000	0.46894	0.756000	0.94297	1.000000	0.71638	0.582000	0.25626	0.999000	0.91618	0.8979:0.0:0.1021:0.0	7.017	0.24071	531	0.73574	PiggyBac transposable element-derived protein	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.05	2192.43	168	chr6	28301734	.	A	G	2192.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.757;DP=941;ExcessHet=0;FS=1.197;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.05;ReadPosRankSum=-1.286;SOR=0.801	GT:AD:DP:GQ:PL	0/1:88,80:168:99:2204,0,2412	9	0	1	0
chr6	29440023	29440023	C	A	exonic	OR10C1	.	nonsynonymous SNV	OR10C1:NM_013941:exon1:c.C8A:p.A3E	.	429	1081	12	0	0	12	0.00551978	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025	.	0.0055	0.0071885	0.0119	0.0017	0.0729	0.0002	0.0020	0.0052	0.0057	0.0110	0.0112353	1737	154602	rs151242842	0.0067	0.0067	0.0069	0.0066	0.0708	0.0066	0.0066	0.0687	0.0679	0.0012	0.0708	0.0204	5.038e-05	0.0020	0.0021	0.0042	0.0069	0.0104	0.0093	0.0093	0.0085	0.0100	0.0530	0.0089	0.0087	0.0500	0.0487	0.0018	0	0.0530	0.0193	0.0004	0.0027	0	0.0054	0.0071	0.0097	0.673	0.04521	T	.	.	.	0.001	0.07471	B	0.002	0.06944	B	0.839454	0.06990	N	1.122610	1	0.08975	N	-0.35	0.03145	N	2.53	0.14038	T	1.31	0.00936	N	.	.	-0.9396	0.42679	T	0.003	0.01092	T	10	0.0028084517	0.00044	T	.	.	.	0.025	0.05312	.	.	.	.	0.20490289864576475	0.20407	0.392072762019	0.40400	0.224260225892	0.01570	T	7.94E-4	0.00383	T	-0.660031	0.00063	T	-0.665793	0.07881	T	0.0159267295419786	0.00376	T	.	.	.	0.030308215	0.02671	0.08204786	0.18695	0.030308215	0.02671	0.08204786	0.18694	-2.786	0.08055	T	.	.	0.085	0.15609	B	.;.	.;.	0.548062	0.09168	5.949	0.86626179963557293	0.16663	0.02594	0.07157	N	AEFBI	0.039787	0.05827	N	-1.37168599175421	0.02906	0.1290484	-1.29415926247398	0.04509	0.2128357	3.4293503144431E-5	0.03775	0.487112	0.14033	0	0.563428	0.19063	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	3.27	2.37	0.28337	-1.388000	0.02638	.	.	-0.469000	0.05095	0.000000	0.06391	0.000000	0.08366	0.371000	0.26133	0.2075:0.6793:0.0:0.1132	5.150	0.14333	819	0.41190	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003268	0.005051	0.001359	0.015957	0.000000	0.000000	0.000000	0.000000	0.05	1170.43	77	chr6	29440023	.	C	A	1170.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.26;DP=412;ExcessHet=0;FS=0.913;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=15.2;ReadPosRankSum=-0.382;SOR=0.852	GT:AD:DP:GQ:PL	0/1:38,39:77:99:1182,0,1054	9	0	1	0
chr6	29942948	29942948	C	0	exonic	HLA-A	.	.	.	.	4	962	413	52	91	608	0.211798	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1111	1452.34	107	chr6	29942948	.	C	*	1452.34	.	AC=2;AF=0.111;AN=18;BaseQRankSum=1.5;DP=904;ExcessHet=0.7463;FS=13.851;InbreedingCoeff=-0.2121;MLEAC=2;MLEAF=0.111;MQ=58.94;MQRankSum=-1.391;QD=4.78;ReadPosRankSum=1.72;SOR=1.411	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:85,22:107:99:0|1:29942911_A_G:668,0,3503:29942911	7	0	2	1
chr6	29942984	29942984	G	0	exonic	HLA-A	.	.	.	.	21	460	694	307	40	1348	0.587074	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05556	15217.6	85	chr6	29942984	.	G	*	15217.6	.	AC=1;AF=0.056;AN=18;BaseQRankSum=-0.174;DP=737;ExcessHet=1.0516;FS=0.566;InbreedingCoeff=-0.1253;MLEAC=1;MLEAF=0.056;MQ=59.65;MQRankSum=0;QD=26.47;ReadPosRankSum=-0.689;SOR=0.635	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:71,14:85:99:0|1:29942911_A_G:374,0,2939:29942911	8	0	1	1
chr6	29942985	29942985	A	0	exonic	HLA-A	.	.	.	.	8	1279	183	12	40	247	0.0748644	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	632.59	85	chr6	29942985	.	A	*	632.59	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.24;DP=648;ExcessHet=0.2348;FS=11.292;InbreedingCoeff=-0.2121;MLEAC=1;MLEAF=0.071;MQ=57.51;MQRankSum=0.895;QD=4.72;ReadPosRankSum=-1.731;SOR=1.676	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:71,14:85:99:0|1:29942911_A_G:374,0,2939:29942911	6	0	1	3
chr6	29944308	29944308	C	T	exonic	HLA-A	.	nonsynonymous SNV	HLA-A:NM_001242758:exon4:c.C806T:p.A269V,HLA-A:NM_002116:exon4:c.C806T:p.A269V	.	3	1389	128	2	0	132	0.0453608	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.081	.	.	.	0.0410	0.0786	0.0841	0.0011	0.0347	0.0310	0.0497	0.0527	0.0001921	5	26028	rs148794540	0.0013	0.0063	0.0011	0.0015	0.0041	0.0012	0.0012	0.0037	0.0036	0.0021	0.0033	0.0010	5.875e-05	0.0023	0.0004	0.0009	0.0015	0.0041	0.0010	0.0057	0.0012	0.0008	0.0021	0.0009	0.0008	0.0016	0.0015	0.0021	0	0.0012	0.0016	0.0003	0.0004	0	0.0006	0.0023	0.0003	0.028	0.46129	D	0.041	0.50809	D	0.029	0.90584	B	0.02	0.84481	B	0.021307	0.26859	N	0.171004	0.944011	0.26704	N	.	.	.	4.18	0.02743	T	-2.33	0.54059	N	0.085	0.09631	-1.0492	0.14621	T	0.013	0.04890	T	10	0.0030664504	0.00051	T	.	.	.	0.081	0.23632	.	.	.	.	0.09802837896223301	0.09733	0.832682807749	0.67689	0.369983077049	0.20830	T	0.026582	0.19643	T	-0.179179	0.23858	T	-0.495155	0.22852	T	0.0270032397942615	0.01544	T	0.347765	0.07665	T	0.39151996	0.60140	0.24605103	0.50105	0.39151996	0.60140	0.24605103	0.50104	-8.43	0.63965	D	.	.	0.158	0.35034	B	.;.;.;.;.	.;.;.;.;.	2.278150	0.29126	18.02	0.89634627430455549	0.18967	0.11996	0.16994	N	AEFGBCI	0.290915	0.40218	N	-0.149922629522064	0.35236	2.02149	-0.167087891439065	0.32757	1.866744	0.999999942386165	0.74766	0.67177	0.52595	0	0.685571	0.66316	0	0.643519	0.47002	0	0.711	0.71501	0	.	.	3.69	3.69	0.41483	-0.929000	0.04084	.	.	0.429000	0.20894	0.000000	0.06391	0.000000	0.08366	0.232000	0.22788	0.0:1.0:0.0:0.0	11.152	0.47687	862	0.33134	Immunoglobulin C1-set|Immunoglobulin-like domain|Immunoglobulin C1-set;Immunoglobulin C1-set|Immunoglobulin-like domain|Immunoglobulin C1-set;Immunoglobulin C1-set|Immunoglobulin-like domain|Immunoglobulin C1-set;Immunoglobulin C1-set|Immunoglobulin-like domain|Immunoglobulin C1-set;Immunoglobulin C1-set|Immunoglobulin-like domain|Immunoglobulin C1-set	.	.	.	.	rs148794540	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.062092	0.075758	0.065217	0.069149	0.050000	0.034483	0.048780	0.079545	0.1	3135.14	129	chr6	29944308	.	C	T	3135.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=0.888;DP=1223;ExcessHet=0.2348;FS=0.455;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=43.83;MQRankSum=0.115;QD=10.92;ReadPosRankSum=0.361;SOR=0.653	GT:AD:DP:GQ:PL	0/1:85,44:129:99:1396,0,3350	8	0	2	0
chr6	31028378	31028407	GAGACCACCACAGCCTCTACTGAAGGCTCC	-	exonic	MUC22	.	nonframeshift deletion	MUC22:NM_001198815:exon3:c.2947_2976del:p.T996_T1005del,MUC22:NM_001318484:exon3:c.2956_2985del:p.T999_T1008del,MUC22:NM_001322469:exon3:c.2956_2985del:p.T999_G1777delinsSASTTGSETTTASTTSSETTMASIMGSETTMASTIGSETTKVSTASSKMTTVFTENSETTIASTTASETTTVSTAGSETIPASTAGSETTTTTSTEGSETTTASTEGSETTTASTESSETTTATTIGSETTTASTEGSETTTTSTEGSETTTASTEGSEITTVSTTGSETTTASTEGSETTTASTEGSELTTVSTTGSETITVSAEGSETTTVTTMGSETTTASTAGSETTTVSTAGSETTTASIEGSETTTVSSTGSETTTVSTTGTETTITSTEGSETTTVTTAGSETTAVYTTGSETTTTSTEGSETTTVSTTGSETTTASTADLETTTVSTSGSGTTTASTAGSETTTVYITGSKTTTASTEGSEATTVSTTSSETTTASTTGSEMTTVFTTVSETTTVSTIGSEATTSSAAGSEATTTSTEGSETTTASTAGSETTTASTAGSETTTASTAGSETTTASTSGSETNTACTTGSETSTPSSAGSETNTAFIIGSETTIASTASLEPTATSLTGSETTTVSITASGATAASTTVSSTTFVLTKATDVSIQPITNTPMSGTRTTGTRLTASSSVTMAPGMDFTASAASHTVPGIVLNTSGLGTSTMGASSTTSAHGVRTTTGSTREPTSSTFQETGPVSMGTNTVSMSHTPTNVIKPSGYLQPWAIILISLAAVVAAVGLSVGLSFCLRNLFFPLRYCGIYYPHGHSHSLGLDLNLGLGSGTFHSLGNALVHGGELEMGHGGTHGFGYGVGHGLSHIHGDGYGVNHGGHYGHGGGH*	.	421	1076	24	0	1	25	0.0110294	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0151	0.0106	0.0217	0.0746	.	0	0	0.0197	0.0001153	3	26028	rs200838925	0.0052	0.0050	0.0041	0.0062	0.0383	0.0051	0.0050	0.0371	0.0367	0.0188	0.0020	0.0004	0.0362	0.0027	0.0141	0.0014	0.0075	0.0383	0.0091	0.0098	0.0082	0.0100	0.0543	0.0087	0.0085	0.0490	0.0470	0.0173	0.0044	0.0036	0	0.0543	0.0018	0.0141	0.0018	0.0086	0.0348	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.15	23834.4	701	chr6	31028377	.	TGAGACCACCACAGCCTCTACTGAAGGCTCC	T	23834.4	.	AC=3;AF=0.15;AN=20;BaseQRankSum=0.988;DP=5966;ExcessHet=0.7463;FS=0.53;InbreedingCoeff=-0.1765;MLEAC=3;MLEAF=0.15;MQ=59.87;MQRankSum=0.834;QD=12.31;ReadPosRankSum=1.35;SOR=0.659	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:408,291:701:99:.:.:10106,0,15148:.	7	0	3	0
chr6	31271103	31271103	C	T	exonic	HLA-C	.	nonsynonymous SNV	HLA-C:NM_001243042:exon3:c.G589A:p.E197K,HLA-C:NM_002117:exon3:c.G589A:p.E197K	.	0	1403	119	0	0	119	0.0406838	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.156	.	.	.	0.1110	0.0746	0.0941	0.2012	0.1819	0.1147	0.0891	0.0572	0.0917647	14187	154602	rs1050357	0.0006	0.0078	0.0006	0.0006	0.0026	0.0005	0.0005	0.0020	0.0018	0.0003	0.0009	0.0002	0.0026	0.0004	0	0.0005	0.0004	0.0012	0.0003	0.0092	0.0002	0.0003	0.0004	0.0002	0.0001	0.0002	0.0002	0.0001	0	0	0	0	0.0002	0	0.0004	0	0	0.093	0.31532	T	0.02	0.59159	D	0.002	0.09854	B	0.006	0.12133	B	0.789762	0.09406	U	0.857122	0.426676	0.32312	P	.	.	.	5.6	0.00825	T	-3.04	0.63782	D	0.031	0.01004	-0.3665	0.73068	T	0.302	0.67297	T	9	0.0043652654	0.00089	T	.	.	.	0.227	0.52620	.	.	.	.	0.223966816434011	0.22311	0.55958892267	0.52497	0.365928024054	0.20246	T	0.015762	0.13159	T	-0.5327	0.00370	T	-0.394143	0.34067	T	0.0614167510250327	0.07389	T	0.586841	0.21439	T	.	.	.	.	.	.	.	.	-6.911	0.53380	T	.	.	0.143	0.35225	B	.;.;.	.;.;.	2.220269	0.28336	17.76	0.92642286042257171	0.22116	0.17864	0.20020	N	AEFBHCI	0.275676	0.39058	N	-0.179300595314162	0.33997	1.935281	-0.334977477670174	0.26977	1.493829	0.99999999125913	0.74766	0.766844	0.99359	0	0.672317	0.65289	0	0.851219	0.99655	0	0.638787	0.57140	0	.	.	2.71	2.71	0.31092	-0.711000	0.05121	.	.	-1.944000	0.00489	0.000000	0.06391	0.000000	0.08366	0.013000	0.09966	0.0:1.0:0.0:0.0	11.543	0.49932	934	0.15400	MHC class I-like antigen recognition-like|MHC class I alpha chain, alpha1 alpha2 domains;MHC class I-like antigen recognition-like|MHC class I alpha chain, alpha1 alpha2 domains;MHC class I-like antigen recognition-like|MHC class I alpha chain, alpha1 alpha2 domains	.	.	.	.	rs145793920	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.026998	0.005051	0.021739	0.024272	0.000000	0.043103	0.045732	0.041667	0.1	4508.14	158	chr6	31271103	.	C	T	4508.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=0.759;DP=1269;ExcessHet=0.2348;FS=2.605;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=53.03;MQRankSum=1.28;QD=14.54;ReadPosRankSum=0.485;SOR=0.538	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:72,86:158:99:0|1:31271098_G_A:3363,0,2701:31271098	8	0	2	0
chr6	31355338	31355338	T	C	exonic	HLA-B	.	nonsynonymous SNV	HLA-B:NM_005514:exon4:c.A874G:p.K292E	.	1	1059	462	0	0	462	0.17907	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.023	.	.	.	0.1873	0.2102	0.1521	0.2285	0.1750	0.1708	0.2005	0.2469	0.0006531	17	26028	rs41541515	1.925e-05	0.0003	1.916e-05	1.935e-05	6.078e-05	1.335e-05	1.149e-05	1.006e-05	3.76e-06	6.078e-05	0	0.0005	0	0	0	9.027e-06	3.34e-05	2.33e-05	6.22e-05	0.0011	8.537e-05	3.706e-05	7.636e-05	2.881e-05	2.058e-05	1.414e-05	6.92e-06	7.636e-05	0	0	0.0003	0	0.0001	0	5.327e-05	0	0	0.277	0.15665	T	1.0	0.01155	T	0.0	0.02946	B	0.002	0.06944	B	0.026571	0.25897	N	0.181463	0.999999	0.08975	N	.	.	.	2.69	0.12268	T	1.44	0.00794	N	0.014	0.00160	-0.9487	0.41194	T	0.003	0.00800	T	10	0.0029622018	0.00048	T	.	.	.	0.023	0.04649	.	.	.	.	0.09070377229671633	0.09003	0.307519446834	0.33047	.	.	.	0.030329	0.21526	T	-0.267069	0.12086	T	-0.621403	0.11076	T	0.00635520461095454	0.00071	T	0.121988	0.02209	T	0.23476017	0.46301	0.11296048	0.27259	0.23476017	0.46301	0.11296048	0.27258	2.737	0.00027	T	.	.	0.051	0.01328	B	.;.;.;.	.;.;.;.	-0.115766	0.03549	0.681	0.33208941956949856	0.01966	0.00329	0.01719	N	AEFDBHCI	0.042199	0.06517	N	-1.61921237088875	0.01172	0.05092742	-1.59245928361148	0.01701	0.07728939	0.99999239206602	0.74766	0.634777	0.41761	0	0.672317	0.65289	0	0.643519	0.47002	0	0.530356	0.10902	0	.	.	3.16	-1.11	0.09336	-2.713000	0.00887	.	.	-1.064000	0.01611	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.0:0.5345:0.1577:0.3077	4.780	0.12569	934	0.15400	.;Immunoglobulin-like domain|Immunoglobulin C1-set;Immunoglobulin-like domain|Immunoglobulin C1-set;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.220557	0.202020	0.191576	0.234234	0.150000	0.250000	0.253049	0.268939	0.2	1482.57	199	chr6	31355338	.	T	C	1482.57	.	AC=4;AF=0.2;AN=20;BaseQRankSum=-3.315;DP=1447;ExcessHet=1.5895;FS=10.624;InbreedingCoeff=-0.25;MLEAC=4;MLEAF=0.2;MQ=57.63;MQRankSum=-10.92;QD=2.32;ReadPosRankSum=-0.008;SOR=1.286	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:150,49:199:99:.:.:823,0,4617:.	6	0	4	0
chr6	31355425	31355425	T	C	exonic	HLA-B	.	nonsynonymous SNV	HLA-B:NM_005514:exon4:c.A787G:p.R263G	.	0	927	595	0	0	595	0.242956	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.070	.	.	.	0.2427	0.2221	0.2151	0.2593	0.1977	0.2427	0.2413	0.2835	3.84e-05	1	26028	rs41545916	6.978e-05	0.0017	7.287e-05	6.665e-05	0.0004	5.837e-05	5.445e-05	6.35e-05	2.683e-05	6.07e-05	6.798e-05	0.0015	0	0	0.0004	3.628e-05	0.0001	8.195e-05	0.0003	0.0048	0.0004	0.0002	0.0003	0.0002	0.0002	0.0002	0.0002	0.0003	0	0.0003	0.0011	0.0003	0	0	0.0003	0.0007	0	1.0	0.00964	T	1.0	0.01155	T	0.001	0.07471	B	0.001	0.04355	B	0.017476	0.27716	N	0.165679	0.986046	0.24654	N	.	.	.	4.34	0.02341	T	3.3	0.00105	N	0.051	0.02272	-1.0151	0.25304	T	0.000	0.00114	T	10	0.0015430152	0.00017	T	.	.	.	0.070	0.20419	.	.	.	.	0.3942460569328166	0.39339	0.283348990526	0.30779	.	.	.	0.019855	0.15737	T	-0.268638	0.11909	T	-0.623656	0.10901	T	0.00166754910760778	0.00017	T	0.446155	0.12501	T	0.3324303	0.55668	0.11348576	0.27388	0.3324303	0.55669	0.11348576	0.27388	2.773	0.00026	T	.	.	0.034	0.00010	B	.;.	.;.	0.246319	0.06261	2.715	0.81034162823799205	0.13487	0.00542	0.02495	N	AEFDBHCI	0.071522	0.14241	N	-1.65128738568244	0.01029	0.04464861	-1.46518231632646	0.02636	0.1215648	0.999996036317984	0.74766	0.634777	0.41761	0	0.672317	0.65289	0	0.643519	0.47002	0	0.663205	0.64265	0	.	.	3.16	1.33	0.20958	1.006000	0.29449	.	.	-1.096000	0.01523	0.050000	0.21411	0.000000	0.08366	0.043000	0.14563	0.0:0.778:0.0:0.222	7.857	0.28649	934	0.15400	Immunoglobulin C1-set|Immunoglobulin-like domain|Immunoglobulin C1-set;Immunoglobulin C1-set|Immunoglobulin-like domain|Immunoglobulin C1-set	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.260000	0.227273	0.254076	0.257426	0.150000	0.267241	0.246951	0.265152	0.35	2550.97	236	chr6	31355425	.	T	C	2550.97	.	AC=7;AF=0.35;AN=20;BaseQRankSum=-0.577;DP=1787;ExcessHet=7.0302;FS=23.246;InbreedingCoeff=-0.5388;MLEAC=7;MLEAF=0.35;MQ=57.89;MQRankSum=-12.93;QD=1.95;ReadPosRankSum=-0.449;SOR=1.849	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:198,38:236:99:.:.:422,0,6341:.	3	0	7	0
chr6	31356197	31356197	C	T	exonic	HLA-B	.	nonsynonymous SNV	HLA-B:NM_005514:exon3:c.G589A:p.E197K	.	8	1465	49	0	0	49	0.0164485	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.165	.	.	.	0.0189	0.0129	0.0199	0.0348	0.0234	0.0147	0.0177	0.0294	3.84e-05	1	26028	rs41545114	0.0004	0.0031	0.0003	0.0004	0.0014	0.0003	0.0003	0.0011	0.0010	0.0002	0.0014	0.0001	0.0013	0.0011	0.0003	0.0003	0.0003	0.0004	0.0004	0.0059	0.0004	0.0004	0.0007	0.0003	0.0002	0.0002	0.0001	0.0004	0	0.0007	0	0	0.0008	0	0.0003	0.0016	0	0.012	0.65419	D	0.021	0.58089	D	0.632	0.40232	P	0.417	0.44992	B	0.805050	0.09294	U	0.866418	0.896629	0.27782	N	.	.	.	5.6	0.00825	T	-3.0	0.62343	D	0.082	0.05799	-1.0564	0.12672	T	0.010	0.03492	T	10	0.0079647	0.00181	T	.	.	.	0.165	0.42395	.	.	.	.	0.2591834140118568	0.25832	0.873438287621	0.69479	.	.	.	0.016952	0.13915	T	-0.0549219	0.43696	T	-0.316668	0.42939	T	0.0505667294951351	0.05598	T	0.630337	0.25361	T	0.36580047	0.58273	0.28238165	0.54226	0.36580047	0.58274	0.28238165	0.54225	-7.553	0.57982	D	.	.	0.117	0.42433	B	.;.;.	.;.;.	3.080477	0.41440	21.4	0.94945969232258332	0.25847	0.16475	0.19406	N	AEFDBHCI	0.108565	0.21592	N	-0.152863992918151	0.35113	2.012754	-0.417645654591778	0.24479	1.340699	0.999995060563035	0.74766	0.766844	0.99359	0	0.672317	0.65289	0	0.851219	0.99655	0	0.554799	0.18163	0	.	.	3.18	1.3	0.20778	-0.350000	0.07769	.	.	0.452000	0.21348	0.000000	0.06391	0.000000	0.08366	0.060000	0.15972	0.0:0.7684:0.0:0.2316	7.479	0.26562	934	0.15400	MHC class I-like antigen recognition-like|MHC class I alpha chain, alpha1 alpha2 domains;MHC class I-like antigen recognition-like|MHC class I alpha chain, alpha1 alpha2 domains;MHC class I-like antigen recognition-like|MHC class I alpha chain, alpha1 alpha2 domains	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.004956	0.000000	0.001401	0.004673	0.000000	0.000000	0.006329	0.007692	0.05	291.43	42	chr6	31356197	.	C	T	291.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.172;DP=643;ExcessHet=0;FS=8.181;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=50.78;MQRankSum=-1.991;QD=6.94;ReadPosRankSum=-2.064;SOR=1.502	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:32,10:42:99:0|1:31356192_G_A:303,0,1252:31356192	9	0	1	0
chr6	31356716	31356717	CA	0	exonic	HLA-B	.	.	.	.	0	89	17	5	115	142	0.131707	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.55	1867.08	18	chr6	31356716	.	CA	*	1867.08	.	AC=11;AF=0.55;AN=20;DP=445;ExcessHet=1.4371;FS=12.356;InbreedingCoeff=-0.0989;MLEAC=11;MLEAF=0.55;MQ=52.65;QD=4.56;SOR=1.441	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,18:18:54:1|1:31356711_C_CGGAG:810,54,0:31356711	2	3	5	0
chr6	31356719	31356720	GT	0	exonic	HLA-B	.	.	.	.	10	742	10	2	758	772	0.00934579	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.55	1822.08	18	chr6	31356719	.	GT	*	1822.08	.	AC=11;AF=0.55;AN=20;DP=448;ExcessHet=1.4371;FS=12.366;InbreedingCoeff=-0.0989;MLEAC=11;MLEAF=0.55;MQ=52.46;QD=4.42;SOR=1.453	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,18:18:54:1|1:31356711_C_CGGAG:810,54,0:31356711	2	3	5	0
chr6	31356827	31356827	T	0	exonic	HLA-B	.	.	.	.	73	133	388	93	835	1409	0.683333	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7	7688.91	119	chr6	31356827	.	T	*	7688.91	.	AC=14;AF=0.7;AN=20;DP=1309;ExcessHet=0.2348;FS=0;InbreedingCoeff=-0.1111;MLEAC=14;MLEAF=0.7;MQ=53.95;QD=6.02;SOR=0.812	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,119:119:99:1|1:31356809_C_T:5336,358,0:31356809	1	5	4	0
chr6	31625601	31625601	T	C	exonic	PRRC2A	.	nonsynonymous SNV	PRRC2A:NM_004638:exon7:c.T749C:p.M250T,PRRC2A:NM_080686:exon7:c.T749C:p.M250T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.142	0.0178076993305	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.022e-07	6.841e-07	0	1.42e-06	9.161e-07	0	0	.	.	0	0	0	0	0	0	9.161e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.16	0.31427	T	0.985	0.61118	D	0.637	0.51992	P	0.000005	0.62929	D	0.000000	0.995498	0.42717	D	2.105	0.58435	M	4.53	0.01980	T	-4.28	0.76334	D	0.586	0.61680	-0.8368	0.52858	T	0.008	0.02720	T	10	0.43278176	0.57599	T	0.017808	0.39652	T	0.142	0.37995	0.195	0.10705	0.128874641272	0.12493	0.5487022548939708	0.54796	0.180877748463	0.20346	0.868078529835	0.92292	D	0.045246	0.27062	T	-0.000470291	0.51590	T	-0.238452	0.50949	T	0.941546738147736	0.61490	D	0.757724	0.38135	T	0.6803623	0.76989	0.726591	0.83849	0.6803623	0.76990	0.726591	0.83850	-10.319	0.75799	D	.	.	0.987	0.96107	P	.;.	.;.	3.901954	0.56841	23.8	0.93194787374129984	0.22862	0.76208	0.37359	D	AEFDBCI	0.190166	0.31740	N	0.457200889062192	0.64613	4.719805	0.475887910268732	0.66395	4.94659	0.999999757296763	0.74766	0.706548	0.73137	0	0.697927	0.68747	0	0.697927	0.64325	0	0.714379	0.83352	0	.	.	5.06	5.06	0.67838	3.242000	0.51082	.	.	0.639000	0.52094	1.000000	0.71638	1.000000	0.68203	0.982000	0.59238	0.0:0.0:0.0:1.0	13.917	0.63410	878	0.29785	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	4335.04	114	chr6	31625601	.	T	C	4335.04	.	AC=10;AF=0.5;AN=20;BaseQRankSum=-2.295;DP=1214;ExcessHet=22.563;FS=219.133;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=60;MQRankSum=0;QD=3.8;ReadPosRankSum=1.54;SOR=11.106	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:83,31:114:99:0|1:31625601_T_C:733,0,2805:31625601	0	0	10	0
chr6	31625602	31625602	G	A	exonic	PRRC2A	.	nonsynonymous SNV	PRRC2A:NM_004638:exon7:c.G750A:p.M250I,PRRC2A:NM_080686:exon7:c.G750A:p.M250I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.179	0.0251130273271	7.7e-05	.	1.784e-05	0.0002	0	0	0	0	0	0	1.29e-05	2	154602	rs145609055	3.51e-06	4.788e-06	5.554e-06	1.42e-06	0.0001	1.03e-06	7.5e-07	4.163e-05	2.527e-05	0.0001	0	0	0	0	0	9.159e-07	0	0	6.577e-06	6.567e-06	1.286e-05	0	2.417e-05	0	0	.	.	2.417e-05	0	0	0	0	0	0	0	0	0	0.123	0.27544	T	0.045	0.49390	D	0.817	0.45613	P	0.292	0.40739	B	0.000005	0.62929	D	0.000000	0.999301	0.46608	D	2.105	0.58435	M	4.62	0.01834	T	-1.88	0.43906	N	0.361	0.40565	-0.6283	0.63643	T	0.004	0.01400	T	10	0.19789547	0.35739	T	0.025113	0.48090	D	0.179	0.44899	0.192	0.10304	0.19168177325	0.18762	0.40434125802200627	0.40350	0.17321795193	0.19509	0.804894983768	0.82710	D	0.021964	0.17018	T	-0.199437	0.20885	T	-0.287586	0.46022	T	0.45686399936676	0.31050	T	0.867413	0.56831	D	0.274247	0.50490	0.26731342	0.52588	0.274247	0.50490	0.26731342	0.52587	-5.343	0.40366	T	.	.	0.916	0.88221	P	.;.	.;.	4.189641	0.63134	24.5	0.9887765022119781	0.47771	0.95609	0.65407	D	AEFDBCI	0.573860	0.57688	D	0.38079905834961	0.60382	4.226512	0.455960616804997	0.65101	4.781292	0.999999999999631	0.74766	0.706548	0.73137	0	0.697927	0.68747	0	0.697927	0.64325	0	0.714379	0.83352	0	.	.	5.06	5.06	0.67838	3.736000	0.54774	.	.	0.650000	0.52971	1.000000	0.71638	1.000000	0.68203	0.970000	0.54328	0.0:0.0:1.0:0.0	17.348	0.87202	878	0.29785	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	5289.04	114	chr6	31625602	.	G	A	5289.04	.	AC=10;AF=0.5;AN=20;BaseQRankSum=-2.245;DP=1213;ExcessHet=22.563;FS=261.515;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=60;MQRankSum=0;QD=4.64;ReadPosRankSum=1.66;SOR=10.015	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:83,31:114:99:0|1:31625601_T_C:733,0,2805:31625601	0	0	10	0
chr6	32335930	32335930	C	T	exonic	TSBP1	.	nonsynonymous SNV	TSBP1:NM_001286475:exon13:c.G364A:p.G122R,TSBP1:NM_006781:exon13:c.G433A:p.G145R,TSBP1:NM_001286474:exon14:c.G385A:p.G129R	.	430	1053	35	4	0	43	0.0200093	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.042	.	0.0023	0.0107827	0.0093	0.0008	0.0190	0.0158	0.0255	0.0041	0.0162	0.0170	0.0088679	1371	154602	rs139993810	0.0064	0.0066	0.0063	0.0066	0.0196	0.0063	0.0063	0.0185	0.0181	0.0012	0.0196	0.0027	0.0138	0.0205	0.0158	0.0038	0.0154	0.0181	0.0067	0.0067	0.0059	0.0076	0.0197	0.0064	0.0062	0.0166	0.0154	0.0013	0.0011	0.0130	0.0032	0.0197	0.0266	0.0034	0.0040	0.0142	0.0145	0.003	0.68238	D	0.019	0.59159	D	.	.	.	.	.	.	.	.	.	.	0.997147	0.23606	N	.	.	.	3.41	0.05574	T	-2.93	0.61284	D	0.252	0.43899	-0.9298	0.44168	T	0.007	0.02282	T	7	0.0052653253	0.00115	T	.	.	.	0.042	0.11227	0.214	0.13354	.	.	0.06775107962844537	0.06713	0.369240680333	0.38451	.	.	.	.	.	.	-0.561488	0.00249	T	-0.564379	0.15969	T	0.0414496540811556	0.03954	T	0.676832	0.28664	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.309	0.55549	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	4.506794	0.70541	25.5	0.99415298787707362	0.63501	0.58008	0.30527	D	AEFI	0.167644	0.29433	N	-0.0615019390084884	0.39091	2.299705	-0.168684592006031	0.32696	1.862731	2.87057104956723E-5	0.03498	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.530356	0.10902	0	.	.	2.96	2.09	0.26154	0.913000	0.28233	.	.	-0.865000	0.02600	1.000000	0.71638	1.000000	0.68203	0.257000	0.23443	0.0:0.8587:0.0:0.1413	6.173	0.19644	934	0.15400	.;.;.;.;.;.;.	.	.	.	.	rs139993810	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	617.43	53	chr6	32335930	.	C	T	617.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.091;DP=364;ExcessHet=0;FS=1.047;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.65;ReadPosRankSum=0.276;SOR=0.518	GT:AD:DP:GQ:PL	0/1:28,25:53:99:629,0,658	9	0	1	0
chr6	32349791	32349791	G	A	exonic	TSBP1	.	nonsynonymous SNV	TSBP1:NM_006781:exon9:c.C298T:p.L100F	.	431	1053	34	4	0	42	0.0195531	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.048	.	0.0023	0.0105831	0.0090	0.0008	0.0175	0.0156	0.0253	0.0040	0.0160	0.0169	0.0087127	1347	154602	rs79044345	0.0064	0.0065	0.0063	0.0066	0.0189	0.0063	0.0063	0.0178	0.0174	0.0012	0.0189	0.0027	0.0138	0.0206	0.0155	0.0038	0.0154	0.0183	0.0067	0.0067	0.0058	0.0076	0.0197	0.0063	0.0062	0.0166	0.0154	0.0013	0.0011	0.0130	0.0032	0.0197	0.0263	0.0034	0.0040	0.0142	0.0145	0.051	0.91255	T	0.303	0.20164	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	3.38	0.05778	T	-0.15	0.10308	N	0.124	0.17278	-0.9131	0.46467	T	0.004	0.01330	T	8	0.0035131574	0.00063	T	.	.	.	0.048	0.13305	.	.	0.0806252709748	0.07271	0.03652289036496629	0.03599	0.868342382755	0.69304	.	.	.	.	.	.	-0.507272	0.00520	T	-0.487157	0.23689	T	0.014561251023395	0.00298	T	0.511449	0.17993	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.142	0.38782	B	.;.;.;.	.;.;.;.	0.527122	0.08959	5.740	0.99703285299393041	0.80798	0.04503	0.10125	N	AEFDBI	0.043577	0.06905	N	-0.618116652917595	0.18400	0.9549886	-0.712612391797401	0.16647	0.8816196	8.31050451307236E-5	0.04703	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	3.65	0.709	0.17307	0.345000	0.19720	.	.	0.674000	0.70861	0.017000	0.19353	0.379000	0.24607	0.625000	0.32026	0.1155:0.0:0.4702:0.4143	4.106	0.09507	934	0.15400	.;.;.;.	.	.	.	.	rs117823268	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.010349	0.000000	0.012228	0.005319	0.000000	0.008621	0.006098	0.011364	0.05	1545.43	140	chr6	32349791	.	G	A	1545.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.85;DP=542;ExcessHet=0;FS=3.053;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.04;ReadPosRankSum=-3.358;SOR=0.932	GT:AD:DP:GQ:PL	0/1:81,59:140:99:1557,0,2022	9	0	1	0
chr6	32521970	32521970	G	0	exonic	HLA-DRB5	.	.	.	.	128	791	65	0	538	603	0.0394657	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	3419.5	287	chr6	32521970	.	G	*	3419.5	.	AC=4;AF=0.2;AN=20;BaseQRankSum=4.23;DP=2130;ExcessHet=7.0302;FS=3.886;InbreedingCoeff=-0.5385;MLEAC=4;MLEAF=0.2;MQ=55.93;MQRankSum=-7.81;QD=1.83;ReadPosRankSum=-7.2;SOR=0.949	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:188,60:287:99:0|1:32521930_A_C:1953,0,7713:32521930	6	0	4	0
chr6	32521978	32521979	GT	0	exonic	HLA-DRB5	.	.	.	.	198	662	145	14	503	676	0.115564	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.35	7726.93	271	chr6	32521978	.	GT	*	7726.93	.	AC=7;AF=0.35;AN=20;BaseQRankSum=5.95;DP=2005;ExcessHet=7.0302;FS=9.754;InbreedingCoeff=-0.5385;MLEAC=7;MLEAF=0.35;MQ=54.56;MQRankSum=-6.638;QD=4.12;ReadPosRankSum=-4.747;SOR=0.978	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:177,58:271:99:0|1:32521930_A_C:1900,0,7264:32521930	5	2	3	0
chr6	32530184	32530184	T	0	exonic	HLA-DRB5	.	.	.	.	81	232	140	96	973	1305	0.417085	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	28429.7	110	chr6	32530184	.	T	*	28429.7	.	AC=10;AF=0.5;AN=20;BaseQRankSum=-0.814;DP=1127;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=10;MLEAF=0.5;MQ=56.79;MQRankSum=-1.487;QD=26.57;ReadPosRankSum=-1.486;SOR=0.637	GT:AD:DP:GQ:PGT:PID:PL:PS	1|0:0,9:110:71:0|1:32530184_T_*:4575,4179,4168:32530184	4	4	2	0
chr6	32530185	32530185	T	0	exonic	HLA-DRB5	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4	33773.0	110	chr6	32530185	.	T	*	33773.0	.	AC=8;AF=0.4;AN=20;BaseQRankSum=-0.232;DP=1115;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=8;MLEAF=0.4;MQ=56.87;MQRankSum=-1.487;QD=31.5;ReadPosRankSum=-1.623;SOR=0.644	GT:AD:DP:GQ:PGT:PID:PL:PS	1|0:0,9:110:71:0|1:32530184_T_*:4575,4179,4168:32530184	5	3	2	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3	5657.87	185	chr6	32584171	.	G	*	5657.87	.	AC=6;AF=0.3;AN=20;BaseQRankSum=-0.372;DP=1605;ExcessHet=0.3701;FS=1.544;InbreedingCoeff=0.1667;MLEAC=6;MLEAF=0.3;MQ=50.25;MQRankSum=4.49;QD=5.63;ReadPosRankSum=5.41;SOR=0.602	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:85,100:185:99:0|1:32584162_G_T:3941,0,3268:32584162	5	1	4	0
chr6	32584178	32584178	G	0	exonic	HLA-DRB1	.	.	.	.	53	515	203	35	716	989	0.209517	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.45	2923.01	196	chr6	32584178	.	G	*	2923.01	.	AC=9;AF=0.45;AN=20;BaseQRankSum=1.57;DP=1798;ExcessHet=0.3131;FS=0;InbreedingCoeff=0.2;MLEAC=9;MLEAF=0.45;MQ=55.21;MQRankSum=-7.546;QD=2.67;ReadPosRankSum=-1.041;SOR=0.741	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:88,108:196:99:0|1:32584162_G_T:4270,0,3370:32584162	4	3	3	0
chr6	32584370	32584370	G	0	exonic	HLA-DRB1	.	.	.	.	164	387	826	46	99	1017	0.542553	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.35	26425.4	342	chr6	32584370	.	G	*	26425.4	.	AC=7;AF=0.35;AN=20;BaseQRankSum=4.65;DP=2365;ExcessHet=0.2065;FS=9.525;InbreedingCoeff=0.2;MLEAC=7;MLEAF=0.35;MQ=54.75;MQRankSum=-13.78;QD=11.54;ReadPosRankSum=-2.424;SOR=1.336	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:225,65:342:99:0|1:32584366_C_T:2224,0,9238:32584366	3	0	7	0
chr6	32641444	32641444	G	0	exonic	HLA-DQA1	.	.	.	.	476	488	96	33	429	591	0.142355	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4	3665.7	286	chr6	32641444	.	G	*	3665.7	.	AC=8;AF=0.4;AN=20;DP=1693;ExcessHet=0.0657;FS=16.269;InbreedingCoeff=0.3939;MLEAC=8;MLEAF=0.4;MQ=54.37;QD=3.34;SOR=1.06	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:217,69:286:99:0|1:32641430_C_T:2244,0,8904:32641430	4	2	4	0
chr6	32641445	32641445	A	0	exonic	HLA-DQA1	.	.	.	.	478	485	97	33	429	592	0.143866	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4	3623.7	286	chr6	32641445	.	A	*	3623.7	.	AC=8;AF=0.4;AN=20;DP=1691;ExcessHet=0.0657;FS=16.269;InbreedingCoeff=0.3939;MLEAC=8;MLEAF=0.4;MQ=54.52;QD=3.31;SOR=1.05	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:217,69:286:99:0|1:32641430_C_T:2244,0,8904:32641430	4	2	4	0
chr6	32641462	32641462	G	0	exonic	HLA-DQA1	.	.	.	.	480	493	54	16	479	565	0.0802239	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.35	3985.28	312	chr6	32641462	.	G	*	3985.28	.	AC=7;AF=0.35;AN=20;DP=1723;ExcessHet=0.0059;FS=7.005;InbreedingCoeff=0.6;MLEAC=7;MLEAF=0.35;MQ=56.07;QD=4.28;SOR=0.858	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:240,72:312:99:0|1:32641430_C_T:2301,0,9806:32641430	5	2	3	0
chr6	32641464	32641464	T	0	exonic	HLA-DQA1	.	.	.	.	475	499	54	15	479	563	0.077634	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.35	3985.28	312	chr6	32641464	.	T	*	3985.28	.	AC=7;AF=0.35;AN=20;DP=1725;ExcessHet=0.0059;FS=7.005;InbreedingCoeff=0.6;MLEAC=7;MLEAF=0.35;MQ=56.12;QD=4.28;SOR=0.858	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:240,72:312:99:0|1:32641430_C_T:2301,0,9806:32641430	5	2	3	0
chr6	32641501	32641501	G	0	exonic	HLA-DQA1	.	.	.	.	496	603	6	2	415	425	0.00822368	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.35	7913.28	297	chr6	32641501	.	G	*	7913.28	.	AC=7;AF=0.35;AN=20;DP=1762;ExcessHet=0.0059;FS=1.741;InbreedingCoeff=0.6;MLEAC=7;MLEAF=0.35;MQ=58.11;QD=8.07;SOR=0.754	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:250,47:297:99:0|1:32641477_G_T:1221,0,10356:32641477	5	2	3	0
chr6	32641522	32641522	A	0	exonic	HLA-DQA1	.	.	.	.	497	607	54	19	345	437	0.0704441	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.35	7853.28	315	chr6	32641522	.	A	*	7853.28	.	AC=7;AF=0.35;AN=20;DP=1846;ExcessHet=0.0059;FS=0.525;InbreedingCoeff=0.6;MLEAC=7;MLEAF=0.35;MQ=58.47;QD=7.54;SOR=0.78	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:262,53:315:99:0|1:32641477_G_T:1322,0,10772:32641477	5	2	3	0
chr6	32664917	32664917	C	A	exonic	HLA-DQB1	.	nonsynonymous SNV	HLA-DQB1:NM_001243961:exon2:c.G260T:p.R87L,HLA-DQB1:NM_002123:exon2:c.G260T:p.R87L	.	41	553	66	57	805	985	0.139969	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.2	36210.8	168	chr6	32664917	.	C	A	36210.8	.	AC=4;AF=0.2;AN=20;BaseQRankSum=5.83;DP=2277;ExcessHet=0.0059;FS=2.897;InbreedingCoeff=0.6;MLEAC=4;MLEAF=0.2;MQ=59.06;MQRankSum=-1.713;QD=31.22;ReadPosRankSum=1.13;SOR=0.554	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:138,30:168:99:0|1:32664917_C_A:844,0,5704:32664917	6	0	4	0
chr6	32664926	32664926	G	A	exonic	HLA-DQB1	.	nonsynonymous SNV	HLA-DQB1:NM_001243961:exon2:c.C251T:p.P84L,HLA-DQB1:NM_002123:exon2:c.C251T:p.P84L	.	20	1284	160	58	0	276	0.0970464	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.2	3476.57	175	chr6	32664926	.	G	A	3476.57	.	AC=4;AF=0.2;AN=20;BaseQRankSum=7.2;DP=2299;ExcessHet=1.5895;FS=1.445;InbreedingCoeff=-0.25;MLEAC=4;MLEAF=0.2;MQ=58.12;MQRankSum=-7.617;QD=5.29;ReadPosRankSum=-3.501;SOR=0.823	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:146,29:175:99:.:.:582,0,5921:.	6	0	4	0
chr6	34528878	34528878	G	C	splicing	PACSIN1	NM_020804:exon4:c.456+1G>C;NM_001199583:exon4:c.456+1G>C	.	.	.	.	.	.	.	.	.	.	1.0000	0.906	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.999e-06	0.0002	8.365e-06	5.622e-06	9.215e-06	3.54e-06	2.58e-06	4.66e-06	3.4e-06	0	0	0	0	0	0	9.215e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.248786	0.78487	D	0.119587	0.78208	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.;.	.;.;.;.	7.107861	0.96150	35	0.99376011016101284	0.61671	0.99663	0.98459	D	AEFBI	.	.	.	0.983139481429135	0.95203	13.40136	0.770643117215695	0.87689	9.309817	0.999999999960085	0.74766	0.078448	0.01964	0	0.097471	0.02872	0	0.083675	0.02720	0	0.058706	0.01089	0	0.938909	0.59992	3.65	3.65	0.40985	9.429000	0.96714	11.737000	0.95113	0.616000	0.49467	1.000000	0.71638	1.000000	0.68203	0.954000	0.50415	0.0:0.0:1.0:0.0	15.531	0.75701	632	0.64850	.;.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.4	139.65	56	chr6	34528878	.	G	C	139.65	.	AC=4;AF=0.4;AN=10;BaseQRankSum=-1.21;DP=617;ExcessHet=2.8389;FS=196.238;InbreedingCoeff=-0.5972;MLEAC=5;MLEAF=0.5;MQ=60;MQRankSum=0;QD=0.48;ReadPosRankSum=2.19;SOR=8.688	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:38,18:56:20:.:.:20,0,591:.	1	0	4	5
chr6	34871686	34871686	A	G	exonic	UHRF1BP1	.	nonsynonymous SNV	UHRF1BP1:NM_017754:exon19:c.A4084G:p.I1362V	.	430	1076	16	0	0	16	0.00738007	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.038	.	0.0065	0.00479233	0.0071	0.0011	0.0090	0.0007	0.0060	0.0085	0.0157	0.0064	0.0068175	1054	154602	rs147415559	0.0075	0.0075	0.0073	0.0077	0.0146	0.0074	0.0073	0.0121	0.0111	0.0014	0.0089	0.0133	0.0003	0.0065	0.0146	0.0078	0.0079	0.0071	0.0063	0.0064	0.0063	0.0063	0.0090	0.0060	0.0059	0.0078	0.0076	0.0012	0.0286	0.0090	0.0135	0.0002	0.0063	0.0238	0.0084	0.0114	0.0068	0.107	0.29554	T	0.306	0.19972	T	0.0	0.02946	B	0.002	0.06944	B	0.013352	0.28869	N	0.388740	0.999976	0.19072	N	1.895	0.50365	L	2.93	0.10386	T	-0.54	0.17210	N	0.135	0.26111	-0.9540	0.40274	T	0.005	0.01833	T	10	0.0040123165	0.00078	T	.	.	.	0.038	0.09825	.	.	0.166414681773	0.16258	0.3526776110218733	0.35181	0.107623241374	0.12144	0.248244732618	0.03585	T	0.014213	0.12144	T	-0.606782	0.00132	T	-0.63798	0.09816	T	0.00257089722774354	0.00027	T	0.606339	0.22814	T	0.021554956	0.00765	0.030293586	0.01466	0.021554956	0.00765	0.030293586	0.01466	-3.97	0.23353	T	.	.	0.086	0.10691	B	.;.	.;.	0.412397	0.07833	4.527	0.9730147765059125	0.33280	0.19127	0.20538	N	AEFBI	0.088701	0.17982	N	-0.7715972624988	0.14053	0.6970028	-0.715032602805248	0.16587	0.8781495	0.131536229338027	0.17100	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	6.08	-3.13	0.04944	-0.455000	0.06837	-0.094000	0.12022	-0.053000	0.16966	0.000000	0.06391	0.000000	0.08366	0.991000	0.66497	0.3455:0.3991:0.061:0.1944	4.156	0.09727	290	0.88477	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.015106	0.030303	0.017663	0.017544	0.000000	0.008621	0.012195	0.007576	0.05	1449.43	149	chr6	34871686	.	A	G	1449.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.439;DP=467;ExcessHet=0;FS=2.9;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.73;ReadPosRankSum=0.615;SOR=0.612	GT:AD:DP:GQ:PL	0/1:83,66:149:99:1461,0,2124	9	0	1	0
chr6	36721185	36721185	-	AGGCTGCCTCCCCTGAGGAGGCTGCCTCCCCTGAGG	exonic	RAB44	.	nonframeshift insertion	RAB44:NM_001257357:exon9:c.1051_1052insAGGCTGCCTCCCCTGAGGAGGCTGCCTCCCCTGAGG:p.A358_P359insASPEEAASPEEA	.	417	971	124	8	2	142	0.067243	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.68e-05	2	26028	.	0.0002	0.0002	0.0003	0.0002	0.0011	0.0002	0.0002	0.0004	0.0004	0.0007	0	0	0	0.0003	0.0011	0.0002	0.0002	5.106e-05	0.0005	0.0006	0.0005	0.0006	0.0015	0.0005	0.0004	0.0010	0.0009	0.0009	0	0.0015	0	0	0.0002	0.0034	0.0003	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	4577.48	71	chr6	36721185	.	C	CAGGCTGCCTCCCCTGAGGAGGCTGCCTCCCCTGAGG	4577.48	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.278;DP=547;ExcessHet=2.8389;FS=4.333;InbreedingCoeff=-0.3333;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.87;ReadPosRankSum=-1.223;SOR=0.917	GT:AD:DP:GQ:PL	0/1:48,23:71:99:812,0,1948	9	0	1	0
chr6	41806517	41806517	C	T	exonic	USP49	.	nonsynonymous SNV	USP49:NM_001384542:exon3:c.G467A:p.R156Q,USP49:NM_001286554:exon4:c.G467A:p.R156Q,USP49:NM_018561:exon4:c.G467A:p.R156Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.091	0.0336589532028	0.0003	0.000798722	0.0010	0.0003	9.346e-05	0	0.0054	0.0013	0.0041	6.444e-05	0.0008215	127	154602	rs192438668	0.0006	0.0007	0.0006	0.0006	0.0006	0.0006	0.0006	0.0005	0.0005	8.97e-05	0.0002	0	0	0.0053	0.0004	0.0006	0.0005	0.0002	0.0008	0.0008	0.0007	0.0009	0.0007	0.0007	0.0006	0.0005	0.0005	0.0001	0	0.0003	0	0	0.0055	0	0.0007	0.0005	0.0002	0.097	0.31532	T	0.142	0.34359	T	0.99	0.63424	D	0.733	0.55393	P	0.000027	0.55875	D	0.121135	0.960782	0.38199	D	2.11	0.58565	M	3.67	0.07478	T	-1.9	0.44657	N	0.196	0.24883	-1.0839	0.06609	T	0.025	0.10910	T	10	0.008580953	0.00194	T	0.033659	0.55136	D	0.091	0.26358	.	.	0.290620346082	0.28682	0.8522228639218259	0.85184	0.995478120386	0.74213	0.788092076778	0.80153	T	0.046562	0.27461	T	-0.476766	0.00773	T	-0.525094	0.19781	T	0.0973705053329468	0.12065	T	0.889011	0.61998	D	0.24691473	0.47665	0.18094975	0.40927	0.24691473	0.47665	0.18094975	0.40927	-4.538	0.31382	T	.	.	0.086	0.11701	B	.;.;.	.;.;.	3.845360	0.55667	23.6	0.99822575776863964	0.90502	0.93203	0.57594	D	AEFDBI	0.470463	0.51641	N	0.388969392548312	0.60824	4.27571	0.356319278554848	0.58888	4.062458	0.933535833521334	0.27133	0.646311	0.45356	0	0.546412	0.12157	0	0.645312	0.48771	0	0.613276	0.41899	0	.	.	4.46	4.46	0.53567	3.060000	0.49648	5.859000	0.50413	0.581000	0.30040	1.000000	0.71638	1.000000	0.68203	0.616000	0.31793	0.0:1.0:0.0:0.0	16.898	0.85974	479	0.77495	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001521	0.000000	0.001359	0.002924	0.000000	0.000000	0.003106	0.000000	0.05	816.43	60	chr6	41806517	.	C	T	816.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.741;DP=393;ExcessHet=0;FS=1.053;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.61;ReadPosRankSum=1.18;SOR=0.454	GT:AD:DP:GQ:PL	0/1:30,30:60:99:828,0,834	9	0	1	0
chr6	43220537	43220537	C	G	exonic	CUL9	.	nonsynonymous SNV	CUL9:NM_015089:exon32:c.C6361G:p.P2121A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.152	0.0307426047536	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.138	0.25873	T	0.361	0.16964	T	0.044	0.21686	B	0.014	0.16862	B	0.001358	0.39310	N	0.261255	0.988156	0.40713	D	1.7	0.43825	L	-0.71	0.72889	T	-1.89	0.45042	N	0.388	0.42931	-0.8524	0.51802	T	0.171	0.51245	T	10	0.16432378	0.30746	T	0.030743	0.52991	D	0.152	0.39956	0.453	0.51612	0.462582042978	0.45884	0.37736842857596514	0.37651	0.361371359412	0.37794	0.51121878624	0.40393	T	0.088877	0.38253	T	-0.00508103	0.50952	T	-0.245075	0.50301	T	0.645442187786102	0.38267	D	0.919208	0.71352	D	0.07244557	0.16115	0.067432836	0.13950	0.07244557	0.16115	0.067432836	0.13950	-5.748	0.44119	T	.	.	0.073	0.06024	B	.;.	.;.	2.621548	0.34067	19.52	0.98822405222291565	0.46802	0.92520	0.55904	D	AEFDBCI	0.443495	0.50078	N	-0.0877871116073661	0.37927	2.213749	0.0539144756381309	0.42262	2.553121	0.999999999784991	0.74766	0.634777	0.41761	0	0.643519	0.57511	0	0.643519	0.47002	0	0.635551	0.53088	0	.	.	5.44	4.57	0.55860	3.905000	0.56046	3.998000	0.41048	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.857000	0.40602	0.0:0.9271:0.0:0.0729	14.053	0.64274	377	0.83897	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	2566.43	222	chr6	43220537	.	C	G	2566.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.85;DP=554;ExcessHet=0;FS=0.493;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.56;ReadPosRankSum=1.61;SOR=0.654	GT:AD:DP:GQ:PL	0/1:117,105:222:99:2578,0,3022	9	0	1	0
chr6	52277141	52277141	C	T	exonic	MCM3	.	nonsynonymous SNV	MCM3:NM_001270472:exon7:c.G953A:p.R318Q,MCM3:NM_001366369:exon8:c.G1091A:p.R364Q,MCM3:NM_001366370:exon8:c.G1091A:p.R364Q,MCM3:NM_001366371:exon8:c.G1040A:p.R347Q,MCM3:NM_001366372:exon8:c.G1040A:p.R347Q,MCM3:NM_001366374:exon8:c.G482A:p.R161Q,MCM3:NM_002388:exon8:c.G1091A:p.R364Q,MCM3:NM_001366373:exon9:c.G572A:p.R191Q	.	429	1092	1	0	0	1	0.000457666	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.538	0.0376508520408	0.0002	.	2.477e-05	0.0002	0	0	0	0	0	6.064e-05	1.94e-05	3	154602	rs150139384	4.105e-06	4.788e-06	5.445e-06	2.75e-06	2.319e-05	1.48e-06	9.7e-07	3.85e-06	1.44e-06	0	0	0	0	0	0	3.597e-06	0	2.319e-05	2.628e-05	2.627e-05	3.853e-05	1.345e-05	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	0.056	0.38185	T	0.185	0.28958	T	1.0	0.90584	D	0.995	0.83170	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.98	0.96631	H	2.84	0.10674	T	-3.29	0.65742	D	0.938	0.98268	-0.7819	0.56195	T	0.117	0.41297	T	10	0.85704815	0.84906	D	0.037651	0.57744	D	0.538	0.80664	.	.	0.645699082809	0.64276	0.8981223552556176	0.89783	0.809211086787	0.66662	0.843816280365	0.88676	D	0.405235	0.76147	T	0.0777684	0.61778	D	0.110601	0.77613	D	0.927562177181244	0.59050	D	0.995	0.98241	D	0.7612865	0.81529	0.6008682	0.76811	0.7612865	0.81531	0.6008682	0.76812	-12.72	0.88176	D	.	.	0.458	0.62601	A	.;.;.;.	.;.;.;.	6.012415	0.94339	34	0.99958274569974614	0.99986	0.98848	0.87654	D	AEFDBHCI	0.912409	0.87300	D	1.01031926178275	0.96053	14.24965	0.931238865348496	0.96795	15.15672	1.0	0.98316	0.722319	0.85440	0	0.698795	0.70079	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.36	5.36	0.76624	7.726000	0.83783	7.700000	0.66237	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.990000	0.65344	0.0:1.0:0.0:0.0	19.292	0.94093	591	0.68823	MCM domain|MCM domain|AAA+ ATPase domain;.;.;MCM domain|MCM domain|AAA+ ATPase domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	969.43	92	chr6	52277141	.	C	T	969.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.94;DP=407;ExcessHet=0;FS=7.066;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.54;ReadPosRankSum=-0.275;SOR=1.409	GT:AD:DP:GQ:PL	0/1:55,37:92:99:981,0,1362	9	0	1	0
chr6	53294382	53294382	C	G	exonic	ELOVL5	.	nonsynonymous SNV	ELOVL5:NM_001242831:exon3:c.G168C:p.L56F	Spinocerebellar ataxia 38, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.023	0.00193000276756	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1158443883	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.571e-06	6.566e-06	1.285e-05	0	2.413e-05	0	0	.	.	2.413e-05	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	0.29	0.04161	N	0.327	0.36779	-0.9903	0.32525	T	0.026	0.10954	T	7	0.06319183	0.08194	T	0.00193	0.03430	T	0.023	0.04649	0.155	0.05858	0.043077524339	0.03247	.	.	.	.	.	.	.	.	.	.	-0.229789	0.16678	T	-0.567853	0.15647	T	0.0992154628038406	0.12270	T	0.350365	0.07800	T	.	.	.	.	.	.	.	.	-4.063	0.24743	T	.	.	0.456	0.62503	A	.	.	0.010276	0.04355	1.114	0.95866147464677642	0.28033	0.03408	0.08528	N	AEFDGBHCI	0.030212	0.02998	N	-1.10598644215549	0.06536	0.3011329	-1.21156978930833	0.05724	0.2735052	0.999984464677146	0.51787	0.706548	0.73137	0	0.724815	0.89359	0	0.779548	0.98927	0	0.629945	0.49285	0	.	.	3.15	-0.513	0.11365	-0.407000	0.07240	0.049000	0.13974	-0.188000	0.09543	0.000000	0.06391	0.001000	0.17328	0.021000	0.11733	0.2299:0.3411:0.2263:0.2027	0.519	0.00569	906	0.23090	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	1016.43	105	chr6	53294382	.	C	G	1016.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.513;DP=437;ExcessHet=0;FS=1.628;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.68;ReadPosRankSum=1.97;SOR=0.802	GT:AD:DP:GQ:PL	0/1:66,39:105:99:1028,0,1868	9	0	1	0
chr6	57148345	57148345	C	T	exonic	ZNF451	.	nonsynonymous SNV	ZNF451:NM_001031623:exon10:c.C2260T:p.R754C,ZNF451:NM_015555:exon10:c.C2260T:p.R754C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.189	0.01856823979	.	0.000599042	7.494e-05	0	0	0	0	0	0.0011	0.0005	8.41e-05	13	154602	rs575508843	4.652e-05	4.652e-05	2.995e-05	6.326e-05	0.0005	3.728e-05	3.412e-05	0.0004	0.0003	2.987e-05	0	0	2.52e-05	1.873e-05	0.0003	1.259e-05	9.937e-05	0.0005	5.911e-05	5.906e-05	2.57e-05	9.404e-05	0.0019	3.076e-05	2.209e-05	0.0010	0.0007	0	0	0	0	0	0	0	0	0	0.0019	0.002	0.72154	D	0.009	0.66756	D	1.0	0.90584	D	0.973	0.72923	D	0.003578	0.34767	N	0.316196	0.999993	0.58761	D	2.645	0.77386	M	2.08	0.20255	T	-2.93	0.64478	D	0.292	0.38541	-1.0857	0.06281	T	0.085	0.33269	T	10	0.13102415	0.24935	T	0.018568	0.40677	T	0.189	0.46613	.	.	0.502068736871	0.49845	0.430367893461108	0.42953	0.314614938992	0.33745	0.394929230213	0.24362	T	0.258093	0.62921	T	-0.222674	0.17629	T	-0.200148	0.54632	T	0.31828315087504	0.25752	T	0.952405	0.86103	D	0.2103099	0.43324	0.14086111	0.33563	0.2103099	0.43323	0.14086111	0.33562	-4.255	0.30082	T	.	.	0.084	0.34205	B	.;.;.	.;.;.	4.071720	0.60497	24.2	0.99930076362555398	0.99334	0.87554	0.47131	D	AEFDGBCIJ	0.583881	0.58293	D	0.509397026772344	0.67644	5.109184	0.452783713537131	0.64897	4.755687	0.999999862098202	0.74766	0.732398	0.92422	0	0.723133	0.82719	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	4.99	4.99	0.65942	1.653000	0.36940	4.891000	0.45764	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.988000	0.63387	0.1556:0.8444:0.0:0.0	13.580	0.61363	717	0.55835	Zinc finger C2H2-type;.;Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	997.43	85	chr6	57148345	.	C	T	997.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=3.66;DP=420;ExcessHet=0;FS=1.819;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.73;ReadPosRankSum=-0.925;SOR=0.821	GT:AD:DP:GQ:PL	0/1:52,33:85:99:1009,0,1409	9	0	1	0
chr6	73518506	73518506	C	T	exonic	EEF1A1	.	nonsynonymous SNV	EEF1A1:NM_001402:exon6:c.G877A:p.E293K	.	473	1036	13	0	0	13	0.00623501	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.583	0.134818783594	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1312467300	0.0004	0.0062	0.0003	0.0004	0.0012	0.0003	0.0003	0.0010	0.0009	6.024e-05	0.0001	0.0006	0	0.0001	0.0002	0.0003	0.0003	0.0012	0.0002	0.0021	0.0001	0.0002	0.0024	0.0001	0.0001	0.0014	0.0011	9.686e-05	0	6.65e-05	0	0	9.515e-05	0	0.0001	0.0005	0.0024	0.04	0.42199	D	0.035	0.52727	D	0.124	0.26825	B	0.127	0.32738	B	0.000000	0.84330	U	0.000000	1	0.81001	D	.	.	.	-0.23	0.66652	T	-2.97	0.61865	D	0.942	0.94904	0.029	0.82835	D	0.448	0.78342	T	10	0.8407221	0.83228	D	0.134819	0.81727	D	0.583	0.83249	.	.	0.897034101692	0.89601	0.8300957998537681	0.82968	1.5806642636	0.88385	0.857482016087	0.90739	D	0.544751	0.84477	D	0.342458	0.85998	D	0.254141	0.85814	D	0.591327620665166	0.36058	D	0.875412	0.58680	D	0.5682314	0.70963	0.44342095	0.67559	0.5682314	0.70964	0.44342095	0.67559	-12.759	0.88346	D	.	.	0.995	0.99585	P	.;.;.;.;.	.;.;.;.;.	4.902669	0.80590	27.4	0.99853741485947101	0.93279	0.95047	0.63245	D	AEFBHCI	0.936541	0.93302	D	0.486767721591307	0.66317	4.934478	0.495264674362681	0.67674	5.115977	1.0	0.98316	0.542737	0.22433	0	0.685571	0.66316	0	0.685571	0.62057	0	0.638787	0.57140	0	.	.	4.71	4.71	0.59010	7.573000	0.81745	1.746000	0.28438	0.599000	0.40250	1.000000	0.71638	0.998000	0.33993	0.978000	0.57271	0.0:1.0:0.0:0.0	18.092	0.89406	917	0.20147	Translation elongation factor EFTu-like, domain 2;Translation elongation factor EFTu-like, domain 2;Translation elongation factor EFTu-like, domain 2;Translation elongation factor EFTu-like, domain 2;Translation elongation factor EFTu-like, domain 2	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1	124.02	63	chr6	73518506	.	C	T	124.02	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-3.353;DP=477;ExcessHet=0.2348;FS=2;InbreedingCoeff=-0.1027;MLEAC=1;MLEAF=0.05;MQ=46.99;MQRankSum=-2.054;QD=1.05;ReadPosRankSum=1.16;SOR=0.481	GT:AD:DP:GQ:PL	0/1:55,8:63:8:8,0,1799	8	0	2	0
chr6	80007990	80007990	G	C	exonic	TTK	.	nonsynonymous SNV	TTK:NM_001166691:exon3:c.G321C:p.E107D,TTK:NM_003318:exon3:c.G321C:p.E107D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.607	0.126467273608	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	8.893e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.035	0.92824	D	0.999	0.77913	D	0.993	0.81110	D	0.000000	0.84330	D	0.000000	0.938546	0.37229	D	2.62	0.76659	M	-2.54	0.89496	D	-1.53	0.56787	N	0.406	0.46649	0.480	0.90261	D	0.698	0.89595	D	10	0.39968592	0.55478	T	0.126467	0.80813	D	0.607	0.84559	0.377	0.39156	0.756102065754	0.75388	0.29326060996924297	0.29239	0.586303879314	0.54233	0.593461692333	0.51983	T	0.093775	0.51827	T	0.153432	0.69590	D	-0.0173821	0.69202	D	0.93341064453125	0.60015	D	0.887811	0.64303	D	0.7694828	0.82017	0.34171048	0.59907	0.7694828	0.82018	0.34171048	0.59906	-9.025	0.67858	D	.	.	0.446	0.62023	A	.;.;.;.;.;.	.;.;.;.;.;.	4.273798	0.65043	24.8	0.99838627551170323	0.91972	0.91788	0.54264	D	AEFBI	0.340775	0.43748	N	0.324956302953043	0.57431	3.910505	0.282171109977361	0.54497	3.614648	0.999919670358034	0.45857	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.613276	0.41899	0	.	.	5.66	2.91	0.32903	2.081000	0.41220	5.042000	0.46920	-0.106000	0.15538	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.2117:0.0:0.7883:0.0	11.092	0.47344	827	0.39843	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3	2742.67	63	chr6	80007990	.	G	C	2742.67	.	AC=3;AF=0.3;AN=10;BaseQRankSum=-1.702;DP=385;ExcessHet=1.5895;FS=272.212;InbreedingCoeff=-0.4966;MLEAC=4;MLEAF=0.4;MQ=60;MQRankSum=0;QD=11.52;ReadPosRankSum=2.21;SOR=9.269	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:40,23:63:99:0|1:80007990_G_C:336,0,1401:80007990	2	0	3	5
chr6	80007992	80007997	GTTTTG	-	exonic	TTK	.	nonframeshift deletion	TTK:NM_001166691:exon3:c.323_328del:p.S108_A110delinsT,TTK:NM_003318:exon3:c.323_328del:p.S108_A110delinsT	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	1939.92	54	chr6	80007991	.	AGTTTTG	A	1939.92	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-2.161;DP=517;ExcessHet=1.5895;FS=207.722;InbreedingCoeff=-0.25;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=8.43;ReadPosRankSum=2.12;SOR=8.814	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:41,5:54:7:.:.:191,0,1754:.	8	0	2	0
chr6	80007995	80007995	-	CCCC	exonic	TTK	.	frameshift insertion	TTK:NM_001166691:exon3:c.326_327insCCCC:p.A110Pfs*3,TTK:NM_003318:exon3:c.326_327insCCCC:p.A110Pfs*3	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.315e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	993.41	50	chr6	80007995	.	T	TCCCC	993.41	.	AC=2;AF=0.25;AN=8;BaseQRankSum=0.18;DP=356;ExcessHet=6.4098;FS=299.871;InbreedingCoeff=-0.2364;MLEAC=3;MLEAF=0.375;MQ=60;MQRankSum=0;QD=4.89;ReadPosRankSum=1.76;SOR=9.23	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:28,8:50:99:.:.:727,0,1163:.	2	0	2	6
chr6	129402436	129402436	A	T	exonic	LAMA2	.	nonsynonymous SNV	LAMA2:NM_000426:exon39:c.A5675T:p.Q1892L,LAMA2:NM_001079823:exon39:c.A5675T:p.Q1892L	Muscular dystrophy, congenital merosin-deficient, Autosomal recessive;Muscular dystrophy, congenital, due to partial LAMA2 deficiency, Autosomal recessive	0	1521	1	0	0	1	0.000328623	.	.	YES	428507	not_specified|LAMA2-related_muscular_dystrophy|not_provided	MedGen:CN169374|MONDO:MONDO:0100228,MedGen:C5679788|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.095	0.0104401302647	.	.	8.256e-06	0	0	0	0	1.501e-05	0	0	1.29e-05	2	154602	rs779542581	1.3e-05	1.3e-05	9.529e-06	1.65e-05	0.0002	8.31e-06	6.7e-06	8.1e-06	6.42e-06	0	2.236e-05	0	0	0	0.0002	1.349e-05	3.312e-05	0	1.97e-05	1.968e-05	1.285e-05	2.686e-05	0.0004	5.24e-06	2.45e-06	7.287e-05	3.028e-05	2.406e-05	0	0	0	0	0	0	0	0	0.0004	0.009	0.57480	D	.	.	.	0.937	0.52445	P	0.4	0.44481	B	0.004687	0.33486	N	0.294219	0.91143	0.36422	D	2.24	0.63355	M	2.11	0.19860	T	-3.39	0.66896	D	0.561	0.58543	-1.1030	0.03747	T	0.029	0.12585	T	10	0.38149348	0.54227	T	0.01044	0.26980	T	0.095	0.27398	0.487	0.57098	0.59634542923	0.59313	0.41109830527315216	0.41025	0.110571958066	0.12480	0.381315410137	0.22443	T	0.056	0.67739	T	-0.201474	0.20591	T	-0.419523	0.31129	T	0.551844477653503	0.34547	D	0.810819	0.46223	T	0.25149247	0.48158	0.28987747	0.55009	0.25149247	0.48158	0.28987747	0.55009	-3.613	0.18045	T	0.27700814633320897	0.37167	0.085	0.10208	B	.;.;.	.;.;.	2.901118	0.38450	20.7	0.98377695676234445	0.40822	0.95858	0.66456	D	AEFDGBHCI	0.451901	0.50568	N	0.274391933130924	0.54854	3.650121	0.271472075864794	0.53881	3.554972	0.997488805964499	0.35668	0.516011	0.20929	0	0.563428	0.19063	0	0.597571	0.31856	0	0.586402	0.36253	0	.	.	5.89	2.19	0.26890	5.181000	0.64892	2.185000	0.31161	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.8128:0.0:0.1872:0.0	9.857	0.40261	884	0.28482	.;.;.	.	.	.	.	.	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	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.05	1267.43	82	chr6	129402436	.	A	T	1267.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.06;DP=426;ExcessHet=0;FS=0.843;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=15.46;ReadPosRankSum=-1.585;SOR=0.814	GT:AD:DP:GQ:PL	0/1:37,45:82:99:1279,0,971	9	0	1	0
chr6	132694054	132694054	C	T	exonic	VNN1	.	nonsynonymous SNV	VNN1:NM_004666:exon3:c.G470A:p.R157H	.	426	1069	26	1	0	28	0.0129271	.	.	.	699322	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.250	0.0279564274236	0.0053	0.00299521	0.0063	0.0009	0.0030	0	0.0041	0.0084	0.0055	0.0079	0.0060995	943	154602	rs150683215	0.0061	0.0061	0.0058	0.0064	0.0088	0.0060	0.0059	0.0083	0.0081	0.0011	0.0035	0.0083	2.519e-05	0.0057	0.0078	0.0063	0.0058	0.0088	0.0062	0.0062	0.0060	0.0063	0.0106	0.0058	0.0057	0.0090	0.0088	0.0009	0	0.0080	0.0055	0.0002	0.0041	0.0068	0.0097	0.0028	0.0106	0.097	0.30943	T	0.168	0.30631	T	0.041	0.21357	B	0.077	0.28532	B	0.012407	0.29184	N	0.336386	1	0.08975	N	2.045	0.56016	M	-2.02	0.85542	D	-1.75	0.41428	N	0.225	0.25253	-0.7858	0.55973	T	0.286	0.65792	T	10	0.009795427	0.00220	T	0.027956	0.50703	D	0.250	0.55888	.	.	0.459818148978	0.45609	0.3778433226994323	0.37699	0.0433830160621	0.04671	0.250777333975	0.03850	T	0.259232	0.63048	T	-0.406631	0.02094	T	-0.3439	0.39902	T	0.0104873549408807	0.00145	T	0.763624	0.39028	T	0.36918196	0.58524	0.132921	0.31884	0.36918196	0.58525	0.132921	0.31883	-6.706	0.51855	T	.	.	0.063	0.01491	B	.	.	2.366583	0.30359	18.41	0.97984939592233244	0.37356	0.10532	0.16013	N	AEFDBHCI	0.218317	0.34333	N	-0.645805610194577	0.17582	0.9059889	-0.567105415369334	0.20354	1.096186	0.967819588761343	0.29005	0.55562	0.30534	0	0.68496	0.65989	0	0.615948	0.41167	0	0.542086	0.14980	0	.	.	6.07	3.99	0.45527	0.015000	0.13250	-0.573000	0.08416	-0.186000	0.09761	0.002000	0.15269	0.000000	0.08366	0.995000	0.73285	0.0:0.7422:0.0:0.2578	11.427	0.49261	892	0.26670	Carbon-nitrogen hydrolase|Carbon-nitrogen hydrolase	.	.	.	.	rs150683215	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.005035	0.010101	0.004076	0.002924	0.000000	0.000000	0.006098	0.007576	0.05	1456.43	124	chr6	132694054	.	C	T	1456.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.778;DP=435;ExcessHet=0;FS=0.665;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.75;ReadPosRankSum=-0.068;SOR=0.773	GT:AD:DP:GQ:PL	0/1:64,60:124:99:1468,0,1500	9	0	1	0
chr6	149378547	149378547	A	G	exonic	TAB2	.	nonsynonymous SNV	TAB2:NM_001292034:exon3:c.A632G:p.N211S,TAB2:NM_001292035:exon3:c.A536G:p.N179S,TAB2:NM_001369506:exon4:c.A632G:p.N211S,TAB2:NM_015093:exon5:c.A632G:p.N211S	Congenital heart defects, nonsyndromic, 2, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.289	0.0174232180529	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.097e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.279	0.15561	T	0.308	0.19845	T	0.993	0.65571	D	0.956	0.69739	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.135	0.59519	M	-0.73	0.73100	T	-0.76	0.21215	N	0.832	0.82761	-0.6069	0.64532	T	0.286	0.65763	T	10	0.41120163	0.56237	T	0.017423	0.39111	T	0.289	0.60808	0.142	0.04556	0.838873866338	0.83733	0.5868442608649261	0.58614	0.921335754619	0.71472	0.701119542122	0.67305	T	0.222447	0.58630	T	-0.0361796	0.46514	T	-0.289746	0.45798	T	0.672599494457245	0.39454	D	0.943606	0.78679	D	0.07764685	0.17636	0.09442277	0.22350	0.07764685	0.17635	0.09442277	0.22350	-3.035	0.10563	T	0.6447677205311815	0.71602	0.165	0.36335	B	.;.;.	.;.;.	3.080831	0.41449	21.4	0.94975233418001004	0.25908	0.99224	0.93061	D	AEGBI	.	.	.	0.18399020640354	0.50429	3.23311	0.184305151337975	0.48988	3.107472	0.999995086728048	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.96	4.81	0.61401	8.718000	0.91150	11.270000	0.91373	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.965000	0.52897	0.9329:0.0:0.0671:0.0	12.018	0.52617	761	0.50382	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.15	369.45	255	chr6	149378547	.	A	G	369.45	.	AC=3;AF=0.15;AN=20;BaseQRankSum=-5.947;DP=1056;ExcessHet=0.7463;FS=165.392;InbreedingCoeff=-0.1765;MLEAC=3;MLEAF=0.15;MQ=60;MQRankSum=0;QD=0.46;ReadPosRankSum=2.26;SOR=10.473	GT:AD:DP:GQ:PL	0/1:198,57:255:94:94,0,4391	7	0	3	0
chr6	149451015	149451015	G	T	exonic	ZC3H12D	.	nonsynonymous SNV	ZC3H12D:NM_207360:exon6:c.C1252A:p.R418S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025	0.130713132173	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1156994944	0	5.472e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.44	0.09264	T	0.851	0.03497	T	0.003	0.11197	B	0.001	0.04355	B	.	.	.	.	1	0.08975	N	0.55	0.14455	N	1.54	0.30133	T	0.43	0.03297	N	0.064	0.03613	-1.0092	0.27167	T	0.011	0.04042	T	9	0.043053687	0.03115	T	0.130713	0.81290	D	0.026	0.05648	0.407	0.44066	0.043077524339	0.03247	0.18436136263063996	0.18355	1.10467441802	0.77849	0.537124276161	0.44040	T	0.004372	0.03778	T	-0.34767	0.04875	T	-0.737181	0.04010	T	0.0548048887784597	0.06324	T	0.332367	0.07003	T	0.0834783	0.19278	0.068219036	0.14216	0.0834783	0.19278	0.068219036	0.14216	-3.647	0.18539	T	.	.	0.106	0.19679	B	.	.	-0.462783	0.01989	0.174	0.91745948677537414	0.21045	0.01480	0.04926	N	AEFDGBHCI	0.048449	0.08269	N	-1.54653482695376	0.01555	0.06792362	-1.67171193664577	0.01268	0.05715112	0.999999999641245	0.74766	0.59774	0.34471	0	0.577304	0.33150	0	0.503968	0.08637	0	0.63947	0.58350	0	.	.	3.01	-6.02	0.02008	-2.613000	0.00957	-5.096000	0.01851	0.597000	0.34315	0.000000	0.06391	0.000000	0.08366	0.020000	0.11549	0.3398:0.3209:0.2195:0.1198	1.727	0.02748	870	0.31527	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	463.43	40	chr6	149451015	.	G	T	463.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.24;DP=349;ExcessHet=0;FS=5.012;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.59;ReadPosRankSum=-0.177;SOR=0.223	GT:AD:DP:GQ:PL	0/1:22,18:40:99:475,0,664	9	0	1	0
chr6	150809435	150809435	G	A	exonic	PLEKHG1	.	nonsynonymous SNV	PLEKHG1:NM_001329803:exon7:c.G1033A:p.V345I,PLEKHG1:NM_001329798:exon9:c.G1327A:p.V443I,PLEKHG1:NM_001329799:exon9:c.G1270A:p.V424I,PLEKHG1:NM_001329800:exon9:c.G1150A:p.V384I,PLEKHG1:NM_001329801:exon9:c.G1150A:p.V384I,PLEKHG1:NM_001329802:exon9:c.G1150A:p.V384I,PLEKHG1:NM_001329806:exon9:c.G1150A:p.V384I,PLEKHG1:NM_001029884:exon10:c.G1150A:p.V384I,PLEKHG1:NM_001329805:exon10:c.G1150A:p.V384I,PLEKHG1:NM_001329804:exon11:c.G1150A:p.V384I	.	425	1096	0	1	0	2	0.000911577	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.444	0.0290847254055	.	.	2.472e-05	0	0	0.0001	0	2.998e-05	0	0	1.94e-05	3	154602	rs775628646	3.558e-05	3.557e-05	3.676e-05	3.438e-05	5.038e-05	2.763e-05	2.502e-05	2.828e-05	2.507e-05	2.987e-05	4.472e-05	0	5.038e-05	0	0	3.777e-05	6.624e-05	1.159e-05	2.63e-05	2.627e-05	2.57e-05	2.692e-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	0.11	0.29158	T	0.0	0.92824	D	0.971	0.57185	D	0.588	0.50402	P	0.000000	0.84330	D	0.000000	1	0.81001	D	1.305	0.32671	L	-1.96	0.85091	D	-0.92	0.24676	N	0.188	0.20528	0.119	0.84512	D	0.628	0.86956	D	10	0.3749794	0.53762	T	0.029085	0.51659	D	0.444	0.74657	0.461	0.52916	0.844846872285	0.84336	0.2123374119373331	0.21149	.	.	0.660893559456	0.61538	T	0.050644	0.28655	T	-0.0412105	0.45769	T	-0.100001	0.63398	T	0.244261480217318	0.22614	T	0.922708	0.71908	D	0.14030205	0.32375	0.21240288	0.45708	0.14030205	0.32375	0.21240288	0.45708	-6.613	0.51153	T	.	.	0.110	0.21049	B	.;.	.;.	4.387210	0.67679	25.1	0.99885446351303664	0.96049	0.98863	0.87857	D	AEFBI	0.837598	0.75522	D	0.717693843353111	0.80791	7.373475	0.750928592444481	0.86227	8.822123	0.999999999999985	0.74766	0.562547	0.31514	0	0.653731	0.59785	0	0.618467	0.43123	0	0.635551	0.53088	0	.	.	5.78	5.78	0.91418	8.002000	0.88029	5.143000	0.47720	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:1.0:0.0	20.020	0.97498	967	0.07127	Pleckstrin homology domain|Pleckstrin homology domain;Pleckstrin homology domain|Pleckstrin homology domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1229.43	82	chr6	150809435	.	G	A	1229.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.2;DP=394;ExcessHet=0;FS=4.489;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.99;ReadPosRankSum=-0.529;SOR=0.309	GT:AD:DP:GQ:PL	0/1:41,41:82:99:1241,0,1153	9	0	1	0
chr6	150831254	150831254	G	A	exonic	PLEKHG1	.	nonsynonymous SNV	PLEKHG1:NM_001329803:exon13:c.G2026A:p.A676T,PLEKHG1:NM_001329802:exon14:c.G2104A:p.A702T,PLEKHG1:NM_001329798:exon15:c.G2320A:p.A774T,PLEKHG1:NM_001329799:exon15:c.G2263A:p.A755T,PLEKHG1:NM_001329800:exon15:c.G2143A:p.A715T,PLEKHG1:NM_001329801:exon15:c.G2143A:p.A715T,PLEKHG1:NM_001029884:exon16:c.G2143A:p.A715T	.	425	1073	20	4	0	28	0.0128795	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.023	.	0.0034	0.028754	0.0152	0.0016	0.0021	0.1465	0.0017	0.0041	0.0088	0.0147	0.0144371	2232	154602	rs79596384	0.0091	0.0091	0.0091	0.0092	0.1325	0.0090	0.0090	0.1295	0.1283	0.0013	0.0021	0.0012	0.1325	0.0013	0.0054	0.0050	0.0137	0.0168	0.0083	0.0084	0.0077	0.0090	0.1353	0.0079	0.0078	0.1270	0.1236	0.0015	0	0.0022	0.0014	0.1353	0.0005	0.0034	0.0051	0.0085	0.0203	1.0	0.00964	T	0.572	0.08746	T	0.001	0.07471	B	0.0	0.01387	B	0.694776	0.10144	N	0.885659	1	0.08975	N	-1.405	0.00592	N	0.33	0.58323	T	-0.86	0.23372	N	0.007	0.00055	-1.0098	0.26981	T	0.020	0.08407	T	10	0.0015370548	0.00017	T	.	.	.	0.023	0.04649	.	.	.	.	0.06310798256465852	0.06249	.	.	0.208453893661	0.00747	T	0.004097	0.03512	T	-0.767083	0.00014	T	-0.744818	0.03691	T	0.0019185261821764	0.00020	T	0.385761	0.09460	T	0.03489112	0.04004	0.044500437	0.05781	0.03489112	0.04004	0.044500437	0.05781	-3.454	0.15794	T	.	.	0.064	0.01909	B	.;.	.;.	-1.437036	0.00335	0.006	0.75896630633282236	0.11253	0.02693	0.07333	N	AEFBI	0.038027	0.05321	N	-1.52829799366686	0.01666	0.0728699	-1.52173222194463	0.02177	0.09975195	0.929668500685307	0.26977	0.638212	0.43195	0	0.670034	0.63936	0	0.602189	0.34648	0	0.636168	0.56350	0	.	.	5.61	-3.34	0.04635	-1.969000	0.01596	-4.017000	0.02391	-0.894000	0.02369	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.3227:0.3114:0.2663:0.0996	2.436	0.04209	960	0.08626	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.005539	0.000000	0.001359	0.000000	0.000000	0.017241	0.006098	0.015152	0.05	1525.43	99	chr6	150831254	.	G	A	1525.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.457;DP=1037;ExcessHet=0;FS=3.775;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=15.41;ReadPosRankSum=0.758;SOR=0.742	GT:AD:DP:GQ:PL	0/1:42,57:99:99:1537,0,1080	9	0	1	0
chr6	152331115	152331115	C	G	exonic	SYNE1	.	nonsynonymous SNV	SYNE1:NM_033071:exon77:c.G13357C:p.V4453L,SYNE1:NM_182961:exon78:c.G13570C:p.V4524L	Emery-Dreifuss muscular dystrophy 4, autosomal dominant, Autosomal dominant;Spinocerebellar ataxia, autosomal recessive 8, Autosomal recessive	.	.	.	.	.	.	.	.	.	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	0.031	0.00754825800838	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	0.034	0.53072	D	0.003	0.11197	B	0.004	0.10090	B	0.325020	0.14208	N	0.660669	1	0.81001	D	0.69	0.16971	N	1.38	0.34050	T	-0.86	0.23372	N	0.117	0.11340	-0.9824	0.34445	T	0.014	0.05513	T	10	0.042183667	0.02943	T	0.007548	0.20033	T	0.031	0.07369	0.323	0.30387	0.170165803431	0.16609	0.20548542717459714	0.20465	0.130822632684	0.14758	0.293257117271	0.09399	T	0.127862	0.45515	T	-0.311759	0.07593	T	-0.685596	0.06647	T	0.025374189688588	0.01322	T	0.79652	0.44001	T	0.047435828	0.08107	0.051205635	0.08193	0.047435828	0.08107	0.051205635	0.08192	-0.288	0.00468	T	.	.	0.131	0.28145	B	.;.	.;.	0.577523	0.09458	6.239	0.69415960505877994	0.08965	0.95287	0.64137	D	AEFDBI	0.517551	0.54362	D	-0.98190325063367	0.08989	0.4236828	-0.848130851139563	0.13332	0.6910612	0.0729640935166664	0.15619	0.554377	0.28877	0	0.573888	0.26702	0	0.573888	0.23631	0	0.567892	0.33627	0	.	.	6.03	0.886	0.18329	1.409000	0.34288	-0.077000	0.12225	-0.313000	0.06017	1.000000	0.71638	0.000000	0.08366	0.599000	0.31363	0.0:0.5304:0.1169:0.3527	6.318	0.20409	847	0.35998	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2143	326.48	164	chr6	152331115	.	C	G	326.48	.	AC=3;AF=0.214;AN=14;BaseQRankSum=-4.324;DP=1368;ExcessHet=0.7463;FS=279.975;InbreedingCoeff=-0.2893;MLEAC=4;MLEAF=0.286;MQ=60;MQRankSum=0;QD=0.81;ReadPosRankSum=1.19;SOR=11.121	GT:AD:DP:GQ:PL	0/1:117,40:164:19:19,0,2782	4	0	3	3
chr6	170561964	170561964	G	0	exonic	TBP	.	.	.	Spinocerebellar ataxia 17, Autosomal dominant	68	560	433	93	368	987	0.355952	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	14892.7	98	chr6	170561964	.	G	*	14892.7	.	AC=5;AF=0.25;AN=20;BaseQRankSum=-0.521;DP=1587;ExcessHet=1.5895;FS=1.983;InbreedingCoeff=-0.25;MLEAC=5;MLEAF=0.25;MQ=59.98;MQRankSum=0;QD=17.24;ReadPosRankSum=3.16;SOR=0.531	GT:AD:DP:GQ:PGT:PID:PL:PS	1|0:0,69:98:99:1|0:170561949_GCAA_G:4728,1133,801:170561949	5	0	5	0
chr7	2646946	2646946	C	T	exonic	TTYH3	.	nonsynonymous SNV	TTYH3:NM_025250:exon2:c.C217T:p.R73C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.236	0.0764809837884	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1324679621	3.453e-06	1.915e-05	2.749e-06	4.164e-06	0.0002	1.01e-06	7.4e-07	1.594e-05	9.37e-06	0	0	0	0	0	0.0002	0	0	4.687e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.022	0.63226	D	0.002	0.83351	D	1.0	0.90584	D	0.959	0.70163	D	0.000131	0.49741	D	0.171092	0.999983	0.54805	D	2.64	0.77224	M	2.55	0.13795	T	-2.43	0.63323	N	0.634	0.65930	-1.0716	0.09065	T	0.092	0.35174	T	10	0.4432236	0.58234	T	0.076481	0.72541	D	0.236	0.53931	0.502	0.59460	0.143184338766	0.13958	0.6211951010481327	0.62052	0.388535252049	0.40113	0.751979410648	0.74738	T	0.278326	0.65098	T	-0.0848433	0.38924	T	-0.359648	0.38094	T	0.84624719619751	0.49845	D	0.972403	0.89999	D	0.103265755	0.24407	0.095759876	0.22725	0.103265755	0.24407	0.095759876	0.22724	-9.169	0.68778	D	.	.	0.139	0.48551	B	.;.;.	.;.;.	5.118959	0.85616	28.7	0.99905579275119227	0.97651	0.96808	0.71050	D	ALL	0.661771	0.63188	D	0.476204980437262	0.65704	4.856049	0.416011669079748	0.62563	4.473676	0.99999999999545	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.648423	0.49468	0	0.711	0.71501	0	.	.	4.96	4.05	0.46415	1.838000	0.38851	4.818000	0.45095	0.524000	0.24156	0.985000	0.35982	1.000000	0.68203	0.997000	0.79791	0.1558:0.8442:0.0:0.0	14.175	0.65071	940	0.13648	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1147.43	75	chr7	2646946	.	C	T	1147.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.94;DP=388;ExcessHet=0;FS=0.902;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=15.3;ReadPosRankSum=-0.767;SOR=0.897	GT:AD:DP:GQ:PL	0/1:34,41:75:99:1159,0,710	9	0	1	0
chr7	4783439	4783439	A	G	exonic	AP5Z1	.	nonsynonymous SNV	AP5Z1:NM_001364858:exon3:c.A22G:p.S8G,AP5Z1:NM_014855:exon4:c.A490G:p.S164G	Spastic paraplegia 48, autosomal recessive, Autosomal recessive	3	1518	1	0	0	1	0.000329272	.	.	.	522686	Hereditary_spastic_paraplegia_48	MONDO:MONDO:0013342,MedGen:C3150901,OMIM:613647,Orphanet:306511	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.019	.	.	0.00159744	0.0009	0	8.703e-05	0.0113	0	3.067e-05	0.0011	6.078e-05	0.0007438	115	154602	rs202169962	0.0002	0.0002	0.0003	0.0002	0.0078	0.0002	0.0002	0.0070	0.0068	0	2.237e-05	0	0.0078	0	0	1.619e-05	0.0002	0.0001	0.0004	0.0004	0.0004	0.0004	0.0108	0.0003	0.0003	0.0086	0.0078	0	0	0	0	0.0108	0	0	2.943e-05	0	0	0.352	0.12226	T	0.189	0.28575	T	0.818	0.45651	P	0.167	0.35118	B	0.121729	0.18984	N	0.540472	0.984411	0.24802	N	1.495	0.37439	L	0.84	0.47477	T	-1.59	0.38345	N	0.253	0.28616	-1.0780	0.07741	T	0.047	0.20235	T	10	0.0052919686	0.00116	T	.	.	.	0.019	0.03383	.	.	0.0401082797425	0.02173	0.21220251088373052	0.21136	.	.	0.332176625729	0.15263	T	0.033216	0.22822	T	-0.58374	0.00183	T	-0.60089	0.12738	T	0.019116103758397	0.00619	T	0.669433	0.27806	T	0.03521181	0.04101	0.03242577	0.01976	0.04128214	0.06050	0.041483596	0.04724	-4.258	0.27584	T	0.16403118835802796	0.20246	0.119	0.24363	B	.;.	.;.	1.728246	0.21999	15.44	0.97224564719569506	0.32919	0.02030	0.06086	N	AEFDGBCI	0.020288	0.00786	N	-0.468726729428824	0.23109	1.238737	-0.510561364328534	0.21866	1.184927	0.947777833928344	0.27769	0.706548	0.73137	0	0.697927	0.68747	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	4.66	2.36	0.28258	0.579000	0.23490	4.632000	0.44120	0.756000	0.94297	0.000000	0.06391	1.000000	0.68203	0.248000	0.23210	0.1366:0.0:0.6093:0.2541	5.678	0.17034	917	0.20147	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.05	799.43	56	chr7	4783439	.	A	G	799.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.069;DP=387;ExcessHet=0;FS=1.093;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.28;ReadPosRankSum=0.717;SOR=0.536	GT:AD:DP:GQ:PL	0/1:25,31:56:99:811,0,720	9	0	1	0
chr7	5064219	5064219	C	G	exonic	RBAK	.	nonsynonymous SNV	RBAK:NM_021163:exon5:c.C763G:p.Q255E,RBAK:NM_001204456:exon6:c.C763G:p.Q255E	.	414	1106	2	0	0	2	0.000903342	.	.	.	3902417	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.041	0.00241158985839	7.7e-05	.	0.0001	0	0	0	0	0.0002	0	0.0004	0.0001229	19	154602	rs374659981	0.0002	0.0002	0.0002	0.0002	0.0005	0.0002	0.0002	0.0002	0.0002	2.988e-05	4.475e-05	0	0	0	0.0005	0.0002	0.0002	0.0003	9.854e-05	0.0001	0.0001	8.061e-05	0.0004	6.005e-05	4.879e-05	0.0001	7.896e-05	0	0	0	0	0	0	0.0034	0.0002	0	0.0004	0.151	0.24564	T	0.069	0.43913	T	0.074	0.24142	B	0.024	0.20255	B	0.152723	0.17914	N	0.470650	.	.	.	0.45	0.12780	N	2.47	0.14783	T	-0.21	0.10308	N	0.214	0.23884	-1.0312	0.20066	T	0.023	0.09741	T	8	0.06750217	0.09413	T	0.002412	0.04729	T	0.041	0.10877	.	.	0.350088858571	0.34617	0.0817366805797264	0.08108	0.0867180676216	0.09781	0.374523103237	0.21478	T	0.025505	0.19059	T	-0.399368	0.02337	T	-0.511117	0.21201	T	0.0448010979858898	0.04566	T	0.0210979	0.00117	T	0.09760663	0.23010	0.10446064	0.25090	0.09760663	0.23010	0.10446064	0.25089	-5.699	0.43685	T	.	.	0.081	0.08320	B	.;.	.;.	2.791257	0.36690	20.3	0.97399715569745671	0.33765	0.02447	0.06888	N	AEFDBHCI	0.410154	0.48115	N	-0.445920689455066	0.23879	1.285432	-0.346246898251081	0.26625	1.471891	0.918327378679089	0.26568	0.67177	0.52595	0	0.702456	0.74545	0	0.575934	0.27490	0	0.674467	0.66132	0	.	.	3.67	2.77	0.31614	4.589000	0.60715	4.853000	0.45395	0.549000	0.26987	0.999000	0.42656	1.000000	0.68203	0.998000	0.85391	0.1944:0.8056:0.0:0.0	10.59	0.44494	917	0.20147	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1273.43	95	chr7	5064219	.	C	G	1273.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.945;DP=415;ExcessHet=0;FS=1.654;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.4;ReadPosRankSum=-0.285;SOR=0.527	GT:AD:DP:GQ:PL	0/1:53,42:95:99:1285,0,1602	9	0	1	0
chr7	5428077	5428077	C	T	exonic	LOC100129484	.	nonsynonymous SNV	LOC100129484:NM_001354886:exon1:c.G172A:p.A58T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.017	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1395712428	1.318e-05	6.361e-06	2.295e-05	5.785e-06	1.891e-05	4.08e-06	2.08e-06	5.03e-06	2.4e-06	0	0	0	0	0	0	1.891e-05	7.038e-05	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	.	.	.	.	.	.	.	.	0.07143	32.43	3	chr7	5428077	.	C	T	32.43	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.967;DP=17;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.81;ReadPosRankSum=-0.967;SOR=0.223	GT:AD:DP:GQ:PL	0/1:1,2:3:34:40,0,34	6	0	1	3
chr7	12380643	12380643	G	C	exonic	VWDE	.	nonsynonymous SNV	VWDE:NM_001135924:exon5:c.C632G:p.S211C,VWDE:NM_001346972:exon5:c.C632G:p.S211C,VWDE:NM_001346973:exon5:c.C167G:p.S56C	.	439	1041	40	2	0	44	0.0206961	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.317	.	0.0002	0.00299521	0.0071	0.0004	0.0024	0	0.0012	0.0005	0	0.0191	0.0012484	193	154602	rs201430222	0.0014	0.0013	0.0008	0.0019	0.0163	0.0013	0.0013	0.0155	0.0152	6.33e-05	0.0004	0.0004	2.798e-05	0.0002	0.0102	0.0004	0.0017	0.0163	0.0009	0.0009	0.0007	0.0012	0.0147	0.0008	0.0008	0.0120	0.0110	4.812e-05	0	0.0007	0.0006	0	0.0003	0.0136	0.0007	0.0019	0.0147	0.019	0.50132	D	0.015	0.61642	D	0.761	0.43566	P	0.338	0.42306	B	.	.	.	.	0.965048	0.25955	N	1.495	0.37439	L	-1.67	0.82806	D	-2.2	0.49519	N	0.162	0.17002	-0.4008	0.72001	T	0.416	0.76279	T	9	0.008293569	0.00188	T	.	.	.	0.317	0.63904	.	.	0.343334270461	0.33943	0.20029899394606046	0.19946	.	.	0.376162022352	0.21712	T	0.039527	0.25219	T	-0.420008	0.01710	T	-0.361152	0.37918	T	0.024809887274748	0.01248	T	0.578142	0.20837	T	0.16607872	0.36921	0.15976596	0.37245	0.16607872	0.36920	0.15976596	0.37244	-11.404	0.81827	D	.	.	0.167	0.36712	B	.	.	3.624016	0.51305	23.1	0.98969845649481181	0.49501	0.95695	0.65763	D	AEFBI	0.631091	0.61219	D	0.196351805118652	0.51024	3.287046	0.249341905279831	0.52612	3.434912	0.999978700190465	0.50053	0.615465	0.37627	0	0.573888	0.26702	0	0.658983	0.55881	0	0.613276	0.41899	0	.	.	4.98	4.98	0.65679	2.332000	0.43561	5.528000	0.48839	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.775000	0.36711	0.0:0.0:0.843:0.157	13.417	0.60423	837	0.37933	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003589	0.000000	0.000000	0.013043	0.000000	0.000000	0.005618	0.012195	0.15	4567.45	134	chr7	12380643	.	G	C	4567.45	.	AC=3;AF=0.15;AN=20;BaseQRankSum=0.117;DP=621;ExcessHet=0.7463;FS=0.832;InbreedingCoeff=-0.1765;MLEAC=3;MLEAF=0.15;MQ=60;MQRankSum=0;QD=13.24;ReadPosRankSum=0.312;SOR=0.628	GT:AD:DP:GQ:PL	0/1:68,66:134:99:1745,0,1935	7	0	3	0
chr7	21742035	21742035	A	G	exonic	DNAH11	.	nonsynonymous SNV	DNAH11:NM_001277115:exon49:c.A8023G:p.I2675V	Ciliary dyskinesia, primary, 7, with or without situs inversus, Autosomal recessive	0	1517	5	0	0	5	0.00164528	.	.	.	252729	Primary_ciliary_dyskinesia|not_specified|Primary_ciliary_dyskinesia_7|not_provided	Human_Phenotype_Ontology:HP:0012265,MONDO:MONDO:0016575,MedGen:C0008780,OMIM:PS244400,Orphanet:244|MedGen:CN169374|MONDO:MONDO:0012748,MedGen:C2678473,OMIM:611884,Orphanet:244|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.014	0.00111298364262	0.0029	0.00399361	0.0020	0.0086	0.0046	0.0029	0.0002	0.0010	0.0044	0.0005	0.0019857	307	154602	rs72657364	0.0015	0.0015	0.0015	0.0014	0.0102	0.0014	0.0014	0.0094	0.0091	0.0076	0.0037	0	0.0102	7.491e-05	0.0038	0.0010	0.0020	0.0005	0.0032	0.0032	0.0031	0.0032	0.0082	0.0029	0.0028	0.0074	0.0072	0.0082	0	0.0028	0	0.0046	9.425e-05	0.0034	0.0009	0.0043	0.0010	1.0	0.00964	T	.	.	.	.	.	.	.	.	.	0.000879	0.41335	N	0.238687	1	0.08975	N	.	.	.	1.24	0.36691	T	0.26	0.04380	N	0.1	0.09207	-0.9878	0.33151	T	0.021	0.08778	T	9	0.0054730177	0.00121	T	0.001113	0.01336	T	0.014	0.01968	.	.	0.12205267543	0.11705	0.21876337597791215	0.21792	.	.	0.239304602146	0.02728	T	0.035558	0.23766	T	-0.658636	0.00064	T	-0.712039	0.05191	T	1.32037075672997e-05	0.00000	T	0.338366	0.07261	T	0.021232137	0.00715	0.044969555	0.05946	0.022033995	0.00840	0.043356016	0.05376	-1.886	0.02778	T	0.09856666813032602	0.07062	0.067	0.02488	B	.;.;.	.;.;.	-0.478682	0.01936	0.164	0.16861444570847522	0.00469	0.01139	0.04132	N	AEFBI	0.024178	0.01456	N	-1.19757935269847	0.05036	0.2286885	-1.1722595944517	0.06376	0.306745	1.73252193627429E-5	0.02871	0.615465	0.37627	0	0.573888	0.26702	0	0.658983	0.55881	0	0.564101	0.26826	0	.	.	5.47	-1.27	0.08863	0.670000	0.24838	-0.785000	0.07438	-2.811000	0.00182	0.308000	0.25396	0.000000	0.08366	0.007000	0.07825	0.2159:0.2846:0.4995:0.0	7.990	0.29398	867	0.32089	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.004028	0.005051	0.006793	0.000000	0.000000	0.000000	0.000000	0.000000	0.05	2908.43	206	chr7	21742035	.	A	G	2908.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.109;DP=523;ExcessHet=0;FS=3.176;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.12;ReadPosRankSum=-1.671;SOR=0.913	GT:AD:DP:GQ:PL	0/1:98,108:206:99:2920,0,2675	9	0	1	0
chr7	27094575	27094578	ACCC	-	exonic	HOXA1	.	frameshift deletion	HOXA1:NM_005522:exon2:c.870_873del:p.E290Dfs*41	Athabaskan brainstem dysgenesis syndrome;Bosley-Salih-Alorainy syndrome	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	128.48	191	chr7	27094574	.	GACCC	G	128.48	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-0.838;DP=649;ExcessHet=0.2348;FS=132.811;InbreedingCoeff=-0.1055;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=0.38;ReadPosRankSum=2.2;SOR=7.523	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:165,26:191:99:0|1:27094574_GACCC_G:135,0,6405:27094574	8	0	2	0
chr7	27094578	27094578	-	GGGG	exonic	HOXA1	.	frameshift insertion	HOXA1:NM_005522:exon2:c.869_870insCCCC:p.E290Dfs*128	Athabaskan brainstem dysgenesis syndrome;Bosley-Salih-Alorainy syndrome	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	297.11	189	chr7	27094578	.	C	CGGGG	297.11	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-1.654;DP=802;ExcessHet=0.2348;FS=90.403;InbreedingCoeff=-0.1114;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=0.82;ReadPosRankSum=2.17;SOR=8.608	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:163,26:189:99:0|1:27094574_GACCC_G:141,0,6364:27094574	8	0	2	0
chr7	39339680	39339680	-	A	exonic	POU6F2	.	frameshift insertion	POU6F2:NM_001370959:exon5:c.637_638insA:p.L213Hfs*94,POU6F2:NM_001166018:exon6:c.550_551insA:p.L184Hfs*94,POU6F2:NM_007252:exon6:c.550_551insA:p.L184Hfs*94	.	1	1503	15	0	3	18	0.00496524	.	.	.	4008052	Wilms_tumor_5	MONDO:MONDO:0011112,MedGen:C1832099,OMIM:601583,Orphanet:654	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	.	.	.	.	0.0006	0	0	0	0.0018	0.0002	0.0038	0.0033	0.0004398	68	154602	rs766603583	0.0010	0.0014	0.0008	0.0012	0.0064	0.0009	0.0009	0.0060	0.0058	0.0001	0.0006	0.0007	0	0.0021	0.0026	0.0006	0.0009	0.0064	0.0013	0.0014	0.0011	0.0015	0.0077	0.0012	0.0011	0.0057	0.0051	0.0002	0	0.0008	0.0009	0	0.0037	0	0.0014	0.0014	0.0077	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	2860.1	102	chr7	39339680	.	C	CA	2860.1	.	AC=2;AF=0.1;AN=20;BaseQRankSum=1.39;DP=516;ExcessHet=0.2348;FS=3.353;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=13.68;ReadPosRankSum=2.64;SOR=0.977	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:58,44:102:99:.:.:1402,0,2262:.	8	0	2	0
chr7	39339681	39339681	T	G	exonic	POU6F2	.	nonsynonymous SNV	POU6F2:NM_001370959:exon5:c.T638G:p.L213R,POU6F2:NM_001166018:exon6:c.T551G:p.L184R,POU6F2:NM_007252:exon6:c.T551G:p.L184R	.	1	1503	14	1	3	19	0.00529451	.	.	.	722503	not_provided|POU6F2-related_disorder	MedGen:C3661900|.	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.297	0.0745331248071	.	.	0.0006	0	0	0	0.0018	0.0002	0.0039	0.0032	0.0004269	66	154602	rs566759150	0.0010	0.0014	0.0008	0.0012	0.0064	0.0009	0.0009	0.0060	0.0058	0.0001	0.0006	0.0007	0	0.0021	0.0026	0.0006	0.0009	0.0064	0.0013	0.0014	0.0011	0.0015	0.0077	0.0012	0.0011	0.0057	0.0051	0.0002	0	0.0009	0.0009	0	0.0037	0	0.0014	0.0014	0.0077	0.05	0.51248	D	0.384	0.17750	T	0.995	0.77913	D	0.979	0.84481	D	0.003268	0.00950	U	5.088810	0.957031	0.38004	D	0.345	0.11182	N	0.93	0.86349	T	0.27	0.06868	N	0.711	0.75101	-0.2995	0.74999	T	0.576	0.84685	D	10	0.008406937	0.00191	T	0.074533	0.72064	D	0.297	0.61730	.	.	0.902403036094	0.90142	0.13895129386167432	0.13818	0.188262878971	0.21156	0.73977124691	0.72940	T	0.052548	0.29192	T	0.0947825	0.63724	D	-0.101628	0.63272	T	0.0788612767488848	0.09841	T	0.480052	0.14930	T	0.313356	0.54075	0.32990277	0.58865	0.4213184	0.62180	0.32705986	0.58606	-7.142	0.57933	T	.	.	0.136	0.39064	B	.;.;.;.;.	.;.;.;.;.	2.936691	0.39031	20.9	0.98927095159951717	0.48676	0.99051	0.90508	D	AEFDBI	0.822586	0.74288	D	0.268068562511938	0.54539	3.619105	0.319795148205281	0.56704	3.834135	0.743475314039906	0.23249	0.554377	0.28877	0	0.624306	0.53593	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	4.54	4.54	0.55220	6.366000	0.73033	4.896000	0.45813	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:0.0:1.0	13.541	0.61136	870	0.31527	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.1	3329.06	102	chr7	39339681	.	T	G	3329.06	.	AC=2;AF=0.1;AN=20;BaseQRankSum=1.02;DP=513;ExcessHet=0.2348;FS=3.271;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=17.16;ReadPosRankSum=2.95;SOR=0.933	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:52,44:102:99:.:.:2666,0,1950:.	8	0	2	0
chr7	39339682	39339682	-	AG	exonic	POU6F2	.	frameshift insertion	POU6F2:NM_001370959:exon5:c.639_640insAG:p.Q214Sfs*118,POU6F2:NM_001166018:exon6:c.552_553insAG:p.Q185Sfs*118,POU6F2:NM_007252:exon6:c.552_553insAG:p.Q185Sfs*118	.	1	1503	2	0	16	18	0.000664894	.	.	.	4008053	Wilms_tumor_5	MONDO:MONDO:0011112,MedGen:C1832099,OMIM:601583,Orphanet:654	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	.	.	.	.	0.0005	0	0	0	0.0005	0.0001	0.0013	0.0031	3.84e-05	1	26028	rs754399260	0.0009	0.0013	0.0007	0.0011	0.0064	0.0009	0.0008	0.0059	0.0058	0.0001	0.0006	0.0007	0	0.0005	0.0026	0.0006	0.0008	0.0064	0.0010	0.0011	0.0009	0.0012	0.0073	0.0009	0.0009	0.0054	0.0047	0.0002	0	0.0009	0.0009	0	0.0005	0	0.0014	0.0009	0.0073	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	3329.03	102	chr7	39339682	.	C	CAG	3329.03	.	AC=2;AF=0.1;AN=20;BaseQRankSum=1.51;DP=515;ExcessHet=0.2348;FS=3.271;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=17.16;ReadPosRankSum=2.81;SOR=0.933	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:52,44:102:99:.:.:2660,0,2033:.	8	0	2	0
chr7	39339687	39339687	T	A	exonic	POU6F2	.	nonsynonymous SNV	POU6F2:NM_001370959:exon5:c.T644A:p.L215H,POU6F2:NM_001166018:exon6:c.T557A:p.L186H,POU6F2:NM_007252:exon6:c.T557A:p.L186H	.	2	1502	14	1	3	19	0.00529801	.	.	.	722504	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.173	0.128482008254	.	0.00219649	0.0008	0	0	0	0.0019	0.0003	0.0040	0.0045	0.0006662	103	154602	rs558679060	0.0012	0.0014	0.0010	0.0014	0.0072	0.0011	0.0011	0.0068	0.0066	0.0001	0.0006	0.0007	0	0.0021	0.0035	0.0008	0.0010	0.0072	0.0013	0.0014	0.0011	0.0015	0.0078	0.0012	0.0011	0.0058	0.0051	0.0002	0	0.0009	0.0009	0	0.0037	0	0.0015	0.0014	0.0078	0.013	0.68238	D	0.091	0.41405	T	0.0	0.02946	B	0.0	0.04355	B	0.526992	0.11679	U	0.674572	0.687166	0.33290	D	0	0.06538	N	0.99	0.86283	T	0.44	0.04091	N	0.472	0.55799	-0.6724	0.61720	T	0.344	0.70899	T	10	0.0053934455	0.00118	T	0.128482	0.81043	D	0.173	0.43840	.	.	0.795581171059	0.79368	0.2851193258759142	0.28424	0.164144482972	0.18523	0.573362588882	0.49153	T	0.081322	0.36571	T	0.0179733	0.54108	T	-0.211959	0.53507	T	0.0254729737496765	0.01335	T	0.329867	0.07558	T	0.11896534	0.28020	0.18976596	0.42341	0.14952165	0.34083	0.16491888	0.38178	-5.183	0.39235	T	.	.	0.233	0.48572	B	.;.;.;.;.	.;.;.;.;.	2.685035	0.35034	19.79	0.95294137525612943	0.26605	0.86589	0.45901	D	AEFDBI	0.091232	0.18482	N	-0.65631439813835	0.17276	0.8876356	-0.530111321139244	0.21337	1.15378	2.95067598432571E-4	0.06406	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	4.39	1.85	0.24418	2.459000	0.44680	2.056000	0.30370	0.665000	0.62972	1.000000	0.71638	0.992000	0.31684	0.997000	0.79791	0.6554:0.0:0.0:0.3446	8.716	0.33575	870	0.31527	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.005699	0.010101	0.002717	0.006993	0.000000	0.025862	0.000000	0.007576	0.1	3148.14	105	chr7	39339687	.	T	A	3148.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=1.41;DP=507;ExcessHet=0.2348;FS=4.108;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=15.74;ReadPosRankSum=2.77;SOR=0.981	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:51,54:105:99:.:.:2070,0,1980:.	8	0	2	0
chr7	43624718	43624718	C	G	exonic	STK17A	.	nonsynonymous SNV	STK17A:NM_004760:exon7:c.C1121G:p.T374S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.074	0.0106320113374	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.368e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.332	0.13045	T	0.317	0.19304	T	0.013	0.16609	B	0.006	0.12133	B	0.032718	0.24992	N	0.277746	0.998147	0.22327	N	2.075	0.57047	M	-0.19	0.65931	T	0.48	0.03041	N	0.064	0.03613	-1.0419	0.16741	T	0.109	0.39392	T	10	0.115400106	0.21741	T	0.010632	0.27388	T	0.074	0.21613	0.163	0.06730	0.613747831775	0.61063	0.2658683285844839	0.26499	0.239766953823	0.26521	0.495270937681	0.38170	T	0.009004	0.08229	T	-0.0823907	0.39325	T	-0.356125	0.38501	T	0.750056266784668	0.43288	D	.	.	.	0.12240565	0.28764	0.066225044	0.13534	0.12240565	0.28764	0.066225044	0.13534	-5.001	0.36851	T	.	.	0.181	0.39305	B	.	.	3.389122	0.46917	22.4	0.9659045393350808	0.30369	0.93177	0.57526	D	AEFGBCI	0.709470	0.66354	D	-0.372321133435478	0.26460	1.444228	-0.16957771568949	0.32663	1.86049	0.99999999377476	0.74766	0.732398	0.92422	0	0.698795	0.70079	0	0.743671	0.96076	0	0.723	0.93126	0	.	.	4.61	3.72	0.41857	6.248000	0.72374	4.362000	0.43121	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.9177:0.0:0.0823	12.521	0.55405	774	0.48577	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3	376.29	108	chr7	43624718	.	C	G	376.29	.	AC=6;AF=0.3;AN=20;BaseQRankSum=-3.305;DP=964;ExcessHet=4.5998;FS=280.433;InbreedingCoeff=-0.4254;MLEAC=6;MLEAF=0.3;MQ=60;MQRankSum=0;QD=0.74;ReadPosRankSum=1.14;SOR=10.021	GT:AD:DP:GQ:PL	0/1:70,31:108:60:60,0,1260	4	0	6	0
chr7	44539007	44539007	T	C	exonic	NPC1L1	.	nonsynonymous SNV	NPC1L1:NM_001101648:exon2:c.A1390G:p.N464D,NPC1L1:NM_001300967:exon2:c.A1390G:p.N464D,NPC1L1:NM_013389:exon2:c.A1390G:p.N464D	.	418	1103	1	0	0	1	0.000453104	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.282	0.1055694662	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.368e-06	1.368e-06	1.361e-06	1.375e-06	8.993e-07	2.3e-07	9e-08	.	.	0	0	0	0	0	0	8.993e-07	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.105	0.29823	T	0.229	0.26306	T	0.634	0.40281	P	0.215	0.37512	B	0.000001	0.84330	D	0.054833	0.537351	0.32025	D	2.39	0.68882	M	-3.16	0.92996	D	-2.14	0.49684	N	0.374	0.43706	0.175	0.85489	D	0.663	0.88302	D	10	0.25123477	0.42461	T	0.105569	0.78074	D	0.282	0.59981	0.373	0.38503	0.892076201581	0.89100	0.6007070930439669	0.60001	0.174264859333	0.19618	0.511412739754	0.40420	T	0.171465	0.51960	T	-0.0580707	0.43208	T	-0.321191	0.42443	T	0.509793758392334	0.32989	D	0.793521	0.43550	T	0.19237274	0.40904	0.2144566	0.45997	0.19237274	0.40904	0.2144566	0.45996	-8.976	0.67542	D	.	.	0.17	0.45323	B	.;.;.;.	.;.;.;.	2.252221	0.28770	17.91	0.98969112706159623	0.49501	0.89000	0.49210	D	AEFDBI	0.567112	0.57283	D	-0.299422143427165	0.29171	1.615315	-0.220870239823937	0.30788	1.736609	0.999999878021047	0.74766	0.554377	0.28877	0	0.573888	0.26702	0	0.547309	0.15389	0	0.567892	0.33627	0	.	.	5.07	3.89	0.44098	1.746000	0.37915	1.203000	0.24851	-0.154000	0.11915	0.980000	0.35271	0.994000	0.32194	0.846000	0.39970	0.0:0.0:0.1684:0.8316	10.160	0.42022	783	0.47268	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1	3432.14	138	chr7	44539007	.	T	C	3432.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-1.571;DP=576;ExcessHet=0.2348;FS=0.439;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=12.48;ReadPosRankSum=0.151;SOR=0.738	GT:AD:DP:GQ:PL	0/1:65,73:138:99:1881,0,1928	8	0	2	0
chr7	56101805	56101805	-	A	exonic	CHCHD2	.	stoploss	CHCHD2:NM_001320327:exon4:c.505dupT:p.*169delinsLS*	Parkinson disease 22, autosomal dominant	.	.	.	.	.	.	.	.	.	.	1268040	not_provided|CHCHD2-related_disorder	MedGen:C3661900|.	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	.	.	0.0007	0.0103834	0.0108	0.0012	0.1099	0	0	0.0002	0.0077	6.061e-05	0.0029584	77	26028	rs35957514	0.0031	0.0032	0.0037	0.0026	0.0982	0.0030	0.0030	0.0957	0.0947	0.0008	0.0982	0	2.536e-05	0	0	2.709e-05	0.0030	4.78e-05	0.0074	0.0075	0.0067	0.0082	0.0688	0.0071	0.0069	0.0654	0.0640	0.0012	0	0.0688	0	0	0	0	5.88e-05	0.0118	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	1536.1	52	chr7	56101805	.	T	TA	1536.1	.	AC=2;AF=0.1;AN=20;BaseQRankSum=0.032;DP=329;ExcessHet=0.2348;FS=0;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=59.53;MQRankSum=2.17;QD=15.21;ReadPosRankSum=0.101;SOR=0.722	GT:AD:DP:GQ:PL	0/1:28,24:52:99:699,0,893	8	0	2	0
chr7	73769988	73769988	A	G	exonic	CLDN3	.	nonsynonymous SNV	CLDN3:NM_001306:exon1:c.T62C:p.I21T	.	431	1067	23	1	0	25	0.0115794	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.518	0.340119394773	0.0024	0.000599042	0.0028	0.0005	0.0019	0	0.0012	0.0041	0.0066	0.0014	0.0022703	351	154602	rs113016282	0.0020	0.0020	0.0021	0.0020	0.0158	0.0020	0.0020	0.0131	0.0121	0.0007	0.0020	0.0154	0	0.0005	0.0158	0.0018	0.0039	0.0013	0.0019	0.0019	0.0020	0.0017	0.0029	0.0017	0.0016	0.0023	0.0020	0.0004	0	0.0029	0.0185	0	0.0004	0.0136	0.0021	0.0024	0.0010	0.001	0.78490	D	0.004	0.74150	D	0.991	0.64070	D	0.97	0.72226	D	0.000459	0.44317	D	0.187626	0.858781	0.35350	D	2.715	0.79425	M	-2.61	0.89953	D	-4.13	0.75139	D	0.729	0.73015	0.682	0.92956	D	0.768	0.92101	D	10	0.012958348	0.00276	T	0.340119	0.91992	D	0.518	0.79461	.	.	0.872881601446	0.87164	0.8183121460000667	0.81788	1.81973249962	0.91917	0.692968964577	0.66132	T	0.634574	0.88717	D	-0.182573	0.23353	T	-0.0402671	0.67683	D	0.0434138198746558	0.04313	T	0.954805	0.82790	D	0.5379085	0.69279	0.52494216	0.72553	0.5379085	0.69280	0.52494216	0.72554	-7.243	0.55789	T	.	.	0.515	0.65239	A	.	.	4.951434	0.81797	27.6	0.99718081088523025	0.81843	0.97420	0.74637	D	AEFDBHCI	0.882172	0.81008	D	0.62522875360619	0.74775	6.190228	0.552416265015049	0.71566	5.674335	0.999999999871556	0.74766	0.549168	0.22868	0	0.627178	0.54094	0	0.504199	0.09095	0	0.618803	0.45993	0	.	.	4.95	3.8	0.42887	9.223000	0.94355	9.269000	0.79621	0.653000	0.53440	1.000000	0.71638	1.000000	0.68203	0.886000	0.42526	0.9074:0.0:0.0926:0.0	8.626	0.33052	878	0.29785	.	.	.	.	.	.	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	0.021169	0.005051	0.028533	0.029240	0.000000	0.008621	0.024540	0.007576	0.05	2211.43	174	chr7	73769988	.	A	G	2211.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.913;DP=501;ExcessHet=0;FS=3.499;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.71;ReadPosRankSum=-0.614;SOR=0.963	GT:AD:DP:GQ:PL	0/1:81,93:174:99:2223,0,2048	9	0	1	0
chr7	73834825	73834825	G	A	exonic	METTL27	.	nonsynonymous SNV	METTL27:NM_152559:exon6:c.C656T:p.P219L	.	409	1096	16	1	0	18	0.0081448	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.019	0.0124194452689	0.0015	0.000199681	0.0017	0.0002	0.0008	0.0001	0.0009	0.0026	0.0045	0.0012	0.0015847	245	154602	rs141298816	0.0015	0.0015	0.0015	0.0014	0.0113	0.0014	0.0014	0.0091	0.0083	0.0006	0.0010	0.0092	5.038e-05	0.0003	0.0113	0.0014	0.0027	0.0010	0.0011	0.0011	0.0012	0.0009	0.0013	0.0009	0.0009	0.0010	0.0010	0.0002	0	0.0013	0.0095	0	0.0002	0.0068	0.0013	0.0019	0.0010	0.898	0.02436	T	1.0	0.01155	T	0.007	0.14184	B	0.002	0.06944	B	0.031227	0.01733	N	2.414770	1	0.08975	N	.	.	.	0.35	0.58029	T	0.93	0.01551	N	0.033	0.00882	-1.0776	0.07821	T	0.070	0.28412	T	10	0.0039233267	0.00075	T	0.012419	0.30977	T	0.019	0.03383	.	.	0.0611884634855	0.05136	0.4536783851468046	0.45285	0.12256426211	0.13811	0.331509172916	0.15162	T	4.8E-4	0.00176	T	-0.638452	0.00085	T	-0.703098	0.05659	T	0.00296961541242298	0.00031	T	0.278472	0.04815	T	0.022284659	0.00881	0.02799418	0.00997	0.022284659	0.00880	0.02799418	0.00996	-4.004	0.23864	T	.	.	0.074	0.05060	B	.	.	-0.813875	0.01079	0.048	0.84198002121136706	0.15153	0.00981	0.03737	N	AEFDBHI	0.050429	0.08812	N	-1.58592246858239	0.01336	0.05821189	-1.67700321658116	0.01242	0.05598409	0.999971115554335	0.50053	0.695654	0.57023	0	0.633656	0.55848	0	0.723109	0.80598	0	0.699875	0.68795	0	.	.	4.76	-6.87	0.01511	-2.497000	0.01046	-1.303000	0.05769	-1.731000	0.00715	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.4394:0.2366:0.2045:0.1194	1.813	0.02907	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	0.018127	0.000000	0.023098	0.023392	0.000000	0.034483	0.024390	0.007576	0.05	1368.43	112	chr7	73834825	.	G	A	1368.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=3.7;DP=445;ExcessHet=0;FS=5.858;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.22;ReadPosRankSum=-0.088;SOR=0.905	GT:AD:DP:GQ:PL	0/1:63,49:112:99:1380,0,1459	9	0	1	0
chr7	91874189	91874189	C	T	exonic	MTERF1	.	nonsynonymous SNV	MTERF1:NM_001301134:exon2:c.G545A:p.R182H,MTERF1:NM_006980:exon3:c.G605A:p.R202H,MTERF1:NM_001301135:exon4:c.G545A:p.R182H	.	435	1085	2	0	0	2	0.00092081	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.270	0.0159223250079	7.7e-05	.	3.298e-05	0	0	0.0001	0	2.998e-05	0	6.058e-05	2.59e-05	4	154602	rs149835747	0.0001	0.0001	0.0001	9.625e-05	0.0005	9.805e-05	9.221e-05	0.0001	9.767e-05	0	2.236e-05	0	5.038e-05	0	0.0005	0.0001	0.0003	8.115e-05	2.631e-05	2.628e-05	0	5.386e-05	5.88e-05	8.15e-06	5.14e-06	1.972e-05	1.124e-05	0	0	0	0	0	0	0	5.88e-05	0	0	0.062	0.38633	T	0.0	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.000001	0.84330	D	0.000000	0.999966	0.81001	D	.	.	.	2.67	0.12473	T	-1.59	0.38345	N	0.614	0.75101	-1.1133	0.02801	T	0.093	0.35390	T	10	0.56137455	0.64807	D	0.015922	0.36914	T	0.270	0.58507	.	.	0.579270068135	0.57597	0.7754257983199503	0.77492	0.111227701114	0.12544	0.521392524242	0.41822	T	0.038491	0.24856	T	-0.007917	0.50556	T	-0.0234469	0.68802	D	0.549723207950592	0.34467	D	0.932007	0.74787	D	0.53719234	0.69239	0.28665972	0.54675	0.53719234	0.69240	0.28665972	0.54674	-9.401	0.70241	D	.	.	0.653	0.71452	P	.;.;.	.;.;.	5.116593	0.85559	28.6	0.99939561734825233	0.99734	0.92843	0.56681	D	AEFBI	0.547041	0.56090	D	0.633820628334448	0.75326	6.286081	0.593859321742876	0.74499	6.147308	0.999999900222414	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.658983	0.55881	0	0.592323	0.36904	0	.	.	4.62	4.62	0.56946	4.818000	0.62347	4.476000	0.43515	0.549000	0.26987	0.993000	0.37899	1.000000	0.68203	0.994000	0.71098	0.0:1.0:0.0:0.0	17.102	0.86530	145	0.94217	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1696.43	115	chr7	91874189	.	C	T	1696.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.15;DP=467;ExcessHet=0;FS=4.512;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.75;ReadPosRankSum=1.22;SOR=0.946	GT:AD:DP:GQ:PL	0/1:50,65:115:99:1708,0,1127	9	0	1	0
chr7	93102964	93102964	C	G	exonic	SAMD9	.	nonsynonymous SNV	SAMD9:NM_001193307:exon2:c.G3134C:p.G1045A,SAMD9:NM_017654:exon3:c.G3134C:p.G1045A	MIRAGE syndrome, Autosomal dominant;Tumoral calcinosis, familial, normophosphatemic, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.019	0.00364362051594	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.739e-06	0.0001	2.726e-06	2.753e-06	2.701e-06	6.4e-07	4.3e-07	7.2e-07	2e-07	0	0	3.828e-05	0	0	0	2.701e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.358	0.11994	T	0.365	0.16717	T	0.278	0.32022	B	0.057	0.26280	B	0.038933	0.24228	N	0.350345	0.999403	0.21245	N	1.395	0.35261	L	1.98	0.21865	T	-0.26	0.11185	N	0.172	0.18376	-1.0035	0.28903	T	0.025	0.10866	T	10	0.101587355	0.18570	T	0.003644	0.08371	T	0.019	0.03383	0.111	0.02112	0.462721901306	0.45895	0.30406387633743254	0.30319	0.206316586236	0.23055	0.261323869228	0.05050	T	0.005306	0.11036	T	-0.27156	0.11583	T	-0.627853	0.10578	T	0.260672181844711	0.23344	T	0.427357	0.11519	T	0.026715023	0.01764	0.03884978	0.03847	0.026715023	0.01763	0.03884978	0.03846	-5.641	0.43165	T	0.1164478318514886	0.10529	0.110	0.22135	B	.;.;.	.;.;.	1.711545	0.21796	15.35	0.15711081566189278	0.00394	0.77281	0.37980	D	AEFBI	0.241180	0.36284	N	-0.496248800179662	0.22203	1.183913	-0.415350861612596	0.24546	1.344766	0.0736999754895762	0.15642	0.706298	0.61202	0	0.709663	0.81188	0	0.573888	0.23631	0	0.655142	0.61905	0	.	.	4.79	0.721	0.17373	1.167000	0.31456	-0.698000	0.07808	-0.200000	0.08971	0.996000	0.39380	0.000000	0.08366	0.044000	0.14658	0.0:0.4337:0.0:0.5663	8.086	0.29933	806	0.43582	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.4	764.96	190	chr7	93102964	.	C	G	764.96	.	AC=8;AF=0.4;AN=20;BaseQRankSum=-6.623;DP=1746;ExcessHet=10.3881;FS=128.174;InbreedingCoeff=-0.6656;MLEAC=8;MLEAF=0.4;MQ=60;MQRankSum=0;QD=0.58;ReadPosRankSum=-0.095;SOR=11.298	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:160,30:190:72:0|1:93102964_C_G:72,0,6056:93102964	2	0	8	0
chr7	93102965	93102965	C	G	exonic	SAMD9	.	nonsynonymous SNV	SAMD9:NM_001193307:exon2:c.G3133C:p.G1045R,SAMD9:NM_017654:exon3:c.G3133C:p.G1045R	MIRAGE syndrome, Autosomal dominant;Tumoral calcinosis, familial, normophosphatemic, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.038	0.00358717597943	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	2.121e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.086	0.32610	T	0.086	0.40909	T	0.013	0.16609	B	0.007	0.12992	B	0.038933	0.24228	N	0.350345	0.998976	0.21747	N	2.2	0.62015	M	1.96	0.22270	T	-0.4	0.15782	N	0.133	0.12913	-1.0400	0.17313	T	0.033	0.13986	T	10	0.07416803	0.11303	T	0.003587	0.08216	T	0.038	0.09825	0.132	0.03662	0.251639045875	0.24756	0.3058776317445259	0.30500	0.186022872039	0.20906	0.28491345048	0.08187	T	0.005275	0.11722	T	-0.261545	0.12721	T	-0.613468	0.11704	T	0.236644327640533	0.22264	T	0.470853	0.13943	T	0.04599401	0.07624	0.049176365	0.07460	0.04599401	0.07624	0.049176365	0.07460	-5.327	0.40209	T	0.14989570008231407	0.17564	0.173	0.38025	B	.;.;.	.;.;.	2.737985	0.35852	20.1	0.81866065481440609	0.13900	0.88541	0.48516	D	AEFBI	0.296760	0.40652	N	-1.00286225320604	0.08544	0.4010124	-0.91137622340653	0.11826	0.6048167	0.111460904489544	0.16659	0.706298	0.61202	0	0.709663	0.81188	0	0.573888	0.23631	0	0.655142	0.61905	0	.	.	4.79	-0.384	0.11853	2.801000	0.47603	1.030000	0.23473	-1.635000	0.00848	0.985000	0.35982	0.000000	0.08366	0.009000	0.08673	0.0:0.5765:0.1236:0.2999	6.198	0.19775	806	0.43582	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	1530.03	190	chr7	93102965	.	C	G	1530.03	.	AC=10;AF=0.5;AN=20;BaseQRankSum=-5.233;DP=1910;ExcessHet=22.563;FS=128.174;InbreedingCoeff=-0.9987;MLEAC=10;MLEAF=0.5;MQ=60;MQRankSum=0;QD=0.86;ReadPosRankSum=0.483;SOR=11.574	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:160,30:190:72:0|1:93102964_C_G:72,0,6056:93102964	0	0	10	0
chr7	97990042	97990042	A	C	splicing	OCM2	NM_006188:exon1:c.61+2T>G	.	.	.	434	1084	4	0	0	4	0.00184162	1.0000	0.94	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1390112627	6.19e-06	0.0002	4.647e-06	7.73e-06	1.213e-05	2.66e-06	1.92e-06	2.19e-06	1.44e-06	0	0	0	0	2.223e-05	0	6.09e-06	0	1.213e-05	5.624e-05	0.0005	7.667e-05	3.375e-05	0.0002	2.634e-05	1.799e-05	3.139e-05	1.297e-05	3.124e-05	0	0.0002	0	0	0.0004	0	1.658e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.186975	0.72684	D	0.0308008	0.72330	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.670646	0.74647	26.2	0.98603581146955932	0.43546	0.95746	0.65978	D	AEFGBI	.	.	.	0.845182211011962	0.88832	9.729144	0.616035010124485	0.76103	6.429953	0.00823670763233826	0.11637	0.053691	0.00478	0	0.059962	0.00310	0	0.060301	0.00762	0	0.057018	0.00518	0	0.784209	0.46363	3.49	3.49	0.39065	6.048000	0.70674	11.017000	0.84915	0.611000	0.49015	1.000000	0.71638	1.000000	0.68203	0.811000	0.38219	1.0:0.0:0.0:0.0	10.139	0.41900	663	0.61610	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	157.52	137	chr7	97990042	.	A	C	157.52	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-3.736;DP=895;ExcessHet=0;FS=72.408;InbreedingCoeff=-0.143;MLEAC=1;MLEAF=0.071;MQ=59.89;MQRankSum=0;QD=1.15;ReadPosRankSum=1.38;SOR=5.281	GT:AD:DP:GQ:PL	0/1:109,28:137:99:167,0,2369	6	0	1	3
chr7	99876156	99876156	T	C	exonic	OR2AE1	.	nonsynonymous SNV	OR2AE1:NM_001005276:exon1:c.A878G:p.N293S	.	428	1092	2	0	0	2	0.000914913	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.147	0.0116056588354	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.841e-07	6.84e-07	1.361e-06	0	0.0002	0	0	.	.	0	0	0	0	0	0.0002	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.001	0.83351	D	0.997	0.70673	D	0.97	0.72226	D	0.000965	0.40836	D	0.000000	0.993886	0.23629	N	1.87	0.49600	L	1.05	0.39990	T	-4.42	0.77470	D	0.194	0.21319	-1.0027	0.29139	T	0.144	0.46750	T	10	0.29698682	0.47261	T	0.011606	0.29407	T	0.147	0.38986	0.581	0.70733	0.460703734027	0.45695	0.05384234859153853	0.05326	0.255586824059	0.28147	0.215485006571	0.01065	T	0.007404	0.06808	T	-0.171536	0.25002	T	-0.484176	0.24004	T	0.976575434207916	0.71442	D	0.950005	0.80823	D	0.7637946	0.81678	0.6924786	0.81900	0.7637946	0.81679	0.6924786	0.81901	-7.415	0.57010	T	.	.	0.159	0.35140	B	.	.	3.218519	0.43840	21.8	0.99771369740652638	0.85918	0.67631	0.33503	D	AEDBCI	0.252156	0.37189	N	0.165620274938772	0.49554	3.154477	0.0857243846247857	0.43830	2.676665	7.94876718001517E-5	0.04552	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	3.56	3.56	0.39892	1.040000	0.29888	3.304000	0.37407	0.575000	0.29119	0.053000	0.21524	1.000000	0.68203	0.995000	0.73285	0.0:0.0:0.0:1.0	10.720	0.45234	174	0.93268	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1684.43	126	chr7	99876156	.	T	C	1684.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.524;DP=441;ExcessHet=0;FS=2.347;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.37;ReadPosRankSum=-0.616;SOR=0.481	GT:AD:DP:GQ:PL	0/1:60,66:126:99:1696,0,1656	9	0	1	0
chr7	100175805	100175805	G	C	exonic	GPC2	.	nonsynonymous SNV	GPC2:NM_152742:exon3:c.C415G:p.L139V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.015	0.0084618148058	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	5.746e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.215	0.19293	T	0.264	0.22761	T	0.002	0.09854	B	0.003	0.08700	B	0.011788	0.29400	N	0.319847	0.999984	0.18198	N	1.1	0.28011	L	0.82	0.48142	T	0.09	0.05917	N	0.115	0.10340	-1.0389	0.17648	T	0.045	0.19194	T	10	0.06973243	0.10047	T	0.008462	0.22382	T	0.015	0.02232	0.409	0.44395	0.260249123532	0.25628	0.12418845572528417	0.12344	0.308157786748	0.33120	0.309577137232	0.11843	T	0.086908	0.37827	T	-0.283254	0.10325	T	-0.644651	0.09334	T	0.086081848684672	0.10746	T	0.442656	0.12286	T	0.043123998	0.06666	0.05641909	0.10077	0.043123998	0.06665	0.05641909	0.10077	-4.159	0.26155	T	.	.	0.065	0.01960	B	.	.	1.692672	0.21567	15.25	0.93331368040686369	0.23058	0.23428	0.22073	N	AEFBI	0.121001	0.23544	N	-0.863199556233683	0.11727	0.5675084	-0.716315475991125	0.16555	0.876308	0.999171803000595	0.38651	0.52065	0.21626	1	0.588066	0.40923	0	0.719019	0.79029	0	0.604944	0.38103	0	.	.	5.06	2.18	0.26813	0.676000	0.24927	3.139000	0.36475	-0.186000	0.09761	0.000000	0.06391	1.000000	0.68203	0.968000	0.53726	0.0949:0.3504:0.5547:0.0	7.051	0.24254	285	0.88719	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	6711.04	102	chr7	100175805	.	G	C	6711.04	.	AC=10;AF=0.5;AN=20;BaseQRankSum=-0.794;DP=1021;ExcessHet=22.563;FS=312.371;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=60;MQRankSum=0;QD=6.74;ReadPosRankSum=1.2;SOR=11.664	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:71,31:102:99:0|1:100175805_G_C:691,0,2538:100175805	0	0	10	0
chr7	100221247	100221247	G	A	exonic	PVRIG	.	nonsynonymous SNV	PVRIG:NM_024070:exon6:c.G977A:p.R326Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.00407832681432	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs970282144	9.921e-06	1.3e-05	8.412e-06	1.146e-05	0.0002	5.76e-06	4.5e-06	4.64e-06	3.38e-06	3.09e-05	2.537e-05	0	2.554e-05	0	0.0002	9.177e-06	0	0	4.599e-05	4.597e-05	6.423e-05	2.69e-05	7.238e-05	2.109e-05	1.527e-05	1.919e-05	1.032e-05	7.238e-05	0	6.539e-05	0	0	0	0	4.41e-05	0	0	0.204	0.20078	T	0.192	0.28300	T	0.017	0.17573	B	0.004	0.10090	B	.	.	.	.	0.999996	0.08975	N	0.46	0.12951	N	0.69	0.51714	T	-0.09	0.08340	N	0.087	0.06454	-1.0541	0.13278	T	0.061	0.25346	T	9	0.03632778	0.01926	T	0.004078	0.09744	T	0.003	0.00094	.	.	0.262662153117	0.25859	0.07396910104862847	0.07333	0.090965276038	0.10271	0.354616850615	0.18600	T	0.007128	0.06547	T	-0.297193	0.08927	T	-0.664673	0.07955	T	0.0392781496355364	0.03561	T	0.485951	0.14839	T	0.019872122	0.00528	0.038927697	0.03869	0.019872122	0.00527	0.038927697	0.03869	-4.047	0.24504	T	.	.	0.124	0.26200	B	.	.	-0.641632	0.01462	0.089	0.97733093385380154	0.35634	0.01077	0.03980	N	ALL	0.031430	0.03361	N	-1.58639027300836	0.01334	0.0581045	-1.70877385509347	0.01099	0.04937975	0.999999999999987	0.74766	0.615465	0.37627	0	0.52208	0.09955	0	0.658983	0.55881	0	0.491896	0.07777	0	.	.	2.65	-5.31	0.02519	-1.622000	0.02145	-1.740000	0.04813	-0.493000	0.05040	0.000000	0.06391	0.000000	0.08366	0.381000	0.26357	0.6659:0.1512:0.183:0.0	6.701	0.22413	289	0.88525	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	1490.43	116	chr7	100221247	.	G	A	1490.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.29;DP=637;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.85;ReadPosRankSum=-0.108;SOR=0.73	GT:AD:DP:GQ:PL	0/1:62,54:116:99:1502,0,1573	9	0	1	0
chr7	100608080	100608080	C	T	exonic	PCOLCE	.	nonsynonymous SNV	PCOLCE:NM_002593:exon9:c.C1327T:p.R443W	.	424	1092	6	0	0	6	0.00273973	.	.	.	3214355	PCOLCE-related_disorder	.	no_assertion_criteria_provided	Benign	.	.	.	.	.	.	.	.	0.027	0.0121797643873	0.0049	0.00319489	0.0053	0.0010	0.0023	0	0.0018	0.0080	0.0090	0.0032	0.0052263	808	154602	rs117595600	0.0062	0.0062	0.0063	0.0061	0.0067	0.0061	0.0061	0.0066	0.0065	0.0009	0.0033	0.0256	7.557e-05	0.0015	0.0066	0.0067	0.0068	0.0030	0.0050	0.0050	0.0052	0.0048	0.0070	0.0047	0.0046	0.0064	0.0062	0.0013	0.0066	0.0061	0.0265	0.0006	0.0013	0.0136	0.0070	0.0052	0.0031	0.035	0.43708	D	0.028	0.54934	D	0.875	0.48103	P	0.12	0.32230	B	0.109845	0.02628	N	2.231400	1	0.08975	N	0.69	0.16971	N	2.11	0.19860	T	-0.47	0.15178	N	0.272	0.30800	-1.0074	0.27727	T	0.013	0.05177	T	10	0.0029818416	0.00048	T	0.01218	0.30521	T	0.027	0.05988	.	.	0.082315109003	0.07666	0.48573178987946297	0.48493	0.57446744646	0.53476	0.236829832196	0.02512	T	0.058092	0.30747	T	-0.592175	0.00163	T	-0.618829	0.11277	T	0.0353263161615224	0.02863	T	0.822018	0.48145	T	0.040398005	0.05758	0.030600548	0.01537	0.040398005	0.05758	0.030600548	0.01537	-7.26	0.55911	T	.	.	0.189	0.40650	B	.	.	0.837857	0.12093	8.647	0.97639594448136346	0.35068	0.03669	0.08932	N	AEFBI	0.576937	0.57873	D	-1.02380896999537	0.08111	0.3792045	-1.18161781016971	0.06216	0.2985496	0.99935268551956	0.39259	0.706298	0.61202	0	0.659912	0.62753	0	0.709663	0.75317	0	0.567892	0.33627	0	.	.	4.31	-4.93	0.02839	-1.995000	0.01562	-1.483000	0.05337	-0.190000	0.09434	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.4384:0.2696:0.2162:0.0758	3.772	0.08167	693	0.58582	.	SRRT|AP4M1	Skin_Sun_Exposed_Lower_leg|Spleen	GIGYF1	Esophagus_Gastroesophageal_Junction	.	Likely benign	0	0	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	0.007049	0.010101	0.005435	0.008772	0.000000	0.000000	0.006098	0.000000	0.05	1394.43	108	chr7	100608080	.	C	T	1394.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.086;DP=429;ExcessHet=0;FS=0.73;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.91;ReadPosRankSum=1.39;SOR=0.595	GT:AD:DP:GQ:PL	0/1:52,56:108:99:1406,0,1214	9	0	1	0
chr7	100768641	100768641	C	A	exonic	ZAN	.	nonsynonymous SNV	ZAN:NM_003386:exon27:c.C5073A:p.N1691K,ZAN:NM_173059:exon27:c.C5073A:p.N1691K	.	355	1129	37	1	0	39	0.0169787	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.110	.	.	0.00239617	0.0017	0.0003	0.0012	0	0	0.0006	0.0062	0.0086	0.0011061	171	154602	rs200886020	0.0007	0.0007	0.0005	0.0009	0.0074	0.0007	0.0006	0.0069	0.0067	2.992e-05	0.0006	0.0031	2.525e-05	0	0.0063	0.0001	0.0014	0.0074	0.0005	0.0005	0.0003	0.0007	0.0068	0.0004	0.0004	0.0050	0.0044	0	0	0.0002	0.0026	0	0	0.0068	0.0005	0.0005	0.0068	.	.	.	0.079	0.42086	T	0.999	0.77913	D	0.958	0.70027	D	0.028039	0.25665	N	0.277746	0.999497	0.21100	N	2.175	0.60977	M	0.27	0.59176	T	-3.69	0.70432	D	0.375	0.46835	-0.8721	0.50371	T	0.241	0.60917	T	10	0.00919354	0.00208	T	.	.	.	0.110	0.31079	0.6	0.73105	0.416075642716	0.41223	0.6134464291473529	0.61276	0.0789487963892	0.08884	0.344711124897	0.17139	T	0.047355	0.27697	T	-0.357163	0.04293	T	-0.281532	0.46648	T	0.0956447118229659	0.11871	T	0.70043	0.31009	T	0.067272946	0.14551	0.11275833	0.27210	0.067272946	0.14551	0.11275833	0.27209	-9.285	0.69513	D	.	.	0.344	0.56145	A	.;.;.;.	.;.;.;.	1.503816	0.19327	14.21	0.90094034460398087	0.19377	0.22775	0.21859	N	AEFDBI	0.246495	0.36724	N	-0.202817572994107	0.33019	1.868593	-0.388745786694531	0.25331	1.39241	1.12601365556767E-4	0.05269	0.06567	0.01388	0	0.085267	0.02369	0	0.060301	0.00762	0	0.058706	0.01089	0	.	.	4.77	1.58	0.22557	-0.304000	0.08238	-2.800000	0.03348	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.296000	0.24405	0.0:0.6443:0.0:0.3557	6.947	0.23704	700	0.57880	von Willebrand factor, type D domain|von Willebrand factor, type D domain|von Willebrand factor, type D domain;von Willebrand factor, type D domain|von Willebrand factor, type D domain|von Willebrand factor, type D domain;von Willebrand factor, type D domain|von Willebrand factor, type D domain|von Willebrand factor, type D domain;von Willebrand factor, type D domain|von Willebrand factor, type D domain|von Willebrand factor, type D domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002518	0.000000	0.002717	0.000000	0.000000	0.000000	0.003049	0.011364	0.05	2117.43	171	chr7	100768641	.	C	A	2117.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.43;DP=878;ExcessHet=0;FS=2.66;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.38;ReadPosRankSum=0.749;SOR=0.69	GT:AD:DP:GQ:PL	0/1:85,86:171:99:2129,0,1971	9	0	1	0
chr7	100773851	100773851	A	0	exonic	ZAN	.	.	.	.	428	140	242	44	668	998	0.540984	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.55	2147.25	93	chr7	100773851	.	A	*	2147.25	.	AC=11;AF=0.55;AN=20;DP=894;ExcessHet=0.0952;FS=0;InbreedingCoeff=0.3407;MLEAC=11;MLEAF=0.55;MQ=60;QD=2.73;SOR=0.729	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:44,49:93:99:0|1:100773849_CCAT_C:1917,0,1681:100773849	2	3	5	0
chr7	100784727	100784727	G	C	exonic	ZAN	.	nonsynonymous SNV	ZAN:NM_003386:exon36:c.G6727C:p.A2243P,ZAN:NM_173059:exon36:c.G6727C:p.A2243P	.	417	1067	37	1	0	39	0.0179475	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.473	.	0.0002	0.00239617	0.0014	0.0002	0.0008	0	0	0.0005	0.0056	0.0075	0.0011837	183	154602	rs201907411	0.0007	0.0007	0.0005	0.0010	0.0075	0.0007	0.0007	0.0071	0.0069	2.987e-05	0.0006	0.0031	2.519e-05	0	0.0062	0.0001	0.0014	0.0075	0.0005	0.0005	0.0003	0.0007	0.0068	0.0004	0.0004	0.0050	0.0044	0	0	0.0003	0.0026	0	0	0.0068	0.0005	0.0005	0.0068	.	.	.	0.175	0.32040	T	0.934	0.52202	P	0.726	0.55126	P	0.048143	0.01982	N	2.533840	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.196	0.24135	-0.0814	0.80523	T	0.652	0.87889	D	9	0.025876224	0.00769	T	.	.	.	0.473	0.76619	.	.	0.0611884634855	0.05136	0.3031290985180632	0.30225	0.0886726636444	0.10026	0.220651835203	0.01348	T	0.083485	0.37065	T	-0.316908	0.07154	T	-0.222866	0.52461	T	0.0646765785142323	0.07882	T	0.723028	0.33655	T	0.09228847	0.21646	0.10416697	0.25011	0.09228847	0.21645	0.10416697	0.25011	-2.966	0.14100	T	.	.	0.102	0.17785	B	.;.;.;.	.;.;.;.	1.096425	0.14803	11.34	0.91590322418489312	0.20871	0.02306	0.06624	N	AEFDHI	0.053774	0.09720	N	-0.867652622141759	0.11619	0.5616561	-1.11627097694866	0.07389	0.3592259	0.9796870116248	0.30054	0.119485	0.03058	0	0.059962	0.00310	0	0.134018	0.03721	0	0.075334	0.01956	0	.	.	4.24	-7.18	0.01354	-0.757000	0.04877	-2.321000	0.03903	-0.242000	0.07441	0.000000	0.06391	0.000000	0.08366	0.163000	0.20749	0.1913:0.0:0.5355:0.2731	6.816	0.23017	697	0.58201	Trypsin Inhibitor-like, cysteine rich domain|EGF-like domain;Trypsin Inhibitor-like, cysteine rich domain|EGF-like domain;Trypsin Inhibitor-like, cysteine rich domain|EGF-like domain;Trypsin Inhibitor-like, cysteine rich domain|EGF-like domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002518	0.000000	0.002717	0.000000	0.000000	0.000000	0.003049	0.011364	0.05	2881.43	189	chr7	100784727	.	G	C	2881.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.397;DP=515;ExcessHet=0;FS=6.184;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=15.25;ReadPosRankSum=1.88;SOR=1.137	GT:AD:DP:GQ:PL	0/1:89,100:189:99:2893,0,2479	9	0	1	0
chr7	100787922	100787922	G	A	exonic	ZAN	.	nonsynonymous SNV	ZAN:NM_003386:exon38:c.G7013A:p.R2338H,ZAN:NM_173059:exon38:c.G7013A:p.R2338H	.	424	1062	35	1	0	37	0.0171217	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.372	.	0.0002	0.00239617	0.0016	0.0002	0.0008	0.0005	0	0.0005	0.0063	0.0100	0.0012872	199	154602	rs199598152	0.0008	0.0008	0.0005	0.0011	0.0086	0.0007	0.0007	0.0081	0.0078	3.028e-05	0.0007	0.0034	0.0002	0	0.0075	0.0002	0.0015	0.0086	0.0006	0.0006	0.0003	0.0008	0.0073	0.0005	0.0004	0.0054	0.0047	0	0	0.0003	0.0027	0.0002	0	0.0072	0.0005	0.0010	0.0073	.	.	.	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.230964	0.15921	N	0.552996	0.999656	0.20771	N	.	.	.	.	.	.	.	.	.	0.09	0.07949	-1.0190	0.24041	T	0.040	0.17020	T	9	0.022127837	0.00545	T	.	.	.	0.372	0.69102	.	.	0.0297737177859	0.01360	0.7751872977740802	0.77468	0.0849059257558	0.09594	0.222604453564	0.01465	T	0.005068	0.04506	T	-0.112029	0.34435	T	0.0732665	0.75128	D	0.0352798235415309	0.02857	T	0.470053	0.13899	T	0.035594486	0.04218	0.04065576	0.04443	0.035594486	0.04217	0.04065576	0.04442	2.445	0.00035	T	.	.	0.059	0.00820	B	.;.;.;.	.;.;.;.	-0.413719	0.02162	0.210	0.40282737763205345	0.02833	0.05994	0.11957	N	AEFBI	0.046315	0.07678	N	-1.02626804236301	0.08061	0.3766705	-0.932325711519789	0.11334	0.5767601	1.84741990470518E-6	0.01202	0.053691	0.00478	0	0.059962	0.00310	0	0.060301	0.00762	0	0.058706	0.01089	0	.	.	4.63	0.676	0.17125	1.045000	0.29951	0.670000	0.20585	-1.868000	0.00555	0.965000	0.33920	0.012000	0.20211	0.012000	0.09680	0.568:0.1817:0.0944:0.1559	1.912	0.03090	698	0.58074	von Willebrand factor, type D domain|von Willebrand factor, type D domain|VWFC domain|von Willebrand factor, type D domain;von Willebrand factor, type D domain|von Willebrand factor, type D domain|VWFC domain|von Willebrand factor, type D domain;von Willebrand factor, type D domain|von Willebrand factor, type D domain|VWFC domain|von Willebrand factor, type D domain;von Willebrand factor, type D domain|von Willebrand factor, type D domain|VWFC domain|von Willebrand factor, type D 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	0.003030	0.000000	0.005435	0.000000	0.000000	0.000000	0.003086	0.011450	0.05	1992.43	126	chr7	100787922	.	G	A	1992.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.573;DP=438;ExcessHet=0;FS=1.473;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=15.81;ReadPosRankSum=0.434;SOR=0.546	GT:AD:DP:GQ:PL	0/1:50,76:126:99:2004,0,1209	9	0	1	0
chr7	100896640	100896640	C	A	exonic	ACHE	.	nonsynonymous SNV	ACHE:NM_001367918:exon1:c.G91T:p.G31W,ACHE:NM_001367919:exon1:c.G91T:p.G31W	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.167	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	2.067e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.7199	0.59468	T	0.218	0.58033	T	5	0.21526667	0.38073	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.849326	0.23491	16.04	0.92163858969621315	0.21526	0.45520	0.27557	N	AEFDGBHCI	.	.	.	-0.0656101177096989	0.38908	2.286116	-0.0929901516142829	0.35680	2.067062	0.999999999999781	0.74766	0.11394	0.02926	0	0.067947	0.01809	2	0.125351	0.03401	0	0.109499	0.03221	0	0.426372	0.38161	3.95	0.815	0.17904	0.305000	0.19006	-0.613000	0.08212	0.495000	0.22486	0.047000	0.21291	0.000000	0.08366	0.969000	0.54022	0.0:0.6052:0.1781:0.2168	5.126	0.14218	713	0.56348	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1111	34.04	2	chr7	100896640	.	C	A	34.04	.	AC=2;AF=0.111;AN=18;DP=23;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.056;MQ=60;QD=17.02;SOR=0.693	GT:AD:DP:GQ:PL	1/1:0,2:2:6:49,6,0	8	1	0	1
chr7	100952945	100952945	C	0	exonic	MUC3A	.	.	.	.	418	423	166	0	515	681	0.164032	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.35	2395.99	585	chr7	100952945	.	C	*	2395.99	.	AC=7;AF=0.35;AN=20;BaseQRankSum=0.589;DP=6147;ExcessHet=22.563;FS=0;InbreedingCoeff=-1;MLEAC=7;MLEAF=0.35;MQ=58.41;MQRankSum=-8.207;QD=0.39;ReadPosRankSum=3.15;SOR=0.697	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:369,164:585:99:0|1:100952942_T_G:5776,0,15001:100952942	3	0	7	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	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	839.43	689	chr7	100953071	.	C	T	839.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=6.53;DP=6631;ExcessHet=0;FS=10.71;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=57.09;MQRankSum=-3.765;QD=1.22;ReadPosRankSum=-1.463;SOR=1.99	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:624,65:689:99:0|1:100952942_T_G:851,0,26006:100952942	9	0	1	0
chr7	100954094	100954094	A	G	exonic	MUC3A	.	nonsynonymous SNV	MUC3A:NM_005960:exon2:c.A2315G:p.H772R	.	808	657	57	0	0	57	0.0415755	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs933695519	0.0094	0.0084	0.0088	0.0099	0.0595	0.0091	0.0090	0.0528	0.0502	0.0016	0.0072	0.0349	3.479e-05	0.0009	0.0595	0.0082	0.0130	0.0215	0.0083	0.0088	0.0080	0.0086	0.0316	0.0079	0.0078	0.0275	0.0259	0.0016	0.0787	0.0127	0.0336	0.0004	0.0009	0.0479	0.0089	0.0152	0.0316	.	.	.	0.213	0.27056	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.064	0.03613	.	.	.	.	.	.	.	0.0039747953	0.00077	T	.	.	.	.	.	.	.	.	.	0.02810929783616011	0.02760	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.304669	0.05813	T	.	.	.	.	.	.	.	.	-6.03	0.46530	T	.	.	0.163	0.35931	B	.;.	.;.	0.036165	0.04538	1.230	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-1.370000	0.02682	-8.607000	0.00942	-0.344000	0.05652	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	809	0.43032	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1	5130.14	276	chr7	100954094	.	A	G	5130.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-5.769;DP=3320;ExcessHet=0.2348;FS=6.062;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=56.35;MQRankSum=7.5;QD=8.42;ReadPosRankSum=0.749;SOR=0.751	GT:AD:DP:GQ:PL	0/1:183,93:276:99:2000,0,5699	8	0	2	0
chr7	100955959	100955959	A	G	exonic	MUC3A	.	nonsynonymous SNV	MUC3A:NM_005960:exon2:c.A4180G:p.T1394A	.	768	680	56	1	17	75	0.0409027	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1175400681	7.904e-05	0.0004	3.921e-05	0.0001	0.0008	5.602e-05	4.861e-05	0.0005	0.0004	0	5.076e-05	0.0003	0	0	0	2.158e-05	0.0001	0.0008	0.0006	0.0032	0.0006	0.0006	0.0031	0.0005	0.0005	0.0019	0.0015	0.0002	0.0025	0.0014	0.0009	0	9.978e-05	0.0040	0.0006	0.0020	0.0031	.	.	.	0.216	0.26306	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.059	0.03069	.	.	.	.	.	.	.	0.11744994	0.22181	T	.	.	.	.	.	.	.	.	.	0.03036875277365848	0.02985	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.260974	0.04439	T	.	.	.	.	.	.	.	.	-7.243	0.55789	T	.	.	0.110	0.21125	B	.;.	.;.	0.622094	0.09905	6.665	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.465000	0.21715	-2.074000	0.04252	0.688000	0.82842	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	.	.	.	809	0.43032	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1	2136.14	665	chr7	100955959	.	A	G	2136.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=0.731;DP=6655;ExcessHet=0.2348;FS=6.287;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=57.2;MQRankSum=-14.57;QD=1.7;ReadPosRankSum=1.46;SOR=1.237	GT:AD:DP:GQ:PL	0/1:511,106:665:99:1197,0,20162	8	0	2	0
chr7	105614066	105614066	G	C	exonic	ATXN7L1	.	nonsynonymous SNV	ATXN7L1:NM_138495:exon8:c.C1896G:p.D632E,ATXN7L1:NM_001318229:exon10:c.C1620G:p.D540E,ATXN7L1:NM_001385596:exon10:c.C2268G:p.D756E,ATXN7L1:NM_020725:exon10:c.C2268G:p.D756E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.064	0.00424335358371	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.12469	T	1.0	0.02548	T	0.005	0.18474	B	0.004	0.16460	B	0.000132	0.49741	D	0.138750	0.519982	0.31889	D	0.26	0.09897	N	1.61	0.28391	T	-0.19	0.09965	N	0.147	0.15046	-1.0469	0.15274	T	0.041	0.17573	T	10	0.10052198	0.18311	T	0.004243	0.10247	T	0.064	0.18567	0.097	0.01334	0.449283877778	0.44552	0.20088776075350473	0.20005	0.385026323921	0.39793	0.676552057266	0.63775	T	7.73E-4	0.01826	T	-0.215272	0.18644	T	-0.547	0.17614	T	0.663197338581085	0.39037	D	0.756224	0.39120	T	0.07353326	0.16438	0.0722084	0.15551	0.07353326	0.16438	0.0722084	0.15551	-4.221	0.27055	T	.	.	0.124	0.55438	B	.;.;.;.	.;.;.;.	2.105740	0.26793	17.24	0.47757704324101108	0.03930	0.83841	0.42935	D	AEFDBCI	0.391753	0.47007	N	-0.273951466123109	0.30158	1.678963	-0.0533374508611656	0.37345	2.185429	0.998690061336663	0.37477	0.67177	0.52595	0	0.588015	0.36545	0	0.702456	0.68683	0	0.491896	0.07777	0	.	.	5.41	4.33	0.51083	2.710000	0.46837	5.043000	0.46929	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.081:0.0:0.7785:0.1405	9.900	0.40514	921	0.19240	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2	401.13	131	chr7	105614066	.	G	C	401.13	.	AC=4;AF=0.2;AN=20;BaseQRankSum=-3.742;DP=1081;ExcessHet=1.5895;FS=151.643;InbreedingCoeff=-0.2631;MLEAC=4;MLEAF=0.2;MQ=60;MQRankSum=0;QD=0.95;ReadPosRankSum=1.66;SOR=9.84	GT:AD:DP:GQ:PL	0/1:98,30:131:99:202,0,2064	6	0	4	0
chr7	107701183	107701183	T	C	exonic	SLC26A4	.	nonsynonymous SNV	SLC26A4:NM_000441:exon16:c.T1790C:p.L597S	Deafness, autosomal recessive 4, with enlarged vestibular aqueduct, Autosomal recessive;Pendred syndrome, Autosomal recessive	6	1425	85	6	0	97	0.0329148	.	.	YES	52694	Pendred_syndrome|not_specified|Autosomal_recessive_nonsyndromic_hearing_loss_4|not_provided	MONDO:MONDO:0010134,MedGen:C0271829,OMIM:274600,Orphanet:705|MedGen:CN169374|MONDO:MONDO:0010933,MedGen:C3538946,OMIM:600791,Orphanet:90636|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.848	.	0.0063	0.00858626	0.0083	0.0013	0.0025	0	0.0011	0.0075	0.0044	0.0272	0.008137	1258	154602	rs55638457	0.0086	0.0087	0.0078	0.0094	0.0294	0.0085	0.0084	0.0285	0.0281	0.0013	0.0026	0.0204	0	0.0008	0.0166	0.0078	0.0083	0.0294	0.0062	0.0062	0.0061	0.0064	0.0282	0.0059	0.0058	0.0244	0.0229	0.0011	0	0.0069	0.0202	0.0004	0.0010	0.0170	0.0081	0.0099	0.0282	0.002	0.72154	D	0.072	0.43344	T	0.999	0.77913	D	0.987	0.77487	D	0.000026	0.55875	D	0.000000	0.996546	0.43267	D	2.005	0.54552	M	-3.23	0.93414	D	-4.43	0.77554	D	0.751	0.75009	0.778	0.94144	D	0.855	0.95166	D	10	0.008705229	0.00197	T	.	.	.	0.848	0.95286	.	.	0.993411842951	0.99333	0.7146361969492586	0.71406	0.0744065334722	0.08345	0.599259257317	0.52800	T	0.52255	0.83330	D	0.109073	0.65256	D	0.404849	0.92270	D	0.0128156377420309	0.00218	T	0.80172	0.44782	T	0.655183	0.75640	0.7329923	0.84221	0.6963972	0.77861	0.72609085	0.83821	-11.425	0.81937	D	0.3751398837757109	0.47022	0.915	0.83794	P	.;.	.;.	5.023850	0.83509	28.1	0.99875485699813071	0.95244	0.96669	0.70311	D	AEBI	0.844122	0.76110	D	0.665602469293769	0.77382	6.663954	0.656390780406368	0.79086	7.008897	0.999997293239954	0.74766	0.559995	0.30671	0	0.59043	0.45803	0	0.573888	0.23631	0	0.550183	0.17644	0	.	.	5.72	5.72	0.89380	6.175000	0.71875	7.921000	0.74526	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:0.0:1.0	16.000	0.80080	772	0.48957	STAS domain|STAS domain;STAS domain|STAS domain	.	.	.	.	rs55638457	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.014099	0.000000	0.006793	0.011696	0.050000	0.017241	0.024390	0.034091	0.05	1020.43	67	chr7	107701183	.	T	C	1020.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.569;DP=379;ExcessHet=0;FS=0.949;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=15.23;ReadPosRankSum=0.748;SOR=0.507	GT:AD:DP:GQ:PL	0/1:27,40:67:99:1032,0,661	9	0	1	0
chr7	130733852	130733852	G	A	exonic	KLF14	.	nonsynonymous SNV	KLF14:NM_138693:exon1:c.C182T:p.A61V	.	455	1066	1	0	0	1	0.000468823	.	.	.	2253304	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.019	0.0406182100139	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.351e-07	7.53e-06	0	1.716e-06	1.007e-06	0	0	.	.	0	0	0	0	0	0	1.007e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.198	0.27767	T	0.01	0.15535	B	0.001	0.04355	B	.	.	.	.	1	0.08975	N	0	0.06538	N	2.64	0.12780	T	.	.	.	0.056	0.02759	-0.9211	0.45403	T	0.009	0.03183	T	9	0.053214878	0.05477	T	0.040618	0.59475	D	.	.	0.115	0.02372	0.0138822411134	0.00435	0.18292041666853723	0.18211	.	.	0.882520258427	0.94297	D	0.004166	0.03571	T	-0.392775	0.02581	T	-0.801971	0.01853	T	0.0833732471156965	0.10413	T	0.433957	0.11861	T	0.01727105	0.00259	0.04104004	0.04573	0.01727105	0.00259	0.04104004	0.04573	-4.503	0.30928	T	.	.	0.182	0.39545	B	.	.	2.042610	0.25964	16.95	0.99602663922479884	0.74278	0.02846	0.07600	N	AEFDBHCIJ	0.029561	0.02814	N	-1.4166812089282	0.02492	0.1101173	-1.44047492435933	0.02857	0.1322277	0.999999215297659	0.74766	0.495885	0.18260	0	0.491552	0.07993	0	0.608004	0.38603	0	0.554799	0.18163	0	.	.	2.25	0.307	0.15057	0.268000	0.18336	1.951000	0.29885	-0.421000	0.05231	0.099000	0.22773	0.873000	0.27615	0.039000	0.14166	0.3951:0.0:0.6049:0.0	4.171	0.09792	928	0.17405	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	294.45	15	chr7	130733852	.	G	A	294.45	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.378;DP=129;ExcessHet=0;FS=2.216;InbreedingCoeff=-0.0544;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=19.63;ReadPosRankSum=-1.288;SOR=0.273	GT:AD:DP:GQ:PL	0/1:5,10:15:99:306,0,132	9	0	1	0
chr7	134163425	134163425	G	T	exonic	LRGUK	.	nonsynonymous SNV	LRGUK:NM_001365700:exon7:c.G824T:p.G275V,LRGUK:NM_001365701:exon7:c.G824T:p.G275V,LRGUK:NM_144648:exon7:c.G824T:p.G275V	.	431	1077	14	0	0	14	0.00645756	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.375	0.0442243274613	0.0004	0.00119808	0.0011	0	0.0002	0	0	0.0004	0.0011	0.0065	0.000912	141	154602	rs151096154	0.0005	0.0005	0.0003	0.0007	0.0059	0.0005	0.0005	0.0055	0.0053	0	0.0002	0.0029	0	0	0.0026	6.746e-05	0.0006	0.0059	0.0003	0.0003	0.0003	0.0004	0.0046	0.0003	0.0002	0.0031	0.0026	0	0	0.0003	0.0035	0.0002	0	0	0.0001	0.0005	0.0046	0.002	0.72154	D	0.007	0.69154	D	0.988	0.62325	D	0.954	0.69447	D	0.000220	0.47681	D	0.187222	0.999999	0.58761	D	2.75	0.80375	M	-0.21	0.66294	T	-6.23	0.90490	D	0.625	0.63968	0.022	0.82694	D	0.451	0.78497	T	10	0.013947934	0.00294	T	0.044224	0.61383	D	0.375	0.69358	.	.	0.759413666507	0.75722	0.5123889596735361	0.51160	0.341207361243	0.36058	0.423825770617	0.28363	T	0.060127	0.31303	T	-0.272933	0.11432	T	-0.162214	0.58151	T	0.130916499232425	0.15466	T	0.806819	0.45619	T	0.9443252	0.95688	0.8603727	0.92204	0.9443252	0.95688	0.8603727	0.92205	-12.855	0.88757	D	.	.	0.452	0.69411	A	.;.	.;.	4.620023	0.73354	26.0	0.9971063638030232	0.81283	0.95142	0.63592	D	AEFGBI	0.446843	0.50273	N	0.690605609038825	0.79018	6.989674	0.614683858076732	0.76004	6.412114	0.999732947377007	0.42341	0.553676	0.25195	0	0.588015	0.36545	0	0.602189	0.34648	0	0.586402	0.36253	0	.	.	5.94	5.94	0.96165	5.885000	0.69480	11.848000	0.97994	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.304000	0.24594	0.0:0.0:1.0:0.0	19.116	0.93327	863	0.32847	.;.	.	.	.	.	.	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	0.002520	0.000000	0.000000	0.000000	0.000000	0.008621	0.003067	0.007576	0.05	870.43	57	chr7	134163425	.	G	T	870.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.639;DP=352;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=15.27;ReadPosRankSum=0.016;SOR=0.772	GT:AD:DP:GQ:PL	0/1:25,32:57:99:882,0,623	9	0	1	0
chr7	138580592	138580592	C	G	exonic	TRIM24	.	nonsynonymous SNV	TRIM24:NM_003852:exon16:c.C2514G:p.D838E,TRIM24:NM_015905:exon16:c.C2616G:p.D872E	.	8	1511	3	0	0	3	0.000991736	.	.	.	699867	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.271	.	0.0087	0.00219649	0.0083	0.0012	0.0066	0	0.0086	0.0124	0.0066	0.0015	0.0078071	1207	154602	rs61751967	0.0091	0.0091	0.0093	0.0089	0.0104	0.0089	0.0089	0.0103	0.0102	0.0013	0.0051	0.0079	0	0.0095	0.0010	0.0104	0.0090	0.0013	0.0063	0.0063	0.0066	0.0061	0.0101	0.0060	0.0059	0.0095	0.0092	0.0015	0	0.0043	0.0078	0.0002	0.0104	0	0.0101	0.0014	0.0017	0.004	0.65419	D	0.11	0.38305	T	0.581	0.43037	P	0.357	0.44625	B	0.000017	0.62929	D	0.183018	0.996631	0.81001	D	1.05	0.26816	L	-2.19	0.86815	D	-2.35	0.51968	N	0.429	0.58202	-0.3057	0.74826	T	0.362	0.72354	T	10	0.010393947	0.00232	T	.	.	.	0.271	0.58633	0.297	0.26202	0.803324511935	0.80148	0.7293627759519069	0.72881	0.857420482811	0.68807	0.6535602808	0.60491	T	0.185037	0.53788	T	-0.347952	0.04857	T	-0.262198	0.48605	T	0.0198910645082472	0.00690	T	0.90031	0.65351	D	0.54679	0.69777	0.36327064	0.61716	0.54679	0.69778	0.36327064	0.61716	-9.684	0.71998	D	.	.	0.761	0.76059	P	.;.	.;.	2.823716	0.37210	20.4	0.99685230606863384	0.79507	0.96202	0.68004	D	AEFDBI	0.370024	0.45654	N	0.0642753810333064	0.44800	2.74765	0.1705249509527	0.48239	3.042602	0.954257683427303	0.28121	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.66	4.78	0.60666	0.840000	0.27253	0.233000	0.16214	0.599000	0.40250	1.000000	0.71638	0.979000	0.30280	1.000000	0.97212	0.0:0.7972:0.0:0.2028	9.501	0.38185	900	0.24599	Zinc finger, PHD-finger;Zinc finger, PHD-finger	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.000504	0.000000	0.001359	0.002924	0.000000	0.000000	0.000000	0.003788	0.05	1141.43	109	chr7	138580592	.	C	G	1141.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.518;DP=421;ExcessHet=0;FS=0.737;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.47;ReadPosRankSum=-0.266;SOR=0.845	GT:AD:DP:GQ:PL	0/1:62,47:109:99:1153,0,1673	9	0	1	0
chr7	143478290	143478290	A	G	exonic	TAS2R41	.	nonsynonymous SNV	TAS2R41:NM_176883:exon1:c.A418G:p.I140V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.3	803.53	120	chr7	143478290	.	A	G	803.53	.	AC=6;AF=0.3;AN=20;BaseQRankSum=-2.814;DP=831;ExcessHet=4.5998;FS=159.303;InbreedingCoeff=-0.3902;MLEAC=5;MLEAF=0.25;MQ=60;MQRankSum=0;QD=1.4;ReadPosRankSum=0.371;SOR=9.608	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:106,14:120:2:0|1:143478290_A_G:2,0,3753:143478290	4	0	6	0
chr7	144319004	144319004	G	A	exonic	OR2A1;OR2A42	.	nonsynonymous SNV	OR2A42:NM_001001802:exon1:c.G880A:p.G294R,OR2A1:NM_001005287:exon2:c.G880A:p.G294R	.	748	764	9	1	0	11	0.0071475	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	.	.	.	0.0120	0.0078	0	0	0	0.0036	0	0.1026	.	.	.	rs1282864820	0.0038	0.0045	0.0027	0.0048	0.0173	0.0037	0.0036	0.0163	0.0159	0.0005	0.0012	0.0063	0	0.0002	0.0054	0.0026	0.0031	0.0173	0.0020	0.0028	0.0019	0.0022	0.0196	0.0018	0.0018	0.0157	0.0143	0.0003	0	0.0011	0.0060	0.0002	0.0001	0	0.0024	0.0013	0.0196	0.067	0.35918	T	0.09	0.40267	T	.	.	.	.	.	.	0.952443	0.07664	U	1.041620	1	0.08975	N	-1.16	0.00885	N	1.37	0.34253	T	0.69	0.02195	N	0.102	0.08506	-0.9860	0.33590	T	0.022	0.09147	T	8	0.0032540858	0.00056	T	.	.	.	0.014	0.01968	0.447	0.50629	0.165150595986	0.16160	0.07496083586653808	0.07432	.	.	0.193813040853	0.00300	T	0.001541	0.00986	T	-0.312523	0.07529	T	-0.686694	0.06582	T	0.00598924206153479	0.00066	T	0.234177	0.03217	T	0.093617946	0.21991	0.10290255	0.24676	0.093617946	0.21991	0.10290255	0.24675	1.827	0.00061	T	.	.	0.083	0.09191	B	.;.	.;.	0.059318	0.04708	1.344	0.60138749429665128	0.06391	0.00381	0.01927	N	AEFI	0.079888	0.16143	N	-1.33598359763128	0.03272	0.145902	-1.46145638535985	0.02668	0.1231349	2.73440094774957E-5	0.03498	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	3.46	-5.32	0.02511	-0.011000	0.12659	-3.640000	0.02638	-0.105000	0.15698	0.000000	0.06391	0.000000	0.08366	0.019000	0.11356	0.6236:0.0:0.2418:0.1346	6.510	0.21416	948	0.11499	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.009000	0.000000	0.000000	0.009091	0.000000	0.000000	0.006173	0.051471	0.07143	63.11	8	chr7	144319004	.	G	A	63.11	.	AC=1;AF=0.071;AN=14;BaseQRankSum=2.37;DP=24;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=27;MQRankSum=0;QD=7.89;ReadPosRankSum=-0.992;SOR=0.368	GT:AD:DP:GQ:PL	0/1:5,3:8:71:71,0,134	6	0	1	3
chr7	151187631	151187631	G	C	exonic	ASB10	.	nonsynonymous SNV	ASB10:NM_080871:exon1:c.C92G:p.S31C	Glaucoma 1, open angle, F	396	1125	1	0	0	1	0.000444247	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.172	0.0514428053826	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1214454118	7.936e-06	8.209e-06	7.091e-06	8.812e-06	0.0002	4.26e-06	3.11e-06	4.73e-06	3.45e-06	0	0	0	0	0	0.0002	9.355e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.017	0.51248	D	0.04	0.50809	D	0.545	0.37995	P	0.242	0.38699	B	0.097902	0.02519	N	1.826310	1	0.08975	N	.	.	.	-0.38	0.69027	T	-1.58	0.38151	N	0.258	0.29197	-0.7776	0.56437	T	0.230	0.59620	T	9	0.16735628	0.31226	T	0.051443	0.64664	D	0.172	0.43662	0.521	0.62368	0.4018988957	0.39804	.	.	.	.	.	.	.	.	.	.	-0.136098	0.30513	T	-0.417786	0.31331	T	0.288890570402145	0.24543	T	0.425557	0.11413	T	.	.	.	.	.	.	.	.	-4.289	0.28023	T	.	.	0.078	0.06710	B	.	.	1.227648	0.16223	12.40	0.98460301739318523	0.41734	0.25080	0.22591	N	AEFBI	0.121820	0.23667	N	-0.377981273400016	0.26254	1.431523	-0.501004591343504	0.22127	1.200275	0.991417946025243	0.32481	0.497415	0.19182	0	0.547309	0.14657	0	0.578056	0.29568	0	0.542086	0.14980	0	.	.	3.67	1.51	0.22094	1.286000	0.32877	4.491000	0.43571	0.676000	0.76740	0.007000	0.17678	0.793000	0.26880	0.055000	0.15596	0.0:0.3697:0.6303:0.0	10.234	0.42447	906	0.23090	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.15	4018.43	91	chr7	151187631	.	G	C	4018.43	.	AC=3;AF=0.15;AN=20;BaseQRankSum=2.38;DP=473;ExcessHet=0;FS=1.222;InbreedingCoeff=0.6078;MLEAC=3;MLEAF=0.15;MQ=60;MQRankSum=0;QD=20.82;ReadPosRankSum=0.813;SOR=0.567	GT:AD:DP:GQ:PL	1/1:0,91:91:99:2948,273,0	8	1	1	0
chr8	6444505	6444505	T	A	exonic	MCPH1	.	nonsynonymous SNV	MCPH1:NM_001172575:exon7:c.T639A:p.D213E,MCPH1:NM_001172574:exon8:c.T783A:p.D261E,MCPH1:NM_001322042:exon8:c.T783A:p.D261E,MCPH1:NM_001322043:exon8:c.T777A:p.D259E,MCPH1:NM_001322045:exon8:c.T681A:p.D227E,MCPH1:NM_001363979:exon8:c.T783A:p.D261E,MCPH1:NM_001363980:exon8:c.T783A:p.D261E,MCPH1:NM_024596:exon8:c.T783A:p.D261E	Microcephaly 1, primary, autosomal recessive, Autosomal recessive	1	1504	17	0	0	17	0.00561983	.	.	.	207566	Intellectual_disability|not_specified|not_provided|Microcephaly_1,_primary,_autosomal_recessive	Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756|MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0009617,MedGen:C1855081,OMIM:251200,Orphanet:2512,Orphanet:52183	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.033	0.00413134962085	0.0003	0.000199681	0.0006	0	0.0007	0	0	0.0006	0.0033	0.0015	0.0005304	82	154602	rs199700538	0.0005	0.0005	0.0004	0.0006	0.0059	0.0005	0.0005	0.0043	0.0038	8.961e-05	0.0011	0.0016	0	0	0.0059	0.0004	0.0009	0.0015	0.0005	0.0005	0.0005	0.0006	0.0017	0.0004	0.0004	0.0009	0.0007	7.215e-05	0	0.0013	0.0009	0	0	0.0068	0.0006	0.0005	0.0017	0.593	0.08261	T	1.0	0.01155	T	0.029	0.19866	B	0.039	0.23607	B	0.209793	0.03378	N	1.468830	1	0.08975	N	2.085	0.57729	M	2.7	0.12162	T	-0.69	0.25551	N	0.024	0.02366	-0.9732	0.36518	T	0.035	0.14943	T	10	0.0067489743	0.00153	T	0.004131	0.09900	T	0.033	0.08068	0.255	0.19533	0.272205846399	0.26826	0.13031991242283092	0.12956	.	.	0.267215013504	0.05780	T	0.102983	0.41121	T	-0.688158	0.00043	T	-0.801801	0.01858	T	0.028826725556393	0.01811	T	.	.	.	0.03121103	0.02920	0.024096226	0.00425	0.03121103	0.02919	0.024096226	0.00425	-3.912	0.22482	T	.	.	0.140	0.43130	B	.;.;.	.;.;.	-0.665697	0.01402	0.082	0.88018620406416404	0.17654	0.02613	0.07191	N	AEFDBI	0.035837	0.04678	N	-1.11324266808187	0.06406	0.2948067	-1.26429075845513	0.04923	0.2333735	0.999452915628429	0.39788	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.12	-6.11	0.01950	-1.577000	0.02231	-6.592000	0.01357	0.665000	0.62972	0.000000	0.06391	0.000000	0.08366	0.751000	0.35822	0.2522:0.35:0.1368:0.2609	1.243	0.01848	975	0.05339	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.005035	0.005051	0.002717	0.008772	0.000000	0.000000	0.012195	0.000000	0.05	1208.43	125	chr8	6444505	.	T	A	1208.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.72;DP=455;ExcessHet=0;FS=0.691;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.67;ReadPosRankSum=-1.247;SOR=0.573	GT:AD:DP:GQ:PL	0/1:78,47:125:99:1220,0,2164	9	0	1	0
chr8	8703108	8703108	-	CAAGCC	exonic	CLDN23	.	nonframeshift insertion	CLDN23:NM_194284:exon1:c.710_711insCAAGCC:p.K244_V245insPK	.	0	222	4	0	0	4	0.00892857	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0075	.	0.0064	0.026	0.0037	0	0	0.0020	0.0130	0.0135	0.001191	31	26028	rs57083604	0.0030	0.0031	0.0027	0.0032	0.0260	0.0029	0.0029	0.0245	0.0239	0.0260	0.0023	0.0049	2.809e-05	0.0003	0.0064	0.0016	0.0047	0.0138	0.0091	0.0092	0.0092	0.0090	0.0272	0.0087	0.0086	0.0259	0.0254	0.0272	0	0.0039	0.0058	0.0002	0.0002	0.0034	0.0017	0.0052	0.0098	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	1349.39	80	chr8	8703108	.	G	GCAAGCC	1349.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.93;DP=436;ExcessHet=0;FS=0.847;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=16.87;ReadPosRankSum=-0.883;SOR=0.628	GT:AD:DP:GQ:PL	0/1:43,37:80:99:1361,0,1655	9	0	1	0
chr8	28068331	28068331	T	C	exonic	NUGGC	.	nonsynonymous SNV	NUGGC:NM_001010906:exon5:c.A365G:p.Q122R	.	427	1094	1	0	0	1	0.00045683	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.222	0.0472481721105	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1390323579	9.908e-06	9.577e-06	8.391e-06	1.146e-05	0.0010	5.75e-06	4.5e-06	0.0004	0.0002	0	0	0	0	0	0.0010	1.841e-06	0.0001	1.251e-05	1.971e-05	1.97e-05	2.569e-05	1.345e-05	.	5.24e-06	2.45e-06	.	.	0	0	0	0	0	0	0.0032	0	0.0010	0	0.352	0.12226	T	0.569	0.08839	T	0.001	0.07471	B	0.004	0.10090	B	0.227167	0.16003	N	0.584437	0.996086	0.23119	N	1.1	0.28011	L	-3.67	0.95247	D	-1.52	0.36980	N	0.119	0.10911	-0.2789	0.75571	T	0.633	0.87139	D	10	0.13739082	0.26134	T	0.047248	0.62833	D	0.222	0.51872	0.365	0.37199	0.629698297941	0.62667	0.4325941464345153	0.43176	0.101844781819	0.11526	0.312389314175	0.12267	T	0.242888	0.61171	T	0.0277093	0.55417	T	-0.197974	0.54839	T	0.0880817845463753	0.10988	T	0.508249	0.16142	T	0.20864348	0.43107	0.16944228	0.38978	0.20864348	0.43107	0.16944228	0.38978	-2.811	0.08285	T	.	.	0.075	0.05491	B	.	.	2.339168	0.29972	18.29	0.98801406165835359	0.46461	0.71367	0.34983	D	AEFBI	0.205080	0.33146	N	-0.356492140565923	0.27035	1.480101	-0.184904639387168	0.32090	1.822314	0.9974780085545	0.35657	0.625279	0.40028	0	0.60822	0.50512	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	5.68	3.22	0.36041	1.975000	0.40192	1.978000	0.30020	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.983000	0.59808	0.0:0.1704:0.0:0.8296	7.661	0.27571	917	0.20147	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1258.43	112	chr8	28068331	.	T	C	1258.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.794;DP=443;ExcessHet=0;FS=0.706;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.24;ReadPosRankSum=1.85;SOR=0.837	GT:AD:DP:GQ:PL	0/1:55,57:112:99:1270,0,1310	9	0	1	0
chr8	28780872	28780872	G	C	exonic	INTS9	.	nonsynonymous SNV	INTS9:NM_001145159:exon11:c.C1158G:p.H386Q,INTS9:NM_001172562:exon12:c.C1149G:p.H383Q,INTS9:NM_001363038:exon12:c.C1221G:p.H407Q,INTS9:NM_018250:exon12:c.C1221G:p.H407Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.284	0.016436562205	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.053e-06	2.942e-05	2.723e-06	1.375e-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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.68238	D	0.007	0.69154	D	0.943	0.53072	P	0.823	0.59197	P	0.000000	0.84330	D	0.000000	0.999999	0.58761	D	1.935	0.51832	L	0.9	0.46412	T	-6.4	0.91184	D	0.958	0.97317	-0.8865	0.49231	T	0.159	0.49296	T	10	0.78347826	0.78049	D	0.016437	0.37697	T	0.284	0.60219	0.331	0.31681	0.611786747218	0.60866	0.7458400941079445	0.74530	1.09661947037	0.77599	0.802756369114	0.82384	T	0.389927	0.75023	T	0.189418	0.72910	D	0.0343095	0.72559	D	0.994060456752777	0.85148	D	0.789321	0.45144	T	0.9127507	0.92552	0.8257955	0.89911	0.9127507	0.92554	0.8257955	0.89912	-11.639	0.83227	D	.	.	0.945	0.89314	P	.;.;.	.;.;.	3.184076	0.43231	21.7	0.99337460911012421	0.60051	0.90823	0.52327	D	AEFBI	0.386581	0.46689	N	0.15838004896007	0.49210	3.123909	0.105560327046998	0.44831	2.757433	0.984078514391494	0.30659	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.635551	0.53088	0	.	.	5.97	0.193	0.14419	0.609000	0.23935	1.081000	0.23892	0.676000	0.76740	1.000000	0.71638	0.999000	0.35428	1.000000	0.97212	0.5112:0.0:0.4888:0.0	10.624	0.44686	533	0.73433	Beta-Casp domain|Beta-Casp domain;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.15	89.54	88	chr8	28780872	.	G	C	89.54	.	AC=3;AF=0.15;AN=20;BaseQRankSum=-3.73;DP=850;ExcessHet=0.7463;FS=181.973;InbreedingCoeff=-0.1741;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=0.32;ReadPosRankSum=-0.401;SOR=10.087	GT:AD:DP:GQ:PL	0/1:62,26:88:6:6,0,1235	7	0	3	0
chr8	30653495	30653497	GAT	-	exonic	GTF2E2	.	nonframeshift deletion	GTF2E2:NM_001348353:exon2:c.102_104del:p.S36del,GTF2E2:NM_002095:exon2:c.102_104del:p.S36del	Trichothiodystrophy 6, nonphotosensitive, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	1007971	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	.	.	0.0228	.	4.119e-05	0	0	0	0	7.493e-05	0	0	3.23e-05	5	154602	rs572162637	4.518e-05	0.0002	4.223e-05	4.815e-05	0.0003	3.643e-05	3.323e-05	6.096e-05	3.828e-05	2.99e-05	6.711e-05	0	0	0	0.0003	5.309e-05	1.657e-05	0	5.917e-05	5.911e-05	8.996e-05	2.693e-05	0.0001	3.079e-05	2.211e-05	5.842e-05	4.239e-05	0	0	0	0	0	0	0	0.0001	0.0005	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	2045.39	137	chr8	30653494	.	CGAT	C	2045.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.128;DP=457;ExcessHet=0;FS=4.132;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.93;ReadPosRankSum=0.31;SOR=0.776	GT:AD:DP:GQ:PL	0/1:82,55:137:99:2057,0,3257	9	0	1	0
chr8	31081176	31081176	G	T	exonic	WRN	.	nonsynonymous SNV	WRN:NM_000553:exon9:c.G1149T:p.L383F	Werner syndrome, Autosomal recessive	1	1489	32	0	0	32	0.0106312	.	.	.	139191	Inborn_genetic_diseases|not_provided|not_specified|Werner_syndrome	MeSH:D030342,MedGen:C0950123|MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0010196,MedGen:C0043119,OMIM:277700,Orphanet:902	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.072	0.00724604985301	0.0019	0.000399361	0.0019	0.0003	0.0009	0	0	0.0030	0.0044	0.0010	0.0017917	277	154602	rs4987238	0.0021	0.0021	0.0020	0.0022	0.0276	0.0020	0.0020	0.0241	0.0227	0.0004	0.0013	0.0192	0	1.872e-05	0.0276	0.0018	0.0036	0.0009	0.0015	0.0015	0.0016	0.0014	0.0018	0.0013	0.0013	0.0016	0.0015	0.0003	0	0.0010	0.0179	0	0	0.0136	0.0018	0.0033	0.0012	0.311	0.13971	T	0.707	0.05582	T	0.032	0.20242	B	0.007	0.12992	B	0.874172	0.07195	N	1.060040	1	0.08975	N	1.385	0.34509	L	0.83	0.47815	T	-0.78	0.21644	N	0.025	0.00485	-0.9838	0.34116	T	0.106	0.38685	T	10	0.0043698847	0.00089	T	0.007246	0.19225	T	0.072	0.21020	0.213	0.13210	0.491387584038	0.48772	0.04588990669380515	0.04532	0.0753959073124	0.08455	0.262398391962	0.05179	T	0.095818	0.39698	T	-0.623942	0.00104	T	-0.674883	0.07299	T	0.00495090852810378	0.00053	T	0.770523	0.40040	T	0.034200236	0.03792	0.045732096	0.06218	0.034200236	0.03791	0.045732096	0.06217	-4.593	0.32083	T	.	.	0.080	0.07697	B	.	.	0.499331	0.08683	5.456	0.93749542811801623	0.23689	0.03937	0.09332	N	AEFGBI	0.030105	0.02966	N	-0.772016437860401	0.14043	0.696366	-0.793203896759729	0.14662	0.7672316	0.597838118475806	0.21700	0.732398	0.92422	0	0.709663	0.81188	0	0.724815	0.87919	0	0.727631	0.95156	0	.	.	5.73	2.78	0.31702	0.233000	0.17689	1.304000	0.25494	0.676000	0.76740	0.000000	0.06391	0.030000	0.21233	0.268000	0.23719	0.2133:0.2196:0.4176:0.1494	1.311	0.01970	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	1	0	0	0	0	0	0	0.020645	0.015152	0.020380	0.038012	0.000000	0.017241	0.018293	0.007576	0.05	2368.43	177	chr8	31081176	.	G	T	2368.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.932;DP=502;ExcessHet=0;FS=1.165;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.38;ReadPosRankSum=-0.83;SOR=0.795	GT:AD:DP:GQ:PL	0/1:82,95:177:99:2380,0,2087	9	0	1	0
chr8	31141445	31141445	G	A	exonic	WRN	.	nonsynonymous SNV	WRN:NM_000553:exon25:c.G2983A:p.A995T	Werner syndrome, Autosomal recessive	1	1484	36	1	0	38	0.0126414	.	.	.	139167	Inborn_genetic_diseases|not_provided|Werner_syndrome|not_specified	MeSH:D030342,MedGen:C0950123|MedGen:C3661900|MONDO:MONDO:0010196,MedGen:C0043119,OMIM:277700,Orphanet:902|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.066	0.0142841589723	0.0021	0.000798722	0.0022	0.0004	0.0010	0	0.0003	0.0034	0.0044	0.0012	0.0021022	325	154602	rs140768346	0.0026	0.0026	0.0025	0.0027	0.0295	0.0026	0.0025	0.0259	0.0245	0.0005	0.0015	0.0192	0	5.619e-05	0.0295	0.0025	0.0041	0.0011	0.0019	0.0019	0.0020	0.0019	0.0025	0.0018	0.0017	0.0022	0.0021	0.0004	0	0.0014	0.0179	0	0.0003	0.0204	0.0025	0.0028	0.0019	0.324	0.13392	T	0.304	0.20100	T	0.017	0.17573	B	0.058	0.26451	B	0.252354	0.15483	N	0.630262	0.999545	0.21009	N	0.795	0.19620	N	1.53	0.30401	T	-0.25	0.11008	N	0.2	0.22098	-1.0227	0.22834	T	0.063	0.26065	T	10	0.0060808063	0.00137	T	0.014284	0.34290	T	0.066	0.19193	.	.	0.299770980665	0.29595	0.23676757135110346	0.23591	0.238658711535	0.26417	0.226337969303	0.01708	T	0.048457	0.28023	T	-0.6166	0.00115	T	-0.662158	0.08121	T	0.0372142826529824	0.03193	T	0.90001	0.65253	D	0.11089363	0.26208	0.12198463	0.29427	0.11089363	0.26208	0.12198463	0.29426	-5.791	0.44496	T	.	.	0.100	0.16973	B	.	.	1.828253	0.23228	15.94	0.90964001631862723	0.20213	0.27327	0.23246	N	AEFBI	0.074469	0.14928	N	-0.965281582660989	0.09353	0.4422917	-0.971277882023538	0.10434	0.5254635	1.80461950712907E-4	0.05786	0.732398	0.92422	0	0.708844	0.79440	0	0.743671	0.96076	0	0.727631	0.95156	0	.	.	5.32	-2.44	0.06126	0.213000	0.17310	0.013000	0.13471	0.618000	0.50648	0.330000	0.25589	0.000000	0.08366	0.837000	0.39485	0.0:0.8642:0.1358:0.0	25.334	0.99994	948	0.11499	RQC domain|RQC domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	0.022155	0.010101	0.020380	0.040936	0.000000	0.034483	0.015244	0.011364	0.05	1059.43	68	chr8	31141445	.	G	A	1059.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.657;DP=378;ExcessHet=0;FS=1.024;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=15.58;ReadPosRankSum=-0.086;SOR=0.89	GT:AD:DP:GQ:PL	0/1:30,38:68:99:1071,0,845	9	0	1	0
chr8	33592032	33592032	C	T	exonic	DUSP26	.	nonsynonymous SNV	DUSP26:NM_001305116:exon3:c.G617A:p.R206Q,DUSP26:NM_001305115:exon4:c.G617A:p.R206Q,DUSP26:NM_024025:exon4:c.G617A:p.R206Q	.	423	1079	20	0	0	20	0.00918274	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.173	.	0.0042	0.00299521	0.0078	0.0008	0.0237	0.0017	0.0083	0.0064	0.0111	0.0096	0.007128	1102	154602	rs144929688	0.0064	0.0064	0.0062	0.0065	0.0187	0.0062	0.0062	0.0176	0.0172	0.0007	0.0187	0.0018	0.0015	0.0094	0.0044	0.0059	0.0052	0.0105	0.0058	0.0058	0.0050	0.0066	0.0140	0.0055	0.0053	0.0125	0.0119	0.0014	0.0143	0.0140	0.0020	0.0037	0.0085	0.0102	0.0063	0.0028	0.0085	0.245	0.17410	T	0.524	0.10317	T	0.995	0.67487	D	0.846	0.60472	P	0.009268	0.30438	N	0.302728	0.998217	0.44638	D	0.415	0.12483	N	0.16	0.60610	T	-0.91	0.24460	N	0.411	0.45142	-0.9003	0.47962	T	0.132	0.44445	T	10	0.0071424246	0.00162	T	.	.	.	0.173	0.43840	.	.	0.852236254791	0.85081	0.7260099008780219	0.72544	0.565652636351	0.52896	0.457296043634	0.32940	T	0.034618	0.23393	T	-0.330154	0.06101	T	-0.230763	0.51698	T	0.014204565970665	0.00280	T	0.758824	0.38273	T	0.42837644	0.62646	0.23189811	0.48335	0.42837644	0.62646	0.23189811	0.48334	-5.738	0.44031	T	.	.	0.112	0.25034	B	.;.	.;.	3.952577	0.57911	23.9	0.99655955644390981	0.77631	0.96912	0.71619	D	AEFDBCI	0.928929	0.91391	D	0.444090876967139	0.63867	4.629105	0.473415853926189	0.66234	4.925591	0.994686813683884	0.33752	0.615465	0.37627	0	0.59043	0.45803	0	0.658983	0.55881	0	0.542086	0.14980	0	.	.	4.8	4.8	0.61157	5.223000	0.65114	5.993000	0.52362	0.589000	0.31548	1.000000	0.71638	1.000000	0.68203	0.973000	0.55318	0.0:1.0:0.0:0.0	16.002	0.80097	830	0.39242	Dual specificity protein phosphatase domain;Dual specificity protein phosphatase 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	0.005539	0.000000	0.006793	0.002924	0.000000	0.000000	0.006098	0.011364	0.05	1065.43	79	chr8	33592032	.	C	T	1065.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.86;DP=397;ExcessHet=0;FS=2.063;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.49;ReadPosRankSum=1.14;SOR=0.46	GT:AD:DP:GQ:PL	0/1:40,39:79:99:1077,0,1045	9	0	1	0
chr8	38457381	38457381	C	G	exonic	FGFR1	.	nonsynonymous SNV	FGFR1:NM_001174063:exon2:c.G66C:p.R22S,FGFR1:NM_001174065:exon2:c.G66C:p.R22S,FGFR1:NM_001174066:exon2:c.G66C:p.R22S,FGFR1:NM_001354367:exon2:c.G66C:p.R22S,FGFR1:NM_001354368:exon2:c.G66C:p.R22S,FGFR1:NM_001354369:exon2:c.G66C:p.R22S,FGFR1:NM_001354370:exon2:c.G66C:p.R22S,FGFR1:NM_015850:exon2:c.G66C:p.R22S,FGFR1:NM_023105:exon2:c.G66C:p.R22S,FGFR1:NM_023106:exon2:c.G66C:p.R22S,FGFR1:NM_023110:exon2:c.G66C:p.R22S,FGFR1:NM_001174067:exon3:c.G165C:p.R55S	Encephalocraniocutaneous lipomatosis, Somatic mosaicism;Hartsfield syndrome, Autosomal dominant;Hypogonadotropic hypogonadism 2 with or without anosmia, Autosomal dominant;Jackson-Weiss syndrome, Autosomal dominant;Osteoglophonic dysplasia, Autosomal dominant;Pfeiffer syndrome, Autosomal dominant;Trigonocephaly 1, Autosomal dominant	.	.	.	.	.	.	.	.	.	YES	1155959	not_specified|not_provided|Osteoglophonic_dysplasia|FGFR1-related_disorder|Hypogonadotropic_hypogonadism_2_with_or_without_anosmia|Pfeiffer_syndrome	MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0008150,MedGen:C0432283,OMIM:166250,Orphanet:2645|.|MONDO:MONDO:0007844,MedGen:C1563720,OMIM:147950,Orphanet:478|MONDO:MONDO:0007043,MedGen:C0220658,OMIM:101600,Orphanet:710	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.465	.	7.7e-05	0.00279553	0.0014	0.0002	8.688e-05	0	0	0	0.0011	0.0097	0.0011578	179	154602	rs17175750	0.0005	0.0005	0.0003	0.0007	0.0078	0.0005	0.0005	0.0073	0.0071	2.987e-05	0	0	2.519e-05	0	0.0002	3.597e-06	0.0007	0.0078	0.0003	0.0003	0.0002	0.0003	0.0085	0.0002	0.0002	0.0064	0.0057	0	0	0	0	0	0	0	1.47e-05	0	0.0085	0.002	0.78490	D	0.378	0.70582	T	0.956	0.70673	P	0.781	0.83170	P	0.022490	0.26624	N	0.322762	0.993772	0.81001	D	0.895	0.22405	L	-1.24	0.81559	T	-1.8	0.89401	N	0.516	0.62950	-0.1495	0.78928	T	0.461	0.79083	T	10	0.009594858	0.00216	T	.	.	.	0.465	0.76089	0.385	0.40460	0.84487089009	0.84338	0.46804233149893054	0.46723	0.0422214061443	0.04548	0.524455547333	0.42254	T	0.584637	0.86451	D	-0.160548	0.26675	T	0.00314656	0.70540	D	0.0468146993580419	0.04931	T	0.950805	0.91818	D	0.11322813	0.26743	0.11068167	0.26690	0.102516904	0.24223	0.13925685	0.33232	-4.675	0.76490	T	.	.	0.560	0.71888	A	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	3.413397	0.47364	22.4	0.99082381417027321	0.52002	0.75038	0.36724	D	AEFDBI	0.574197	0.57708	D	0.0924881785413865	0.46114	2.85677	0.134054895501286	0.46302	2.878447	0.99965944218501	0.41424	0.706548	0.73137	0	0.610034	0.51514	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.46	3.38	0.37806	0.604000	0.23862	1.767000	0.28601	-0.181000	0.10308	1.000000	0.71638	1.000000	0.68203	0.363000	0.25954	0.0:0.7573:0.0:0.2427	8.058	0.29780	872	0.31118	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	897.43	65	chr8	38457381	.	C	G	897.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.119;DP=378;ExcessHet=0;FS=2.408;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.81;ReadPosRankSum=0.715;SOR=1.169	GT:AD:DP:GQ:PL	0/1:33,32:65:99:909,0,990	9	0	1	0
chr8	60781346	60781346	C	T	exonic	CHD7	.	nonsynonymous SNV	CHD7:NM_017780:exon3:c.C2012T:p.P671L	CHARGE syndrome, Autosomal dominant;Hypogonadotropic hypogonadism 5 with or without anosmia	4	1517	1	0	0	1	0.000329489	.	.	.	305650	not_provided|not_specified|Inborn_genetic_diseases|Hypogonadotropic_hypogonadism_5_with_or_without_anosmia|CHARGE_syndrome	MedGen:C3661900|MedGen:CN169374|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0012880,MedGen:C3552553,OMIM:612370,Orphanet:478|MONDO:MONDO:0008965,MedGen:C0265354,OMIM:214800,Orphanet:138	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.432	0.361951656962	0.0002	0.00159744	0.0023	0.0003	0	0.0025	0	5.959e-05	0	0.0084	0.0007244	112	154602	rs370588681	0.0005	0.0005	0.0003	0.0006	0.0072	0.0004	0.0004	0.0067	0.0065	6.45e-05	0	0	5.35e-05	0	0.0004	4.028e-05	0.0007	0.0072	0.0003	0.0003	0.0002	0.0005	0.0085	0.0003	0.0002	0.0065	0.0057	0.0001	0	0	0	0.0002	0	0	2.941e-05	0.0005	0.0085	0.014	0.53172	D	0.269	0.22426	T	1.0	0.90584	D	0.995	0.83170	D	0.000338	0.45700	D	0.000000	1	0.81001	D	1.895	0.50365	L	-1.51	0.81399	D	-2.51	0.58248	D	0.587	0.60749	0.010	0.82463	D	0.571	0.84490	D	10	0.00880003	0.00199	T	0.361952	0.92533	D	0.432	0.73807	.	.	0.779885840833	0.77785	0.36719978655998264	0.36633	0.377942332906	0.39216	0.80823802948	0.83222	D	0.483945	0.81146	T	-0.20925	0.19485	T	-0.0705991	0.65584	T	0.135323494672775	0.15865	T	0.923208	0.72946	D	0.12694564	0.29719	0.13410908	0.32144	0.1261435	0.29554	0.15090853	0.35569	-8.843	0.67187	D	0.21350702324014936	0.28670	0.179	0.38941	B	.;.	.;.	4.924929	0.81151	27.5	0.99875854040267376	0.95244	0.97499	0.75145	D	AEFGBCI	0.747762	0.68972	D	0.638830089310579	0.75647	6.343209	0.664203081467443	0.79674	7.132268	0.99999999999999	0.74766	0.706298	0.61202	0	0.685571	0.66316	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.35	5.35	0.76297	6.804000	0.74974	4.030000	0.41330	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.0:1.0:0.0:0.0	19.430	0.94754	814	0.42100	.;.	.	.	.	.	.	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	0.000506	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.05	3004.43	190	chr8	60781346	.	C	T	3004.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.23;DP=533;ExcessHet=0;FS=1.137;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=15.81;ReadPosRankSum=0.442;SOR=0.726	GT:AD:DP:GQ:PL	0/1:82,108:190:99:3016,0,1895	9	0	1	0
chr8	60820073	60820073	A	G	exonic	CHD7	.	nonsynonymous SNV	CHD7:NM_017780:exon9:c.A2680G:p.T894A	CHARGE syndrome, Autosomal dominant;Hypogonadotropic hypogonadism 5 with or without anosmia	1	1515	6	0	0	6	0.00197628	.	.	.	196301	Hypogonadotropic_hypogonadism_5_with_or_without_anosmia|CHARGE_syndrome|not_specified|Inborn_genetic_diseases	MONDO:MONDO:0012880,MedGen:C3552553,OMIM:612370,Orphanet:478|MONDO:MONDO:0008965,MedGen:C0265354,OMIM:214800,Orphanet:138|MedGen:CN169374|MeSH:D030342,MedGen:C0950123	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.234	.	8.3e-05	0.00838658	0.0049	0.0003	0.0009	0.0008	0	6.086e-05	0.0029	0.0348	0.0034023	526	154602	rs377662366	0.0017	0.0017	0.0009	0.0025	0.0278	0.0017	0.0016	0.0269	0.0265	0.0001	0	0	5.049e-05	0	0.0009	1.713e-05	0.0019	0.0278	0.0011	0.0011	0.0006	0.0017	0.0332	0.0010	0.0009	0.0290	0.0274	0.0001	0	0	0	0.0004	0	0	0	0	0.0332	0.296	0.19710	T	0.506	0.21011	T	0.126	0.26920	B	0.145	0.33871	B	0.000012	0.62929	D	0.065065	0.999999	0.81001	D	2.565	0.75005	M	-0.58	0.71425	T	-1.4	0.34596	N	0.528	0.55713	-0.5359	0.67319	T	0.351	0.71454	T	10	0.00936836	0.00212	T	.	.	.	0.234	0.53644	.	.	0.847242333881	0.84578	0.4106744879165094	0.40983	0.15649385473	0.17663	0.561686456203	0.47505	T	0.332136	0.70214	T	-0.247891	0.14357	T	-0.108582	0.62724	T	0.0308159269228664	0.02116	T	0.708429	0.31914	T	0.1731881	0.38053	0.20150833	0.44134	0.19779801	0.41658	0.19274431	0.42805	-5.332	0.41530	T	0.2845382040254147	0.38034	0.077	0.08224	B	.;.	.;.	3.715343	0.53063	23.3	0.9831473506384748	0.40183	0.94366	0.60936	D	AEFDBI	0.307346	0.41424	N	0.133832347341191	0.48048	3.02207	0.291880644635864	0.55064	3.669918	0.994288977095518	0.33568	0.706298	0.61202	0	0.709663	0.81188	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	5.91	5.91	0.95240	5.026000	0.63880	9.358000	0.80353	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	1.0:0.0:0.0:0.0	16.351	0.83046	803	0.44167	Chromo domain|Chromo/chromo shadow domain|Chromo/chromo shadow domain|Chromo/chromo shadow domain;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.002518	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.015152	0.05	715.43	84	chr8	60820073	.	A	G	715.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.425;DP=457;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.52;ReadPosRankSum=0.844;SOR=0.693	GT:AD:DP:GQ:PL	0/1:53,31:84:99:727,0,1628	9	0	1	0
chr8	66135006	66135006	G	T	exonic	TRIM55	.	nonsynonymous SNV	TRIM55:NM_033058:exon3:c.G358T:p.D120Y,TRIM55:NM_184085:exon3:c.G358T:p.D120Y,TRIM55:NM_184086:exon3:c.G358T:p.D120Y,TRIM55:NM_184087:exon3:c.G358T:p.D120Y	.	427	1087	8	0	0	8	0.00366636	.	.	.	2230996	not_specified|TRIM55-related_disorder	MedGen:CN169374|.	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.176	0.035562490966	0.0012	0.000399361	0.0007	0	0.0002	0	0	0.0008	0	0.0014	0.0006468	100	154602	rs61744335	0.0008	0.0008	0.0008	0.0009	0.0019	0.0008	0.0008	0.0014	0.0014	0.0001	0.0002	0.0002	2.52e-05	0	0.0019	0.0009	0.0008	0.0017	0.0006	0.0006	0.0006	0.0006	0.0025	0.0005	0.0005	0.0014	0.0011	9.632e-05	0	0.0007	0.0003	0	0	0	0.0009	0.0005	0.0025	0.004	0.78490	D	0.002	0.79402	D	0.62	0.52359	P	0.551	0.59497	P	0.000077	0.52346	D	0.194486	0.999939	0.51612	D	1.7	0.43825	L	0.92	0.44461	T	-3.29	0.66206	D	0.576	0.60071	-0.7552	0.57662	T	0.206	0.56444	T	10	0.03018856	0.01145	T	0.035562	0.56429	D	0.176	0.44373	.	.	0.541512316009	0.53804	0.4956743390516269	0.49488	0.277218283334	0.30200	0.430978685617	0.29342	T	0.533712	0.83909	D	-0.3757	0.03315	T	-0.325674	0.41950	T	0.146655790138579	0.16834	T	0.860614	0.57621	D	0.6012477	0.72758	0.638803	0.78904	0.6012477	0.72759	0.638803	0.78904	-10.735	0.81394	D	.	.	0.153	0.44358	B	.;.;.;.	.;.;.;.	5.030070	0.83658	28.1	0.99332204342446062	0.59816	0.98099	0.79589	D	AEFDBI	0.810332	0.73360	D	0.374203796204005	0.60026	4.187437	0.432194381519009	0.63581	4.594785	0.99999997888494	0.74766	0.549168	0.22868	0	0.627178	0.54094	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	5.51	5.51	0.81769	5.182000	0.64897	11.930000	0.99908	0.674000	0.70861	1.000000	0.71638	1.000000	0.68203	0.471000	0.28363	0.0:0.0:1.0:0.0	19.41	0.94658	812	0.42537	.;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	1	0	0	0	0	0	0	0	0	0	0	0.003525	0.000000	0.001359	0.000000	0.000000	0.017241	0.012195	0.000000	0.05	1061.43	96	chr8	66135006	.	G	T	1061.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.444;DP=398;ExcessHet=0;FS=2.715;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.06;ReadPosRankSum=0.624;SOR=0.447	GT:AD:DP:GQ:PL	0/1:51,45:96:99:1073,0,1230	9	0	1	0
chr8	98222544	98222544	T	G	exonic	NIPAL2	.	nonsynonymous SNV	NIPAL2:NM_001321635:exon5:c.A493C:p.T165P,NIPAL2:NM_001321636:exon5:c.A493C:p.T165P,NIPAL2:NM_024759:exon5:c.A493C:p.T165P	.	430	1065	26	1	0	28	0.012975	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.420	.	0.0011	0.0375399	0.0193	0.0012	0.0202	0.2057	0	0.0013	0.0165	0.0132	0.017613	2723	154602	rs77774174	0.0072	0.0072	0.0072	0.0073	0.1687	0.0071	0.0071	0.1653	0.1639	0.0009	0.0173	0.0040	0.1687	5.616e-05	0.0062	0.0008	0.0141	0.0133	0.0094	0.0094	0.0078	0.0110	0.1924	0.0090	0.0088	0.1825	0.1785	0.0011	0	0.0116	0.0066	0.1924	0.0002	0.0068	0.0010	0.0137	0.0170	0.37	0.11586	T	0.186	0.29153	T	0.007	0.14184	B	0.007	0.12992	B	0.056835	0.22529	N	0.459579	0.795011	0.29181	N	0.915	0.23335	L	-2.69	0.90451	D	-1.12	0.28906	N	0.056	0.02759	-0.3131	0.74617	T	0.553	0.83644	D	10	0.0015859604	0.00018	T	.	.	.	0.420	0.72930	.	.	.	.	0.606460631242737	0.60577	0.198447039188	0.22225	0.412601977587	0.26817	T	0.388325	0.74903	T	-0.351197	0.04652	T	-0.133426	0.60682	T	0.00200710036842292	0.00021	T	0.521748	0.17009	T	0.20699102	0.42892	0.13713561	0.32787	0.20699102	0.42891	0.13713561	0.32786	-6.81	0.52633	T	.	.	0.075	0.10062	B	.;.	.;.	2.022096	0.25697	16.86	0.98626904810657023	0.43852	0.73112	0.35767	D	AEFBI	0.310864	0.41676	N	-0.280823762495684	0.29888	1.66157	-0.137897212033714	0.33877	1.942581	0.443869239457615	0.20476	0.638212	0.43195	0	0.670034	0.63936	0	0.618467	0.43123	0	0.655142	0.61905	0	.	.	5.71	3.3	0.36912	0.499000	0.22254	1.994000	0.30091	0.665000	0.62972	0.997000	0.40164	1.000000	0.68203	1.000000	0.97212	0.1491:0.0802:0.0:0.7707	5.746	0.17388	923	0.18507	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1937.43	158	chr8	98222544	.	T	G	1937.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.355;DP=480;ExcessHet=0;FS=0.589;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.26;ReadPosRankSum=0.566;SOR=0.779	GT:AD:DP:GQ:PL	0/1:75,83:158:99:1949,0,1948	9	0	1	0
chr8	104093580	104093580	G	A	exonic	RIMS2	.	nonsynonymous SNV	RIMS2:NM_001348498:exon19:c.G2954A:p.R985H,RIMS2:NM_001348501:exon19:c.G2807A:p.R936H,RIMS2:NM_001348503:exon19:c.G2954A:p.R985H,RIMS2:NM_001348509:exon21:c.G3050A:p.R1017H,RIMS2:NM_001348490:exon22:c.G3542A:p.R1181H,RIMS2:NM_001348489:exon23:c.G3629A:p.R1210H,RIMS2:NM_001348484:exon24:c.G3803A:p.R1268H	.	430	1091	1	0	0	1	0.000458085	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.265	0.0201993938315	0.0002	0.000199681	0.0002	0	0.0002	0	0	0.0003	0	0.0002	0.0001746	27	154602	rs371895487	8.164e-05	8.072e-05	6.475e-05	9.869e-05	0.0012	6.946e-05	6.494e-05	0.0006	0.0004	5.978e-05	0.0001	0	2.522e-05	0	0.0012	6.84e-05	0.0001	0.0002	7.229e-05	7.219e-05	0.0001	4.032e-05	0.0003	3.972e-05	3.128e-05	8.883e-05	5.39e-05	0	0	0.0003	0	0	0	0	8.828e-05	0.0005	0	0.002	0.91255	D	0.058	0.46182	T	0.999	0.77913	D	0.984	0.76113	D	.	.	.	.	0.999986	0.81001	D	.	.	.	2.03	0.20959	T	-3.01	0.66206	D	0.552	0.57775	-0.8643	0.50952	T	0.146	0.47111	T	8	0.23328885	0.40343	T	0.020199	0.42744	T	0.265	0.57870	.	.	0.0934897674506	0.08844	.	.	.	.	.	.	.	0.272553	0.66306	T	-0.223105	0.17570	T	-0.266103	0.48214	T	0.204199688621551	0.20646	T	0.978502	0.98679	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.388	0.58884	A	.;.	.;.	4.939642	0.81509	27.6	0.99929424954026513	0.99279	0.98804	0.87069	D	AEFDGI	0.909037	0.86514	D	0.685253716755579	0.78666	6.917754	0.689665251984421	0.81595	7.563299	0.976238060290304	0.29706	0.638212	0.43195	0	0.573888	0.26702	0	0.653264	0.51672	0	0.620846	0.47308	0	.	.	5.98	5.11	0.69188	7.761000	0.84104	7.617000	0.62147	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0677:0.0:0.9323:0.0	15.139	0.72273	873	0.30802	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1252.43	116	chr8	104093580	.	G	A	1252.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.28;DP=424;ExcessHet=0;FS=1.525;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.8;ReadPosRankSum=0.929;SOR=0.521	GT:AD:DP:GQ:PL	0/1:65,51:116:99:1264,0,1586	9	0	1	0
chr8	143718894	143718894	C	T	exonic	MAPK15	.	nonsynonymous SNV	MAPK15:NM_139021:exon5:c.C406T:p.R136W	.	390	1131	1	0	0	1	0.000441891	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.606	0.13173241118	.	0.000199681	5.694e-05	0	9.261e-05	0	0	3.409e-05	0	0.0002	5.17e-05	8	154602	rs577107750	3.849e-05	3.967e-05	3.28e-05	4.425e-05	0.0005	3.04e-05	2.732e-05	0.0001	8.72e-05	0	2.261e-05	0	0	0	0.0005	3.247e-05	1.665e-05	0.0002	1.313e-05	1.312e-05	2.57e-05	0	0.0002	2.18e-06	8.2e-07	.	.	0	0	0	0	0	0	0	1.47e-05	0	0.0002	0.0	0.91255	D	0.001	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000001	0.62929	D	0.055457	0.999958	0.52396	D	4.2	0.97819	H	-0.16	0.65378	T	-7.8	0.96269	D	0.961	0.97750	0.174	0.85471	D	0.560	0.83956	D	10	0.9788414	0.97779	D	0.131732	0.81400	D	0.606	0.84506	0.965	0.99654	0.851754483839	0.85032	0.888407289801753	0.88809	0.175079127471	0.19712	0.607364535332	0.53943	T	0.385978	0.74725	T	0.0884187	0.63010	D	0.168666	0.81332	D	0.994650423526764	0.86077	D	0.990301	0.97315	D	0.8590929	0.88016	0.65185213	0.79627	0.8590929	0.88017	0.65185213	0.79628	-12.863	0.88791	D	.	.	0.419	0.82761	A	.;.;.	.;.;.	4.988166	0.82676	27.8	0.9977685072650766	0.86433	0.79336	0.39294	D	ALL	.	.	.	0.406327468882624	0.61770	4.382664	0.16683405126499	0.48039	3.025491	0.999999999961958	0.74766	0.650006	0.45971	0	0.626922	0.53725	0	0.606735	0.37207	0	0.562822	0.20929	0	.	.	3.42	1.19	0.20120	1.085000	0.30452	.	.	0.527000	0.24520	1.000000	0.71638	1.000000	0.68203	0.269000	0.23743	0.4365:0.5635:0.0:0.0	9.685	0.39261	895	0.25842	Protein kinase domain|Mitogen-activated protein (MAP) kinase, conserved site|Protein kinase domain;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1	4256.12	135	chr8	143718894	.	C	T	4256.12	.	AC=2;AF=0.1;AN=20;DP=506;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.1;MQ=60;QD=31.53;SOR=0.973	GT:AD:DP:GQ:PL	1/1:0,135:135:99:4279,405,0	9	1	0	0
chr8	143918086	143918086	C	T	exonic	PLEC	.	nonsynonymous SNV	PLEC:NM_201378:exon32:c.G11693A:p.R3898Q,PLEC:NM_201379:exon32:c.G11669A:p.R3890Q,PLEC:NM_201380:exon32:c.G12146A:p.R4049Q,PLEC:NM_201381:exon32:c.G11639A:p.R3880Q,PLEC:NM_201382:exon32:c.G11735A:p.R3912Q,PLEC:NM_201383:exon32:c.G11747A:p.R3916Q,PLEC:NM_201384:exon32:c.G11735A:p.R3912Q,PLEC:NM_000445:exon33:c.G11816A:p.R3939Q	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	1511	10	1	0	12	0.00395517	.	.	.	371593	not_provided|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	MedGen:C3661900|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,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.089	0.0117139036962	.	.	0.0001	0	0	0	0	0.0001	0	0.0004	7.76e-05	12	154602	rs781960031	0.0001	0.0001	9.362e-05	0.0002	0.0026	0.0001	0.0001	0.0016	0.0013	3.009e-05	0	3.871e-05	0	2.173e-05	0.0026	8.314e-05	0.0002	0.0007	7.885e-05	7.879e-05	2.57e-05	0.0001	0.0002	4.497e-05	3.512e-05	3.762e-05	2.575e-05	9.648e-05	0	0	0	0	9.413e-05	0	8.821e-05	0	0.0002	0.88	0.02544	T	0.781	0.04571	T	0.0	0.02946	B	0.0	0.01387	B	0.542849	0.11517	N	0.759207	0.98992	0.24236	N	-1.78	0.00307	N	-0.36	0.68754	T	1.0	0.01664	N	0.059	0.14338	-1.0083	0.27448	T	0.080	0.31765	T	10	0.01863417	0.00407	T	0.011714	0.29605	T	0.089	0.25827	.	.	0.436886369515	0.43307	0.1431739061591585	0.14240	.	.	0.214695975184	0.01026	T	0.055403	0.29997	T	-0.498992	0.00579	T	-0.58463	0.14133	T	0.0217743504229817	0.00883	T	0.808919	0.49863	T	0.05155982	0.09486	0.0631005	0.12448	0.05155982	0.09486	0.0631005	0.12447	-4.077	0.24950	T	0.06864876792644567	0.02510	0.055	0.00390	B	.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.	1.788762	0.22740	15.74	0.92620615732865863	0.22089	0.19008	0.20491	N	AEFDGBCI	0.064356	0.12493	N	-0.877731031202601	0.11374	0.5485302	-0.636634121750031	0.18555	0.9917045	0.999662432073438	0.41534	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	4.63	2.25	0.27340	2.799000	0.47586	.	.	-0.192000	0.09343	0.998000	0.41325	0.999000	0.35428	0.979000	0.57723	0.0:0.1823:0.0:0.8177	7.843	0.28574	970	0.06235	.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002528	0.000000	0.005450	0.000000	0.000000	0.000000	0.000000	0.003788	0.1	6543.12	186	chr8	143918086	.	C	T	6543.12	.	AC=2;AF=0.1;AN=20;DP=877;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.1;MQ=60;QD=23.43;SOR=1.559	GT:AD:DP:GQ:PL	1/1:0,186:186:99:6566,558,0	9	1	0	0
chr8	143923604	143923604	G	A	exonic	PLEC	.	nonsynonymous SNV	PLEC:NM_201378:exon31:c.C6283T:p.R2095W,PLEC:NM_201379:exon31:c.C6259T:p.R2087W,PLEC:NM_201380:exon31:c.C6736T:p.R2246W,PLEC:NM_201381:exon31:c.C6229T:p.R2077W,PLEC:NM_201382:exon31:c.C6325T:p.R2109W,PLEC:NM_201383:exon31:c.C6337T:p.R2113W,PLEC:NM_201384:exon31:c.C6325T:p.R2109W,PLEC:NM_000445:exon32:c.C6406T:p.R2136W	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	.	.	.	.	.	.	.	.	.	.	1007809	not_provided|Epidermolysis_bullosa_simplex_5C,_with_pyloric_atresia|Epidermolysis_bullosa_simplex_5B,_with_muscular_dystrophy|Epidermolysis_bullosa_simplex,_Ogna_type|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2Q|Epidermolysis_bullosa_simplex_with_nail_dystrophy|Inborn_genetic_diseases	MedGen:C3661900|MONDO:MONDO:0012807,MedGen:C2677349,OMIM:612138,Orphanet:158684|MONDO:MONDO:0009181,MedGen:C2931072,OMIM:226670,Orphanet:257|MONDO:MONDO:0007555,MedGen:C0432317,OMIM:131950,Orphanet:79401|MONDO:MONDO:0013390,MedGen:C3150989,OMIM:613723,Orphanet:254361|MONDO:MONDO:0014661,MedGen:C4225309,OMIM:616487|MeSH:D030342,MedGen:C0950123	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.198	0.46762167759	.	.	4.521e-05	0	0	0	0	6.219e-05	0	7.072e-05	2.59e-05	4	154602	rs782507277	9.229e-05	9.373e-05	0.0001	7.252e-05	0.0004	7.936e-05	7.41e-05	9.583e-05	8.958e-05	0	0	0	2.538e-05	0	0.0004	0.0001	6.685e-05	2.334e-05	6.584e-06	6.571e-06	1.287e-05	0	1.472e-05	0	0	.	.	0	0	0	0	0	0	0	1.472e-05	0	0	0.02	0.50132	D	0.018	0.62352	D	0.956	0.54666	P	0.292	0.42281	B	0.283919	0.14893	U	0.593254	0.98993	0.24236	N	0	0.06538	N	-1.2	0.79176	T	-2.23	0.50337	N	0.202	0.27435	-0.7800	0.56303	T	0.252	0.62189	T	10	0.18511364	0.33917	T	0.467622	0.94624	D	0.198	0.48105	0.175	0.08135	0.469333501611	0.46562	0.32108391096166905	0.32021	.	.	0.402612149715	0.25433	T	0.246543	0.61603	T	-0.211686	0.19143	T	-0.354676	0.38668	T	0.0948226386341798	0.11777	T	0.869813	0.57430	D	0.118241616	0.27862	0.092371196	0.21765	0.118241616	0.27862	0.092371196	0.21765	-6.547	0.51690	T	0.13228371529694186	0.14090	0.096	0.18164	B	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	3.344251	0.46092	22.2	0.97388967177320007	0.33711	0.77380	0.38039	D	AEFDBCI	0.457114	0.50870	N	-0.196439455638397	0.33281	1.886455	-0.204237263402712	0.31384	1.775602	0.999999173048997	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.723109	0.80598	0	0.711	0.71501	0	.	.	4.76	3.85	0.43556	1.534000	0.35656	.	.	-0.120000	0.14102	0.510000	0.27033	0.865000	0.27529	0.948000	0.49324	0.0:0.0:0.8362:0.1638	13.436	0.60537	970	0.06235	.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000509	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.000000	0.1	1681.12	50	chr8	143923604	.	G	A	1681.12	.	AC=2;AF=0.1;AN=20;DP=417;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.1;MQ=60;QD=33.62;SOR=1.39	GT:AD:DP:GQ:PL	1/1:0,50:50:99:1704,150,0	9	1	0	0
chr8	144099773	144099773	C	T	exonic	SHARPIN	.	nonsynonymous SNV	SHARPIN:NM_030974:exon4:c.G589A:p.V197I	.	428	1083	10	1	0	12	0.00550964	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.006	0.00327893460144	0.0002	0.000998403	0.0015	0	0.0002	0	0	0.0002	0.0023	0.0096	0.0012031	186	154602	rs113734637	0.0006	0.0006	0.0004	0.0009	0.0089	0.0006	0.0006	0.0084	0.0082	5.974e-05	4.473e-05	3.826e-05	0	0	0.0024	0.0001	0.0004	0.0089	0.0004	0.0004	0.0004	0.0005	0.0106	0.0003	0.0003	0.0082	0.0074	2.407e-05	0	0	0	0	0	0	0.0002	0	0.0106	0.265	0.16305	T	0.591	0.08189	T	0.002	0.09854	B	0.001	0.04355	B	0.139022	0.02870	N	1.731550	1	0.08975	N	-0.185	0.04235	N	1.98	0.21865	T	-0.48	0.15379	N	0.147	0.14905	-1.0406	0.17132	T	0.030	0.12935	T	10	0.008582443	0.00194	T	0.003279	0.07268	T	0.006	0.00375	.	.	0.0482279557977	0.04254	0.127868874853879	0.12711	0.125980353182	0.14199	0.303288936615	0.10892	T	0.042826	0.26306	T	-0.73257	0.00023	T	-0.818524	0.01483	T	0.0274239196232161	0.01605	T	0.381062	0.09207	T	0.0242122	0.01230	0.026055746	0.00677	0.0242122	0.01230	0.026055746	0.00676	-5.293	0.39874	T	.	.	0.068	0.02702	B	.	.	-2.354174	0.00045	0.001	0.62339489665253112	0.06937	0.03800	0.09130	N	AEFBCI	0.042797	0.06686	N	-2.01380295624049	0.00198	0.008466632	-2.08082253520812	0.00205	0.009032203	0.999999994859592	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.643519	0.47002	0	0.711	0.71501	0	.	.	4.24	-8.48	0.00815	-2.672000	0.00915	-11.175000	0.00628	-2.537000	0.00251	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.546:0.2544:0.1996	9.288	0.36929	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	0.002518	0.000000	0.001359	0.000000	0.000000	0.000000	0.003049	0.011364	0.1	3632.12	109	chr8	144099773	.	C	T	3632.12	.	AC=2;AF=0.1;AN=20;DP=480;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.1;MQ=60;QD=33.32;SOR=1.743	GT:AD:DP:GQ:PL	1/1:0,109:109:99:3655,327,0	9	1	0	0
chr9	117371	117371	C	0	exonic	FOXD4	.	.	.	.	494	340	430	130	128	818	0.50365	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	1776.96	33	chr9	117371	.	C	*	1776.96	.	AC=5;AF=0.25;AN=20;BaseQRankSum=0.714;DP=213;ExcessHet=1.0516;FS=0;InbreedingCoeff=-0.0101;MLEAC=5;MLEAF=0.25;MQ=46.25;MQRankSum=-3.333;QD=10.97;ReadPosRankSum=-0.128;SOR=0.668	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:19,9:33:99:1|0:117366_C_CCG:308,0,828:117366	5	0	5	0
chr9	710915	710915	A	T	exonic	KANK1	.	nonsynonymous SNV	KANK1:NM_001354331:exon3:c.A149T:p.D50V,KANK1:NM_001354332:exon3:c.A149T:p.D50V,KANK1:NM_015158:exon3:c.A149T:p.D50V,KANK1:NM_001256877:exon4:c.A149T:p.D50V,KANK1:NM_001354334:exon4:c.A149T:p.D50V,KANK1:NM_001256876:exon7:c.A149T:p.D50V	Cerebral palsy, spastic quadriplegic, 2	1	1515	6	0	0	6	0.00197628	.	.	.	364228	not_specified|not_provided|Amyotrophic_lateral_sclerosis	MedGen:CN169374|MedGen:C3661900|Human_Phenotype_Ontology:HP:0007354,MONDO:MONDO:0004976,MedGen:C0002736,Orphanet:803	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.540	0.0529752443831	0.0075	0.00199681	0.0061	0.0018	0.0029	0	0.0041	0.0095	0.0033	0.0014	0.0059766	924	154602	rs61737971	0.0089	0.0089	0.0092	0.0085	0.0107	0.0087	0.0087	0.0105	0.0104	0.0013	0.0031	0.0028	2.519e-05	0.0036	0.0010	0.0107	0.0081	0.0019	0.0060	0.0060	0.0068	0.0051	0.0097	0.0056	0.0055	0.0091	0.0088	0.0019	0.0789	0.0030	0.0029	0	0.0024	0	0.0097	0.0033	0.0017	0.0	0.91255	D	0.002	0.79402	D	0.987	0.61912	D	0.891	0.63213	P	0.000069	0.52346	D	0.000000	1	0.81001	D	1.975	0.53506	M	0.43	0.56772	T	-6.6	0.92042	D	0.769	0.80669	-0.5011	0.68610	T	0.247	0.61589	T	10	0.012142837	0.00262	T	0.052975	0.65285	D	0.540	0.80782	.	.	0.708974317211	0.70643	0.336640057080387	0.33577	.	.	0.711781620979	0.68851	T	0.38746	0.74837	T	-0.12523	0.32271	T	0.0567348	0.74028	D	0.0271400286699636	0.01564	T	0.994801	0.98247	D	0.94224465	0.95476	0.94331384	0.97983	0.96596175	0.97874	0.9215795	0.96510	-13.555	0.91520	D	.	.	0.571	0.67664	P	.;.;.	.;.;.	4.832052	0.78802	27.0	0.99338654007958493	0.60091	0.97856	0.77642	D	AEFBCI	0.928155	0.91194	D	0.803717548085573	0.86338	8.853336	0.818634682209807	0.91056	10.69787	0.999999999999999	0.74766	0.732398	0.92422	0	0.59043	0.45803	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.95	5.95	0.96415	8.841000	0.91766	11.193000	0.88739	0.754000	0.88378	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	1.0:0.0:0.0:0.0	16.416	0.83575	729	0.54495	Kank N-terminal motif;Kank N-terminal motif;Kank N-terminal motif	.	.	.	.	.	Likely benign	0	0	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	0.002014	0.000000	0.000000	0.000000	0.000000	0.000000	0.006098	0.003788	0.05	1713.43	157	chr9	710915	.	A	T	1713.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.74;DP=536;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.91;ReadPosRankSum=-0.002;SOR=0.708	GT:AD:DP:GQ:PL	0/1:91,66:157:99:1725,0,2599	9	0	1	0
chr9	5522576	5522576	G	-	exonic	PDCD1LG2	.	frameshift deletion	PDCD1LG2:NM_025239:exon2:c.30delG:p.E11Nfs*7	.	431	1065	25	1	0	27	0.0125174	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0014	0.00199681	0.0020	0.0003	0.0006	0	0.0002	0.0026	0.0033	0.0033	0.0016817	260	154602	rs567501802	0.0016	0.0016	0.0014	0.0017	0.0116	0.0015	0.0015	0.0094	0.0086	0.0002	0.0010	0.0113	0	0.0002	0.0116	0.0013	0.0022	0.0037	0.0015	0.0015	0.0014	0.0015	0.0039	0.0013	0.0012	0.0026	0.0021	0.0002	0.0011	0.0014	0.0118	0	9.427e-05	0.0204	0.0017	0.0033	0.0039	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.012588	0.015152	0.010870	0.017544	0.000000	0.008621	0.012195	0.011364	0.1	3494.08	95	chr9	5522575	.	TG	T	3494.08	.	AC=2;AF=0.1;AN=20;DP=423;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.1;MQ=60;QD=36.86;SOR=0.848	GT:AD:DP:GQ:PL	1/1:0,95:95:99:3517,286,0	9	1	0	0
chr9	61191484	61191484	G	A	exonic	SPATA31A5;SPATA31A7	.	nonsynonymous SNV	SPATA31A5:NM_001113541:exon2:c.G221A:p.G74D,SPATA31A7:NM_015667:exon2:c.G221A:p.G74D	.	579	934	6	3	0	12	0.00638298	.	.	.	2342996	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.037	0.000771739095602	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs372452369	0.0005	0.0005	0.0005	0.0006	0.0045	0.0005	0.0005	0.0029	0.0024	0.0002	0.0006	0	0	0.0010	0.0045	0.0004	0.0006	0.0026	0.0004	0.0004	0.0005	0.0004	0.0007	0.0003	0.0003	0.0003	0.0003	0.0001	0	0.0005	0	0	0.0014	0.0045	0.0004	0.0006	0.0007	.	.	.	0.066	0.44501	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.156	0.16168	.	.	.	.	.	.	.	0.06826696	0.09631	T	.	.	.	.	.	.	.	.	.	0.1431986113949857	0.14242	.	.	.	.	.	0.101024	0.40738	T	.	.	.	.	.	.	.	.	.	0.447355	0.12562	T	.	.	.	.	.	.	.	.	-6.532	0.50533	T	.	.	0.272	0.50627	B	.	.	1.342261	0.17486	13.19	.	.	.	.	.	.	0.031771	0.03460	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.135000	0.10399	-8.085000	0.01031	0.308000	0.19071	0.000000	0.06391	0.000000	0.08366	0.178000	0.21234	.	.	.	.	.	Domain of unknown function DUF4599	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1	4466.14	225	chr9	61191484	.	G	A	4466.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-0.709;DP=737;ExcessHet=0.2348;FS=2.46;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=42.53;MQRankSum=-2.852;QD=9.99;ReadPosRankSum=0.687;SOR=0.878	GT:AD:DP:GQ:PL	0/1:133,92:225:99:2015,0,3319	8	0	2	0
chr9	86046538	86046538	C	G	exonic	GOLM1	.	nonsynonymous SNV	GOLM1:NM_016548:exon5:c.G399C:p.R133S,GOLM1:NM_177937:exon5:c.G399C:p.R133S	.	430	1064	28	0	0	28	0.012987	.	.	.	2826181	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	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	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.006042	0.000000	0.001359	0.005848	0.000000	0.008621	0.006098	0.022727	0.05	1391.43	121	chr9	86046538	.	C	G	1391.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.9;DP=443;ExcessHet=0;FS=3.283;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.5;ReadPosRankSum=-0.062;SOR=0.458	GT:AD:DP:GQ:PL	0/1:64,57:121:99:1403,0,1700	9	0	1	0
chr9	92080918	92080918	G	C	exonic	SPTLC1	.	nonsynonymous SNV	SPTLC1:NM_001281303:exon4:c.C306G:p.N102K,SPTLC1:NM_006415:exon4:c.C306G:p.N102K,SPTLC1:NM_178324:exon4:c.C306G:p.N102K	Neuropathy, hereditary sensory and autonomic, type IA, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.845	0.399896509883	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0011	0.0068	0.0012	0.0010	0.0013	0.0011	0.0010	0.0013	0.0012	0.0012	4.477e-05	0.0003	0.0002	1.873e-05	0.0009	0.0013	0.0009	0.0003	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.91255	D	0.005	0.92824	D	1.0	0.90584	D	0.997	0.86255	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.83	0.95627	H	-3.73	0.95458	D	-5.47	0.87143	D	0.946	0.96984	1.004	0.97255	D	0.941	0.98064	D	10	0.97626525	0.97408	D	0.399897	0.93374	D	0.845	0.95175	0.798	0.91802	0.945416172085	0.94484	0.9614716476571766	0.96133	1.13632118652	0.78799	0.737543225288	0.72611	T	0.97255	0.99710	D	0.219858	0.75763	D	0.0780339	0.75447	D	0.995089709758759	0.86803	D	0.978602	0.92442	D	0.9519136	0.96460	0.8880654	0.94130	0.9519136	0.96460	0.8880654	0.94130	-14.216	0.93737	D	0.860758186576928	0.92428	0.988	0.93037	P	.;.	.;.	4.020987	0.59386	24.1	0.9926344721683531	0.57289	0.83408	0.42527	D	AEFBI	0.256177	0.37516	N	0.211284656944223	0.51746	3.353416	0.0637648407406021	0.42742	2.59063	0.00398181740670549	0.10368	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.0	2.15	0.26590	1.717000	0.37612	4.300000	0.42938	-0.106000	0.15538	1.000000	0.71638	1.000000	0.68203	0.990000	0.65344	0.3508:0.0:0.6492:0.0	10.600	0.44552	892	0.26670	Aminotransferase, class I/classII;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	7760.04	386	chr9	92080918	.	G	C	7760.04	.	AC=10;AF=0.5;AN=20;BaseQRankSum=-3.684;DP=3889;ExcessHet=22.563;FS=438.653;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=60;MQRankSum=0;QD=2.21;ReadPosRankSum=1.08;SOR=14.782	GT:AD:DP:GQ:PL	0/1:217,153:386:99:871,0,3089	0	0	10	0
chr9	93308387	93308387	G	A	exonic	WNK2	.	nonsynonymous SNV	WNK2:NM_006648:exon27:c.G6319A:p.V2107I,WNK2:NM_001282394:exon28:c.G6430A:p.V2144I	.	422	1057	40	3	0	46	0.0212963	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.038	.	0.0052	0.00459265	0.0139	0.0154	0.0126	0	0.0018	0.0083	0.0177	0.0248	0.0041655	644	154602	rs61753907	0.0037	0.0037	0.0031	0.0043	0.0189	0.0036	0.0036	0.0181	0.0178	0.0093	0.0021	0.0040	0	0.0004	0.0181	0.0026	0.0041	0.0189	0.0051	0.0051	0.0049	0.0053	0.0159	0.0048	0.0047	0.0131	0.0120	0.0097	0.0044	0.0022	0.0052	0.0002	0.0004	0.0170	0.0032	0.0057	0.0159	0.225	0.18626	T	0.269	0.22426	T	0.68	0.41398	P	0.027	0.21085	B	0.001579	0.38612	N	0.176617	0.964912	0.81001	D	0.77	0.19370	N	-0.64	0.72125	T	-0.48	0.15782	N	0.066	0.08506	-0.9123	0.46569	T	0.142	0.46257	T	10	0.0041105747	0.00081	T	.	.	.	0.038	0.09825	.	.	0.284112513307	0.28011	0.07511304711046102	0.07447	0.111281827237	0.12551	0.329964995384	0.14929	T	0.042073	0.26065	T	-0.454325	0.01065	T	-0.410446	0.32173	T	0.00785497846881361	0.00092	T	0.776522	0.40920	T	0.051192675	0.09364	0.050252013	0.07850	0.047571544	0.08154	0.052882336	0.08800	-4.506	0.30967	T	.	.	0.080	0.07889	B	.;.	.;.	2.128572	0.27101	17.35	0.99328685768852176	0.59700	0.95908	0.66673	D	AEFBI	0.625359	0.60859	D	-0.0761293898034714	0.38442	2.251537	0.0413767641950699	0.41656	2.506365	0.99996638673327	0.48965	0.695654	0.57023	0	0.59043	0.45803	0	0.723109	0.80598	0	0.542086	0.14980	0	.	.	5.45	3.58	0.40133	3.571000	0.53586	2.039000	0.30291	0.676000	0.76740	1.000000	0.71638	0.969000	0.29651	0.988000	0.63387	0.1534:0.0:0.8466:0.0	11.070	0.47216	908	0.22609	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.011111	0.005102	0.004098	0.011765	0.000000	0.000000	0.015337	0.034091	0.1	3504.14	115	chr9	93308387	.	G	A	3504.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=2.16;DP=563;ExcessHet=0.2348;FS=0.447;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=13.12;ReadPosRankSum=0.26;SOR=0.651	GT:AD:DP:GQ:PL	0/1:46,69:115:99:1717,0,1061	8	0	2	0
chr9	95446932	95446932	G	A	exonic	PTCH1	.	nonsynonymous SNV	PTCH1:NM_001354918:exon22:c.C4168T:p.R1390W,PTCH1:NM_000264:exon23:c.C4324T:p.R1442W,PTCH1:NM_001083602:exon23:c.C4126T:p.R1376W,PTCH1:NM_001083603:exon23:c.C4321T:p.R1441W,PTCH1:NM_001083604:exon23:c.C3871T:p.R1291W,PTCH1:NM_001083605:exon23:c.C3871T:p.R1291W,PTCH1:NM_001083606:exon23:c.C3871T:p.R1291W,PTCH1:NM_001083607:exon23:c.C3871T:p.R1291W	Basal cell carcinoma, somatic;Basal cell nevus syndrome, Autosomal dominant;Holoprosencephaly 7, Autosomal dominant	0	1504	18	0	0	18	0.00594845	.	.	.	50105	Hereditary_cancer-predisposing_syndrome|Gorlin_syndrome|Holoprosencephaly_7|Basal_cell_nevus_syndrome_1|Basal_cell_carcinoma,_susceptibility_to,_1|not_provided|not_specified	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MONDO:MONDO:0007187,MedGen:C0004779,OMIM:PS109400,Orphanet:377|MONDO:MONDO:0012562,MedGen:C1835820,OMIM:610828,Orphanet:2162|MONDO:MONDO:0958174,MedGen:CN376810,OMIM:109400|MONDO:MONDO:0011556,MedGen:C2751544,OMIM:605462|MedGen:C3661900|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.230	0.0389509006162	0.0004	0.00119808	0.0014	0	0.0006	0	0	0.0007	0.0088	0.0065	0.0012872	199	154602	rs143464326	0.0008	0.0008	0.0006	0.0010	0.0056	0.0008	0.0007	0.0052	0.0050	0.0002	0.0009	0.0010	0	0	0.0037	0.0005	0.0013	0.0056	0.0006	0.0006	0.0006	0.0007	0.0048	0.0005	0.0005	0.0033	0.0028	7.219e-05	0	0.0012	0.0017	0	0	0.0034	0.0006	0.0019	0.0048	0.14	0.25979	T	0.02	0.60972	D	0.001	0.07471	B	0.0	0.01387	B	0.161594	0.17647	N	0.600569	0.986199	0.24640	N	0.345	0.11182	N	-2.69	0.90509	D	-0.53	0.16393	N	0.151	0.20129	-0.5709	0.65978	T	0.418	0.76388	T	10	0.0071581304	0.00163	T	0.038951	0.58523	D	0.230	0.53062	.	.	0.292942362817	0.28906	0.25299644627438844	0.25213	0.120472140638	0.13563	0.215458601713	0.01064	T	0.276521	0.64911	T	-0.386546	0.02831	T	-0.325966	0.41916	T	0.048989183820995	0.05322	T	0.823318	0.48387	T	0.0413131	0.06060	0.022873465	0.00305	0.03755971	0.04837	0.027967943	0.00991	-5.529	0.42139	T	.	.	0.088	0.17785	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	2.967292	0.39537	21.0	0.99753853378479207	0.84460	0.92946	0.56938	D	AEFDBI	0.645419	0.62132	D	-0.356132552988316	0.27047	1.480907	-0.167277447926688	0.32748	1.86626	0.999981718388619	0.51787	0.719381	0.83141	0	0.71359	0.82159	0	0.723133	0.82415	0	0.491896	0.07777	0	.	.	5.12	3.01	0.33872	1.383000	0.33992	4.631000	0.44116	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.657000	0.32885	0.0974:0.1286:0.6284:0.1455	5.573	0.16488	358	0.85037	.;.;.;.;.;.;.	.	.	.	.	.	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	0.006048	0.005051	0.008152	0.002924	0.000000	0.008621	0.006098	0.007576	0.05	1672.43	128	chr9	95446932	.	G	A	1672.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.13;DP=455;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.07;ReadPosRankSum=0.52;SOR=0.633	GT:AD:DP:GQ:PL	0/1:64,64:128:99:1684,0,1455	9	0	1	0
chr9	96818552	96818552	A	C	exonic	ZNF782	.	nonsynonymous SNV	ZNF782:NM_001346993:exon4:c.T1399G:p.S467A,ZNF782:NM_001346995:exon4:c.T1075G:p.S359A,ZNF782:NM_001346991:exon5:c.T1471G:p.S491A,ZNF782:NM_001001662:exon6:c.T1471G:p.S491A	.	373	1136	13	0	0	13	0.00568928	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.058	.	0.0007	0.033147	0.0180	0.0011	0.0012	0.1114	0.0416	0.0028	0.0231	0.0434	0.0161059	2490	154602	rs75989782	0.0076	0.0076	0.0067	0.0084	0.0955	0.0074	0.0074	0.0929	0.0919	0.0005	0.0004	0.0023	0.0955	0.0397	0.0029	0.0008	0.0106	0.0408	0.0092	0.0092	0.0063	0.0122	0.1030	0.0088	0.0086	0.0957	0.0929	0.0009	0	0.0005	0.0026	0.1030	0.0468	0	0.0013	0.0071	0.0439	0.032	0.44694	D	0.232	0.24987	T	0.868	0.47740	P	0.504	0.47761	P	0.014575	0.28493	N	0.000000	1	0.08975	N	0.81	0.20779	L	4.77	0.01563	T	-2.44	0.53420	N	0.109	0.13911	-1.0832	0.06739	T	0.004	0.01226	T	10	0.0018583536	0.00025	T	.	.	.	0.090	0.26093	.	.	.	.	0.015911493892009146	0.01547	0.228792034998	0.25434	0.652195334435	0.60297	T	0.00863	0.07910	T	-0.607898	0.00130	T	-0.549263	0.17397	T	0.0215779178595742	0.00862	T	0.643236	0.25495	T	0.16147868	0.36160	0.123323925	0.29739	0.16147868	0.36160	0.123323925	0.29738	-6.973	0.53836	T	.	.	0.373	0.58646	A	.;.	.;.	3.650464	0.51811	23.1	0.9938318436978878	0.61979	0.00007	0.00120	N	AEFGBHCI	0.037946	0.05297	N	-0.43745715746271	0.24166	1.303035	-0.511258146740924	0.21847	1.18381	0.00367639831337663	0.10231	0.660377	0.49826	0	0.633656	0.55848	0	0.696353	0.63694	0	0.491896	0.07777	0	.	.	3.33	2.17	0.26736	0.211000	0.17268	0.111000	0.14782	0.751000	0.87719	0.000000	0.06391	0.000000	0.08366	0.993000	0.69303	0.8852:0.0:0.1147:0.0	7.103	0.24529	757	0.50970	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.007049	0.000000	0.001359	0.002924	0.000000	0.000000	0.003049	0.022727	0.1	2365.14	106	chr9	96818552	.	A	C	2365.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=3.86;DP=505;ExcessHet=0.2348;FS=4.222;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=12.51;ReadPosRankSum=-0.824;SOR=0.92	GT:AD:DP:GQ:PL	0/1:52,54:106:99:1641,0,1530	8	0	2	0
chr9	97325167	97325167	G	A	exonic	CCDC180	.	nonsynonymous SNV	CCDC180:NM_020893:exon14:c.G1520A:p.R507Q,CCDC180:NM_001348010:exon15:c.G1511A:p.R504Q	.	365	1153	4	0	0	4	0.0017316	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.073	0.00584392736354	.	.	5.667e-05	0	0.0002	0	0	5.211e-05	0	8.538e-05	2.59e-05	4	154602	rs760401829	2.342e-05	2.326e-05	1.916e-05	2.773e-05	0.0012	1.686e-05	1.487e-05	0.0006	0.0004	0	0	3.866e-05	2.533e-05	0	0.0012	1.806e-05	1.665e-05	4.729e-05	1.314e-05	1.313e-05	1.284e-05	1.345e-05	2.412e-05	2.18e-06	8.2e-07	.	.	2.412e-05	0	0	0	0	0	0	0	0.0005	0	0.044	0.41096	D	0.022	0.57587	D	.	.	.	.	.	.	0.041827	0.23907	N	0.406153	1	0.08975	N	.	.	.	1.55	0.29866	T	-2.35	0.51968	N	0.133	0.12913	-1.0515	0.13981	T	0.062	0.25708	T	10	0.048663735	0.04349	T	0.005844	0.15191	T	0.090	0.26093	.	.	0.0954503805726	0.09146	0.1720690067638639	0.17126	.	.	0.225038275123	0.01622	T	.	.	.	-0.412581	0.01911	T	-0.615085	0.11575	T	0.0454328578288116	0.04681	T	0.716728	0.32905	T	0.07327144	0.16360	0.10305942	0.24718	0.07327144	0.16359	0.10305942	0.24718	-3.494	0.16348	T	.	.	0.083	0.09143	B	.	.	0.945943	0.13218	9.719	0.88490477724297989	0.18018	0.05699	0.11620	N	AEFDBI	0.080832	0.16349	N	-1.24107423394794	0.04418	0.1993712	-1.27943207980708	0.04709	0.2227641	0.973695750620764	0.29478	0.615465	0.37627	0	0.610034	0.51514	0	0.658983	0.55881	0	0.620846	0.47308	0	.	.	5.39	2.36	0.28258	0.980000	0.29111	2.191000	0.31208	-0.916000	0.02226	0.030000	0.20431	0.434000	0.24870	0.720000	0.34772	0.1027:0.0:0.7645:0.1328	8.976	0.35096	771	0.49057	Domain of unknown function DUF4455	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	361.43	41	chr9	97325167	.	G	A	361.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.83;DP=409;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.82;ReadPosRankSum=1.54;SOR=0.551	GT:AD:DP:GQ:PL	0/1:28,13:41:99:373,0,788	9	0	1	0
chr9	98134879	98134879	G	A	exonic	CORO2A	.	nonsynonymous SNV	CORO2A:NM_003389:exon4:c.C395T:p.A132V,CORO2A:NM_052820:exon4:c.C395T:p.A132V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.073	0.0147620516267	7.7e-05	0.000998403	0.0007	9.688e-05	0	0	0	4.534e-05	0.0011	0.0052	0.0006209	96	154602	rs368954246	0.0003	0.0003	0.0002	0.0005	0.0051	0.0003	0.0003	0.0047	0.0046	5.974e-05	0	0	5.038e-05	0	0	3.058e-05	0.0003	0.0051	0.0002	0.0002	0.0001	0.0003	0.0056	0.0001	0.0001	0.0039	0.0034	2.405e-05	0	0	0	0	0	0	1.47e-05	0	0.0056	0.05	0.39575	D	0.115	0.36630	T	0.001	0.07471	B	0.005	0.11217	B	0.254886	0.15433	N	0.680005	1	0.08975	N	0.685	0.16464	N	0.21	0.59983	T	-1.76	0.41618	N	0.196	0.21580	-0.9892	0.32803	T	0.124	0.42736	T	10	0.010442525	0.00232	T	0.014762	0.35085	T	0.073	0.21317	.	.	0.656729074501	0.65386	0.2443354433404145	0.24347	0.213114975612	0.23818	0.299555182457	0.10335	T	0.067008	0.33090	T	-0.575584	0.00205	T	-0.598059	0.12975	T	0.0276476229836695	0.01636	T	0.709329	0.31993	T	0.040612254	0.05830	0.08224487	0.18755	0.040612254	0.05830	0.08224487	0.18755	-5.275	0.39695	T	.	.	0.100	0.17060	B	.;.	.;.	1.616328	0.20649	14.85	0.99271898483468213	0.57593	0.25852	0.22822	N	AEFDBI	0.184226	0.31155	N	-0.882238270705902	0.11265	0.5427147	-0.850781983807419	0.13268	0.6873897	0.997013465602832	0.35200	0.706298	0.61202	0	0.633656	0.55848	0	0.709663	0.75317	0	0.567892	0.33627	0	.	.	5.37	3.47	0.38831	0.875000	0.27729	4.483000	0.43541	-0.127000	0.13314	0.000000	0.06391	0.927000	0.28453	0.040000	0.14268	0.0749:0.1338:0.7913:0.0	10.438	0.43634	803	0.44167	WD40-repeat-containing domain;WD40-repeat-containing domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.05	1771.43	135	chr9	98134879	.	G	A	1771.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.73;DP=456;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.12;ReadPosRankSum=-0.442;SOR=0.663	GT:AD:DP:GQ:PL	0/1:67,68:135:99:1783,0,1527	9	0	1	0
chr9	110137052	110137052	G	C	exonic	PALM2AKAP2	.	nonsynonymous SNV	PALM2AKAP2:NM_001004065:exon2:c.G1082C:p.R361T,PALM2AKAP2:NM_001136562:exon2:c.G815C:p.R272T,PALM2AKAP2:NM_001198656:exon2:c.G1082C:p.R361T,PALM2AKAP2:NM_007203:exon8:c.G1508C:p.R503T,PALM2AKAP2:NM_147150:exon8:c.G1508C:p.R503T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.118	0.0618637391386	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.424e-06	0.0004	4.089e-06	2.753e-06	3.602e-06	1e-06	7.3e-07	8.4e-07	5.7e-07	0	0	0	0	0	0	3.602e-06	1.657e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.68238	D	0.024	0.57104	D	0.949	0.65571	P	0.496	0.73820	P	0.002376	0.36688	N	0.265487	0.528475	0.31955	D	2.125	0.59049	M	0.88	0.46028	T	-1.48	0.56144	N	0.354	0.44857	-0.5485	0.66844	T	0.199	0.55442	T	10	0.25693607	0.43103	T	0.061864	0.68469	D	0.118	0.32913	0.194	0.10571	0.52468985305	0.52114	0.3132723605175298	0.31240	0.508839714498	0.49031	0.421055316925	0.27981	T	0.068456	0.33461	T	-0.00465218	0.51011	T	-0.244459	0.50362	T	0.82229095697403	0.47942	D	0.916508	0.71628	D	0.14253841	0.32799	0.105709225	0.25417	0.14253841	0.32798	0.105709225	0.25416	-6.736	0.54231	T	.	.	0.488	0.66996	A	.;.;.;.;.;.	.;.;.;.;.;.	3.479942	0.48587	22.6	0.93161729188529674	0.22814	0.93481	0.58334	D	AEFBCIJ	0.371545	0.45752	N	0.194427995474043	0.50931	3.278602	0.1677655242984	0.48093	3.029822	0.999992215884336	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.80507	0.99327	0	0.711	0.71501	0	.	.	5.63	4.73	0.59485	3.590000	0.53726	5.886000	0.50702	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.013000	0.09966	0.1723:0.0:0.8277:0.0	8.596	0.32880	923	0.18507	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2857	752.88	81	chr9	110137052	.	G	C	752.88	.	AC=4;AF=0.286;AN=14;BaseQRankSum=-2.8;DP=648;ExcessHet=1.5895;FS=269.449;InbreedingCoeff=-0.3571;MLEAC=4;MLEAF=0.286;MQ=60;MQRankSum=0;QD=2.59;ReadPosRankSum=0.646;SOR=8.581	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:59,22:81:99:0|1:110137052_G_C:394,0,1986:110137052	3	0	4	3
chr9	110137054	110137054	G	A	exonic	PALM2AKAP2	.	nonsynonymous SNV	PALM2AKAP2:NM_001004065:exon2:c.G1084A:p.A362T,PALM2AKAP2:NM_001136562:exon2:c.G817A:p.A273T,PALM2AKAP2:NM_001198656:exon2:c.G1084A:p.A362T,PALM2AKAP2:NM_007203:exon8:c.G1510A:p.A504T,PALM2AKAP2:NM_147150:exon8:c.G1510A:p.A504T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.058	0.0262409829576	.	.	1.678e-05	0	0.0002	0	0	0	0	0	1.29e-05	2	154602	rs777202417	6.173e-06	6.157e-06	8.191e-06	4.136e-06	0.0002	2.91e-06	2.1e-06	0.0001	7.819e-05	0	0.0002	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.015	0.52492	D	0.084	0.42976	T	0.873	0.70673	P	0.461	0.78396	P	0.000361	0.45440	D	0.192211	0.554502	0.32161	D	1.95	0.52479	M	0.82	0.48142	T	-0.38	0.20145	N	0.196	0.26596	-0.6067	0.64540	T	0.231	0.59732	T	10	0.15551329	0.29309	T	0.026241	0.49161	D	0.058	0.16647	0.201	0.11522	0.606491963429	0.60334	0.1585652680794885	0.19118	0.413830099629	0.42075	0.353128492832	0.18382	T	0.05449	0.29740	T	-0.32145	0.06780	T	-0.414803	0.31673	T	0.136570181284112	0.15976	T	0.914109	0.69400	D	0.07271283	0.16195	0.093768194	0.22163	0.07271283	0.16195	0.093768194	0.22162	-5.913	0.46163	T	.	.	0.123	0.36653	B	.;.;.;.;.;.	.;.;.;.;.;.	3.350669	0.46210	22.3	0.99576051814353395	0.72682	0.77969	0.38401	D	AEFBCIJ	0.274752	0.38987	N	0.18937847889013	0.50690	3.256583	0.211920241110118	0.50507	3.242088	0.999998236571977	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.80507	0.99327	0	0.711	0.71501	0	.	.	5.42	4.46	0.53567	3.170000	0.50516	7.765000	0.68366	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.024000	0.12247	0.0:0.3075:0.6925:0.0	11.752	0.51121	923	0.18507	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.25	693.98	81	chr9	110137054	.	G	A	693.98	.	AC=4;AF=0.25;AN=16;BaseQRankSum=-2.298;DP=682;ExcessHet=1.5895;FS=212.426;InbreedingCoeff=-0.3085;MLEAC=4;MLEAF=0.25;MQ=60;MQRankSum=0;QD=2.44;ReadPosRankSum=1.5;SOR=8.254	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:59,16:81:99:.:.:338,0,1987:.	4	0	4	2
chr9	110408009	110408009	C	T	exonic	SVEP1	.	nonsynonymous SNV	SVEP1:NM_153366:exon38:c.G7591A:p.E2531K	.	430	1088	4	0	0	4	0.00183486	.	.	.	2826305	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.095	.	0.0054	0.00299521	0.0060	0.0014	0.0036	0.0002	0.0166	0.0081	0.0102	0.0005	0.0058861	910	154602	rs143931457	0.0072	0.0072	0.0075	0.0069	0.0080	0.0071	0.0070	0.0079	0.0078	0.0010	0.0039	0.0018	5.039e-05	0.0158	0.0005	0.0080	0.0064	0.0008	0.0058	0.0058	0.0057	0.0060	0.0077	0.0055	0.0054	0.0072	0.0069	0.0014	0.0088	0.0063	0.0017	0.0002	0.0167	0	0.0077	0.0066	0.0004	.	.	.	0.007	0.69154	D	0.021	0.18474	B	0.005	0.11217	B	0.014048	0.28650	N	0.429928	0.999987	0.18198	N	0.46	0.12951	N	.	.	.	.	.	.	0.155	0.16028	-1.0193	0.23943	T	0.081	0.32060	T	10	0.007870764	0.00179	T	.	.	.	0.095	0.27398	.	.	0.043077524339	0.03247	0.42061192803488745	0.41977	0.10503442452	0.11875	0.247459113598	0.03504	T	0.018117	0.14664	T	-0.553316	0.00279	T	-0.558182	0.16548	T	0.000669186016256328	0.00006	T	0.864413	0.56163	D	0.07257252	0.16154	0.070565425	0.15008	0.07257252	0.16153	0.070565425	0.15008	-5.883	0.45290	T	.	.	0.074	0.05274	B	.;.	.;.	1.097008	0.14809	11.35	0.94100966962080834	0.24264	0.08721	0.14609	N	AEFBI	0.117369	0.22995	N	-1.03348902376888	0.07916	0.3693508	-1.03227015608243	0.09079	0.4497885	9.4934169310401E-5	0.04910	0.553676	0.25195	0	0.563428	0.19063	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	6.07	-0.482	0.11476	0.302000	0.18947	-0.297000	0.10145	0.597000	0.34315	0.022000	0.19841	0.000000	0.08366	0.602000	0.31438	0.0:0.4592:0.2109:0.3299	6.681	0.22306	968	0.07033	Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain;Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.001511	0.010101	0.001359	0.000000	0.050000	0.000000	0.003049	0.000000	0.05	1815.43	133	chr9	110408009	.	C	T	1815.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.37;DP=599;ExcessHet=0;FS=0.641;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.65;ReadPosRankSum=-1.664;SOR=0.614	GT:AD:DP:GQ:PL	0/1:68,65:133:99:1827,0,1824	9	0	1	0
chr9	112838537	112838537	C	T	exonic	SNX30	.	nonsynonymous SNV	SNX30:NM_001012994:exon6:c.C854T:p.S285F	.	432	1079	10	1	0	12	0.00552995	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.281	.	0.0006	0.00339457	0.0013	0	0.0004	0	0	0.0009	0	0.0055	0.0011643	180	154602	rs192545589	0.0008	0.0008	0.0006	0.0009	0.0051	0.0007	0.0007	0.0047	0.0046	0.0004	0.0006	0	0	0	0.0033	0.0005	0.0008	0.0051	0.0007	0.0007	0.0007	0.0007	0.0050	0.0006	0.0006	0.0034	0.0029	0.0003	0	0.0012	0	0	0	0.0102	0.0007	0.0019	0.0050	0.028	0.46129	D	0.062	0.45318	T	0.998	0.73220	D	0.977	0.73820	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.39	0.68882	M	1.73	0.26445	T	-2.26	0.50502	N	0.654	0.66443	-0.9849	0.33856	T	0.112	0.40052	T	10	0.009195298	0.00208	T	.	.	.	0.281	0.59861	.	.	0.176862962021	0.17281	0.6963577927378339	0.69576	1.03830873914	0.75688	0.68744379282	0.65339	T	0.208901	0.56896	T	-0.12288	0.32655	T	0.0523577	0.73739	D	0.127531483769417	0.15152	T	0.950605	0.81072	D	0.32067564	0.54697	0.23084652	0.48198	0.32067564	0.54697	0.23084652	0.48197	-8.073	0.61567	D	.	.	0.247	0.48124	B	.	.	4.572592	0.72161	25.8	0.99805050807870455	0.88906	0.98676	0.85452	D	AEFBI	0.894895	0.83436	D	0.618525323020078	0.74345	6.117228	0.573728917633802	0.73064	5.909455	0.999999999999996	0.74766	0.638212	0.43195	0	0.593476	0.48661	0	0.653264	0.51672	0	0.655142	0.61905	0	.	.	5.4	5.4	0.77957	7.568000	0.81546	7.626000	0.62520	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.586000	0.31041	0.0:1.0:0.0:0.0	19.183	0.93617	877	0.30165	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.004028	0.000000	0.000000	0.002924	0.050000	0.008621	0.018293	0.000000	0.05	1265.43	105	chr9	112838537	.	C	T	1265.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.16;DP=427;ExcessHet=0;FS=3.748;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.05;ReadPosRankSum=0.774;SOR=1.096	GT:AD:DP:GQ:PL	0/1:56,49:105:99:1277,0,1452	9	0	1	0
chr9	113389515	113389515	C	T	exonic	ALAD	.	nonsynonymous SNV	ALAD:NM_001317745:exon9:c.G700A:p.V234I,ALAD:NM_000031:exon10:c.G724A:p.V242I,ALAD:NM_001003945:exon10:c.G811A:p.V271I	Porphyria, acute hepatic, Autosomal recessive	0	1521	1	0	0	1	0.000328623	.	.	.	310706	Porphobilinogen_synthase_deficiency|not_provided	MONDO:MONDO:0013000,MedGen:C0268328,OMIM:612740,Orphanet:100924,Orphanet:95157|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.237	0.0136717011598	0.0002	.	0.0002	0	0.0002	0	0.0006	0.0003	0	0.0001	0.0001811	28	154602	rs200180791	0.0002	0.0002	0.0002	0.0002	0.0009	0.0002	0.0002	0.0003	0.0002	0	0.0002	0.0005	0	0.0012	0.0009	0.0001	0.0002	0.0003	0.0002	0.0002	0.0001	0.0002	0.0002	0.0001	8.717e-05	0.0001	8.875e-05	0	0	0.0001	0.0003	0	0.0005	0	0.0002	0.0005	0.0002	0.888	0.02495	T	0.931	0.02768	T	0.0	0.02946	B	0.002	0.06944	B	0.000000	0.84330	N	0.052312	0.999996	0.58761	D	0.825	0.20901	L	-2.17	0.86624	D	-0.44	0.14588	N	0.285	0.32259	-0.6680	0.61919	T	0.343	0.70835	T	10	0.052046597	0.05179	T	0.013672	0.33248	T	0.237	0.54074	.	.	0.72559337781	0.72316	0.5859050350014252	0.58520	0.309255796185	0.33236	0.293630957603	0.09454	T	0.274068	0.64655	T	-0.226531	0.17110	T	-0.278459	0.46962	T	0.0222578011453152	0.00937	T	0.910209	0.68156	D	0.24900769	0.47892	0.12935562	0.31105	0.24900769	0.47892	0.12935562	0.31105	-4.927	0.36037	T	0.1586560411585936	0.19238	0.106	0.19720	B	.	.	2.754453	0.36112	20.2	0.92322314182602738	0.21718	0.83331	0.42457	D	AEFDBI	0.241093	0.36277	N	-0.378152898416963	0.26248	1.43114	-0.154995982465555	0.33217	1.89778	0.999998931945203	0.74766	0.719381	0.83141	0	0.723133	0.82719	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.41	4.5	0.54382	4.731000	0.61716	4.074000	0.41688	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.8101:0.0:0.1899	9.031	0.35422	831	0.39019	.	.	.	.	.	.	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	0.001512	0.000000	0.001359	0.002924	0.000000	0.000000	0.000000	0.000000	0.05	1810.43	120	chr9	113389515	.	C	T	1810.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.25;DP=435;ExcessHet=0;FS=5.738;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=15.09;ReadPosRankSum=-0.805;SOR=1.196	GT:AD:DP:GQ:PL	0/1:56,64:120:99:1822,0,1543	9	0	1	0
chr9	114329923	114329923	C	T	exonic	ORM2	.	nonsynonymous SNV	ORM2:NM_000608:exon1:c.C19T:p.L7F	.	456	1055	10	1	0	12	0.00565504	.	.	.	2826335	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.054	.	0.0045	0.00419329	0.0106	0.0093	0.0128	0	0.0047	0.0137	0.0055	0.0028	0.0010373	27	26028	rs143336597	0.0030	0.0031	0.0031	0.0030	0.0100	0.0030	0.0029	0.0075	0.0067	0.0059	0.0049	0.0312	0	0.0019	0.0100	0.0024	0.0059	0.0014	0.0042	0.0043	0.0041	0.0043	0.0046	0.0038	0.0037	0.0039	0.0037	0.0046	0	0.0046	0.0292	0.0003	0.0027	0.0207	0.0030	0.0079	0.0011	0.103	0.30097	T	0.011	0.64786	D	1.0	0.90584	D	0.994	0.82059	D	0.007475	0.31378	N	0.203527	1	0.08975	N	2.14	0.59869	M	2.54	0.13916	T	-2.82	0.59545	D	0.33	0.37093	-0.9558	0.39952	T	0.166	0.50372	T	10	0.0045836866	0.00095	T	.	.	.	0.054	0.15330	.	.	0.31501682445	0.31101	0.3073696957865565	0.30649	1.63474285478	0.89300	.	.	.	0.090214	0.38538	T	-0.506014	0.00529	T	-0.498539	0.22499	T	0.0358126079362016	0.02948	T	0.660634	0.26999	T	0.100625806	0.23761	0.111952335	0.27009	0.100625806	0.23761	0.111952335	0.27008	-5.25	0.39445	T	.	.	0.13	0.27910	B	.	.	2.835497	0.37390	20.5	0.9739253131024681	0.33731	0.02043	0.06114	N	AEFDGBI	0.214987	0.34039	N	-0.153741131430986	0.35076	2.010137	-0.40007336570999	0.24996	1.371993	0.999993289566918	0.74766	0.497415	0.19182	0	0.550933	0.16991	0	0.491513	0.07944	0	0.542086	0.14980	0	.	.	2.77	1.87	0.24559	0.953000	0.28759	3.431000	0.38316	0.291000	0.18778	0.133000	0.23395	0.998000	0.33993	0.492000	0.28837	0.0:0.8448:0.0:0.1552	5.554	0.16392	620	0.66037	.	.	.	.	.	.	Likely benign	0	0	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	0.017610	0.010417	0.029086	0.008929	0.100000	0.008621	0.004000	0.004348	0.1	841.14	20	chr9	114329923	.	C	T	841.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=1.36;DP=231;ExcessHet=0.2348;FS=0;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=36.69;MQRankSum=0.565;QD=19.56;ReadPosRankSum=1.06;SOR=0.36	GT:AD:DP:GQ:PL	0/1:9,11:20:99:385,0,257	8	0	2	0
chr9	116698964	116698964	C	T	exonic	TRIM32	.	nonsynonymous SNV	TRIM32:NM_001099679:exon2:c.C1222T:p.R408C,TRIM32:NM_001379049:exon2:c.C1222T:p.R408C,TRIM32:NM_001379050:exon2:c.C1222T:p.R408C,TRIM32:NM_012210:exon2:c.C1222T:p.R408C,TRIM32:NM_001379048:exon3:c.C1222T:p.R408C	Muscular dystrophy, limb-girdle, type 2H, Autosomal recessive	0	1518	4	0	0	4	0.00131579	.	.	.	106460	not_specified|not_provided|Bardet-Biedl_syndrome|Sarcotubular_myopathy|Bardet-Biedl_syndrome_11	MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0015229,MedGen:C0752166,OMIM:PS209900,Orphanet:110|MONDO:MONDO:0009683,MedGen:C0270968,OMIM:254110,Orphanet:1878|MONDO:MONDO:0014439,MedGen:C1859569,OMIM:615988,Orphanet:110	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.519	0.15380590215	0.0015	0.000798722	0.0014	0.0004	0.0004	0.0002	0	0.0021	0	0.0015	0.0013842	214	154602	rs3747835	0.0017	0.0017	0.0018	0.0017	0.0019	0.0017	0.0016	0.0018	0.0018	0.0004	0.0006	0.0058	0.0007	3.747e-05	0.0002	0.0019	0.0015	0.0013	0.0011	0.0011	0.0012	0.0010	0.0018	0.0010	0.0010	0.0015	0.0014	0.0003	0	0.0009	0.0040	0.0002	0	0	0.0018	0.0024	0.0012	0.001	0.78490	D	0.0	0.92824	D	0.996	0.68779	D	0.703	0.54270	P	0.000000	0.84330	D	0.000000	1	0.81001	D	0.895	0.22405	L	-2.68	0.90391	D	-2.51	0.54546	D	0.721	0.72299	0.201	0.85918	D	0.634	0.87179	D	9	0.024597973	0.00682	T	0.153806	0.83502	D	0.519	0.79522	.	.	0.974609669287	0.97433	0.754966640632985	0.75443	0.91729132677	0.71283	0.771461009979	0.77643	T	0.553567	0.84927	D	0.00608991	0.52491	T	0.229187	0.84631	D	0.0537024562211095	0.06139	T	0.949105	0.80429	D	0.38659096	0.59789	0.26819614	0.52686	0.33348995	0.55755	0.22271717	0.47125	-3.536	0.16940	T	.	.	0.252	0.49383	B	.;.	.;.	5.217261	0.87555	29.3	0.99908777165075024	0.97875	0.97181	0.73167	D	AEFDBI	0.761866	0.69945	D	0.4590343015275	0.64716	4.732678	0.525650914663359	0.69722	5.401061	0.999999999494442	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.47	5.47	0.80345	4.476000	0.59950	7.705000	0.66497	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.1495:0.8505:0.0:0.0	14.202	0.65251	895	0.25842	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.001359	0.000000	0.000000	0.000000	0.003049	0.000000	0.1	4198.14	148	chr9	116698964	.	C	T	4198.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=4.49;DP=586;ExcessHet=0.2348;FS=3.151;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=14.28;ReadPosRankSum=-0.884;SOR=0.659	GT:AD:DP:GQ:PL	0/1:81,67:148:99:2018,0,2041	8	0	2	0
chr9	122724732	122724732	T	C	exonic	OR1L4	.	nonsynonymous SNV	OR1L4:NM_001005235:exon1:c.T743C:p.V248A	.	428	916	178	0	0	178	0.0885572	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.060	0.00143063714583	.	.	6.622e-05	0	0.0002	0.0001	0.0002	6.017e-05	0	0	3.84e-05	1	26028	rs748975619	0.0001	0.0021	7.836e-05	0.0002	0.0008	0.0001	0.0001	0.0003	0.0002	9.132e-05	0.0002	7.963e-05	0.0002	4.349e-05	0.0008	0.0002	0.0003	3.688e-05	0.0002	0.0017	0.0001	0.0002	0.0005	0.0001	8.825e-05	8.643e-05	4.843e-05	0.0001	0	0.0002	0	0.0002	0.0003	0	0.0001	0	0.0005	0.066	0.36113	T	0.063	0.45110	T	0.002	0.09854	B	0.012	0.16012	B	0.119040	0.19091	N	0.433255	1	0.08975	N	2.24	0.63355	M	8.47	0.00218	T	-3.71	0.70674	D	0.163	0.17140	-0.9813	0.34701	T	0.000	0.00152	T	10	0.08632538	0.14663	T	0.001431	0.02139	T	0.060	0.17295	.	.	0.380730819819	0.37686	0.050310918284802233	0.04974	0.137390497862	0.15494	0.204048782587	0.00584	T	0.018055	0.14619	T	-0.26113	0.12768	T	-0.612872	0.11753	T	0.0930222347378731	0.11572	T	0.328467	0.06836	T	0.12669528	0.29668	0.18975647	0.42339	0.12669528	0.29667	0.18975647	0.42339	-5.477	0.41653	T	.	.	0.162	0.35767	B	.	.	1.361823	0.17710	13.32	0.37116804741921844	0.02427	0.22928	0.21909	N	AEFGBI	0.092843	0.18792	N	-1.18873539693136	0.05170	0.2350358	-1.18788360110161	0.06111	0.2931782	0.00732444700759022	0.11439	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.23	3.09	0.34677	0.354000	0.19885	0.254000	0.16463	-1.735000	0.00709	0.000000	0.06391	0.000000	0.08366	0.027000	0.12703	0.0:0.1836:0.0:0.8164	7.537	0.26888	889	0.27310	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.066465	0.232323	0.014946	0.032164	0.150000	0.008621	0.100610	0.034091	0.5	6507.37	305	chr9	122724732	.	T	C	6507.37	.	AC=7;AF=0.5;AN=14;BaseQRankSum=7.17;DP=3293;ExcessHet=7.0302;FS=29.826;InbreedingCoeff=-0.7391;MLEAC=8;MLEAF=0.571;MQ=58.43;MQRankSum=-15.33;QD=2.86;ReadPosRankSum=-7.039;SOR=4.177	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:265,40:305:99:0|1:122724732_T_C:810,0,10872:122724732	0	0	7	3
chr9	122724738	122724738	T	C	exonic	OR1L4	.	nonsynonymous SNV	OR1L4:NM_001005235:exon1:c.T749C:p.V250A	.	428	1012	82	0	0	82	0.0389364	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.010	0.00138298223274	.	.	8.242e-06	0	0	0	0	1.499e-05	0	0	3.84e-05	1	26028	rs773750205	4.128e-06	0.0017	4.098e-06	4.158e-06	4.494e-05	1.49e-06	9.8e-07	7.45e-06	2.79e-06	2.995e-05	4.494e-05	0	2.533e-05	0	0	9.039e-07	1.665e-05	0	2.725e-05	0.0009	3.982e-05	1.4e-05	0.0002	8.37e-06	5.29e-06	.	.	2.5e-05	0	0	0	0	0.0002	0	0	0	0.0002	0.56	0.06381	T	0.334	0.18340	T	0.0	0.02946	B	0.003	0.08700	B	0.363490	0.04318	N	1.430160	1	0.08975	N	-0.355	0.03127	N	0.93	0.44065	T	0.28	0.04233	N	0.048	0.01999	-1.0082	0.27479	T	0.042	0.17994	T	10	0.027532607	0.00898	T	0.001383	0.02011	T	0.010	0.01040	.	.	0.146414634003	0.14194	0.029921180382566498	0.02941	0.133905216648	0.15082	0.228572815657	0.01864	T	0.008154	0.07505	T	-0.373075	0.03441	T	-0.773673	0.02649	T	0.0352781535904976	0.02857	T	0.0471953	0.00337	T	0.018524058	0.00374	0.028399432	0.01073	0.018524058	0.00374	0.028399432	0.01073	-3.488	0.16265	T	.	.	0.091	0.13127	B	.	.	-1.366501	0.00385	0.007	0.26517900806360473	0.01274	0.00656	0.02847	N	AEFGBI	0.051091	0.08994	N	-1.92157175688344	0.00310	0.01331125	-1.9879660246432	0.00325	0.01433726	0.679012312914238	0.22457	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.23	-7.85	0.01056	-3.495000	0.00503	-12.828000	0.00498	-1.735000	0.00709	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.2704:0.1842:0.5455	8.760	0.33827	889	0.27310	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.35	4321.95	292	chr9	122724738	.	T	C	4321.95	.	AC=7;AF=0.35;AN=20;BaseQRankSum=0.576;DP=2474;ExcessHet=7.0302;FS=34.706;InbreedingCoeff=-0.5385;MLEAC=7;MLEAF=0.35;MQ=58.47;MQRankSum=-16.72;QD=1.99;ReadPosRankSum=-5.814;SOR=6.802	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:260,32:292:99:0|1:122724732_T_C:531,0,10814:122724732	3	0	7	0
chr9	123381490	123381490	A	C	exonic	DENND1A	.	nonsynonymous SNV	DENND1A:NM_001352965:exon21:c.T3005G:p.L1002R,DENND1A:NM_020946:exon22:c.T2972G:p.L991R,DENND1A:NM_001352964:exon24:c.T3155G:p.L1052R	.	418	1095	8	1	0	10	0.00454545	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.035	0.00580822536864	.	.	0.0003	0	8.684e-05	0	0	6.105e-05	0	0.0017	0.0002135	33	154602	rs761567995	0.0001	0.0001	6.809e-05	0.0002	0.0016	0.0001	0.0001	0.0014	0.0013	0	0	0	0	0	0.0009	2.788e-05	9.936e-05	0.0016	6.58e-05	6.57e-05	1.287e-05	0.0001	0.0015	3.521e-05	2.619e-05	0.0007	0.0005	0	0	0	0	0	0	0	4.412e-05	0	0.0015	0.264	0.16358	T	0.611	0.07666	T	0.032	0.20242	B	0.003	0.08700	B	.	.	.	.	1	0.08975	N	0.69	0.16971	N	3.4	0.05642	T	-0.13	0.08971	N	0.167	0.17691	-1.0029	0.29080	T	0.023	0.09650	T	9	0.009923577	0.00222	T	0.005808	0.15101	T	0.035	0.08770	0.314	0.28935	0.0934897674506	0.08844	0.1352859953289202	0.13452	0.437939336455	0.43833	0.435364663601	0.29943	T	0.015486	0.12979	T	-0.607878	0.00130	T	-0.670579	0.07571	T	0.0343726402714769	0.02701	T	0.336666	0.07200	T	0.08632154	0.20061	0.07434975	0.16256	0.08632154	0.20060	0.07434975	0.16256	-3.857	0.21659	T	.	.	0.059	0.00730	B	.	.	1.566889	0.20063	14.57	0.7530031508259345	0.11022	0.50479	0.28672	D	AEFBI	0.161629	0.28771	N	-1.0805233358307	0.07003	0.3240166	-1.07647465512032	0.08165	0.4002653	0.987480657549588	0.31276	0.634777	0.41761	0	0.643519	0.57511	0	0.643519	0.47002	0	0.567892	0.33627	0	.	.	1.48	0.358	0.15319	-0.559000	0.06062	5.605000	0.49037	-0.534000	0.04951	0.958000	0.33488	1.000000	0.68203	0.112000	0.18829	0.2498:0.0:0.7502:0.0	3.898	0.08652	379	0.83778	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.000000	0.000000	0.002924	0.000000	0.000000	0.003067	0.000000	0.1	1320.14	69	chr9	123381490	.	A	C	1320.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=1.34;DP=436;ExcessHet=0.2348;FS=1.317;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=8.36;ReadPosRankSum=-0.257;SOR=0.823	GT:AD:DP:GQ:PL	0/1:40,29:69:99:634,0,1007	8	0	2	0
chr9	127444742	127444742	T	A	exonic	ZNF79	.	nonsynonymous SNV	ZNF79:NM_001286698:exon3:c.T640A:p.F214I,ZNF79:NM_001286696:exon5:c.T970A:p.F324I,ZNF79:NM_007135:exon5:c.T1042A:p.F348I,ZNF79:NM_001286697:exon6:c.T970A:p.F324I,ZNF79:NM_001322260:exon6:c.T970A:p.F324I	.	.	.	.	.	.	.	.	.	.	.	3361618	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.112	0.00436180461204	.	.	8.238e-06	0	0	0	0	0	0	6.056e-05	6.5e-06	1	154602	rs754073409	4.126e-06	4.104e-06	2.738e-06	5.528e-06	0.0003	1.48e-06	9.8e-07	6.129e-05	2.535e-05	0	0	0	0	0	0.0003	0	0	4.651e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009	0.57480	D	0.003	0.76473	D	0.901	0.49677	P	0.444	0.45865	B	.	.	.	.	1	0.08975	N	0.835	0.21042	L	3.45	0.05311	T	0.94	0.01839	N	0.204	0.27673	-1.0165	0.24852	T	0.019	0.07800	T	9	0.15938735	0.29949	T	0.004362	0.10624	T	0.112	0.31546	0.596	0.72617	0.456552270603	0.45279	0.08447706135378688	0.08381	0.265924816147	0.29141	0.699160516262	0.67023	T	0.085621	0.48543	T	-0.302496	0.08425	T	-0.490763	0.23311	T	0.273229039458972	0.23885	T	0.318868	0.07261	T	0.1619092	0.36232	0.14931688	0.35260	0.1619092	0.36231	0.14931688	0.35259	-5.576	0.42573	T	.	.	0.416	0.74447	A	.;.;.;.	.;.;.;.	2.189736	0.27918	17.62	0.97531610462372154	0.34464	0.15474	0.18929	N	AEFDGBHCI	0.066728	0.13081	N	-0.205402128803622	0.32910	1.861362	-0.285917248472244	0.28561	1.59347	0.999999987039505	0.74766	0.631515	0.41029	0	0.697927	0.68747	0	0.697927	0.64325	0	0.636168	0.56350	0	.	.	3.59	3.59	0.40253	0.057000	0.14157	-0.319000	0.09979	-0.189000	0.09497	0.007000	0.17678	0.001000	0.17328	0.756000	0.36000	0.0:0.0:0.0:1.0	10.195	0.42225	510	0.75209	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	2404.43	160	chr9	127444742	.	T	A	2404.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.164;DP=518;ExcessHet=0;FS=1.974;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=15.03;ReadPosRankSum=1.02;SOR=0.866	GT:AD:DP:GQ:PL	0/1:72,88:160:99:2416,0,1853	9	0	1	0
chr9	127707148	127707148	G	C	exonic	CFAP157	.	nonsynonymous SNV	CFAP157:NM_001012502:exon1:c.G117C:p.E39D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.048	0.00511713534183	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.054e-06	4.926e-05	2.725e-06	1.376e-06	2.699e-06	5.5e-07	1.5e-07	7.2e-07	2e-07	0	0	0	0	0	0	2.699e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.099	0.30656	T	0.133	0.34359	T	0.58	0.38813	P	0.16	0.34752	B	0.011693	0.29437	N	0.400143	0.937019	0.26902	N	.	.	.	0.85	0.47130	T	-2.13	0.48354	N	0.253	0.28616	-1.0776	0.07821	T	0.089	0.34271	T	10	0.15869087	0.29835	T	0.005117	0.13001	T	0.048	0.13305	0.117	0.02508	0.511220899679	0.50763	0.22389107574446282	0.22304	0.665481085244	0.59146	.	.	.	0.083009	0.36958	T	-0.233602	0.16174	T	-0.573329	0.15145	T	0.768105268478394	0.44326	D	0.642936	0.25461	T	0.07620602	0.17219	0.08653153	0.20054	0.07620602	0.17219	0.08653153	0.20054	-5.906	0.47647	T	.	.	0.170	0.37312	B	.;.	.;.	1.611943	0.20598	14.82	0.99153328533649743	0.53875	0.62448	0.31784	D	AEFDGBCI	0.199371	0.32618	N	-0.115357649790928	0.36724	2.126585	-0.0733379664216469	0.36497	2.124728	0.999992507834303	0.74766	0.497415	0.19182	0	0.59043	0.45803	0	0.587068	0.30358	0	0.645665	0.59343	0	.	.	5.46	2.23	0.27189	0.091000	0.14885	0.384000	0.17813	0.649000	0.52879	0.993000	0.37899	0.958000	0.29226	0.883000	0.42306	0.3494:0.0:0.4698:0.1808	3.228	0.06340	268	0.89479	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.0625	389.9	74	chr9	127707148	.	G	C	389.9	.	AC=1;AF=0.063;AN=16;BaseQRankSum=-0.688;DP=599;ExcessHet=3.2736;FS=188.579;InbreedingCoeff=-0.4349;MLEAC=1;MLEAF=0.063;MQ=60;MQRankSum=0;QD=1.27;ReadPosRankSum=0.654;SOR=9.308	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:62,12:74:68:.:.:68,0,1805:.	7	0	1	2
chr9	128706759	128706759	A	C	exonic	PKN3	.	nonsynonymous SNV	PKN3:NM_001317926:exon4:c.A458C:p.Q153P,PKN3:NM_013355:exon4:c.A458C:p.Q153P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.113	0.0135725579065	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.003	0.76473	D	0.891	0.49025	P	0.673	0.53214	P	.	.	.	.	0.792295	0.34402	D	0.895	0.22405	L	2.19	0.18724	T	-2.41	0.52938	N	0.419	0.45898	-1.0159	0.25045	T	0.055	0.23300	T	9	0.3619907	0.52805	T	0.013573	0.33074	T	0.113	0.31778	0.585	0.71245	0.17258766438	0.16869	0.5614202734360078	0.56069	0.967287473485	0.73234	0.447571367025	0.31612	T	0.272011	0.64438	T	-0.135355	0.30633	T	-0.432204	0.29685	T	0.77026107640442	0.44455	D	0.808919	0.45897	T	0.4750703	0.65600	0.6576855	0.79952	0.4750703	0.65601	0.6576855	0.79953	-14.723	0.95170	D	.	.	0.536	0.66164	A	.	.	4.217201	0.63755	24.6	0.99428881297948146	0.64179	0.97385	0.74413	D	AEFGBI	0.555453	0.56589	D	0.211196379061069	0.51741	3.353014	0.231786074489862	0.51619	3.342927	0.999990038459523	0.74766	0.706548	0.73137	0	0.550933	0.16991	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	5.08	3.94	0.44807	2.249000	0.42821	7.970000	0.76035	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.8235:0.0:0.1765:0.0	7.207	0.25089	0	0.99858	HR1 rho-binding domain|HR1 rho-binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	891.43	68	chr9	128706759	.	A	C	891.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.69;DP=395;ExcessHet=0;FS=2.067;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.11;ReadPosRankSum=-0.73;SOR=0.461	GT:AD:DP:GQ:PL	0/1:33,35:68:99:903,0,987	9	0	1	0
chr9	132329364	132329364	C	T	exonic	SETX	.	nonsynonymous SNV	SETX:NM_001351527:exon10:c.G2234A:p.R745H,SETX:NM_001351528:exon10:c.G2234A:p.R745H,SETX:NM_015046:exon10:c.G2234A:p.R745H	Amyotrophic lateral sclerosis 4, juvenile, Autosomal dominant;Spinocerebellar ataxia, autosomal recessive 1, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	1356065	Amyotrophic_lateral_sclerosis_type_4|Spinocerebellar_ataxia,_autosomal_recessive,_with_axonal_neuropathy_2	MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433,Orphanet:357043|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002,Orphanet:64753	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.269	0.0216368309663	.	.	8.254e-06	0	0	0.0001	0	0	0	0	1.29e-05	2	154602	rs373933140	3.763e-05	3.762e-05	4.357e-05	3.163e-05	0.0002	2.96e-05	2.656e-05	2.999e-05	2.671e-05	0	2.236e-05	0	2.521e-05	0	0.0002	3.957e-05	8.28e-05	3.478e-05	3.942e-05	3.94e-05	5.138e-05	2.69e-05	0.0001	1.715e-05	1.129e-05	2.263e-05	9.08e-06	2.412e-05	0	0.0001	0	0	0	0	4.41e-05	0	0	0.423	0.09746	T	0.213	0.26467	T	0.0	0.02946	B	0.0	0.01387	B	0.149569	0.02951	N	1.760590	1	0.08975	N	0.145	0.08828	N	-1.99	0.85320	D	-0.11	0.08653	N	0.025	0.00485	-0.7226	0.59334	T	0.332	0.69968	T	10	0.030637711	0.01191	T	0.021637	0.44435	T	0.269	0.58381	0.247	0.18293	0.394685799254	0.39082	0.11804369620844588	0.11731	0.0914562817227	0.10332	0.164467632771	0.00017	T	0.112235	0.42834	T	-0.344387	0.05090	T	-0.563336	0.16064	T	0.0213500101359103	0.00838	T	0.513749	0.16498	T	0.0127901705	0.00042	0.022401212	0.00266	0.0127901705	0.00041	0.022401212	0.00266	-3.294	0.13660	T	0.07805018918061088	0.03714	0.064	0.01738	B	.	.	-1.193187	0.00537	0.013	0.59337275011323287	0.06201	0.01022	0.03842	N	AEFGBI	0.020608	0.00831	N	-2.05542382644573	0.00160	0.00686285	-2.15917940043796	0.00138	0.006070109	0.999999999999959	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.608884	0.39905	0	0.714379	0.83352	0	.	.	5.48	-11.0	0.00133	-3.893000	0.00383	-4.997000	0.01893	-0.834000	0.02848	0.000000	0.06391	0.000000	0.08366	0.073000	0.16832	0.0802:0.623:0.0812:0.2156	11.824	0.51530	952	0.10565	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.05	2468.43	183	chr9	132329364	.	C	T	2468.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=3.98;DP=596;ExcessHet=0;FS=1.144;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.49;ReadPosRankSum=-0.18;SOR=0.609	GT:AD:DP:GQ:PL	0/1:96,87:183:99:2480,0,2346	9	0	1	0
chr9	133208141	133208141	T	A	exonic	OBP2B	.	nonsynonymous SNV	OBP2B:NM_001288987:exon3:c.A269T:p.Y90F,OBP2B:NM_014581:exon3:c.A269T:p.Y90F	.	654	836	30	2	0	34	0.0199297	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.069	.	.	.	0.0079	0.0137	0.0018	0.0039	0.0052	0.0106	0.0048	0.0011	3.84e-05	1	26028	rs1413608059	0.0005	0.0049	0.0004	0.0007	0.0009	0.0005	0.0005	0.0007	0.0007	0.0003	0.0007	0.0004	0.0007	0.0023	0.0002	0.0004	0.0007	0.0009	0.0004	0.0040	0.0004	0.0003	0.0009	0.0003	0.0003	0.0003	0.0003	0.0002	0.0012	0.0002	0	0.0004	0.0004	0	0.0005	0.0010	0.0009	0.297	0.14645	T	0.337	0.18178	T	0.393	0.34680	B	0.257	0.39298	B	0.026576	0.25897	N	0.188123	1	0.19238	N	1.055	0.26876	L	3.25	0.06762	T	-2.4	0.52776	N	0.141	0.20262	-0.9592	0.39330	T	0.012	0.04795	T	10	0.0057539046	0.00128	T	.	.	.	0.069	0.20116	.	.	0.0297737177859	0.01360	0.3454499937520817	0.34458	0.164113916074	0.18517	0.433351457119	0.29667	T	0.033824	0.23072	T	-0.290422	0.09595	T	-0.654947	0.08611	T	0.0220651653645309	0.00916	T	0.417158	0.10968	T	0.052634977	0.09844	0.045453	0.06119	0.052634977	0.09844	0.045453	0.06119	-5.794	0.44522	T	.	.	0.071	0.11124	B	.;.;.	.;.;.	-0.024567	0.04115	0.974	0.14583370763224782	0.00327	0.00218	0.01233	N	AEFDBI	0.012910	0.00155	N	-1.56437998921638	0.01452	0.06336967	-1.64152865485638	0.01420	0.06421677	0.00212614337787241	0.09174	0.487112	0.14033	0	0.573888	0.26702	0	0.578056	0.29568	0	0.542086	0.14980	0	.	.	1.91	0.679	0.17141	-0.405000	0.07258	-1.122000	0.06265	-1.135000	0.01450	0.001000	0.13787	0.000000	0.08366	0.002000	0.04165	0.2549:0.0:0.0:0.7451	5.651	0.16894	.	.	Lipocalin/cytosolic fatty-acid binding domain;Lipocalin/cytosolic fatty-acid binding domain;Lipocalin/cytosolic fatty-acid binding domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.051309	0.073864	0.030055	0.074850	0.100000	0.025862	0.051020	0.035714	0.2	829.58	36	chr9	133208141	.	T	A	829.58	.	AC=4;AF=0.2;AN=20;BaseQRankSum=2.06;DP=164;ExcessHet=1.5895;FS=5.808;InbreedingCoeff=-0.2503;MLEAC=4;MLEAF=0.2;MQ=55.82;MQRankSum=-3.866;QD=10.24;ReadPosRankSum=-0.126;SOR=1.56	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:27,9:36:99:0|1:133208118_G_C:236,0,982:133208118	6	0	4	0
chr9	135624268	135624268	A	C	exonic	GLT6D1	.	nonsynonymous SNV	GLT6D1:NM_182974:exon5:c.T660G:p.F220L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.035	0.000856876467216	.	.	1.703e-05	0	0	0	0	3.033e-05	0	0	1.29e-05	2	154602	rs763189230	8.264e-06	8.209e-06	5.477e-06	1.108e-05	3.552e-05	4.41e-06	3.48e-06	9.44e-06	4.62e-06	0	0	0	0	0	0	8.125e-06	0	3.552e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.281	0.15458	T	0.556	0.09236	T	0.001	0.07471	B	0.002	0.06944	B	0.836991	0.09063	N	0.922716	1	0.08975	N	1.045	0.26769	L	5.14	0.01205	T	-3.11	0.63669	D	0.04	0.01347	-0.8957	0.48418	T	0.004	0.01125	T	10	0.054039538	0.05692	T	8.57E-4	0.00755	T	0.035	0.08770	0.364	0.37036	0.0138822411134	0.00435	0.1829482754712565	0.18213	0.0140985462636	0.01346	0.331468462944	0.15157	T	0.00626	0.05696	T	-0.405235	0.02138	T	-0.804382	0.01795	T	0.0440099333804128	0.04423	T	0.246275	0.08910	T	0.10230946	0.24175	0.07455424	0.16323	0.10230946	0.24175	0.07455424	0.16323	-5.314	0.40081	T	.	.	0.586	0.70483	P	.;.	.;.	-0.950709	0.00844	0.029	0.34846150142163823	0.02154	0.01158	0.04178	N	AEFBI	0.040018	0.05893	N	-1.69074948065325	0.00875	0.03787052	-1.78243921559529	0.00817	0.03647983	0.00140535360189533	0.08512	0.615465	0.37627	0	0.573888	0.26702	0	0.658983	0.55881	0	0.542086	0.14980	0	.	.	3.49	-3.61	0.04264	-2.977000	0.00729	-12.515000	0.00519	-0.819000	0.02980	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.397:0.1435:0.1805:0.279	0.316	0.00275	840	0.37365	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	1704.43	165	chr9	135624268	.	A	C	1704.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.468;DP=671;ExcessHet=0;FS=2.786;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.33;ReadPosRankSum=2.88;SOR=0.946	GT:AD:DP:GQ:PL	0/1:97,68:165:99:1716,0,2715	9	0	1	0
chr9	136050044	136050044	C	T	exonic	NACC2	.	nonsynonymous SNV	NACC2:NM_144653:exon2:c.G478A:p.V160I	.	406	1110	6	0	0	6	0.00269542	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.033	0.0912310308267	.	.	.	.	.	.	.	.	.	.	.	.	.	rs918743680	0.0005	0.0006	0.0003	0.0007	0.0034	0.0005	0.0005	0.0030	0.0029	5.901e-05	0.0002	0	2.841e-05	0	0.0029	0.0002	0.0006	0.0034	0.0002	0.0002	0.0002	0.0002	0.0019	0.0001	9.709e-05	0.0010	0.0007	4.814e-05	0	6.541e-05	0	0	0	0	0.0002	0.0005	0.0019	0.041	0.41915	D	0.25	0.23707	T	0.273	0.31830	B	0.028	0.21332	B	0.004648	0.33526	N	0.285394	0.97686	0.25348	N	1.39	0.34934	L	-0.08	0.63911	T	-0.31	0.12099	N	0.072	0.04547	-1.0460	0.15534	T	0.090	0.34463	T	10	0.004942864	0.00106	T	0.091231	0.75667	D	0.033	0.08068	0.235	0.16457	0.524271286562	0.52073	0.22756173120962314	0.22671	0.548523735457	0.51787	0.656147360802	0.60859	T	0.189622	0.54391	T	-0.233462	0.16194	T	-0.573129	0.15164	T	0.0586161162775522	0.06948	T	0.70443	0.31478	T	0.04898303	0.08626	0.0478032	0.06966	0.04898303	0.08626	0.0478032	0.06965	-4.583	0.31957	T	.	.	0.094	0.14523	B	.;.	.;.	1.725435	0.21960	15.42	0.98562073668677874	0.42986	0.90389	0.51526	D	AEFGI	0.198319	0.32518	N	-0.696403685386147	0.16123	0.8187327	-0.646885206560569	0.18295	0.9767142	0.996096849552183	0.34520	0.638212	0.43195	0	0.670034	0.63936	0	0.618467	0.43123	0	0.668105	0.65232	0	.	.	4.45	2.53	0.29594	2.094000	0.41344	2.117000	0.30696	0.579000	0.29447	0.958000	0.33488	0.022000	0.20871	0.140000	0.19946	0.0:0.762:0.1526:0.0854	8.684	0.33389	923	0.18507	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1103.43	103	chr9	136050044	.	C	T	1103.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.61;DP=420;ExcessHet=0;FS=0.736;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.71;ReadPosRankSum=0.73;SOR=0.612	GT:AD:DP:GQ:PL	0/1:54,49:103:99:1115,0,1148	9	0	1	0
chr9	137612914	137612914	T	C	exonic	ARRDC1	.	nonsynonymous SNV	ARRDC1:NM_001317968:exon2:c.T137C:p.I46T,ARRDC1:NM_152285:exon2:c.T137C:p.I46T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.080	0.00400828739768	.	0.000998403	0.0003	0	0	0.0029	0	1.53e-05	0	0.0005	0.0002523	39	154602	rs201141848	0.0002	0.0002	0.0002	0.0002	0.0056	0.0002	0.0001	0.0050	0.0047	0	0	0	0.0056	0	0.0005	0	0.0001	0.0002	0.0001	0.0001	0.0002	0.0001	0.0037	9.141e-05	7.697e-05	0.0024	0.0020	0	0	0	0	0.0037	0	0	0	0	0.0004	0.851	0.05992	T	0.328	0.19073	T	0.0	0.07471	B	0.002	0.08700	B	0.602448	0.10945	N	0.839505	1	0.08975	N	0.345	0.11182	N	2.69	0.12268	T	0.43	0.03297	N	0.195	0.21449	-0.9407	0.42505	T	0.020	0.08220	T	10	0.011376113	0.00249	T	0.004008	0.09525	T	0.080	0.23350	.	.	0.0401082797425	0.02173	0.2752863528249749	0.27441	0.161159105999	0.18189	0.71418762207	0.69200	T	0.00131	0.00791	T	-0.535111	0.00358	T	-0.543847	0.17920	T	0.00973091924782161	0.00127	T	0.441756	0.12241	T	0.038147442	0.05028	0.043319732	0.05363	0.038147442	0.05028	0.043319732	0.05362	-1.685	0.02190	T	.	.	0.049	0.00125	B	.;.;.	.;.;.	0.432841	0.08032	4.752	0.65369661025204706	0.07753	0.03287	0.08335	N	AEFDGBHCI	0.039061	0.05619	N	-1.2948253019868	0.03737	0.1674747	-1.29849996674138	0.04451	0.2099898	0.999999685474874	0.74766	0.645754	0.44609	0	0.643519	0.57511	0	0.696144	0.63334	0	0.526803	0.08958	0	.	.	5.29	-1.18	0.09122	0.255000	0.18102	-0.379000	0.09554	-0.186000	0.09761	0.000000	0.06391	0.000000	0.08366	0.435000	0.27561	0.0:0.3104:0.0:0.6896	11.287	0.48460	982	0.03397	Arrestin-like, N-terminal|Arrestin C-terminal-like domain;Arrestin-like, N-terminal;Arrestin-like, 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	0.000504	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.000000	0.05	1573.43	112	chr9	137612914	.	T	C	1573.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.246;DP=443;ExcessHet=0;FS=1.614;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.05;ReadPosRankSum=1.08;SOR=0.893	GT:AD:DP:GQ:PL	0/1:51,61:112:99:1585,0,1315	9	0	1	0
chr9	137614709	137614714	GAGGCT	-	exonic	ARRDC1	.	nonframeshift deletion	ARRDC1:NM_001317968:exon7:c.946_951del:p.E320_A321del,ARRDC1:NM_152285:exon7:c.946_951del:p.E320_A321del	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000998403	0.0003	0	0	0.0028	0	1.565e-05	0	0.0006	0.0002587	40	154602	rs566052691	0.0002	0.0002	0.0002	0.0002	0.0056	0.0002	0.0002	0.0050	0.0048	9.007e-05	4.531e-05	0	0.0056	0	0	2.52e-05	0.0002	0.0003	0.0001	0.0002	0.0002	0.0001	0.0035	9.742e-05	8.257e-05	0.0023	0.0019	0	0	6.532e-05	0	0.0035	0	0	1.471e-05	0	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	1783.39	100	chr9	137614708	.	GGAGGCT	G	1783.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.558;DP=568;ExcessHet=0;FS=1.595;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=17.83;ReadPosRankSum=0.476;SOR=0.869	GT:AD:DP:GQ:PL	0/1:51,49:100:99:1795,0,1926	9	0	1	0
chr10	1015826	1015826	C	T	exonic	GTPBP4	.	nonsynonymous SNV	GTPBP4:NM_012341:exon16:c.C1682T:p.P561L	.	421	1097	4	0	0	4	0.00181984	.	.	.	2353426	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.138	0.0131435652875	0.0002	.	0.0002	0.0002	0.0002	0	0	0.0002	0	0.0003	0.0001294	20	154602	rs373695235	0.0001	0.0001	0.0001	0.0002	0.0035	0.0001	0.0001	0.0023	0.0019	0	8.945e-05	0	7.557e-05	0	0.0035	9.894e-05	0.0002	0.0006	7.876e-05	7.873e-05	5.138e-05	0.0001	0.0002	4.492e-05	3.509e-05	2.846e-05	1.858e-05	7.215e-05	0	6.532e-05	0	0	0	0.0034	7.349e-05	0.0005	0.0002	0.074	0.34621	T	0.156	0.31833	T	0.452	0.36118	B	0.042	0.24114	B	0.000000	0.84330	N	0.046897	1	0.81001	D	2.15	0.60148	M	1.55	0.29866	T	-1.11	0.28703	N	0.423	0.46274	-1.0202	0.23649	T	0.088	0.34133	T	10	0.13093024	0.24918	T	0.013144	0.32307	T	0.138	0.37187	.	.	0.228066490088	0.22430	0.1900917241784084	0.18927	0.123419248041	0.13898	0.418734014034	0.27662	T	0.01102	0.09882	T	-0.398545	0.02366	T	-0.494103	0.22961	T	0.0334397679290094	0.02544	T	0.707329	0.31793	T	0.04756582	0.08151	0.052231915	0.08564	0.04756582	0.08151	0.052231915	0.08564	-6.707	0.51863	T	.	.	0.084	0.09530	B	.	.	2.350645	0.30139	18.34	0.84277044549312841	0.15198	0.94330	0.60822	D	AEFDGBHCI	0.377260	0.46110	N	-0.277093401162859	0.30034	1.671035	-0.285157823244283	0.28586	1.595073	0.999997957565734	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.67	4.77	0.60425	2.996000	0.49137	1.729000	0.28315	-1.013000	0.01759	0.965000	0.33920	0.026000	0.21063	0.014000	0.10232	0.0:0.9299:0.0:0.0701	14.591	0.67958	666	0.61362	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.05	1481.43	142	chr10	1015826	.	C	T	1481.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.79;DP=463;ExcessHet=0;FS=0.633;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.43;ReadPosRankSum=0.325;SOR=0.586	GT:AD:DP:GQ:PL	0/1:83,59:142:99:1493,0,1958	9	0	1	0
chr10	3138965	3138965	G	C	exonic	PITRM1	.	nonsynonymous SNV	PITRM1:NM_001242309:exon22:c.C2562G:p.I854M,PITRM1:NM_001347725:exon23:c.C2658G:p.I886M,PITRM1:NM_001347726:exon23:c.C2043G:p.I681M,PITRM1:NM_001347730:exon23:c.C2634G:p.I878M,PITRM1:NM_001242307:exon25:c.C2859G:p.I953M,PITRM1:NM_001347727:exon25:c.C2241G:p.I747M,PITRM1:NM_001347728:exon25:c.C1551G:p.I517M,PITRM1:NM_001347729:exon25:c.C2832G:p.I944M,PITRM1:NM_014889:exon25:c.C2856G:p.I952M	.	436	1051	34	1	0	36	0.0168382	.	.	.	701321	PITRM1-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.283	.	0.0072	0.00698882	0.0076	0.0018	0.0042	0.0092	0.0005	0.0076	0.0167	0.0148	0.0076066	1176	154602	rs2279219	0.0085	0.0085	0.0082	0.0088	0.0239	0.0084	0.0083	0.0207	0.0194	0.0017	0.0039	0.0188	0.0107	0.0012	0.0239	0.0083	0.0096	0.0149	0.0055	0.0055	0.0059	0.0051	0.0133	0.0052	0.0051	0.0106	0.0097	0.0013	0	0.0037	0.0153	0.0106	0.0011	0.0340	0.0076	0.0066	0.0133	0.002	0.78490	D	0.006	0.76473	D	0.996	0.68779	D	0.986	0.76916	D	0.000000	0.84330	D	0.048486	0.982543	0.39905	D	3.15	0.88382	M	2.78	0.11298	T	-2.06	0.50502	N	0.733	0.73375	-0.9028	0.47694	T	0.030	0.13023	T	10	0.0075713396	0.00172	T	.	.	.	0.283	0.60100	.	.	0.292787519742	0.28880	0.7876777912847144	0.78719	0.339281541877	0.35884	0.36477342248	0.20078	T	0.03237	0.22457	T	-0.406594	0.02095	T	-0.344497	0.39833	T	0.0919633649975755	0.11448	T	0.928507	0.76748	D	0.5679132	0.70946	0.32878715	0.58764	0.5679132	0.70947	0.32878715	0.58764	-8.724	0.65903	D	.	.	0.099	0.43815	B	.;.;.;.;.	.;.;.;.;.	-0.572070	0.01650	0.116	0.99290081191233992	0.58219	0.46315	0.27733	N	AEFGBCI	0.232223	0.35533	N	-0.67583953480814	0.16711	0.8538296	-0.985766165152834	0.10104	0.5068272	0.99999997108151	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.54	-10.1	0.00330	-1.340000	0.02756	-3.074000	0.03084	-0.158000	0.11653	0.001000	0.13787	0.000000	0.08366	0.004000	0.06068	0.2486:0.1044:0.4286:0.2184	3.335	0.06681	970	0.06235	Peptidase M16, C-terminal;.;.;Peptidase M16, C-terminal;Peptidase M16, C-terminal	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.05	1989.43	157	chr10	3138965	.	G	C	1989.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.37;DP=547;ExcessHet=0;FS=0.592;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.67;ReadPosRankSum=-0.037;SOR=0.608	GT:AD:DP:GQ:PL	0/1:76,81:157:99:2001,0,1771	9	0	1	0
chr10	5749089	5749089	G	A	exonic	TASOR2	.	nonsynonymous SNV	TASOR2:NM_001321785:exon15:c.G5425A:p.E1809K,TASOR2:NM_017782:exon15:c.G5668A:p.E1890K,TASOR2:NM_001321783:exon16:c.G5668A:p.E1890K,TASOR2:NM_001321784:exon16:c.G5668A:p.E1890K	.	434	1074	12	2	0	16	0.00739372	.	.	.	3324496	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.133	0.00456914830371	0.0011	0.000399361	0.0013	0.0004	0.0022	0	0.0002	0.0016	0.0067	0.0012	0.0012872	199	154602	rs200299323	0.0012	0.0012	0.0011	0.0012	0.0146	0.0011	0.0011	0.0121	0.0111	0.0016	0.0024	0.0047	0	3.745e-05	0.0146	0.0010	0.0025	0.0007	0.0014	0.0014	0.0014	0.0014	0.0054	0.0013	0.0012	0.0044	0.0041	0.0003	0	0.0054	0.0043	0	0	0.0136	0.0013	0.0047	0.0004	0.051	0.39334	T	0.015	0.61642	D	0.998	0.73220	D	0.738	0.55619	P	0.004304	0.33881	N	0.209711	0.999999	0.08975	N	1.9	0.50570	L	3.35	0.05989	T	-1.5	0.36586	N	0.093	0.07262	-1.1272	0.01921	T	0.042	0.17994	T	10	0.0059395432	0.00133	T	0.004569	0.11283	T	0.133	0.36157	.	.	0.151262610727	0.14761	0.5197509960107242	0.51898	0.0874988507201	0.09869	0.339342087507	0.16339	T	0.010961	0.09835	T	-0.524814	0.00412	T	-0.532183	0.19068	T	0.0347989773814077	0.02775	T	0.672333	0.28093	T	0.0847563	0.19631	0.09168107	0.21567	0.0847563	0.19631	0.09168107	0.21566	-3.826	0.21193	T	.	.	0.106	0.31279	B	.;.	.;.	2.124790	0.27051	17.33	0.9901659741988954	0.50484	0.75437	0.36935	D	AEFDBCI	0.076605	0.15415	N	0.252431113406874	0.53758	3.543461	0.158344710920385	0.47585	2.986609	0.999999999055616	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.643519	0.47002	0	0.714379	0.83352	0	.	.	5.82	5.82	0.92740	2.956000	0.48822	3.863000	0.40147	0.676000	0.76740	0.829000	0.30118	1.000000	0.68203	0.007000	0.07825	0.0:0.0:1.0:0.0	16.820	0.85607	543	0.72751	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.024169	0.030303	0.032609	0.020468	0.000000	0.008621	0.012195	0.015152	0.05	2303.43	167	chr10	5749089	.	G	A	2303.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.322;DP=553;ExcessHet=0;FS=1.926;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.79;ReadPosRankSum=0.866;SOR=0.854	GT:AD:DP:GQ:PL	0/1:81,86:167:99:2315,0,2157	9	0	1	0
chr10	13656924	13656926	CGC	-	exonic	FRMD4A	.	nonframeshift deletion	FRMD4A:NM_001318338:exon11:c.1736_1738del:p.G579del,FRMD4A:NM_001318336:exon21:c.2711_2713del:p.G904del,FRMD4A:NM_001318337:exon21:c.2762_2764del:p.G921del,FRMD4A:NM_018027:exon22:c.2663_2665del:p.G888del	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0080	.	0.0002	0	0	0	0.0011	0.0002	0	0.0005	3.84e-05	1	26028	rs748566561	7.433e-05	0.0006	6.482e-05	8.401e-05	0.0002	6.207e-05	5.787e-05	8.247e-05	5.69e-05	0.0001	0.0002	0.0003	9.854e-05	0.0001	0	5.654e-05	0.0001	0.0001	6.626e-06	5.911e-05	0	1.356e-05	0.0002	0	0	.	.	0	0	0	0	0.0002	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	5172.09	89	chr10	13656923	.	TCGC	T	5172.09	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.049;DP=532;ExcessHet=0.2348;FS=0;InbreedingCoeff=-0.1111;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=22.2;ReadPosRankSum=1.74;SOR=0.68	GT:AD:DP:GQ:PL	0/1:41,48:89:99:1873,0,1552	9	0	1	0
chr10	18506518	18506518	G	C	exonic	CACNB2	.	nonsynonymous SNV	CACNB2:NM_000724:exon5:c.G476C:p.S159T,CACNB2:NM_001330060:exon5:c.G476C:p.S159T,CACNB2:NM_201570:exon5:c.G497C:p.S166T,CACNB2:NM_201590:exon5:c.G479C:p.S160T,CACNB2:NM_001167945:exon6:c.G557C:p.S186T,CACNB2:NM_201571:exon6:c.G557C:p.S186T,CACNB2:NM_201572:exon6:c.G557C:p.S186T,CACNB2:NM_201593:exon6:c.G641C:p.S214T,CACNB2:NM_201596:exon6:c.G641C:p.S214T,CACNB2:NM_201597:exon6:c.G641C:p.S214T	Brugada syndrome 4	3	1504	14	1	0	16	0.00529101	.	.	.	171120	Early_repolarization_associated_with_ventricular_fibrillation|not_specified|Brugada_syndrome_4|Cardiovascular_phenotype|not_provided|Brugada_syndrome|Long_QT_syndrome	MONDO:MONDO:0013318,MedGen:C3150852,OMIM:613601|MedGen:CN169374|MONDO:MONDO:0012743,MedGen:C2678477,OMIM:611876,Orphanet:130|MedGen:CN230736|MedGen:C3661900|MONDO:MONDO:0015263,MedGen:C1142166,OMIM:PS601144,Orphanet:130|MONDO:MONDO:0002442,MeSH:D008133,MedGen:C0023976	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.364	0.0586144080112	0.0008	0.00179712	0.0010	0.0004	0.0003	0	0.0006	0.0013	0	0.0014	0.0009508	147	154602	rs149253719	0.0011	0.0011	0.0011	0.0011	0.0043	0.0010	0.0010	0.0030	0.0026	0.0002	0.0007	0.0002	0	0.0005	0.0043	0.0012	0.0010	0.0011	0.0009	0.0009	0.0009	0.0009	0.0025	0.0008	0.0007	0.0014	0.0011	0.0003	0	0.0016	0.0003	0	0.0008	0	0.0011	0	0.0025	0.01	0.56456	D	0.14	0.37310	T	0.001	0.29111	B	0.005	0.23121	B	0.000000	0.84330	D	0.036871	0.999943	0.81001	D	0.69	0.16971	N	-1.67	0.82806	D	-1.02	0.32991	N	0.385	0.71587	-0.1607	0.78653	T	0.389	0.74386	T	10	0.01582411	0.00332	T	0.058614	0.67379	D	0.364	0.68407	.	.	0.844391916565	0.84290	0.28888373454370075	0.28801	0.29405852682	0.31822	0.541484892368	0.44656	T	0.122134	0.44559	T	-0.105444	0.35522	T	0.0403822	0.72953	D	0.0248195910384765	0.01249	T	0.80342	0.48145	T	0.3400598	0.56285	0.35522628	0.61054	0.3202374	0.54660	0.42763343	0.66502	-4.12	0.30876	T	0.18382160391911886	0.23814	0.089	0.12084	B	.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.	3.142977	0.42517	21.6	0.97678366813792883	0.35300	0.93233	0.57673	D	AEFBHCI	0.850907	0.76775	D	0.191224740741525	0.50776	3.264613	0.392406405374736	0.61097	4.305077	0.606758711883347	0.21771	0.554377	0.28877	0	0.547309	0.14657	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	5.9	5.9	0.94952	7.026000	0.76192	8.623000	0.77819	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:1.0:0.0	20.263	0.98454	957	0.09725	.;.;.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.005035	0.005051	0.008152	0.000000	0.000000	0.008621	0.003049	0.000000	0.1	1498.14	85	chr10	18506518	.	G	C	1498.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=0.734;DP=420;ExcessHet=0.2348;FS=2.151;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=10.78;ReadPosRankSum=0.057;SOR=0.898	GT:AD:DP:GQ:PL	0/1:41,44:85:99:1072,0,1075	8	0	2	0
chr10	24543238	24543238	C	G	exonic	KIAA1217	.	nonsynonymous SNV	KIAA1217:NM_019590:exon19:c.C3968G:p.T1323S	.	416	1097	6	3	0	12	0.00543971	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.019	0.0091393955991	.	0.00119808	0.0005	0	0	0	0.0002	6.039e-05	0	0.0036	0.0004722	73	154602	rs199890594	0.0003	0.0003	0.0001	0.0004	0.0038	0.0002	0.0002	0.0034	0.0033	2.987e-05	0	0	0	0	0.0007	2.788e-05	0.0003	0.0038	0.0002	0.0002	0.0001	0.0002	0.0031	0.0001	8.74e-05	0.0019	0.0016	0	0	0.0001	0	0	0	0	8.827e-05	0	0.0031	0.24	0.17701	T	1.0	0.02348	T	0.006	0.17573	B	0.003	0.16460	B	0.073897	0.02281	N	1.807420	1	0.08975	N	1.905	0.50856	L	2.01	0.28836	T	-0.05	0.10656	N	0.048	0.01999	-1.0775	0.07841	T	0.057	0.24018	T	10	0.004551202	0.00094	T	0.009139	0.24036	T	0.019	0.03383	0.262	0.20631	0.190952846119	0.18690	0.25949108646383606	0.25863	0.109122026774	0.12303	0.221402317286	0.01392	T	0.075827	0.35272	T	-0.660599	0.00062	T	-0.724732	0.04570	T	0.0675783231854439	0.08308	T	0.364964	0.08484	T	0.037136853	0.04704	0.02508658	0.00542	0.037136853	0.04704	0.02508658	0.00542	-2.653	0.07079	T	.	.	0.086	0.13080	B	.;.	.;.	0.299556	0.06756	3.267	0.26786485108634533	0.01299	0.22660	0.21821	N	AEFBCI	0.126577	0.24358	N	-1.36717920388515	0.02951	0.1310809	-1.37797892533313	0.03488	0.1627928	0.987924741475443	0.31374	0.706298	0.61202	0	0.588015	0.36545	0	0.709663	0.75317	0	0.620846	0.47308	0	.	.	5.66	0.466	0.15928	0.302000	0.18947	0.573000	0.19627	-0.174000	0.10959	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.1134:0.4508:0.2256:0.2102	2.814	0.05117	942	0.12992	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	2307.43	143	chr10	24543238	.	C	G	2307.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.84;DP=545;ExcessHet=0;FS=0.625;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=16.14;ReadPosRankSum=-1.458;SOR=0.8	GT:AD:DP:GQ:PL	0/1:65,78:143:99:2319,0,1648	9	0	1	0
chr10	24620625	24620625	C	T	exonic	ARHGAP21	.	nonsynonymous SNV	ARHGAP21:NM_001367455:exon2:c.G631A:p.D211N,ARHGAP21:NM_001367452:exon6:c.G799A:p.D267N,ARHGAP21:NM_001367447:exon8:c.G1240A:p.D414N,ARHGAP21:NM_001367451:exon8:c.G1240A:p.D414N,ARHGAP21:NM_001367453:exon8:c.G1240A:p.D414N,ARHGAP21:NM_001367448:exon9:c.G1270A:p.D424N,ARHGAP21:NM_001367454:exon9:c.G1270A:p.D424N,ARHGAP21:NM_020824:exon9:c.G1270A:p.D424N,ARHGAP21:NM_001367449:exon10:c.G976A:p.D326N,ARHGAP21:NM_001367450:exon11:c.G976A:p.D326N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.094	0.0113489899953	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1274702141	6.841e-07	6.84e-07	1.361e-06	0	0.0002	0	0	.	.	0	0	0	0	0	0.0002	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.023	0.48186	D	0.166	0.30828	T	0.374	0.34192	B	0.206	0.37138	B	0.000052	0.53742	D	0.162448	0.728343	0.33691	D	.	.	.	2.85	0.46028	T	-0.79	0.21860	N	0.279	0.38335	-0.8455	0.52277	T	0.124	0.42736	T	10	0.2288717	0.39801	T	0.011349	0.28886	T	0.094	0.27141	.	.	0.189391138174	0.18552	0.3470159669360768	0.34615	0.419571383782	0.42508	0.409545570612	0.26394	T	.	.	.	-0.242925	0.14977	T	-0.586722	0.13950	T	0.489629924297333	0.32250	T	0.976902	0.92129	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.120	0.34294	B	.;.;.;.;.;.	.;.;.;.;.;.	2.915604	0.38689	20.8	0.99666461517343741	0.78266	0.43982	0.27218	N	AEFGBI	0.230366	0.35376	N	-0.267252390177368	0.30420	1.696075	-0.243360821714599	0.30001	1.685454	0.999989923629791	0.51787	0.732398	0.92422	0	0.708844	0.79440	0	0.743671	0.96076	0	0.727631	0.95156	0	.	.	5.71	4.75	0.59954	4.441000	0.59724	5.887000	0.50713	0.599000	0.40250	0.950000	0.33075	1.000000	0.68203	0.276000	0.23917	0.0:0.8695:0.1305:0.0	16.523	0.84169	963	0.08280	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1330.43	113	chr10	24620625	.	C	T	1330.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.75;DP=458;ExcessHet=0;FS=1.511;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=59.18;MQRankSum=-1.37;QD=11.77;ReadPosRankSum=2.1;SOR=0.86	GT:AD:DP:GQ:PL	0/1:64,49:113:99:1342,0,1638	9	0	1	0
chr10	29490860	29490860	C	T	exonic	SVIL	.	nonsynonymous SNV	SVIL:NM_003174:exon20:c.G2901A:p.M967I,SVIL:NM_001323600:exon21:c.G2997A:p.M999I,SVIL:NM_021738:exon22:c.G4179A:p.M1393I,SVIL:NM_001323599:exon23:c.G3249A:p.M1083I	.	436	991	95	0	0	95	0.045739	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.196	.	.	.	0.0030	0.0008	0.0003	0.0003	0.0025	0.0015	0.0045	0.0140	3.84e-05	1	26028	rs757300194	2.794e-05	0.0018	1.94e-05	3.66e-05	0.0001	2.106e-05	1.854e-05	6.565e-05	4.989e-05	3.027e-05	4.616e-05	0.0001	5.135e-05	0	0	1.92e-05	1.694e-05	0.0001	2.02e-05	0.0009	2.624e-05	1.383e-05	3.009e-05	5.37e-06	2.49e-06	4.99e-06	1.87e-06	0	0	0	0	0	9.783e-05	0	3.009e-05	0	0	0.251	0.26300	T	0.338	0.19188	T	0.001	0.21238	B	0.002	0.16862	B	0.000000	0.84330	D	0.080390	0.999644	0.48019	D	1.275	0.32135	L	2.83	0.10771	T	-2.01	0.47683	N	0.833	0.82862	-0.3829	0.72561	T	0.441	0.77934	T	10	0.01062569	0.00236	T	.	.	.	0.196	0.47777	0.315	0.29096	0.102598925029	0.09809	0.5538617382080628	0.55312	0.32964423376	0.35070	0.654423296452	0.60614	T	0.043114	0.26399	T	-0.123078	0.32621	T	-0.41457	0.31698	T	0.0747122019529343	0.09297	T	0.89841	0.64469	D	0.29034367	0.52024	0.28399682	0.54395	0.29034367	0.52024	0.28399682	0.54394	-10.193	0.75058	D	0.16825139534427275	0.21027	0.460	0.69288	A	.;.;.	.;.;.	3.963416	0.58142	23.9	0.74794420715289511	0.10829	0.96717	0.70563	D	AEFDGBI	0.421191	0.48771	N	-0.482251454692371	0.22663	1.211673	-0.409489271843162	0.24719	1.355184	0.986166000563011	0.31015	0.706298	0.61202	0	0.601575	0.49859	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	3.88	2.98	0.33575	5.584000	0.67185	6.001000	0.52488	0.449000	0.21268	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.0:0.9105:0.0:0.0895	11.369	0.48927	975	0.05339	.;.;.	.	.	.	.	.	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	0.029412	0.060811	0.016484	0.039474	0.000000	0.052632	0.025926	0.025000	0.15	362.45	112	chr10	29490860	.	C	T	362.45	.	AC=3;AF=0.15;AN=20;BaseQRankSum=3.26;DP=720;ExcessHet=0.7463;FS=70.302;InbreedingCoeff=-0.1765;MLEAC=3;MLEAF=0.15;MQ=58.16;MQRankSum=-9.961;QD=1.1;ReadPosRankSum=-4.361;SOR=4.882	GT:AD:DP:GQ:PL	0/1:99,13:112:99:160,0,2609	7	0	3	0
chr10	46462315	46462315	C	T	exonic	NPY4R	.	stopgain	NPY4R:NM_001278794:exon2:c.G321A:p.W107X,NPY4R:NM_005972:exon3:c.G321A:p.W107X	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.839	0.0546725424688	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.968e-06	3.425e-06	2.977e-06	2.958e-06	2.296e-05	6.9e-07	4.7e-07	.	.	0	2.296e-05	7.91e-05	0	0	0	9.89e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.457	0.49420	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.	.;.	7.469501	0.96549	36	.	.	.	.	.	.	0.302460	0.41070	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.713000	0.68067	7.247000	0.57918	0.568000	0.28809	1.000000	0.71638	1.000000	0.68203	0.697000	0.34049	.	.	.	.	.	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1122.43	377	chr10	46462315	.	C	T	1122.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=3.09;DP=709;ExcessHet=0;FS=2.157;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=35.37;MQRankSum=0.342;QD=2.98;ReadPosRankSum=-1.209;SOR=0.515	GT:AD:DP:GQ:PL	0/1:311,66:377:99:1134,0,9666	9	0	1	0
chr10	46549598	46549598	C	T	exonic	GPRIN2	.	nonsynonymous SNV	GPRIN2:NM_001385275:exon3:c.G1139A:p.R380Q,GPRIN2:NM_001385276:exon3:c.G1139A:p.R380Q,GPRIN2:NM_001385282:exon3:c.G1139A:p.R380Q,GPRIN2:NM_014696:exon3:c.G1139A:p.R380Q,GPRIN2:NM_001385277:exon4:c.G1139A:p.R380Q,GPRIN2:NM_001385278:exon4:c.G1139A:p.R380Q,GPRIN2:NM_001385279:exon4:c.G1139A:p.R380Q,GPRIN2:NM_001385280:exon4:c.G1139A:p.R380Q,GPRIN2:NM_001385281:exon4:c.G1139A:p.R380Q,GPRIN2:NM_001385283:exon4:c.G1139A:p.R380Q,GPRIN2:NM_001385287:exon4:c.G1211A:p.R404Q,GPRIN2:NM_001385289:exon4:c.G1211A:p.R404Q,GPRIN2:NM_001385300:exon4:c.G1211A:p.R404Q,GPRIN2:NM_001385291:exon5:c.G1211A:p.R404Q,GPRIN2:NM_001385293:exon5:c.G1211A:p.R404Q,GPRIN2:NM_001385294:exon5:c.G1211A:p.R404Q,GPRIN2:NM_001385295:exon5:c.G1211A:p.R404Q,GPRIN2:NM_001385296:exon5:c.G1211A:p.R404Q,GPRIN2:NM_001385301:exon5:c.G1211A:p.R404Q,GPRIN2:NM_001385297:exon6:c.G1211A:p.R404Q,GPRIN2:NM_001385298:exon6:c.G1211A:p.R404Q,GPRIN2:NM_001385299:exon6:c.G1211A:p.R404Q	.	396	1102	23	1	0	25	0.0112158	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.192	0.0142984692189	.	.	.	.	.	.	.	.	.	.	.	.	.	rs150696937	0.0034	0.0068	0.0035	0.0034	0.0095	0.0033	0.0033	0.0075	0.0068	0.0008	0.0026	0.0079	0	0.0009	0.0095	0.0038	0.0038	0.0015	0.0026	0.0049	0.0029	0.0024	0.0038	0.0024	0.0023	0.0034	0.0032	0.0010	0	0.0030	0.0082	0.0004	0.0008	0.0105	0.0038	0.0029	0.0023	0.016	0.51853	D	0.024	0.56640	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.84	0.24656	T	-3.9	0.72932	D	0.212	0.23632	.	.	.	.	.	.	.	0.03615442	0.01899	T	.	.	.	.	.	.	.	.	.	0.5480051513584038	0.54726	.	.	.	.	.	0.064308	0.32400	T	.	.	.	.	.	.	.	.	.	0.832417	0.50060	T	.	.	.	.	.	.	.	.	-5.983	0.46138	T	.	.	0.079	0.08609	B	.;.	.;.	3.526453	0.49461	22.8	.	.	.	.	.	.	0.226162	0.35015	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.414000	0.44281	0.153000	0.15315	0.549000	0.26987	0.991000	0.37257	0.006000	0.19429	0.975000	0.56047	.	.	.	970	0.06235	G protein-regulated inducer of neurite outgrowth, C-terminal;G protein-regulated inducer of neurite outgrowth, C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1327.43	335	chr10	46549598	.	C	T	1327.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=3.22;DP=2949;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=3.96;ReadPosRankSum=-0.956;SOR=0.715	GT:AD:DP:GQ:PL	0/1:266,69:335:99:1339,0,7021	9	0	1	0
chr10	46550688	46550688	G	T	exonic	GPRIN2	.	nonsynonymous SNV	GPRIN2:NM_001385275:exon3:c.C49A:p.R17S,GPRIN2:NM_001385276:exon3:c.C49A:p.R17S,GPRIN2:NM_001385282:exon3:c.C49A:p.R17S,GPRIN2:NM_014696:exon3:c.C49A:p.R17S,GPRIN2:NM_001385277:exon4:c.C49A:p.R17S,GPRIN2:NM_001385278:exon4:c.C49A:p.R17S,GPRIN2:NM_001385279:exon4:c.C49A:p.R17S,GPRIN2:NM_001385280:exon4:c.C49A:p.R17S,GPRIN2:NM_001385281:exon4:c.C49A:p.R17S,GPRIN2:NM_001385283:exon4:c.C49A:p.R17S,GPRIN2:NM_001385287:exon4:c.C121A:p.R41S,GPRIN2:NM_001385289:exon4:c.C121A:p.R41S,GPRIN2:NM_001385300:exon4:c.C121A:p.R41S,GPRIN2:NM_001385291:exon5:c.C121A:p.R41S,GPRIN2:NM_001385293:exon5:c.C121A:p.R41S,GPRIN2:NM_001385294:exon5:c.C121A:p.R41S,GPRIN2:NM_001385295:exon5:c.C121A:p.R41S,GPRIN2:NM_001385296:exon5:c.C121A:p.R41S,GPRIN2:NM_001385301:exon5:c.C121A:p.R41S,GPRIN2:NM_001385297:exon6:c.C121A:p.R41S,GPRIN2:NM_001385298:exon6:c.C121A:p.R41S,GPRIN2:NM_001385299:exon6:c.C121A:p.R41S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.077	0.00542809558327	.	0.000199681	3.73e-05	0	0	0	0	4.844e-05	0	0.0001	3.88e-05	6	154602	rs570249207	2.871e-05	3.762e-05	2.165e-05	3.605e-05	3.572e-05	2.149e-05	1.887e-05	2.655e-05	2.324e-05	0	0	0	0	0	0	3.572e-05	1.79e-05	0	1.313e-05	2.626e-05	2.568e-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	0.37	0.11550	T	0.129	0.34837	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.84	0.03675	T	-0.56	0.17003	N	0.117	0.10626	.	.	.	.	.	.	.	0.067548275	0.09427	T	.	.	.	.	.	.	.	.	.	0.2869772174484625	0.28610	.	.	.	.	.	0.007099	0.06517	T	.	.	.	.	.	.	.	.	.	0.351465	0.07848	T	.	.	.	.	.	.	.	.	-3.885	0.22077	T	.	.	0.150	0.34514	B	.;.	.;.	0.385240	0.07572	4.225	.	.	.	.	.	.	0.117223	0.22974	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.007000	0.12747	-1.426000	0.05467	-0.704000	0.03997	0.010000	0.18352	0.000000	0.08366	0.049000	0.15107	.	.	.	970	0.06235	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	228.43	76	chr10	46550688	.	G	T	228.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.33;DP=541;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=3.01;ReadPosRankSum=-0.393;SOR=0.693	GT:AD:DP:GQ:PL	0/1:63,13:76:99:240,0,1877	9	0	1	0
chr10	47368096	47368096	T	G	exonic	ZNF488	.	nonsynonymous SNV	ZNF488:NM_153034:exon2:c.A734C:p.Q245P,ZNF488:NM_001346933:exon3:c.A734C:p.Q245P,ZNF488:NM_001346934:exon3:c.A734C:p.Q245P,ZNF488:NM_001346935:exon3:c.A734C:p.Q245P,ZNF488:NM_001346936:exon3:c.A734C:p.Q245P,ZNF488:NM_001346932:exon4:c.A734C:p.Q245P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.019	0.002335794735	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.311	0.19660	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.89	0.31987	T	.	.	.	0.082	0.05799	.	.	.	.	.	.	.	0.08178657	0.13426	T	.	.	.	.	.	.	.	.	.	0.8664288151955544	0.86607	.	.	.	.	.	0.002128	0.01528	T	.	.	.	.	.	.	.	.	.	0.283072	0.04975	T	.	.	.	.	.	.	.	.	-3.053	0.10763	T	.	.	0.066	0.02518	B	.;.	.;.	-0.382725	0.02277	0.237	.	.	.	.	.	.	0.104218	0.20859	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.221000	0.17463	-1.358000	0.05630	-0.686000	0.04175	0.000000	0.06391	0.000000	0.08366	0.006000	0.07323	.	.	.	976	0.04745	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1172.43	94	chr10	47368096	.	T	G	1172.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-4.114;DP=487;ExcessHet=0;FS=3.933;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.47;ReadPosRankSum=-0.976;SOR=0.367	GT:AD:DP:GQ:PL	0/1:48,46:94:99:1184,0,1523	9	0	1	0
chr10	47368727	47368727	G	A	exonic	ZNF488	.	stopgain	ZNF488:NM_153034:exon2:c.C103T:p.R35X,ZNF488:NM_001346933:exon3:c.C103T:p.R35X,ZNF488:NM_001346934:exon3:c.C103T:p.R35X,ZNF488:NM_001346935:exon3:c.C103T:p.R35X,ZNF488:NM_001346936:exon3:c.C103T:p.R35X,ZNF488:NM_001346932:exon4:c.C103T:p.R35X	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs782230600	5.75e-05	5.814e-05	6.403e-05	5.091e-05	0.0002	4.746e-05	4.369e-05	8.862e-05	6.428e-05	0	0.0002	0	0	0	0	6.115e-05	0.0001	0	1.969e-05	1.968e-05	2.569e-05	1.342e-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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.034	0.00942	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.604570	0.92485	32	.	.	.	.	.	.	0.094881	0.19178	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.146000	0.10233	-0.239000	0.10608	-0.873000	0.02525	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	976	0.04745	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1594.43	93	chr10	47368727	.	G	A	1594.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.307;DP=491;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=17.14;ReadPosRankSum=1.46;SOR=0.665	GT:AD:DP:GQ:PL	0/1:35,58:93:99:1606,0,836	9	0	1	0
chr10	47922308	47922308	G	A	exonic	NPY4R;NPY4R2	.	stopgain	NPY4R:NM_001278794:exon2:c.G321A:p.W107X,NPY4R2:NM_001278795:exon2:c.G321A:p.W107X	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs781934159	2.039e-06	1.113e-06	0	3.88e-06	.	0	0	.	.	0	0	6.554e-05	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000000	0.84330	D	0.000000	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.	.;.	7.797625	0.96871	36	0.99604310179496169	0.74397	0.93919	0.59572	D	AEFDBCI	.	.	.	0.820339507489889	0.87359	9.191286	0.653377779233862	0.78863	6.962493	1.0	0.98316	0.62174	0.39705	0	0.563428	0.19063	0	0.491614	0.08109	1	0.562822	0.20929	0	.	.	5.0	5.0	0.66209	7.545000	0.81074	10.923000	0.84246	0.364000	0.20138	1.000000	0.71638	1.000000	0.68203	0.679000	0.33513	0.0:0.0:1.0:0.0	16.172	0.81640	988	0.01987	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	86.24	10	chr10	47922308	.	G	A	86.24	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.26;DP=132;ExcessHet=0;FS=0;InbreedingCoeff=-0.1085;MLEAC=1;MLEAF=0.05;MQ=27;MQRankSum=0;QD=8.62;ReadPosRankSum=1.69;SOR=0.412	GT:AD:DP:GQ:PL	0/1:6,4:10:97:97,0,156	9	0	1	0
chr10	49325727	49325727	C	T	exonic	C10orf71	.	nonsynonymous SNV	C10orf71:NM_001135196:exon3:c.C3182T:p.S1061F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.150	0.0348760490464	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1433016245	5.005e-06	4.79e-06	5.644e-06	4.349e-06	0.0002	2.08e-06	1.34e-06	3.808e-05	2.256e-05	0	0	0	0.0001	0	0.0002	1.855e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	.	.	.	.	.	.	0.029326	0.25470	N	0.194590	0.982069	0.81001	D	.	.	.	3.23	0.06931	T	-3.46	0.67705	D	0.433	0.47208	-1.2174	0.00060	T	0.053	0.22501	T	8	0.27307472	0.44854	T	0.034876	0.55972	D	0.150	0.39571	0.341	0.33302	0.242244723065	0.23846	0.42143286071234864	0.42059	0.897905251988	0.70530	.	.	.	.	.	.	-0.284163	0.10232	T	-0.442357	0.28545	T	0.967042148113251	0.67779	D	0.60234	0.22547	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.119	0.24329	B	.	.	3.517635	0.49290	22.8	0.99777850571032911	0.86519	0.93047	0.57193	D	AEFDBI	0.227097	0.35095	N	0.195924467863706	0.51003	3.285178	0.20482451660263	0.50116	3.206964	0.99998203584647	0.51787	0.487112	0.14033	0	0.59043	0.45803	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.38	5.38	0.77279	2.281000	0.43113	4.006000	0.41118	0.549000	0.26987	0.971000	0.34370	0.999000	0.35428	0.024000	0.12247	0.0:1.0:0.0:0.0	16.280	0.82500	894	0.26265	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001225	0.000000	0.000000	0.005747	0.000000	0.000000	0.000000	0.000000	0.05	2004.43	141	chr10	49325727	.	C	T	2004.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.55;DP=911;ExcessHet=0;FS=0.62;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.22;ReadPosRankSum=-0.008;SOR=0.767	GT:AD:DP:GQ:PL	0/1:67,74:141:99:2016,0,2512	9	0	1	0
chr10	49693888	49693888	A	C	exonic	C10orf53	.	nonsynonymous SNV	C10orf53:NM_001042427:exon2:c.A212C:p.E71A,C10orf53:NM_182554:exon2:c.A212C:p.E71A	.	11	1484	26	1	0	28	0.00934579	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.163	.	0.0005	0.00559105	0.0037	0.0003	0.0005	0.0029	0.0002	0.0003	0.0044	0.0240	0.0033829	523	154602	rs151088739	0.0018	0.0018	0.0010	0.0026	0.0251	0.0018	0.0018	0.0242	0.0238	0.0002	0.0003	0.0005	0.0016	0	0.0059	0.0002	0.0022	0.0251	0.0012	0.0012	0.0007	0.0018	0.0261	0.0011	0.0010	0.0224	0.0210	0.0005	0	0.0004	0.0003	0.0031	0	0	0.0003	0.0009	0.0261	0.024	0.54683	D	0.065	0.53788	T	0.925	0.51395	P	0.536	0.48739	P	0.027900	0.25687	N	0.263694	0.642776	0.32891	D	.	.	.	.	.	.	-4.05	0.74504	D	0.235	0.37093	-0.1721	0.78377	T	0.328	0.69640	T	8	0.008113354	0.00184	T	.	.	.	0.163	0.42028	.	.	0.247872288689	0.24386	0.22515188280475099	0.22430	0.146165741944	0.16499	.	.	.	0.116495	0.43589	T	-0.309029	0.07834	T	-0.197078	0.54922	T	0.0554698054955021	0.06436	T	0.780122	0.41468	T	0.28914887	0.51913	0.39713305	0.64336	0.28914887	0.51913	0.39713305	0.64336	-3.376	0.15725	T	.	.	0.257	0.54933	B	.;.;.;.	.;.;.;.	3.385103	0.46838	22.4	0.99527744726164491	0.69653	0.97233	0.73478	D	AEFBI	.	.	.	0.537053647311913	0.69297	5.337021	0.569512430203391	0.72764	5.861727	0.998316937861039	0.36741	0.446893	0.09132	0	0.563428	0.19063	0	0.563428	0.18855	0	0.530356	0.10902	0	.	.	5.6	5.6	0.84997	5.930000	0.69823	11.100000	0.86102	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.789000	0.37270	1.0:0.0:0.0:0.0	14.776	0.69352	883	0.28872	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.005539	0.000000	0.001359	0.014620	0.000000	0.000000	0.000000	0.022727	0.05	875.43	88	chr10	49693888	.	A	C	875.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.627;DP=447;ExcessHet=0;FS=1.755;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.95;ReadPosRankSum=1.34;SOR=0.502	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:51,37:88:99:0|1:49693888_A_C:887,0,1297:49693888	9	0	1	0
chr10	54213995	54213995	G	A	exonic	PCDH15	.	nonsynonymous SNV	PCDH15:NM_001142767:exon9:c.C928T:p.L310F,PCDH15:NM_001142768:exon9:c.C973T:p.L325F,PCDH15:NM_001142773:exon9:c.C973T:p.L325F,PCDH15:NM_001142764:exon10:c.C1039T:p.L347F,PCDH15:NM_001142765:exon10:c.C1039T:p.L347F,PCDH15:NM_001142766:exon10:c.C1039T:p.L347F,PCDH15:NM_001354411:exon10:c.C1039T:p.L347F,PCDH15:NM_001354420:exon10:c.C1039T:p.L347F,PCDH15:NM_001354429:exon10:c.C1039T:p.L347F,PCDH15:NM_001354430:exon10:c.C1039T:p.L347F,PCDH15:NM_001384140:exon10:c.C1039T:p.L347F,PCDH15:NM_033056:exon10:c.C1039T:p.L347F,PCDH15:NM_001142763:exon11:c.C1054T:p.L352F,PCDH15:NM_001354404:exon12:c.C973T:p.L325F	Deafness, autosomal recessive 23, Autosomal recessive;Usher syndrome, type 1D/F digenic, Autosomal recessive, Digenic recessive;Usher syndrome, type 1F, Autosomal recessive	3	1495	24	0	0	24	0.00796284	.	.	.	55599	not_specified|Usher_syndrome_type_1|not_provided|Usher_syndrome_type_1F	MedGen:CN169374|MONDO:MONDO:0010168,MedGen:C1568247,OMIM:276900,Orphanet:231169,Orphanet:886|MedGen:C3661900|MONDO:MONDO:0011186,MedGen:C1865885,OMIM:602083,Orphanet:231169,Orphanet:886	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.254	0.0477581669201	0.0035	0.00119808	0.0036	0.0006	0.0018	0	0.0009	0.0053	0.0033	0.0028	0.0035575	550	154602	rs111033436	0.0041	0.0041	0.0039	0.0042	0.0050	0.0040	0.0039	0.0042	0.0041	0.0007	0.0020	0.0168	0	0.0010	0.0050	0.0043	0.0045	0.0030	0.0032	0.0032	0.0033	0.0030	0.0046	0.0029	0.0028	0.0042	0.0040	0.0008	0.0110	0.0029	0.0161	0	0.0004	0.0034	0.0046	0.0043	0.0027	0.002	0.72154	D	0.0	0.92824	D	0.997	0.90584	D	0.964	0.88582	D	.	.	.	.	1	0.81001	D	2.615	0.76484	M	0.43	0.56772	T	-2.87	0.62518	D	0.807	0.87481	-0.3166	0.74517	T	0.307	0.67740	T	9	0.0059919655	0.00134	T	0.047758	0.63066	D	0.254	0.56428	.	.	0.705405603352	0.70284	0.6460078611123972	0.64535	0.21467462913	0.24008	0.611727297306	0.54561	T	0.124994	0.82072	T	-0.257932	0.13143	T	-0.140943	0.60036	T	0.0103998413265441	0.00143	T	0.944805	0.79334	D	0.4974293	0.66944	0.3812635	0.63140	0.50377804	0.67317	0.36944348	0.62214	-11.315	0.81932	D	0.6398601033422839	0.71041	0.504	0.74312	A	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	4.742781	0.76508	26.5	0.99903023584850525	0.97426	0.94803	0.62383	D	AEFDI	0.849311	0.76613	D	0.798106157721513	0.85986	8.743229	0.752945161623409	0.86377	8.869651	0.499505483150631	0.20930	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	4.99	4.99	0.65942	7.139000	0.76905	9.765000	0.81528	0.671000	0.69459	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:1.0:0.0	18.206	0.89790	894	0.26265	Cadherin-like|Cadherin-like;Cadherin-like|Cadherin-like;Cadherin-like|Cadherin-like;Cadherin-like|Cadherin-like;.;Cadherin-like|Cadherin-like;.;Cadherin-like|Cadherin-like;Cadherin-like|Cadherin-like;Cadherin-like;Cadherin-like|Cadherin-like;.;Cadherin-like|Cadherin-like;Cadherin-like|Cadherin-like;Cadherin-like|Cadherin-like;Cadherin-like|Cadherin-like;Cadherin-like|Cadherin-like;Cadherin-like|Cadherin-like;Cadherin-like|Cadherin-like;Cadherin-like|Cadherin-like;Cadherin-like|Cadherin-like;Cadherin-like|Cadherin-like;Cadherin-like|Cadherin-like;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.005035	0.010101	0.001359	0.005848	0.000000	0.000000	0.006098	0.007576	0.05	911.43	75	chr10	54213995	.	G	A	911.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.81;DP=389;ExcessHet=0;FS=0.868;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.15;ReadPosRankSum=1.04;SOR=0.753	GT:AD:DP:GQ:PL	0/1:37,38:75:99:923,0,790	9	0	1	0
chr10	69250430	69250432	GAG	-	exonic	HKDC1	.	nonframeshift deletion	HKDC1:NM_025130:exon11:c.1711_1713del:p.E572del	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1207145637	3.423e-06	3.42e-06	1.362e-06	5.506e-06	0.0003	1e-06	7.3e-07	6.101e-05	2.525e-05	0	0	0	0	0	0.0003	0	1.657e-05	2.319e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	1638.39	108	chr10	69250429	.	TGAG	T	1638.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.38;DP=473;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=15.17;ReadPosRankSum=-0.176;SOR=0.651	GT:AD:DP:GQ:PL	0/1:64,44:108:99:1650,0,2555	9	0	1	0
chr10	71675166	71675166	G	A	exonic	CDH23	.	nonsynonymous SNV	CDH23:NM_001171930:exon14:c.G1504A:p.D502N,CDH23:NM_001171931:exon14:c.G1504A:p.D502N,CDH23:NM_022124:exon14:c.G1504A:p.D502N	Deafness, autosomal recessive 12, Autosomal recessive;Usher syndrome, type 1D, Autosomal recessive, Digenic recessive;Usher syndrome, type 1D/F digenic, Autosomal recessive, Digenic recessive	0	1519	3	0	0	3	0.000986518	.	.	.	493921	not_provided|Usher_syndrome_type_1	MedGen:C3661900|MONDO:MONDO:0010168,MedGen:C1568247,OMIM:276900,Orphanet:231169,Orphanet:886	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.029	0.0113663399401	0.0002	.	5.835e-05	0.0001	0	0	0	9.045e-05	0	0	4.53e-05	7	154602	rs200459094	3.969e-05	3.967e-05	3.949e-05	3.989e-05	0.0005	3.114e-05	2.847e-05	0.0001	7.546e-05	0	2.236e-05	0	0	0	0.0005	4.588e-05	1.656e-05	2.319e-05	3.941e-05	3.939e-05	3.853e-05	4.033e-05	8.817e-05	1.715e-05	1.129e-05	3.761e-05	2.574e-05	0	0	0	0	0	0	0	8.817e-05	0	0	.	.	.	0.015	0.67890	D	0.001	0.07471	B	0.008	0.13708	B	0.000005	0.62929	D	0.061598	0.999993	0.58761	D	0.69	0.16971	N	.	.	.	.	.	.	0.202	0.29081	-1.0268	0.21494	T	0.118	0.41538	T	9	0.17265767	0.32050	T	0.011366	0.28926	T	0.029	0.06676	.	.	0.697263286892	0.69465	0.3841017070216274	0.38325	.	.	0.51692545414	0.41193	T	0.01224	0.44353	T	-0.233749	0.16157	T	-0.381858	0.35505	T	0.400401464217497	0.28957	T	0.886611	0.61335	D	0.28462508	0.51488	0.29959977	0.55994	0.28462508	0.51488	0.29959977	0.55993	-4.773	0.34275	T	.	.	0.115	0.32104	B	.;.;.;.;.;.	.;.;.;.;.;.	3.429252	0.47650	22.5	0.99762815137744754	0.85172	0.98077	0.79403	D	AEFDBI	0.844675	0.76162	D	-0.136378455972356	0.35817	2.06211	0.0848858630290994	0.43787	2.673351	0.999999978881854	0.74766	0.614807	0.35715	0	0.610034	0.51514	0	0.616094	0.41390	0	0.542086	0.14980	0	.	.	5.72	4.81	0.61401	6.983000	0.75953	8.607000	0.77753	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0685:0.0:0.9315:0.0	15.094	0.71885	894	0.26265	Cadherin-like|Cadherin-like;Cadherin-like|Cadherin-like;Cadherin-like|Cadherin-like;Cadherin-like|Cadherin-like;Cadherin-like|Cadherin-like;Cadherin-like|Cadherin-like	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.05	2060.43	137	chr10	71675166	.	G	A	2060.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.75;DP=499;ExcessHet=0;FS=7.596;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=15.04;ReadPosRankSum=-1.032;SOR=1.014	GT:AD:DP:GQ:PL	0/1:62,75:137:99:2072,0,1495	9	0	1	0
chr10	80538374	80538374	C	G	exonic	SH2D4B	.	nonsynonymous SNV	SH2D4B:NM_207372:exon1:c.C43G:p.L15V	.	414	1107	1	0	0	1	0.000451467	.	.	.	3317882	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.195	0.00423306183917	.	.	9.406e-05	0	0	0	0	0.0002	0	0	3.23e-05	5	154602	rs577059009	9.77e-05	0.0001	0.0001	7.688e-05	0.0029	8.363e-05	7.837e-05	0.0017	0.0014	0.0003	0.0010	0.0004	0	0	0.0029	6.239e-05	0.0003	1.758e-05	0.0002	0.0002	0.0002	0.0002	0.0005	0.0001	0.0001	0.0002	0.0002	0	0	0.0005	0.0012	0	0	0.0136	0.0002	0.0014	0.0002	0.0	0.91255	D	0.008	0.67890	D	0.998	0.73220	D	0.996	0.84481	D	0.000008	0.62929	D	0.000000	0.999921	0.51308	D	1.62	0.41497	L	2.59	0.13317	T	-2.19	0.49352	N	0.175	0.18784	-1.0981	0.04328	T	0.097	0.36496	T	10	0.11804545	0.22309	T	0.004233	0.10216	T	0.195	0.47612	0.518	0.61915	0.726185039024	0.72376	0.15411021449129814	0.15332	0.269134177916	0.29430	0.581686317921	0.50322	T	.	.	.	-0.421567	0.01671	T	-0.448487	0.27864	T	0.230524958891019	0.21976	T	0.958704	0.85835	D	.	.	.	.	.	.	.	.	-8.599	0.65083	D	.	.	0.174	0.38062	B	.;.	.;.	3.362878	0.46435	22.3	0.9983337014735939	0.91456	0.78347	0.38640	D	AEFBCI	0.357199	0.44831	N	0.677662152115517	0.78167	6.817655	0.658613775610813	0.79254	7.043646	0.99999935750402	0.74766	0.403107	0.06075	0	0.475579	0.06741	0	0.578056	0.29568	0	0.562822	0.20929	0	.	.	5.53	5.53	0.82530	2.800000	0.47595	2.696000	0.34125	0.599000	0.40250	0.999000	0.42656	1.000000	0.68203	0.929000	0.46594	0.0:1.0:0.0:0.0	16.955	0.86126	972	0.05671	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003099	0.000000	0.002817	0.005952	0.000000	0.000000	0.000000	0.003817	0.05	1006.43	79	chr10	80538374	.	C	G	1006.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.073;DP=386;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.74;ReadPosRankSum=1.03;SOR=0.72	GT:AD:DP:GQ:PL	0/1:38,41:79:99:1018,0,930	9	0	1	0
chr10	81878002	81878002	A	C	exonic	NRG3	.	nonsynonymous SNV	NRG3:NM_001165973:exon1:c.A42C:p.R14S	.	0	1517	5	0	0	5	0.00164528	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.024	0.00232485124126	.	.	9.753e-05	0	0	0	0	0	0	0.0003	1.29e-05	2	154602	rs758891785	7.795e-05	7.388e-05	7.979e-05	7.607e-05	9.083e-05	6.592e-05	6.127e-05	7.625e-05	7.005e-05	3.165e-05	0	0	0	5.669e-05	0	9.083e-05	5.165e-05	5.049e-05	2.63e-05	2.627e-05	1.285e-05	4.038e-05	6.55e-05	8.15e-06	5.14e-06	8.01e-06	3e-06	4.831e-05	0	6.55e-05	0	0	0	0	1.47e-05	0	0	0.0	0.91255	D	0.0	0.92824	D	0.0	0.02946	B	0.003	0.08700	B	.	.	.	.	1	0.08975	N	.	.	.	1.41	0.50459	T	0.18	0.05035	N	0.082	0.24385	-1.0127	0.26070	T	0.055	0.23110	T	9	0.047946274	0.04180	T	0.002325	0.04479	T	0.024	0.04979	0.32	0.29902	0.0551355673512	0.04727	.	.	.	.	.	.	.	0.23108	0.59732	T	-0.456855	0.01028	T	-0.697715	0.05951	T	0.0321661661073426	0.02332	T	0.255674	0.11480	T	.	.	.	.	.	.	.	.	-3.321	0.14010	T	.	.	0.316	0.61316	B	.;.;.	.;.;.	0.103368	0.05042	1.590	0.30135975887647626	0.01633	0.04106	0.09575	N	AEFBI	0.081649	0.16525	N	-1.56955443728597	0.01424	0.06208401	-1.70016851153661	0.01137	0.0511123	0.999999989711219	0.74766	0.541725	0.22260	1	0.573888	0.26702	0	0.475579	0.07313	0	0.631177	0.49321	0	.	.	4.23	-8.47	0.00819	-0.114000	0.10729	-0.793000	0.07406	-0.103000	0.15852	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2754:0.1944:0.1153:0.4149	0.810	0.01021	922	0.19044	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001142	0.000000	0.006024	0.000000	0.000000	0.000000	0.000000	0.000000	0.05	993.43	74	chr10	81878002	.	A	C	993.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.895;DP=379;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.42;ReadPosRankSum=-0.901;SOR=0.727	GT:AD:DP:GQ:PL	0/1:34,40:74:99:1005,0,740	9	0	1	0
chr10	87232948	87232948	C	T	exonic	NUTM2A	.	nonsynonymous SNV	NUTM2A:NM_001099338:exon5:c.C1697T:p.T566I	.	477	972	70	3	0	76	0.0376238	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.058	.	.	0.0259585	0.0194	0.0025	0	0.0685	0.0259	0.0249	0	0	0.0049946	130	26028	rs202126908	0.0012	0.0039	0.0010	0.0013	0.0044	0.0011	0.0011	0.0039	0.0037	0.0008	0.0009	0.0057	0.0044	0.0016	0.0019	0.0008	0.0017	0.0025	0.0033	0.0080	0.0032	0.0034	0.0112	0.0030	0.0029	0.0087	0.0078	0.0032	0.0037	0.0028	0.0142	0.0112	0.0028	0.0043	0.0024	0.0016	0.0032	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.001	0.04355	B	0.559385	0.11352	N	0.786733	1	0.08975	N	.	.	.	3.4	0.14284	T	4.16	0.00060	N	0.057	0.03175	-0.9445	0.41895	T	0.006	0.02018	T	10	0.0018707514	0.00025	T	.	.	.	0.058	0.16647	.	.	0.043077524339	0.03247	0.011859587337732114	0.01145	.	.	0.664815962315	0.62098	T	0.003499	0.02909	T	-0.256714	0.13287	T	-0.606528	0.12270	T	0.00567222257557896	0.00062	T	0.0425957	0.00300	T	0.019963365	0.00539	0.03269047	0.02043	0.019963365	0.00539	0.03269047	0.02043	3.966	0.00009	T	.	.	0.051	0.00187	B	.;.	.;.	-0.721230	0.01272	0.067	0.74543639528431049	0.10734	0.00003	0.00079	N	AEFI	0.011378	0.00100	N	-1.99035120200077	0.00222	0.009508936	-1.91549691999944	0.00456	0.02018859	1.31856290869846E-6	0.01202	0.554377	0.28877	0	0.588066	0.40923	0	0.602189	0.34648	0	0.567892	0.33627	0	.	.	1.29	1.29	0.20717	0.255000	0.18102	-0.265000	0.10395	-0.628000	0.04523	0.029000	0.20367	0.000000	0.08366	0.396000	0.26692	0.0:0.2359:0.0:0.7641	3.588	0.07525	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	0.008900	0.011364	0.014085	0.000000	0.000000	0.000000	0.010638	0.000000	0.1667	418.26	60	chr10	87232948	.	C	T	418.26	.	AC=3;AF=0.167;AN=18;BaseQRankSum=2.01;DP=311;ExcessHet=0.7463;FS=34.917;InbreedingCoeff=-0.2084;MLEAC=3;MLEAF=0.167;MQ=31.56;MQRankSum=-3.567;QD=4.4;ReadPosRankSum=0.595;SOR=4.375	GT:AD:DP:GQ:PL	0/1:44,16:60:99:312,0,1145	6	0	3	1
chr10	92692440	92692440	C	G	exonic	HHEX	.	nonsynonymous SNV	HHEX:NM_002729:exon2:c.C434G:p.S145C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.935	0.600572335024	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1271715312	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.003	0.76473	D	0.997	0.70673	D	0.969	0.72001	D	0.000000	0.84330	D	0.053287	0.999999	0.81001	D	2.92	0.84325	M	-4.02	0.96402	D	-3.8	0.71762	D	0.946	0.95374	1.094	0.99422	D	0.957	0.98602	D	10	0.9500323	0.94337	D	0.600572	0.96482	D	0.935	0.98526	0.723	0.85761	0.991401242545	0.99131	0.8535791868771516	0.85319	1.62381522841	0.89106	0.872465968132	0.92919	D	0.983904	0.99888	D	0.505941	0.94463	D	0.488973	0.94384	D	0.993803977966309	0.84761	D	0.955704	0.83186	D	0.52744055	0.68685	0.49245733	0.70642	0.52744055	0.68686	0.49245733	0.70642	-12.926	0.89056	D	.	.	0.948	0.86710	P	.	.	5.249246	0.88127	29.5	0.9933351883535616	0.59895	0.94785	0.62321	D	AEFDBCIJ	0.734514	0.68062	D	0.924673050841191	0.92914	11.70643	0.855795429339588	0.93349	11.98481	0.999999999999637	0.74766	0.627647	0.40530	0	0.706955	0.78570	0	0.666236	0.60216	0	0.657601	0.63696	0	.	.	5.58	5.58	0.84361	3.823000	0.55415	7.724000	0.67448	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.629000	0.32131	0.0:1.0:0.0:0.0	19.563	0.95373	858	0.34001	Homeobox domain|Homeobox domain|Homeobox domain|Homeobox domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1123.43	75	chr10	92692440	.	C	G	1123.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.058;DP=393;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.98;ReadPosRankSum=0.752;SOR=0.737	GT:AD:DP:GQ:PL	0/1:30,45:75:99:1135,0,690	9	0	1	0
chr10	95037276	95037276	C	T	exonic	CYP2C8	.	nonsynonymous SNV	CYP2C8:NM_001198854:exon8:c.G1019A:p.R340H,CYP2C8:NM_000770:exon9:c.G1325A:p.R442H,CYP2C8:NM_001198853:exon9:c.G1115A:p.R372H,CYP2C8:NM_001198855:exon10:c.G1115A:p.R372H	Rhabdomyolysis, cerivastatin-induced (3)	411	1109	2	0	0	2	0.000900901	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.506	0.0205863676681	7.7e-05	.	1.687e-05	0	0	0	0	3.07e-05	0	0	1.29e-05	2	154602	rs138495387	7.254e-05	7.251e-05	7.081e-05	7.429e-05	0.0004	6.116e-05	5.702e-05	6.873e-05	6.37e-05	2.988e-05	0	0	2.52e-05	0	0.0004	8.275e-05	0.0001	2.32e-05	5.259e-05	5.254e-05	8.997e-05	1.346e-05	0.0001	2.558e-05	1.831e-05	5.842e-05	4.239e-05	0	0	0	0	0	0	0	0.0001	0	0	0.013	0.53900	D	0.015	0.61642	D	0.994	0.66517	D	0.675	0.53279	P	0.000001	0.62929	U	0.000000	0.682358	0.33246	D	3.76	0.95097	H	-0.49	0.70365	T	-4.09	0.74900	D	0.417	0.45709	-0.1928	0.77857	T	0.429	0.77160	T	10	0.6035336	0.67046	D	0.020586	0.43215	T	0.506	0.78724	.	.	0.801223087649	0.79936	0.21162112535075858	0.21078	0.0808308102781	0.09095	0.328026235104	0.14636	T	0.305722	0.67796	T	-0.0864423	0.38660	T	-0.176041	0.56888	T	0.97418200969696	0.70403	D	0.705629	0.31596	T	0.49424413	0.66755	0.3376259	0.59551	0.49424413	0.66756	0.3376259	0.59550	-9.195	0.68943	D	.	.	0.381	0.58475	A	.;.;.;.	.;.;.;.	3.363430	0.46445	22.3	0.99892627087801411	0.96666	0.45044	0.27451	N	AEFI	0.628884	0.61080	D	0.181044580007076	0.50290	3.220379	-0.0026737251584911	0.39596	2.350063	6.55972864254984E-5	0.04366	0.553676	0.25195	0	0.588015	0.36545	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	3.9	1.97	0.25278	2.166000	0.42032	.	.	0.546000	0.25710	0.023000	0.19925	0.000000	0.08366	0.111000	0.18785	0.19:0.7028:0.0:0.1072	6.163	0.19592	777	0.48198	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	454.43	39	chr10	95037276	.	C	T	454.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.56;DP=317;ExcessHet=0;FS=2.795;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.65;ReadPosRankSum=1.89;SOR=0.354	GT:AD:DP:GQ:PL	0/1:21,18:39:99:466,0,461	9	0	1	0
chr10	95755766	95755766	G	A	exonic	ENTPD1	.	nonsynonymous SNV	ENTPD1:NM_001164178:exon1:c.G52A:p.E18K,ENTPD1:NM_001320916:exon1:c.G52A:p.E18K	Spastic paraplegia 64, autosomal recessive, Autosomal recessive	0	1518	4	0	0	4	0.00131579	.	.	.	538416	Hereditary_spastic_paraplegia_64|not_provided	MONDO:MONDO:0014303,MedGen:C3810289,OMIM:615683,Orphanet:401810|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.031	.	0.0028	0.00119808	0.0012	0.0011	0.0033	0	0	0.0020	0.0060	0.0004	0.0008732	135	154602	rs192954755	0.0062	0.0059	0.0063	0.0060	0.0068	0.0061	0.0060	0.0067	0.0066	0.0009	0.0012	7.943e-05	0	0.0209	0	0.0068	0.0060	0.0003	0.0048	0.0048	0.0038	0.0058	0.0048	0.0045	0.0044	0.0044	0.0042	0.0011	0	0.0020	0	0	0.0306	0	0.0048	0.0019	0	0.072	0.34982	T	0.094	0.39645	T	.	.	.	.	.	.	.	.	.	.	0.999981	0.54805	D	.	.	.	2.87	0.10386	T	-0.73	0.20576	N	0.201	0.22228	-1.0359	0.18575	T	0.007	0.02598	T	9	0.003439933	0.00060	T	0.006677	0.17642	T	0.031	0.07369	.	.	0.134007934775	0.12933	0.3627086941746018	0.36184	0.180234907594	0.20274	0.331692218781	0.15190	T	.	.	.	-0.543627	0.00319	T	-0.545698	0.17742	T	0.00582524276549044	0.00064	T	0.422258	0.11242	T	.	.	.	.	.	.	.	.	-3.46	0.15876	T	.	.	0.097	0.15698	B	.	.	1.189393	0.15807	12.12	0.99400666527732939	0.62794	0.15165	0.18777	N	AEFDGBHCI	0.088424	0.17926	N	-0.604526892691706	0.18807	0.979409	-0.602484842401862	0.19428	1.042358	0.999999999988493	0.74766	0.65757	0.49021	0	0.52208	0.09955	0	0.619478	0.44681	0	0.404113	0.06833	1	.	.	3.93	3.03	0.34070	1.330000	0.33387	.	.	0.596000	0.33519	0.817000	0.29947	1.000000	0.68203	0.119000	0.19126	0.1167:0.0:0.8833:0.0	7.416	0.26217	747	0.52260	.	.	.	.	.	rs192954755	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002747	0.000000	0.000000	0.008929	0.000000	0.000000	0.000000	0.000000	0.05	976.43	87	chr10	95755766	.	G	A	976.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.08;DP=402;ExcessHet=0;FS=0.81;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.22;ReadPosRankSum=1.01;SOR=0.764	GT:AD:DP:GQ:PL	0/1:49,38:87:99:988,0,1288	9	0	1	0
chr10	98431242	98431242	G	A	exonic	HPS1	.	nonsynonymous SNV	HPS1:NM_001322483:exon6:c.C188T:p.A63V,HPS1:NM_001322484:exon6:c.C188T:p.A63V,HPS1:NM_001322485:exon6:c.C188T:p.A63V,HPS1:NM_000195:exon7:c.C557T:p.A186V,HPS1:NM_001322476:exon7:c.C557T:p.A186V,HPS1:NM_001322477:exon7:c.C557T:p.A186V,HPS1:NM_001322478:exon7:c.C557T:p.A186V,HPS1:NM_001322479:exon7:c.C557T:p.A186V,HPS1:NM_001322491:exon7:c.C557T:p.A186V,HPS1:NM_182639:exon7:c.C557T:p.A186V	Hermansky-Pudlak syndrome 1, Autosomal recessive	0	1438	80	4	0	88	0.0296896	.	.	.	207810	not_specified|Hermansky-Pudlak_syndrome|Hermansky-Pudlak_syndrome_1|not_provided	MedGen:CN169374|MONDO:MONDO:0019312,MedGen:C0079504,OMIM:PS203300,Orphanet:79430|MONDO:MONDO:0008748,MedGen:C2931875,OMIM:203300,Orphanet:231500,Orphanet:79430|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.054	.	0.0013	0.00599042	0.0050	0.0002	0.0016	0.0002	0	0.0020	0.0059	0.0265	0.0043143	667	154602	rs1801286	0.0027	0.0027	0.0018	0.0037	0.0275	0.0027	0.0026	0.0265	0.0262	0.0003	0.0013	0.0002	2.519e-05	5.643e-05	0.0151	0.0011	0.0038	0.0275	0.0020	0.0020	0.0018	0.0022	0.0226	0.0018	0.0017	0.0191	0.0178	0.0003	0	0.0013	0.0003	0	9.416e-05	0.0102	0.0021	0.0057	0.0226	1.0	0.00964	T	1.0	0.01155	T	0.021	0.31683	B	0.01	0.20508	B	0.002153	0.37138	N	0.314930	0.998406	0.26759	N	1.15	0.29295	L	1.64	0.41058	T	0.91	0.09627	N	0.134	0.14905	-1.0010	0.29631	T	0.041	0.17657	T	10	0.0071870685	0.00163	T	.	.	.	0.054	0.15330	.	.	0.268660756437	0.26461	0.14885547693182344	0.14807	0.146048444311	0.16491	0.331832438707	0.15211	T	0.070263	0.33916	T	-0.530698	0.00380	T	-0.514138	0.20891	T	0.003796283524488	0.00040	T	0.834017	0.50983	T	0.01461896	0.00101	0.026975624	0.00819	0.018808953	0.00403	0.028544946	0.01099	-8.403	0.64237	D	0.1050717186731348	0.08288	0.097	0.28348	B	.;.;.;.;.	.;.;.;.;.	2.102873	0.26757	17.23	0.90117148773238731	0.19398	0.68994	0.34014	D	AEFDBIJ	0.165861	0.29240	N	-0.825552417871028	0.12659	0.6184846	-0.688407324566909	0.17250	0.916387	0.0558207521864077	0.15031	0.719381	0.83141	0	0.702456	0.74545	0	0.723133	0.82415	0	0.714379	0.83352	0	.	.	5.3	1.37	0.21200	2.767000	0.47321	2.119000	0.30708	-0.113000	0.14837	0.995000	0.38783	0.914000	0.28189	0.796000	0.37562	0.5083:0.0:0.4917:0.0	7.055	0.24272	826	0.39940	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	0.013595	0.010101	0.008152	0.011696	0.050000	0.008621	0.024390	0.015152	0.05	805.43	58	chr10	98431242	.	G	A	805.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.285;DP=405;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.89;ReadPosRankSum=-0.218;SOR=0.568	GT:AD:DP:GQ:PL	0/1:29,29:58:99:817,0,795	9	0	1	0
chr10	103418623	103418623	G	A	exonic	PDCD11	.	nonsynonymous SNV	PDCD11:NM_014976:exon15:c.G2095A:p.E699K	.	434	1083	5	0	0	5	0.00230309	.	.	.	2809590	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.110	0.00567701562311	0.0051	0.00219649	0.0052	0.0012	0.0014	0	0.0094	0.0073	0.0068	0.0027	0.0052651	814	154602	rs61751510	0.0064	0.0064	0.0064	0.0065	0.0072	0.0063	0.0063	0.0070	0.0070	0.0011	0.0018	0.0061	2.519e-05	0.0097	0.0017	0.0072	0.0059	0.0028	0.0054	0.0054	0.0055	0.0054	0.0080	0.0051	0.0050	0.0074	0.0072	0.0013	0.0121	0.0044	0.0078	0	0.0101	0	0.0080	0.0043	0.0019	0.609	0.05485	T	0.969	0.02490	T	0.023	0.18885	B	0.004	0.10090	B	0.013181	0.28922	N	0.432766	0.999997	0.08975	N	0.805	0.20218	L	3.07	0.08547	T	-0.13	0.08971	N	0.238	0.26837	-0.9470	0.41481	T	0.009	0.03096	T	10	0.0046842396	0.00098	T	0.005677	0.14712	T	0.110	0.31079	.	.	0.276898752692	0.27294	0.3493792830154974	0.34851	0.23519781941	0.26047	0.367246687412	0.20436	T	0.004399	0.03807	T	-0.496495	0.00598	T	-0.478138	0.24643	T	0.014170967594497	0.00278	T	0.786321	0.42483	T	0.049959395	0.08952	0.068914	0.14454	0.049959395	0.08951	0.068914	0.14454	-1.833	0.02609	T	.	.	0.087	0.11414	B	.;.	.;.	2.201273	0.28072	17.68	0.90189537334256509	0.19465	0.78823	0.38949	D	AEFBCI	0.070361	0.13965	N	-0.537298051942192	0.20883	1.104244	-0.380237144622544	0.25587	1.408014	0.998068249172889	0.36380	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.92	5.02	0.66742	3.538000	0.53352	7.421000	0.58716	0.662000	0.56354	1.000000	0.71638	1.000000	0.68203	0.169000	0.20946	0.1413:0.0:0.8587:0.0	10.697	0.45104	219	0.91485	.;S1 domain|RNA-binding domain, S1	.	.	.	.	rs61751510	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.003021	0.000000	0.001359	0.011696	0.000000	0.000000	0.000000	0.003788	0.05	2191.43	169	chr10	103418623	.	G	A	2191.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.72;DP=506;ExcessHet=0;FS=4.946;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.97;ReadPosRankSum=-0.473;SOR=0.407	GT:AD:DP:GQ:PL	0/1:93,76:169:99:2203,0,2578	9	0	1	0
chr10	113581936	113581936	C	G	exonic	HABP2	.	nonsynonymous SNV	HABP2:NM_001177660:exon9:c.C821G:p.S274C,HABP2:NM_004132:exon9:c.C899G:p.S300C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.334	0.100950953564	.	.	.	.	.	.	.	.	.	.	.	.	.	rs141394312	6.841e-07	6.84e-07	0	1.375e-06	2.987e-05	0	0	.	.	2.987e-05	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.022	0.48642	D	0.016	0.64786	D	0.966	0.56202	D	0.502	0.47702	P	0.024218	0.26302	N	0.436150	1	0.81001	D	1.625	0.41611	L	-3.18	0.93111	D	-2.22	0.50337	N	0.377	0.42345	0.654	0.92595	D	0.773	0.92273	D	10	0.42085943	0.56853	T	0.100951	0.77354	D	0.334	0.65620	0.396	0.42262	0.80738892488	0.80558	0.490733236802054	0.48993	0.0254376419855	0.02595	0.345675230026	0.17283	T	0.058332	0.30813	T	0.0652001	0.60259	T	-0.144121	0.59759	T	0.880975127220154	0.53101	D	0.69603	0.30552	T	0.13781139	0.31896	0.10578377	0.25437	0.13781139	0.31896	0.10578377	0.25436	-8.314	0.63190	D	.	.	0.225	0.46073	B	.;.	.;.	2.779743	0.36511	20.3	0.98625604425919278	0.43839	0.78156	0.38518	D	AEFDBI	0.888068	0.82084	D	0.0124973316420304	0.42423	2.555796	-0.0817904961799284	0.36142	2.099658	0.828903144242425	0.24657	0.487112	0.14033	0	0.59043	0.45803	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	6.17	5.27	0.73797	1.825000	0.38720	2.756000	0.34570	0.599000	0.40250	0.088000	0.22533	0.463000	0.25012	0.125000	0.19370	0.0:0.9311:0.0:0.0689	14.192	0.65187	890	0.26919	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	2447.43	147	chr10	113581936	.	C	G	2447.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.829;DP=465;ExcessHet=0;FS=1.323;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=16.65;ReadPosRankSum=0.375;SOR=0.598	GT:AD:DP:GQ:PL	0/1:60,87:147:99:2459,0,1567	9	0	1	0
chr10	117341050	117341050	C	T	exonic	PDZD8	.	nonsynonymous SNV	PDZD8:NM_173791:exon2:c.G925A:p.E309K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.304	0.111422988151	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08	0.33585	T	0.284	0.21411	T	0.104	0.25941	B	0.024	0.20255	B	0.100580	0.19880	N	0.530412	0.918501	0.36608	D	1.04	0.26193	L	-1.98	0.85247	D	-0.39	0.13611	N	0.56	0.58458	-0.3391	0.73870	T	0.434	0.77478	T	10	0.2526929	0.42627	T	0.111423	0.78920	D	0.304	0.62510	0.426	0.47185	0.406687239423	0.40287	0.3484412965450981	0.34758	0.878990842918	0.69697	0.551437139511	0.46060	T	0.004486	0.03887	T	0.0534098	0.58780	T	-0.161057	0.58257	T	0.401935211681401	0.29015	T	0.631737	0.24648	T	0.12929	0.30201	0.1091909	0.26311	0.12929	0.30201	0.1091909	0.26311	-4.196	0.26694	T	.	.	0.138	0.30103	B	.	.	2.876239	0.38048	20.6	0.99707916019332055	0.81143	0.81768	0.41106	D	AEFBI	0.402723	0.47670	N	-0.00176634886459942	0.41776	2.504867	0.196643706894966	0.49661	3.166775	0.999999995606444	0.74766	0.706298	0.61202	0	0.708844	0.79440	0	0.688494	0.62686	0	0.613276	0.41899	0	.	.	5.68	5.68	0.88021	2.759000	0.47253	7.612000	0.61951	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:1.0:0.0:0.0	15.630	0.76655	723	0.55174	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2857	1574.67	137	chr10	117341050	.	C	T	1574.67	.	AC=4;AF=0.286;AN=14;BaseQRankSum=-2.629;DP=814;ExcessHet=1.5895;FS=271.185;InbreedingCoeff=-0.3792;MLEAC=5;MLEAF=0.357;MQ=60;MQRankSum=0;QD=3.29;ReadPosRankSum=2.67;SOR=9.869	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:116,21:137:29:0|1:117341045_A_G:29,0,4319:117341045	3	0	4	3
chr10	119042564	119042564	G	A	exonic	EIF3A	.	nonsynonymous SNV	EIF3A:NM_003750:exon19:c.C2956T:p.R986W	.	419	1098	5	0	0	5	0.00227169	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.134	0.0341323498727	0.0002	0.00139776	0.0004	0.0003	0	0.0001	0	0.0001	0.0011	0.0019	0.0003558	55	154602	rs141034070	0.0002	0.0002	0.0002	0.0003	0.0018	0.0002	0.0002	0.0016	0.0015	5.974e-05	6.708e-05	0	0	0	0.0009	0.0002	0.0004	0.0018	0.0001	0.0001	0.0001	0.0002	0.0014	9.743e-05	8.257e-05	0.0007	0.0005	4.815e-05	0	0.0003	0	0.0002	0	0	0.0001	0	0.0014	0.001	0.78490	D	0.003	0.76473	D	0.999	0.77913	D	0.732	0.55359	P	0.002526	0.36389	N	0.000000	0.999991	0.58761	D	2.485	0.72352	M	1.77	0.26885	T	-2.15	0.58085	N	0.666	0.67477	-0.9456	0.41715	T	0.134	0.44798	T	10	0.014396191	0.00303	T	0.034132	0.55463	D	0.134	0.36365	.	.	0.324576393752	0.32066	0.24768130895775772	0.24682	1.42387211734	0.85668	0.64883518219	0.59821	T	0.040504	0.25549	T	-0.362936	0.03967	T	-0.301372	0.44580	T	0.164598350713293	0.18205	T	0.872913	0.58047	D	0.07432595	0.16673	0.10347316	0.24828	0.07432595	0.16672	0.10347316	0.24828	-11.406	0.81837	D	.	.	0.468	0.67369	A	.;.	.;.	4.058131	0.60201	24.2	0.99913525544672721	0.98238	0.92706	0.56347	D	AEFDBCI	0.722664	0.67252	D	0.432780873695907	0.63234	4.553216	0.403867746457139	0.61804	4.385942	0.999987371704914	0.51787	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.82	4.9	0.63643	2.635000	0.46203	1.832000	0.29123	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.870000	0.41412	0.0:0.0:0.5628:0.4372	13.106	0.58663	448	0.79501	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.05	2836.43	217	chr10	119042564	.	G	A	2836.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=5.18;DP=533;ExcessHet=0;FS=5.895;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.07;ReadPosRankSum=-0.072;SOR=1.097	GT:AD:DP:GQ:PL	0/1:121,96:217:99:2848,0,3127	9	0	1	0
chr10	119827431	119827431	C	T	exonic	INPP5F	.	nonsynonymous SNV	INPP5F:NM_001243194:exon6:c.C1220T:p.S407F,INPP5F:NM_014937:exon20:c.C3050T:p.S1017F	.	431	1090	0	1	0	2	0.00091659	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.071	0.0175248423373	.	.	8.237e-06	0	0	0	0	1.498e-05	0	0	6.5e-06	1	154602	rs777970109	3.42e-06	3.42e-06	2.722e-06	4.125e-06	0.0003	1e-06	7.3e-07	6.092e-05	2.521e-05	0	0	0	0	0	0.0003	8.993e-07	3.311e-05	0	6.569e-06	6.566e-06	1.284e-05	0	2.412e-05	0	0	.	.	2.412e-05	0	0	0	0	0	0	0	0	0	0.011	0.57480	D	0.049	0.50809	D	0.412	0.35138	B	0.133	0.33073	B	0.790419	0.09401	N	0.916757	1	0.08975	N	0.695	0.17993	N	1.1	0.47130	T	-1.56	0.43717	N	0.089	0.13198	-0.9566	0.39807	T	0.139	0.45772	T	10	0.09566903	0.17103	T	0.017525	0.39265	T	0.071	0.20720	0.236	0.16608	0.273938319068	0.27005	0.13915577995241998	0.13838	0.213140638837	0.23823	0.341394454241	0.16647	T	0.227659	0.59300	T	-0.221359	0.17809	T	-0.555744	0.16779	T	0.159881293773651	0.17863	T	0.865613	0.56501	D	0.07168597	0.15890	0.08938914	0.20900	0.07168597	0.15889	0.08938914	0.20899	-6.322	0.50333	T	.	.	0.088	0.28145	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	1.667125	0.21255	15.12	0.96249827783723874	0.29179	0.17940	0.20052	N	AEFDGBCI	0.187043	0.31434	N	-0.589859603097409	0.19252	1.006102	-0.635489808655507	0.18584	0.9933834	0.999497030135752	0.40007	0.67177	0.52595	0	0.702456	0.74545	0	0.697927	0.64325	0	0.711	0.71501	0	.	.	5.81	3.94	0.44807	2.088000	0.41287	1.444000	0.26551	-0.188000	0.09543	0.030000	0.20431	0.423000	0.24817	0.076000	0.17014	0.1337:0.6359:0.2304:0.0	11.988	0.52450	557	0.71576	.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	2350.43	260	chr10	119827431	.	C	T	2350.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.88;DP=626;ExcessHet=0;FS=3.615;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.04;ReadPosRankSum=-0.162;SOR=0.951	GT:AD:DP:GQ:PL	0/1:167,93:260:99:2362,0,4513	9	0	1	0
chr10	122216727	122216727	C	T	exonic	TACC2	.	nonsynonymous SNV	TACC2:NM_006997:exon5:c.C1679T:p.T560M,TACC2:NM_206860:exon5:c.C1679T:p.T560M,TACC2:NM_001291878:exon6:c.C1715T:p.T572M,TACC2:NM_001291879:exon7:c.C557T:p.T186M,TACC2:NM_206861:exon8:c.C1883T:p.T628M,TACC2:NM_001291876:exon10:c.C7310T:p.T2437M,TACC2:NM_001291877:exon10:c.C7457T:p.T2486M,TACC2:NM_206862:exon11:c.C7445T:p.T2482M	.	429	1071	21	1	0	23	0.0106236	.	.	.	2809684	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.190	.	0.0055	0.00259585	0.0066	0.0012	0.0037	0	0.0203	0.0084	0.0110	0.0027	0.0062742	970	154602	rs34944231	0.0063	0.0063	0.0064	0.0063	0.0172	0.0062	0.0062	0.0144	0.0134	0.0013	0.0049	0.0115	2.519e-05	0.0190	0.0172	0.0062	0.0071	0.0032	0.0056	0.0056	0.0052	0.0060	0.0085	0.0053	0.0051	0.0073	0.0069	0.0014	0	0.0085	0.0112	0	0.0168	0.0068	0.0060	0.0095	0.0021	0.0	0.91255	D	0.002	0.79402	D	1.0	0.90584	D	0.99	0.78936	D	0.002731	0.36034	N	0.000000	0.707636	0.39464	D	2.045	0.56016	M	3.82	0.20959	T	-3.12	0.82700	D	0.385	0.52119	-1.0425	0.16562	T	0.087	0.33606	T	10	0.008578092	0.00194	T	.	.	.	0.190	0.46781	.	.	0.74928862865	0.74702	0.3135585914688497	0.31268	0.506261591587	0.48838	0.395141631365	0.24391	T	0.254498	0.62516	T	-0.395171	0.02490	T	-0.335847	0.40814	T	0.0202739606712517	0.00727	T	0.980602	0.93511	D	0.17032468	0.37601	0.20229791	0.44251	0.17032468	0.37601	0.20229791	0.44250	-3.892	0.24639	T	.	.	0.108	0.23918	B	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	4.806375	0.78151	26.8	0.99906649515995816	0.97726	0.96615	0.70031	D	AEFDBI	0.557772	0.56726	D	0.670355751745337	0.77691	6.723674	0.694043590370746	0.81925	7.642314	0.999999723206218	0.74766	0.706548	0.73137	0	0.59043	0.45803	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.64	5.64	0.86480	5.395000	0.66037	.	.	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.963000	0.52385	0.0:1.0:0.0:0.0	19.719	0.96128	957	0.09725	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.009063	0.010101	0.009511	0.017544	0.000000	0.017241	0.009146	0.011364	0.15	5343.45	151	chr10	122216727	.	C	T	5343.45	.	AC=3;AF=0.15;AN=20;BaseQRankSum=0.441;DP=695;ExcessHet=0.7463;FS=1.107;InbreedingCoeff=-0.1765;MLEAC=3;MLEAF=0.15;MQ=60;MQRankSum=0;QD=12.17;ReadPosRankSum=-0.3;SOR=0.62	GT:AD:DP:GQ:PL	0/1:82,69:151:99:1992,0,2126	7	0	3	0
chr10	122415920	122415920	G	A	exonic	PLEKHA1	.	nonsynonymous SNV	PLEKHA1:NM_001377252:exon5:c.G386A:p.S129N,PLEKHA1:NM_001377253:exon6:c.G386A:p.S129N,PLEKHA1:NM_001377255:exon6:c.G386A:p.S129N,PLEKHA1:NM_001377257:exon6:c.G386A:p.S129N,PLEKHA1:NM_001001974:exon7:c.G530A:p.S177N,PLEKHA1:NM_001377237:exon7:c.G530A:p.S177N,PLEKHA1:NM_001377241:exon7:c.G530A:p.S177N,PLEKHA1:NM_001377245:exon7:c.G530A:p.S177N,PLEKHA1:NM_001377250:exon7:c.G521A:p.S174N,PLEKHA1:NM_001377254:exon7:c.G386A:p.S129N,PLEKHA1:NM_001377258:exon7:c.G530A:p.S177N,PLEKHA1:NM_001195608:exon8:c.G530A:p.S177N,PLEKHA1:NM_001330178:exon8:c.G530A:p.S177N,PLEKHA1:NM_001377230:exon8:c.G530A:p.S177N,PLEKHA1:NM_001377235:exon8:c.G530A:p.S177N,PLEKHA1:NM_001377238:exon8:c.G530A:p.S177N,PLEKHA1:NM_001377240:exon8:c.G530A:p.S177N,PLEKHA1:NM_001377244:exon8:c.G530A:p.S177N,PLEKHA1:NM_001377246:exon8:c.G530A:p.S177N,PLEKHA1:NM_001377247:exon8:c.G497A:p.S166N,PLEKHA1:NM_001377248:exon8:c.G530A:p.S177N,PLEKHA1:NM_001377249:exon8:c.G470A:p.S157N,PLEKHA1:NM_001377251:exon8:c.G497A:p.S166N,PLEKHA1:NM_001377256:exon8:c.G404A:p.S135N,PLEKHA1:NM_021622:exon8:c.G530A:p.S177N,PLEKHA1:NM_001377232:exon9:c.G530A:p.S177N,PLEKHA1:NM_001377234:exon9:c.G530A:p.S177N,PLEKHA1:NM_001377242:exon9:c.G530A:p.S177N,PLEKHA1:NM_001377243:exon9:c.G530A:p.S177N,PLEKHA1:NM_001377231:exon10:c.G530A:p.S177N	.	436	1063	23	0	0	23	0.0107027	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.117	0.00454835999098	0.0012	0.000599042	0.0017	0.0002	0.0006	0	0.0002	0.0019	0	0.0044	0.0015912	246	154602	rs142473166	0.0015	0.0015	0.0013	0.0017	0.0132	0.0015	0.0014	0.0108	0.0099	0.0004	0.0015	0.0064	2.522e-05	0.0001	0.0132	0.0013	0.0021	0.0040	0.0014	0.0014	0.0014	0.0013	0.0029	0.0012	0.0011	0.0019	0.0016	0.0002	0	0.0025	0.0066	0	0.0003	0.0136	0.0016	0.0024	0.0029	0.095	0.31682	T	0.176	0.29843	T	0.103	0.25884	B	0.038	0.23361	B	0.000000	0.84330	D	0.035879	0.999923	0.51308	D	1.965	0.53209	M	2.55	0.13795	T	-1.08	0.30140	N	0.263	0.39659	-1.1953	0.00188	T	0.062	0.25994	T	10	0.0063737035	0.00144	T	0.004548	0.11220	T	0.117	0.32689	.	.	0.270001397563	0.26616	0.36486402632052306	0.36400	0.47080475657	0.46347	0.578641235828	0.49895	T	0.28229	0.65502	T	-0.600382	0.00145	T	-0.63634	0.09938	T	0.0294323261235955	0.01903	T	0.822018	0.48145	T	0.25771642	0.48817	0.2700995	0.52898	0.25771642	0.48817	0.2700995	0.52897	-11.14	0.80420	D	.	.	0.111	0.37350	B	.;.;.;.;.	.;.;.;.;.	4.308203	0.65834	24.9	0.99474569122223877	0.66525	0.97002	0.72125	D	AEFBI	0.594723	0.58955	D	0.398909946604098	0.61365	4.336386	0.487086349996775	0.67133	5.043443	0.999999915797226	0.74766	0.706298	0.61202	0	0.670034	0.63936	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.66	5.66	0.87293	4.502000	0.60122	.	.	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:1.0:0.0	19.736	0.96203	939	0.14249	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.009063	0.005051	0.010870	0.017544	0.100000	0.000000	0.000000	0.007576	0.1	2956.14	119	chr10	122415920	.	G	A	2956.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=0.679;DP=486;ExcessHet=0.2348;FS=0.516;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=14.49;ReadPosRankSum=1.23;SOR=0.765	GT:AD:DP:GQ:PL	0/1:53,66:119:99:1759,0,1291	8	0	2	0
chr10	122618250	122618250	G	A	exonic	DMBT1	.	nonsynonymous SNV	DMBT1:NM_004406:exon25:c.G2854A:p.G952R,DMBT1:NM_017579:exon37:c.G4708A:p.G1570R,DMBT1:NM_001320644:exon38:c.G4738A:p.G1580R,DMBT1:NM_007329:exon38:c.G4738A:p.G1580R,DMBT1:NM_001377530:exon41:c.G5125A:p.G1709R	.	405	1115	2	0	0	2	0.000896057	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.595	0.0742374755268	0.0003	0.000399361	0.0009	0.0003	0.0002	0	0	0.0013	0	0.0011	0.0009185	142	154602	rs140113910	0.0016	0.0016	0.0016	0.0016	0.0019	0.0015	0.0015	0.0018	0.0018	0.0003	0.0002	0	0	3.745e-05	0.0002	0.0019	0.0009	0.0014	0.0010	0.0010	0.0011	0.0008	0.0017	0.0008	0.0008	0.0014	0.0013	0.0004	0	0.0010	0	0	0	0	0.0017	0.0005	0.0006	0.0	0.91255	D	0.04	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000004	0.00162	U	421.163000	0.999961	0.58761	D	4.285	0.98199	H	-0.63	0.72011	T	-6.95	0.94729	D	0.608	0.78451	-0.0614	0.80963	T	0.759	0.91788	D	10	0.49929845	0.61453	T	0.074237	0.71992	D	0.595	0.83911	0.859	0.95718	0.900273714063	0.89927	0.5654150715103655	0.56468	0.682008575651	0.60083	0.869971394539	0.92563	D	0.300608	0.67309	T	-0.0873842	0.38507	T	0.0955351	0.76612	D	0.248519388097806	0.22807	T	0.913909	0.70532	D	0.7084725	0.78523	0.73614126	0.84405	0.7084725	0.78525	0.73614126	0.84406	-10.857	0.79593	D	.	.	0.679	0.76714	P	.;.;.;.;.;.;.	.;.;.;.;.;.;.	3.402275	0.47155	22.4	0.99922545568531629	0.98852	0.98378	0.82168	D	AEFBI	0.935941	0.93154	D	0.771976124219107	0.84325	8.256797	0.580334968480344	0.73531	5.98569	0.999999999128934	0.74766	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.12	4.12	0.47504	7.544000	0.81063	.	.	0.575000	0.29119	1.000000	0.71638	1.000000	0.68203	0.051000	0.15275	0.0:0.0:1.0:0.0	16.823	0.85788	582	0.69555	.;.;.;.;SRCR domain|SRCR domain|SRCR-like domain;.;SRCR domain|SRCR domain|SRCR-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	.	.	.	.	.	.	.	.	0.05	3302.43	234	chr10	122618250	.	G	A	3302.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.29;DP=555;ExcessHet=0;FS=5.237;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=59.02;MQRankSum=0.529;QD=14.11;ReadPosRankSum=0.847;SOR=0.691	GT:AD:DP:GQ:PL	0/1:115,119:234:99:3314,0,3057	9	0	1	0
chr10	122983003	122983003	G	C	exonic	PSTK	.	nonsynonymous SNV	PSTK:NM_001363531:exon2:c.G487C:p.V163L,PSTK:NM_153336:exon2:c.G487C:p.V163L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2	483.18	158	chr10	122983003	.	G	C	483.18	.	AC=4;AF=0.2;AN=20;BaseQRankSum=-2.281;DP=1155;ExcessHet=1.5895;FS=162.564;InbreedingCoeff=-0.2647;MLEAC=4;MLEAF=0.2;MQ=60;MQRankSum=0;QD=1.06;ReadPosRankSum=0.937;SOR=10.312	GT:AD:DP:GQ:PL	0/1:91,42:158:62:62,0,1211	6	0	4	0
chr10	124989543	124989543	T	C	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon9:c.A1517G:p.N506S,CTBP2:NM_022802:exon9:c.A2933G:p.N978S,CTBP2:NM_001321013:exon10:c.A1313G:p.N438S,CTBP2:NM_001083914:exon11:c.A1313G:p.N438S,CTBP2:NM_001290214:exon11:c.A1313G:p.N438S,CTBP2:NM_001290215:exon11:c.A1313G:p.N438S,CTBP2:NM_001321012:exon11:c.A1313G:p.N438S,CTBP2:NM_001321014:exon11:c.A1313G:p.N438S,CTBP2:NM_001329:exon11:c.A1313G:p.N438S	.	430	785	300	7	0	314	0.166667	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.362	0.0412206901109	.	.	.	.	.	.	.	.	.	.	0.0011526	30	26028	rs75839774	4.107e-06	4.104e-06	5.449e-06	2.752e-06	4.497e-06	1.48e-06	9.7e-07	1.32e-06	9.6e-07	0	0	0	0	0	0	4.497e-06	1.658e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.048	0.61437	D	0.553	0.32461	T	0.017	0.35330	B	0.044	0.44683	B	0.040786	0.24019	N	0.433304	0.546531	0.31369	N	1.1	0.28011	L	-1.58	0.82806	D	-0.98	0.25986	N	0.097	0.39153	-0.2662	0.75916	T	0.330	0.69766	T	10	0.12751639	0.24250	T	0.041221	0.59806	D	0.362	0.68230	0.075	0.00517	0.760080849401	0.75790	0.26369227103169535	0.26282	1.68067603589	0.89969	0.448414385319	0.31727	T	0.157679	0.50038	T	0.0363132	0.56560	T	-0.185615	0.55999	T	0.436808287713247	0.30312	T	0.90311	0.67973	D	0.08655811	0.20123	0.08484771	0.19547	0.08655811	0.20122	0.08484771	0.19547	-2.304	0.04577	T	.	.	0.070	0.03588	B	.;.;.;.;.;.	.;.;.;.;.;.	2.477890	0.31950	18.89	0.9913628706847909	0.53410	0.86806	0.46168	D	AEFDGBCI	0.540087	0.55679	D	-0.275999058280499	0.30077	1.67381	-0.0903501737703044	0.35788	2.074695	0.999999280419097	0.74766	0.722319	0.85440	0	0.00446	0.00028	3	0.702456	0.68683	0	0.735409	0.98432	0	.	.	5.12	3.98	0.45383	2.629000	0.46152	0.448000	0.18493	0.665000	0.62972	1.000000	0.71638	0.999000	0.35428	1.000000	0.97212	0.0:0.0728:0.0:0.9272	11.061	0.47165	940	0.13648	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.45	8292.02	133	chr10	124989543	.	T	C	8292.02	.	AC=9;AF=0.45;AN=20;BaseQRankSum=-2.997;DP=1182;ExcessHet=15.1594;FS=11.175;InbreedingCoeff=-0.8182;MLEAC=9;MLEAF=0.45;MQ=50.01;MQRankSum=-8.13;QD=7.76;ReadPosRankSum=0.874;SOR=0.241	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:104,29:133:99:0|1:124989533_G_A:781,0,4172:124989533	1	0	9	0
chr10	124989565	124989565	G	-	exonic	CTBP2	.	frameshift deletion	CTBP2:NM_001363508:exon9:c.1495delC:p.Q499Sfs*36,CTBP2:NM_022802:exon9:c.2911delC:p.Q971Sfs*36,CTBP2:NM_001321013:exon10:c.1291delC:p.Q431Sfs*36,CTBP2:NM_001083914:exon11:c.1291delC:p.Q431Sfs*36,CTBP2:NM_001290214:exon11:c.1291delC:p.Q431Sfs*36,CTBP2:NM_001290215:exon11:c.1291delC:p.Q431Sfs*36,CTBP2:NM_001321012:exon11:c.1291delC:p.Q431Sfs*36,CTBP2:NM_001321014:exon11:c.1291delC:p.Q431Sfs*36,CTBP2:NM_001329:exon11:c.1291delC:p.Q431Sfs*36	.	440	850	230	2	0	234	0.120993	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001537	4	26028	rs146097043	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.45	4284.98	127	chr10	124989564	.	TG	T	4284.98	.	AC=9;AF=0.45;AN=20;BaseQRankSum=-3.961;DP=1243;ExcessHet=15.1594;FS=12.6;InbreedingCoeff=-0.8182;MLEAC=9;MLEAF=0.45;MQ=52;MQRankSum=-7.935;QD=3.92;ReadPosRankSum=-1.956;SOR=0.21	GT:AD:DP:GQ:PL	0/1:105,22:127:99:440,0,3532	1	0	9	0
chr10	124994489	124994489	T	G	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon5:c.A964C:p.N322H,CTBP2:NM_022802:exon5:c.A2380C:p.N794H,CTBP2:NM_001321013:exon6:c.A760C:p.N254H,CTBP2:NM_001083914:exon7:c.A760C:p.N254H,CTBP2:NM_001290214:exon7:c.A760C:p.N254H,CTBP2:NM_001290215:exon7:c.A760C:p.N254H,CTBP2:NM_001321012:exon7:c.A760C:p.N254H,CTBP2:NM_001321014:exon7:c.A760C:p.N254H,CTBP2:NM_001329:exon7:c.A760C:p.N254H	.	425	876	218	3	0	224	0.11336	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.855	0.287995004976	.	.	.	.	.	.	.	.	.	.	.	.	.	rs913075834	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.044	0.53900	D	0.014	0.69154	D	1.0	0.90584	D	0.995	0.84481	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.03	0.86425	M	-1.64	0.82533	D	-4.7	0.80510	D	0.955	0.96416	0.598	0.91868	D	0.722	0.90485	D	10	0.93609107	0.92939	D	0.287995	0.90464	D	0.855	0.95544	0.749	0.87988	0.908261012674	0.90733	0.9221523146368497	0.92192	2.0305426451	0.94091	0.826209723949	0.85982	D	0.743281	0.92907	D	0.230793	0.76796	D	0.0937411	0.76494	D	0.996190285808554	0.88852	D	0.970303	0.89317	D	0.91641486	0.92901	0.8315015	0.90282	0.91641486	0.92902	0.8315015	0.90283	-11.706	0.83405	D	.	.	0.818	0.83534	P	.;.;.;.;.;.	.;.;.;.;.;.	4.739043	0.76411	26.5	0.99694374199735813	0.80180	0.94484	0.61314	D	AEFDGBCI	0.936668	0.93334	D	0.798915340390827	0.86037	8.759083	0.761626191030682	0.87022	9.081087	0.999999999999979	0.74766	0.722319	0.85440	0	0.550933	0.16991	0	0.67197	0.60751	0	0.735409	0.98432	0	.	.	5.36	5.36	0.76624	7.674000	0.83146	7.884000	0.72673	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:0.0:1.0	15.357	0.74148	942	0.12992	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;.;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	4849.02	142	chr10	124994489	.	T	G	4849.02	.	AC=10;AF=0.5;AN=20;BaseQRankSum=2.87;DP=1577;ExcessHet=22.563;FS=32.626;InbreedingCoeff=-0.998;MLEAC=10;MLEAF=0.5;MQ=58.54;MQRankSum=-5.718;QD=3.23;ReadPosRankSum=-4.421;SOR=3.384	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:119,23:142:99:0|1:124994489_T_G:608,0,4867:124994489	0	0	10	0
chr10	124994501	124994501	G	A	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon5:c.C952T:p.H318Y,CTBP2:NM_022802:exon5:c.C2368T:p.H790Y,CTBP2:NM_001321013:exon6:c.C748T:p.H250Y,CTBP2:NM_001083914:exon7:c.C748T:p.H250Y,CTBP2:NM_001290214:exon7:c.C748T:p.H250Y,CTBP2:NM_001290215:exon7:c.C748T:p.H250Y,CTBP2:NM_001321012:exon7:c.C748T:p.H250Y,CTBP2:NM_001321014:exon7:c.C748T:p.H250Y,CTBP2:NM_001329:exon7:c.C748T:p.H250Y	.	426	821	272	3	0	278	0.144792	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.771	0.0948171006631	.	.	.	.	.	.	.	.	.	.	.	.	.	rs978705792	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.103	0.42487	T	0.297	0.31125	T	0.868	0.47740	P	0.617	0.54186	P	0.000000	0.84330	D	0.000000	1	0.81001	D	0.11	0.08516	N	-1.36	0.80125	T	-5.44	0.85541	D	0.915	0.92084	-0.1289	0.79427	T	0.435	0.77536	T	10	0.7908057	0.78643	D	0.094817	0.76319	D	0.771	0.92294	0.486	0.56939	0.919217431084	0.91840	0.9252807218489828	0.92505	1.25117579951	0.81802	0.887714266777	0.94973	D	0.545829	0.84532	D	0.352326	0.86659	D	0.268315	0.86483	D	0.94890558719635	0.62996	D	0.972303	0.89961	D	0.826035	0.85629	0.7361207	0.84404	0.826035	0.85631	0.7361207	0.84405	-9.649	0.71784	D	.	.	0.781	0.76420	P	.;.;.;.;.;.	.;.;.;.;.;.	4.665783	0.74522	26.2	0.99760421591352766	0.85011	0.95027	0.63172	D	AEFDGBCI	0.931287	0.91988	D	0.465501566800638	0.65087	4.778689	0.565123419115292	0.72454	5.812716	1.0	0.98316	0.722319	0.85440	0	0.550933	0.16991	0	0.67197	0.60751	0	0.735409	0.98432	0	.	.	5.21	5.21	0.72005	7.771000	0.84203	11.823000	0.97298	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	18.767	0.91839	942	0.12992	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;.;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	6034.04	150	chr10	124994501	.	G	A	6034.04	.	AC=10;AF=0.5;AN=20;BaseQRankSum=0.21;DP=1649;ExcessHet=22.563;FS=38.022;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=58.03;MQRankSum=-5.929;QD=3.89;ReadPosRankSum=-3.325;SOR=3.619	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:124,26:150:99:0|1:124994489_T_G:717,0,5032:124994489	0	0	10	0
chr10	124994505	124994505	A	T	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon5:c.T948A:p.H316Q,CTBP2:NM_022802:exon5:c.T2364A:p.H788Q,CTBP2:NM_001321013:exon6:c.T744A:p.H248Q,CTBP2:NM_001083914:exon7:c.T744A:p.H248Q,CTBP2:NM_001290214:exon7:c.T744A:p.H248Q,CTBP2:NM_001290215:exon7:c.T744A:p.H248Q,CTBP2:NM_001321012:exon7:c.T744A:p.H248Q,CTBP2:NM_001321014:exon7:c.T744A:p.H248Q,CTBP2:NM_001329:exon7:c.T744A:p.H248Q	.	423	816	278	5	0	288	0.15	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.476	0.0731369313184	.	.	.	.	.	.	.	.	.	.	.	.	.	rs937366751	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	0.46513	D	0.259	0.44702	T	0.682	0.41464	P	0.219	0.43945	B	0.000000	0.84330	D	0.000000	0.999904	0.50806	D	-0.715	0.01801	N	-1.26	0.79176	T	-6.79	0.93135	D	0.687	0.70000	-0.8006	0.55109	T	0.184	0.53255	T	10	0.5356107	0.63429	D	0.073137	0.71713	D	0.476	0.76816	0.447	0.50629	0.947376611969	0.94682	0.8013614072212495	0.80090	0.902566627065	0.70693	0.888023793697	0.95012	D	0.559992	0.85254	D	0.155552	0.69787	D	-0.0143363	0.69401	D	0.887895047664642	0.53844	D	0.743426	0.36288	T	0.90044665	0.91423	0.7164848	0.83265	0.90044665	0.91424	0.7164848	0.83266	-12.552	0.89160	D	.	.	0.886	0.85521	P	.;.;.;.;.;.	.;.;.;.;.;.	3.763339	0.54010	23.4	0.97895156658106663	0.36704	0.72838	0.35639	D	AEFDGBCI	0.464485	0.51296	N	-0.261912955812249	0.30631	1.70973	-0.146100228405978	0.33558	1.920874	0.999999244525417	0.74766	0.722319	0.85440	0	0.550933	0.16991	0	0.67197	0.60751	0	0.735409	0.98432	0	.	.	5.21	1.37	0.21200	1.883000	0.39293	2.678000	0.33996	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.989000	0.64315	0.5559:0.0:0.4441:0.0	8.31	0.31226	942	0.12992	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;.;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	6176.04	150	chr10	124994505	.	A	T	6176.04	.	AC=10;AF=0.5;AN=20;BaseQRankSum=2.17;DP=1668;ExcessHet=22.563;FS=40.71;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=57.93;MQRankSum=-5.733;QD=4.01;ReadPosRankSum=-2.482;SOR=3.668	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:124,26:150:99:0|1:124994489_T_G:717,0,4991:124994489	0	0	10	0
chr10	124994530	124994530	G	A	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon5:c.C923T:p.S308F,CTBP2:NM_022802:exon5:c.C2339T:p.S780F,CTBP2:NM_001321013:exon6:c.C719T:p.S240F,CTBP2:NM_001083914:exon7:c.C719T:p.S240F,CTBP2:NM_001290214:exon7:c.C719T:p.S240F,CTBP2:NM_001290215:exon7:c.C719T:p.S240F,CTBP2:NM_001321012:exon7:c.C719T:p.S240F,CTBP2:NM_001321014:exon7:c.C719T:p.S240F,CTBP2:NM_001329:exon7:c.C719T:p.S240F	.	421	688	403	10	0	423	0.235131	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.938	0.47632593724	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs374871777	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.033	0.59928	D	0.001	0.83351	D	1.0	0.90584	D	0.993	0.83170	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.465	0.71551	M	-1.61	0.82254	D	-5.08	0.82896	D	0.976	0.98657	0.694	0.93099	D	0.759	0.91795	D	10	0.9291788	0.92260	D	0.476326	0.94766	D	0.938	0.98636	0.718	0.85319	0.963037453765	0.96263	0.9856555258906051	0.98558	2.08621322631	0.94675	0.860175311565	0.91136	D	0.733508	0.92560	D	0.422049	0.91127	D	0.368468	0.91016	D	0.994980752468109	0.86633	D	0.836416	0.50788	T	0.98504084	0.99469	0.92532665	0.96770	0.98504084	0.99469	0.92532665	0.96771	-14.995	0.96879	D	.	.	0.993	0.95154	P	.;.;.;.;.;.	.;.;.;.;.;.	5.187974	0.87005	29.1	0.99852028210273314	0.93102	0.95134	0.63563	D	AEFDGBCI	0.931287	0.91988	D	0.925236055449727	0.92941	11.72177	0.873600535312142	0.94317	12.66702	1.0	0.98316	0.722319	0.85440	0	0.550933	0.16991	0	0.67197	0.60751	0	0.735409	0.98432	0	.	.	5.21	5.21	0.72005	9.602000	0.97623	11.823000	0.97298	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:1.0:0.0	18.767	0.91839	942	0.12992	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;.;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	8820.04	174	chr10	124994530	.	G	A	8820.04	.	AC=10;AF=0.5;AN=20;BaseQRankSum=-0.599;DP=1823;ExcessHet=22.563;FS=63.896;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=57.45;MQRankSum=-4.587;QD=5.36;ReadPosRankSum=1.32;SOR=4.359	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:138,36:174:99:0|1:124994523_G_A:980,0,5456:124994523	0	0	10	0
chr10	124994542	124994542	C	T	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon5:c.G911A:p.S304N,CTBP2:NM_022802:exon5:c.G2327A:p.S776N,CTBP2:NM_001321013:exon6:c.G707A:p.S236N,CTBP2:NM_001083914:exon7:c.G707A:p.S236N,CTBP2:NM_001290214:exon7:c.G707A:p.S236N,CTBP2:NM_001290215:exon7:c.G707A:p.S236N,CTBP2:NM_001321012:exon7:c.G707A:p.S236N,CTBP2:NM_001321014:exon7:c.G707A:p.S236N,CTBP2:NM_001329:exon7:c.G707A:p.S236N	.	418	797	293	14	0	321	0.167624	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.881	0.520636706354	.	.	.	.	.	.	.	.	.	.	7.68e-05	2	26028	rs78155918	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.91255	D	0.004	0.79402	D	0.994	0.66517	D	0.972	0.72692	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.19	0.88972	M	-1.86	0.84341	D	-2.9	0.61580	D	0.951	0.95956	0.923	0.96008	D	0.835	0.94461	D	10	0.96767014	0.96284	D	0.520637	0.95441	D	0.881	0.96502	0.859	0.95718	0.8508886717	0.84945	0.9945051231415541	0.99447	1.72531923595	0.90642	0.895219087601	0.95893	D	0.849948	0.96576	D	0.195726	0.73494	D	0.04337	0.73148	D	0.993175552752073	0.83871	D	0.98969	0.96662	D	0.9860643	0.99535	0.9414922	0.97865	0.9860643	0.99535	0.9414922	0.97866	-14.163	0.96648	D	.	.	0.990	0.93538	P	.;.;.;.;.;.	.;.;.;.;.;.	4.768549	0.77163	26.6	0.99793032458852304	0.87839	0.92617	0.56134	D	AEFDGBCI	0.921115	0.89410	D	0.951529578297244	0.94047	12.46209	0.869409228877299	0.94098	12.50256	1.0	0.98316	0.722319	0.85440	0	0.550933	0.16991	0	0.67197	0.60751	0	0.735409	0.98432	0	.	.	5.21	5.21	0.72005	7.568000	0.81546	7.667000	0.64568	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.979000	0.57723	0.0:1.0:0.0:0.0	18.767	0.91839	942	0.12992	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;.;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	4694.8	180	chr10	124994542	.	C	T	4694.8	.	AC=9;AF=0.5;AN=18;BaseQRankSum=-1.796;DP=1829;ExcessHet=15.1594;FS=59.93;InbreedingCoeff=-0.9048;MLEAC=9;MLEAF=0.5;MQ=57.08;MQRankSum=-4.748;QD=3.27;ReadPosRankSum=2.87;SOR=4.447	GT:AD:DP:GQ:PL	0/1:145,35:180:99:457,0,4228	0	0	9	1
chr10	124994563	124994563	A	T	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon5:c.T890A:p.L297Q,CTBP2:NM_022802:exon5:c.T2306A:p.L769Q,CTBP2:NM_001321013:exon6:c.T686A:p.L229Q,CTBP2:NM_001083914:exon7:c.T686A:p.L229Q,CTBP2:NM_001290214:exon7:c.T686A:p.L229Q,CTBP2:NM_001290215:exon7:c.T686A:p.L229Q,CTBP2:NM_001321012:exon7:c.T686A:p.L229Q,CTBP2:NM_001321014:exon7:c.T686A:p.L229Q,CTBP2:NM_001329:exon7:c.T686A:p.L229Q	.	408	769	327	18	0	363	0.190952	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.960	0.547155886187	.	.	.	.	.	.	.	.	.	.	7.68e-05	2	26028	rs150320719	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.017	0.83351	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	0.999999	0.81001	D	2.835	0.82492	M	-1.85	0.84267	D	-5.78	0.88699	D	0.932	0.93841	0.754	0.93845	D	0.782	0.92582	D	10	0.9727028	0.96922	D	0.547156	0.95809	D	0.960	0.99376	0.857	0.95604	0.951774941741	0.95126	0.9701566259621512	0.97004	2.04308220201	0.94282	0.848910570145	0.89450	D	0.853663	0.96692	D	0.45783	0.92829	D	0.419864	0.92740	D	0.999412894248962	0.97310	D	0.830117	0.49576	T	0.9576254	0.97040	0.9405844	0.97806	0.9576254	0.97041	0.9405844	0.97806	-13.719	0.92108	D	.	.	0.992	0.94272	P	.;.;.;.;.;.	.;.;.;.;.;.	5.061375	0.84364	28.3	0.99631799569558666	0.76081	0.94544	0.61510	D	AEFDGBCI	0.948042	0.95924	D	0.879361810884359	0.90712	10.53043	0.831570877214738	0.91895	11.12529	0.999999999999983	0.74766	0.722319	0.85440	0	0.550933	0.16991	0	0.67197	0.60751	0	0.735409	0.98432	0	.	.	5.42	5.42	0.78666	8.947000	0.92735	11.208000	0.89295	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	1.0:0.0:0.0:0.0	15.466	0.75135	942	0.12992	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;.;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.45	4755.02	191	chr10	124994563	.	A	T	4755.02	.	AC=9;AF=0.45;AN=20;BaseQRankSum=-2.391;DP=1867;ExcessHet=15.1594;FS=69.308;InbreedingCoeff=-0.8182;MLEAC=9;MLEAF=0.45;MQ=57.08;MQRankSum=-4.998;QD=3.27;ReadPosRankSum=3.5;SOR=4.822	GT:AD:DP:GQ:PL	0/1:154,37:191:99:395,0,4528	1	0	9	0
chr10	124994577	124994577	C	A	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon5:c.G876T:p.Q292H,CTBP2:NM_022802:exon5:c.G2292T:p.Q764H,CTBP2:NM_001321013:exon6:c.G672T:p.Q224H,CTBP2:NM_001083914:exon7:c.G672T:p.Q224H,CTBP2:NM_001290214:exon7:c.G672T:p.Q224H,CTBP2:NM_001290215:exon7:c.G672T:p.Q224H,CTBP2:NM_001321012:exon7:c.G672T:p.Q224H,CTBP2:NM_001321014:exon7:c.G672T:p.Q224H,CTBP2:NM_001329:exon7:c.G672T:p.Q224H	.	408	580	516	18	0	552	0.32243	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.696	0.0892909269972	.	.	.	.	.	.	.	.	.	.	0.0001153	3	26028	rs80025996	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	0.63226	D	0.087	0.69154	T	0.964	0.68779	D	0.898	0.69447	P	0.000000	0.84330	D	0.000000	0.999957	0.58761	D	0.49	0.13296	N	-1.71	0.83815	D	-3.39	0.66896	D	0.743	0.76111	0.130	0.84714	D	0.526	0.82375	D	10	0.69303375	0.71973	D	0.089291	0.75298	D	0.696	0.89007	0.404	0.43573	0.949204094444	0.94866	0.8408413105034186	0.84044	1.71814521226	0.90529	0.835075438023	0.87341	D	0.524087	0.83410	D	0.323687	0.84732	D	0.227177	0.84532	D	0.984627544879913	0.75871	D	0.969203	0.88895	D	0.8669297	0.88620	0.72212815	0.83591	0.8669297	0.88622	0.72212815	0.83592	-9.982	0.77738	D	.	.	0.579	0.68002	P	.;.;.;.;.;.	.;.;.;.;.;.	4.008335	0.59116	24.1	0.99735057696966967	0.83047	0.87870	0.47561	D	AEFDGBCI	0.735142	0.68105	D	0.394708730247093	0.61135	4.310599	0.421330055103997	0.62895	4.513037	0.999999999997443	0.74766	0.722319	0.85440	0	0.550933	0.16991	0	0.67197	0.60751	0	0.735409	0.98432	0	.	.	5.42	4.51	0.54589	3.891000	0.55940	4.055000	0.41540	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.9224:0.0:0.0776	13.270	0.59589	942	0.12992	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;.;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	12161.0	190	chr10	124994577	.	C	A	12161.0	.	AC=10;AF=0.5;AN=20;BaseQRankSum=-3.833;DP=1897;ExcessHet=22.563;FS=80.112;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=57.03;MQRankSum=-5.452;QD=7.18;ReadPosRankSum=2.73;SOR=4.803	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:150,40:190:99:0|1:124994577_C_A:1177,0,6080:124994577	0	0	10	0
chr10	124998077	124998077	C	G	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon4:c.G656C:p.W219S,CTBP2:NM_022802:exon4:c.G2072C:p.W691S,CTBP2:NM_001321013:exon5:c.G452C:p.W151S,CTBP2:NM_001083914:exon6:c.G452C:p.W151S,CTBP2:NM_001290214:exon6:c.G452C:p.W151S,CTBP2:NM_001290215:exon6:c.G452C:p.W151S,CTBP2:NM_001321012:exon6:c.G452C:p.W151S,CTBP2:NM_001321014:exon6:c.G452C:p.W151S,CTBP2:NM_001329:exon6:c.G452C:p.W151S	.	411	908	195	8	0	211	0.104095	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.729	0.132665301415	.	.	.	.	.	.	.	.	.	.	.	.	.	rs921417861	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.039	0.49613	D	0.251	0.48855	T	0.932	0.67487	P	0.903	0.72692	P	0.000000	0.84330	D	0.000000	1	0.81001	D	0.73	0.18813	N	-1.24	0.78967	T	-13.16	0.99944	D	0.816	0.82660	0.015	0.82548	D	0.436	0.77612	T	10	0.8384273	0.82996	D	0.132665	0.81500	D	0.729	0.90501	0.42	0.46200	0.916186859433	0.91534	0.939893042578689	0.93970	2.15981024662	0.95367	0.902819037437	0.96746	D	0.566519	0.85577	D	0.361391	0.87361	D	0.281337	0.87198	D	0.999315857887268	0.96929	D	0.787421	0.42665	T	0.9529722	0.96568	0.9167839	0.96171	0.9529722	0.96569	0.9167839	0.96171	-13.048	0.91030	D	.	.	0.987	0.92737	P	.;.;.;.;.;.	.;.;.;.;.;.	5.895887	0.93981	33	0.99155191442297097	0.53931	0.92847	0.56691	D	AEFDGBCI	0.944592	0.95186	D	0.526305507094081	0.68652	5.246556	0.569067646848623	0.72734	5.856765	0.999999999999998	0.74766	0.67177	0.52595	0	0.550933	0.16991	0	0.697927	0.64325	0	0.711	0.71501	0	.	.	4.73	4.73	0.59485	7.565000	0.81337	5.908000	0.50981	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.965000	0.52897	0.0:1.0:0.0:0.0	18.072	0.89338	928	0.17405	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;.;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3571	1004.29	183	chr10	124998077	.	C	G	1004.29	.	AC=5;AF=0.357;AN=14;BaseQRankSum=-1.613;DP=1900;ExcessHet=2.8389;FS=16.906;InbreedingCoeff=-0.4814;MLEAC=6;MLEAF=0.429;MQ=58.73;MQRankSum=-8.775;QD=1.13;ReadPosRankSum=0.514;SOR=2.881	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:170,13:183:34:0|1:124998077_C_G:34,0,7079:124998077	2	0	5	3
chr10	124998080	124998080	G	C	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon4:c.C653G:p.T218R,CTBP2:NM_022802:exon4:c.C2069G:p.T690R,CTBP2:NM_001321013:exon5:c.C449G:p.T150R,CTBP2:NM_001083914:exon6:c.C449G:p.T150R,CTBP2:NM_001290214:exon6:c.C449G:p.T150R,CTBP2:NM_001290215:exon6:c.C449G:p.T150R,CTBP2:NM_001321012:exon6:c.C449G:p.T150R,CTBP2:NM_001321014:exon6:c.C449G:p.T150R,CTBP2:NM_001329:exon6:c.C449G:p.T150R	.	411	907	195	9	0	213	0.105081	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.679	0.0475041477189	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.297	0.53900	T	0.336	0.34124	T	0.999	0.90584	D	0.989	0.81110	D	0.000000	0.84330	D	0.000000	1	0.81001	D	0.54	0.13725	N	-1.31	0.79666	T	-3.5	0.68298	D	0.928	0.95139	0.036	0.82969	D	0.482	0.80205	T	10	0.8320574	0.82367	D	0.047504	0.62952	D	0.679	0.88205	0.598	0.72862	0.765312620283	0.76316	0.9505245979181556	0.95036	2.12633044952	0.95074	0.794296979904	0.81096	T	0.503085	0.82273	D	0.222721	0.76033	D	0.0821472	0.75720	D	0.938564615564625	0.60928	D	0.79772	0.44184	T	0.9565074	0.96926	0.8445915	0.91143	0.9565074	0.96926	0.8445915	0.91143	-16.429	0.98336	D	.	.	0.949	0.86814	P	.;.;.;.;.;.	.;.;.;.;.;.	5.668071	0.92919	33	0.99401680195169373	0.62841	0.95078	0.63357	D	AEFDGBCI	0.948544	0.96027	D	0.585474125636482	0.72268	5.778968	0.626633119523619	0.76879	6.573287	0.999999999999998	0.74766	0.67177	0.52595	0	0.550933	0.16991	0	0.697927	0.64325	0	0.711	0.71501	0	.	.	4.73	4.73	0.59485	9.597000	0.97445	8.536000	0.77474	0.672000	0.70159	1.000000	0.71638	1.000000	0.68203	0.972000	0.54974	0.0:0.0:1.0:0.0	18.072	0.89338	928	0.17405	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;.;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3571	971.29	186	chr10	124998080	.	G	C	971.29	.	AC=5;AF=0.357;AN=14;BaseQRankSum=-0.672;DP=1891;ExcessHet=2.8389;FS=14.731;InbreedingCoeff=-0.4812;MLEAC=6;MLEAF=0.429;MQ=58.72;MQRankSum=-8.749;QD=1.08;ReadPosRankSum=0.762;SOR=2.872	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:173,13:186:25:0|1:124998077_C_G:25,0,7205:124998077	2	0	5	3
chr10	124998087	124998087	T	C	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon4:c.A646G:p.R216G,CTBP2:NM_022802:exon4:c.A2062G:p.R688G,CTBP2:NM_001321013:exon5:c.A442G:p.R148G,CTBP2:NM_001083914:exon6:c.A442G:p.R148G,CTBP2:NM_001290214:exon6:c.A442G:p.R148G,CTBP2:NM_001290215:exon6:c.A442G:p.R148G,CTBP2:NM_001321012:exon6:c.A442G:p.R148G,CTBP2:NM_001321014:exon6:c.A442G:p.R148G,CTBP2:NM_001329:exon6:c.A442G:p.R148G	.	414	922	177	9	0	195	0.0956351	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.592	0.187163960256	.	.	.	.	.	.	.	.	.	.	.	.	.	rs914098337	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.132	0.46513	T	0.114	0.50226	T	0.889	0.56408	P	0.532	0.59825	P	0.000000	0.84330	D	0.000000	0.999931	0.51612	D	1.53	0.38800	L	-1.44	0.80815	T	-6.41	0.91868	D	0.945	0.95491	-0.1393	0.79182	T	0.443	0.78033	T	10	0.8510742	0.84286	D	0.187164	0.85921	D	0.592	0.83747	0.59	0.71874	0.975786130339	0.97552	0.9668684472081748	0.96674	1.31579442616	0.83326	0.803737461567	0.82533	D	0.582432	0.86347	D	0.299844	0.82957	D	0.192928	0.82736	D	0.96776270866394	0.68017	D	0.831417	0.49863	T	0.8377413	0.86447	0.72207403	0.83588	0.8377413	0.86448	0.72207403	0.83589	-13.47	0.92423	D	.	.	0.990	0.93663	P	.;.;.;.;.;.	.;.;.;.;.;.	3.151647	0.42666	21.6	0.99467938748563089	0.66154	0.20835	0.21186	N	AEFDGBCI	0.404313	0.47765	N	-0.449297695031707	0.23763	1.278434	-0.489554569803757	0.22440	1.218867	0.999987001428746	0.51787	0.67177	0.52595	0	0.550933	0.16991	0	0.697927	0.64325	0	0.711	0.71501	0	.	.	4.73	0.468	0.15943	-0.037000	0.12116	0.229000	0.16167	-0.876000	0.02500	0.022000	0.19841	0.016000	0.20520	0.945000	0.48827	0.0:0.0:0.2754:0.7246	17.140	0.86628	928	0.17405	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;.;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.3571	995.27	187	chr10	124998087	.	T	C	995.27	.	AC=5;AF=0.357;AN=14;BaseQRankSum=-1.122;DP=1868;ExcessHet=2.8389;FS=17.019;InbreedingCoeff=-0.4808;MLEAC=6;MLEAF=0.429;MQ=58.66;MQRankSum=-8.749;QD=1.12;ReadPosRankSum=2.66;SOR=2.879	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:174,13:187:22:0|1:124998077_C_G:22,0,7267:124998077	2	0	5	3
chr10	124998090	124998090	G	A	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon4:c.C643T:p.R215W,CTBP2:NM_022802:exon4:c.C2059T:p.R687W,CTBP2:NM_001321013:exon5:c.C439T:p.R147W,CTBP2:NM_001083914:exon6:c.C439T:p.R147W,CTBP2:NM_001290214:exon6:c.C439T:p.R147W,CTBP2:NM_001290215:exon6:c.C439T:p.R147W,CTBP2:NM_001321012:exon6:c.C439T:p.R147W,CTBP2:NM_001321014:exon6:c.C439T:p.R147W,CTBP2:NM_001329:exon6:c.C439T:p.R147W	.	413	929	171	9	0	189	0.0923302	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.874	0.341150234986	.	.	.	.	.	.	.	.	.	.	.	.	.	rs945665113	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.026	0.59928	D	0.005	0.74150	D	1.0	0.90584	D	0.994	0.88582	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.78	0.95251	H	-2.1	0.86146	D	-7.06	0.95511	D	0.966	0.98840	0.927	0.96063	D	0.842	0.94722	D	10	0.9513125	0.94468	D	0.34115	0.92018	D	0.874	0.96243	0.801	0.92017	0.936821863726	0.93617	0.9793425394167631	0.97925	2.04020034352	0.94242	0.869401991367	0.92483	D	0.888608	0.97719	D	0.413835	0.90693	D	0.356669	0.90576	D	0.995111286640167	0.86855	D	0.922308	0.71764	D	0.9076591	0.92078	0.81096756	0.88961	0.9076591	0.92079	0.81096756	0.88962	-12.412	0.89971	D	.	.	0.994	0.94938	P	.;.;.;.;.;.	.;.;.;.;.;.	5.386720	0.90260	31	0.99921174864262352	0.98787	0.83216	0.42352	D	AEFDGBCI	0.811773	0.73467	D	0.762974766057605	0.83747	8.099164	0.668520105960494	0.79996	7.201961	0.999999999894642	0.74766	0.67177	0.52595	0	0.550933	0.16991	0	0.697927	0.64325	0	0.711	0.71501	0	.	.	4.73	4.73	0.59485	2.889000	0.48300	4.484000	0.43545	-0.120000	0.14102	1.000000	0.71638	1.000000	0.68203	0.964000	0.52637	0.0:0.0:1.0:0.0	18.072	0.89338	928	0.17405	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;.;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3571	949.91	192	chr10	124998090	.	G	A	949.91	.	AC=5;AF=0.357;AN=14;BaseQRankSum=-0.555;DP=1882;ExcessHet=2.8389;FS=14.717;InbreedingCoeff=-0.4625;MLEAC=6;MLEAF=0.429;MQ=58.73;MQRankSum=-8.697;QD=1.05;ReadPosRankSum=2.21;SOR=2.849	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:179,13:192:7:0|1:124998077_C_G:7,0,7437:124998077	2	0	5	3
chr10	125039033	125039033	T	A	exonic	CTBP2	.	stopgain	CTBP2:NM_001321013:exon2:c.A22T:p.K8X,CTBP2:NM_001083914:exon3:c.A22T:p.K8X,CTBP2:NM_001290214:exon3:c.A22T:p.K8X,CTBP2:NM_001290215:exon3:c.A22T:p.K8X,CTBP2:NM_001321012:exon3:c.A22T:p.K8X,CTBP2:NM_001321014:exon3:c.A22T:p.K8X,CTBP2:NM_001329:exon3:c.A22T:p.K8X	.	432	1023	67	0	0	67	0.0317085	.	.	.	1330655	not_specified|Pulmonary_artery_atresia	MedGen:CN169374|Human_Phenotype_Ontology:HP:0004935,MedGen:C0265908	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	.	.	.	.	1.651e-05	9.626e-05	0	0	0	1.501e-05	0	0	0.0001537	4	26028	rs76555439	6.847e-07	2.257e-05	1.363e-06	0	.	0	0	.	.	0	0	0	0	1.872e-05	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.903	0.90363	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.47795	0.93627	D	0.448766	0.93547	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.;.	.;.;.;.	9.829600	0.99355	43	0.99586803091769216	0.73336	0.87743	0.47386	D	AEFGBHCI	0.077324	0.15576	N	0.854919915911592	0.89387	9.950527	0.733718632913773	0.84935	8.434	0.999999999999905	0.74766	0.645754	0.44609	0	0.627178	0.54094	0	0.696144	0.63334	0	0.711	0.71501	0	.	.	5.28	5.28	0.74118	4.878000	0.62786	7.743000	0.68032	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:0.0:1.0	13.948	0.63611	877	0.30165	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.2	236.57	144	chr10	125039033	.	T	A	236.57	.	AC=4;AF=0.2;AN=20;BaseQRankSum=-2.24;DP=898;ExcessHet=1.5895;FS=0;InbreedingCoeff=-0.25;MLEAC=4;MLEAF=0.2;MQ=58.76;MQRankSum=-11.94;QD=0.38;ReadPosRankSum=-0.451;SOR=0.77	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:133,11:144:51:0|1:125039033_T_A:51,0,5514:125039033	6	0	4	0
chr10	125039035	125039035	T	C	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001321013:exon2:c.A20G:p.H7R,CTBP2:NM_001083914:exon3:c.A20G:p.H7R,CTBP2:NM_001290214:exon3:c.A20G:p.H7R,CTBP2:NM_001290215:exon3:c.A20G:p.H7R,CTBP2:NM_001321012:exon3:c.A20G:p.H7R,CTBP2:NM_001321014:exon3:c.A20G:p.H7R,CTBP2:NM_001329:exon3:c.A20G:p.H7R	.	434	1022	66	0	0	66	0.0312796	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.314	0.0169483827955	.	.	1.651e-05	9.626e-05	0	0	0	1.501e-05	0	0	0.0001921	5	26028	rs78849795	6.847e-07	2.257e-05	1.363e-06	0	.	0	0	.	.	0	0	0	0	1.872e-05	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.28	0.15509	T	0.911	0.02952	T	0.0	0.02946	B	0.001	0.04355	B	.	.	.	.	0.976171	0.25390	N	1.155	0.29575	L	-1.53	0.81559	D	-0.28	0.11547	N	0.556	0.58117	-0.7162	0.59649	T	0.384	0.73988	T	9	0.2395181	0.41094	T	0.016948	0.38442	T	0.314	0.63588	0.302	0.27003	0.989459454501	0.98934	.	.	.	.	.	.	.	0.157543	0.50018	T	0.164577	0.70624	D	-0.00137324	0.70247	D	0.378074373079758	0.28108	T	0.886111	0.61235	D	0.15569115	0.35175	0.15271002	0.35916	0.15569115	0.35174	0.15271002	0.35915	-2.736	0.07610	T	.	.	0.160	0.48978	B	.;.;.;.	.;.;.;.	3.581586	0.50496	23.0	0.96844956273467708	0.31320	0.86671	0.46001	D	AEFGBHCI	0.757168	0.69621	D	-0.0152146198236119	0.41167	2.457583	0.165997750048251	0.47996	3.021633	0.999999999999905	0.74766	0.645754	0.44609	0	0.60822	0.50512	0	0.696144	0.63334	0	0.711	0.71501	0	.	.	5.28	5.28	0.74118	4.878000	0.62786	7.749000	0.68113	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:0.0:1.0	13.948	0.63611	877	0.30165	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2	236.57	144	chr10	125039035	.	T	C	236.57	.	AC=4;AF=0.2;AN=20;BaseQRankSum=-2.41;DP=890;ExcessHet=1.5895;FS=0;InbreedingCoeff=-0.25;MLEAC=4;MLEAF=0.2;MQ=58.74;MQRankSum=-11.94;QD=0.38;ReadPosRankSum=-0.442;SOR=0.77	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:133,11:144:51:0|1:125039033_T_A:51,0,5514:125039033	6	0	4	0
chr10	128115599	128115599	T	C	exonic	MKI67	.	nonsynonymous SNV	MKI67:NM_002417:exon7:c.A809G:p.Y270C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.017	0.00218559859449	.	.	5.771e-05	0	0	0.0006	0	0	0	0.0001	4.53e-05	7	154602	rs762630569	2.257e-05	2.257e-05	1.497e-05	3.025e-05	0.0004	1.61e-05	1.416e-05	0.0003	0.0002	0	2.236e-05	0	0.0004	0	0.0002	8.993e-07	3.311e-05	0.0001	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.187	0.21385	T	0.142	0.33330	T	0.001	0.07471	B	0.002	0.06944	B	0.085601	0.02400	N	2.039830	1	0.08975	N	0	0.06538	N	1.94	0.22678	T	-0.25	0.11008	N	0.098	0.07949	-1.0122	0.26228	T	0.022	0.09238	T	10	0.022751093	0.00577	T	0.002186	0.04098	T	0.017	0.02790	.	.	0.162503812791	0.15892	0.0902388759442695	0.08956	0.0491618882954	0.05378	0.22301197052	0.01491	T	0.005566	0.05022	T	-0.599278	0.00147	T	-0.768597	0.02814	T	0.0225474106477758	0.00970	T	0.446155	0.12501	T	0.041938398	0.06268	0.025387105	0.00582	0.041938398	0.06267	0.025387105	0.00582	-2.088	0.03533	T	.	.	0.085	0.09965	B	.	.	1.059723	0.14413	10.99	0.9699801004356674	0.31928	0.01559	0.05102	N	AEFBHCI	0.017126	0.00429	N	-1.24580935439499	0.04355	0.196399	-1.31217749284486	0.04271	0.2011365	0.999745287317405	0.42466	0.706548	0.73137	0	0.697927	0.68747	0	0.724815	0.87919	0	0.711	0.71501	0	.	.	3.59	-3.53	0.04369	-0.302000	0.08259	-2.043000	0.04299	0.665000	0.62972	0.000000	0.06391	0.000000	0.08366	0.247000	0.23184	0.1709:0.2381:0.1615:0.4295	0.823	0.01044	964	0.07719	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	2158.43	192	chr10	128115599	.	T	C	2158.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=3.84;DP=522;ExcessHet=0;FS=1.808;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.24;ReadPosRankSum=-1.415;SOR=0.54	GT:AD:DP:GQ:PL	0/1:113,79:192:99:2170,0,2960	9	0	1	0
chr11	551741	551741	C	T	exonic	LRRC56	.	nonsynonymous SNV	LRRC56:NM_198075:exon10:c.C887T:p.S296F	.	412	1059	49	2	0	53	0.0244127	.	.	.	1566203	LRRC56-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.104	.	0.0025	0.00878594	0.0071	0.0007	0.0025	0.0004	0.0005	0.0040	0.0162	0.0334	0.0065846	1018	154602	rs139348192	0.0056	0.0057	0.0049	0.0065	0.0340	0.0055	0.0055	0.0330	0.0326	0.0007	0.0020	0.0049	0.0002	0.0006	0.0142	0.0041	0.0064	0.0340	0.0039	0.0039	0.0038	0.0039	0.0342	0.0036	0.0035	0.0299	0.0283	0.0008	0	0.0022	0.0052	0	0.0002	0.0068	0.0048	0.0043	0.0342	0.004	0.65419	D	0.031	0.53788	D	0.989	0.62824	D	0.809	0.58564	P	0.020131	0.27106	N	0.349867	0.999995	0.08975	N	2.665	0.77964	M	2.62	0.12988	T	-2.4	0.52776	N	0.461	0.49783	-1.1131	0.02817	T	0.046	0.19680	T	10	0.0036670566	0.00067	T	.	.	.	0.104	0.29647	.	.	0.376921832658	0.37306	0.40103892264460156	0.40018	.	.	0.481672912836	0.36288	T	0.012776	0.11168	T	-0.475094	0.00791	T	-0.430841	0.29840	T	0.0282370238378752	0.01722	T	0.677032	0.28590	T	0.10101317	0.23857	0.13709292	0.32779	0.10101317	0.23857	0.13709292	0.32778	-5.382	0.40746	T	0.7726946834992914	0.85352	0.153	0.33913	B	.	.	3.203815	0.43583	21.8	0.99637721640869203	0.76449	0.37578	0.25793	N	AEFDGBHCI	0.138923	0.26037	N	0.110799777074831	0.46966	2.929038	0.0309368537939218	0.41158	2.468169	0.999999974760928	0.74766	0.646311	0.45356	0	0.588066	0.40923	0	0.645312	0.48771	0	0.613276	0.41899	0	.	.	4.14	4.14	0.47821	2.008000	0.40513	5.577000	0.48958	0.599000	0.40250	0.007000	0.17678	0.960000	0.29291	0.005000	0.06747	0.0:1.0:0.0:0.0	11.786	0.51314	906	0.23090	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.014099	0.000000	0.008174	0.005917	0.050000	0.000000	0.033537	0.022727	0.15	5988.45	159	chr11	551741	.	C	T	5988.45	.	AC=3;AF=0.15;AN=20;BaseQRankSum=-0.556;DP=603;ExcessHet=0.7463;FS=0.384;InbreedingCoeff=-0.1765;MLEAC=3;MLEAF=0.15;MQ=60;MQRankSum=0;QD=16.54;ReadPosRankSum=0.096;SOR=0.735	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:72,87:159:99:0|1:551741_C_T:3335,0,2758:551741	7	0	3	0
chr11	608063	608063	G	T	exonic	PHRF1	.	nonsynonymous SNV	PHRF1:NM_001286581:exon14:c.G2607T:p.K869N,PHRF1:NM_001286582:exon14:c.G2601T:p.K867N,PHRF1:NM_001286583:exon14:c.G2595T:p.K865N,PHRF1:NM_020901:exon14:c.G2604T:p.K868N	.	422	1099	1	0	0	1	0.000454752	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.086	0.0192345268029	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.371e-06	2.736e-06	1.364e-06	1.377e-06	0.0002	2.3e-07	9e-08	.	.	0	0	0	0	0	0.0002	0	1.657e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.108	0.44702	T	0.993	0.68779	D	0.738	0.61580	P	0.000549	0.43413	D	0.000000	0.999999	0.08975	N	2.135	0.59519	M	2.03	0.20959	T	-2.98	0.62518	D	0.363	0.40465	-1.0472	0.15188	T	0.070	0.28478	T	10	0.24281406	0.41484	T	0.019235	0.41549	T	0.086	0.25016	0.251	0.18912	0.134007934775	0.12933	0.42367514316987126	0.42284	0.505791430487	0.48811	0.376532018185	0.21764	T	0.041412	0.25850	T	-0.223607	0.17504	T	-0.558973	0.16473	T	0.861770510673523	0.51212	D	0.825817	0.48860	T	0.43115726	0.62828	0.35286185	0.60857	0.43115726	0.62828	0.35286185	0.60856	-4.053	0.24594	T	.	.	0.424	0.60878	A	.;.;.;.	.;.;.;.	2.865898	0.37883	20.6	0.99650686914732345	0.77254	0.76873	0.37738	D	AEFBCI	0.308895	0.41535	N	0.209394458150446	0.51653	3.34498	0.110615595407588	0.45090	2.778475	0.999251964007689	0.38906	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	4.98	4.0	0.45673	2.506000	0.45093	5.010000	0.46663	0.618000	0.50648	0.999000	0.42656	1.000000	0.68203	0.012000	0.09680	0.2125:0.2321:0.5554:0.0	3.624	0.07648	923	0.18507	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	3503.43	258	chr11	608063	.	G	T	3503.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.795;DP=597;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.58;ReadPosRankSum=-0.729;SOR=0.669	GT:AD:DP:GQ:PL	0/1:116,142:258:99:3515,0,2682	9	0	1	0
chr11	1018228	1018228	G	0	exonic	MUC6	.	.	.	.	413	954	154	0	1	155	0.0746848	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	468.85	245	chr11	1018228	.	G	*	468.85	.	AC=5;AF=0.25;AN=20;BaseQRankSum=1.67;DP=2185;ExcessHet=7.0302;FS=18.309;InbreedingCoeff=-0.5385;MLEAC=5;MLEAF=0.25;MQ=56.96;MQRankSum=-9.438;QD=0.31;ReadPosRankSum=-2.147;SOR=2.537	GT:AD:DP:GQ:PL	0/1:209,20:245:99:199,0,8836	5	0	5	0
chr11	1018290	1018290	G	A	exonic	MUC6	.	nonsynonymous SNV	MUC6:NM_005961:exon31:c.C4511T:p.P1504L	.	414	746	107	2	253	364	0.0692452	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.00130114034182	.	.	0.0003	0.0006	0.0002	0.0001	0.0005	0.0003	0.0011	0	1.94e-05	3	154602	rs776891354	1.107e-05	3.01e-05	1.651e-05	5.562e-06	2.261e-05	6.55e-06	5.3e-06	8.17e-06	6.48e-06	0	2.261e-05	0	0	0	0	1.361e-05	0	0	0.0001	0.0098	0.0001	9.374e-05	0.0007	5.246e-05	3.934e-05	0.0001	5.226e-05	0.0001	0	0	0	0.0007	0	0	9.554e-05	0	0	0.087	0.32453	T	0.452	0.12884	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	0.805	0.20218	L	2.32	0.16640	T	-0.07	0.08033	N	0.067	0.03956	-1.0134	0.25848	T	0.014	0.05465	T	9	0.022066832	0.00542	T	0.001301	0.01809	T	0.004	0.00165	.	.	0.141422826196	0.13715	0.17699347360380507	0.17618	0.090681263109	0.10232	0.182567775249	0.00120	T	0.011815	0.10487	T	-0.418061	0.01760	T	-0.838292	0.01125	T	0.0714186060218739	0.08849	T	.	.	.	0.023426026	0.01081	0.02954413	0.01305	0.023426026	0.01081	0.02954413	0.01304	-3.396	0.15003	T	.	.	0.071	0.04041	B	.	.	-1.051810	0.00700	0.020	0.59025517677381145	0.06128	0.00427	0.02100	N	AEFDGBI	0.028602	0.02550	N	-2.28884873487817	0.00048	0.002069904	-2.37477325509698	0.00045	0.001973028	0.999941380871367	0.47345	0.69289	0.55638	0	0.550933	0.16991	0	0.517114	0.09559	2	0.508809	0.08732	0	.	.	2.41	-4.82	0.02938	-5.543000	0.00137	-20.000000	0.00162	-5.324000	0.00012	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.3114:0.1979:0.3276:0.1631	0.642	0.00759	825	0.40060	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.35	5261.36	292	chr11	1018290	.	G	A	5261.36	.	AC=7;AF=0.35;AN=20;BaseQRankSum=4.14;DP=2815;ExcessHet=15.1594;FS=18.65;InbreedingCoeff=-0.8182;MLEAC=7;MLEAF=0.35;MQ=55.31;MQRankSum=-9.462;QD=2.02;ReadPosRankSum=0.915;SOR=1.877	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:234,31:292:99:.:.:597,0,9732:.	3	0	7	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	0.016145	0.010101	0.008174	0.017544	0.100000	0.000000	0.012195	0.041985	0.1	2919.14	118	chr11	1075685	.	C	T	2919.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-0.873;DP=512;ExcessHet=0.2348;FS=5.858;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=13.9;ReadPosRankSum=1.27;SOR=0.424	GT:AD:DP:GQ:PL	0/1:48,70:118:99:1829,0,1164	8	0	2	0
chr11	1078317	1078317	C	T	exonic	MUC2	.	unknown	UNKNOWN	.	413	1107	2	0	0	2	0.000902527	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0004	0.000199681	0.0005	0.0016	0.0001	0.0004	0	0.0001	0.0033	0.0013	0.0002652	41	154602	rs370807437	0.0002	0.0002	0.0001	0.0002	0.0010	0.0001	0.0001	0.0009	0.0008	0.0010	0.0002	3.844e-05	0.0001	0	0.0007	6.305e-05	0.0002	0.0010	0.0004	0.0004	0.0004	0.0003	0.0010	0.0003	0.0003	0.0008	0.0007	0.0010	0	0	0	0.0002	0	0	7.351e-05	0	0.0010	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001518	0.000000	0.001366	0.000000	0.000000	0.000000	0.006173	0.000000	0.05	1760.43	126	chr11	1078317	.	C	T	1760.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.53;DP=475;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.97;ReadPosRankSum=1.12;SOR=0.683	GT:AD:DP:GQ:PL	0/1:62,64:126:99:1772,0,1447	9	0	1	0
chr11	1096143	1096212	TGACACCCATCACCACCACCACTACGGTGACCCCAACCCCAACACCCACCGGCACACAGACCCCAACCAC	0	exonic	MUC2	.	.	.	.	508	767	11	0	236	247	0.00711974	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2222	7445.87	286	chr11	1096143	.	TGACACCCATCACCACCACCACTACGGTGACCCCAACCCCAACACCCACCGGCACACAGACCCCAACCAC	*	7445.87	.	AC=4;AF=0.222;AN=18;BaseQRankSum=3.63;DP=5381;ExcessHet=8.3924;FS=0;InbreedingCoeff=-0.5278;MLEAC=4;MLEAF=0.222;MQ=57.39;MQRankSum=-5.608;QD=2.82;ReadPosRankSum=-0.805;SOR=0.713	GT:AD:DP:GQ:PL	0/1:236,50:286:99:1117,0,12405	5	0	4	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	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05556	582.16	190	chr11	1096155	.	C	G	582.16	.	AC=1;AF=0.056;AN=18;BaseQRankSum=0.891;DP=5240;ExcessHet=8.3924;FS=0.551;InbreedingCoeff=-0.5278;MLEAC=1;MLEAF=0.056;MQ=55.84;MQRankSum=-3.048;QD=0.26;ReadPosRankSum=-4.847;SOR=0.736	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:159,31:190:99:0|1:1096140_C_CAT:592,0,8655:1096140	8	0	1	1
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	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	1288.98	254	chr11	1096181	.	C	G	1288.98	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.144;DP=4320;ExcessHet=5.3821;FS=0.539;InbreedingCoeff=-0.5278;MLEAC=1;MLEAF=0.071;MQ=55.94;MQRankSum=-4.522;QD=0.73;ReadPosRankSum=-1.305;SOR=0.735	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:204,50:254:99:0|1:1096140_C_CAT:1318,0,9464:1096140	6	0	1	3
chr11	1096212	1096212	C	T	exonic	MUC2	.	unknown	UNKNOWN	.	603	738	12	0	169	181	0.00806452	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1400696229	0.0042	0.0094	0.0040	0.0044	0.0105	0.0040	0.0039	0.0063	0.0057	0.0078	0.0031	0.0092	0.0039	0.0418	0.0105	0.0037	0.0060	0.0014	0.0038	0.0063	0.0033	0.0042	0.0040	0.0032	0.0030	0.0032	0.0029	0.0039	0	0.0038	0.0018	0.0024	0.0035	0	0.0040	0.0049	0.0012	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1268.43	261	chr11	1096212	.	C	T	1268.43	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.89;DP=4341;ExcessHet=5.3821;FS=0;InbreedingCoeff=-0.6027;MLEAC=1;MLEAF=0.083;MQ=56.5;MQRankSum=-4.926;QD=0.68;ReadPosRankSum=7.08;SOR=0.689	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:211,50:261:99:0|1:1096140_C_CAT:1567,0,8660:1096140	5	0	1	4
chr11	1096374	1096374	C	T	exonic	MUC2	.	unknown	UNKNOWN	.	573	938	11	0	0	11	0.00582936	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1486501087	0.0007	0.0036	0.0006	0.0008	0.0011	0.0007	0.0006	0.0008	0.0008	0.0001	0.0004	0.0005	0.0001	0.0024	0.0011	0.0007	0.0009	0.0010	0.0008	0.0014	0.0006	0.0009	0.0013	0.0006	0.0006	0.0009	0.0008	0.0002	0	0.0009	0.0003	0	0.0011	0	0.0011	0.0005	0.0013	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	676.43	297	chr11	1096374	.	C	T	676.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.925;DP=2598;ExcessHet=0;FS=7.017;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=52.78;MQRankSum=-3.787;QD=2.28;ReadPosRankSum=-0.897;SOR=0.964	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:236,61:297:99:0|1:1096305_T_C:688,0,8119:1096305	9	0	1	0
chr11	1098511	1098511	C	T	exonic	MUC2	.	unknown	UNKNOWN	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1435418765	0.0002	0.0002	0.0002	0.0002	0.0011	0.0001	0.0001	0.0008	0.0007	0.0011	0.0002	0.0002	0	0.0004	0	0.0001	0.0002	5.826e-05	0.0004	0.0003	0.0002	0.0006	0.0004	0.0002	0.0002	0.0001	9.011e-05	0	0	0.0003	0	0	0.0019	0	0.0004	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	.	.	.	.	.	.	.	.	0.05556	165.05	117	chr11	1098511	.	C	T	165.05	.	AC=1;AF=0.056;AN=18;BaseQRankSum=6;DP=1128;ExcessHet=0;FS=23.996;InbreedingCoeff=-0.0811;MLEAC=1;MLEAF=0.056;MQ=42.32;MQRankSum=-4.301;QD=1.41;ReadPosRankSum=-1.989;SOR=4.348	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:105,12:117:99:0|1:1098511_C_T:176,0,4254:1098511	8	0	1	1
chr11	1098538	1098538	T	C	exonic	MUC2	.	unknown	UNKNOWN	.	674	844	4	0	0	4	0.00236407	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1169334096	0.0032	0.0055	0.0033	0.0031	0.0031	0.0031	0.0030	0.0030	0.0029	0.0010	0.0019	0.0052	0.0011	0.0223	0.0025	0.0031	0.0044	0.0012	0.0150	0.0054	0.0122	0.0179	0.0232	0.0120	0.0110	0.0178	0.0159	0.0027	0	0.0049	0.0104	0.0053	0.0249	0.1000	0.0232	0.0323	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	646.49	169	chr11	1098538	.	T	C	646.49	.	AC=1;AF=0.083;AN=12;BaseQRankSum=6.33;DP=1702;ExcessHet=0;FS=50.479;InbreedingCoeff=-0.1778;MLEAC=1;MLEAF=0.083;MQ=43.64;MQRankSum=-6.495;QD=3.83;ReadPosRankSum=-3.356;SOR=5.856	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:141,28:169:99:0|1:1098511_C_T:655,0,5184:1098511	5	0	1	4
chr11	1099366	1099435	TGACGCCCATCACCACCACCACTACGGTGACCCCAACCCCAACACCCACCGGCACACAGACCCCAACCCC	0	exonic	MUC2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4	2191.92	115	chr11	1099366	.	TGACGCCCATCACCACCACCACTACGGTGACCCCAACCCCAACACCCACCGGCACACAGACCCCAACCCC	*	2191.92	.	AC=4;AF=0.4;AN=10;BaseQRankSum=1.75;DP=3327;ExcessHet=2.3007;FS=0.524;InbreedingCoeff=-0.1696;MLEAC=6;MLEAF=0.6;MQ=52.67;MQRankSum=-0.92;QD=1.9;ReadPosRankSum=-2.196;SOR=0.746	GT:AD:DP:GQ:PGT:PID:PL:PS	1|0:0,74:115:99:0|1:1099366_T_*:6843,1843,1450:1099366	1	0	4	5
chr11	1099370	1099370	G	0	exonic	MUC2	.	.	.	.	923	13	249	324	13	910	0.971831	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	37325.4	122	chr11	1099370	.	G	*	37325.4	.	AC=5;AF=0.25;AN=20;BaseQRankSum=1.89;DP=3372;ExcessHet=0;FS=0;InbreedingCoeff=nan;MLEAC=5;MLEAF=0.25;MQ=53.57;MQRankSum=-0.709;QD=17.77;ReadPosRankSum=0.377;SOR=0.192	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:0,73:122:99:0|1:1099366_T_*:7066,2066,1788:1099366	5	0	5	0
chr11	1099446	1099446	T	0	exonic	MUC2	.	.	.	.	637	671	209	1	4	215	0.135866	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1429	4326.62	187	chr11	1099446	.	T	*	4326.62	.	AC=2;AF=0.143;AN=14;BaseQRankSum=3.43;DP=3347;ExcessHet=10.4813;FS=10.857;InbreedingCoeff=-0.6374;MLEAC=2;MLEAF=0.143;MQ=50.12;MQRankSum=0.973;QD=2.68;ReadPosRankSum=-3.032;SOR=1.678	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:141,26:187:99:.:.:680,0,5622:.	5	0	2	3
chr11	1199969	1199969	T	C	exonic	MUC5AC	.	nonsynonymous SNV	MUC5AC:NM_001304359:exon48:c.T16700C:p.M5567T	.	417	1081	23	1	0	25	0.0114312	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0033	0.00519169	0.0110	0.0020	0.0029	0.0002	0.0222	0.0122	0.0115	0.0175	0.0067852	1049	154602	rs80262142	0.0072	0.0071	0.0067	0.0076	0.0140	0.0070	0.0070	0.0132	0.0129	0.0012	0.0019	0.0043	5.57e-05	0.0138	0.0131	0.0070	0.0065	0.0140	0.0051	0.0051	0.0048	0.0055	0.0145	0.0048	0.0047	0.0118	0.0108	0.0016	0	0.0049	0.0043	0.0002	0.0106	0.0136	0.0063	0.0033	0.0145	.	.	.	0.375	0.16231	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.222	0.24883	.	.	.	.	.	.	.	0.0063442886	0.00143	T	.	.	.	.	.	.	.	0.401185642668	0.39728	0.6802852741398453	0.67967	.	.	.	.	.	0.148596	0.48722	T	-0.602865	0.00140	T	-0.627074	0.10637	T	.	.	.	.	.	.	0.111018784	0.26238	0.30103356	0.56136	0.111018784	0.26238	0.30103356	0.56135	-6.666	0.51554	T	.	.	0.182	0.39596	B	.	.	-0.641495	0.01462	0.089	0.48665955890249157	0.04080	0.08641	0.14542	N	AEFDBI	.	.	.	.	.	.	.	.	.	0.999068649206854	0.38343	0.056701	0.00814	0	0.060609	0.00678	0	0.074216	0.02223	0	0.079188	0.02158	0	0.115614	0.24167	4.98	-5.5	0.02373	-1.198000	0.03144	-2.442000	0.03749	0.607000	0.46521	0.000000	0.06391	0.000000	0.08366	0.291000	0.24285	0.3958:0.085:0.2697:0.2495	1.448	0.02226	.	.	Cystine knot, C-terminal|Cystine knot, C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	594.43	81	chr11	1199969	.	T	C	594.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.469;DP=437;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=7.34;ReadPosRankSum=0.102;SOR=0.582	GT:AD:DP:GQ:PL	0/1:50,31:81:99:606,0,1412	9	0	1	0
chr11	4545230	4545230	T	-	exonic	OR52M1	.	frameshift deletion	OR52M1:NM_001004137:exon1:c.40delT:p.F14Sfs*32	.	429	1053	39	1	0	41	0.0190964	.	.	.	3221646	OR52M1-related_disorder	.	no_assertion_criteria_provided	Benign	.	.	.	.	.	.	.	.	.	.	0.0077	0.0181709	0.0084	0.0203	0.0027	0.0488	0	0.0005	0.0046	0.0211	0.001191	31	26028	rs77893620	0.0035	0.0035	0.0031	0.0040	0.0361	0.0035	0.0034	0.0345	0.0339	0.0230	0.0025	0.0002	0.0361	0	0.0064	0.0007	0.0077	0.0186	0.0091	0.0091	0.0088	0.0093	0.0445	0.0087	0.0085	0.0398	0.0380	0.0218	0	0.0052	0	0.0445	0	0	0.0006	0.0104	0.0214	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009567	0.000000	0.005435	0.014620	0.000000	0.008621	0.009146	0.018939	0.05	778.39	69	chr11	4545229	.	CT	C	778.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.835;DP=411;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.28;ReadPosRankSum=-0.228;SOR=0.794	GT:AD:DP:GQ:PL	0/1:42,27:69:99:790,0,1364	9	0	1	0
chr11	5070094	5070094	C	T	exonic	OR52E1	.	unknown	UNKNOWN	.	858	650	14	0	0	14	0.0106545	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00179712	0.0076	0	0.0142	0	0.0046	0.0084	0	0.0299	0.0012807	198	154602	rs570789731	0.0028	0.0016	0.0028	0.0029	0.0135	0.0027	0.0026	0.0087	0.0072	0.0001	0.0011	0.0261	0	0.0007	0.0135	0.0022	0.0036	0.0068	0.0020	0.0020	0.0020	0.0020	0.0083	0.0018	0.0017	0.0063	0.0056	0.0005	0	0.0009	0.0213	0	0.0006	0.0136	0.0020	0.0047	0.0083	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1	4377.14	168	chr11	5070094	.	C	T	4377.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-1.005;DP=853;ExcessHet=0.2348;FS=6.949;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=12.36;ReadPosRankSum=0.551;SOR=0.967	GT:AD:DP:GQ:PL	0/1:83,85:168:99:2368,0,2424	8	0	2	0
chr11	5351792	5351792	C	G	exonic	OR51B6	.	nonsynonymous SNV	OR51B6:NM_001004750:exon1:c.C285G:p.C95W	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1875	583.44	162	chr11	5351792	.	C	G	583.44	.	AC=3;AF=0.188;AN=16;BaseQRankSum=-4.84;DP=1627;ExcessHet=0.7463;FS=376.01;InbreedingCoeff=-0.2619;MLEAC=3;MLEAF=0.188;MQ=60;MQRankSum=0;QD=1.13;ReadPosRankSum=0.472;SOR=11.492	GT:AD:DP:GQ:PL	0/1:106,56:162:99:324,0,2620	5	0	3	2
chr11	7691973	7691973	A	G	exonic	OVCH2	.	nonsynonymous SNV	OVCH2:NM_198185:exon13:c.T1436C:p.I479T	.	.	.	.	.	.	.	.	.	.	.	3469902	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.118	0.00469459798419	0.0002	.	0.0001	0	0.0010	0	0	0.0001	0	0.0001	3.23e-05	5	154602	rs367874438	6.615e-05	6.704e-05	6.124e-05	7.116e-05	0.0001	5.515e-05	5.119e-05	6.644e-05	5.388e-05	0	0	0	0	0	0	7.158e-05	0.0001	0.0001	5.915e-05	5.911e-05	7.708e-05	4.036e-05	8.819e-05	3.078e-05	2.21e-05	3.762e-05	2.575e-05	7.238e-05	0	0	0	0	0	0	8.819e-05	0	0	.	.	.	0.001	0.83351	D	.	.	.	.	.	.	0.023021	0.26524	N	0.268702	0.999442	0.21182	N	.	.	.	.	.	.	.	.	.	0.3	0.33904	-1.0704	0.09326	T	0.039	0.16978	T	10	0.08452457	0.14175	T	0.004695	0.11660	T	.	.	.	.	0.226586394389	0.22295	0.5168185919321072	0.51604	.	.	0.471952199936	0.34948	T	0.032766	0.22630	T	-0.0636517	0.42333	T	-0.0695286	0.65659	T	0.837069034576416	0.49090	D	0.739226	0.35772	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.140	0.30765	B	.;.	.;.	3.044420	0.40826	21.2	0.99309170776257294	0.58943	0.77278	0.37978	D	AEFBHCIJ	0.124716	0.24090	N	0.0645996812780982	0.44815	2.748879	0.0991468785882716	0.44505	2.731047	0.996727954942703	0.34958	0.06567	0.01388	0	0.059962	0.00310	0	0.060301	0.00762	0	0.075334	0.01956	0	.	.	5.09	2.7	0.31007	3.172000	0.50532	3.313000	0.37480	0.665000	0.62972	1.000000	0.71638	0.985000	0.30750	0.996000	0.76049	0.8179:0.0:0.1821:0.0	7.241	0.25272	793	0.45818	CUB domain|CUB domain|CUB domain|CUB domain;CUB domain|CUB domain|CUB domain|CUB domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1298.43	92	chr11	7691973	.	A	G	1298.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.391;DP=399;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.11;ReadPosRankSum=-0.439;SOR=0.755	GT:AD:DP:GQ:PL	0/1:39,53:92:99:1310,0,1014	9	0	1	0
chr11	8620481	8620481	G	A	exonic	TRIM66	.	nonsynonymous SNV	TRIM66:NM_014818:exon16:c.C3109T:p.R1037W	.	431	1077	13	1	0	15	0.00691563	.	.	.	2816426	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.026	.	0.0037	0.00379393	0.0046	0.0005	0.0026	0	0.0025	0.0047	0.0047	0.0063	0.0012354	191	154602	rs138444298	0.0047	0.0045	0.0047	0.0048	0.0068	0.0046	0.0046	0.0063	0.0062	0.0010	0.0036	0.0031	0	0.0024	0.0047	0.0050	0.0047	0.0068	0.0032	0.0032	0.0034	0.0030	0.0072	0.0030	0.0029	0.0054	0.0047	0.0009	0	0.0029	0.0043	0	0.0023	0.0068	0.0047	0.0047	0.0072	0.001	0.78490	D	0.018	0.59732	D	0.081	0.24602	B	0.027	0.21085	B	0.006642	0.31890	N	0.204155	1	0.08975	N	1.79	0.46772	L	-0.2	0.66474	T	-4.12	0.75058	D	0.217	0.24260	-0.8955	0.48437	T	0.130	0.43887	T	10	0.0055477023	0.00123	T	.	.	.	0.079	0.23065	.	.	0.732548156873	0.73016	0.49871414342802306	0.49792	.	.	0.425918519497	0.28650	T	0.16208	0.50659	T	-0.423098	0.01635	T	-0.375962	0.36194	T	0.0314704420708291	0.02221	T	0.742826	0.36203	T	0.14717536	0.33656	0.17139192	0.39317	0.14717536	0.33655	0.17139192	0.39317	-5.445	0.41350	T	.	.	0.131	0.28232	B	.;.;.	.;.;.	3.567947	0.50241	22.9	0.99702678716745119	0.80729	0.28097	0.23460	N	AEFDBI	0.346012	0.44097	N	-0.432309289709939	0.24343	1.313791	-0.359936476188308	0.26203	1.445801	0.00582570620209449	0.11053	0.706548	0.73137	0	0.724815	0.89359	0	0.653264	0.51672	0	0.683762	0.67416	0	.	.	4.68	3.76	0.42368	0.884000	0.27851	5.827000	0.50131	0.676000	0.76740	0.035000	0.20724	1.000000	0.68203	0.845000	0.39915	0.0875:0.1601:0.7524:0.0	8.067	0.29828	502	0.75873	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.008353	0.015957	0.006944	0.008547	0.000000	0.000000	0.005882	0.000000	0.05	1287.43	96	chr11	8620481	.	G	A	1287.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.32;DP=420;ExcessHet=0;FS=3.75;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.41;ReadPosRankSum=1.38;SOR=0.572	GT:AD:DP:GQ:PL	0/1:46,50:96:99:1299,0,983	9	0	1	0
chr11	8932248	8932248	G	T	exonic	C11orf16	.	nonsynonymous SNV	C11orf16:NM_020643:exon2:c.C61A:p.L21M	.	433	1075	14	0	0	14	0.0064695	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.106	.	0.0038	0.00339457	0.0065	0.0013	0.0030	0.0003	0.0155	0.0082	0.0069	0.0058	0.0045019	696	154602	rs147009902	0.0050	0.0050	0.0050	0.0051	0.0055	0.0049	0.0049	0.0054	0.0053	0.0010	0.0028	0.0012	0.0002	0.0080	0.0037	0.0055	0.0038	0.0044	0.0038	0.0038	0.0037	0.0039	0.0055	0.0035	0.0034	0.0051	0.0049	0.0010	0.0077	0.0028	0.0009	0	0.0076	0.0068	0.0055	0.0047	0.0023	0.033	0.45039	D	0.089	0.44302	T	0.996	0.77913	D	0.964	0.73562	D	0.078308	0.21051	N	0.347140	0.998944	0.21775	N	2.39	0.68882	M	1.32	0.35405	T	-0.84	0.23808	N	0.251	0.34981	-0.9698	0.37242	T	0.132	0.44347	T	10	0.0074902773	0.00170	T	.	.	.	0.106	0.30130	.	.	0.190952846119	0.18690	0.27289446184904287	0.27202	0.11670823845	0.13163	.	.	.	0.011669	0.10375	T	-0.456547	0.01032	T	-0.420613	0.31006	T	0.0143281226341598	0.00286	T	0.59564	0.22108	T	0.11766364	0.27736	0.09523284	0.22578	0.11766364	0.27736	0.09523284	0.22577	-5.729	0.43950	T	.	.	0.123	0.25689	B	.;.	.;.	2.465993	0.31778	18.84	0.99488971633795142	0.67347	0.51971	0.29021	D	AEFGBI	0.121485	0.23617	N	0.28911416094338	0.55596	3.723652	0.217155897170878	0.50797	3.268212	0.999957727734356	0.48110	0.554377	0.28877	0	0.547309	0.14657	0	0.602189	0.34648	0	0.567892	0.33627	0	.	.	5.19	4.26	0.49832	0.326000	0.19391	2.067000	0.30424	0.676000	0.76740	0.843000	0.30332	0.998000	0.33993	0.161000	0.20682	0.0:0.1744:0.8256:0.0	12.576	0.55717	434	0.80536	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.004053	0.000000	0.005450	0.005848	0.050000	0.000000	0.006211	0.000000	0.05	1579.43	110	chr11	8932248	.	G	T	1579.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.148;DP=485;ExcessHet=0;FS=1.54;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.36;ReadPosRankSum=0.57;SOR=0.854	GT:AD:DP:GQ:PL	0/1:50,60:110:99:1591,0,1337	9	0	1	0
chr11	10779059	10779059	A	C	exonic	CTR9	.	nonsynonymous SNV	CTR9:NM_001346279:exon24:c.A3404C:p.E1135A,CTR9:NM_014633:exon25:c.A3476C:p.E1159A	.	.	.	.	.	.	.	.	.	.	.	3050854	not_provided|Inborn_genetic_diseases	MedGen:C3661900|MeSH:D030342,MedGen:C0950123	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.137	0.0148528791426	.	.	1.655e-05	0	0	0	0	3.012e-05	0	0	1.29e-05	2	154602	rs774578513	1.163e-05	1.163e-05	1.361e-05	9.625e-06	0.0002	7.08e-06	5.79e-06	8.1e-06	6.42e-06	0	0	0	0	0	0.0002	1.349e-05	0	1.159e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.045	0.40832	D	0.393	0.15355	T	0.075	0.24198	B	0.018	0.18489	B	0.000005	0.62929	D	0.105892	0.998978	0.45795	D	0.345	0.11182	N	0.84	0.47477	T	-0.5	0.15782	N	0.384	0.42541	-1.0418	0.16770	T	0.099	0.36983	T	10	0.120449096	0.22815	T	0.014853	0.35231	T	0.137	0.36984	0.19	0.10039	0.465294880039	0.46155	0.2147700651752765	0.21393	0.221022129664	0.24653	0.523090183735	0.42061	T	0.045348	0.27096	T	-0.159364	0.26859	T	-0.359035	0.38163	T	0.218051465248334	0.21366	T	0.861914	0.55630	D	0.11490667	0.27122	0.13313723	0.31931	0.11490667	0.27121	0.13313723	0.31930	-5.88	0.45264	T	.	.	0.116	0.23325	B	.	.	3.971589	0.58326	24.0	0.99590441567830912	0.73572	0.97083	0.72590	D	AEFBHCI	0.857550	0.77493	D	0.0702311354467275	0.45077	2.770437	0.274792017092778	0.54072	3.57334	0.999999999875815	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.68	5.68	0.88021	6.690000	0.74396	11.273000	0.91473	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.958000	0.51230	1.0:0.0:0.0:0.0	15.932	0.79459	658	0.62094	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001511	0.000000	0.001359	0.002924	0.000000	0.008621	0.000000	0.000000	0.05	812.43	71	chr11	10779059	.	A	C	812.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.468;DP=382;ExcessHet=0;FS=2.029;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.44;ReadPosRankSum=-0.621;SOR=0.458	GT:AD:DP:GQ:PL	0/1:36,35:71:99:824,0,1062	9	0	1	0
chr11	12209565	12209565	A	G	exonic	MICAL2	.	nonsynonymous SNV	MICAL2:NM_001282666:exon4:c.A658G:p.I220V,MICAL2:NM_001282667:exon4:c.A658G:p.I220V,MICAL2:NM_001282664:exon5:c.A658G:p.I220V,MICAL2:NM_001282665:exon5:c.A658G:p.I220V,MICAL2:NM_001346292:exon5:c.A658G:p.I220V,MICAL2:NM_001346294:exon5:c.A658G:p.I220V,MICAL2:NM_001346298:exon5:c.A658G:p.I220V,MICAL2:NM_001282663:exon6:c.A658G:p.I220V,MICAL2:NM_001346293:exon6:c.A658G:p.I220V,MICAL2:NM_001346295:exon6:c.A658G:p.I220V,MICAL2:NM_001346296:exon6:c.A658G:p.I220V,MICAL2:NM_001346297:exon6:c.A658G:p.I220V,MICAL2:NM_001346299:exon6:c.A658G:p.I220V,MICAL2:NM_014632:exon6:c.A658G:p.I220V	.	420	1073	26	3	0	32	0.0146924	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.392	.	0.0029	0.0127796	0.0095	0.0008	0.0021	0.0689	0.0094	0.0052	0.0110	0.0062	0.0088356	1366	154602	rs2306727	0.0063	0.0063	0.0062	0.0064	0.0900	0.0062	0.0062	0.0875	0.0865	0.0009	0.0019	0.0110	0.0900	0.0084	0.0161	0.0034	0.0063	0.0067	0.0055	0.0055	0.0050	0.0060	0.0687	0.0052	0.0051	0.0628	0.0605	0.0007	0	0.0012	0.0112	0.0687	0.0073	0.0034	0.0039	0.0090	0.0064	0.196	0.23095	T	0.414	0.18846	T	0.384	0.34453	B	0.275	0.40079	B	0.000009	0.62929	D	0.065055	8.13236e-05	0.53665	P	0.565	0.15224	N	-3.52	0.94729	D	-0.73	0.22078	N	0.182	0.19728	-0.1560	0.78769	T	0.169	0.50987	T	9	0.016178548	0.00340	T	.	.	.	0.392	0.70764	.	.	0.743643982366	0.74134	0.668593170123256	0.66797	0.417361578228	0.42357	0.365067064762	0.20121	T	0.029494	0.21121	T	-0.292411	0.09395	T	-0.105951	0.62932	T	0.0172870064269576	0.00469	T	0.926107	0.72788	D	0.06916211	0.15131	0.08680722	0.20137	0.06916211	0.15130	0.08680722	0.20136	-7.236	0.55739	T	.	.	0.091	0.24157	B	.;.;.	.;.;.	2.731477	0.35751	19.98	0.99595317556497898	0.73866	0.92954	0.56958	D	AEFGBI	0.590037	0.58668	D	0.0684662290078618	0.44996	2.763673	0.228118151901001	0.51414	3.324089	0.999999932732362	0.74766	0.706548	0.73137	0	0.588066	0.40923	0	0.618467	0.43123	0	0.714379	0.83352	0	.	.	5.3	5.3	0.74745	5.870000	0.69370	4.174000	0.42293	0.751000	0.87719	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	1.0:0.0:0.0:0.0	15.074	0.71728	895	0.25842	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.014602	0.005051	0.012228	0.035088	0.000000	0.017241	0.003049	0.018939	0.1	2877.12	100	chr11	12209565	.	A	G	2877.12	.	AC=2;AF=0.1;AN=20;DP=414;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.1;MQ=60;QD=28.77;SOR=0.909	GT:AD:DP:GQ:PL	1/1:0,100:100:99:2900,300,0	9	1	0	0
chr11	17014193	17014193	A	G	exonic	PLEKHA7	.	nonsynonymous SNV	PLEKHA7:NM_001329630:exon2:c.T95C:p.L32P,PLEKHA7:NM_001329631:exon2:c.T95C:p.L32P,PLEKHA7:NM_175058:exon2:c.T95C:p.L32P	.	415	1105	1	0	1	2	0.000452284	.	.	.	2376473	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.077	0.746501511139	.	.	0.0002	0	0.0001	0.0001	0	9.669e-05	0	0.0006	0.0001164	18	154602	rs200126779	0.0001	0.0001	0.0001	0.0001	0.0013	0.0001	9.717e-05	0.0006	0.0004	0.0002	2.323e-05	3.961e-05	0.0001	1.972e-05	0.0013	0.0001	0.0001	0.0003	0.0002	0.0002	0.0001	0.0002	0.0003	0.0001	8.753e-05	0.0002	0.0001	0.0003	0	6.554e-05	0	0	0	0	0.0001	0.0005	0	0.097	0.30943	T	0.061	0.45530	T	0.16	0.28337	B	0.062	0.26930	B	0.960443	0.07714	U	1.025670	0.996164	0.43052	D	0.695	0.17993	N	3.31	0.06291	T	0.07	0.06138	N	0.493	0.62526	-1.0372	0.18171	T	0.067	0.27468	T	10	0.23530874	0.40589	T	0.746502	0.97975	D	0.158	0.41098	.	.	0.402326594622	0.39847	0.5457155516264652	0.54497	0.390989153767	0.40301	0.902038574219	0.96663	D	0.003237	0.11321	T	-0.406071	0.02112	T	-0.504914	0.21839	T	0.030687314316656	0.02096	T	0.781022	0.41604	T	0.11614512	0.27398	0.08078436	0.18303	0.11614512	0.27398	0.08078436	0.18303	-7.298	0.56181	T	.	.	0.419	0.60608	A	.;.	.;.	3.818022	0.55117	23.6	0.96300482324337777	0.29344	0.12803	0.17489	N	AEFDBHCI	0.063436	0.12257	N	-0.356335686438623	0.27041	1.480453	-0.391643295804421	0.25245	1.387156	0.99999953221771	0.74766	0.789315	0.99827	0	0.706955	0.78570	0	0.768056	0.98339	0	0.604282	0.37693	0	.	.	3.15	0.199	0.14453	0.623000	0.24141	1.736000	0.28364	0.465000	0.21702	0.682000	0.28457	1.000000	0.68203	0.980000	0.58198	0.2253:0.3271:0.2636:0.184	0.735	0.00903	658	0.62094	WW domain|WW domain|WW domain;WW domain|WW domain|WW domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	768.43	76	chr11	17014193	.	A	G	768.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.68;DP=420;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.11;ReadPosRankSum=-0.744;SOR=0.668	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:43,33:76:99:1|0:17014171_A_G:780,0,1702:17014171	9	0	1	0
chr11	17498233	17498233	C	T	exonic	USH1C	.	nonsynonymous SNV	USH1C:NM_001297764:exon18:c.G1462A:p.G488S,USH1C:NM_005709:exon19:c.G1519A:p.G507S,USH1C:NM_153676:exon24:c.G2419A:p.G807S	Deafness, autosomal recessive 18A, Autosomal recessive;Usher syndrome, type 1C, Autosomal recessive	2	1518	2	0	0	2	0.000658328	.	.	YES	175815	Usher_syndrome_type_1C|not_provided|Autosomal_recessive_nonsyndromic_hearing_loss_18A|Usher_syndrome_type_1|not_specified	MONDO:MONDO:0010171,MedGen:C1848604,OMIM:276904,Orphanet:231169,Orphanet:886|MedGen:C3661900|MONDO:MONDO:0011192,MedGen:C1865870,OMIM:602092,Orphanet:90636|MONDO:MONDO:0010168,MedGen:C1568247,OMIM:276900,Orphanet:231169,Orphanet:886|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.367	0.109349090083	0.0002	.	0.0001	0	0.0003	0.0002	0	0.0001	0	0.0002	0.0001294	20	154602	rs142652588	0.0002	0.0002	0.0002	0.0002	0.0004	0.0001	0.0001	0.0003	0.0002	5.974e-05	0.0004	0	0.0003	0	0.0003	0.0002	6.623e-05	0.0003	0.0001	0.0001	0.0002	0.0001	0.0008	9.144e-05	7.7e-05	0.0003	0.0002	2.407e-05	0	0	0	0.0002	0	0	0.0002	0.0005	0.0008	0.004	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	0.998734	0.45356	D	2.55	0.74443	M	0.81	0.48460	T	-2.69	0.57435	D	0.774	0.80375	-0.3729	0.72872	T	0.316	0.68549	T	10	0.74522996	0.75240	D	0.109349	0.78627	D	0.367	0.68670	.	.	0.719432377758	0.71696	0.7664917708567068	0.76598	0.388010301035	0.40068	0.701587080956	0.67373	T	0.174063	0.52316	T	-0.0498031	0.44478	T	0.0378563	0.72788	D	0.515302062034607	0.33192	D	0.986401	0.95374	D	0.50774044	0.67548	0.3162165	0.57604	0.50774044	0.67549	0.3162165	0.57603	-8.824	0.66557	D	.	.	0.198	0.53064	B	.;.;.;.	.;.;.;.	3.878648	0.56357	23.7	0.99845656082863699	0.92576	0.83908	0.42999	D	ALL	0.892883	0.83026	D	0.688400180627552	0.78871	6.959885	0.653207661435256	0.78851	6.959909	0.999999999999979	0.74766	0.696267	0.57585	0	0.59043	0.45803	0	0.691665	0.62940	0	0.542086	0.14980	0	.	.	5.27	5.27	0.73797	4.783000	0.62096	3.276000	0.37195	0.599000	0.40250	1.000000	0.71638	0.998000	0.33993	0.549000	0.30150	0.0:1.0:0.0:0.0	17.687	0.88164	830	0.39242	PDZ domain|PDZ domain|PDZ domain;.;PDZ domain|PDZ domain|PDZ 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	0.001007	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.003788	0.05	2370.43	217	chr11	17498233	.	C	T	2370.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.65;DP=837;ExcessHet=0;FS=0.499;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.92;ReadPosRankSum=1.79;SOR=0.683	GT:AD:DP:GQ:PL	0/1:122,95:217:99:2382,0,2850	9	0	1	0
chr11	17645856	17645856	G	A	exonic	OTOG	.	nonsynonymous SNV	OTOG:NM_001277269:exon55:c.G8690A:p.R2897H,OTOG:NM_001292063:exon56:c.G8654A:p.R2885H	Deafness, autosomal recessive 18B, Autosomal recessive	8	1513	1	0	0	1	0.00033036	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.227	0.047195144698	.	.	0.0002	0	0	0	0	0.0002	0	0.0004	3.88e-05	6	154602	rs767373345	8.152e-05	7.798e-05	7.761e-05	8.554e-05	0.0004	6.899e-05	6.42e-05	0.0002	0.0001	9.494e-05	0	0	2.798e-05	0	0.0004	7.414e-05	0.0001	0.0003	3.942e-05	3.94e-05	3.854e-05	4.034e-05	0.0002	1.715e-05	1.129e-05	1.171e-05	6.25e-06	2.412e-05	0	0	0	0.0002	0	0	4.41e-05	0	0.0002	0.014	0.53172	D	0.0	0.92824	D	.	.	.	.	.	.	0.000026	0.55875	U	0.000000	1	0.81001	D	1.905	0.50856	L	2.14	0.19450	T	-2.41	0.52938	N	0.73	0.82358	-1.0766	0.08023	T	0.111	0.39888	T	8	0.6784022	0.71131	D	0.047195	0.62810	D	0.227	0.52620	0.656	0.79379	0.223847106136	0.22009	0.4447327900146119	0.44391	.	.	0.760700702667	0.76033	T	0.29957	0.67210	T	-0.12825	0.31778	T	-0.103926	0.63091	T	0.375277131795883	0.28001	T	0.952005	0.82399	D	0.17419085	0.38209	0.14289273	0.33979	0.17419085	0.38209	0.14289273	0.33978	-7.684	0.58896	D	.	.	0.242	0.47589	B	.;.	.;.	5.388667	0.90281	31	0.99939740096929097	0.99767	0.98528	0.83745	D	AEFBI	0.880594	0.80735	D	0.485651550680925	0.66251	4.926178	0.530382205215658	0.70045	5.447695	0.999999999819551	0.74766	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	5.28	5.28	0.74118	9.163000	0.93904	9.827000	0.81838	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.452000	0.27939	0.0:0.0:1.0:0.0	18.949	0.92607	686	0.59327	Cystine knot, C-terminal|Cystine knot, C-terminal;Cystine knot, C-terminal|Cystine knot, C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1	4090.14	172	chr11	17645856	.	G	A	4090.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=0.994;DP=611;ExcessHet=0.2348;FS=0;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=12.51;ReadPosRankSum=1.11;SOR=0.718	GT:AD:DP:GQ:PL	0/1:85,87:172:99:2321,0,2093	8	0	2	0
chr11	26561115	26561115	G	A	exonic	MUC15	.	nonsynonymous SNV	MUC15:NM_001135092:exon4:c.C886T:p.R296C,MUC15:NM_145650:exon4:c.C955T:p.R319C,MUC15:NM_001135091:exon5:c.C1036T:p.R346C	.	425	1093	4	0	0	4	0.00182648	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.021	0.0110477156131	.	0.000599042	0.0005	9.625e-05	8.685e-05	0.0056	0	6.007e-05	0	6.066e-05	0.0003881	60	154602	rs149979406	9.791e-05	9.919e-05	9.401e-05	0.0001	0.0016	8.451e-05	7.928e-05	0.0013	0.0012	8.996e-05	4.478e-05	0	0.0016	0	0.0003	5.31e-05	0.0001	4.645e-05	0.0001	0.0001	0.0001	0.0001	0.0027	9.156e-05	7.71e-05	0.0016	0.0013	0.0001	0	0	0	0.0027	0	0	2.944e-05	0	0	0.002	0.72154	D	0.006	0.70582	D	0.006	0.13644	B	0.007	0.12992	B	0.252976	0.15470	N	0.571784	1	0.08975	N	1.04	0.26193	L	1.74	0.26301	T	-2.39	0.61580	N	0.073	0.11626	-1.0221	0.23031	T	0.034	0.14552	T	10	0.004739642	0.00100	T	0.011048	0.28270	T	0.021	0.04004	.	.	0.0611884634855	0.05136	0.47804642342411097	0.47724	0.0471200179943	0.05133	0.193250656128	0.00288	T	0.087706	0.39773	T	-0.576859	0.00201	T	-0.597809	0.12995	T	0.0454294163509872	0.04681	T	0.873013	0.58094	D	0.12701312	0.29733	0.09772295	0.23272	0.12701312	0.29733	0.09772295	0.23272	-4.873	0.35430	T	.	.	0.111	0.49893	B	.;.;.;.;.	.;.;.;.;.	1.629266	0.20803	14.92	0.9880115934476752	0.46461	0.05860	0.11805	N	AEFHCI	0.109270	0.21709	N	-0.801423141109349	0.13274	0.6527454	-0.802133587227565	0.14445	0.754721	0.014187621504165	0.12564	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.33	2.16	0.26663	0.324000	0.19357	2.763000	0.34618	0.618000	0.50648	0.000000	0.06391	0.243000	0.23865	0.430000	0.27449	0.258:0.1363:0.4661:0.1397	1.825	0.02929	834	0.38640	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	791.43	102	chr11	26561115	.	G	A	791.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.16;DP=407;ExcessHet=0;FS=1.66;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=7.76;ReadPosRankSum=1.3;SOR=0.615	GT:AD:DP:GQ:PL	0/1:65,37:102:99:803,0,1513	9	0	1	0
chr11	32933425	32933425	G	A	exonic	QSER1	.	nonsynonymous SNV	QSER1:NM_001076786:exon4:c.G2167A:p.E723K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.106	0.0102933122349	.	.	8.335e-06	0.0001	0	0	0	0	0	0	6.5e-06	1	154602	rs775321646	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.573e-06	6.567e-06	0	1.346e-05	2.413e-05	0	0	.	.	2.413e-05	0	0	0	0	0	0	0	0	0	0.012	0.54683	D	0.884	0.03187	T	0.421	0.35387	B	0.118	0.32088	B	0.005160	0.33053	N	0.253174	0.989809	0.41026	D	2.075	0.57047	M	2.23	0.18083	T	-0.67	0.19297	N	0.218	0.24385	-1.0610	0.11508	T	0.084	0.32957	T	10	0.19439578	0.35249	T	0.010293	0.26654	T	0.106	0.30130	0.432	0.48171	0.110392049598	0.10638	0.23033583724708429	0.22948	0.222697933434	0.24806	0.388881891966	0.23513	T	0.004569	0.03978	T	-0.221804	0.17748	T	-0.374235	0.36395	T	0.683250069618225	0.39936	D	0.925008	0.72455	D	0.15620066	0.35262	0.13714938	0.32789	0.15620066	0.35261	0.13714938	0.32789	-3.988	0.23624	T	.	.	0.156	0.34558	B	.;.	.;.	3.435707	0.47770	22.5	0.99911743002081921	0.98095	0.91502	0.53665	D	AEFGBI	0.554460	0.56529	D	0.362545008952879	0.59407	4.119665	0.446562996022705	0.64496	4.706179	0.983559938970209	0.30578	0.706548	0.73137	0	0.615513	0.52658	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.01	5.01	0.66477	6.921000	0.75625	11.902000	0.99384	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.985000	0.61073	0.0:0.0:1.0:0.0	18.665	0.91444	489	0.76795	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	2461.43	192	chr11	32933425	.	G	A	2461.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.19;DP=1025;ExcessHet=0;FS=1.111;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.82;ReadPosRankSum=-0.995;SOR=0.784	GT:AD:DP:GQ:PL	0/1:98,94:192:99:2473,0,2773	9	0	1	0
chr11	33085953	33085953	G	A	exonic	CSTF3	.	nonsynonymous SNV	CSTF3:NM_001326:exon19:c.C1832T:p.P611L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.486	0.0396852524191	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.326e-05	6.43e-05	1.157e-05	1.503e-05	6.053e-05	8.29e-06	6.84e-06	2.012e-05	1.152e-05	0	3.446e-05	4.916e-05	0	0	0	1.035e-05	1.79e-05	6.053e-05	6.62e-06	1.317e-05	1.292e-05	0	2.439e-05	0	0	.	.	2.439e-05	0	0	0	0	0	0	0	0	0	0.003	0.68238	D	0.004	0.74150	D	0.874	0.48047	P	0.828	0.59497	P	0.000000	0.84330	D	0.000000	1	0.81001	D	2.365	0.68172	M	.	.	.	-7.33	0.94566	D	0.652	0.66272	-0.1073	0.79931	T	0.505	0.81344	D	8	0.95427924	0.94780	D	0.039685	0.58951	D	0.486	0.77464	0.873	0.96477	0.54507417769	0.54161	0.684483676958743	0.68387	1.74875396502	0.90984	0.900665163994	0.96514	D	0.370097	0.73469	T	0.196326	0.73549	D	0.0442322	0.73204	D	0.996447443962097	0.89358	D	0.967803	0.88985	D	0.7057624	0.78373	0.7466418	0.85024	0.7057624	0.78374	0.7466418	0.85025	-9.063	0.68102	D	.	.	0.945	0.86433	P	.;.	.;.	5.400781	0.90444	31	0.99879928330334211	0.95653	0.99474	0.96475	D	AEFBI	0.884655	0.81451	D	0.869130109929946	0.90168	10.28302	0.885875043347139	0.94926	13.16032	0.999999999979658	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	6.03	6.03	0.97798	9.806000	0.98257	11.894000	0.99172	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	537	0.73184	Suppressor of forked;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.375	261.2	81	chr11	33085953	.	G	A	261.2	.	AC=3;AF=0.375;AN=8;BaseQRankSum=-0.861;DP=523;ExcessHet=0.7463;FS=183.098;InbreedingCoeff=-0.4347;MLEAC=3;MLEAF=0.375;MQ=60;MQRankSum=0;QD=1.44;ReadPosRankSum=1.65;SOR=7.167	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:67,6:81:60:.:.:60,0,2171:.	1	0	3	6
chr11	57546586	57546586	T	C	exonic	SMTNL1	.	nonsynonymous SNV	SMTNL1:NM_001105565:exon7:c.T1274C:p.F425S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.950	0.654611149581	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1410688382	2.736e-06	2.736e-06	1.361e-06	4.126e-06	0.0002	6.4e-07	4.3e-07	.	.	0	0	0	0	5.618e-05	0.0002	0	0	0	6.571e-06	6.567e-06	1.285e-05	0	.	0	0	.	.	0	0	0	0	0	9.407e-05	0	0	0	0	0.0	0.91255	D	0.0	0.92824	D	.	.	.	.	.	.	0.006300	0.32136	U	0.000000	0.999997	0.58761	D	3.235	0.89610	M	-3.54	0.94799	D	-8.0	0.96495	D	0.931	0.98167	1.042	0.97957	D	0.914	0.97167	D	10	0.97522545	0.97264	D	0.654611	0.97085	D	0.950	0.99058	.	.	0.704652368328	0.70208	0.773031221992298	0.77253	.	.	0.742881834507	0.73397	T	0.838524	0.98762	D	0.539013	0.95377	D	0.536479	0.95308	D	0.998911261558533	0.95567	D	0.970403	0.89535	D	0.848136	0.87198	0.8023758	0.88419	0.848136	0.87200	0.8023758	0.88420	.	.	.	.	.	0.998	0.97401	P	.;.	.;.	4.666541	0.74536	26.2	0.99887352159742837	0.96204	0.97760	0.76934	D	AEFDBI	0.917280	0.88467	D	0.819649663298548	0.87319	9.176865	0.739133014595694	0.85343	8.552227	0.999998211664295	0.74766	0.660377	0.49826	0	0.379588	0.06130	0	0.696353	0.63694	0	0.542086	0.14980	0	.	.	4.74	4.74	0.59717	7.961000	0.87447	7.877000	0.72286	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.809000	0.38129	0.0:0.0:0.0:1.0	13.342	0.59992	0	0.99858	Calponin homology domain|Calponin homology domain|Calponin homology domain|Calponin homology domain;Calponin homology domain|Calponin homology domain|Calponin homology domain|Calponin homology domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1	2673.14	124	chr11	57546586	.	T	C	2673.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=0.139;DP=542;ExcessHet=0.2348;FS=2.102;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=10.36;ReadPosRankSum=0.079;SOR=0.835	GT:AD:DP:GQ:PL	0/1:75,49:124:99:1186,0,1944	8	0	2	0
chr11	59212195	59212195	G	A	exonic	MPEG1	.	nonsynonymous SNV	MPEG1:NM_001039396:exon1:c.C671T:p.S224F	.	432	1067	23	0	0	23	0.010663	.	.	.	2816654	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.581	0.109063054341	0.0005	0.00159744	0.0014	0.0001	0.0007	0.0001	0	0.0006	0.0056	0.0068	0.0012031	186	154602	rs199564440	0.0008	0.0008	0.0005	0.0010	0.0118	0.0007	0.0007	0.0095	0.0087	0.0001	0.0004	0	0	0	0.0118	0.0003	0.0012	0.0074	0.0005	0.0005	0.0003	0.0006	0.0056	0.0004	0.0003	0.0040	0.0034	7.215e-05	0	0.0010	0	0.0004	0	0.0068	0.0003	0.0009	0.0056	0.002	0.72154	D	0.008	0.67890	D	0.997	0.70673	D	0.924	0.65913	D	0.000919	0.41128	D	0.209762	0.992239	0.41590	D	3.025	0.86340	M	-2.02	0.85542	D	-4.77	0.80425	D	0.307	0.34659	0.592	0.91798	D	0.722	0.90481	D	10	0.00936386	0.00211	T	0.109063	0.78587	D	0.581	0.83137	.	.	0.526842377483	0.52331	0.7044099644671507	0.70382	0.435791415156	0.43679	0.440109074116	0.30591	T	0.173415	0.52228	T	-0.215622	0.18594	T	-0.0780778	0.65045	T	0.110150559866975	0.13439	T	0.816918	0.47330	T	0.69930744	0.78018	0.5693405	0.75065	0.69930744	0.78020	0.5693405	0.75066	-7.736	0.59257	D	.	.	0.187	0.40295	B	.	.	4.098738	0.61106	24.3	0.99752504692820532	0.84382	0.89856	0.50597	D	AEFDGBCI	0.855345	0.77245	D	0.55146161098157	0.70172	5.462542	0.450143075056292	0.64725	4.734498	0.999999999403566	0.74766	0.627647	0.40530	0	0.672317	0.65289	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.21	5.21	0.72005	5.908000	0.69653	11.798000	0.96570	0.672000	0.70159	1.000000	0.71638	1.000000	0.68203	0.111000	0.18785	0.0:0.0:1.0:0.0	15.741	0.77655	559	0.71409	Membrane attack complex component/perforin (MACPF) domain|Membrane attack complex component/perforin (MACPF) domain|Membrane attack complex component/perforin (MACPF) domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.009063	0.000000	0.006793	0.026316	0.000000	0.017241	0.006098	0.003788	0.1	3444.14	129	chr11	59212195	.	G	A	3444.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=0.419;DP=554;ExcessHet=0.2348;FS=2.193;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=14.29;ReadPosRankSum=0.306;SOR=0.851	GT:AD:DP:GQ:PL	0/1:58,71:129:99:1914,0,1541	8	0	2	0
chr11	61740527	61740527	G	C	exonic	DAGLA	.	nonsynonymous SNV	DAGLA:NM_006133:exon18:c.G1918C:p.V640L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.359	0.0303838687175	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.204	0.20078	T	0.084	0.41239	T	0.984	0.60733	D	0.956	0.69739	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.085	0.57729	M	1.75	0.26152	T	-1.66	0.39692	N	0.801	0.79696	-0.9294	0.44227	T	0.147	0.47183	T	10	0.85639554	0.84838	D	0.030384	0.52709	D	0.359	0.67962	0.717	0.85230	0.332276917938	0.32835	0.6045569509805981	0.60386	1.38609513779	0.84885	0.863340735435	0.91603	D	0.126602	0.45309	T	0.100887	0.64389	D	-0.0928586	0.63945	T	0.953071773052216	0.63941	D	0.949005	0.80370	D	0.34753636	0.56875	0.27692467	0.53642	0.34753636	0.56876	0.27692467	0.53641	-9.454	0.70572	D	.	.	0.932	0.85229	P	.	.	5.079334	0.84758	28.4	0.99721849654714378	0.82125	0.99768	0.99325	D	AEFBI	0.892349	0.82920	D	0.710803035018918	0.80340	7.272851	0.681479095580318	0.80974	7.419648	0.999999999989603	0.74766	0.651	0.46895	0	0.547309	0.14657	0	0.723109	0.80598	0	0.683762	0.67416	0	.	.	4.41	4.41	0.52588	9.852000	0.98385	11.590000	0.93399	0.662000	0.56354	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:1.0:0.0	17.371	0.87267	745	0.52414	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.375	1996.68	82	chr11	61740527	.	G	C	1996.68	.	AC=6;AF=0.375;AN=16;BaseQRankSum=-2.572;DP=871;ExcessHet=4.5998;FS=250.847;InbreedingCoeff=-0.5345;MLEAC=7;MLEAF=0.438;MQ=59.99;MQRankSum=0;QD=3.38;ReadPosRankSum=2.09;SOR=10.295	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:56,21:82:99:.:.:146,0,1615:.	2	0	6	2
chr11	61740531	61740531	T	C	exonic	DAGLA	.	nonsynonymous SNV	DAGLA:NM_006133:exon18:c.T1922C:p.I641T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.403	0.0197228382319	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	2.054e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.077	0.34095	T	0.015	0.61642	D	0.948	0.53620	P	0.588	0.50402	P	0.000000	0.84330	D	0.000000	1	0.81001	D	1.7	0.43825	L	1.82	0.25018	T	-2.3	0.51157	N	0.794	0.79022	-1.0707	0.09260	T	0.080	0.31675	T	10	0.8145296	0.80704	D	0.019723	0.42154	T	0.403	0.71636	0.74	0.87232	0.236619781664	0.23270	0.7000053541781993	0.69941	0.918852446908	0.71372	0.869591116905	0.92510	D	0.336126	0.70567	T	0.210662	0.74892	D	0.0648253	0.74565	D	0.952781975269318	0.63873	D	0.952105	0.81652	D	0.31849626	0.54512	0.2169086	0.46336	0.31849626	0.54512	0.2169086	0.46335	-9.563	0.71251	D	.	.	0.611	0.69337	P	.	.	4.584081	0.72443	25.8	0.99816410860115734	0.89973	0.98810	0.87149	D	AEFBI	0.685886	0.64774	D	0.421747977381816	0.62620	4.480836	0.433105891452527	0.63640	4.601745	0.999999987493739	0.74766	0.67177	0.52595	0	0.55458	0.17659	0	0.702456	0.68683	0	0.683762	0.67416	0	.	.	4.41	4.41	0.52588	6.166000	0.71739	6.033000	0.52942	0.651000	0.53179	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:0.0:1.0	13.945	0.63586	745	0.52414	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	4287.03	85	chr11	61740531	.	T	C	4287.03	.	AC=10;AF=0.5;AN=20;BaseQRankSum=-1.113;DP=1125;ExcessHet=22.563;FS=268.204;InbreedingCoeff=-0.9992;MLEAC=10;MLEAF=0.5;MQ=59.99;MQRankSum=0;QD=3.99;ReadPosRankSum=1.35;SOR=10.248	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:54,31:85:99:0|1:61740531_T_C:703,0,1545:61740531	0	0	10	0
chr11	62523450	62523450	C	T	exonic	AHNAK	.	nonsynonymous SNV	AHNAK:NM_001346445:exon5:c.G10967A:p.G3656D,AHNAK:NM_001346446:exon5:c.G10967A:p.G3656D,AHNAK:NM_001620:exon5:c.G10967A:p.G3656D	.	430	1067	24	1	0	26	0.012037	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.173	.	7.7e-05	0.00519169	0.0038	0	0.0005	0.0002	0	0.0003	0	0.0268	0.0033117	512	154602	rs200822616	0.0018	0.0018	0.0009	0.0026	0.0266	0.0017	0.0017	0.0257	0.0253	5.981e-05	0.0004	7.668e-05	7.558e-05	0	0.0035	0.0001	0.0014	0.0266	0.0010	0.0010	0.0006	0.0014	0.0246	0.0009	0.0008	0.0210	0.0196	9.682e-05	0	0.0004	0	0	0	0	0.0003	0	0.0246	0.118	0.28148	T	0.144	0.33109	T	0.208	0.29916	B	0.073	0.28123	B	0.017064	0.27816	N	0.170323	0.990324	0.81001	D	2.755	0.80505	M	2.22	0.18248	T	-3.76	0.71276	D	0.294	0.33250	-0.9613	0.38936	T	0.089	0.34408	T	10	0.005264133	0.00115	T	.	.	.	0.173	0.43840	.	.	0.208000267992	0.20380	0.04275312669271834	0.04220	0.187600955319	0.21079	0.482054769993	0.36340	T	0.606199	0.87451	D	-0.430941	0.01463	T	-0.371521	0.36710	T	0.0980801433571143	0.12145	T	0.972203	0.89922	D	0.21282545	0.43645	0.23096718	0.48215	0.21282545	0.43645	0.23096718	0.48214	-13.105	0.89790	D	.	.	0.625	0.69918	P	.	.	2.162231	0.27548	17.50	0.99527401020061412	0.69653	0.97387	0.74426	D	AEFGBI	.	.	.	0.294638915291946	0.55878	3.751787	0.329668423227677	0.57288	3.894213	0.96818528569145	0.29033	0.706298	0.61202	0	0.709663	0.81188	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.16	5.16	0.70563	1.719000	0.37633	.	.	0.539000	0.25131	0.004000	0.16614	0.693000	0.26187	0.779000	0.36868	0.0:0.9183:0.0:0.0817	11.748	0.51102	237	0.90758	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.006042	0.000000	0.005435	0.000000	0.000000	0.000000	0.009146	0.018939	0.05	4067.43	315	chr11	62523450	.	C	T	4067.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.66;DP=878;ExcessHet=0;FS=3.655;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.91;ReadPosRankSum=-0.426;SOR=0.527	GT:AD:DP:GQ:PL	0/1:162,153:315:99:4079,0,4123	9	0	1	0
chr11	62529646	62529646	G	A	exonic	AHNAK	.	nonsynonymous SNV	AHNAK:NM_001346445:exon5:c.C4771T:p.P1591S,AHNAK:NM_001346446:exon5:c.C4771T:p.P1591S,AHNAK:NM_001620:exon5:c.C4771T:p.P1591S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.178	0.00356483628491	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.118	0.36233	T	1.0	0.90584	D	0.999	0.92359	D	.	.	.	.	0.999633	0.81001	D	1.915	0.51223	L	4.03	0.03149	T	-4.0	0.74051	D	0.158	0.16447	-1.1161	0.02594	T	0.049	0.21026	T	9	0.40800133	0.56027	T	0.003565	0.08123	T	0.178	0.44724	0.321	0.30064	0.407357902709	0.40350	0.1936090667168887	0.19278	0.0380171339302	0.04038	0.28936457634	0.08830	T	0.571311	0.85810	D	-0.153875	0.27706	T	-0.458807	0.26729	T	0.804212272167206	0.46642	D	0.846115	0.52582	T	0.20956984	0.43229	0.34362406	0.60071	0.20956984	0.43229	0.34362406	0.60071	-8.619	0.65215	D	.	.	0.158	0.34949	B	.	.	1.789795	0.22753	15.75	0.98480299009490935	0.41966	0.96498	0.69439	D	AEFBI	.	.	.	0.381065007952099	0.60397	4.22812	0.239901744481617	0.52075	3.385057	0.999999993440921	0.74766	0.67177	0.52595	0	0.708844	0.79440	0	0.658983	0.55881	0	0.711	0.71501	0	.	.	4.4	4.4	0.52402	2.361000	0.43814	.	.	0.503000	0.22915	0.996000	0.39380	0.021000	0.20819	0.034000	0.13613	0.0:0.0:1.0:0.0	14.761	0.69225	261	0.89765	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	2866.43	203	chr11	62529646	.	G	A	2866.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=5.12;DP=756;ExcessHet=0;FS=4.858;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.12;ReadPosRankSum=0.272;SOR=0.654	GT:AD:DP:GQ:PL	0/1:108,95:203:99:2878,0,2986	9	0	1	0
chr11	63166073	63166073	C	T	exonic	SLC22A25	.	nonsynonymous SNV	SLC22A25:NM_199352:exon7:c.G1256A:p.C419Y	.	.	.	.	.	.	.	.	.	.	.	2317879	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.109	0.0058713840257	.	.	8.267e-06	0	0	0	0	1.502e-05	0	0	2.59e-05	4	154602	rs775776820	2.326e-05	2.326e-05	2.451e-05	2.2e-05	0.0002	1.674e-05	1.478e-05	1.998e-05	1.741e-05	0	2.237e-05	0	0	0	0.0002	2.788e-05	1.656e-05	0	1.971e-05	1.97e-05	1.285e-05	2.69e-05	2.94e-05	5.24e-06	2.45e-06	4.88e-06	1.83e-06	2.413e-05	0	0	0	0	0	0	2.94e-05	0	0	0.016	0.51853	D	1.0	0.01155	T	0.457	0.36287	P	0.296	0.40883	B	0.312504	0.14409	N	0.699685	1	0.08975	N	2.345	0.67358	M	0.39	0.57419	T	-1.49	0.36385	N	0.347	0.38848	-0.9735	0.36453	T	0.115	0.40831	T	10	0.5826571	0.65936	D	0.005871	0.15281	T	0.109	0.30843	0.701	0.83777	0.212008924253	0.20833	0.4511411133600434	0.45032	0.0264939278089	0.02708	0.303060978651	0.10859	T	0.48053	0.80948	T	-0.21067	0.19284	T	-0.476744	0.24794	T	0.117138197552916	0.14147	T	0.492951	0.15215	T	0.2510762	0.48113	0.26417652	0.52233	0.2510762	0.48113	0.26417652	0.52233	-7.923	0.60544	D	.	.	0.292	0.52376	B	.	.	-0.593360	0.01591	0.107	0.5925223128354572	0.06181	0.00926	0.03595	N	AEFDBHCIJ	0.031184	0.03280	N	-1.1147449179985	0.06380	0.293532	-1.30436171817753	0.04373	0.2061423	0.999999944001335	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.648885	0.59868	0	.	.	4.66	-5.73	0.02204	-0.777000	0.04775	-12.628000	0.00511	-0.488000	0.05050	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.3576:0.3493:0.2931:0.0	6.896	0.23439	819	0.41190	Major facilitator superfamily domain|Major facilitator superfamily domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	1530.43	102	chr11	63166073	.	C	T	1530.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.465;DP=411;ExcessHet=0;FS=0.768;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=15;ReadPosRankSum=0.05;SOR=0.867	GT:AD:DP:GQ:PL	0/1:51,51:102:99:1542,0,1432	9	0	1	0
chr11	63290238	63290238	C	T	exonic	SLC22A10	.	nonsynonymous SNV	SLC22A10:NM_001039752:exon1:c.C73T:p.L25F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.027	0.00343814914755	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.299	0.14546	T	0.498	0.11263	T	0.009	0.15093	B	0.008	0.13708	B	0.670784	0.10343	N	0.836159	1	0.08975	N	0.585	0.15399	N	0.6	0.53731	T	-1.06	0.27669	N	0.111	0.09772	-1.0334	0.19363	T	0.070	0.28609	T	10	0.042034864	0.02914	T	0.003438	0.07755	T	0.027	0.05988	0.359	0.36222	0.0884992946249	0.08302	0.34639545789419457	0.34553	0.0155235919736	0.01479	0.325473725796	0.14249	T	0.004242	0.03650	T	-0.264077	0.12426	T	-0.617105	0.11413	T	0.986176431179047	0.76962	D	0.288571	0.05217	T	0.03839796	0.05108	0.03959984	0.04088	0.03839796	0.05108	0.03959984	0.04088	-4.392	0.29448	T	.	.	0.098	0.16363	B	.	.	-1.318392	0.00423	0.008	0.40667526190809317	0.02885	0.00529	0.02453	N	AEFBCI	0.062766	0.12086	N	-1.57802451807214	0.01378	0.06005529	-1.67294110990565	0.01262	0.05688687	0.996999245436295	0.35182	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	2.89	-3.69	0.04162	-5.163000	0.00171	-20.000000	0.00162	-0.584000	0.04686	0.000000	0.06391	0.000000	0.08366	0.005000	0.06747	0.1616:0.2773:0.0:0.561	4.736	0.12364	794	0.45591	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1	149.46	84	chr11	63290238	.	C	T	149.46	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-3.009;DP=904;ExcessHet=0.2348;FS=124.706;InbreedingCoeff=-0.1252;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=0.86;ReadPosRankSum=-0.134;SOR=9.877	GT:AD:DP:GQ:PL	0/1:55,20:84:48:48,0,1052	8	0	2	0
chr11	63382169	63382169	C	T	exonic	SLC22A9	.	nonsynonymous SNV	SLC22A9:NM_080866:exon6:c.C965T:p.S322F	.	445	1072	5	0	0	5	0.00232666	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.137	0.0255077627286	7.7e-05	0.000798722	0.0012	9.615e-05	0	0	0	0.0003	0	0.0080	0.001022	158	154602	rs373670819	0.0005	0.0005	0.0003	0.0008	0.0078	0.0005	0.0005	0.0073	0.0071	6.145e-05	9.401e-05	0	0	0	0.0019	7.033e-05	0.0005	0.0078	0.0004	0.0004	0.0002	0.0005	0.0069	0.0003	0.0003	0.0050	0.0044	7.236e-05	0	0.0001	0	0.0002	0	0	0.0002	0.0010	0.0069	0.001	0.78490	D	0.002	0.79402	D	0.985	0.61118	D	0.873	0.61978	P	.	.	.	.	1	0.08975	N	2.545	0.74286	M	-0.24	0.66834	T	-4.56	0.78636	D	0.437	0.47580	-0.6729	0.61697	T	0.393	0.74626	T	9	0.008384198	0.00190	T	0.025508	0.48476	D	0.137	0.36984	.	.	0.350746614512	0.34690	0.262985679253383	0.26211	0.0170241227096	0.01645	0.647627592087	0.59649	T	0.491424	0.81580	T	-0.462475	0.00949	T	-0.432103	0.29698	T	0.104687742948318	0.12865	T	0.461754	0.13398	T	0.30239958	0.53119	0.28834462	0.54850	0.30239958	0.53119	0.28834462	0.54849	-7.32	0.56337	T	.	.	0.209	0.43585	B	.	.	2.607653	0.33864	19.46	0.99615646610539899	0.75112	0.02336	0.06681	N	AEFBI	0.108352	0.21557	N	-0.118439739512846	0.36589	2.117042	-0.341595175962785	0.26770	1.480813	5.11956520037725E-5	0.04171	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.530356	0.10902	0	.	.	3.43	2.5	0.29355	1.084000	0.30439	-0.430000	0.09227	0.513000	0.23382	0.001000	0.13787	0.000000	0.08366	0.048000	0.15020	0.0:0.8671:0.0:0.1329	6.887	0.23389	666	0.61362	Major facilitator superfamily domain|Major facilitator superfamily domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001511	0.000000	0.001359	0.000000	0.000000	0.008621	0.006098	0.000000	0.05	948.43	86	chr11	63382169	.	C	T	948.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.46;DP=400;ExcessHet=0;FS=5.822;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.03;ReadPosRankSum=-0.162;SOR=1.326	GT:AD:DP:GQ:PL	0/1:50,36:86:99:960,0,1345	9	0	1	0
chr11	64226759	64226759	G	A	exonic	NUDT22	.	nonsynonymous SNV	NUDT22:NM_001128612:exon2:c.G107A:p.G36D,NUDT22:NM_001128613:exon2:c.G107A:p.G36D,NUDT22:NM_001271831:exon2:c.G107A:p.G36D,NUDT22:NM_032344:exon2:c.G107A:p.G36D	.	.	.	.	.	.	.	.	.	.	.	3355908	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.033	0.00503458831806	0.0003	.	0.0002	0	0.0002	0	0	0.0003	0	0.0001	0.0001682	26	154602	rs144318476	0.0001	0.0001	0.0001	0.0001	0.0007	9.559e-05	9.039e-05	0.0002	0.0001	0	0.0002	0.0012	0	0	0.0007	9.353e-05	0.0001	4.637e-05	0.0001	0.0001	0.0001	0.0001	0.0002	8.658e-05	7.251e-05	0.0001	0.0001	0	0	6.533e-05	0.0009	0	0	0	0.0002	0	0.0002	0.508	0.08839	T	0.521	0.13993	T	0.206	0.29860	B	0.076	0.28435	B	0.257892	0.15375	N	0.658399	0.999979	0.18612	N	1.16	0.29674	L	1.03	0.40469	T	0.51	0.02898	N	0.427	0.46649	-1.0606	0.11607	T	0.041	0.17615	T	10	0.03417149	0.01617	T	0.005035	0.12722	T	0.033	0.08068	.	.	0.388970301349	0.38507	0.5897340298208447	0.58903	0.67148558951	0.59462	0.469853371382	0.34659	T	0.002952	0.02350	T	-0.347818	0.04865	T	-0.457958	0.26823	T	0.0172389546113078	0.00466	T	0.810019	0.46084	T	0.09819067	0.23157	0.062286764	0.12163	0.09819067	0.23157	0.062286764	0.12162	-5.219	0.43889	T	.	.	0.105	0.28406	B	.;.;.;.	.;.;.;.	2.477694	0.31942	18.89	0.89252477306415356	0.18638	0.18932	0.20460	N	AEFDGBHCI	0.186629	0.31394	N	-0.632332407910015	0.17978	0.9297497	-0.530788226766067	0.21318	1.152728	0.999999999977756	0.74766	0.733237	0.96898	0	0.504199	0.08210	0	0.52208	0.10781	0	0.621717	0.48901	0	.	.	4.41	2.49	0.29274	1.666000	0.37076	3.951000	0.40674	0.618000	0.50648	0.825000	0.30060	1.000000	0.68203	0.303000	0.24570	0.2985:0.0:0.7015:0.0	6.715	0.22484	658	0.62094	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002014	0.000000	0.005435	0.000000	0.000000	0.000000	0.000000	0.000000	0.05	1717.43	122	chr11	64226759	.	G	A	1717.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=3.18;DP=440;ExcessHet=0;FS=2.317;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.08;ReadPosRankSum=-0.082;SOR=0.608	GT:AD:DP:GQ:PL	0/1:64,58:122:99:1729,0,1717	9	0	1	0
chr11	64938557	64938557	G	A	exonic	MAJIN	.	stopgain	MAJIN:NM_001300803:exon9:c.C499T:p.R167X,MAJIN:NM_001318808:exon12:c.C415T:p.R139X	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000399361	0.0002	0	0	0.0052	0	0	0	0.0001	2.59e-05	4	154602	rs531700220	4.987e-05	4.72e-05	4.994e-05	4.98e-05	0.0016	4.008e-05	3.672e-05	0.0012	0.0011	3.166e-05	2.801e-05	0	0.0016	0	0	7.416e-06	3.456e-05	1.262e-05	9.196e-05	9.188e-05	7.712e-05	0.0001	0.0015	5.526e-05	4.364e-05	0.0008	0.0006	7.222e-05	0	0.0001	0	0.0015	0	0	0	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.986191	0.24640	N	.	.	.	.	.	.	.	.	.	0.103	0.08646	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.60982	0.00127	T	-0.649022	0.09022	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.808121	0.11788	8.362	0.98297873474622688	0.40011	0.03370	0.08468	N	AEFBI	0.063156	0.12184	N	-0.608062018916524	0.18700	0.9730276	-0.698236104823988	0.17004	0.9022244	0.121560169648986	0.16894	0.446893	0.09132	0	0.563428	0.19063	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	4.72	0.368	0.15378	0.070000	0.14440	1.683000	0.28024	0.676000	0.76740	0.005000	0.17040	0.660000	0.26011	0.452000	0.27939	0.0982:0.0:0.3825:0.5193	5.457	0.15890	386	0.83455	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	677.43	70	chr11	64938557	.	G	A	677.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.776;DP=380;ExcessHet=0;FS=0.889;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.68;ReadPosRankSum=2.37;SOR=0.818	GT:AD:DP:GQ:PL	0/1:38,32:70:99:689,0,873	9	0	1	0
chr11	65641112	65641112	C	T	exonic	SIPA1	.	nonsynonymous SNV	SIPA1:NM_006747:exon2:c.C191T:p.T64M,SIPA1:NM_153253:exon2:c.C191T:p.T64M	.	410	1106	6	0	0	6	0.00270514	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.238	0.556506037117	0.0006	0.000798722	0.0009	0.0003	0.0005	0	0.0009	0.0011	0.0014	0.0014	0.0007633	118	154602	rs200828887	0.0007	0.0007	0.0007	0.0007	0.0050	0.0007	0.0007	0.0036	0.0031	0.0002	0.0004	0.0002	0	0.0004	0.0050	0.0007	0.0010	0.0008	0.0006	0.0006	0.0007	0.0006	0.0010	0.0005	0.0005	0.0007	0.0007	0.0004	0	0.0001	0	0	0.0002	0.0102	0.0009	0.0009	0.0010	0.005	0.63226	D	0.013	0.63109	D	0.798	0.47902	P	0.197	0.43183	B	0.253200	0.15466	U	0.428407	1	0.08975	N	1.79	0.46772	L	-1.61	0.82254	D	-1.47	0.79829	N	0.262	0.31702	-0.3300	0.74133	T	0.464	0.79290	T	10	0.051036388	0.04923	T	0.556506	0.95933	D	0.238	0.54217	.	.	0.845282700075	0.84380	0.3157718032726202	0.31490	0.902148392747	0.70677	0.816763341427	0.84532	D	0.125064	0.45051	T	-0.255413	0.13442	T	-0.200258	0.54622	T	0.0148980658144745	0.00317	T	0.677032	0.28590	T	0.05558332	0.10820	0.07435434	0.16256	0.05558332	0.10820	0.07435434	0.16256	-6.257	0.48381	T	.	.	0.102	0.21653	B	.;.;.;.	.;.;.;.	3.772668	0.54193	23.5	0.99471782627480054	0.66365	0.17463	0.19848	N	AEFDGBCI	0.301580	0.41006	N	0.11061042244404	0.46958	2.928272	0.105169481324792	0.44812	2.755814	0.99999999637473	0.74766	0.722319	0.85440	0	0.52208	0.09955	0	0.658983	0.55881	0	0.735409	0.98432	0	.	.	5.38	5.38	0.77279	0.679000	0.24971	1.378000	0.26011	0.599000	0.40250	0.001000	0.13787	0.002000	0.18203	0.986000	0.61781	0.0:1.0:0.0:0.0	14.608	0.68093	274	0.89249	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.006061	0.005155	0.005450	0.005882	0.000000	0.000000	0.015244	0.000000	0.05	1052.43	57	chr11	65641112	.	C	T	1052.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.69;DP=379;ExcessHet=0;FS=2.323;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=18.46;ReadPosRankSum=0.394;SOR=0.404	GT:AD:DP:GQ:PL	0/1:22,35:57:99:1064,0,495	9	0	1	0
chr11	66850052	66850052	C	T	exonic	PC	.	nonsynonymous SNV	PC:NM_022172:exon18:c.G2783A:p.R928Q,PC:NM_000920:exon19:c.G2783A:p.R928Q,PC:NM_001040716:exon20:c.G2783A:p.R928Q	Pyruvate carboxylase deficiency, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	868365	Pyruvate_carboxylase_deficiency|Inborn_genetic_diseases|not_provided	MONDO:MONDO:0009949,MedGen:C0034341,OMIM:266150,Orphanet:3008|MeSH:D030342,MedGen:C0950123|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.580	0.263062718131	.	.	9.946e-05	0	0	0.0001	0	0.0001	0	0.0001	7.76e-05	12	154602	rs755385132	7.733e-05	7.73e-05	7.626e-05	7.841e-05	5.486e-05	6.535e-05	6.138e-05	4.351e-05	3.944e-05	2.987e-05	4.472e-05	0.0014	2.519e-05	0	0	5.486e-05	0.0001	3.478e-05	0.0001	0.0001	7.707e-05	0.0002	0.0004	7.569e-05	6.275e-05	6.818e-05	2.854e-05	4.808e-05	0	6.534e-05	0.0020	0.0004	0	0	8.82e-05	0	0	0.472	0.23813	T	0.311	0.19660	T	0.844	0.46645	P	0.145	0.33871	B	0.000016	0.62929	D	0.112755	0.999999	0.81001	D	2.64	0.77224	M	-1.65	0.95663	D	-0.15	0.09297	N	0.459	0.57263	0.727	0.93511	D	0.798	0.93177	D	10	0.19054034	0.34701	T	0.263063	0.89585	D	0.580	0.83081	.	.	0.677097721695	0.67436	.	.	0.479610596857	0.46993	0.615346312523	0.55070	T	0.016811	0.63332	T	0.134557	0.67802	D	0.15816	0.80693	D	0.0778375294181796	0.09708	T	0.912209	0.68770	D	0.29591817	0.52537	0.19723655	0.43494	0.29591817	0.52536	0.19723655	0.43493	-5.618	0.42956	T	0.1537804285143798	0.18318	.	.	.	.;.;.;.	.;.;.;.	3.578176	0.50435	22.9	0.99860666548353283	0.93911	0.96481	0.69353	D	AEFDGBCI	0.809029	0.73264	D	0.450061728568953	0.64208	4.670066	0.488412338594218	0.67219	5.055021	0.99999999995137	0.74766	0.634777	0.41761	0	0.611049	0.52481	0	0.643519	0.47002	0	0.592323	0.36904	0	.	.	5.19	5.19	0.71428	4.563000	0.60539	7.620000	0.62269	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.398000	0.26737	0.0:1.0:0.0:0.0	16.258	0.82351	402	0.82617	Carboxylase, conserved domain;Carboxylase, conserved domain;Carboxylase, conserved domain;Carboxylase, conserved domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	2143.43	160	chr11	66850052	.	C	T	2143.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.22;DP=482;ExcessHet=0;FS=0.577;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.4;ReadPosRankSum=0.683;SOR=0.643	GT:AD:DP:GQ:PL	0/1:79,81:160:99:2155,0,1930	9	0	1	0
chr11	67435149	67435149	C	T	exonic	RPS6KB2	.	nonsynonymous SNV	RPS6KB2:NM_003952:exon15:c.C1429T:p.R477C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.223	0.0437727559247	.	.	5.393e-05	0.0002	0	0.0003	0	3.443e-05	0	0	3.88e-05	6	154602	rs772711337	2.087e-05	2.326e-05	1.798e-05	2.38e-05	0.0005	1.481e-05	1.285e-05	0.0003	0.0002	0	0	0	0.0005	0	0.0002	2.716e-06	6.711e-05	4.706e-05	7.88e-05	7.874e-05	6.426e-05	9.4e-05	0.0017	4.494e-05	3.51e-05	0.0009	0.0007	2.407e-05	0	6.533e-05	0	0.0017	0	0	1.47e-05	0	0	0.065	0.36310	T	0.056	0.46632	T	0.072	0.23997	B	0.008	0.13708	B	0.000048	0.53742	D	0.000000	0.998799	0.45457	D	1.355	0.33814	L	-0.39	0.69158	T	-0.86	0.23372	N	0.29	0.32812	-0.9224	0.45224	T	0.138	0.45451	T	10	0.059195817	0.07079	T	0.043773	0.61156	D	0.223	0.52023	0.412	0.44887	0.862958874889	0.86162	0.43783171151401423	0.43700	0.143716410938	0.16225	0.516103982925	0.41078	T	0.218758	0.58157	T	-0.286258	0.10016	T	-0.266998	0.48122	T	0.0911244530045322	0.11350	T	0.768523	0.39806	T	0.067720644	0.14692	0.047443755	0.06833	0.067720644	0.14692	0.047443755	0.06833	-6.504	0.50317	T	.	.	0.285	0.51712	B	.	.	3.249615	0.44396	21.9	0.99465285686888028	0.66049	0.76121	0.37310	D	AEFDGBHCI	0.467900	0.51493	N	-0.314068758560329	0.28612	1.579663	-0.135272867787862	0.33979	1.949564	0.999999981832007	0.74766	0.634777	0.41761	0	0.672317	0.65289	0	0.643519	0.47002	0	0.636168	0.56350	0	.	.	4.66	4.66	0.57857	1.058000	0.30114	1.774000	0.28659	-0.175000	0.10903	0.724000	0.28861	0.941000	0.28781	0.081000	0.17303	0.0:1.0:0.0:0.0	13.084	0.58543	658	0.62094	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	406.43	26	chr11	67435149	.	C	T	406.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.08;DP=284;ExcessHet=0;FS=1.657;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=15.63;ReadPosRankSum=1.33;SOR=0.339	GT:AD:DP:GQ:PL	0/1:11,15:26:99:418,0,230	9	0	1	0
chr11	67495482	67495482	G	C	exonic	PITPNM1	.	nonsynonymous SNV	PITPNM1:NM_001130848:exon16:c.C2435G:p.P812R,PITPNM1:NM_004910:exon16:c.C2438G:p.P813R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.065	0.00724735019992	7.7e-05	0.000998403	0.0018	0.0009	0	0	0	7.223e-05	0	0.0097	0.0004851	75	154602	rs151074608	0.0003	0.0003	0.0002	0.0004	0.0042	0.0003	0.0003	0.0038	0.0037	0.0011	0.0002	0	7.858e-05	2.025e-05	0.0005	3.781e-05	0.0005	0.0042	0.0003	0.0003	0.0003	0.0003	0.0023	0.0002	0.0002	0.0013	0.0010	0.0008	0	6.535e-05	0	0	0	0	1.471e-05	0	0.0023	0.156	0.24090	T	0.45	0.12957	T	0.144	0.27697	B	0.26	0.39460	B	0.281594	0.14935	N	0.584031	1	0.08975	N	0.345	0.11182	N	1.0	0.41750	T	-0.75	0.21003	N	0.156	0.19055	-0.9711	0.36967	T	0.064	0.26527	T	10	0.00445953	0.00092	T	0.007247	0.19225	T	0.065	0.18881	.	.	0.161926535498	0.15789	0.2751787321906441	0.27430	0.587132898061	0.54305	0.41989004612	0.27821	T	0.23357	0.60040	T	-0.534776	0.00360	T	-0.540679	0.18229	T	0.00632747376402742	0.00070	T	0.686731	0.29555	T	0.06595001	0.14143	0.07139473	0.15284	0.06595001	0.14143	0.07139473	0.15284	-4.358	0.29106	T	.	.	0.102	0.19032	B	.;.;.	.;.;.	2.805785	0.36920	20.4	0.91703405983067587	0.20998	0.30876	0.24194	N	AEFDGBI	0.185170	0.31250	N	-0.715981501695404	0.15573	0.7859687	-0.665502899219975	0.17826	0.9495798	0.997318842025457	0.35488	0.67177	0.52595	0	0.702456	0.74545	0	0.723109	0.80598	0	0.699875	0.68795	0	.	.	3.97	3.02	0.33970	1.911000	0.39567	6.726000	0.56443	0.676000	0.76740	0.021000	0.19753	0.998000	0.33993	0.972000	0.54974	0.0:0.0:0.771:0.229	10.018	0.41199	759	0.50631	DDHD domain|DDHD domain|DDHD domain;.;DDHD domain|DDHD domain|DDHD 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	0.000509	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.05	687.43	72	chr11	67495482	.	G	C	687.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.409;DP=393;ExcessHet=0;FS=1.91;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.55;ReadPosRankSum=-0.922;SOR=0.84	GT:AD:DP:GQ:PL	0/1:39,33:72:99:699,0,937	9	0	1	0
chr11	71480845	71480845	G	A	exonic	NADSYN1	.	nonsynonymous SNV	NADSYN1:NM_018161:exon11:c.G964A:p.E322K	.	432	1088	2	0	0	2	0.000918274	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.021	0.00487910327781	.	0.00119808	0.0003	9.634e-05	0.0003	0.0028	0	0	0	0.0007	0.0003428	53	154602	rs138969547	0.0002	0.0002	0.0001	0.0002	0.0023	0.0002	0.0002	0.0020	0.0018	8.961e-05	0.0001	0	0.0023	0	0.0002	5.396e-05	0.0004	0.0008	0.0003	0.0003	0.0003	0.0002	0.0035	0.0002	0.0002	0.0023	0.0019	0.0001	0	0.0005	0	0.0035	0	0	2.94e-05	0.0005	0.0008	0.45	0.08996	T	0.511	0.10785	T	0.028	0.19712	B	0.016	0.17743	B	0.056501	0.22556	N	0.454317	0.99816	0.44581	D	1.3	0.32576	L	1.0	0.41392	T	-2.06	0.47175	N	0.391	0.43223	-1.0638	0.10831	T	0.071	0.29066	T	10	0.009809256	0.00220	T	0.004879	0.12255	T	0.021	0.04004	.	.	0.450248222533	0.44647	0.31706720317148024	0.31619	0.192125319387	0.21544	0.476927310228	0.35634	T	0.025349	0.18971	T	-0.510618	0.00498	T	-0.508034	0.21517	T	0.0302879415124817	0.02035	T	0.946705	0.79569	D	0.074165486	0.16626	0.04744188	0.06833	0.074165486	0.16626	0.04744188	0.06833	-7.892	0.60332	D	0.13708531167825502	0.15050	0.065	0.01960	B	.	.	2.500418	0.32279	18.99	0.97421627275056066	0.33880	0.66695	0.33168	D	AEFDBCI	0.189110	0.31638	N	-0.304198365470147	0.28989	1.603595	-0.258762481670348	0.29470	1.651354	0.381360808641091	0.19963	0.719381	0.83141	0	0.702456	0.74545	0	0.723133	0.82415	0	0.714379	0.83352	0	.	.	4.94	1.82	0.24209	2.563000	0.45585	.	.	0.676000	0.76740	1.000000	0.71638	0.002000	0.18203	0.810000	0.38174	0.1039:0.5112:0.3848:0.0	7.829	0.28492	628	0.65206	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.05	1022.43	114	chr11	71480845	.	G	A	1022.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.78;DP=445;ExcessHet=0;FS=3.571;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.97;ReadPosRankSum=-0.316;SOR=0.435	GT:AD:DP:GQ:PL	0/1:73,41:114:99:1034,0,1914	9	0	1	0
chr11	71527509	71527509	G	C	exonic	KRTAP5-7	.	nonsynonymous SNV	KRTAP5-7:NM_001012503:exon1:c.G209C:p.C70S	.	425	1080	14	3	0	20	0.00917431	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.069	0.00160004821466	0.0009	0.000998403	0.0015	0.0003	0.0008	0	0	0.0018	0	0.0031	0.0013519	209	154602	rs199516478	0.0009	0.0009	0.0008	0.0010	0.0077	0.0008	0.0008	0.0058	0.0051	0.0002	0.0006	0.0091	0	0.0001	0.0077	0.0006	0.0014	0.0027	0.0010	0.0010	0.0011	0.0008	0.0021	0.0009	0.0008	0.0011	0.0009	9.695e-05	0	0.0013	0.0127	0	9.477e-05	0.0034	0.0009	0.0024	0.0021	0.0	0.91255	D	0.083	0.41405	T	0.871	0.47859	P	0.135	0.33210	B	.	.	.	.	0.991795	0.23982	N	2.875	0.83380	M	4.64	0.01799	T	-1.21	0.30762	N	0.214	0.23884	-0.9648	0.38250	T	0.006	0.01870	T	9	0.0050088167	0.00108	T	0.002	0.02574	T	0.069	0.20116	0.249	0.18602	0.043077524339	0.03247	0.024086599645979756	0.02359	0.0114129139534	0.01068	.	.	.	0.005037	0.04473	T	-0.479888	0.00740	T	-0.465153	0.26041	T	0.0765461762820738	0.09539	T	0.207979	0.02486	T	0.7362873	0.80080	0.5179825	0.72150	0.7362873	0.80082	0.5179825	0.72151	-11.531	0.82492	D	.	.	0.27	0.50417	B	.	.	1.657634	0.21145	15.07	0.75624857324298111	0.11147	0.37596	0.25797	N	AEFDBCI	0.146731	0.27024	N	-0.20482667406607	0.32935	1.862953	-0.256948208885445	0.29533	1.655342	0.639059402723984	0.22036	0.516011	0.20929	0	0.610034	0.51514	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	2.46	2.46	0.29032	2.662000	0.46431	.	.	0.327000	0.19478	0.324000	0.25538	0.749000	0.26537	0.025000	0.12405	0.1709:0.0:0.8291:0.0	5.810	0.17722	603	0.67726	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.005808	0.005051	0.008152	0.016000	0.050000	0.000000	0.000000	0.000000	0.05	1680.43	143	chr11	71527509	.	G	C	1680.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.899;DP=896;ExcessHet=0;FS=7.453;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=59.9;MQRankSum=0.98;QD=11.75;ReadPosRankSum=0.014;SOR=0.339	GT:AD:DP:GQ:PL	0/1:74,69:143:99:1692,0,2147	9	0	1	0
chr11	72707261	72707261	G	C	exonic	ARAP1	.	nonsynonymous SNV	ARAP1:NM_001135190:exon10:c.C902G:p.P301R,ARAP1:NM_001369489:exon10:c.C902G:p.P301R,ARAP1:NM_015242:exon10:c.C902G:p.P301R,ARAP1:NM_001040118:exon12:c.C1637G:p.P546R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.072	0.0111529429734	.	.	0.0003	0	0	0	0	0	0	0.0021	0.0001876	29	154602	rs200795098	0.0001	0.0001	5.994e-05	0.0002	0.0018	9.813e-05	9.229e-05	0.0015	0.0015	0	0	0	2.522e-05	0	0.0004	7.197e-06	1.657e-05	0.0018	4.594e-05	4.593e-05	1.284e-05	8.054e-05	0.0010	2.107e-05	1.525e-05	0.0004	0.0003	0	0	0	0	0	0	0	2.94e-05	0	0.0010	0.013	0.57480	D	0.002	0.79402	D	0.631	0.40217	P	0.244	0.38795	B	0.005522	0.32720	N	0.290298	0.567788	0.31203	N	1.04	0.26193	L	1.04	0.40218	T	-2.07	0.47344	N	0.375	0.47301	-0.8143	0.54288	T	0.099	0.36882	T	10	0.068202615	0.09614	T	0.011153	0.28477	T	0.072	0.21020	0.571	0.69431	0.388812400583	0.38497	0.39529748918512464	0.39444	0.615807059448	0.56063	0.452424734831	0.32275	T	0.084865	0.37373	T	-0.393413	0.02556	T	-0.367966	0.37126	T	0.133744613962502	0.15723	T	0.957954	0.84201	D	0.15275438	0.34659	0.13087527	0.31437	0.15275438	0.34659	0.13087527	0.31436	-10.28	0.76271	D	.	.	0.129	0.38711	B	.;.;.;.;.;.	.;.;.;.;.;.	3.703448	0.52832	23.3	0.99676297989367746	0.78912	0.94373	0.60959	D	AEFGBI	0.346532	0.44132	N	0.0621063225565731	0.44702	2.739408	0.174236628021113	0.48438	3.059866	0.999815661526018	0.43459	0.706548	0.73137	0	0.702456	0.74545	0	0.26897	0.05253	2	0.714379	0.83352	0	.	.	4.48	4.48	0.53973	3.518000	0.53208	8.594000	0.77699	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.895000	0.43227	0.0:0.0:1.0:0.0	15.895	0.79110	449	0.79428	.;.;.;Arf GTPase activating protein|Arf GTPase activating protein|Arf GTPase activating protein;Arf GTPase activating protein|Arf GTPase activating protein|Arf GTPase activating protein;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	883.43	66	chr11	72707261	.	G	C	883.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.17;DP=380;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.39;ReadPosRankSum=-1.001;SOR=0.582	GT:AD:DP:GQ:PL	0/1:33,33:66:99:895,0,870	9	0	1	0
chr11	73968409	73968409	G	A	exonic	DNAJB13	.	nonsynonymous SNV	DNAJB13:NM_153614:exon6:c.G671A:p.R224H,DNAJB13:NM_001377263:exon7:c.G497A:p.R166H	Ciliary dyskinesia, primary, 34, Autosomal recessive	427	1092	3	0	0	3	0.00137174	.	.	.	713160	not_provided|Cough	MedGen:C3661900|Human_Phenotype_Ontology:HP:0012735,MedGen:C0010200	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.204	0.0789219970916	0.0038	0.000599042	0.0032	0.0011	0.0026	0	0.0014	0.0050	0.0022	0.0004	0.0035122	543	154602	rs147921001	0.0049	0.0049	0.0050	0.0047	0.0059	0.0048	0.0047	0.0057	0.0057	0.0010	0.0028	0.0001	2.519e-05	0.0021	0.0021	0.0059	0.0047	0.0003	0.0035	0.0035	0.0038	0.0033	0.0060	0.0033	0.0032	0.0055	0.0053	0.0012	0.0022	0.0026	0	0	0.0027	0.0034	0.0060	0.0043	0.0002	0.034	0.44029	D	0.009	0.66756	D	0.563	0.38396	P	0.081	0.28987	B	0.004046	0.34172	N	0.325774	0.864898	0.29192	N	2.32	0.66415	M	0.83	0.47815	T	-2.71	0.57762	D	0.387	0.42834	-0.7892	0.55776	T	0.088	0.34133	T	10	0.026716858	0.00832	T	0.078922	0.73116	D	0.204	0.49076	.	.	0.588082203375	0.58483	0.3847448005600294	0.38389	0.310688442189	0.33380	0.465925395489	0.34122	T	0.073734	0.34768	T	-0.435007	0.01384	T	-0.393489	0.34142	T	0.025827139741923	0.01382	T	0.921208	0.72041	D	0.116691545	0.27520	0.08889295	0.20755	0.11710543	0.27613	0.08738388	0.20307	-7.448	0.57243	T	0.18673874751455136	0.24320	0.096	0.27553	B	.;.;.	.;.;.	4.113361	0.61430	24.3	0.99858134068463411	0.93639	0.54273	0.29575	D	AEFDBCI	0.245647	0.36654	N	0.2118729314998	0.51773	3.356081	0.294554538480526	0.55220	3.68534	0.99978028436012	0.43007	0.660377	0.49826	0	0.694456	0.67091	0	0.536957	0.11973	0	0.613276	0.41899	0	.	.	5.23	5.23	0.72570	1.918000	0.39636	9.811000	0.81748	0.648000	0.52827	1.000000	0.71638	1.000000	0.68203	0.959000	0.51448	0.1695:0.0:0.8305:0.0	8.210	0.30638	262	0.89730	Chaperone DnaJ, C-terminal;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002518	0.020202	0.002717	0.002924	0.000000	0.000000	0.000000	0.003788	0.05	3329.43	248	chr11	73968409	.	G	A	3329.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.513;DP=576;ExcessHet=0;FS=4.317;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.43;ReadPosRankSum=-0.003;SOR=0.478	GT:AD:DP:GQ:PL	0/1:120,128:248:99:3341,0,2967	9	0	1	0
chr11	74057414	74057414	C	A	exonic	C2CD3	.	nonsynonymous SNV	C2CD3:NM_001286577:exon25:c.G5082T:p.Q1694H,C2CD3:NM_015531:exon25:c.G5082T:p.Q1694H	.	433	1084	5	0	0	5	0.00230097	.	.	.	713165	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.087	0.00600807042247	0.0042	0.000798722	0.0032	0.0010	0.0027	0	0.0014	0.0049	0.0022	0.0003	0.0033829	523	154602	rs142214951	0.0051	0.0051	0.0052	0.0050	0.0061	0.0050	0.0050	0.0060	0.0060	0.0009	0.0034	0.0001	2.519e-05	0.0023	0.0023	0.0061	0.0049	0.0003	0.0037	0.0037	0.0039	0.0035	0.0064	0.0035	0.0034	0.0059	0.0057	0.0013	0.0022	0.0027	0	0	0.0028	0	0.0064	0.0057	0.0002	0.273	0.17881	T	0.443	0.26386	T	0.001	0.07471	B	0.004	0.10090	B	0.000013	0.62929	N	0.120255	0.603407	0.32558	D	0.92	0.23413	L	1.0	0.41392	T	-0.75	0.27463	N	0.292	0.33578	-1.0391	0.17587	T	0.047	0.19998	T	10	0.0043418407	0.00088	T	0.006008	0.15698	T	0.087	0.25287	0.345	0.33950	0.165133752707	0.16062	0.41408200645514487	0.41324	0.0931662067262	0.10528	0.495082676411	0.38143	T	0.107833	0.42037	T	-0.525843	0.00406	T	-0.523969	0.19894	T	0.00221659369988044	0.00023	T	0.732227	0.36599	T	0.06873279	0.14997	0.050011054	0.07760	0.09343637	0.21945	0.043951396	0.05585	-6.887	0.55237	T	0.39549794396042	0.48808	0.166	0.36653	B	.;.;.	.;.;.	1.588183	0.20318	14.69	0.91898239881090904	0.21218	0.45061	0.27455	N	AEFDGBHCI	0.210886	0.33673	N	-0.562385963830552	0.20096	1.056949	-0.4155327824535	0.24542	1.344445	0.999999999897464	0.74766	0.740787	0.97801	0	0.653731	0.59785	0	0.709663	0.75317	0	0.673998	0.66042	0	.	.	5.13	2.15	0.26590	-0.279000	0.08512	-0.442000	0.09154	-0.228000	0.07776	0.644000	0.28119	0.051000	0.21832	0.980000	0.58198	0.0:0.5956:0.2566:0.1478	7.471	0.26519	319	0.87030	C2 domain|C2 domain;.;C2 domain|C2 domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.003021	0.025253	0.002717	0.005848	0.000000	0.000000	0.000000	0.003788	0.05	1720.43	166	chr11	74057414	.	C	A	1720.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.312;DP=478;ExcessHet=0;FS=1.966;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.36;ReadPosRankSum=0.291;SOR=0.882	GT:AD:DP:GQ:PL	0/1:95,71:166:99:1732,0,2451	9	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,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	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	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.014706	0.005319	0.024194	0.013274	0.000000	0.000000	0.011765	0.037500	0.05	2170.43	169	chr11	74492211	.	T	A	2170.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.58;DP=496;ExcessHet=0;FS=2.711;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.84;ReadPosRankSum=-0.62;SOR=0.488	GT:AD:DP:GQ:PL	0/1:92,77:169:99:2182,0,2614	9	0	1	0
chr11	77667305	77667305	T	C	exonic	RSF1	.	nonsynonymous SNV	RSF1:NM_016578:exon16:c.A3938G:p.N1313S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.174	0.022915856132	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1239899669	1.163e-05	1.163e-05	8.167e-06	1.513e-05	0.0002	7.08e-06	5.79e-06	8.1e-06	6.42e-06	0	0	0	0	0	0.0002	1.349e-05	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.155	0.24372	T	0.757	0.04686	T	0.006	0.13644	B	0.005	0.11217	B	0.051053	0.23016	N	0.371680	0.867713	0.30104	N	0.69	0.16971	N	-1.94	0.85003	D	-0.94	0.27259	N	0.086	0.13626	-0.7199	0.59468	T	0.347	0.71155	T	10	0.07324448	0.11041	T	0.022916	0.45849	T	0.174	0.44019	0.103	0.01643	0.621967643588	0.61889	0.01751648041663879	0.01706	0.137814645192	0.15535	0.404495358467	0.25694	T	0.005707	0.05159	T	-0.170662	0.25134	T	-0.48292	0.24136	T	0.031799617127788	0.02274	T	0.775622	0.40735	T	0.03273859	0.03357	0.0408296	0.04502	0.03273859	0.03356	0.0408296	0.04502	-1.837	0.02622	T	.	.	0.064	0.01692	B	.;.	.;.	1.429434	0.18473	13.76	0.96527004801271332	0.30136	0.91991	0.54704	D	AEFGBI	0.157147	0.28261	N	-0.492204164982822	0.22336	1.191928	-0.349280134213057	0.26532	1.466064	0.0202823502471931	0.13243	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.13	1.49	0.21966	0.873000	0.27702	1.210000	0.24900	0.665000	0.62972	0.723000	0.28851	1.000000	0.68203	0.780000	0.36908	0.0:0.3035:0.0:0.6965	8.816	0.34157	440	0.80101	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	1956.43	155	chr11	77667305	.	T	C	1956.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-3.472;DP=473;ExcessHet=0;FS=2.83;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.62;ReadPosRankSum=0.791;SOR=0.853	GT:AD:DP:GQ:PL	0/1:80,75:155:99:1968,0,2365	9	0	1	0
chr11	90086558	90086558	G	C	exonic	UBTFL1	.	nonsynonymous SNV	UBTFL1:NM_001143975:exon1:c.G609C:p.R203S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0005	0.0016	0.0005	0.0005	0.0006	0.0005	0.0004	0.0006	0.0005	0.0003	0	0.0002	0	0	0.0006	0.0006	0.0005	0.0001	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.16	0.31427	T	0.02	0.18235	B	0.024	0.20255	B	.	.	.	.	.	.	.	1.845	0.48678	L	.	.	.	.	.	.	0.177	0.19055	.	.	.	.	.	.	.	0.07897973	0.12652	T	.	.	.	.	.	.	.	0.0666544352282	0.05500	0.20041654349623925	0.19958	.	.	0.434744000435	0.29857	T	0.02618	0.19424	T	-0.0652308	0.42086	T	-0.331476	0.41304	T	.	.	.	0.258474	0.04102	T	0.19470586	0.41231	0.14969048	0.35334	0.19470586	0.41231	0.14969048	0.35333	-1.725	0.02295	T	.	.	0.158	0.34949	B	.	.	0.764181	0.11341	7.959	0.48982207246768944	0.04133	0.11168	0.16454	N	AEFI	.	.	.	.	.	.	.	.	.	1.24664943251294E-6	0.01202	0.061011	0.01085	0	0.063388	0.01293	0	0.063197	0.01477	0	0.057018	0.00518	0	0.0414318	0.01019	1.06	1.06	0.19341	1.319000	0.33260	-1.431000	0.05455	0.311000	0.19140	0.058000	0.21700	0.000000	0.08366	0.034000	0.13613	0.0:0.0:0.6123:0.3877	4.372	0.10686	911	0.21964	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2143	167.97	59	chr11	90086558	.	G	C	167.97	.	AC=3;AF=0.214;AN=14;BaseQRankSum=-1.036;DP=306;ExcessHet=0.8432;FS=77.195;InbreedingCoeff=-0.3037;MLEAC=3;MLEAF=0.214;MQ=35.27;MQRankSum=-1.185;QD=1.53;ReadPosRankSum=0.814;SOR=6.439	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:52,7:59:10:0|1:90086557_G_C:10,0,2059:90086557	4	0	3	3
chr11	90086559	90086559	T	C	exonic	UBTFL1	.	nonsynonymous SNV	UBTFL1:NM_001143975:exon1:c.T610C:p.S204P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0012	0.0034	0.0014	0.0010	0.0015	0.0011	0.0011	0.0014	0.0014	0.0007	6.138e-05	0.0003	0.0002	0	0.0015	0.0015	0.0009	0.0003	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.167	0.30729	T	0.114	0.26387	B	0.055	0.25995	B	.	.	.	.	.	.	.	1.81	0.47622	L	.	.	.	.	.	.	0.184	0.19995	.	.	.	.	.	.	.	0.09870526	0.17865	T	.	.	.	.	.	.	.	0.0762999501168	0.06990	0.206982614041448	0.20614	.	.	0.471310138702	0.34860	T	0.051993	0.29036	T	-0.036046	0.46533	T	-0.289554	0.45819	T	.	.	.	0.212979	0.02609	T	0.15890183	0.35723	0.25574014	0.51261	0.15890183	0.35723	0.25574014	0.51260	-4.303	0.28219	T	.	.	0.081	0.08272	B	.	.	1.230443	0.16252	12.42	0.61155269003408275	0.06639	0.12260	0.17159	N	AEFI	.	.	.	.	.	.	.	.	.	2.32955600745505E-6	0.01202	0.061011	0.01085	0	0.063388	0.01293	0	0.063197	0.01477	0	0.057018	0.00518	0	0.0414318	0.01019	1.06	1.06	0.19341	0.059000	0.14199	-0.821000	0.07295	0.305000	0.19019	0.018000	0.19461	0.000000	0.08366	0.048000	0.15020	0.0:0.0:0.0:1.0	6.324	0.20441	911	0.21964	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2143	101.28	59	chr11	90086559	.	T	C	101.28	.	AC=3;AF=0.214;AN=14;BaseQRankSum=-1.17;DP=296;ExcessHet=0.8432;FS=51.788;InbreedingCoeff=-0.3196;MLEAC=4;MLEAF=0.286;MQ=35.44;MQRankSum=-1.083;QD=0.93;ReadPosRankSum=1.39;SOR=5.783	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:52,7:59:10:0|1:90086557_G_C:10,0,2059:90086557	4	0	3	3
chr11	100297678	100297678	T	A	exonic	CNTN5	.	nonsynonymous SNV	CNTN5:NM_175566:exon16:c.T2146A:p.L716I,CNTN5:NM_001243270:exon18:c.T2368A:p.L790I,CNTN5:NM_001243271:exon19:c.T2368A:p.L790I,CNTN5:NM_014361:exon19:c.T2368A:p.L790I	.	431	1080	11	0	0	11	0.00506679	.	.	.	3213472	CNTN5-related_disorder	.	no_assertion_criteria_provided	Benign	.	.	.	.	.	.	.	.	0.330	.	0.0062	0.00159744	0.0097	0.0018	0.0018	0	0.0130	0.0134	0.0066	0.0088	0.0067205	1039	154602	rs141228828	0.0093	0.0093	0.0094	0.0091	0.0107	0.0092	0.0091	0.0106	0.0105	0.0011	0.0015	0.0001	7.618e-05	0.0090	0.0084	0.0107	0.0072	0.0065	0.0062	0.0062	0.0065	0.0059	0.0098	0.0059	0.0057	0.0092	0.0089	0.0015	0	0.0037	0	0	0.0110	0.0102	0.0098	0.0033	0.0066	0.02	0.91255	D	0.0	0.92824	D	0.235	0.30743	B	0.072	0.28043	B	0.000000	0.84330	D	0.000000	0.998974	0.45795	D	1.755	0.45626	L	0.21	0.59983	T	-1.76	0.42575	N	0.731	0.79792	-0.8277	0.53448	T	0.142	0.46257	T	10	0.0114889145	0.00251	T	.	.	.	0.330	0.65226	.	.	0.362160248664	0.35833	0.4548320535589682	0.45401	0.271544627046	0.29673	0.735427737236	0.72301	T	0.317153	0.68863	T	-0.276512	0.11040	T	-0.157643	0.58563	T	0.025685362899914	0.01363	T	0.993026	0.97738	D	0.65898806	0.75845	0.4084915	0.65165	0.65898806	0.75846	0.4084915	0.65165	-8.591	0.72163	D	.	.	0.168	0.42906	B	.;.;.;.;.;.	.;.;.;.;.;.	1.847466	0.23471	16.03	0.97289887814310527	0.33228	0.85885	0.45071	D	AEFDGIJ	0.302764	0.41092	N	-0.740074647032995	0.14904	0.7464821	-0.762959083136581	0.15405	0.8099994	0.186479893265856	0.17943	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.97	-3.19	0.04853	0.408000	0.20787	-1.509000	0.05279	-0.703000	0.04025	0.991000	0.37257	0.000000	0.08366	0.751000	0.35822	0.0:0.5481:0.0:0.4519	13.656	0.61814	917	0.20147	.;Fibronectin type III|Fibronectin type III|Fibronectin type III;Fibronectin type III|Fibronectin type III|Fibronectin type III;.;Fibronectin type III|Fibronectin type III|Fibronectin type III;Fibronectin type III|Fibronectin type III|Fibronectin type III	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.011089	0.005051	0.010870	0.023392	0.000000	0.017241	0.003067	0.011364	0.05	800.43	89	chr11	100297678	.	T	A	800.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=4.18;DP=459;ExcessHet=0;FS=7.708;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.99;ReadPosRankSum=1.1;SOR=1.559	GT:AD:DP:GQ:PL	0/1:61,28:89:99:812,0,1597	9	0	1	0
chr11	101127728	101127728	A	G	exonic	PGR	.	nonsynonymous SNV	PGR:NM_000926:exon1:c.T1343C:p.V448A,PGR:NM_001202474:exon1:c.T851C:p.V284A,PGR:NM_001271161:exon1:c.T851C:p.V284A	.	0	1516	6	0	0	6	0.00197498	.	.	.	2338921	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.109	0.0409945393989	0.0004	.	0.0005	0	0	0	0	0.0005	0	0.0009	0.0001682	26	154602	rs372127017	0.0002	0.0002	0.0002	0.0003	0.0007	0.0002	0.0002	0.0006	0.0005	0	6.998e-05	0	0	0	0.0005	0.0002	0.0003	0.0007	0.0002	0.0002	0.0002	0.0002	0.0004	0.0001	9.72e-05	0.0002	0.0002	2.41e-05	0	0.0001	0	0	0	0.0034	0.0003	0	0.0004	0.447	0.16144	T	0.543	0.13912	T	0.004	0.12183	B	0.004	0.10090	B	0.000604	0.00648	N	756.024000	1	0.08975	N	1.455	0.36767	L	3.16	0.07711	T	-0.5	0.24026	N	0.09	0.07673	-1.0093	0.27136	T	0.016	0.06521	T	10	0.03369063	0.01552	T	0.040995	0.59686	D	0.109	0.30843	.	.	0.339440827056	0.33553	0.1645580229179208	0.16375	.	.	0.847831130028	0.89286	D	0.075366	0.35161	T	-0.613495	0.00121	T	-0.743175	0.03758	T	0.0130986220235572	0.00230	T	0.563744	0.21138	T	0.017688388	0.00294	0.025443757	0.00590	0.017688388	0.00293	0.025443757	0.00590	-0.544	0.00627	T	.	.	0.102	0.25817	B	.;.;.;.	.;.;.;.	0.299618	0.06756	3.268	0.54952061656926587	0.05242	0.02156	0.06336	N	AEFDBCI	0.015800	0.00319	N	-1.20008862031781	0.05000	0.2269099	-1.25479129873196	0.05060	0.240232	0.999990747974145	0.74766	0.623204	0.39778	0	0.563428	0.19063	0	0.378051	0.06126	2	0.554799	0.18163	0	.	.	3.77	-0.419	0.11725	-0.105000	0.10876	-0.642000	0.08072	0.624000	0.51786	0.001000	0.13787	0.000000	0.08366	0.015000	0.10482	0.2101:0.3588:0.2757:0.1553	1.369	0.02075	893	0.26510	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001534	0.000000	0.001359	0.002924	0.000000	0.000000	0.000000	0.000000	0.05	1104.43	111	chr11	101127728	.	A	G	1104.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.623;DP=449;ExcessHet=0;FS=5.927;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.95;ReadPosRankSum=0.027;SOR=1.225	GT:AD:DP:GQ:PL	0/1:61,50:111:99:1116,0,1464	9	0	1	0
chr11	102866318	102866318	-	A	exonic	MMP12	.	stopgain	MMP12:NM_002426:exon7:c.1041dupT:p.K348*	.	438	1083	0	1	0	2	0.000922509	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0003	0	0	0	0	0	0	0.0013	9.06e-05	14	154602	rs781869098	7.172e-05	7.319e-05	3.481e-05	0.0001	0.0012	6.009e-05	5.609e-05	0.0010	0.0009	0	0	0	0	0	0	9.156e-07	0.0001	0.0012	2.626e-05	2.624e-05	2.569e-05	2.685e-05	0.0006	8.14e-06	5.14e-06	0.0002	8.989e-05	2.405e-05	0	0	0	0	0	0	0	0	0.0006	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	368.39	31	chr11	102866318	.	T	TA	368.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.36;DP=302;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.88;ReadPosRankSum=-0.316;SOR=0.593	GT:AD:DP:GQ:PL	0/1:16,15:31:99:380,0,416	9	0	1	0
chr11	106010659	106010659	C	T	exonic	MSANTD4	.	nonsynonymous SNV	MSANTD4:NM_001318747:exon2:c.G259A:p.A87T,MSANTD4:NM_001318748:exon2:c.G259A:p.A87T,MSANTD4:NM_001318749:exon2:c.G259A:p.A87T,MSANTD4:NM_001318750:exon2:c.G259A:p.A87T,MSANTD4:NM_032424:exon2:c.G259A:p.A87T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.144	0.0031863420769	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.284	0.25457	T	0.456	0.54934	T	0.002	0.09854	B	0.003	0.08700	B	0.000011	0.62929	D	0.111292	0.991109	0.41309	D	0.55	0.14455	N	.	.	.	-1.05	0.27463	N	0.139	0.13769	-0.8825	0.49561	T	0.177	0.52240	T	9	0.14178061	0.26937	T	0.003186	0.06966	T	0.144	0.38394	0.324	0.30549	0.333651784274	0.32972	0.3745214875372276	0.37366	0.306637953789	0.32968	0.538885176182	0.44288	T	0.040073	0.25406	T	-0.0969372	0.36933	T	-0.37702	0.36071	T	0.432566970586777	0.30156	T	0.762724	0.38847	T	0.054357305	0.10418	0.07319845	0.15878	0.054357305	0.10417	0.07319845	0.15878	-3.821	0.21119	T	.	.	0.078	0.06663	B	.;.;.	.;.;.	3.124977	0.42209	21.5	0.99583064835214086	0.73099	0.90270	0.51314	D	AEFGBI	0.218300	0.34332	N	-0.0132163549372124	0.41258	2.464544	0.177121742542613	0.48595	3.073425	0.999902434550218	0.45458	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.88	5.88	0.94564	1.369000	0.33832	4.008000	0.41136	-0.176000	0.10722	1.000000	0.71638	1.000000	0.68203	0.977000	0.56843	0.145:0.7831:0.0:0.0719	9.319	0.37114	725	0.54935	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3125	4213.63	178	chr11	106010659	.	C	T	4213.63	.	AC=5;AF=0.313;AN=16;BaseQRankSum=-4.629;DP=1435;ExcessHet=7.0302;FS=291.532;InbreedingCoeff=-0.6439;MLEAC=5;MLEAF=0.313;MQ=60;MQRankSum=0;QD=3.87;ReadPosRankSum=3.04;SOR=11.234	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:132,30:178:99:.:.:1328,0,5020:.	3	0	5	2
chr11	106010660	106010660	C	G	exonic	MSANTD4	.	nonsynonymous SNV	MSANTD4:NM_001318747:exon2:c.G258C:p.K86N,MSANTD4:NM_001318748:exon2:c.G258C:p.K86N,MSANTD4:NM_001318749:exon2:c.G258C:p.K86N,MSANTD4:NM_001318750:exon2:c.G258C:p.K86N,MSANTD4:NM_032424:exon2:c.G258C:p.K86N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.035	0.00140864098182	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.794e-06	5.338e-05	6.814e-06	2.753e-06	1.16e-05	1.99e-06	1.28e-06	1.32e-06	9.6e-07	0	0	0	0	0	0	4.502e-06	1.657e-05	1.16e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.628	0.09572	T	0.455	0.12776	T	0.001	0.07471	B	0.002	0.06944	B	0.000777	0.41888	D	0.252245	0.672182	0.30354	N	1.1	0.28011	L	.	.	.	-0.42	0.25986	N	0.046	0.01825	-1.0800	0.07349	T	0.039	0.16935	T	9	0.07250753	0.10832	T	0.001409	0.02088	T	0.035	0.08770	0.333	0.32005	0.180583059064	0.17676	0.42697714804244885	0.42614	0.368530488454	0.38403	0.557739257812	0.46948	T	0.028728	0.20742	T	-0.209044	0.19513	T	-0.538054	0.18489	T	0.29334169626236	0.24729	T	0.788921	0.43637	T	0.06988713	0.15349	0.040901218	0.04526	0.06988713	0.15349	0.040901218	0.04526	-4.897	0.35701	T	.	.	0.261	0.51359	B	.;.;.	.;.;.	2.485158	0.32052	18.93	0.96605095872499003	0.30423	0.93307	0.57867	D	AEFGBI	0.282833	0.39607	N	-0.459278369652404	0.23427	1.257956	-0.24408778769958	0.29975	1.683831	0.956715357216671	0.28262	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.88	3.03	0.34070	0.769000	0.26267	2.724000	0.34335	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.986000	0.61781	0.2344:0.4203:0.1184:0.227	1.144	0.01662	725	0.54935	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	4930.37	202	chr11	106010660	.	C	G	4930.37	.	AC=7;AF=0.5;AN=14;BaseQRankSum=-3.122;DP=1478;ExcessHet=7.0302;FS=301.82;InbreedingCoeff=-0.7391;MLEAC=8;MLEAF=0.571;MQ=60;MQRankSum=0;QD=4.41;ReadPosRankSum=3.03;SOR=11.414	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:133,69:202:99:0|1:106010660_C_G:1610,0,5019:106010660	0	0	7	3
chr11	106010663	106010663	C	T	exonic	MSANTD4	.	nonsynonymous SNV	MSANTD4:NM_001318747:exon2:c.G255A:p.M85I,MSANTD4:NM_001318748:exon2:c.G255A:p.M85I,MSANTD4:NM_001318749:exon2:c.G255A:p.M85I,MSANTD4:NM_001318750:exon2:c.G255A:p.M85I,MSANTD4:NM_032424:exon2:c.G255A:p.M85I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.047	0.00279040284091	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.032	0.44694	D	0.465	0.47097	T	0.002	0.09854	B	0.004	0.10090	B	0.000001	0.84330	D	0.055431	0.902327	0.36202	D	-0.69	0.01958	N	.	.	.	-0.5	0.23156	N	0.133	0.12913	-0.9843	0.33998	T	0.104	0.38218	T	9	0.1143381	0.21509	T	0.00279	0.05810	T	0.047	0.12962	0.294	0.25720	0.256793551483	0.25290	0.12417175146048018	0.12343	0.345896987908	0.36490	0.592615962029	0.51864	T	0.021651	0.16823	T	-0.0923724	0.37684	T	-0.370463	0.36834	T	0.580747902393341	0.35647	D	0.831217	0.49813	T	0.22625625	0.45303	0.16779238	0.38690	0.22625625	0.45303	0.16779238	0.38689	-3.688	0.19141	T	.	.	0.249	0.48345	B	.;.;.	.;.;.	3.089872	0.41597	21.4	0.98105666193469465	0.38310	0.97626	0.75993	D	AEFGBI	0.400041	0.47508	N	-0.174858718993864	0.34183	1.948093	0.081881515894591	0.43638	2.661421	0.99999720305351	0.74766	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.88	5.88	0.94564	1.803000	0.38500	5.949000	0.51615	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.8636:0.1364:0.0	15.669	0.77014	725	0.54935	Myb/SANT-like DNA-binding domain;Myb/SANT-like DNA-binding domain;Myb/SANT-like DNA-binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1667	3027.84	181	chr11	106010663	.	C	T	3027.84	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-4.348;DP=1258;ExcessHet=0.7463;FS=299.408;InbreedingCoeff=-0.3333;MLEAC=3;MLEAF=0.25;MQ=60;MQRankSum=0;QD=5.94;ReadPosRankSum=4.3;SOR=9.869	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:135,30:181:99:.:.:1320,0,5076:.	4	0	2	4
chr11	106010664	106010664	A	G	exonic	MSANTD4	.	nonsynonymous SNV	MSANTD4:NM_001318747:exon2:c.T254C:p.M85T,MSANTD4:NM_001318748:exon2:c.T254C:p.M85T,MSANTD4:NM_001318749:exon2:c.T254C:p.M85T,MSANTD4:NM_001318750:exon2:c.T254C:p.M85T,MSANTD4:NM_032424:exon2:c.T254C:p.M85T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.101	0.00433488665054	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.369e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.65419	D	0.019	0.69154	D	0.007	0.14184	B	0.034	0.22546	B	0.000001	0.84330	D	0.055431	0.974346	0.39097	D	0	0.06538	N	.	.	.	-0.98	0.25986	N	0.258	0.29197	-0.9720	0.36776	T	0.117	0.41209	T	9	0.18700442	0.34192	T	0.004335	0.10529	T	0.101	0.28911	0.307	0.27806	0.379881503574	0.37595	0.25955710480305316	0.25869	0.399169766946	0.40951	0.666570842266	0.62349	T	0.035133	0.23597	T	0.00410563	0.52221	T	-0.231879	0.51589	T	0.783289670944214	0.45256	D	0.79692	0.44048	T	0.42211768	0.62233	0.30941108	0.56956	0.42211768	0.62233	0.30941108	0.56955	-1.765	0.02407	T	.	.	0.407	0.59964	A	.;.;.	.;.;.	3.510524	0.49159	22.7	0.97899140483582825	0.36731	0.98220	0.80657	D	AEFGBI	0.640959	0.61847	D	-0.0622681486623968	0.39056	2.297149	0.183205801398182	0.48926	3.102239	0.999999972724126	0.74766	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.88	5.88	0.94564	6.214000	0.72143	11.169000	0.87908	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	1.0:0.0:0.0:0.0	16.275	0.82465	725	0.54935	Myb/SANT-like DNA-binding domain;Myb/SANT-like DNA-binding domain;Myb/SANT-like DNA-binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.25	3320.06	203	chr11	106010664	.	A	G	3320.06	.	AC=3;AF=0.25;AN=12;BaseQRankSum=-2.661;DP=1255;ExcessHet=0.7463;FS=319.866;InbreedingCoeff=-0.3333;MLEAC=4;MLEAF=0.333;MQ=60;MQRankSum=0;QD=6.29;ReadPosRankSum=4.37;SOR=10.163	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:134,69:203:99:0|1:106010660_C_G:1608,0,4991:106010660	3	0	3	4
chr11	108251973	108251973	T	C	exonic	ATM	.	nonsynonymous SNV	ATM:NM_000051:exon11:c.T1744C:p.F582L,ATM:NM_001351834:exon12:c.T1744C:p.F582L	Ataxia-telangiectasia, Autosomal recessive;Lymphoma, B-cell non-Hodgkin, somatic (3);Lymphoma, mantle cell, somatic (3);T-cell prolymphocytic leukemia, somatic (3)	1	1484	37	0	0	37	0.0123128	.	.	YES	132799	Familial_cancer_of_breast|not_provided|Hereditary_cancer-predisposing_syndrome|Ataxia-telangiectasia_syndrome|not_specified|Malignant_tumor_of_breast|Breast_and/or_ovarian_cancer	MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:227535|MedGen:C3661900|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900,Orphanet:100|MedGen:CN169374|MONDO:MONDO:0007254,MedGen:C0006142|MedGen:CN221562	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.272	0.00632949868566	0.0006	0.00259585	0.0010	0.0003	0.0014	0	0	0.0010	0.0033	0.0018	0.0010673	165	154602	rs2235006	0.0008	0.0008	0.0007	0.0009	0.0229	0.0008	0.0008	0.0197	0.0185	0.0008	0.0016	0.0007	0	0	0.0229	0.0006	0.0017	0.0019	0.0008	0.0008	0.0007	0.0009	0.0018	0.0007	0.0006	0.0013	0.0011	0.0002	0	0.0018	0.0003	0	0	0.0102	0.0010	0.0038	0.0014	1.0	0.00964	T	0.221	0.25827	T	0.0	0.02946	B	0.001	0.04355	B	0.013257	0.28902	N	0.409630	0.999837	0.20152	N	0.69	0.16971	N	0.55	0.54728	T	-0.37	0.16393	N	0.079	0.21580	-1.0270	0.21429	T	0.068	0.27777	T	10	0.0050537884	0.00109	T	0.006329	0.16639	T	0.272	0.58758	0.737	0.86978	0.819883778855	0.81818	0.15030838992287476	0.14952	0.144979564381	0.16386	0.368464320898	0.20611	T	0.073865	0.34800	T	-0.352246	0.04587	T	-0.291983	0.45566	T	0.000667495086760846	0.00006	T	0.610839	0.23175	T	0.08629755	0.20053	0.10082258	0.24117	0.07361293	0.16461	0.0899903	0.21076	-2.303	0.04571	T	0.21292882189483592	0.28582	0.451	0.62236	A	.;.;.	.;.;.	0.752413	0.11221	7.853	0.55554340149940129	0.05366	0.26494	0.23009	N	AEFBI	0.038653	0.05500	N	-0.730072476973633	0.15181	0.7627831	-0.627980968104417	0.18775	1.004481	0.717382268493451	0.22891	0.706548	0.73137	0	0.724815	0.89359	0	0.65145	0.50148	0	0.635551	0.53088	0	.	.	6.03	1.13	0.19758	0.131000	0.15696	-0.914000	0.06944	-0.123000	0.13640	0.351000	0.25767	0.000000	0.08366	0.858000	0.40661	0.0:0.2561:0.0:0.7439	9.764	0.39715	126	0.94940	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	0.016616	0.000000	0.014946	0.052632	0.000000	0.017241	0.000000	0.011364	0.1	2068.14	111	chr11	108251973	.	T	C	2068.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-0.756;DP=479;ExcessHet=0.2348;FS=1.759;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=10.5;ReadPosRankSum=-0.309;SOR=0.552	GT:AD:DP:GQ:PL	0/1:68,43:111:99:1010,0,1796	8	0	2	0
chr11	117179321	117179321	C	A	exonic	SIDT2	.	nonsynonymous SNV	SIDT2:NM_001040455:exon1:c.C58A:p.L20M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.020	0.0104154787978	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.104e-06	4.104e-06	5.445e-06	2.75e-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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.098	0.35726	T	0.114	0.36765	T	0.94	0.56013	P	0.462	0.52893	P	0.451120	0.12506	N	0.682813	0.937179	0.26898	N	1.245	0.31408	L	2.19	0.46777	T	-0.49	0.21644	N	0.147	0.30687	-1.0379	0.17954	T	0.105	0.38538	T	10	0.09195241	0.16152	T	0.010415	0.26915	T	0.020	0.03691	0.166	0.07071	0.254761474806	0.25079	0.2538915359724346	0.25303	0.910931701571	0.71058	0.497206509113	0.38438	T	0.006174	0.16281	T	-0.186236	0.22811	T	-0.505291	0.21799	T	0.207010790705681	0.20796	T	0.653735	0.26383	T	0.13749091	0.31832	0.06870511	0.14384	0.13749091	0.31832	0.06870511	0.14384	-5.001	0.36851	T	.	.	0.088	0.11654	B	.;.;.;.;.;.	.;.;.;.;.;.	2.550478	0.33007	19.21	0.99178314772415266	0.54614	0.33540	0.24853	N	AEFDGBHCI	0.162030	0.28815	N	-0.321766678600299	0.28323	1.561249	-0.290649118661874	0.28405	1.583595	0.999999812753925	0.74766	0.65757	0.49021	0	0.52208	0.09955	0	0.619478	0.44681	0	0.372554	0.06265	0	.	.	4.19	2.22	0.27116	0.268000	0.18336	0.806000	0.21705	0.599000	0.40250	0.013000	0.18845	0.988000	0.31051	0.994000	0.71098	0.205:0.6847:0.0:0.1103	5.025	0.13721	583	0.69484	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1383.43	117	chr11	117179321	.	C	A	1383.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.05;DP=425;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.82;ReadPosRankSum=2.75;SOR=0.745	GT:AD:DP:GQ:PL	0/1:62,55:117:99:1395,0,1525	9	0	1	0
chr11	117289664	117289664	T	G	exonic	BACE1	.	nonsynonymous SNV	BACE1:NM_001207048:exon8:c.A1108C:p.M370L,BACE1:NM_001207049:exon8:c.A1033C:p.M345L,BACE1:NM_012104:exon9:c.A1408C:p.M470L,BACE1:NM_138971:exon9:c.A1276C:p.M426L,BACE1:NM_138972:exon9:c.A1333C:p.M445L,BACE1:NM_138973:exon9:c.A1201C:p.M401L	.	422	1095	5	0	0	5	0.0022779	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.183	0.0168633849603	0.0009	0.000399361	0.0008	9.61e-05	0.0010	0	0.0009	0.0012	0	0.0002	0.0008344	129	154602	rs143544031	0.0011	0.0011	0.0012	0.0011	0.0068	0.0011	0.0011	0.0051	0.0045	0.0005	0.0009	3.826e-05	0	0.0009	0.0068	0.0013	0.0012	0.0002	0.0009	0.0009	0.0009	0.0009	0.0014	0.0008	0.0007	0.0010	0.0009	0.0003	0	0.0014	0.0003	0	0.0015	0	0.0012	0.0019	0	0.528	0.09319	T	1.0	0.01155	T	0.053	0.22573	B	0.014	0.19346	B	0.000000	0.84330	D	0.000000	0.999999	0.81001	D	0.975	0.24501	L	0.92	0.50721	T	0.24	0.04861	N	0.62	0.70615	-1.0497	0.14481	T	0.079	0.31405	T	10	0.04303229	0.03111	T	0.016863	0.38312	T	0.183	0.45592	0.315	0.29096	0.770086399773	0.76797	0.6699049850951962	0.66928	0.665311434226	0.59132	0.752660155296	0.74839	T	0.25145	0.62170	T	-0.251465	0.13919	T	-0.147218	0.59490	T	0.0223976558958757	0.00953	T	0.905509	0.82627	D	0.46385038	0.64910	0.47531548	0.69595	0.46385038	0.64911	0.47531548	0.69596	1.62	0.00167	T	.	.	0.166	0.37633	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	3.150855	0.42657	21.6	0.95301928218251697	0.26623	0.98665	0.85319	D	AEFDBI	0.940149	0.94172	D	-0.134864233134642	0.35880	2.066669	0.108947530788301	0.45004	2.771495	0.999999910508254	0.74766	0.706548	0.73137	0	0.546412	0.12157	0	0.724815	0.87919	0	0.711	0.71501	0	.	.	5.65	5.65	0.86881	7.629000	0.82391	7.874000	0.72122	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:0.0:1.0	15.072	0.71714	692	0.58729	.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002014	0.010101	0.001359	0.002924	0.000000	0.000000	0.000000	0.000000	0.05	1260.43	113	chr11	117289664	.	T	G	1260.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.867;DP=425;ExcessHet=0;FS=0.703;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.15;ReadPosRankSum=0.338;SOR=0.813	GT:AD:DP:GQ:PL	0/1:62,51:113:99:1272,0,1470	9	0	1	0
chr11	118365139	118365139	G	C	exonic	UBE4A	.	nonsynonymous SNV	UBE4A:NM_001204077:exon2:c.G59C:p.G20A,UBE4A:NM_004788:exon2:c.G59C:p.G20A	.	436	1085	1	0	0	1	0.000460617	.	.	.	3491083	Inborn_genetic_diseases	MeSH:D030342,MedGen:C0950123	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.174	0.0045660092906	0.0002	.	8.359e-05	0	0	0	0	0.0002	0	0	9.7e-05	15	154602	rs35367525	0.0003	0.0003	0.0004	0.0003	0.0004	0.0003	0.0003	0.0004	0.0004	2.988e-05	0	0	0	0	0	0.0004	0.0005	0	0.0002	0.0002	0.0002	0.0001	0.0004	0.0001	0.0001	0.0003	0.0002	2.415e-05	0	6.546e-05	0	0	0	0	0.0004	0	0	1.0	0.00964	T	1.0	0.01155	T	0.02	0.20350	B	0.005	0.19048	B	0.000000	0.84330	D	0.084804	0.999963	0.52935	D	0.695	0.17993	N	0.99	0.42122	T	0.31	0.04022	N	0.136	0.13341	-1.0063	0.28065	T	0.087	0.33662	T	10	0.06657538	0.09150	T	0.004566	0.11252	T	0.174	0.44019	.	.	0.0675242888579	0.06100	0.1487408330699164	0.14796	0.363724479938	0.37996	0.669441580772	0.62759	T	0.037783	0.24604	T	-0.34079	0.05333	T	-0.428361	0.30121	T	0.131012619176992	0.15476	T	0.951205	0.81406	D	0.20682307	0.42869	0.29715952	0.55749	0.20682307	0.42869	0.29715952	0.55748	-4.711	0.33537	T	.	.	0.163	0.36053	B	.;.	.;.	3.252135	0.44444	21.9	0.98524064293359814	0.42508	0.98912	0.88526	D	AEFBHI	0.822302	0.74266	D	-0.0103094152928785	0.41388	2.474681	0.239821940005929	0.52072	3.384647	0.999999999990929	0.74766	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	6.17	6.17	0.99707	7.416000	0.79356	11.760000	0.95608	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:1.0:0.0	20.879	0.99870	123	0.95099	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.05	947.43	75	chr11	118365139	.	G	C	947.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.201;DP=386;ExcessHet=0;FS=0.869;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.63;ReadPosRankSum=0.748;SOR=0.843	GT:AD:DP:GQ:PL	0/1:36,39:75:99:959,0,948	9	0	1	0
chr11	133909085	133909085	T	C	exonic	IGSF9B	.	nonsynonymous SNV	IGSF9B:NM_001277285:exon20:c.A4298G:p.H1433R	.	427	1063	30	2	0	34	0.0157407	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00798722	0.0256	0	0.0053	0	0	0.0050	0.0522	0.0381	0.0027231	421	154602	rs138072592	0.0045	0.0042	0.0035	0.0055	0.0357	0.0044	0.0043	0.0346	0.0342	0.0003	0.0012	0.0053	8.396e-05	0.0005	0.0058	0.0027	0.0041	0.0357	0.0031	0.0031	0.0027	0.0035	0.0372	0.0029	0.0028	0.0327	0.0310	0.0005	0.0033	0.0018	0.0055	0.0006	0.0003	0.0102	0.0031	0.0019	0.0372	.	.	.	0.026	0.55759	D	.	.	.	.	.	.	.	.	.	.	0.980173	0.25131	N	.	.	.	.	.	.	.	.	.	0.222	0.24883	.	.	.	.	.	.	.	0.004899472	0.00105	T	.	.	.	.	.	.	.	.	.	0.6130628645244464	0.61238	0.144869896826	0.16365	0.65162050724	0.60215	T	.	.	.	-0.325306	0.06472	T	-0.213596	0.53351	T	.	.	.	0.751425	0.37327	T	.	.	.	.	.	.	.	.	-2.078	0.03490	T	.	.	0.088	0.11797	B	.	.	3.581161	0.50486	22.9	0.99044524387127286	0.51095	0.98680	0.85501	D	AEFBI	0.821007	0.74166	D	.	.	.	.	.	.	0.907019004734857	0.26247	0.706548	0.73137	0	0.547309	0.14657	0	0.724815	0.87919	0	0.613276	0.41899	0	.	.	6.07	4.93	0.64394	6.974000	0.75906	7.865000	0.71651	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.986000	0.61781	0.1341:0.0:0.0:0.8659	11.466	0.49483	940	0.13648	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1157.43	80	chr11	133909085	.	T	C	1157.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.459;DP=400;ExcessHet=0;FS=5.896;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.47;ReadPosRankSum=2.89;SOR=0.302	GT:AD:DP:GQ:PL	0/1:35,45:80:99:1169,0,992	9	0	1	0
chr12	6557110	6557110	A	T	exonic	NOP2	.	nonsynonymous SNV	NOP2:NM_001033714:exon16:c.T2310A:p.N770K,NOP2:NM_001258308:exon16:c.T2322A:p.N774K,NOP2:NM_006170:exon16:c.T2310A:p.N770K,NOP2:NM_001258309:exon17:c.T2421A:p.N807K	.	.	.	.	.	.	.	.	.	.	.	4000686	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.039	0.00523207139575	8.3e-05	.	9.127e-05	0.0002	0.0004	0	0	6.006e-05	0	0	7.12e-05	11	154602	rs372507324	0.0001	0.0001	0.0001	0.0001	0.0006	9.671e-05	9.15e-05	0.0004	0.0004	0.0004	0.0006	0	0	0	0.0002	9.713e-05	0.0002	0	0.0003	0.0003	0.0003	0.0003	0.0020	0.0002	0.0002	0.0015	0.0013	0.0003	0	0.0020	0	0	0	0	4.41e-05	0.0005	0	0.004	0.72154	D	0.194	0.28482	T	0.005	0.15093	B	0.002	0.11217	B	0.012962	0.28994	N	0.247186	0.999999	0.58761	D	2.255	0.64187	M	2.51	0.14284	T	-0.24	0.10833	N	0.129	0.25006	-1.0749	0.08369	T	0.031	0.13374	T	10	0.025722384	0.00757	T	0.005232	0.13341	T	0.039	0.10176	0.173	0.07894	0.206339911435	0.20273	0.03307327377397651	0.03255	0.104967734131	0.11866	0.398771762848	0.24898	T	0.004784	0.04195	T	-0.550784	0.00289	T	-0.670359	0.07585	T	0.0491795451837496	0.05356	T	0.723528	0.33695	T	0.059573367	0.12123	0.055600833	0.09783	0.059573367	0.12123	0.055600833	0.09782	-4.673	0.34404	T	.	.	0.083	0.22500	B	.;.;.;.;.;.	.;.;.;.;.;.	2.170547	0.27657	17.54	0.96564318006690419	0.30272	0.59602	0.30961	D	AEFDBCI	0.148974	0.27297	N	-0.348364988093005	0.27332	1.498746	-0.277036323454217	0.28857	1.612179	0.999753466358445	0.42595	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.06	2.58	0.30011	0.663000	0.24735	1.210000	0.24900	0.756000	0.94297	0.859000	0.30595	0.930000	0.28522	0.018000	0.11154	0.698:0.2022:0.0998:0.0	4.926	0.13244	649	0.63102	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.002717	0.000000	0.000000	0.000000	0.000000	0.000000	0.05	1732.43	119	chr12	6557110	.	A	T	1732.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=3.56;DP=440;ExcessHet=0;FS=2.37;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.56;ReadPosRankSum=1.59;SOR=0.977	GT:AD:DP:GQ:PL	0/1:62,57:119:99:1744,0,1725	9	0	1	0
chr12	11353720	11353720	-	TGTTGCCTCCTTGTTGGGGTGGTCCTTGTGGCTTTCCTGGAGGAGGTGGGGGACCTTGGGGCTGGTTACCTCCTTGTGGGGGTGGTCCTTGTGGCTTTCCTGGAGGAGATCGGGGACTTTGGGACTTGTCTCCTTGTGGGGGTGGTCCTTGTGGCTTTCCTGGAGGTGGGGGACCCTGAGGTT	exonic	PRB1	.	nonframeshift insertion	PRB1:NM_001367912:exon5:c.1368_1369insAACCTCAGGGTCCCCCACCTCCAGGAAAGCCACAAGGACCACCCCCACAAGGAGACAAGTCCCAAAGTCCCCGATCTCCTCCAGGAAAGCCACAAGGACCACCCCCACAAGGAGGTAACCAGCCCCAAGGTCCCCCACCTCCTCCAGGAAAGCCACAAGGACCACCCCAACAAGGAGGCAACA:p.D457delinsNLRVPHLQESHKDHPHKETSPKVPDLLQESHKDHPHKEVTSPKVPHLLQESHKDHPNKEATD	.	540	935	7	29	11	76	0.0335917	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0085	0.0088	0.0081	0.0089	0.0159	0.0083	0.0083	0.0146	0.0141	0.0033	0.0083	0.0191	0.0159	0.0281	0.0146	0.0072	0.0123	0.0121	0.0005	0.0008	0.0005	0.0005	0.0004	0.0003	0.0002	0.0001	8.372e-05	0	0	0	0.0033	0	0.0067	0	0.0004	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6667	21125.9	234	chr12	11353720	.	C	CTGTTGCCTCCTTGTTGGGGTGGTCCTTGTGGCTTTCCTGGAGGAGGTGGGGGACCTTGGGGCTGGTTACCTCCTTGTGGGGGTGGTCCTTGTGGCTTTCCTGGAGGAGATCGGGGACTTTGGGACTTGTCTCCTTGTGGGGGTGGTCCTTGTGGCTTTCCTGGAGGTGGGGGACCCTGAGGTT	21125.9	.	AC=8;AF=0.667;AN=12;BaseQRankSum=2.63;DP=2008;ExcessHet=0;FS=3.474;InbreedingCoeff=0.598;MLEAC=10;MLEAF=0.833;MQ=47.36;MQRankSum=-1.624;QD=24.8;ReadPosRankSum=-1.592;SOR=0.924	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:17,217:234:99:.:.:6408,545,0:.	2	4	0	4
chr12	31091731	31091731	C	T	exonic	DDX11	.	nonsynonymous SNV	DDX11:NM_001257144:exon10:c.C1102T:p.P368S,DDX11:NM_001257145:exon10:c.C1024T:p.P342S,DDX11:NM_004399:exon10:c.C1102T:p.P368S,DDX11:NM_030653:exon10:c.C1102T:p.P368S,DDX11:NM_152438:exon10:c.C1102T:p.P368S	Warsaw breakage syndrome, Autosomal recessive	1	1276	245	0	0	245	0.0875939	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.437	.	.	0.0223642	0.0002	0.0003	0.0002	0.0005	0.0003	0.0002	0	0	0.0008409	130	154602	rs201612562	0.0006	0.0035	0.0005	0.0007	0.0033	0.0005	0.0005	0.0028	0.0027	0.0002	0.0033	0.0005	0.0016	0.0013	0.0006	0.0004	0.0005	0.0007	0	0.0001	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.013	0.57480	D	0.0	0.92824	D	1.0	0.90584	D	0.99	0.86255	D	0.000009	0.62929	D	0.114571	1	0.81001	D	.	.	.	1.14	0.38397	T	-7.74	0.95765	D	0.935	0.94668	-0.3380	0.73902	T	0.280	0.65170	T	10	0.0195221	0.00437	T	.	.	.	0.437	0.74164	.	.	0.584736501517	0.58146	0.856246594939591	0.85587	.	.	0.844346821308	0.88757	D	0.56607	0.85555	D	0.117933	0.66163	D	-0.0683742	0.65742	T	0.971576750278473	0.69369	D	0.946205	0.79675	D	0.8229996	0.85423	0.65729964	0.79931	0.8229996	0.85424	0.65729964	0.79931	-11.524	0.82967	D	.	.	0.597	0.70296	P	.;.;.;.	.;.;.;.	5.562741	0.92150	32	0.99906950704780995	0.97726	0.96748	0.70729	D	AEFBI	0.667814	0.63581	D	0.720063401293283	0.80945	7.408779	0.572471631206645	0.72975	5.895083	0.92097638106142	0.26654	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.683762	0.67416	0	.	.	3.05	3.05	0.34272	7.167000	0.77125	3.884000	0.40256	0.497000	0.22564	1.000000	0.71638	1.000000	0.68203	0.984000	0.60418	0.0:1.0:0.0:0.0	11.616	0.50348	976	0.04745	.;.;DEAD2|Helicase superfamily 1/2, ATP-binding domain, DinG/Rad3-type|Helicase-like, DEXD box c2 type;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1	220.13	131	chr12	31091731	.	C	T	220.13	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-1.891;DP=893;ExcessHet=0.2348;FS=0;InbreedingCoeff=-0.1096;MLEAC=2;MLEAF=0.1;MQ=47.69;MQRankSum=-6.345;QD=0.69;ReadPosRankSum=-2.244;SOR=0.647	GT:AD:DP:GQ:PL	0/1:107,24:131:99:221,0,3017	8	0	2	0
chr12	39764776	39764776	G	C	exonic	SLC2A13	.	nonsynonymous SNV	SLC2A13:NM_052885:exon8:c.C1528G:p.L510V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.252	0.0443433292116	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.747e-06	0.0002	4.1e-06	1.38e-06	3.612e-06	6.4e-07	4.3e-07	8.5e-07	5.7e-07	0	0	0	0	0	0	3.612e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.286	0.15201	T	0.462	0.12526	T	0.374	0.34192	B	0.326	0.41929	B	0.000000	0.84330	D	0.000000	1	0.81001	D	.	.	.	-0.89	0.74793	T	-0.46	0.14978	N	0.564	0.58798	-0.6019	0.64739	T	0.322	0.69134	T	10	0.51726407	0.62438	D	0.044343	0.61442	D	0.252	0.56159	0.421	0.46365	0.695003275107	0.69237	0.8554796860303294	0.85510	0.415926434887	0.42235	0.617287814617	0.55346	T	0.14097	0.47579	T	0.161933	0.70380	D	-0.00517021	0.70000	D	0.952465236186981	0.63797	D	0.912409	0.68863	D	0.25600496	0.48637	0.19588253	0.43288	0.25600496	0.48637	0.19588253	0.43287	-8.267	0.62875	D	.	.	0.147	0.32493	B	.	.	3.372480	0.46612	22.3	0.9975783521054008	0.84772	0.94008	0.59836	D	AEFCI	0.740830	0.68496	D	0.145500679544335	0.48600	3.070197	0.293165215121814	0.55141	3.677321	0.998323112009773	0.36758	0.653281	0.48532	0	0.573888	0.26702	0	0.675528	0.61593	0	0.620846	0.47308	0	.	.	5.39	5.39	0.77615	4.252000	0.58574	11.595000	0.93433	0.671000	0.69459	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:0.0:1.0:0.0	19.172	0.93569	507	0.75469	Major facilitator superfamily domain|Major facilitator superfamily domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.35	1393.03	83	chr12	39764776	.	G	C	1393.03	.	AC=7;AF=0.35;AN=20;BaseQRankSum=-0.279;DP=513;ExcessHet=10.3881;FS=336.368;InbreedingCoeff=-0.6794;MLEAC=7;MLEAF=0.35;MQ=60;MQRankSum=0;QD=3.51;ReadPosRankSum=1.11;SOR=10.236	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:40,41:83:99:.:.:370,0,513:.	3	0	7	0
chr12	40482890	40482890	T	0	exonic	MUC19	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	7725.97	1277	chr12	40482890	.	T	*	7725.97	.	AC=3;AF=0.25;AN=12;BaseQRankSum=-1.523;DP=11121;ExcessHet=4.5998;FS=0;InbreedingCoeff=-0.6667;MLEAC=4;MLEAF=0.333;MQ=58.41;MQRankSum=-21.94;QD=1.15;ReadPosRankSum=2.7;SOR=0.726	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:400,739:1277:99:0|1:40482890_T_*:17968,0,14068:40482890	3	0	3	4
chr12	40486500	40486500	C	0	exonic	MUC19	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	1720.25	923	chr12	40486500	.	C	*	1720.25	.	AC=5;AF=0.25;AN=20;BaseQRankSum=0.871;DP=10569;ExcessHet=4.5998;FS=15.379;InbreedingCoeff=-0.4286;MLEAC=5;MLEAF=0.25;MQ=56.54;MQRankSum=4.74;QD=0.31;ReadPosRankSum=-4.885;SOR=1.217	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:683,240:923:99:0|1:40486484_ACAACTGGACCATCAGCTGAAGAGACAGGGG_A:8111,0,27857:40486484	5	0	5	0
chr12	40486506	40486506	A	0	exonic	MUC19	.	.	.	.	600	654	129	2	137	270	0.092297	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4167	1680.87	923	chr12	40486506	.	A	*	1680.87	.	AC=5;AF=0.417;AN=12;BaseQRankSum=1.05;DP=10709;ExcessHet=4.5998;FS=15.598;InbreedingCoeff=-0.6667;MLEAC=6;MLEAF=0.5;MQ=56.69;MQRankSum=4.55;QD=0.3;ReadPosRankSum=-7.683;SOR=1.22	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:683,240:923:99:0|1:40486484_ACAACTGGACCATCAGCTGAAGAGACAGGGG_A:8111,0,27857:40486484	1	0	5	4
chr12	40486507	40486507	G	0	exonic	MUC19	.	.	.	.	596	657	130	2	137	271	0.0925414	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4167	1677.87	923	chr12	40486507	.	G	*	1677.87	.	AC=5;AF=0.417;AN=12;BaseQRankSum=-0.013;DP=10710;ExcessHet=4.5998;FS=15.598;InbreedingCoeff=-0.6667;MLEAC=6;MLEAF=0.5;MQ=56.7;MQRankSum=4.54;QD=0.3;ReadPosRankSum=-8.034;SOR=1.221	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:683,240:923:99:0|1:40486484_ACAACTGGACCATCAGCTGAAGAGACAGGGG_A:8111,0,27857:40486484	1	0	5	4
chr12	40486514	40486514	G	0	exonic	MUC19	.	.	.	.	645	616	122	2	137	263	0.0927835	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4167	1626.87	923	chr12	40486514	.	G	*	1626.87	.	AC=5;AF=0.417;AN=12;BaseQRankSum=1.88;DP=10703;ExcessHet=4.5998;FS=15.453;InbreedingCoeff=-0.6667;MLEAC=6;MLEAF=0.5;MQ=57.06;MQRankSum=4.22;QD=0.29;ReadPosRankSum=-9.992;SOR=1.225	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:683,240:923:99:0|1:40486484_ACAACTGGACCATCAGCTGAAGAGACAGGGG_A:8111,0,27857:40486484	1	0	5	4
chr12	42393679	42393679	C	G	exonic	PPHLN1	.	nonsynonymous SNV	PPHLN1:NM_001364826:exon5:c.C398G:p.S133C,PPHLN1:NM_001143789:exon6:c.C536G:p.S179C,PPHLN1:NM_001364825:exon6:c.C536G:p.S179C,PPHLN1:NM_001364829:exon6:c.C536G:p.S179C,PPHLN1:NM_001364830:exon6:c.C536G:p.S179C,PPHLN1:NM_001143787:exon7:c.C593G:p.S198C,PPHLN1:NM_001143788:exon7:c.C701G:p.S234C,PPHLN1:NM_001364824:exon7:c.C593G:p.S198C,PPHLN1:NM_001364827:exon7:c.C701G:p.S234C,PPHLN1:NM_001364828:exon7:c.C701G:p.S234C,PPHLN1:NM_001364831:exon7:c.C557G:p.S186C,PPHLN1:NM_001364832:exon7:c.C557G:p.S186C,PPHLN1:NM_001364822:exon8:c.C722G:p.S241C,PPHLN1:NM_001364823:exon8:c.C614G:p.S205C,PPHLN1:NM_001364833:exon8:c.C758G:p.S253C,PPHLN1:NM_001364834:exon8:c.C722G:p.S241C,PPHLN1:NM_016488:exon8:c.C758G:p.S253C,PPHLN1:NM_201438:exon8:c.C614G:p.S205C,PPHLN1:NM_201439:exon8:c.C758G:p.S253C,PPHLN1:NM_201440:exon8:c.C614G:p.S205C,PPHLN1:NM_201515:exon9:c.C779G:p.S260C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.129	0.00385000562614	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1283118335	2.749e-06	3.42e-06	2.736e-06	2.763e-06	3.604e-06	6.4e-07	4.3e-07	8.4e-07	5.7e-07	0	0	0	0	0	0	3.604e-06	0	0	6.575e-06	6.567e-06	1.285e-05	0	1.471e-05	0	0	.	.	0	0	0	0	0	0	0	1.471e-05	0	0	0.034	0.78490	D	0.012	0.72224	D	0.992	0.90584	D	0.849	0.71741	P	0.046487	0.23434	N	0.393555	0.997349	0.25674	N	2.36	0.67893	M	.	.	.	-2.39	0.57920	N	0.275	0.37093	-0.7483	0.58024	T	0.253	0.62281	T	9	0.18307292	0.33618	T	0.00385	0.09024	T	0.129	0.35316	0.176	0.08257	0.785105186859	0.78311	0.15146685065503165	0.15068	0.772966515379	0.64872	0.454114794731	0.32507	T	0.085883	0.74842	T	0.0433968	0.57489	T	-0.17544	0.56944	T	0.962021470069885	0.66248	D	0.962204	0.85735	D	0.15832826	0.35627	0.1458287	0.34571	0.15832826	0.35626	0.1458287	0.34570	-5.826	0.45952	T	.	.	0.122	0.39237	B	.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.	5.889420	0.93958	33	0.99127158070364407	0.53142	0.84508	0.43590	D	AEFGBI	0.539939	0.55671	D	0.54333500513242	0.69678	5.391107	0.547463863519493	0.71221	5.621823	0.188643121208731	0.17971	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	6.06	5.17	0.70848	2.876000	0.48197	5.487000	0.48737	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.1489:0.8511:0.0:0.0	14.242	0.65513	578	0.69858	.;.;.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1017.43	76	chr12	42393679	.	C	G	1017.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.699;DP=394;ExcessHet=0;FS=1.931;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.39;ReadPosRankSum=-1.476;SOR=1.051	GT:AD:DP:GQ:PL	0/1:38,38:76:99:1029,0,967	9	0	1	0
chr12	52305303	52305303	C	T	exonic	KRT86	.	nonsynonymous SNV	KRT86:NM_001320198:exon7:c.C799T:p.R267W	Monilethrix, Autosomal dominant	1	1518	3	0	0	3	0.000987167	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.640	0.0400846732099	.	0.00179712	0.0010	0.0002	8.637e-05	0.0001	0	0	0	0.0074	0.0008991	139	154602	rs527924718	0.0005	0.0005	0.0003	0.0008	0.0083	0.0005	0.0005	0.0078	0.0076	0.0001	2.236e-05	0	0	0	0.0005	3.147e-05	0.0006	0.0083	0.0003	0.0003	0.0001	0.0004	0.0077	0.0002	0.0002	0.0057	0.0050	7.217e-05	0	6.536e-05	0	0	0	0	0	0	0.0077	0.026	0.46910	D	0.017	0.60337	D	0.752	0.43309	P	0.458	0.46341	P	0.002121	0.37183	U	0.000000	0.950099	0.37680	D	3.155	0.88459	M	-1.03	0.76430	T	-6.67	0.92346	D	0.855	0.85132	0.392	0.88976	D	0.580	0.84894	D	10	0.031207532	0.01253	T	0.040085	0.59179	D	0.640	0.86283	.	.	0.787429220385	0.78545	0.06255905535991658	0.06195	0.726824204541	0.62532	0.530881166458	0.43159	T	0.702289	0.91438	D	-0.0834117	0.39159	T	0.112395	0.77732	D	0.209865479603385	0.20946	T	0.918008	0.70480	D	0.43475062	0.63063	0.35416064	0.60965	0.41289797	0.61616	0.36675254	0.61998	-8.106	0.61791	D	0.5622268601804593	0.62991	0.346	0.56285	A	.;.	.;.	4.399689	0.67970	25.2	0.99891060901089068	0.96513	0.84878	0.43971	D	AEFDGBHCI	0.760494	0.69850	D	0.206191914521629	0.51499	3.330622	0.0844439248188568	0.43765	2.671622	0.999997778796696	0.74766	0.608966	0.35542	0	0.681609	0.65952	0	0.600433	0.31921	0	0.63947	0.58350	0	.	.	4.51	-0.555	0.11216	0.261000	0.18211	.	.	0.501000	0.22741	0.983000	0.35670	0.000000	0.08366	0.997000	0.79791	0.5339:0.4661:0.0:0.0	14.233	0.65448	706	0.57215	Intermediate filament, rod domain|Intermediate filament, rod domain|Intermediate filament, rod domain;Intermediate filament, rod domain|Intermediate filament, rod domain|Intermediate filament, rod domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000529	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.05	4313.43	339	chr12	52305303	.	C	T	4313.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=3.96;DP=1255;ExcessHet=0;FS=10.043;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=59.41;MQRankSum=2.12;QD=12.72;ReadPosRankSum=0.12;SOR=1.134	GT:AD:DP:GQ:PL	0/1:184,155:339:99:4325,0,4635	9	0	1	0
chr12	52319252	52319252	G	C	exonic	KRT83	.	nonsynonymous SNV	KRT83:NM_002282:exon2:c.C497G:p.T166S	.	0	1513	9	0	0	9	0.0029654	.	.	.	333422	Monilethrix	Human_Phenotype_Ontology:HP:0032470,MONDO:MONDO:0008009,MedGen:C0546966,OMIM:PS158000,Orphanet:573	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.206	.	.	0.00379393	0.0016	0	0	0.0001	0	5.993e-05	0.0011	0.0117	0.0014489	224	154602	rs200690744	0.0008	0.0008	0.0004	0.0012	0.0128	0.0008	0.0008	0.0122	0.0120	2.988e-05	0	3.826e-05	0	0	0.0007	7.195e-06	0.0009	0.0128	0.0005	0.0005	0.0002	0.0008	0.0151	0.0004	0.0004	0.0123	0.0113	0	0	0	0	0	0	0	0	0	0.0151	0.113	0.28772	T	0.225	0.25514	T	0.29	0.32311	B	0.262	0.39564	B	0.000501	0.43931	U	0.000000	0.97728	0.25322	N	0.87	0.21467	L	-0.89	0.74793	T	-1.33	0.33197	N	0.193	0.21188	-0.6388	0.63197	T	0.312	0.68264	T	10	0.008940846	0.00202	T	.	.	.	0.206	0.49396	0.353	0.35246	0.691086290029	0.68843	0.05887976545614775	0.05828	0.102892121615	0.11642	0.61100268364	0.54457	T	0.124945	0.45031	T	-0.42697	0.01546	T	-0.375701	0.36225	T	0.0296262172753036	0.01932	T	0.113489	0.00864	T	0.18491252	0.39829	0.23303807	0.48481	0.18491252	0.39829	0.23303807	0.48480	-5.548	0.42315	T	0.12895795728825618	0.13416	0.140	0.30660	B	.	.	2.917450	0.38715	20.8	0.99160167864225657	0.54071	0.73602	0.36002	D	AEFDGBHCI	0.360399	0.45038	N	0.138738076057933	0.48278	3.042211	0.252689036212891	0.52803	3.452651	0.999999438815842	0.74766	0.59774	0.34471	0	0.615948	0.52940	0	0.578056	0.29568	0	0.63947	0.58350	0	.	.	4.81	4.81	0.61401	2.275000	0.43058	.	.	0.676000	0.76740	0.994000	0.38300	0.000000	0.08366	0.835000	0.39381	0.0:0.0:0.6971:0.3029	11.671	0.50661	724	0.55085	Intermediate filament, rod domain|Intermediate filament, rod domain|Intermediate filament, rod domain	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.001068	0.000000	0.000000	0.000000	0.000000	0.000000	0.003165	0.003817	0.05	1599.43	144	chr12	52319252	.	G	C	1599.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.033;DP=653;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.11;ReadPosRankSum=0.833;SOR=0.654	GT:AD:DP:GQ:PL	0/1:77,67:144:99:1611,0,2117	9	0	1	0
chr12	53286190	53286190	G	A	exonic	ESPL1	.	nonsynonymous SNV	ESPL1:NM_012291:exon18:c.G3454A:p.A1152T	.	425	1096	1	0	0	1	0.000455996	.	.	.	3442207	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.104	0.00368686540011	0.0004	.	0.0001	0.0012	8.639e-05	0	0	1.499e-05	0	6.056e-05	0.0001035	16	154602	rs143545932	2.599e-05	2.599e-05	2.995e-05	2.2e-05	0.0005	1.932e-05	1.692e-05	0.0003	0.0003	0.0005	4.472e-05	0	0	0	0	1.079e-05	1.656e-05	6.956e-05	0.0003	0.0003	0.0004	0.0002	0.0011	0.0002	0.0002	0.0008	0.0007	0.0011	0	0	0	0	0	0	0	0.0010	0	0.394	0.10694	T	0.233	0.24913	T	0.106	0.26037	B	0.011	0.15521	B	0.000019	0.62929	D	0.156649	0.528864	0.31507	N	1.9	0.50570	L	2.85	0.10578	T	-0.53	0.16393	N	0.204	0.22614	-1.0923	0.05159	T	0.024	0.10194	T	10	0.026243567	0.00796	T	0.003687	0.08527	T	0.104	0.29647	.	.	0.347532887357	0.34364	0.3043697034707937	0.30349	0.2339395931	0.25932	0.347312778234	0.17526	T	0.041248	0.25794	T	-0.538132	0.00344	T	-0.581144	0.14443	T	0.0116866935263651	0.00179	T	0.675332	0.28377	T	0.0419479	0.06271	0.06509614	0.13143	0.0419479	0.06271	0.06509614	0.13143	-2.945	0.09600	T	.	.	0.077	0.06433	B	.;.	.;.	2.538451	0.32831	19.16	0.9915677097106762	0.53987	0.73989	0.36190	D	AEFDGBI	0.108228	0.21537	N	-0.033331045331321	0.40349	2.394741	0.133579794036682	0.46276	2.876351	0.999983237896695	0.51787	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	5.65	4.69	0.58546	1.370000	0.33843	5.011000	0.46670	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.932000	0.46971	0.1027:0.0:0.8973:0.0	8.617	0.33002	706	0.57215	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	3334.43	219	chr12	53286190	.	G	A	3334.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.062;DP=538;ExcessHet=0;FS=1.653;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=15.23;ReadPosRankSum=0.56;SOR=0.584	GT:AD:DP:GQ:PL	0/1:93,126:219:99:3346,0,2212	9	0	1	0
chr12	55681815	55681815	C	T	exonic	METTL7B	.	nonsynonymous SNV	METTL7B:NM_152637:exon1:c.C61T:p.L21F	.	431	1064	25	2	0	29	0.0134446	.	.	.	702406	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.062	.	0.0042	0.000998403	0.0073	0.0010	0.0042	0	0.0012	0.0136	0.0150	0.0034	0.0027037	418	154602	rs199581976	0.0036	0.0036	0.0035	0.0037	0.0193	0.0035	0.0035	0.0164	0.0153	0.0011	0.0027	0.0266	0	0.0007	0.0193	0.0033	0.0054	0.0027	0.0034	0.0034	0.0036	0.0032	0.0041	0.0032	0.0031	0.0037	0.0036	0.0008	0.0088	0.0031	0.0282	0	0.0006	0.0204	0.0041	0.0109	0.0029	0.005	0.63226	D	0.025	0.60337	D	0.008	0.14655	B	0.012	0.16012	B	0.033067	0.24945	U	0.331836	0.99201	0.41532	D	2.94	0.84723	M	1.8	0.25344	T	-2.9	0.60827	D	0.4	0.44090	-1.0594	0.11905	T	0.046	0.19680	T	10	0.0033551455	0.00058	T	.	.	.	0.062	0.17934	.	.	0.0675242888579	0.06100	0.8861837634931694	0.88587	0.0410168488921	0.04401	0.481642216444	0.36283	T	0.035111	0.24699	T	-0.575825	0.00204	T	-0.598818	0.12910	T	0.0420220997220355	0.04059	T	0.50025	0.15636	T	0.24753305	0.47732	0.29166937	0.55192	0.24753305	0.47732	0.29166937	0.55191	-5.103	0.37939	T	.	.	0.104	0.24733	B	.;.	.;.	2.197060	0.28021	17.66	0.99204784752352737	0.55381	0.48273	0.28170	N	ALL	0.875120	0.79836	D	-0.54545360957274	0.20627	1.08873	-0.562489992760993	0.20475	1.103277	0.999999999986705	0.74766	0.59774	0.34471	0	0.552344	0.17405	0	0.519653	0.09787	0	0.63947	0.58350	0	.	.	4.75	2.93	0.33092	-0.894000	0.04230	.	.	0.549000	0.26987	0.000000	0.06391	0.759000	0.26609	0.674000	0.33367	0.1728:0.5688:0.1673:0.0911	3.582	0.07507	725	0.54935	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.019467	0.025253	0.017956	0.017857	0.000000	0.054545	0.015528	0.007692	0.05	1453.43	101	chr12	55681815	.	C	T	1453.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.91;DP=411;ExcessHet=0;FS=1.722;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.39;ReadPosRankSum=-2.308;SOR=0.527	GT:AD:DP:GQ:PL	0/1:49,52:101:99:1465,0,1269	9	0	1	0
chr12	55693209	55693209	C	T	exonic	ITGA7	.	nonsynonymous SNV	ITGA7:NM_001367994:exon19:c.G1300A:p.E434K,ITGA7:NM_001144996:exon20:c.G2656A:p.E886K,ITGA7:NM_001144997:exon20:c.G2365A:p.E789K,ITGA7:NM_001374465:exon20:c.G2626A:p.E876K,ITGA7:NM_002206:exon20:c.G2644A:p.E882K,ITGA7:NM_001367993:exon21:c.G2317A:p.E773K	Muscular dystrophy, congenital, due to ITGA7 deficiency, Autosomal recessive	1	1484	35	2	0	39	0.0129697	.	.	.	99943	not_provided|ITGA7-related_disorder|Congenital_muscular_dystrophy_due_to_integrin_alpha-7_deficiency|not_specified	MedGen:C3661900|.|MONDO:MONDO:0013177,MedGen:C2750786,OMIM:613204,Orphanet:34520|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.165	.	0.0028	0.00119808	0.0040	0.0009	0.0021	0.0001	0.0009	0.0060	0.0132	0.0019	0.0038357	593	154602	rs144983062	0.0036	0.0036	0.0035	0.0037	0.0199	0.0035	0.0035	0.0170	0.0159	0.0011	0.0026	0.0282	2.519e-05	0.0007	0.0199	0.0033	0.0056	0.0027	0.0034	0.0035	0.0036	0.0032	0.0041	0.0032	0.0031	0.0036	0.0035	0.0008	0.0088	0.0041	0.0308	0	0.0005	0.0136	0.0040	0.0099	0.0023	0.099	0.30800	T	0.537	0.15746	T	0.307	0.32716	B	0.316	0.42592	B	0.030206	0.25342	N	0.401896	0.886497	0.35859	D	1.84	0.48285	L	0.78	0.49358	T	-1.8	0.42957	N	0.682	0.71942	-0.8686	0.50635	T	0.149	0.47610	T	10	0.00966835	0.00218	T	.	.	.	0.165	0.42395	.	.	0.446410834509	0.44261	0.3873274616763816	0.38647	0.553777361804	0.52138	0.650003910065	0.59987	T	0.014438	0.43425	T	-0.294246	0.09214	T	-0.194624	0.55155	T	0.023265311468717	0.01055	T	0.89671	0.63922	D	0.121053405	0.28473	0.12380122	0.29848	0.120533876	0.28361	0.1123319	0.27102	-7.277	0.57165	T	.	.	0.136	0.29697	B	.;.;.;.;.	.;.;.;.;.	3.828538	0.55324	23.6	0.99877453271086847	0.95410	0.59895	0.31042	D	AEFGBI	0.244218	0.36536	N	0.0116875107614855	0.42385	2.552875	0.10039628931083	0.44569	2.736162	0.969611658293391	0.29142	0.732398	0.92422	0	0.670034	0.63936	0	0.743671	0.96076	0	0.542086	0.14980	0	.	.	4.83	4.83	0.61880	2.603000	0.45930	.	.	0.545000	0.25583	0.993000	0.37899	1.000000	0.68203	0.916000	0.45140	0.0:0.8212:0.1788:0.0	11.718	0.50929	735	0.53711	.;.;Integrin alpha-2;.;Integrin alpha-2	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.014602	0.020202	0.014946	0.011696	0.000000	0.043103	0.009146	0.003788	0.05	1031.43	87	chr12	55693209	.	C	T	1031.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.07;DP=409;ExcessHet=0;FS=1.751;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.86;ReadPosRankSum=0.123;SOR=0.954	GT:AD:DP:GQ:PL	0/1:46,41:87:99:1043,0,1132	9	0	1	0
chr12	57280421	57280421	-	TGC	exonic	R3HDM2	.	nonframeshift insertion	R3HDM2:NM_001351213:exon12:c.1184_1185insGCA:p.Q395_L396insQ,R3HDM2:NM_001351214:exon12:c.1184_1185insGCA:p.Q395_L396insQ,R3HDM2:NM_001351215:exon12:c.1184_1185insGCA:p.Q395_L396insQ,R3HDM2:NM_001351217:exon12:c.1184_1185insGCA:p.Q395_L396insQ,R3HDM2:NM_001330122:exon13:c.1238_1239insGCA:p.Q413_L414insQ,R3HDM2:NM_001351208:exon13:c.1280_1281insGCA:p.Q427_L428insQ,R3HDM2:NM_001351212:exon13:c.1184_1185insGCA:p.Q395_L396insQ,R3HDM2:NM_001351216:exon13:c.1274_1275insGCA:p.Q425_L426insQ,R3HDM2:NM_001351218:exon13:c.1184_1185insGCA:p.Q395_L396insQ,R3HDM2:NM_001330121:exon14:c.1238_1239insGCA:p.Q413_L414insQ,R3HDM2:NM_001330123:exon14:c.1208_1209insGCA:p.Q403_L404insQ,R3HDM2:NM_001351205:exon14:c.1334_1335insGCA:p.Q445_L446insQ,R3HDM2:NM_001351206:exon14:c.1334_1335insGCA:p.Q445_L446insQ,R3HDM2:NM_001351209:exon14:c.1334_1335insGCA:p.Q445_L446insQ,R3HDM2:NM_014925:exon14:c.1238_1239insGCA:p.Q413_L414insQ,R3HDM2:NM_001351204:exon15:c.1334_1335insGCA:p.Q445_L446insQ,R3HDM2:NM_001351211:exon15:c.1304_1305insGCA:p.Q435_L436insQ,R3HDM2:NM_001351207:exon16:c.1304_1305insGCA:p.Q435_L436insQ	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.313e-05	0.0002	0	0.0001	0	9.043e-05	0	6.257e-05	3.84e-05	1	26028	rs773892495	5.272e-05	5.541e-05	4.223e-05	6.331e-05	0.0002	4.281e-05	3.956e-05	8.011e-05	6.246e-05	8.968e-05	8.955e-05	0	0	0	0.0002	5.04e-05	1.657e-05	0.0001	8.551e-05	9.191e-05	5.148e-05	0.0001	0.0002	4.962e-05	3.966e-05	0.0001	9.925e-05	0.0002	0	0	0	0	0	0	4.417e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	1152.39	60	chr12	57280421	.	T	TTGC	1152.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.17;DP=388;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=19.21;ReadPosRankSum=0.799;SOR=0.705	GT:AD:DP:GQ:PL	0/1:31,29:60:99:1164,0,1189	9	0	1	0
chr12	57516883	57516883	C	T	exonic	DDIT3	.	nonsynonymous SNV	DDIT3:NM_001195056:exon3:c.G505A:p.E169K,DDIT3:NM_001195053:exon4:c.G505A:p.E169K,DDIT3:NM_001195054:exon4:c.G505A:p.E169K,DDIT3:NM_001195055:exon4:c.G505A:p.E169K,DDIT3:NM_001195057:exon4:c.G436A:p.E146K,DDIT3:NM_004083:exon4:c.G436A:p.E146K	Myxoid liposarcoma	10	1511	1	0	0	1	0.000330797	.	.	.	693258	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.278	0.0252380426159	0.0017	0.000998403	0.0015	0.0007	0.0015	0	0.0023	0.0021	0.0011	6.056e-05	0.0016106	249	154602	rs112917609	0.0025	0.0025	0.0027	0.0023	0.0030	0.0024	0.0024	0.0029	0.0028	0.0005	0.0023	7.652e-05	2.519e-05	0.0022	0.0009	0.0030	0.0018	3.478e-05	0.0020	0.0020	0.0022	0.0017	0.0043	0.0018	0.0017	0.0035	0.0032	0.0008	0	0.0043	0	0	0.0006	0	0.0029	0.0019	0	0.0	0.91255	D	0.021	0.59159	D	0.966	0.56202	D	0.567	0.49782	P	0.000095	0.51296	D	0.166578	1	0.81001	D	1.555	0.39373	L	0.92	0.44461	T	-2.89	0.60665	D	0.472	0.56576	-0.8604	0.51234	T	0.166	0.50421	T	10	0.010696679	0.00237	T	0.025238	0.48216	D	0.278	0.59497	.	.	0.644425458896	0.64147	0.19965314620076577	0.19882	0.215396362697	0.24069	0.669970273972	0.62834	T	0.67017	0.90201	D	-0.161526	0.26526	T	-0.00878859	0.69762	D	0.0393735827210285	0.03577	T	0.928507	0.73679	D	0.7284713	0.79637	0.6815772	0.81287	0.7284713	0.79639	0.6815772	0.81288	-5.343	0.40366	T	.	.	0.142	0.41249	B	.;.;.;.;.	.;.;.;.;.	5.041667	0.83916	28.2	0.99931315727587522	0.99387	0.97059	0.72451	D	AEFDGBHCI	0.589170	0.58615	D	0.53473082416987	0.69157	5.317479	0.598777981231101	0.74851	6.20809	1.0	0.98316	0.722319	0.85440	0	0.697927	0.68747	0	0.702456	0.68683	0	0.735409	0.98432	0	.	.	5.75	5.75	0.90390	3.464000	0.52821	7.637000	0.63009	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:1.0:0.0:0.0	19.102	0.93259	406	0.82375	Basic-leucine zipper domain|Basic-leucine zipper domain|Basic-leucine zipper domain;Basic-leucine zipper domain|Basic-leucine zipper domain|Basic-leucine zipper domain;.;Basic-leucine zipper domain|Basic-leucine zipper domain|Basic-leucine zipper domain;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.002014	0.010101	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.05	1823.43	131	chr12	57516883	.	C	T	1823.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.286;DP=446;ExcessHet=0;FS=9.546;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.92;ReadPosRankSum=-2.423;SOR=0.265	GT:AD:DP:GQ:PL	0/1:64,67:131:99:1835,0,1751	9	0	1	0
chr12	62349258	62349258	A	G	exonic	USP15	.	nonsynonymous SNV	USP15:NM_001252078:exon7:c.A721G:p.I241V,USP15:NM_001351159:exon8:c.A358G:p.I120V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.096	0.0173543624238	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	4.789e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.51	0.07497	T	0.563	0.09022	T	0.281	0.32101	B	0.054	0.25828	B	0.000046	0.53742	D	0.122576	0.99157	0.81001	D	1.39	0.34934	L	2.23	0.18083	T	-0.15	0.09297	N	0.384	0.42541	-1.0551	0.13013	T	0.028	0.12190	T	8	0.18719232	0.34219	T	0.017354	0.39013	T	0.096	0.27654	0.135	0.03920	0.413450081142	0.40960	0.24231640312257655	0.24145	0.893334339126	0.70316	0.789092421532	0.80305	T	0.053841	0.29557	T	-0.108832	0.34962	T	-0.394106	0.34072	T	0.971616208553314	0.69384	D	0.817118	0.47377	T	0.041896038	0.06254	0.040611	0.04429	0.041896038	0.06254	0.040611	0.04429	-3.139	0.11750	T	.	.	0.086	0.10642	B	.	.	3.403709	0.47185	22.4	0.92967287166431267	0.22545	0.97917	0.78108	D	AEFGBI	0.898431	0.84172	D	0.0828906445442274	0.45665	2.819298	0.213602569760006	0.50601	3.250485	0.934184209829921	0.27160	0.732398	0.92422	0	0.743671	0.97443	0	0.653264	0.51672	0	0.613276	0.41899	0	.	.	5.41	4.25	0.49658	8.718000	0.91150	11.182000	0.88348	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.8678:0.0:0.0:0.1322	11.736	0.51034	884	0.28482	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	52.45	36	chr12	62349258	.	A	G	52.45	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.236;DP=258;ExcessHet=0;FS=15.413;InbreedingCoeff=-0.0544;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=1.46;ReadPosRankSum=-0.06;SOR=4.047	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:29,7:36:64:0|1:62349258_A_G:64,0,1022:62349258	9	0	1	0
chr12	62349260	62349260	C	G	exonic	USP15	.	nonsynonymous SNV	USP15:NM_001252078:exon7:c.C723G:p.I241M,USP15:NM_001351159:exon8:c.C360G:p.I120M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.166	0.032360609056	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.351e-05	0.0002	7.041e-05	3.616e-05	0.0001	4.338e-05	3.986e-05	4.489e-05	4.039e-05	0.0001	0	8.184e-05	2.923e-05	0	0	5.68e-05	7.136e-05	1.372e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.22	0.18956	T	0.097	0.39190	T	0.979	0.59044	D	0.659	0.52771	P	0.000046	0.53742	D	0.122576	0.991075	0.81001	D	1.39	0.34934	L	2.16	0.19166	T	-0.44	0.14588	N	0.605	0.62273	-1.1313	0.01721	T	0.063	0.26136	T	8	0.42980826	0.57416	T	0.032361	0.54205	D	0.166	0.42578	0.163	0.06730	0.473932634616	0.47021	0.3441554614283928	0.34329	1.46540379897	0.86441	0.817077875137	0.84579	D	0.051755	0.28969	T	-0.0179581	0.49145	T	-0.263572	0.48467	T	0.795558631420135	0.46055	D	0.657934	0.26722	T	0.06891861	0.15055	0.059590667	0.11210	0.06891861	0.15055	0.059590667	0.11209	-3.923	0.22647	T	.	.	0.109	0.20896	B	.	.	3.902481	0.56852	23.8	0.99292794450640687	0.58326	0.94663	0.61905	D	AEFGBI	0.528732	0.55014	D	0.308795654696017	0.56598	3.824832	0.30948990946223	0.56098	3.772625	0.266488731153909	0.18846	0.732398	0.92422	0	0.743671	0.97443	0	0.653264	0.51672	0	0.613276	0.41899	0	.	.	5.41	3.54	0.39650	2.881000	0.48236	3.965000	0.40779	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.1446:0.7089:0.0:0.1465	6.673	0.22269	884	0.28482	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	52.7	36	chr12	62349260	.	C	G	52.7	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.923;DP=213;ExcessHet=0;FS=15.413;InbreedingCoeff=-0.0708;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=1.46;ReadPosRankSum=-0.04;SOR=4.047	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:29,7:36:64:0|1:62349258_A_G:64,0,1022:62349258	9	0	1	0
chr12	62349262	62349262	C	G	exonic	USP15	.	nonsynonymous SNV	USP15:NM_001252078:exon7:c.C725G:p.S242C,USP15:NM_001351159:exon8:c.C362G:p.S121C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.201	0.0778893444758	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.005	0.63226	D	0.021	0.58089	D	0.011	0.15914	B	0.007	0.12992	B	0.009529	0.30318	N	0.318787	0.999981	0.81001	D	2.015	0.55033	M	1.93	0.22881	T	-1.55	0.37566	N	0.645	0.65673	-1.0911	0.05351	T	0.051	0.21611	T	8	0.4293452	0.57387	T	0.077889	0.72877	D	0.201	0.48592	0.224	0.14813	0.607365866859	0.60421	0.5894015419647625	0.58870	2.15529414545	0.95345	0.824171900749	0.85668	D	0.103148	0.41153	T	0.129019	0.67266	D	-0.0524501	0.66855	D	0.864173650741577	0.51436	D	0.815918	0.47089	T	0.15247115	0.34610	0.105967395	0.25483	0.15247115	0.34610	0.105967395	0.25483	-6.099	0.47100	T	.	.	0.126	0.26700	B	.	.	3.660991	0.52006	23.2	0.99267260621117914	0.57423	0.98499	0.83426	D	AEFGBI	0.792799	0.72099	D	0.131490864898105	0.47937	3.012489	0.312350973903366	0.56264	3.78957	0.999999978749106	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.653264	0.51672	0	0.613276	0.41899	0	.	.	5.41	5.41	0.78313	5.633000	0.67500	5.958000	0.51771	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:1.0:0.0:0.0	19.208	0.93730	884	0.28482	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.0625	53.9	36	chr12	62349262	.	C	G	53.9	.	AC=1;AF=0.063;AN=16;BaseQRankSum=0;DP=222;ExcessHet=0;FS=15.413;InbreedingCoeff=-0.1217;MLEAC=1;MLEAF=0.063;MQ=60;MQRankSum=0;QD=1.5;ReadPosRankSum=0.08;SOR=4.047	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:29,7:36:64:0|1:62349258_A_G:64,0,1022:62349258	7	0	1	2
chr12	80333059	80333059	C	T	exonic	OTOGL	.	nonsynonymous SNV	OTOGL:NM_001378609:exon38:c.C4376T:p.T1459I,OTOGL:NM_173591:exon38:c.C4376T:p.T1459I,OTOGL:NM_001378610:exon41:c.C4376T:p.T1459I,OTOGL:NM_001368062:exon42:c.C4241T:p.T1414I	Deafness, autosomal recessive 84B, Autosomal recessive	9	1512	1	0	0	1	0.000330579	.	.	.	3374410	Inborn_genetic_diseases	MeSH:D030342,MedGen:C0950123	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.164	0.00507259238064	.	0.000399361	0.0002	0	0.0006	0	0	3.301e-05	0	0.0006	8.41e-05	13	154602	rs557387942	8.422e-05	8.824e-05	6.445e-05	0.0001	0.0005	7.201e-05	6.745e-05	0.0004	0.0003	0	6.921e-05	0	0	0	0.0003	6.519e-05	8.345e-05	0.0005	7.223e-05	7.217e-05	7.709e-05	6.715e-05	0.0006	3.968e-05	3.125e-05	0.0002	8.996e-05	7.217e-05	0	6.543e-05	0	0	0	0	5.88e-05	0	0.0006	0.085	0.32769	T	0.002	0.79402	D	.	.	.	.	.	.	.	.	.	.	0.999997	0.18878	N	.	.	.	2.34	0.16351	T	-1.97	0.45587	N	0.664	0.67304	-1.0479	0.14988	T	0.041	0.17530	T	7	0.06475231	0.08635	T	0.005073	0.12846	T	0.164	0.42212	0.561	0.68093	0.136095386433	0.13204	0.5322375372344672	0.53148	0.0268335966883	0.02741	0.582905709743	0.50495	T	.	.	.	-0.246867	0.14485	T	-0.2327	0.51509	T	0.113664755059182	0.13799	T	0.542746	0.18617	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.163	0.39748	B	.;.;.	.;.;.	2.980520	0.39752	21.0	0.99336022618205855	0.59973	0.49735	0.28501	N	AEFDI	0.167274	0.29393	N	-0.00943482081096755	0.41428	2.477762	0.0102987327194928	0.40192	2.39477	0.007067633516807	0.11376	0.553676	0.25195	0	0.588015	0.36545	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	4.78	4.78	0.60666	3.030000	0.49407	6.888000	0.56832	0.599000	0.40250	0.694000	0.28569	1.000000	0.68203	0.727000	0.35000	0.0:1.0:0.0:0.0	13.629	0.61654	588	0.69043	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1447.43	137	chr12	80333059	.	C	T	1447.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.65;DP=484;ExcessHet=0;FS=3.118;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.57;ReadPosRankSum=-0.845;SOR=0.52	GT:AD:DP:GQ:PL	0/1:80,57:137:99:1459,0,2055	9	0	1	0
chr12	85137906	85137906	T	G	exonic	LRRIQ1	.	nonsynonymous SNV	LRRIQ1:NM_001079910:exon19:c.T4266G:p.I1422M	.	438	1043	38	2	1	43	0.0197368	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.079	.	0.0074	0.0115815	0.0086	0.0092	0.0039	0.0015	0.0023	0.0077	0.0079	0.0218	0.0081823	1265	154602	rs61740224	0.0081	0.0082	0.0079	0.0084	0.0205	0.0080	0.0080	0.0197	0.0194	0.0120	0.0033	0.0097	0.0009	0.0034	0.0191	0.0075	0.0102	0.0205	0.0078	0.0078	0.0079	0.0078	0.0222	0.0075	0.0073	0.0188	0.0175	0.0106	0	0.0040	0.0049	0.0025	0.0020	0.0034	0.0075	0.0090	0.0222	0.066	0.36113	T	0.004	0.74150	D	0.993	0.65571	D	0.879	0.62418	P	.	.	.	.	0.893066	0.27846	N	0.49	0.13296	N	0.56	0.54540	T	-1.4	0.34596	N	0.201	0.22228	-0.9269	0.44588	T	0.129	0.43807	T	9	0.0058375597	0.00130	T	.	.	.	0.079	0.23065	.	.	0.574056412462	0.57073	0.24462733418689878	0.24376	0.0133742715398	0.01285	0.398845642805	0.24907	T	0.002421	0.01816	T	-0.551364	0.00286	T	-0.548516	0.17468	T	0.0402086683331908	0.03729	T	0.59804	0.22252	T	0.09143171	0.21423	0.15386857	0.36138	0.09143171	0.21423	0.15386857	0.36137	-5.201	0.38952	T	.	.	0.117	0.23814	B	.	.	2.304364	0.29492	18.14	0.93498086442423889	0.23303	0.83457	0.42573	D	AEI	0.204127	0.33059	N	0.21632193234321	0.51991	3.376164	0.224350590449569	0.51203	3.304788	9.71287062153123E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.56	3.24	0.36257	1.550000	0.35830	0.857000	0.22192	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.1238:0.0:0.8762	9.607	0.38806	880	0.29376	IQ motif, EF-hand binding site	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	742.43	58	chr12	85137906	.	T	G	742.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.237;DP=360;ExcessHet=0;FS=2.245;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.8;ReadPosRankSum=-0.303;SOR=0.374	GT:AD:DP:GQ:PL	0/1:29,29:58:99:754,0,756	9	0	1	0
chr12	88060951	88060951	A	G	exonic	CEP290	.	nonsynonymous SNV	CEP290:NM_025114:exon47:c.T6401C:p.I2134T	Joubert syndrome 5, Autosomal recessive;Leber congenital amaurosis 10;Meckel syndrome 4, Autosomal recessive;Senior-Loken syndrome 6, Autosomal recessive	386	1115	18	3	0	24	0.0106477	.	.	.	177274	Intellectual_disability|Leber_congenital_amaurosis_10|Bardet-Biedl_syndrome_14|Senior-Loken_syndrome_6|not_specified|Leber_congenital_amaurosis|not_provided|Joubert_syndrome_5|Meckel_syndrome,_type_4|Meckel-Gruber_syndrome|Nephronophthisis|Joubert_syndrome	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|MONDO:MONDO:0012723,MedGen:C1857821,OMIM:611755,Orphanet:65|MONDO:MONDO:0014442,MedGen:C2673874,OMIM:615991,Orphanet:110|MONDO:MONDO:0012433,MedGen:C1857779,OMIM:610189,Orphanet:3156|MedGen:CN169374|MONDO:MONDO:0018998,MeSH:D057130,MedGen:C0339527,OMIM:PS204000,Orphanet:65|MedGen:C3661900|MONDO:MONDO:0012432,MedGen:C1857780,OMIM:610188,Orphanet:2318|MONDO:MONDO:0012626,MedGen:C1970161,OMIM:611134,Orphanet:564|MONDO:MONDO:0018921,MedGen:C0265215,OMIM:PS249000,Orphanet:564|Human_Phenotype_Ontology:HP:0000090,Human_Phenotype_Ontology:HP:0004748,MONDO:MONDO:0019005,MedGen:C0687120,OMIM:PS256100,Orphanet:655|MONDO:MONDO:0018772,MedGen:C0431399,OMIM:PS213300,Orphanet:475	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.406	.	0.0055	0.00579073	0.0147	0.0019	0.0014	0	0.0011	0.0191	0.0069	0.0195	0.0053816	832	154602	rs117852025	0.0075	0.0075	0.0072	0.0078	0.0163	0.0074	0.0074	0.0155	0.0152	0.0012	0.0024	0.0363	5.289e-05	0.0011	0.0163	0.0070	0.0100	0.0163	0.0053	0.0053	0.0054	0.0051	0.0137	0.0050	0.0049	0.0110	0.0101	0.0015	0	0.0018	0.0478	0.0008	0.0009	0.0102	0.0066	0.0062	0.0137	0.003	0.68238	D	0.019	0.59159	D	0.999	0.77913	D	0.964	0.71005	D	0.000003	0.62929	D	0.101317	0.99994	0.51968	D	1.975	0.53506	M	-0.9	0.74896	T	-1.88	0.43906	N	0.834	0.95021	-0.0647	0.80894	T	0.483	0.80270	T	10	0.009030223	0.00204	T	.	.	.	0.406	0.71869	.	.	0.875205848546	0.87398	0.34686869949352617	0.34600	0.378355118775	0.39249	0.710693120956	0.68693	T	0.476381	0.80704	T	-0.0341945	0.46804	T	0.189782	0.82556	D	0.0166690938146821	0.00426	T	0.847515	0.52873	T	0.16860478	0.37327	0.25384763	0.51040	0.19353971	0.41067	0.26356167	0.52163	-8.001	0.61077	D	0.7348488337888284	0.81667	0.347	0.56403	A	.;.;.	.;.;.	4.609159	0.73081	25.9	0.99875343345217849	0.95244	0.98733	0.86156	D	AEFBI	0.884967	0.81510	D	0.806607080363494	0.86520	8.911169	0.806839436661137	0.90263	10.32915	0.999996654593781	0.74766	0.732398	0.92422	0	0.709663	0.81188	0	0.618467	0.43123	0	0.727631	0.95156	0	.	.	6.03	6.03	0.97798	8.349000	0.89970	11.229000	0.90032	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	1.0:0.0:0.0:0.0	16.558	0.84362	876	0.30350	.;.;.	.	.	.	.	.	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	0.015152	0.000000	0.009511	0.005882	0.050000	0.000000	0.036810	0.022727	0.05	707.43	87	chr12	88060951	.	A	G	707.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.62;DP=457;ExcessHet=0;FS=7.438;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.13;ReadPosRankSum=1.19;SOR=0.259	GT:AD:DP:GQ:PL	0/1:53,34:87:99:719,0,1416	9	0	1	0
chr12	89523808	89523808	C	G	exonic	GALNT4;POC1B-GALNT4	.	nonsynonymous SNV	GALNT4:NM_003774:exon1:c.G742C:p.E248Q,POC1B-GALNT4:NM_001199781:exon3:c.G733C:p.E245Q	.	416	1101	5	0	0	5	0.00226552	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.208	0.0271437575307	.	0.000199681	0.0002	0	0	0	0	0	0	0.0026	0.0002458	38	154602	rs574777128	0.0001	0.0001	8.263e-05	0.0002	0.0019	0.0001	0.0001	0.0017	0.0016	3.274e-05	0	0	0	0	0.0009	2.782e-05	0.0002	0.0019	7.878e-05	7.874e-05	6.423e-05	9.4e-05	0.0012	4.493e-05	3.509e-05	0.0005	0.0004	0	0	0	0	0	0	0.0034	7.348e-05	0	0.0012	0.141	0.25560	T	0.321	0.19073	T	0.961	0.55431	D	0.864	0.61462	P	.	.	.	.	1	0.81001	D	1.425	0.35738	L	0.24	0.59583	T	-0.6	0.18670	N	0.075	0.04913	-0.5747	0.65827	T	0.294	0.66555	T	9	0.020221353	0.00462	T	0.027144	0.49992	D	0.208	0.49714	.	.	0.818837503132	0.81712	0.37310838660680967	0.39182	0.548523735457	0.57051	0.456362783909	0.32813	T	0.054906	0.29856	T	-0.42278	0.01642	T	-0.384686	0.35173	T	0.181565202619574	0.19334	T	0.863714	0.56064	D	0.37732998	0.59122	0.31609908	0.57593	0.37732998	0.59123	0.31609908	0.57592	-4.535	0.31344	T	.	.	0.114	0.22644	B	.;.	.;.	3.712447	0.53010	23.3	0.99617160359294687	0.75172	0.96416	0.69031	D	AEFBCI	.	.	.	0.458763866468327	0.64700	4.730747	0.446830741138831	0.64513	4.708261	0.999999999995847	0.74766	0.542737	0.22433	0	0.627608	0.54475	0	0.658983	0.55881	0	0.638787	0.57140	0	.	.	5.45	5.45	0.79688	4.847000	0.62565	7.736000	0.67890	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.771000	0.36558	0.0:1.0:0.0:0.0	18.261	0.89973	859	0.33891	Glycosyltransferase 2-like;Glycosyltransferase 2-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	0.001007	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.003788	0.05	2039.43	167	chr12	89523808	.	C	G	2039.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.65;DP=541;ExcessHet=0;FS=5.719;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.21;ReadPosRankSum=0.254;SOR=0.385	GT:AD:DP:GQ:PL	0/1:98,69:167:99:2051,0,2884	9	0	1	0
chr12	104067989	104067989	C	T	exonic	HCFC2	.	nonsynonymous SNV	HCFC2:NM_013320:exon3:c.C355T:p.P119S	.	434	1033	51	4	0	59	0.0277647	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.082	.	0.0019	0.0217652	0.0118	0.0028	0.0015	0.0003	0.0002	0.0020	0.0154	0.0748	0.0103815	1605	154602	rs150909028	0.0055	0.0055	0.0036	0.0074	0.0716	0.0054	0.0053	0.0701	0.0695	0.0022	0.0017	0.0155	0.0002	9.373e-05	0.0138	0.0007	0.0079	0.0716	0.0041	0.0041	0.0031	0.0052	0.0738	0.0039	0.0038	0.0675	0.0650	0.0027	0	0.0012	0.0164	0.0015	9.457e-05	0	0.0010	0.0043	0.0738	0.762	0.06441	T	0.509	0.19188	T	0.0	0.02946	B	0.0	0.01387	B	0.017630	0.27675	N	0.465207	0.994542	0.23495	N	-0.2	0.04182	N	-0.73	0.73100	T	1.14	0.01488	N	0.079	0.05414	-1.0032	0.28992	T	0.097	0.36341	T	10	0.0012520552	0.00014	T	.	.	.	0.082	0.23913	.	.	.	.	0.2593041446709966	0.25844	0.812225268878	0.66784	0.273396193981	0.06588	T	0.025239	0.18911	T	-0.471885	0.00827	T	-0.395535	0.33905	T	0.000383467336503744	0.00003	T	0.70043	0.31009	T	0.028307982	0.02149	0.032848753	0.02084	0.028307982	0.02149	0.032848753	0.02084	-3.569	0.17410	T	.	.	0.060	0.02993	B	.;.	.;.	0.605430	0.09738	6.507	0.72821341790466698	0.10107	0.05369	0.11230	N	AEFBI	0.031441	0.03364	N	-1.11600442923523	0.06358	0.2924515	-0.96389539465514	0.10602	0.5350199	0.989493607714454	0.31844	0.651	0.46895	0	0.708844	0.79440	0	0.618467	0.43123	0	0.635551	0.53088	0	.	.	5.64	-0.9	0.10008	0.467000	0.21747	0.047000	0.13948	-0.167000	0.11441	0.035000	0.20724	0.005000	0.19230	0.974000	0.55675	0.0:0.2705:0.1259:0.6036	5.946	0.18456	819	0.41190	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.014602	0.000000	0.008152	0.005848	0.000000	0.008621	0.018293	0.041667	0.1	4678.12	154	chr12	104067989	.	C	T	4678.12	.	AC=2;AF=0.1;AN=20;DP=468;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.1;MQ=60;QD=30.38;SOR=0.801	GT:AD:DP:GQ:PL	1/1:0,154:154:99:4701,462,0	9	1	0	0
chr12	107319758	107319758	G	A	exonic	BTBD11	.	nonsynonymous SNV	BTBD11:NM_001018072:exon1:c.G818A:p.G273D,BTBD11:NM_001347943:exon1:c.G818A:p.G273D	.	421	1096	5	0	0	5	0.00227583	.	.	.	3301751	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.151	0.190181863539	.	.	0.0008	0	0	0	.	0	0	0.0011	7.12e-05	11	154602	rs776099215	0.0002	0.0002	0.0001	0.0002	0.0048	0.0002	0.0002	0.0032	0.0027	7.04e-05	2.949e-05	0	0	0	0.0048	0.0001	0.0003	0.0012	8.575e-05	8.534e-05	5.161e-05	0.0001	0.0006	4.975e-05	3.977e-05	0.0002	9.018e-05	0	0	0	0	0	0	0.0034	0.0001	0	0.0006	0.029	0.48186	D	0.097	0.41239	T	0.001	0.14655	B	0.001	0.12992	B	0.003899	0.34365	N	0.132994	0.951023	0.26485	N	1.355	0.33814	L	1.21	0.37230	T	0.01	0.11547	N	0.162	0.25745	-1.0790	0.07543	T	0.040	0.17063	T	10	0.025513679	0.00743	T	0.190182	0.86108	D	0.151	0.39764	.	.	0.517039506269	0.51347	0.12226249392938374	0.12153	1.35654827565	0.84194	0.8530382514	0.90072	D	0.004837	0.04259	T	-0.386863	0.02818	T	-0.369012	0.37005	T	0.037854607996409	0.03306	T	0.666933	0.27600	T	0.097774565	0.23052	0.19849801	0.43685	0.097774565	0.23052	0.19849801	0.43684	-9.448	0.71076	D	.	.	0.205	0.43088	B	.;.;.	.;.;.	3.079282	0.41422	21.4	0.98876594198085155	0.47736	0.27414	0.23270	N	AEFDBCI	0.042264	0.06534	N	-0.453056400895256	0.23637	1.270687	-0.307882737989966	0.27844	1.547918	0.999999977844396	0.74766	0.446893	0.09132	0	0.563428	0.19063	0	0.503968	0.08637	0	0.554799	0.18163	0	.	.	4.41	3.44	0.38486	0.714000	0.25478	8.002000	0.76154	0.575000	0.29119	0.264000	0.24988	1.000000	0.68203	0.630000	0.32157	0.1058:0.1995:0.6948:0.0	5.726	0.17280	454	0.79125	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.006631	0.000000	0.005556	0.014706	0.000000	0.011364	0.000000	0.010204	0.05	461.43	43	chr12	107319758	.	G	A	461.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.184;DP=236;ExcessHet=0;FS=1.194;InbreedingCoeff=-0.0529;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.73;ReadPosRankSum=-0.45;SOR=0.475	GT:AD:DP:GQ:PL	0/1:22,21:43:99:473,0,492	9	0	1	0
chr12	108788442	108788442	G	C	exonic	SSH1	.	nonsynonymous SNV	SSH1:NM_018984:exon15:c.C2696G:p.P899R	.	417	1092	12	1	0	14	0.00636943	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.031	0.00729197730204	0.0002	0.00119808	0.0013	0.0001	0.0005	0	0	0.0010	0.0013	0.0066	0.001119	173	154602	rs146273433	0.0007	0.0008	0.0005	0.0009	0.0054	0.0007	0.0007	0.0050	0.0048	3.121e-05	0.0013	0.0081	0	1.957e-05	0.0036	0.0002	0.0014	0.0054	0.0009	0.0009	0.0008	0.0011	0.0050	0.0008	0.0008	0.0034	0.0029	7.218e-05	0	0.0031	0.0098	0	0	0.0102	0.0004	0.0019	0.0050	0.042	0.41637	D	0.431	0.13673	T	0.201	0.29693	B	0.063	0.27082	B	0.526348	0.11686	N	0.802027	1	0.08975	N	1.61	0.41143	L	2.79	0.11189	T	-1.02	0.26843	N	0.124	0.11626	-1.0071	0.27819	T	0.027	0.11707	T	10	0.0038118064	0.00072	T	0.007292	0.19334	T	0.031	0.07369	.	.	0.19168177325	0.18762	0.31280380106991573	0.31193	0.281092337101	0.30582	0.333899259567	0.15521	T	0.044405	0.26805	T	-0.561553	0.00248	T	-0.577766	0.14745	T	0.0115682726316698	0.00175	T	0.744526	0.36463	T	0.035950575	0.04328	0.042760726	0.05165	0.035950575	0.04328	0.042760726	0.05165	-3.494	0.16348	T	.	.	0.089	0.12276	B	.	.	2.181558	0.27809	17.59	0.94268694792386953	0.24555	0.37481	0.25772	N	AEFDBCI	0.157702	0.28325	N	-0.780241233445969	0.13826	0.6839557	-0.871908698914118	0.12761	0.6583303	0.995597463849118	0.34213	0.67177	0.52595	0	0.702456	0.74545	0	0.658983	0.55881	0	0.711	0.71501	0	.	.	5.25	1.0	0.18999	1.379000	0.33946	2.357000	0.32349	0.676000	0.76740	0.002000	0.15269	0.043000	0.21642	0.636000	0.32315	0.1389:0.2472:0.6139:0.0	7.893	0.28851	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	0.004028	0.000000	0.001359	0.000000	0.000000	0.000000	0.018293	0.007576	0.05	1490.43	129	chr12	108788442	.	G	C	1490.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.217;DP=558;ExcessHet=0;FS=5.369;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.55;ReadPosRankSum=-1.136;SOR=1.108	GT:AD:DP:GQ:PL	0/1:65,64:129:99:1502,0,1779	9	0	1	0
chr12	109800711	109800711	C	T	exonic	TRPV4	.	nonsynonymous SNV	TRPV4:NM_147204:exon4:c.G760A:p.V254M,TRPV4:NM_001177431:exon5:c.G658A:p.V220M,TRPV4:NM_021625:exon5:c.G760A:p.V254M	Brachyolmia type 3, Autosomal dominant;Digital arthropathy-brachydactyly, familial, Autosomal dominant;Hereditary motor and sensory neuropathy, type IIc, Autosomal dominant;Metatropic dysplasia, Autosomal dominant;Parastremmatic dwarfism, Autosomal dominant;SED, Maroteaux type, Autosomal dominant;Scapuloperoneal spinal muscular atrophy, Autosomal dominant;Spinal muscular atrophy, distal, congenital nonprogressive, Autosomal dominant;Spondylometaphyseal dysplasia, Kozlowski type, Autosomal dominant	0	1509	12	1	0	14	0.00461741	.	.	.	315989	Charcot-Marie-Tooth_disease_axonal_type_2C|Scapuloperoneal_spinal_muscular_atrophy|Neuronopathy,_distal_hereditary_motor,_autosomal_dominant_8|Inborn_genetic_diseases|TRPV4-related_disorder|Brachyrachia_(short_spine_dysplasia)|Metatropic_dysplasia|Spondylometaphyseal_dysplasia,_Kozlowski_type|not_provided|Charcot-Marie-Tooth_disease|not_specified	MONDO:MONDO:0011633,MedGen:C1853710,OMIM:606071,Orphanet:99937|MONDO:MONDO:0008408,MedGen:C0751335,OMIM:181405,Orphanet:431255|MONDO:MONDO:0010839,MedGen:C1838492,OMIM:600175,Orphanet:1216|MeSH:D030342,MedGen:C0950123|.|MONDO:MONDO:0007232,MedGen:C0432227,OMIM:113500,Orphanet:93304|MONDO:MONDO:0007986,MedGen:C0265281,OMIM:156530,Orphanet:2635|MONDO:MONDO:0008477,MedGen:C0265280,OMIM:184252,Orphanet:93314|MedGen:C3661900|MONDO:MONDO:0015626,MedGen:C0007959,OMIM:PS118220,Orphanet:166|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.710	0.142466146923	0.0002	.	0.0005	9.773e-05	0.0003	0	0	0.0002	0	0.0025	0.0003752	58	154602	rs143548402	0.0002	0.0002	0.0001	0.0003	0.0023	0.0002	0.0002	0.0021	0.0020	2.987e-05	0	0	2.519e-05	1.874e-05	0.0005	8.903e-05	0.0002	0.0023	0.0001	0.0001	3.854e-05	0.0002	0.0014	8.163e-05	6.72e-05	0.0007	0.0005	0	0	0	0	0	0	0	0.0001	0.0009	0.0014	0.001	0.78490	D	0.002	0.79402	D	1.0	0.90584	D	0.933	0.92359	D	0.000001	0.62929	D	0.057044	0.999106	0.81001	D	2.465	0.71551	M	-0.69	0.72678	T	-2.5	0.54382	D	0.77	0.83473	0.089	0.83978	D	0.522	0.82148	D	10	0.3054291	0.48060	T	0.142466	0.82484	D	0.710	0.89650	.	.	0.838566508326	0.83702	0.8923196957769167	0.89201	1.19608821648	0.80400	0.806610047817	0.82972	D	0.545452	0.84512	D	-0.150593	0.28218	T	0.00412262	0.70602	D	0.162303904316865	0.18040	T	0.960304	0.85063	D	0.6894926	0.77484	0.6638032	0.80292	0.81405336	0.84823	0.6571573	0.79924	-12.472	0.87870	D	0.7530580368768998	0.83512	0.943	0.90519	P	.;.;.;.	.;.;.;.	4.717481	0.75853	26.4	0.99869224030827952	0.94726	0.97656	0.76199	D	AEFDBI	0.862202	0.78044	D	0.448275972145442	0.64105	4.657754	0.354340023546599	0.58769	4.049636	0.783781668867023	0.23892	0.706548	0.73137	0	0.547309	0.14657	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	4.92	4.03	0.46115	7.562000	0.81274	4.748000	0.44643	-0.176000	0.10722	1.000000	0.71638	1.000000	0.68203	0.061000	0.16044	0.0:0.9167:0.0:0.0833	12.266	0.53996	704	0.57414	Ankyrin repeat-containing domain|Ankyrin repeat-containing domain;Ankyrin repeat-containing domain|Ankyrin repeat-containing domain;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.001511	0.000000	0.000000	0.005848	0.000000	0.000000	0.000000	0.003788	0.05	2201.43	144	chr12	109800711	.	C	T	2201.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.283;DP=502;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=15.29;ReadPosRankSum=-1.306;SOR=0.64	GT:AD:DP:GQ:PL	0/1:56,88:144:99:2213,0,1176	9	0	1	0
chr12	113358755	113358755	A	G	exonic	PLBD2	.	nonsynonymous SNV	PLBD2:NM_001159727:exon1:c.A155G:p.D52G,PLBD2:NM_173542:exon1:c.A155G:p.D52G	.	438	1059	22	3	0	28	0.0130475	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.052	.	0.0021	0.00459265	0.0177	0	0	0	0	0.0264	0	0.0206	0.0018564	287	154602	rs200189038	0.0058	0.0055	0.0056	0.0061	0.0157	0.0057	0.0057	0.0149	0.0145	0.0004	0.0031	0.0129	0	0.0028	0.0105	0.0056	0.0058	0.0157	0.0045	0.0045	0.0043	0.0047	0.0162	0.0042	0.0041	0.0133	0.0122	0.0010	0	0.0039	0.0130	0.0004	0.0018	0.0137	0.0062	0.0047	0.0162	0.283	0.17069	T	0.496	0.12704	T	0.0	0.02946	B	0.001	0.04355	B	0.047936	0.01979	N	2.507700	1	0.08975	N	0.29	0.10111	N	2.23	0.18083	T	-0.01	0.07155	N	0.058	0.02964	-1.0125	0.26133	T	0.021	0.08686	T	10	0.0035566092	0.00064	T	.	.	.	0.052	0.14661	.	.	0.0920862733494	0.08535	0.33637053039387116	0.33550	0.470108560931	0.46299	0.632033109665	0.57433	T	0.004557	0.03968	T	-0.713791	0.00030	T	-0.792961	0.02084	T	0.00700592945269222	0.00080	T	0.272373	0.04609	T	0.11113813	0.26266	0.05130903	0.08232	0.11113813	0.26266	0.05130903	0.08232	-2.822	0.08388	T	.	.	0.059	0.00820	B	.;.	.;.	0.241555	0.06217	2.669	0.8070310520174433	0.13328	0.03588	0.08809	N	ALL	0.035199	0.04490	N	-1.25460861235835	0.04239	0.190929	-1.27970032880337	0.04705	0.2225803	0.999999999999881	0.74766	0.72623	0.87236	0	0.484254	0.07192	0	0.594344	0.31042	0	0.372554	0.06265	0	.	.	3.28	-0.459	0.11571	-0.179000	0.09761	-0.178000	0.11160	-0.146000	0.12295	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.5822:0.0:0.4178:0.0	5.786	0.17597	873	0.30802	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.005624	0.012195	0.000000	0.003125	0.000000	0.030000	0.027778	0.000000	0.05	422.43	35	chr12	113358755	.	A	G	422.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.667;DP=338;ExcessHet=0;FS=1.32;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.07;ReadPosRankSum=1.16;SOR=1.061	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:18,17:35:99:0|1:113358755_A_G:434,0,431:113358755	9	0	1	0
chr12	122186194	122186194	C	T	exonic	LRRC43	.	nonsynonymous SNV	LRRC43:NM_001098519:exon3:c.C416T:p.T139I	.	413	1097	12	0	0	12	0.00543971	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.070	.	0.0011	0.00159744	0.0027	0.0006	0.0109	0	0	0.0032	0.0102	0.0017	0.0011061	171	154602	rs182225221	0.0009	0.0009	0.0008	0.0010	0.0152	0.0009	0.0008	0.0126	0.0117	0.0010	0.0025	0.0016	0	0.0002	0.0152	0.0007	0.0022	0.0010	0.0013	0.0013	0.0012	0.0014	0.0039	0.0011	0.0011	0.0031	0.0028	0.0002	0	0.0039	0.0026	0	0.0002	0.0102	0.0014	0.0057	0.0010	0.028	0.46129	D	0.019	0.59159	D	0.911	0.50336	P	0.461	0.46460	P	.	.	.	.	1	0.22332	N	1.65	0.42232	L	1.85	0.24472	T	-3.81	0.71882	D	0.198	0.21839	-1.0177	0.24463	T	0.035	0.14987	T	9	0.0064255893	0.00146	T	.	.	.	0.070	0.20419	.	.	0.0716867268079	0.06686	0.3593035167118251	0.35844	0.563251462079	0.52768	0.332543611526	0.15319	T	0.057147	0.30484	T	-0.557639	0.00262	T	-0.580571	0.14493	T	0.0562179745177423	0.06560	T	0.673733	0.28234	T	0.110311665	0.26074	0.22233997	0.47075	0.110311665	0.26074	0.22233997	0.47074	-6.21	0.48004	T	.	.	0.224	0.45581	B	.	.	2.325030	0.29777	18.23	0.99728489606297277	0.82619	0.09046	0.14879	N	AEFDBI	0.070225	0.13932	N	-0.488181304004024	0.22467	1.199895	-0.567198074296388	0.20351	1.096048	0.180935279603134	0.17870	0.554377	0.28877	0	0.59043	0.45803	0	0.59043	0.30614	0	0.567892	0.33627	0	.	.	5.11	-1.91	0.07225	0.134000	0.15755	0.116000	0.14850	-0.273000	0.06669	0.021000	0.19753	0.384000	0.24630	0.807000	0.38039	0.1987:0.6328:0.1685:0.0	10.127	0.41828	759	0.50631	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.015121	0.005051	0.021739	0.026316	0.000000	0.008772	0.003049	0.003788	0.05	1034.43	87	chr12	122186194	.	C	T	1034.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.46;DP=405;ExcessHet=0;FS=0.853;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.89;ReadPosRankSum=-2.219;SOR=0.566	GT:AD:DP:GQ:PL	0/1:47,40:87:99:1046,0,1227	9	0	1	0
chr12	123767674	123767674	G	A	exonic	DNAH10	.	nonsynonymous SNV	DNAH10:NM_001372106:exon2:c.G283A:p.V95M,DNAH10:NM_207437:exon2:c.G100A:p.V34M	.	426	1092	4	0	0	4	0.00182815	.	.	.	2283709	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.003	0.00338348418667	.	0.000199681	4.164e-05	0	0	0.0003	0	1.837e-05	0	7.769e-05	3.88e-05	6	154602	rs190206140	2.056e-05	2.189e-05	1.227e-05	2.894e-05	0.0002	1.458e-05	1.266e-05	8.21e-05	5.792e-05	0	0	0	0.0002	0	0.0002	1.17e-05	6.634e-05	5.848e-05	2.626e-05	3.281e-05	0	5.37e-05	0.0006	8.14e-06	5.14e-06	0.0002	8.378e-05	2.405e-05	0	0	0	0.0006	0	0	0	0	0	.	.	.	.	.	.	0.007	0.14184	B	0.003	0.08700	B	.	.	.	.	1	0.08975	N	0.205	0.09354	N	.	.	.	.	.	.	.	.	-1.0115	0.26447	T	0.029	0.12629	T	9	0.027405828	0.00887	T	0.003383	0.07572	T	0.003	0.00094	.	.	0.0482279557977	0.04254	0.20868968524455417	0.20784	0.145038065069	0.16392	0.277152776718	0.07099	T	1.24E-4	0.00015	T	-0.650276	0.00072	T	-0.826915	0.01318	T	0.0191352496973482	0.00621	T	0.39556	0.10990	T	0.022208901	0.00869	0.036629736	0.03149	0.022208901	0.00869	0.036629736	0.03148	-4.342	0.28761	T	.	.	0.074	0.05274	B	.;.	.;.	-1.272380	0.00462	0.010	0.87783979040504012	0.17479	0.01524	0.05024	N	AEFDGBHCI	0.023656	0.01350	N	-1.4570851632058	0.02161	0.09514816	-1.54157732996486	0.02034	0.09299481	0.999822026258001	0.43622	0.495158	0.18159	0	0.616935	0.53198	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	3.57	-4.2	0.03562	-2.018000	0.01532	-9.264000	0.00844	-1.788000	0.00641	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.6375:0.1579:0.2046:0.0	6.239	0.19991	332	0.86382	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000507	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.05	802.43	71	chr12	123767674	.	G	A	802.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.14;DP=383;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.3;ReadPosRankSum=-0.846;SOR=0.749	GT:AD:DP:GQ:PL	0/1:36,35:71:99:814,0,817	9	0	1	0
chr12	123864689	123864689	G	C	exonic	DNAH10	.	nonsynonymous SNV	DNAH10:NM_207437:exon39:c.G6649C:p.E2217Q,DNAH10:NM_001372106:exon40:c.G7003C:p.E2335Q	.	432	1062	28	0	0	28	0.0130112	.	.	.	713419	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.738	.	0.0015	0.00698882	0.0036	0.0003	0.0010	0	0.0009	0.0017	0.0034	0.0182	0.0033505	518	154602	rs200400425	0.0025	0.0025	0.0021	0.0030	0.0176	0.0025	0.0024	0.0168	0.0165	0.0001	0.0009	0.0004	2.519e-05	0.0011	0.0081	0.0017	0.0027	0.0176	0.0020	0.0020	0.0017	0.0023	0.0199	0.0018	0.0018	0.0167	0.0155	0.0003	0	0.0018	0.0006	0.0002	0.0008	0.0068	0.0022	0.0033	0.0199	.	.	.	.	.	.	1.0	0.90584	D	0.999	0.92359	D	0.000001	0.84330	U	0.000000	1	0.81001	D	3.205	0.89189	M	.	.	.	.	.	.	.	.	1.018	0.97503	D	0.904	0.96832	D	10	0.013560176	0.00287	T	.	.	.	0.738	0.90895	.	.	0.708094432405	0.70554	0.6582395555723624	0.65760	0.634720271149	0.57315	0.806533932686	0.82961	D	0.189043	0.54314	T	-0.0359428	0.46550	T	0.18922	0.82525	D	0.063691609664845	0.07736	T	0.950005	0.80823	D	0.49002495	0.66504	0.3608338	0.61518	0.49002495	0.66505	0.3608338	0.61518	-12.565	0.87494	D	.	.	0.849	0.79706	P	.;.	.;.	4.943399	0.81600	27.6	0.99832676779395413	0.91456	0.99123	0.91564	D	AEFBI	0.939597	0.94040	D	0.950550326054816	0.94008	12.43397	0.87195579580291	0.94230	12.60199	0.999999979035594	0.74766	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.530356	0.10902	0	.	.	5.46	5.46	0.80021	10.003000	0.99689	11.748000	0.95342	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.882000	0.42233	0.0:0.0:1.0:0.0	19.315	0.94195	624	0.65661	ATPase, dynein-related, AAA domain|AAA+ ATPase domain;ATPase, dynein-related, AAA domain|AAA+ ATPase domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.005544	0.000000	0.004076	0.005848	0.000000	0.025862	0.006098	0.007576	0.05	1374.43	130	chr12	123864689	.	G	C	1374.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.869;DP=511;ExcessHet=0;FS=4.297;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.57;ReadPosRankSum=-0.316;SOR=0.418	GT:AD:DP:GQ:PL	0/1:75,55:130:99:1386,0,1975	9	0	1	0
chr13	19465563	19465563	A	G	exonic	TPTE2	.	nonsynonymous SNV	TPTE2:NM_130785:exon6:c.T283C:p.W95R,TPTE2:NM_001141968:exon7:c.T181C:p.W61R,TPTE2:NM_199254:exon9:c.T514C:p.W172R	.	698	816	7	1	0	9	0.00548446	0.0178	0.176	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.376	.	.	0.000798722	0.0019	0.0001	0.0006	0.0001	0	0.0002	0.0026	0.0127	0.0013454	208	154602	rs201557972	0.0006	0.0006	0.0003	0.0008	0.0088	0.0005	0.0005	0.0083	0.0080	0	0.0003	0	0	0	0.0029	2.995e-05	0.0009	0.0088	0.0003	0.0003	0.0002	0.0004	0.0072	0.0002	0.0002	0.0054	0.0047	0	0	0	0	0.0002	0	0	0.0001	0.0005	0.0072	0.157	0.65419	T	0.112	0.51421	T	0.501	0.40197	P	0.495	0.47504	P	0.010647	0.29839	U	0.296702	1	0.08975	N	1.355	0.33814	L	-4.33	0.97292	D	-0.44	0.57599	N	0.276	0.37093	0.219	0.86234	D	0.785	0.92715	D	9	0.008460581	0.00192	T	.	.	.	0.376	0.69443	0.653	0.79068	0.608043754429	0.60489	0.5700239888666144	0.56930	0.973007424957	0.73449	0.362210005522	0.19707	T	0.320508	0.69169	T	-0.210949	0.19245	T	-0.0678284	0.65780	T	0.021053259569756	0.00806	T	0.261374	0.16548	T	0.14895096	0.33980	0.12575883	0.30295	0.14895096	0.33980	0.12575883	0.30295	-6.979	0.73719	T	.	.	0.325	0.67500	B	.;.;.;.;.	.;.;.;.;.	2.301024	0.29447	18.12	0.73640730079285144	0.10401	0.08052	0.14026	N	AEFI	0.045884	0.07554	N	-0.730678574100121	0.15164	0.7617831	-0.866957534573425	0.12881	0.6651423	1.36423116625974E-6	0.01202	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	2.79	-1.16	0.09181	0.212000	0.17289	0.190000	0.15733	0.542000	0.25261	0.683000	0.28466	0.000000	0.08366	0.026000	0.12556	0.3936:0.2522:0.3542:0.0	2.965	0.05545	970	0.06235	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001225	0.000000	0.000000	0.000000	0.000000	0.000000	0.008264	0.004348	0.05	1435.43	113	chr13	19465563	.	A	G	1435.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.165;DP=460;ExcessHet=0;FS=4.592;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=59.86;MQRankSum=0;QD=12.7;ReadPosRankSum=-2.568;SOR=1.131	GT:AD:DP:GQ:PL	0/1:55,58:113:99:1447,0,1430	9	0	1	0
chr13	39013865	39013865	C	T	exonic	PROSER1	.	nonsynonymous SNV	PROSER1:NM_170719:exon10:c.G1321A:p.G441S,PROSER1:NM_025138:exon11:c.G1387A:p.G463S	.	427	1094	1	0	0	1	0.00045683	.	.	.	2756693	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.020	0.00481053717881	.	.	4.943e-05	0	0	0	0.0002	5.994e-05	0	6.057e-05	4.53e-05	7	154602	rs201650265	4.036e-05	4.036e-05	4.492e-05	3.575e-05	0.0002	3.178e-05	2.91e-05	3.459e-05	3.121e-05	2.987e-05	0	0	0	7.488e-05	0.0002	4.496e-05	0	3.478e-05	3.944e-05	3.94e-05	7.711e-05	0	7.352e-05	1.716e-05	1.13e-05	2.847e-05	1.859e-05	0	0	0	0	0	0	0	7.352e-05	0.0005	0	0.225	0.18626	T	0.557	0.09205	T	0.005	0.12996	B	0.007	0.12992	B	.	.	.	.	1	0.08975	N	0.55	0.14455	N	1.45	0.32482	T	-1.02	0.26843	N	0.075	0.06190	-1.0009	0.29660	T	0.043	0.18368	T	8	0.049936205	0.04653	T	0.004811	0.12035	T	0.020	0.03691	0.179	0.08626	0.043077524339	0.03247	0.20378133051493505	0.20295	0.0686704794081	0.07693	0.37084659934	0.20954	T	0.008081	0.07436	T	-0.455795	0.01043	T	-0.710966	0.05245	T	0.0146571164142087	0.00303	T	0.751525	0.37371	T	0.045726195	0.07535	0.06488887	0.13071	0.045726195	0.07534	0.06488887	0.13070	-2.362	0.04976	T	.	.	0.069	0.05890	B	.;.	.;.	0.526638	0.08954	5.735	0.52349106474985685	0.04731	0.07557	0.13570	N	AEFDBCI	0.038018	0.05318	N	-0.952093723965607	0.09646	0.4574127	-0.960484065361367	0.10681	0.5394727	0.968282079099044	0.29041	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	4.88	1.91	0.24841	0.020000	0.13359	0.988000	0.23172	0.599000	0.40250	0.001000	0.13787	0.000000	0.08366	0.018000	0.11154	0.0:0.5281:0.0:0.4719	8.010	0.29508	872	0.31118	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	1959.43	153	chr13	39013865	.	C	T	1959.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.25;DP=482;ExcessHet=0;FS=2.057;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.81;ReadPosRankSum=1.01;SOR=0.514	GT:AD:DP:GQ:PL	0/1:81,72:153:99:1971,0,2205	9	0	1	0
chr13	41615006	41615006	C	T	exonic	VWA8	.	nonsynonymous SNV	VWA8:NM_015058:exon38:c.G4690A:p.V1564M	.	437	1083	2	0	0	2	0.000922509	.	.	YES	2840065	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.155	0.00576357475987	0.0071	0.00219649	0.0045	0.0010	0.0029	0	0.0011	0.0069	0.0044	0.0022	0.0048318	747	154602	rs73464952	0.0068	0.0068	0.0070	0.0067	0.0082	0.0067	0.0067	0.0081	0.0080	0.0011	0.0031	0.0014	0	0.0020	0.0015	0.0082	0.0049	0.0027	0.0046	0.0046	0.0047	0.0044	0.0076	0.0043	0.0042	0.0071	0.0069	0.0015	0.0011	0.0042	0.0017	0	0.0016	0	0.0076	0.0043	0.0033	0.015	0.52492	D	0.023	0.57104	D	0.996	0.68779	D	0.781	0.57337	P	0.000068	0.52346	D	0.125624	0.999987	0.54805	D	2.34	0.67151	M	2.64	0.12780	T	-2.34	0.51811	N	0.691	0.69649	-1.1963	0.00179	T	0.061	0.25455	T	10	0.010855824	0.00240	T	0.005764	0.14952	T	0.155	0.40530	.	.	0.185906805712	0.18197	0.6572900152040483	0.65666	0.359713744873	0.37668	0.709657132626	0.68544	T	0.124133	0.44896	T	-0.345577	0.05011	T	-0.258143	0.49009	T	0.0233892836265901	0.01070	T	0.963204	0.86318	D	0.10726589	0.25365	0.13922314	0.33225	0.10726589	0.25364	0.13922314	0.33224	-9.516	0.70958	D	.	.	0.394	0.59251	A	.	.	3.597241	0.50793	23.0	0.99915515378118347	0.98379	0.87463	0.47011	D	AEFDBCIJ	0.483597	0.52397	N	0.685561093088054	0.78685	6.921935	0.690292568686323	0.81640	7.574524	0.999999999999719	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.659464	0.59346	0	0.654926	0.60358	0	.	.	6.08	6.08	0.98982	3.858000	0.55690	1.824000	0.29063	0.599000	0.40250	0.998000	0.41325	0.934000	0.28616	0.852000	0.40310	0.0:1.0:0.0:0.0	18.436	0.90595	674	0.60593	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.002014	0.000000	0.001359	0.000000	0.000000	0.000000	0.006098	0.007576	0.05	1080.43	85	chr13	41615006	.	C	T	1080.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.049;DP=399;ExcessHet=0;FS=5.566;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.71;ReadPosRankSum=0.466;SOR=0.398	GT:AD:DP:GQ:PL	0/1:42,43:85:99:1092,0,1077	9	0	1	0
chr13	46343457	46343457	G	A	exonic	RUBCNL	.	nonsynonymous SNV	RUBCNL:NM_001286762:exon13:c.C1763T:p.P588L	.	0	225	1	0	0	1	0.00221729	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.077	0.0135408481119	0.0002	.	0.0001	9.962e-05	0.0003	0	0	0.0001	0	6.168e-05	0.0001035	16	154602	rs145783562	9.236e-05	9.235e-05	8.168e-05	0.0001	0.0007	7.959e-05	7.432e-05	0.0002	0.0001	0	0.0003	0.0002	0	1.873e-05	0.0007	9.084e-05	0.0002	3.478e-05	7.888e-05	7.88e-05	1.285e-05	0.0001	0.0001	4.498e-05	3.514e-05	6.805e-05	5.088e-05	7.244e-05	0	0	0	0	0	0	0.0001	0	0	0.0	0.91255	D	0.083	0.41405	T	0.054	0.22658	B	0.007	0.12992	B	0.656722	0.10463	N	0.845655	1	0.08975	N	.	.	.	-0.14	0.65006	T	1.81	0.00507	N	0.098	0.07949	-1.0287	0.20876	T	0.075	0.30148	T	9	0.021328986	0.00508	T	0.013541	0.33021	T	0.077	0.22490	.	.	0.134241683229	0.13084	.	.	.	.	.	.	.	.	.	.	-0.208754	0.19556	T	-0.227118	0.52051	T	0.0184138924285209	0.00558	T	0.547145	0.18749	T	.	.	.	.	.	.	.	.	-3.155	0.11939	T	.	.	0.083	0.09094	B	.	.	-0.083101	0.03741	0.775	0.90657843869056687	0.19909	0.07052	0.13078	N	AEFBCI	0.043787	0.06965	N	-1.24508912829608	0.04365	0.1968393	-1.31095523943321	0.04288	0.2019278	0.999862477172134	0.44398	0.67177	0.52595	0	0.702456	0.74545	0	0.658983	0.55881	0	0.567339	0.31927	0	.	.	5.55	-3.13	0.04944	-0.885000	0.04269	-7.950000	0.01056	-0.106000	0.15538	0.000000	0.06391	0.000000	0.08366	0.163000	0.20749	0.3291:0.1695:0.2831:0.2183	0.288	0.00236	906	0.23090	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	1673.43	108	chr13	46343457	.	G	A	1673.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=3.26;DP=426;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=15.49;ReadPosRankSum=-0.274;SOR=0.719	GT:AD:DP:GQ:PL	0/1:52,56:108:99:1685,0,1321	9	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.976	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;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.15	65.5	124	chr13	48459808	.	T	C	65.5	.	AC=3;AF=0.15;AN=20;BaseQRankSum=-3.846;DP=820;ExcessHet=0.7463;FS=98.847;InbreedingCoeff=-0.1558;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=0.17;ReadPosRankSum=0.782;SOR=9.616	GT:AD:DP:GQ:PL	0/1:99,25:124:3:3,0,2129	7	0	3	0
chr13	52846666	52846666	T	C	exonic	PCDH8	.	nonsynonymous SNV	PCDH8:NM_002590:exon1:c.A1771G:p.S591G,PCDH8:NM_032949:exon1:c.A1771G:p.S591G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.094	0.0328519598372	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.895e-07	1.368e-06	0	1.387e-06	.	0	0	.	.	0	0	0	0	0	0	0	1.668e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.089	0.32141	T	0.398	0.17064	T	0.026	0.19406	B	0.131	0.32951	B	0.000095	0.51296	D	0.000000	0.997981	0.44386	D	1.68	0.43186	L	0.7	0.51474	T	-2.11	0.52938	N	0.298	0.33687	-1.0311	0.20099	T	0.086	0.33494	T	10	0.18963549	0.34572	T	0.032852	0.54562	D	0.094	0.27141	0.716	0.85141	0.410734915765	0.40690	0.6495755230108065	0.64893	.	.	0.624761164188	0.56402	T	0.356556	0.72338	T	-0.159574	0.26824	T	-0.466993	0.25839	T	0.705677807331085	0.40990	D	0.808919	0.45897	T	0.42938924	0.62712	0.30084917	0.56118	0.42938924	0.62712	0.30084917	0.56117	-7.709	0.59195	D	.	.	0.098	0.19518	B	.;.	.;.	2.589368	0.33590	19.38	0.94353304752519285	0.24705	0.97802	0.77240	D	AEFDBCI	0.464095	0.51274	N	-0.260166382534136	0.30700	1.714235	-0.0889178887674112	0.35846	2.078823	0.999999997048909	0.74766	0.59774	0.34471	0	0.615948	0.52940	0	0.606814	0.37721	0	0.63947	0.58350	0	.	.	3.9	3.9	0.44240	3.813000	0.55340	0.468000	0.18684	0.553000	0.28181	1.000000	0.71638	0.230000	0.23777	0.998000	0.85391	0.0:0.0:0.0:1.0	12.894	0.57478	372	0.84213	Cadherin-like|Cadherin-like|Cadherin-like;Cadherin-like|Cadherin-like|Cadherin-like	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	956.43	89	chr13	52846666	.	T	C	956.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.886;DP=478;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.75;ReadPosRankSum=-1.358;SOR=0.646	GT:AD:DP:GQ:PL	0/1:44,45:89:99:968,0,1201	9	0	1	0
chr13	69882456	69882456	G	A	exonic	KLHL1	.	nonsynonymous SNV	KLHL1:NM_001286725:exon4:c.C871T:p.L291F,KLHL1:NM_020866:exon5:c.C1054T:p.L352F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.426	0.0648284192983	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.012	0.54683	D	0.021	0.63109	D	0.998	0.73220	D	0.992	0.80445	D	0.000036	0.55875	D	0.000000	0.986518	0.40444	D	2.89	0.83701	M	-0.39	0.69158	T	-2.91	0.60982	D	0.547	0.58629	0.346	0.88281	D	0.580	0.84898	D	10	0.5550405	0.64469	D	0.064828	0.69397	D	0.426	0.73372	0.457	0.52265	0.77630264569	0.77424	0.20463235290269857	0.20380	0.210258746393	0.23511	0.712280154228	0.68924	T	0.595999	0.86982	D	0.0531689	0.58749	T	-0.161403	0.58226	T	0.988282024860382	0.78636	D	0.964204	0.86724	D	0.46265322	0.64836	0.37256262	0.62462	0.46265322	0.64837	0.37256262	0.62462	-10.752	0.78280	D	.	.	0.481	0.63722	A	.;.	.;.	5.474448	0.91308	32	0.99901283922638506	0.97275	0.94895	0.62702	D	AEFI	0.697597	0.65555	D	0.812871305168358	0.86905	9.037639	0.740323524884371	0.85433	8.578981	0.985978107960792	0.30982	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.08	5.08	0.68373	3.554000	0.53466	11.664000	0.94021	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:1.0:0.0	18.834	0.92121	907	0.22727	BTB/Kelch-associated|BTB/Kelch-associated;BTB/Kelch-associated|BTB/Kelch-associated	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	1754.69	104	chr13	69882456	.	G	A	1754.69	.	AC=10;AF=0.5;AN=20;BaseQRankSum=-1.531;DP=1331;ExcessHet=22.563;FS=222.247;InbreedingCoeff=-0.9152;MLEAC=10;MLEAF=0.5;MQ=60;MQRankSum=0;QD=1.44;ReadPosRankSum=0.573;SOR=12.405	GT:AD:DP:GQ:PL	0/1:71,25:104:1:1,0,1226	0	0	10	0
chr13	95989982	95989982	C	T	exonic	UGGT2	.	nonsynonymous SNV	UGGT2:NM_020121:exon8:c.G922A:p.E308K	.	481	1038	3	0	0	3	0.001443	.	.	.	2341572	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.360	0.077761313079	0.0002	.	0.0002	0	0.0002	0	0	0.0003	0	0.0001	0.000207	32	154602	rs144698764	0.0005	0.0005	0.0005	0.0004	0.0017	0.0004	0.0004	0.0009	0.0007	3.016e-05	9.134e-05	7.746e-05	0	3.804e-05	0.0017	0.0005	0.0004	0.0003	0.0003	0.0003	0.0003	0.0003	0.0006	0.0002	0.0002	0.0003	0.0002	0.0002	0	6.551e-05	0.0003	0	0	0.0068	0.0004	0	0.0006	0.005	0.65419	D	0.009	0.66756	D	0.997	0.90584	D	0.926	0.92359	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.2	0.89116	M	1.49	0.31470	T	-2.2	0.52451	N	0.637	0.72656	-0.3469	0.73643	T	0.282	0.65428	T	10	0.454093	0.58880	T	0.077761	0.72846	D	0.360	0.68052	.	.	0.407357902709	0.40350	0.7285501058951237	0.72799	0.375299811977	0.38983	0.619002223015	0.55588	T	0.014376	0.12250	T	-0.13135	0.31277	T	-0.0859029	0.64468	T	0.303142368793488	0.25133	T	0.855914	0.54393	D	0.54341054	0.69587	0.43556666	0.67038	0.54341054	0.69589	0.43556666	0.67038	-6.845	0.52893	T	.	.	0.466	0.65332	A	.;.	.;.	4.723857	0.76021	26.4	0.998889672635492	0.96359	0.94734	0.62146	D	AEFGI	0.620370	0.60546	D	0.839567151726641	0.88505	9.604193	0.772847654419577	0.87852	9.367107	0.99996777055068	0.48965	0.706298	0.61202	0	0.633656	0.55848	0	0.658983	0.55881	0	0.613276	0.41899	0	.	.	5.48	5.48	0.80675	2.015000	0.40581	.	.	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.989000	0.64315	0.0:1.0:0.0:0.0	18.485	0.90774	940	0.13648	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.05	1577.43	123	chr13	95989982	.	C	T	1577.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.425;DP=426;ExcessHet=0;FS=3.32;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.82;ReadPosRankSum=-0.336;SOR=0.439	GT:AD:DP:GQ:PL	0/1:61,62:123:99:1589,0,1697	9	0	1	0
chr13	101598192	101598192	C	T	exonic	ITGBL1	.	nonsynonymous SNV	ITGBL1:NM_001271754:exon6:c.C485T:p.A162V,ITGBL1:NM_001271755:exon6:c.C761T:p.A254V,ITGBL1:NM_001271756:exon6:c.C629T:p.A210V,ITGBL1:NM_004791:exon7:c.C908T:p.A303V	.	434	1086	2	0	0	2	0.000919963	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.227	0.014174158725	0.0010	.	0.0018	0.0002	0.0005	0	0.0035	0.0028	0	6.062e-05	0.0016494	255	154602	rs150262172	0.0018	0.0018	0.0018	0.0019	0.0019	0.0018	0.0018	0.0018	0.0018	0.0001	0.0009	0.0096	0	0.0040	0	0.0019	0.0022	3.479e-05	0.0015	0.0015	0.0017	0.0014	0.0025	0.0014	0.0013	0.0019	0.0016	0.0002	0	0.0025	0.0084	0	0.0021	0	0.0020	0.0014	0	0.237	0.18562	T	0.258	0.23164	T	0.0	0.02946	B	0.005	0.11217	B	0.002957	0.35672	N	0.322570	0.999967	0.19486	N	1.1	0.28011	L	-3.82	0.95761	D	-1.91	0.53736	N	0.228	0.25622	-0.2010	0.77645	T	0.692	0.89382	D	10	0.00923425	0.00209	T	0.014174	0.34105	T	0.227	0.52620	.	.	0.300784259202	0.29686	0.14540770565945174	0.14463	0.199258263272	0.22323	0.263066351414	0.05260	T	0.033243	0.23326	T	-0.354397	0.04457	T	-0.286147	0.46172	T	0.00848285172660338	0.00103	T	0.781022	0.41604	T	0.056171395	0.11017	0.07214399	0.15532	0.056171395	0.11016	0.07214399	0.15531	-4.858	0.35259	T	.	.	0.071	0.06803	B	.;.;.;.;.	.;.;.;.;.	0.926174	0.13010	9.517	0.93760878446078055	0.23707	0.07863	0.13854	N	AEFGBI	0.052939	0.09495	N	-0.984979533264179	0.08923	0.4203153	-0.955637542929792	0.10792	0.5458765	0.996270559784449	0.34636	0.693126	0.56070	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.42	-0.424	0.11707	0.756000	0.26084	-0.738000	0.07632	-0.773000	0.03420	0.202000	0.24332	0.000000	0.08366	0.890000	0.42831	0.2028:0.3682:0.0:0.429	5.151	0.14337	951	0.11083	EGF-like domain, extracellular|EGF-like domain;EGF-like domain, extracellular|EGF-like domain;EGF-like domain, extracellular|EGF-like domain;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.05	1090.43	89	chr13	101598192	.	C	T	1090.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.166;DP=456;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.25;ReadPosRankSum=-1.081;SOR=0.644	GT:AD:DP:GQ:PL	0/1:42,47:89:99:1102,0,1079	9	0	1	0
chr13	102690880	102690880	C	G	exonic	METTL21C	.	nonsynonymous SNV	METTL21C:NM_001010977:exon2:c.G215C:p.R72P	.	430	1039	51	2	0	55	0.0257853	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.047	.	0.0071	0.00359425	0.0100	0.0012	0.0016	0.0001	0.0204	0.0113	0.0165	0.0170	0.0094501	1461	154602	rs149948690	0.0092	0.0092	0.0088	0.0096	0.0190	0.0091	0.0090	0.0182	0.0179	0.0014	0.0020	0.0036	2.519e-05	0.0190	0.0147	0.0090	0.0089	0.0190	0.0065	0.0065	0.0061	0.0070	0.0155	0.0062	0.0061	0.0127	0.0117	0.0018	0.0187	0.0021	0.0040	0	0.0158	0.0068	0.0089	0.0043	0.0155	0.197	0.20607	T	0.197	0.27855	T	0.431	0.35606	B	0.071	0.27960	B	0.025462	0.01631	N	1.963520	1	0.08975	N	1.04	0.26193	L	2.51	0.14284	T	-1.77	0.41809	N	0.291	0.32921	-1.0349	0.18888	T	0.013	0.04843	T	10	0.0050058663	0.00108	T	.	.	.	0.047	0.12962	.	.	.	.	0.7297983950850847	0.72924	0.113194095826	0.12776	0.194922536612	0.00325	T	0.021721	0.16866	T	-0.693516	0.00040	T	-0.754684	0.03307	T	0.00500844983931811	0.00054	T	0.493251	0.15238	T	0.81374246	0.84801	0.3472523	0.60382	0.81374246	0.84803	0.3472523	0.60381	-7.212	0.55568	T	.	.	0.344	0.56185	A	.	.	0.401928	0.07729	4.411	0.94050410969188059	0.24177	0.07920	0.13907	N	AEFBCI	0.143530	0.26625	N	-1.06908644187949	0.07219	0.3346629	-1.10916156895534	0.07524	0.3663372	0.999367551965747	0.39301	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	6.16	-4.69	0.03061	-1.033000	0.03682	-2.694000	0.03459	-0.202000	0.08738	0.000000	0.06391	0.000000	0.08366	0.973000	0.55318	0.1814:0.4624:0.0807:0.2755	3.606	0.07586	942	0.12992	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.010574	0.010101	0.001359	0.011696	0.000000	0.000000	0.021341	0.022727	0.05	2260.43	233	chr13	102690880	.	C	G	2260.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.691;DP=548;ExcessHet=0;FS=7.282;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.7;ReadPosRankSum=-0.008;SOR=0.471	GT:AD:DP:GQ:PL	0/1:129,104:233:99:2272,0,2900	9	0	1	0
chr13	102737670	102737670	C	G	exonic	CCDC168	.	nonsynonymous SNV	CCDC168:NM_001146197:exon4:c.G13027C:p.V4343L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.296e-05	0.0009	1.28e-05	1.313e-05	3.19e-05	8.1e-06	6.68e-06	9.68e-06	7.91e-06	3.19e-05	0	0	0	0	0	1.589e-05	0	0	6.741e-06	1.989e-05	0	1.384e-05	1.492e-05	0	0	.	.	0	0	0	0	0	0	0	1.492e-05	0	0	.	.	.	0.044	0.49663	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.155	0.16028	.	.	.	.	.	.	.	0.08621222	0.14631	T	.	.	.	.	.	.	.	0.0806252709748	0.07271	0.08298472189106709	0.08233	.	.	0.344727694988	0.17142	T	.	.	.	-0.118802	0.33320	T	-0.408427	0.32407	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.211	0.43882	B	.	.	-0.018962	0.04151	0.996	0.36670154075650313	0.02372	0.03259	0.08291	N	AEFBI	.	.	.	.	.	.	.	.	.	0.929394545130418	0.26967	0.06567	0.01388	0	0.059962	0.00310	0	0.063197	0.01477	0	0.075334	0.01956	0	0.0516762	0.10602	2.37	-0.837	0.10221	0.258000	0.18156	-2.744000	0.03406	0.581000	0.30040	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.0:0.4159:0.0:0.5841	5.246	0.14815	952	0.10565	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.25	492.36	185	chr13	102737670	.	C	G	492.36	.	AC=3;AF=0.25;AN=12;BaseQRankSum=-5.067;DP=1484;ExcessHet=0.7463;FS=269.879;InbreedingCoeff=-0.3415;MLEAC=4;MLEAF=0.333;MQ=59.99;MQRankSum=0;QD=1.03;ReadPosRankSum=1.97;SOR=10.375	GT:AD:DP:GQ:PL	0/1:133,41:185:99:111,0,2857	3	0	3	4
chr13	102738219	102738219	C	G	exonic	CCDC168	.	nonsynonymous SNV	CCDC168:NM_001146197:exon4:c.G12478C:p.V4160L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.167e-05	0.0022	6.326e-05	3.979e-05	6.248e-05	4.177e-05	3.835e-05	5.038e-05	4.595e-05	0	2.807e-05	0	0	0	0	6.248e-05	3.499e-05	2.541e-05	1.334e-05	2.64e-05	1.303e-05	1.368e-05	1.486e-05	2.22e-06	8.3e-07	.	.	0	0	0	0	0	9.686e-05	0	1.486e-05	0	0	.	.	.	0.068	0.44106	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.18	0.19459	.	.	.	.	.	.	.	0.09865704	0.17852	T	.	.	.	.	.	.	.	0.0806252709748	0.07271	0.022759760475440007	0.02227	.	.	0.381038725376	0.22403	T	.	.	.	-0.129836	0.31521	T	-0.424277	0.30586	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.349	0.56507	A	.	.	0.179806	0.05674	2.123	0.42346026630768363	0.03115	0.07449	0.13466	N	AEFBI	.	.	.	.	.	.	.	.	.	0.921212253802681	0.26663	0.06567	0.01388	0	0.059962	0.00310	0	0.063197	0.01477	0	0.075334	0.01956	0	0.0512898	0.10407	3.08	0.322	0.15131	1.882000	0.39283	-0.398000	0.09429	0.454000	0.21428	0.029000	0.20367	0.000000	0.08366	0.017000	0.10941	0.0:0.5804:0.0:0.4196	5.169	0.14429	951	0.11083	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1667	184.94	208	chr13	102738219	.	C	G	184.94	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-4.991;DP=1624;ExcessHet=0.2348;FS=285.28;InbreedingCoeff=-0.25;MLEAC=3;MLEAF=0.25;MQ=60;MQRankSum=0;QD=0.47;ReadPosRankSum=2.32;SOR=10.656	GT:AD:DP:GQ:PL	0/1:145,48:208:37:37,0,3377	4	0	2	4
chr13	102742972	102742972	-	T	exonic	CCDC168	.	frameshift insertion	CCDC168:NM_001146197:exon4:c.7724dupA:p.N2575Kfs*20	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001	0.0005	0	0	0	0	0	0.0001	0.0002689	7	26028	rs756634631	4.465e-05	4.583e-05	4.258e-05	4.677e-05	0.0004	3.554e-05	3.226e-05	6.22e-05	3.488e-05	3.26e-05	2.977e-05	0	2.807e-05	0	0.0004	4.932e-05	0	5.158e-05	3.956e-05	3.942e-05	2.579e-05	5.396e-05	0.0002	1.72e-05	1.133e-05	1.977e-05	1.128e-05	2.415e-05	0	0	0	0.0002	0	0	5.9e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	1291.39	122	chr13	102742972	.	G	GT	1291.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.752;DP=1016;ExcessHet=0;FS=2.321;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.59;ReadPosRankSum=1.92;SOR=0.509	GT:AD:DP:GQ:PL	0/1:67,55:122:99:1303,0,1673	9	0	1	0
chr13	102743139	102743139	G	C	exonic	CCDC168	.	nonsynonymous SNV	CCDC168:NM_001146197:exon4:c.C7558G:p.L2520V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1241466537	2.86e-06	2.736e-06	4.233e-06	1.45e-06	0.0001	6.7e-07	4.5e-07	3.809e-05	2.257e-05	0	0	0	0.0001	0	0	0	0	0	6.582e-06	6.569e-06	0	1.347e-05	0.0002	0	0	.	.	0	0	0	0	0.0002	0	0	0	0	0	.	.	.	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.151	0.15469	.	.	.	.	.	.	.	0.053364754	0.05516	T	.	.	.	.	.	.	.	0.0806252709748	0.07271	0.025784513111167806	0.02529	.	.	0.219660788774	0.01290	T	.	.	.	-0.38673	0.02823	T	-0.492963	0.23080	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.105	0.19276	B	.	.	-0.387249	0.02261	0.233	0.50264816979790827	0.04354	0.00952	0.03663	N	AEFGBI	.	.	.	.	.	.	.	.	.	0.999151899302783	0.38592	0.06567	0.01388	0	0.059962	0.00310	0	0.063197	0.01477	0	0.075334	0.01956	0	0.0534285	0.11854	3.52	-5.53	0.02351	-1.612000	0.02163	-2.368000	0.03842	0.676000	0.76740	0.000000	0.06391	0.000000	0.08366	0.083000	0.17415	0.3409:0.0:0.2274:0.4317	3.309	0.06598	943	0.12886	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	2844.43	265	chr13	102743139	.	G	C	2844.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.347;DP=1147;ExcessHet=0;FS=4.144;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.73;ReadPosRankSum=0.817;SOR=0.499	GT:AD:DP:GQ:PL	0/1:155,110:265:99:2856,0,4299	9	0	1	0
chr13	110457135	110457135	-	C	exonic	COL4A2-AS2	.	frameshift insertion	COL4A2-AS2:NM_001267044:exon5:c.589dupG:p.D197Gfs*177	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00319489	0.0001	0	0.0062	0	0	0	0	0	0.0003074	8	26028	rs540909253	0.0142	0.0066	0.0140	0.0145	0.0188	0.0139	0.0137	0.0182	0.0179	0.0041	0.0034	0.0075	0.0010	0.0079	0.0080	0.0188	0.0123	0.0180	0.0025	0.0031	0.0030	0.0020	0.0034	0.0021	0.0020	0.0028	0.0025	0.0014	0.0106	0.0020	0.0021	0.0011	0.0006	0	0.0034	0.0116	0.0021	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05556	228.04	18	chr13	110457135	.	T	TC	228.04	.	AC=1;AF=0.056;AN=18;BaseQRankSum=0.805;DP=349;ExcessHet=0;FS=1.958;MLEAC=1;MLEAF=0.056;MQ=44.74;MQRankSum=-2.754;QD=12.67;ReadPosRankSum=2.86;SOR=1.371	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:11,7:18:99:0|1:110457135_T_TC:239,0,236:110457135	8	0	1	1
chr13	110457177	110457177	C	-	exonic	COL4A2-AS2	.	frameshift deletion	COL4A2-AS2:NM_001267044:exon5:c.548delG:p.G183Dfs*67	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	0.0001	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05556	32.81	7	chr13	110457176	.	TC	T	32.81	.	AC=1;AF=0.056;AN=18;DP=330;ExcessHet=0;FS=0;InbreedingCoeff=-0.0815;MLEAC=1;MLEAF=0.056;MQ=44.05;QD=4.69;SOR=0.223	GT:AD:DP:GQ:PL	0/1:7,0:7:44:44,0,337	8	0	1	1
chr13	110457193	110457193	C	G	exonic	COL4A2-AS2	.	nonsynonymous SNV	COL4A2-AS2:NM_001267044:exon5:c.G532C:p.G178R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.016	.	.	.	0	0	0	0	0	0	0	0	0.0001164	18	154602	rs9588171	0.0001	0.0012	6.902e-05	0.0002	0.0003	8.574e-05	7.405e-05	0.0001	0.0001	0	5.633e-05	0	0	0	0	0.0001	8.924e-05	0.0003	7.003e-05	6.326e-05	0.0001	0	0.0002	1.857e-05	1.015e-05	1.751e-05	7.17e-06	0	0	0.0002	0	0	0	0	9.99e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	55.89	1	chr13	110457193	.	C	G	55.89	.	AC=1;AF=0.083;AN=12;DP=334;ExcessHet=0;FS=0;InbreedingCoeff=-0.1774;MLEAC=1;MLEAF=0.083;MQ=44.42;QD=32.71;SOR=0.223	GT:AD:DP:GQ:PL	0/1:1,0:1:32:267,0,32	5	0	1	4
chr14	19414591	19414591	G	A	exonic	POTEG	.	nonsynonymous SNV	POTEG:NM_001005356:exon8:c.C1213T:p.P405S	.	470	1049	3	0	0	3	0.00142789	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.061	0.00136225375805	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs146788089	0.0027	0.0054	0.0027	0.0027	0.0032	0.0027	0.0026	0.0031	0.0031	0.0005	0.0022	0.0001	0	0.0006	0.0018	0.0032	0.0027	0.0014	0.0039	0.0051	0.0042	0.0037	0.0057	0.0037	0.0036	0.0053	0.0051	0.0011	0.0681	0.0052	0.0009	0	0.0004	0	0.0057	0.0049	0.0018	0.011	0.55530	D	0.079	0.42086	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.71	0.26737	T	-1.73	0.41046	N	0.263	0.29774	-1.0239	0.22443	T	0.039	0.16849	T	8	0.0035389364	0.00063	T	0.001362	0.01961	T	.	.	0.236	0.16608	0.082315109003	0.07666	0.023966502454425245	0.02347	.	.	0.677637338638	0.63930	T	0.007793	0.07174	T	-0.235678	0.15904	T	-0.576311	0.14875	T	0.190607070922852	0.19880	T	0.736326	0.35288	T	0.051223096	0.09374	0.11778921	0.28435	0.051223096	0.09373	0.11778921	0.28434	-2.861	0.08759	T	.	.	0.099	0.16886	B	.	.	1.459785	0.18824	13.94	0.68941343562856472	0.08815	0.00628	0.02764	N	AEFI	0.023113	0.01244	N	-0.885206082346872	0.11194	0.5388793	-1.02695800044151	0.09195	0.4560843	1.96308778356445E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.993	0.993	0.18943	0.251000	0.18025	-4.069000	0.02360	0.318000	0.19305	0.081000	0.22364	0.000000	0.08366	0.031000	0.13245	0.0:0.0:1.0:0.0	5.373	0.15451	994	0.00715	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05556	2852.08	304	chr14	19414591	.	G	A	2852.08	.	AC=1;AF=0.056;AN=18;BaseQRankSum=1.25;DP=581;ExcessHet=0;FS=0.426;MLEAC=1;MLEAF=0.056;MQ=40.49;MQRankSum=-7.372;QD=9.38;ReadPosRankSum=0.58;SOR=0.658	GT:AD:DP:GQ:PL	0/1:171,133:304:99:2863,0,3869	8	0	1	1
chr14	24048199	24048199	C	T	exonic	DHRS4	.	unknown	UNKNOWN	.	427	1094	1	0	0	1	0.00045683	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.059	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.935e-07	6.84e-07	1.38e-06	0	2.588e-05	0	0	.	.	0	0	0	2.588e-05	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1845.43	140	chr14	24048199	.	C	T	1845.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.453;DP=458;ExcessHet=0;FS=2.121;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.18;ReadPosRankSum=-2.45;SOR=0.889	GT:AD:DP:GQ:PL	0/1:72,68:140:99:1857,0,2014	9	0	1	0
chr14	24050918	24050918	C	A	exonic	DHRS4;DHRS4L1	.	nonsynonymous SNV	DHRS4L1:NM_001277864:exon5:c.C403A:p.L135I	.	420	1100	2	0	0	2	0.000908265	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.089	.	0.0002	0.000199681	0.0003	0.0002	0.0015	0.0005	0	0.0002	0	0.0002	0.0003169	49	154602	rs2759413	0.0002	0.0002	0.0002	0.0002	0.0009	0.0002	0.0001	0.0006	0.0005	0.0001	0.0008	0	0.0005	0	0.0009	0.0001	0.0003	0.0003	0.0002	0.0002	0.0001	0.0002	0.0004	0.0001	9.694e-05	0.0001	8.876e-05	0.0001	0	0.0003	0	0	0	0	0.0002	0	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1	5487.14	224	chr14	24050918	.	C	A	5487.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=2.71;DP=1041;ExcessHet=0.2348;FS=0;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=58.64;MQRankSum=-4.16;QD=11.75;ReadPosRankSum=-0.666;SOR=0.709	GT:AD:DP:GQ:PL	0/1:125,99:224:99:2597,0,3194	8	0	2	0
chr14	24050936	24050936	A	G	exonic	DHRS4;DHRS4L1	.	nonsynonymous SNV	DHRS4L1:NM_001277864:exon5:c.A421G:p.M141V	.	421	1099	2	0	0	2	0.000909091	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.058	.	0.0003	.	0.0002	0.0002	8.663e-05	0	0	0.0001	0	0.0009	0.0001746	27	154602	rs201276410	0.0002	0.0002	0.0001	0.0002	0.0008	0.0001	0.0001	0.0007	0.0006	0.0005	4.49e-05	0	2.526e-05	1.88e-05	0	0.0001	0.0002	0.0008	0.0002	0.0002	0.0002	0.0002	0.0004	0.0001	0.0001	0.0002	0.0001	0.0003	0	0.0001	0	0	0	0	0.0002	0.0005	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1	4517.14	191	chr14	24050936	.	A	G	4517.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=3.08;DP=963;ExcessHet=0.2348;FS=0.39;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=58.05;MQRankSum=-4.803;QD=11.61;ReadPosRankSum=0.885;SOR=0.648	GT:AD:DP:GQ:PL	0/1:106,85:191:99:2214,0,3025	8	0	2	0
chr14	24149570	24149570	C	A	exonic	RNF31	.	nonsynonymous SNV	RNF31:NM_001310332:exon6:c.C343A:p.H115N,RNF31:NM_017999:exon6:c.C796A:p.H266N	.	433	1088	1	0	0	1	0.000459348	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.084	0.00655531646369	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.621	0.06067	T	0.878	0.10281	T	0.0	0.02946	B	0.0	0.01387	B	0.414412	0.04610	N	1.309680	1	0.08975	N	0.92	0.23413	L	1.05	0.39990	T	0.55	0.05810	N	0.111	0.22998	-1.0252	0.22017	T	0.059	0.24686	T	10	0.06604561	0.09000	T	0.006555	0.17272	T	0.084	0.24469	0.347	0.34274	0.244449712813	0.24043	0.20266360450272064	0.20183	0.252073141098	0.27777	0.294397741556	0.09568	T	0.00753	0.34196	T	-0.289613	0.09675	T	-0.653785	0.08691	T	0.0179717298597097	0.00522	T	.	.	.	0.023374422	0.01072	0.029758358	0.01349	0.023374422	0.01072	0.029758358	0.01349	-4.624	0.32472	T	.	.	0.071	0.06990	B	.;.;.	.;.;.	0.323424	0.06979	3.530	0.71044425411811074	0.09496	0.02876	0.07652	N	AEFBI	0.055604	0.10210	N	-1.05838494714626	0.07424	0.3448295	-1.03619927359785	0.08996	0.4452201	0.999588634556469	0.40607	0.706548	0.73137	0	0.672317	0.65289	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.91	0.041	0.13529	0.015000	0.13250	0.549000	0.19403	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.235000	0.22869	0.6337:0.2868:0.0:0.0795	8.964	0.35026	894	0.26265	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1	2137.14	98	chr14	24149570	.	C	A	2137.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-0.253;DP=483;ExcessHet=0.2348;FS=1.175;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=11.19;ReadPosRankSum=1.42;SOR=0.568	GT:AD:DP:GQ:PL	0/1:60,38:98:99:921,0,1719	8	0	2	0
chr14	24300437	24300437	G	C	exonic	NOP9	.	nonsynonymous SNV	NOP9:NM_001286367:exon2:c.G277C:p.V93L,NOP9:NM_174913:exon2:c.G277C:p.V93L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.054	0.00576105487957	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0003	0.0050	0.0003	0.0003	0.0004	0.0003	0.0003	0.0004	0.0003	0.0002	2.243e-05	0.0001	0	0	0.0002	0.0004	0.0003	7.042e-05	1.319e-05	5.919e-05	1.29e-05	1.35e-05	0.0002	2.19e-06	8.2e-07	.	.	0	0	0	0	0	0	0	1.474e-05	0	0.0002	0.197	0.23183	T	0.214	0.26386	T	0.008	0.14655	B	0.009	0.14300	B	0.000069	0.52346	D	0.072968	0.996321	0.43140	D	2.585	0.75554	M	2.67	0.12473	T	-0.93	0.24898	N	0.223	0.25006	-1.0617	0.11336	T	0.026	0.11220	T	10	0.2473082	0.42010	T	0.005761	0.14952	T	0.054	0.15330	0.682	0.81982	0.280181792013	0.27631	0.43155452972977676	0.43072	0.241845707043	0.26701	0.518697142601	0.41442	T	0.026513	0.19606	T	-0.1628	0.26331	T	-0.471627	0.25341	T	0.867119252681732	0.51714	D	.	.	.	0.2700367	0.50075	0.25238276	0.50866	0.2700367	0.50075	0.25238276	0.50865	-4.398	0.29530	T	.	.	0.406	0.62127	A	.;.	.;.	3.392337	0.46977	22.4	0.98957409412611974	0.49266	0.70411	0.34579	D	AEFDGBHCI	0.404589	0.47781	N	-0.158710929101413	0.34866	1.995547	0.0346132377272474	0.41334	2.481569	0.99999908900984	0.74766	0.766844	0.99359	0	0.672317	0.65289	0	0.851219	0.99655	0	0.638787	0.57140	0	.	.	5.05	4.09	0.47038	3.594000	0.53755	8.281000	0.76903	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:0.8459:0.1541	14.766	0.69261	867	0.32089	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3125	404.66	126	chr14	24300437	.	G	C	404.66	.	AC=5;AF=0.313;AN=16;BaseQRankSum=-4.58;DP=1123;ExcessHet=2.8389;FS=300.645;InbreedingCoeff=-0.4294;MLEAC=6;MLEAF=0.375;MQ=60;MQRankSum=0;QD=0.63;ReadPosRankSum=1.59;SOR=10.2	GT:AD:DP:GQ:PL	0/1:97,29:126:44:44,0,2592	3	0	5	2
chr14	24332541	24332541	C	T	exonic	ADCY4	.	nonsynonymous SNV	ADCY4:NM_001198568:exon3:c.G500A:p.R167Q,ADCY4:NM_001198592:exon4:c.G500A:p.R167Q,ADCY4:NM_139247:exon4:c.G500A:p.R167Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.108	0.037277965866	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1447016026	4.937e-06	8.209e-06	6.976e-06	2.852e-06	6.423e-06	2.05e-06	1.32e-06	2.67e-06	1.72e-06	0	0	0	0	0	0	6.423e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.639	0.05017	T	0.716	0.05416	T	0.0	0.02946	B	0.001	0.04355	B	0.467241	0.12321	N	0.646993	1	0.19072	N	0.065	0.08236	N	-0.96	0.75553	T	-0.3	0.23156	N	0.131	0.15046	-1.0020	0.29342	T	0.135	0.44875	T	10	0.048568368	0.04325	T	0.037278	0.57516	D	0.108	0.30607	0.414	0.45216	0.670132254285	0.66734	0.23812938894918	0.23726	0.37491474956	0.38949	0.31044319272	0.11973	T	0.202058	0.56012	T	-0.188666	0.22454	T	-0.508782	0.21441	T	0.125031247735023	0.14915	T	.	.	.	0.019070987	0.00433	0.020233147	0.00125	0.019070987	0.00432	0.020233147	0.00125	-4.376	0.29230	T	.	.	0.073	0.04640	B	.;.;.;.	.;.;.;.	1.860289	0.23633	16.09	0.97435813520352332	0.33951	0.08882	0.14743	N	ALL	0.058908	0.11086	N	-1.1553121147527	0.05693	0.2601975	-1.12852969905383	0.07159	0.3471963	0.999999998517661	0.74766	0.751926	0.98777	0	0.552344	0.17405	0	0.503968	0.08637	0	0.683672	0.66515	0	.	.	5.31	-1.73	0.07646	-0.028000	0.12299	-2.781000	0.03368	0.587000	0.30956	0.000000	0.06391	0.000000	0.08366	0.917000	0.45243	0.1263:0.3725:0.0:0.5012	6.035	0.18930	856	0.34373	Adenylate cyclase, N-terminal;Adenylate cyclase, N-terminal;Adenylate cyclase, N-terminal;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	1335.43	87	chr14	24332541	.	C	T	1335.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.51;DP=498;ExcessHet=0;FS=0.819;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=15.35;ReadPosRankSum=0.154;SOR=0.885	GT:AD:DP:GQ:PL	0/1:39,48:87:99:1347,0,951	9	0	1	0
chr14	44504934	44504934	A	G	exonic	FSCB	.	nonsynonymous SNV	FSCB:NM_032135:exon1:c.T2054C:p.L685P	.	424	1095	3	0	0	3	0.00136799	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.019	.	0.0108	0.0255591	0.0061	0.0671	0.0032	0	0	0.0003	0.0011	0.0004	0.0056144	868	154602	rs8008803	0.0003	0.0003	0.0003	0.0002	0.0096	0.0003	0.0002	0.0087	0.0083	0.0096	0.0008	0	2.519e-05	0	0.0014	1.169e-05	0.0008	9.284e-05	0.0091	0.0092	0.0096	0.0085	0.0321	0.0087	0.0085	0.0306	0.0301	0.0321	0	0.0044	0	0	0	0.0035	0.0002	0.0077	0.0002	0.142	0.25457	T	0.283	0.21478	T	0.0	0.02946	B	0.001	0.04355	B	.	.	.	.	1	0.08975	N	-0.69	0.01958	N	2.69	0.12268	T	1.12	0.01197	N	0.038	0.01203	-0.9414	0.42394	T	0.002	0.00556	T	9	0.0028251708	0.00045	T	.	.	.	0.019	0.03383	.	.	0.0401082797425	0.02173	0.02732859035036624	0.02682	0.0141039558421	0.01346	0.280728876591	0.07593	T	6.5E-4	0.00285	T	-0.781243	0.00011	T	-0.873348	0.00712	T	0.00985670617385135	0.00130	T	0.223178	0.02888	T	0.043087162	0.06653	0.092899606	0.21915	0.043087162	0.06652	0.092899606	0.21914	-1.485	0.01734	T	.	.	0.058	0.00636	B	.	.	-0.764750	0.01179	0.057	0.60604691924468235	0.06504	0.00061	0.00447	N	AEFI	0.025746	0.01815	N	-1.56568496102207	0.01445	0.06304069	-1.57578094942116	0.01804	0.08214708	9.30797760855103E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.69	-4.08	0.03696	-0.473000	0.06694	-20.000000	0.00162	-2.282000	0.00327	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.7051:0.0:0.2949:0.0	12.498	0.55282	948	0.11499	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.016616	0.015152	0.032609	0.017544	0.000000	0.008621	0.000000	0.000000	0.05	1461.43	81	chr14	44504934	.	A	G	1461.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.171;DP=727;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=59.33;MQRankSum=-1.45;QD=18.04;ReadPosRankSum=1.1;SOR=0.677	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:42,39:81:99:0|1:44504934_A_G:1473,0,1617:44504934	9	0	1	0
chr14	44504938	44504938	A	G	exonic	FSCB	.	nonsynonymous SNV	FSCB:NM_032135:exon1:c.T2050C:p.S684P	.	425	1095	2	0	0	2	0.000912409	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.026	.	0.0108	0.0255591	0.0061	0.0672	0.0032	0.0001	0	0.0003	0.0011	0.0004	0.0056209	869	154602	rs8008805	0.0003	0.0003	0.0003	0.0002	0.0096	0.0002	0.0002	0.0087	0.0083	0.0096	0.0008	0	2.519e-05	0	0.0014	1.169e-05	0.0008	9.284e-05	0.0090	0.0093	0.0096	0.0084	0.0321	0.0086	0.0085	0.0306	0.0300	0.0321	0	0.0044	0	0	0	0.0035	0.0002	0.0072	0.0002	0.266	0.16251	T	0.209	0.26798	T	0.001	0.07471	B	0.006	0.12133	B	.	.	.	.	1	0.08975	N	0.475	0.13142	N	2.51	0.14284	T	-0.51	0.15986	N	0.022	0.00372	-0.9601	0.39162	T	0.002	0.00738	T	9	0.002448231	0.00037	T	.	.	.	0.026	0.05648	.	.	0.0138822411134	0.00435	0.030634685220179425	0.03012	0.0137362579172	0.01312	0.324154227972	0.14049	T	0.004258	0.03670	T	-0.793024	0.00009	T	-0.892976	0.00553	T	0.00113477713204514	0.00011	T	0.315368	0.06236	T	0.044857595	0.07242	0.050050046	0.07775	0.044857595	0.07242	0.050050046	0.07774	-1.787	0.02470	T	.	.	0.084	0.09530	B	.	.	-1.477364	0.00309	0.005	0.50773073315649619	0.04443	0.00498	0.02351	N	AEFI	0.034835	0.04386	N	-1.61020402892252	0.01214	0.05280329	-1.70666434052638	0.01108	0.04980591	2.60964402859101E-4	0.06190	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.69	-6.13	0.01937	-3.130000	0.00652	-20.000000	0.00162	-1.714000	0.00739	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.4531:0.207:0.236:0.1039	2.312	0.03934	948	0.11499	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.016616	0.015152	0.031250	0.020468	0.000000	0.008621	0.000000	0.000000	0.05	1464.43	80	chr14	44504938	.	A	G	1464.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.15;DP=724;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=59.3;MQRankSum=-1.422;QD=18.31;ReadPosRankSum=-0.036;SOR=0.715	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:41,39:80:99:0|1:44504934_A_G:1476,0,1582:44504934	9	0	1	0
chr14	45175794	45175794	G	T	exonic	FANCM	.	nonsynonymous SNV	FANCM:NM_001308133:exon13:c.G2962T:p.G988C,FANCM:NM_020937:exon14:c.G3040T:p.G1014C	.	0	1518	4	0	0	4	0.00131579	.	.	.	241837	FANCM-related_disorder|not_provided|Fanconi_anemia|not_specified	.|MedGen:C3661900|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650,Orphanet:84|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.030	.	0.0037	0.00499201	0.0014	0.0156	0.0006	0	0	0	0	6.061e-05	0.001313	203	154602	rs77532752	0.0004	0.0004	0.0005	0.0003	0.0149	0.0004	0.0004	0.0138	0.0134	0.0149	0.0008	0	0	0	0.0005	2.698e-06	0.0009	4.638e-05	0.0037	0.0037	0.0038	0.0037	0.0129	0.0035	0.0034	0.0120	0.0117	0.0129	0	0.0012	0	0	0	0.0034	2.942e-05	0.0028	0.0002	0.061	0.37326	T	0.116	0.36901	T	0.001	0.07471	B	0.003	0.08700	B	0.026000	0.01641	N	1.940980	1	0.08975	N	0.55	0.14455	N	2.76	0.18875	T	-2.11	0.50175	N	0.136	0.28849	-1.0210	0.23389	T	0.014	0.05705	T	10	0.0043438375	0.00088	T	.	.	.	0.030	0.07022	.	.	0.397838977388	0.39401	0.41709074337779184	0.41625	0.0920060912428	0.10386	0.226987525821	0.01753	T	0.252386	0.62277	T	-0.654553	0.00068	T	-0.700672	0.05789	T	0.000781367293533466	0.00007	T	0.572443	0.21465	T	0.1622571	0.36289	0.076701425	0.17015	0.12618388	0.29562	0.11162583	0.26927	-4.481	0.31149	T	.	.	0.109	0.32756	B	.;.;.	.;.;.	0.113837	0.05128	1.654	0.56016743423962478	0.05463	0.02756	0.07444	N	AEFBI	0.048297	0.08225	N	-1.14097014127243	0.05930	0.271651	-1.1815223663894	0.06218	0.2986347	0.0384491583654429	0.14347	0.615465	0.37627	0	0.588066	0.40923	0	0.602189	0.34648	0	0.655142	0.61905	0	.	.	4.76	-0.457	0.11578	0.098000	0.15027	0.200000	0.15841	-0.202000	0.08738	0.000000	0.06391	0.002000	0.18203	0.007000	0.07825	0.4254:0.0:0.4293:0.1454	4.677	0.12101	820	0.40914	.;.;.	.	.	.	.	.	Likely benign	0	0	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	0.001007	0.000000	0.002717	0.000000	0.000000	0.000000	0.000000	0.000000	0.05	2092.43	138	chr14	45175794	.	G	T	2092.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.55;DP=476;ExcessHet=0;FS=3.016;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=15.16;ReadPosRankSum=-0.177;SOR=0.486	GT:AD:DP:GQ:PL	0/1:67,71:138:99:2104,0,1740	9	0	1	0
chr14	45185264	45185264	A	C	exonic	FANCM	.	nonsynonymous SNV	FANCM:NM_001308133:exon17:c.A4485C:p.E1495D,FANCM:NM_020937:exon18:c.A4563C:p.E1521D	.	49	1471	2	0	0	2	0.000679348	.	.	.	241840	FANCM-related_disorder|Fanconi_anemia|not_provided|not_specified	.|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650,Orphanet:84|MedGen:C3661900|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.255	.	0.0036	0.00439297	0.0014	0.0153	0.0005	0	0	0	0	6.678e-05	0.0012225	189	154602	rs113986680	0.0004	0.0004	0.0005	0.0003	0.0142	0.0004	0.0004	0.0131	0.0127	0.0142	0.0007	0	0	0	0.0005	2.716e-06	0.0009	4.673e-05	0.0036	0.0036	0.0036	0.0035	0.0123	0.0033	0.0032	0.0115	0.0111	0.0123	0	0.0012	0	0	0	0.0034	2.94e-05	0.0028	0.0002	0.102	0.37118	T	0.29	0.27943	T	0.792	0.44688	P	0.138	0.33406	B	0.216383	0.16242	N	0.625780	0.980936	0.25076	N	2.205	0.62170	M	-1.23	0.78860	T	-1.4	0.34596	N	0.305	0.34444	-0.9452	0.41781	T	0.101	0.37443	T	10	0.007030189	0.00160	T	.	.	.	0.255	0.56562	0.153	0.05648	0.678621362334	0.67589	0.1002294309425725	0.09953	0.17011552983	0.19178	0.310345709324	0.11959	T	0.055681	0.30076	T	-0.472658	0.00818	T	-0.44004	0.28803	T	0.0265657143338258	0.01483	T	0.655934	0.26825	T	0.06486956	0.13805	0.060166523	0.11413	0.0624157	0.13032	0.06825543	0.14230	-2.159	0.03846	T	.	.	0.118	0.24088	B	.;.;.	.;.;.	1.203153	0.15953	12.22	0.99205258423628617	0.55412	0.73895	0.36144	D	ALL	0.151863	0.27643	N	-0.654461082751842	0.17330	0.8908613	-0.64812780459406	0.18263	0.9749047	0.999150595447767	0.38592	0.615465	0.37627	0	0.593476	0.48661	0	0.602189	0.34648	0	0.655142	0.61905	0	.	.	5.77	0.558	0.16454	0.087000	0.14801	0.750000	0.21229	-1.799000	0.00627	0.980000	0.35271	0.964000	0.29435	0.055000	0.15596	0.6063:0.0:0.2751:0.1186	5.418	0.15681	829	0.39537	.;.;.	.	.	.	.	.	Likely benign	0	0	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	0.001007	0.000000	0.002717	0.000000	0.000000	0.000000	0.000000	0.000000	0.05	1039.43	98	chr14	45185264	.	A	C	1039.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.441;DP=425;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.61;ReadPosRankSum=1.13;SOR=0.722	GT:AD:DP:GQ:PL	0/1:51,47:98:99:1051,0,1197	9	0	1	0
chr14	45242249	45242249	T	C	exonic	MIS18BP1	.	nonsynonymous SNV	MIS18BP1:NM_018353:exon4:c.A928G:p.T310A	.	428	1092	2	0	0	2	0.000914913	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.048	.	0.0063	0.00658946	0.0019	0.0205	0.0010	0	0	7.494e-05	0.0011	0	0.0017982	278	154602	rs144583290	0.0006	0.0006	0.0007	0.0005	0.0202	0.0006	0.0006	0.0189	0.0184	0.0202	0.0011	0	0	0	0.0010	7.734e-05	0.0012	1.159e-05	0.0061	0.0061	0.0064	0.0057	0.0211	0.0057	0.0056	0.0200	0.0195	0.0211	0	0.0020	0	0	0	0	0.0001	0.0024	0	0.091	0.31834	T	0.562	0.92824	T	0.888	0.48822	P	0.453	0.46205	P	0.109768	0.19470	N	0.542996	0.99999	0.08975	N	2.19	0.61577	M	2.16	0.19166	T	-1.81	0.42575	N	0.126	0.11912	-1.0799	0.07368	T	0.007	0.02558	T	10	0.0039764047	0.00077	T	.	.	.	0.048	0.13305	.	.	0.262175524916	0.25828	0.20295870400023489	0.20212	0.0456225196555	0.04953	0.292002618313	0.09214	T	0.011446	0.28845	T	-0.544659	0.00314	T	-0.538221	0.18472	T	0.0126300657976355	0.00211	T	0.533947	0.17813	T	0.09391629	0.22068	0.06633201	0.13572	0.09391629	0.22068	0.06633201	0.13571	-3.596	0.17799	T	.	.	0.077	0.06525	B	.;.	.;.	1.198737	0.15906	12.19	0.907186494125649	0.19968	0.09305	0.15088	N	AEFDGBI	0.042229	0.06526	N	-0.258716688287355	0.30756	1.717981	-0.324056078924875	0.27323	1.515366	0.99999820536718	0.74766	0.722319	0.85440	0	0.724815	0.89359	0	0.724815	0.87919	0	0.735409	0.98432	0	.	.	4.97	3.73	0.41982	1.267000	0.32653	0.210000	0.15951	0.609000	0.47794	0.725000	0.28872	0.940000	0.28757	0.123000	0.19290	0.0:0.0:0.2:0.8	8.319	0.31283	773	0.48803	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002014	0.005051	0.005435	0.000000	0.000000	0.000000	0.000000	0.000000	0.05	1703.43	150	chr14	45242249	.	T	C	1703.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.974;DP=483;ExcessHet=0;FS=4.862;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.36;ReadPosRankSum=-0.137;SOR=0.671	GT:AD:DP:GQ:PL	0/1:79,71:150:99:1715,0,2041	9	0	1	0
chr14	45247208	45247208	C	T	exonic	MIS18BP1	.	nonsynonymous SNV	MIS18BP1:NM_018353:exon2:c.G79A:p.D27N	.	433	1087	2	0	0	2	0.000919118	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.019	.	0.0063	0.00658946	0.0019	0.0205	0.0010	0	0	7.517e-05	0.0011	0	0.0017982	278	154602	rs144234035	0.0006	0.0006	0.0007	0.0005	0.0201	0.0006	0.0006	0.0189	0.0183	0.0201	0.0011	0	0	0	0.0010	0.0001	0.0012	1.162e-05	0.0061	0.0061	0.0064	0.0057	0.0211	0.0057	0.0056	0.0200	0.0195	0.0211	0	0.0021	0	0	0	0	0.0001	0.0024	0	0.369	0.12345	T	0.493	0.11443	T	0.01	0.15535	B	0.015	0.17295	B	0.145095	0.18157	N	0.534705	0.999901	0.19694	N	1.405	0.35469	L	2.26	0.17596	T	-0.99	0.42384	N	0.196	0.21580	-0.9812	0.34724	T	0.004	0.01435	T	10	0.0041268766	0.00081	T	.	.	.	0.019	0.03383	.	.	0.17948927462	0.17512	0.16439171013470744	0.16359	0.178628005492	0.20102	0.326647877693	0.14427	T	0.002778	0.11300	T	-0.598568	0.00149	T	-0.615658	0.11530	T	0.00710083137990544	0.00081	T	0.80292	0.44963	T	0.032299723	0.03230	0.023119323	0.00327	0.032299723	0.03230	0.023119323	0.00327	-3.554	0.17196	T	.	.	0.120	0.29697	B	.;.;.	.;.;.	1.893972	0.24054	16.25	0.9186328817594942	0.21177	0.15082	0.18735	N	AEFDGBI	0.043570	0.06903	N	-0.521648884560184	0.21380	1.134264	-0.388241780408804	0.25345	1.393339	0.99999867064547	0.74766	0.736574	0.97449	0	0.685571	0.66316	0	0.732669	0.93749	0	0.631631	0.49550	0	.	.	5.49	2.21	0.27042	1.370000	0.33843	4.087000	0.41779	0.549000	0.26987	0.844000	0.30348	1.000000	0.68203	0.708000	0.34389	0.0:0.429:0.448:0.123	7.824	0.28465	812	0.42537	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002014	0.005051	0.005435	0.000000	0.000000	0.000000	0.000000	0.000000	0.05	1522.43	111	chr14	45247208	.	C	T	1522.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.494;DP=423;ExcessHet=0;FS=3.486;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.72;ReadPosRankSum=0.555;SOR=0.555	GT:AD:DP:GQ:PL	0/1:53,58:111:99:1534,0,1376	9	0	1	0
chr14	49625711	49625711	T	C	exonic	DNAAF2	.	nonsynonymous SNV	DNAAF2:NM_001083908:exon2:c.A2201G:p.D734G,DNAAF2:NM_001378453:exon2:c.A134G:p.D45G,DNAAF2:NM_018139:exon3:c.A2345G:p.D782G	Ciliary dyskinesia, primary, 10	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.054	0.00579562690922	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.843e-07	6.84e-07	1.362e-06	0	8.995e-07	0	0	.	.	0	0	0	0	0	0	8.995e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.378	0.18184	T	0.44	0.13752	T	0.002	0.12183	B	0.003	0.12133	B	0.059542	0.22315	N	0.380669	1	0.08975	N	0.835	0.21042	L	2.34	0.16351	T	-2.54	0.57599	D	0.061	0.03283	-0.9632	0.38567	T	0.018	0.07659	T	10	0.06331396	0.08228	T	0.005796	0.15042	T	0.054	0.15330	0.229	0.15556	0.119812018005	0.11559	0.18906962422950718	0.18824	0.676155866207	0.59746	0.273026973009	0.06539	T	0.004958	0.04384	T	-0.357288	0.04285	T	-0.750996	0.03447	T	0.0664932993708574	0.08150	T	0.611839	0.23352	T	0.09235148	0.21664	0.11165599	0.26935	0.09235148	0.21664	0.11165599	0.26934	-3.61	0.20089	T	0.2383105047827012	0.32275	0.072	0.15070	B	.;.	.;.	1.622847	0.20726	14.88	0.93561860293478327	0.23399	0.15875	0.19123	N	AEFBHI	0.069555	0.13772	N	-1.01244890766623	0.08345	0.3909459	-0.960241049946245	0.10686	0.5398023	0.999653145229444	0.41424	0.732398	0.92422	0	0.743671	0.97443	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.76	-2.27	0.06458	0.453000	0.21523	0.475000	0.18750	0.665000	0.62972	0.328000	0.25572	0.028000	0.21151	0.959000	0.51448	0.0:0.4201:0.0:0.5799	11.195	0.47932	826	0.39940	PIH1 domain;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	1812.43	146	chr14	49625711	.	T	C	1812.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.858;DP=453;ExcessHet=0;FS=2.075;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.41;ReadPosRankSum=-0.57;SOR=0.888	GT:AD:DP:GQ:PL	0/1:77,69:146:99:1824,0,2118	9	0	1	0
chr14	50112624	50112624	C	G	exonic	VCPKMT	.	nonsynonymous SNV	VCPKMT:NM_024558:exon5:c.G666C:p.K222N	.	480	1038	4	0	0	4	0.00192308	.	.	.	2197361	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.067	0.0127493638357	0.0003	0.000599042	0.0008	0	0	0	0	0.0014	0	0.0005	0.0002975	46	154602	rs200646804	0.0003	0.0004	0.0003	0.0004	0.0035	0.0003	0.0003	0.0022	0.0017	0.0003	0.0006	0.0006	0	2.011e-05	0.0035	0.0003	0.0007	0.0006	0.0004	0.0004	0.0004	0.0004	0.0012	0.0004	0.0003	0.0008	0.0006	9.628e-05	0	0.0012	0.0006	0	0	0.0034	0.0005	0.0014	0.0004	0.018	0.50676	D	0.016	0.60972	D	0.651	0.40707	P	0.198	0.36766	B	0.000320	0.45977	U	0.132703	0.687188	0.81001	D	1.845	0.48678	L	1.84	0.24656	T	-2.0	0.46146	N	0.477	0.51226	-1.0772	0.07901	T	0.035	0.14900	T	10	0.02866596	0.00997	T	0.012749	0.31594	T	0.067	0.19503	0.468	0.54052	0.374613414588	0.37068	0.5976796688275531	0.59698	0.00750058978399	0.00664	0.644303202629	0.59176	T	0.014893	0.12595	T	-0.454093	0.01068	T	-0.523607	0.19929	T	0.0451758876442909	0.04634	T	0.762724	0.38847	T	0.3785113	0.59209	0.17212425	0.39445	0.3785113	0.59209	0.17212425	0.39444	-3.769	0.20342	T	.	.	0.815	0.78008	P	.	.	3.395855	0.47037	22.4	0.99831859792787725	0.91370	0.97822	0.77388	D	AEFBI	0.339885	0.43688	N	-0.0890925969782925	0.37870	2.209558	0.0151718083373475	0.40419	2.411825	0.999940326343778	0.47345	0.489673	0.17934	0	0.71359	0.82159	0	0.575934	0.27490	0	0.491896	0.07777	0	.	.	5.21	3.37	0.37692	2.167000	0.42042	2.179000	0.31114	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.7833:0.0:0.2167	9.687	0.39270	450	0.79359	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.006559	0.010101	0.006793	0.014706	0.000000	0.000000	0.003049	0.000000	0.05	1083.43	78	chr14	50112624	.	C	G	1083.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.345;DP=391;ExcessHet=0;FS=0.863;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.89;ReadPosRankSum=1.19;SOR=0.856	GT:AD:DP:GQ:PL	0/1:34,44:78:99:1095,0,863	9	0	1	0
chr14	51249735	51249735	C	T	exonic	TMX1	.	nonsynonymous SNV	TMX1:NM_030755:exon7:c.C634T:p.R212C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.128	0.00962607602489	8.5e-05	0.000399361	0.0006	0	0	0	0.0092	0.0001	0.0044	0.0002	0.0005239	81	154602	rs202022158	0.0003	0.0003	0.0003	0.0004	0.0010	0.0003	0.0003	0.0005	0.0003	0.0002	0	0.0006	2.521e-05	0.0070	0.0010	5.668e-05	0.0004	0.0002	0.0007	0.0007	0.0004	0.0011	0.0002	0.0006	0.0006	0.0002	0.0001	2.407e-05	0	0	0.0009	0	0.0086	0	0.0002	0	0.0002	0.063	0.36709	T	0.036	0.52060	D	0.965	0.56013	D	0.517	0.48105	P	0.006703	0.31850	N	0.382752	0.999369	0.46798	D	1.905	0.50856	L	0.31	0.58613	T	-1.76	0.41618	N	0.343	0.38438	-0.7955	0.55409	T	0.228	0.59359	T	10	0.004696518	0.00099	T	0.009626	0.25176	T	0.128	0.35103	.	.	0.759747110694	0.75756	0.31696189607093933	0.31609	0.107717183507	0.12152	0.336024284363	0.15843	T	0.054572	0.29763	T	-0.311509	0.07616	T	-0.276585	0.47154	T	0.0543678445186032	0.06252	T	0.827517	0.49142	T	0.12921189	0.30187	0.06100533	0.11710	0.12921189	0.30186	0.06100533	0.11709	-6.848	0.52915	T	.	.	0.120	0.24800	B	.	.	3.987715	0.58662	24.0	0.99892130016739178	0.96589	0.78554	0.38773	D	AEFBI	0.174111	0.30123	N	0.452441450458636	0.64341	4.686467	0.497475505534637	0.67822	5.135798	0.999986808096646	0.51787	0.732398	0.92422	0	0.724815	0.89359	0	0.724815	0.87919	0	0.727631	0.95156	0	.	.	5.63	4.7	0.58776	2.757000	0.47236	2.273000	0.31844	0.599000	0.40250	0.996000	0.39380	0.999000	0.35428	0.993000	0.69303	0.2562:0.7438:0.0:0.0	13.368	0.60142	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	0.000506	0.000000	0.000000	0.002959	0.000000	0.000000	0.000000	0.000000	0.05	561.43	50	chr14	51249735	.	C	T	561.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=3.66;DP=257;ExcessHet=0;FS=7.058;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.23;ReadPosRankSum=-1.941;SOR=1.88	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:30,20:50:99:0|1:51249735_C_T:573,0,662:51249735	9	0	1	0
chr14	52432318	52432318	A	C	exonic	TXNDC16	.	nonsynonymous SNV	TXNDC16:NM_001160047:exon21:c.T2449G:p.S817A,TXNDC16:NM_020784:exon21:c.T2464G:p.S822A	.	601	908	9	4	0	17	0.00927441	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.054	.	0.0002	0.00399361	0.0025	9.694e-05	0.0002	0	0	0.0002	0	0.0188	0.0021216	328	154602	rs144886303	0.0012	0.0012	0.0007	0.0017	0.0162	0.0012	0.0011	0.0155	0.0152	0.0001	0.0002	0.0015	0	0	0.0019	0.0002	0.0012	0.0162	0.0007	0.0007	0.0004	0.0010	0.0176	0.0006	0.0005	0.0146	0.0135	2.405e-05	0	0	0.0017	0.0002	0	0.0034	0.0001	0.0005	0.0176	0.0	0.91255	D	0.525	0.10281	T	0.0	0.02946	B	0.001	0.04355	B	0.009551	0.01245	N	2.963580	1	0.08975	N	1.1	0.28011	L	2.27	0.17431	T	0.43	0.03297	N	0.085	0.06190	-0.9910	0.32347	T	0.023	0.09604	T	10	0.0028789937	0.00046	T	.	.	.	0.054	0.15330	.	.	0.236890367714	0.23314	0.02832776152688603	0.02782	0.0191806811106	0.01871	0.323685586452	0.13979	T	6.69E-4	0.00291	T	-0.561185	0.00250	T	-0.565906	0.15826	T	0.0353943228985161	0.02875	T	0.112489	0.00851	T	0.1431432	0.32911	0.113746524	0.27454	0.1431432	0.32910	0.113746524	0.27454	-4.315	0.28387	T	.	.	0.072	0.04277	B	.	.	0.164659	0.05545	2.006	0.64902230717678866	0.07622	0.07353	0.13374	N	AEFI	0.049833	0.08648	N	-1.00522374241208	0.08495	0.3985125	-1.00942195171716	0.09577	0.4772778	0.101633738089486	0.16386	0.638212	0.43195	0	0.670034	0.63936	0	0.653264	0.51672	0	0.620846	0.47308	0	.	.	5.07	-0.147	0.12771	0.277000	0.18496	1.455000	0.26636	0.750000	0.87069	0.020000	0.19661	0.084000	0.22431	0.051000	0.15275	0.4118:0.3341:0.0928:0.1613	1.840	0.02957	835	0.38313	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.003030	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.018939	0.05	848.43	74	chr14	52432318	.	A	C	848.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.41;DP=381;ExcessHet=0;FS=3.693;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.47;ReadPosRankSum=-1.014;SOR=1.187	GT:AD:DP:GQ:PL	0/1:43,31:74:99:860,0,1150	9	0	1	0
chr14	58213644	58213644	T	C	exonic	ACTR10	.	nonsynonymous SNV	ACTR10:NM_018477:exon6:c.T464C:p.I155T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.324	0.0362747916202	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0.0026	0.0003	0.0002	0.0003	0.0002	0.0002	0.0003	0.0003	0.0002	0	8.123e-05	7.948e-05	1.955e-05	0	0.0003	0.0002	7.24e-05	6.639e-06	2.641e-05	0	1.359e-05	1.482e-05	0	0	.	.	0	0	0	0	0	0	0	1.482e-05	0	0	0.35	0.12305	T	0.45	0.12957	T	0.0	0.02946	B	0.001	0.04355	B	0.000051	0.53742	D	0.197305	0.974077	0.39075	D	0.06	0.08197	N	-3.44	0.94428	D	-1.31	0.32791	N	0.456	0.49328	0.114	0.84424	D	0.666	0.88403	D	10	0.36079857	0.52715	T	0.036275	0.56887	D	0.324	0.64624	0.434	0.48500	0.993195394259	0.99311	0.5930593215126997	0.59235	0.374889918543	0.38946	0.782578408718	0.79317	T	0.399172	0.75708	T	0.0213512	0.54564	T	-0.207107	0.53971	T	0.59854531288147	0.36343	D	0.833317	0.50212	T	0.060931925	0.12560	0.09373129	0.22154	0.060931925	0.12560	0.09373129	0.22154	-5.421	0.41121	T	.	.	0.486	0.63951	A	.	.	3.186553	0.43278	21.7	0.8580340382623457	0.16122	0.91508	0.53678	D	AEFBI	0.213280	0.33888	N	-0.111420387238393	0.36894	2.138883	0.0755270437198708	0.43321	2.636326	0.9557581108309	0.28208	0.732398	0.92422	0	0.743671	0.97443	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	5.8	5.8	0.92081	4.582000	0.60668	7.707000	0.66598	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.500000	0.29017	0.0:0.0786:0.0:0.9214	9.930	0.40688	881	0.29269	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.35	805.9	81	chr14	58213644	.	T	C	805.9	.	AC=7;AF=0.35;AN=20;BaseQRankSum=-2.332;DP=628;ExcessHet=7.0302;FS=229.252;InbreedingCoeff=-0.531;MLEAC=7;MLEAF=0.35;MQ=60;MQRankSum=0;QD=1.79;ReadPosRankSum=1.73;SOR=10.236	GT:AD:DP:GQ:PL	0/1:51,30:81:99:231,0,863	3	0	7	0
chr14	58474776	58474776	T	A	exonic	KIAA0586	.	nonsynonymous SNV	KIAA0586:NM_001244193:exon16:c.T2384A:p.L795Q,KIAA0586:NM_014749:exon18:c.T2576A:p.L859Q,KIAA0586:NM_001244191:exon19:c.T2549A:p.L850Q,KIAA0586:NM_001329943:exon19:c.T2804A:p.L935Q,KIAA0586:NM_001329944:exon19:c.T2804A:p.L935Q,KIAA0586:NM_001329945:exon19:c.T2549A:p.L850Q,KIAA0586:NM_001329946:exon19:c.T2804A:p.L935Q,KIAA0586:NM_001329947:exon19:c.T2804A:p.L935Q,KIAA0586:NM_001364700:exon19:c.T2549A:p.L850Q,KIAA0586:NM_001364701:exon19:c.T2549A:p.L850Q,KIAA0586:NM_001244190:exon20:c.T2759A:p.L920Q,KIAA0586:NM_001244192:exon20:c.T2672A:p.L891Q,KIAA0586:NM_001244189:exon21:c.T2963A:p.L988Q	Joubert syndrome 23, Autosomal recessive;Short-rib thoracic dysplasia 14 with polydactyly, Autosomal recessive	437	1079	5	1	0	7	0.00323326	.	.	YES	464326	Joubert_syndrome_23|Short-rib_thoracic_dysplasia_14_with_polydactyly|not_provided|Inborn_genetic_diseases	MONDO:MONDO:0014664,MedGen:C4084822,OMIM:616490,Orphanet:475|MONDO:MONDO:0014688,MedGen:C4225286,OMIM:616546,Orphanet:397715|MedGen:C3661900|MeSH:D030342,MedGen:C0950123	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.267	0.0957546606602	.	0.000199681	0.0001	0	0.0003	0	0	3.038e-05	0	0.0006	0.00011	17	154602	rs537951340	5.921e-05	5.951e-05	4.521e-05	7.337e-05	0.0014	4.908e-05	4.525e-05	0.0007	0.0005	0	0.0002	0	0	0	0.0014	3.608e-06	0.0001	0.0007	3.282e-05	3.281e-05	2.569e-05	4.028e-05	0.0004	1.26e-05	7.97e-06	7.29e-05	3.029e-05	0	0	6.535e-05	0	0.0002	0	0	1.47e-05	0	0.0004	0.001	0.78490	D	0.006	0.76473	D	1.0	0.90584	D	0.958	0.70027	D	0.019676	0.27206	N	0.244133	0.764015	0.34072	D	2.615	0.76484	M	0.6	0.53731	T	-5.21	0.85765	D	0.776	0.77319	-0.0579	0.81038	T	0.345	0.71020	T	10	0.49389455	0.61153	T	0.095755	0.76484	D	0.267	0.58126	0.457	0.52265	0.786933238966	0.78496	0.504494989588134	0.50371	0.160885964806	0.18162	0.44115126133	0.30734	T	0.197964	0.87055	T	-0.0136099	0.49758	T	0.101255	0.76991	D	0.550540626049042	0.34497	D	0.886911	0.61435	D	0.7585486	0.81368	0.8165605	0.89319	0.7585486	0.81369	0.8165605	0.89320	-12.587	0.87813	D	0.7795839336280106	0.85964	0.206	0.50979	B	.;.;.;.;.;.	.;.;.;.;.;.	4.614646	0.73217	26.0	0.99565483593220494	0.72075	0.94497	0.61356	D	AEFBI	0.501436	0.53428	D	0.652569536981193	0.76536	6.504511	0.620418170669781	0.76425	6.48849	0.999988385061285	0.51787	0.706298	0.61202	0	0.708844	0.79440	0	0.65145	0.50148	0	0.613276	0.41899	0	.	.	5.36	5.36	0.76624	4.256000	0.58601	7.799000	0.69096	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.977000	0.56843	0.0:0.0:0.0:1.0	15.006	0.71174	778	0.48011	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.000000	0.05	1374.43	83	chr14	58474776	.	T	A	1374.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=3.42;DP=383;ExcessHet=0;FS=0.868;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=16.56;ReadPosRankSum=1.02;SOR=0.855	GT:AD:DP:GQ:PL	0/1:38,45:83:99:1386,0,902	9	0	1	0
chr14	64158707	64158707	T	C	exonic	SYNE2	.	nonsynonymous SNV	SYNE2:NM_015180:exon86:c.T15875C:p.M5292T,SYNE2:NM_182914:exon86:c.T15875C:p.M5292T	Emery-Dreifuss muscular dystrophy 5, autosomal dominant, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.143	0.00538161103081	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1245310548	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.57e-06	6.566e-06	0	1.345e-05	2.412e-05	0	0	.	.	2.412e-05	0	0	0	0	0	0	0	0	0	0.099	0.45039	T	0.026	0.60972	D	0.013	0.16609	B	0.009	0.14300	B	0.041119	0.23984	N	0.401918	0.999988	0.54805	D	1.655	0.42436	L	1.39	0.33842	T	-2.65	0.59710	D	0.474	0.55280	-1.0841	0.06572	T	0.073	0.29675	T	10	0.19718808	0.35641	T	0.005382	0.13801	T	0.143	0.38195	0.536	0.64585	0.319402600006	0.31557	0.3253330187294607	0.32446	0.0539322971594	0.05956	0.529864430428	0.43015	T	0.035396	0.50140	T	-0.123387	0.32572	T	-0.415013	0.31648	T	0.172842237501572	0.18771	T	0.611639	0.23235	T	0.08136348	0.18690	0.15216553	0.35812	0.08136348	0.18690	0.15216553	0.35811	-3.679	0.21014	T	.	.	0.191	0.41000	B	.;.;.;.;.	.;.;.;.;.	1.354212	0.17625	13.27	0.893201424526746	0.18696	0.58238	0.30589	D	AEFGBI	0.052091	0.09265	N	-0.429603788888434	0.24437	1.31946	-0.336983711819935	0.26915	1.489921	0.0805734006329366	0.15850	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.645948	0.59608	0	.	.	5.77	3.35	0.37468	0.797000	0.26660	0.426000	0.18273	0.661000	0.55757	1.000000	0.71638	0.995000	0.32472	1.000000	0.97212	0.0:0.0746:0.1466:0.7788	7.200	0.25051	540	0.73006	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	2693.57	112	chr14	64158707	.	T	C	2693.57	.	AC=8;AF=0.5;AN=16;BaseQRankSum=-2.332;DP=1280;ExcessHet=10.3881;FS=229.843;InbreedingCoeff=-0.8182;MLEAC=9;MLEAF=0.563;MQ=60;MQRankSum=0;QD=2.74;ReadPosRankSum=1.66;SOR=11.226	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:75,37:112:99:.:.:302,0,1414:.	0	0	8	2
chr14	74798881	74798881	A	G	exonic	YLPM1	.	nonsynonymous SNV	YLPM1:NM_019589:exon5:c.A3584G:p.H1195R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.148	0.0137560213627	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1201214331	1.368e-05	1.368e-05	1.634e-05	1.1e-05	0.0002	8.94e-06	7.26e-06	1.093e-05	8.81e-06	0	0	0	0	0	0.0002	1.709e-05	0	0	6.572e-06	6.567e-06	0	1.345e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	.	.	.	0.123	0.35582	T	.	.	.	.	.	.	0.000002	0.62929	D	0.000000	0.996016	0.81001	D	.	.	.	.	.	.	-2.26	0.50502	N	0.515	0.54584	-0.2427	0.76556	T	0.385	0.74039	T	9	0.31650186	0.49070	T	0.013756	0.33405	T	0.148	0.39182	0.169	0.07419	0.110392049598	0.10638	0.2864389490243952	0.28556	0.327290207429	0.34864	0.686651468277	0.65224	T	.	.	.	0.0352592	0.56420	T	-0.187129	0.55859	T	0.708846488908455	0.41144	D	0.719828	0.33277	T	0.45201182	0.64168	0.56266046	0.74692	0.45201182	0.64169	0.56266046	0.74693	-0.514	0.00592	T	.	.	0.194	0.41495	B	.	.	3.118582	0.42097	21.5	0.97870959443564765	0.36533	0.98907	0.88457	D	AEFBI	0.664038	0.63335	D	0.699300357671686	0.79585	7.109115	0.698403476592816	0.82256	7.72257	0.999999997779395	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.66	5.66	0.87293	6.777000	0.74822	9.229000	0.79345	0.743000	0.86499	1.000000	0.71638	1.000000	0.68203	0.987000	0.62547	1.0:0.0:0.0:0.0	15.883	0.78998	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	.	.	.	.	.	.	.	.	0.05	2601.43	195	chr14	74798881	.	A	G	2601.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.405;DP=514;ExcessHet=0;FS=1.757;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.34;ReadPosRankSum=0.968;SOR=0.634	GT:AD:DP:GQ:PL	0/1:91,104:195:99:2613,0,2356	9	0	1	0
chr14	77027451	77027451	T	0	exonic	IRF2BPL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6111	467.86	24	chr14	77027451	.	T	*	467.86	.	AC=11;AF=0.611;AN=18;DP=359;ExcessHet=5.3821;FS=3.352;InbreedingCoeff=-0.3867;MLEAC=12;MLEAF=0.667;MQ=60;MQRankSum=0;QD=2.01;ReadPosRankSum=0.339;SOR=0.49	GT:AD:DP:GQ:PL	0/1:3,21:24:63:870,0,63	0	2	7	1
chr14	94497802	94497802	C	T	exonic	SERPINA12	.	nonsynonymous SNV	SERPINA12:NM_001304461:exon2:c.G596A:p.G199D,SERPINA12:NM_001382267:exon2:c.G596A:p.G199D,SERPINA12:NM_173850:exon3:c.G596A:p.G199D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.133	0.0188046605053	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1455963195	6.871e-07	2.052e-06	0	1.382e-06	2.524e-05	0	0	.	.	0	0	0	2.524e-05	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.463	0.08660	T	0.657	0.06576	T	0.011	0.15914	B	0.017	0.18140	B	0.251813	0.15493	N	0.613802	1	0.08975	N	0.66	0.16226	N	-2.05	0.85799	D	-1.46	0.35792	N	0.148	0.15046	-0.8956	0.48427	T	0.266	0.63727	T	10	0.040331542	0.02593	T	0.018805	0.40992	T	0.133	0.36157	0.432	0.48171	0.216624796971	0.21254	0.6112549893490689	0.61057	0.100516046514	0.11355	0.37503361702	0.21551	T	0.03395	0.23124	T	-0.223248	0.17552	T	-0.389328	0.34630	T	0.0576949219063508	0.06800	T	0.584142	0.21248	T	0.26295173	0.49358	0.10561278	0.25391	0.26295173	0.49358	0.10561278	0.25390	-1.722	0.02287	T	.	.	0.224	0.49509	B	.;.	.;.	2.009921	0.25536	16.80	0.080949235166052638	0.00057	0.07238	0.13262	N	AEFCI	0.065923	0.12884	N	-0.924847551878464	0.10263	0.4896058	-0.843139383567271	0.13453	0.6979405	0.0132140536699464	0.12433	0.487112	0.14033	0	0.59043	0.45803	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.49	2.69	0.30923	-0.172000	0.09858	0.548000	0.19395	0.599000	0.40250	0.000000	0.06391	0.008000	0.19753	0.813000	0.38311	0.1769:0.4335:0.0:0.3895	3.621	0.07640	793	0.45818	Serpin domain|Serpin domain;Serpin domain|Serpin domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	4095.04	116	chr14	94497802	.	C	T	4095.04	.	AC=10;AF=0.5;AN=20;BaseQRankSum=-1.987;DP=1206;ExcessHet=22.563;FS=233.998;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=60;MQRankSum=0;QD=3.59;ReadPosRankSum=0.204;SOR=12.109	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:61,55:116:99:.:.:622,0,1176:.	0	0	10	0
chr14	104948036	104948036	G	A	exonic	AHNAK2	.	nonsynonymous SNV	AHNAK2:NM_001350929:exon7:c.C7115T:p.A2372V,AHNAK2:NM_138420:exon7:c.C7415T:p.A2472V	.	420	1101	1	0	0	1	0.000453926	.	.	.	3185728	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.041	0.00138525580824	0.0007	.	0.0008	0	0	0	0	0.0013	0.0011	0.0002	0.0006339	98	154602	rs199577521	0.0004	0.0004	0.0004	0.0005	0.0003	0.0004	0.0004	0.0001	0.0001	5.988e-05	2.236e-05	0.0150	0.0001	0	0.0003	0.0001	0.0011	0.0001	0.0005	0.0005	0.0005	0.0005	0.0002	0.0004	0.0004	0.0001	0.0001	0	0	0	0.0162	0	0	0	0.0002	0.0010	0.0002	0.113	0.28772	T	0.125	0.35330	T	0.999	0.77913	D	0.981	0.75168	D	.	.	.	.	1	0.08975	N	2.24	0.63355	M	5.83	0.00652	T	-1.08	0.28084	N	0.085	0.06190	-0.9607	0.39050	T	0.009	0.03271	T	9	0.0064863563	0.00147	T	0.001385	0.02011	T	0.041	0.10877	.	.	0.0401082797425	0.02173	0.0015700907232996237	0.00145	.	.	0.207319930196	0.00703	T	0.021377	0.16659	T	-0.542101	0.00326	T	-0.714745	0.05054	T	0.0250484629572635	0.01279	T	0.691931	0.30130	T	0.018897714	0.00413	0.026452301	0.00736	0.018897714	0.00413	0.026452301	0.00736	-7.115	0.54868	T	.	.	0.158	0.34949	B	.	.	1.033996	0.14140	10.72	0.99722137581551573	0.82125	0.01792	0.05602	N	AEFBI	.	.	.	-0.487508253734615	0.22491	1.201216	-0.774470318940478	0.15122	0.793736	9.54149415450864E-5	0.04910	0.732398	0.92422	0	0.547309	0.14657	0	0.602189	0.34648	0	0.727631	0.95156	0	.	.	3.51	0.422	0.15674	-0.534000	0.06238	-20.000000	0.00162	-0.866000	0.02592	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.4369:0.4342:0.1289	5.344	0.15303	982	0.03397	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.000538	0.000000	0.000000	0.000000	0.000000	0.008621	0.000000	0.000000	0.05	6911.43	512	chr14	104948036	.	G	A	6911.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.22;DP=2906;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.5;ReadPosRankSum=1.32;SOR=0.689	GT:AD:DP:GQ:PL	0/1:253,259:512:99:6923,0,6087	9	0	1	0
chr14	104950043	104950043	A	G	exonic	AHNAK2	.	nonsynonymous SNV	AHNAK2:NM_001350929:exon7:c.T5108C:p.V1703A,AHNAK2:NM_138420:exon7:c.T5408C:p.V1803A	.	440	1056	25	1	0	27	0.0126227	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	.	.	0.00958466	0.0009	0.0049	0.0005	0.0014	0	0.0003	0.0023	0.0010	0.0012613	195	154602	rs145652874	0.0009	0.0026	0.0009	0.0009	0.0159	0.0009	0.0008	0.0148	0.0143	0.0159	0.0020	0.0002	0.0020	0.0002	0.0032	0.0003	0.0019	0.0015	0.0071	0.0099	0.0075	0.0068	0.0241	0.0068	0.0066	0.0228	0.0222	0.0241	0	0.0037	0	0.0021	0	0.0072	0.0004	0.0082	0.0005	0.823	0.02936	T	0.538	0.09829	T	0.01	0.15535	B	0.001	0.04355	B	.	.	.	.	1	0.08975	N	-1.23	0.00807	N	5.95	0.00612	T	0.83	0.01787	N	0.023	0.00407	-0.9457	0.41698	T	0.000	0.00075	T	9	0.0042342544	0.00085	T	.	.	.	0.014	0.01968	.	.	0.0138822411134	0.00435	0.003104252817684476	0.00289	.	.	0.205832988024	0.00647	T	0.016131	0.13395	T	-0.741744	0.00020	T	-0.819986	0.01452	T	0.0039249460276532	0.00042	T	0.174383	0.01678	T	0.016648958	0.00212	0.028164823	0.01028	0.016648958	0.00212	0.028164823	0.01028	0.606	0.00192	T	.	.	0.074	0.05231	B	.	.	-1.605512	0.00237	0.004	0.24895953066776089	0.01122	0.00079	0.00540	N	AEFBI	.	.	.	-2.08541276212991	0.00138	0.005898899	-2.17211708655396	0.00129	0.005680874	0.00857578015082789	0.11701	0.67177	0.52595	0	0.588015	0.36545	0	0.602189	0.34648	0	0.711	0.71501	0	.	.	2.02	-4.05	0.03730	-5.785000	0.00119	-12.495000	0.00521	-2.579000	0.00240	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.4939:0.1884:0.3176:0.0	3.928	0.08771	982	0.03397	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.010787	0.036082	0.001362	0.008333	0.000000	0.008621	0.013072	0.003846	0.15	12264.4	616	chr14	104950043	.	A	G	12264.4	.	AC=3;AF=0.15;AN=20;BaseQRankSum=-1.713;DP=2357;ExcessHet=0;FS=0;InbreedingCoeff=0.6078;MLEAC=3;MLEAF=0.15;MQ=58.03;MQRankSum=-22.59;QD=13.72;ReadPosRankSum=-6.119;SOR=0.719	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:565,51:616:99:0|1:104950030_A_C:213,0,23464:104950030	8	1	1	0
chr15	22081297	22081297	T	C	exonic	OR4M2	.	nonsynonymous SNV	OR4M2:NM_001004719:exon1:c.T673C:p.F225L	.	540	106	147	729	0	1605	0.883324	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.105	.	.	.	0.9050	0.7710	0.9468	0.9535	0.9317	0.9220	0.9117	0.8549	0.780262	120630	154602	rs491208	0	5.101e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.000844	0.41440	N	0.000000	1	0.08975	P	-2.445	0.00066	N	.	.	.	.	.	.	0.024	0.00445	-0.9717	0.36841	T	0.000	0.00011	T	9	7.2730036e-05	0.00009	T	.	.	.	.	.	0.54	0.65161	.	.	0.19599440268041618	0.19516	.	.	.	.	.	0.00272	0.02115	T	-0.672873	0.00053	T	-0.702807	0.05673	T	0.00771905005910873	0.00090	T	0.142386	0.01156	T	0.07985808	0.18268	0.08259106	0.18862	0.07985808	0.18267	0.08259106	0.18861	0.242	0.00274	T	.	.	0.245	0.47901	B	.	.	1.048175	0.14294	10.87	0.73235698812529659	0.10255	0.01725	0.05460	N	AEFGBCI	.	.	.	-1.86751014071891	0.00400	0.01720119	-1.75517952119794	0.00914	0.04088312	0.944484955208236	0.27617	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	2.5	0.487	0.16050	-0.893000	0.04234	-0.516000	0.08717	-0.757000	0.03535	0.000000	0.06391	0.000000	0.08366	0.008000	0.08271	0.0:0.4472:0.0:0.5528	6.210	0.19834	.	.	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.865792	0.833333	0.845109	0.862573	0.900000	0.887931	0.920732	0.867424	0.95	18756.2	63	chr15	22081297	.	T	C	18756.2	.	AC=19;AF=0.95;AN=20;BaseQRankSum=7.91;DP=859;ExcessHet=0;FS=81.645;InbreedingCoeff=-0.0526;MLEAC=19;MLEAF=0.95;MQ=36.89;MQRankSum=-2.175;QD=23.98;ReadPosRankSum=1.65;SOR=5.13	GT:AD:DP:GQ:PL	1/1:0,63:63:99:2065,189,0	0	9	1	0
chr15	22768722	22768722	G	C	exonic	GOLGA6L7	.	unknown	UNKNOWN	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1216470246	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0034	0.0061	0.0034	0.0035	0.0049	0.0030	0.0029	0.0036	0.0033	0.0013	0.0178	0.0049	0.0012	0	0.0036	0.0167	0.0042	0.0097	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	.	.	.	.	.	.	.	.	0.1429	100.03	3	chr15	22768722	.	G	C	100.03	.	AC=2;AF=0.143;AN=14;DP=32;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.143;MQ=48.32;QD=33.34;SOR=1.179	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,3:3:9:1|1:22768722_G_C:115,9,0:22768722	6	1	0	3
chr15	22769365	22769366	CT	0	exonic	GOLGA6L7	.	.	.	.	712	800	2	7	1	17	0.00990099	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2778	118.81	2	chr15	22769365	.	CT	*	118.81	.	AC=5;AF=0.278;AN=18;BaseQRankSum=-0.674;DP=50;ExcessHet=0;FS=3.31;MLEAC=5;MLEAF=0.278;MQ=52.79;MQRankSum=-0.831;QD=6.99;ReadPosRankSum=-0.475;SOR=0.595	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,2:2:7:1|1:22769365_CT_C:67,7,0:22769365	6	2	1	1
chr15	23440492	23440492	C	0	exonic	GOLGA6L2	.	.	.	.	628	57	798	30	9	867	0.882716	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	14334.1	129	chr15	23440492	.	C	*	14334.1	.	AC=10;AF=0.5;AN=20;BaseQRankSum=0.467;DP=1215;ExcessHet=0;FS=0.964;InbreedingCoeff=-0.0526;MLEAC=10;MLEAF=0.5;MQ=58.42;MQRankSum=-0.924;QD=12.2;ReadPosRankSum=0.063;SOR=0.471	GT:AD:DP:GQ:PGT:PID:PL:PS	1|0:0,62:129:99:1|0:23440436_T_C:4782,2328,2777:23440436	0	0	10	0
chr15	23646824	23646824	G	A	exonic	MAGEL2	.	nonsynonymous SNV	MAGEL2:NM_019066:exon1:c.C919T:p.P307S	Schaaf-Yang syndrome, Autosomal dominant	0	1519	3	0	0	3	0.000986518	.	.	.	429618	not_provided|not_specified	MedGen:C3661900|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	0.000199681	0.0008	0	0	0	0	0.0020	0	0.0004	0.0002005	31	154602	rs555920534	0.0011	0.0010	0.0011	0.0010	0.0018	0.0010	0.0010	0.0012	0.0011	0.0002	0.0002	0.0009	0	0.0004	0.0018	0.0012	0.0010	0.0003	0.0006	0.0006	0.0008	0.0004	0.0011	0.0005	0.0005	0.0009	0.0008	0.0001	0	0.0003	0.0003	0	9.407e-05	0.0034	0.0011	0	0.0006	.	.	.	0.014	0.62352	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.32	0.36043	.	.	.	.	.	.	.	0.020911455	0.00490	T	.	.	.	.	.	.	.	0.189391138174	0.18552	0.27398347525440125	0.27311	.	.	0.569063305855	0.48545	T	0.135	0.46609	T	-0.261197	0.12760	T	-0.198408	0.54798	T	.	.	.	0.582642	0.21138	T	0.036905363	0.04628	0.10031832	0.23981	0.036905363	0.04628	0.10031832	0.23980	-5.874	0.45212	T	.	.	0.134	0.29032	B	.;.	.;.	2.170948	0.27664	17.54	0.90032395018100519	0.19320	0.10603	0.16063	N	AEFDBI	.	.	.	.	.	.	.	.	.	0.99267087112918	0.32927	0.162408	0.03677	1	0.063388	0.01293	0	0.132232	0.03703	1	0.062806	0.01542	0	0.123528	0.25025	3.29	0.18	0.14352	0.945000	0.28654	3.550000	0.39044	-0.255000	0.07062	0.007000	0.17678	1.000000	0.68203	0.019000	0.11356	0.1066:0.3463:0.5471:0.0	6.632	0.22056	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	1	0	0	0	0	0	0	0.002801	0.000000	0.000000	0.000000	0.000000	0.000000	0.007246	0.000000	0.05	2184.43	160	chr15	23646824	.	G	A	2184.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.57;DP=487;ExcessHet=0;FS=5.767;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.65;ReadPosRankSum=-0.83;SOR=0.396	GT:AD:DP:GQ:PL	0/1:79,81:160:99:2196,0,2147	9	0	1	0
chr15	29124687	29124687	C	G	exonic	FAM189A1	.	nonsynonymous SNV	FAM189A1:NM_015307:exon10:c.G1303C:p.A435P	.	426	1057	37	2	0	41	0.0190255	1.0000	0.972	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.070	.	.	0.00239617	0.0068	0.0022	0.0071	0	0	0.0123	0.0266	0.0029	0.0021604	334	154602	rs61736885	0.0090	0.0086	0.0091	0.0089	0.0400	0.0089	0.0088	0.0358	0.0341	0.0024	0.0050	0.0168	8.395e-05	0.0009	0.0400	0.0101	0.0092	0.0025	0.0066	0.0066	0.0068	0.0064	0.0096	0.0063	0.0062	0.0089	0.0087	0.0024	0.0011	0.0096	0.0176	0	0.0007	0.0374	0.0095	0.0085	0.0039	0.293	0.14843	T	0.418	0.14200	T	0.929	0.51690	P	0.519	0.48163	P	0.406465	0.04566	N	1.383280	0.993407	0.23718	N	0.895	0.22405	L	4.1	0.02944	T	-0.43	0.14390	N	0.112	0.09914	-0.9404	0.42552	T	0.008	0.02926	T	9	0.005343735	0.00117	T	.	.	.	0.070	0.20419	.	.	0.112648838833	0.10856	0.12152855287662725	0.12079	.	.	0.328835964203	0.14758	T	0.00334	0.02748	T	-0.606268	0.00133	T	-0.634243	0.10094	T	0.00694505413504118	0.00079	T	0.29847	0.05558	T	0.1109204	0.26215	0.1353888	0.32417	0.1109204	0.26215	0.1353888	0.32416	-3.344	0.14311	T	.	.	0.070	0.03515	B	.	.	2.485933	0.32067	18.93	0.98772934176810789	0.46002	0.52931	0.29249	D	AEFDBCIJ	0.438409	0.49781	N	-0.269605845737956	0.30328	1.690033	-0.377055002329031	0.25682	1.413872	0.999585297186929	0.40607	0.700653	0.57754	0	0.588015	0.36545	0	0.717052	0.78885	0	0.613276	0.41899	0	.	.	4.56	2.65	0.30588	0.667000	0.24794	0.835000	0.21986	0.537000	0.25018	0.437000	0.26463	0.720000	0.26347	0.032000	0.13371	0.1796:0.7254:0.0:0.095	6.469	0.21197	.	.	.	.	.	.	.	.	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	0.026829	0.015957	0.046154	0.022523	0.083333	0.000000	0.022989	0.013158	0.05	870.43	105	chr15	29124687	.	C	G	870.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.261;DP=424;ExcessHet=0;FS=3.871;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.29;ReadPosRankSum=0.255;SOR=0.374	GT:AD:DP:GQ:PL	0/1:63,42:105:99:882,0,1760	9	0	1	0
chr15	31050561	31050561	G	T	exonic	TRPM1	.	nonsynonymous SNV	TRPM1:NM_001252020:exon11:c.C1336A:p.P446T,TRPM1:NM_002420:exon11:c.C1219A:p.P407T,TRPM1:NM_001252024:exon12:c.C1285A:p.P429T	Night blindness, congenital stationary (complete), 1C, autosomal recessive	0	1506	16	0	0	16	0.00528402	.	.	.	338386	TRPM1-related_disorder|Congenital_stationary_night_blindness_1C|not_provided	.|MONDO:MONDO:0013183,MedGen:C2750747,OMIM:613216,Orphanet:215|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.071	0.0173083298104	0.0002	0.000798722	0.0010	0	0.0003	0.0001	0	4.497e-05	0	0.0070	0.0008409	130	154602	rs374376006	0.0005	0.0005	0.0003	0.0008	0.0080	0.0005	0.0005	0.0075	0.0073	0	0	0	2.519e-05	0	0.0023	3.058e-05	0.0005	0.0080	0.0003	0.0003	0.0001	0.0005	0.0091	0.0002	0.0002	0.0070	0.0062	0	0	0	0	0	0	0	7.352e-05	0	0.0091	0.09	0.34982	T	0.36	0.17014	T	0.105	0.25993	B	0.036	0.22909	B	0.001441	0.38980	N	0.261461	0.978652	0.39483	D	0	0.06538	N	0.79	0.53088	T	-0.73	0.20576	N	0.191	0.24260	-1.0441	0.16089	T	0.071	0.28773	T	10	0.004579723	0.00095	T	0.017308	0.38957	T	0.071	0.20720	.	.	0.33110744837	0.32714	0.23257025644392834	0.23172	0.235449902701	0.26076	0.414190948009	0.27037	T	0.112655	0.42909	T	-0.445086	0.01207	T	-0.407266	0.32542	T	0.0387853520786441	0.03471	T	0.831417	0.49863	T	0.10582837	0.25023	0.0833775	0.19104	0.12601747	0.29527	0.07812132	0.17469	-6.174	0.49283	T	.	.	0.072	0.05579	B	.;.;.;.;.	.;.;.;.;.	1.885926	0.23953	16.21	0.97583065684799442	0.34747	0.96903	0.71570	D	AEFDBCI	0.393222	0.47095	N	-0.409194926242118	0.25145	1.36289	-0.284009402525718	0.28623	1.597451	0.999999997988619	0.74766	0.615755	0.39536	0	0.618376	0.53248	0	0.657636	0.52715	0	0.564101	0.26826	0	.	.	4.97	4.97	0.65419	3.527000	0.53272	0.710000	0.20927	0.618000	0.50648	0.996000	0.39380	0.554000	0.25484	0.065000	0.16320	0.0:0.0:1.0:0.0	13.720	0.62204	819	0.41190	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	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	0.004145	0.000000	0.001359	0.000000	0.000000	0.000000	0.003049	0.022727	0.05	866.43	75	chr15	31050561	.	G	T	866.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.194;DP=429;ExcessHet=0;FS=2.035;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.55;ReadPosRankSum=-2.868;SOR=0.461	GT:AD:DP:GQ:PL	0/1:38,37:75:99:878,0,1094	9	0	1	0
chr15	33066576	33066576	A	G	exonic	FMN1	.	nonsynonymous SNV	FMN1:NM_001103184:exon1:c.T1309C:p.S437P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.118	0.0439174776103	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.269e-06	0.0003	8.328e-06	4.195e-06	3.048e-05	2.95e-06	2.14e-06	3.16e-06	2.28e-06	3.048e-05	0	0	0	0	0	7.335e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.65419	D	0.149	0.63918	T	0.999	0.90584	D	0.961	0.73157	D	0.013889	0.28700	N	0.367334	.	.	.	.	.	.	0.86	0.52416	T	-1.05	0.30140	N	0.667	0.67564	-0.3122	0.74643	T	0.279	0.65058	T	8	0.56316704	0.64902	D	0.043917	0.61227	D	0.118	0.32913	0.237	0.16760	0.692833615445	0.69019	.	.	0.0243119155432	0.02469	.	.	.	.	.	.	0.065645	0.60314	T	-0.143482	0.59815	T	0.97686767578125	0.71575	D	.	.	.	.	.	.	.	.	.	.	.	-11.775	0.83737	D	.	.	0.768	0.82694	P	.;.	.;.	1.889637	0.24000	16.23	0.99337903151617613	0.60051	0.70445	0.34593	D	AEFBCI	0.339556	0.43666	N	0.607978743589503	0.73679	6.005621	0.621611519535191	0.76513	6.504682	0.999997974355125	0.74766	0.554377	0.28877	0	0.59043	0.45803	0	0.602189	0.34648	0	0.542086	0.14980	0	.	.	5.96	5.96	0.96695	2.674000	0.46532	7.052000	0.57375	0.756000	0.94297	0.994000	0.38300	1.000000	0.68203	0.859000	0.40722	0.8664:0.0:0.0:0.1336	11.519	0.49792	718	0.55760	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.375	282.94	81	chr15	33066576	.	A	G	282.94	.	AC=3;AF=0.375;AN=8;BaseQRankSum=0.393;DP=793;ExcessHet=0.7463;FS=134.716;InbreedingCoeff=-0.4286;MLEAC=5;MLEAF=0.625;MQ=60;MQRankSum=0;QD=1.1;ReadPosRankSum=0.803;SOR=6.592	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:71,10:81:99:0|1:33066576_A_G:135,0,2831:33066576	1	0	3	6
chr15	33066577	33066577	C	G	exonic	FMN1	.	nonsynonymous SNV	FMN1:NM_001103184:exon1:c.G1308C:p.E436D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.121	0.0297600126912	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.862e-07	0.0001	0	1.379e-06	.	0	0	.	.	0	0	0	0	0	0	0	1.662e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.098	0.31834	T	0.298	0.32355	T	0.859	0.61523	P	0.569	0.58136	P	0.000805	0.41658	D	0.269242	.	.	.	.	.	.	0.34	0.59717	T	-1.06	0.27669	N	0.523	0.55280	-0.6555	0.62473	T	0.195	0.54913	T	8	0.3596483	0.52628	T	0.02976	0.52206	D	0.121	0.33580	0.179	0.08626	0.723881056707	0.72144	.	.	0.0215900956345	0.02143	.	.	.	.	.	.	-0.156676	0.27274	T	-0.46283	0.26291	T	0.960661649703979	0.65867	D	.	.	.	.	.	.	.	.	.	.	.	-8.241	0.62700	D	.	.	0.231	0.54353	B	.;.	.;.	0.926501	0.13016	9.521	0.9948329941711106	0.67014	0.72494	0.35481	D	AEFBCI	0.313711	0.41879	N	0.240855582260182	0.53189	3.48888	0.245955025105221	0.52420	3.416909	0.999871332870031	0.44625	0.554377	0.28877	0	0.59043	0.45803	0	0.602189	0.34648	0	0.542086	0.14980	0	.	.	5.96	3.06	0.34374	0.207000	0.17194	0.009000	0.13411	0.599000	0.40250	0.983000	0.35670	0.800000	0.26941	0.903000	0.43903	0.1331:0.5968:0.0:0.2702	5.341	0.15286	718	0.55760	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.375	498.01	74	chr15	33066577	.	C	G	498.01	.	AC=3;AF=0.375;AN=8;BaseQRankSum=-1.258;DP=776;ExcessHet=0.7463;FS=182.948;InbreedingCoeff=-0.4302;MLEAC=5;MLEAF=0.625;MQ=60;MQRankSum=0;QD=1.99;ReadPosRankSum=0.966;SOR=6.993	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:58,16:74:99:0|1:33066576_A_G:350,0,1757:33066576	1	0	3	6
chr15	33066579	33066579	C	G	exonic	FMN1	.	nonsynonymous SNV	FMN1:NM_001103184:exon1:c.G1306C:p.E436Q	.	.	.	.	.	.	.	.	.	.	.	3676472	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.220	0.0465556673304	.	.	2.721e-05	0	0	0	0	4.859e-05	0	0	1.94e-05	3	154602	rs955154800	2.466e-05	2.805e-05	3.135e-05	1.79e-05	3.15e-05	1.806e-05	1.603e-05	2.287e-05	2.024e-05	0	0	0	0	1.874e-05	0	3.15e-05	0	0	1.316e-05	1.314e-05	1.286e-05	1.347e-05	2.94e-05	2.19e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.94e-05	0	0	0.003	0.68238	D	0.286	0.60972	T	1.0	0.90584	D	0.989	0.81110	D	0.000805	0.41658	D	0.269242	.	.	.	.	.	.	0.2	0.61923	T	-1.07	0.39314	N	0.607	0.62442	-0.3966	0.72134	T	0.409	0.75810	T	8	0.5905696	0.66356	D	0.046556	0.62513	D	0.220	0.51569	0.204	0.11936	0.824378962961	0.82271	.	.	0.0221738766814	0.02225	.	.	.	.	.	.	-0.0740485	0.40679	T	-0.236485	0.51141	T	0.808419227600098	0.46935	D	.	.	.	.	.	.	.	.	.	.	.	-8.327	0.63277	D	.	.	0.419	0.64113	A	.;.	.;.	2.541376	0.32879	19.17	0.99614688724551159	0.75052	0.94574	0.61609	D	AEFBCI	0.820935	0.74161	D	0.762264303690397	0.83701	8.086839	0.787779339582059	0.88930	9.771612	0.99999999999998	0.74766	0.554377	0.28877	0	0.59043	0.45803	0	0.602189	0.34648	0	0.542086	0.14980	0	.	.	5.96	5.96	0.96695	6.672000	0.74315	7.690000	0.65738	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.947000	0.49155	0.0:1.0:0.0:0.0	20.422	0.99051	718	0.55760	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1429	182.24	83	chr15	33066579	.	C	G	182.24	.	AC=2;AF=0.143;AN=14;BaseQRankSum=-2.471;DP=786;ExcessHet=0.2348;FS=86.775;InbreedingCoeff=-0.2121;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=1.1;ReadPosRankSum=1.8;SOR=5.781	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:73,10:83:99:0|1:33066576_A_G:129,0,2889:33066576	5	0	2	3
chr15	33066580	33066580	C	G	exonic	FMN1	.	nonsynonymous SNV	FMN1:NM_001103184:exon1:c.G1305C:p.K435N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.261	0.097882166908	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.37e-06	3.42e-06	0	2.755e-06	2.52e-05	2.3e-07	9e-08	.	.	0	0	0	2.52e-05	0	0	8.999e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.154	0.70582	T	1.0	0.90584	D	0.999	0.97372	D	0.000001	0.62929	D	0.096983	.	.	.	.	.	.	-0.38	0.72458	T	-2.13	0.59389	N	0.608	0.62526	0.078	0.83767	D	0.453	0.78650	T	8	0.56676614	0.65094	D	0.097882	0.76848	D	0.261	0.57352	0.305	0.27485	0.831138789675	0.82953	.	.	0.0235372491196	0.02386	.	.	.	.	.	.	-0.0593099	0.43016	T	-0.322971	0.42248	T	0.990393579006195	0.80614	D	.	.	.	.	.	.	.	.	.	.	.	-10.821	0.78667	D	.	.	0.891	0.85423	P	.;.	.;.	1.014109	0.13930	10.49	0.99542673395090209	0.70586	0.65955	0.32912	D	AEFBCI	0.401493	0.47596	N	0.357394877581215	0.59132	4.09007	0.32151679407882	0.56807	3.84457	0.999972656303353	0.50053	0.554377	0.28877	0	0.59043	0.45803	0	0.602189	0.34648	0	0.542086	0.14980	0	.	.	5.96	4.1	0.47196	-0.266000	0.08660	-0.170000	0.11235	0.599000	0.40250	0.526000	0.27158	0.290000	0.24159	0.957000	0.51019	0.0:0.7827:0.0:0.2173	10.418	0.43521	718	0.55760	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2	406.82	74	chr15	33066580	.	C	G	406.82	.	AC=2;AF=0.2;AN=10;BaseQRankSum=-1.992;DP=746;ExcessHet=0.2348;FS=135.913;InbreedingCoeff=-0.2903;MLEAC=3;MLEAF=0.3;MQ=60;MQRankSum=0;QD=2.59;ReadPosRankSum=1.37;SOR=6.356	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:58,16:74:99:0|1:33066576_A_G:350,0,1729:33066576	3	0	2	5
chr15	33066583	33066583	C	G	exonic	FMN1	.	nonsynonymous SNV	FMN1:NM_001103184:exon1:c.G1302C:p.E434D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.205	0.0174432321193	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.234	0.18061	T	0.252	0.29056	T	0.724	0.62824	P	0.292	0.58300	B	0.000000	0.84330	D	0.049723	.	.	.	.	.	.	1.03	0.48142	T	-0.87	0.23590	N	0.263	0.29774	-0.6821	0.61275	T	0.170	0.51052	T	8	0.18176183	0.33423	T	0.017443	0.39139	T	0.205	0.49236	0.196	0.10839	0.633120732306	0.63011	.	.	0.0215900956345	0.02143	.	.	.	.	.	.	-0.101551	0.36169	T	-0.383648	0.35295	T	0.987011551856995	0.77596	D	.	.	.	.	.	.	.	.	.	.	.	-7.933	0.60613	D	.	.	0.457	0.69267	A	.;.	.;.	1.631232	0.20829	14.93	0.99234608538238822	0.56342	0.62108	0.31682	D	AEFBCI	0.207444	0.33361	N	0.193011064254835	0.50863	3.272384	0.226642513300989	0.51332	3.316546	0.999944989826091	0.47345	0.554377	0.28877	0	0.59043	0.45803	0	0.602189	0.34648	0	0.542086	0.14980	0	.	.	5.96	4.1	0.47196	0.147000	0.16021	1.800000	0.28874	0.599000	0.40250	0.988000	0.36536	1.000000	0.68203	0.964000	0.52637	0.0:0.7464:0.0:0.2536	10.665	0.44923	718	0.55760	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.125	153.72	83	chr15	33066583	.	C	G	153.72	.	AC=2;AF=0.125;AN=16;BaseQRankSum=-2.454;DP=805;ExcessHet=0.2348;FS=82.843;InbreedingCoeff=-0.1766;MLEAC=2;MLEAF=0.125;MQ=60;MQRankSum=0;QD=0.96;ReadPosRankSum=1.92;SOR=5.667	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:73,10:83:99:0|1:33066576_A_G:130,0,2854:33066576	6	0	2	2
chr15	34063186	34063186	A	G	exonic	CHRM5	.	nonsynonymous SNV	CHRM5:NM_001320917:exon2:c.A469G:p.I157V,CHRM5:NM_012125:exon3:c.A469G:p.I157V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.088	0.00608151966891	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.844e-07	6.841e-06	1.362e-06	0	2.519e-05	0	0	.	.	0	0	0	2.519e-05	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.46	0.08736	T	0.711	0.05506	T	0.0	0.02946	B	0.008	0.13708	B	0.001334	0.39379	N	0.253724	0.940783	0.37310	D	1.04	0.26193	L	-0.63	0.72011	T	-0.31	0.12099	N	0.116	0.13198	-0.9830	0.34305	T	0.156	0.48790	T	10	0.18775466	0.34300	T	0.006082	0.15905	T	0.088	0.25558	0.626	0.76141	0.696999650619	0.69438	0.3752901866809695	0.37443	0.203521310822	0.22768	0.433097302914	0.29632	T	0.038005	0.24685	T	-0.116548	0.33690	T	-0.40519	0.32782	T	0.201341837644577	0.20489	T	0.738526	0.35642	T	0.040826816	0.05899	0.046792056	0.06597	0.040826816	0.05898	0.046792056	0.06597	-5.801	0.44583	T	.	.	0.066	0.02091	B	.;.	.;.	1.689680	0.21528	15.24	0.93943594996111024	0.24001	0.84478	0.43560	D	AEFI	0.151117	0.27553	N	-0.372412849230528	0.26456	1.444023	-0.174715919112262	0.32469	1.847582	0.157900605578005	0.17546	0.553676	0.25195	0	0.588015	0.36545	0	0.624306	0.44879	0	0.613276	0.41899	0	.	.	5.54	3.27	0.36580	3.740000	0.54802	3.666000	0.39422	0.756000	0.94297	1.000000	0.71638	0.998000	0.33993	0.998000	0.85391	0.8671:0.0:0.1329:0.0	9.432	0.37778	763	0.50172	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	376.43	195	chr15	34063186	.	A	G	376.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-5.955;DP=541;ExcessHet=0;FS=143.78;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=1.93;ReadPosRankSum=1.86;SOR=7.275	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:158,37:195:99:0|1:34063186_A_G:388,0,5796:34063186	9	0	1	0
chr15	40356171	40356171	T	0	exonic	PHGR1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05556	1056.74	35	chr15	40356171	.	T	*	1056.74	.	AC=1;AF=0.056;AN=18;BaseQRankSum=0.866;DP=369;ExcessHet=1.5895;FS=2.651;InbreedingCoeff=-0.2903;MLEAC=1;MLEAF=0.056;MQ=60;MQRankSum=0;QD=9.88;ReadPosRankSum=-0.333;SOR=0.994	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:26,9:35:99:.:.:290,0,931:.	8	0	1	1
chr15	40356195	40356195	T	0	exonic	PHGR1	.	.	.	.	539	674	108	8	193	317	0.0842391	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05556	744.66	35	chr15	40356195	.	T	*	744.66	.	AC=1;AF=0.056;AN=18;BaseQRankSum=1.24;DP=340;ExcessHet=0.8432;FS=1.783;InbreedingCoeff=-0.2098;MLEAC=1;MLEAF=0.056;MQ=60;MQRankSum=0;QD=8.37;ReadPosRankSum=-0.59;SOR=0.91	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:26,9:35:99:.:.:290,0,931:.	8	0	1	1
chr15	40356196	40356196	G	0	exonic	PHGR1	.	.	.	.	536	677	108	8	193	317	0.0838972	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05556	744.66	35	chr15	40356196	.	G	*	744.66	.	AC=1;AF=0.056;AN=18;BaseQRankSum=2.15;DP=335;ExcessHet=0.8432;FS=1.783;InbreedingCoeff=-0.2098;MLEAC=1;MLEAF=0.056;MQ=60;MQRankSum=0;QD=8.37;ReadPosRankSum=-0.309;SOR=0.91	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:26,9:35:99:.:.:290,0,931:.	8	0	1	1
chr15	40356197	40356197	G	0	exonic	PHGR1	.	.	.	.	535	678	108	8	193	317	0.0837838	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05556	722.66	35	chr15	40356197	.	G	*	722.66	.	AC=1;AF=0.056;AN=18;BaseQRankSum=-1.122;DP=336;ExcessHet=0.8432;FS=1.844;InbreedingCoeff=-0.2098;MLEAC=1;MLEAF=0.056;MQ=60;MQRankSum=0;QD=8.21;ReadPosRankSum=-0.038;SOR=1.002	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:26,9:35:99:.:.:290,0,931:.	8	0	1	1
chr15	41505926	41505926	C	T	exonic	LTK	.	nonsynonymous SNV	LTK:NM_206961:exon11:c.G1438A:p.V480I,LTK:NM_002344:exon12:c.G1621A:p.V541I	.	397	1119	6	0	0	6	0.0026738	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.684	0.0471927391127	0.0012	0.000399361	0.0013	0.0002	0.0004	0	0.0018	0.0020	0	0	0.001229	190	154602	rs144319704	0.0013	0.0013	0.0013	0.0012	0.0014	0.0012	0.0012	0.0012	0.0011	2.987e-05	0.0008	0.0119	0	0.0008	0.0014	0.0012	0.0016	3.479e-05	0.0012	0.0012	0.0012	0.0012	0.0016	0.0010	0.0010	0.0013	0.0012	0.0002	0	0.0003	0.0130	0	0.0009	0	0.0016	0.0019	0	0.019	0.53900	D	0.005	0.72224	D	0.996	0.68779	D	0.922	0.70672	D	0.007448	0.31390	U	0.000000	1	0.81001	D	2.735	0.79925	M	-2.42	0.88611	D	-0.93	0.24898	N	0.449	0.55626	0.874	0.95333	D	0.837	0.94560	D	10	0.012692004	0.00272	T	0.047193	0.62810	D	0.684	0.88443	.	.	0.833424145843	0.83183	0.13691158332110695	0.13615	0.488308427124	0.47636	0.365865945816	0.20237	T	0.309446	0.72750	T	-0.153811	0.27718	T	-0.0290935	0.68428	D	0.0592762273416298	0.07053	T	0.908809	0.73814	D	0.2503465	0.48036	0.19271381	0.42801	0.2503465	0.48036	0.19271381	0.42800	-8.573	0.66270	D	.	.	0.306	0.56218	B	.;.;.	.;.;.	4.017165	0.59304	24.1	0.9988953304992908	0.96359	0.90939	0.52548	D	AEFDGBHCI	0.797683	0.72445	D	0.808156823627318	0.86614	8.942	0.74728906597532	0.85955	8.73721	0.999999999999928	0.74766	0.59774	0.34471	0	0.627178	0.54094	0	0.596491	0.31596	0	0.586402	0.36253	0	.	.	4.9	4.9	0.63643	7.644000	0.82556	2.813000	0.34919	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.991000	0.66497	0.0:1.0:0.0:0.0	17.901	0.88819	200	0.92234	.;Serine-threonine/tyrosine-protein kinase, catalytic domain|Protein kinase, ATP binding site|Protein kinase domain|Tyrosine-protein kinase, catalytic domain;Serine-threonine/tyrosine-protein kinase, catalytic domain|Protein kinase, ATP binding site|Protein kinase domain|Tyrosine-protein kinase, catalytic domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1	2615.14	103	chr15	41505926	.	C	T	2615.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=0.828;DP=510;ExcessHet=0.2348;FS=0.502;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=11.83;ReadPosRankSum=-0.225;SOR=0.754	GT:AD:DP:GQ:PL	0/1:49,54:103:99:1438,0,1299	8	0	2	0
chr15	41527268	41527268	G	A	exonic	RPAP1	.	nonsynonymous SNV	RPAP1:NM_015540:exon13:c.C1645T:p.R549C	.	426	1084	10	2	0	14	0.00641613	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.451	.	0.0043	0.00279553	0.0049	0.0024	0.0009	0	0.0135	0.0057	0.0078	0.0050	0.0050646	783	154602	rs35981448	0.0069	0.0069	0.0071	0.0068	0.0077	0.0068	0.0068	0.0076	0.0075	0.0015	0.0017	0.0005	0.0002	0.0136	0.0017	0.0077	0.0047	0.0042	0.0057	0.0057	0.0050	0.0063	0.0072	0.0054	0.0052	0.0067	0.0065	0.0017	0	0.0059	0.0020	0.0004	0.0155	0	0.0072	0.0043	0.0052	0.001	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	2.995	0.85803	M	2.03	0.20959	T	-5.84	0.90060	D	0.788	0.82964	-1.0623	0.11190	T	0.084	0.32900	T	10	0.011555076	0.00252	T	.	.	.	0.451	0.75143	.	.	0.470237251169	0.46650	0.7451716067819921	0.74463	0.874456839101	0.69516	0.557950854301	0.46978	T	0.212947	0.57413	T	-0.0764907	0.40283	T	0.126745	0.78679	D	0.03742197976602	0.03230	T	0.963804	0.88706	D	0.65940577	0.75867	0.4634589	0.68853	0.65940577	0.75868	0.4634589	0.68854	-5.435	0.41255	T	.	.	0.215	0.47228	B	.;.	.;.	5.385646	0.90245	31	0.99945488405638039	0.99886	0.97276	0.73739	D	AEFGBI	0.783400	0.71439	D	0.774964372576619	0.84518	8.310104	0.745527527574711	0.85821	8.696905	0.978984652333104	0.29978	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.35	5.35	0.76297	6.154000	0.71621	8.647000	0.77918	0.662000	0.56354	1.000000	0.71638	1.000000	0.68203	0.869000	0.41347	0.0:0.0:0.8466:0.1534	13.834	0.62894	199	0.92292	.;.	.	.	.	.	rs35981448	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.007049	0.010101	0.002717	0.002924	0.000000	0.008621	0.015244	0.011364	0.05	1954.43	133	chr15	41527268	.	G	A	1954.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=4.01;DP=961;ExcessHet=0;FS=1.385;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.69;ReadPosRankSum=-0.909;SOR=0.559	GT:AD:DP:GQ:PL	0/1:67,66:133:99:1966,0,1579	9	0	1	0
chr15	43203222	43203222	C	T	exonic	EPB42	.	nonsynonymous SNV	EPB42:NM_000119:exon11:c.G1762A:p.E588K,EPB42:NM_001114134:exon11:c.G1672A:p.E558K	Spherocytosis, type 5	.	.	.	.	.	.	.	.	.	.	703214	not_provided|Hereditary_spherocytosis_type_5	MedGen:C3661900|MONDO:MONDO:0012985,MedGen:C2675192,OMIM:612690,Orphanet:822	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.024	0.00733692983321	0.0025	0.000998403	0.0005	0.0054	8.639e-05	0.0001	0	4.495e-05	0	0	0.0004592	71	154602	rs75424023	0.0002	0.0002	0.0002	0.0002	0.0060	0.0002	0.0002	0.0053	0.0050	0.0060	0.0002	0	7.557e-05	1.872e-05	0	4.227e-05	0.0002	5.797e-05	0.0012	0.0012	0.0013	0.0011	0.0041	0.0010	0.0010	0.0036	0.0034	0.0041	0	0.0002	0	0	0	0	7.354e-05	0.0014	0	0.08	0.33585	T	0.06	0.45744	T	0.676	0.42412	P	0.076	0.32546	B	0.041881	0.23902	N	0.476023	0.99938	0.21275	N	2.215	0.62545	M	1.31	0.35405	T	-2.79	0.59059	D	0.36	0.41459	-1.0545	0.13172	T	0.040	0.17191	T	10	0.0074884295	0.00170	T	0.007337	0.19469	T	0.024	0.04979	.	.	0.279370189704	0.27548	0.7350089276239322	0.73445	.	.	0.382435381413	0.22602	T	0.389626	0.75001	T	-0.481845	0.00721	T	-0.464098	0.26153	T	0.0100504414322711	0.00135	T	0.865813	0.56549	D	0.13628484	0.31599	0.16645329	0.38454	0.13628484	0.31599	0.16645329	0.38453	-5.408	0.40996	T	0.33819964212153153	0.43606	0.104	0.18663	B	.;.;.;.;.	.;.;.;.;.	1.788566	0.22740	15.74	0.99219969507383554	0.55870	0.04874	0.10615	N	AEFBCI	0.091686	0.18569	N	-0.544844751481857	0.20646	1.089876	-0.61093982256212	0.19212	1.029776	0.769757097374112	0.23652	0.446893	0.09132	0	0.547309	0.14657	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	4.94	1.97	0.25278	0.147000	0.16021	2.115000	0.30684	0.599000	0.40250	0.025000	0.20085	0.972000	0.29809	0.776000	0.36750	0.0:0.6224:0.182:0.1956	4.621	0.11837	17	0.98681	.;.;Transglutaminase, C-terminal;Transglutaminase, C-terminal;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001007	0.000000	0.001359	0.000000	0.000000	0.000000	0.003049	0.000000	0.1	4268.14	172	chr15	43203222	.	C	T	4268.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=1.98;DP=598;ExcessHet=0.2348;FS=4.348;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=13.34;ReadPosRankSum=-0.367;SOR=0.505	GT:AD:DP:GQ:PL	0/1:73,99:172:99:2471,0,1557	8	0	2	0
chr15	43276517	43276517	T	C	exonic	TGM7	.	nonsynonymous SNV	TGM7:NM_052955:exon13:c.A2071G:p.N691D	.	427	1060	32	3	0	38	0.0176089	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.057	0.0110741932648	0.0013	0.000599042	0.0018	0.0003	0.0007	0	0	0.0013	0.0033	0.0070	0.0015912	246	154602	rs148274809	0.0012	0.0012	0.0009	0.0015	0.0074	0.0012	0.0011	0.0069	0.0067	0.0001	0.0006	0.0072	0	1.872e-05	0.0049	0.0007	0.0016	0.0074	0.0009	0.0009	0.0007	0.0012	0.0066	0.0008	0.0008	0.0048	0.0042	4.812e-05	0	0.0005	0.0075	0	0	0	0.0010	0.0024	0.0066	0.186	0.21467	T	0.79	0.04194	T	0.003	0.11197	B	0.007	0.12992	B	0.336328	0.14033	N	0.687321	0.950522	0.26502	N	0.94	0.23649	L	-0.19	0.65931	T	-0.05	0.07736	N	0.125	0.11769	-0.9927	0.31906	T	0.122	0.42441	T	10	0.008257538	0.00187	T	0.011074	0.28311	T	0.057	0.16321	.	.	0.504541157375	0.50091	0.20277597614394124	0.20194	0.125134286109	0.14108	0.292968094349	0.09356	T	0.002334	0.01729	T	-0.513387	0.00480	T	-0.505936	0.21734	T	0.00804675839246853	0.00095	T	0.50325	0.15827	T	0.06925533	0.15157	0.11332693	0.27349	0.06925533	0.15157	0.11332693	0.27348	-4.53	0.31279	T	.	.	0.066	0.02145	B	.	.	2.028569	0.25781	16.89	0.99122840336513984	0.53037	0.75492	0.36965	D	AEFGBI	0.186831	0.31413	N	-0.556584102761625	0.20277	1.067798	-0.392685172500893	0.25214	1.385265	0.996622662179455	0.34876	0.554377	0.28877	0	0.588066	0.40923	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	4.47	3.3	0.36912	1.317000	0.33237	0.629000	0.20209	0.609000	0.47794	0.957000	0.33433	0.428000	0.24841	0.993000	0.69303	0.0:0.0963:0.0:0.9037	8.539	0.32540	15	0.98792	Transglutaminase, 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	0.006546	0.000000	0.002717	0.005848	0.000000	0.025862	0.009146	0.007576	0.1	2844.14	106	chr15	43276517	.	T	C	2844.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-0.589;DP=487;ExcessHet=0.2348;FS=0;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=13.42;ReadPosRankSum=0.227;SOR=0.686	GT:AD:DP:GQ:PL	0/1:55,51:106:99:1245,0,1499	8	0	2	0
chr15	43328770	43328770	A	G	exonic	LCMT2	.	nonsynonymous SNV	LCMT2:NM_014793:exon1:c.T1720C:p.W574R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.798	0.119139338333	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	0.56456	D	0.023	0.57104	D	1.0	0.90584	D	0.997	0.86255	D	0.000000	0.84330	D	0.000000	0.999987	0.81001	D	2.995	0.85803	M	-1.56	0.81815	D	-4.07	0.74661	D	0.74	0.74007	0.112	0.84384	D	0.639	0.87360	D	10	0.8170707	0.80937	D	0.119139	0.79936	D	0.798	0.93385	0.611	0.74418	0.811391519615	0.80961	0.8167274304381671	0.81628	0.888851575013	0.70127	0.669919312	0.62826	T	0.313041	0.68482	T	0.398537	0.89830	D	0.334695	0.89702	D	0.992910087108612	0.83527	D	0.381762	0.09261	T	0.7278842	0.79604	0.6344337	0.78663	0.7278842	0.79606	0.6344337	0.78663	-8.643	0.65372	D	.	.	0.965	0.88679	P	.	.	4.964063	0.82096	27.7	0.9957431335035144	0.72621	0.95960	0.66903	D	AEFBCI	0.739003	0.68370	D	0.630056224660624	0.75084	6.243875	0.629511176830476	0.77093	6.613429	0.999999998511047	0.74766	0.631515	0.41029	0	0.672317	0.65289	0	0.697927	0.64325	0	0.592323	0.36904	0	.	.	5.46	5.46	0.80021	5.499000	0.66654	11.235000	0.90242	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.990000	0.65344	1.0:0.0:0.0:0.0	13.494	0.60866	15	0.98792	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1	3840.14	130	chr15	43328770	.	A	G	3840.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=0.08;DP=651;ExcessHet=0.2348;FS=2.607;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=13.91;ReadPosRankSum=1.79;SOR=0.637	GT:AD:DP:GQ:PL	0/1:50,80:130:99:2045,0,1382	8	0	2	0
chr15	45187888	45187888	C	T	exonic	SHF	.	nonsynonymous SNV	SHF:NM_001301168:exon1:c.G64A:p.G22R,SHF:NM_001301169:exon1:c.G64A:p.G22R,SHF:NM_001301170:exon1:c.G64A:p.G22R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.490909397921	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	2.736e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.003	0.76473	D	.	.	.	.	.	.	.	.	.	.	0.844617	0.81001	D	.	.	.	0.64	0.94904	T	-0.13	0.08971	N	0.188	0.23125	.	.	.	.	.	.	.	0.2567356	0.43081	T	0.490909	0.94997	D	.	.	.	.	0.898918641686	0.89791	.	.	.	.	.	.	.	0.043862	0.26635	T	0.0956241	0.63816	D	-0.100419	0.63365	T	.	.	.	0.647135	0.25820	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.399	0.61602	A	.;.;.	.;.;.	2.725470	0.35659	19.96	0.99640485993422889	0.76633	0.09514	0.15253	N	AEFDBHCIJ	0.138574	0.25991	N	.	.	.	.	.	.	0.999999999735055	0.74766	0.65757	0.49021	0	0.218748	0.04544	0	0.619478	0.44681	0	0.554799	0.18163	0	.	.	2.85	2.85	0.32333	1.960000	0.40046	6.651000	0.56216	0.446000	0.21189	0.051000	0.21449	1.000000	0.68203	0.243000	0.23080	0.0:1.0:0.0:0.0	9.456	0.37918	616	0.66398	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1	33.01	2	chr15	45187888	.	C	T	33.01	.	AC=2;AF=0.1;AN=20;DP=37;ExcessHet=0;FS=0;InbreedingCoeff=0.4979;MLEAC=1;MLEAF=0.05;MQ=60;QD=16.51;SOR=0.693	GT:AD:DP:GQ:PL	1/1:0,2:2:6:49,6,0	9	1	0	0
chr15	52205018	52205018	C	T	exonic	MYO5C	.	nonsynonymous SNV	MYO5C:NM_018728:exon38:c.G4667A:p.S1556N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.390	0.0373077975676	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.917	0.02327	T	0.604	0.07842	T	0.046	0.21875	B	0.034	0.22546	B	0.000002	0.62929	D	0.097222	0.99669	0.43358	D	1.545	0.39105	L	-2.26	0.87352	D	0.03	0.06612	N	0.301	0.34012	-0.4295	0.71083	T	0.427	0.77042	T	10	0.18046805	0.33231	T	0.037308	0.57535	D	0.390	0.70603	0.44	0.49484	0.669235589889	0.66644	0.48699710006802066	0.48619	0.554508955385	0.52192	0.668217897415	0.62584	T	0.030222	0.21474	T	0.0150244	0.53708	T	-0.216195	0.53102	T	0.815968871116638	0.47475	D	0.776822	0.40920	T	0.20864058	0.43107	0.12857547	0.30932	0.20864058	0.43107	0.12857547	0.30932	-3.898	0.22273	T	.	.	0.163	0.35992	B	.	.	2.663841	0.34712	19.70	0.95309790869695898	0.26641	0.92092	0.54927	D	AEFGBI	0.447014	0.50283	N	-0.312428458498868	0.28674	1.583626	-0.115825100656975	0.34752	2.002564	0.995965489645034	0.34438	0.706548	0.73137	0	0.588066	0.40923	0	0.724815	0.87919	0	0.491896	0.07777	0	.	.	4.66	4.66	0.57857	2.429000	0.44415	4.055000	0.41540	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:1.0:0.0:0.0	18.088	0.89392	261	0.89765	Dilute domain|Myosin 5c, cargo-binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1456.43	124	chr15	52205018	.	C	T	1456.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.451;DP=435;ExcessHet=0;FS=1.436;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.75;ReadPosRankSum=-0.088;SOR=0.536	GT:AD:DP:GQ:PL	0/1:65,59:124:99:1468,0,1928	9	0	1	0
chr15	59618450	59618450	C	G	exonic	GCNT3	.	stopgain	GCNT3:NM_004751:exon3:c.C212G:p.S71X	.	425	1090	7	0	0	7	0.00320073	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0012	0.000399361	0.0012	0.0004	0.0011	0	0.0003	0.0015	0.0033	0.0013	0.001229	190	154602	rs138620928	0.0017	0.0017	0.0017	0.0018	0.0020	0.0017	0.0016	0.0019	0.0019	0.0005	0.0010	0.0006	0	0.0001	0.0009	0.0020	0.0016	0.0013	0.0014	0.0014	0.0015	0.0014	0.0023	0.0013	0.0012	0.0020	0.0019	0.0004	0	0.0021	0.0003	0	9.423e-05	0	0.0023	0.0009	0.0012	.	.	.	.	.	.	.	.	.	.	.	.	0.008210	0.30959	N	0.313430	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.199	0.21969	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.301626	0.83098	D	0.655873	0.98747	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;Recessive|Recessive;Recessive|Recessive;.	.;High|High;High|High;.	8.260973	0.97357	37	0.99511947241223164	0.68678	0.99078	0.90902	D	AEFBI	0.092318	0.18690	N	1.00680970283593	0.95950	14.13746	0.836821353762288	0.92224	11.30429	0.99999999998987	0.74766	0.446893	0.09132	0	0.547309	0.14657	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	6.16	6.16	0.99302	4.377000	0.59330	7.657000	0.64017	0.599000	0.40250	0.999000	0.42656	1.000000	0.68203	0.078000	0.17132	0.0:1.0:0.0:0.0	20.860	0.99763	897	0.25382	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001511	0.000000	0.000000	0.000000	0.000000	0.000000	0.006098	0.003788	0.1	2556.14	128	chr15	59618450	.	C	G	2556.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=2.51;DP=493;ExcessHet=0.2348;FS=4.882;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=12.47;ReadPosRankSum=1.3;SOR=1.027	GT:AD:DP:GQ:PL	0/1:67,61:128:99:1671,0,1998	8	0	2	0
chr15	61945803	61945803	G	A	exonic	VPS13C	.	nonsynonymous SNV	VPS13C:NM_017684:exon43:c.C4931T:p.A1644V,VPS13C:NM_018080:exon43:c.C4931T:p.A1644V,VPS13C:NM_001018088:exon45:c.C5060T:p.A1687V,VPS13C:NM_020821:exon45:c.C5060T:p.A1687V	Parkinson disease 23, autosomal recessive, early onset, Autosomal recessive	432	1055	33	2	0	37	0.0172333	.	.	.	714522	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.035	.	0.0018	0.00399361	0.0037	0.0008	0.0010	0.0002	0.0012	0.0033	0.0044	0.0116	0.0032988	510	154602	rs114089496	0.0032	0.0032	0.0030	0.0035	0.0113	0.0032	0.0031	0.0107	0.0105	0.0005	0.0013	0.0005	5.047e-05	0.0010	0.0092	0.0030	0.0031	0.0113	0.0020	0.0020	0.0019	0.0021	0.0108	0.0018	0.0017	0.0084	0.0076	0.0005	0	0.0015	0.0006	0.0002	0.0011	0.0102	0.0027	0.0038	0.0108	0.294	0.49117	T	.	.	.	0.038	0.23455	B	0.066	0.30313	B	0.064746	0.21930	N	0.499217	0.976149	0.25392	N	2.215	0.62545	M	0.94	0.43672	T	-0.98	0.26639	N	0.096	0.24260	-0.9987	0.30283	T	0.108	0.39075	T	10	0.006000012	0.00135	T	.	.	.	0.035	0.08770	.	.	0.476908202251	0.47319	0.324965648843083	0.32409	0.0267110625273	0.02732	0.328295946121	0.14677	T	0.021808	0.16921	T	-0.563124	0.00243	T	-0.57227	0.15243	T	0.00707998729020647	0.00081	T	0.90161	0.65783	D	0.030280372	0.02663	0.053890113	0.09165	0.031328395	0.02953	0.048879843	0.07353	-4.258	0.29880	T	0.26190785582347703	0.35351	0.086	0.10883	B	.;.;.;.;.;.	.;.;.;.;.;.	1.867846	0.23728	16.13	0.9957987310565598	0.72921	0.48904	0.28312	N	AEFBI	0.137811	0.25891	N	-0.28019721746193	0.29914	1.663151	-0.1814191148143	0.32219	1.830927	0.0667973363825362	0.15405	0.706548	0.73137	0	0.724815	0.89359	0	0.618467	0.43123	0	0.714379	0.83352	0	.	.	5.44	4.5	0.54382	2.169000	0.42061	3.638000	0.39337	0.618000	0.50648	0.312000	0.25432	0.610000	0.25763	0.996000	0.76049	0.076:0.2944:0.6296:0.0	8.991	0.35187	892	0.26670	.;.;.;.;.;.	.	.	.	.	.	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	0.005539	0.000000	0.004076	0.005848	0.000000	0.000000	0.009146	0.011364	0.05	1219.43	107	chr15	61945803	.	G	A	1219.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.58;DP=421;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.4;ReadPosRankSum=-0.838;SOR=0.732	GT:AD:DP:GQ:PL	0/1:54,53:107:99:1231,0,1387	9	0	1	0
chr15	62164783	62164783	C	G	exonic	C2CD4B	.	nonsynonymous SNV	C2CD4B:NM_001007595:exon2:c.G202C:p.A68P	.	421	1013	82	6	0	94	0.0443396	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.297	.	0.0036	0.0139776	0.0439	0.0102	0.0222	0	0.0455	0.0300	0.0323	0.0540	0.0054656	845	154602	rs146941362	0.0098	0.0096	0.0089	0.0107	0.0407	0.0097	0.0096	0.0395	0.0390	0.0021	0.0047	0.0178	0.0004	0.0038	0.0368	0.0082	0.0114	0.0407	0.0069	0.0069	0.0066	0.0072	0.0415	0.0065	0.0064	0.0368	0.0350	0.0027	0.0077	0.0052	0.0173	0.0010	0.0045	0.0171	0.0075	0.0104	0.0415	0.263	0.16412	T	0.197	0.27855	T	0.863	0.47474	P	0.562	0.49608	P	0.717320	0.09964	U	0.841107	1	0.08975	N	1.445	0.36358	L	-3.27	0.93640	D	-1.54	0.37375	N	0.119	0.10911	-0.3071	0.74787	T	0.494	0.80816	T	10	0.002736181	0.00043	T	.	.	.	0.297	0.61730	.	.	.	.	0.08612991599421099	0.08546	1.94099853373	0.93232	0.790393352509	0.80503	T	0.006496	0.05931	T	-0.404157	0.02174	T	-0.321904	0.42365	T	0.0249916728120931	0.01272	T	0.435556	0.11926	T	0.14233036	0.32760	0.19578515	0.43275	0.14233036	0.32759	0.19578515	0.43274	-3.454	0.15794	T	.	.	0.087	0.11269	B	.	.	0.845048	0.12171	8.717	0.9855664577571297	0.42922	0.12150	0.17090	N	AEFDBCIJ	0.321505	0.42428	N	-0.642543929129143	0.17678	0.9116954	-0.842017092142143	0.13479	0.6994675	0.999950864942535	0.48110	0.59774	0.34471	0	0.596491	0.49125	0	0.378051	0.06126	2	0.581474	0.35302	0	.	.	3.25	-0.0685	0.13088	-0.595000	0.05822	-0.498000	0.08819	0.518000	0.23583	0.000000	0.06391	0.000000	0.08366	0.007000	0.07825	0.1906:0.4752:0.0:0.3342	3.087	0.05904	277	0.89083	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.027244	0.005882	0.022857	0.024242	0.000000	0.045455	0.013158	0.067460	0.1	2025.14	85	chr15	62164783	.	C	G	2025.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=0.058;DP=463;ExcessHet=0.2348;FS=5.787;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=12.82;ReadPosRankSum=-0.794;SOR=0.985	GT:AD:DP:GQ:PL	0/1:39,46:85:99:1100,0,888	8	0	2	0
chr15	65266665	65266665	T	C	exonic	PARP16	.	nonsynonymous SNV	PARP16:NM_001316943:exon3:c.A416G:p.Y139C,PARP16:NM_017851:exon3:c.A416G:p.Y139C	.	432	1089	1	0	0	1	0.000458926	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.060	0.00994066119168	.	.	.	.	.	.	.	.	.	.	.	.	.	rs770333678	2.736e-06	2.736e-06	4.084e-06	1.375e-06	0.0005	6.4e-07	4.3e-07	0.0001	7.541e-05	0	0	0	0	0	0.0005	0	0	1.159e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.12	0.27904	T	0.04	0.50809	D	0.93	0.53072	P	0.216	0.41795	B	0.038625	0.24263	N	0.459943	0.944949	0.81001	D	0	0.06538	N	2.61	0.13095	T	-1.78	0.42001	N	0.371	0.41261	-1.0504	0.14285	T	0.024	0.10284	T	10	0.20623076	0.36877	T	0.009941	0.25878	T	0.060	0.17295	0.366	0.37361	0.451977122513	0.44822	0.6483601879063161	0.64772	0.515807656185	0.49477	0.379030883312	0.22120	T	0.065103	0.32604	T	-0.22254	0.17649	T	-0.460585	0.26535	T	0.461909426115053	0.31234	T	0.914809	0.69637	D	0.27755505	0.50813	0.1842789	0.41470	0.27755505	0.50813	0.1842789	0.41469	0.293	0.00260	T	.	.	0.066	0.02091	B	.;.	.;.	3.507752	0.49109	22.7	0.99427800203963668	0.64081	0.89020	0.49241	D	AEFI	0.209946	0.33588	N	0.215505339318811	0.51951	3.372491	0.324966666712177	0.57011	3.865541	0.968211562823689	0.29035	0.732398	0.92422	0	0.743671	0.97443	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	5.58	5.58	0.84361	3.423000	0.52517	3.476000	0.38615	0.645000	0.52629	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:0.16:0.84	11.560	0.50023	564	0.70960	.;Poly(ADP-ribose) polymerase, catalytic domain|Poly(ADP-ribose) polymerase, catalytic domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	782.43	77	chr15	65266665	.	T	C	782.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.259;DP=389;ExcessHet=0;FS=0.876;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.16;ReadPosRankSum=-0.577;SOR=0.841	GT:AD:DP:GQ:PL	0/1:46,31:77:99:794,0,1274	9	0	1	0
chr15	65691296	65691296	T	G	exonic	DENND4A	.	nonsynonymous SNV	DENND4A:NM_001376920:exon21:c.A3166C:p.I1056L,DENND4A:NM_001376919:exon22:c.A3166C:p.I1056L,DENND4A:NM_005848:exon22:c.A3166C:p.I1056L,DENND4A:NM_001144823:exon23:c.A3295C:p.I1099L,DENND4A:NM_001320835:exon23:c.A3298C:p.I1100L	.	431	1090	1	0	0	1	0.000458505	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.069	0.00336841316767	8.5e-05	.	2.514e-05	0	0	0	0	4.548e-05	0	0	1.94e-05	3	154602	rs372043519	4.38e-05	4.378e-05	4.222e-05	4.541e-05	0.0007	3.511e-05	3.195e-05	0.0002	0.0001	0	0	0	0	0	0.0007	4.768e-05	0.0001	0	4.599e-05	4.596e-05	6.423e-05	2.689e-05	8.821e-05	2.109e-05	1.527e-05	3.762e-05	2.575e-05	2.412e-05	0	0	0	0	0	0	8.821e-05	0	0	0.039	0.42487	D	1.0	0.01155	T	0.0	0.02946	B	0.001	0.04355	B	0.169605	0.17414	N	0.578011	0.887412	0.29764	N	1.795	0.47270	L	3.51	0.04959	T	-0.07	0.08033	N	0.351	0.39254	-1.0324	0.19681	T	0.015	0.06042	T	10	0.14177126	0.26935	T	0.003368	0.07542	T	0.069	0.20116	0.656	0.79379	0.282179105231	0.27821	0.29439488876488223	0.29352	0.090661905353	0.10232	0.313295722008	0.12405	T	0.017513	0.14276	T	-0.271432	0.11597	T	-0.520013	0.20293	T	0.40832793712616	0.29255	T	0.871313	0.57716	D	0.13907866	0.32140	0.12586878	0.30323	0.13907866	0.32140	0.12586878	0.30322	-2.887	0.09406	T	.	.	0.101	0.18991	B	.;.;.	.;.;.	3.357768	0.46347	22.3	0.97171115797481489	0.32678	0.98714	0.85918	D	AEFBI	0.453193	0.50643	N	-0.217963407289513	0.32396	1.826605	-0.0411291084470815	0.37877	2.223717	0.999999572311808	0.74766	0.722319	0.85440	0	0.698795	0.70079	0	0.618467	0.43123	0	0.714379	0.83352	0	.	.	4.81	4.81	0.61401	6.674000	0.74324	6.102000	0.53564	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:0.0:0.0:1.0	14.814	0.69641	693	0.58582	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	2459.43	170	chr15	65691296	.	T	G	2459.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.7;DP=491;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.47;ReadPosRankSum=1.29;SOR=0.69	GT:AD:DP:GQ:PL	0/1:82,88:170:99:2471,0,2158	9	0	1	0
chr15	66326260	66326260	C	G	exonic	DIS3L	.	nonsynonymous SNV	DIS3L:NM_001323937:exon11:c.C1719G:p.S573R,DIS3L:NM_001323940:exon11:c.C987G:p.S329R,DIS3L:NM_001323943:exon11:c.C987G:p.S329R,DIS3L:NM_001323948:exon11:c.C1917G:p.S639R,DIS3L:NM_001143688:exon12:c.C2097G:p.S699R,DIS3L:NM_001323936:exon12:c.C1848G:p.S616R,DIS3L:NM_001323938:exon12:c.C1695G:p.S565R,DIS3L:NM_001323941:exon12:c.C1695G:p.S565R,DIS3L:NM_001323944:exon12:c.C2046G:p.S682R,DIS3L:NM_001323945:exon12:c.C1848G:p.S616R,DIS3L:NM_001323946:exon12:c.C1695G:p.S565R,DIS3L:NM_133375:exon12:c.C1848G:p.S616R,DIS3L:NM_001323939:exon13:c.C1695G:p.S565R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025	0.00807237602779	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.37e-06	7.595e-05	1.363e-06	1.376e-06	1.801e-06	2.3e-07	9e-08	3e-07	1.1e-07	0	0	0	0	0	0	1.801e-06	0	0	0	1.315e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.155	0.25355	T	0.353	0.17320	T	0.029	0.19866	B	0.033	0.22329	B	0.055829	0.22610	N	0.539436	0.999548	0.47497	D	-0.285	0.03692	N	1.3	0.35590	T	-1.92	0.44657	N	0.196	0.22228	-1.0764	0.08063	T	0.043	0.18618	T	10	0.08429423	0.14113	T	0.008072	0.21393	T	0.025	0.05312	0.424	0.46857	0.500994481783	0.49735	0.48282530288770603	0.48202	0.189759959303	0.21295	0.441389143467	0.30767	T	0.019826	0.15725	T	-0.2058	0.19975	T	-0.533394	0.18948	T	0.371591597795486	0.27858	T	0.811819	0.46320	T	0.13266377	0.30883	0.17544033	0.40009	0.13266377	0.30882	0.17544033	0.40008	-9.64	0.71728	D	.	.	0.195	0.42820	B	.;.	.;.	2.006311	0.25495	16.78	0.99354999151066503	0.60738	0.93367	0.58027	D	AEFBI	0.310496	0.41649	N	-0.52080163687102	0.21409	1.135919	-0.344169861240159	0.26690	1.475863	0.235350875039061	0.18512	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.4	2.44	0.28875	0.637000	0.24348	0.590000	0.19811	0.581000	0.30040	0.997000	0.40164	0.998000	0.33993	0.995000	0.73285	0.0:0.5695:0.1341:0.2964	5.619	0.16725	644	0.63734	.;Ribonuclease II/R|Ribonuclease II/R	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.15	266.46	90	chr15	66326260	.	C	G	266.46	.	AC=3;AF=0.15;AN=20;BaseQRankSum=-3.856;DP=743;ExcessHet=0.7463;FS=266.576;InbreedingCoeff=-0.1768;MLEAC=3;MLEAF=0.15;MQ=60;MQRankSum=0;QD=0.93;ReadPosRankSum=0.922;SOR=9.289	GT:AD:DP:GQ:PL	0/1:64,26:90:99:178,0,1469	7	0	3	0
chr15	75351353	75351353	G	A	exonic	NEIL1	.	nonsynonymous SNV	NEIL1:NM_001352519:exon3:c.G152A:p.C51Y	.	440	1079	3	0	0	3	0.00138825	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0010	0	0	0	.	0.0021	0.0104	0.0006	9.06e-05	14	154602	rs760526659	0.0003	0.0001	0.0003	0.0003	0.0004	0.0002	0.0002	0.0003	0.0002	0	9.43e-05	0.0027	0	0	0	0.0002	0.0002	0.0004	0.0001	0.0001	0.0001	0.0001	0.0002	7.733e-05	6.372e-05	5.986e-05	4.343e-05	2.667e-05	0	0.0002	0.0015	0	0	0.0041	0.0001	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	357.43	31	chr15	75351353	.	G	A	357.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.502;DP=307;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.53;ReadPosRankSum=-0.675;SOR=0.507	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:17,14:31:99:0|1:75351353_G_A:369,0,512:75351353	9	0	1	0
chr15	77470925	77470925	G	C	exonic	HMG20A	.	nonsynonymous SNV	HMG20A:NM_001304504:exon5:c.G466C:p.A156P,HMG20A:NM_001304505:exon5:c.G127C:p.A43P,HMG20A:NM_018200:exon6:c.G466C:p.A156P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.926	0.36457501465	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0017	0.0063	0.0018	0.0016	0.0020	0.0016	0.0016	0.0019	0.0019	0.0015	7.544e-05	0.0004	0.0003	1.886e-05	0.0013	0.0020	0.0012	0.0005	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	1	0.81001	D	4.49	0.98946	H	-3.87	0.95922	D	-4.76	0.80340	D	0.951	0.95956	1.083	0.98998	D	0.959	0.98660	D	10	0.8971046	0.90150	D	0.364575	0.92596	D	0.926	0.98192	0.642	0.77903	0.968703745723	0.96836	0.8872671032323289	0.88695	1.50727079688	0.87154	0.880620002747	0.94044	D	0.900783	0.98052	D	0.576488	0.96944	D	0.590309	0.96894	D	0.999476850032806	0.97549	D	0.962604	0.86052	D	0.9461271	0.95872	0.9591841	0.98928	0.9461271	0.95872	0.9591841	0.98928	-15.627	0.97148	D	.	.	1.000	0.99585	P	.;.;.;.	.;.;.;.	6.308495	0.94988	34	0.99786623120083784	0.87308	0.99689	0.98687	D	AEFGBI	0.951203	0.96554	D	1.13537706431312	0.98738	19.20727	1.06046795470621	0.99493	23.16804	0.9999999999968	0.74766	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.88	5.88	0.94564	9.602000	0.97623	11.852000	0.98107	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:1.0:0.0	20.219	0.98314	0	0.99858	High mobility group box domain|High mobility group box domain|High mobility group box domain;High mobility group box domain|High mobility group box domain|High mobility group box domain;High mobility group box domain|High mobility group box domain|High mobility group box domain;High mobility group box domain|High mobility group box domain|High mobility group box domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1	37.26	75	chr15	77470925	.	G	C	37.26	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-2.562;DP=393;ExcessHet=0.2348;FS=385.528;InbreedingCoeff=-0.1105;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=0.28;ReadPosRankSum=1.44;SOR=8.189	GT:AD:DP:GQ:PL	0/1:56,19:75:13:13,0,1255	8	0	2	0
chr15	78764670	78764670	G	A	exonic	ADAMTS7	.	nonsynonymous SNV	ADAMTS7:NM_014272:exon20:c.C4304T:p.P1435L	.	867	653	2	0	0	2	0.00152905	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.024	0.00811081495837	0.0007	0.00179712	0.0014	0.0046	0	0	0	2.771e-05	0	0.0092	0.0007438	115	154602	rs201848559	0.0004	0.0004	0.0003	0.0005	0.0042	0.0004	0.0004	0.0037	0.0036	0.0042	2.466e-05	0	0	0	0.0012	0.0001	0.0006	0.0041	0.0010	0.0010	0.0011	0.0010	0.0033	0.0009	0.0008	0.0027	0.0025	0.0031	0	0.0003	0	0	0	0	8.821e-05	0.0005	0.0033	0.312	0.13925	T	0.393	0.15355	T	0.002	0.09854	B	0.002	0.06944	B	0.540777	0.11539	N	0.785759	1	0.08975	N	0.21	0.09513	N	0.67	0.52187	T	-1.23	0.31170	N	0.047	0.01911	-1.0285	0.20940	T	0.061	0.25492	T	10	0.008200526	0.00186	T	0.008111	0.21495	T	0.024	0.04979	.	.	0.170165803431	0.16609	0.23361761247003526	0.23276	0.168445223863	0.18995	0.589950799942	0.51487	T	0.015269	0.12843	T	-0.61551	0.00117	T	-0.657434	0.08441	T	0.00425875675228196	0.00045	T	0.152885	0.01311	T	0.044275615	0.07050	0.04636494	0.06445	0.044275615	0.07050	0.04636494	0.06445	-8.294	0.63055	D	.	.	0.071	0.03773	B	.	.	0.258944	0.06375	2.841	0.85616400970196449	0.16004	0.22603	0.21802	N	AEFDBHCI	0.157153	0.28261	N	-0.974067704878724	0.09161	0.4323895	-0.9404614091418	0.11145	0.5659966	0.999999363957493	0.74766	0.712529	0.81865	0	0.588066	0.40923	0	0.635938	0.45252	0	0.613276	0.41899	0	.	.	4.47	2.54	0.29674	1.291000	0.32936	-0.080000	0.12189	-1.236000	0.01320	0.002000	0.15269	0.000000	0.08366	0.001000	0.02609	0.1992:0.0:0.8008:0.0	8.524	0.32454	499	0.76092	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.006818	0.000000	0.012363	0.004386	0.000000	0.000000	0.003448	0.000000	0.05	63.44	18	chr15	78764670	.	G	A	63.44	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.96;DP=165;ExcessHet=0;FS=0;InbreedingCoeff=-0.0537;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=3.52;ReadPosRankSum=-1.558;SOR=0.743	GT:AD:DP:GQ:PL	0/1:15,3:18:75:75,0,363	9	0	1	0
chr15	78766678	78766678	-	A	exonic	ADAMTS7	.	frameshift insertion	ADAMTS7:NM_014272:exon19:c.3232dupT:p.Y1078Lfs*5	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0192	.	0.0159	0.0060	0.0379	0.0011	0.0039	0.0204	0.0094	0.0018	0.0009605	25	26028	rs778557910	0.0001	0.0010	0.0001	0.0001	0.0004	0.0001	0.0001	0.0003	0.0003	8.984e-05	0.0001	7.673e-05	0.0004	0.0001	0	0.0001	0.0001	0.0004	0.0003	0.0021	0.0002	0.0003	0.0005	0.0002	0.0002	0.0002	0.0002	9.64e-05	0	0.0005	0.0003	0.0002	0.0002	0	0.0003	0.0005	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.006834	0.025316	0.004121	0.021368	0.000000	0.000000	0.003448	0.004132	0.1	300.1	90	chr15	78766678	.	T	TA	300.1	.	AC=2;AF=0.1;AN=20;BaseQRankSum=2.77;DP=495;ExcessHet=0.2348;FS=23.736;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=57.97;MQRankSum=-8.458;QD=1.66;ReadPosRankSum=0.281;SOR=2.94	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:83,7:90:36:0|1:78766678_T_TA:36,0,3406:78766678	8	0	2	0
chr15	81322461	81322461	C	T	exonic	STARD5	.	nonsynonymous SNV	STARD5:NM_181900:exon3:c.G229A:p.V77M	.	429	1088	5	0	0	5	0.00229253	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.071	0.0597360022304	0.0057	0.00199681	0.0053	0.0015	0.0043	0	0.0080	0.0076	0.0099	0.0008	0.0055239	854	154602	rs138923627	0.0072	0.0072	0.0073	0.0072	0.0085	0.0071	0.0070	0.0083	0.0083	0.0013	0.0019	0.0040	0	0.0083	0.0026	0.0085	0.0059	0.0010	0.0049	0.0049	0.0052	0.0045	0.0084	0.0046	0.0045	0.0078	0.0076	0.0017	0.0022	0.0010	0.0061	0	0.0054	0	0.0084	0.0019	0.0002	0.098	0.30800	T	0.101	0.38596	T	0.444	0.35956	B	0.055	0.25995	B	0.592850	0.11032	N	0.826633	1	0.08975	N	1.385	0.34509	L	-1.78	0.83737	D	-0.4	0.13805	N	0.343	0.38438	-0.7375	0.58581	T	0.273	0.64515	T	10	0.010636598	0.00236	T	0.059736	0.67764	D	0.219	0.51417	.	.	0.69773716983	0.69512	0.27686567014136493	0.27599	0.196326814967	0.21991	0.3354139328	0.15750	T	0.111281	0.42665	T	-0.422162	0.01657	T	-0.368795	0.37030	T	0.00615744866149236	0.00068	T	0.875013	0.58582	D	0.15914816	0.35765	0.10459949	0.25127	0.15914816	0.35765	0.10459949	0.25126	-4.3	0.28177	T	.	.	0.128	0.27343	B	.	.	2.628235	0.34173	19.55	0.98726751472176033	0.45289	0.48765	0.28281	N	AEFDBCI	0.117195	0.22969	N	-0.248072187610428	0.31179	1.745807	-0.212073263361236	0.31101	1.757036	0.999952129943829	0.48110	0.646311	0.45356	0	0.581341	0.33841	0	0.645312	0.48771	0	0.655142	0.61905	0	.	.	5.51	3.18	0.35615	2.587000	0.45793	3.125000	0.36417	0.599000	0.40250	0.969000	0.34210	0.072000	0.22236	0.714000	0.34579	0.0:0.7006:0.169:0.1304	7.949	0.29163	900	0.24599	START domain|START domain|START domain	.	.	.	.	rs138923627	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1678.43	177	chr15	81322461	.	C	T	1678.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.641;DP=507;ExcessHet=0;FS=1.182;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.48;ReadPosRankSum=0.63;SOR=0.65	GT:AD:DP:GQ:PL	0/1:104,73:177:99:1690,0,2793	9	0	1	0
chr15	85244958	85244960	AGG	-	exonic	GOLGA6L3	.	nonframeshift deletion	GOLGA6L3:NM_001310153:exon6:c.968_970del:p.E325del	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.392e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	45.39	47	chr15	85244957	.	CAGG	C	45.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.286;DP=349;ExcessHet=0;FS=2.242;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=38.75;MQRankSum=0.06;QD=0.97;ReadPosRankSum=0.477;SOR=0.223	GT:AD:DP:GQ:PL	0/1:43,4:47:57:57,0,1312	9	0	1	0
chr15	88530840	88530840	T	C	exonic	DET1	.	nonsynonymous SNV	DET1:NM_001144074:exon2:c.A866G:p.D289G,DET1:NM_001321596:exon3:c.A866G:p.D289G,DET1:NM_017996:exon3:c.A899G:p.D300G,DET1:NM_001321594:exon4:c.A764G:p.D255G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.318	0.00613817741382	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.034	0.51853	D	0.009	0.66756	D	0.505	0.37231	P	0.27	0.39872	B	0.000016	0.62929	D	0.152324	0.999966	0.81001	D	1.385	0.34509	L	.	.	.	-3.25	0.65283	D	0.479	0.51672	-0.7606	0.57373	T	0.199	0.55428	T	9	0.52906257	0.63078	D	0.006138	0.16082	T	0.318	0.64008	0.456	0.52102	0.0675242888579	0.06100	0.595297197239194	0.59459	0.736621479123	0.63016	0.657280743122	0.61021	T	0.425961	0.77591	T	0.0656937	0.60321	T	-0.143412	0.59821	T	0.961599886417389	0.66126	D	0.915108	0.69728	D	0.35442662	0.57409	0.35527286	0.61058	0.35442662	0.57409	0.35527286	0.61057	-3.559	0.17871	T	.	.	0.422	0.62236	A	.;.;.;.	.;.;.;.	3.993478	0.58790	24.0	0.9968250448962318	0.79373	0.98529	0.83755	D	AEFBI	0.844511	0.76147	D	0.374329023459271	0.60035	4.188161	0.514087085182772	0.68935	5.28951	0.999999999890716	0.74766	0.651	0.46895	0	0.546412	0.12157	0	0.65145	0.50148	0	0.635551	0.53088	0	.	.	6.17	6.17	0.99707	7.279000	0.77969	7.849000	0.70877	0.651000	0.53179	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:0.0:1.0	16.003	0.80122	882	0.29131	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.25	568.24	102	chr15	88530840	.	T	C	568.24	.	AC=5;AF=0.25;AN=20;BaseQRankSum=-3.277;DP=924;ExcessHet=2.8389;FS=147.511;InbreedingCoeff=-0.3348;MLEAC=5;MLEAF=0.25;MQ=60;MQRankSum=0;QD=1.12;ReadPosRankSum=0.194;SOR=10.283	GT:AD:DP:GQ:PL	0/1:82,20:102:99:142,0,2027	5	0	5	0
chr15	89188219	89188219	A	G	exonic	ABHD2	.	nonsynonymous SNV	ABHD2:NM_152924:exon8:c.A842G:p.K281R,ABHD2:NM_007011:exon12:c.A842G:p.K281R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.070	0.00749745515396	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.788e-06	4.788e-06	5.445e-06	4.125e-06	0.0010	1.99e-06	1.28e-06	0.0005	0.0003	0	0	0	0	0	0.0010	0	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09	0.31987	T	0.197	0.27855	T	0.001	0.07471	B	0.003	0.08700	B	0.000029	0.55875	D	0.159332	0.999	0.46608	D	0.77	0.19370	N	-0.06	0.63568	T	-1.45	0.35597	N	0.193	0.21188	-0.9713	0.36925	T	0.166	0.50437	T	10	0.15439066	0.29123	T	0.007497	0.19899	T	0.070	0.20419	0.268	0.21576	0.600844471782	0.59765	0.31729118904702597	0.31642	0.512335266044	0.49279	0.372040271759	0.21124	T	0.10698	0.41878	T	-0.151057	0.28145	T	-0.454759	0.27173	T	0.43778975931207	0.30347	T	0.756624	0.37993	T	0.075515516	0.17017	0.09958821	0.23782	0.075515516	0.17017	0.09958821	0.23781	-4.168	0.26286	T	.	.	0.066	0.02488	B	.;.	.;.	2.678281	0.34935	19.76	0.99800698364834495	0.88550	0.78705	0.38871	D	AEFDBI	0.414051	0.48348	N	-0.27698576334732	0.30038	1.671304	-0.128789134075917	0.34234	1.967004	0.999363195767717	0.39301	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.59	3.29	0.36801	2.334000	0.43579	4.447000	0.43408	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.8599:0.0:0.1401:0.0	9.666	0.39148	917	0.20147	Alpha/beta hydrolase fold-1;Alpha/beta hydrolase fold-1	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1684.43	129	chr15	89188219	.	A	G	1684.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.493;DP=466;ExcessHet=0;FS=0.659;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.06;ReadPosRankSum=-0.852;SOR=0.584	GT:AD:DP:GQ:PL	0/1:61,68:129:99:1696,0,1625	9	0	1	0
chr16	583501	583501	C	T	exonic	PIGQ	.	nonsynonymous SNV	PIGQ:NM_148920:exon10:c.C2150T:p.P717L	.	416	1104	2	0	0	2	0.000904977	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.013	0.00619420514973	.	.	4.205e-05	0	0	0	0	4.624e-05	0	0.0001	3.88e-05	6	154602	rs777576517	2.123e-05	2.121e-05	1.771e-05	2.477e-05	0.0026	1.521e-05	1.325e-05	0.0016	0.0013	2.987e-05	2.237e-05	0	0	0	0.0026	7.195e-06	6.625e-05	2.319e-05	3.94e-05	3.937e-05	2.57e-05	5.373e-05	.	1.715e-05	1.129e-05	.	.	0	0	0	0	0	0	0.0204	0	0	0	0.0	0.91255	D	0.0	0.92824	D	0.0	0.02946	B	0.001	0.04355	B	.	.	.	.	1	0.18878	N	0	0.06538	N	1.89	0.23688	T	-0.13	0.08971	N	0.116	0.10483	-0.9934	0.31722	T	0.028	0.12147	T	8	0.05603975	0.06219	T	0.006194	0.16229	T	0.013	0.01715	0.318	0.29581	0.29132392195	0.28731	0.04445148083100922	0.04389	0.136765815068	0.15425	0.387601912022	0.23331	T	0.033167	0.22801	T	-0.3872	0.02804	T	-0.663512	0.08031	T	0.0930540664186085	0.11575	T	0.433957	0.11861	T	0.036667857	0.04556	0.056293417	0.10031	0.036667857	0.04556	0.056293417	0.10031	-3.732	0.19791	T	.	.	0.083	0.09045	B	.	.	0.562570	0.09313	6.093	0.92939509903427675	0.22508	0.05355	0.11213	N	AEFDBCI	0.070320	0.13955	N	-1.01650803753162	0.08261	0.3867071	-1.01969275965569	0.09353	0.4648058	0.991605795854557	0.32545	0.634777	0.41761	0	0.643519	0.57511	0	0.26897	0.05253	2	0.562822	0.20929	0	.	.	3.55	2.58	0.30011	-1.116000	0.03397	-0.098000	0.11976	0.572000	0.28966	0.000000	0.06391	0.000000	0.08366	0.006000	0.07323	0.0:0.8749:0.0:0.1251	7.726	0.27922	830	0.39242	.	.	.	.	.	.	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	0.003024	0.005051	0.005435	0.000000	0.000000	0.000000	0.000000	0.000000	0.05	1854.43	171	chr16	583501	.	C	T	1854.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.95;DP=655;ExcessHet=0;FS=0.569;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.84;ReadPosRankSum=-0.574;SOR=0.684	GT:AD:DP:GQ:PL	0/1:100,71:171:99:1866,0,2751	9	0	1	0
chr16	1221910	1221910	G	T	exonic	TPSG1	.	nonsynonymous SNV	TPSG1:NM_012467:exon6:c.C844A:p.L282I	.	402	1117	3	0	0	3	0.00134108	.	.	.	726420	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.086	0.02628828882	0.0029	0.000998403	0.0025	0.0008	0.0008	0	0.0003	0.0040	0.0012	0.0005	0.0025485	394	154602	rs117001332	0.0042	0.0042	0.0044	0.0041	0.0052	0.0042	0.0041	0.0051	0.0051	0.0004	0.0014	3.842e-05	0	0.0004	0.0014	0.0052	0.0033	0.0010	0.0027	0.0027	0.0029	0.0025	0.0050	0.0025	0.0024	0.0045	0.0044	0.0007	0.0066	0.0015	0	0	0.0008	0	0.0050	0.0019	0.0002	0.555	0.06482	T	0.442	0.13252	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	-2.29	0.87591	D	-0.16	0.09460	N	0.087	0.06454	-0.8749	0.50158	T	0.243	0.61201	T	9	0.0046982765	0.00099	T	0.026288	0.49208	D	0.086	0.25016	.	.	0.298056030225	0.29408	0.1617490073080952	0.16095	0.0053799110228	0.00472	0.293233036995	0.09395	T	.	.	.	-0.432883	0.01424	T	-0.389456	0.34615	T	0.000594509451174845	0.00005	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.087	0.11124	B	.	.	0.878579	0.12517	9.047	0.96908087731935455	0.31566	0.07852	0.13844	N	AEFDBCI	0.088148	0.17870	N	-1.12049972051623	0.06279	0.2886243	-1.14347386445851	0.06885	0.3329891	0.968831800704342	0.29082	0.580535	0.33130	0	0.547309	0.14657	0	0.576033	0.28219	0	0.613276	0.41899	0	.	.	4.05	-0.997	0.09693	-0.175000	0.09816	-0.064000	0.12386	0.612000	0.49041	0.000000	0.06391	0.000000	0.08366	0.179000	0.21265	0.098:0.1529:0.4369:0.3122	2.791	0.05058	929	0.16858	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.001007	0.000000	0.001362	0.000000	0.000000	0.000000	0.000000	0.003788	0.1	3148.14	125	chr16	1221910	.	G	T	3148.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=1.14;DP=710;ExcessHet=0.2348;FS=0;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=15.14;ReadPosRankSum=-1.189;SOR=0.717	GT:AD:DP:GQ:PL	0/1:54,71:125:99:2051,0,1375	8	0	2	0
chr16	1397277	1397277	A	0	exonic	UNKL	.	.	.	.	28	20	70	25	83	203	0.75	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4444	3512.36	45	chr16	1397277	.	A	*	3512.36	.	AC=8;AF=0.444;AN=18;BaseQRankSum=0.056;DP=806;ExcessHet=5.3821;FS=3.421;InbreedingCoeff=-0.3919;MLEAC=9;MLEAF=0.5;MQ=59.91;MQRankSum=0;QD=6.39;ReadPosRankSum=-0.022;SOR=0.464	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,45:45:99:.:.:1671,148,0:.	2	1	6	1
chr16	1495588	1495588	T	C	exonic	TELO2	.	nonsynonymous SNV	TELO2:NM_001351846:exon3:c.T578C:p.V193A,TELO2:NM_016111:exon3:c.T578C:p.V193A	You-Hoover-Fong syndrome, Autosomal recessive	431	1062	27	2	0	31	0.0143852	.	.	.	714745	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.112	.	0.0035	0.00499201	0.0063	0.0007	0.0027	0.0001	0.0003	0.0061	0.0057	0.0194	0.0056597	875	154602	rs141647559	0.0046	0.0046	0.0040	0.0052	0.0191	0.0045	0.0044	0.0184	0.0180	0.0005	0.0027	0.0169	2.532e-05	0.0011	0.0129	0.0036	0.0050	0.0191	0.0035	0.0035	0.0032	0.0039	0.0193	0.0033	0.0032	0.0161	0.0149	0.0006	0	0.0036	0.0170	0.0004	9.411e-05	0.0510	0.0041	0.0043	0.0193	0.039	0.42487	D	0.013	0.63109	D	0.049	0.22227	B	0.015	0.17295	B	0.375640	0.13462	N	0.708276	0.999224	0.21485	N	2.2	0.62015	M	-1.85	0.84267	D	-1.65	0.39503	N	0.068	0.04072	-0.6777	0.61479	T	0.357	0.71936	T	10	0.0053475797	0.00117	T	.	.	.	0.112	0.31546	.	.	0.513280433867	0.50970	0.23863046180916195	0.23777	0.144146784678	0.16276	0.305148303509	0.11173	T	0.073178	0.34635	T	-0.420889	0.01688	T	-0.362418	0.37772	T	0.015313074487058	0.00339	T	0.393061	0.09795	T	0.037355676	0.04774	0.05269088	0.08732	0.037355676	0.04773	0.05269088	0.08731	-2.494	0.05740	T	0.2086841170818422	0.27921	0.161	0.35622	B	.	.	1.256583	0.16537	12.60	0.84911635918903006	0.15571	0.53282	0.29334	D	AEFBCI	0.158386	0.28403	N	-0.709159317435632	0.15763	0.7972947	-0.709327222228478	0.16728	0.8863125	0.999998197357522	0.74766	0.706548	0.73137	0	0.606735	0.50208	0	0.606735	0.37207	0	0.714379	0.83352	0	.	.	5.33	4.23	0.49319	1.493000	0.35214	1.873000	0.29400	-0.109000	0.15193	0.004000	0.16614	0.026000	0.21063	0.021000	0.11733	0.0:0.0807:0.0:0.9192	10.075	0.41526	779	0.47767	.	.	.	.	.	.	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	0	0	1	0	0.009577	0.000000	0.010870	0.005848	0.000000	0.008621	0.012195	0.015267	0.05	1123.43	82	chr16	1495588	.	T	C	1123.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.308;DP=426;ExcessHet=0;FS=4.286;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.7;ReadPosRankSum=-0.186;SOR=1.19	GT:AD:DP:GQ:PL	0/1:37,45:82:99:1135,0,966	9	0	1	0
chr16	1519928	1519928	C	G	exonic	IFT140	.	nonsynonymous SNV	IFT140:NM_014714:exon29:c.G3993C:p.Q1331H	Short-rib thoracic dysplasia 9 with or without polydactyly, Autosomal recessive	0	1504	18	0	0	18	0.00594845	.	.	YES	342012	Saldino-Mainzer_syndrome|IFT140-related_disorder|not_specified|not_provided	MONDO:MONDO:0009964,MedGen:C1849437,OMIM:266920,Orphanet:140969|.|MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.039	0.00752693143321	0.0018	0.00119808	0.0023	0.0003	0.0008	0	0.0007	0.0025	0.0038	0.0068	0.0022057	341	154602	rs35823417	0.0023	0.0024	0.0022	0.0025	0.0062	0.0023	0.0022	0.0057	0.0056	0.0002	0.0004	0.0049	5.053e-05	0.0010	0.0028	0.0022	0.0024	0.0062	0.0018	0.0018	0.0017	0.0018	0.0052	0.0016	0.0015	0.0036	0.0031	0.0003	0.0066	0.0005	0.0046	0	0.0009	0.0068	0.0027	0.0019	0.0052	0.148	0.24857	T	0.143	0.45961	T	0.0	0.02946	B	0.002	0.06944	B	0.066896	0.21779	N	0.497841	0.686778	0.30228	N	1.575	0.39704	L	0.98	0.42122	T	-1.24	0.31375	N	0.273	0.30914	-1.0313	0.20034	T	0.072	0.29387	T	10	0.011028826	0.00243	T	0.007527	0.19979	T	0.039	0.10176	0.396	0.42262	0.424194796918	0.42034	0.26771063134601975	0.26684	0.0652125274148	0.07282	0.32082092762	0.13546	T	0.01702	0.22775	T	-0.56915	0.00224	T	-0.588816	0.13769	T	0.00680652011326848	0.00077	T	0.779722	0.42065	T	0.08465561	0.19604	0.08424639	0.19367	0.10612093	0.25091	0.0798851	0.18023	-4.574	0.31843	T	0.16601343189898216	0.20616	0.126	0.38006	B	.;.;.	.;.;.	1.711284	0.21790	15.35	0.93911997235334244	0.23947	0.75277	0.36850	D	AEFBI	0.124043	0.23992	N	-0.269522248979812	0.30332	1.690251	-0.112300519175589	0.34894	2.012354	0.906481647171222	0.26233	0.695654	0.57023	0	0.633656	0.55848	0	0.723109	0.80598	0	0.655142	0.61905	0	.	.	5.42	5.42	0.78666	0.438000	0.21277	3.315000	0.37496	0.599000	0.40250	0.998000	0.41325	1.000000	0.68203	0.232000	0.22788	0.1277:0.5707:0.3016:0.0	10.066	0.41479	814	0.42100	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003528	0.000000	0.002717	0.002924	0.000000	0.000000	0.003067	0.007576	0.1	1676.14	75	chr16	1519928	.	C	G	1676.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=0.766;DP=447;ExcessHet=0.2348;FS=0.645;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=11.8;ReadPosRankSum=1.35;SOR=0.809	GT:AD:DP:GQ:PL	0/1:33,42:75:99:1225,0,900	8	0	2	0
chr16	2179616	2179616	G	A	exonic	CASKIN1	.	nonsynonymous SNV	CASKIN1:NM_020764:exon18:c.C3752T:p.P1251L	.	423	1088	11	0	0	11	0.00502972	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.396	.	0.0043	0.00299521	0.0223	0.0048	0.0073	0	0.0641	0.0297	0	0.035	0.0033247	514	154602	rs201211065	0.0082	0.0077	0.0084	0.0079	0.0092	0.0080	0.0080	0.0091	0.0090	0.0010	0.0013	0.0006	0	0.0078	0.0030	0.0092	0.0061	0.0050	0.0048	0.0048	0.0051	0.0045	0.0078	0.0045	0.0044	0.0073	0.0071	0.0016	0.0011	0.0020	0.0012	0	0.0075	0	0.0078	0.0014	0.0035	0.001	0.78490	D	0.016	0.60972	D	1.0	0.90584	D	0.992	0.80445	D	.	.	.	.	1	0.81001	D	2.25	0.63811	M	0.23	0.59717	T	-4.11	0.74980	D	0.506	0.53796	-0.5923	0.65128	T	0.223	0.58678	T	9	0.008794069	0.00199	T	.	.	.	0.396	0.71084	.	.	0.719674194334	0.71720	0.1309779199915567	0.13022	0.978654125277	0.73649	0.809084296227	0.83352	D	0.122975	0.44702	T	-0.35826	0.04229	T	-0.275715	0.47241	T	0.0228644197563702	0.01008	T	0.861714	0.55578	D	0.2658684	0.49657	0.26620787	0.52463	0.2658684	0.49656	0.26620787	0.52463	-3.902	0.22333	T	.	.	0.103	0.18497	B	.	.	5.044760	0.83989	28.2	0.99796499765478697	0.88194	0.94804	0.62386	D	AEFBI	0.654735	0.62732	D	0.524517995812425	0.68544	5.231846	0.458619277844003	0.65274	4.802945	0.994406536393526	0.33622	0.676563	0.55306	0	0.550933	0.16991	0	0.673471	0.61138	0	0.562822	0.20929	0	.	.	3.46	3.46	0.38718	5.879000	0.69436	9.581000	0.81029	0.589000	0.31548	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.1121:0.0:0.8878:0.0	8.189	0.30518	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	0.003646	0.000000	0.002778	0.000000	0.000000	0.008772	0.000000	0.007812	0.05	491.43	43	chr16	2179616	.	G	A	491.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.718;DP=341;ExcessHet=0;FS=1.177;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.43;ReadPosRankSum=-0.841;SOR=0.829	GT:AD:DP:GQ:PL	0/1:23,20:43:99:503,0,551	9	0	1	0
chr16	2464630	2464630	C	T	exonic	TEDC2	.	nonsynonymous SNV	TEDC2:NM_025108:exon10:c.C1264T:p.R422C	.	409	1076	34	3	0	40	0.0182482	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.040	.	0.0054	0.00519169	0.0088	0.0014	0.0028	0	0.0239	0.0100	0.0060	0.0119	0.0079688	1232	154602	rs72768723	0.0071	0.0071	0.0069	0.0073	0.0161	0.0070	0.0070	0.0135	0.0125	0.0014	0.0032	0.0080	0	0.0193	0.0161	0.0068	0.0081	0.0101	0.0059	0.0059	0.0052	0.0066	0.0073	0.0056	0.0055	0.0061	0.0059	0.0013	0	0.0057	0.0104	0.0002	0.0202	0.0137	0.0066	0.0080	0.0073	0.003	0.68238	D	0.001	0.83351	D	0.049	0.22227	B	0.008	0.13708	B	0.464993	0.12346	N	0.722332	1	0.08975	N	.	.	.	0.71	0.51228	T	-4.08	0.74742	D	0.221	0.24758	-0.9751	0.36104	T	0.074	0.29739	T	10	0.0042487085	0.00085	T	.	.	.	0.040	0.10527	.	.	0.582293646009	0.57902	0.29318303773211113	0.29231	0.553608707389	0.52127	.	.	.	0.077173	0.35591	T	-0.479382	0.00745	T	-0.451981	0.27477	T	0.0354814574228661	0.02890	T	0.784022	0.42156	T	0.28052235	0.51099	0.16465454	0.38132	0.28052235	0.51098	0.16465454	0.38131	-5.717	0.43845	T	.	.	0.158	0.35204	B	.;.	.;.	2.178234	0.27765	17.57	0.99691153425546586	0.79977	0.10164	0.15745	N	AEFDGBHCI	0.120056	0.23405	N	-0.800832403474442	0.13289	0.6535961	-0.876775266829197	0.12646	0.6516711	0.999789446195623	0.43007	0.634777	0.41761	0	0.606735	0.50208	0	0.643519	0.47002	0	0.592323	0.36904	0	.	.	4.44	1.15	0.19876	0.159000	0.16258	-0.008000	0.13101	0.549000	0.26987	0.000000	0.06391	0.000000	0.08366	0.045000	0.14751	0.1996:0.5832:0.0:0.2172	3.475	0.07147	709	0.56835	.;.	.	.	.	.	rs72768723	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.012097	0.010204	0.009537	0.005848	0.000000	0.017241	0.024390	0.026515	0.1	1019.14	68	chr16	2464630	.	C	T	1019.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=2.57;DP=416;ExcessHet=0.2348;FS=0;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=7.39;ReadPosRankSum=0.758;SOR=0.65	GT:AD:DP:GQ:PL	0/1:44,24:68:99:600,0,1057	8	0	2	0
chr16	2933538	2933538	A	G	exonic	FLYWCH1	.	nonsynonymous SNV	FLYWCH1:NM_001308068:exon5:c.A1205G:p.Q402R,FLYWCH1:NM_020912:exon5:c.A1202G:p.Q401R,FLYWCH1:NM_032296:exon5:c.A1202G:p.Q401R	.	414	1103	4	1	0	6	0.00271248	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.031	0.00465213204227	0.0006	0.000399361	0.0012	0.0001	9.258e-05	0.0001	0.0004	0.0017	0.0026	0.0014	0.001009	156	154602	rs199772403	0.0010	0.0010	0.0010	0.0011	0.0030	0.0010	0.0010	0.0019	0.0015	0.0002	0.0003	0.0060	7.573e-05	0.0004	0.0030	0.0010	0.0011	0.0011	0.0009	0.0009	0.0010	0.0008	0.0021	0.0008	0.0007	0.0011	0.0009	0.0003	0	6.531e-05	0.0063	0	0.0004	0.0034	0.0012	0.0014	0.0021	0.239	0.17761	T	0.146	0.33000	T	0.054	0.30888	B	0.006	0.26451	B	.	.	.	.	0.999819	0.20249	N	1.935	0.51832	L	.	.	.	-1.03	0.27052	N	0.3	0.33904	-1.0732	0.08724	T	0.047	0.19958	T	8	0.0095255375	0.00215	T	0.004652	0.11534	T	0.031	0.07369	.	.	0.0138822411134	0.00435	0.28624064612812355	0.28537	.	.	0.372117161751	0.21135	T	0.011361	0.10143	T	-0.495811	0.00604	T	-0.530526	0.19234	T	0.0173618824402728	0.00475	T	0.390461	0.09684	T	0.021661319	0.00780	0.03994408	0.04203	0.021661319	0.00780	0.03994408	0.04203	-4.034	0.24311	T	.	.	0.077	0.06479	B	.;.	.;.	0.440021	0.08101	4.830	0.62950412539720701	0.07095	0.08896	0.14755	N	AEFDBI	0.066948	0.13137	N	-0.750563989585521	0.14617	0.7296731	-0.743219928541112	0.15888	0.8379034	0.0774458580637721	0.15759	0.706548	0.73137	0	0.724815	0.89359	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	4.28	3.2	0.35826	0.087000	0.14801	0.367000	0.17636	0.751000	0.87719	0.000000	0.06391	0.000000	0.08366	0.017000	0.10941	0.8805:0.0:0.1195:0.0	5.674	0.17010	867	0.32089	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002014	0.005051	0.000000	0.000000	0.000000	0.000000	0.003049	0.011364	0.1	1547.14	59	chr16	2933538	.	A	G	1547.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-0.988;DP=408;ExcessHet=0.2348;FS=0.721;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=13.81;ReadPosRankSum=-0.357;SOR=0.781	GT:AD:DP:GQ:PL	0/1:28,31:59:99:745,0,734	8	0	2	0
chr16	2937288	2937288	G	A	exonic	FLYWCH1	.	nonsynonymous SNV	FLYWCH1:NM_001308068:exon7:c.G1681A:p.V561I,FLYWCH1:NM_020912:exon7:c.G1678A:p.V560I,FLYWCH1:NM_032296:exon7:c.G1678A:p.V560I	.	422	1098	2	0	0	2	0.000909918	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.139	.	0.0025	0.000399361	0.0036	0.0011	0.0014	0	0.0158	0.0049	0.0018	0.0002	0.0025679	397	154602	rs117763371	0.0032	0.0031	0.0032	0.0031	0.0036	0.0031	0.0030	0.0035	0.0035	0.0005	0.0007	0.0002	0	0.0076	0.0004	0.0036	0.0020	0.0003	0.0027	0.0027	0.0026	0.0028	0.0040	0.0025	0.0024	0.0036	0.0035	0.0009	0	0.0006	0	0.0002	0.0078	0	0.0040	0.0019	0.0002	0.106	0.29688	T	0.0	0.92824	D	0.92	0.68779	P	0.956	0.86255	D	.	.	.	.	0.988659	0.26499	N	1.975	0.53506	M	.	.	.	-0.48	0.15379	N	0.319	0.36043	-0.9998	0.29973	T	0.165	0.50225	T	8	0.0107367635	0.00238	T	.	.	.	0.139	0.37390	.	.	0.0611884634855	0.05136	0.23789760866812806	0.23703	.	.	0.710054159164	0.68602	T	0.082116	0.36753	T	-0.428643	0.01510	T	-0.387126	0.34888	T	0.0268319409778388	0.01521	T	0.79622	0.43953	T	0.04245453	0.06440	0.06273653	0.12319	0.04245453	0.06440	0.06273653	0.12319	-8.765	0.66361	D	.	.	0.290	0.52135	B	.;.	.;.	3.389537	0.46917	22.4	0.99806732465279457	0.89085	0.94881	0.62654	D	AEFDBI	0.496965	0.53168	N	0.236662072631876	0.52983	3.469372	0.189637367321184	0.49279	3.132941	0.292783162183409	0.19105	0.67177	0.52595	0	0.702456	0.74545	0	0.645312	0.48771	0	0.635551	0.53088	0	.	.	2.98	2.98	0.33575	3.793000	0.55188	6.631000	0.56152	0.599000	0.40250	0.997000	0.40164	1.000000	0.68203	0.146000	0.20164	0.0:0.0:1.0:0.0	9.677	0.39210	867	0.32089	Zinc finger, FLYWCH-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	0.000506	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.05	2435.43	106	chr16	2937288	.	G	A	2435.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.98;DP=467;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=59.89;MQRankSum=-2.065;QD=22.98;ReadPosRankSum=0.046;SOR=0.636	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:43,63:106:99:0|1:2937278_G_T:2447,0,1604:2937278	9	0	1	0
chr16	3589592	3589592	C	G	exonic	SLX4	.	nonsynonymous SNV	SLX4:NM_032444:exon12:c.G4046C:p.G1349A	Fanconi anemia, complementation group P, Autosomal recessive	0	1514	8	0	0	8	0.00263505	.	.	.	236954	Fanconi_anemia|not_provided|not_specified|Fanconi_anemia_complementation_group_P	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650,Orphanet:84|MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0013499,MedGen:C3469542,OMIM:613951,Orphanet:84	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.006	0.00878627637589	0.0003	.	0.0001	0	8.64e-05	0	0	0.0002	0	0.0002	0.0001164	18	154602	rs151144102	0.0002	0.0002	0.0002	0.0002	0.0016	0.0002	0.0002	0.0008	0.0006	2.987e-05	4.472e-05	0	0	0	0.0016	0.0002	0.0004	0.0003	5.917e-05	5.911e-05	5.141e-05	6.73e-05	0.0004	3.079e-05	2.211e-05	7.301e-05	3.033e-05	0	0	6.549e-05	0	0	0	0	8.822e-05	0	0.0004	0.528	0.07071	T	0.732	0.05128	T	0.001	0.07471	B	0.001	0.04355	B	0.570590	0.05477	N	1.229190	1	0.08975	N	0	0.06538	N	5.35	0.01058	T	0.34	0.03824	N	0.097	0.07811	-0.9255	0.44786	T	0.002	0.00585	T	10	0.026970595	0.00852	T	0.008786	0.23196	T	0.006	0.00375	.	.	0.0138822411134	0.00435	0.16878965524297848	0.16798	0.0635604997032	0.07079	0.232302188873	0.02143	T	0.025915	0.19284	T	-0.641645	0.00081	T	-0.848937	0.00973	T	0.00976248001554378	0.00128	T	0.443356	0.12326	T	0.050007477	0.08968	0.032101743	0.01896	0.050007477	0.08968	0.032101743	0.01896	-3.131	0.11656	T	.	.	0.099	0.16494	B	.	.	0.018041	0.04408	1.148	0.3570164571392383	0.02255	0.21078	0.21273	N	AEFDBCIJ	0.095682	0.19328	N	-1.47157605324573	0.02053	0.09024021	-1.43211537474618	0.02936	0.1360122	0.999999966347897	0.74766	0.695654	0.57023	0	0.633656	0.55848	0	0.723109	0.80598	0	0.567892	0.33627	0	.	.	5.43	-1.92	0.07203	-0.067000	0.11538	.	.	-0.193000	0.09282	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.2536:0.1681:0.5783	5.363	0.15400	587	0.69154	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001511	0.000000	0.000000	0.000000	0.000000	0.008621	0.000000	0.007576	0.05	1465.43	126	chr16	3589592	.	C	G	1465.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.055;DP=534;ExcessHet=0;FS=0.664;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.63;ReadPosRankSum=-0.383;SOR=0.585	GT:AD:DP:GQ:PL	0/1:65,61:126:99:1477,0,1636	9	0	1	0
chr16	4657283	4657283	G	A	exonic	MGRN1	.	nonsynonymous SNV	MGRN1:NM_001142289:exon5:c.G481A:p.V161I,MGRN1:NM_001142290:exon5:c.G481A:p.V161I,MGRN1:NM_001142291:exon5:c.G481A:p.V161I,MGRN1:NM_015246:exon5:c.G481A:p.V161I	.	.	.	.	.	.	.	.	.	.	.	2257426	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.075	0.0184728257181	.	.	3.313e-05	0	0	0.0005	0	0	0	0	2.59e-05	4	154602	rs758611746	2.805e-05	2.805e-05	2.995e-05	2.613e-05	0.0004	2.087e-05	1.878e-05	0.0002	0.0002	2.987e-05	0	0	0.0004	0	0	1.709e-05	8.279e-05	1.159e-05	1.314e-05	1.313e-05	1.285e-05	1.345e-05	0.0002	2.18e-06	8.2e-07	.	.	0	0	0	0	0.0002	0	0	1.47e-05	0	0	0.116	0.28395	T	0.062	0.45318	T	0.011	0.29916	B	0.013	0.31460	B	0.000009	0.62929	N	0.110740	0.999998	0.58761	D	2.485	0.72352	M	1.36	0.34452	T	-0.38	0.14000	N	0.331	0.38129	-1.0868	0.06084	T	0.079	0.31344	T	10	0.090881646	0.15871	T	0.018473	0.40544	T	0.075	0.21907	0.259	0.20159	0.107399877778	0.10242	0.20479051323350966	0.20396	0.0361065396824	0.03815	0.47914275527	0.35938	T	0.074661	0.48354	T	-0.434202	0.01399	T	-0.498444	0.22508	T	0.205844144489699	0.20734	T	0.854015	0.53996	D	0.023515321	0.01098	0.04303731	0.05262	0.023515321	0.01097	0.04303731	0.05262	-10.068	0.74318	D	.	.	0.070	0.24532	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	2.885665	0.38196	20.7	0.99035561202151601	0.50895	0.93336	0.57944	D	AEFBCI	0.667228	0.63542	D	-0.0699038112688235	0.38719	2.271977	0.0457503998348309	0.41867	2.522507	0.749363671898335	0.23335	0.706548	0.73137	0	0.702456	0.74545	0	0.570548	0.19454	0	0.714379	0.83352	0	.	.	5.22	3.26	0.36471	6.828000	0.75100	1.736000	0.28364	-0.109000	0.15193	1.000000	0.71638	0.939000	0.28734	0.585000	0.31016	0.1591:0.0:0.8409:0.0	10.556	0.44306	659	0.61982	.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1	1667.14	60	chr16	4657283	.	G	A	1667.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=3.67;DP=397;ExcessHet=0.2348;FS=0;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=13.89;ReadPosRankSum=1.62;SOR=0.631	GT:AD:DP:GQ:PL	0/1:30,30:60:99:916,0,673	8	0	2	0
chr16	8855238	8855238	C	T	exonic	CARHSP1	.	nonsynonymous SNV	CARHSP1:NM_001042476:exon4:c.G370A:p.V124M,CARHSP1:NM_001278263:exon4:c.G370A:p.V124M,CARHSP1:NM_001278264:exon4:c.G370A:p.V124M,CARHSP1:NM_001278265:exon4:c.G370A:p.V124M,CARHSP1:NM_001278266:exon4:c.G370A:p.V124M,CARHSP1:NM_014316:exon4:c.G370A:p.V124M,CARHSP1:NM_001278260:exon5:c.G370A:p.V124M,CARHSP1:NM_001278261:exon5:c.G370A:p.V124M,CARHSP1:NM_001278262:exon5:c.G370A:p.V124M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.405	0.108350687287	0.0007	.	0.0008	9.61e-05	0.0004	0.0001	0.0046	0.0009	0	0	0.0007115	110	154602	rs149072869	0.0009	0.0009	0.0009	0.0009	0.0009	0.0009	0.0008	0.0009	0.0009	5.977e-05	0.0003	0	0.0001	0.0039	0.0003	0.0009	0.0004	2.322e-05	0.0009	0.0009	0.0007	0.0010	0.0010	0.0007	0.0007	0.0008	0.0008	0.0003	0	0.0002	0	0	0.0041	0	0.0010	0.0005	0	0.001	0.78490	D	0.001	0.83351	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.955	0.85029	M	.	.	.	-2.64	0.58248	D	0.796	0.84090	0.332	0.88065	D	0.606	0.86026	D	9	0.02310896	0.00595	T	0.108351	0.78483	D	0.405	0.71791	.	.	0.608546780867	0.60540	0.5656272418383417	0.56489	.	.	0.674033522606	0.63413	T	0.376348	0.73976	T	0.0411935	0.57202	T	0.245862	0.85424	D	0.219267068607503	0.21428	T	0.927907	0.84976	D	0.6212168	0.73828	0.5227987	0.72430	0.6212168	0.73830	0.5227987	0.72431	-9.233	0.69185	D	.	.	0.881	0.85666	P	.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.	5.538176	0.91939	32	0.99903132513922788	0.97426	0.98528	0.83745	D	AEFDBHCI	0.938283	0.93727	D	1.02218157527888	0.96387	14.63268	0.974503974216356	0.98070	17.36031	1.0	0.98316	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	6.07	6.07	0.98675	7.905000	0.86479	7.534000	0.59965	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.927000	0.46353	0.0:1.0:0.0:0.0	19.632	0.95708	928	0.17405	Cold-shock protein, DNA-binding|Cold shock domain|Cold-shock protein, DNA-binding;Cold-shock protein, DNA-binding|Cold shock domain|Cold-shock protein, DNA-binding;Cold-shock protein, DNA-binding|Cold shock domain|Cold-shock protein, DNA-binding;Cold-shock protein, DNA-binding|Cold shock domain|Cold-shock protein, DNA-binding;Cold-shock protein, DNA-binding|Cold shock domain|Cold-shock protein, DNA-binding;Cold-shock protein, DNA-binding|Cold shock domain|Cold-shock protein, DNA-binding;Cold-shock protein, DNA-binding|Cold shock domain|Cold-shock protein, DNA-binding;Cold-shock protein, DNA-binding|Cold shock domain|Cold-shock protein, DNA-binding;Cold-shock protein, DNA-binding|Cold shock domain|Cold-shock protein, DNA-binding;Cold-shock protein, DNA-binding|Cold shock domain|Cold-shock protein, DNA-binding;Cold shock domain|Cold-shock protein, DNA-binding;Cold shock domain|Cold-shock protein, DNA-binding	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	2194.43	156	chr16	8855238	.	C	T	2194.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.53;DP=531;ExcessHet=0;FS=1.276;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.07;ReadPosRankSum=1.23;SOR=0.552	GT:AD:DP:GQ:PL	0/1:67,89:156:99:2206,0,1461	9	0	1	0
chr16	14582206	14582206	G	C	exonic	PARN	.	nonsynonymous SNV	PARN:NM_001242992:exon16:c.C1029G:p.C343W,PARN:NM_001134477:exon17:c.C984G:p.C328W,PARN:NM_002582:exon17:c.C1167G:p.C389W	Dyskeratosis congenita, autosomal recessive 6, Autosomal recessive;Pulmonary fibrosis and/or bone marrow failure, telomere-related, 4, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.641	0.443768951762	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0007	0.0022	0.0008	0.0006	0.0009	0.0007	0.0007	0.0008	0.0008	0.0005	4.476e-05	0.0001	0.0003	0	0.0002	0.0009	0.0006	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.815	0.81989	M	1.91	0.47477	T	-9.08	0.98168	D	0.906	0.93370	-0.6388	0.63197	T	0.257	0.62766	T	10	0.95576084	0.94937	D	0.443769	0.94214	D	0.641	0.86333	0.808	0.92512	0.389283895039	0.38539	0.7594861977466015	0.75896	0.721414007513	0.62234	0.886558771133	0.94825	D	0.366013	0.73134	T	0.23211	0.76920	D	0.0956334	0.76619	D	0.997612833976746	0.91988	D	0.970303	0.89317	D	0.96886563	0.98153	0.88045895	0.93594	0.96886563	0.98153	0.88045895	0.93594	-17.118	0.99008	D	.	.	0.999	0.98765	P	.;.;.;.	.;.;.;.	3.616746	0.51161	23.1	0.9928480025877614	0.58043	0.87022	0.46439	D	AEFBI	0.686411	0.64809	D	0.0378907468480801	0.43587	2.648657	-0.0492109747885764	0.37524	2.19827	0.0661472356186695	0.15384	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.81	0.019	0.13441	0.292000	0.18766	1.715000	0.28221	-0.681000	0.04224	0.982000	0.35529	1.000000	0.68203	0.977000	0.56843	0.4191:0.0:0.5809:0.0	11.520	0.49794	731	0.54177	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	1673.04	150	chr16	14582206	.	G	C	1673.04	.	AC=10;AF=0.5;AN=20;BaseQRankSum=-1.707;DP=1877;ExcessHet=22.563;FS=418.632;InbreedingCoeff=-0.9999;MLEAC=10;MLEAF=0.5;MQ=60;MQRankSum=0;QD=1.09;ReadPosRankSum=2.08;SOR=13.119	GT:AD:DP:GQ:PL	0/1:94,56:150:99:153,0,1559	0	0	10	0
chr16	14667708	14667711	CCCC	-	exonic	BFAR	.	frameshift deletion	BFAR:NM_001330500:exon6:c.859_862del:p.P287Sfs*45,BFAR:NM_016561:exon8:c.1234_1237del:p.P412Sfs*45	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	139.1	97	chr16	14667707	.	GCCCC	G	139.1	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-0.012;DP=465;ExcessHet=0.2348;FS=59.818;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=0.74;ReadPosRankSum=0.935;SOR=6.202	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:83,14:97:99:0|1:14667707_GCCCC_G:101,0,3009:14667707	8	0	2	0
chr16	14667711	14667711	-	GGGG	exonic	BFAR	.	frameshift insertion	BFAR:NM_001330500:exon6:c.862_863insGGGG:p.L288Rfs*19,BFAR:NM_016561:exon8:c.1237_1238insGGGG:p.L413Rfs*19	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1111	140.33	97	chr16	14667711	.	C	CGGGG	140.33	.	AC=2;AF=0.111;AN=18;BaseQRankSum=-0.377;DP=490;ExcessHet=0.2348;FS=59.818;InbreedingCoeff=-0.1429;MLEAC=2;MLEAF=0.111;MQ=60;MQRankSum=0;QD=0.75;ReadPosRankSum=0.95;SOR=6.202	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:83,14:97:99:0|1:14667707_GCCCC_G:101,0,3009:14667707	7	0	2	1
chr16	14857532	14857532	G	A	exonic	NOMO1;NOMO3	.	nonsynonymous SNV	NOMO3:NM_001004067:exon11:c.G1097A:p.R366H,NOMO1:NM_014287:exon11:c.G1097A:p.R366H	.	435	1084	3	0	0	3	0.00138185	.	.	.	4020830	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.238	0.0182143103975	0.0018	0.000599042	0.0019	0.0006	0.0024	0	0.0005	0.0022	0.0057	0.0023	7.76e-05	12	154602	rs137963033	0.0020	0.0020	0.0019	0.0020	0.0030	0.0019	0.0019	0.0027	0.0026	0.0004	0.0022	0.0016	2.52e-05	0.0005	0.0014	0.0021	0.0019	0.0030	0.0012	0.0012	0.0013	0.0012	0.0026	0.0011	0.0010	0.0015	0.0013	0.0004	0	0.0017	0.0026	0	0.0004	0.0034	0.0016	0.0020	0.0026	0.424	0.09717	T	0.092	0.53426	T	0.985	0.61118	D	0.782	0.57384	P	0.000000	0.84330	D	0.000000	1	0.81001	D	2.34	0.67151	M	0.81	0.48460	T	-1.2	0.30555	N	0.886	0.88466	-0.6886	0.60973	T	0.213	0.57441	T	10	0.09538543	0.17033	T	0.018214	0.40197	T	0.238	0.54217	.	.	0.454238212503	0.45050	0.35187474594162793	0.35101	.	.	0.793433129787	0.80965	T	0.011465	0.20529	T	-0.329329	0.06162	T	-0.249513	0.49865	T	0.0784773671976458	0.09791	T	0.983102	0.94254	D	0.18316934	0.39571	0.12872668	0.30965	0.18316934	0.39571	0.12872668	0.30964	-4.389	0.29408	T	.	.	0.139	0.34116	B	.;.;.	.;.;.	4.920167	0.81031	27.5	0.99907126626179954	0.97726	0.97954	0.78397	D	AEFI	0.786371	0.71647	D	0.562222044573942	0.70828	5.55943	0.499381115073937	0.67949	5.153137	0.98438979290107	0.30709	0.732398	0.92422	0	0.743671	0.97443	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	3.31	3.31	0.37025	9.260000	0.94752	9.816000	0.81775	0.246000	0.18300	1.000000	0.71638	1.000000	0.68203	0.957000	0.51019	0.0:0.0:1.0:0.0	12.521	0.55403	824	0.40336	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.003793	0.000000	0.004144	0.000000	0.000000	0.000000	0.000000	0.004386	0.05	2874.43	232	chr16	14857532	.	G	A	2874.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=4.93;DP=560;ExcessHet=0;FS=5.634;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=40.44;MQRankSum=-1.09;QD=12.39;ReadPosRankSum=-0.232;SOR=1.038	GT:AD:DP:GQ:PL	0/1:126,106:232:99:2886,0,2825	9	0	1	0
chr16	15363876	15363876	T	A	exonic	NPIPA5	.	nonsynonymous SNV	NPIPA5:NM_001277325:exon8:c.A836T:p.D279V	.	426	1093	3	0	0	3	0.00137049	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.225	.	.	.	0.0064	0.0012	0.0020	0	0.0216	0.0082	0.0105	0.0016	0.0004226	11	26028	rs752982027	0.0006	0.0080	0.0006	0.0006	0.0006	0.0006	0.0006	0.0005	0.0005	0.0002	0.0004	0	0	0.0034	0	0.0006	0.0007	0.0002	0.0011	0.0050	0.0010	0.0012	0.0014	0.0010	0.0009	0.0011	0.0011	0.0005	0	0.0007	0.0003	0	0.0037	0	0.0014	0	0	0.486	0.08091	T	0.162	0.31225	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	2.56	0.74772	M	0.26	0.59314	T	-3.61	0.69477	D	0.157	0.16308	-0.9321	0.43829	T	0.169	0.50987	T	4	0.009144902	0.00207	T	.	.	.	0.225	0.52323	.	.	0.043077524339	0.03247	0.029962052812853596	0.02945	2.31341709288	0.96592	.	.	.	0.115638	0.43438	T	-0.451137	0.01112	T	-0.461337	0.26453	T	0.0557330697774887	0.06479	T	0.826617	0.49005	T	0.21010643	0.43298	0.17562784	0.40041	0.21010643	0.43298	0.17562784	0.40040	-7.7	0.59008	D	.	.	0.305	0.53386	B	.	.	1.262547	0.16608	12.65	0.94358312144439171	0.24714	0.00108	0.00689	N	AEFDI	0.048731	0.08346	N	-0.203761394976913	0.32978	1.865948	-0.331036794078318	0.27102	1.501542	1.64775418838586E-6	0.01202	0.693126	0.56070	0	0.659464	0.62310	0	0.659464	0.59346	0	0.564101	0.26826	0	.	.	.	.	.	0.138000	0.15838	-6.083000	0.01502	0.170000	0.17755	0.006000	0.17386	0.000000	0.08366	0.007000	0.07825	.	.	.	716	0.55970	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	335.43	676	chr16	15363876	.	T	A	335.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.321;DP=1048;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=54.84;MQRankSum=-3.541;QD=0.5;ReadPosRankSum=0.892;SOR=0.71	GT:AD:DP:GQ:PL	0/1:595,81:676:99:347,0,16532	9	0	1	0
chr16	16273795	16273795	A	G	exonic	NOMO2;NOMO3	.	nonsynonymous SNV	NOMO3:NM_001004067:exon19:c.A2161G:p.R721G,NOMO2:NM_173614:exon19:c.A2161G:p.R721G	.	95	129	0	2	0	4	0.0152672	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.160	0.0348921807291	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1409485748	0.0008	0.0008	0.0008	0.0009	0.0079	0.0008	0.0008	0.0052	0.0043	6.898e-05	0.0003	0.0015	0	2.912e-05	0.0079	0.0006	0.0012	0.0036	0.0005	0.0005	0.0010	0	0.0021	0	0	.	.	0	0	0	0	0	0	0	0.0021	0	0	0.161	0.26300	T	0.013	0.63918	D	0.982	0.60036	D	0.715	0.54683	P	0.000000	0.84330	D	0.000000	0.999997	0.58761	D	0	0.06538	N	3.64	0.04399	T	-0.95	0.25332	N	0.645	0.65844	-1.0958	0.04639	T	0.029	0.12234	T	10	0.10128394	0.18495	T	0.034892	0.55985	D	0.160	0.41473	0.263	0.20788	0.438593652726	0.43481	0.6076498977789883	0.60696	.	.	0.603942036629	0.53460	T	0.004737	0.09303	T	-0.356739	0.04318	T	-0.289822	0.45792	T	0.0926210135221481	0.11525	T	0.956104	0.83363	D	0.25034335	0.48035	0.16223365	0.37694	0.25034335	0.48035	0.16223365	0.37693	-5.107	0.37981	T	.	.	0.197	0.44384	B	.;.	.;.	3.155044	0.42722	21.6	0.98146118154868234	0.38647	0.77618	0.38184	D	AEFI	0.480565	0.52223	N	-0.161683254739873	0.34739	1.986566	-0.197022269048362	0.31645	1.792881	1.26429308109368E-6	0.01202	0.693126	0.56070	0	0.659464	0.62310	0	0.659464	0.59346	0	0.564101	0.26826	0	.	.	4.2	0.192	0.14415	1.099000	0.30625	2.008000	0.30152	0.748000	0.86766	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.5178:0.4822:0.0:0.0	11.619	0.50367	884	0.28482	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1429	99.89	5	chr16	16273795	.	A	G	99.89	.	AC=2;AF=0.143;AN=14;BaseQRankSum=1.28;DP=49;ExcessHet=0;FS=6.99;MLEAC=2;MLEAF=0.143;MQ=25.41;MQRankSum=0.253;QD=19.98;ReadPosRankSum=-1.282;SOR=3.229	GT:AD:DP:GQ:PL	1/1:1,4:5:5:112,5,0	6	1	0	3
chr16	18520877	18520877	T	C	exonic	NOMO2	.	nonsynonymous SNV	NOMO2:NM_001004060:exon19:c.A2161G:p.R721G,NOMO2:NM_173614:exon19:c.A2161G:p.R721G	.	420	1089	13	0	0	13	0.00593336	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.187	0.0279802166945	.	.	0.0008	0.0001	0.0002	0	0	0.0007	0.0033	0.0028	3.84e-05	1	26028	rs749051082	0.0005	0.0007	0.0004	0.0005	0.0051	0.0004	0.0004	0.0036	0.0031	5.975e-05	0.0003	0.0008	0	0	0.0051	0.0004	0.0007	0.0021	0.0003	0.0005	0.0004	0.0003	0.0010	0.0002	0.0002	0.0004	0.0003	4.809e-05	0	0.0003	0.0003	0	0	0.0068	0.0005	0.0009	0.0010	0.158	0.26629	T	0.013	0.92824	D	0.014	0.16867	B	0.009	0.14300	B	0.000000	0.84330	D	0.000000	0.999998	0.58761	D	0	0.06538	N	3.64	0.04399	T	-0.95	0.25332	N	0.837	0.86941	-0.7935	0.55526	T	0.013	0.05033	T	10	0.08753258	0.14987	T	0.02798	0.50720	D	0.187	0.46274	.	.	0.31077124679	0.30691	0.6336783096815357	0.63301	.	.	0.594283103943	0.52098	T	0.007539	0.06940	T	-0.347144	0.04909	T	-0.276973	0.47115	T	0.0347181973874079	0.02761	T	0.956104	0.83775	D	0.2227827	0.44885	0.1551629	0.36384	0.2227827	0.44885	0.1551629	0.36383	-5.099	0.41284	T	.	.	0.182	0.42906	B	.;.;.;.;.	.;.;.;.;.	2.522562	0.32602	19.09	0.97507598280086194	0.34331	0.75480	0.36958	D	AEFI	0.455969	0.50803	N	-0.365101523926914	0.26721	1.460499	-0.298532606994092	0.28146	1.567075	5.2496797031966E-6	0.01202	0.693126	0.56070	0	0.659464	0.62310	0	0.659464	0.59346	0	0.564101	0.26826	0	.	.	3.37	2.22	0.27116	1.235000	0.32274	1.258000	0.25213	0.319000	0.19345	1.000000	0.71638	1.000000	0.68203	0.651000	0.32720	0.0:0.0:0.1872:0.8128	9.019	0.35351	940	0.13648	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001144	0.000000	0.000000	0.000000	0.000000	0.000000	0.003497	0.004000	0.1	2391.14	301	chr16	18520877	.	T	C	2391.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-0.49;DP=913;ExcessHet=0.2348;FS=2.015;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=32.75;MQRankSum=-0.712;QD=4.19;ReadPosRankSum=1.12;SOR=0.523	GT:AD:DP:GQ:PL	0/1:214,87:301:99:1425,0,5237	8	0	2	0
chr16	21117270	21117270	T	A	exonic	DNAH3	.	stopgain	DNAH3:NM_001347886:exon12:c.A1567T:p.K523X,DNAH3:NM_017539:exon12:c.A1747T:p.K583X	.	423	1098	1	0	0	1	0.000455166	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.344103	0.13917	N	0.698819	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.171	0.18239	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.433096	0.91686	D	0.384336	0.91583	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive	High	7.346328	0.96421	36	0.99118143281297844	0.52906	0.35656	0.25352	N	AEFBHCI	0.089516	0.18143	N	0.278941667058162	0.55082	3.672592	0.0530209007992241	0.42217	2.549788	0.997817644787445	0.36062	0.554377	0.28877	0	0.588066	0.40923	0	0.527494	0.11647	0	0.503917	0.08554	0	.	.	5.39	1.64	0.22949	1.131000	0.31019	1.411000	0.26280	-0.120000	0.14102	0.972000	0.34453	0.966000	0.29516	0.891000	0.42908	0.2897:0.1754:0.0:0.5349	3.511	0.07268	462	0.78611	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	826.43	70	chr16	21117270	.	T	A	826.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.5;DP=379;ExcessHet=0;FS=0.912;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.81;ReadPosRankSum=0.717;SOR=0.499	GT:AD:DP:GQ:PL	0/1:35,35:70:99:838,0,845	9	0	1	0
chr16	21836303	21836303	A	G	exonic	NPIPB3;NPIPB4;NPIPB5	.	nonsynonymous SNV	NPIPB4:NM_001310148:exon8:c.T2084C:p.I695T,NPIPB4:NM_001384979:exon8:c.T2084C:p.I695T,NPIPB4:NM_001384980:exon8:c.T2084C:p.I695T,NPIPB5:NM_001135865:exon9:c.T1943C:p.I648T,NPIPB4:NM_001384981:exon9:c.T2075C:p.I692T,NPIPB4:NM_001384982:exon9:c.T2027C:p.I676T,NPIPB3:NM_130464:exon10:c.T2069C:p.I690T	.	771	749	2	0	0	2	0.00133333	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.048	0.0938210975575	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs1170398687	0.0014	0.0013	0.0011	0.0017	0.0064	0.0013	0.0013	0.0058	0.0055	0.0015	0.0028	0.0011	3.521e-05	0	0.0047	0.0007	0.0018	0.0064	0	0.0002	0	0	.	0	0	.	.	0	0	0	0	0	0	.	0	0	0	0.0	0.91255	D	0.135	0.34124	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.78	0.25678	T	-0.65	0.18877	N	0.186	0.20262	-0.8833	0.49497	T	0.083	0.32642	T	4	0.09875676	0.17877	T	0.093821	0.76141	D	0.048	0.13305	0.296	0.26041	0.128392430309	0.12331	1.8152977629532898E-4	0.00016	.	.	.	.	.	0.010807	0.09719	T	-0.255969	0.13376	T	-0.605458	0.12356	T	0.242944911122322	0.22554	T	0.548145	0.18826	T	0.09840026	0.23209	0.14596203	0.34597	0.09840026	0.23209	0.14596203	0.34596	-10.153	0.74823	D	.	.	0.968	0.89068	P	.	.	1.439857	0.18595	13.82	0.97652479577241391	0.35149	0.00110	0.00700	N	AEFI	0.023052	0.01233	N	-0.193946660724834	0.33386	1.893498	-0.319002122167645	0.27485	1.525467	1.09648973830877E-6	0.01202	0.487112	0.14033	0	0.547309	0.14657	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	.	.	.	0.165000	0.16380	-1.103000	0.06322	0.189000	0.17846	0.001000	0.13787	0.000000	0.08366	0.001000	0.02609	.	.	.	612	0.66786	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05556	310.05	27	chr16	21836303	.	A	G	310.05	.	AC=1;AF=0.056;AN=18;BaseQRankSum=1.52;DP=265;ExcessHet=0;FS=3.522;InbreedingCoeff=-0.0811;MLEAC=1;MLEAF=0.056;MQ=32.46;MQRankSum=-0.638;QD=11.48;ReadPosRankSum=0.611;SOR=0.132	GT:AD:DP:GQ:PL	0/1:15,12:27:99:321,0,417	8	0	1	1
chr16	22133039	22133039	C	A	exonic	VWA3A	.	nonsynonymous SNV	VWA3A:NM_173615:exon20:c.C2012A:p.A671D	.	429	1065	26	2	0	30	0.0138889	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.182	0.0208582834185	0.0002	0.000399361	0.0007	0	0.0002	0	0	0.0003	0.0048	0.0039	0.000608	94	154602	rs374069500	0.0004	0.0004	0.0002	0.0005	0.0049	0.0003	0.0003	0.0034	0.0031	0.0001	2.237e-05	0	5.038e-05	0	0.0049	0.0001	0.0006	0.0036	0.0003	0.0003	0.0002	0.0003	0.0033	0.0002	0.0002	0.0021	0.0017	0	0	0.0001	0	0.0002	0	0.0034	0.0002	0.0009	0.0033	0.016	0.53172	D	0.008	0.70582	D	0.999	0.77913	D	0.949	0.68658	D	0.000011	0.62929	D	0.064588	0.994438	0.81001	D	2.175	0.60977	M	2.08	0.49642	T	-3.36	0.75139	D	0.825	0.82057	-1.1573	0.00823	T	0.066	0.27260	T	10	0.016590983	0.00350	T	0.020858	0.43534	T	0.182	0.45420	.	.	0.381746406553	0.37788	0.7247431860439489	0.72418	0.290425186949	0.31450	0.509783446789	0.40192	T	0.052781	0.29257	T	-0.258757	0.13046	T	-0.146569	0.59547	T	0.101674999832226	0.12540	T	0.737426	0.35417	T	0.45108727	0.64109	0.3964381	0.64285	0.45108727	0.64110	0.3964381	0.64285	-15.395	0.96710	D	.	.	0.394	0.71148	A	.;.;.	.;.;.	3.539854	0.49704	22.8	0.99697703530154058	0.80385	0.77786	0.38287	D	AEFBI	0.238348	0.36049	N	0.42430062302623	0.62761	4.497519	0.415977930283627	0.62559	4.473425	0.00390546245915023	0.10332	0.497415	0.19182	0	0.59043	0.45803	0	0.573078	0.19857	0	0.542086	0.14980	0	.	.	5.49	5.49	0.81022	1.772000	0.38182	4.781000	0.44836	0.594000	0.32500	0.993000	0.37899	1.000000	0.68203	0.075000	0.16954	0.0:0.8375:0.0:0.1625	8.553	0.32621	447	0.79583	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.005539	0.000000	0.004076	0.008772	0.000000	0.017241	0.009146	0.003788	0.1	1710.14	48	chr16	22133039	.	C	A	1710.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=0.479;DP=435;ExcessHet=0.2348;FS=0;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=14.62;ReadPosRankSum=1.51;SOR=0.727	GT:AD:DP:GQ:PL	0/1:18,30:48:99:909,0,459	8	0	2	0
chr16	23215360	23215360	C	T	exonic	SCNN1G	.	nonsynonymous SNV	SCNN1G:NM_001039:exon13:c.C1841T:p.A614V	Bronchiectasis with or without elevated sweat chloride 3, Autosomal dominant;Liddle syndrome, Autosomal dominant;Pseudohypoaldosteronism, type I, Autosomal recessive	0	1518	4	0	0	4	0.00131579	.	.	.	874915	Pseudohypoaldosteronism,_type_IB1,_autosomal_recessive|Liddle_syndrome_2	MONDO:MONDO:0009917,MedGen:C5774176,OMIM:264350,Orphanet:171876,Orphanet:756|MONDO:MONDO:0020854,MedGen:C4748251,OMIM:618114	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.094	0.0295646647047	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1474666302	1.915e-05	1.915e-05	1.633e-05	2.2e-05	0.0010	1.328e-05	1.144e-05	0.0005	0.0003	0	0	3.826e-05	0	0	0.0010	1.349e-05	9.934e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.265	0.16305	T	0.124	0.35455	T	0.89	0.48942	P	0.307	0.41295	B	0.000502	0.43753	D	0.155060	0.747395	0.33890	D	1.895	0.50365	L	-0.58	0.71425	T	-0.77	0.21429	N	0.136	0.13341	-0.6891	0.60950	T	0.162	0.49715	T	10	0.25810558	0.43233	T	0.029565	0.52052	D	0.094	0.27141	0.185	0.09388	0.798924905932	0.79705	0.43498428848907045	0.43415	0.218044376501	0.24340	0.346513211727	0.17407	T	0.314605	0.68627	T	-0.0838847	0.39080	T	-0.342785	0.40030	T	0.262765675783157	0.23435	T	0.809719	0.46038	T	0.08715098	0.20283	0.12008012	0.28981	0.08715098	0.20282	0.12008012	0.28981	-3.168	0.12094	T	.	.	0.079	0.07412	B	.	.	1.906223	0.24211	16.31	0.99870254037185857	0.94815	0.90593	0.51898	D	AEFDBI	0.365323	0.45354	N	-0.0183584645376457	0.41026	2.446597	0.0814591199220723	0.43616	2.659755	0.99426484056221	0.33559	0.554377	0.28877	0	0.59043	0.45803	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	5.41	4.43	0.52967	2.336000	0.43597	3.278000	0.37209	0.599000	0.40250	0.999000	0.42656	0.998000	0.33993	0.233000	0.22815	0.0:0.8558:0.1442:0.0	14.897	0.70293	717	0.55835	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	3075.43	187	chr16	23215360	.	C	T	3075.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.624;DP=492;ExcessHet=0;FS=3.481;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=16.45;ReadPosRankSum=0.371;SOR=0.487	GT:AD:DP:GQ:PL	0/1:70,117:187:99:3087,0,1719	9	0	1	0
chr16	29485668	29485668	C	0	exonic	NPIPB12	.	.	.	.	580	711	64	0	167	231	0.0430686	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2778	700.3	110	chr16	29485668	.	C	*	700.3	.	AC=5;AF=0.278;AN=18;BaseQRankSum=-3.202;DP=1076;ExcessHet=7.0302;FS=13.803;InbreedingCoeff=-0.6;MLEAC=5;MLEAF=0.278;MQ=29.59;MQRankSum=-0.241;QD=0.96;ReadPosRankSum=-2.645;SOR=0.135	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:46,63:110:99:1|0:29485610_ACACACTC_A:2665,0,1403:29485610	4	0	5	1
chr16	30429948	30429948	G	C	exonic	DCTPP1	.	nonsynonymous SNV	DCTPP1:NM_024096:exon1:c.C33G:p.D11E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025	0.00165325703926	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	6.84e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.362	0.11844	T	0.91	0.02961	T	0.0	0.02946	B	0.001	0.04355	B	0.520127	0.05197	N	1.269000	1	0.19694	N	1.955	0.52871	M	.	.	.	0.01	0.06868	N	0.138	0.13626	-1.0163	0.24916	T	0.068	0.27777	T	9	0.041727006	0.02854	T	0.001653	0.02702	T	0.025	0.05312	0.083	0.00760	0.130388298395	0.12655	0.44272815429882256	0.44189	0.173881742231	0.19581	0.499369472265	0.38740	T	0.012976	0.11307	T	-0.322186	0.06720	T	-0.700574	0.05795	T	0.0607705085701298	0.07290	T	0.283372	0.04986	T	0.054680977	0.10523	0.04122553	0.04637	0.054680977	0.10522	0.04122553	0.04637	-2.425	0.05288	T	.	.	0.093	0.13923	B	.	.	0.387706	0.07593	4.253	0.87762683953483833	0.17463	0.08054	0.14029	N	AEFDGBHCI	0.140086	0.26189	N	-1.20390910222911	0.04942	0.2241752	-1.28543996772473	0.04627	0.2186732	0.999999999999925	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	4.53	-3.01	0.05132	0.063000	0.14285	0.265000	0.16590	0.618000	0.50648	0.000000	0.06391	0.000000	0.08366	0.024000	0.12247	0.1783:0.4671:0.224:0.1306	3.231	0.06348	219	0.91485	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	442.43	41	chr16	30429948	.	G	C	442.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.57;DP=360;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.79;ReadPosRankSum=0.424;SOR=0.804	GT:AD:DP:GQ:PL	0/1:24,17:41:99:454,0,577	9	0	1	0
chr16	31499358	31499358	C	T	exonic	RUSF1	.	nonsynonymous SNV	RUSF1:NM_022744:exon5:c.G544A:p.A182T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.204	0.0144975899288	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.122	0.29554	T	0.111	0.37173	T	0.592	0.39119	P	0.45	0.46092	P	0.000000	0.84330	D	0.000000	1	0.81001	D	.	.	.	1.12	0.38718	T	-2.05	0.47008	N	0.77	0.80180	-1.0857	0.06281	T	0.079	0.31314	T	10	0.48178387	0.60474	T	0.014498	0.34657	T	0.204	0.49076	0.496	0.58520	0.368743488249	0.36480	0.7741073043962954	0.77360	0.2742638541	0.29923	.	.	.	0.034361	0.23385	T	0.133476	0.67697	D	-0.0460469	0.67292	D	0.938335716724396	0.60886	D	0.907509	0.67561	D	0.19247292	0.40918	0.2061273	0.44812	0.19247292	0.40918	0.2061273	0.44811	-8.007	0.61118	D	.	.	0.345	0.56218	A	.;.;.;.;.	.;.;.;.;.	4.733321	0.76257	26.5	0.99877065165474666	0.95410	0.98552	0.84009	D	AEFBI	0.839281	0.75671	D	0.197891745168037	0.51097	3.293788	0.368573740516835	0.59635	4.142952	0.999999999999194	0.74766	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.92	5.92	0.95557	6.987000	0.75976	.	.	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:1.0:0.0:0.0	17.821	0.88562	318	0.87072	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	3906.43	337	chr16	31499358	.	C	T	3906.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.257;DP=666;ExcessHet=0;FS=0.823;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.59;ReadPosRankSum=-0.854;SOR=0.748	GT:AD:DP:GQ:PL	0/1:180,157:337:99:3918,0,4601	9	0	1	0
chr16	55484131	55484131	G	A	exonic	MMP2	.	nonsynonymous SNV	MMP2:NM_001127891:exon3:c.G346A:p.E116K,MMP2:NM_001302508:exon3:c.G268A:p.E90K,MMP2:NM_001302509:exon3:c.G268A:p.E90K,MMP2:NM_001302510:exon3:c.G268A:p.E90K,MMP2:NM_004530:exon3:c.G496A:p.E166K	Multicentric osteolysis, nodulosis, and arthropathy, Autosomal recessive	0	1509	13	0	0	13	0.00428901	.	.	.	489951	not_provided|MMP2-related_disorder|Multicentric_osteolysis_nodulosis_arthropathy_spectrum|not_specified	MedGen:C3661900|.|MONDO:MONDO:0018298,MedGen:C1850155,Orphanet:3460,Orphanet:371428|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.453	0.0558126407867	0.0013	0.000599042	0.0017	0.0003	0.0006	0	0	0.0016	0.0033	0.0051	0.0014877	230	154602	rs147947052	0.0010	0.0010	0.0009	0.0012	0.0049	0.0010	0.0010	0.0045	0.0043	0.0002	0.0011	0.0130	2.519e-05	0	0.0043	0.0005	0.0016	0.0049	0.0009	0.0009	0.0008	0.0010	0.0043	0.0008	0.0008	0.0029	0.0024	0.0002	0	0.0010	0.0110	0	0	0	0.0008	0.0028	0.0043	0.168	0.30375	T	0.443	0.13953	T	0.162	0.28404	B	0.17	0.35299	B	0.000001	0.62929	D	0.095042	1	0.81001	D	1.01	0.25309	L	-1.32	0.79761	T	-2.34	0.51811	N	0.719	0.72835	-0.4262	0.71190	T	0.360	0.72208	T	10	0.0143533945	0.00302	T	0.055813	0.66374	D	0.453	0.75279	.	.	0.840786602947	0.83926	0.8069268744023543	0.80647	0.579389971153	0.53813	0.724605500698	0.70718	T	0.025161	0.51152	T	-0.131899	0.31190	T	0.0392641	0.72879	D	0.0337904100887073	0.02603	T	0.680832	0.28956	T	0.48948255	0.66472	0.3693945	0.62210	0.5022539	0.67228	0.30771774	0.56792	-5.576	0.42573	T	0.1788736545351898	0.22947	0.185	0.44669	B	.;.;.;.;.;.	.;.;.;.;.;.	4.880554	0.80035	27.2	0.99895855964029645	0.96895	0.99132	0.91696	D	AEFDBI	0.942555	0.94729	D	0.168326751600445	0.49681	3.165908	0.32476345890307	0.56998	3.864285	1.0	0.98316	0.706298	0.61202	0	0.573888	0.26702	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	4.72	4.72	0.59248	10.003000	0.99689	11.877000	0.98731	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	18.053	0.89282	931	0.16308	.;Peptidase M10, metallopeptidase|Peptidase, metallopeptidase;Peptidase M10, metallopeptidase|Peptidase, metallopeptidase|Peptidase M10A, catalytic domain;Peptidase M10, metallopeptidase|Peptidase, metallopeptidase|Peptidase M10A, catalytic domain;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.005539	0.000000	0.004076	0.014620	0.000000	0.000000	0.000000	0.007576	0.05	2102.43	144	chr16	55484131	.	G	A	2102.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.216;DP=464;ExcessHet=0;FS=8.228;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.6;ReadPosRankSum=0.441;SOR=0.303	GT:AD:DP:GQ:PL	0/1:67,77:144:99:2114,0,1941	9	0	1	0
chr16	56682559	56682559	T	G	exonic	MT1X	.	nonsynonymous SNV	MT1X:NM_005952:exon1:c.T19G:p.C7G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.419	0.076850612576	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.68238	D	0.042	0.70582	D	0.997	0.70673	D	0.992	0.80445	D	.	.	.	.	0.999987	0.54805	D	.	.	.	1.37	0.34253	T	-8.85	0.97861	D	0.812	0.83781	-0.7629	0.57248	T	0.191	0.54374	T	8	0.9471299	0.94040	D	0.076851	0.72630	D	0.419	0.72855	0.718	0.85319	0.440182696023	0.43640	0.6373328117232706	0.63667	0.289516481914	0.31364	0.391585171223	0.23892	T	0.252914	0.67151	T	0.171834	0.71292	D	0.00905107	0.70921	D	0.970585763454437	0.69002	D	0.912209	0.68770	D	0.7126728	0.78754	0.6680104	0.80527	0.7126728	0.78756	0.6680104	0.80528	-10.997	0.79642	D	.	.	0.274	0.50736	B	.;.	.;.	4.453199	0.69239	25.3	0.97533697697855615	0.34475	0.85614	0.44765	D	AEFDGBHCI	0.833751	0.75191	D	0.373411060955149	0.59985	4.182805	0.286964690153079	0.54779	3.641809	0.999999999999959	0.74766	0.72623	0.87236	0	0.52208	0.09955	0	0.594344	0.31042	0	0.56214	0.19341	0	.	.	3.44	3.44	0.38486	2.978000	0.48996	0.284000	0.16799	0.587000	0.30956	1.000000	0.71638	0.119000	0.22882	0.227000	0.22653	0.0:0.0:0.0:1.0	8.482	0.32212	883	0.28872	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1864.43	180	chr16	56682559	.	T	G	1864.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.684;DP=501;ExcessHet=0;FS=1.163;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.36;ReadPosRankSum=-1.899;SOR=0.588	GT:AD:DP:GQ:PL	0/1:96,84:180:99:1876,0,2480	9	0	1	0
chr16	57474836	57474836	G	A	exonic	DOK4	.	nonsynonymous SNV	DOK4:NM_001330556:exon5:c.C556T:p.R186C,DOK4:NM_001369621:exon5:c.C556T:p.R186C,DOK4:NM_001369618:exon6:c.C556T:p.R186C,DOK4:NM_001369619:exon6:c.C556T:p.R186C,DOK4:NM_001369620:exon6:c.C556T:p.R186C,DOK4:NM_018110:exon6:c.C556T:p.R186C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.925	0.363294402673	.	.	2.505e-05	0	0	0	0	4.537e-05	0	0	1.94e-05	3	154602	rs745316420	1.368e-05	1.368e-05	1.497e-05	1.238e-05	2.319e-05	8.94e-06	7.26e-06	9.31e-06	7.61e-06	0	0	3.827e-05	0	0	0	1.529e-05	0	2.319e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	3.275	0.90144	M	-1.47	0.81067	T	-6.92	0.93366	D	0.949	0.96531	0.550	0.91233	D	0.700	0.89664	D	10	0.9841845	0.98598	D	0.363294	0.92565	D	0.925	0.98154	0.913	0.98308	0.999008699515	0.99899	0.7765300562604596	0.77603	1.17521237429	0.79859	0.88338381052	0.94411	D	0.919964	0.98560	D	0.360475	0.87291	D	0.376875	0.91318	D	0.991479873657227	0.81774	D	0.996925	0.98818	D	0.72654456	0.79528	0.4979548	0.70970	0.72654456	0.79530	0.4979548	0.70971	-9.473	0.70691	D	.	.	0.996	0.96282	P	.;.;.;.	.;.;.;.	6.016825	0.94351	34	0.99930352813849377	0.99334	0.97325	0.74040	D	AEFDGBHI	0.913072	0.87457	D	0.84200198301735	0.88648	9.657954	0.773737000153376	0.87915	9.390059	0.999999995965363	0.74766	0.706548	0.73137	0	0.611049	0.52481	0	0.697927	0.64325	0	0.714379	0.83352	0	.	.	5.06	5.06	0.67838	6.405000	0.73193	11.775000	0.95959	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.973000	0.55318	0.0:0.0:0.8332:0.1668	12.509	0.55341	624	0.65661	IRS-type PTB domain|IRS-type PTB domain|IRS-type PTB domain;IRS-type PTB domain|IRS-type PTB domain|IRS-type PTB domain;IRS-type PTB domain|IRS-type PTB domain|IRS-type PTB domain;IRS-type PTB domain|IRS-type PTB domain|IRS-type PTB domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1186.43	74	chr16	57474836	.	G	A	1186.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.4;DP=434;ExcessHet=0;FS=1.962;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=16.03;ReadPosRankSum=0.99;SOR=0.493	GT:AD:DP:GQ:PL	0/1:33,41:74:99:1198,0,828	9	0	1	0
chr16	57528870	57528870	T	C	exonic	CCDC102A	.	nonsynonymous SNV	CCDC102A:NM_033212:exon2:c.A308G:p.N103S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.162	0.836103310374	.	.	1.16e-05	0	0	0.0001	0	0	0	0	6.5e-06	1	154602	rs781748241	3.285e-06	1.642e-05	0	6.656e-06	7.947e-05	7.7e-07	5.2e-07	1.315e-05	4.92e-06	0	0	0	7.947e-05	0	0	2.03e-06	0	0	1.359e-05	1.32e-05	1.324e-05	1.395e-05	0.0002	2.26e-06	8.5e-07	.	.	0	0	0	0	0	0	0	1.511e-05	0	0.0002	0.007	0.59928	D	0.038	0.51421	D	0.999	0.77913	D	0.994	0.82059	D	0.000087	0.51296	D	0.124525	0.98588	0.40348	D	2.38	0.68558	M	0.74	0.50459	T	-4.07	0.74661	D	0.21	0.23380	-0.8112	0.54478	T	0.195	0.54884	T	10	0.44682914	0.58449	T	0.836103	0.98731	D	0.162	0.41843	0.219	0.14078	0.69135241514	0.68870	0.6733818407923545	0.67276	2.16590570783	0.95413	0.881299376488	0.94135	D	0.243094	0.61196	T	-0.173902	0.24645	T	-0.487574	0.23645	T	0.955727100372314	0.64579	D	0.913309	0.69109	D	0.314218	0.54148	0.19807044	0.43621	0.314218	0.54148	0.19807044	0.43620	-5.663	0.43363	T	.	.	0.194	0.41480	B	.	.	5.358615	0.89866	31	0.99767940966888569	0.85666	0.93193	0.57568	D	AEFDBCI	0.475257	0.51917	N	0.502484925023641	0.67237	5.054874	0.466356727517421	0.65774	4.866451	0.999999900922469	0.74766	0.646311	0.45356	0	0.633656	0.55848	0	0.52208	0.10781	0	0.699875	0.68795	0	.	.	4.82	3.7	0.41607	3.120000	0.50123	5.803000	0.49951	0.550000	0.28109	1.000000	0.71638	1.000000	0.68203	0.927000	0.46353	0.0:0.088:0.1618:0.7501	6.037	0.18940	788	0.46569	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	617.43	64	chr16	57528870	.	T	C	617.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.45;DP=368;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.65;ReadPosRankSum=-0.007;SOR=0.818	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:32,32:64:99:0|1:57528870_T_C:629,0,600:57528870	9	0	1	0
chr16	69692514	69692516	CAA	-	exonic	NFAT5	.	nonframeshift deletion	NFAT5:NM_001367709:exon12:c.2014_2016del:p.Q681del,NFAT5:NM_006599:exon12:c.2635_2637del:p.Q888del,NFAT5:NM_001113178:exon13:c.2686_2688del:p.Q905del,NFAT5:NM_138713:exon13:c.2689_2691del:p.Q906del,NFAT5:NM_173214:exon13:c.2407_2409del:p.Q812del,NFAT5:NM_173215:exon13:c.2407_2409del:p.Q812del,NFAT5:NM_138714:exon14:c.2407_2409del:p.Q812del	.	399	1117	6	0	0	6	0.00267857	.	.	.	466617	NFAT5-related_disorder|Immunodeficiency	.|Human_Phenotype_Ontology:HP:0002721,Human_Phenotype_Ontology:HP:0005362,Human_Phenotype_Ontology:HP:0005371,MONDO:MONDO:0021094,MedGen:C0021051,OMIM:PS300755	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	.	.	0.0014	0.000998403	0.0014	0.0005	0.0002	0	0.0036	0.0020	0.0011	6.058e-05	0.0008068	21	26028	rs542353221	0.0014	0.0014	0.0014	0.0014	0.0017	0.0013	0.0013	0.0014	0.0014	0.0002	0.0002	0.0044	0	0.0026	0.0017	0.0015	0.0017	0.0001	0.0011	0.0011	0.0010	0.0013	0.0013	0.0010	0.0010	0.0011	0.0010	0.0003	0.0011	0.0002	0.0043	0	0.0043	0	0.0013	0.0019	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002014	0.000000	0.001359	0.002924	0.000000	0.000000	0.003049	0.003788	0.1	4364.1	160	chr16	69692513	.	TCAA	T	4364.1	.	AC=2;AF=0.1;AN=20;BaseQRankSum=2.18;DP=580;ExcessHet=0.2348;FS=8.259;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=15.7;ReadPosRankSum=1.23;SOR=0.633	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:81,79:160:99:0|1:69692513_TCAA_T:2429,0,2911:69692513	8	0	2	0
chr16	70156667	70156667	C	T	exonic	PDPR	.	nonsynonymous SNV	PDPR:NM_001322118:exon17:c.C2128T:p.R710C,PDPR:NM_001322119:exon17:c.C1222T:p.R408C,PDPR:NM_001322117:exon19:c.C2428T:p.R810C,PDPR:NM_017990:exon19:c.C2428T:p.R810C	.	411	1064	47	0	0	47	0.0216092	.	.	.	3214454	not_provided|PDPR-related_disorder	MedGen:C3661900|.	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.593	.	0.0056	0.00419329	0.0061	0.0051	0.0043	0.0002	0.0018	0.0076	0.0156	0.0065	0.0056209	869	154602	rs141395281	0.0049	0.0062	0.0048	0.0050	0.0207	0.0048	0.0048	0.0177	0.0165	0.0054	0.0050	0.0219	7.557e-05	0.0009	0.0207	0.0046	0.0071	0.0057	0.0054	0.0063	0.0056	0.0052	0.0062	0.0051	0.0050	0.0051	0.0049	0.0048	0	0.0062	0.0196	0.0006	0.0006	0.0377	0.0056	0.0171	0.0058	0.0	0.91255	D	0.0	0.92824	D	0.344	0.33532	B	0.108	0.31289	B	0.000002	0.62929	D	0.060606	1	0.81001	D	1.425	0.35738	L	-1.17	0.78199	T	-4.37	0.81835	D	0.76	0.91162	-0.2061	0.77514	T	0.364	0.72506	T	10	0.008982539	0.00203	T	.	.	.	0.593	0.83802	.	.	0.843224510663	0.84172	0.8173182629007808	0.81688	0.371021257662	0.38606	0.767588675022	0.77064	T	0.34377	0.86264	T	0.037008	0.56652	T	0.282856	0.87274	D	0.0339612259325702	0.02631	T	0.961904	0.90356	D	0.41766918	0.61936	0.32478216	0.58399	0.43338367	0.62974	0.32478216	0.58399	-7.755	0.59389	D	.	.	0.195	0.44358	B	.;.;.;.;.	.;.;.;.;.	4.635750	0.73751	26.0	0.98498878817887714	0.42192	0.95003	0.63085	D	AEFDGBCI	0.788991	0.71831	D	0.280073968342618	0.55139	3.678235	0.379189621332959	0.60284	4.214227	0.999999999993714	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.697927	0.64325	0	0.714379	0.83352	0	.	.	6.03	6.03	0.97798	4.756000	0.61902	7.546000	0.60178	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.638000	0.32368	0.1473:0.8526:0.0:0.0	14.406	0.66651	172	0.93355	Glycine cleavage T-protein, C-terminal barrel domain;Glycine cleavage T-protein, C-terminal barrel domain;Glycine cleavage T-protein, C-terminal barrel domain;Glycine cleavage T-protein, C-terminal barrel domain;Glycine cleavage T-protein, C-terminal barrel domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.033736	0.030303	0.047554	0.043860	0.000000	0.034483	0.030488	0.007576	0.1	3976.14	399	chr16	70156667	.	C	T	3976.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=3.25;DP=1210;ExcessHet=0.2348;FS=0.618;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=4.69;ReadPosRankSum=0.903;SOR=0.755	GT:AD:DP:GQ:PL	0/1:305,94:399:99:1999,0,8048	8	0	2	0
chr16	72056631	72056631	G	A	exonic	HP	.	nonsynonymous SNV	HP:NM_001318138:exon3:c.G190A:p.G64R,HP:NM_005143:exon3:c.G190A:p.G64R	.	.	.	.	.	.	.	.	0.9976	0.942	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.25	78.84	10	chr16	72056631	.	G	A	78.84	.	AC=1;AF=0.25;AN=4;BaseQRankSum=0.992;DP=82;ExcessHet=0;FS=0;InbreedingCoeff=-0.2248;MLEAC=2;MLEAF=0.5;MQ=40;MQRankSum=0;QD=7.88;ReadPosRankSum=2.1;SOR=0.412	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:6,4:10:82:0|1:72056630_T_C:82,0,178:72056630	1	0	1	8
chr16	77293108	77293108	G	A	exonic	ADAMTS18	.	nonsynonymous SNV	ADAMTS18:NM_001326358:exon20:c.C2641T:p.R881W,ADAMTS18:NM_199355:exon20:c.C3157T:p.R1053W	Microcornea, myopic chorioretinal atrophy, and telecanthus, Autosomal recessive	0	1509	12	1	0	14	0.00461741	.	.	.	740354	ADAMTS18-related_disorder|not_provided|Retinitis_pigmentosa|Microcornea-myopic_chorioretinal_atrophy	.|MedGen:C3661900|Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:791|MONDO:MONDO:0014195,MedGen:C3809567,OMIM:615458,Orphanet:369970	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.340	0.102154903483	0.0012	0.00159744	0.0015	0	0.0009	0.0007	0	0.0024	0	0.0007	0.0015524	240	154602	rs148703569	0.0015	0.0015	0.0014	0.0016	0.0059	0.0015	0.0014	0.0043	0.0038	0.0004	0.0016	0.0026	0.0007	3.744e-05	0.0059	0.0016	0.0022	0.0008	0.0013	0.0013	0.0013	0.0013	0.0021	0.0011	0.0011	0.0018	0.0017	0.0002	0	0.0014	0.0032	0.0008	9.441e-05	0.0034	0.0021	0.0005	0.0010	0.001	0.78490	D	0.022	0.57587	D	0.996	0.68779	D	0.776	0.57120	P	0.000140	0.49741	D	0.127015	0.999372	0.46831	D	2.8	0.81625	M	0.13	0.60973	T	-3.71	0.70674	D	0.763	0.76111	-0.4737	0.69594	T	0.237	0.60403	T	10	0.03735739	0.02085	T	0.102155	0.77546	D	0.340	0.66202	.	.	0.74347698931	0.74117	0.6086171890107255	0.60793	.	.	0.39048397541	0.23738	T	0.115531	0.43418	T	-0.12544	0.32237	T	0.04118	0.73005	D	0.0719420581854792	0.08921	T	0.920408	0.71216	D	0.2973393	0.52665	0.29442412	0.55473	0.2973393	0.52665	0.29442412	0.55472	-11.046	0.79910	D	.	.	0.171	0.37558	B	.	.	4.465570	0.69536	25.4	0.99918335625753507	0.98586	0.91273	0.53202	D	AEFBI	0.708388	0.66281	D	0.151329574842158	0.48875	3.094435	0.169294759937076	0.48174	3.036878	0.999993647763845	0.74766	0.562547	0.31514	0	0.59043	0.45803	0	0.573078	0.19857	0	0.635551	0.53088	0	.	.	6.03	5.06	0.67838	2.940000	0.48695	7.387000	0.58489	0.671000	0.69459	0.997000	0.40164	1.000000	0.68203	0.249000	0.23237	0.0:0.0:0.7014:0.2986	13.213	0.59260	848	0.35897	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.007049	0.000000	0.009511	0.011696	0.000000	0.000000	0.012195	0.003788	0.05	1139.43	95	chr16	77293108	.	G	A	1139.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.48;DP=408;ExcessHet=0;FS=1.664;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.99;ReadPosRankSum=0.362;SOR=0.538	GT:AD:DP:GQ:PL	0/1:50,45:95:99:1151,0,1143	9	0	1	0
chr16	81238944	81238944	G	C	exonic	BCO1	.	nonsynonymous SNV	BCO1:NM_017429:exon1:c.G36C:p.Q12H	Hypercarotenemia and vitamin A deficiency, autosomal dominant, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.189	0.0417742597857	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.628	0.05635	T	0.565	0.09205	T	0.007	0.14184	B	0.006	0.12133	B	0.001581	0.38612	N	0.300651	0.999985	0.30468	N	0.415	0.12483	N	-3.53	0.94764	D	-0.52	0.16187	N	0.069	0.04547	-0.1601	0.78668	T	0.649	0.87758	D	10	0.06381595	0.08372	T	0.041774	0.60110	D	0.189	0.46613	0.288	0.24761	0.578844998551	0.57554	0.6634242674215911	0.66279	0.0539382263776	0.05956	0.381477892399	0.22466	T	0.436539	0.78289	T	0.026814	0.55296	T	-0.19926	0.54716	T	0.0803482981846404	0.10032	T	0.610839	0.23175	T	0.09214179	0.21610	0.07128584	0.15248	0.09214179	0.21610	0.07128584	0.15247	-4.567	0.31754	T	0.08872912814297827	0.05348	0.134	0.45954	B	.;.	.;.	-0.839032	0.01033	0.043	0.33011606022178358	0.01944	0.04134	0.09615	N	AEFDBCI	0.060737	0.11564	N	-1.20566071799988	0.04916	0.2229342	-1.25482122587623	0.05060	0.2402081	0.999992510970697	0.74766	0.369785	0.05700	0	0.475579	0.06741	0	0.449817	0.06638	2	0.651492	0.60203	0	.	.	5.39	-1.54	0.08130	-1.818000	0.01811	-0.881000	0.07064	-0.681000	0.04224	0.000000	0.06391	0.000000	0.08366	0.044000	0.14658	0.4485:0.214:0.3375:0.0	5.193	0.14543	940	0.13648	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	806.43	71	chr16	81238944	.	G	C	806.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.745;DP=401;ExcessHet=0;FS=3.338;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.36;ReadPosRankSum=0.392;SOR=1.136	GT:AD:DP:GQ:PL	0/1:38,33:71:99:818,0,888	9	0	1	0
chr16	81923570	81923570	A	G	exonic	PLCG2	.	nonsynonymous SNV	PLCG2:NM_002661:exon22:c.A2393G:p.N798S	Autoinflammation, antibody deficiency, and immune dysregulation syndrome, Autosomal dominant;Familial cold autoinflammatory syndrome 3, Autosomal dominant	0	1510	11	1	0	13	0.00428619	.	.	.	703845	PLCG2-related_disorder|not_provided|Familial_cold_autoinflammatory_syndrome_3	.|MedGen:C3661900|MONDO:MONDO:0013766,MedGen:C3280914,OMIM:614468,Orphanet:300359	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.476	0.0442979514588	0.0004	0.000798722	0.0007	0	9.084e-05	0	0.0002	0.0007	0.0011	0.0019	0.000608	94	154602	rs117077093	0.0007	0.0007	0.0007	0.0007	0.0015	0.0006	0.0006	0.0013	0.0012	5.978e-05	0.0002	0	0	0.0002	0.0014	0.0007	0.0006	0.0015	0.0007	0.0007	0.0006	0.0007	0.0025	0.0006	0.0005	0.0014	0.0011	7.221e-05	0.0253	0.0006	0	0	9.42e-05	0	0.0007	0.0014	0.0025	0.002	0.72154	D	0.071	0.44302	T	1.0	0.90584	D	0.998	0.88582	D	0.000000	0.84330	D	0.000000	1	0.81001	D	1.875	0.49914	L	0.76	0.49919	T	-4.75	0.80256	D	0.825	0.84401	-0.1592	0.78691	T	0.365	0.72537	T	10	0.06981483	0.10070	T	0.044298	0.61417	D	0.476	0.76816	.	.	0.8196176207	0.81791	0.7171844580215215	0.71661	0.844674069954	0.68227	0.630396425724	0.57201	T	0.474064	0.80567	T	-0.440621	0.01283	T	-0.424712	0.30537	T	0.184326552463704	0.19503	T	0.872513	0.57956	D	0.6822966	0.77093	0.69194406	0.81870	0.6822966	0.77094	0.69194406	0.81871	-7.494	0.57568	T	.	.	0.182	0.39528	B	.;.	.;.	4.207665	0.63548	24.6	0.99895795541546184	0.96895	0.98417	0.82562	D	AEFBCI	0.934112	0.92700	D	0.916291176346248	0.92533	11.47889	0.864534725077621	0.93836	12.31431	0.999999997642259	0.74766	0.706298	0.61202	0	0.702456	0.74545	0	0.709663	0.75317	0	0.655142	0.61905	0	.	.	5.55	5.55	0.83298	8.818000	0.91619	10.951000	0.84400	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	1.0:0.0:0.0:0.0	15.696	0.77261	912	0.21483	SH3 domain|SH3 domain|SH3 domain|Pleckstrin homology domain|SH3 domain|1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase gamma-2, SH3 domain;SH3 domain|SH3 domain|SH3 domain|Pleckstrin homology domain|SH3 domain|1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase gamma-2, SH3 domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.001007	0.000000	0.000000	0.000000	0.000000	0.000000	0.006098	0.000000	0.05	1726.43	121	chr16	81923570	.	A	G	1726.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.538;DP=465;ExcessHet=0;FS=1.465;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.27;ReadPosRankSum=0.968;SOR=0.902	GT:AD:DP:GQ:PL	0/1:55,66:121:99:1738,0,1293	9	0	1	0
chr16	87708392	87708392	C	T	exonic	KLHDC4	.	nonsynonymous SNV	KLHDC4:NM_001184854:exon9:c.G1351A:p.D451N,KLHDC4:NM_001184856:exon10:c.G1429A:p.D477N,KLHDC4:NM_001351938:exon10:c.G979A:p.D327N,KLHDC4:NM_001351937:exon11:c.G979A:p.D327N,KLHDC4:NM_017566:exon11:c.G1522A:p.D508N	.	420	1101	1	0	0	1	0.000453926	.	.	.	2235915	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.079	0.00585699620313	0.0013	0.000199681	0.0006	0.0004	0.0002	0	0.0002	0.0010	0	0	0.0006404	99	154602	rs138909472	0.0011	0.0011	0.0011	0.0012	0.0014	0.0011	0.0011	0.0013	0.0013	8.966e-05	8.958e-05	0	0	0.0002	0.0003	0.0014	0.0007	0.0002	0.0012	0.0012	0.0013	0.0010	0.0017	0.0010	0.0010	0.0014	0.0013	0.0003	0.0538	0.0003	0	0	9.418e-05	0	0.0017	0	0.0002	0.236	0.17940	T	0.005	0.72224	D	0.188	0.36269	B	0.05	0.25278	B	0.078979	0.21012	N	0.548730	1	0.08975	N	1.935	0.51832	L	3.25	0.11947	T	-2.0	0.46673	N	0.263	0.29774	-1.0388	0.17678	T	0.029	0.12234	T	10	0.0041535497	0.00082	T	0.005857	0.15251	T	0.079	0.23065	.	.	0.40146981186	0.39757	0.06088696258434724	0.06028	0.0127159060618	0.01221	0.420483916998	0.27902	T	0.044466	0.26823	T	-0.598028	0.00150	T	-0.65643	0.08509	T	0.0554464290044321	0.06431	T	0.584642	0.21276	T	0.090958044	0.21301	0.0496453	0.07628	0.090958044	0.21301	0.0496453	0.07628	-5.5	0.43057	T	.	.	0.097	0.16231	B	.;.;.	.;.;.	1.716924	0.21862	15.38	0.98999604428730203	0.50127	0.48198	0.28153	N	AEFDBI	0.109836	0.21803	N	-0.502812220330571	0.21988	1.170967	-0.52903631059167	0.21365	1.155479	0.999954358850521	0.48110	0.67177	0.52595	0	0.702456	0.74545	0	0.723109	0.80598	0	0.711	0.71501	0	.	.	4.58	4.58	0.56077	1.338000	0.33478	1.107000	0.24123	0.530000	0.24713	0.113000	0.23048	0.004000	0.18990	0.002000	0.04165	0.0:1.0:0.0:0.0	14.469	0.67080	958	0.09170	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.05	1140.43	85	chr16	87708392	.	C	T	1140.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.41;DP=398;ExcessHet=0;FS=3.009;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.42;ReadPosRankSum=0.066;SOR=1.04	GT:AD:DP:GQ:PL	0/1:44,41:85:99:1152,0,1182	9	0	1	0
chr16	88427532	88427532	G	A	exonic	ZNF469	.	nonsynonymous SNV	ZNF469:NM_001367624:exon3:c.G62A:p.R21H	Brittle cornea syndrome 1, Autosomal recessive	0	1494	27	1	0	29	0.0096122	.	.	.	326618	Cardiovascular_phenotype|not_specified|Ehlers-Danlos_syndrome|Brittle_cornea_syndrome_1|not_provided	MedGen:CN230736|MedGen:CN169374|MONDO:MONDO:0020066,MedGen:C0013720,OMIM:PS130000,Orphanet:98249|MONDO:MONDO:0024543,MedGen:C0268344,OMIM:229200,Orphanet:90354|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.072	.	.	0.00499201	0.0118	0.0057	0.0214	0	0	0.0182	0.0263	0.0091	0.0023674	366	154602	rs145178398	0.0081	0.0077	0.0081	0.0081	0.0088	0.0080	0.0079	0.0087	0.0086	0.0013	0.0036	0.0157	0	0.0043	0.0034	0.0088	0.0069	0.0074	0.0058	0.0058	0.0058	0.0058	0.0086	0.0055	0.0054	0.0080	0.0078	0.0017	0.0044	0.0059	0.0153	0	0.0036	0.0034	0.0086	0.0057	0.0066	0.18	0.22400	T	0.009	0.66756	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	2.24	0.17923	T	0.03	0.06612	N	0.05	0.05037	-1.0338	0.19236	T	0.012	0.04463	T	9	0.0037742555	0.00070	T	.	.	.	0.072	0.21020	.	.	0.664396564672	0.66157	0.06809096253003429	0.06747	.	.	0.399574637413	0.25009	T	0.004883	0.04301	T	-0.601046	0.00144	T	-0.625107	0.10788	T	0.0113616910780997	0.00169	T	0.537446	0.18074	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.077	0.10256	B	.;.	.;.	2.206932	0.28152	17.70	0.97222968793600684	0.32910	0.10005	0.15628	N	AEFBI	0.117775	0.23058	N	-0.452251600634593	0.23662	1.272334	-0.448637441627505	0.23587	1.287103	0.0212846817170094	0.13335	0.554377	0.28877	0	0.547309	0.14657	0	0.576033	0.28219	0	0.567892	0.33627	0	.	.	3.58	2.39	0.28492	0.536000	0.22838	4.257000	0.42787	0.618000	0.50648	0.001000	0.13787	0.979000	0.30280	0.537000	0.29868	0.0:0.0:0.5964:0.4036	7.378	0.26015	.	.	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.05	1080.43	71	chr16	88427532	.	G	A	1080.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.548;DP=397;ExcessHet=0;FS=2.09;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=15.22;ReadPosRankSum=1.1;SOR=0.446	GT:AD:DP:GQ:PL	0/1:26,45:71:99:1092,0,518	9	0	1	0
chr16	88435973	88435973	G	C	exonic	ZNF469	.	nonsynonymous SNV	ZNF469:NM_001367624:exon3:c.G8503C:p.E2835Q	Brittle cornea syndrome 1, Autosomal recessive	0	1485	33	4	0	41	0.0136167	.	.	.	326712	ZNF469-related_disorder|Cardiovascular_phenotype|Brittle_cornea_syndrome_1|Ehlers-Danlos_syndrome|not_specified|not_provided	.|MedGen:CN230736|MONDO:MONDO:0024543,MedGen:C0268344,OMIM:229200,Orphanet:90354|MONDO:MONDO:0020066,MedGen:C0013720,OMIM:PS130000,Orphanet:98249|MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.021	0.381191108686	.	0.00139776	0.0038	0.0007	0.0028	0	0	0.0026	0	0.0058	0.0005757	89	154602	rs200153921	0.0011	0.0010	0.0009	0.0012	0.0227	0.0010	0.0010	0.0195	0.0183	0.0009	0.0011	0.0043	0	0	0.0227	0.0006	0.0021	0.0047	0.0010	0.0010	0.0009	0.0011	0.0052	0.0009	0.0008	0.0036	0.0031	0.0002	0	0.0010	0.0046	0	9.407e-05	0.0272	0.0010	0.0038	0.0052	0.271	0.15984	T	0.07	0.43721	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	3.24	0.06845	T	-0.76	0.21215	N	0.029	0.00666	-0.9278	0.44458	T	0.010	0.03765	T	9	0.0073034167	0.00166	T	0.381191	0.92975	D	0.021	0.04004	.	.	0.0297737177859	0.01360	0.10078178713489579	0.10009	.	.	0.251232206821	0.03898	T	0.01889	0.15149	T	-0.655829	0.00067	T	-0.714563	0.05063	T	0.0054582720408137	0.00059	T	0.49515	0.15352	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.081	0.08560	B	.;.	.;.	0.162934	0.05532	1.993	0.96003666688408718	0.28422	0.01458	0.04877	N	AEFDBI	0.043533	0.06895	N	-1.16904501798776	0.05473	0.2496227	-1.25720120207156	0.05025	0.2384723	0.974507050025547	0.29548	0.646311	0.45356	0	0.547309	0.14657	0	0.576033	0.28219	0	0.699875	0.68795	0	.	.	4.9	-5.55	0.02336	-0.080000	0.11303	0.627000	0.20189	0.676000	0.76740	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.2731:0.4976:0.2293:0.0	6.893	0.23424	.	.	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.019737	0.000000	0.037313	0.017544	0.083333	0.041667	0.020548	0.012195	0.05	2763.43	215	chr16	88435973	.	G	C	2763.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.359;DP=1066;ExcessHet=0;FS=1.049;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.85;ReadPosRankSum=-3.002;SOR=0.604	GT:AD:DP:GQ:PL	0/1:105,110:215:99:2775,0,2648	9	0	1	0
chr16	88678609	88678609	A	G	exonic	SNAI3	.	nonsynonymous SNV	SNAI3:NM_178310:exon3:c.T718C:p.S240P	.	423	1098	1	0	0	1	0.000455166	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.017	0.00308581833417	.	.	0.0001	0	0	0	0	0	0	0.0009	9.06e-05	14	154602	rs756830843	9.055e-05	7.976e-05	5.83e-05	0.0001	0.0010	7.534e-05	6.988e-05	0.0007	0.0007	0	0	0	0	0	0.0010	2.364e-05	2.168e-05	0.0009	4.599e-05	4.596e-05	1.284e-05	8.07e-05	0.0012	2.109e-05	1.527e-05	0.0005	0.0004	0	0	0	0	0	0	0	1.47e-05	0	0.0012	1.0	0.00964	T	0.562	0.09052	T	0.002	0.09854	B	0.003	0.08700	B	0.071601	0.21463	N	0.488750	0.914336	0.27437	N	-0.225	0.03956	N	3.16	0.07711	T	0.0	0.07008	N	0.085	0.06190	-0.9644	0.38330	T	0.011	0.03949	T	10	0.013599247	0.00288	T	0.003086	0.06666	T	0.017	0.02790	0.298	0.26362	0.101711395817	0.09552	.	.	0.102752772597	0.11625	0.43028151989	0.29247	T	0.00956	0.08696	T	-0.57669	0.00202	T	-0.686656	0.06585	T	0.0115443713626257	0.00174	T	0.591441	0.21800	T	0.07785037	0.17695	0.094383836	0.22339	0.07785037	0.17695	0.094383836	0.22338	-2.008	0.03211	T	.	.	0.185	0.39999	B	.	.	0.335339	0.07092	3.663	0.62144538025631235	0.06888	0.52933	0.29250	D	AEFGBCI	0.050238	0.08761	N	-1.07549923926784	0.07098	0.3286794	-1.00381156188531	0.09702	0.4841763	0.446362504946642	0.20500	0.634777	0.41761	0	0.643519	0.57511	0	0.643519	0.47002	0	0.530356	0.10902	0	.	.	5.09	-2.16	0.06684	0.001000	0.12940	-0.266000	0.10387	-0.137000	0.12594	0.734000	0.28964	0.004000	0.18990	0.478000	0.28520	0.6251:0.0:0.3749:0.0	10.242	0.42499	824	0.40336	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	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003817	0.05	1383.43	106	chr16	88678609	.	A	G	1383.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.02;DP=435;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.05;ReadPosRankSum=-0.247;SOR=0.669	GT:AD:DP:GQ:PL	0/1:50,56:106:99:1395,0,1252	9	0	1	0
chr16	88715213	88715213	C	G	exonic	CTU2	.	nonsynonymous SNV	CTU2:NM_001012762:exon14:c.C1451G:p.S484C,CTU2:NM_001318513:exon14:c.C1249G:p.L417V,CTU2:NM_001012759:exon15:c.C1510G:p.L504V,CTU2:NM_001318507:exon15:c.C1723G:p.L575V	.	421	1100	1	0	0	1	0.000454339	.	.	YES	1706579	See_cases	.	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.016	0.0232201841752	.	.	0.0001	0	0	0	0	1.531e-05	0	0.0008	9.7e-05	15	154602	rs770524689	7.465e-05	7.456e-05	5.452e-05	9.5e-05	0.0010	6.322e-05	5.88e-05	0.0007	0.0006	0	0	0	0	0	0.0010	2.428e-05	6.627e-05	0.0008	3.943e-05	3.94e-05	1.285e-05	6.727e-05	0.0010	1.716e-05	1.13e-05	0.0004	0.0003	0	0	0	0	0	0	0	1.47e-05	0	0.0010	0.009	0.91255	D	0.0	0.92824	D	0.999	0.77913	D	0.994	0.82059	D	0.000730	0.42129	D	0.160224	0.719786	0.29933	N	.	.	.	0.7	0.51474	T	-2.2	0.56301	N	0.258	0.39760	-1.0754	0.08266	T	0.031	0.13199	T	9	0.02735123	0.00883	T	0.02322	0.46168	T	0.134	0.36365	0.386	0.40624	0.212008924253	0.20833	0.40476075127382755	0.40392	.	.	0.4127368927	0.26836	T	0.14522	0.68652	T	-0.323415	0.06621	T	-0.326495	0.41858	T	0.277522504329681	0.24067	T	0.60284	0.22604	T	0.11884268	0.27992	0.11486334	0.27728	0.11884268	0.27992	0.11486334	0.27727	-8.762	0.66152	D	0.567676564178102	0.63502	0.102	0.25265	B	.;.;.	.;.;.	2.622840	0.34091	19.53	0.80740156092123794	0.13346	0.52410	0.29125	D	AEFGBCI	0.116459	0.22856	N	-0.639155179184892	0.17777	0.9176416	-0.659068469292143	0.17988	0.958949	0.968225558084702	0.29036	0.67177	0.52595	0	0.702456	0.74545	0	0.723109	0.80598	0	0.711	0.71501	0	.	.	5.19	2.75	0.31439	0.451000	0.21492	0.724000	0.21035	0.599000	0.40250	0.003000	0.16062	0.117000	0.22861	0.090000	0.17789	0.0:0.6846:0.1809:0.1344	6.460	0.21153	895	0.25842	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001009	0.000000	0.000000	0.000000	0.000000	0.008621	0.000000	0.003817	0.05	1301.43	104	chr16	88715213	.	C	G	1301.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.794;DP=464;ExcessHet=0;FS=5.032;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.51;ReadPosRankSum=0.332;SOR=1.199	GT:AD:DP:GQ:PL	0/1:53,51:104:99:1313,0,1281	9	0	1	0
chr16	88723954	88723954	A	G	exonic	PIEZO1	.	nonsynonymous SNV	PIEZO1:NM_001142864:exon31:c.T4252C:p.Y1418H	Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema, Autosomal dominant;Lymphedema, hereditary, III, Autosomal recessive	417	1098	6	0	1	7	0.0027248	.	.	.	610044	PIEZO1-related_disorder|not_provided|Inborn_genetic_diseases|not_specified	.|MedGen:C3661900|MeSH:D030342,MedGen:C0950123|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.183	0.89066738677	0.0015	0.000399361	0.0005	0.0005	0	0	0	0.0009	0	0.0001	0.0001294	20	154602	rs147153006	0.0005	0.0005	0.0005	0.0005	0.0012	0.0005	0.0005	0.0006	0.0005	9.506e-05	0.0003	0.0009	0	6.246e-05	0.0012	0.0006	0.0004	3.789e-05	0.0004	0.0004	0.0004	0.0003	0.0007	0.0003	0.0003	0.0005	0.0005	9.615e-05	0	0.0002	0.0006	0	9.411e-05	0	0.0007	0	0	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	0.99994	0.51968	D	3.14	0.88230	M	-2.39	0.88377	D	-4.76	0.80340	D	0.624	0.63883	0.842	0.94932	D	0.828	0.94217	D	10	0.6056006	0.67156	D	0.890667	0.99171	D	0.745	0.91198	.	.	0.316310170894	0.31242	0.782061536528509	0.78157	.	.	0.882346987724	0.94275	D	0.601872	0.87252	D	-0.0449742	0.45207	T	0.0795892	0.75552	D	0.290976107120514	0.24630	T	0.892211	0.62852	D	0.8456782	0.87018	0.7017626	0.82425	0.8456782	0.87020	0.7017626	0.82426	-8.981	0.67575	D	0.8412013313219475	0.90967	0.935	0.85467	P	.	.	4.751374	0.76731	26.6	0.99808331519073767	0.89264	0.93282	0.57801	D	AEFDBI	0.655490	0.62781	D	0.694036259007718	0.79241	7.036523	0.62413344769972	0.76696	6.538923	0.999999747744918	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.723109	0.80598	0	0.711	0.71501	0	.	.	5.21	5.21	0.72005	4.794000	0.62175	10.977000	0.84575	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.776000	0.36750	1.0:0.0:0.0:0.0	14.344	0.66206	873	0.30802	Piezo domain	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.002632	0.000000	0.000000	0.008065	0.000000	0.000000	0.004464	0.000000	0.05	1937.43	136	chr16	88723954	.	A	G	1937.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.56;DP=445;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.25;ReadPosRankSum=0.474;SOR=0.744	GT:AD:DP:GQ:PL	0/1:63,73:136:99:1949,0,1447	9	0	1	0
chr17	1827989	1827989	A	T	exonic	SMYD4	.	nonsynonymous SNV	SMYD4:NM_052928:exon2:c.T6A:p.D2E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.037	0.00668984705299	7.7e-05	.	3.306e-05	0	0	0	0	4.511e-05	0	6.071e-05	2.59e-05	4	154602	rs377632089	6.177e-06	6.156e-06	5.455e-06	6.908e-06	0.0005	2.91e-06	2.11e-06	0.0001	7.56e-05	0	0	0	0	0	0.0005	2.708e-06	1.661e-05	2.323e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.181	0.21884	T	0.212	0.26549	T	0.325	0.33132	B	0.033	0.22329	B	0.000044	0.53742	D	0.162237	0.980181	0.25130	N	2.31	0.66127	M	2.79	0.35960	T	-0.98	0.25986	N	0.156	0.16168	-1.0315	0.19970	T	0.023	0.09878	T	10	0.1739003	0.32241	T	0.00669	0.17671	T	0.037	0.09474	0.163	0.06730	0.565612946506	0.56225	0.1309109239088927	0.13016	0.0750347424609	0.08415	0.486809045076	0.36996	T	0.006977	0.12223	T	-0.21056	0.19300	T	-0.439602	0.28854	T	0.114427894353867	0.13877	T	0.536546	0.22576	T	0.053121284	0.10005	0.054797854	0.09493	0.053121284	0.10004	0.054797854	0.09493	-2.709	0.07379	T	.	.	0.305	0.53347	B	.;.;.	.;.;.	1.764209	0.22436	15.62	0.96743684949780251	0.30935	0.57434	0.30376	D	AEFDBI	0.114237	0.22508	N	-0.29733650282649	0.29251	1.620477	-0.258068134609541	0.29494	1.652882	0.999693539149304	0.41870	0.732398	0.92422	0	0.709663	0.81188	0	0.743671	0.96076	0	0.635551	0.53088	0	.	.	4.63	2.37	0.28337	0.976000	0.29059	2.016000	0.30187	0.751000	0.87719	1.000000	0.71638	1.000000	0.68203	0.909000	0.44452	0.7873:0.0:0.2127:0.0	6.448	0.21087	787	0.46738	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.000000	0.05	666.43	74	chr17	1827989	.	A	T	666.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.96;DP=426;ExcessHet=0;FS=2.029;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.01;ReadPosRankSum=-0.095;SOR=1.022	GT:AD:DP:GQ:PL	0/1:47,27:74:99:678,0,1170	9	0	1	0
chr17	3398263	3398263	G	A	exonic	OR1E1	.	stopgain	OR1E1:NM_003553:exon1:c.C148T:p.R50X	.	423	1096	3	0	0	3	0.00136674	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0.000399361	0.0002	0	0	0	0	0.0001	0	0.0006	0.0001488	23	154602	rs189246588	8.551e-05	8.551e-05	7.895e-05	9.213e-05	0.0009	7.312e-05	6.815e-05	0.0003	0.0003	0	0	0.0005	0	1.872e-05	0.0009	5.216e-05	0.0001	0.0005	5.911e-05	5.906e-05	3.856e-05	8.058e-05	0.0008	3.076e-05	2.209e-05	0.0003	0.0002	0	0	0	0.0003	0	0	0	5.88e-05	0	0.0008	.	.	.	.	.	.	.	.	.	.	.	.	0.223226	0.03469	N	1.541270	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.034	0.00942	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.0561561	0.43507	T	0.0379366	0.72793	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive	High	6.574937	0.95426	35	0.99591805034403791	0.73631	0.03292	0.08343	N	AEFGI	0.067267	0.13216	N	0.0241242410133305	0.42952	2.59794	-0.339045356348449	0.26850	1.485794	9.20030318048962E-6	0.01202	0.525926	0.21836	0	0.573888	0.26702	0	0.615948	0.41167	0	0.564101	0.26826	0	.	.	4.39	-1.12	0.09306	-1.283000	0.02904	-6.031000	0.01518	0.641000	0.52212	0.000000	0.06391	0.000000	0.08366	0.066000	0.16387	0.113:0.1956:0.5733:0.1181	3.395	0.06879	840	0.37365	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.000000	0.05	2646.43	202	chr17	3398263	.	G	A	2646.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=3.64;DP=570;ExcessHet=0;FS=1.75;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=55.22;MQRankSum=-0.714;QD=13.1;ReadPosRankSum=2.48;SOR=0.57	GT:AD:DP:GQ:PL	0/1:111,91:202:99:2658,0,2967	9	0	1	0
chr17	3825813	3825815	TCA	-	exonic	NCBP3	.	nonframeshift deletion	NCBP3:NM_001114118:exon6:c.639_641del:p.D213del	.	432	1088	2	0	0	2	0.000918274	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.346e-05	0	0	0	0	0	0	0.0001	6.5e-06	1	154602	rs757789300	3.645e-05	3.557e-05	3.102e-05	4.202e-05	0.0005	2.817e-05	2.547e-05	0.0001	7.631e-05	0	0	0	0	0	0.0005	3.8e-05	0.0001	1.262e-05	1.971e-05	1.97e-05	1.285e-05	2.69e-05	4.409e-05	5.24e-06	2.45e-06	1.171e-05	6.25e-06	0	0	0	0	0	0	0	4.409e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	2983.39	193	chr17	3825812	.	TTCA	T	2983.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.193;DP=524;ExcessHet=0;FS=3.334;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=15.46;ReadPosRankSum=0.349;SOR=0.965	GT:AD:DP:GQ:PL	0/1:113,80:193:99:2995,0,4495	9	0	1	0
chr17	4933907	4933923	ACCACCCCAGAGCCCAC	0	exonic	GP1BA	.	.	.	Bernard-Soulier syndrome, type A1 (recessive), Autosomal recessive;Bernard-Soulier syndrome, type A2 (dominant), Autosomal dominant;von Willebrand disease, platelet-type, Autosomal dominant	625	661	31	11	194	247	0.0385455	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6	2999.71	129	chr17	4933907	.	ACCACCCCAGAGCCCAC	*	2999.71	.	AC=12;AF=0.6;AN=20;BaseQRankSum=-2.686;DP=1317;ExcessHet=0.0952;FS=1.935;InbreedingCoeff=0.3407;MLEAC=12;MLEAF=0.6;MQ=59.44;MQRankSum=0.207;QD=3.86;ReadPosRankSum=-0.518;SOR=0.909	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,129:129:99:.:.:4457,411,0:.	3	5	2	0
chr17	4933915	4933915	A	0	exonic	GP1BA	.	.	.	Bernard-Soulier syndrome, type A1 (recessive), Autosomal recessive;Bernard-Soulier syndrome, type A2 (dominant), Autosomal dominant;von Willebrand disease, platelet-type, Autosomal dominant	1045	137	36	84	220	424	0.426778	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7222	1204.92	129	chr17	4933915	.	A	*	1204.92	.	AC=13;AF=0.722;AN=18;BaseQRankSum=-3.635;DP=1346;ExcessHet=1.8123;FS=4.609;InbreedingCoeff=-0.1556;MLEAC=14;MLEAF=0.778;MQ=59.67;MQRankSum=1.23;QD=1.34;ReadPosRankSum=-3.271;SOR=0.923	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,129:129:99:.:.:4457,411,0:.	1	5	3	1
chr17	6800775	6800775	C	G	exonic	TEKT1	.	nonsynonymous SNV	TEKT1:NM_053285:exon7:c.G1021C:p.V341L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1429	707.24	133	chr17	6800775	.	C	G	707.24	.	AC=2;AF=0.143;AN=14;BaseQRankSum=-2.798;DP=1085;ExcessHet=0.2348;FS=431.21;InbreedingCoeff=-0.2121;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=2.35;ReadPosRankSum=2.89;SOR=9.346	GT:AD:DP:GQ:PL	0/1:87,46:133:99:190,0,1450	5	0	2	3
chr17	13017913	13017913	G	A	exonic	ELAC2	.	nonsynonymous SNV	ELAC2:NM_001165962:exon1:c.C35T:p.A12V,ELAC2:NM_018127:exon1:c.C35T:p.A12V,ELAC2:NM_173717:exon1:c.C35T:p.A12V	Combined oxidative phosphorylation deficiency 17, Autosomal recessive	.	.	.	.	.	.	.	.	.	YES	1385727	Combined_oxidative_phosphorylation_defect_type_17	MONDO:MONDO:0014190,MedGen:C3809526,OMIM:615440,Orphanet:369913	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.119	0.138453841427	.	.	.	.	.	.	.	.	.	.	7.68e-05	2	26028	rs111252262	1.945e-05	2.121e-05	2.133e-05	1.752e-05	0.0002	1.332e-05	1.142e-05	6.24e-05	4.051e-05	0.0002	0	0	0	0	0	1.761e-05	5.194e-05	0	2.627e-05	2.626e-05	5.137e-05	0	4.409e-05	8.14e-06	5.14e-06	1.17e-05	6.25e-06	2.411e-05	0	0	0	0	0	0	4.409e-05	0	0	0.019	0.50132	D	0.234	0.47828	T	0.682	0.44504	P	0.205	0.43610	B	0.017554	0.27695	N	0.371554	1	0.08975	N	1.7	0.43825	L	-0.13	0.65378	T	-0.28	0.11547	N	0.288	0.39356	-0.8544	0.51662	T	0.194	0.54696	T	10	0.17325842	0.32144	T	0.138454	0.82094	D	0.119	0.33137	0.246	0.18139	0.764632480499	0.76248	0.45206996963459356	0.45124	0.207775918968	0.23247	0.724977612495	0.70774	T	0.01293	0.11273	T	-0.0458153	0.45080	T	-0.303587	0.44343	T	0.137935741477062	0.16095	T	0.872813	0.58002	D	0.063081905	0.13243	0.096784614	0.23011	0.063081905	0.13243	0.096784614	0.23010	-4.312	0.29517	T	.	.	0.186	0.41678	B	.;.;.;.	.;.;.;.	1.921212	0.24402	16.38	0.99638803358881955	0.76510	0.14908	0.18647	N	AEFGBHCIJ	0.096126	0.19410	N	-0.378934895786261	0.26221	1.429394	-0.458610731671632	0.23304	1.270202	0.999999999999818	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	4.88	2.69	0.30923	1.021000	0.29642	4.865000	0.45508	0.676000	0.76740	0.021000	0.19753	1.000000	0.68203	0.018000	0.11154	0.0:0.3218:0.6782:0.0	12.942	0.57745	969	0.06854	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001601	0.000000	0.004310	0.000000	0.000000	0.000000	0.000000	0.004000	0.05	700.43	41	chr17	13017913	.	G	A	700.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.619;DP=349;ExcessHet=0;FS=2.82;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=17.08;ReadPosRankSum=-0.053;SOR=0.448	GT:AD:DP:GQ:PL	0/1:16,25:41:99:712,0,433	9	0	1	0
chr17	14069646	14069646	C	T	exonic	COX10	.	nonsynonymous SNV	COX10:NM_001303:exon1:c.C41T:p.T14I	Leigh syndrome due to mitochondrial COX4 deficiency, Autosomal recessive, Mitochondrial;Mitochondrial complex IV deficiency, Autosomal recessive, Mitochondrial	1	1517	4	0	0	4	0.00131666	0.6031	0.574	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.136	0.0107264595998	.	0.000199681	2.524e-05	0	8.792e-05	0	0	1.53e-05	0	6.136e-05	2.59e-05	4	154602	rs576862251	1.026e-05	1.026e-05	8.168e-06	1.238e-05	0.0005	6.16e-06	4.89e-06	0.0001	7.541e-05	0	2.236e-05	0	0	0	0.0005	5.396e-06	6.623e-05	1.16e-05	1.969e-05	1.968e-05	1.285e-05	2.685e-05	0.0002	5.24e-06	2.45e-06	2.257e-05	9.06e-06	0	0	0.0001	0	0.0002	0	0	0	0	0	0.04	0.42199	D	0.217	0.26145	T	0.003	0.11197	B	0.003	0.08700	B	0.187499	0.16936	N	0.617866	1	0.81001	D	1.7	0.43825	L	1.11	0.38883	T	-0.65	0.18877	N	0.456	0.51405	-0.9933	0.31749	T	0.101	0.37518	T	10	0.13806897	0.26260	T	0.010726	0.27599	T	0.136	0.36778	0.396	0.42262	0.471127988307	0.46741	0.24658202236068966	0.24572	0.271397861311	0.29662	0.524778306484	0.42300	T	0.309629	0.68164	T	-0.216784	0.18435	T	-0.373325	0.36501	T	0.529577195644379	0.33719	D	0.721828	0.33531	T	0.11836129	0.27888	0.23438649	0.48654	0.11836129	0.27888	0.23438649	0.48653	-4.239	0.27313	T	.	.	0.359	0.57167	A	.;.	.;.	4.976475	0.82395	27.8	0.88952674449121938	0.18389	0.49752	0.28505	N	AEFDGBHCI	0.412554	0.48258	N	-0.408937708228879	0.25155	1.363454	-0.328530380839874	0.27181	1.506485	0.99999999998887	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.372554	0.06265	0	.	.	4.32	3.34	0.37357	3.533000	0.53317	7.229000	0.57868	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.454000	0.27984	0.0:0.8272:0.1727:0.0	12.2	0.53629	926	0.17793	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.1	754.14	56	chr17	14069646	.	C	T	754.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=1.42;DP=389;ExcessHet=0.2348;FS=0;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=6.67;ReadPosRankSum=0.364;SOR=0.704	GT:AD:DP:GQ:PL	0/1:37,19:56:99:428,0,896	8	0	2	0
chr17	17793784	17793786	AGC	0	exonic	RAI1	.	.	.	Smith-Magenis syndrome, Autosomal dominant, Isolated cases	32	478	558	335	119	1347	0.562271	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	60701.0	192	chr17	17793784	.	AGC	*	60701.0	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.166;DP=2418;ExcessHet=2.8389;FS=0;InbreedingCoeff=-0.3333;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=26.8;ReadPosRankSum=0.982;SOR=0.632	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:72,95:192:99:.:.:3677,0,3537:.	9	0	1	0
chr17	17793787	17793788	AG	0	exonic	RAI1	.	.	.	Smith-Magenis syndrome, Autosomal dominant, Isolated cases	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	57180.2	192	chr17	17793787	.	AG	*	57180.2	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.842;DP=2453;ExcessHet=2.8389;FS=0.594;InbreedingCoeff=-0.3333;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=28.04;ReadPosRankSum=1.25;SOR=0.633	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:72,95:192:99:.:.:3677,0,3537:.	9	0	1	0
chr17	35129437	35129437	G	C	exonic	FNDC8	.	nonsynonymous SNV	FNDC8:NM_017559:exon3:c.G601C:p.A201P	.	427	1093	1	0	1	2	0.000457247	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.060	0.00499171307736	.	.	2.475e-05	0	0	0	0	3.001e-05	0	6.08e-05	1.94e-05	3	154602	rs889890231	9.578e-06	9.577e-06	5.445e-06	1.375e-05	3.478e-05	5.56e-06	4.35e-06	9.24e-06	4.56e-06	0	0	0	0	0	0	9.894e-06	0	3.478e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.067	0.35918	T	0.0	0.92824	D	0.137	0.27402	B	0.066	0.27432	B	0.497884	0.11983	N	0.739630	1	0.08975	N	0.975	0.24501	L	0.96	0.42888	T	-3.08	0.63323	D	0.392	0.43320	-1.0381	0.17893	T	0.050	0.21261	T	10	0.10966945	0.20467	T	0.004992	0.12598	T	0.060	0.17295	0.615	0.74884	0.0138822411134	0.00435	0.34983940081898546	0.34897	0.152324165258	0.17189	0.383623242378	0.22769	T	0.053402	0.29434	T	-0.276282	0.11067	T	-0.504186	0.21915	T	0.14050920794274	0.16319	T	0.539746	0.18256	T	0.28245053	0.51281	0.33366433	0.59201	0.28245053	0.51281	0.33366433	0.59200	-2.217	0.04124	T	.	.	0.376	0.58191	A	.	.	2.010724	0.25550	16.80	0.97358282640090299	0.33558	0.07919	0.13906	N	AEFDBHCI	0.071574	0.14253	N	-0.819087064099475	0.12822	0.6275609	-0.822016559868045	0.13962	0.7271137	0.999577279624649	0.40495	0.660377	0.49826	0	0.694456	0.67091	0	0.489635	0.07774	0	0.592323	0.36904	0	.	.	5.24	-2.38	0.06243	0.373000	0.20215	0.820000	0.21843	0.676000	0.76740	0.020000	0.19661	0.056000	0.21938	0.980000	0.58198	0.1734:0.1374:0.2686:0.4206	1.296	0.01943	925	0.17918	Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1	2047.14	75	chr17	35129437	.	G	C	2047.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-0.065;DP=455;ExcessHet=0.2348;FS=6.877;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=11.9;ReadPosRankSum=-0.599;SOR=0.352	GT:AD:DP:GQ:PL	0/1:38,37:75:99:861,0,850	8	0	2	0
chr17	35557684	35557684	G	A	exonic	SLFN14	.	nonsynonymous SNV	SLFN14:NM_001129820:exon3:c.C379T:p.R127C	Bleeding disorder, platelet-type, 20, Autosomal dominant	429	1088	3	2	0	7	0.0032066	.	.	.	2811247	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.112	0.0119967018024	.	0.000199681	0.0010	0	0	0	0	0.0002	0	0.0023	0.0001423	22	154602	rs538967367	0.0002	0.0002	0.0001	0.0003	0.0018	0.0002	0.0002	0.0016	0.0015	0.0001	5.602e-05	0.0003	2.798e-05	0	0.0016	7.971e-05	0.0003	0.0018	0.0002	0.0002	0.0001	0.0003	0.0021	0.0002	0.0001	0.0011	0.0009	0.0001	0	6.543e-05	0.0006	0	0	0	0.0002	0.0009	0.0021	0.139	0.25768	T	0.144	0.33109	T	0.999	0.77913	D	0.65	0.52463	P	.	.	.	.	0.931804	0.27037	N	1.185	0.30054	L	4.55	0.01948	T	-0.11	0.08653	N	0.17	0.18103	-0.9118	0.46632	T	0.008	0.02968	T	9	0.012767583	0.00273	T	0.011997	0.30173	T	0.112	0.31546	.	.	0.143124449307	0.13826	0.23289321474416186	0.23204	.	.	0.271049559116	0.06279	T	0.002943	0.02340	T	-0.51732	0.00456	T	-0.521419	0.20151	T	0.0325920100531602	0.02404	T	0.687731	0.29668	T	0.07225878	0.16062	0.05793418	0.10618	0.07225878	0.16061	0.05793418	0.10618	-4.288	0.28008	T	0.3942665817568963	0.48701	0.104	0.18869	B	.	.	1.237199	0.16323	12.47	0.9982183757158003	0.90502	0.08468	0.14393	N	AEFDGBI	0.144425	0.26738	N	-0.154862576057607	0.35027	2.00686	-0.247945800064437	0.29842	1.675253	0.973010093953133	0.29419	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.530356	0.10902	0	.	.	4.19	2.16	0.26663	0.230000	0.17632	1.434000	0.26471	0.676000	0.76740	0.001000	0.13787	0.901000	0.27973	0.966000	0.53164	0.1133:0.0:0.6666:0.2202	4.569	0.11595	0	0.99858	.	.	.	.	.	.	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	0	0	1	0	.	.	.	.	.	.	.	.	0.05	2140.43	116	chr17	35557684	.	G	A	2140.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=3.18;DP=429;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=18.45;ReadPosRankSum=1.45;SOR=0.671	GT:AD:DP:GQ:PL	0/1:48,68:116:99:2152,0,1167	9	0	1	0
chr17	37257713	37257713	C	T	exonic	ACACA	.	nonsynonymous SNV	ACACA:NM_198837:exon12:c.G1531A:p.E511K,ACACA:NM_198838:exon13:c.G1471A:p.E491K,ACACA:NM_198834:exon14:c.G1816A:p.E606K,ACACA:NM_198836:exon14:c.G1705A:p.E569K,ACACA:NM_198839:exon18:c.G1705A:p.E569K	Acetyl-CoA carboxylase deficiency, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.692	0.0171503242482	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.439	0.17696	T	0.746	0.44790	P	0.557	0.55725	P	0.000000	0.84330	D	0.000000	1	0.81001	D	1.885	0.50048	L	.	.	.	.	.	.	0.862	0.85872	0.107	0.84300	D	0.637	0.87289	D	10	0.7375028	0.74723	D	0.01715	0.38730	T	.	.	0.467	0.53891	0.877869702975	0.87668	0.9836152231955558	0.98353	.	.	0.872255206108	0.92889	D	0.780159	0.94189	D	0.432308	0.91648	D	0.383204	0.91545	D	0.977236747741699	0.71748	D	.	.	.	0.81459284	0.84857	0.6431959	0.79147	0.81459284	0.84859	0.6431959	0.79148	-9.549	0.74745	D	.	.	0.857	0.80134	P	.;.;.;.	.;.;.;.	5.294357	0.88888	29.8	0.9986442591158583	0.94276	0.98597	0.84519	D	AEFBI	0.820385	0.74119	D	0.627107990343815	0.74894	6.211086	0.69699622420893	0.82148	7.696462	0.999999997971713	0.74766	0.732398	0.92422	0	0.653731	0.59785	0	0.743671	0.96076	0	0.733575	0.97253	0	.	.	5.93	5.93	0.95888	7.905000	0.86479	7.642000	0.63248	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:1.0:0.0:0.0	19.342	0.94335	689	0.59000	.;.;Biotin carboxylase, C-terminal|Biotin carboxylation domain|Biotin carboxylase, C-terminal;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	5690.04	86	chr17	37257713	.	C	T	5690.04	.	AC=10;AF=0.5;AN=20;BaseQRankSum=0.669;DP=834;ExcessHet=22.563;FS=449.684;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=60;MQRankSum=0;QD=6.93;ReadPosRankSum=0.076;SOR=12.223	GT:AD:DP:GQ:PL	0/1:46,40:86:99:360,0,751	0	0	10	0
chr17	38673379	38673379	C	A	exonic	EPOP	.	nonsynonymous SNV	EPOP:NM_001130677:exon1:c.G1117T:p.G373W	.	434	1087	1	0	0	1	0.00045977	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.013	0.0439047214354	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.453e-06	1.368e-06	1.433e-06	1.474e-06	0.0002	2.4e-07	9e-08	.	.	0	0	0	0	0	0.0002	0	1.755e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.166	0.30828	T	0.061	0.23190	B	0.045	0.24526	B	.	.	.	.	0.953309	0.26409	N	.	.	.	.	.	.	.	.	.	0.228	0.25622	-1.0285	0.20940	T	0.043	0.18576	T	8	0.0779323	0.12359	T	0.043905	0.61221	D	.	.	0.358	0.36060	0.298403945805	0.29456	0.06849474303153294	0.06787	.	.	.	.	.	0.008645	0.07927	T	-0.163652	0.26199	T	-0.472851	0.25209	T	0.57660037279129	0.35487	D	.	.	.	0.07489867	0.16839	0.11364822	0.27430	0.07489867	0.16838	0.11364822	0.27429	-5.069	0.37579	T	.	.	0.271	0.50481	B	.	.	2.931488	0.38943	20.9	0.93378066088259004	0.23125	0.71730	0.35140	D	AEFDBI	0.333682	0.43269	N	-0.456720031843281	0.23513	1.263197	-0.313873458849024	0.27649	1.535783	0.99820445499228	0.36574	0.608746	0.35421	0	0.627608	0.54475	0	0.619478	0.44681	0	0.620976	0.48614	0	.	.	4.19	2.12	0.26372	2.420000	0.44334	4.161000	0.42211	0.577000	0.29297	0.997000	0.40164	1.000000	0.68203	0.984000	0.60418	0.2177:0.5599:0.0:0.2224	3.276	0.06494	538	0.73119	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1	1443.14	65	chr17	38673379	.	C	A	1443.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=0.088;DP=437;ExcessHet=0.2348;FS=3.171;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=9.75;ReadPosRankSum=1.43;SOR=0.474	GT:AD:DP:GQ:PL	0/1:40,25:65:99:616,0,1098	8	0	2	0
chr17	41226817	41226817	A	G	exonic	KRTAP9-2	.	nonsynonymous SNV	KRTAP9-2:NM_031961:exon1:c.A163G:p.T55A	.	425	1074	23	0	0	23	0.0105942	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.019	0.00107116852984	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs71371480	4.462e-06	6.164e-05	2.949e-06	6.002e-06	5.634e-05	1.61e-06	1.05e-06	9.33e-06	3.49e-06	0	0	0	5.634e-05	0	0	3.848e-06	0	0	8.37e-05	0.0040	8.167e-05	8.583e-05	0.0001	4.754e-05	3.715e-05	4.988e-05	3.582e-05	0.0001	0	6.923e-05	0	0	0	0	0.0001	0	0	0.239	0.17761	T	0.194	0.28120	T	0.057	0.22878	B	0.014	0.16862	B	.	.	.	.	1	0.08975	N	1.615	0.41426	L	4.93	0.01395	T	-2.18	0.49187	N	0.052	0.02366	-0.9083	0.47061	T	0.003	0.00800	T	9	0.069259465	0.09913	T	0.001071	0.01239	T	0.019	0.03383	0.272	0.22210	0.0806252709748	0.07271	0.06562531389351679	0.06501	1.12458278325	0.78412	0.193279489875	0.00288	T	0.016892	0.13877	T	-0.329445	0.06154	T	-0.711002	0.05244	T	0.0578466179088175	0.06824	T	0.00989901	0.00051	T	0.030785557	0.02802	0.043039963	0.05265	0.030785557	0.02801	0.043039963	0.05265	-2.973	0.09893	T	.	.	0.075	0.05491	B	.	.	-0.162279	0.03290	0.566	0.19617231370711175	0.00670	0.02148	0.06321	N	AEFBI	0.028638	0.02560	N	-1.71002807248366	0.00807	0.03487423	-1.80660392748605	0.00738	0.03290239	1.56655996843476E-5	0.02871	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	2.18	-4.25	0.03508	-0.848000	0.04435	-20.000000	0.00162	-0.756000	0.03544	0.000000	0.06391	0.000000	0.08366	0.172000	0.21044	0.272:0.1967:0.143:0.3883	0.293	0.00242	115	0.95340	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1111	116.37	319	chr17	41226817	.	A	G	116.37	.	AC=2;AF=0.111;AN=18;BaseQRankSum=6.24;DP=2998;ExcessHet=0.2348;FS=33.069;InbreedingCoeff=-0.1428;MLEAC=2;MLEAF=0.111;MQ=56.34;MQRankSum=-9.958;QD=0.18;ReadPosRankSum=-4.657;SOR=4.215	GT:AD:DP:GQ:PL	0/1:293,26:319:28:28,0,12050	7	0	2	1
chr17	41382308	41382308	A	G	exonic	KRT34	.	nonsynonymous SNV	KRT34:NM_021013:exon1:c.T65C:p.L22P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1	173.14	149	chr17	41382308	.	A	G	173.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-5.02;DP=575;ExcessHet=0.2348;FS=186.238;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=0.59;ReadPosRankSum=2.38;SOR=7.613	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:124,25:149:99:0|1:41382308_A_G:154,0,4815:41382308	8	0	2	0
chr17	41382311	41382311	C	G	exonic	KRT34	.	nonsynonymous SNV	KRT34:NM_021013:exon1:c.G62C:p.R21T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1	173.14	149	chr17	41382311	.	C	G	173.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-5.123;DP=571;ExcessHet=0.2348;FS=186.238;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=0.59;ReadPosRankSum=2.24;SOR=7.613	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:124,25:149:99:0|1:41382308_A_G:154,0,4815:41382308	8	0	2	0
chr17	41382313	41382313	C	G	exonic	KRT34	.	nonsynonymous SNV	KRT34:NM_021013:exon1:c.G60C:p.E20D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1	172.14	147	chr17	41382313	.	C	G	172.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-5.711;DP=570;ExcessHet=0.2348;FS=182.992;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=0.59;ReadPosRankSum=2.09;SOR=7.568	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:123,24:147:99:0|1:41382308_A_G:150,0,4777:41382308	8	0	2	0
chr17	43209576	43209576	C	T	exonic	NBR1	.	nonsynonymous SNV	NBR1:NM_001291571:exon21:c.C2747T:p.S916L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.099	0.00247799293091	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.892e-06	2.736e-06	0	5.862e-06	5.049e-05	6.8e-07	4.6e-07	1.678e-05	9.94e-06	0	0	0	0	0	0	0	0	5.049e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.02946	B	0.001	0.04355	B	.	.	.	.	1	0.08975	N	.	.	.	0.89	0.45636	T	.	.	.	0.231	0.25989	-1.0011	0.29602	T	0.077	0.30828	T	7	0.083803385	0.13980	T	0.002478	0.04925	T	.	.	0.34	0.33141	0.177238962908	0.17366	.	.	.	.	.	.	.	.	.	.	-0.208605	0.19577	T	-0.537423	0.18551	T	0.0225476848085301	0.00970	T	0.474053	0.14146	T	.	.	.	.	.	.	.	.	-2.953	0.09684	T	.	.	0.104	0.18705	B	.	.	0.197311	0.05827	2.267	0.68196843098406135	0.08585	0.03259	0.08291	N	AEFBI	0.040444	0.06017	N	-0.901074322236357	0.10816	0.5188141	-0.995857017767948	0.09878	0.4940473	4.44860287574638E-4	0.07004	0.475973	0.10046	0	0.601575	0.49859	0	0.463624	0.06942	0	0.221012	0.04332	2	.	.	3.12	0.668	0.17081	-0.683000	0.05280	-0.427000	0.09246	0.530000	0.24713	0.000000	0.06391	0.000000	0.08366	0.146000	0.20164	0.0:0.7932:0.0:0.2068	6.907	0.23497	505	0.75648	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.4167	883.7	49	chr17	43209576	.	C	T	883.7	.	AC=5;AF=0.417;AN=12;BaseQRankSum=-1.175;DP=394;ExcessHet=3.8694;FS=226.211;InbreedingCoeff=-0.444;MLEAC=6;MLEAF=0.5;MQ=60;MQRankSum=0;QD=3.48;ReadPosRankSum=0.783;SOR=8.379	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:44,5:49:2:0|1:43209572_C_T:2,0,1447:43209572	1	0	5	4
chr17	44399285	44399285	G	T	exonic	GPATCH8	.	nonsynonymous SNV	GPATCH8:NM_001304943:exon5:c.C2558A:p.S853Y,GPATCH8:NM_001304939:exon7:c.C2717A:p.S906Y,GPATCH8:NM_001304942:exon7:c.C2558A:p.S853Y,GPATCH8:NM_001002909:exon8:c.C2792A:p.S931Y,GPATCH8:NM_001304941:exon9:c.C2558A:p.S853Y,GPATCH8:NM_001304940:exon10:c.C2558A:p.S853Y	.	422	1096	4	0	0	4	0.00182149	.	.	.	2384833	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.175	0.0132942397881	.	.	6.59e-05	0	0.0002	0.0001	0	7.492e-05	0	0	5.82e-05	9	154602	rs769916673	0.0001	0.0001	0.0002	0.0001	0.0004	0.0001	0.0001	0.0002	0.0002	0	0.0004	0	5.04e-05	0	0.0003	0.0002	0.0002	5.797e-05	0.0001	0.0001	0.0001	0.0001	0.0007	9.148e-05	7.704e-05	0.0004	0.0003	0.0002	0	0.0007	0	0	0	0	5.88e-05	0	0	.	.	.	0.361	0.16914	T	1.0	0.90584	D	0.997	0.86255	D	0.000000	0.84330	D	0.000000	0.999998	0.58761	D	0.895	0.22405	L	2.24	0.17923	T	.	.	.	0.545	0.57177	-1.1208	0.02282	T	0.074	0.29960	T	10	0.30187577	0.47727	T	0.013294	0.32578	T	.	.	.	.	0.196089822672	0.19227	0.48287026531522875	0.48207	0.182516927808	0.20511	0.770769417286	0.77541	T	0.031656	0.22138	T	-0.324455	0.06540	T	-0.375873	0.36204	T	0.118316092778163	0.14264	T	0.845715	0.52486	T	0.1874165	0.40195	0.24053971	0.49430	0.1874165	0.40195	0.24053971	0.49429	-7.83	0.59906	D	.	.	0.401	0.59606	A	.	.	3.425556	0.47581	22.5	0.96334878423215153	0.29460	0.98432	0.82716	D	AEFDGBCI	0.858202	0.77568	D	0.593819984953509	0.72786	5.86115	0.628903181532153	0.77049	6.604984	0.999999999030967	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.697927	0.64325	0	0.714379	0.83352	0	.	.	5.2	5.2	0.71720	8.913000	0.92296	9.975000	0.82886	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.909000	0.44452	0.0:0.0:1.0:0.0	18.529	0.90936	511	0.75131	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.005051	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.05	3283.43	191	chr17	44399285	.	G	T	3283.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.928;DP=610;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=17.19;ReadPosRankSum=2.23;SOR=0.729	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:105,86:191:99:0|1:44399285_G_T:3295,0,4139:44399285	9	0	1	0
chr17	44399286	44399286	A	C	exonic	GPATCH8	.	nonsynonymous SNV	GPATCH8:NM_001304943:exon5:c.T2557G:p.S853A,GPATCH8:NM_001304939:exon7:c.T2716G:p.S906A,GPATCH8:NM_001304942:exon7:c.T2557G:p.S853A,GPATCH8:NM_001002909:exon8:c.T2791G:p.S931A,GPATCH8:NM_001304941:exon9:c.T2557G:p.S853A,GPATCH8:NM_001304940:exon10:c.T2557G:p.S853A	.	422	1096	4	0	0	4	0.00182149	.	.	.	2384832	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.193	0.0113018479743	.	.	5.766e-05	0	0.0002	0.0001	0	5.993e-05	0	0	4.53e-05	7	154602	rs775499902	0.0001	0.0001	0.0001	0.0001	0.0004	0.0001	0.0001	0.0002	0.0002	0	0.0004	0	5.039e-05	0	0.0003	0.0001	9.936e-05	3.478e-05	0.0001	0.0001	0.0001	0.0001	0.0007	9.152e-05	7.707e-05	0.0004	0.0003	0.0002	0	0.0007	0	0	0	0	5.881e-05	0	0	.	.	.	0.315	0.19421	T	0.994	0.66517	D	0.978	0.74104	D	0.000000	0.84330	D	0.000000	0.999684	0.48270	D	0.895	0.22405	L	2.31	0.16794	T	.	.	.	0.402	0.44283	-1.1044	0.03598	T	0.067	0.27502	T	10	0.17827883	0.32905	T	0.011302	0.28784	T	.	.	.	.	0.317526407968	0.31361	0.3482024930364699	0.34734	0.116023652357	0.13085	0.708764433861	0.68415	T	0.029253	0.21004	T	-0.337626	0.05555	T	-0.394792	0.33991	T	0.167987549545225	0.18443	T	0.639136	0.25234	T	0.15062582	0.34281	0.1378453	0.32937	0.15062582	0.34281	0.1378453	0.32936	-9.605	0.71510	D	.	.	0.138	0.30264	B	.	.	3.717720	0.53105	23.3	0.98555614829814797	0.42909	0.98343	0.81823	D	AEFDGBCI	0.768567	0.70409	D	0.505346577544509	0.67405	5.07732	0.539482545541705	0.70668	5.539291	0.999999291197819	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.697927	0.64325	0	0.714379	0.83352	0	.	.	5.2	5.2	0.71720	8.324000	0.89919	9.384000	0.80535	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.910000	0.44547	1.0:0.0:0.0:0.0	14.896	0.70286	511	0.75131	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.005051	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.05	3283.43	191	chr17	44399286	.	A	C	3283.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.135;DP=609;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=17.19;ReadPosRankSum=2.14;SOR=0.729	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:105,86:191:99:0|1:44399285_G_T:3295,0,4139:44399285	9	0	1	0
chr17	46171732	46171732	G	T	exonic	KANSL1	.	nonsynonymous SNV	KANSL1:NM_001193466:exon2:c.C412A:p.L138I,KANSL1:NM_015443:exon2:c.C412A:p.L138I,KANSL1:NM_001193465:exon3:c.C412A:p.L138I,KANSL1:NM_001379198:exon3:c.C412A:p.L138I	Koolen-De Vries syndrome, Autosomal dominant	0	1519	3	0	0	3	0.000986518	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.039	0.00935574776519	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.208e-06	4.104e-06	2.783e-06	5.656e-06	0.0005	1.51e-06	9.9e-07	0.0001	7.857e-05	3.176e-05	0	0	0	0	0.0005	9.112e-07	1.704e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.066	0.36113	T	0.087	0.40747	T	.	.	.	.	.	.	0.000383	0.44960	D	0.147353	1	0.81001	D	.	.	.	2.68	0.12371	T	-0.98	0.25986	N	0.167	0.18376	-1.0399	0.17343	T	0.021	0.08639	T	10	0.13124296	0.24978	T	0.009356	0.24553	T	0.039	0.10176	0.169	0.07419	0.138757226776	0.13463	0.14938984815313766	0.14860	0.0226149863449	0.02283	0.644986510277	0.59273	T	.	.	.	-0.151699	0.28045	T	-0.455681	0.27070	T	0.527356803417206	0.33636	D	0.760024	0.39305	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.087	0.19518	B	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	3.075069	0.41348	21.3	0.92163429794498986	0.21526	0.89290	0.49665	D	AEFBCI	0.484509	0.52449	N	-0.286740233897158	0.29659	1.646757	-0.110916402179087	0.34949	2.016218	0.9935509940591	0.33262	0.722319	0.85440	0	0.702456	0.74545	0	0.698795	0.65105	0	0.714379	0.83352	0	.	.	5.74	2.37	0.28337	2.727000	0.46981	3.594000	0.39199	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.1579:0.0:0.7009:0.1411	7.785	0.28253	169	0.93437	.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1516.43	96	chr17	46171732	.	G	T	1516.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.466;DP=606;ExcessHet=0;FS=0.775;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=15.8;ReadPosRankSum=0.173;SOR=0.799	GT:AD:DP:GQ:PL	0/1:44,52:96:99:1528,0,1332	9	0	1	0
chr17	47361422	47361422	C	T	exonic	EFCAB13	.	stopgain	EFCAB13:NM_152347:exon10:c.C706T:p.R236X	.	431	1062	27	2	0	31	0.0143852	.	.	.	3192602	EFCAB13-related_disorder	.	no_assertion_criteria_provided	Benign	.	.	.	.	.	.	.	.	.	.	0.0075	0.00339457	0.0077	0.0024	0.0079	0.0003	0.0065	0.0112	0.0066	0.0012	0.0076519	1183	154602	rs78865644	0.0097	0.0097	0.0098	0.0096	0.0125	0.0096	0.0095	0.0109	0.0109	0.0018	0.0083	0.0136	0.0003	0.0059	0.0125	0.0111	0.0088	0.0012	0.0077	0.0077	0.0081	0.0074	0.0124	0.0074	0.0072	0.0110	0.0104	0.0019	0.0187	0.0124	0.0147	0.0010	0.0062	0.0103	0.0106	0.0204	0.0010	.	.	.	.	.	.	.	.	.	.	.	.	0.757225	0.09652	N	0.836029	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.149	0.15187	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.178511	0.71906	D	0.495319	0.94515	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerant	High	8.038640	0.97114	37	0.99557563353057499	0.71583	0.46490	0.27771	N	AEFDBI	0.122007	0.23694	N	0.175533014441431	0.50026	3.196723	-0.0692286709326317	0.36669	2.136995	2.63050267202011E-6	0.01202	0.638212	0.43195	0	0.670034	0.63936	0	0.618467	0.43123	0	0.567892	0.33627	0	.	.	3.78	1.68	0.23219	1.498000	0.35268	0.440000	0.18415	-0.257000	0.07002	0.959000	0.33545	0.000000	0.08366	0.553000	0.30245	0.221:0.6593:0.0:0.1197	4.419	0.10897	540	0.73006	.	.	.	.	.	rs78865644	Likely benign	0	0	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	0.014602	0.030303	0.013587	0.017544	0.000000	0.008621	0.009146	0.003788	0.05	1392.43	125	chr17	47361422	.	C	T	1392.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=3.24;DP=434;ExcessHet=0;FS=1.428;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.14;ReadPosRankSum=0.465;SOR=0.632	GT:AD:DP:GQ:PL	0/1:72,53:125:99:1404,0,1655	9	0	1	0
chr17	50274530	50274530	C	T	exonic	TMEM92	.	nonsynonymous SNV	TMEM92:NM_153229:exon1:c.C29T:p.A10V,TMEM92:NM_001168215:exon2:c.C29T:p.A10V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.010	0.00857200189825	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs965347578	2.737e-05	2.736e-05	3.131e-05	2.338e-05	0.0003	2.063e-05	1.816e-05	8.865e-05	6.43e-05	0	0.0002	0	2.52e-05	0	0.0003	2.608e-05	0	0	0.0001	0.0001	0.0001	9.414e-05	0.0007	6.511e-05	5.322e-05	0.0004	0.0003	0	0	0.0007	0	0.0004	0	0	4.41e-05	0	0	1.0	0.00964	T	0.286	0.21277	T	0.022	0.18677	B	0.005	0.11217	B	0.005725	0.01092	N	4.361770	1	0.08975	N	0.695	0.17993	N	3.43	0.05440	T	-0.02	0.07299	N	0.049	0.21969	-0.9742	0.36301	T	0.009	0.03359	T	10	0.020655721	0.00480	T	0.008572	0.22655	T	0.010	0.01040	.	.	0.0297737177859	0.01360	0.31578624908777225	0.31491	0.247410418355	0.27288	0.349556446075	0.17856	T	0.002225	0.01623	T	-0.585264	0.00179	T	-0.793754	0.02063	T	0.116361156105995	0.14070	T	0.421058	0.11199	T	0.040974025	0.05948	0.034089968	0.02415	0.040974025	0.05948	0.034089968	0.02415	-3.202	0.12505	T	.	.	0.102	0.18247	B	.;.	.;.	0.418974	0.07896	4.600	0.83097051835621993	0.14540	0.02419	0.06836	N	AEFDGBHCI	0.040071	0.05910	N	-1.06529530033802	0.07291	0.338243	-1.0362334203659	0.08996	0.4451803	0.999997791498434	0.74766	0.72623	0.87236	0	0.296712	0.05252	1	0.594344	0.31042	0	0.620976	0.48614	0	.	.	4.33	-0.69	0.10741	-0.721000	0.05067	-1.655000	0.04976	-0.233000	0.07663	0.000000	0.06391	0.000000	0.08366	0.029000	0.12982	0.2151:0.2663:0.0:0.5186	2.854	0.05226	845	0.36510	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.05	970.43	71	chr17	50274530	.	C	T	970.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.867;DP=392;ExcessHet=0;FS=0.917;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.67;ReadPosRankSum=-0.328;SOR=0.518	GT:AD:DP:GQ:PL	0/1:34,37:71:99:982,0,821	9	0	1	0
chr17	50482287	50482287	C	T	exonic	RSAD1	.	nonsynonymous SNV	RSAD1:NM_018346:exon4:c.C671T:p.S224F	.	439	1079	4	0	0	4	0.00185014	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.629	.	.	0.00219649	0.0008	0	8.679e-05	0	0	0	0	0.0076	0.0007568	117	154602	rs199515699	0.0004	0.0004	0.0002	0.0006	0.0066	0.0004	0.0004	0.0062	0.0060	3.006e-05	0	0	0	0	0	9.052e-07	0.0004	0.0066	0.0002	0.0002	0.0001	0.0003	0.0064	0.0001	0.0001	0.0046	0.0040	0	0	0	0	0	0	0	0	0	0.0064	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	4.4	0.98649	H	1.71	0.26737	T	-5.49	0.85765	D	0.992	0.99822	0.036	0.82973	D	0.324	0.69272	T	10	0.06236419	0.07962	T	.	.	.	0.629	0.85718	0.709	0.84509	0.443592365053	0.43979	0.8867271271999881	0.88641	0.803477853689	0.66359	0.632889866829	0.57555	T	0.358058	0.72467	T	-0.0269067	0.47866	T	0.191047	0.82629	D	0.288364441580597	0.24521	T	0.933407	0.75038	D	0.86920255	0.88799	0.8086973	0.88818	0.86920255	0.88800	0.8086973	0.88819	-18.125	0.99573	D	.	.	0.945	0.86373	P	.	.	5.546205	0.92011	32	0.99848206170128206	0.92750	0.95755	0.66016	D	AEFDBCI	0.927220	0.90953	D	1.06612019596651	0.97454	16.15653	0.954797496366553	0.97545	16.31575	1.0	0.98316	0.712529	0.81865	0	0.635938	0.57008	0	0.779548	0.98927	0	0.691587	0.68394	0	.	.	5.37	5.37	0.76949	7.714000	0.83668	7.690000	0.65738	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.955000	0.50612	0.0:1.0:0.0:0.0	18.718	0.91648	896	0.25515	Radical SAM|Radical SAM|Elp3/MiaB/NifB	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1418.43	103	chr17	50482287	.	C	T	1418.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.362;DP=444;ExcessHet=0;FS=1.582;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.77;ReadPosRankSum=-1.307;SOR=0.593	GT:AD:DP:GQ:PL	0/1:50,53:103:99:1430,0,1340	9	0	1	0
chr17	59032079	59032079	C	T	exonic	TRIM37	.	nonsynonymous SNV	TRIM37:NM_001353085:exon16:c.G1303A:p.G435S,TRIM37:NM_001320987:exon17:c.G1663A:p.G555S,TRIM37:NM_001353082:exon17:c.G1663A:p.G555S,TRIM37:NM_001353086:exon17:c.G1714A:p.G572S,TRIM37:NM_001005207:exon18:c.G1765A:p.G589S,TRIM37:NM_001320988:exon18:c.G1765A:p.G589S,TRIM37:NM_001320989:exon18:c.G1765A:p.G589S,TRIM37:NM_001353083:exon18:c.G1030A:p.G344S,TRIM37:NM_001353084:exon18:c.G1765A:p.G589S,TRIM37:NM_015294:exon18:c.G1765A:p.G589S,TRIM37:NM_001320990:exon19:c.G1399A:p.G467S	Mulibrey nanism, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	1996214	Inborn_genetic_diseases|not_provided	MeSH:D030342,MedGen:C0950123|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.018	0.00734912095148	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	.	4.105e-06	4.104e-06	1.362e-06	6.877e-06	2.319e-05	1.48e-06	9.7e-07	3.85e-06	1.44e-06	0	0	0	0	0	0	2.698e-06	1.657e-05	2.319e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.241	0.17881	T	0.651	0.07059	T	0.0	0.02946	B	0.001	0.04355	B	0.011856	0.29379	N	0.384572	0.779366	0.34247	D	0.345	0.11182	N	1.67	0.35960	T	-0.27	0.13226	N	0.203	0.23758	-0.9390	0.42774	T	0.124	0.42841	T	10	0.09211865	0.16193	T	0.007349	0.19496	T	0.018	0.03083	0.202	0.11659	0.233785782151	0.22967	0.13712882138976565	0.13636	0.21770708725	0.24293	0.355576813221	0.18741	T	0.104399	0.41392	T	-0.207312	0.19760	T	-0.535566	0.18735	T	0.254927963018417	0.23092	T	0.770923	0.40135	T	0.031485643	0.02998	0.04181572	0.04840	0.031485643	0.02997	0.04181572	0.04839	-2.386	0.05047	T	.	.	0.066	0.03093	B	.;.;.	.;.;.	2.084385	0.26515	17.14	0.97613721287192445	0.34921	0.64915	0.32563	D	AEFDBI	0.101262	0.20342	N	-0.435258499899893	0.24243	1.307621	-0.270974319459174	0.29059	1.625087	0.00669668192215108	0.11284	0.732398	0.92422	0	0.708844	0.79440	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	5.75	3.75	0.42236	1.424000	0.34456	3.923000	0.40484	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.868000	0.41282	0.0:0.7965:0.0:0.2035	10.941	0.46487	496	0.76301	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1512.43	111	chr17	59032079	.	C	T	1512.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.223;DP=424;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.63;ReadPosRankSum=1.41;SOR=0.687	GT:AD:DP:GQ:PL	0/1:51,60:111:99:1524,0,1263	9	0	1	0
chr17	61968034	61968034	C	G	splicing	MED13	NM_005121:exon18:c.4191+1G>C	.	.	.	.	.	.	.	.	.	.	1.0000	0.938	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.588e-05	0.0003	2.232e-05	2.945e-05	3.23e-05	1.91e-05	1.667e-05	2.345e-05	2.075e-05	3.058e-05	0	0	0	0	0	3.23e-05	1.685e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.434982	0.91780	D	0.387045	0.91678	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.230299	0.94839	34	0.99425828103495784	0.63984	0.99078	0.90902	D	AEFDGBI	.	.	.	1.18346581302745	0.99385	22.32749	1.03762206024886	0.99231	21.357	0.999999999803192	0.74766	0.156188	0.03335	0	0.156173	0.03658	0	0.128073	0.03558	0	0.089874	0.02613	0	0.978971	0.83387	5.44	5.44	0.79348	7.568000	0.81546	7.706000	0.66547	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:1.0:0.0:0.0	19.245	0.93883	91	0.96221	.	.	.	.	.	.	Uncertain significance	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.375	260.82	69	chr17	61968034	.	C	G	260.82	.	AC=6;AF=0.375;AN=16;BaseQRankSum=-1.413;DP=565;ExcessHet=4.5998;FS=188.81;InbreedingCoeff=-0.5387;MLEAC=7;MLEAF=0.438;MQ=60;MQRankSum=0;QD=0.83;ReadPosRankSum=1.49;SOR=10.074	GT:AD:DP:GQ:PL	0/1:37,20:69:42:42,0,323	2	0	6	2
chr17	63435693	63435693	C	G	exonic	CYB561	.	nonsynonymous SNV	CYB561:NM_001017916:exon4:c.G400C:p.V134L,CYB561:NM_001017917:exon4:c.G400C:p.V134L,CYB561:NM_001330421:exon4:c.G421C:p.V141L,CYB561:NM_001915:exon4:c.G400C:p.V134L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.075	0.00243883470744	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.02639	T	1.0	0.04129	T	0.001	0.09854	B	0.001	0.06944	B	0.271515	0.15119	N	0.647905	0.998867	0.23621	N	-1.145	0.00921	N	1.12	0.38718	T	1.3	0.04613	N	0.201	0.23758	-1.0202	0.23649	T	0.022	0.09559	T	10	0.049892396	0.04644	T	0.002439	0.04813	T	0.075	0.21907	0.508	0.60386	0.082315109003	0.07666	0.31807046434523567	0.31720	0.280192948773	0.30498	0.370396524668	0.20889	T	0.066963	0.33080	T	-0.355914	0.04367	T	-0.749022	0.03524	T	0.0540462881326675	0.06196	T	0.725927	0.35329	T	0.026429305	0.01700	0.030777156	0.01576	0.026429305	0.01700	0.030777156	0.01576	-1.52	0.02208	T	0.08005050367732677	0.04002	0.087	0.15564	B	.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.	0.371750	0.07437	4.073	0.89929855699295858	0.19228	0.06495	0.12504	N	AEFDGBHCI	0.086571	0.17553	N	-1.32041193364316	0.03442	0.1537629	-1.24136379210236	0.05260	0.2502033	0.999999773003233	0.74766	0.712529	0.81865	0	0.588066	0.40923	0	0.635938	0.45252	0	0.723	0.93126	0	.	.	4.43	-1.44	0.08391	-0.660000	0.05416	-0.235000	0.10642	0.524000	0.24156	0.000000	0.06391	0.000000	0.08366	0.936000	0.47498	0.2525:0.2565:0.2482:0.2428	0.296	0.00247	940	0.13648	Cytochrome b561/ferric reductase transmembrane|Cytochrome b561/ferric reductase transmembrane|Cytochrome b561/ferric reductase transmembrane;Cytochrome b561/ferric reductase transmembrane|Cytochrome b561/ferric reductase transmembrane|Cytochrome b561/ferric reductase transmembrane;Cytochrome b561/ferric reductase transmembrane|Cytochrome b561/ferric reductase transmembrane|Cytochrome b561/ferric reductase transmembrane;Cytochrome b561/ferric reductase transmembrane|Cytochrome b561/ferric reductase transmembrane|Cytochrome b561/ferric reductase transmembrane;Cytochrome b561/ferric reductase transmembrane|Cytochrome b561/ferric reductase transmembrane|Cytochrome b561/ferric reductase transmembrane;.;Cytochrome b561/ferric reductase transmembrane|Cytochrome b561/ferric reductase transmembrane|Cytochrome b561/ferric reductase transmembrane;Cytochrome b561/ferric reductase transmembrane|Cytochrome b561/ferric reductase transmembrane|Cytochrome b561/ferric reductase transmembrane;Cytochrome b561/ferric reductase transmembrane|Cytochrome b561/ferric reductase transmembrane|Cytochrome b561/ferric reductase transmembrane;Cytochrome b561/ferric reductase transmembrane|Cytochrome b561/ferric reductase transmembrane|Cytochrome b561/ferric reductase transmembrane	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1	3953.12	128	chr17	63435693	.	C	G	3953.12	.	AC=2;AF=0.1;AN=20;DP=441;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.1;MQ=60;QD=30.88;SOR=1.573	GT:AD:DP:GQ:PL	1/1:0,128:128:99:3976,384,0	9	1	0	0
chr17	63872555	63872555	C	T	exonic	CSH2	.	nonsynonymous SNV	CSH2:NM_022644:exon4:c.G478A:p.A160T	.	0	1505	16	0	1	17	0.00528751	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.135	0.00958917424235	0.0003	0.00179712	0.0013	0.0004	0.0026	0	0	0.0011	0.0033	0.0027	0.0013777	213	154602	rs1811082	0.0007	0.0011	0.0006	0.0007	0.0075	0.0006	0.0006	0.0057	0.0051	0.0004	0.0020	0.0029	0.0001	0	0.0075	0.0005	0.0013	0.0019	0.0009	0.0011	0.0010	0.0008	0.0025	0.0008	0.0007	0.0019	0.0016	0.0003	0	0.0025	0.0055	0	9.429e-05	0.0103	0.0008	0.0033	0.0015	0.028	0.46129	D	0.058	0.46182	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	-2.35	0.88066	D	-0.09	0.08340	N	0.054	0.02559	-0.8368	0.52858	T	0.242	0.61060	T	8	0.006950289	0.00158	T	0.009589	0.25085	T	0.135	0.36572	.	.	0.0846915920261	0.08053	.	.	.	.	.	.	.	.	.	.	-0.414725	0.01850	T	-0.375764	0.36217	T	0.00215468234746831	0.00022	T	0.234876	0.03235	T	.	.	.	.	.	.	.	.	-3.692	0.19200	T	.	.	0.083	0.09433	B	.	.	0.589305	0.09576	6.353	0.72068831384837162	0.09845	0.00182	0.01064	N	AEFI	0.016340	0.00362	N	-1.64488747935536	0.01057	0.04585317	-1.68511492327851	0.01204	0.05423025	2.46848498165473E-5	0.03498	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	3.07	-2.18	0.06643	-0.184000	0.09693	-0.664000	0.07966	-0.962000	0.01975	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.2471:0.1768:0.3735:0.2027	0.605	0.00702	875	0.30485	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.007431	0.005051	0.012228	0.008197	0.000000	0.017241	0.000000	0.000000	0.05	2838.43	256	chr17	63872555	.	C	T	2838.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.555;DP=590;ExcessHet=0;FS=4.194;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=55.39;MQRankSum=-2.032;QD=11.09;ReadPosRankSum=2.58;SOR=0.613	GT:AD:DP:GQ:PL	0/1:136,120:256:99:2850,0,3395	9	0	1	0
chr17	73423412	73423412	C	T	exonic	SDK2	.	nonsynonymous SNV	SDK2:NM_001144952:exon14:c.G1871A:p.R624H	.	435	1086	1	0	0	1	0.000460193	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.063	0.00584993893565	0.0003	0.000199681	0.0001	0.0009	0	0	0	0	0	0	4.53e-05	7	154602	rs147076298	2.587e-05	3.557e-05	2.556e-05	2.618e-05	0.0005	1.894e-05	1.681e-05	0.0003	0.0002	0.0005	0	0	0	0	0	1.769e-05	1.744e-05	1.332e-05	0.0001	0.0001	0.0001	9.395e-05	0.0003	6.505e-05	5.318e-05	0.0002	0.0002	0.0003	0	0	0.0006	0	0	0	0	0	0	0.164	0.23360	T	0.189	0.28575	T	0.001	0.07471	B	0.007	0.12992	B	0.000000	0.84330	D	0.054136	0.999999	0.58761	D	0.82	0.20857	L	0.39	0.57419	T	-0.35	0.12847	N	0.301	0.34012	-1.0590	0.12007	T	0.098	0.36600	T	10	0.039037645	0.02364	T	0.00585	0.15221	T	0.063	0.18251	.	.	0.575180444326	0.57186	0.35306431544063743	0.35220	0.377242744359	0.39159	0.36747944355	0.20470	T	0.037086	0.24346	T	-0.404015	0.02179	T	-0.438621	0.28963	T	0.103108546121319	0.12696	T	0.873613	0.58243	D	0.102301024	0.24172	0.09714098	0.23110	0.102301024	0.24172	0.09714098	0.23110	-6.457	0.49953	T	.	.	0.080	0.07650	B	.	.	3.463664	0.48288	22.6	0.9977809181700652	0.86519	0.89738	0.50397	D	AEFDGBI	0.275792	0.39067	N	-0.140896045913342	0.35623	2.048541	0.0852427269849397	0.43806	2.674762	0.176962221584233	0.17817	0.706548	0.73137	0	0.547309	0.14657	0	0.724815	0.87919	0	0.564101	0.26826	0	.	.	5.83	4.68	0.58319	1.828000	0.38750	1.050000	0.23629	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.962000	0.52141	0.0:0.9244:0.0:0.0756	15.816	0.78379	474	0.77851	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	0.002014	0.000000	0.005435	0.000000	0.000000	0.000000	0.000000	0.000000	0.1	1985.12	63	chr17	73423412	.	C	T	1985.12	.	AC=2;AF=0.1;AN=20;DP=370;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.1;MQ=60;QD=31.51;SOR=0.724	GT:AD:DP:GQ:PL	1/1:0,63:63:99:2008,188,0	9	1	0	0
chr17	81813627	81813627	G	C	exonic	GCGR	.	nonsynonymous SNV	GCGR:NM_000160:exon14:c.G1372C:p.D458H	.	400	1108	14	0	0	14	0.00627803	.	.	.	715832	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.035	.	.	0.00419329	0.0025	0.0095	0.0066	0	0	0.0028	0.0060	0.0005	0.0006468	100	154602	rs138492107	0.0012	0.0012	0.0012	0.0013	0.0118	0.0012	0.0012	0.0099	0.0096	0.0109	0.0025	0.0050	0	0	0.0118	0.0008	0.0028	0.0003	0.0040	0.0040	0.0042	0.0037	0.0103	0.0037	0.0036	0.0095	0.0092	0.0103	0.0143	0.0039	0.0026	0	0	0.0102	0.0011	0.0057	0.0004	0.117	0.28271	T	0.135	0.34124	T	0.574	0.38693	P	0.137	0.33328	B	.	.	.	.	1	0.08975	N	1.895	0.50365	L	0.67	0.52187	T	-0.25	0.11008	N	0.104	0.08786	-1.0786	0.07622	T	0.050	0.21182	T	9	0.0039077997	0.00074	T	.	.	.	0.035	0.08770	.	.	0.602481039113	0.59930	0.45310581307588915	0.45228	0.00427848688509	0.00378	0.51581710577	0.41038	T	0.09254	0.39024	T	-0.540583	0.00332	T	-0.539892	0.18306	T	0.00787486741859115	0.00093	T	0.491951	0.15143	T	0.034115586	0.03767	0.045958523	0.06299	0.027961636	0.02063	0.051370718	0.08253	-4.13	0.25730	T	.	.	0.106	0.19839	B	.	.	1.237391	0.16329	12.47	0.71745044104477607	0.09734	0.19543	0.20701	N	AEFDBI	0.703776	0.65970	D	-0.849401069739707	0.12065	0.5858335	-0.917859422455098	0.11672	0.5961128	0.0573001970497789	0.15087	0.516011	0.20929	0	0.610034	0.51514	0	0.576033	0.28219	0	0.562822	0.20929	0	.	.	4.21	2.21	0.27042	0.421000	0.20999	1.427000	0.26414	-0.113000	0.14837	0.000000	0.06391	0.004000	0.18990	0.003000	0.05239	0.2216:0.0:0.7784:0.0	6.665	0.22229	.	.	.	.	.	.	.	.	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	0	0	1	0	0.013784	0.037975	0.034247	0.005000	0.000000	0.000000	0.000000	0.000000	0.05	1296.43	105	chr17	81813627	.	G	C	1296.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.53;DP=427;ExcessHet=0;FS=2.574;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.35;ReadPosRankSum=0.404;SOR=1.03	GT:AD:DP:GQ:PL	0/1:55,50:105:99:1308,0,1248	9	0	1	0
chr17	82322268	82322268	A	T	exonic	SECTM1	.	nonsynonymous SNV	SECTM1:NM_003004:exon5:c.T640A:p.S214T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.038	0.00265390067575	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.565	0.06282	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	-0.69	0.01958	N	.	.	.	-0.07	0.08033	N	0.059	0.03069	-1.0348	0.18920	T	0.033	0.13986	T	8	0.031230569	0.01256	T	0.002654	0.05406	T	0.038	0.09825	0.077	0.00572	0.0297737177859	0.01360	0.027832803006205806	0.02733	0.121801063686	0.13726	0.262978225946	0.05249	T	0.008384	0.07706	T	-0.388804	0.02739	T	-0.796266	0.01997	T	0.019934226235784	0.00694	T	0.307069	0.05914	T	0.052567743	0.09824	0.036751214	0.03185	0.052567743	0.09824	0.036751214	0.03184	-3.763	0.20253	T	.	.	0.081	0.08176	B	.	.	-0.569078	0.01659	0.117	0.28252163804754304	0.01442	0.01036	0.03877	N	AEFDGBCI	0.061930	0.11872	N	-1.76810276438476	0.00628	0.02707791	-1.8390277119024	0.00642	0.0285435	0.999992511805906	0.74766	0.653496	0.48692	0	0.596491	0.49125	0	0.576033	0.28219	0	0.683535	0.66460	0	.	.	0.775	-1.55	0.08105	-0.693000	0.05222	0.050000	0.13987	-1.810000	0.00613	0.000000	0.06391	0.001000	0.17328	0.002000	0.04165	0.2668:0.0:0.4029:0.3303	1.648	0.02598	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	1789.43	135	chr17	82322268	.	A	T	1789.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.733;DP=453;ExcessHet=0;FS=3.07;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.26;ReadPosRankSum=-1.699;SOR=0.479	GT:AD:DP:GQ:PL	0/1:71,64:135:99:1801,0,2099	9	0	1	0
chr18	3067300	3067300	C	T	exonic	MYOM1	.	nonsynonymous SNV	MYOM1:NM_019856:exon37:c.G4732A:p.A1578T,MYOM1:NM_003803:exon38:c.G5020A:p.A1674T	.	.	.	.	.	.	.	.	.	.	.	2432574	not_provided|not_specified	MedGen:C3661900|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.060	0.00786888402396	.	.	9.725e-06	0	0	0	0	1.744e-05	0	0	6.5e-06	1	154602	rs761995377	9.605e-06	1.026e-05	9.554e-06	9.658e-06	2.998e-05	5.57e-06	4.36e-06	6.53e-06	5.03e-06	2.998e-05	0	0	0	0	0	1.17e-05	0	0	6.57e-06	6.566e-06	1.284e-05	0	2.411e-05	0	0	.	.	2.411e-05	0	0	0	0	0	0	0	0	0	0.238	0.17821	T	0.507	0.11479	T	0.002	0.12183	B	0.001	0.06944	B	0.254121	0.03666	N	1.505790	1	0.08975	N	1.01	0.25309	L	0.98	0.47477	T	-0.47	0.17834	N	0.058	0.02964	-1.0505	0.14258	T	0.085	0.33185	T	10	0.060941756	0.07566	T	0.007869	0.20877	T	0.060	0.17295	0.23	0.15705	0.107399877778	0.10242	0.39910162728733783	0.39825	0.134347377349	0.15131	0.227364003658	0.01779	T	0.022761	0.17490	T	-0.384269	0.02928	T	-0.789752	0.02171	T	0.0578441768884659	0.06824	T	0.653935	0.26417	T	0.03268784	0.03342	0.047353525	0.06801	0.03268784	0.03342	0.047353525	0.06801	-5.372	0.42110	T	.	.	0.191	0.46585	B	.;.;.	.;.;.	-0.016653	0.04170	1.005	0.93115447722689726	0.22749	0.08415	0.14347	N	AEFDBCIJ	0.227062	0.35092	N	-1.26708683162456	0.04078	0.1834008	-1.38816250930932	0.03377	0.1574178	0.999941008848651	0.47345	0.554377	0.28877	0	0.588066	0.40923	0	0.48864	0.07692	0	0.564101	0.26826	0	.	.	5.23	-6.19	0.01900	-1.680000	0.02040	-6.374000	0.01416	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.005000	0.06747	0.1826:0.1476:0.4461:0.2238	3.148	0.06091	867	0.32089	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	1154.43	93	chr18	3067300	.	C	T	1154.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.33;DP=425;ExcessHet=0;FS=0.846;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.41;ReadPosRankSum=1.38;SOR=0.524	GT:AD:DP:GQ:PL	0/1:48,45:93:99:1166,0,1316	9	0	1	0
chr18	9887397	9887397	C	0	exonic	TXNDC2	.	.	.	.	477	317	422	139	167	867	0.524738	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3	53060.1	364	chr18	9887397	.	C	*	53060.1	.	AC=6;AF=0.3;AN=20;BaseQRankSum=1.52;DP=4775;ExcessHet=0.2065;FS=0;InbreedingCoeff=0.2;MLEAC=6;MLEAF=0.3;MQ=59.51;MQRankSum=-0.379;QD=15.12;ReadPosRankSum=-0.189;SOR=0.651	GT:AD:DP:GQ:PGT:PID:PL:PS	1/0:3,150:364:99:.:.:12055,6043,8022:.	4	0	6	0
chr18	12699902	12699902	T	C	exonic	CEP76	.	nonsynonymous SNV	CEP76:NM_001271989:exon3:c.A223G:p.S75G,CEP76:NM_024899:exon3:c.A223G:p.S75G	.	452	1068	2	0	0	2	0.000935454	.	.	.	4120373	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.206	0.0251757255277	.	.	4.088e-05	0	0	0	0	8.015e-05	0	0	3.88e-05	6	154602	rs752510161	2.306e-05	3.078e-05	2.083e-05	2.531e-05	0.0016	1.644e-05	1.447e-05	0.0009	0.0006	0	0	0	0	0	0.0016	1.914e-05	1.69e-05	2.49e-05	2.635e-05	2.629e-05	1.287e-05	4.049e-05	6.569e-05	8.16e-06	5.15e-06	.	.	0	0	6.569e-05	0	0	0	0	1.472e-05	0.0010	0	0.416	0.12961	T	0.389	0.15554	T	0.001	0.09854	B	0.0	0.10090	B	0.629813	0.05805	N	1.158660	1	0.08975	N	-0.345	0.03330	N	-1.29	0.79571	T	-0.15	0.20358	N	0.111	0.10056	-0.8684	0.50650	T	0.248	0.61704	T	10	0.045547605	0.03638	T	0.025176	0.48158	D	0.206	0.49396	.	.	0.676464442291	0.67371	0.14637729665394433	0.14559	0.424776390629	0.42897	0.273124098778	0.06552	T	0.025536	0.19075	T	-0.234503	0.16057	T	-0.457173	0.26907	T	0.0278832448154101	0.01671	T	0.531747	0.17685	T	0.07593309	0.17142	0.047085322	0.06705	0.07593309	0.17141	0.047085322	0.06704	-3.53	0.22362	T	0.088944710104166	0.05384	0.064	0.02313	B	.;.	.;.	2.486910	0.32083	18.93	0.777707301609318	0.12015	0.05865	0.11811	N	AEFDBHCI	0.121027	0.23549	N	-0.517336484371236	0.21519	1.142618	-0.339868836275048	0.26825	1.484204	0.999999920500012	0.74766	0.643511	0.44296	0	0.662677	0.63036	0	0.65145	0.50148	0	0.631631	0.49550	0	.	.	5.79	3.4	0.38031	1.300000	0.33040	4.237000	0.42685	0.665000	0.62972	0.004000	0.16614	0.991000	0.31484	0.995000	0.73285	0.0:0.0859:0.1671:0.7471	6.728	0.22557	619	0.66147	.;.	.	.	.	.	.	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	0.001515	0.000000	0.001362	0.005848	0.000000	0.000000	0.000000	0.000000	0.05	385.51	29	chr18	12699902	.	T	C	385.51	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.106;DP=221;ExcessHet=0;FS=6.273;InbreedingCoeff=-0.0589;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.29;ReadPosRankSum=-0.355;SOR=2.179	GT:AD:DP:GQ:PL	0/1:12,17:29:99:397,0,323	9	0	1	0
chr18	14513679	14513679	T	G	exonic	POTEC	.	nonsynonymous SNV	POTEC:NM_001137671:exon10:c.A1516C:p.K506Q	.	1001	337	183	1	0	185	0.215367	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.021	0.000961216431828	.	.	.	.	.	.	.	.	.	.	8.41e-05	13	154602	rs28606506	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.061	0.37118	T	0.267	0.22561	T	0.455	0.36245	P	0.137	0.33328	B	.	.	.	.	1	0.08975	N	2.35	0.67516	M	1.38	0.34050	T	0.11	0.05706	N	0.36	0.40164	-1.0459	0.15563	T	0.060	0.25273	T	9	0.10279083	0.18859	T	9.61E-4	0.00980	T	0.021	0.04004	0.44	0.49484	0.191931220699	0.18833	0.008575884169956268	0.00821	.	.	0.661467790604	0.61620	T	0.009409	0.08568	T	-0.232587	0.16309	T	-0.571872	0.15279	T	0.115140116944907	0.13948	T	0.559044	0.19511	T	0.0817621	0.18801	0.04864013	0.07268	0.0817621	0.18801	0.04864013	0.07268	-3.826	0.21193	T	.	.	0.126	0.26545	B	.	.	1.424813	0.18423	13.73	0.59010782571540543	0.06124	0.01638	0.05273	N	AEFI	0.034532	0.04293	N	-0.924811265974744	0.10264	0.4896489	-1.10812489953313	0.07544	0.3673648	1.29605380073252E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.53	-0.976	0.09761	1.060000	0.30139	.	.	0.332000	0.19570	0.003000	0.16062	0.000000	0.08366	0.028000	0.12845	0.0:0.4792:0.0:0.5208	4.177	0.09818	940	0.13648	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.4	3102.99	249	chr18	14513679	.	T	G	3102.99	.	AC=8;AF=0.4;AN=20;BaseQRankSum=2.54;DP=1927;ExcessHet=10.3881;FS=9.616;InbreedingCoeff=-0.6668;MLEAC=8;MLEAF=0.4;MQ=51.26;MQRankSum=-8.212;QD=2.03;ReadPosRankSum=-3.641;SOR=1.694	GT:AD:DP:GQ:PL	0/1:222,27:249:99:108,0,6340	2	0	8	0
chr18	23561450	23561450	C	T	exonic	NPC1	.	nonsynonymous SNV	NPC1:NM_000271:exon5:c.G541A:p.A181T	Niemann-Pick disease, type C1, Autosomal recessive;Niemann-Pick disease, type D, Autosomal recessive	0	1519	3	0	0	3	0.000986518	.	.	.	489385	not_provided|Niemann-Pick_disease,_type_C1|Inborn_genetic_diseases	MedGen:C3661900|MONDO:MONDO:0009757,MedGen:C3179455,OMIM:257220,Orphanet:646|MeSH:D030342,MedGen:C0950123	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.376	0.0887321777392	.	0.000199681	8.236e-05	0	0.0002	0.0005	0	4.495e-05	0	6.056e-05	9.06e-05	14	154602	rs199963560	0.0001	0.0001	9.529e-05	0.0001	0.0010	9.334e-05	8.817e-05	0.0005	0.0003	2.987e-05	0.0002	0	0.0004	0	0.0010	6.655e-05	0.0007	0.0001	0.0001	0.0001	8.993e-05	0.0001	0.0010	7.085e-05	5.742e-05	0.0004	0.0002	0	0	0.0004	0	0.0010	0	0	7.349e-05	0.0005	0	0.042	0.41637	D	0.111	0.37173	T	0.494	0.37037	P	0.082	0.29098	B	0.000004	0.62929	D	0.105771	1	0.81001	D	2.615	0.76484	M	-2.39	0.88377	D	-2.67	0.57110	D	0.586	0.60664	0.250	0.86749	D	0.613	0.86305	D	10	0.2908238	0.46662	T	0.088732	0.75190	D	0.376	0.69443	.	.	0.860940065329	0.85959	0.7748344976421648	0.77433	0.314042582292	0.33690	0.491284817457	0.37616	T	0.761398	0.93539	D	-0.156312	0.27329	T	-0.105931	0.62934	T	0.167528550450238	0.18411	T	0.817118	0.47377	T	0.25175914	0.48186	0.24432768	0.49896	0.25175914	0.48186	0.24432768	0.49895	-6.176	0.47728	T	.	.	0.085	0.10400	B	.	.	3.352708	0.46249	22.3	0.99833447753613591	0.91456	0.98369	0.82077	D	AEFBI	0.715380	0.66756	D	0.243589612786723	0.53324	3.501668	0.309670821834889	0.56107	3.77371	0.999999423432441	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.5	5.5	0.81386	6.091000	0.71052	2.725000	0.34343	-0.212000	0.08331	0.999000	0.42656	0.993000	0.31925	0.791000	0.37352	0.0:0.8636:0.1364:0.0	15.771	0.77935	600	0.68026	Niemann-Pick C1, N-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1349.43	117	chr18	23561450	.	C	T	1349.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.709;DP=428;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.53;ReadPosRankSum=0.554;SOR=0.713	GT:AD:DP:GQ:PL	0/1:55,62:117:99:1361,0,1158	9	0	1	0
chr18	31403566	31403566	C	T	exonic	DSG4	.	nonsynonymous SNV	DSG4:NM_001134453:exon11:c.C1568T:p.P523L,DSG4:NM_177986:exon11:c.C1568T:p.P523L	Hypotrichosis 6, Autosomal recessive	2	1440	77	3	0	83	0.0280121	.	.	.	237228	not_provided|Hypotrichosis_6	MedGen:C3661900|MONDO:MONDO:0011932,MedGen:C1842839,OMIM:607903,Orphanet:55654	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.436	.	0.0073	0.00798722	0.0086	0.0009	0.0049	0.0001	0.0014	0.0090	0.0099	0.0219	0.0083893	1297	154602	rs34620697	0.0073	0.0073	0.0067	0.0079	0.0193	0.0072	0.0071	0.0185	0.0182	0.0008	0.0053	0.0099	5.039e-05	0.0020	0.0180	0.0070	0.0083	0.0193	0.0054	0.0054	0.0055	0.0053	0.0197	0.0051	0.0050	0.0165	0.0153	0.0011	0.0154	0.0056	0.0101	0.0002	0.0012	0.0068	0.0077	0.0057	0.0197	0.001	0.78490	D	0.003	0.76473	D	1.0	0.90584	D	0.998	0.92359	D	0.003957	0.34294	N	0.000000	1	0.81001	D	3.7	0.94612	H	-0.01	0.62762	T	-7.66	0.95511	D	0.672	0.67995	-0.0615	0.80961	T	0.425	0.76890	T	10	0.0106598735	0.00236	T	.	.	.	0.436	0.74093	.	.	0.927137678208	0.92639	0.652556277191424	0.65191	0.248225803681	0.27384	0.45504295826	0.32633	T	0.624655	0.88286	D	-0.2795	0.10720	T	-0.158002	0.58531	T	0.0894284915205194	0.11150	T	0.851115	0.53499	D	0.43418938	0.63025	0.5285101	0.72758	0.46111244	0.64740	0.5285101	0.72759	-7.308	0.56253	T	.	.	0.417	0.60533	A	.;.	.;.	4.483836	0.69979	25.5	0.99870903935111033	0.94815	0.88443	0.48373	D	AEFGBHCIJ	0.497987	0.53228	N	0.794065608974443	0.85734	8.665106	0.729373834982191	0.84610	8.339843	0.999999999997648	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	6.01	6.01	0.97420	4.117000	0.57623	5.930000	0.51304	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.287000	0.24188	0.0:1.0:0.0:0.0	20.125	0.97974	718	0.55760	.;.	.	.	.	.	.	Likely benign	0	0	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	0.014602	0.010101	0.009511	0.000000	0.000000	0.008621	0.018293	0.041667	0.15	4496.45	135	chr18	31403566	.	C	T	4496.45	.	AC=3;AF=0.15;AN=20;BaseQRankSum=2.43;DP=690;ExcessHet=0.7463;FS=1.778;InbreedingCoeff=-0.1765;MLEAC=3;MLEAF=0.15;MQ=60;MQRankSum=0;QD=10.31;ReadPosRankSum=-0.474;SOR=0.851	GT:AD:DP:GQ:PL	0/1:77,58:135:99:1459,0,1660	7	0	3	0
chr18	31541297	31541297	G	A	exonic	DSG2	.	nonsynonymous SNV	DSG2:NM_001943:exon13:c.G1984A:p.A662T	Arrhythmogenic right ventricular dysplasia 10, Autosomal dominant;Cardiomyopathy, dilated, 1BB	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.426	0.0891150511824	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1186896680	1.368e-06	1.368e-06	2.723e-06	0	2.236e-05	2.3e-07	9e-08	.	.	0	2.236e-05	0	0	0	0	8.995e-07	0	0	6.575e-06	6.568e-06	1.285e-05	0	6.549e-05	0	0	.	.	0	0	6.549e-05	0	0	0	0	0	0	0	0.0	0.91255	D	0.021	0.58089	D	1.0	0.90584	D	0.999	0.92359	D	0.000006	0.62929	D	0.000000	0.999817	0.49394	D	3.05	0.86762	M	-0.92	0.75108	T	-3.52	0.68412	D	0.56	0.58458	0.372	0.88677	D	0.658	0.88122	D	10	0.69900656	0.72324	D	0.089115	0.75265	D	0.426	0.73372	0.21	0.12781	0.956247277456	0.95578	0.9288824395156199	0.92866	0.414509619234	0.42131	0.434575915337	0.29834	T	0.621993	0.88164	D	0.0720377	0.61095	D	-0.051434	0.66924	D	0.993339002132416	0.84094	D	0.858914	0.54988	D	0.6406292	0.74865	0.679	0.81137	0.6406292	0.74866	0.679	0.81138	-8.715	0.65844	D	0.8609242873125713	0.92441	0.562	0.67302	A	.	.	4.707566	0.75589	26.4	0.99913393119932348	0.98238	0.99258	0.93561	D	AEFBI	0.734853	0.68086	D	0.925276561188041	0.92941	11.723	0.887186071652214	0.94988	13.21417	0.999999990424555	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.564101	0.26826	0	.	.	5.86	5.86	0.93936	6.638000	0.74166	11.800000	0.96626	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.981000	0.58702	0.0:0.0:1.0:0.0	20.563	0.99337	702	0.57624	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4375	1362.11	52	chr18	31541297	.	G	A	1362.11	.	AC=7;AF=0.438;AN=16;BaseQRankSum=-0.721;DP=562;ExcessHet=7.0302;FS=370.853;InbreedingCoeff=-0.6667;MLEAC=8;MLEAF=0.5;MQ=60;MQRankSum=0;QD=3.35;ReadPosRankSum=1.53;SOR=10.577	GT:AD:DP:GQ:PL	0/1:25,22:52:99:124,0,413	1	0	7	2
chr18	37067197	37067197	G	A	exonic	KIAA1328	.	nonsynonymous SNV	KIAA1328:NM_001322327:exon6:c.G560A:p.C187Y,KIAA1328:NM_001353919:exon6:c.G560A:p.C187Y,KIAA1328:NM_001353918:exon7:c.G872A:p.C291Y,KIAA1328:NM_020776:exon7:c.G884A:p.C295Y,KIAA1328:NM_001353920:exon8:c.G32A:p.C11Y	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.114	0.00495282325438	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.841e-07	6.84e-07	1.361e-06	0	8.994e-07	0	0	.	.	0	0	0	0	0	0	8.994e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.981	0.02004	T	1.0	0.03324	T	0.001	0.12183	B	0.002	0.10090	B	0.066107	0.21833	N	0.492799	1	0.08975	N	0.995	0.25082	L	1.0	0.41392	T	-2.1	0.47852	N	0.081	0.14054	-1.0339	0.19205	T	0.038	0.16376	T	10	0.04781583	0.04150	T	0.004953	0.12473	T	0.114	0.32008	0.24	0.17218	0.0884992946249	0.08302	0.12486170782916084	0.12412	0.0693334402013	0.07761	0.349928975105	0.17912	T	0.024333	0.18409	T	-0.281787	0.10479	T	-0.642544	0.09485	T	0.114724479615688	0.13906	T	0.662434	0.28129	T	0.03804784	0.04996	0.067671165	0.14031	0.03804784	0.04996	0.067671165	0.14031	-3.62	0.18147	T	.	.	0.075	0.13174	B	.;.;.;.;.	.;.;.;.;.	0.712451	0.10815	7.495	0.20846672331132926	0.00768	0.17205	0.19735	N	AEFGI	0.089171	0.18075	N	-0.990119155275313	0.08813	0.4147193	-0.924159477584458	0.11525	0.5876435	4.19662457214258E-5	0.03989	0.638212	0.43195	0	0.588015	0.36545	0	0.658983	0.55881	0	0.668105	0.65232	0	.	.	6.17	1.01	0.19044	0.347000	0.19760	1.733000	0.28342	0.676000	0.76740	0.648000	0.28154	0.820000	0.27118	0.027000	0.12703	0.2504:0.2192:0.3296:0.2008	0.508	0.00551	738	0.53389	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2	592.8	251	chr18	37067197	.	G	A	592.8	.	AC=4;AF=0.2;AN=20;BaseQRankSum=-7.587;DP=1619;ExcessHet=1.5895;FS=165.612;InbreedingCoeff=-0.2259;MLEAC=3;MLEAF=0.15;MQ=60;MQRankSum=0;QD=0.56;ReadPosRankSum=1.5;SOR=11.043	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:204,35:251:3:.:.:3,0,4579:.	6	0	4	0
chr18	46592025	46592025	T	C	exonic	LOXHD1	.	nonsynonymous SNV	LOXHD1:NM_001384474:exon12:c.A1562G:p.N521S,LOXHD1:NM_144612:exon12:c.A1562G:p.N521S	Deafness, autosomal recessive 77, Autosomal recessive	0	1518	4	0	0	4	0.00131579	.	.	.	1514212	Autosomal_recessive_nonsyndromic_hearing_loss_77|not_specified|not_provided	MONDO:MONDO:0013119,MedGen:C2746083,OMIM:613079,Orphanet:90636|MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.112	0.00938406953772	.	.	4.192e-05	0	0	0	0	0.0001	0	0	1.29e-05	2	154602	rs556312555	4.643e-05	4.446e-05	5.074e-05	4.2e-05	0.0004	3.733e-05	3.401e-05	9.627e-05	7.623e-05	3.165e-05	5.601e-05	0	0	0	0.0004	4.263e-05	1.719e-05	0.0002	3.942e-05	3.94e-05	1.285e-05	6.723e-05	0.0002	1.715e-05	1.129e-05	2.846e-05	1.858e-05	0	0	0	0	0.0002	0	0	7.349e-05	0	0	0.349	0.12345	T	0.285	0.21343	T	0.372	0.34134	B	0.083	0.29179	B	0.009605	0.30282	N	0.349882	0.991833	0.23976	N	.	.	.	-0.01	0.62762	T	-1.67	0.39887	N	0.309	0.34874	-0.9299	0.44153	T	0.148	0.47451	T	10	0.27571225	0.45131	T	0.009384	0.24600	T	0.112	0.31546	0.594	0.72371	0.1749357433	0.17121	0.21887134088810448	0.21803	.	.	0.397155761719	0.24673	T	.	.	.	-0.346565	0.04946	T	-0.439401	0.28876	T	0.0537868254201606	0.06152	T	0.878312	0.59782	D	0.09839408	0.23207	0.17584577	0.40078	0.084497586	0.19560	0.18354107	0.41349	-3.942	0.22933	T	.	.	0.095	0.14979	B	.;.;.	.;.;.	2.281690	0.29178	18.04	0.95679221224961231	0.27536	0.91654	0.53980	D	AEFDGBI	0.447924	0.50337	N	0.0340080657684986	0.43408	2.634307	0.224138781229668	0.51191	3.303715	0.999996580645464	0.74766	0.500041	0.20204	0	0.563428	0.19063	0	0.573888	0.23631	0	0.503917	0.08554	0	.	.	6.06	6.06	0.98340	4.407000	0.59512	2.826000	0.34993	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:0.0:1.0	15.184	0.72667	798	0.45050	PLAT/LH2 domain|PLAT/LH2 domain|PLAT/LH2 domain;PLAT/LH2 domain|PLAT/LH2 domain|PLAT/LH2 domain;PLAT/LH2 domain|PLAT/LH2 domain|PLAT/LH2 domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1534.43	150	chr18	46592025	.	T	C	1534.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.262;DP=485;ExcessHet=0;FS=2.059;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.23;ReadPosRankSum=1.46;SOR=0.524	GT:AD:DP:GQ:PL	0/1:84,66:150:99:1546,0,2168	9	0	1	0
chr18	68836942	68836942	A	C	exonic	CCDC102B	.	nonsynonymous SNV	CCDC102B:NM_024781:exon2:c.A179C:p.H60P,CCDC102B:NM_001093729:exon4:c.A179C:p.H60P	.	427	1094	1	0	0	1	0.00045683	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.073	0.00628241751533	8.2e-05	0.000199681	0.0003	0	0	0.0031	0	0.0001	0	6.058e-05	0.0002329	36	154602	rs149880637	0.0001	0.0001	0.0001	0.0001	0.0029	0.0001	0.0001	0.0025	0.0024	0	0	0	0.0029	0	0.0003	3.147e-05	0.0001	0.0004	0.0001	0.0001	0.0001	9.408e-05	0.0017	6.512e-05	5.323e-05	0.0009	0.0007	0	0	6.545e-05	0	0.0017	0	0	7.354e-05	0.0005	0	0.284	0.15303	T	0.169	0.30534	T	0.033	0.20350	B	0.027	0.21085	B	0.024769	0.26205	N	0.323197	1	0.08975	N	1.555	0.39373	L	1.42	0.33189	T	-0.92	0.24676	N	0.218	0.25499	-1.0066	0.27973	T	0.024	0.10329	T	10	0.006343305	0.00143	T	0.006282	0.16493	T	0.073	0.21317	.	.	0.30921473904	0.30521	0.08864189039066304	0.08797	0.0141255948297	0.01346	0.309746384621	0.11869	T	0.005007	0.04439	T	-0.485758	0.00686	T	-0.476392	0.24830	T	0.0121526584879671	0.00194	T	0.608739	0.23025	T	0.13411316	0.31171	0.07369087	0.16041	0.13411316	0.31170	0.07369087	0.16040	-2.64	0.06998	T	.	.	0.071	0.04041	B	.;.;.;.;.;.	.;.;.;.;.;.	-0.636760	0.01474	0.091	0.19295516230967008	0.00645	0.09622	0.15337	N	AEFGBI	0.175954	0.30315	N	-1.12097346809674	0.06271	0.2882252	-1.14984194804044	0.06770	0.3270445	0.998999025891151	0.38161	0.553676	0.25195	0	0.588015	0.36545	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	4.97	-0.602	0.11051	0.408000	0.20787	-1.327000	0.05707	-0.738000	0.03683	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.5373:0.3:0.1627:0.0	4.896	0.13107	992	0.01359	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	2582.43	182	chr18	68836942	.	A	C	2582.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.25;DP=1285;ExcessHet=0;FS=1.83;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.19;ReadPosRankSum=1.01;SOR=0.881	GT:AD:DP:GQ:PL	0/1:91,91:182:99:2594,0,2293	9	0	1	0
chr19	110747	110747	-	T	exonic	OR4F17	.	frameshift insertion	OR4F17:NM_001005240:exon3:c.70dupT:p.V26Cfs*20	.	454	1047	21	0	0	21	0.00992908	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0061	0.00479233	0.0060	0.0013	0.0060	0	0.0026	0.0078	0.0033	0.0065	0.0004786	74	154602	rs560302340	0.0052	0.0082	0.0053	0.0051	0.0057	0.0051	0.0050	0.0056	0.0055	0.0006	0.0046	0.0084	5.04e-05	0.0016	0.0046	0.0057	0.0047	0.0051	0.0040	0.0060	0.0043	0.0038	0.0067	0.0038	0.0037	0.0055	0.0052	0.0008	0.0011	0.0066	0.0099	0	0.0008	0.0069	0.0057	0.0067	0.0067	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.005220	0.006849	0.004087	0.004425	0.000000	0.008929	0.007194	0.012097	0.1	1478.1	323	chr19	110747	.	G	GT	1478.1	.	AC=2;AF=0.1;AN=20;BaseQRankSum=1.13;DP=838;ExcessHet=0.2348;FS=0;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=36.59;MQRankSum=-2.939;QD=2.76;ReadPosRankSum=-0.459;SOR=0.69	GT:AD:DP:GQ:PL	0/1:277,46:323:99:458,0,7651	8	0	2	0
chr19	2251328	2251328	C	T	exonic	AMH	.	nonsynonymous SNV	AMH:NM_000479:exon5:c.C1054T:p.P352S	Persistent Mullerian duct syndrome, type I, Autosomal recessive	3	1516	3	0	0	3	0.000988468	.	.	.	1294004	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.217	0.929583967051	.	.	0	0	0	0	.	0	0	0	7.76e-05	12	154602	rs764049634	0.0009	0.0009	0.0009	0.0010	0.0011	0.0009	0.0009	0.0010	0.0010	0.0003	0.0002	0.0012	0	9.003e-05	0	0.0011	0.0011	9.303e-05	0.0007	0.0007	0.0008	0.0006	0.0013	0.0006	0.0005	0.0011	0.0010	0.0001	0	0.0002	0.0009	0	0	0.0034	0.0013	0.0005	0	0.042	0.41637	D	0.0	0.92824	D	0.058	0.22967	B	0.042	0.24114	B	0.613208	0.10846	U	0.794111	1	0.08975	N	2.485	0.72352	M	-1.64	0.82533	D	-0.8	0.22078	N	0.157	0.16308	-0.5720	0.65935	T	0.422	0.76690	T	10	0.18485287	0.33879	T	0.929584	0.99489	D	0.217	0.51112	.	.	0.743774606261	0.74147	0.20893410733524342	0.20809	2.0454015372	0.94308	0.771631240845	0.77668	T	0.313025	0.68480	T	-0.370469	0.03570	T	-0.355371	0.38588	T	0.0411444371634786	0.03898	T	0.511449	0.16356	T	0.032263376	0.03219	0.03507361	0.02690	0.032263376	0.03218	0.03507361	0.02689	-5.091	0.37812	T	.	.	0.111	0.21466	B	.	.	2.244472	0.28667	17.87	0.93440069400700387	0.23217	0.11701	0.16806	N	AEFDBCI	0.100988	0.20294	N	-0.899655074734455	0.10850	0.520583	-0.972017803758207	0.10417	0.5245016	0.999646402427622	0.41316	0.634777	0.41761	0	0.550933	0.16991	0	0.643519	0.47002	0	0.620976	0.48614	0	.	.	3.12	2.06	0.25932	2.899000	0.48378	2.268000	0.31810	0.430000	0.20916	0.096000	0.22710	0.060000	0.22018	0.078000	0.17132	0.0:0.8857:0.0:0.1143	9.464	0.37967	982	0.03397	Anti-Mullerian hormone, 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	1	0	0	0	0	0	0	0.000780	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.006098	0.05	596.43	36	chr19	2251328	.	C	T	596.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.038;DP=295;ExcessHet=0;FS=1.366;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=16.57;ReadPosRankSum=1.58;SOR=0.869	GT:AD:DP:GQ:PL	0/1:13,23:36:99:608,0,298	9	0	1	0
chr19	2421948	2421948	A	C	exonic	TMPRSS9	.	nonsynonymous SNV	TMPRSS9:NM_001385642:exon14:c.A1553C:p.K518T,TMPRSS9:NM_182973:exon14:c.A2147C:p.K716T	.	423	1092	7	0	0	7	0.00319489	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.402	0.218524965312	7.7e-05	0.000399361	0.0003	9.731e-05	0	0	0	0.0002	0.0023	0.0012	0.0002458	38	154602	rs200218981	0.0002	0.0002	0.0001	0.0002	0.0031	0.0001	0.0001	0.0020	0.0017	0.0001	0.0001	0.0002	0	0	0.0031	7.285e-05	0.0003	0.0010	0.0002	0.0002	0.0002	0.0002	0.0014	0.0001	9.694e-05	0.0007	0.0005	9.621e-05	0	0	0.0006	0	0	0.0102	0.0001	0	0.0014	0.049	0.39820	D	0.108	0.37589	T	0.934	0.52202	P	0.688	0.53700	P	0.000810	0.41658	D	0.106373	0.971937	0.38908	D	-0.045	0.04980	N	-2.51	0.89293	D	-3.79	0.71639	D	0.303	0.34228	-0.0136	0.81973	T	0.531	0.82593	D	10	0.044545382	0.03424	T	0.218525	0.87662	D	0.402	0.71558	.	.	0.832739032746	0.83115	0.6063347089036045	0.60564	0.347782444603	0.36658	0.240099936724	0.02799	T	0.238331	0.60621	T	-0.266684	0.12128	T	-0.206291	0.54050	T	0.0920588615031339	0.11460	T	0.833117	0.50161	T	0.18503538	0.39847	0.09095931	0.21359	0.18503538	0.39847	0.09095931	0.21359	-9.09	0.68273	D	.	.	0.184	0.47513	B	.;.;.;.	.;.;.;.	0.653371	0.10217	6.956	0.99612385780692692	0.74873	0.40429	0.26434	N	AEFDGBHCI	0.249309	0.36956	N	-0.379438831198932	0.26203	1.428258	-0.506838112446382	0.21966	1.19088	0.711336291501599	0.22823	0.660377	0.49826	0	0.577304	0.33150	0	0.696353	0.63694	0	0.664235	0.64389	0	.	.	4.48	3.43	0.38372	1.636000	0.36758	0.257000	0.16498	-0.054000	0.16847	0.002000	0.15269	0.000000	0.08366	0.001000	0.02609	0.8965:0.0:0.1035:0.0	8.244	0.30836	964	0.07719	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;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	1	0	0	0	0	0	0	0	0	0	0	0.003525	0.000000	0.001359	0.008772	0.000000	0.008621	0.006098	0.000000	0.05	1748.43	159	chr19	2421948	.	A	C	1748.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.324;DP=483;ExcessHet=0;FS=0.59;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11;ReadPosRankSum=-0.162;SOR=0.599	GT:AD:DP:GQ:PL	0/1:84,75:159:99:1760,0,2291	9	0	1	0
chr19	5693431	5693431	C	G	exonic	LONP1	.	nonsynonymous SNV	LONP1:NM_001276480:exon17:c.G1982C:p.G661A,LONP1:NM_004793:exon17:c.G2570C:p.G857A,LONP1:NM_001276479:exon18:c.G2378C:p.G793A	CODAS syndrome, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.564	0.376061892636	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	0.999999	0.58761	D	5.12	0.99930	H	0.26	0.59314	T	-5.83	0.89029	D	0.959	0.96871	0.300	0.87562	D	0.568	0.84336	D	10	0.98989666	0.99472	D	0.376062	0.92860	D	0.564	0.82175	0.968	0.99691	0.758281169645	0.75608	0.9572457027693523	0.95709	1.12472233803	0.78418	0.819110751152	0.84892	D	0.754472	0.93298	D	0.199201	0.73817	D	0.0483627	0.73475	D	0.998794555664062	0.95188	D	0.997259	0.98983	D	0.98734725	0.99615	0.9515408	0.98491	0.98734725	0.99615	0.9515408	0.98492	-13.437	0.91083	D	0.9046979468569508	0.95494	0.914	0.85116	P	.;.;.;.;.;.	.;.;.;.;.;.	4.658961	0.74342	26.1	0.99563198679584386	0.71892	0.98658	0.85234	D	AEFDGBHCI	0.909645	0.86654	D	0.728801224455	0.81521	7.541666	0.50740457712726	0.68486	5.226888	0.999999999999317	0.74766	0.675202	0.55065	0	0.672317	0.65289	0	0.67197	0.60751	0	0.711	0.71501	0	.	.	4.75	3.72	0.41857	7.564000	0.81307	7.552000	0.60294	0.585000	0.30472	1.000000	0.71638	1.000000	0.68203	0.157000	0.20547	0.0:0.9027:0.0:0.0973	10.389	0.43344	819	0.41190	Peptidase S16, Lon proteolytic domain|Peptidase S16, Lon proteolytic domain;Peptidase S16, Lon proteolytic domain|Peptidase S16, Lon proteolytic domain;.;.;Peptidase S16, Lon proteolytic domain|Peptidase S16, Lon proteolytic domain;Peptidase S16, Lon proteolytic domain|Peptidase S16, Lon proteolytic domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1066.43	97	chr19	5693431	.	C	G	1066.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.096;DP=429;ExcessHet=0;FS=9.939;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.99;ReadPosRankSum=0.475;SOR=0.918	GT:AD:DP:GQ:PL	0/1:58,39:97:99:1078,0,1734	9	0	1	0
chr19	5908837	5908837	C	T	exonic	VMAC	.	nonsynonymous SNV	VMAC:NM_001017921:exon2:c.C205T:p.L69F	.	.	.	.	.	.	.	.	.	.	.	2341857	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.178	0.0289067094189	.	.	1.656e-05	0	0	0	0.0003	0	0	0	1.29e-05	2	154602	rs753648226	0.0001	0.0001	0.0001	9.627e-05	0.0003	9.807e-05	9.223e-05	0.0001	0.0001	2.988e-05	0	0	0	0.0001	0.0003	0.0001	8.281e-05	1.159e-05	5.917e-05	5.91e-05	6.426e-05	5.384e-05	7.351e-05	3.079e-05	2.211e-05	2.847e-05	1.858e-05	4.829e-05	0	0	0	0	0.0002	0	7.351e-05	0	0	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.998	0.88582	D	0.000016	0.62929	D	0.000000	0.999671	0.48205	D	2.24	0.63355	M	.	.	.	-3.14	0.64019	D	0.464	0.50056	-0.1983	0.77714	T	0.393	0.74634	T	9	0.27951092	0.45524	T	0.028907	0.51509	D	0.178	0.44724	.	.	0.0401082797425	0.02173	0.4859143662543775	0.48511	1.37465409467	0.84631	0.569711744785	0.48637	T	0.137542	0.47054	T	-0.0307273	0.47311	T	-0.174257	0.57053	T	0.919108331203461	0.57766	D	0.708829	0.31953	T	0.5873185	0.72006	0.5316848	0.72939	0.5873185	0.72007	0.5316848	0.72940	-7.508	0.57667	D	.	.	0.439	0.61649	A	.	.	4.929482	0.81258	27.5	0.99856393403738708	0.93548	0.75487	0.36962	D	AEFDBHCIJ	0.143872	0.26669	N	0.373911947704189	0.60012	4.185746	0.238480443137259	0.51996	3.377652	0.999999999961395	0.74766	0.615465	0.37627	0	0.633656	0.55848	0	0.566861	0.19136	0	0.635551	0.53088	0	.	.	3.95	3.95	0.44952	3.275000	0.51342	7.602000	0.61596	0.599000	0.40250	0.992000	0.37556	1.000000	0.68203	0.799000	0.37691	0.0:1.0:0.0:0.0	11.874	0.51818	878	0.29785	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1502.43	137	chr19	5908837	.	C	T	1502.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.49;DP=455;ExcessHet=0;FS=0.633;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.97;ReadPosRankSum=-1.977;SOR=0.763	GT:AD:DP:GQ:PL	0/1:77,60:137:99:1514,0,1849	9	0	1	0
chr19	5994944	5994944	A	G	exonic	RFX2	.	nonsynonymous SNV	RFX2:NM_134433:exon17:c.T1988C:p.M663T,RFX2:NM_000635:exon18:c.T2063C:p.M688T	.	421	1100	1	0	0	1	0.000454339	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.334	0.0276815546243	.	0.000199681	4.264e-05	0	0	0	0.0002	4.668e-05	0	6.167e-05	3.88e-05	6	154602	rs546787693	4.609e-05	4.583e-05	3.835e-05	5.39e-05	0.0002	3.682e-05	3.366e-05	3.893e-05	3.493e-05	0	6.711e-05	0	0	4.32e-05	0.0002	4.949e-05	8.291e-05	1.16e-05	5.913e-05	5.907e-05	3.857e-05	8.062e-05	0.0002	3.077e-05	2.21e-05	5.282e-05	2.834e-05	2.407e-05	0	0.0002	0	0	9.427e-05	0	4.412e-05	0	0.0002	0.402	0.10412	T	0.569	0.08870	T	0.0	0.02946	B	0.0	0.01387	B	0.008195	0.30970	N	0.379586	0.993544	0.23692	N	0.205	0.09354	N	0.06	0.61923	T	0.19	0.04947	N	0.071	0.12484	-1.0503	0.14313	T	0.104	0.38193	T	10	0.056996018	0.06477	T	0.027682	0.50460	D	0.334	0.65620	0.204	0.11936	0.65606726329	0.65319	0.20949863712203226	0.20865	0.923174689541	0.71542	0.395254135132	0.24407	T	0.00986	0.08945	T	-0.168496	0.25463	T	-0.282838	0.46512	T	0.0643163546919823	0.07829	T	0.480552	0.14510	T	0.11825163	0.27864	0.09367339	0.22137	0.11825163	0.27864	0.09367339	0.22137	-2.843	0.10116	T	.	.	0.064	0.01715	B	.;.;.	.;.;.	1.115757	0.15011	11.52	0.42159892171998181	0.03089	0.94848	0.62539	D	AEFDBI	0.471184	0.51683	N	-0.605334368647334	0.18783	0.9779524	-0.482407372334839	0.22639	1.230608	0.999999998957028	0.74766	0.646311	0.45356	0	0.588066	0.40923	0	0.645312	0.48771	0	0.662433	0.64102	0	.	.	4.87	4.87	0.62877	5.037000	0.63964	4.485000	0.43549	0.756000	0.94297	0.990000	0.36992	0.290000	0.24159	0.002000	0.04165	1.0:0.0:0.0:0.0	11.889	0.51900	923	0.18507	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001010	0.000000	0.000000	0.000000	0.000000	0.000000	0.006135	0.000000	0.05	460.43	53	chr19	5994944	.	A	G	460.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.893;DP=366;ExcessHet=0;FS=3.809;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.69;ReadPosRankSum=0.164;SOR=1.23	GT:AD:DP:GQ:PL	0/1:32,21:53:99:472,0,740	9	0	1	0
chr19	6427473	6427473	C	T	exonic	SLC25A41	.	nonsynonymous SNV	SLC25A41:NM_173637:exon5:c.G653A:p.R218Q,SLC25A41:NM_001321298:exon6:c.G239A:p.R80Q	.	420	1093	9	0	0	9	0.00410023	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.154	0.0320289930778	7.7e-05	0.00119808	0.0010	0	0.0024	0	0	0.0008	0.0047	0.0022	0.0005433	84	154602	rs370967882	0.0004	0.0004	0.0003	0.0005	0.0084	0.0004	0.0004	0.0065	0.0058	0.0002	0.0006	0.0027	0.0001	0	0.0084	0.0003	0.0008	0.0010	0.0004	0.0004	0.0003	0.0004	0.0017	0.0003	0.0003	0.0008	0.0006	9.621e-05	0	0.0009	0.0020	0	0	0	0.0003	0.0014	0.0017	0.065	0.36310	T	0.01	0.65728	D	0.581	0.38837	P	0.094	0.30180	B	.	.	.	.	1	0.81001	D	0.61	0.15665	N	-1.16	0.78082	T	-1.84	0.43149	N	0.121	0.11197	-0.8827	0.49545	T	0.208	0.56771	T	9	0.0052732825	0.00115	T	0.032029	0.53962	D	0.154	0.40340	.	.	0.329282125956	0.32538	0.21025020509890177	0.20941	0.0426198176388	0.04596	0.257188558578	0.04561	T	0.055096	0.29909	T	-0.433726	0.01408	T	-0.446235	0.28112	T	0.0350473004095516	0.02815	T	0.889011	0.61998	D	0.079493165	0.18164	0.074608445	0.16339	0.079493165	0.18163	0.074608445	0.16339	-4.404	0.29612	T	.	.	0.075	0.05317	B	.	.	1.307874	0.17108	12.96	0.99471717513587254	0.66365	0.05453	0.11331	N	AEFBI	0.115421	0.22695	N	-0.659157792231801	0.17193	0.8826803	-0.730294490387425	0.16208	0.8563167	0.0271245656806612	0.13754	0.615465	0.37627	0	0.633656	0.55848	0	0.577349	0.28860	0	0.542086	0.14980	0	.	.	4.07	1.82	0.24209	1.316000	0.33226	-0.740000	0.07623	0.599000	0.40250	0.157000	0.23755	0.000000	0.08366	0.046000	0.14843	0.1761:0.6309:0.0:0.1931	4.945	0.13336	806	0.43582	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.011156	0.000000	0.016304	0.014706	0.000000	0.017241	0.003106	0.003788	0.05	1861.43	160	chr19	6427473	.	C	T	1861.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.43;DP=498;ExcessHet=0;FS=5.706;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.63;ReadPosRankSum=0.249;SOR=0.894	GT:AD:DP:GQ:PL	0/1:89,71:160:99:1873,0,2194	9	0	1	0
chr19	6755168	6755168	C	T	exonic	SH2D3A	.	nonsynonymous SNV	SH2D3A:NM_005490:exon5:c.G644A:p.R215Q	.	431	1079	12	0	0	12	0.00552995	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.114	0.0130555189363	0.0006	0.000199681	0.0006	0	0.0003	0.0001	0	0.0009	0.0023	0.0006	0.0004657	72	154602	rs139813452	0.0006	0.0006	0.0006	0.0007	0.0058	0.0006	0.0006	0.0042	0.0037	0.0003	0.0002	0.0117	0	0	0.0058	0.0004	0.0015	0.0008	0.0004	0.0004	0.0004	0.0003	0.0004	0.0003	0.0003	0.0002	0.0001	7.235e-05	0	0.0003	0.0075	0	0	0	0.0003	0.0005	0.0004	0.151	0.24564	T	0.0	0.92824	D	1.0	0.90584	D	0.95	0.68788	D	0.003790	0.34487	N	0.000000	0.622903	0.33738	D	2.515	0.73286	M	1.32	0.35219	T	-1.17	0.32387	N	0.238	0.29081	-0.5966	0.64955	T	0.200	0.55625	T	10	0.007838309	0.00178	T	0.013056	0.32163	T	0.114	0.32008	.	.	0.697679765967	0.69506	0.4191840507844904	0.41834	0.948468269422	0.72514	0.386554598808	0.23182	T	0.081848	0.36692	T	-0.307122	0.08005	T	-0.319252	0.42656	T	0.554415106773376	0.34643	D	0.829317	0.49436	T	0.104006454	0.24584	0.064677715	0.12999	0.104006454	0.24584	0.064677715	0.12998	-9.529	0.71039	D	.	.	0.102	0.17785	B	.;.	.;.	3.860392	0.55978	23.7	0.99897786711129255	0.97048	0.97645	0.76123	D	AEFDBHI	0.584879	0.58353	D	0.460673285849471	0.64810	4.744259	0.388358732190324	0.60845	4.276993	0.999999999322786	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.643519	0.47002	0	0.567892	0.33627	0	.	.	4.53	4.53	0.55009	3.683000	0.54396	1.666000	0.27927	0.524000	0.24156	1.000000	0.71638	0.998000	0.33993	0.432000	0.27494	0.0:1.0:0.0:0.0	14.758	0.69208	946	0.12043	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.006042	0.005051	0.006793	0.011696	0.000000	0.008621	0.003049	0.000000	0.05	1546.43	127	chr19	6755168	.	C	T	1546.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.39;DP=478;ExcessHet=0;FS=6.725;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.18;ReadPosRankSum=-0.512;SOR=1.109	GT:AD:DP:GQ:PL	0/1:67,60:127:99:1558,0,1606	9	0	1	0
chr19	7083311	7083311	C	T	exonic	ZNF557	.	nonsynonymous SNV	ZNF557:NM_001044387:exon8:c.C860T:p.T287M,ZNF557:NM_001044388:exon8:c.C839T:p.T280M,ZNF557:NM_024341:exon8:c.C860T:p.T287M	.	425	1095	2	0	0	2	0.000912409	.	.	.	2281275	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.138	0.00712544142379	0.0003	.	0.0003	0.0002	8.64e-05	0	0.0002	0.0005	0	0.0002	0.0001229	19	154602	rs200539541	0.0005	0.0005	0.0005	0.0005	0.0006	0.0005	0.0005	0.0006	0.0006	0.0006	4.472e-05	0	0	7.488e-05	0.0005	0.0006	0.0004	4.637e-05	0.0003	0.0003	0.0005	0.0002	0.0006	0.0003	0.0002	0.0004	0.0004	0.0002	0	0.0001	0	0	9.448e-05	0	0.0006	0	0.0004	0.047	0.47320	D	0.004	0.74150	D	1.0	0.90584	D	0.951	0.72444	D	.	.	.	.	0.998765	0.22536	N	2.745	0.80253	M	1.74	0.26301	T	-5.37	0.84882	D	0.369	0.41063	-1.0438	0.16177	T	0.137	0.45375	T	9	0.21291697	0.37767	T	0.007125	0.18869	T	0.138	0.37187	.	.	0.492952963295	0.48930	0.030227999030409007	0.02971	0.391853242021	0.40381	0.554976761341	0.46559	T	0.234898	0.60203	T	-0.344428	0.05088	T	-0.362609	0.37750	T	0.916126847267151	0.57342	D	0.50225	0.15758	T	0.11654145	0.27487	0.19018579	0.42407	0.11654145	0.27487	0.19018579	0.42407	-8.453	0.64157	D	.	.	0.245	0.49645	B	.;.	.;.	3.100588	0.41782	21.4	0.99546344161697653	0.70836	0.00006	0.00120	N	AEFDGBHCI	0.063469	0.12268	N	0.0124829018256928	0.42423	2.555737	-0.246635620373899	0.29887	1.678151	0.915431190843468	0.26483	0.250623	0.04238	3	0.552637	0.17590	0	0.465395	0.07113	1	0.549297	0.17558	0	.	.	1.32	1.32	0.20897	2.373000	0.43920	0.345000	0.17419	-0.696000	0.04083	0.974000	0.34632	0.001000	0.17328	0.049000	0.15107	0.0:1.0:0.0:0.0	8.549	0.32598	946	0.12043	.;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	.	.	.	.	.	.	.	.	0.05	2387.43	166	chr19	7083311	.	C	T	2387.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=3.06;DP=481;ExcessHet=0;FS=4.483;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.38;ReadPosRankSum=0.297;SOR=0.585	GT:AD:DP:GQ:PL	0/1:81,85:166:99:2399,0,1935	9	0	1	0
chr19	7899883	7899883	C	G	exonic	LRRC8E	.	nonsynonymous SNV	LRRC8E:NM_001268285:exon2:c.C974G:p.P325R,LRRC8E:NM_025061:exon3:c.C1361G:p.P454R,LRRC8E:NM_001268284:exon4:c.C1361G:p.P454R	.	399	1118	5	0	0	5	0.00223115	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.097	0.019314781932	0.0025	0.000998403	0.0024	0.0008	0.0017	0	0.0041	0.0033	0.0023	0.0007	0.0023803	368	154602	rs146365216	0.0037	0.0037	0.0037	0.0036	0.0042	0.0036	0.0036	0.0041	0.0041	0.0006	0.0017	0.0047	0	0.0029	0.0016	0.0042	0.0034	0.0009	0.0024	0.0024	0.0026	0.0022	0.0037	0.0022	0.0021	0.0033	0.0032	0.0006	0	0.0022	0.0020	0	0.0036	0	0.0037	0.0024	0.0006	0.105	0.29823	T	0.029	0.54541	D	0.904	0.49848	P	0.451	0.46123	P	0.000002	0.62929	D	0.059184	0.99639	0.43179	D	1.15	0.29295	L	2.2	0.18570	T	-1.31	0.32791	N	0.347	0.40264	-1.1371	0.01470	T	0.054	0.22846	T	10	0.009659946	0.00217	T	0.019315	0.41651	T	0.097	0.27909	.	.	0.883975914383	0.88284	0.5380779568896664	0.53732	0.924933325198	0.71604	0.49977940321	0.38797	T	0.004615	0.04018	T	-0.444796	0.01212	T	-0.414117	0.31751	T	0.00709060371173374	0.00081	T	0.758424	0.38228	T	0.20297141	0.42359	0.16559795	0.38301	0.20297141	0.42359	0.16559795	0.38300	-6.193	0.47866	T	.	.	0.234	0.47404	B	.;.	.;.	3.308599	0.45448	22.1	0.99652609866015096	0.77380	0.95551	0.65172	D	AEFDBCI	0.829514	0.74840	D	0.353465002440647	0.58923	4.06764	0.38243287015595	0.60481	4.236286	0.999999650394081	0.74766	0.646311	0.45356	0	0.588066	0.40923	0	0.645312	0.48771	0	0.567892	0.33627	0	.	.	4.64	4.64	0.57399	6.062000	0.70788	4.825000	0.45150	0.596000	0.33519	1.000000	0.71638	1.000000	0.68203	0.922000	0.45779	0.0:1.0:0.0:0.0	15.043	0.71471	878	0.29785	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001511	0.010101	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.05	1103.43	83	chr19	7899883	.	C	G	1103.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.26;DP=445;ExcessHet=0;FS=0.824;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.29;ReadPosRankSum=-1.141;SOR=0.805	GT:AD:DP:GQ:PL	0/1:39,44:83:99:1115,0,1027	9	0	1	0
chr19	8094545	8094545	G	A	exonic	FBN3	.	nonsynonymous SNV	FBN3:NM_001321431:exon47:c.C5806T:p.L1936F,FBN3:NM_032447:exon47:c.C5806T:p.L1936F	.	407	1114	1	0	0	1	0.000448632	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.131	0.0412036112534	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.842e-07	1.368e-06	1.362e-06	0	.	0	0	.	.	0	0	0	0	0	0	0	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.714	0.03996	T	0.385	0.15746	T	0.046	0.21875	B	0.066	0.27432	B	0.005131	0.33071	N	0.253757	0.996104	0.43019	D	0.345	0.11182	N	-2.99	0.92108	D	-1.11	0.28703	N	0.117	0.12341	-0.5277	0.67628	T	0.505	0.81368	D	10	0.058603406	0.06915	T	0.041204	0.59800	D	0.131	0.35738	0.474	0.55020	0.56468994859	0.56133	0.48926036958206537	0.48846	0.282033691063	0.30668	0.295805752277	0.09777	T	0.097982	0.40135	T	-0.0287404	0.47599	T	-0.27906	0.46901	T	0.133787676692009	0.15728	T	0.161184	0.01454	T	0.043630704	0.06835	0.044588026	0.05809	0.043630704	0.06834	0.044588026	0.05809	-8.437	0.64010	D	.	.	0.070	0.03407	B	.;.;.	.;.;.	1.017488	0.13970	10.53	0.56148507846704143	0.05490	0.20652	0.21119	N	AEFBI	0.094381	0.19083	N	-0.799212729628742	0.13330	0.6559477	-0.745521817087744	0.15832	0.8346343	2.10565451128842E-5	0.02871	0.719381	0.83141	0	0.573888	0.26702	0	0.723133	0.82415	0	0.613276	0.41899	0	.	.	4.82	0.922	0.18534	0.509000	0.22414	.	.	-0.113000	0.14837	0.018000	0.19461	0.014000	0.20376	0.642000	0.32476	0.1682:0.1302:0.7016:0.0	8.594	0.32869	768	0.49510	EGF-like calcium-binding domain|EGF-like domain|EGF-like calcium-binding domain|EGF-like domain;EGF-like calcium-binding domain|EGF-like domain|EGF-like calcium-binding domain|EGF-like domain;EGF-like calcium-binding domain|EGF-like domain|EGF-like calcium-binding domain|EGF-like domain	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	893.43	69	chr19	8094545	.	G	A	893.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.67;DP=428;ExcessHet=0;FS=3.26;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.95;ReadPosRankSum=1.24;SOR=0.951	GT:AD:DP:GQ:PL	0/1:36,33:69:99:905,0,935	9	0	1	0
chr19	8886853	8886853	-	A	exonic	MUC16	.	frameshift insertion	MUC16:NM_024690:exon59:c.40892_40893insT:p.L13633Sfs*17	.	428	1083	11	0	0	11	0.00505282	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1242170661	1.374e-06	0.0005	1.367e-06	1.38e-06	3.011e-05	2.3e-07	9e-08	.	.	3.011e-05	0	0	0	0	0	9.019e-07	0	0	4.022e-05	0.0074	2.622e-05	5.485e-05	0.0001	1.744e-05	1.148e-05	2.302e-05	9.22e-06	4.903e-05	0	0.0001	0	0	9.593e-05	0	0	0.0005	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	257.39	194	chr19	8886853	.	G	GA	257.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=5.08;DP=1827;ExcessHet=0;FS=31.811;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=58.56;MQRankSum=-12.69;QD=1.33;ReadPosRankSum=-0.024;SOR=6.306	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:175,19:194:99:0|1:8886846_G_A:269,0,7287:8886846	9	0	1	0
chr19	8886858	8886858	C	-	exonic	MUC16	.	frameshift deletion	MUC16:NM_024690:exon59:c.40888delG:p.A13630Pfs*60	.	428	1072	8	0	14	22	0.00371747	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1359563111	2.072e-06	0.0006	2.749e-06	1.389e-06	3.052e-05	5.5e-07	1.5e-07	.	.	3.052e-05	0	0	0	0	0	9.056e-07	1.679e-05	0	8.314e-05	0.0078	5.418e-05	0.0001	0.0002	4.725e-05	3.692e-05	5.578e-05	2.916e-05	5.081e-05	0	0.0002	0	0	0.0003	0	3.101e-05	0.0005	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	241.39	185	chr19	8886857	.	GC	G	241.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=3.07;DP=1611;ExcessHet=0;FS=28.816;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=58.65;MQRankSum=-13.19;QD=1.3;ReadPosRankSum=-0.416;SOR=6.086	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:167,18:185:99:0|1:8886846_G_A:253,0,6958:8886846	9	0	1	0
chr19	8888803	8888803	G	A	exonic	MUC16	.	stopgain	MUC16:NM_024690:exon56:c.C40696T:p.Q13566X	.	387	1065	65	0	5	70	0.0296128	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1	1666.14	467	chr19	8888803	.	G	A	1666.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-0.64;DP=4501;ExcessHet=0.2348;FS=0.824;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=57.71;MQRankSum=-9.691;QD=1.65;ReadPosRankSum=1.46;SOR=0.569	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:394,73:467:99:0|1:8888803_G_A:1630,0,15457:8888803	8	0	2	0
chr19	8888822	8888826	GCTTT	0	exonic	MUC16	.	.	.	.	412	698	370	1	41	413	0.210407	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	11246.2	434	chr19	8888822	.	GCTTT	*	11246.2	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.98;DP=4397;ExcessHet=22.563;FS=10.155;InbreedingCoeff=-1;MLEAC=1;MLEAF=0.05;MQ=57.39;MQRankSum=-11.2;QD=2.91;ReadPosRankSum=0.825;SOR=1.313	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:279,92:434:99:0|1:8888803_G_A:2457,0,11397:8888803	9	0	1	0
chr19	8902124	8902124	T	C	exonic	MUC16	.	nonsynonymous SNV	MUC16:NM_024690:exon34:c.A38644G:p.T12882A	.	429	1088	5	0	0	5	0.00229253	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.020	0.00130802677798	.	.	0.0011	0.0015	0.0007	0.0003	0.0015	0.0009	0.0011	0.0023	3.84e-05	1	26028	rs748307682	1.372e-06	0.0001	2.729e-06	0	1.802e-06	2.3e-07	9e-08	3e-07	1.1e-07	0	0	0	0	0	0	1.802e-06	0	0	2.018e-05	0.0003	1.314e-05	2.756e-05	0.0002	5.36e-06	2.49e-06	8.23e-06	3.08e-06	4.967e-05	0	0	0	0	0	0	0	0	0.0002	0.039	0.42487	D	0.02	0.58613	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.64	0.27822	T	-1.48	0.36189	N	0.127	0.12055	-1.0275	0.21266	T	0.037	0.15899	T	8	0.02569434	0.00756	T	0.001308	0.01834	T	0.020	0.03691	0.561	0.68093	0.0716867268079	0.06686	0.22195393186857817	0.22110	.	.	0.272835761309	0.06513	T	.	.	.	-0.349911	0.04733	T	-0.740399	0.03874	T	0.04631998853856	0.04842	T	0.285271	0.05070	T	.	.	.	.	.	.	.	.	-8.103	0.61771	D	.	.	0.092	0.13690	B	.	.	-0.298037	0.02627	0.330	0.85565914628400708	0.15973	0.00334	0.01740	N	AEFBI	0.020162	0.00768	N	-1.33487180102627	0.03285	0.1464488	-1.45727964619671	0.02705	0.1248931	1.7085068416542E-5	0.02871	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.613276	0.41899	0	.	.	1.92	-1.95	0.07135	-4.214000	0.00310	.	.	0.587000	0.30956	0.000000	0.06391	0.000000	0.08366	0.033000	0.13494	0.259:0.3885:0.0:0.3525	2.267	0.03831	934	0.15400	SEA domain|SEA domain|SEA domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	62.43	197	chr19	8902124	.	T	C	62.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.51;DP=1913;ExcessHet=0;FS=26.82;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=58.08;MQRankSum=-12.34;QD=0.32;ReadPosRankSum=1.16;SOR=3.478	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:179,18:197:74:0|1:8902115_G_T:74,0,7363:8902115	9	0	1	0
chr19	8902135	8902135	C	T	exonic	MUC16	.	nonsynonymous SNV	MUC16:NM_024690:exon34:c.G38633A:p.R12878K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.034	0.00223406049432	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1375895040	7.526e-06	7.524e-06	2.723e-06	1.238e-05	0.0002	4.04e-06	2.95e-06	1.94e-06	1.28e-06	0	2.236e-05	0	0	0	0.0002	5.397e-06	4.969e-05	0	6.564e-06	6.561e-06	1.284e-05	0	.	0	0	.	.	0	0	0	0	0	0	0.0034	0	0	0	0.606	0.05534	T	0.031	0.53788	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.59	0.28836	T	-0.22	0.10480	N	0.11	0.09631	-0.9515	0.40712	T	0.064	0.26632	T	8	0.068083465	0.09580	T	0.002234	0.04233	T	0.034	0.08419	0.42	0.46200	0.0986583533028	0.09354	0.258637075761594	0.25777	.	.	0.215941622853	0.01088	T	.	.	.	-0.375955	0.03303	T	-0.714164	0.05083	T	0.0922640338540077	0.11483	T	0.121688	0.00942	T	.	.	.	.	.	.	.	.	-8.931	0.67252	D	.	.	0.113	0.22464	B	.	.	-0.545122	0.01728	0.128	0.53621158834514715	0.04975	0.00221	0.01247	N	AEFBI	0.030353	0.03037	N	-1.3032011885107	0.03639	0.1628907	-1.51130414800331	0.02257	0.1035132	1.0174086819561E-4	0.05123	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.613276	0.41899	0	.	.	1.92	-3.84	0.03976	-7.875000	0.00036	.	.	0.530000	0.24713	0.000000	0.06391	0.000000	0.08366	0.005000	0.06747	0.1977:0.2581:0.3923:0.152	1.480	0.02288	934	0.15400	SEA domain|SEA domain|SEA domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	2032.43	214	chr19	8902135	.	C	T	2032.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.22;DP=1933;ExcessHet=0;FS=10.326;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=57.56;MQRankSum=4.89;QD=9.5;ReadPosRankSum=0.488;SOR=0.613	GT:AD:DP:GQ:PL	0/1:132,82:214:99:2044,0,4006	9	0	1	0
chr19	9758008	9758008	C	G	exonic	ZNF846	.	nonsynonymous SNV	ZNF846:NM_001353798:exon5:c.G682C:p.V228L,ZNF846:NM_001077624:exon6:c.G1069C:p.V357L,ZNF846:NM_001353799:exon6:c.G1066C:p.V356L	.	403	1116	3	0	0	3	0.00134228	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.017	0.000684223319064	0.0009	0.00119808	0.0003	0.0033	8.661e-05	0	0	0.0001	0	0	0.0003363	52	154602	rs139394148	0.0002	0.0002	0.0002	0.0002	0.0044	0.0002	0.0002	0.0038	0.0036	0.0044	0.0002	0	0	0	0.0029	7.194e-05	0.0006	2.319e-05	0.0011	0.0011	0.0011	0.0010	0.0036	0.0009	0.0009	0.0032	0.0030	0.0036	0	0.0001	0	0	0	0	0.0001	0.0010	0	0.24	0.17701	T	0.112	0.37037	T	0.001	0.07471	B	0.001	0.04355	B	.	.	.	.	1	0.08975	N	-1.275	0.00739	N	2.46	0.14907	T	-0.57	0.17210	N	0.03	0.00717	-0.9797	0.35071	T	0.007	0.02321	T	8	0.0042680204	0.00085	T	6.84E-4	0.00400	T	0.017	0.02790	0.398	0.42590	0.148003135375	0.14442	0.01252868058920087	0.01211	0.0113269033365	0.01058	0.240777403116	0.02861	T	0.002564	0.01954	T	-0.753927	0.00017	T	-0.855885	0.00888	T	0.0128012063783363	0.00218	T	0.714629	0.32694	T	0.05465445	0.10516	0.05546819	0.09736	0.05465445	0.10516	0.05546819	0.09736	-4.459	0.30348	T	.	.	0.129	0.27702	B	.	.	-0.269736	0.02752	0.369	0.86483364896799642	0.16566	0.00018	0.00208	N	AEFBHCI	0.049982	0.08690	N	-1.58284560719604	0.01352	0.05893196	-1.5915029531941	0.01707	0.07756527	0.00676574419427502	0.11302	0.615465	0.37627	0	0.588015	0.36545	0	0.463624	0.06942	0	0.655142	0.61905	0	.	.	2.01	-4.02	0.03764	-1.461000	0.02472	.	.	-0.318000	0.05900	0.000000	0.06391	0.000000	0.08366	0.989000	0.64315	0.1567:0.2111:0.1553:0.4768	1.371	0.02079	906	0.23090	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	0.006546	0.000000	0.019022	0.005848	0.000000	0.000000	0.000000	0.000000	0.05	1230.43	101	chr19	9758008	.	C	G	1230.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.81;DP=439;ExcessHet=0;FS=3.711;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.18;ReadPosRankSum=0.422;SOR=0.973	GT:AD:DP:GQ:PL	0/1:54,47:101:99:1242,0,1346	9	0	1	0
chr19	9758284	9758284	G	T	exonic	ZNF846	.	nonsynonymous SNV	ZNF846:NM_001353798:exon5:c.C406A:p.Q136K,ZNF846:NM_001077624:exon6:c.C793A:p.Q265K,ZNF846:NM_001353799:exon6:c.C790A:p.Q264K,ZNF846:NM_001353800:exon6:c.C790A:p.Q264K	.	405	1114	3	0	0	3	0.00134469	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	0.00097886745271	0.0009	0.00119808	0.0003	0.0033	8.651e-05	0	0	0.0001	0	0	0.0003363	52	154602	rs182871540	0.0002	0.0002	0.0002	0.0002	0.0044	0.0002	0.0002	0.0038	0.0036	0.0044	0.0002	0	0	0	0.0029	7.194e-05	0.0006	2.319e-05	0.0010	0.0011	0.0011	0.0010	0.0035	0.0009	0.0008	0.0031	0.0029	0.0035	0	0.0001	0	0	0	0	0.0001	0.0010	0	0.454	0.08891	T	0.124	0.35455	T	0.023	0.18885	B	0.017	0.18140	B	.	.	.	.	1	0.08975	N	0.565	0.15224	N	2.26	0.17596	T	-0.33	0.12472	N	0.092	0.07125	-0.9341	0.43530	T	0.010	0.03582	T	8	0.006107986	0.00137	T	9.79E-4	0.01026	T	0.011	0.01250	.	.	0.117506650769	0.11410	0.014851344574885825	0.01442	0.0148240308815	0.01408	0.304430782795	0.11065	T	0.001032	0.00564	T	-0.745748	0.00019	T	-0.844136	0.01038	T	0.0150262008645624	0.00323	T	0.29517	0.10821	T	0.041941877	0.06271	0.04298797	0.05245	0.041941877	0.06271	0.04298797	0.05244	-6.171	0.47687	T	.	.	0.626	0.69954	P	.;.;.	.;.;.	0.187358	0.05738	2.184	0.72009358512007882	0.09824	0.00006	0.00120	N	AEFDGBHCI	0.033337	0.03933	N	-1.43370730371528	0.02348	0.103581	-1.56290727170255	0.01888	0.08610339	0.00418278900172782	0.10449	0.553676	0.25195	0	0.588015	0.36545	0	0.463624	0.06942	0	0.567892	0.33627	0	.	.	1.18	-2.02	0.06981	-5.735000	0.00122	.	.	0.557000	0.28285	0.000000	0.06391	0.000000	0.08366	0.816000	0.38450	0.0:0.2443:0.5079:0.2478	4.437	0.10978	906	0.23090	.;.;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	0.006546	0.000000	0.019022	0.005848	0.000000	0.000000	0.000000	0.000000	0.05	1011.43	84	chr19	9758284	.	G	T	1011.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.347;DP=422;ExcessHet=0;FS=2.923;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.04;ReadPosRankSum=0.068;SOR=0.513	GT:AD:DP:GQ:PL	0/1:47,37:84:99:1023,0,1425	9	0	1	0
chr19	9997385	9997385	C	T	exonic	COL5A3	.	nonsynonymous SNV	COL5A3:NM_015719:exon11:c.G1249A:p.D417N	.	287	1229	6	0	0	6	0.00243506	.	.	.	3306128	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.537	0.241052484757	.	0.000399361	0.0005	0.0001	0	0	0	0.0006	0.0017	0.0008	0.0002975	46	154602	rs140286940	0.0003	0.0003	0.0002	0.0003	0.0016	0.0002	0.0002	0.0010	0.0009	0	0.0002	0.0048	0	1.885e-05	0.0016	8.286e-05	0.0007	0.0012	0.0002	0.0002	0.0002	0.0002	0.0015	0.0002	0.0001	0.0007	0.0005	2.408e-05	0	0.0001	0.0032	0	0	0	0.0001	0.0005	0.0015	0.045	0.40832	D	0.102	0.38450	T	1.0	0.90584	D	0.999	0.92359	D	0.000001	0.84330	U	0.000000	0.999972	0.53665	D	1.695	0.43389	L	-3.19	0.93170	D	-4.25	0.76094	D	0.602	0.62018	0.703	0.93214	D	0.848	0.94912	D	10	0.1428481	0.27128	T	0.241052	0.88700	D	0.537	0.80605	.	.	0.87749050222	0.87629	0.09848756033537757	0.09779	0.100806566589	0.11392	0.560047864914	0.47274	T	0.323454	0.69437	T	-0.223128	0.17567	T	-0.16076	0.58284	T	0.143126945182441	0.16541	T	0.929607	0.73996	D	0.3709836	0.58658	0.28299966	0.54290	0.3709836	0.58658	0.28299966	0.54289	-4.981	0.36633	T	.	.	0.137	0.29833	B	.	.	4.149754	0.62235	24.4	0.99748158069957049	0.84077	0.98247	0.80904	D	AEFBI	0.724680	0.67390	D	0.362095756556885	0.59380	4.11706	0.258086803487973	0.53111	3.481694	0.999932263388699	0.46732	0.57788	0.32782	0	0.593476	0.48661	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	4.14	4.14	0.47821	5.632000	0.67493	.	.	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.184000	0.21420	0.0:1.0:0.0:0.0	12.283	0.54095	926	0.17793	.	.	.	.	.	.	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	0.002020	0.000000	0.000000	0.002941	0.000000	0.000000	0.009202	0.000000	0.05	1147.43	87	chr19	9997385	.	C	T	1147.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.32;DP=406;ExcessHet=0;FS=1.743;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.19;ReadPosRankSum=-0.824;SOR=0.578	GT:AD:DP:GQ:PL	0/1:42,45:87:99:1159,0,939	9	0	1	0
chr19	10417810	10417810	A	G	exonic	PDE4A	.	nonsynonymous SNV	PDE4A:NM_001243121:exon3:c.A199G:p.T67A	.	418	1101	3	0	0	3	0.00136054	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.071	0.0393971841346	.	.	9.572e-05	0	0	0	0	0	0	0.0002	3.84e-05	1	26028	rs762249549	2.995e-05	2.873e-05	1.695e-05	4.322e-05	0.0005	2.243e-05	1.989e-05	0.0002	0.0001	0	0	0	0	0	0.0005	1.284e-05	8.525e-05	0.0002	2.631e-05	2.626e-05	5.148e-05	0	0.0004	8.15e-06	5.15e-06	7.31e-05	3.036e-05	0	0	0	0	0	0	0.0034	1.472e-05	0	0.0004	.	.	.	0.518	0.10536	T	.	.	.	.	.	.	.	.	.	.	0.997838	0.22484	N	.	.	.	-0.32	0.68181	T	.	.	.	0.304	0.34336	-1.0135	0.25816	T	0.099	0.36983	T	6	0.0982925	0.17760	T	0.039397	0.58785	D	.	.	.	.	0.134007934775	0.12933	.	.	.	.	.	.	.	.	.	.	-0.34408	0.05110	T	-0.431699	0.29742	T	0.0503598702691813	0.05564	T	0.488651	0.14976	T	.	.	.	.	.	.	.	.	-3.086	0.11136	T	.	.	0.124	0.26138	B	.	.	1.820715	0.23134	15.90	0.6344079258611699	0.07224	0.83864	0.42957	D	AEFDBHCI	0.234164	0.35696	N	-0.385022190274682	0.26002	1.415791	-0.388494587779634	0.25339	1.392872	0.999997767040046	0.74766	0.676563	0.55306	0	0.958517	0.99986	0	0.503968	0.08637	0	0.63947	0.58350	0	.	.	3.96	2.95	0.33285	2.972000	0.48948	4.781000	0.44836	-0.051000	0.17024	1.000000	0.71638	0.966000	0.29516	0.526000	0.29613	0.8839:0.0:0.1161:0.0	6.280	0.20213	764	0.49969	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	600.43	64	chr19	10417810	.	A	G	600.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.48;DP=378;ExcessHet=0;FS=5.068;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.38;ReadPosRankSum=-0.492;SOR=0.574	GT:AD:DP:GQ:PL	0/1:38,26:64:99:612,0,904	9	0	1	0
chr19	10552121	10552121	G	C	exonic	ATG4D	.	nonsynonymous SNV	ATG4D:NM_001281504:exon8:c.G933C:p.E311D,ATG4D:NM_032885:exon8:c.G1122C:p.E374D	.	426	1076	20	0	0	20	0.0092081	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.202	.	0.0002	0.000599042	0.0007	0	0.0003	0	0	0.0003	0.0022	0.0033	0.0005563	86	154602	rs141346756	0.0003	0.0003	0.0002	0.0005	0.0040	0.0003	0.0003	0.0033	0.0032	0	0.0002	0.0001	0	0	0.0040	0.0001	0.0005	0.0037	0.0002	0.0002	0.0001	0.0003	0.0031	0.0002	0.0001	0.0019	0.0015	0	0	0	0.0003	0	0	0	0.0002	0.0005	0.0031	0.025	0.47320	D	0.118	0.59159	T	0.392	0.34646	B	0.261	0.39516	B	0.000000	0.84330	D	0.000000	0.999999	0.58761	D	1.465	0.36909	L	0.99	0.41750	T	-1.99	0.45949	N	0.553	0.57860	-1.0952	0.04723	T	0.084	0.32843	T	10	0.016469032	0.00347	T	0.023869	0.46847	T	0.202	0.48754	0.542	0.65446	0.458101713262	0.45433	0.403865083192334	0.40302	0.981003695399	0.73741	0.661559700966	0.61633	T	0.061153	0.31577	T	-0.405011	0.02146	T	-0.356336	0.38476	T	0.0440389193697354	0.04428	T	0.925307	0.72522	D	0.5230501	0.68434	0.35204622	0.60789	0.5230501	0.68435	0.35204622	0.60788	-7.826	0.59879	D	.	.	0.305	0.54616	B	.;.;.	.;.;.	4.653263	0.74205	26.1	0.99712663118766443	0.81423	0.95848	0.66412	D	AEFDGBHCI	0.951781	0.96665	D	-0.15424566245146	0.35055	2.008676	-0.0828658949234684	0.36099	2.096491	0.999999999811327	0.74766	0.712529	0.81865	0	0.697927	0.68747	0	0.635938	0.45252	0	0.711	0.71501	0	.	.	5.17	4.12	0.47504	7.096000	0.76614	8.309000	0.76944	0.590000	0.31872	1.000000	0.71638	1.000000	0.68203	0.802000	0.37819	0.0:0.0:0.8489:0.1511	14.217	0.65341	735	0.53711	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002014	0.000000	0.002717	0.000000	0.050000	0.000000	0.000000	0.003788	0.05	1449.43	105	chr19	10552121	.	G	C	1449.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.31;DP=435;ExcessHet=0;FS=1.606;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.8;ReadPosRankSum=-0.487;SOR=0.898	GT:AD:DP:GQ:PL	0/1:47,58:105:99:1461,0,1064	9	0	1	0
chr19	11405406	11405406	G	C	exonic	RGL3	.	nonsynonymous SNV	RGL3:NM_001035223:exon8:c.C1017G:p.N339K,RGL3:NM_001161616:exon8:c.C1017G:p.N339K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1667	167.94	69	chr19	11405406	.	G	C	167.94	.	AC=2;AF=0.167;AN=12;BaseQRankSum=1.82;DP=544;ExcessHet=0.2348;FS=40.504;InbreedingCoeff=-0.2501;MLEAC=3;MLEAF=0.25;MQ=60;MQRankSum=0;QD=1.53;ReadPosRankSum=1;SOR=5.642	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:55,12:69:99:.:.:145,0,1410:.	4	0	2	4
chr19	11904902	11904902	C	-	exonic	ZNF69	.	frameshift deletion	ZNF69:NM_001364730:exon4:c.505delC:p.P169Lfs*44,ZNF69:NM_001364731:exon4:c.463delC:p.P155Lfs*44	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	5107.39	346	chr19	11904901	.	AC	A	5107.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.348;DP=672;ExcessHet=0;FS=4.101;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=59.92;MQRankSum=-1.036;QD=14.76;ReadPosRankSum=-0.973;SOR=0.516	GT:AD:DP:GQ:PL	0/1:180,166:346:99:5119,0,5673	9	0	1	0
chr19	15440453	15440453	G	A	exonic	WIZ	.	nonsynonymous SNV	WIZ:NM_001371589:exon4:c.C541T:p.R181C	.	616	905	1	0	0	1	0.000552181	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.010	0.00597420066654	.	.	.	.	.	.	.	.	.	.	.	.	.	rs891524314	1.301e-05	1.231e-05	1.569e-05	1.025e-05	0.0002	8.13e-06	6.71e-06	1.678e-05	9.94e-06	0	0	3.971e-05	0	0	0.0002	9.269e-06	3.454e-05	5.048e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.707913	0.10038	N	0.826016	1	0.08975	N	.	.	.	.	.	.	.	.	.	.	.	-0.9218	0.45307	T	0.010	0.03582	T	7	0.11376575	0.21383	T	0.005974	0.15579	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.528347	0.17454	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.092	0.13644	B	.	.	2.174325	0.27707	17.55	0.98882872628573015	0.47859	0.01343	0.04616	N	AEFDBI	0.089041	0.18049	N	-0.565746638321631	0.19992	1.05066	-0.67171260657054	0.17670	0.9405706	4.91132086973205E-5	0.03989	0.554377	0.28877	0	0.588066	0.40923	0	0.576033	0.28219	0	0.604944	0.38103	0	.	.	5.23	2.84	0.32241	0.794000	0.26619	.	.	-0.722000	0.03793	0.033000	0.20612	1.000000	0.68203	0.002000	0.04165	0.1008:0.0:0.656:0.2432	5.451	0.15863	653	0.62661	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.125	35.2	2	chr19	15440453	.	G	A	35.2	.	AC=2;AF=0.125;AN=16;DP=18;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.063;MQ=60;QD=17.6;SOR=0.693	GT:AD:DP:GQ:PL	1/1:0,2:2:6:49,6,0	7	1	0	2
chr19	15647244	15647244	C	T	exonic	CYP4F3	.	nonsynonymous SNV	CYP4F3:NM_001369696:exon4:c.C445T:p.R149W,CYP4F3:NM_000896:exon5:c.C445T:p.R149W,CYP4F3:NM_001199208:exon5:c.C445T:p.R149W,CYP4F3:NM_001199209:exon5:c.C445T:p.R149W	.	389	1132	1	0	0	1	0.000441501	.	.	.	3654908	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.765	0.249841670851	7.7e-05	0.000199681	4.118e-05	9.61e-05	8.637e-05	0	0	4.495e-05	0	0	3.88e-05	6	154602	rs143175634	5.199e-05	5.199e-05	4.356e-05	6.05e-05	0.0002	4.258e-05	3.888e-05	4.358e-05	3.657e-05	0.0001	0.0001	0	7.557e-05	0	0.0002	5.126e-05	8.279e-05	1.159e-05	4.595e-05	4.593e-05	7.708e-05	1.342e-05	9.621e-05	2.107e-05	1.526e-05	3.242e-05	1.91e-05	9.621e-05	0	0	0	0	0	0	4.41e-05	0	0	0.0	0.91255	D	0.014	0.62352	D	0.738	0.42905	P	0.431	0.45421	B	0.000007	0.62929	U	0.000000	0.999999	0.58761	D	4.295	0.98240	H	-1.56	0.81815	D	-6.31	0.90812	D	0.628	0.65074	0.413	0.89291	D	0.615	0.86389	D	10	0.91011107	0.90375	D	0.249842	0.89067	D	0.765	0.92046	.	.	0.842280437902	0.84077	0.6855717677047924	0.68497	0.124666510737	0.14042	0.383934378624	0.22813	T	0.321105	0.69224	T	0.139261	0.68255	D	0.231562	0.84744	D	0.965765714645386	0.67369	D	0.989101	0.96368	D	0.9029198	0.91646	0.8651175	0.92530	0.9029198	0.91647	0.8651175	0.92530	-8.026	0.61410	D	.	.	0.213	0.45396	B	.;.;.;.	.;.;.;.	3.455510	0.48139	22.6	0.99783081970925225	0.86955	0.82287	0.41537	D	AEFDBI	0.752785	0.69318	D	0.300295036542769	0.56165	3.780779	0.225430976094757	0.51261	3.310321	0.458522545423958	0.20603	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.4	3.4	0.38031	2.348000	0.43701	.	.	0.549000	0.26987	0.400000	0.26170	0.002000	0.18203	0.986000	0.61781	0.0:1.0:0.0:0.0	12.305	0.54216	929	0.16858	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	2172.43	168	chr19	15647244	.	C	T	2172.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.58;DP=522;ExcessHet=0;FS=2.71;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=59.87;MQRankSum=0.478;QD=12.93;ReadPosRankSum=0.512;SOR=0.508	GT:AD:DP:GQ:PL	0/1:90,78:168:99:2184,0,2432	9	0	1	0
chr19	17286458	17286458	G	A	exonic	ANKLE1	.	nonsynonymous SNV	ANKLE1:NM_001278444:exon8:c.G1537A:p.A513T,ANKLE1:NM_001278443:exon9:c.G1643A:p.R548H,ANKLE1:NM_001278445:exon9:c.G1634A:p.R545H,ANKLE1:NM_152363:exon9:c.G1754A:p.R585H	.	.	.	.	.	.	.	.	.	.	.	2204288	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.107	0.017292828929	.	.	.	.	.	.	.	.	.	.	.	.	.	rs761566717	8.22e-06	8.893e-06	9.54e-06	6.886e-06	5.974e-05	4.38e-06	3.46e-06	9.89e-06	4.57e-06	5.974e-05	4.481e-05	0	0	0	0	3.599e-06	1.658e-05	3.487e-05	3.942e-05	3.94e-05	2.57e-05	5.379e-05	0.0002	1.715e-05	1.129e-05	1.918e-05	1.032e-05	7.235e-05	0	0	0	0	0	0	2.94e-05	0	0.0002	.	.	.	0.134	0.34241	T	.	.	.	.	.	.	0.006450	0.32025	N	0.305630	0.551371	0.81001	D	.	.	.	.	.	.	.	.	.	0.164	0.29429	-0.2184	0.77193	T	0.408	0.75706	T	10	0.24126422	0.41301	T	0.017293	0.38928	T	0.261	0.57352	.	.	0.479056812784	0.47537	0.28460258157871304	0.28373	0.719982598912	0.62158	0.566581487656	0.48195	T	.	.	.	-0.0475657	0.44818	T	-0.223236	0.52423	T	0.951850295066833	0.63654	D	0.864214	0.56114	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.106	0.19760	B	.;.	.;.	5.168871	0.86628	29.0	0.99954334554824342	0.99963	0.89786	0.50478	D	AEFDGBI	0.250428	0.37048	N	0.566366763725946	0.71084	5.598	0.57412097816838	0.73091	5.913953	0.967492108602789	0.28981	0.615465	0.37627	0	0.653731	0.59785	0	0.658983	0.55881	0	0.567892	0.33627	0	.	.	5.42	5.42	0.78666	5.413000	0.66140	5.694000	0.49349	0.614000	0.49286	1.000000	0.71638	1.000000	0.68203	0.826000	0.38927	0.0:0.0:0.8235:0.1764	11.737	0.51036	846	0.36215	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1687.43	129	chr19	17286458	.	G	A	1687.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.178;DP=460;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.08;ReadPosRankSum=0.504;SOR=0.723	GT:AD:DP:GQ:PL	0/1:64,65:129:99:1699,0,1611	9	0	1	0
chr19	17286647	17286647	-	GT	exonic	ANKLE1	.	frameshift insertion	ANKLE1:NM_001278444:exon8:c.1726_1727insGT:p.L591Vfs*19	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1235741244	0.0022	0.0034	0.0021	0.0024	0.0649	0.0022	0.0021	0.0624	0.0614	0.0030	0.0042	4.463e-05	0.0649	0.0036	0.0008	0.0003	0.0025	0.0046	0.0082	0.0095	0.0076	0.0088	0.0986	0.0078	0.0076	0.0911	0.0881	0.0090	0	0.0091	0.0003	0.0986	0.0059	0	0.0019	0.0061	0.0142	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	423.09	40	chr19	17286647	.	G	GGT	423.09	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.27;DP=465;ExcessHet=0.2348;FS=2.115;InbreedingCoeff=-0.1111;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=6.61;ReadPosRankSum=-0.205;SOR=0.46	GT:AD:DP:GQ:PL	0/1:18,14:40:99:239,0,1012	9	0	1	0
chr19	17286692	17286692	T	0	exonic	ANKLE1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.45	4100.81	50	chr19	17286692	.	T	*	4100.81	.	AC=9;AF=0.45;AN=20;BaseQRankSum=-0.268;DP=564;ExcessHet=0.2348;FS=4.99;InbreedingCoeff=-0.1111;MLEAC=9;MLEAF=0.45;MQ=60;MQRankSum=0;QD=12.39;ReadPosRankSum=0.42;SOR=1.13	GT:AD:DP:GQ:PL	0/1:33,17:50:99:535,0,1328	2	1	7	0
chr19	17323550	17323555	GGGGCT	-	exonic	ANO8	.	nonframeshift deletion	ANO8:NM_020959:exon18:c.3661_3666del:p.S1221_P1222del	.	430	1089	2	0	1	3	0.000917431	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0	0	0.0018	0	3.645e-05	0	0	0.0001035	16	154602	rs775368243	6.658e-05	7.251e-05	7.227e-05	6.039e-05	0.0019	5.453e-05	4.978e-05	0.0015	0.0014	0	0	0.0004	0.0019	0	0	8.403e-06	6.527e-05	0	3.947e-05	4.594e-05	2.573e-05	5.383e-05	0.0004	1.717e-05	1.13e-05	6.899e-05	2.884e-05	0	0	0	0.0012	0.0004	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	747.39	32	chr19	17323549	.	GGGGGCT	G	747.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0;DP=257;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=23.36;ReadPosRankSum=3;SOR=0.776	GT:AD:DP:GQ:PL	0/1:13,19:32:99:759,0,471	9	0	1	0
chr19	17998254	17998254	G	A	exonic	KCNN1	.	nonsynonymous SNV	KCNN1:NM_002248:exon11:c.G1480A:p.A494T	.	367	1153	1	1	0	3	0.00129926	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.033	.	.	0.00239617	0.0011	0	0	0.0233	0	0	0	0	0.0007438	115	154602	rs149096191	0.0003	0.0003	0.0003	0.0003	0.0108	0.0003	0.0003	0.0099	0.0096	0	0	3.939e-05	0.0108	0	0.0002	1.009e-05	0.0003	2.47e-05	0.0005	0.0005	0.0004	0.0006	0.0133	0.0004	0.0004	0.0108	0.0099	4.811e-05	0	0.0001	0	0.0133	0	0	2.941e-05	0	0	.	.	.	0.528	0.10173	T	0.0	0.02946	B	0.001	0.04355	B	0.407627	0.13040	N	0.727019	0.999975	0.18612	N	0.695	0.17993	N	.	.	.	.	.	.	0.017	0.03175	-1.0198	0.23780	T	0.043	0.18659	T	9	0.0031675398	0.00053	T	.	.	.	0.033	0.08068	.	.	0.102598925029	0.09809	0.1650186089365806	0.16421	0.512403420068	0.49281	0.502120137215	0.39123	T	0.221836	0.58551	T	-0.552901	0.00280	T	-0.552701	0.17066	T	0.0157639158705297	0.00366	T	0.464054	0.13535	T	0.028872564	0.02293	0.07513438	0.16509	0.028872564	0.02293	0.07513438	0.16508	-6.109	0.47182	T	.	.	0.065	0.01986	B	.;.	.;.	0.457991	0.08281	5.023	0.97298891999226544	0.33271	0.02548	0.07073	N	AEFDGBHCI	0.078131	0.15758	N	-1.12540476248548	0.06194	0.2844897	-1.17640017147478	0.06306	0.3031097	0.999999991572996	0.74766	0.17398	0.03958	1	0.255197	0.04854	0	0.340697	0.05905	0	0.109439	0.03173	0	.	.	3.78	-1.93	0.07180	-0.828000	0.04526	-0.493000	0.08848	-0.169000	0.11342	0.000000	0.06391	0.000000	0.08366	0.289000	0.24236	0.1542:0.0:0.5757:0.27	3.992	0.09032	958	0.09170	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	1116.43	86	chr19	17998254	.	G	A	1116.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.883;DP=428;ExcessHet=0;FS=2.886;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.98;ReadPosRankSum=2.34;SOR=1.051	GT:AD:DP:GQ:PL	0/1:39,47:86:99:1128,0,930	9	0	1	0
chr19	18080970	18080970	C	T	exonic	IL12RB1	.	nonsynonymous SNV	IL12RB1:NM_001290023:exon4:c.G271A:p.A91T,IL12RB1:NM_005535:exon4:c.G271A:p.A91T,IL12RB1:NM_153701:exon4:c.G271A:p.A91T,IL12RB1:NM_001290024:exon5:c.G391A:p.A131T	Immunodeficiency 30, Autosomal recessive	3	1518	1	0	0	1	0.000329272	.	.	.	348416	IL12RB1-related_disorder|not_provided|Mendelian_susceptibility_to_mycobacterial_diseases_due_to_complete_IL12RB1_deficiency	.|MedGen:C3661900|MONDO:MONDO:0013955,MedGen:C4013949,OMIM:614891,Orphanet:319552	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.076	.	.	0.00758786	0.0031	9.792e-05	8.681e-05	0.0427	0	1.518e-05	0	0.0001	0.0027619	427	154602	rs147215816	0.0008	0.0008	0.0008	0.0008	0.0268	0.0008	0.0007	0.0254	0.0249	0	0	0	0.0268	0	0.0004	3.238e-05	0.0008	0.0001	0.0014	0.0014	0.0010	0.0017	0.0375	0.0012	0.0012	0.0332	0.0315	9.631e-05	0	0.0003	0	0.0375	0	0	2.941e-05	0.0009	0.0004	.	.	.	1.0	0.03852	T	0.002	0.28654	B	0.001	0.15521	B	0.842018	0.07005	N	1.097780	1	0.08975	N	0.93	0.23535	L	-1.07	0.76948	T	-1.18	0.30140	N	0.068	0.04072	-1.0557	0.12855	T	0.048	0.20355	T	10	0.004359752	0.00089	T	.	.	.	0.076	0.22200	.	.	0.575246599268	0.57192	0.24676397903905337	0.24590	0.0818033332625	0.09213	0.319861829281	0.13400	T	0.113666	0.43087	T	-0.596258	0.00154	T	-0.591275	0.13556	T	0.00226171801557827	0.00023	T	0.568643	0.20211	T	0.0209483	0.00674	0.03047106	0.01506	0.015479997	0.00141	0.026404653	0.00728	-4.922	0.38860	T	.	.	0.080	0.13221	B	.;.;.;.	.;.;.;.	0.054221	0.04668	1.318	0.16546379459423061	0.00448	0.00702	0.02982	N	AEFBI	0.031371	0.03344	N	-1.32563143327205	0.03384	0.1510951	-1.32359630855542	0.04127	0.1940063	3.18874825317848E-4	0.06498	0.706548	0.73137	0	0.724815	0.89359	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	4.59	-0.158	0.12728	-0.714000	0.05104	-1.979000	0.04399	-0.204000	0.08590	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.1946:0.4885:0.0:0.3169	3.171	0.06160	952	0.10565	Fibronectin type III;Fibronectin type III;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.05	1750.43	133	chr19	18080970	.	C	T	1750.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.55;DP=461;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.16;ReadPosRankSum=-0.236;SOR=0.717	GT:AD:DP:GQ:PL	0/1:66,67:133:99:1762,0,1415	9	0	1	0
chr19	19635648	19635648	G	T	exonic	GMIP	.	nonsynonymous SNV	GMIP:NM_016573:exon14:c.C1401A:p.D467E	.	406	1080	35	1	0	37	0.0168411	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.102	.	0.0010	0.00519169	0.0048	9.61e-05	0.0009	0.0002	0.0012	0.0018	0.0077	0.0261	0.0041849	647	154602	rs141198269	0.0026	0.0026	0.0018	0.0033	0.0247	0.0025	0.0025	0.0238	0.0235	2.987e-05	0.0010	0.0076	5.038e-05	0.0009	0.0080	0.0010	0.0030	0.0247	0.0017	0.0017	0.0013	0.0021	0.0222	0.0015	0.0014	0.0188	0.0175	0.0002	0	0.0012	0.0072	0	0.0009	0.0034	0.0012	0.0014	0.0222	0.75	0.03587	T	0.0	0.92824	D	0.998	0.73220	D	0.899	0.63802	P	0.000916	0.41128	D	0.000000	0.964895	0.81001	D	1.475	0.37068	L	2.06	0.20523	T	-0.79	0.21860	N	0.067	0.03956	-1.0170	0.24690	T	0.045	0.19356	T	10	0.006407529	0.00145	T	.	.	.	0.102	0.29158	0.187	0.09646	0.404733080969	0.40085	0.3468900445969443	0.34603	0.873673126028	0.69486	0.513045012951	0.40648	T	0.029571	0.21161	T	-0.584628	0.00181	T	-0.59363	0.13354	T	0.0327127017805036	0.02424	T	0.534247	0.17838	T	0.06920902	0.15142	0.03692319	0.03239	0.06920902	0.15142	0.03692319	0.03238	-1.025	0.01027	T	.	.	0.133	0.28721	B	.	.	2.211830	0.28218	17.72	0.98102960630547464	0.38286	0.44499	0.27332	N	AEFDBCI	0.058329	0.10935	N	-0.124031639927003	0.36347	2.099781	-0.153208107527142	0.33286	1.902394	0.998886779435873	0.37891	0.722319	0.85440	0	0.698795	0.70079	0	0.723109	0.80598	0	0.635551	0.53088	0	.	.	4.01	0.513	0.16200	0.252000	0.18046	.	.	0.672000	0.70159	0.997000	0.40164	0.999000	0.35428	0.998000	0.85391	0.3952:0.0:0.6048:0.0	7.225	0.25183	437	0.80299	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.005539	0.000000	0.002717	0.005848	0.000000	0.008621	0.006098	0.022727	0.15	2907.45	75	chr19	19635648	.	G	T	2907.45	.	AC=3;AF=0.15;AN=20;BaseQRankSum=0.926;DP=514;ExcessHet=0.7463;FS=0;InbreedingCoeff=-0.1765;MLEAC=3;MLEAF=0.15;MQ=60;MQRankSum=0;QD=11.77;ReadPosRankSum=0.916;SOR=0.711	GT:AD:DP:GQ:PL	0/1:31,44:75:99:1066,0,726	7	0	3	0
chr19	20624371	20624371	G	0	exonic	ZNF626	.	.	.	.	798	89	186	378	71	1013	0.841071	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4286	8514.43	92	chr19	20624371	.	G	*	8514.43	.	AC=6;AF=0.429;AN=14;BaseQRankSum=3.15;DP=689;ExcessHet=0.3476;FS=0.648;InbreedingCoeff=0.2;MLEAC=8;MLEAF=0.571;MQ=58.36;MQRankSum=-3.697;QD=16.53;ReadPosRankSum=1.87;SOR=0.601	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,92:92:99:1|1:20624327_GGCTTTGCCACATTCTTCACATTTGTAGAATTTCTCTCCAGTATGATTCTCTCATGTGTAGTAAGGATTGAGGACTGGTTGAAGGCTTTGCCACATTCTTCACATTTGTAGGGTCTCTCTCCAGTATGAATTTTCTTATGTGTAGTAAGGTTAGAGGAGCACTTAAAA_G:2192,201,0:20624327	4	3	0	3
chr19	20624379	20624379	C	0	exonic	ZNF626	.	.	.	.	805	84	185	376	72	1009	0.847964	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4286	8119.48	92	chr19	20624379	.	C	*	8119.48	.	AC=6;AF=0.429;AN=14;BaseQRankSum=2.28;DP=686;ExcessHet=0.3476;FS=1.394;InbreedingCoeff=0.2;MLEAC=8;MLEAF=0.571;MQ=58.2;MQRankSum=-3.191;QD=15.67;ReadPosRankSum=0.506;SOR=0.54	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,92:92:99:1|1:20624327_GGCTTTGCCACATTCTTCACATTTGTAGAATTTCTCTCCAGTATGATTCTCTCATGTGTAGTAAGGATTGAGGACTGGTTGAAGGCTTTGCCACATTCTTCACATTTGTAGGGTCTCTCTCCAGTATGAATTTTCTTATGTGTAGTAAGGTTAGAGGAGCACTTAAAA_G:2192,201,0:20624327	4	3	0	3
chr19	20624804	20624804	G	C	exonic	ZNF626	.	nonsynonymous SNV	ZNF626:NM_001076675:exon4:c.C1073G:p.T358R	.	423	1030	69	0	0	69	0.0324096	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.010	0.00052238757973	.	.	0.0029	0.0034	0.0017	0.0005	0.0015	0.0031	0.0022	0.0044	3.84e-05	1	26028	rs201684374	2.334e-05	0.0006	2.869e-05	1.794e-05	2.521e-05	1.68e-05	1.482e-05	3e-07	1.1e-07	0	0	3.839e-05	2.521e-05	0.0006	0	1.803e-06	0	1.162e-05	0.0005	0.0094	0.0004	0.0006	0.0009	0.0004	0.0004	0.0003	0.0003	0.0005	0.0036	0.0005	0.0003	0.0006	0.0005	0	0.0004	0.0010	0.0009	.	.	.	0.898	0.04587	T	0.049	0.22227	B	0.026	0.20792	B	.	.	.	.	1	0.08975	N	-1.33	0.00679	N	3.18	0.07478	T	.	.	.	0.078	0.05287	-0.9935	0.31696	T	0.023	0.09696	T	8	0.010496229	0.00233	T	5.22E-4	0.00174	T	.	.	.	.	0.124217242631	0.12060	0.014608698947642334	0.01417	0.253056736109	0.27872	.	.	.	0.00116	0.00668	T	-0.335464	0.05708	T	-0.719647	0.04813	T	0.0263409838080406	0.01452	T	0.0307969	0.00205	T	0.05529088	0.10726	0.041683216	0.04792	0.05529088	0.10725	0.041683216	0.04792	-5.04	0.37271	T	.	.	0.180	0.44201	B	.;.	.;.	-0.312537	0.02564	0.311	0.10407538250522598	0.00130	0.00409	0.02034	N	AEFBHCI	0.029335	0.02749	N	-2.04734225397827	0.00167	0.007157553	-2.12141737029828	0.00167	0.007357579	4.19159266624134E-6	0.01202	0.651	0.46895	0	0.588015	0.36545	0	0.65145	0.50148	0	0.620846	0.47308	0	.	.	0.898	-1.8	0.07480	-9.429000	0.00015	.	.	-0.591000	0.04649	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.4716:0.2552:0.2732:0.0	2.796	0.05071	982	0.03397	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.019556	0.040404	0.013587	0.008197	0.050000	0.017241	0.018293	0.011364	0.05	113.43	187	chr19	20624804	.	G	C	113.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.18;DP=1105;ExcessHet=0;FS=4.965;InbreedingCoeff=-0.0527;MLEAC=1;MLEAF=0.05;MQ=59.15;MQRankSum=-7.878;QD=0.61;ReadPosRankSum=1.66;SOR=1.182	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:170,17:187:99:0|1:20624804_G_C:125,0,6728:20624804	9	0	1	0
chr19	22073501	22073501	T	C	exonic	ZNF257	.	nonsynonymous SNV	ZNF257:NM_033468:exon3:c.T163C:p.C55R,ZNF257:NM_001316996:exon4:c.T67C:p.C23R	.	429	1070	21	2	0	25	0.0115473	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.023	.	0.0098	0.00519169	0.0078	0.0115	0.0034	0.0001	0.0106	0.0103	0.0066	0.0018	0.0073673	1139	154602	rs140340371	0.0091	0.0092	0.0092	0.0090	0.0122	0.0090	0.0089	0.0107	0.0103	0.0117	0.0041	0.0034	0.0001	0.0095	0.0122	0.0102	0.0082	0.0028	0.0093	0.0093	0.0091	0.0094	0.0118	0.0089	0.0087	0.0109	0.0106	0.0118	0	0.0048	0.0035	0.0004	0.0111	0.0102	0.0099	0.0114	0.0023	.	.	.	0.17	0.36630	T	0.046	0.21875	B	0.03	0.21741	B	.	.	.	.	0.999996	0.08975	N	0.525	0.13617	N	5.74	0.00711	T	.	.	.	0.394	0.43514	-1.0199	0.23747	T	0.028	0.11838	T	8	0.0069460273	0.00158	T	.	.	.	.	.	.	.	0.260249123532	0.25628	0.16124184765088048	0.16045	0.0335249413607	0.03509	0.448565125465	0.31748	T	0.063971	0.32312	T	-0.626921	0.00100	T	-0.66391	0.08005	T	0.00530471252972828	0.00057	T	0.0126987	0.00070	T	0.41284332	0.61612	0.438038	0.67203	0.41284332	0.61613	0.438038	0.67203	-9.446	0.70523	D	.	.	0.134	0.30945	B	.;.;.	.;.;.	0.681434	0.10498	7.214	0.55642375102258312	0.05385	0.00101	0.00653	N	AEFBI	0.027052	0.02141	N	-1.21465401055954	0.04787	0.2167791	-1.29097713094608	0.04552	0.2149569	1.1391893242295E-6	0.01202	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	0.86	-0.384	0.11853	0.223000	0.17501	.	.	0.335000	0.19678	0.003000	0.16062	0.000000	0.08366	0.001000	0.02609	0.0:0.4405:0.0:0.5595	2.618	0.04611	988	0.01987	Krueppel-associated box|Krueppel-associated box;Krueppel-associated box|Krueppel-associated box;Krueppel-associated box|Krueppel-associated box	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.015609	0.005051	0.017663	0.023392	0.000000	0.043103	0.009146	0.015152	0.1	5894.14	251	chr19	22073501	.	T	C	5894.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-0.727;DP=765;ExcessHet=0.2348;FS=0;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=12.2;ReadPosRankSum=0.054;SOR=0.679	GT:AD:DP:GQ:PL	0/1:121,130:251:99:3384,0,3106	8	0	2	0
chr19	32974193	32974193	C	T	exonic	FAAP24	.	nonsynonymous SNV	FAAP24:NM_001300978:exon2:c.C92T:p.S31F,FAAP24:NM_152266:exon4:c.C377T:p.S126F	.	435	1066	21	0	0	21	0.00975383	.	.	.	716358	FAAP24-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.149	.	0.0045	0.00319489	0.0050	0.0013	0.0059	0	0	0.0073	0.0055	0.0022	0.0050129	775	154602	rs36017455	0.0061	0.0061	0.0060	0.0061	0.0154	0.0059	0.0059	0.0129	0.0119	0.0018	0.0064	0.0230	2.519e-05	0.0003	0.0154	0.0064	0.0077	0.0021	0.0048	0.0048	0.0052	0.0045	0.0073	0.0045	0.0044	0.0062	0.0059	0.0016	0	0.0073	0.0207	0	0.0002	0.0102	0.0066	0.0090	0.0029	.	.	.	0.005	0.74150	D	0.895	0.49247	P	0.548	0.49136	P	0.000428	0.44522	D	0.236287	0.974761	0.39132	D	2.515	0.73286	M	2.39	0.15724	T	.	.	.	0.746	0.74553	-1.0132	0.25912	T	0.006	0.01907	T	9	0.0065547526	0.00149	T	.	.	.	.	.	.	.	0.358340041657	0.35441	0.7600141654368904	0.75949	0.774584001353	0.64956	.	.	.	0.11925	0.44064	T	-0.442531	0.01250	T	-0.404856	0.32820	T	0.0322807306470619	0.02352	T	0.855114	0.54241	D	0.5251441	0.68554	0.30245417	0.56277	0.5251441	0.68555	0.30245417	0.56276	-9.045	0.67987	D	.	.	0.688	0.72544	P	.;.;.;.	.;.;.;.	4.586012	0.72498	25.8	0.99745702293790872	0.83852	0.97280	0.73763	D	AEFDBI	0.808333	0.73213	D	0.35307389746861	0.58902	4.06541	0.293026039342718	0.55131	3.67652	0.999997386101816	0.74766	0.615465	0.37627	0	0.633656	0.55848	0	0.658983	0.55881	0	0.645948	0.59608	0	.	.	4.53	4.53	0.55009	7.028000	0.76204	7.532000	0.59933	0.545000	0.25583	1.000000	0.71638	0.999000	0.35428	0.865000	0.41091	0.0:1.0:0.0:0.0	17.213	0.86818	338	0.86082	.;.;.;.	.	.	.	.	.	Likely benign	0	0	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	0.013105	0.005102	0.016304	0.026316	0.000000	0.000000	0.015244	0.007576	0.05	871.43	81	chr19	32974193	.	C	T	871.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.04;DP=406;ExcessHet=0;FS=4.953;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.76;ReadPosRankSum=-0.116;SOR=1.421	GT:AD:DP:GQ:PL	0/1:49,32:81:99:883,0,1432	9	0	1	0
chr19	32976669	32976669	C	T	exonic	FAAP24	.	nonsynonymous SNV	FAAP24:NM_001300978:exon3:c.C350T:p.T117M,FAAP24:NM_152266:exon5:c.C635T:p.T212M	.	428	1082	10	2	0	14	0.00642792	.	.	.	1289153	not_provided	MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.328	0.0348122791162	0.0015	0.00139776	0.0027	0.0005	0.0016	0	0.0026	0.0034	0.0011	0.0032	0.0024903	385	154602	rs148106526	0.0026	0.0026	0.0026	0.0026	0.0038	0.0026	0.0025	0.0031	0.0029	0.0002	0.0013	0.0005	0	0.0042	0.0038	0.0028	0.0024	0.0034	0.0022	0.0022	0.0024	0.0019	0.0048	0.0020	0.0019	0.0039	0.0036	0.0006	0	0.0048	0.0006	0.0002	0.0034	0.0034	0.0025	0.0028	0.0037	.	.	.	0.002	0.79402	D	1.0	0.90584	D	0.954	0.69447	D	0.000392	0.44960	D	0.226611	0.919453	0.37174	D	1.6	0.40776	L	2.52	0.14160	T	.	.	.	0.442	0.80180	-0.2184	0.77193	T	0.302	0.67325	T	9	0.0058882535	0.00132	T	0.034812	0.55931	D	.	.	.	.	0.28297238246	0.27903	0.20282100742663625	0.20199	0.95380284473	0.72739	.	.	.	0.050693	0.28669	T	-0.451339	0.01109	T	-0.421238	0.30934	T	0.020310959559876	0.00731	T	0.69903	0.30897	T	0.47475508	0.65581	0.47809625	0.69766	0.47475508	0.65582	0.47809625	0.69766	-7.246	0.55811	T	.	.	0.108	0.20469	B	.;.;.;.	.;.;.;.	4.024142	0.59457	24.1	0.99869682912059199	0.94726	0.88265	0.48115	D	AEFDGBCI	0.450678	0.50497	N	0.354377324027661	0.58969	4.072858	0.265603429066642	0.53542	3.522629	0.999998589771638	0.74766	0.712529	0.81865	0	0.635938	0.57008	0	0.779548	0.98927	0	0.599892	0.37169	0	.	.	5.21	4.17	0.48303	3.220000	0.50909	4.016000	0.41206	0.544000	0.25403	0.988000	0.36536	1.000000	0.68203	0.214000	0.22296	0.0:0.8566:0.1434:0.0	15.048	0.71506	361	0.84870	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.007583	0.000000	0.006793	0.011696	0.000000	0.008621	0.003106	0.007576	0.1	1584.14	65	chr19	32976669	.	C	T	1584.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=0.876;DP=460;ExcessHet=0.2348;FS=0;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=14.27;ReadPosRankSum=1.15;SOR=0.629	GT:AD:DP:GQ:PL	0/1:28,37:65:99:984,0,616	8	0	2	0
chr19	35511491	35511491	C	0	exonic	DMKN	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	2788.18	80	chr19	35511491	.	C	*	2788.18	.	AC=2;AF=0.1;AN=20;BaseQRankSum=1.19;DP=565;ExcessHet=0.6204;FS=0;InbreedingCoeff=0.0476;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=8.69;ReadPosRankSum=1.51;SOR=0.689	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:46,34:80:99:.:.:1240,0,1779:.	8	0	2	0
chr19	35765019	35765037	GCCTTCTCCCTGCAGCAAA	-	exonic	PROSER3	.	frameshift deletion	PROSER3:NM_001039887:exon7:c.627_630del:p.S209Rfs*103,PROSER3:NM_001367856:exon7:c.627_630del:p.S209Rfs*103	.	402	1119	1	0	0	1	0.000446628	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.799e-05	0	8.639e-05	0	0	4.497e-05	0	0.0002	3.84e-05	1	26028	rs750968211	3.559e-05	3.557e-05	2.724e-05	4.403e-05	0.0003	2.764e-05	2.503e-05	9.794e-05	7.84e-05	0	8.944e-05	0	0	0	0.0003	2.069e-05	0.0001	0.0002	1.313e-05	1.312e-05	0	2.685e-05	0.0002	2.18e-06	8.2e-07	.	.	0	0	0	0	0	0	0	1.47e-05	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	1815.39	109	chr19	35765018	.	TGCCTTCTCCCTGCAGCAAA	T	1815.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.586;DP=440;ExcessHet=0;FS=3.57;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=16.65;ReadPosRankSum=2.43;SOR=1.046	GT:AD:DP:GQ:PL	0/1:61,48:109:99:1827,0,2388	9	0	1	0
chr19	35866506	35866506	G	A	exonic	KIRREL2	.	stopgain	KIRREL2:NM_199179:exon15:c.G1722A:p.W574X,KIRREL2:NM_032123:exon16:c.G1872A:p.W624X	.	429	1092	1	0	0	1	0.000457666	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.7e-05	.	7.459e-05	9.779e-05	0	0	0	7.54e-05	0	0.0002	5.82e-05	9	154602	rs200403065	2.532e-05	2.531e-05	2.042e-05	3.026e-05	0.0002	1.868e-05	1.631e-05	3.765e-05	2.662e-05	0	0	0	0	0	0.0002	2.069e-05	9.936e-05	8.116e-05	1.973e-05	1.97e-05	0	4.039e-05	2.94e-05	5.25e-06	2.46e-06	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.94e-05	0.0005	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.999629	0.20843	N	.	.	.	.	.	.	.	.	.	0.1	0.08227	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.546939	0.00304	T	-0.819817	0.01456	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.	.;.	0.749083	0.11188	7.823	0.8745265434086309	0.17238	0.13095	0.17660	N	AEFBI	0.074235	0.14873	N	-0.463501199331234	0.23284	1.249293	-0.607897981590258	0.19290	1.034286	0.0011454087177538	0.08272	0.623552	0.39893	0	0.59043	0.45803	0	0.667671	0.60360	0	0.478617	0.07155	0	.	.	4.31	2.08	0.26079	0.551000	0.23068	1.876000	0.29420	0.676000	0.76740	0.048000	0.21332	0.884000	0.27742	0.047000	0.14932	0.1063:0.192:0.7017:0.0	5.990	0.18684	856	0.34373	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1140.43	75	chr19	35866506	.	G	A	1140.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.39;DP=390;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=15.21;ReadPosRankSum=-1.765;SOR=0.793	GT:AD:DP:GQ:PL	0/1:38,37:75:99:1152,0,1101	9	0	1	0
chr19	36103640	36103640	C	T	exonic	WDR62	.	nonsynonymous SNV	WDR62:NM_001083961:exon30:c.C3812T:p.A1271V,WDR62:NM_173636:exon30:c.C3797T:p.A1266V	Microcephaly 2, primary, autosomal recessive, with or without cortical malformations, Autosomal recessive	0	1517	4	1	0	6	0.00197368	.	.	.	193774	not_specified|Inborn_genetic_diseases|not_provided|Microcephaly_2,_primary,_autosomal_recessive,_with_or_without_cortical_malformations	MedGen:CN169374|MeSH:D030342,MedGen:C0950123|MedGen:C3661900|MONDO:MONDO:0011435,MedGen:C1858535,OMIM:604317,Orphanet:2512	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.025	0.029453733648	0.0045	0.00139776	0.0030	0.0006	0.0003	0	0.0018	0.0049	0.0033	0.0006	0.0032535	503	154602	rs111294536	0.0045	0.0045	0.0046	0.0044	0.0054	0.0044	0.0044	0.0053	0.0053	0.0007	0.0006	0.0034	0.0001	0.0018	0.0012	0.0054	0.0036	0.0006	0.0029	0.0029	0.0033	0.0026	0.0055	0.0027	0.0026	0.0051	0.0049	0.0008	0.0022	0.0003	0.0023	0	0.0015	0	0.0055	0.0019	0.0010	0.75	0.03587	T	0.248	0.23845	T	0.308	0.32740	B	0.057	0.26280	B	0.656336	0.05953	N	1.203910	1	0.08975	N	0	0.06538	N	0.87	0.49358	T	-0.27	0.11366	N	0.049	0.02088	-1.0480	0.14960	T	0.044	0.18783	T	10	0.0037599802	0.00070	T	0.029454	0.51963	D	0.025	0.05312	.	.	0.409398589964	0.40557	0.1223632428175173	0.12163	0.224555843083	0.24988	0.239935591817	0.02784	T	0.002905	0.02299	T	-0.660273	0.00063	T	-0.714532	0.05064	T	0.00231105682310841	0.00024	T	0.60344	0.22635	T	0.034834187	0.03986	0.03335124	0.02216	0.03587681	0.04306	0.030085668	0.01420	-3.734	0.19821	T	0.0822271729829223	0.04324	0.080	0.08417	B	.;.	.;.	0.566278	0.09345	6.129	0.21531012670184754	0.00824	0.05036	0.10821	N	AEFBCI	0.039757	0.05818	N	-1.03347441876775	0.07916	0.3693647	-1.1086378245104	0.07535	0.3668569	0.995392839461892	0.34103	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.635551	0.53088	0	.	.	4.93	-2.72	0.05616	-0.401000	0.07293	.	.	0.587000	0.30956	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.1416:0.2677:0.4161:0.1746	2.644	0.04677	415	0.81806	.;.	.	.	.	.	.	Likely benign	0	0	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	0.001007	0.000000	0.001359	0.000000	0.000000	0.008621	0.003049	0.000000	0.05	2152.43	215	chr19	36103640	.	C	T	2152.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.42;DP=1122;ExcessHet=0;FS=6.675;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.01;ReadPosRankSum=-0.191;SOR=0.723	GT:AD:DP:GQ:PL	0/1:128,87:215:99:2164,0,3245	9	0	1	0
chr19	40034701	40034701	T	C	exonic	ZNF780B	.	nonsynonymous SNV	ZNF780B:NM_001005851:exon5:c.A2158G:p.T720A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.024	0.00258519917037	7.7e-05	.	2.484e-05	0	8.648e-05	0	0	3e-05	0	0	2.59e-05	4	154602	rs373373493	3.42e-05	3.42e-05	3.539e-05	3.3e-05	0.0001	2.631e-05	2.375e-05	5.849e-05	3.758e-05	0.0001	2.236e-05	0	0	0	0	3.417e-05	9.935e-05	0	1.972e-05	1.97e-05	3.854e-05	0	4.41e-05	5.24e-06	2.45e-06	1.171e-05	6.25e-06	0	0	0	0	0	0	0	4.41e-05	0	0	0.024	0.47745	D	0.012	0.63918	D	0.613	0.39753	P	0.219	0.37734	B	.	.	.	.	0.919031	0.27336	N	0.905	0.23240	L	1.73	0.26445	T	-3.56	0.71276	D	0.111	0.17691	-1.0568	0.12569	T	0.053	0.22346	T	9	0.14339045	0.27224	T	0.002585	0.05206	T	0.024	0.04979	.	.	0.390842690916	0.38694	0.01044163900318312	0.01005	0.206097687803	0.23033	0.346213757992	0.17363	T	0.043313	0.26462	T	-0.268015	0.11979	T	-0.539896	0.18306	T	0.715585291385651	0.41476	D	.	.	.	0.11701718	0.27593	0.13169685	0.31619	0.11701718	0.27593	0.13169685	0.31619	-8.153	0.62108	D	.	.	0.147	0.37005	B	.;.;.	.;.;.	2.548186	0.32975	19.20	0.99494304994160321	0.67630	0.00626	0.02758	N	AEFDGBCI	0.148654	0.27258	N	-0.450745307934087	0.23714	1.275441	-0.553404586287914	0.20716	1.117371	0.740502284768092	0.23204	0.615465	0.37627	0	0.53679	0.11191	0	0.575934	0.27490	0	0.655142	0.61905	0	.	.	2.42	2.42	0.28720	1.712000	0.37560	.	.	0.497000	0.22564	1.000000	0.71638	0.000000	0.08366	0.972000	0.54974	0.0:0.0:0.0:1.0	8.08	0.29901	784	0.47045	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	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.05	2679.43	178	chr19	40034701	.	T	C	2679.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.73;DP=495;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=15.05;ReadPosRankSum=-0.038;SOR=0.734	GT:AD:DP:GQ:PL	0/1:80,98:178:99:2691,0,2036	9	0	1	0
chr19	40534293	40534293	G	C	exonic	SPTBN4	.	nonsynonymous SNV	SPTBN4:NM_025213:exon3:c.G337C:p.D113H,SPTBN4:NM_020971:exon20:c.G4309C:p.D1437H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.335	0.014924753043	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009	0.57480	D	0.016	0.66756	D	0.999	0.77913	D	0.947	0.68407	D	0.003244	0.35212	N	0.179093	0.999984	0.54805	D	2.445	0.70938	M	0.43	0.56772	T	-4.85	0.82896	D	0.353	0.39861	-0.4130	0.71614	T	0.322	0.69099	T	10	0.43295938	0.57610	T	0.014925	0.35361	T	0.335	0.65718	0.652	0.78963	0.756102065754	0.75388	0.504818884318711	0.50403	.	.	0.697182059288	0.66737	T	0.286867	0.86581	T	0.0664873	0.60418	T	-0.142272	0.59921	T	0.992745578289032	0.83306	D	0.918808	0.83363	D	0.38694748	0.59814	0.42492506	0.66317	0.38694748	0.59815	0.42492506	0.66317	-9.537	0.71089	D	.	.	0.191	0.51209	B	.;.;.;.;.;.	.;.;.;.;.;.	5.240157	0.87974	29.4	0.99450564320435075	0.65274	0.99323	0.94492	D	AEFDGBI	0.946320	0.95564	D	0.792783816344261	0.85651	8.640394	0.787598624844167	0.88919	9.766446	0.999999989130681	0.74766	0.516011	0.20929	0	0.610034	0.51514	0	0.576033	0.28219	0	0.613276	0.41899	0	.	.	5.03	5.03	0.67015	9.940000	0.98890	.	.	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:0.0:1.0:0.0	17.316	0.87111	735	0.53711	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	965.43	82	chr19	40534293	.	G	C	965.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.573;DP=416;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.77;ReadPosRankSum=0.633;SOR=0.633	GT:AD:DP:GQ:PL	0/1:44,38:82:99:977,0,1172	9	0	1	0
chr19	41425979	41425979	G	A	exonic	B3GNT8	.	nonsynonymous SNV	B3GNT8:NM_001385648:exon2:c.C800T:p.S267L,B3GNT8:NM_198540:exon3:c.C800T:p.S267L	.	417	1104	1	0	0	1	0.000452694	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.077	0.00665605262985	.	0.000199681	6.754e-05	0	0	0.0001	0	3.098e-05	0	0.0003	5.82e-05	9	154602	rs527781792	4.589e-05	4.583e-05	3.679e-05	5.509e-05	0.0004	3.666e-05	3.351e-05	0.0003	0.0002	0	0	0	2.521e-05	0	0	2.88e-05	3.314e-05	0.0004	3.283e-05	3.281e-05	1.285e-05	5.372e-05	0.0004	1.26e-05	7.97e-06	7.29e-05	3.029e-05	0	0	0	0	0	0	0	4.411e-05	0	0.0004	0.168	0.23007	T	0.32	0.19131	T	0.059	0.23051	B	0.017	0.18140	B	0.850900	0.08963	N	0.926171	1	0.08975	N	0.385	0.12166	N	0.95	0.43279	T	-1.42	0.34992	N	0.164	0.17278	-1.0575	0.12388	T	0.061	0.25492	T	10	0.042707026	0.03045	T	0.006656	0.17557	T	0.077	0.22490	0.57	0.69299	0.0716867268079	0.06686	0.49738839216920594	0.49659	0.13049011374	0.14724	0.405054330826	0.25771	T	0.014462	0.12310	T	-0.496482	0.00598	T	-0.64042	0.09638	T	0.0246302100548231	0.01225	T	0.735426	0.35200	T	0.058417954	0.11750	0.117888354	0.28459	0.058417954	0.11750	0.117888354	0.28458	-3.234	0.12901	T	.	.	0.091	0.12938	B	.	.	0.558091	0.09265	6.048	0.7832413728191836	0.12251	0.20201	0.20952	N	AEFDBCI	0.233090	0.35607	N	-1.50130839407769	0.01842	0.08075155	-1.55938935250207	0.01912	0.08721308	0.999996918760477	0.74766	0.489673	0.17934	0	0.379588	0.06130	0	0.536957	0.11973	0	0.662433	0.64102	0	.	.	4.09	-5.15	0.02648	0.077000	0.14593	-0.367000	0.09633	-0.888000	0.02403	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.2996:0.7004:0.0	19.166	0.93545	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	.	.	.	.	.	.	.	.	0.05	1886.43	117	chr19	41425979	.	G	A	1886.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.34;DP=452;ExcessHet=0;FS=3.342;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=16.12;ReadPosRankSum=-0.239;SOR=1	GT:AD:DP:GQ:PL	0/1:52,65:117:99:1898,0,1306	9	0	1	0
chr19	42080447	42080447	G	A	exonic	ZNF574	.	nonsynonymous SNV	ZNF574:NM_001330519:exon2:c.G2111A:p.R704H,ZNF574:NM_022752:exon2:c.G1841A:p.R614H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.187	0.00998756900412	.	.	8.28e-06	0	0	0	0	0	0	6.058e-05	6.5e-06	1	154602	rs764730148	4.788e-06	4.788e-06	4.084e-06	5.5e-06	5.974e-05	1.99e-06	1.28e-06	9.89e-06	3.7e-06	5.974e-05	2.236e-05	0	0	0	0	1.799e-06	1.656e-05	1.159e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.043	0.41364	D	0.042	0.50226	D	0.012	0.16265	B	0.004	0.10090	B	0.001957	0.37596	N	0.232409	0.869465	0.29609	N	2.5	0.72771	M	2.37	0.15964	T	-3.15	0.65056	D	0.561	0.60579	-1.0460	0.15534	T	0.049	0.21065	T	10	0.36119935	0.52746	T	0.009988	0.25990	T	0.187	0.46274	0.504	0.59770	0.286597616719	0.28274	0.3352617968671613	0.33439	1.35702460636	0.84203	0.716514587402	0.69538	T	0.281263	0.65399	T	-0.114501	0.34025	T	-0.305395	0.44153	T	0.465183258056641	0.31355	T	0.838616	0.54342	T	0.10279514	0.24291	0.081995	0.18680	0.10279514	0.24291	0.081995	0.18679	-7.741	0.59292	D	.	.	0.553	0.66923	A	.;.;.	.;.;.	4.941638	0.81561	27.6	0.99567832895250141	0.72197	0.86053	0.45263	D	AEFDBCI	.	.	.	-0.318190739850905	0.28457	1.569765	-0.238384773650571	0.30173	1.696646	0.999681648509105	0.41756	0.67177	0.52595	0	0.697927	0.68747	0	0.702456	0.68683	0	0.635551	0.53088	0	.	.	5.42	4.39	0.52211	2.315000	0.43412	9.955000	0.82755	0.676000	0.76740	0.920000	0.31959	1.000000	0.68203	0.548000	0.30127	0.0809:0.0:0.7631:0.156	8.185	0.30491	846	0.36215	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.000000	0.05	2966.43	211	chr19	42080447	.	G	A	2966.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.093;DP=531;ExcessHet=0;FS=1.07;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.06;ReadPosRankSum=2.09;SOR=0.799	GT:AD:DP:GQ:PL	0/1:96,115:211:99:2978,0,2330	9	0	1	0
chr19	42095399	42095399	C	G	exonic	POU2F2	.	nonsynonymous SNV	POU2F2:NM_001207025:exon11:c.G1018C:p.V340L,POU2F2:NM_001207026:exon11:c.G1018C:p.V340L,POU2F2:NM_001247994:exon11:c.G970C:p.V324L,POU2F2:NM_002698:exon11:c.G970C:p.V324L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.939	0.359661340362	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	6.841e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.0	0.92824	D	0.998	0.77913	D	0.989	0.78396	D	0.000001	0.84330	D	0.000000	1	0.81001	D	3.015	0.86134	M	-4.0	0.96339	D	-3.0	0.62343	D	0.826	0.82862	1.095	0.99469	D	0.951	0.98412	D	10	0.89701736	0.89057	D	0.359661	0.92479	D	0.939	0.98672	0.557	0.67547	0.949703262491	0.94917	0.9550304941655845	0.95488	2.60485491865	0.98196	0.885964512825	0.94748	D	0.792883	0.99163	D	0.495984	0.94173	D	0.47467	0.94096	D	0.993351914106228	0.84121	D	0.988801	0.96255	D	0.74310046	0.80470	0.69191414	0.81869	0.74310046	0.80471	0.69191414	0.81870	-12.988	0.89314	D	.	.	1.000	0.99395	P	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	5.327483	0.89412	30	0.99782441860528814	0.86867	0.97748	0.76847	D	AEFBI	0.946708	0.95645	D	0.844617874197824	0.88800	9.71644	0.738513627196856	0.85298	8.538503	0.999999999650972	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.667671	0.60360	0	0.699875	0.68795	0	.	.	3.99	3.99	0.45527	7.854000	0.85267	7.690000	0.65738	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:1.0:0.0:0.0	15.399	0.74539	846	0.36215	.;Homeobox domain|POU domain|Homeobox, conserved site|Homeobox domain|Homeobox domain|Homeobox domain;Homeobox domain|POU domain|Homeobox, conserved site|Homeobox domain|Homeobox domain|Homeobox domain;Homeobox domain|POU domain|Homeobox, conserved site|Homeobox domain|Homeobox domain|Homeobox domain;.;Homeobox domain|POU domain|Homeobox, conserved site|Homeobox domain|Homeobox domain|Homeobox domain;Homeobox domain|POU domain|Homeobox, conserved site|Homeobox domain|Homeobox domain|Homeobox domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1667	424.85	82	chr19	42095399	.	C	G	424.85	.	AC=3;AF=0.167;AN=18;BaseQRankSum=-3.357;DP=824;ExcessHet=0.7463;FS=238.433;InbreedingCoeff=-0.2273;MLEAC=3;MLEAF=0.167;MQ=60;MQRankSum=0;QD=1.83;ReadPosRankSum=-0.96;SOR=8.713	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:61,21:82:99:0|1:42095395_A_G:235,0,1172:42095395	6	0	3	1
chr19	42295055	42295055	C	T	exonic	CIC	.	nonsynonymous SNV	CIC:NM_001379484:exon20:c.C4685T:p.S1562L,CIC:NM_001379485:exon20:c.C4682T:p.S1561L,CIC:NM_015125:exon20:c.C4691T:p.S1564L,CIC:NM_001304815:exon21:c.C7418T:p.S2473L,CIC:NM_001379480:exon21:c.C7415T:p.S2472L,CIC:NM_001379482:exon21:c.C7415T:p.S2472L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.112	0.265794719012	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1308540080	1.012e-05	1.026e-05	9.995e-06	1.025e-05	3.164e-05	5.87e-06	4.6e-06	4.69e-06	3.42e-06	3.164e-05	0	0	2.787e-05	0	0	9.274e-06	0	2.501e-05	6.587e-06	6.568e-06	0	1.349e-05	1.473e-05	0	0	.	.	0	0	0	0	0	0	0	1.473e-05	0	0	.	.	.	0.055	0.51421	T	0.001	0.07471	B	0.001	0.04355	B	.	.	.	.	0.970305	0.27887	N	0	0.06538	N	-5.48	0.99131	D	.	.	.	0.152	0.15609	-1.0409	0.17041	T	0.064	0.26456	T	8	0.11448333	0.21541	T	0.265795	0.89687	D	0.112	0.31546	0.1	0.01484	0.292174397486	0.28832	0.24776580802522458	0.24690	0.902315638145	0.70680	0.760424792767	0.75993	T	0.023373	0.41104	T	-0.124681	0.32359	T	-0.157193	0.58604	T	0.0529498487319	0.06011	T	0.913509	0.70110	D	0.14045821	0.32405	0.19731392	0.43506	0.14045821	0.32405	0.19731392	0.43505	-4.094	0.25201	T	.	.	0.096	0.15430	B	.;.;.;.	.;.;.;.	3.459560	0.48208	22.6	0.98825999114537133	0.46869	0.74855	0.36629	D	AEFDBCI	0.154100	0.27907	N	-0.331121663963494	0.27972	1.539028	-0.168046049707077	0.32720	1.864329	0.991091485452338	0.32370	0.634777	0.41761	0	0.694456	0.67091	0	0.643519	0.47002	0	0.636168	0.56350	0	.	.	4.42	4.42	0.52775	0.618000	0.24068	3.947000	0.40646	0.587000	0.30956	0.899000	0.31403	1.000000	0.68203	0.834000	0.39329	0.0:1.0:0.0:0.0	12.733	0.56579	637	0.64373	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	539.43	46	chr19	42295055	.	C	T	539.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=3.3;DP=355;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.73;ReadPosRankSum=-1.351;SOR=0.84	GT:AD:DP:GQ:PL	0/1:27,19:46:99:551,0,614	9	0	1	0
chr19	43195052	43195052	C	A	exonic	PSG4	.	stopgain	PSG4:NM_001276495:exon3:c.G652T:p.E218X,PSG4:NM_001316339:exon3:c.G565T:p.E189X,PSG4:NM_002780:exon4:c.G931T:p.E311X	.	14	1445	63	0	0	63	0.0213342	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0024	0.00439297	0.0054	9.628e-05	0.0013	0.0001	0.0012	0.0033	0.0055	0.0246	0.0047606	736	154602	rs147584129	0.0038	0.0038	0.0031	0.0045	0.0246	0.0037	0.0037	0.0237	0.0234	0.0004	0.0017	0.0092	0.0001	0.0007	0.0154	0.0024	0.0042	0.0246	0.0024	0.0025	0.0020	0.0029	0.0235	0.0022	0.0021	0.0200	0.0187	0.0005	0	0.0016	0.0076	0.0004	0.0006	0.0034	0.0025	0.0033	0.0235	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.053	0.02462	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.00454612	0.51026	T	0.238947	0.85101	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerant;.;.	High;.;.	6.631227	0.95511	35	0.98047665674102158	0.37843	0.02893	0.07682	N	AEFI	0.065985	0.12899	N	0.0948068697086606	0.46220	2.865795	-0.329135309425047	0.27162	1.505306	3.08458017946517E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	1.45	1.45	0.21708	0.768000	0.26252	.	.	-0.748000	0.03609	0.084000	0.22438	0.000000	0.08366	0.003000	0.05239	0.0:1.0:0.0:0.0	6.272	0.20167	814	0.42100	Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;.;Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.018605	0.013699	0.010929	0.034483	0.000000	0.000000	0.025000	0.032787	0.15	7772.45	262	chr19	43195052	.	C	A	7772.45	.	AC=3;AF=0.15;AN=20;BaseQRankSum=-1.64;DP=1055;ExcessHet=0.7463;FS=1.745;InbreedingCoeff=-0.1765;MLEAC=3;MLEAF=0.15;MQ=54.21;MQRankSum=-8.608;QD=10.09;ReadPosRankSum=1.2;SOR=0.591	GT:AD:DP:GQ:PL	0/1:137,125:262:99:2948,0,3602	7	0	3	0
chr19	44176223	44176223	C	T	exonic	ZNF226	.	nonsynonymous SNV	ZNF226:NM_001032372:exon6:c.C961T:p.H321Y,ZNF226:NM_001032373:exon6:c.C961T:p.H321Y,ZNF226:NM_001319088:exon6:c.C961T:p.H321Y,ZNF226:NM_001319090:exon6:c.C961T:p.H321Y,ZNF226:NM_001319089:exon7:c.C961T:p.H321Y,ZNF226:NM_016444:exon7:c.C961T:p.H321Y	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.048	0.00191142744322	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1045613286	9.577e-06	9.577e-06	5.445e-06	1.375e-05	4.638e-05	5.56e-06	4.35e-06	1.583e-05	9.3e-06	0	0	0	2.519e-05	0	0	5.396e-06	4.967e-05	4.638e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	0.709	0.05544	T	0.602	0.39365	P	0.27	0.39872	B	0.721745	0.09929	N	0.813564	1	0.08975	N	0.47	0.13106	N	2.62	0.12988	T	-1.76	0.41618	N	0.135	0.17553	-1.0357	0.18637	T	0.023	0.09832	T	10	0.07923156	0.12721	T	0.001911	0.03377	T	0.048	0.13305	0.352	0.35084	0.394837016283	0.39092	0.041072785067505474	0.04052	0.0464492927924	0.05053	0.325263917446	0.14217	T	0.023364	0.17850	T	-0.516654	0.00460	T	-0.77726	0.02537	T	0.0669023379589594	0.08209	T	0.184782	0.01911	T	0.027527794	0.01957	0.046466757	0.06484	0.027527794	0.01957	0.046466757	0.06484	-4.185	0.26534	T	.	.	0.075	0.05979	B	.;.;.	.;.;.	0.204754	0.05893	2.331	0.22185248547138245	0.00881	0.11749	0.16837	N	AEFDGBCI	0.062371	0.11986	N	-0.896080508370334	0.10934	0.5250862	-0.978954873402179	0.10258	0.5155132	0.173383940192697	0.17768	0.706548	0.73137	0	0.577304	0.33150	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	3.88	2.84	0.32241	-1.129000	0.03356	.	.	-0.172000	0.11096	0.000000	0.06391	0.000000	0.08366	0.069000	0.16583	0.1778:0.5481:0.173:0.1012	3.018	0.05699	906	0.23090	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	2684.43	214	chr19	44176223	.	C	T	2684.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.617;DP=532;ExcessHet=0;FS=1.046;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.54;ReadPosRankSum=-0.689;SOR=0.774	GT:AD:DP:GQ:PL	0/1:111,103:214:99:2696,0,3026	9	0	1	0
chr19	44942329	44942329	G	A	exonic	APOC4	.	nonsynonymous SNV	APOC4:NM_001646:exon1:c.G52A:p.V18M	.	410	1110	1	1	0	3	0.00134953	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.047	.	0.0002	0.00698882	0.0053	0	0.0004	0.0392	0.0216	0.0021	0.0167	0.0005	0.0043531	673	154602	rs13306210	0.0021	0.0021	0.0021	0.0021	0.0336	0.0020	0.0020	0.0321	0.0315	0	0.0003	0	0.0336	0.0227	0	0.0003	0.0024	0.0005	0.0031	0.0031	0.0022	0.0041	0.0409	0.0029	0.0028	0.0363	0.0346	2.404e-05	0	0.0003	0	0.0409	0.0205	0	0.0005	0.0019	0.0010	.	.	.	0.013	0.63109	D	0.998	0.73220	D	0.866	0.61580	P	0.610869	0.05700	N	1.286830	1	0.08975	N	1.04	0.26193	L	1.96	0.75789	T	.	.	.	0.413	0.47857	-1.0368	0.18295	T	0.020	0.08500	T	10	0.0046800673	0.00098	T	.	.	.	.	.	.	.	0.690867673639	0.68821	0.13119788472503913	0.13044	.	.	.	.	.	0.364608	0.73016	T	-0.481309	0.00727	T	-0.423164	0.30714	T	0.0635384996668278	0.07714	T	0.60194	0.22516	T	0.01601908	0.00171	0.037269965	0.03346	0.01601908	0.00171	0.037269965	0.03346	-5.693	0.43632	T	.	.	0.242	0.49334	B	.;.;.	.;.;.	-0.168586	0.03255	0.552	0.96280441406628137	0.29279	0.02453	0.06899	N	AEFDBHCI	0.262049	0.37987	N	-0.519758414961375	0.21442	1.137932	-0.796960322257361	0.14570	0.7619345	0.00419112216386002	0.10453	0.487112	0.14033	0	0.491513	0.07743	0	0.578056	0.29568	0	0.564101	0.26826	0	.	.	3.25	-1.98	0.07070	-2.896000	0.00774	.	.	0.656000	0.54149	0.000000	0.06391	0.000000	0.08366	0.066000	0.16387	0.2671:0.3942:0.3387:0.0	3.877	0.08566	873	0.30802	.;.;.	.	.	.	.	rs13306210	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.05	1689.43	170	chr19	44942329	.	G	A	1689.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.59;DP=517;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.94;ReadPosRankSum=-1.794;SOR=0.662	GT:AD:DP:GQ:PL	0/1:99,71:170:99:1701,0,2331	9	0	1	0
chr19	46782545	46782545	G	C	exonic	SLC1A5	.	nonsynonymous SNV	SLC1A5:NM_001145145:exon3:c.C56G:p.P19R,SLC1A5:NM_005628:exon4:c.C662G:p.P221R	.	427	1092	3	0	0	3	0.00137174	.	.	.	3214267	SLC1A5-related_disorder	.	no_assertion_criteria_provided	Likely_benign	.	.	.	.	.	.	.	.	0.255	0.0768672815685	0.0022	0.000998403	0.0020	0.0006	0.0010	0	0.0002	0.0027	0.0022	0.0029	0.0021022	325	154602	rs140908383	0.0027	0.0027	0.0027	0.0027	0.0031	0.0026	0.0026	0.0031	0.0030	0.0002	0.0006	3.826e-05	0	0.0005	0.0026	0.0031	0.0019	0.0031	0.0018	0.0019	0.0019	0.0018	0.0031	0.0017	0.0016	0.0027	0.0026	0.0007	0	0.0015	0	0.0002	0.0003	0	0.0031	0.0024	0.0023	0.05	0.39575	D	0.057	0.46406	T	0.031	0.20130	B	0.114	0.31755	B	.	.	.	.	0.700633	0.81001	D	2.135	0.59519	M	0.58	0.71543	T	-5.12	0.86073	D	0.719	0.87157	-0.9299	0.44153	T	0.159	0.49296	T	9	0.050892085	0.04889	T	0.076867	0.72635	D	0.255	0.56562	.	.	0.866366014938	0.86506	0.8064361160471855	0.80598	0.685980076296	0.60309	0.549354553223	0.45767	T	0.395609	0.75445	T	-0.234837	0.16013	T	-0.107769	0.62789	T	0.133869610420539	0.15735	T	0.777022	0.40965	T	0.18600923	0.39990	0.23905762	0.49245	0.18600923	0.39989	0.23905762	0.49244	-4.254	0.40425	T	.	.	0.129	0.56933	B	.;.;.	.;.;.	2.537396	0.32816	19.16	0.95137448044191542	0.26256	0.98593	0.84474	D	AEFBHCI	0.892414	0.82932	D	-0.369517364913626	0.26561	1.450529	-0.3600786081502	0.26198	1.445537	0.999999989571933	0.74766	0.706548	0.73137	0	0.672317	0.65289	0	0.696144	0.63334	0	0.714379	0.83352	0	.	.	4.77	2.6	0.30173	7.584000	0.81862	4.807000	0.45013	0.647000	0.52776	1.000000	0.71638	1.000000	0.68203	0.001000	0.02609	0.0827:0.0:0.7642:0.1531	8.546	0.32580	917	0.20147	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.1	1891.14	89	chr19	46782545	.	G	C	1891.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-0.348;DP=456;ExcessHet=0.2348;FS=4.732;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=11.06;ReadPosRankSum=-0.127;SOR=1.101	GT:AD:DP:GQ:PL	0/1:44,45:89:99:1060,0,1185	8	0	2	0
chr19	47780906	47780906	C	T	exonic	SELENOW	.	unknown	UNKNOWN	.	421	1091	9	1	0	11	0.00501596	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.037	.	0.0002	0.0253594	0.0100	0.0006	0.0007	0.1208	0.0019	0.0010	0.0060	0.0031	0.0090296	1396	154602	rs80333860	0.0042	0.0042	0.0043	0.0041	0.1184	0.0041	0.0041	0.1156	0.1144	0.0004	0.0004	0.0015	0.1184	0.0018	0.0021	0.0005	0.0072	0.0036	0.0048	0.0049	0.0042	0.0055	0.1215	0.0045	0.0044	0.1135	0.1104	0.0004	0	0.0009	0.0012	0.1215	0.0008	0	0.0006	0.0052	0.0050	0.054	0.38633	T	0.059	0.46182	T	0.0	0.02946	B	0.0	0.01387	B	0.918827	0.08501	N	0.961651	0.999999	0.08975	N	.	.	.	0.94	0.43672	T	-0.18	0.09796	N	0.278	0.32591	-1.0375	0.18078	T	0.001	0.00438	T	9	0.0016022921	0.00019	T	.	.	.	0.037	0.09474	.	.	0.134241683229	0.13084	.	.	0.0979953761928	0.11061	0.443825602531	0.31099	T	0.015291	0.14613	T	-0.650431	0.00072	T	-0.599954	0.12816	T	0.0146846796753103	0.00305	T	0.178882	0.01767	T	0.04818381	0.08357	0.05038276	0.07897	0.04818381	0.08356	0.05038276	0.07896	.	.	.	.	.	0.056	0.01367	B	.;.;.;.;.	.;.;.;.;.	1.235350	0.16305	12.45	0.95245460720698705	0.26495	0.03834	0.09181	N	AEFDBCI	0.175896	0.30309	N	-1.07627306900191	0.07082	0.3279762	-1.13093928832153	0.07115	0.344888	0.999903079962271	0.45458	0.744818	0.98587	0	0.732433	0.95613	0	0.698795	0.65105	0	0.714379	0.83352	0	.	.	4.27	-3.89	0.03916	-0.055000	0.11763	-0.328000	0.09912	-1.689000	0.00774	0.269000	0.25036	0.000000	0.08366	0.031000	0.13245	0.0:0.7264:0.0:0.2736	11.183	0.47869	906	0.23090	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.004532	0.000000	0.006793	0.002924	0.000000	0.000000	0.000000	0.011364	0.05	2242.43	144	chr19	47780906	.	C	T	2242.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=4.66;DP=494;ExcessHet=0;FS=5.135;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=15.57;ReadPosRankSum=1.16;SOR=1.166	GT:AD:DP:GQ:PL	0/1:72,72:144:99:2254,0,1866	9	0	1	0
chr19	48195621	48195621	G	T	exonic	ZSWIM9	.	nonsynonymous SNV	ZSWIM9:NM_199341:exon4:c.G1557T:p.Q519H	.	405	1096	20	1	0	22	0.00993677	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.005	.	.	0.000998403	0.0089	0.0099	0	0	0	0.0113	0	0	0.0012872	199	154602	rs141761031	0.0068	0.0063	0.0068	0.0069	0.0088	0.0067	0.0067	0.0072	0.0072	0.0009	0.0054	0.0142	3.132e-05	0.0016	0.0088	0.0074	0.0072	0.0045	0.0049	0.0049	0.0053	0.0044	0.0075	0.0046	0.0045	0.0069	0.0067	0.0017	0.0143	0.0042	0.0150	0	0.0010	0.0204	0.0075	0.0019	0.0027	0.246	0.17353	T	0.122	0.41239	T	0.004	0.12183	B	0.004	0.10090	B	0.334267	0.04149	N	1.567960	1	0.08975	N	.	.	.	.	.	.	-0.4	0.13805	N	0.102	0.18376	-1.0534	0.13466	T	0.040	0.17191	T	9	0.00380525	0.00071	T	.	.	.	0.005	0.00259	0.353	0.35246	0.0138822411134	0.00435	0.06381303198711097	0.06320	.	.	.	.	.	0.016713	0.13762	T	-0.61782	0.00113	T	-0.653409	0.08717	T	0.00163488460081814	0.00017	T	0.508649	0.16166	T	0.04801557	0.08301	0.035852104	0.02916	0.04801557	0.08300	0.035852104	0.02915	-5.667	0.43399	T	.	.	0.178	0.46002	B	.;.	.;.	-0.297818	0.02627	0.330	0.89131792795174947	0.18537	0.06455	0.12462	N	AEFDBCI	0.056442	0.10434	N	-1.39042873836555	0.02727	0.1208298	-1.50786003231585	0.02283	0.1047612	0.972593993847761	0.29384	0.634777	0.41761	0	0.643519	0.57511	0	0.723109	0.80598	0	0.699875	0.68795	0	.	.	3.55	-7.11	0.01389	-1.360000	0.02706	-1.309000	0.05753	0.676000	0.76740	0.000000	0.06391	0.000000	0.08366	0.050000	0.15192	0.2161:0.314:0.3627:0.1072	2.421	0.04177	856	0.34373	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	1298.43	129	chr19	48195621	.	G	T	1298.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.373;DP=456;ExcessHet=0;FS=0.661;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.07;ReadPosRankSum=-1.036;SOR=0.788	GT:AD:DP:GQ:PL	0/1:73,56:129:99:1310,0,2114	9	0	1	0
chr19	48443875	48443875	G	A	exonic	GRIN2D	.	nonsynonymous SNV	GRIN2D:NM_000836:exon14:c.G3949A:p.G1317S	Epileptic encephalopathy, early infantile, 46, Autosomal dominant	439	1065	17	1	0	19	0.00884132	.	.	.	1610322	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.035	.	.	0.0123802	0.0528	0	0.0312	0	0	0.0064	0.0125	0.0720	0.0048641	752	154602	rs191119443	0.0059	0.0058	0.0044	0.0074	0.0551	0.0058	0.0058	0.0537	0.0531	0.0005	0.0040	0.0047	3.448e-05	9.159e-05	0.0051	0.0030	0.0066	0.0551	0.0038	0.0037	0.0032	0.0043	0.0555	0.0035	0.0034	0.0501	0.0479	0.0008	0	0.0037	0.0040	0.0004	0	0	0.0028	0.0033	0.0555	0.401	0.10447	T	0.616	0.07543	T	0.011	0.15914	B	0.01	0.14941	B	0.911519	0.08549	U	0.924145	0.986144	0.24644	N	-0.205	0.04094	N	2.96	0.09542	T	0.17	0.05125	N	0.166	0.17553	-0.9666	0.37894	T	0.005	0.01725	T	10	0.0019791722	0.00028	T	.	.	.	0.035	0.08770	.	.	.	.	0.14639003486082292	0.14561	.	.	0.900060594082	0.96447	D	0.046192	0.27349	T	-0.613197	0.00121	T	-0.612612	0.11774	T	0.0198147061849218	0.00683	T	0.567543	0.20130	T	0.062713966	0.13127	0.07339499	0.15944	0.068769485	0.15009	0.07339499	0.15943	-3.692	0.19200	T	.	.	0.106	0.19839	B	.	.	3.550016	0.49897	22.9	0.9749647172538225	0.34272	0.39949	0.26327	N	AEFDBCI	0.124563	0.24068	N	-0.495661383120007	0.22223	1.185071	-0.335326958120525	0.26967	1.493161	0.999996145135024	0.74766	0.700653	0.57754	0	0.596491	0.49125	0	0.717052	0.78885	0	0.63947	0.58350	0	.	.	3.24	3.24	0.36257	1.751000	0.37967	10.920000	0.84231	0.504000	0.22967	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.1385:0.0:0.8615:0.0	6.535	0.21543	958	0.09170	.	.	.	.	.	rs191119443	Likely benign	0	0	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	0.010808	0.006494	0.004601	0.009615	0.000000	0.000000	0.017730	0.021186	0.05	307.43	18	chr19	48443875	.	G	A	307.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.569;DP=181;ExcessHet=0;FS=0;InbreedingCoeff=-0.0529;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=17.08;ReadPosRankSum=1.18;SOR=0.693	GT:AD:DP:GQ:PL	0/1:6,12:18:99:319,0,162	9	0	1	0
chr19	52067122	52067122	T	C	exonic	ZNF841	.	nonsynonymous SNV	ZNF841:NM_001369830:exon3:c.A412G:p.T138A,ZNF841:NM_001321349:exon5:c.A412G:p.T138A,ZNF841:NM_001369826:exon5:c.A760G:p.T254A,ZNF841:NM_001352298:exon6:c.A760G:p.T254A,ZNF841:NM_001352299:exon6:c.A760G:p.T254A,ZNF841:NM_001369825:exon6:c.A763G:p.T255A,ZNF841:NM_001369828:exon6:c.A760G:p.T254A,ZNF841:NM_001136499:exon7:c.A760G:p.T254A,ZNF841:NM_001369827:exon7:c.A760G:p.T254A,ZNF841:NM_001369829:exon7:c.A760G:p.T254A	.	431	1089	2	0	0	2	0.000917431	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.037	.	.	0.00299521	0.0039	0	0	0	0	0	0	0.0152	0.0012936	200	154602	rs369750870	0.0007	0.0007	0.0004	0.0011	0.0120	0.0007	0.0007	0.0114	0.0112	3.107e-05	2.671e-05	0	5.379e-05	0	0.0003	3.678e-06	0.0007	0.0120	0.0005	0.0005	0.0002	0.0007	0.0135	0.0004	0.0003	0.0108	0.0099	9.62e-05	0	0	0	0	0	0	0	0	0.0135	0.788	0.13349	T	0.263	0.38742	T	0.974	0.57829	D	0.953	0.69275	D	.	.	.	.	1	0.08975	N	1.68	0.43186	L	2.34	0.16351	T	-0.38	0.13418	N	0.019	0.00717	-1.0461	0.15505	T	0.058	0.24465	T	9	0.0055580437	0.00123	T	.	.	.	0.037	0.09474	.	.	0.188950314367	0.18478	0.021517778419263164	0.02104	0.288721649116	0.31282	0.239013701677	0.02703	T	.	.	.	-0.723673	0.00026	T	-0.801895	0.01855	T	0.0305502623573663	0.02075	T	0.237876	0.03362	T	0.019535288	0.00486	0.026971946	0.00817	0.019535288	0.00485	0.026971946	0.00817	-5.289	0.39834	T	.	.	0.075	0.05535	B	.;.;.	.;.;.	-0.090801	0.03695	0.752	0.94154508831863271	0.24354	0.01040	0.03887	N	AEFBCI	0.021707	0.00997	N	-0.790143117489296	0.13566	0.669235	-1.0459557455195	0.08791	0.4340003	0.00287413118125788	0.09767	0.706548	0.73137	0	0.724815	0.89359	0	0.608884	0.39905	0	0.635551	0.53088	0	.	.	1.96	-2.14	0.06725	-0.858000	0.04389	.	.	-0.194000	0.09177	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.2032:0.2907:0.0:0.5061	2.805	0.05092	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	0.002022	0.000000	0.001362	0.000000	0.000000	0.000000	0.000000	0.015152	0.05	2341.43	151	chr19	52067122	.	T	C	2341.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-3.172;DP=474;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=15.51;ReadPosRankSum=-1.53;SOR=0.641	GT:AD:DP:GQ:PL	0/1:70,81:151:99:2353,0,2169	9	0	1	0
chr19	52511465	52511465	C	T	exonic	ZNF578	.	nonsynonymous SNV	ZNF578:NM_001099694:exon6:c.C1084T:p.R362C,ZNF578:NM_001366182:exon6:c.C1084T:p.R362C	.	0	224	2	0	0	2	0.00444444	.	.	.	2693308	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.094	0.00147225469559	7.7e-05	.	0.0002	0	0	0	0.0002	0.0004	0	6.057e-05	0.0002264	35	154602	rs200994015	0.0003	0.0003	0.0003	0.0003	0.0010	0.0003	0.0003	0.0005	0.0003	8.962e-05	0.0001	0	0	0.0002	0.0010	0.0003	0.0002	0.0001	0.0002	0.0002	0.0003	0.0002	0.0004	0.0002	0.0002	0.0003	0.0002	9.621e-05	0	0.0003	0	0	0	0.0034	0.0004	0.0005	0	.	.	.	0.031	0.53788	D	.	.	.	.	.	.	.	.	.	.	0.999999	0.08975	N	1.35	0.33515	L	2.21	0.18414	T	.	.	.	0.09	0.06854	-1.0177	0.24463	T	0.082	0.32148	T	7	0.054403603	0.05786	T	0.001472	0.02241	T	.	.	.	.	0.243972157842	0.24002	0.029594641613372535	0.02908	0.0845940308932	0.09560	.	.	.	0.013991	0.11998	T	-0.53721	0.00348	T	-0.65086	0.08894	T	0.122458937506422	0.14668	T	0.262274	0.04237	T	0.2704103	0.50113	0.17964076	0.40711	0.2704103	0.50113	0.17964076	0.40710	-5.343	0.40366	T	.	.	0.195	0.41557	B	.	.	1.614978	0.20630	14.84	0.89106050341668275	0.18516	0.02284	0.06582	N	AEFBI	0.049754	0.08629	N	-0.532024431405468	0.21051	1.114342	-0.788364451517187	0.14781	0.77408	1.38293913134505E-5	0.02871	0.562547	0.31514	0	0.573888	0.26702	0	0.608884	0.39905	0	0.564101	0.26826	0	.	.	1.48	0.041	0.13529	0.218000	0.17407	.	.	-0.383000	0.05380	0.002000	0.15269	0.000000	0.08366	0.001000	0.02609	0.2425:0.3287:0.2393:0.1895	0.493	0.00528	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	.	.	.	.	.	.	.	.	0.05	3158.43	280	chr19	52511465	.	C	T	3158.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=5.56;DP=1167;ExcessHet=0;FS=1.462;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.28;ReadPosRankSum=-0.781;SOR=0.607	GT:AD:DP:GQ:PL	0/1:170,110:280:99:3170,0,4354	9	0	1	0
chr19	54818396	54818396	A	G	exonic	KIR3DL1;KIR3DS1;LOC112268355	.	nonsynonymous SNV	KIR3DS1:NM_001083539:exon3:c.A152G:p.Y51C,KIR3DL1:NM_001322168:exon3:c.A152G:p.Y51C,LOC112268355:NM_001368254:exon3:c.A152G:p.Y51C,KIR3DL1:NM_013289:exon3:c.A152G:p.Y51C	.	409	1037	58	1	17	77	0.0281162	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.061	.	0.0084	0.00499201	0.0082	0.0014	0.0045	0	0.0020	0.0110	0.0037	0.0109	0.0073156	1131	154602	rs145262243	0.0076	0.0076	0.0075	0.0076	0.0103	0.0075	0.0074	0.0082	0.0076	0.0007	0.0039	0.0344	7.56e-05	0.0024	0.0103	0.0078	0.0082	0.0066	0.0051	0.0050	0.0055	0.0048	0.0072	0.0048	0.0047	0.0066	0.0064	0.0012	0.0077	0.0034	0.0362	0	0.0011	0.0034	0.0072	0.0044	0.0059	0.024	0.48186	D	0.033	0.53072	D	0.022	0.18677	B	0.034	0.22546	B	.	.	.	.	1	0.08975	N	1.95	0.52479	M	2.69	0.12268	T	-2.31	0.51319	N	0.146	0.14763	-1.0581	0.12235	T	0.036	0.15334	T	9	0.007935494	0.00180	T	.	.	.	0.061	0.17616	.	.	0.119812018005	0.11559	0.18560298663992075	0.18478	0.528210940665	0.50417	.	.	.	0.002372	0.01768	T	-0.682385	0.00046	T	-0.742588	0.03782	T	0.0381217510769765	0.03354	T	.	.	.	0.19847932	0.41752	0.14993146	0.35380	0.19847932	0.41752	0.14993146	0.35379	-6.516	0.50410	T	.	.	0.183	0.39731	B	.;.	.;.	0.471660	0.08413	5.168	0.89335038371403175	0.18708	0.00128	0.00795	N	AEFDBI	0.048260	0.08217	N	-1.07536318344464	0.07100	0.3288053	-1.33713906919339	0.03960	0.1857968	2.52494180885675E-5	0.03498	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.25	-2.51	0.05996	-0.314000	0.08132	.	.	-2.965000	0.00148	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.3118:0.4675:0.0:0.2207	2.032	0.03317	982	0.03397	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.007269	0.010204	0.004190	0.003030	0.000000	0.000000	0.019231	0.000000	0.05	3951.43	257	chr19	54818396	.	A	G	3951.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.841;DP=1560;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=15.38;ReadPosRankSum=-1.876;SOR=0.684	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:151,106:257:99:0|1:54818396_A_G:3963,0,5908:54818396	9	0	1	0
chr19	55358524	55358524	C	0	exonic	FAM71E2	.	.	.	.	438	22	102	3	957	1065	0.710526	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.85	2585.36	73	chr19	55358524	.	C	*	2585.36	.	AC=17;AF=0.85;AN=20;BaseQRankSum=1.02;DP=951;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=17;MLEAF=0.85;MQ=60;MQRankSum=0;QD=3.25;ReadPosRankSum=-1.373;SOR=0.834	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,73:73:99:.:.:3225,224,0:.	1	8	1	0
chr19	55358535	55358535	T	0	exonic	FAM71E2	.	.	.	.	454	13	102	3	950	1058	0.80597	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.85	2730.36	73	chr19	55358535	.	T	*	2730.36	.	AC=17;AF=0.85;AN=20;BaseQRankSum=0.818;DP=956;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=17;MLEAF=0.85;MQ=60;MQRankSum=0;QD=3.4;ReadPosRankSum=0.165;SOR=0.934	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,73:73:99:.:.:3225,224,0:.	1	8	1	0
chr19	55513092	55513092	G	T	exonic	SSC5D	.	nonsynonymous SNV	SSC5D:NM_001144950:exon13:c.G2867T:p.G956V	.	420	1101	1	0	0	1	0.000453926	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.035	0.00872518189615	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.43e-06	2.052e-06	0	2.9e-06	9.274e-07	2.4e-07	9e-08	.	.	0	0	0	0	0	0	9.274e-07	1.725e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	0.56456	D	0.034	0.52727	D	0.437	0.35811	B	0.108	0.31289	B	.	.	.	.	1	0.08975	N	0.895	0.22405	L	4.91	0.01413	T	-0.09	0.08340	N	0.135	0.13198	-0.9607	0.39050	T	0.005	0.01688	T	9	0.10866365	0.20237	T	0.008725	0.23025	T	0.035	0.08770	0.464	0.53404	0.0401082797425	0.02173	0.2831891914565714	0.28231	0.0264939278089	0.02708	0.277382791042	0.07130	T	0.010862	0.09766	T	-0.277932	0.10887	T	-0.637007	0.09888	T	0.112168523841548	0.13647	T	0.508649	0.16166	T	0.042842507	0.06570	0.05884488	0.10942	0.042842507	0.06570	0.05884488	0.10941	-6.185	0.47801	T	.	.	0.125	0.26482	B	.	.	0.861922	0.12343	8.883	0.79676536692223499	0.12850	0.01235	0.04363	N	AEFBI	0.038664	0.05506	N	-0.987340426412752	0.08873	0.4177448	-1.1684334673802	0.06444	0.3101761	0.00122716859316664	0.08353	0.516011	0.20929	0	0.59043	0.45803	0	0.547309	0.15389	0	0.586402	0.36253	0	.	.	2.91	-2.28	0.06438	-0.062000	0.11631	-0.110000	0.11840	-0.199000	0.08999	0.001000	0.13787	0.000000	0.08366	0.005000	0.06747	0.2637:0.4104:0.3259:0.0	4.059	0.09307	958	0.09170	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	768.43	67	chr19	55513092	.	G	T	768.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.66;DP=390;ExcessHet=0;FS=2.063;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.47;ReadPosRankSum=-0.309;SOR=1.074	GT:AD:DP:GQ:PL	0/1:37,30:67:99:780,0,884	9	0	1	0
chr19	58562965	58562965	G	C	exonic	MZF1	.	nonsynonymous SNV	MZF1:NM_003422:exon6:c.C1312G:p.Q438E,MZF1:NM_198055:exon6:c.C1312G:p.Q438E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.050	0.0166526145939	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.142e-06	4.104e-06	5.496e-06	2.775e-06	5.401e-06	1.49e-06	9.8e-07	1.94e-06	1.28e-06	0	0	0	0	0	0	5.401e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009	0.57480	D	0.019	0.59159	D	0.779	0.44223	P	0.281	0.40336	B	0.002245	0.36929	N	0.000000	0.649555	0.30545	N	0.015	0.07966	N	2.26	0.17596	T	-0.34	0.12661	N	0.254	0.29544	-1.0967	0.04514	T	0.021	0.09056	T	10	0.123583555	0.23461	T	0.016653	0.38007	T	0.050	0.13987	0.35	0.34760	0.494500980894	0.49084	0.12532299617057827	0.12458	0.351201735041	0.36964	0.770335018635	0.77475	T	0.101142	0.40761	T	-0.24823	0.14316	T	-0.594342	0.13292	T	0.518106730616632	0.33296	D	0.310469	0.06031	T	0.12377291	0.29056	0.14509374	0.34425	0.12377291	0.29056	0.14509374	0.34424	-5.064	0.37526	T	.	.	0.190	0.40794	B	.;.	.;.	3.850363	0.55778	23.7	0.98976759904038047	0.49640	0.61424	0.31480	D	AEFDGBHIJ	0.265472	0.38259	N	-0.109516186035965	0.36977	2.144843	-0.060961733911379	0.37019	2.161979	0.999999982634335	0.74766	0.789315	0.99827	0	0.52208	0.09955	0	0.768056	0.98339	0	0.71	0.69187	0	.	.	3.46	3.46	0.38718	0.186000	0.16787	1.013000	0.23346	0.618000	0.50648	0.000000	0.06391	0.147000	0.23145	0.883000	0.42306	0.0:0.0:0.7648:0.2352	8.336	0.31374	952	0.10565	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	.	.	.	.	.	.	.	.	0.1	2360.14	93	chr19	58562965	.	G	C	2360.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=2.42;DP=456;ExcessHet=0.2348;FS=5.459;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=13.56;ReadPosRankSum=1.61;SOR=1.094	GT:AD:DP:GQ:PL	0/1:41,52:93:99:1501,0,1037	8	0	2	0
chr19	58571272	58571272	G	A	exonic	MZF1	.	nonsynonymous SNV	MZF1:NM_001267033:exon2:c.C118T:p.P40S,MZF1:NM_003422:exon2:c.C118T:p.P40S,MZF1:NM_198055:exon2:c.C118T:p.P40S	.	420	1101	1	0	0	1	0.000453926	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.037	.	0.0005	0.0135783	0.0042	0.0005	9.346e-05	0.0489	0	0.0001	0.0037	0.0046	0.0040232	622	154602	rs11557617	0.0021	0.0021	0.0020	0.0023	0.0592	0.0021	0.0021	0.0572	0.0564	0.0004	8.962e-05	0	0.0592	0	0.0007	9.984e-05	0.0038	0.0048	0.0021	0.0021	0.0019	0.0022	0.0487	0.0019	0.0018	0.0438	0.0419	0.0005	0	0.0003	0	0.0487	0	0	5.881e-05	0.0019	0.0066	0.572	0.06145	T	0.045	0.49390	D	0.084	0.24799	B	0.077	0.28532	B	0.127254	0.18774	N	0.390912	0.941574	0.26776	N	1.65	0.42232	L	3.39	0.05710	T	-0.79	0.21860	N	0.241	0.37093	-1.0082	0.27479	T	0.002	0.00707	T	9	0.003115654	0.00052	T	.	.	.	0.037	0.09474	.	.	0.336155897331	0.33225	0.5333883137293937	0.53263	0.289516481914	0.31364	0.598865032196	0.52744	T	0.101817	0.66410	T	-0.580611	0.00191	T	-0.545935	0.17718	T	0.0121366811207368	0.00193	T	0.430857	0.28201	T	0.14260836	0.32812	0.098404296	0.23460	0.14260836	0.32811	0.098404296	0.23459	-9.705	0.72954	D	.	.	0.171	0.38025	B	.;.;.;.;.	.;.;.;.;.	2.720594	0.35583	19.94	0.99831639199648325	0.91284	0.36670	0.25586	N	AEFDBIJ	0.079327	0.16021	N	-0.449052395559032	0.23772	1.278954	-0.428818191842389	0.24156	1.321211	0.99999991193212	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.643519	0.47002	0	0.635551	0.53088	0	.	.	4.35	3.31	0.37025	0.540000	0.22900	5.242000	0.48065	0.676000	0.76740	0.001000	0.13787	1.000000	0.68203	0.994000	0.71098	0.1106:0.0:0.8894:0.0	8.084	0.29922	952	0.10565	.;SCAN domain|SCAN domain|SCAN domain;SCAN domain|SCAN domain|SCAN domain;SCAN domain|SCAN domain|SCAN 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	0.001512	0.000000	0.000000	0.000000	0.000000	0.000000	0.006135	0.003788	0.05	1467.43	89	chr19	58571272	.	G	A	1467.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.385;DP=423;ExcessHet=0;FS=2.885;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=16.49;ReadPosRankSum=-1.286;SOR=0.984	GT:AD:DP:GQ:PL	0/1:35,54:89:99:1479,0,892	9	0	1	0
chr20	3082760	3082760	C	T	exonic	AVP	.	nonsynonymous SNV	AVP:NM_000490:exon3:c.G365A:p.R122H	Diabetes insipidus, neurohypophyseal, Autosomal dominant	12	1506	4	0	0	4	0.00132626	.	.	.	2137009	Inborn_genetic_diseases|not_provided	MeSH:D030342,MedGen:C0950123|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.314	.	.	0.000399361	0.0261	.	0	0	.	0	0	0.0307	0.0001164	18	154602	rs549545938	0.0002	0.0002	0.0001	0.0002	0.0043	0.0001	0.0001	0.0038	0.0035	0	0.0001	0	0	0	0.0003	8.488e-06	0.0004	0.0043	9.233e-05	9.193e-05	6.45e-05	0.0001	0.0021	5.548e-05	4.38e-05	0.0011	0.0009	0	0	0	0	0	0	0	5.904e-05	0	0.0021	0.085	0.32769	T	0.041	0.50514	D	0.997	0.70673	D	0.683	0.53559	P	0.006253	0.32164	N	0.255699	1	0.08975	N	2.215	0.62545	M	-4.25	0.97054	D	-0.49	0.15578	N	0.076	0.05037	0.296	0.87496	D	0.791	0.92917	D	10	0.0065873265	0.00149	T	.	.	.	0.314	0.63588	0.386	0.40624	0.994563733753	0.99450	0.38411864539401724	0.38326	0.68430610145	0.60211	0.732278764248	0.71839	T	0.114361	0.43212	T	-0.20407	0.20219	T	-0.0652299	0.65964	T	0.122880162436963	0.14709	T	0.624837	0.24114	T	0.08540013	0.19808	0.09721158	0.23130	0.07577989	0.17095	0.106729135	0.25680	-5.839	0.44913	T	.	.	0.108	0.20313	B	.	.	3.350368	0.46210	22.3	0.99890620438818334	0.96513	0.15115	0.18752	N	AEFDBHI	0.068088	0.13416	N	-0.311088638870626	0.28726	1.586844	-0.403878540627956	0.24883	1.365146	0.999651936875583	0.41424	0.59774	0.34471	0	0.59043	0.45803	0	0.608004	0.38603	0	0.63947	0.58350	0	.	.	4.37	3.39	0.37919	0.296000	0.18839	2.133000	0.30793	0.502000	0.22824	0.001000	0.13787	1.000000	0.68203	0.772000	0.36596	0.1816:0.8184:0.0:0.0	11.464	0.49473	840	0.37365	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001555	0.000000	0.000000	0.000000	0.000000	0.014706	0.000000	0.000000	0.1	1366.14	43	chr20	3082760	.	C	T	1366.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=2.43;DP=287;ExcessHet=0.2348;FS=0;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=17.51;ReadPosRankSum=-0.238;SOR=0.793	GT:AD:DP:GQ:PL	0/1:13,30:43:99:809,0,194	8	0	2	0
chr20	3705864	3705864	C	T	exonic	SIGLEC1	.	nonsynonymous SNV	SIGLEC1:NM_001367089:exon3:c.G586A:p.V196I,SIGLEC1:NM_023068:exon4:c.G586A:p.V196I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.141	0.0219512541813	.	.	3.299e-05	0	8.64e-05	0.0001	0	3.002e-05	0	0	4.53e-05	7	154602	rs745472020	4.105e-06	4.104e-06	5.445e-06	2.75e-06	5.038e-05	1.48e-06	9.7e-07	8.35e-06	3.12e-06	0	2.236e-05	0	5.038e-05	0	0	2.698e-06	0	0	1.971e-05	1.97e-05	1.284e-05	2.689e-05	7.232e-05	5.24e-06	2.45e-06	1.918e-05	1.031e-05	7.232e-05	0	0	0	0	0	0	0	0	0	0.363	0.11807	T	0.777	0.04372	T	0.162	0.28404	B	0.022	0.19653	B	0.656192	0.10468	N	0.798511	1	0.08975	N	-0.355	0.03127	N	-1.07	0.76948	T	-0.48	0.15379	N	0.073	0.04668	-1.0125	0.26133	T	0.186	0.53631	T	10	0.059565783	0.07181	T	0.021951	0.44785	T	0.141	0.37795	0.201	0.11522	0.396645960531	0.39282	0.06842486880266611	0.06780	0.105708572132	0.11951	0.263902902603	0.05364	T	0.204689	0.56352	T	-0.44808	0.01159	T	-0.616984	0.11422	T	0.0486358661772412	0.05257	T	0.558744	0.19484	T	0.025470912	0.01489	0.043481164	0.05418	0.025470912	0.01488	0.043481164	0.05418	-4.665	0.32978	T	.	.	0.07	0.03479	B	.	.	-0.895936	0.00932	0.035	0.79266953525668238	0.12664	0.00489	0.02319	N	AEFDBI	0.053998	0.09779	N	-1.68049636004167	0.00913	0.0395394	-1.77180340056427	0.00854	0.03814817	0.980020661655821	0.30090	0.580535	0.33130	0	0.59043	0.45803	0	0.576033	0.28219	0	0.542086	0.14980	0	.	.	4.68	-7.08	0.01404	-1.093000	0.03473	-1.512000	0.05273	-1.020000	0.01735	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.0:0.6103:0.0:0.3897	14.418	0.66740	749	0.51929	CD80-like, immunoglobulin C2-set|Immunoglobulin-like domain|Immunoglobulin subtype	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	1565.43	128	chr20	3705864	.	C	T	1565.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.831;DP=491;ExcessHet=0;FS=4.193;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.23;ReadPosRankSum=0.031;SOR=1.053	GT:AD:DP:GQ:PL	0/1:65,63:128:99:1577,0,1564	9	0	1	0
chr20	3803192	3803192	G	C	exonic	CDC25B	.	nonsynonymous SNV	CDC25B:NM_001287524:exon9:c.G766C:p.G256R,CDC25B:NM_001287518:exon12:c.G1069C:p.G357R,CDC25B:NM_001287522:exon12:c.G883C:p.G295R,CDC25B:NM_021872:exon12:c.G1219C:p.G407R,CDC25B:NM_001287516:exon13:c.G1150C:p.G384R,CDC25B:NM_001287517:exon13:c.G1108C:p.G370R,CDC25B:NM_001287519:exon13:c.G1006C:p.G336R,CDC25B:NM_001287520:exon13:c.G1006C:p.G336R,CDC25B:NM_004358:exon13:c.G1300C:p.G434R,CDC25B:NM_021873:exon13:c.G1342C:p.G448R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.774	0.123202022054	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0006	0.0011	0.0007	0.0006	0.0008	0.0006	0.0006	0.0007	0.0007	0.0006	0	0.0002	7.607e-05	0	0.0002	0.0008	0.0004	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.91255	D	0.002	0.79402	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.085	0.87354	M	1.81	0.25182	T	-7.58	0.95276	D	0.931	0.98268	-0.6717	0.61752	T	0.200	0.55640	T	10	0.98157537	0.98189	D	0.123202	0.80433	D	0.774	0.92419	0.92	0.98568	0.736929849786	0.73457	0.9132364924811667	0.91297	2.14713465814	0.95289	0.696103453636	0.66582	T	0.201973	0.83660	T	0.280949	0.81396	D	0.165788	0.81157	D	0.999002754688263	0.95858	D	0.989968	0.96869	D	0.92810935	0.94047	0.8602535	0.92196	0.92810935	0.94048	0.8602535	0.92197	-11.248	0.81537	D	.	.	0.994	0.95995	P	.;.;.;.;.	.;.;.;.;.	5.603180	0.92472	32	0.99900572155913103	0.97275	0.97177	0.73143	D	AEFGBCI	0.864053	0.78274	D	0.851518238386656	0.89196	9.872593	0.791774268680612	0.89217	9.884684	0.999999999996727	0.74766	0.706548	0.73137	0	0.696144	0.67643	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.24	5.24	0.72863	7.420000	0.79394	11.730000	0.94979	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.879000	0.42020	0.0:0.0:1.0:0.0	16.698	0.85199	809	0.43032	Rhodanese-like domain|Rhodanese-like domain|Rhodanese-like domain;Rhodanese-like domain|Rhodanese-like domain|Rhodanese-like domain;Rhodanese-like domain|Rhodanese-like domain|Rhodanese-like domain;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4375	1195.34	115	chr20	3803192	.	G	C	1195.34	.	AC=7;AF=0.438;AN=16;BaseQRankSum=-1.757;DP=1072;ExcessHet=7.0302;FS=201.816;InbreedingCoeff=-0.6709;MLEAC=8;MLEAF=0.5;MQ=60;MQRankSum=0;QD=1.68;ReadPosRankSum=1.67;SOR=11.816	GT:AD:DP:GQ:PL	0/1:65,32:115:46:46,0,1000	1	0	7	2
chr20	34852409	34852409	G	C	exonic	GGT7	.	nonsynonymous SNV	GGT7:NM_001351702:exon11:c.C1449G:p.D483E,GGT7:NM_178026:exon11:c.C1449G:p.D483E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.296	0.0112495980913	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.422e-06	6.02e-05	1.362e-06	5.502e-06	2.988e-05	1e-06	7.3e-07	8.4e-07	5.7e-07	2.988e-05	0	0	0	0	0	3.599e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.089	0.32141	T	0.012	0.63918	D	0.994	0.66517	D	0.926	0.66095	D	0.000000	0.84330	D	0.000000	0.999841	0.49770	D	2.215	0.62545	M	1.98	0.21865	T	-1.73	0.41046	N	0.499	0.53181	-1.0404	0.17192	T	0.128	0.43585	T	10	0.5826987	0.65938	D	0.01125	0.28682	T	0.296	0.61616	0.689	0.82653	0.228066490088	0.22430	0.82941257752094	0.82899	0.68760950996	0.60391	0.738000631332	0.72679	T	0.103498	0.41220	T	0.0708259	0.60949	D	-0.13604	0.60460	T	0.885277701002196	0.53559	D	0.910309	0.68205	D	0.41792053	0.61953	0.41181666	0.65402	0.41792053	0.61953	0.41181666	0.65402	-4.579	0.31907	T	.	.	0.782	0.76474	P	.	.	5.638633	0.92727	33	0.99733629509333355	0.82975	0.97405	0.74540	D	AEFDBI	0.720442	0.67100	D	0.820974805350757	0.87399	9.204616	0.835720227276759	0.92153	11.26631	0.92021159446374	0.26625	0.732398	0.92422	0	0.709663	0.81188	0	0.743671	0.96076	0	0.567892	0.33627	0	.	.	6.17	6.17	0.99707	4.488000	0.60028	9.966000	0.82830	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0685:0.0:0.9315:0.0	13.996	0.63912	522	0.74218	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4	2382.99	178	chr20	34852409	.	G	C	2382.99	.	AC=8;AF=0.4;AN=20;BaseQRankSum=-3.363;DP=1624;ExcessHet=10.3881;FS=297.982;InbreedingCoeff=-0.6669;MLEAC=8;MLEAF=0.4;MQ=60;MQRankSum=0;QD=2.05;ReadPosRankSum=1.03;SOR=10.005	GT:AD:DP:GQ:PL	0/1:114,60:178:99:151,0,1549	2	0	8	0
chr20	34998421	34998421	G	A	exonic	MYH7B	.	nonsynonymous SNV	MYH7B:NM_020884:exon33:c.G4000A:p.G1334R	.	.	.	.	.	.	.	.	1.0000	1.0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.610	.	.	.	1.673e-05	0.0002	0	0	0	0	0	0	1.29e-05	2	154602	rs372128121	8.899e-06	9.577e-06	8.174e-06	9.632e-06	2.519e-05	4.97e-06	3.83e-06	4.55e-06	3.32e-06	0	0	0	2.519e-05	0	0	8.993e-06	0	2.32e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.028	0.54934	D	.	.	.	.	.	.	0.001624	0.38439	N	0.000000	1	0.81001	D	.	.	.	-1.69	0.82985	D	-5.42	0.85247	D	0.618	0.63374	0.819	0.94645	D	0.779	0.92488	D	10	0.8264601	0.81823	D	0.057995	0.67162	D	0.610	0.84719	.	.	0.792808343696	0.79088	0.48224683681404035	0.48144	0.638098247504	0.57551	0.570439219475	0.48740	T	.	.	.	-0.0388461	0.46119	T	-0.0569077	0.66548	D	0.985058307647705	0.76164	D	0.973103	0.90315	D	0.25171784	0.48182	0.22068338	0.46853	0.25171784	0.48182	0.22068338	0.46852	-9.984	0.73816	D	.	.	0.322	0.54653	B	.;.	.;.	5.832927	0.93748	33	0.99892531391290318	0.96589	0.98776	0.86705	D	AEFDBCI	0.967336	0.98981	D	0.831325096218162	0.88020	9.424359	0.696684781914116	0.82127	7.690654	0.99999999999834	0.74766	0.648878	0.45929	0	0.379588	0.06130	0	0.596394	0.31383	0	0.711	0.71501	0	.	.	4.73	4.73	0.59485	9.815000	0.98279	11.936000	0.99985	0.671000	0.69459	1.000000	0.71638	1.000000	0.68203	0.069000	0.16583	0.0:0.0:1.0:0.0	17.902	0.88823	621	0.65931	Myosin tail;Myosin tail	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1816.43	108	chr20	34998421	.	G	A	1816.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=3.73;DP=499;ExcessHet=0;FS=4.734;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=16.82;ReadPosRankSum=-0.459;SOR=0.378	GT:AD:DP:GQ:PL	0/1:50,58:108:99:1828,0,1276	9	0	1	0
chr20	35176182	35176182	C	T	exonic	PROCR	.	nonsynonymous SNV	PROCR:NM_006404:exon3:c.C337T:p.R113C	.	418	1102	2	0	0	2	0.000906618	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.683	0.0622122122142	0.0024	0.000599042	0.0017	0.0003	0.0003	0	0.0021	0.0026	0.0011	0.0004	0.0015718	243	154602	rs146420040	0.0019	0.0019	0.0019	0.0019	0.0023	0.0018	0.0018	0.0022	0.0022	0.0004	0.0008	0.0002	0	0.0014	0.0007	0.0023	0.0015	0.0004	0.0014	0.0014	0.0016	0.0012	0.0025	0.0012	0.0012	0.0022	0.0021	0.0005	0	0.0005	0.0003	0	0.0006	0.0035	0.0025	0.0014	0.0002	0.011	0.55530	D	0.031	0.53788	D	0.998	0.73220	D	0.734	0.55432	P	0.255588	0.15419	N	0.653877	0.998234	0.24467	N	2.425	0.70256	M	-1.68	0.82897	D	-4.49	0.78046	D	0.806	0.80180	-0.3592	0.73287	T	0.483	0.80285	T	10	0.12381315	0.23508	T	0.062212	0.68581	D	0.683	0.88396	.	.	0.88576274008	0.88464	0.673770665950426	0.67315	0.589731283567	0.54461	0.332381784916	0.15294	T	0.321455	0.69255	T	-0.130209	0.31461	T	0.0352608	0.72620	D	0.051731185773291	0.05801	T	0.849215	0.53152	T	0.403985	0.61008	0.24753031	0.50285	0.403985	0.61008	0.24753031	0.50284	-6.077	0.46919	T	.	.	0.217	0.44630	B	.	.	3.873946	0.56256	23.7	0.99877956461658446	0.95491	0.50759	0.28737	D	AEFDBI	0.187621	0.31491	N	0.16863455071315	0.49696	3.167187	0.0684881997569066	0.42976	2.608944	0.0958922438975643	0.16237	0.706298	0.61202	0	0.573888	0.26702	0	0.709663	0.75317	0	0.711	0.71501	0	.	.	5.6	0.951	0.18703	0.181000	0.16691	-0.473000	0.08966	0.589000	0.31548	0.847000	0.30396	0.009000	0.19889	0.994000	0.71098	0.4866:0.3958:0.1175:0.0	8.929	0.34817	415	0.81806	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	0.002014	0.000000	0.006793	0.000000	0.000000	0.008621	0.000000	0.000000	0.1	1689.14	85	chr20	35176182	.	C	T	1689.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=2.39;DP=459;ExcessHet=0.2348;FS=2.109;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=11.19;ReadPosRankSum=0.556;SOR=0.91	GT:AD:DP:GQ:PL	0/1:51,34:85:99:887,0,1252	8	0	2	0
chr20	36446779	36446779	C	T	exonic	DLGAP4	.	nonsynonymous SNV	DLGAP4:NM_001365621:exon7:c.C1490T:p.T497M,DLGAP4:NM_014902:exon7:c.C1490T:p.T497M	.	432	1082	8	0	0	8	0.00368324	.	.	.	2286454	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.357	0.0920834244022	0.0002	0.000199681	0.0002	0	0.0004	0	0	0.0003	0	0.0001	0.000207	32	154602	rs192489219	0.0002	0.0002	0.0002	0.0003	0.0062	0.0002	0.0002	0.0046	0.0041	0.0002	0.0006	0	0	0	0.0062	0.0002	0.0005	0.0003	0.0002	0.0002	0.0002	0.0002	0.0004	0.0001	9.695e-05	0.0002	0.0001	7.216e-05	0	0.0004	0	0	0	0.0034	0.0002	0	0.0002	0.003	0.72154	D	0.071	0.44106	T	0.008	0.14655	B	0.003	0.08700	B	0.007455	0.31390	N	0.365553	0.997501	0.22632	N	-0.895	0.01383	N	-2.51	0.89293	D	-0.89	0.24460	N	0.254	0.28732	-0.6641	0.62095	T	0.306	0.67685	T	10	0.04709211	0.03983	T	0.092083	0.75825	D	0.357	0.67782	.	.	0.708804461636	0.70626	0.2868838773768702	0.28601	0.560121123074	0.52549	0.361344277859	0.19581	T	0.031847	0.22228	T	-0.173202	0.24752	T	-0.152419	0.59029	T	0.047667719182149	0.05085	T	0.948505	0.80194	D	0.063621186	0.13416	0.06806646	0.14166	0.063621186	0.13416	0.06806646	0.14166	-6.585	0.51388	T	.	.	0.087	0.14568	B	.;.;.;.	.;.;.;.	3.020568	0.40428	21.2	0.98711629417181601	0.45069	0.66660	0.33155	D	AEFDGBCI	0.178844	0.30612	N	-0.519810980954055	0.21440	1.137831	-0.314450779623496	0.27632	1.534635	0.998803929957331	0.37711	0.643511	0.44296	0	0.610034	0.51514	0	0.688494	0.62686	0	0.542086	0.14980	0	.	.	5.66	3.53	0.39533	2.247000	0.42803	4.002000	0.41083	0.599000	0.40250	0.975000	0.34726	1.000000	0.68203	0.624000	0.32000	0.0:0.7098:0.0:0.2902	6.841	0.23145	564	0.70960	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.006546	0.000000	0.008152	0.011696	0.000000	0.008621	0.003049	0.000000	0.05	951.43	69	chr20	36446779	.	C	T	951.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.559;DP=381;ExcessHet=0;FS=6.381;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.79;ReadPosRankSum=-1.649;SOR=0.772	GT:AD:DP:GQ:PL	0/1:32,37:69:99:963,0,848	9	0	1	0
chr20	36876199	36876219	ACTCGGCTGGTAAGGGTTCCA	-	exonic	TLDC2	.	nonframeshift deletion	TLDC2:NM_001304783:exon1:c.25_33del:p.T9_L11del,TLDC2:NM_080628:exon1:c.25_33del:p.T9_L11del	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	613.39	62	chr20	36876198	.	CACTCGGCTGGTAAGGGTTCCA	C	613.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.16;DP=376;ExcessHet=0;FS=1.063;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.89;ReadPosRankSum=-0.503;SOR=0.914	GT:AD:DP:GQ:PL	0/1:44,18:62:99:625,0,1792	9	0	1	0
chr20	37007453	37007453	C	G	exonic	RBL1	.	nonsynonymous SNV	RBL1:NM_001323281:exon19:c.G1548C:p.K516N,RBL1:NM_001323282:exon20:c.G1548C:p.K516N,RBL1:NM_002895:exon20:c.G2829C:p.K943N,RBL1:NM_183404:exon20:c.G2829C:p.K943N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.645	0.0858146876721	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0.0024	0.0002	0.0002	0.0003	0.0002	0.0002	0.0002	0.0002	0.0003	2.269e-05	7.792e-05	7.702e-05	3.801e-05	0	0.0003	0.0002	7.038e-05	6.586e-06	6.573e-06	1.287e-05	0	.	0	0	.	.	0	0	0	0	0	9.495e-05	0	0	0	0	0.002	0.72154	D	0.005	0.72224	D	0.738	0.48822	P	0.765	0.56630	P	0.000005	0.62929	D	0.104648	0.973806	0.39053	D	3.28	0.90206	M	-3.12	0.92774	D	-3.34	0.66325	D	0.708	0.71143	0.840	0.94902	D	0.839	0.94628	D	10	0.8987119	0.89228	D	0.085815	0.74611	D	0.645	0.86536	0.835	0.94294	0.945463439951	0.94489	0.6022124185921854	0.60152	0.625094447251	0.56694	0.728086709976	0.71226	T	0.758	0.93414	D	0.118849	0.66256	D	-0.0670579	0.65836	T	0.990135967731476	0.80349	D	0.882912	0.61284	D	0.88073915	0.89727	0.67431754	0.80880	0.88073915	0.89729	0.67431754	0.80881	-10.734	0.78179	D	.	.	0.883	0.81684	P	.;.	.;.	3.686440	0.52496	23.2	0.9987577306951968	0.95244	0.83174	0.42314	D	AEFBI	0.222942	0.34736	N	0.416761997621375	0.62342	4.448737	0.369751200552894	0.59705	4.150779	0.977451831980098	0.29823	0.732398	0.92422	0	0.708844	0.79440	0	0.658983	0.55881	0	0.727631	0.95156	0	.	.	5.29	3.32	0.37134	0.426000	0.21081	0.386000	0.17834	0.446000	0.21189	0.998000	0.41325	0.994000	0.32194	0.992000	0.67800	0.0:0.7242:0.0:0.2758	9.678	0.39217	793	0.45818	Retinoblastoma-associated protein, B-box;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1	181.73	133	chr20	37007453	.	C	G	181.73	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-4.577;DP=634;ExcessHet=0.2348;FS=158.382;InbreedingCoeff=-0.1043;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=0.76;ReadPosRankSum=2.37;SOR=7.743	GT:AD:DP:GQ:PL	0/1:104,27:133:99:189,0,2266	8	0	2	0
chr20	50609578	50609578	C	T	exonic	RIPOR3	.	nonsynonymous SNV	RIPOR3:NM_001290268:exon7:c.G571A:p.A191T,RIPOR3:NM_080829:exon7:c.G559A:p.A187T	.	421	1100	1	0	0	1	0.000454339	.	.	.	3316151	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.052	0.00386541118707	.	0.000399361	.	.	.	.	.	.	.	.	7.68e-05	2	26028	rs150236153	2.594e-05	2.736e-05	2.897e-05	2.272e-05	0.0006	1.85e-05	1.627e-05	0.0004	0.0004	3.683e-05	0	0	0.0006	0	0.0002	4.878e-06	5.696e-05	3.283e-05	3.94e-05	3.937e-05	5.141e-05	2.686e-05	0.0006	1.715e-05	1.129e-05	0.0002	8.378e-05	0	0	0	0	0.0006	0	0	4.412e-05	0	0	1.0	0.00964	T	1.0	0.01155	T	0.001	0.07471	B	0.0	0.01387	B	0.151444	0.17954	N	0.606507	0.999162	0.21555	N	.	.	.	4.61	0.01851	T	3.57	0.00082	N	0.094	0.07398	-0.9557	0.39970	T	0.001	0.00287	T	10	0.015509993	0.00326	T	0.003865	0.09055	T	0.052	0.14661	.	.	0.0401082797425	0.02173	0.060437283224982374	0.05983	0.0921549829616	0.10406	0.374439179897	0.21466	T	0.033536	0.22955	T	-0.391064	0.02648	T	-0.799513	0.01915	T	0.0442298336044189	0.04463	T	0.39496	0.09912	T	0.025052056	0.01401	0.046762332	0.06587	0.025052056	0.01400	0.046762332	0.06587	-1.521	0.01807	T	.	.	0.062	0.01197	B	.;.	.;.	0.630750	0.09991	6.746	0.5344495922378345	0.04941	0.06637	0.12655	N	AEFDBI	0.039143	0.05645	N	-1.44696660894155	0.02241	0.09873631	-1.26544442465266	0.04905	0.2325458	0.00189259774156388	0.08984	0.700653	0.57754	0	0.547309	0.14657	0	0.717052	0.78885	0	0.562822	0.20929	0	.	.	5.2	-3.32	0.04663	0.279000	0.18532	-1.498000	0.05304	-0.182000	0.10109	0.997000	0.40164	0.000000	0.08366	0.023000	0.12082	0.2279:0.2003:0.1232:0.4486	0.712	0.00867	972	0.05671	FAM65, N-terminal;FAM65, 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	1	0	.	.	.	.	.	.	.	.	0.05	279.43	38	chr20	50609578	.	C	T	279.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.24;DP=331;ExcessHet=0;FS=4.913;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=7.35;ReadPosRankSum=1.65;SOR=0.502	GT:AD:DP:GQ:PL	0/1:25,13:38:99:291,0,673	9	0	1	0
chr20	54028628	54028628	C	A	exonic	BCAS1	.	nonsynonymous SNV	BCAS1:NM_001316361:exon4:c.G487T:p.V163F,BCAS1:NM_001323347:exon4:c.G487T:p.V163F,BCAS1:NM_001366295:exon4:c.G487T:p.V163F,BCAS1:NM_001366296:exon4:c.G487T:p.V163F,BCAS1:NM_001366297:exon4:c.G487T:p.V163F,BCAS1:NM_001366298:exon4:c.G487T:p.V163F,BCAS1:NM_003657:exon4:c.G487T:p.V163F	.	429	1034	56	3	0	62	0.029108	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.031	.	0.0072	0.0121805	0.0122	0.0023	0.0054	0.0032	0.0023	0.0092	0.0143	0.0435	0.0110542	1709	154602	rs61754122	0.0082	0.0082	0.0068	0.0095	0.0435	0.0080	0.0080	0.0423	0.0419	0.0025	0.0055	0.0216	0.0013	0.0018	0.0244	0.0057	0.0100	0.0435	0.0068	0.0068	0.0064	0.0073	0.0425	0.0065	0.0063	0.0378	0.0359	0.0024	0	0.0058	0.0187	0.0021	0.0023	0.0238	0.0077	0.0085	0.0425	0.012	0.58626	D	0.046	0.49120	D	0.868	0.47740	P	0.32	0.41729	B	0.277183	0.15013	N	0.648898	1	0.08975	N	0.69	0.16971	N	3.3	0.06368	T	-1.09	0.28290	N	0.055	0.03175	-0.9612	0.38955	T	0.007	0.02598	T	10	0.0027716756	0.00043	T	.	.	.	0.067	0.19503	.	.	.	.	0.03992220136706161	0.03938	0.289761338798	0.31384	0.328943371773	0.14774	T	0.021546	0.16761	T	-0.480598	0.00733	T	-0.432422	0.29661	T	0.0165141970174594	0.00415	T	0.69603	0.30552	T	0.05788448	0.11576	0.05855628	0.10839	0.05788448	0.11576	0.05855628	0.10839	-6.569	0.50816	T	.	.	0.094	0.19235	B	.;.;.	.;.;.	1.223381	0.16175	12.37	0.99409088839058579	0.63169	0.09415	0.15175	N	AEFDBCI	0.158754	0.28445	N	-0.719141057650663	0.15484	0.7807461	-0.817846634436971	0.14063	0.7328977	0.999540203599691	0.40300	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.87	0.45	0.15835	0.146000	0.16000	0.467000	0.18675	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.008000	0.08271	0.2632:0.4301:0.0:0.3067	2.756	0.04969	985	0.02828	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.021148	0.020202	0.019022	0.017544	0.000000	0.008621	0.030488	0.022727	0.1	3444.14	121	chr20	54028628	.	C	A	3444.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=0.68;DP=516;ExcessHet=0.2348;FS=7.311;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=14.85;ReadPosRankSum=0.426;SOR=0.399	GT:AD:DP:GQ:PL	0/1:53,68:121:99:1958,0,1585	8	0	2	0
chr20	56524998	56524998	C	T	exonic	FAM209A	.	nonsynonymous SNV	FAM209A:NM_001012971:exon1:c.C190T:p.L64F	.	431	1064	27	0	0	27	0.012529	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.005	0.00221928690667	.	.	0.0001	0.0002	0.0003	0	0	0.0001	0	0.0001	3.84e-05	1	26028	rs2019515	1.028e-05	0.0004	6.814e-06	1.378e-05	0.0001	6.17e-06	4.89e-06	5.428e-05	4.065e-05	0	0	0	2.519e-05	0	0	2.701e-06	3.317e-05	0.0001	1.981e-05	0.0003	0	4.056e-05	0.0002	5.27e-06	2.46e-06	4.91e-06	1.84e-06	0	0	0	0	0	0	0	2.959e-05	0	0.0002	0.612	0.05436	T	0.773	0.04431	T	0.002	0.09854	B	0.004	0.10090	B	0.300512	0.03952	N	1.580940	1	0.08975	N	0.895	0.22405	L	3.04	0.08810	T	0.08	0.06026	N	0.062	0.03392	-0.9840	0.34069	T	0.011	0.03949	T	10	0.02841866	0.00974	T	0.002219	0.04206	T	0.005	0.00259	.	.	0.0297737177859	0.01360	0.03433896955149916	0.03381	0.844967140893	0.68244	.	.	.	0.003816	0.03222	T	-0.372816	0.03454	T	-0.773301	0.02661	T	0.0671559348702431	0.08246	T	0.462454	0.13421	T	0.038233127	0.05054	0.049408853	0.07543	0.038233127	0.05053	0.049408853	0.07542	-4.498	0.30863	T	.	.	0.104	0.19032	B	.	.	-0.469087	0.01968	0.170	0.96523846478246433	0.30126	0.00138	0.00846	N	AEFDGBI	0.019902	0.00734	N	-1.56715141177652	0.01437	0.06267459	-1.58472377924509	0.01749	0.07952678	0.0122422385556242	0.12299	0.553676	0.25195	0	0.588015	0.36545	0	0.602189	0.34648	0	0.620846	0.47308	0	.	.	5.51	-3.08	0.05022	-2.308000	0.01212	-2.687000	0.03467	-0.189000	0.09497	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.3755:0.2307:0.1287:0.2652	0.472	0.00497	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	0.008560	0.040404	0.001359	0.002924	0.050000	0.000000	0.012195	0.007576	0.05556	1027.05	406	chr20	56524998	.	C	T	1027.05	.	AC=1;AF=0.056;AN=18;BaseQRankSum=8.23;DP=1045;ExcessHet=0;FS=34.142;InbreedingCoeff=-0.0811;MLEAC=1;MLEAF=0.056;MQ=58.01;MQRankSum=-19.17;QD=2.53;ReadPosRankSum=-3.644;SOR=3.696	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:355,51:406:99:0|1:56524998_C_T:1038,0,14693:56524998	8	0	1	1
chr20	56525005	56525005	T	C	exonic	FAM209A	.	nonsynonymous SNV	FAM209A:NM_001012971:exon1:c.T197C:p.V66A	.	431	1066	25	0	0	25	0.0115902	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.095	0.00413359579284	.	.	0.0001	0.0002	0.0002	0	0	0.0001	0	0.0001	3.84e-05	1	26028	rs707554	1.164e-05	0.0002	8.172e-06	1.514e-05	0.0001	7.09e-06	5.8e-06	5.414e-05	4.055e-05	0	0	0	5.038e-05	1.874e-05	0	2.699e-06	3.314e-05	0.0001	2.637e-05	0.0003	2.578e-05	2.699e-05	0.0002	8.16e-06	5.15e-06	7.99e-06	2.99e-06	4.82e-05	0	0	0	0	0	0	1.476e-05	0	0.0002	0.222	0.18823	T	0.16	0.31427	T	0.0	0.02946	B	0.003	0.08700	B	0.971007	0.07778	N	1.017990	1	0.08975	N	1.295	0.32453	L	2.87	0.10386	T	-2.37	0.52289	N	0.136	0.13341	-0.9305	0.44066	T	0.022	0.09330	T	10	0.04262361	0.03030	T	0.004134	0.09900	T	0.095	0.27398	.	.	0.0138822411134	0.00435	0.11297937074249534	0.11225	0.256975690804	0.28266	.	.	.	0.01954	0.15549	T	-0.301829	0.08488	T	-0.671333	0.07523	T	0.0392241445291004	0.03550	T	0.368563	0.08641	T	0.049625613	0.08839	0.06962658	0.14694	0.049625613	0.08839	0.06962658	0.14694	-3.495	0.16361	T	.	.	0.069	0.03197	B	.	.	0.623466	0.09921	6.678	0.47635595541083875	0.03910	0.04211	0.09723	N	AEFDGBI	0.048429	0.08264	N	-1.39070259787422	0.02724	0.1207108	-1.34673273108721	0.03844	0.1801648	0.00889146502148676	0.11760	0.553676	0.25195	0	0.588015	0.36545	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	5.51	3.17	0.35510	0.454000	0.21539	1.500000	0.26949	-0.840000	0.02799	0.000000	0.06391	0.008000	0.19753	0.000000	0.00833	0.0:0.1709:0.0:0.8291	9.126	0.35973	988	0.01987	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.006042	0.020202	0.001359	0.000000	0.050000	0.000000	0.012195	0.007576	0.05	733.43	393	chr20	56525005	.	T	C	733.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=3.24;DP=1000;ExcessHet=0;FS=70.18;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=58.08;MQRankSum=-18.41;QD=1.87;ReadPosRankSum=-2.922;SOR=5.24	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:350,43:393:99:0|1:56524998_C_T:745,0,14402:56524998	9	0	1	0
chr20	62009072	62009072	C	T	exonic	TAF4	.	nonsynonymous SNV	TAF4:NM_003185:exon5:c.G1864A:p.E622K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.111	0.0399214121146	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.214	0.19361	T	0.426	0.13872	T	0.723	0.42412	P	0.466	0.46637	P	0.000001	0.62929	D	0.054541	1	0.81001	D	1.87	0.49600	L	0.94	0.43672	T	-1.31	0.32791	N	0.457	0.49420	-1.0843	0.06535	T	0.095	0.35844	T	10	0.4298922	0.57420	T	0.039921	0.59082	D	0.111	0.31313	0.509	0.60540	0.311241185304	0.30733	0.4288987444204244	0.42806	1.82042460252	0.91945	0.823706686497	0.85597	D	0.103375	0.41198	T	-0.0704215	0.41259	T	-0.338932	0.40465	T	0.945475578308105	0.62271	D	0.934906	0.75551	D	0.26495337	0.49564	0.18678105	0.41871	0.26495337	0.49564	0.18678105	0.41870	-9.85	0.73009	D	.	.	0.753	0.75196	P	.	.	5.018379	0.83384	28.0	0.99906747833635268	0.97726	0.99322	0.94478	D	AEFGBI	0.865753	0.78496	D	0.24894266095713	0.53585	3.526891	0.371525595802103	0.59815	4.162686	0.999999999996071	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.22	5.22	0.72285	7.599000	0.82008	7.521000	0.59763	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.984000	0.60418	0.0:1.0:0.0:0.0	18.743	0.91746	934	0.15400	TAFH/NHR1|TAFH/NHR1|TAFH/NHR1	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1091.43	103	chr20	62009072	.	C	T	1091.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.69;DP=423;ExcessHet=0;FS=2.578;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.6;ReadPosRankSum=-0.709;SOR=0.973	GT:AD:DP:GQ:PL	0/1:60,43:103:99:1103,0,1448	9	0	1	0
chr20	62351729	62351729	C	T	exonic	LAMA5	.	nonsynonymous SNV	LAMA5:NM_005560:exon6:c.G931A:p.A311T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.339	0.0858771839085	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.017	0.60337	D	0.998	0.73220	D	0.942	0.67772	D	0.000002	0.62929	U	0.057162	0.999999	0.81001	D	1.25	0.31749	L	0.1	0.61326	T	-1.89	0.44094	N	0.442	0.48042	-0.6644	0.62082	T	0.288	0.65978	T	10	0.3987872	0.55418	T	0.085877	0.74623	D	0.339	0.66106	0.477	0.55502	0.701373224483	0.69878	0.409326317413586	0.40848	.	.	0.49871045351	0.38647	T	0.048762	0.28111	T	0.0258804	0.55172	T	-0.200601	0.54589	T	0.933867454528809	0.60092	D	0.862314	0.70989	D	0.4071995	0.61229	0.5928032	0.76367	0.4071995	0.61229	0.5928032	0.76368	-5.839	0.44913	T	.	.	0.105	0.48998	B	.;.	.;.	3.254935	0.44492	21.9	0.99854460774262288	0.93368	0.93537	0.58487	D	AEFGBCI	0.478975	0.52132	N	0.125095555906086	0.47635	2.986513	-0.00856271327834855	0.39325	2.330047	0.999999999963016	0.74766	0.706548	0.73137	0	0.588066	0.40923	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	4.21	3.24	0.36257	4.722000	0.61651	2.159000	0.30968	0.547000	0.25779	1.000000	0.71638	0.974000	0.29927	0.214000	0.22296	0.0:0.844:0.156:0.0	13.726	0.62238	804	0.43891	Laminin EGF domain|Laminin EGF domain|Laminin EGF domain;Laminin EGF 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	.	.	.	.	.	.	.	.	0.05	1140.43	76	chr20	62351729	.	C	T	1140.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.093;DP=393;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=15.01;ReadPosRankSum=1.49;SOR=0.606	GT:AD:DP:GQ:PL	0/1:33,43:76:99:1152,0,947	9	0	1	0
chr21	10414916	10414921	GTTTCG	-	splicing	BAGE;BAGE4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0009	0.0039	0.0008	0.0009	0.0017	0.0008	0.0008	0.0014	0.0013	0.0015	0.0002	0.0011	0.0002	0.0004	0.0012	0.0008	0.0009	0.0017	5.37e-05	0.0013	6.559e-05	4.124e-05	0.0002	2.606e-05	1.865e-05	6.423e-05	4.391e-05	0.0001	0	0	0	0	0	0	1.494e-05	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	46.51	51	chr21	10414915	.	AGTTTCG	A	46.51	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.85;DP=648;ExcessHet=0;FS=8.451;InbreedingCoeff=-0.0619;MLEAC=1;MLEAF=0.05;MQ=56.23;MQRankSum=-6.227;QD=0.91;ReadPosRankSum=-2.295;SOR=3.126	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:46,5:51:58:0|1:10414915_AGTTTCG_A:58,0,1816:10414915	9	0	1	0
chr21	13610400	13610400	A	G	exonic	POTED	.	nonsynonymous SNV	POTED:NM_174981:exon1:c.A172G:p.R58G	.	422	954	132	14	0	160	0.0773694	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.070	0.00147797239572	.	.	.	.	.	.	.	.	.	.	0.0066851	174	26028	rs200814491	2.492e-05	8.633e-05	1.821e-05	3.157e-05	3.472e-05	1.631e-05	1.393e-05	1.38e-05	1.117e-05	0	0	0	0	5.248e-05	0	2.332e-05	5.701e-05	3.472e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	0.462	0.36386	P	0.152	0.34249	B	.	.	.	.	1	0.08975	N	2.175	0.60977	M	1.03	0.40469	T	-1.15	0.29525	N	0.041	0.03841	-1.0119	0.26322	T	0.093	0.35390	T	7	0.071079314	0.10429	T	0.001478	0.02267	T	0.070	0.20419	0.258	0.20002	0.043077524339	0.03247	0.05236624517845099	0.05178	.	.	0.467012226582	0.34271	T	0.021951	0.17006	T	-0.340339	0.05364	T	-0.423521	0.30672	T	0.131828456292153	0.15550	T	0.684632	0.29972	T	0.15094694	0.34338	0.18774164	0.42023	0.15094694	0.34338	0.18774164	0.42022	-8.467	0.64211	D	.	.	0.120	0.28578	B	.;.	.;.	1.858254	0.23606	16.08	0.93571275912320728	0.23413	0.00040	0.00335	N	AEFI	0.026967	0.02121	N	-0.883970604830688	0.11224	0.5404707	-1.10778252144765	0.07550	0.3677109	1.09839826763181E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	.	.	.	0.019000	0.13337	.	.	0.134000	0.17662	0.261000	0.24959	0.000000	0.08366	0.014000	0.10232	.	.	.	.	.	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1	5620.14	246	chr21	13610400	.	A	G	5620.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-1.693;DP=883;ExcessHet=0.2348;FS=4.048;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=57.7;MQRankSum=-0.347;QD=9.88;ReadPosRankSum=1.21;SOR=0.484	GT:AD:DP:GQ:PL	0/1:131,115:246:99:2695,0,3779	8	0	2	0
chr21	13610565	13610565	G	A	exonic	POTED	.	nonsynonymous SNV	POTED:NM_174981:exon1:c.G337A:p.G113S	.	444	172	461	445	0	1351	0.79705	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.029	0.00277741158105	.	.	.	.	.	.	.	.	.	.	0.033169	5128	154602	rs6517869	1.401e-05	6.993e-05	3.992e-06	2.407e-05	6.081e-05	8.13e-06	6.36e-06	1.007e-05	3.77e-06	0	6.081e-05	0	0	5.033e-05	0	8.892e-06	2.573e-05	3.286e-05	0	0.0001	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.153	0.24372	T	0.043	0.49942	D	1.0	0.90584	D	0.937	0.67262	D	.	.	.	.	1	0.08975	N	1.15	0.29295	L	1.66	0.27486	T	-1.24	0.31375	N	0.08	0.05542	-0.9968	0.30810	T	0.095	0.35818	T	8	0.068237185	0.09622	T	0.002777	0.05781	T	0.029	0.06676	0.202	0.11659	0.0934897674506	0.08844	0.04415967261073172	0.04359	.	.	0.431079089642	0.29356	T	0.012796	0.11182	T	-0.31698	0.07148	T	-0.693096	0.06212	T	0.036694748014754	0.03102	T	0.636336	0.25008	T	0.046982475	0.07955	0.08034204	0.18165	0.046982475	0.07954	0.08034204	0.18164	-7.591	0.58248	D	.	.	0.092	0.21163	B	.;.	.;.	1.490668	0.19177	14.13	0.9114633486319289	0.20400	0.00123	0.00769	N	AEFI	0.021764	0.01007	N	-0.750059816202474	0.14632	0.7304896	-1.05968458506513	0.08505	0.4185625	1.33632449358699E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.418	-0.732	0.10585	-1.777000	0.01877	.	.	0.323000	0.19410	0.000000	0.06391	0.000000	0.08366	0.007000	0.07825	.	.	.	.	.	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.65	47295.9	284	chr21	13610565	.	G	A	47295.9	.	AC=13;AF=0.65;AN=20;BaseQRankSum=2.78;DP=2483;ExcessHet=1.4371;FS=1.2;InbreedingCoeff=-0.0989;MLEAC=13;MLEAF=0.65;MQ=54;MQRankSum=-7.814;QD=19.88;ReadPosRankSum=-0.068;SOR=0.588	GT:AD:DP:GQ:PL	0/1:153,131:284:99:3512,0,3985	1	4	5	0
chr21	13610631	13610631	A	G	exonic	POTED	.	nonsynonymous SNV	POTED:NM_174981:exon1:c.A403G:p.I135V	.	439	188	453	442	0	1337	0.780502	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.027	0.00179256116657	.	.	.	.	.	.	.	.	.	.	0.175004	4555	26028	rs6517870	0.0002	0.0006	0.0002	0.0002	0.0010	0.0002	0.0002	0.0007	0.0006	0	0.0010	0	0	0.0019	0	0.0001	7.755e-05	3.326e-05	0.0002	0.0008	0.0001	0.0003	0.0011	0.0001	0.0001	0.0006	0.0005	0	0	0.0011	0	0	0.0004	0	8.695e-05	0	0	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	P	0.955	0.23872	L	0.69	0.51714	T	0.21	0.04776	N	0.013	0.00142	-1.0463	0.15447	T	0.001	0.00408	T	8	0.01186794	0.00257	T	0.001793	0.03063	T	0.027	0.05988	.	.	0.043077524339	0.03247	0.057245171207421994	0.05665	.	.	0.60823392868	0.54066	T	0.003659	0.03070	T	-0.325257	0.06477	T	-0.704986	0.05557	T	0.0231726184936854	0.01044	T	0.405359	0.11777	T	0.018582096	0.00380	0.026746769	0.00781	0.018582096	0.00379	0.026746769	0.00780	-2.614	0.06610	T	.	.	0.071	0.06571	B	.;.	.;.	-1.090417	0.00652	0.018	0.18791234627756773	0.00606	0.00044	0.00357	N	AEFI	0.015589	0.00305	N	-2.40962434727351	0.00026	0.001112248	-2.38906535767928	0.00042	0.001829696	4.90101459551143E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.29	-2.58	0.05866	-2.318000	0.01202	.	.	-2.102000	0.00394	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.5692:0.0:0.4308:0.0	5.628	0.16773	.	.	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.012405	0.000000	0.013369	0.016129	0.000000	0.046512	0.000000	0.010417	0.65	32418.9	248	chr21	13610631	.	A	G	32418.9	.	AC=13;AF=0.65;AN=20;BaseQRankSum=-0.799;DP=1979;ExcessHet=1.4371;FS=3.455;InbreedingCoeff=-0.0989;MLEAC=13;MLEAF=0.65;MQ=48.5;MQRankSum=-13.96;QD=17.34;ReadPosRankSum=0.791;SOR=0.955	GT:AD:DP:GQ:PL	0/1:144,104:248:99:2408,0,4001	1	4	5	0
chr21	13641414	13641414	A	G	exonic	POTED	.	nonsynonymous SNV	POTED:NM_174981:exon11:c.A1603G:p.M535V	.	518	268	324	412	0	1148	0.68171	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.056	0.000925184405604	.	.	.	.	.	.	.	.	.	.	0.0332984	5148	154602	rs9980783	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.215	0.19293	T	0.265	0.22694	T	0.053	0.22573	B	0.007	0.12992	B	.	.	.	.	0.999995	0.08975	N	1.295	0.32453	L	2.51	0.14284	T	-0.92	0.24676	N	0.112	0.09914	-0.9460	0.41648	T	0.021	0.08870	T	9	0.058576673	0.06907	T	9.25E-4	0.00889	T	0.056	0.15993	0.204	0.11936	0.0675242888579	0.06100	0.017058676146940573	0.01660	.	.	0.862693071365	0.91508	D	0.009423	0.08576	T	-0.65755	0.00065	T	-0.573482	0.15131	T	0.0619566306163236	0.07473	T	0.571043	0.20346	T	0.060948554	0.12567	0.09257506	0.21825	0.060948554	0.12567	0.09257506	0.21824	-3.238	0.12951	T	.	.	0.097	0.15788	B	.	.	0.712273	0.10810	7.493	0.4975947206577841	0.04266	0.04450	0.10053	N	AEFI	0.042990	0.06739	N	-0.991022779855283	0.08795	0.4137322	-1.03117548479235	0.09104	0.4510756	2.3450725238948E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	2.1	2.1	0.26226	1.579000	0.36145	.	.	0.351000	0.19951	0.307000	0.25387	0.000000	0.08366	0.054000	0.15518	0.8091:0.0:0.1909:0.0	3.884	0.08596	.	.	CCDC144C-like, coiled-coil domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.7	25747.0	188	chr21	13641414	.	A	G	25747.0	.	AC=14;AF=0.7;AN=20;BaseQRankSum=0.334;DP=1444;ExcessHet=0.6204;FS=0;InbreedingCoeff=0.0476;MLEAC=14;MLEAF=0.7;MQ=58.19;MQRankSum=-1.829;QD=18.7;ReadPosRankSum=-0.493;SOR=0.683	GT:AD:DP:GQ:PL	0/1:111,77:188:99:1644,0,2976	1	5	4	0
chr21	30396143	30396152	GCACTACCCA	-	exonic	KRTAP13-1	.	frameshift deletion	KRTAP13-1:NM_181599:exon1:c.57_66del:p.H20Pfs*78	.	425	1089	7	1	0	9	0.00411523	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0022	0.000998403	0.0026	0.0005	0.0005	0	0.0014	0.0030	0.0022	0.0053	0.0003074	8	26028	rs536788134	0.0029	0.0029	0.0028	0.0031	0.0061	0.0029	0.0028	0.0057	0.0055	0.0003	0.0007	7.659e-05	0	0.0009	0.0033	0.0032	0.0025	0.0061	0.0018	0.0018	0.0019	0.0016	0.0062	0.0016	0.0015	0.0045	0.0039	0.0006	0	0.0007	0	0	0.0009	0.0034	0.0028	0.0014	0.0062	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	4991.39	359	chr21	30396142	.	TGCACTACCCA	T	4991.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.427;DP=703;ExcessHet=0;FS=2.315;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.9;ReadPosRankSum=-1.1;SOR=0.744	GT:AD:DP:GQ:PL	0/1:223,136:359:99:5003,0,8832	9	0	1	0
chr21	32316543	32316543	C	T	exonic	URB1	.	nonsynonymous SNV	URB1:NM_014825:exon38:c.G6557A:p.R2186Q	.	409	1106	7	0	0	7	0.00315457	.	.	.	2289858	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.009	0.0103097684326	.	.	0.0003	0	0	0	0	0.0004	0	0.0003	3.88e-05	6	154602	rs750760039	0.0001	0.0001	9.736e-05	0.0001	0.0061	9.827e-05	9.286e-05	0.0045	0.0040	9.497e-05	8.416e-05	3.978e-05	0	0	0.0061	9.178e-05	0.0002	6.319e-05	7.877e-05	7.874e-05	6.422e-05	9.398e-05	0.0001	4.493e-05	3.509e-05	6.804e-05	5.087e-05	0	0	0	0	0	9.407e-05	0.0034	0.0001	0.0005	0	0.656	0.04757	T	0.575	0.08654	T	0.0	0.02946	B	0.0	0.01387	B	0.721426	0.06316	N	1.121610	1	0.08975	N	0.41	0.12415	N	1.55	0.29866	T	0.03	0.06612	N	0.06	0.03175	-1.0074	0.27727	T	0.040	0.17106	T	10	0.022277921	0.00552	T	0.01031	0.26698	T	0.009	0.00846	.	.	0.0401082797425	0.02173	0.0359903506912357	0.03546	.	.	0.280670166016	0.07585	T	0.002712	0.02105	T	-0.57452	0.00208	T	-0.778321	0.02505	T	0.00385126192122698	0.00041	T	0.530047	0.17581	T	0.021470916	0.00751	0.024107015	0.00426	0.021470916	0.00751	0.024107015	0.00426	-3.68	0.19023	T	.	.	0.068	0.02797	B	.	.	0.101126	0.05025	1.576	0.68141817188798681	0.08568	0.08420	0.14351	N	AEFBCI	0.040360	0.05994	N	-1.44206179393607	0.02280	0.1005058	-1.42407571421138	0.03013	0.1397349	0.744262638977223	0.23260	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.635551	0.53088	0	.	.	5.31	0.429	0.15721	-0.066000	0.11556	-0.577000	0.08396	-0.174000	0.10959	0.000000	0.06391	0.000000	0.08366	0.155000	0.20479	0.125:0.3863:0.2326:0.2561	2.136	0.03534	927	0.17636	.	.	.	.	.	.	Likely benign	0	0	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	0.002994	0.000000	0.000000	0.008000	0.000000	0.000000	0.005208	0.000000	0.05	971.43	94	chr21	32316543	.	C	T	971.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.99;DP=404;ExcessHet=0;FS=0.779;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.33;ReadPosRankSum=0.631;SOR=0.82	GT:AD:DP:GQ:PL	0/1:54,40:94:99:983,0,1305	9	0	1	0
chr21	34449523	34449523	T	0	exonic	KCNE1	.	.	.	Jervell and Lange-Nielsen syndrome 2, Autosomal recessive;Long QT syndrome 5, Autosomal dominant	406	907	114	84	11	293	0.134542	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3	578.65	19	chr21	34449523	.	T	*	578.65	.	AC=6;AF=0.3;AN=20;BaseQRankSum=1.15;DP=287;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=6;MLEAF=0.3;MQ=38.22;MQRankSum=-1.178;QD=3.38;ReadPosRankSum=-1.652;SOR=2.266	GT:AD:DP:GQ:PGT:PID:PL:PS	1|0:0,18:19:16:1|0:34449516_CCGTCACTGCTGCGGGGGGACCTGCGGGCCAGGCCCGACATGTTGCCACCCTGCTGAACTGTCTCCTGCCACAGCTTGGTCAGAAAGGG_C:375,47,51:34449516	4	0	6	0
chr21	39199440	39199440	C	T	exonic	BRWD1	.	nonsynonymous SNV	BRWD1:NM_018963:exon40:c.G4976A:p.R1659Q,BRWD1:NM_033656:exon40:c.G4976A:p.R1659Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.330	0.0693917241771	.	.	8.245e-06	0	0	0.0001	0	0	0	0	6.5e-06	1	154602	rs750065928	1.847e-05	1.915e-05	2.178e-05	1.513e-05	5.038e-05	1.265e-05	1.084e-05	1.543e-05	1.304e-05	0	0	0	5.038e-05	0	0	2.248e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.045	0.49390	D	1.0	0.90584	D	0.992	0.80445	D	0.000006	0.62929	D	0.000000	0.962637	0.38302	D	2.85	0.82803	M	-0.13	0.76948	T	-1.33	0.33197	N	0.37	0.56058	0.301	0.87577	D	0.629	0.86972	D	10	0.34526125	0.51503	T	0.069392	0.70717	D	0.330	0.65226	0.419	0.46036	0.832964583142	0.83137	0.24392766923892148	0.24306	0.41255547397	0.41996	0.475422501564	0.35427	T	0.219999	0.58317	T	-0.045109	0.45187	T	-0.0768707	0.65132	T	0.922413170337677	0.58255	D	0.940606	0.83579	D	0.39125502	0.60121	0.33677104	0.59475	0.39125502	0.60121	0.33677104	0.59474	-6.034	0.46563	T	.	.	0.194	0.59628	B	.;.;.	.;.;.	5.135573	0.85965	28.8	0.99952600565060323	0.99957	0.97982	0.78620	D	AEFBI	0.475932	0.51956	N	0.758734146323218	0.83475	8.026614	0.730422036595429	0.84689	8.36241	0.999999999480687	0.74766	0.706548	0.73137	0	0.653731	0.59785	0	0.724815	0.87919	0	0.662433	0.64102	0	.	.	5.51	5.51	0.81769	5.015000	0.63798	7.638000	0.63056	0.599000	0.40250	0.986000	0.36153	1.000000	0.68203	0.995000	0.73285	0.0:1.0:0.0:0.0	17.632	0.88011	958	0.09170	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1560.43	128	chr21	39199440	.	C	T	1560.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.09;DP=511;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.19;ReadPosRankSum=-0.399;SOR=0.716	GT:AD:DP:GQ:PL	0/1:68,60:128:99:1572,0,1717	9	0	1	0
chr21	39420735	39420735	C	T	exonic	LCA5L	.	nonsynonymous SNV	LCA5L:NM_001384292:exon4:c.G556A:p.E186K,LCA5L:NM_001384294:exon4:c.G556A:p.E186K,LCA5L:NM_001384295:exon5:c.G556A:p.E186K,LCA5L:NM_001384296:exon5:c.G556A:p.E186K,LCA5L:NM_001384285:exon6:c.G946A:p.E316K,LCA5L:NM_001384286:exon6:c.G946A:p.E316K,LCA5L:NM_001384287:exon6:c.G946A:p.E316K,LCA5L:NM_001384289:exon6:c.G946A:p.E316K,LCA5L:NM_001384291:exon6:c.G946A:p.E316K,LCA5L:NM_001384293:exon6:c.G556A:p.E186K,LCA5L:NM_001384303:exon6:c.G556A:p.E186K,LCA5L:NM_001384288:exon7:c.G946A:p.E316K,LCA5L:NM_152505:exon7:c.G946A:p.E316K	.	434	1084	4	0	0	4	0.00184162	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.508	0.0575799952939	.	.	0.0003	0	0.0002	0	0	0.0002	0.0011	0.0013	0.0002458	38	154602	rs535073284	0.0002	0.0002	0.0001	0.0002	0.0017	0.0002	0.0002	0.0015	0.0014	0	0.0002	0	0	0	0.0017	8.461e-05	0.0003	0.0017	0.0001	0.0001	2.571e-05	0.0002	0.0012	6.515e-05	5.326e-05	0.0005	0.0004	2.414e-05	0	0.0003	0	0	0	0	5.882e-05	0	0.0012	0.0	0.91255	D	0.013	0.63109	D	1.0	0.90584	D	0.998	0.88582	D	0.000003	0.62929	D	0.060167	0.999996	0.58761	D	3.185	0.88900	M	-1.4	0.80474	T	-3.54	0.68651	D	0.827	0.82964	0.333	0.88071	D	0.685	0.89128	D	10	0.2940641	0.46980	T	0.05758	0.67017	D	0.508	0.78848	0.234	0.16305	0.850450613299	0.84901	0.25913489865744255	0.25827	0.433100072311	0.43478	0.541312396526	0.44630	T	0.186711	0.54008	T	-0.0201029	0.48840	T	0.162969	0.80988	D	0.277458141969829	0.24064	T	0.848915	0.53103	T	0.87413114	0.89191	0.87427324	0.93162	0.87413114	0.89192	0.87427324	0.93162	-9.057	0.68063	D	.	.	0.267	0.50119	B	.;.;.	.;.;.	5.857444	0.93842	33	0.99934824551316848	0.99579	0.93078	0.57271	D	AEFDBCI	0.770140	0.70518	D	0.77957130562323	0.84812	8.393594	0.756056134041826	0.86608	8.944403	0.999999999999318	0.74766	0.428477	0.06694	0	0.547309	0.14657	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	5.76	5.76	0.90726	5.304000	0.65535	5.837000	0.50214	0.596000	0.33519	1.000000	0.71638	1.000000	0.68203	0.983000	0.59808	0.0:1.0:0.0:0.0	19.972	0.97288	947	0.11584	Lebercilin domain;Lebercilin domain;Lebercilin 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	0.001007	0.000000	0.001359	0.000000	0.000000	0.000000	0.003049	0.000000	0.05	463.43	29	chr21	39420735	.	C	T	463.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.24;DP=235;ExcessHet=0;FS=3.267;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=15.98;ReadPosRankSum=-0.709;SOR=1.371	GT:AD:DP:GQ:PL	0/1:12,17:29:99:475,0,274	9	0	1	0
chr21	44637708	44637723	TGTCTGCTGTGTGCCC	0	exonic	KRTAP10-10	.	.	.	.	451	251	178	15	627	835	0.292958	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4444	3493.31	299	chr21	44637708	.	TGTCTGCTGTGTGCCC	*	3493.31	.	AC=8;AF=0.444;AN=18;DP=3412;ExcessHet=1.5636;FS=2.538;InbreedingCoeff=-0.0667;MLEAC=9;MLEAF=0.5;MQ=59.94;QD=1.42;SOR=0.538	GT:AD:DP:GQ:PL	1/0:0,168:299:99:12175,4177,3499	2	1	6	1
chr22	17120943	17120963	CCGCGTCTGCCGCCGCCTCCC	-	exonic	TMEM121B	.	nonframeshift deletion	TMEM121B:NM_031890:exon1:c.165_185del:p.R60_G66del	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	2.737e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	30.49	16	chr22	17120942	.	GCCGCGTCTGCCGCCGCCTCCC	G	30.49	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.335;DP=110;ExcessHet=0;FS=0;InbreedingCoeff=-0.0604;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=1.91;ReadPosRankSum=1.46;SOR=0.307	GT:AD:DP:GQ:PL	0/1:14,2:16:42:42,0,561	9	0	1	0
chr22	18925165	18925165	A	G	exonic	LOC102724788;PRODH	.	nonsynonymous SNV	PRODH:NM_001195226:exon4:c.T229C:p.W77R,LOC102724788:NM_001368249:exon4:c.T553C:p.W185R,LOC102724788:NM_001368250:exon4:c.T229C:p.W77R,PRODH:NM_016335:exon4:c.T553C:p.W185R	.	0	170	630	722	0	2074	0.859155	.	.	.	1159081	Proline_dehydrogenase_deficiency|not_provided	MONDO:MONDO:0009400,MedGen:C0268529,OMIM:239500,Orphanet:419|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.076	.	0.6739	0.78095	0.6417	0.8658	0.6056	0.9683	0.4835	0.5769	0.6024	0.6814	0.02359	614	26028	rs386819653	0.0003	0.0047	0.0004	0.0002	0.0023	0.0002	0.0001	0.0006	0.0003	0	0.0023	0	0	0	0	0.0004	0	0	0	0.0002	0	0	.	0	0	.	.	0	0	0	0	0	0	.	0	0	0	0.503	0.07670	T	0.534	0.09965	T	0.0	0.02946	B	0.0	0.01387	B	0.094139	0.20188	N	0.520350	0.999439	0.21199	P	.	.	.	-0.92	0.75108	T	3.71	0.00075	N	0.033	0.01068	-0.9908	0.32398	T	0.000	0.00011	T	8	1.1503014e-06	0.00003	T	.	.	.	0.124	0.34239	0.323	0.30387	.	.	0.36059814543275515	0.35973	0.483945717353	0.47326	0.248760938644	0.03638	T	0.002583	0.06018	T	-0.601222	0.00143	T	-0.49257	0.23121	T	0.00184463573786778	0.00019	T	0.00685721	0.00048	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.040	0.00015	B	.;.;.;.;.	.;.;.;.;.	0.485323	0.08545	5.311	0.22177376406136032	0.00880	0.05952	0.11910	N	AEFDBI	0.024100	0.01439	N	-0.980425259653166	0.09021	0.425321	-0.911628502467974	0.11819	0.6044718	0.999452624102034	0.39788	0.722319	0.85440	0	0.627178	0.54094	0	0.698795	0.65105	0	0.613276	0.41899	0	.	.	5.03	2.88	0.32617	3.825000	0.55430	1.457000	0.26651	-2.966000	0.00148	0.770000	0.29357	0.835000	0.27248	0.022000	0.11911	0.1618:0.0:0.6925:0.1458	6.438	0.21037	929	0.16858	.;.;.;.;.	.	.	.	.	rs4819756	Benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	1	0	0.686304	0.752525	0.689373	0.602339	0.700000	0.612069	0.704268	0.655303	0.6	25769.9	170	chr22	18925165	.	A	G	25769.9	.	AC=12;AF=0.6;AN=20;BaseQRankSum=0.855;DP=1326;ExcessHet=0.0072;FS=0.629;InbreedingCoeff=0.5833;MLEAC=12;MLEAF=0.6;MQ=60;MQRankSum=0;QD=21.55;ReadPosRankSum=0.848;SOR=0.79	GT:AD:DP:GQ:PL	1/1:0,170:170:99:5276,510,0	3	5	2	0
chr22	20112643	20112643	-	C	exonic	TRMT2A	.	frameshift insertion	TRMT2A:NM_001331039:exon12:c.1851dupG:p.P618Afs*15,TRMT2A:NM_022727:exon12:c.1797dupG:p.P600Afs*15,TRMT2A:NM_182984:exon13:c.1797dupG:p.P600Afs*15	.	426	1079	17	0	0	17	0.00781609	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0069	0.00499201	0.0094	0.0015	0.0017	0.0001	0.0118	0.0117	0.0066	0.0145	0.0011142	29	26028	rs554627514	0.0094	0.0094	0.0091	0.0097	0.0148	0.0093	0.0092	0.0142	0.0139	0.0013	0.0029	0.0029	0	0.0121	0.0049	0.0100	0.0078	0.0148	0.0066	0.0066	0.0067	0.0065	0.0137	0.0063	0.0061	0.0110	0.0100	0.0015	0	0.0041	0.0026	0	0.0089	0.0102	0.0103	0.0047	0.0137	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009063	0.005051	0.008152	0.002924	0.000000	0.008621	0.012195	0.022727	0.05	1292.39	116	chr22	20112643	.	G	GC	1292.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.778;DP=457;ExcessHet=0;FS=2.402;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.14;ReadPosRankSum=1.16;SOR=0.551	GT:AD:DP:GQ:PL	0/1:65,51:116:99:1304,0,1766	9	0	1	0
chr22	21216084	21216084	C	T	exonic	GGT2	.	nonsynonymous SNV	GGT2:NM_001351304:exon10:c.G589A:p.G197S	.	708	711	85	18	0	121	0.0784187	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025511	664	26028	rs55710139	7.199e-06	1.59e-05	2.859e-06	1.16e-05	2.647e-05	3.64e-06	2.65e-06	2.72e-06	1.75e-06	0	0	0	2.647e-05	0	0	6.546e-06	1.74e-05	1.241e-05	5.682e-05	7.425e-05	5.532e-05	5.84e-05	9.519e-05	2.739e-05	2.062e-05	4.112e-05	2.739e-05	2.491e-05	0	8e-05	0	0	0	0	9.519e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4	745.45	15	chr22	21216084	.	C	T	745.45	.	AC=8;AF=0.4;AN=20;BaseQRankSum=2.13;DP=155;ExcessHet=10.3881;FS=2.76;InbreedingCoeff=-0.7054;MLEAC=8;MLEAF=0.4;MQ=44.76;MQRankSum=-1.805;QD=6.26;ReadPosRankSum=1.17;SOR=0.539	GT:AD:DP:GQ:PL	0/1:7,8:15:99:236,0,165	2	0	8	0
chr22	21867418	21867418	-	CCG	exonic	MAPK1	.	nonframeshift insertion	MAPK1:NM_002745:exon1:c.22_23insCGG:p.A7_G8insA,MAPK1:NM_138957:exon1:c.22_23insCGG:p.A7_G8insA	.	10	1488	21	0	3	24	0.00700701	.	.	.	1164574	MAPK1-related_disorder|not_specified|not_provided	.|MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	.	.	.	.	0.0052	0	0	0	0	0.0031	0	0.0147	0.0001153	3	26028	rs770506771	0.0044	0.0040	0.0042	0.0045	0.0455	0.0042	0.0042	0.0406	0.0388	0.0017	0.0455	0.0024	0.0007	0.0062	0.0063	0.0035	0.0055	0.0326	0.0084	0.0086	0.0070	0.0099	0.0416	0.0081	0.0079	0.0369	0.0351	0.0032	0.0220	0.0365	0.0035	0.0031	0.0082	0.0069	0.0037	0.0024	0.0416	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	1656.1	37	chr22	21867418	.	C	CCCG	1656.1	.	AC=2;AF=0.1;AN=20;BaseQRankSum=1.66;DP=402;ExcessHet=0.2348;FS=0;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=19.26;ReadPosRankSum=0.214;SOR=0.693	GT:AD:DP:GQ:PL	0/1:20,17:37:99:653,0,748	8	0	2	0
chr22	23311788	23311788	-	CCGG	exonic	BCR	.	frameshift insertion	BCR:NM_021574:exon18:c.3142_3143insCCGG:p.V1050Rfs*17,BCR:NM_004327:exon19:c.3274_3275insCCGG:p.V1094Rfs*17	Leukemia, acute lymphocytic, somatic;Leukemia, chronic myeloid, somatic	25	583	905	9	0	923	0.441838	.	.	.	1196252	Chronic_myelogenous_leukemia,_BCR-ABL1_positive|not_provided	Human_Phenotype_Ontology:HP:0005506,Human_Phenotype_Ontology:HP:0005544,MONDO:MONDO:0011996,MeSH:D015464,MedGen:C0279543,OMIM:608232,Orphanet:521|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0012679	33	26028	rs372013175	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.35	3559.91	73	chr22	23311788	.	T	TCCGG	3559.91	.	AC=7;AF=0.35;AN=20;BaseQRankSum=0.584;DP=874;ExcessHet=7.0302;FS=18.299;InbreedingCoeff=-0.5385;MLEAC=7;MLEAF=0.35;MQ=55.4;MQRankSum=-7.428;QD=5.06;ReadPosRankSum=0.133;SOR=1.82	GT:AD:DP:GQ:PL	0/1:65,8:73:99:140,0,2676	3	0	7	0
chr22	23765457	23765457	G	A	exonic	C22orf15	.	nonsynonymous SNV	C22orf15:NM_001376903:exon5:c.G421A:p.G141R	.	425	1055	41	1	0	43	0.0199721	0.0388	0.148	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.032	.	.	0.00439297	0.0133	0	0	0	0	0.0161	0.0096	0.0172	0.0025614	396	154602	rs118072813	0.0075	0.0072	0.0071	0.0080	0.0179	0.0074	0.0074	0.0165	0.0162	0.0009	0.0035	0.0204	0	0.0009	0.0179	0.0073	0.0083	0.0173	0.0049	0.0049	0.0050	0.0048	0.0159	0.0046	0.0045	0.0131	0.0120	0.0013	0.0088	0.0033	0.0210	0.0002	0.0003	0.0068	0.0068	0.0071	0.0159	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.989	0.78396	D	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	0.75	0.02007	N	0.185	0.20129	-1.0202	0.23649	T	0.034	0.14552	T	7	0.003980577	0.00077	T	0.005023	0.12690	T	0.123	0.34020	0.23	0.15705	0.180583059064	0.17676	.	.	.	.	.	.	.	.	.	.	-0.46172	0.00959	T	-0.421725	0.30877	T	0.0650722298416421	0.07942	T	0.520648	0.16939	T	.	.	.	.	.	.	.	.	-3.358	0.14497	T	.	.	0.169	0.37216	B	.	.	3.789766	0.54539	23.5	0.99848068375335886	0.92750	0.93845	0.59357	D	AEFDBHCI	0.264985	0.38221	N	-0.0526188822189248	0.39485	2.329274	-0.0561549082266573	0.37225	2.176699	0.99999999998708	0.74766	0.536635	0.22144	0	0.405561	0.06353	1	0.489635	0.07774	0	0.562822	0.20929	0	.	.	3.26	2.24	0.27264	2.197000	0.42329	1.175000	0.24653	0.674000	0.70861	1.000000	0.71638	1.000000	0.68203	0.983000	0.59808	0.1331:0.0:0.8669:0.0	6.529	0.21518	976	0.04745	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1	2983.14	146	chr22	23765457	.	G	A	2983.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=2.67;DP=545;ExcessHet=0.2348;FS=0;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=11.93;ReadPosRankSum=2.42;SOR=0.69	GT:AD:DP:GQ:PL	0/1:73,73:146:99:2013,0,1811	8	0	2	0
chr22	24874423	24874423	G	A	exonic	SGSM1	.	nonsynonymous SNV	SGSM1:NM_001039948:exon13:c.G1300A:p.D434N,SGSM1:NM_133454:exon13:c.G1300A:p.D434N	.	420	1099	3	0	0	3	0.00136302	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.012	0.0174424626638	0.0003	0.00139776	0.0003	0.0019	0.0003	0	0	4.639e-05	0.0012	0.0004	0.0002587	40	154602	rs186909479	0.0001	0.0001	9.286e-05	0.0001	0.0020	9.837e-05	9.251e-05	0.0016	0.0015	0.0020	0.0005	3.877e-05	5.058e-05	0	0.0007	1.712e-05	0.0003	0.0004	0.0006	0.0006	0.0007	0.0005	0.0018	0.0005	0.0005	0.0015	0.0014	0.0018	0	0.0005	0	0	0	0	2.945e-05	0.0005	0.0006	0.997	0.01938	T	0.729	0.05470	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	0.999998	0.08975	N	0.49	0.13296	N	3.3	0.06368	T	0.41	0.03407	N	0.076	0.05037	-0.9152	0.46194	T	0.010	0.03537	T	9	0.007812887	0.00177	T	0.017442	0.39139	T	0.012	0.01476	.	.	0.082315109003	0.07666	0.1871336922046553	0.18631	0.225505390066	0.25090	0.349540293217	0.17855	T	0.005898	0.05345	T	-0.719836	0.00028	T	-0.825785	0.01339	T	0.00130709587206664	0.00013	T	0.659134	0.26825	T	0.02868884	0.02245	0.035835255	0.02910	0.02868884	0.02244	0.035835255	0.02909	-7.663	0.58750	D	.	.	0.077	0.06250	B	.;.	.;.	0.515741	0.08847	5.624	0.87332881994676115	0.17152	0.01917	0.05860	N	AEFDGBI	0.042292	0.06543	N	-1.34485262101184	0.03178	0.1415585	-1.34841978827546	0.03824	0.1791869	0.00277868603759175	0.09698	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	4.52	-0.18	0.12643	0.665000	0.24764	2.358000	0.32355	-0.137000	0.12594	0.000000	0.06391	0.027000	0.21108	0.036000	0.13842	0.4206:0.0:0.5794:0.0	6.938	0.23658	598	0.68232	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.000000	0.002717	0.000000	0.000000	0.000000	0.000000	0.000000	0.05	345.43	45	chr22	24874423	.	G	A	345.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.44;DP=392;ExcessHet=0;FS=15.464;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=7.68;ReadPosRankSum=-1.079;SOR=2.256	GT:AD:DP:GQ:PL	0/1:31,14:45:99:357,0,739	9	0	1	0
chr22	36265604	36265604	G	C	exonic	APOL1	.	nonsynonymous SNV	APOL1:NM_001136541:exon5:c.G714C:p.E238D,APOL1:NM_001362927:exon5:c.G714C:p.E238D,APOL1:NM_001136540:exon6:c.G768C:p.E256D,APOL1:NM_003661:exon6:c.G768C:p.E256D,APOL1:NM_145343:exon7:c.G816C:p.E272D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.082	0.00111242078578	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.916e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.217	0.19157	T	0.196	0.28860	T	0.992	0.64738	D	0.989	0.78396	D	0.770951	0.06597	N	1.103480	1	0.08975	N	1.665	0.42610	L	3.83	0.03702	T	-1.87	0.43717	N	0.092	0.11483	-1.0243	0.22311	T	0.022	0.09421	T	10	0.27728033	0.45294	T	0.001112	0.01336	T	0.082	0.23913	0.507	0.60232	0.53906709209	0.53559	0.16556427240615473	0.16476	0.360721973955	0.37738	0.259047538042	0.04778	T	0.012596	0.11043	T	-0.333464	0.05853	T	-0.716774	0.04953	T	0.245490476489067	0.22670	T	0.777122	0.41012	T	0.06793174	0.14756	0.04626168	0.06409	0.06793174	0.14756	0.04626168	0.06409	-3.75	0.20954	T	.	.	0.137	0.29779	B	.;.;.;.;.	.;.;.;.;.	0.291250	0.06675	3.178	0.98905130924322504	0.48254	0.01941	0.05908	N	AEFDBI	0.220069	0.34487	N	-0.670268106369882	0.16873	0.8634436	-1.02054216251253	0.09334	0.4637797	0.994276953357058	0.33564	0.706548	0.73137	0	0.724815	0.89359	0	0.547309	0.15389	0	0.714379	0.83352	0	.	.	3.12	-6.25	0.01863	-0.470000	0.06717	-7.429000	0.01158	-1.187000	0.01379	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.341:0.3049:0.2002:0.1539	0.870	0.01134	489	0.76795	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1111	201.06	161	chr22	36265604	.	G	C	201.06	.	AC=2;AF=0.111;AN=18;BaseQRankSum=-3.908;DP=1212;ExcessHet=0.2348;FS=243.904;InbreedingCoeff=-0.1651;MLEAC=2;MLEAF=0.111;MQ=60;MQRankSum=0;QD=0.67;ReadPosRankSum=2.75;SOR=8.349	GT:AD:DP:GQ:PL	0/1:131,23:161:70:70,0,4484	7	0	2	1
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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.692	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	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1	394.14	110	chr22	36316560	.	G	C	394.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-3.366;DP=800;ExcessHet=0.2348;FS=166.366;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=2.04;ReadPosRankSum=2.69;SOR=7.378	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:86,24:110:99:0|1:36316560_G_C:313,0,3105:36316560	8	0	2	0
chr22	42128800	42128800	G	C	exonic	CYP2D6;CYP2D7	.	nonsynonymous SNV	CYP2D6:NM_001025161:exon3:c.C497G:p.S166W,CYP2D6:NM_000106:exon4:c.C650G:p.S217W	.	1	1516	3	1	1	6	0.00164636	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.377	0.0353281402425	.	.	.	.	.	.	.	.	.	.	.	.	.	rs201501394	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.006	0.63226	D	0.006	0.72224	D	.	.	.	.	.	.	0.610193	0.10874	N	0.809840	0.999998	0.08975	N	3.585	0.93597	H	-0.53	0.70833	T	-5.02	0.82511	D	0.407	0.44761	-0.5342	0.67382	T	0.525	0.82331	D	10	0.73166484	0.74340	D	0.035328	0.56271	D	0.377	0.69527	0.739	0.87147	0.797118731521	0.79523	0.6576490673856101	0.65701	0.62449848004	0.56654	0.281570315361	0.07713	T	0.018476	0.33252	T	0.0312242	0.55886	T	-0.192925	0.55316	T	0.853606224060059	0.50479	D	0.946705	0.79569	D	0.13943303	0.32209	0.06706871	0.13825	0.13943303	0.32209	0.06706871	0.13825	-7.435	0.57151	T	.	.	0.288	0.53610	B	.;.;.;.;.	.;.;.;.;.	2.245967	0.28682	17.88	0.98072392765842675	0.38038	0.15440	0.18913	N	AEFDBI	0.269854	0.38604	N	-0.121494686086378	0.36458	2.107586	-0.412024604287615	0.24644	1.350678	0.00190668887536416	0.08993	0.554377	0.28877	0	0.588066	0.40923	0	0.576033	0.28219	0	0.604944	0.38103	0	.	.	3.37	2.35	0.28166	0.231000	0.17651	-4.767000	0.01995	-0.241000	0.07509	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1349:0.0:0.8651:0.0	6.523	0.21482	106	0.95650	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	2518.43	218	chr22	42128800	.	G	C	2518.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.88;DP=882;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=55.11;MQRankSum=0.194;QD=11.55;ReadPosRankSum=-0.182;SOR=0.717	GT:AD:DP:GQ:PL	0/1:119,99:218:99:2530,0,2854	9	0	1	0
chr22	43124099	43124099	C	T	exonic	BIK	.	nonsynonymous SNV	BIK:NM_001197:exon2:c.C77T:p.T26I	.	429	1079	13	1	0	15	0.0069029	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.019	.	0.0083	0.00279553	0.0083	0.0019	0.0025	0.0002	0.0210	0.0105	0.0121	0.0059	0.0080529	1245	154602	rs11090143	0.0098	0.0098	0.0097	0.0098	0.0104	0.0097	0.0096	0.0103	0.0102	0.0019	0.0029	0.0026	7.557e-05	0.0232	0.0029	0.0104	0.0090	0.0077	0.0075	0.0075	0.0075	0.0075	0.0105	0.0071	0.0070	0.0099	0.0096	0.0019	0.0022	0.0033	0.0026	0.0002	0.0235	0	0.0105	0.0066	0.0050	0.039	0.42487	D	0.079	0.42086	T	0.051	0.22415	B	0.048	0.24975	B	.	.	.	.	1	0.08975	N	0.805	0.20218	L	1.92	0.23082	T	-1.69	0.40274	N	0.1	0.08227	-0.9956	0.31136	T	0.015	0.05897	T	9	0.0035405755	0.00063	T	.	.	.	0.019	0.03383	.	.	0.143124449307	0.13826	0.030796811608915953	0.03028	0.0923363113691	0.10425	0.284139275551	0.08076	T	0.140903	0.47568	T	-0.708882	0.00032	T	-0.780649	0.02433	T	0.0135060138231187	0.00247	T	0.348865	0.07732	T	0.04954497	0.08812	0.043538105	0.05439	0.04954497	0.08812	0.043538105	0.05438	-3.591	0.17727	T	.	.	0.210	0.43707	B	.	.	0.426402	0.07970	4.681	0.99461169962531915	0.65788	0.01242	0.04380	N	AEFDBI	0.027895	0.02361	N	-1.34130423540383	0.03215	0.1432762	-1.44065222837804	0.02856	0.1321483	0.99934780394985	0.39222	0.646311	0.45356	0	0.633656	0.55848	0	0.645312	0.48771	0	0.567892	0.33627	0	.	.	2.55	-2.62	0.05793	-0.887000	0.04260	-0.612000	0.08217	-0.202000	0.08738	0.000000	0.06391	0.000000	0.08366	0.005000	0.06747	0.193:0.3557:0.1897:0.2616	0.524	0.00576	809	0.43032	.	.	.	.	.	rs11090143	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001007	0.005051	0.001359	0.000000	0.000000	0.008621	0.000000	0.003788	0.05	1484.43	131	chr22	43124099	.	C	T	1484.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.85;DP=446;ExcessHet=0;FS=2.216;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.33;ReadPosRankSum=-0.589;SOR=0.646	GT:AD:DP:GQ:PL	0/1:73,58:131:99:1496,0,1854	9	0	1	0
chr22	43159279	43159279	C	T	exonic	TSPO	.	nonsynonymous SNV	TSPO:NM_000714:exon2:c.C41T:p.A14V,TSPO:NM_001256530:exon2:c.C41T:p.A14V,TSPO:NM_001256531:exon2:c.C41T:p.A14V	.	424	1092	6	0	0	6	0.00273973	.	.	.	717496	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.076	.	0.0017	0.000998403	0.0035	0	0	0	0	0.0050	0.0132	0.0032	0.0011966	185	154602	rs187866832	0.0025	0.0025	0.0025	0.0025	0.0029	0.0024	0.0024	0.0028	0.0027	0.0006	0.0007	0.0001	5.497e-05	0.0005	0.0012	0.0029	0.0017	0.0029	0.0015	0.0015	0.0016	0.0014	0.0025	0.0014	0.0013	0.0022	0.0021	0.0007	0	0.0011	0	0.0002	9.409e-05	0	0.0025	0.0014	0.0017	0.328	0.14645	T	0.347	0.17640	T	0.004	0.12183	B	0.003	0.08700	B	0.283718	0.14897	N	0.660844	1	0.08975	N	.	.	.	1.01	0.41058	T	1.42	0.00846	N	0.074	0.04790	-1.0458	0.15592	T	0.033	0.14117	T	10	0.009313464	0.00210	T	.	.	.	0.076	0.22200	.	.	0.0482279557977	0.04254	0.10879833319805587	0.10808	0.214014092029	0.23928	0.367172718048	0.20426	T	0.003149	0.02556	T	-0.684004	0.00045	T	-0.75709	0.03218	T	0.00154720271831872	0.00016	T	0.614539	0.24845	T	0.02948194	0.02450	0.055886913	0.09886	0.02948194	0.02450	0.055886913	0.09885	-3.875	0.21928	T	.	.	0.069	0.05535	B	.;.;.;.	.;.;.;.	0.425206	0.07959	4.668	0.92481344580476355	0.21912	0.02152	0.06328	N	AEFBCI	0.028731	0.02587	N	-1.40272070203532	0.02615	0.1157139	-1.37777533153695	0.03490	0.1629015	0.844556457785788	0.24929	0.706298	0.61202	0	0.709663	0.81188	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	4.28	-1.96	0.07113	0.166000	0.16400	-2.744000	0.03406	-1.619000	0.00871	0.558000	0.27409	0.000000	0.08366	0.114000	0.18915	0.0:0.1833:0.0:0.8167	10.984	0.46727	819	0.41190	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.001035	0.000000	0.000000	0.000000	0.000000	0.008772	0.000000	0.003846	0.05	280.43	46	chr22	43159279	.	C	T	280.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.101;DP=344;ExcessHet=0;FS=1.219;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=6.1;ReadPosRankSum=1.25;SOR=0.484	GT:AD:DP:GQ:PL	0/1:32,14:46:99:292,0,838	9	0	1	0
chr22	43668979	43668979	T	C	exonic	EFCAB6	.	nonsynonymous SNV	EFCAB6:NM_198856:exon14:c.A1251G:p.I417M,EFCAB6:NM_022785:exon16:c.A1707G:p.I569M	.	432	1082	8	0	0	8	0.00368324	.	.	.	2778107	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.071	0.00135067105522	0.0009	0.000399361	0.0003	0.0022	0	0	0	0.0001	0	6.057e-05	0.0002199	34	154602	rs145207977	0.0001	0.0001	0.0001	0.0001	0.0024	0.0001	9.973e-05	0.0020	0.0019	0.0024	0.0002	0	0	0	0.0007	4.948e-05	0.0002	0.0002	0.0005	0.0005	0.0004	0.0006	0.0017	0.0004	0.0004	0.0013	0.0012	0.0017	0	0.0001	0	0	0	0.0034	2.939e-05	0	0	0.28	0.17821	T	0.321	0.19073	T	0.005	0.12996	B	0.021	0.19346	B	0.385040	0.04443	N	1.367690	1	0.08975	N	0.09	0.08384	N	1.0	0.41392	T	-0.58	0.17417	N	0.17	0.18103	-1.0338	0.19236	T	0.034	0.14509	T	10	0.0091484785	0.00207	T	0.001351	0.01936	T	0.071	0.20720	.	.	0.206339911435	0.20273	0.15748144635412276	0.15669	0.0553457390412	0.06125	0.261881053448	0.05117	T	0.002625	0.02014	T	-0.698719	0.00037	T	-0.781986	0.02394	T	0.013556022078353	0.00249	T	0.380662	0.09189	T	0.060081076	0.12286	0.04823514	0.07123	0.060081076	0.12285	0.04823514	0.07122	-4.503	0.35633	T	.	.	0.062	0.04041	B	.;.	.;.	-1.480321	0.00307	0.005	0.087601175916635202	0.00075	0.00660	0.02859	N	AEFI	0.060162	0.11414	N	-2.20717203241649	0.00074	0.003162222	-2.30085149022259	0.00066	0.002902564	0.999992603108497	0.74766	0.553676	0.25195	0	0.588015	0.36545	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	4.97	-9.94	0.00371	-2.825000	0.00815	-5.106000	0.01847	-0.126000	0.13398	0.000000	0.06391	0.000000	0.08366	0.012000	0.09680	0.307:0.1844:0.2234:0.2852	0.061	0.00014	923	0.18507	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.001007	0.000000	0.000000	0.000000	0.000000	0.017241	0.000000	0.000000	0.05	446.43	68	chr22	43668979	.	T	C	446.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-3.102;DP=377;ExcessHet=0;FS=0.952;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=6.57;ReadPosRankSum=-1.817;SOR=0.859	GT:AD:DP:GQ:PL	0/1:44,24:68:99:458,0,1318	9	0	1	0
chr22	43981460	43981460	A	G	exonic	SAMM50	.	nonsynonymous SNV	SAMM50:NM_015380:exon11:c.A1006G:p.R336G	.	.	.	.	.	.	.	.	0.1094	0.462	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.457	0.0657227945957	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.007	0.59928	D	0.013	0.63109	D	0.998	0.73220	D	0.96	0.70309	D	0.000000	0.84330	D	0.000000	0.999993	0.58761	D	3.005	0.85968	M	0.75	0.50192	T	-4.9	0.81514	D	0.967	0.97750	-0.5462	0.66930	T	0.311	0.68094	T	10	0.941803	0.93505	D	0.065723	0.69664	D	0.457	0.75551	0.793	0.91438	0.750199644012	0.74794	0.9330939661303611	0.93288	0.872656408786	0.69455	0.84783667326	0.89287	D	0.264585	0.63638	T	0.276898	0.81049	D	0.159968	0.80804	D	0.994433462619781	0.85721	D	0.957304	0.83911	D	0.8322926	0.86063	0.714973	0.83178	0.8322926	0.86064	0.714973	0.83179	-12.142	0.85536	D	.	.	0.846	0.79563	P	.	.	3.570199	0.50282	22.9	0.99434715645601779	0.64472	0.98339	0.81784	D	AEFBI	0.853939	0.77093	D	0.281068212351746	0.55189	3.68317	0.106182645707031	0.44865	2.760003	0.00148793294782743	0.08576	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	4.95	2.78	0.31702	4.794000	0.62175	4.893000	0.45784	0.750000	0.87069	1.000000	0.71638	0.999000	0.35428	0.119000	0.19126	0.6368:0.3632:0.0:0.0	10.399	0.43402	798	0.45050	Bacterial surface antigen (D15)	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1596.43	136	chr22	43981460	.	A	G	1596.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.881;DP=478;ExcessHet=0;FS=3.085;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.74;ReadPosRankSum=-2.296;SOR=0.519	GT:AD:DP:GQ:PL	0/1:73,63:136:99:1608,0,1968	9	0	1	0
chr22	46397724	46397724	T	C	exonic	CELSR1	.	nonsynonymous SNV	CELSR1:NM_001378328:exon12:c.A5651G:p.N1884S,CELSR1:NM_014246:exon12:c.A5651G:p.N1884S	.	417	1053	52	0	0	52	0.0240964	.	.	.	2736118	not_provided|CELSR1-related_disorder	MedGen:C3661900|.	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.099	.	0.0035	0.00439297	0.0102	0.0019	0.0097	0.0003	0.0262	0.0119	0.0145	0.0112	0.0043208	668	154602	rs144122307	0.0055	0.0055	0.0054	0.0056	0.0336	0.0054	0.0054	0.0297	0.0282	0.0009	0.0044	0.0041	2.63e-05	0.0065	0.0336	0.0056	0.0063	0.0071	0.0043	0.0043	0.0041	0.0046	0.0060	0.0041	0.0040	0.0051	0.0049	0.0013	0	0.0050	0.0023	0.0002	0.0087	0.0068	0.0055	0.0095	0.0060	0.095	0.31235	T	0.099	0.38891	T	0.104	0.25941	B	0.024	0.20255	B	0.000929	0.41028	U	0.149021	0.970658	0.25693	N	1.8	0.47472	L	1.59	0.28836	T	-2.85	0.60029	D	0.468	0.50418	-1.0883	0.05821	T	0.051	0.21689	T	10	0.0123339	0.00265	T	.	.	.	0.099	0.28413	.	.	0.51743518642	0.51388	0.17866635132833883	0.17785	0.180036691928	0.20253	0.33372759819	0.15496	T	0.476755	0.80727	T	-0.553792	0.00277	T	-0.564115	0.15992	T	0.0322841818226493	0.02352	T	0.834417	0.50357	T	0.123880945	0.29080	0.12335056	0.29745	0.123880945	0.29079	0.12335056	0.29745	-5.796	0.44540	T	.	.	0.093	0.14062	B	.	.	2.594154	0.33663	19.40	0.90232056920767623	0.19504	0.97015	0.72198	D	AEFDBI	0.707286	0.66206	D	-0.195903848770706	0.33304	1.887959	-0.176973184716431	0.32385	1.84195	0.999991459268569	0.74766	0.695654	0.57023	0	0.588015	0.36545	0	0.723109	0.80598	0	0.604944	0.38103	0	.	.	4.39	4.39	0.52211	5.776000	0.68576	7.625000	0.62478	-0.108000	0.15293	1.000000	0.71638	1.000000	0.68203	0.004000	0.06068	0.0:0.0:0.0:1.0	13.567	0.61287	970	0.06235	EGF-like domain|EGF-like calcium-binding domain|EGF-like domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.022750	0.020408	0.020436	0.032164	0.100000	0.025862	0.018750	0.011364	0.1	1277.14	49	chr22	46397724	.	T	C	1277.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-1.031;DP=370;ExcessHet=0.2348;FS=8.594;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=13.17;ReadPosRankSum=-0.773;SOR=0.227	GT:AD:DP:GQ:PL	0/1:20,29:49:99:802,0,559	8	0	2	0
chr22	49922288	49922325	CCTCAGCAGTCAGGACCGGCCTCTCCGATTCTTACCCG	0	exonic	CRELD2	.	.	.	.	435	791	175	16	105	312	0.115707	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	5625.99	88	chr22	49922288	.	CCTCAGCAGTCAGGACCGGCCTCTCCGATTCTTACCCG	*	5625.99	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-0.35;DP=718;ExcessHet=0.0135;FS=5.172;InbreedingCoeff=0.5238;MLEAC=2;MLEAF=0.1;MQ=59.91;MQRankSum=0;QD=15.85;ReadPosRankSum=-1.306;SOR=0.471	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:54,34:88:99:1|0:49922276_G_T:1243,0,2156:49922276	8	0	2	0
chr22	49922304	49922304	C	0	exonic	CRELD2	.	.	.	.	445	520	288	49	220	606	0.270687	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3	12080.7	73	chr22	49922304	.	C	*	12080.7	.	AC=6;AF=0.3;AN=20;BaseQRankSum=1.08;DP=764;ExcessHet=0.0952;FS=0.682;InbreedingCoeff=0.3407;MLEAC=6;MLEAF=0.3;MQ=60;MQRankSum=0;QD=18.76;ReadPosRankSum=1.16;SOR=0.667	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:0,34:73:99:0|1:49922276_G_T:2940,1560,1619:49922276	6	2	2	0
chr22	50572903	50572903	C	T	exonic	CPT1B	.	nonsynonymous SNV	CPT1B:NM_001145134:exon10:c.G1222A:p.A408T,CPT1B:NM_001145137:exon10:c.G1324A:p.A442T,CPT1B:NM_001145135:exon11:c.G1324A:p.A442T,CPT1B:NM_004377:exon11:c.G1324A:p.A442T,CPT1B:NM_152245:exon11:c.G1324A:p.A442T,CPT1B:NM_152246:exon11:c.G1324A:p.A442T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.243	0.0601826744322	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1247337562	2.744e-06	3.42e-06	1.363e-06	4.142e-06	2.32e-05	6.4e-07	4.3e-07	3.85e-06	1.44e-06	0	0	0	0	0	0	0	3.324e-05	2.32e-05	6.569e-06	6.566e-06	1.284e-05	0	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.22	0.18956	T	0.247	0.25135	T	0.287	0.32229	B	0.217	0.37636	B	0.000074	0.52346	D	0.170615	0.99816	0.44581	D	0.55	0.14455	N	-2.47	0.88997	D	-0.38	0.18248	N	0.35	0.40364	-0.4616	0.70014	T	0.464	0.79273	T	10	0.26291424	0.43765	T	0.060183	0.67916	D	0.243	0.54921	0.57	0.69299	0.838405115158	0.83686	0.5926167342360834	0.59191	.	.	0.540082097054	0.44456	T	0.381032	0.74344	T	-0.0669955	0.41805	T	-0.152483	0.59023	T	0.253366918699887	0.23023	T	0.954805	0.82790	D	0.08403632	0.19431	0.11395912	0.27505	0.08403632	0.19431	0.11395912	0.27505	-8.13	0.61953	D	.	.	0.091	0.27702	B	.;.;.;.;.	.;.;.;.;.	3.732909	0.53412	23.4	0.99413821022577464	0.63405	0.88740	0.48813	D	AEFDBI	0.252380	0.37208	N	-0.310700526235894	0.28741	1.587786	-0.182173325228077	0.32191	1.829041	0.00922569437812714	0.11818	0.67177	0.52595	0	0.702456	0.74545	0	0.570548	0.19454	0	0.567892	0.33627	0	.	.	4.98	1.52	0.22158	2.924000	0.48572	2.629000	0.33681	0.583000	0.30283	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.2936:0.6241:0.0:0.0824	7.337	0.25788	584	0.69381	Choline/carnitine acyltransferase domain;Choline/carnitine acyltransferase domain;Choline/carnitine acyltransferase domain;Choline/carnitine acyltransferase 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	0.000518	0.000000	0.000000	0.003497	0.000000	0.000000	0.000000	0.000000	0.05	569.43	48	chr22	50572903	.	C	T	569.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.358;DP=390;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.86;ReadPosRankSum=1.39;SOR=0.56	GT:AD:DP:GQ:PL	0/1:25,23:48:99:581,0,667	9	0	1	0
chrX	10469688	10469688	G	A	exonic	MID1	.	nonsynonymous SNV	MID1:NM_001193279:exon6:c.C1294T:p.L432F,MID1:NM_001193280:exon6:c.C1180T:p.L394F,MID1:NM_001193278:exon7:c.C1447T:p.L483F	Opitz GBBB syndrome, type I, X-linked recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.822e-06	1.821e-06	1.361e-06	2.752e-06	1.847e-05	3e-07	1.1e-07	.	.	0	0	0	0	0	0	1.188e-06	0	1.847e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.215	0.26306	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.06	0.03175	.	.	.	.	.	.	.	0.049869597	0.04636	T	.	.	.	.	.	.	.	0.228066490088	0.22430	.	.	.	.	.	.	.	0.006829	0.06256	T	-0.218282	0.18229	T	-0.551324	0.17198	T	.	.	.	0.334067	0.07092	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.144	0.31708	B	.	.	1.071713	0.14539	11.11	0.85981199067195402	0.16236	0.02091	0.06209	N	AEFBI	.	.	.	.	.	.	.	.	.	0.999612355279754	0.40981	.	.	.	.	.	.	.	.	.	.	.	.	0.283609	0.34178	4.85	0.652	0.16995	0.121000	0.15496	0.832000	0.21958	0.676000	0.76740	0.066000	0.21956	0.096000	0.22607	0.995000	0.73285	0.4727:0.0:0.3766:0.1507	5.068	0.13928	505	0.75648	.	.	.	.	.	.	Uncertain significance	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	.	.	.	.	.	.	.	.	0.4	920.64	163	chrX	10469688	.	G	A	920.64	.	AC=8;AF=0.4;AN=20;BaseQRankSum=-3.436;DP=881;ExcessHet=10.3881;FS=119.423;InbreedingCoeff=-0.6423;MLEAC=8;MLEAF=0.4;MQ=60;MQRankSum=0;QD=1.17;ReadPosRankSum=0.916;SOR=9.766	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:142,21:163:11:0|1:10469688_G_A:11,0,5360:10469688	2	0	8	0
chrX	10469690	10469690	T	C	exonic	MID1	.	nonsynonymous SNV	MID1:NM_001193279:exon6:c.A1292G:p.Y431C,MID1:NM_001193280:exon6:c.A1178G:p.Y393C,MID1:NM_001193278:exon7:c.A1445G:p.Y482C	Opitz GBBB syndrome, type I, X-linked recessive	.	.	.	.	.	.	.	0.0842	0.246	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0012	0.0089	0.0017	0	0.0014	0.0011	0.0011	0.0013	0.0013	0.0011	5.717e-05	0.0005	0.0003	0	0	0.0014	0.0011	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.007	0.69154	D	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.611	0.62781	.	.	.	.	.	.	.	0.5160695	0.62373	D	.	.	.	.	.	.	.	0.702451314445	0.69986	.	.	.	.	.	.	.	0.029078	0.20915	T	-0.0458167	0.45080	T	-0.303589	0.44343	T	.	.	.	0.416058	0.10924	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	0.48469	B	.	.	1.822216	0.23154	15.91	0.93045119261725329	0.22651	0.71697	0.35125	D	AEFBI	.	.	.	.	.	.	.	.	.	0.99999824567079	0.74766	.	.	.	.	.	.	.	.	.	.	.	.	0.483522	0.39157	5.6	5.6	0.84997	3.630000	0.54014	4.911000	0.45953	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0763:0.0:0.9237	10.887	0.46181	505	0.75648	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4	1125.6	164	chrX	10469690	.	T	C	1125.6	.	AC=8;AF=0.4;AN=20;BaseQRankSum=-3.496;DP=905;ExcessHet=10.3881;FS=128.174;InbreedingCoeff=-0.638;MLEAC=8;MLEAF=0.4;MQ=60;MQRankSum=0;QD=1.4;ReadPosRankSum=1.08;SOR=9.981	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:143,21:164:9:0|1:10469688_G_A:9,0,5367:10469688	2	0	8	0
chrX	10469693	10469693	T	C	exonic	MID1	.	nonsynonymous SNV	MID1:NM_001193279:exon6:c.A1289G:p.E430G,MID1:NM_001193280:exon6:c.A1175G:p.E392G,MID1:NM_001193278:exon7:c.A1442G:p.E481G	Opitz GBBB syndrome, type I, X-linked recessive	.	.	.	.	.	.	.	1.0000	0.956	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0.0024	0.0002	0	0.0002	0.0001	0.0001	0.0002	0.0002	0.0001	0	0.0002	0	0	0	0.0002	0.0002	3.742e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.153	0.32144	T	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.203	0.22486	.	.	.	.	.	.	.	0.24297184	0.41502	T	.	.	.	.	.	.	.	0.747603607226	0.74533	.	.	.	.	.	.	.	0.021315	0.16623	T	0.0253054	0.55096	T	-0.201427	0.54511	T	.	.	.	0.294771	0.05441	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.188	0.40457	B	.	.	5.344784	0.89672	31	0.96935891014238906	0.31676	0.98570	0.84213	D	AEFBI	.	.	.	.	.	.	.	.	.	0.999999999998814	0.74766	.	.	.	.	.	.	.	.	.	.	.	.	0.899241	0.56623	5.6	5.6	0.84997	7.515000	0.80659	7.688000	0.65646	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:0.0:1.0	14.867	0.70064	505	0.75648	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.25	855.13	159	chrX	10469693	.	T	C	855.13	.	AC=5;AF=0.25;AN=20;BaseQRankSum=-3.741;DP=818;ExcessHet=2.8389;FS=132.372;InbreedingCoeff=-0.3327;MLEAC=5;MLEAF=0.25;MQ=60;MQRankSum=0;QD=1.56;ReadPosRankSum=0.056;SOR=9.269	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:138,21:159:23:0|1:10469688_G_A:23,0,5258:10469688	5	0	5	0
chrX	19670872	19670872	A	T	exonic	SH3KBP1	.	startloss	SH3KBP1:NM_001184960:exon1:c.T2A:p.M1?,SH3KBP1:NM_001353897:exon1:c.T2A:p.M1?	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.335	0.70525855371	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.015	0.61642	D	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	0.93	0.44065	T	0.92	0.01573	N	0.897	0.89689	-0.6039	0.64656	T	0.234	0.60112	T	8	0.99084127	0.99597	D	0.705259	0.97594	D	0.335	0.65718	0.891	0.97367	0.870825782553	0.86956	.	.	.	.	.	.	.	.	.	.	-0.135806	0.30560	T	-0.432852	0.29611	T	0.917128324508667	0.57483	D	0.9	0.65058	D	.	.	.	.	.	.	.	.	-4.286	0.27980	T	.	.	.	.	.	.	.	2.466728	0.31786	18.85	0.94594489098654544	0.25149	0.93989	0.59779	D	ALL	.	.	.	.	.	.	.	.	.	1.0	0.98316	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.77	5.77	0.91077	6.199000	0.72039	11.203000	0.89108	0.754000	0.88378	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	1.0:0.0:0.0:0.0	14.693	0.68712	256	0.89942	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	1163.43	78	chrX	19670872	.	A	T	1163.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.748;DP=357;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.92;ReadPosRankSum=-0.756;SOR=0.669	GT:AD:DP:GQ:PL	0/1:34,44:78:99:1175,0,850	9	0	1	0
chrX	24364318	24364336	CCTGCTCTAGCTGCTGCTG	0	exonic	SUPT20HL1	.	.	.	.	394	1076	19	5	28	57	0.0132967	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	516.19	42	chrX	24364318	.	CCTGCTCTAGCTGCTGCTG	*	516.19	.	AC=4;AF=0.2;AN=20;DP=658;ExcessHet=0.0135;FS=6.879;InbreedingCoeff=0.5238;MLEAC=4;MLEAF=0.2;MQ=60;MQRankSum=0;QD=4.23;ReadPosRankSum=3.91;SOR=1.071	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:32,10:42:99:.:.:998,0,2012:.	7	1	2	0
chrX	47585624	47585624	G	A	exonic	TIMP1	.	nonsynonymous SNV	TIMP1:NM_003254:exon5:c.G410A:p.R137Q	.	416	1105	1	0	0	1	0.000452284	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	0.0586425759986	.	.	1.583e-05	0	0	0	0	2.765e-05	0	0	3.84e-05	1	26028	rs777619063	1.76e-05	1.701e-05	1.735e-05	1.815e-05	2.251e-05	1.1e-05	9.08e-06	1.406e-05	1.16e-05	0	0	0	0	0	0	2.251e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.155	0.26085	T	0.266	0.22627	T	0.092	0.25296	B	0.004	0.10090	B	0.484442	0.05000	N	1.333290	1	0.08975	N	1.16	0.29674	L	-3.45	0.94469	D	-1.16	0.31981	N	0.033	0.00882	-0.2890	0.75293	T	0.548	0.83422	D	10	0.09915224	0.17975	T	0.058643	0.67390	D	0.258	0.56959	.	.	0.716283694267	0.71379	0.5470285922204727	0.54628	0.334639800498	0.35475	0.24970947206	0.03737	T	0.631595	0.88589	D	-0.011742	0.50020	T	-0.254643	0.49357	T	0.153419673442841	0.17373	T	0.763624	0.39028	T	0.1721012	0.37881	0.120657034	0.29116	0.1721012	0.37881	0.120657034	0.29115	-5.864	0.45127	T	.	.	0.081	0.08465	B	.;.	.;.	1.350294	0.17577	13.25	0.98812031197524197	0.46639	0.03467	0.08621	N	AEFDGBCI	.	.	.	.	.	.	.	.	.	0.999990632467258	0.74766	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.29	-4.22	0.03541	-0.494000	0.06532	0.128000	0.15008	0.670000	0.69193	0.001000	0.13787	0.000000	0.08366	0.978000	0.57271	0.4854:0.1274:0.2554:0.1318	2.155	0.03578	541	0.72942	Netrin domain;Netrin 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	0.000689	0.000000	0.000000	0.000000	0.000000	0.000000	0.004425	0.000000	0.05	1702.43	120	chrX	47585624	.	G	A	1702.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=3.32;DP=470;ExcessHet=0;FS=1.459;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.19;ReadPosRankSum=0.717;SOR=0.899	GT:AD:DP:GQ:PL	0/1:58,62:120:99:1714,0,1225	9	0	1	0
chrX	49178082	49178082	C	T	exonic	PRICKLE3	.	nonsynonymous SNV	PRICKLE3:NM_001307979:exon7:c.G662A:p.R221H,PRICKLE3:NM_006150:exon7:c.G866A:p.R289H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.601	.	.	0.00317881	0.0010	0	0	0	0	2.198e-05	0	0.0145	0.001229	190	154602	rs782568147	0.0006	0.0006	0.0004	0.0010	0.0115	0.0005	0.0005	0.0107	0.0104	3.898e-05	0	0	0	0	0.0003	1.334e-05	0.0008	0.0115	0.0003	0.0003	0.0002	0.0005	0.0107	0.0002	0.0002	0.0077	0.0067	3.199e-05	0	0	0	0	0	0	0	0	0.0107	.	.	.	0.001	0.92824	D	1.0	0.90584	D	0.992	0.80445	D	0.029851	0.25394	N	0.195727	1	0.81001	D	3.04	0.86592	M	-2.27	0.87433	D	.	.	.	0.247	0.27910	0.623	0.92193	D	0.777	0.92415	D	10	0.012093872	0.00261	T	.	.	.	.	.	0.477	0.55502	0.546349033029	0.54290	0.4699079486218128	0.46909	.	.	0.754472136497	0.75107	T	0.645958	0.89198	D	-0.321791	0.06752	T	-0.223976	0.52353	T	0.298052274499515	0.24923	T	0.944206	0.78893	D	0.3708152	0.58646	0.42456776	0.66292	0.3708152	0.58646	0.42456776	0.66292	-9.083	0.68229	D	.	.	0.274	0.50754	B	.;.;.	.;.;.	4.314309	0.65983	24.9	0.99883031657004795	0.95892	0.93812	0.59262	D	AEFBHCI	.	.	.	.	.	.	.	.	.	0.999999999478884	0.74766	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.89	4.03	0.46115	6.018000	0.70464	3.213000	0.36811	-0.218000	0.08083	1.000000	0.71638	1.000000	0.68203	0.969000	0.54022	0.0:0.8995:0.0:0.1005	10.342	0.43069	33	0.98110	Zinc finger, LIM-type|Zinc finger, LIM-type|Zinc finger, LIM-type|LIM2 prickle;Zinc finger, LIM-type|Zinc finger, LIM-type|Zinc finger, LIM-type|LIM2 prickle;Zinc finger, LIM-type|Zinc finger, LIM-type|Zinc finger, LIM-type|LIM2 prickle	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	1560.43	129	chrX	49178082	.	C	T	1560.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.792;DP=448;ExcessHet=0;FS=1.439;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.1;ReadPosRankSum=0.134;SOR=0.888	GT:AD:DP:GQ:PL	0/1:66,63:129:99:1572,0,1764	9	0	1	0
chrX	54923239	54923239	G	A	exonic	TRO	.	nonsynonymous SNV	TRO:NM_001039705:exon3:c.G707A:p.G236D,TRO:NM_016157:exon3:c.G707A:p.G236D,TRO:NM_177556:exon3:c.G707A:p.G236D	.	432	1086	3	1	0	5	0.00229674	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.119	0.0186922391521	9.7e-05	0.0010596	0.0002	0	0	0	0	4.323e-05	0	0.0015	0.0001746	27	154602	rs374465129	6.557e-05	6.556e-05	6.125e-05	7.428e-05	0.0011	5.314e-05	4.883e-05	0.0008	0.0008	0	0	0	0	0	0.0010	2.375e-06	0.0002	0.0011	3.593e-05	4.358e-05	2.573e-05	5.953e-05	0.0015	1.139e-05	6.66e-06	0.0005	0.0003	0	0	0	0	0	0	0	0	0	0.0015	0.006	0.91255	D	0.053	0.92824	T	0.987	0.61912	D	0.672	0.53180	P	.	.	.	.	0.999987	0.26361	N	1.905	0.50856	L	0.7	0.61677	T	-5.15	0.83357	D	0.069	0.32591	-1.0035	0.28903	T	0.141	0.46110	T	9	0.010899931	0.00277	T	0.018692	0.40835	T	0.119	0.33137	.	.	0.363158594168	0.35926	0.06763277267137109	0.06701	0.198132890157	0.22192	0.432678818703	0.29574	T	0.111761	0.51817	T	-0.433075	0.01421	T	-0.424938	0.30510	T	0.241990615110049	0.22511	T	0.737626	0.39577	T	0.2581469	0.48862	0.27122822	0.53021	0.2581469	0.48862	0.27122822	0.53020	-3.79	0.20655	T	.	.	0.340	0.55896	B	.;.;.;.;.	.;.;.;.;.	1.928570	0.24491	16.42	0.98992888954538183	0.49983	0.44868	0.27413	N	AEFBI	.	.	.	.	.	.	.	.	.	0.879168098366055	0.25581	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.03	2.14	0.26518	3.357000	0.51997	2.029000	0.30245	-0.262000	0.06890	1.000000	0.71638	0.997000	0.33255	0.627000	0.32078	0.0:0.0:0.7128:0.2872	6.519	0.21463	203	0.92088	.;.;.;.;.	.	.	.	.	.	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	0.001376	0.000000	0.000000	0.000000	0.000000	0.000000	0.004425	0.005263	0.05	2044.43	146	chrX	54923239	.	G	A	2044.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.19;DP=467;ExcessHet=0;FS=8.722;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14;ReadPosRankSum=1.66;SOR=0.452	GT:AD:DP:GQ:PL	0/1:73,73:146:99:2056,0,1998	9	0	1	0
chrX	55146104	55146104	G	A	exonic	FAM104B	.	stopgain	FAM104B:NM_001166700:exon3:c.C331T:p.R111X,FAM104B:NM_001166701:exon3:c.C328T:p.R110X,FAM104B:NM_001166702:exon3:c.C319T:p.R107X,FAM104B:NM_001166703:exon3:c.C325T:p.R109X	.	438	7	893	184	0	1261	0.98902	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0005	0.0042	0	0	0.0002	7.025e-05	0	0.0001	0.0310669	4803	154602	rs1047054	7.297e-06	9.106e-06	9.533e-06	2.762e-06	3.791e-05	3.14e-06	2.27e-06	6.14e-06	2.3e-06	3.791e-05	0	0	0	0	0	5.942e-06	0	3.701e-05	1.802e-05	1.746e-05	1.286e-05	3.013e-05	0.0004	2.99e-06	1.12e-06	.	.	3.282e-05	0	0	0	0	0	0	0	0	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.984587	0.24787	N	.	.	.	.	.	.	.	.	.	0.121	0.18512	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.334032	0.85436	D	0.242037	0.85245	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.	.;.;.	4.503254	0.70449	25.5	0.92570320911590998	0.22025	0.23489	0.22092	N	AEFDGBIJ	.	.	.	.	.	.	.	.	.	0.999986651300857	0.51787	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.59	0.637	0.16907	1.269000	0.32677	-0.938000	0.06858	0.596000	0.33519	1.000000	0.71638	0.000000	0.08366	0.291000	0.24285	0.0:0.0:0.6198:0.3802	4.504	0.11285	314	0.87270	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.069015	0.068027	0.074212	0.055556	0.000000	0.094118	0.048673	0.068421	0.6	158397.0	692	chrX	55146104	.	G	A	158397.0	.	AC=12;AF=0.6;AN=20;BaseQRankSum=0.32;DP=6323;ExcessHet=10.3881;FS=0;InbreedingCoeff=-0.6653;MLEAC=12;MLEAF=0.6;MQ=60;MQRankSum=0;QD=25.85;ReadPosRankSum=0.287;SOR=0.699	GT:AD:DP:GQ:PL	0/1:152,540:692:99:16292,0,2564	0	2	8	0
chrX	55146139	55146139	G	A	exonic	FAM104B	.	nonsynonymous SNV	FAM104B:NM_001166700:exon3:c.C296T:p.T99I,FAM104B:NM_001166701:exon3:c.C293T:p.T98I,FAM104B:NM_001166702:exon3:c.C284T:p.T95I,FAM104B:NM_001166703:exon3:c.C290T:p.T97I	.	392	597	530	3	0	536	0.309827	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.027	0.00183666452811	.	.	1.173e-05	0	0	0	0	2.144e-05	0	0	0.0003842	10	26028	rs111573608	0	2.735e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	8.719e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	.	.	.	1.2	0.37405	T	1.24	0.01024	N	0.218	0.30461	-0.9951	0.31272	T	0.031	0.13330	T	9	0.02422443	0.00659	T	0.001837	0.03193	T	0.027	0.05988	.	.	0.107399877778	0.10242	0.2636019881297539	0.26273	0.0855686498455	0.09666	.	.	.	.	.	.	-0.525263	0.00410	T	-0.99228	0.00154	T	0.0269564041948217	0.01537	T	0.618838	0.26722	T	.	.	.	.	.	.	.	.	-2.987	0.10042	T	.	.	0.077	0.10159	B	.;.;.	.;.;.	-0.509590	0.01836	0.146	0.55558757236298129	0.05367	0.01261	0.04425	N	AEFDGBIJ	.	.	.	.	.	.	.	.	.	0.999998720991634	0.74766	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.6	-3.2	0.04838	0.118000	0.15436	-7.508000	0.01142	-0.947000	0.02050	0.987000	0.36337	0.000000	0.08366	0.919000	0.45453	0.5556:0.0:0.4444:0.0	6.324	0.20437	314	0.87270	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.018776	0.006803	0.014842	0.027668	0.000000	0.023529	0.022124	0.021053	0.3333	11747.7	759	chrX	55146139	.	G	A	11747.7	.	AC=6;AF=0.333;AN=18;BaseQRankSum=-0.35;DP=6406;ExcessHet=4.5998;FS=0;InbreedingCoeff=-0.4815;MLEAC=6;MLEAF=0.333;MQ=60;MQRankSum=0;QD=2.98;ReadPosRankSum=1.78;SOR=0.663	GT:AD:DP:GQ:PL	0/1:655,104:759:99:1034,0,18878	3	0	6	1
chrX	55146173	55146173	G	A	exonic	FAM104B	.	nonsynonymous SNV	FAM104B:NM_001166700:exon3:c.C262T:p.P88S,FAM104B:NM_001166701:exon3:c.C259T:p.P87S,FAM104B:NM_001166702:exon3:c.C250T:p.P84S,FAM104B:NM_001166703:exon3:c.C256T:p.P86S	.	395	510	614	3	0	620	0.378049	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.021	0.00397070644289	.	.	0	0	0	0	0	0	0	0	0.0018057	47	26028	rs113745415	0	9.135e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	8.72e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.1	0.44029	T	0.019	0.59159	D	0.137	0.27402	B	0.013	0.16460	B	.	.	.	.	1	0.08975	N	.	.	.	1.03	0.40469	T	-0.15	0.09297	N	0.133	0.30461	-1.0449	0.15854	T	0.046	0.19680	T	9	0.10664967	0.19773	T	0.003971	0.09400	T	0.021	0.04004	.	.	0.0986583533028	0.09354	0.17703511721202211	0.17622	0.085900391515	0.09707	.	.	.	.	.	.	-0.47977	0.00741	T	-0.926933	0.00345	T	0.15306082367897	0.17345	T	0.714029	0.35027	T	.	.	.	.	.	.	.	.	-2.918	0.09324	T	.	.	0.099	0.18247	B	.;.;.	.;.;.	1.416818	0.18331	13.68	0.99268186498303135	0.57457	0.22113	0.21636	N	AEFDGBIJ	.	.	.	.	.	.	.	.	.	0.999986653019121	0.51787	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.6	0.635	0.16895	0.918000	0.28299	0.017000	0.13531	0.596000	0.33519	0.999000	0.42656	0.000000	0.08366	0.033000	0.13494	0.0:0.0:0.6213:0.3787	4.527	0.11390	314	0.87270	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.011073	0.020408	0.009276	0.003953	0.000000	0.035294	0.013274	0.005263	0.3889	17194.3	727	chrX	55146173	.	G	A	17194.3	.	AC=7;AF=0.389;AN=18;BaseQRankSum=-0.183;DP=6264;ExcessHet=7.0302;FS=0.657;InbreedingCoeff=-0.6;MLEAC=7;MLEAF=0.389;MQ=60;MQRankSum=0;QD=3.88;ReadPosRankSum=-1.269;SOR=0.764	GT:AD:DP:GQ:PL	0/1:611,116:727:99:2078,0,18832	2	0	7	1
chrX	55146197	55146197	G	A	exonic	FAM104B	.	stopgain	FAM104B:NM_001166699:exon3:c.C238T:p.Q80X,FAM104B:NM_001166700:exon3:c.C238T:p.Q80X,FAM104B:NM_001166701:exon3:c.C235T:p.Q79X,FAM104B:NM_001166702:exon3:c.C226T:p.Q76X,FAM104B:NM_001166703:exon3:c.C232T:p.Q78X,FAM104B:NM_138362:exon3:c.C235T:p.Q79X	.	397	483	637	5	0	647	0.401116	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0009	0.0037	0.0002	0.0034	0.0004	0.0003	0	0.0012	0.0033426	87	26028	rs113263757	2.052e-05	0.0007	3.012e-05	0	0.0002	1.343e-05	1.147e-05	5.37e-05	3.17e-05	0.0002	0	0	0.0001	0	0	1.458e-05	4.432e-05	1.939e-05	0	5.238e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	0.066869	0.21780	U	0.325359	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.281	0.36359	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.166988	0.70845	D	0.00208969	0.70471	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerant;.;Tolerant;.;.	High;.;High;.;.	5.479427	0.91365	32	0.96222129513840093	0.29091	0.25851	0.22822	N	AEFDGBIJ	.	.	.	.	.	.	.	.	.	0.999994922950989	0.74766	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.6	1.6	0.22686	1.881000	0.39273	1.530000	0.27153	0.596000	0.33519	0.820000	0.29989	0.004000	0.18990	0.022000	0.11911	0.0:0.0:1.0:0.0	6.091	0.19219	314	0.87270	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.038244	0.034014	0.051948	0.011858	0.000000	0.058824	0.026549	0.036842	0.4	18556.0	651	chrX	55146197	.	G	A	18556.0	.	AC=8;AF=0.4;AN=20;BaseQRankSum=1.77;DP=5678;ExcessHet=10.3881;FS=1.386;InbreedingCoeff=-0.6667;MLEAC=8;MLEAF=0.4;MQ=60;MQRankSum=0;QD=4.24;ReadPosRankSum=0.06;SOR=0.804	GT:AD:DP:GQ:PL	0/1:547,104:651:99:1947,0,17379	2	0	8	0
chrX	55146212	55146212	C	T	exonic	FAM104B	.	nonsynonymous SNV	FAM104B:NM_001166699:exon3:c.G223A:p.D75N,FAM104B:NM_001166700:exon3:c.G223A:p.D75N,FAM104B:NM_001166701:exon3:c.G220A:p.D74N,FAM104B:NM_001166702:exon3:c.G211A:p.D71N,FAM104B:NM_001166703:exon3:c.G217A:p.D73N,FAM104B:NM_138362:exon3:c.G220A:p.D74N	.	432	10	1015	52	13	1132	0.982441	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.012	0.00302221843962	.	0.0013245	0.0001	0.0014	0	0	0	2.118e-05	0	0	0.0081067	211	26028	rs1047042	4.61e-06	4.563e-06	5.457e-06	2.843e-06	3.873e-05	1.35e-06	9.8e-07	6.25e-06	2.34e-06	3.873e-05	0	5.196e-05	0	0	0	1.202e-06	0	3.766e-05	9.039e-06	8.741e-06	1.287e-05	0	9.612e-05	0	0	.	.	0	0	9.612e-05	0	0	0	0	0	0	0	0.675	0.04495	T	1.0	0.06345	T	0.003	0.11197	B	0.0	0.04355	B	0.171170	0.17370	N	0.505297	1	0.08975	P	-0.49	0.02651	N	1.04	0.40218	T	0.87	0.01688	N	0.132	0.13626	-1.0454	0.15709	T	0.035	0.15160	T	9	0.0060353875	0.00136	T	0.003022	0.06487	T	0.012	0.01476	0.247	0.18293	0.0806252709748	0.07271	0.0651596601341745	0.06454	0.0775316632676	0.08717	0.25642067194	0.04473	T	0.008956	0.08187	T	-0.596363	0.00153	T	-1.09441	0.00031	T	0.0048729239977625	0.00052	T	0.519848	0.16911	T	0.03745953	0.04805	0.041539483	0.04745	0.03745953	0.04805	0.041539483	0.04745	-3.393	0.14963	T	.	.	0.058	0.00614	B	.;.;.;.;.	.;.;.;.;.	-0.711233	0.01295	0.069	0.1342819324597182	0.00264	0.00118	0.00744	N	AEFDGBIJ	.	.	.	.	.	.	.	.	.	0.999988775956904	0.51787	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.59	-1.04	0.09555	0.059000	0.14199	-2.996000	0.03156	-0.242000	0.07441	0.003000	0.16062	0.000000	0.08366	0.015000	0.10482	0.0:0.4679:0.0:0.5321	4.225	0.10030	314	0.87270	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.55	134143.0	565	chrX	55146212	.	C	T	134143.0	.	AC=11;AF=0.55;AN=20;BaseQRankSum=2.02;DP=5292;ExcessHet=15.1594;FS=0.71;InbreedingCoeff=-0.8182;MLEAC=11;MLEAF=0.55;MQ=60;MQRankSum=0;QD=26.73;ReadPosRankSum=1.7;SOR=0.564	GT:AD:DP:GQ:PL	0/1:137,428:565:99:13348,0,2509	0	1	9	0
chrX	55146242	55146242	C	T	exonic	FAM104B	.	nonsynonymous SNV	FAM104B:NM_001166699:exon3:c.G193A:p.G65S,FAM104B:NM_001166700:exon3:c.G193A:p.G65S,FAM104B:NM_001166701:exon3:c.G190A:p.G64S,FAM104B:NM_001166702:exon3:c.G181A:p.G61S,FAM104B:NM_001166703:exon3:c.G187A:p.G63S,FAM104B:NM_138362:exon3:c.G190A:p.G64S	.	381	695	446	0	0	446	0.242919	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.25	6121.17	451	chrX	55146242	.	C	T	6121.17	.	AC=5;AF=0.25;AN=20;BaseQRankSum=0.896;DP=4085;ExcessHet=2.8389;FS=0;InbreedingCoeff=-0.3339;MLEAC=5;MLEAF=0.25;MQ=60;MQRankSum=0;QD=2.81;ReadPosRankSum=0.288;SOR=0.605	GT:AD:DP:GQ:PL	0/1:357,94:451:99:1683,0,12083	5	0	5	0
chrX	55146247	55146247	G	C	exonic	FAM104B	.	nonsynonymous SNV	FAM104B:NM_001166699:exon3:c.C188G:p.P63R,FAM104B:NM_001166700:exon3:c.C188G:p.P63R,FAM104B:NM_001166701:exon3:c.C185G:p.P62R,FAM104B:NM_001166702:exon3:c.C176G:p.P59R,FAM104B:NM_001166703:exon3:c.C182G:p.P61R,FAM104B:NM_138362:exon3:c.C185G:p.P62R	.	398	590	530	4	0	538	0.313155	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.133	0.0130273709953	.	.	.	.	.	.	.	.	.	.	0.0032657	85	26028	rs111638770	9.115e-07	9.107e-07	1.361e-06	0	1.848e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.848e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.006	0.72224	D	0.752	0.77913	P	0.071	0.79672	B	0.181519	0.17089	U	0.482281	1	0.18198	N	1.79	0.46772	L	0.49	0.55775	T	-6.46	0.91956	D	0.329	0.36989	-0.9561	0.39898	T	0.213	0.57334	T	10	0.25765532	0.43183	T	0.013027	0.32109	T	0.133	0.36157	0.439	0.49321	0.176091768786	0.17195	0.15725273701375614	0.15646	0.462644719079	0.45794	0.299729704857	0.10360	T	0.09323	0.39168	T	-0.104812	0.35627	T	-0.388332	0.34746	T	0.953682541847229	0.64085	D	0.80372	0.51656	T	0.38991144	0.60026	0.48550862	0.70220	0.38991144	0.60026	0.48550862	0.70221	-3.385	0.15177	T	.	.	0.146	0.32275	B	.;.;.;.;.	.;.;.;.;.	2.836954	0.37416	20.5	0.99573153193770736	0.72501	0.41324	0.26632	N	AEFDGBI	.	.	.	.	.	.	.	.	.	0.999994922950989	0.74766	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.6	1.6	0.22686	2.239000	0.42728	2.405000	0.32612	0.596000	0.33519	0.999000	0.42656	0.987000	0.30940	0.973000	0.55318	0.0:0.0:1.0:0.0	6.091	0.19219	314	0.87270	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.013879	0.020408	0.018553	0.003953	0.000000	0.023529	0.013274	0.005263	0.35	12199.0	433	chrX	55146247	.	G	C	12199.0	.	AC=7;AF=0.35;AN=20;BaseQRankSum=-1.305;DP=3949;ExcessHet=7.0302;FS=0;InbreedingCoeff=-0.5385;MLEAC=7;MLEAF=0.35;MQ=60;MQRankSum=0;QD=4.67;ReadPosRankSum=0.28;SOR=0.652	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:379,54:433:99:0|1:55146247_G_C:1087,0,15432:55146247	3	0	7	0
chrX	55146252	55146252	-	T	exonic	FAM104B	.	frameshift insertion	FAM104B:NM_001166699:exon3:c.182_183insA:p.S61Rfs*13,FAM104B:NM_001166700:exon3:c.182_183insA:p.S61Rfs*13,FAM104B:NM_001166701:exon3:c.179_180insA:p.S60Rfs*13,FAM104B:NM_001166702:exon3:c.170_171insA:p.S57Rfs*13,FAM104B:NM_001166703:exon3:c.176_177insA:p.S59Rfs*13,FAM104B:NM_138362:exon3:c.179_180insA:p.S60Rfs*13	.	390	569	526	3	34	566	0.318563	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.35	12021.9	417	chrX	55146252	.	A	AT	12021.9	.	AC=7;AF=0.35;AN=20;BaseQRankSum=0.697;DP=3806;ExcessHet=7.0302;FS=0.667;InbreedingCoeff=-0.5385;MLEAC=7;MLEAF=0.35;MQ=60;MQRankSum=0;QD=4.91;ReadPosRankSum=-0.372;SOR=0.629	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:363,54:417:99:0|1:55146247_G_C:1135,0,14996:55146247	3	0	7	0
chrX	55146254	55146254	T	C	exonic	FAM104B	.	nonsynonymous SNV	FAM104B:NM_001166699:exon3:c.A181G:p.S61G,FAM104B:NM_001166700:exon3:c.A181G:p.S61G,FAM104B:NM_001166701:exon3:c.A178G:p.S60G,FAM104B:NM_001166702:exon3:c.A169G:p.S57G,FAM104B:NM_001166703:exon3:c.A175G:p.S59G,FAM104B:NM_138362:exon3:c.A178G:p.S60G	.	431	15	1050	26	0	1102	0.973498	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.075	0.0041360361776	.	.	0	0	0	0	0	0	0	0	0.0095666	249	26028	rs1047037	9.142e-07	4.651e-05	1.362e-06	0	1.191e-06	0	0	.	.	0	0	0	0	0	0	1.191e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	0.53172	D	0.115	0.36630	T	0.18	0.29046	B	0.013	0.26930	B	0.022656	0.26593	N	0.266251	1	0.08975	N	1.125	0.28843	L	0.62	0.53302	T	-3.25	0.65972	D	0.165	0.17691	-1.0460	0.15534	T	0.083	0.32556	T	10	0.08577216	0.14513	T	0.004136	0.09900	T	0.075	0.21907	0.066	0.00312	0.141422826196	0.13715	0.08695167493373998	0.08629	0.0811463258042	0.09130	0.299347400665	0.10303	T	0.051814	0.28986	T	-0.403148	0.02207	T	-0.816871	0.01517	T	0.062755441338216	0.07595	T	0.529347	0.19916	T	0.15294263	0.34692	0.18436645	0.41484	0.15294263	0.34692	0.18436645	0.41484	-4.147	0.26024	T	.	.	0.074	0.04932	B	.;.;.;.;.	.;.;.;.;.	0.505601	0.08746	5.521	0.88816084291515585	0.18278	0.01111	0.04064	N	AEFDGBI	.	.	.	.	.	.	.	.	.	0.999988486351367	0.51787	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.59	-0.917	0.09952	0.342000	0.19669	0.018000	0.13546	0.587000	0.30956	0.001000	0.13787	0.000000	0.08366	0.925000	0.46118	0.0:0.4736:0.0:0.5264	4.198	0.09911	314	0.87270	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.55	71226.0	403	chrX	55146254	.	T	C	71226.0	.	AC=11;AF=0.55;AN=20;BaseQRankSum=-0.498;DP=3799;ExcessHet=15.1594;FS=1.854;InbreedingCoeff=-0.8182;MLEAC=11;MLEAF=0.55;MQ=60;MQRankSum=0;QD=19.82;ReadPosRankSum=-1.02;SOR=0.524	GT:AD:DP:GQ:PL	0/1:175,228:403:99:6099,0,5442	0	1	9	0
chrX	55146256	55146256	G	-	exonic	FAM104B	.	frameshift deletion	FAM104B:NM_001166699:exon3:c.179delC:p.A60Efs*8,FAM104B:NM_001166700:exon3:c.179delC:p.A60Efs*8,FAM104B:NM_001166701:exon3:c.176delC:p.A59Efs*8,FAM104B:NM_001166702:exon3:c.167delC:p.A56Efs*8,FAM104B:NM_001166703:exon3:c.173delC:p.A58Efs*8,FAM104B:NM_138362:exon3:c.176delC:p.A59Efs*8	.	387	620	513	2	0	517	0.294252	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.35	11620.9	409	chrX	55146255	.	TG	T	11620.9	.	AC=7;AF=0.35;AN=20;BaseQRankSum=-0.137;DP=3477;ExcessHet=7.0302;FS=0.698;InbreedingCoeff=-0.5385;MLEAC=7;MLEAF=0.35;MQ=60;MQRankSum=0;QD=4.81;ReadPosRankSum=-0.267;SOR=0.643	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:356,53:409:99:0|1:55146247_G_C:1115,0,14758:55146247	3	0	7	0
chrX	55146275	55146275	T	G	exonic	FAM104B	.	nonsynonymous SNV	FAM104B:NM_001166699:exon3:c.A160C:p.I54L,FAM104B:NM_001166700:exon3:c.A160C:p.I54L,FAM104B:NM_001166701:exon3:c.A157C:p.I53L,FAM104B:NM_001166702:exon3:c.A148C:p.I50L,FAM104B:NM_001166703:exon3:c.A154C:p.I52L,FAM104B:NM_138362:exon3:c.A157C:p.I53L	.	427	21	1052	22	0	1096	0.963093	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.098	0.0118030854457	.	.	1.142e-05	0	0	0	0	2.088e-05	0	0	0.0196828	3043	154602	rs1047034	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.051	0.47828	T	0.105	0.26966	B	0.068	0.39904	B	0.152569	0.17919	U	0.451659	1	0.08975	N	1.955	0.52871	M	0.27	0.59176	T	-1.83	0.45042	N	0.551	0.57690	-0.8632	0.51032	T	0.155	0.48687	T	10	0.1871016	0.34206	T	0.011803	0.29782	T	0.098	0.28162	0.189	0.09907	0.0884992946249	0.08302	0.12338101866159702	0.12264	0.0928677804986	0.10486	0.449103206396	0.31821	T	0.163737	0.50891	T	-0.214808	0.18708	T	-0.546333	0.17678	T	0.224603921175003	0.21691	T	0.758424	0.38228	T	0.50850886	0.67592	0.29124478	0.55149	0.50850886	0.67593	0.29124478	0.55148	-2.996	0.10138	T	.	.	0.123	0.25689	B	.;.;.;.;.	.;.;.;.;.	1.130701	0.15173	11.64	0.8192711395344332	0.13930	0.34538	0.25091	N	AEFDGBI	.	.	.	.	.	.	.	.	.	0.999989777015944	0.51787	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.59	-1.26	0.08892	0.742000	0.25884	-6.329000	0.01429	-0.214000	0.08267	1.000000	0.71638	0.000000	0.08366	0.065000	0.16320	0.0:0.5197:0.0:0.4803	4.529	0.11402	314	0.87270	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.000688	0.000000	0.000000	0.000000	0.000000	0.000000	0.004425	0.000000	0.55	71590.0	324	chrX	55146275	.	T	G	71590.0	.	AC=11;AF=0.55;AN=20;BaseQRankSum=0.041;DP=2982;ExcessHet=15.1594;FS=7.491;InbreedingCoeff=-0.8182;MLEAC=11;MLEAF=0.55;MQ=60;MQRankSum=0;QD=25.64;ReadPosRankSum=-3.645;SOR=0.437	GT:AD:DP:GQ:PL	0/1:115,209:324:99:6207,0,2909	0	1	9	0
chrX	74591904	74591904	A	G	exonic	RLIM	.	nonsynonymous SNV	RLIM:NM_016120:exon4:c.T1411C:p.S471P,RLIM:NM_183353:exon5:c.T1411C:p.S471P	Mental retardation, X-linked 61, X-linked recessive	9	1217	293	0	3	296	0.107444	.	.	.	706313	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.240	.	.	.	0.0029	0.0116	0.0005	0	0.0003	0.0029	0	0.0019	0.0113453	1754	154602	rs201164156	0.0008	0.0027	0.0011	0	0.0013	0.0007	0.0007	0.0009	0.0008	0.0013	0.0003	0.0003	0.0002	0.0021	0.0008	0.0008	0.0009	0.0001	0.0005	0.0047	0.0008	0	0.0009	0.0004	0.0004	0.0004	0.0003	0.0006	0	0.0005	0.0004	0.0009	0.0005	0	0.0005	0.0007	0.0004	0.21	0.19639	T	0.328	0.18675	T	0.842	0.46562	P	0.1	0.30674	B	0.514165	0.11812	U	0.638142	1	0.08975	N	1.7	0.43825	L	-1.96	0.85091	D	-0.25	0.11008	N	0.207	0.22998	-0.7951	0.55432	T	0.216	0.57836	T	10	0.006244242	0.00141	T	.	.	.	0.240	0.54500	.	.	.	.	0.4665592874844735	0.46574	0.934645105114	0.71975	0.607906699181	0.54020	T	0.132362	0.46240	T	-0.0295646	0.47480	T	-0.280244	0.46779	T	0.0105822094544231	0.00148	T	0.430157	0.11673	T	0.09892091	0.23338	0.13853694	0.33082	0.09892091	0.23338	0.13853694	0.33082	-7.284	0.56081	T	0.3542269034747019	0.45119	0.098	0.16231	B	.;.	.;.	0.643466	0.10120	6.865	0.20867452940731573	0.00770	0.09317	0.15097	N	AEFGBCI	.	.	.	.	.	.	.	.	.	0.920848692020125	0.26649	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.66	0.088	0.13764	0.990000	0.29242	2.406000	0.32617	0.756000	0.94297	0.212000	0.24446	0.201000	0.23571	0.004000	0.06068	0.5962:0.4038:0.0:0.0	3.724	0.07997	99	0.95913	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0.100000	0.136054	0.068646	0.102767	0.071429	0.058824	0.132743	0.089474	0.4	6265.98	352	chrX	74591904	.	A	G	6265.98	.	AC=8;AF=0.4;AN=20;BaseQRankSum=-3.776;DP=1908;ExcessHet=10.3881;FS=2.691;InbreedingCoeff=-0.6667;MLEAC=8;MLEAF=0.4;MQ=58.48;MQRankSum=-11.5;QD=3.42;ReadPosRankSum=3.83;SOR=0.478	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:312,40:352:99:0|1:74591902_T_A:740,0,12952:74591902	2	0	8	0
chrX	74591957	74591957	C	T	exonic	RLIM	.	nonsynonymous SNV	RLIM:NM_016120:exon4:c.G1358A:p.S453N,RLIM:NM_183353:exon5:c.G1358A:p.S453N	Mental retardation, X-linked 61, X-linked recessive	10	1315	197	0	0	197	0.0696852	.	.	.	2752745	Intellectual_disability,_X-linked_61	MONDO:MONDO:0010506,MedGen:C4283894,OMIM:300978	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.158	0.22060859109	.	.	0	0	0	0	0	0	0	0	7.68e-05	2	26028	rs201787580	2.754e-06	0.0004	4.09e-06	0	3.589e-06	7.3e-07	2e-07	9.6e-07	2.7e-07	0	0	0	0	0	0	3.589e-06	0	0	2.789e-05	0.0021	3.904e-05	0	9.85e-05	7.41e-06	3.06e-06	6.46e-06	2.42e-06	0	0	9.85e-05	0	0	0	0	3.895e-05	0	0	0.257	0.16738	T	0.499	0.11227	T	0.0	0.02946	B	0.0	0.01387	B	0.016982	0.27835	N	0.389770	1	0.08975	N	0.685	0.16464	N	-1.6	0.82165	D	-0.42	0.14193	N	0.236	0.26596	-0.8724	0.50349	T	0.310	0.68066	T	10	0.122223884	0.23183	T	0.220609	0.87766	D	0.158	0.41098	.	.	0.557858568325	0.55445	0.312164728673577	0.31129	0.692380051853	0.60661	0.502812802792	0.39220	T	0.172441	0.52093	T	-0.174656	0.24534	T	-0.488658	0.23531	T	0.0512267297337718	0.05713	T	0.508649	0.16166	T	0.07587642	0.17124	0.10946825	0.26384	0.07587642	0.17124	0.10946825	0.26384	-6.705	0.51848	T	.	.	0.087	0.11606	B	.;.	.;.	0.832856	0.12043	8.599	0.64009249238066646	0.07376	0.44947	0.27430	N	AEFGBCI	.	.	.	.	.	.	.	.	.	0.995911489112744	0.34405	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.98	4.1	0.47196	0.741000	0.25870	0.022000	0.13604	0.599000	0.40250	0.101000	0.22814	0.000000	0.08366	0.960000	0.51673	0.0:0.8818:0.0:0.1182	7.602	0.27251	99	0.95913	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.004828	0.013605	0.001855	0.007905	0.000000	0.000000	0.008850	0.000000	0.3	3679.98	394	chrX	74591957	.	C	T	3679.98	.	AC=6;AF=0.3;AN=20;BaseQRankSum=-1.459;DP=1750;ExcessHet=4.5998;FS=3.02;InbreedingCoeff=-0.4286;MLEAC=6;MLEAF=0.3;MQ=58.76;MQRankSum=-13.15;QD=2.3;ReadPosRankSum=-2.776;SOR=1.089	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:362,32:394:99:0|1:74591902_T_A:254,0,15032:74591902	4	0	6	0
chrX	85345867	85345867	C	G	exonic	POF1B	.	nonsynonymous SNV	POF1B:NM_001307940:exon6:c.G716C:p.C239S,POF1B:NM_024921:exon6:c.G716C:p.C239S	Premature ovarian failure 2B	4	1501	12	5	0	22	0.00727513	.	.	.	352987	Premature_ovarian_failure_2B|not_provided	MONDO:MONDO:0010373,MedGen:C1845105,OMIM:300604|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.026	.	0.0088	0.00397351	0.0096	0.0017	0.0011	0	0.0166	0.0142	0.0101	0.0042	0.0085057	1315	154602	rs147563033	0.0092	0.0092	0.0093	0.0091	0.0105	0.0091	0.0090	0.0103	0.0102	0.0011	0.0024	0.0010	3.359e-05	0.0151	0.0052	0.0105	0.0070	0.0042	0.0066	0.0067	0.0067	0.0065	0.0106	0.0062	0.0061	0.0099	0.0096	0.0016	0	0.0031	0.0011	0	0.0137	0	0.0106	0.0033	0.0029	0.429	0.09572	T	0.791	0.04181	T	0.007	0.14184	B	0.006	0.12133	B	0.995461	0.08001	N	0.997829	1	0.08975	N	-0.205	0.04094	N	3.03	0.08898	T	0.35	0.03761	N	0.079	0.05414	-0.9142	0.46325	T	0.010	0.03492	T	10	0.0040031075	0.00077	T	.	.	.	0.026	0.05648	0.366	0.37361	0.177238962908	0.17366	0.16096798308850868	0.16017	0.185179823169	0.20821	0.35507184267	0.18666	T	0.109109	0.42270	T	-0.792882	0.00009	T	-0.900666	0.00498	T	0.00361283273125933	0.00038	T	0.19558	0.02146	T	0.07154347	0.15846	0.10647079	0.25614	0.047734335	0.08208	0.10647079	0.25614	-1.73	0.02447	T	.	.	0.080	0.08224	B	.;.	.;.	-0.132603	0.03453	0.637	0.16059575269840681	0.00416	0.38039	0.25898	N	AEFGCI	.	.	.	.	.	.	.	.	.	3.79943363162852E-5	0.03775	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.32	0.397	0.15537	0.664000	0.24749	1.994000	0.30091	-0.814000	0.03034	0.899000	0.31403	1.000000	0.68203	0.024000	0.12247	0.0:0.218:0.0:0.782	7.245	0.25292	877	0.30165	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0.006203	0.006803	0.005566	0.000000	0.000000	0.023529	0.000000	0.015789	0.05	1839.43	130	chrX	85345867	.	C	G	1839.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.511;DP=437;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.15;ReadPosRankSum=-0.724;SOR=0.648	GT:AD:DP:GQ:PL	0/1:60,70:130:99:1851,0,1493	9	0	1	0
chrX	101101134	101101134	A	G	exonic	CENPI	.	nonsynonymous SNV	CENPI:NM_001318523:exon1:c.A64G:p.S22G,CENPI:NM_006733:exon2:c.A64G:p.S22G,CENPI:NM_001318521:exon3:c.A64G:p.S22G	.	435	1082	3	2	0	7	0.00322432	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.048	0.00806711514515	.	.	0.0001	0	0	0	0	0.0001	0	0.0007	0.0001552	24	154602	rs756978716	0.0001	0.0001	8.167e-05	0.0002	0.0012	9.322e-05	8.723e-05	0.0007	0.0006	3.788e-05	0	0	0	7.404e-05	0.0012	5.702e-05	0.0003	0.0009	0.0001	0.0001	5.138e-05	0.0002	0.0011	6.098e-05	4.796e-05	0.0003	0.0002	3.239e-05	0	9.564e-05	0	0	0	0	0.0001	0	0.0011	0.006	0.61437	D	0.211	0.39040	T	0.379	0.34321	B	0.197	0.36707	B	0.161957	0.17635	N	0.623726	1	0.08975	N	2.32	0.66415	M	.	.	.	-3.75	0.71157	D	0.038	0.01203	-0.9782	0.35413	T	0.115	0.40740	T	9	0.05924046	0.07090	T	0.008067	0.21393	T	0.048	0.13305	0.586	0.71371	0.503490013456	0.49987	0.16220429147848664	0.16140	0.453547560882	0.45046	0.301502674818	0.10625	T	0.067462	0.34036	T	-0.486088	0.00683	T	-0.568416	0.15595	T	0.127370544891984	0.15137	T	0.69563	0.30512	T	0.14671522	0.33572	0.16325995	0.37881	0.14671522	0.33572	0.16325995	0.37880	-4.338	0.29285	T	.	.	0.103	0.18539	B	.;.;.;.;.	.;.;.;.;.	1.857358	0.23593	16.08	0.99089110128888491	0.52173	0.08005	0.13984	N	AEFGBI	.	.	.	.	.	.	.	.	.	0.99998778157432	0.51787	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.85	3.63	0.40741	1.532000	0.35634	4.268000	0.42834	0.665000	0.62972	0.015000	0.19116	0.342000	0.24428	0.438000	0.27627	0.7904:0.2096:0.0:0.0	7.786	0.28255	103	0.95740	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1138.43	97	chrX	101101134	.	A	G	1138.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.786;DP=402;ExcessHet=0;FS=0.843;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.74;ReadPosRankSum=0.647;SOR=0.553	GT:AD:DP:GQ:PL	0/1:56,41:97:99:1150,0,1631	9	0	1	0
chrX	107597478	107597478	G	T	exonic	FRMPD3	.	nonsynonymous SNV	FRMPD3:NM_032428:exon15:c.G1698T:p.M566I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.151	0.020221352277	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.68238	D	0.074	0.42976	T	.	.	.	.	.	.	0.000001	0.62929	D	0.059268	0.963695	0.26014	N	1.61	0.41143	L	0.92	0.44461	T	-1.07	0.27876	N	0.399	0.43995	-1.0040	0.28755	T	0.115	0.40808	T	8	0.29202157	0.46780	T	0.020221	0.42769	T	0.151	0.39764	0.187	0.09646	0.716984601551	0.71450	0.46247178280610884	0.46165	0.202117880483	0.22627	.	.	.	0.006972	0.14237	T	-0.15718	0.27196	T	-0.463555	0.26214	T	0.896074712276459	0.54773	D	0.835616	0.50622	T	0.79222447	0.83412	0.79564935	0.87997	0.79222447	0.83414	0.79564935	0.87998	-2.548	0.06118	T	.	.	0.616	0.80305	P	.;.	.;.	3.437893	0.47809	22.5	0.99145084450446896	0.53655	0.92829	0.56647	D	AEFDGBI	.	.	.	.	.	.	.	.	.	0.941971109108724	0.27501	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.93	4.93	0.64394	4.310000	0.58934	11.735000	0.95074	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:1.0:0.0	16.205	0.81944	26	0.98304	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	2326.43	172	chrX	107597478	.	G	T	2326.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.565;DP=487;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.53;ReadPosRankSum=0.135;SOR=0.706	GT:AD:DP:GQ:PL	0/1:87,85:172:99:2338,0,2446	9	0	1	0
chrX	107981733	107981733	G	C	exonic	TEX13B	.	nonsynonymous SNV	TEX13B:NM_031273:exon2:c.C395G:p.T132S	.	426	1040	29	27	0	83	0.0383726	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.034	.	0.0041	0.00715232	0.0107	0.0017	0.0012	0.0002	0.0208	0.0093	0.0230	0.0409	0.0098964	1530	154602	rs144538520	0.0074	0.0074	0.0067	0.0090	0.0357	0.0073	0.0072	0.0343	0.0338	0.0008	0.0011	0.0011	6.626e-05	0.0207	0.0136	0.0059	0.0069	0.0357	0.0059	0.0060	0.0054	0.0071	0.0334	0.0055	0.0054	0.0277	0.0256	0.0008	0	0.0027	0.0008	0.0003	0.0220	0.0183	0.0070	0.0046	0.0334	0.055	0.38407	T	0.072	0.43344	T	0.473	0.36591	P	0.19	0.36341	B	.	.	.	.	1	0.08975	N	1.7	0.43825	L	.	.	.	-1.94	0.45042	N	0.064	0.03613	-1.0435	0.16265	T	0.038	0.16505	T	8	0.0036247373	0.00066	T	.	.	.	0.034	0.08419	0.141	0.04462	.	.	0.05130291475236664	0.05072	0.454918704517	0.45175	0.351358294487	0.18122	T	0.014065	0.12045	T	-0.758781	0.00015	T	-0.836951	0.01145	T	0.004441021523127	0.00047	T	0.354465	0.08000	T	0.07995067	0.18293	0.07362963	0.16021	0.07995067	0.18293	0.07362963	0.16021	-6.018	0.46431	T	.	.	0.203	0.42720	B	.	.	-0.130754	0.03462	0.642	0.62979613999287676	0.07103	0.05061	0.10852	N	AEFBI	.	.	.	.	.	.	.	.	.	0.00245125484351227	0.09445	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.89	0.013	0.13417	0.707000	0.25379	-0.649000	0.08038	-0.139000	0.12461	0.001000	0.13787	0.000000	0.08366	0.002000	0.04165	0.3637:0.0:0.4321:0.2042	2.812	0.05111	18	0.98631	.	.	.	.	.	.	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	0.011042	0.000000	0.007421	0.015810	0.000000	0.000000	0.004425	0.036842	0.05	2342.43	209	chrX	107981733	.	G	C	2342.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.101;DP=541;ExcessHet=0;FS=1.704;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.21;ReadPosRankSum=0.422;SOR=0.855	GT:AD:DP:GQ:PL	0/1:118,91:209:99:2354,0,3332	9	0	1	0
chrX	111744726	111744728	ACC	-	exonic	ALG13	.	nonframeshift deletion	ALG13:NM_001099922:exon24:c.2754_2756del:p.P945del,ALG13:NM_001257231:exon24:c.2520_2522del:p.P867del	Epileptic encephalopathy, early infantile, 36, X-linked dominant	209	1301	2	3	7	15	0.00306513	.	.	.	488365	not_provided|Developmental_and_epileptic_encephalopathy,_36|not_specified|ALG13-related_disorder|Inborn_genetic_diseases	MedGen:C3661900|MONDO:MONDO:0010472,MedGen:C4317295,OMIM:300884,Orphanet:324422|MedGen:CN169374|.|MeSH:D030342,MedGen:C0950123	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	4.531e-05	0	0	0	0	8.02e-05	0	0	3.84e-05	1	26028	rs759349340	0.0016	0.0070	0.0022	0.0002	0.0025	0.0015	0.0015	0.0022	0.0020	0.0021	0.0010	0.0007	0.0010	0.0004	0.0009	0.0016	0.0017	0.0025	0.0010	0.0019	0.0013	0.0002	0.0023	0.0009	0.0008	0.0015	0.0013	0.0019	0	0.0009	0	0.0023	0.0003	0	0.0007	0.0009	0.0006	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	1558.39	112	chrX	111744725	.	TACC	T	1558.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.241;DP=517;ExcessHet=0;FS=0.696;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.3;ReadPosRankSum=-0.233;SOR=0.62	GT:AD:DP:GQ:PL	0/1:54,55:112:99:1570,0,1645	9	0	1	0
chrX	112809934	112809934	-	GGGG	exonic	AMOT	.	frameshift insertion	AMOT:NM_001113490:exon4:c.1589_1590insCCCC:p.E531Pfs*16,AMOT:NM_133265:exon5:c.362_363insCCCC:p.E122Pfs*16	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	33.39	38	chrX	112809934	.	T	TGGGG	33.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.128;DP=323;ExcessHet=0;FS=12.768;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=0.88;ReadPosRankSum=0.173;SOR=3.608	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:33,5:38:45:0|1:112809934_T_TGGGG:45,0,1347:112809934	9	0	1	0
chrX	112809937	112809940	CCCC	-	exonic	AMOT	.	frameshift deletion	AMOT:NM_001113490:exon4:c.1584_1587del:p.E528Dfs*51,AMOT:NM_133265:exon5:c.357_360del:p.E119Dfs*51	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05556	34.01	38	chrX	112809936	.	ACCCC	A	34.01	.	AC=1;AF=0.056;AN=18;BaseQRankSum=-3.2;DP=319;ExcessHet=0;FS=12.768;InbreedingCoeff=-0.0811;MLEAC=1;MLEAF=0.056;MQ=60;MQRankSum=0;QD=0.9;ReadPosRankSum=0.843;SOR=3.608	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:33,5:38:45:0|1:112809934_T_TGGGG:45,0,1347:112809934	8	0	1	1
chrX	115191251	115191251	G	C	exonic	RBMXL3	.	nonsynonymous SNV	RBMXL3:NM_001145346:exon1:c.G1810C:p.G604R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.045	0.00110957278096	.	.	6.42e-05	0	0	0	0	0	0	0.0002	.	.	.	rs782710190	3.831e-06	3.644e-06	2.844e-06	5.866e-06	8.111e-05	9e-07	6.1e-07	2.691e-05	1.574e-05	0	0	0	0	0	0	0	0	8.111e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.009	0.66756	D	0.999	0.77913	D	0.996	0.84481	D	.	.	.	.	0.823741	0.28849	N	0.55	0.14455	N	3.16	0.07711	T	-0.92	0.24676	N	0.089	0.06720	-1.0093	0.27136	T	0.024	0.10284	T	9	0.10722035	0.19907	T	0.00111	0.01336	T	0.045	0.12272	0.223	0.14665	0.0297737177859	0.01360	0.013959050396835768	0.01352	.	.	0.465356886387	0.34044	T	0.00635	0.05784	T	-0.478669	0.00753	T	-0.925351	0.00352	T	0.333493186673047	0.26365	T	0.377362	0.09032	T	0.10245201	0.24209	0.17778194	0.40403	0.10245201	0.24209	0.17778194	0.40402	-6.235	0.48205	T	.	.	0.258	0.49235	B	.	.	0.706112	0.10749	7.438	0.99485778274628633	0.67124	0.01046	0.03903	N	AEFBI	.	.	.	.	.	.	.	.	.	0.00406908259766134	0.10401	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.853	0.853	0.18139	-0.275000	0.08557	-0.279000	0.10284	0.304000	0.19002	0.001000	0.13787	0.000000	0.08366	0.003000	0.05239	0.3355:0.0:0.6645:0.0	3.849	0.08457	937	0.14592	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	3094.43	292	chrX	115191251	.	G	C	3094.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-3.088;DP=1331;ExcessHet=0;FS=4.584;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=59.88;MQRankSum=0.941;QD=10.6;ReadPosRankSum=1.55;SOR=0.712	GT:AD:DP:GQ:PL	0/1:156,136:292:99:3106,0,4275	9	0	1	0
chrX	135580144	135580144	G	C	exonic	INTS6L	.	nonsynonymous SNV	INTS6L:NM_001351603:exon15:c.G2365C:p.V789L,INTS6L:NM_001351604:exon15:c.G2233C:p.V745L,INTS6L:NM_001351605:exon15:c.G2233C:p.V745L,INTS6L:NM_001351606:exon15:c.G1639C:p.V547L,INTS6L:NM_182540:exon15:c.G2365C:p.V789L,INTS6L:NM_001351601:exon16:c.G2476C:p.V826L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.116	0.320721839563	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	9.106e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.082	0.33254	T	0.144	0.33109	T	0.054	0.22658	B	0.016	0.17743	B	0.000000	0.84330	D	0.000000	0.998439	0.44913	D	.	.	.	1.12	0.38718	T	-1.47	0.35991	N	0.585	0.60579	-0.8446	0.52338	T	0.185	0.53376	T	10	0.3336386	0.50551	T	0.320722	0.91466	D	0.116	0.32463	0.358	0.36060	0.707954595072	0.70541	0.7275652152813423	0.72700	1.18866698664	0.80215	0.648726463318	0.59806	T	0.054	0.29627	T	0.00945918	0.52950	T	-0.224189	0.52332	T	0.882806301116943	0.53294	D	0.539346	0.18229	T	0.6511502	0.75426	0.50532985	0.71408	0.6511502	0.75427	0.50532985	0.71409	-8.677	0.65596	D	.	.	0.978	0.90664	P	.;.	.;.	3.376911	0.46690	22.3	0.98498159316290479	0.42180	0.97707	0.76556	D	AEFGBI	.	.	.	.	.	.	.	.	.	0.999999042486774	0.74766	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.88	4.88	0.63131	4.677000	0.61324	5.234000	0.48040	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	16.741	0.85319	91	0.96221	INTS6/SAGE1/DDX26B/CT45, C-terminal;INTS6/SAGE1/DDX26B/CT45, C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4	353.72	80	chrX	135580144	.	G	C	353.72	.	AC=8;AF=0.4;AN=20;BaseQRankSum=-0.669;DP=603;ExcessHet=10.3881;FS=244.206;InbreedingCoeff=-0.6585;MLEAC=8;MLEAF=0.4;MQ=60;MQRankSum=0;QD=0.83;ReadPosRankSum=-0.147;SOR=10.741	GT:AD:DP:GQ:PL	0/1:45,27:80:66:66,0,611	2	0	8	0
chrX	141906161	141906161	-	CTGAGAGAACTCAGAGTACTTTTGAGGGTTTTGCCCAGTCTCCTCTCCAGATTCCTGTGAGCCCCTCCTCCTCCTCCACTTTACTGAGTCTTTTCCAGAGTTCCC	exonic	MAGEC1	.	nonframeshift insertion	MAGEC1:NM_005462:exon4:c.757_758insCTGAGAGAACTCAGAGTACTTTTGAGGGTTTTGCCCAGTCTCCTCTCCAGATTCCTGTGAGCCCCTCCTCCTCCTCCACTTTACTGAGTCTTTTCCAGAGTTCCC:p.S266_S267insPLQIPVSPSSSSTLLSLFQSSPERTQSTFEGFAQS	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.241e-05	5.362e-05	3.344e-05	9.938e-05	0.0016	3.529e-05	2.927e-05	0.0004	0.0002	0	0.0001	0	9.528e-05	0.0007	0.0016	1.242e-05	0	9.01e-05	0	5.469e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	6909.94	334	chrX	141906161	.	T	TCTGAGAGAACTCAGAGTACTTTTGAGGGTTTTGCCCAGTCTCCTCTCCAGATTCCTGTGAGCCCCTCCTCCTCCTCCACTTTACTGAGTCTTTTCCAGAGTTCCC	6909.94	.	AC=1;AF=0.25;AN=4;BaseQRankSum=-2.139;DP=1100;ExcessHet=0;FS=0.408;InbreedingCoeff=0.1111;MLEAC=2;MLEAF=0.5;MQ=57.69;MQRankSum=-5.826;QD=29.16;ReadPosRankSum=0.418;SOR=0.725	GT:AD:DP:GQ:PL	0/1:125,112:334:99:6913,0,4171	1	0	1	8
chrX	151674158	151674158	C	T	exonic	PASD1	.	nonsynonymous SNV	PASD1:NM_173493:exon15:c.C2147T:p.T716I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.024	.	0.0031	0.00264901	0.0042	0.0009	0.0171	0	0.0042	0.0035	0.0016	0.0013	0.0040232	622	154602	rs143262698	0.0048	0.0048	0.0049	0.0046	0.0161	0.0047	0.0046	0.0150	0.0145	0.0006	0.0161	0.0008	0	0.0028	0.0080	0.0050	0.0043	0.0017	0.0036	0.0036	0.0036	0.0035	0.0084	0.0033	0.0032	0.0070	0.0065	0.0011	0	0.0084	0.0004	0	0.0039	0.0046	0.0046	0.0026	0.0023	0.12	0.27904	T	0.239	0.24477	T	0.112	0.26290	B	0.019	0.18783	B	.	.	.	.	1	0.08975	N	0.805	0.20218	L	1.29	0.35775	T	-1.85	0.43334	N	0.032	0.00825	-1.0396	0.17434	T	0.028	0.12190	T	9	0.0035764873	0.00065	T	.	.	.	0.024	0.04979	.	.	0.043077524339	0.03247	0.060607713547500275	0.06000	0.139529830647	0.15728	0.277859985828	0.07195	T	0.005014	0.04439	T	-0.848443	0.00003	T	-0.97788	0.00186	T	0.0231710599362346	0.01044	T	0.336666	0.07200	T	0.026629966	0.01745	0.05294489	0.08822	0.026629966	0.01745	0.05294489	0.08821	-3.413	0.15232	T	.	.	0.084	0.09530	B	.	.	-0.824512	0.01060	0.046	0.9847232234108565	0.41873	0.00482	0.02293	N	AEFBI	.	.	.	.	.	.	.	.	.	0.986050087452869	0.30996	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.26	-6.52	0.01703	-1.979000	0.01583	-1.966000	0.04420	-1.819000	0.00603	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2561:0.1488:0.116:0.4791	1.542	0.02404	821	0.40814	.	.	.	.	.	.	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	0.002070	0.000000	0.003717	0.003953	0.000000	0.000000	0.000000	0.000000	0.05	1004.43	69	chrX	151674158	.	C	T	1004.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.65;DP=362;ExcessHet=0;FS=2.2;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.56;ReadPosRankSum=-0.913;SOR=1.038	GT:AD:DP:GQ:PL	0/1:34,35:69:99:1016,0,813	9	0	1	0
chrX	151739696	151739696	G	T	exonic	CNGA2	.	nonsynonymous SNV	CNGA2:NM_005140:exon4:c.G338T:p.G113V	.	429	1069	18	6	0	30	0.0138376	.	.	.	743181	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.193	0.0466069080944	0.0054	0.00344371	0.0060	0.0011	0.0035	0	0.0009	0.0083	0.0064	0.0077	0.0059572	921	154602	rs144366408	0.0066	0.0066	0.0065	0.0068	0.0169	0.0065	0.0064	0.0138	0.0126	0.0008	0.0033	0.0158	3.311e-05	0.0019	0.0169	0.0070	0.0072	0.0076	0.0050	0.0050	0.0052	0.0046	0.0080	0.0047	0.0045	0.0073	0.0071	0.0010	0.0044	0.0026	0.0155	0	0.0008	0.0140	0.0080	0.0106	0.0042	0.414	0.10020	T	0.316	0.19362	T	0.013	0.16609	B	0.015	0.17295	B	0.021695	0.26783	N	0.401066	0.999997	0.58761	D	1.5	0.37844	L	-4.34	0.97267	D	-0.31	0.12099	N	0.125	0.11769	-0.1750	0.78305	T	0.659	0.88141	D	10	0.0054856837	0.00121	T	0.046607	0.62536	D	0.193	0.47281	.	.	0.839038645063	0.83750	0.56561791884801	0.56488	0.0802067649774	0.09027	0.346496105194	0.17404	T	0.101624	0.40855	T	-0.39713	0.02417	T	-0.33852	0.40512	T	0.0100142106092321	0.00134	T	0.692631	0.30204	T	0.06027341	0.12350	0.060847368	0.11654	0.06027341	0.12350	0.060847368	0.11653	-4.882	0.35532	T	.	.	0.076	0.05979	B	.	.	1.296129	0.16976	12.88	0.95539897949477193	0.27185	0.86342	0.45603	D	AEFDGBI	.	.	.	.	.	.	.	.	.	0.0675586635227689	0.15430	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.58	2.75	0.31439	0.245000	0.17917	2.952000	0.35717	-0.785000	0.03297	0.851000	0.30461	1.000000	0.68203	0.862000	0.40904	0.1718:0.1496:0.5206:0.1579	2.259	0.03814	758	0.50837	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0.015225	0.000000	0.024119	0.007905	0.000000	0.023529	0.008850	0.015789	0.05	1381.43	95	chrX	151739696	.	G	T	1381.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.384;DP=416;ExcessHet=0;FS=5.137;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.54;ReadPosRankSum=0.374;SOR=0.356	GT:AD:DP:GQ:PL	0/1:43,52:95:99:1393,0,1212	9	0	1	0
chrX	151923710	151923710	G	A	exonic	MAGEA4	.	nonsynonymous SNV	MAGEA4:NM_001011548:exon3:c.G46A:p.V16I,MAGEA4:NM_001011549:exon3:c.G46A:p.V16I,MAGEA4:NM_001011550:exon3:c.G46A:p.V16I,MAGEA4:NM_002362:exon3:c.G46A:p.V16I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.032	0.0014020762755	0.0014	0.0015894	0.0004	0.0044	0	0	0	0	0	0.0002	0.000401	62	154602	rs142773415	0.0002	0.0002	0.0002	0.0001	0.0059	0.0002	0.0002	0.0052	0.0049	0.0059	0.0001	0	0	0	0.0005	1.9e-05	0.0003	9.236e-05	0.0013	0.0014	0.0013	0.0015	0.0047	0.0012	0.0011	0.0041	0.0039	0.0047	0	9.409e-05	0	0	0	0	1.882e-05	0.0013	0.0004	0.019	0.50132	D	0.115	0.39799	T	0.31	0.32798	B	0.035	0.22741	B	0.000108	0.00454	N	5.141020	1	0.08975	N	-0.345	0.03330	N	3.68	0.04151	T	0.53	0.03243	N	0.024	0.00445	-0.9839	0.34093	T	0.007	0.02598	T	10	0.004689902	0.00099	T	0.001402	0.02062	T	0.032	0.07718	.	.	0.043077524339	0.03247	0.040876506513299944	0.04032	0.0039295795262	0.00340	0.229633182287	0.01941	T	0.001018	0.02288	T	-0.818099	0.00005	T	-0.946965	0.00272	T	0.0130391264606733	0.00227	T	0.492651	0.15191	T	0.042650685	0.06507	0.05261352	0.08704	0.042650685	0.06506	0.05261352	0.08703	-4.843	0.35088	T	.	.	0.080	0.07889	B	.;.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.;.	-1.854720	0.00140	0.002	0.68819901232604863	0.08777	0.01265	0.04434	N	AEFCI	.	.	.	.	.	.	.	.	.	0.034652362980842	0.14164	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.4	-3.6	0.04277	-4.156000	0.00322	-20.000000	0.00162	-3.737000	0.00063	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.4147:0.323:0.2623	4.904	0.13144	728	0.54609	Melanoma associated antigen, N-terminal|Melanoma associated antigen, N-terminal;Melanoma associated antigen, N-terminal|Melanoma associated antigen, N-terminal;Melanoma associated antigen, N-terminal|Melanoma associated antigen, N-terminal;Melanoma associated antigen, N-terminal|Melanoma associated antigen, N-terminal;Melanoma associated antigen, N-terminal|Melanoma associated antigen, N-terminal;Melanoma associated antigen, N-terminal|Melanoma associated antigen, N-terminal;Melanoma associated antigen, N-terminal|Melanoma associated antigen, N-terminal;Melanoma associated antigen, N-terminal|Melanoma associated antigen, N-terminal;Melanoma associated antigen, N-terminal|Melanoma associated antigen, N-terminal;Melanoma associated antigen, N-terminal|Melanoma associated antigen, N-terminal;Melanoma associated antigen, N-terminal|Melanoma associated antigen, N-terminal;Melanoma associated antigen, N-terminal|Melanoma associated antigen, N-terminal;Melanoma associated antigen, N-terminal|Melanoma associated antigen, N-terminal;Melanoma associated antigen, N-terminal|Melanoma associated antigen, N-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	1845.43	117	chrX	151923710	.	G	A	1845.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=3.27;DP=637;ExcessHet=0;FS=0.696;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=15.77;ReadPosRankSum=-0.202;SOR=0.571	GT:AD:DP:GQ:PL	0/1:55,62:117:99:1857,0,1377	9	0	1	0
chrX	153318951	153318951	G	A	exonic	PNMA6F	.	nonsynonymous SNV	PNMA6F:NM_001354980:exon2:c.C1724T:p.P575L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00238411	.	.	.	.	.	.	.	.	0.0004226	11	26028	rs367643840	0.0002	0.0002	0.0001	0.0002	0.0089	0.0001	0.0001	0.0060	0.0050	0	0	0	0	0	0	5.074e-05	0.0002	0.0089	0.0003	0.0003	0.0002	0.0004	0.0099	0.0002	0.0002	0.0070	0.0061	3.182e-05	0	0	0	0	0.0002	0	3.748e-05	0	0.0099	.	.	.	0.158	0.31629	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.186	0.20262	.	.	.	.	.	.	.	0.006699115	0.00152	T	.	.	.	.	.	.	.	.	.	0.06829098680561384	0.06767	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.456254	0.13085	T	0.040178064	0.05686	0.0960383	0.22802	0.040178064	0.05686	0.0960383	0.22802	-4.491	0.30770	T	.	.	0.076	0.05756	B	.	.	0.456208	0.08259	5.004	0.43446540396354594	0.03271	0.01953	0.05932	N	AEFDBI	.	.	.	.	.	.	.	.	.	0.0896961982384377	0.16091	.	.	.	.	.	.	.	.	.	.	.	.	0.0469443	0.06290	2.59	0.689	0.17197	0.185000	0.16767	.	.	0.522000	0.23927	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.182:0.0:0.527:0.291	2.467	0.04277	162	0.93704	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	974.43	67	chrX	153318951	.	G	A	974.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.256;DP=325;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.54;ReadPosRankSum=-0.928;SOR=0.67	GT:AD:DP:GQ:PL	0/1:28,39:67:99:986,0,682	9	0	1	0
chrX	153320143	153320160	CTCCTGCCTCACCTGCTG	-	exonic	PNMA6F	.	nonframeshift deletion	PNMA6F:NM_001354980:exon2:c.515_532del:p.A172_G177del	.	925	591	4	2	0	8	0.00672269	.	.	.	2824248	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0015	0.0013	0.0014	0.0017	0.0074	0.0013	0.0013	0.0037	0.0031	0.0009	0.0004	0.0008	0.0011	0.0006	0.0074	0.0015	0.0018	0.0044	0.0014	0.0018	0.0017	0.0007	0.0080	0.0012	0.0012	0.0053	0.0044	0.0011	0	0.0012	0.0008	0.0003	0.0002	0.0047	0.0016	0.0013	0.0080	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	974.39	80	chrX	153320142	.	CCTCCTGCCTCACCTGCTG	C	974.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.874;DP=468;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=59.57;MQRankSum=-2.19;QD=12.18;ReadPosRankSum=-0.519;SOR=0.643	GT:AD:DP:GQ:PL	0/1:49,31:80:99:986,0,1927	9	0	1	0